id name category provided_by xrefs description same_as iri synonym subsets MONDO:0002974 cervical cancer biolink:Disease mondo ICD9:180.8|ICD9:180|COHD:198984|OMIM:603956|ICD9:180.9|ICD10:C53.9|SCTID:363354003|NCIT:C9311|DOID:4362|ICD10:C53 A primary or metastatic malignant neoplasm involving the cervix. NCIT:C9311|DOID:4362|SNOMEDCT:363354003|http://identifiers.org/omim/603956 http://purl.obolibrary.org/obo/MONDO_0002974 malignant neoplasm of cervix uteri|cervix uteri cancer|malignant cervix uteri tumor|malignant neoplasm of the cervix uteri|malignant cervix neoplasm|malignant uterine cervix tumor|malignant neoplasm of the uterine cervix|neoplasm of uterine cervix|cervix cancer|tumor of the cervix uteri|malignant tumor of cervix|malignant tumor of the cervix|malignant cervical tumor|malignant cervical neoplasm|cervical neoplasm|uterine cervical neoplasm|malignant tumor of cervix uteri|malignant tumor of uterine cervix|malignant tumor of the cervix uteri|malignant uterine cervix neoplasm|malignant tumor of the uterine cervix|malignant neoplasm of cervix|malignant neoplasm of the cervix|malignant cervix tumor|malignant neoplasm of uterine cervix|malignant cervix uteri neoplasm|cancer of uterine cervix|uterine cervix cancer MONDO:0000311 obsolete congenital hypothyroidism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000311 MONDO:0000310 Alkhurma hemorrhagic fever biolink:Disease mondo DOID:0050308 A disease caused by infection with Alkhumra hemorrhagic fever virus. DOID:0050308 http://purl.obolibrary.org/obo/MONDO_0000310 Alkhumra hemorrhagic fever virus disease or disorder|Alkhumra hemorrhagic fever virus infectious disease|Alkhumra hemorrhagic fever virus caused disease or disorder MONDO:0002975 malignant breast melanoma biolink:Disease mondo NCIT:C8410|SCTID:188050009|DOID:4364|UMLS:C0346787 A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare. NCIT:C8410|DOID:4364|SNOMEDCT:188050009|UMLS:C0346787 http://purl.obolibrary.org/obo/MONDO_0002975 malignant breast melanoma|breast melanoma (disease)|melanoma (disease) of breast|breast melanoma|malignant melanoma of breast|malignant melanoma of the breast MONDO:0002976 stomach diverticulosis biolink:Disease mondo UMLS:C1148546|DOID:4370|MESH:D045724 A pathological condition characterized by the presence of a number of gastric diverticula in the stomach. DOID:4370|MESH:D045724|UMLS:C1148546 http://purl.obolibrary.org/obo/MONDO_0002976 HP:0011772 Abnormal thyroid morphology biolink:PhenotypicFeature mondo UMLS:C4023195 A structural abnormality of the thyroid gland. http://purl.obolibrary.org/obo/HP_0011772 Abnormal shape of thyroid gland|Abnormality of thyroid morphology MONDO:0002977 autoimmune disease of the nervous system biolink:Disease mondo NCIT:C99383|UMLS:C0751872|DOID:438|UMLS:C0751871|MESH:D020274 A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. DOID:438|NCIT:C99383|UMLS:C0751871|UMLS:C0751872|MESH:D020274 http://purl.obolibrary.org/obo/MONDO_0002977 autoimmune disorders of the nervous system|autoimmune disease of nervous system|nervous system immune disorders|neurologic autoimmune diseases|autoimmune nervous system disorder|nervous system autoimmune disease|immune disorders, nervous system|autoimmune diseases, nervous system|autoimmune disorders, nervous system|immune diseases, nervous system|autoimmune disease, neurologic|diseases, neurologic autoimmune|nervous system autoimmune diseases|nervous system immune diseases|disease, neurologic autoimmune|nervous system hypersensitivity reaction type II disease|autoimmune diseases, neurologic|autoimmune nervous system diseases|neurologic autoimmune disease MONDO:0000315 commensal bacterial infectious disease biolink:Disease mondo DOID:0050339 A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. DOID:0050339 http://purl.obolibrary.org/obo/MONDO_0000315 opportunistic bacterial infectious disease MONDO:0002970 ciliary body disease biolink:Disease mondo DOID:4353|SCTID:68575007|COHD:442770|NCIT:C35775|UMLS:C0271100 A disease involving the ciliary body. DOID:4353|SNOMEDCT:68575007|UMLS:C0271100|NCIT:C35775 http://purl.obolibrary.org/obo/MONDO_0002970 disease of ciliary body|disorder of ciliary body|disease or disorder of ciliary body|ciliary body disorder|ciliary body disease|ciliary body disease or disorder|disorder of ciliary body UBERON:0011591 tract of diencephalon biolink:AnatomicalEntity mondo An axon tract that is part of a diencephalon. http://purl.obolibrary.org/obo/UBERON_0011591 diencephalon tract MONDO:0002971 amelanotic melanoma biolink:Disease mondo DOID:4359|EFO:1001937|NCIT:C3802|MESH:D018328|ICDO:8730/3|UMLS:C0206735 A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction. DOID:4359|UMLS:C0206735|MESH:D018328|NCIT:C3802 http://purl.obolibrary.org/obo/MONDO_0002971 amelanotic melanoma|melanomas, amelanotic|melanoma, amelanotic, malignant|amelanotic melanomas|amelanotic melanoma (morphologic abnormality) MONDO:0000314 primary bacterial infectious disease biolink:Disease mondo DOID:0050338 DOID:0050338 http://purl.obolibrary.org/obo/MONDO_0000314 UBERON:0011590 commissure of diencephalon biolink:AnatomicalEntity mondo A commissure that is part of a diencephalon. http://purl.obolibrary.org/obo/UBERON_0011590 diencephalon commissure MONDO:0000313 hypophosphatemia (disease) biolink:Disease mondo DOID:0050336|NCIT:C37977|SCTID:4996001|MESH:D017674|HP:0002148|UMLS:C0085682 Lower than normal levels of phosphates in the circulating blood. NCIT:C37977|SNOMEDCT:4996001|UMLS:C0085682|DOID:0050336|MESH:D017674 http://purl.obolibrary.org/obo/MONDO_0000313 hypophosphatemia MONDO:0002972 posterior mediastinum cancer biolink:Disease mondo SCTID:448670003|DOID:436|UMLS:C0153502|ICD9:164.3|ICD10:C38.2|COHD:40490995 A malignant neoplasm involving the posterior mediastinum. DOID:436|SNOMEDCT:448670003|UMLS:C0153502 http://purl.obolibrary.org/obo/MONDO_0002972 cancer of posterior mediastinum|malignant posterior mediastinum neoplasm|malignant neoplasm of posterior mediastinum|posterior mediastinum cancer MONDO:0002973 epithelioid cell melanoma biolink:Disease mondo NCIT:C4236|UMLS:C0334443|ICDO:8771/3|DOID:4360 A melanoma characterized by the presence of malignant large epithelioid melanocytes. DOID:4360|NCIT:C4236|UMLS:C0334443 http://purl.obolibrary.org/obo/MONDO_0002973 epithelioid cell melanoma|epithelioid melanoma|epithelioid cell melanoma (morphologic abnormality)|epithelioid cell malignant melanoma MONDO:0000312 obsolete enlarged vestibular aqueduct biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000312 UBERON:0011595 jaw region biolink:AnatomicalEntity mondo A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. http://purl.obolibrary.org/obo/UBERON_0011595 MONDO:0014959 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant biolink:Disease mondo UMLS:C4310676|OMIM:617184 UMLS:C4310676|http://identifiers.org/omim/617184 http://purl.obolibrary.org/obo/MONDO_0014959 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant|MTDPS12A UBERON:0011594 dentary tooth biolink:AnatomicalEntity mondo Tooth that is attached to a dentary/mandible[TAO,modified]. http://purl.obolibrary.org/obo/UBERON_0011594 tooth of dentary|mandibular teeth|mandibular tooth UBERON:0011593 maxillary tooth biolink:AnatomicalEntity mondo A tooth that is attached to a maxilla[TAO,modified]. http://purl.obolibrary.org/obo/UBERON_0011593 maxillary teeth MONDO:0014958 Harel-Yoon syndrome biolink:Disease mondo UMLS:C4310677|OMIM:617183 UMLS:C4310677|http://identifiers.org/omim/617183 http://purl.obolibrary.org/obo/MONDO_0014958 HAYOS|Harel-Yoon syndrome; HAYOS|Harel-Yoon syndrome MONDO:0014957 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia biolink:Disease mondo OMIM:617182|UMLS:C4310678 UMLS:C4310678|http://identifiers.org/omim/617182 http://purl.obolibrary.org/obo/MONDO_0014957 language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia|LADCI|language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI UBERON:0011592 future upper lip biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011592 upper jaw future lip UBERON:0011597 bone of upper jaw biolink:AnatomicalEntity mondo Any bone that is part of the upper jaw skeleton. This includes (when present): the maxilla, the quadrate (in some species). http://purl.obolibrary.org/obo/UBERON_0011597 upper jaw bone UBERON:0011596 future lower lip biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011596 lower jaw future lip MONDO:0014963 Shashi-Pena syndrome biolink:Disease mondo UMLS:C4310672|OMIM:617190 http://identifiers.org/omim/617190|UMLS:C4310672 http://purl.obolibrary.org/obo/MONDO_0014963 SHAPNS|Shashi-Pena syndrome; SHAPNS|Shashi-Pena syndrome MONDO:0012300 prostate cancer, hereditary, 6 biolink:Disease mondo OMIM:609558|UMLS:C1836005|MESH:C563699 UMLS:C1836005|MESH:C563699|http://identifiers.org/omim/609558 http://purl.obolibrary.org/obo/MONDO_0012300 HPC6|prostate cancer, hereditary, type 6|prostate cancer, hereditary, 6 MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form biolink:Disease mondo SCTID:703527003|ICD9:359.89|DOID:0080120|Orphanet:254875|OMIM:609560|UMLS:C3501891|ICD10:G71.3|MESH:C563698 Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. DOID:0080120|ORPHA:254875|UMLS:C3501891|MESH:C563698|SNOMEDCT:703527003|http://identifiers.org/omim/609560 http://purl.obolibrary.org/obo/MONDO_0012301 mitochondrial DNA depletion syndrome 2 (myopathic type); MTDPS2|mitochondrial DNA depletion syndrome 2|mitochondrial DNA depletion syndrome type 2|MTDPS2|mitochondrial DNA depletion myopathy, Tk2-related|mtDNA depletion syndrome, myopathic form|mitochondrial DNA depletion syndrome 2 (myopathic type) ordo_disease MONDO:0014962 intellectual disability, autosomal recessive 57 biolink:Disease mondo UMLS:C4310673|OMIM:617188 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene. http://identifiers.org/omim/617188|UMLS:C4310673 http://purl.obolibrary.org/obo/MONDO_0014962 intellectual disability, autosomal recessive type 57|MBOAT7 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 57; MRT57|intellectual disability, autosomal recessive 57; MRT57|mental retardation, autosomal recessive 57|intellectual disability, autosomal recessive 57; MRT57|autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7|intellectual disability, autosomal recessive 57|MRT57|mental retardation, autosomal recessive type 57 MONDO:0014961 spermatogenic failure 16 biolink:Disease mondo DOID:0070184|OMIM:617187|UMLS:C4310674 Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene. http://identifiers.org/omim/617187|DOID:0070184|UMLS:C4310674 http://purl.obolibrary.org/obo/MONDO_0014961 spermatogenic failure 16|spermatogenic failure type 16|azoospermia caused by mutation in SUN5|acephalic spermatozoa syndrome|SUN5 azoospermia|SPGF16|spermatogenic failure 16; SPGF16 MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy biolink:Disease mondo UMLS:C4310675|OMIMPS:617186 UMLS:C4310675 http://purl.obolibrary.org/obo/MONDO_0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy|PEBEL ordo_disease UBERON:0011589 non-mineralized cartilage tissue biolink:AnatomicalEntity mondo Cartilage tissue that is not mineralized. http://purl.obolibrary.org/obo/UBERON_0011589 MONDO:0012304 PPR2 biolink:Disease mondo OMIM:609572|UMLS:C1835967 http://identifiers.org/omim/609572|UMLS:C1835967 http://purl.obolibrary.org/obo/MONDO_0012304 PPR2|photoparoxysmal response 2|photoparoxysmal response with or without idiopathic generalized epilepsy|photoparoxysmal response 2; PPR2 MONDO:0014967 heterotaxy, visceral, 8, autosomal biolink:Disease mondo OMIM:617205|UMLS:C4310668 Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene. UMLS:C4310668|http://identifiers.org/omim/617205 http://purl.obolibrary.org/obo/MONDO_0014967 heterotaxy, visceral, 8, autosomal|HTX8|heterotaxy, visceral, 8, autosomal; HTX8|visceral heterotaxy caused by mutation in PKD1L1|PKD1L1 visceral heterotaxy|HTX8 MONDO:0012305 PPR3 biolink:Disease mondo OMIM:609573|UMLS:C1835966|MESH:C563695 http://identifiers.org/omim/609573|MESH:C563695|UMLS:C1835966 http://purl.obolibrary.org/obo/MONDO_0012305 PPR3|photoparoxysmal response with or without myoclonic epilepsy|photoparoxysmal response 3|photoparoxysmal response 3; PPR3 MONDO:0014966 periventricular nodular heterotopia 7 biolink:Disease mondo OMIM:617201|UMLS:C4310669 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene. UMLS:C4310669|http://identifiers.org/omim/617201 http://purl.obolibrary.org/obo/MONDO_0014966 NEDD4L periventricular nodular heterotopia|PVNH7|periventricular nodular heterotopia 7|periventricular nodular heterotopia 7; PVNH7|periventricular nodular heterotopia type 7|periventricular nodular heterotopia caused by mutation in NEDD4L MONDO:0014965 lethal congenital contracture syndrome 11 biolink:Disease mondo OMIM:617194|UMLS:C4310670|GARD:0013220 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene. http://identifiers.org/omim/617194|UMLS:C4310670 http://purl.obolibrary.org/obo/MONDO_0014965 GLDN lethal congenital contracture syndrome|lethal congenital contracture syndrome 11; LCCS11|lethal congenital contracture syndrome 11|lethal congenital contracture arthrogryposis-11|lethal congenital contracture syndrome caused by mutation in GLDN|LCCS11|lethal congenital contracture syndrome type 11 MONDO:0012302 PFM3 biolink:Disease mondo MESH:C563697|OMIM:609566|UMLS:C1835980 MESH:C563697|UMLS:C1835980|http://identifiers.org/omim/609566 http://purl.obolibrary.org/obo/MONDO_0012302 parietal foramina 3|PFM3|parietal foramina 3; PFM3 MONDO:0014964 obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0014964 MONDO:0012303 migraine with or without aura, susceptibility to, 8 biolink:Disease mondo OMIM:609570 http://identifiers.org/omim/609570 http://purl.obolibrary.org/obo/MONDO_0012303 migraine with or without aura, susceptibility to, 8|migraine with or without aura, susceptibility to, type 8|Mgr8 predisposition MONDO:0000308 primary systemic mycosis biolink:Disease mondo DOID:0050292 A systemic mycosis that arises from infection in an immunologically normal host. DOID:0050292 http://purl.obolibrary.org/obo/MONDO_0000308 NCBITaxon:75739 Eucoccidiorida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_75739 Eucoccidiida MONDO:0000307 parasitic Ichthyosporea infectious disease biolink:Disease mondo DOID:0050291 A disease caused by infection with Ichthyosporea. DOID:0050291 http://purl.obolibrary.org/obo/MONDO_0000307 Ichthyosporea infectious disease|Ichthyosporea caused disease or disorder|Ichthyosporea disease or disorder HGNC:6470 L1CAM biolink:OntologyClass mondo http://identifiers.org/hgnc/6470 MONDO:0000306 trichosporonosis biolink:Disease mondo DOID:0050290|SCTID:240761008|UMLS:C0343939|MESH:D060586 Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. MESH:D060586|DOID:0050290|UMLS:C0343939|SNOMEDCT:240761008 http://purl.obolibrary.org/obo/MONDO_0000306 Trichosporon infectious disease|Trichosporon disease or disorder|Trichosporon caused disease or disorder MONDO:0000305 obsolete fusariosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000305 MONDO:0002967 dermatophytosis of scalp or beard biolink:Disease mondo UMLS:C0011640|SCTID:266148000|DOID:4337|NCIT:C34536|UMLS:C1274426|COHD:141508|ICD9:110.0 Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area. NCIT:C34536|DOID:4337|UMLS:C0011640|UMLS:C1274426|SNOMEDCT:266148000 http://purl.obolibrary.org/obo/MONDO_0002967 dermatophytosis of scalp and Beard|tinea capitis|dermatophytosis of scalp or beard|dermatophytosis of scalp|Trichophyton rubrum tinea capitis|tinea capitis due to Trichophyton rubrum|dermatophytosis of scalp|scalp dermatophytosis|scalp ringworm MONDO:0002968 lymphocele biolink:Disease mondo DOID:4347|ICD9:457.8|MESH:D008210|UMLS:C0024248|SCTID:234110002 A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery. NCIT:C78442|MESH:D008210|DOID:4347|UMLS:C0024248|SNOMEDCT:234110002 http://purl.obolibrary.org/obo/MONDO_0002968 lymph cyst MONDO:0002969 ciliary body cancer biolink:Disease mondo NCIT:C4766|UMLS:C0496833|ICD10:C69.4|DOID:4352|SCTID:188263008 A malignant neoplasm involving the ciliary body. NCIT:C4766|UMLS:C0496833|DOID:4352|SNOMEDCT:188263008 http://purl.obolibrary.org/obo/MONDO_0002969 malignant neoplasm of the ciliary body|malignant neoplasm of ciliary body|malignant ciliary body tumor|malignant tumor of the ciliary body|malignant ciliary body neoplasm|cancer of ciliary body|neoplasm of ciliary body|malignant tumor of ciliary body|tumor of the ciliary body|ciliary body cancer MONDO:0000309 aniseikonia biolink:Disease mondo ICD10:H52.32|ICD9:367.32|DOID:0050304|EFO:1001266|MESH:D000839|SCTID:16059006 A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other. DOID:0050304|SNOMEDCT:16059006|MESH:D000839 http://purl.obolibrary.org/obo/MONDO_0000309 MONDO:0000322 obsolete Carrion disease biolink:Disease mondo A disease caused by infection with Bartonella bacilliformis. http://purl.obolibrary.org/obo/MONDO_0000322 MONDO:0002985 obsolete pustulosis of palm and sole biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002985 MONDO:0000321 typhoidal tularemia biolink:Disease mondo DOID:0050383|UMLS:C0473876|SCTID:398554008 A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss. DOID:0050383|SNOMEDCT:398554008|UMLS:C0473876 http://purl.obolibrary.org/obo/MONDO_0000321 MONDO:0002986 obsolete neuromuscular disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002986 MONDO:0000320 glandular tularemia biolink:Disease mondo SCTID:21857006|UMLS:C0275974|DOID:0050382 A tularemia that involves the lymph node. DOID:0050382|UMLS:C0275974|SNOMEDCT:21857006 http://purl.obolibrary.org/obo/MONDO_0000320 lymph node tularemia MONDO:0002987 spongiotic dermatitis biolink:Disease mondo UMLS:C0262984|SCTID:23615008|ICD9:692.9|NCIT:C27037|EFO:1000768|DOID:4406 A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication. DOID:4406|NCIT:C27037|UMLS:C0262984|SNOMEDCT:23615008 http://purl.obolibrary.org/obo/MONDO_0002987 MONDO:0002988 cervix melanoma biolink:Disease mondo DOID:4413|UMLS:C0877611|GARD:0009664|NCIT:C40239 An aggressive malignant tumor of melanocytic origin that arises from the cervix. DOID:4413|UMLS:C0877611|NCIT:C40239 http://purl.obolibrary.org/obo/MONDO_0002988 melanoma of the cervix|primary malignant melanoma of the cervix uteri|primary malignant melanoma of the uterine cervix|cervical melanoma gard_rare MONDO:0002981 peripheral primitive neuroectodermal tumor of bone biolink:Disease mondo UMLS:C0855009|DOID:4388|NCIT:C8776 A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain. NCIT:C8776|UMLS:C0855009|DOID:4388 http://purl.obolibrary.org/obo/MONDO_0002981 peripheral neuroectodermal tumor of bone|peripheral neuroectodermal tumor of the bone|bone peripheral neuroepithelioma|peripheral primitive neuroectodermal tumor of bone tissue|osseous peripheral neuroepithelioma|peripheral primitive neuroectodermal tumor of bone|peripheral neuroepithelioma of bone|peripheral neuroepithelioma of the bone|bone tissue peripheral primitive neuroectodermal tumor MONDO:0000326 obsolete lissencephaly biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000326 MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues biolink:Disease mondo DOID:4389|NCIT:C27471|UMLS:C1112437 A small round cell tumor with neural differentiation arising from the soft tissues. DOID:4389|NCIT:C27471|UMLS:C1112437 http://purl.obolibrary.org/obo/MONDO_0002982 peripheral neuroepithelioma of soft tissues|peripheral neuroepithelioma of the soft tissues|peripheral neuroectodermal tumor of the soft tissues|peripheral neuroectodermal tumor of soft tissues|soft tissue peripheral neuroepithelioma|peripheral primitive neuroectodermal tumor of soft tissues MONDO:0000325 obsolete pachyonychia congenita biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000325 MONDO:0002983 obsolete neuromuscular junction disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002983 MONDO:0000324 obsolete familial partial lipodystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000324 MONDO:0002984 reticulohistiocytic granuloma biolink:Disease mondo SCTID:404162004|DOID:4394|UMLS:C0035290|GARD:0012967|ICD9:277.89|NCIT:C3356 A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003 DOID:4394|SNOMEDCT:404162004|UMLS:C0035290|NCIT:C3356 http://purl.obolibrary.org/obo/MONDO_0002984 reticulohistiocytic granuloma (morphologic abnormality)|Reticulohistiocytoma|solitary Reticulohistiocytoma|solitary reticulohistiocytosis|solitary histiocytoma|solitary reticulohistiocytoma MONDO:0000323 obsolete familial adenomatous polyposis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000323 UBERON:0011584 zeugopodial skeleton biolink:AnatomicalEntity mondo Section of the forelimb skeleton located between the stylopodium and the autopodium. http://purl.obolibrary.org/obo/UBERON_0011584 zygopodium|mesomere 2|zeugopod skeleton|skeleton of zeugopod|mesomere 2 skeleton|epipodium|epipodial skeleton MONDO:0014949 developmental and epileptic encephalopathy, 47 biolink:Disease mondo OMIM:617166|UMLS:C4310685 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene. UMLS:C4310685|http://identifiers.org/omim/617166 http://purl.obolibrary.org/obo/MONDO_0014949 FGF12 early infantile epileptic encephalopathy|EIEE47|epileptic encephalopathy, early infantile, type 47|DEE47|early infantile epileptic encephalopathy caused by mutation in FGF12|epileptic encephalopathy, early infantile, 47; EIEE47|epileptic encephalopathy, early infantile, 47 MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay biolink:Disease mondo OMIM:617164|UMLS:C4310686 UMLS:C4310686|http://identifiers.org/omim/617164 http://purl.obolibrary.org/obo/MONDO_0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay|short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD|SRMMD UBERON:0011583 stylopodial skeleton biolink:AnatomicalEntity mondo Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. http://purl.obolibrary.org/obo/UBERON_0011583 propodial skeleton|mesomere 1|stylopodium skeleton|stylopod|propodium|stylopodium|proximal metapterygial mesomere MONDO:0014947 developmental and epileptic encephalopathy, 46 biolink:Disease mondo UMLS:C4310687|OMIM:617162 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene. UMLS:C4310687|http://identifiers.org/omim/617162 http://purl.obolibrary.org/obo/MONDO_0014947 epileptic encephalopathy, early infantile, type 46|EIEE46|epileptic encephalopathy, early infantile, 46|early infantile epileptic encephalopathy caused by mutation in GRIN2D|epileptic encephalopathy, early infantile, 46; EIEE46|GRIN2D early infantile epileptic encephalopathy|DEE46 UBERON:0011582 paired limb/fin skeleton biolink:AnatomicalEntity mondo The collection of all skeletal elements in an individual limb or fin. http://purl.obolibrary.org/obo/UBERON_0011582 skeleton of limb/fin|skeletal parts of limb/fin|limb/fin skeleton MONDO:0014946 Sifrim-Hitz-Weiss syndrome biolink:Disease mondo UMLS:C4310688|OMIM:617159 UMLS:C4310688|http://identifiers.org/omim/617159 http://purl.obolibrary.org/obo/MONDO_0014946 Sifrim-Hitz-Weiss syndrome|Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome|SIHIWES|Sifrim-Hitz-Weiss syndrome; SIHIWES|Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome MONDO:0002980 obsolete myofibroma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002980 UBERON:0011588 pre-enamel biolink:AnatomicalEntity mondo Odontogenic tissue that is avascular non-mineralized matrix that is deposited by preameloblast and ameloblasts that are excluded from the matrix. http://purl.obolibrary.org/obo/UBERON_0011588 pre-enamel tissue|preenamel tissue UBERON:0011587 pre-dentine biolink:AnatomicalEntity mondo Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. http://purl.obolibrary.org/obo/UBERON_0011587 predentine tissue|predentin|pre-dentine tissue UBERON:0011585 cell condensation biolink:AnatomicalEntity mondo Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). http://purl.obolibrary.org/obo/UBERON_0011585 MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome biolink:Disease mondo UMLS:C4310683|Orphanet:468620|OMIM:617171 UMLS:C4310683|http://identifiers.org/omim/617171|ORPHA:468620 http://purl.obolibrary.org/obo/MONDO_0014952 dyskinesia, seizures, and intellectual developmental disorder; DYSEIDD|DYSEIDD|dyskinesia, seizures, and intellectual developmental disorder ordo_disease MONDO:0014951 Sotos syndrome 3 biolink:Disease mondo UMLS:C4310684|OMIM:617169 Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene. http://identifiers.org/omim/617169|UMLS:C4310684 http://purl.obolibrary.org/obo/MONDO_0014951 Sotos syndrome caused by mutation in APC2|Sotos syndrome 3; SOTOS3|SOTOS3|Sotos syndrome type 3|Sotos syndrome 3|APC2 Sotos syndrome MONDO:0014950 aortic aneurysm, familial thoracic 10 biolink:Disease mondo UMLS:C4284414|OMIM:617168 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene. UMLS:C4284414|http://identifiers.org/omim/617168 http://purl.obolibrary.org/obo/MONDO_0014950 LOX familial thoracic aortic aneurysm and aortic dissection|AAT10|aortic aneurysm, familial thoracic 10; AAT10|familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX|aortic aneurysm, familial thoracic type 10|aortic aneurysm, familial thoracic 10 MONDO:0014956 Chitayat syndrome biolink:Disease mondo OMIM:617180|UMLS:C4310679 UMLS:C4310679|http://identifiers.org/omim/617180 http://purl.obolibrary.org/obo/MONDO_0014956 Chitayat syndrome; CHYTS|Chitayat syndrome|CHYTS MONDO:0014955 retinal dystrophy with or without extraocular anomalies biolink:Disease mondo UMLS:C4310680|OMIM:617175 UMLS:C4310680|http://identifiers.org/omim/617175 http://purl.obolibrary.org/obo/MONDO_0014955 RDEOA|retinal dystrophy with or without extraocular anomalies; RDEOA|retinal dystrophy with or without extraocular anomalies MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 biolink:Disease mondo OMIM:617174 http://identifiers.org/omim/617174 http://purl.obolibrary.org/obo/MONDO_0014954 Ehlers-Danlos syndrome, periodontal type, 2|Ehlers-Danlos syndrome, periodontal type, 2; EDSPD2|EDSPD2 MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome biolink:Disease mondo Orphanet:542306|UMLS:C4310682|OMIM:617173 UMLS:C4310682|ORPHA:542306|http://identifiers.org/omim/617173 http://purl.obolibrary.org/obo/MONDO_0014953 intellectual developmental disorder with cardiac arrhythmia|intellectual developmental disorder with cardiac arrhythmia; IDDCA|IDDCA ordo_disease MONDO:0000319 obsolete infant botulism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000319 HP:0011767 Abnormality of the parathyroid physiology biolink:PhenotypicFeature mondo UMLS:C4023198 A functional abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/HP_0011767 Parathyroid dysfunction|Parathyroid issue HGNC:6481 LAMA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6481 MONDO:0000318 obsolete wound botulism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000318 MONDO:0000317 obsolete foodborne botulism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000317 HGNC:6482 LAMA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6482 MONDO:0000316 opportunistic bacterial infectious disease biolink:Disease mondo DOID:0050340 DOID:0050340 http://purl.obolibrary.org/obo/MONDO_0000316 HGNC:6483 LAMA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6483 MONDO:0002978 orbit alveolar rhabdomyosarcoma biolink:Disease mondo UMLS:C1335126|NCIT:C6247|DOID:4384 A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma. DOID:4384|NCIT:C6247|UMLS:C1335126 http://purl.obolibrary.org/obo/MONDO_0002978 alveolar rhabdomyosarcoma of orbit|alveolar rhabdomyosarcoma of the orbit HGNC:6484 LAMA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6484 MONDO:0002979 papillary squamous carcinoma biolink:Disease mondo NCIT:C4102|UMLS:C0334244|DOID:4385|ICDO:8052/3 A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva. DOID:4385|NCIT:C4102|UMLS:C0334244 http://purl.obolibrary.org/obo/MONDO_0002979 papillary epidermoid carcinoma|papillary squamous carcinoma|papillary squamous cell carcinoma|papillary epidermoid cell carcinoma HGNC:6485 LAMA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/6485 HGNC:6486 LAMB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6486 HGNC:6487 LAMB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6487 MONDO:0002952 follicular basal cell carcinoma biolink:Disease mondo SCTID:402526009|UMLS:C1883723|DOID:4295|NCIT:C27538 SNOMEDCT:402526009|DOID:4295|NCIT:C27538|UMLS:C1883723 http://purl.obolibrary.org/obo/MONDO_0002952 follicular (pilar) basal cell carcinoma|skin follicular basal cell carcinoma MONDO:0002953 skin infiltrative basal cell carcinoma biolink:Disease mondo UMLS:C0334257|ICDO:8092/3|DOID:4299|NCIT:C27539 A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues. DOID:4299|NCIT:C27539|UMLS:C0334257 http://purl.obolibrary.org/obo/MONDO_0002953 infiltrating basal cell carcinoma|infiltrative basal cell carcinoma|skin infiltrating basal cell carcinoma MONDO:0002954 superficial multifocal basal cell carcinoma biolink:Disease mondo UMLS:C0334256|DOID:4300|ICDO:8091/3|NCIT:C4108|SCTID:403914000 A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors. DOID:4300|NCIT:C4108|SNOMEDCT:403914000|UMLS:C0334256 http://purl.obolibrary.org/obo/MONDO_0002954 multifocal superficial basal cell carcinoma|superficial multicentric basal-cell carcinoma|superficial basal cell carcinoma|multifocal superficial basal cell carcinoma (morphologic abnormality)|superficial multifocal basal cell carcinoma|multicentric basal cell carcinoma MONDO:0002955 vulva basal cell carcinoma biolink:Disease mondo Orphanet:494451|DOID:4301|NCIT:C6381|UMLS:C1336977|SCTID:717731002 A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis. UMLS:C1336977|SNOMEDCT:717731002|DOID:4301|ORPHA:494451|NCIT:C6381 http://purl.obolibrary.org/obo/MONDO_0002955 skin basal cell carcinoma of mammalian vulva|basal cell carcinoma of the vulva|basal cell carcinoma of vulva|vulvar basal cell carcinoma|vulvar basal cell cancer|mammalian vulva skin basal cell carcinoma MONDO:0002950 skin clear cell basal cell carcinoma biolink:Disease mondo NCIT:C27536|UMLS:C1516599|DOID:4293 A morphologic variant of basal cell carcinoma characterized by the presence of clear cells. DOID:4293|NCIT:C27536|UMLS:C1516599 http://purl.obolibrary.org/obo/MONDO_0002950 skin clear cell basal cell carcinoma|clear cell basal cell carcinoma MONDO:0002951 skin adenoid basal cell carcinoma biolink:Disease mondo SCTID:402525008|NCIT:C27535|ICDO:8098/3|DOID:4294 A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. DOID:4294|SNOMEDCT:402525008|NCIT:C27535 http://purl.obolibrary.org/obo/MONDO_0002951 adenoid basal cell carcinoma|skin adenoid basal cell carcinoma HGNC:6490 LAMB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6490 MONDO:0014938 aniridia 3 biolink:Disease mondo OMIM:617142 Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene. http://identifiers.org/omim/617142 http://purl.obolibrary.org/obo/MONDO_0014938 AN3|AN3|aniridia 3|aniridia 3; AN3|TRIM44 isolated aniridia|aniridia type 3|isolated aniridia caused by mutation in TRIM44 MONDO:0014937 aniridia 2 biolink:Disease mondo MESH:C536372|OMIM:617141|SCTID:253232000 SNOMEDCT:253232000|MESH:C536372|http://identifiers.org/omim/617141 http://purl.obolibrary.org/obo/MONDO_0014937 AN2|AN2|aniridia 2|aniridia 2; AN2|aniridia type 2 MONDO:0014936 ZTTK syndrome biolink:Disease mondo OMIM:617140|Orphanet:500150|UMLS:C4310696 UMLS:C4310696|ORPHA:500150|http://identifiers.org/omim/617140 http://purl.obolibrary.org/obo/MONDO_0014936 brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome|Tokita-Kim syndrome|ZTTK syndrome; ZTTKS|TOKIMS|ZTTK multiple congenital anomalies-intellectual disability syndrome|ZTTKS|ZTTK multiple congenital anomalies-mental retardation syndrome|Zhu-Tokita-Takenouchi-Kim syndrome ordo_malformation_syndrome MONDO:0014935 frontometaphyseal dysplasia 2 biolink:Disease mondo UMLS:C4310697|OMIM:617137 Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene. UMLS:C4310697|http://identifiers.org/omim/617137 http://purl.obolibrary.org/obo/MONDO_0014935 MAP3K7 frontometaphyseal dysplasia|FMD2|frontometaphyseal dysplasia caused by mutation in MAP3K7|frontometaphyseal dysplasia 2; FMD2|FMD2|Frontometaphyseal dysplasia 2|Frontometaphyseal dysplasia type 2 CHEBI:63510 EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitor biolink:ChemicalSubstance mondo An EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor that interferes with the action of Na(+)/K(+)-transporting ATPase (EC 3.6.3.9). http://purl.obolibrary.org/obo/CHEBI_63510 Na(+)/K(+)-ATPase inhibitors|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitor|Na(+)/K(+)-pump inhibitors|sodium pump inhibitors|sodium-potassium adenosine triphosphatase inhibitor|sodium-potassium adenosine triphosphatase inhibitors|sodium pump inhibitor|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitors|Na(+)/K(+)-pump inhibitor|EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitors|Na(+)/K(+)-ATPase inhibitor|EC 3.6.3.9 inhibitor|Na(+)/K(+)-transporting ATPase inhibitors|sodium-potassium pump inhibitors|Na(+)/K(+)-transporting ATPase inhibitor|sodium-potassium pump inhibitor|EC 3.6.3.9 inhibitors MONDO:0014939 congenital myasthenic syndrome 20 biolink:Disease mondo DOID:0110661|OMIM:617143|UMLS:C4310694 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene. UMLS:C4310694|http://identifiers.org/omim/617143|DOID:0110661 http://purl.obolibrary.org/obo/MONDO_0014939 congenital myasthenic syndrome caused by mutation in SLC5A7|myasthenic syndrome, congenital, 20, presynaptic|myasthenic syndrome, congenital, 20, presynaptic; CMS20|congenital myasthenic syndrome type 20|CMS20|congenital myasthenic syndrome 20 presynaptic|SLC5A7 congenital myasthenic syndrome UBERON:0011574 mesonephric duct lumen biolink:AnatomicalEntity mondo A tube lumen that is part of a mesonephric duct. http://purl.obolibrary.org/obo/UBERON_0011574 cavity of nephric duct|nephric duct lumen HP:0033100 Increased proteinogenic amino acid level in urine biolink:PhenotypicFeature mondo An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/HP_0033100 MONDO:0014941 arthrogryposis, distal, with impaired proprioception and touch biolink:Disease mondo UMLS:C4310692|OMIM:617146 UMLS:C4310692|http://identifiers.org/omim/617146 http://purl.obolibrary.org/obo/MONDO_0014941 arthrogryposis, distal, with impaired proprioception and touch|arthrogryposis, distal, with impaired proprioception and touch; DAIPT|DAIPT MONDO:0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset biolink:Disease mondo UMLS:C4310693|OMIM:617145 UMLS:C4310693|http://identifiers.org/omim/617145 http://purl.obolibrary.org/obo/MONDO_0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP|NADGP|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset CHEBI:38500 EC 1.9.3.1 (cytochrome c oxidase) inhibitor biolink:ChemicalSubstance mondo An EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor that interferes with the action of cytochrome c oxidase (EC 1.9.3.1). http://purl.obolibrary.org/obo/CHEBI_38500 cytochrome aa3 inhibitors|cytochrome-c oxidase inhibitor|CcO inhibitor|cytochrome-c oxidase inhibitors|cytochrome aa3 inhibitor|ferrocytochrome c oxidase inhibitor|mitochondrial complex IV inhibitors|cytochrome c oxidase (EC 1.9.3.1) inhibitors|EC 1.9.3.1 (cytochrome c oxidase) inhibitors|cytochrome c oxidase inhibitor|EC 1.9.3.1 inhibitors|indophenol oxidase inhibitor|complex IV (mitochondrial electron transport) inhibitors|Warburg's respiratory enzyme inhibitor|indophenolase inhibitors|ferrocytochrome-c:oxygen oxidoreductase inhibitor|mitochondrial cytochrome-c oxidase inhibitors|cytochrome oxidase inhibitor|NADH cytochrome c oxidase inhibitors|cytochrome a3 inhibitors|cytochrome a3 inhibitor|NADH cytochrome c oxidase inhibitor|cytochrome oxidase inhibitors|indophenolase inhibitor|ferrocytochrome-c:oxygen oxidoreductase inhibitors|Warburg's respiratory enzyme inhibitors|complex IV (mitochondrial electron transport) inhibitor|cytochrome c oxidase (EC 1.9.3.1) inhibitor|ferrocytochrome c oxidase inhibitors|mitochondrial complex IV inhibitor|cytochrome c oxidase inhibitors|indophenol oxidase inhibitors|EC 1.9.3.1 inhibitor MONDO:0014945 myopathy, distal, with rimmed vacuoles biolink:Disease mondo UMLS:CN239822|OMIM:617158 UMLS:CN239822|http://identifiers.org/omim/617158 http://purl.obolibrary.org/obo/MONDO_0014945 myopathy, distal, with rimmed vacuoles|DMRV|myopathy, distal, with rimmed vacuoles; DMRV|DMRV HP:0033107 Abnormal circulating proteinogenic amino acid concentration biolink:PhenotypicFeature mondo An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/HP_0033107 MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome biolink:Disease mondo UMLS:C4310689|OMIM:617157|Orphanet:464288 UMLS:C4310689|ORPHA:464288|http://identifiers.org/omim/617157 http://purl.obolibrary.org/obo/MONDO_0014944 SBIDDS|short stature, brachydactyly, intellectual developmental disability, and seizures|short stature, brachydactyly, intellectual developmental disability, and seizures; SBIDDS ordo_malformation_syndrome MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type); biolink:Disease mondo DOID:0080337|UMLS:C4310690|OMIM:617156 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene. UMLS:C4310690|DOID:0080337|http://identifiers.org/omim/617156 http://purl.obolibrary.org/obo/MONDO_0014943 mitochondrial DNA depletion syndrome caused by mutation in TFAM|TFAM mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 15 (hepatocerebral type)|mitochondrial DNA depletion syndrome 15 (hepatocerebral type); MTDPS15|MTDPS15 MONDO:0014942 developmental and epileptic encephalopathy, 45 biolink:Disease mondo OMIM:617153|UMLS:C4310691 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene. UMLS:C4310691|http://identifiers.org/omim/617153 http://purl.obolibrary.org/obo/MONDO_0014942 early infantile epileptic encephalopathy caused by mutation in GABRB1|GABRB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 45|epileptic encephalopathy, early infantile, 45; EIEE45|epileptic encephalopathy, early infantile, 45|DEE45|EIEE45 NCBITaxon:157540 Zygodontomys organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_157540 MONDO:0002949 morpheaform basal cell carcinoma biolink:Disease mondo DOID:4292|UMLS:C0555191|NCIT:C27182|SCTID:403913006 A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma. SNOMEDCT:403913006|UMLS:C0555191|DOID:4292|NCIT:C27182 http://purl.obolibrary.org/obo/MONDO_0002949 basal cell carcinoma, morphea|morphea-type basal cell carcinoma|morphea-type (sclerosing) basal cell carcinoma|sclerosing type basal cell carcinoma|skin morphea-type (sclerosing) basal cell carcinoma|morpheaform basal cell carcinoma|cicatricial basal-cell carcinoma|basal cell carcinoma sclerosing type HGNC:6493 LAMC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6493 HGNC:6494 LAMC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6494 MONDO:0002945 micronodular basal cell carcinoma biolink:Disease mondo UMLS:C1367861|NCIT:C27541|DOID:4289|SCTID:402529002 A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back. SNOMEDCT:402529002|DOID:4289|NCIT:C27541|UMLS:C1367861 http://purl.obolibrary.org/obo/MONDO_0002945 skin micronodular basal cell carcinoma MONDO:0002946 gynatresia biolink:Disease mondo EFO:1001335|NCIT:C84743|DOID:429|MESH:D006175|UMLS:C0018414 A congenital or acquired occlusion of an opening in any part of the female genital tract. NCIT:C84743|DOID:429|MESH:D006175|UMLS:C0018414 http://purl.obolibrary.org/obo/MONDO_0002946 MONDO:0002947 adamantinoid basal cell epithelioma biolink:Disease mondo NCIT:C7585|DOID:4290|UMLS:C1304295|SCTID:402524007 UMLS:C1304295|DOID:4290|SNOMEDCT:402524007|NCIT:C7585 http://purl.obolibrary.org/obo/MONDO_0002947 basal cell carcinoma - adamantinoid|melanotic adamantinoma of skin|adamantinoid basal cell carcinoma|skin adamantinoid basal cell carcinoma|skin adamantinoid basal cell epithelioma MONDO:0002948 skin fibroepithelial basal cell carcinoma biolink:Disease mondo SCTID:254703005|DOID:4291|NCIT:C4109|ICDO:8093/3|UMLS:C0346013 A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course. NCIT:C4109|UMLS:C0346013|SNOMEDCT:254703005|DOID:4291 http://purl.obolibrary.org/obo/MONDO_0002948 Pinkus tumor|fibroepithelioma of Pinkus|fibroepithelial basal cell carcinoma|fibroepithelioma of Pinkus type CHEBI:26536 retinoic acid biolink:ChemicalSubstance mondo A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified). http://purl.obolibrary.org/obo/CHEBI_26536 3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid MONDO:0002963 acantholytic acanthoma biolink:Disease mondo DOID:4324|UMLS:C1301270|NCIT:C27517 A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis. DOID:4324|UMLS:C1301270|NCIT:C27517 http://purl.obolibrary.org/obo/MONDO_0002963 acantholytic acanthoma MONDO:0000300 obsolete tungiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000300 CHEBI:26537 retinoid biolink:ChemicalSubstance mondo Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof. http://purl.obolibrary.org/obo/CHEBI_26537 retinoid|retinoids|retinoids MONDO:0002964 obsolete non-Langerhans-cell histiocytosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002964 MONDO:0002965 parovarian cyst biolink:Disease mondo ICD10:Q50.4|ICD10:Q50.5|DOID:4333|UMLS:C0030584|SCTID:64233004|MESH:D010310 A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni). UMLS:C0030584|DOID:4333|MESH:D010310|SNOMEDCT:64233004 http://purl.obolibrary.org/obo/MONDO_0002965 hydatid of Morgagni|cyst, Paratubal|cyst, fimbrial|Morgagni hydatid cyst|cysts, parovarian|cysts, Paratubal|Paratubal cyst|Morgagni Hydatids|Morgagni hydatid|parovarian cysts|cyst, parovarian|Paratubal cysts|parovarian cyst|hydatid cyst of Morgagni|fimbrial cyst|Morgagni hydatid cysts|embryonic fimbrial cyst MONDO:0002966 splenic manifestation of prolymphocytic leukemia biolink:Disease mondo NCIT:C7297|DOID:4334|UMLS:C1336066 A prolymphocytic leukemia that involves the spleen. DOID:4334|NCIT:C7297|UMLS:C1336066 http://purl.obolibrary.org/obo/MONDO_0002966 prolymphocytic leukemia of spleen|splenic manifestation of prolymphocytic leukemia|spleen prolymphocytic leukemia MONDO:0000304 penicilliosis biolink:Disease mondo SCTID:372936000|DOID:0050288|UMLS:C1274008|SCTID:713315007 A disease caused by infection with Talaromyces marneffei. DOID:0050288|SNOMEDCT:713315007|SNOMEDCT:372936000|UMLS:C1274008 http://purl.obolibrary.org/obo/MONDO_0000304 Talaromyces marneffei infectious disease|Talaromyces marneffei caused disease or disorder|infection caused by Penicillium marneffei|Penicillium marneffei infectious disease|infection caused by Talaromyces marneffei|Talaromyces marneffei disease or disorder|infection due to Penicillium marneffei MONDO:0002960 polyradiculopathy biolink:Disease mondo UMLS:C0032586|MESH:D011128|ICD9:356.9|DOID:4307|SCTID:75572007|NCIT:C34934 A radiculopathy that is present in more than one nerve. DOID:4307|MESH:D011128|NCIT:C34934|SNOMEDCT:75572007|UMLS:C0032586 http://purl.obolibrary.org/obo/MONDO_0002960 MONDO:0000303 conidiobolomycosis biolink:Disease mondo SCTID:240783007|DOID:0050279|ICD9:111.8|UMLS:C0276712 DOID:0050279|UMLS:C0276712|SNOMEDCT:240783007 http://purl.obolibrary.org/obo/MONDO_0000303 infection by Conidiobolus|rhinoentomophthoromycosis|Conidiobolus infectious disease MONDO:0000302 basidiobolomycosis biolink:Disease mondo MEDGEN:575966|SCTID:4921002|DOID:0050278|UMLS:C0343965 A disease caused by infection with Basidiobolus. DOID:0050278|UMLS:C0343965|SNOMEDCT:4921002 http://purl.obolibrary.org/obo/MONDO_0000302 basidiobolomycosis|Basidiobolus disease or disorder|Basidiobolus infectious disease|infection caused by Basidiobolus|Basidiobolus caused disease or disorder|infection by Basidiobolus MONDO:0002961 large cell acanthoma biolink:Disease mondo DOID:4321|NCIT:C27518|UMLS:C1334362 DOID:4321|NCIT:C27518|UMLS:C1334362 http://purl.obolibrary.org/obo/MONDO_0002961 MONDO:0000301 ophthalmomyiasis biolink:Disease mondo DOID:0050268|UMLS:C0027034|SCTID:48216006 An myiasis caused by infection with Oestrus ovis. DOID:0050268|SNOMEDCT:48216006|UMLS:C0027034 http://purl.obolibrary.org/obo/MONDO_0000301 ophthalmomyiasis|Oestrus ovis myiasis|Oestrus ovis caused myiasis|ophthalmic myiasis MONDO:0002962 epidermolytic acanthoma biolink:Disease mondo DOID:4323|UMLS:C1333414|NCIT:C27516 A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis. UMLS:C1333414|DOID:4323|NCIT:C27516 http://purl.obolibrary.org/obo/MONDO_0002962 MONDO:0014927 Joubert syndrome 27 biolink:Disease mondo OMIM:617120|DOID:0110996|UMLS:C4310706 Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene. DOID:0110996|UMLS:C4310706|http://identifiers.org/omim/617120 http://purl.obolibrary.org/obo/MONDO_0014927 B9D1 Joubert syndrome|Joubert syndrome caused by mutation in B9D1|Joubert syndrome 27|Joubert syndrome type 27|JBTS27|Joubert syndrome 27; JBTS27 NCBITaxon:157541 Zygodontomys brevicauda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_157541 MONDO:0014926 Bardet-Biedl syndrome 20 biolink:Disease mondo OMIM:617119|UMLS:C4310707 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. UMLS:C4310707|http://identifiers.org/omim/617119 http://purl.obolibrary.org/obo/MONDO_0014926 IFT74 Bardet-Biedl syndrome|BBS20|Bardet-Biedl syndrome caused by mutation in IFT74|Bardet-Biedl syndrome 20|Bardet-Biedl syndrome 20; BBS20|Bardet-Biedl syndrome type 20 MONDO:0014925 epilepsy, familial focal, with variable foci 3 biolink:Disease mondo OMIM:617118|UMLS:C4310708 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene. UMLS:C4310708|http://identifiers.org/omim/617118 http://purl.obolibrary.org/obo/MONDO_0014925 epilepsy, familial focal, with variable foci type 3|NPRL3 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci 3; FFEVF3|epilepsy, familial focal, with variable foci 3|epilepsy, familial focal, with variable foci caused by mutation in NPRL3|FFEVF3 UBERON:0035597 profundal placode biolink:AnatomicalEntity mondo An embryonic structure positioned halfway between the prospective eye and ear, adjacent to the future midbrain-hindbrain boundary. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24. http://purl.obolibrary.org/obo/UBERON_0035597 ophthalmic lobe of trigeminal placode|ophthalmic lobe of trigeminal placode complex|ophthalmic placode|profundus placode MONDO:0014924 epilepsy, familial focal, with variable foci 2 biolink:Disease mondo UMLS:C4310709|OMIM:617116 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene. UMLS:C4310709|http://identifiers.org/omim/617116 http://purl.obolibrary.org/obo/MONDO_0014924 epilepsy, familial focal, with variable foci 2|epilepsy, familial focal, with variable foci 2; FFEVF2|epilepsy, familial focal, with variable foci caused by mutation in NPRL2|FFEVF2|epilepsy, familial focal, with variable foci type 2|NPRL2 epilepsy, familial focal, with variable foci UBERON:0011566 lumen of esophagus biolink:AnatomicalEntity mondo An anatomical cavity that is part of a esophagus. http://purl.obolibrary.org/obo/UBERON_0011566 cavity of eosophagus|eosophagus lumen|esophageal lumen|cavity of esophagus|eosophageal cavity|esophagus lumen|eosophageal lumen|esophageal cavity UBERON:0011565 lumen of gastrointestinal system biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011565 cavity of gastrointestinal tract|gastrointestinal tract lumen|cavity of digestive tract|lumen of gastrointestinal tract MONDO:0014929 retinitis pigmentosa 76 biolink:Disease mondo UMLS:C4310704|OMIM:617123 Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene. UMLS:C4310704|http://identifiers.org/omim/617123 http://purl.obolibrary.org/obo/MONDO_0014929 retinitis pigmentosa type 76|retinitis pigmentosa 76; RP76|RP76|retinitis pigmentosa caused by mutation in POMGNT1|RP76|POMGNT1 retinitis pigmentosa|retinitis pigmentosa 76 MONDO:0014928 Joubert syndrome 28 biolink:Disease mondo UMLS:C4310705|OMIM:617121|DOID:0110997 Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene. DOID:0110997|UMLS:C4310705|http://identifiers.org/omim/617121 http://purl.obolibrary.org/obo/MONDO_0014928 Joubert syndrome caused by mutation in MKS1|Joubert syndrome 28|Joubert syndrome 28; JBTS28|Joubert syndrome type 28|JBTS28|MKS1 Joubert syndrome MONDO:0014930 intellectual disability, autosomal recessive 56 biolink:Disease mondo OMIM:617125|UMLS:C4310703 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene. UMLS:C4310703|http://identifiers.org/omim/617125 http://purl.obolibrary.org/obo/MONDO_0014930 mental retardation, autosomal recessive 56; MRT56|intellectual disability, autosomal recessive 56|mental retardation, autosomal recessive 56|autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14|intellectual disability, autosomal recessive type 56|intellectual disability, autosomal recessive 56; MRT56|mental retardation, autosomal recessive type 56|MRT56|ZC3H14 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 56; MRT56 MONDO:0014934 spinocerebellar ataxia, autosomal recessive 24 biolink:Disease mondo OMIM:617133|UMLS:C4310699 Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. UMLS:C4310699|http://identifiers.org/omim/617133 http://purl.obolibrary.org/obo/MONDO_0014934 UBA5 autosomal dominant cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 24|spinocerebellar ataxia, autosomal recessive 24; SCAR24|SCAR24|spinocerebellar ataxia, autosomal recessive type 24|autosomal dominant cerebellar ataxia caused by mutation in UBA5 MONDO:0014933 developmental and epileptic encephalopathy, 44 biolink:Disease mondo UMLS:C4310700|OMIM:617132 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene. UMLS:C4310700|http://identifiers.org/omim/617132 http://purl.obolibrary.org/obo/MONDO_0014933 epileptic encephalopathy, early infantile, 44|EIEE44|epileptic encephalopathy, early infantile, type 44|UBA5 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in UBA5|DEE44|epileptic encephalopathy, early infantile, 44; EIEE44 MONDO:0014932 orofaciodigital syndrome XV biolink:Disease mondo UMLS:C4310701|OMIM:617127 UMLS:C4310701|http://identifiers.org/omim/617127 http://purl.obolibrary.org/obo/MONDO_0014932 oral-Facial-digital syndrome, type 15|orofaciodigital syndrome type XV|orofaciodigital syndrome 15|orofaciodigital syndrome XV; OFD15|orofaciodigital syndrome XV|OFD15|Ofds 15 MONDO:0014931 Alazami-Yuan syndrome biolink:Disease mondo OMIM:617126|UMLS:C4310702 UMLS:C4310702|http://identifiers.org/omim/617126 http://purl.obolibrary.org/obo/MONDO_0014931 Alazami-Yuan syndrome|Alazami-Yuan syndrome; ALYUS|ALYUS HP:0011747 Abnormality of the anterior pituitary biolink:PhenotypicFeature mondo SNOMEDCT_US:399244003|UMLS:C0032002|MSH:D010900|UMLS:C4023206 An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. http://purl.obolibrary.org/obo/HP_0011747 Pituitary disease MONDO:0002956 skin cystic basal cell carcinoma biolink:Disease mondo NCIT:C27537|UMLS:C1275193|DOID:4302|SCTID:403912001 SNOMEDCT:403912001|DOID:4302|UMLS:C1275193|NCIT:C27537 http://purl.obolibrary.org/obo/MONDO_0002956 cystic basal cell carcinoma|skin cystic basal cell carcinoma MONDO:0002957 sarcomatoid basal cell carcinoma biolink:Disease mondo NCIT:C38111|DOID:4303|UMLS:C1519182 DOID:4303|UMLS:C1519182|NCIT:C38111 http://purl.obolibrary.org/obo/MONDO_0002957 skin sarcomatoid basal cell carcinoma MONDO:0002958 signet ring basal cell carcinoma biolink:Disease mondo UMLS:C1519320|NCIT:C38110|DOID:4304 DOID:4304|UMLS:C1519320|NCIT:C38110 http://purl.obolibrary.org/obo/MONDO_0002958 signet Ring cell basal cell carcinoma|skin signet Ring cell basal cell carcinoma|skin signet ring cell basal cell carcinoma MONDO:0002959 radiculopathy biolink:Disease mondo UMLS:C0700594|DOID:4306|ICD10:M54.1|MESH:D011843|ICD10:M54.10|SCTID:72274001 Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root. SNOMEDCT:72274001|UMLS:C0700594|DOID:4306|MESH:D011843 http://purl.obolibrary.org/obo/MONDO_0002959 nerve root disorder|nerve root disorder, NOS MONDO:0024322 disorder of glycosylation biolink:Disease mondo A disease that has its basis in the disruption of glycosylation. http://purl.obolibrary.org/obo/MONDO_0024322 glycosylation disease|disorder of glycosylation MONDO:0000355 Ullrich congenital muscular dystrophy biolink:Disease mondo UMLS:C0410179|Orphanet:75840|MESH:C537521|NCIT:C123438|ICD10:G71.2|OMIMPS:254090|SCTID:240062007|DOID:0050558|GARD:0004769 Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. SNOMEDCT:240062007|NCIT:C123438|UMLS:C0410179|ORPHA:75840|MESH:C537521|DOID:0050558 http://purl.obolibrary.org/obo/MONDO_0000355 scleroatonic muscular dystrophy|Ullrich disease|late onset scleroatonic familial myopathy (subtype)|UCMD|Ullrich scleroatonic muscular dystrophy|scleroatonic Ullrich disease|congenital muscular dystrophy, Ullrich type ordo_disease|gard_rare MONDO:0024321 disorder of GPI anchor biosynthesis biolink:Disease mondo A disease that has its basis in the disruption of GPI anchor biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0024321 GPI anchor biosynthetic process disease|GPIBD|glycosylphosphatidylinositol biosynthesis defect|disorder of GPI anchor biosynthetic process NCBITaxon:4857 Entomophthorales organism taxon mondo PMID:17572334|PMID:17051209|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4857 MONDO:0000354 obsolete JMP syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000354 MONDO:0000353 obsolete Saldino-Noonan syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000353 MONDO:0024323 glomangiomyoma biolink:Disease mondo NCIT:C4223|UMLS:C0334422|DOID:8020|ICDO:8713/0 A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle. DOID:8020|NCIT:C4223|UMLS:C0334422 http://purl.obolibrary.org/obo/MONDO_0024323 glomangiomyoma MONDO:0000352 obsolete hereditary sensory neuropathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000352 MONDO:0024326 pleural adenomatoid tumor biolink:Disease mondo NCIT:C4499 A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma. NCIT:C4499 http://purl.obolibrary.org/obo/MONDO_0024326 pleural benign mesothelioma|pleura adenomatoid tumor|pleural mesothelioma, benign|pleural adenomatoid tumor|benign mesothelioma of pleura|benign mesothelioma of the pleura MONDO:0000359 spondylocostal dysostosis biolink:Disease mondo GARD:0006798|MESH:C537565|GARD:0012174|GARD:0010726|OMIMPS:277300|NCIT:C125598|DOID:0050568|UMLS:CN201467 Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital). DOID:0050568|NCIT:C125598|UMLS:CN201467|MESH:C537565 http://purl.obolibrary.org/obo/MONDO_0000359 spondylocostal dysplasia|spondylothoracic dysplasia|SCD|spondylothoracic dysostosis|Jarcho-Levin syndrome|spondylocostal dysostosis|SCDO|costovertebral dysplasia MONDO:0000358 orofacial cleft biolink:Disease mondo OMIMPS:119530|SCTID:449790007|DOID:0050567|UMLS:CN221583 SNOMEDCT:449790007|UMLS:CN221583|DOID:0050567 http://purl.obolibrary.org/obo/MONDO_0000358 clingen MONDO:0024325 cutaneous glomangiomyoma biolink:Disease mondo UMLS:C1275227|SCTID:403971002|ICD9:227.6 A glomangiomyoma that involves the zone of skin. UMLS:C1275227|SNOMEDCT:403971002 http://purl.obolibrary.org/obo/MONDO_0024325 zone of skin glomangiomyoma|glomangiomyoma of skin MONDO:0000357 obsolete West syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000357 MONDO:0024327 chronic renal failure syndrome biolink:Disease mondo MESH:D051436|SCTID:90688005|NCIT:C9438|ICD9:585.9 Impairment of the renal function due to chronic kidney damage. SNOMEDCT:90688005|MESH:D051436|NCIT:C9438 http://purl.obolibrary.org/obo/MONDO_0024327 chronic renal failure|chronic renal failure disease|CRF - chronic renal failure|Chronic renal disease|kidney failure, chronic|chronic kidney failure MONDO:0000356 obsolete Walker-Warburg syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000356 MONDO:0012339 celiac disease, susceptibility to, 4 biolink:Disease mondo OMIM:609753 Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene. http://identifiers.org/omim/609753 http://purl.obolibrary.org/obo/MONDO_0012339 susceptibility to celiac disease 4|celiac disease, susceptibility to, 4|MYO9B celiac disease|celiac disease, susceptibility to, 4; CELIAC4|celiac disease, susceptibility to, type 4|gluten-sensitive enteropathy, susceptibility to, 4|CELIAC4|celiac disease caused by mutation in MYO9B predisposition MONDO:0000351 disorder of methionine catabolism biolink:Disease mondo HP:0003235|SCTID:43123004|DOID:0050544|UMLS:C4048705 An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process. UMLS:C4048705|SNOMEDCT:43123004|DOID:0050544 http://purl.obolibrary.org/obo/MONDO_0000351 inborn error of methionine catabolic process|rare inborn error of methionine catabolic process|rare inborn error of methionine catabolic process|hypermethioninemia|inborn methionine catabolic process disorder MONDO:0000350 obsolete Charcot-Marie-Tooth disease intermediate type biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000350 MONDO:0024320 inner ear neoplasm biolink:Disease mondo UMLS:C1512779|NCIT:C39784 A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma. NCIT:C39784|UMLS:C1512779 http://purl.obolibrary.org/obo/MONDO_0024320 inner Ear neoplasm|neoplasm of internal ear|internal ear neoplasm|internal ear tumor|internal Ear neoplasm|tumor of internal ear|internal ear neoplasm (disease) NCBITaxon:4858 Basidiobolaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4858 NCBITaxon:4859 Basidiobolus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4859 UBERON:0035523 anterior surface of prostate biolink:AnatomicalEntity mondo The aspect of the prostate facing the pubic symphysis. http://purl.obolibrary.org/obo/UBERON_0035523 facies anterior (prostatae)|anterior surface of prostate gland|facies anterior prostatae MONDO:0012344 Alzheimer disease 11 biolink:Disease mondo DOID:0110044|MESH:C565228|ICD10:G30|UMLS:C1853360|OMIM:609790 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. UMLS:C1853360|http://identifiers.org/omim/609790|MESH:C565228|DOID:0110044 http://purl.obolibrary.org/obo/MONDO_0012344 Alzheimer's disease 11|AD11|Ad11|Alzheimer's disease type 11|Alzheimer disease 11|Alzheimer disease, familial, 11|Alzheimer disease type 11 MONDO:0012345 acral peeling skin syndrome biolink:Disease mondo OMIM:609796|Orphanet:263534|UMLS:C1853354|MESH:C536316|ICD10:Q80.8|GARD:0012863|SCTID:709416009 Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. UMLS:C1853354|SNOMEDCT:709416009|ORPHA:263534|http://identifiers.org/omim/609796|MESH:C536316 http://purl.obolibrary.org/obo/MONDO_0012345 peeling skin syndrome type 2|acral peeling skin syndrome|peeling skin syndrome 2|localized deciduous skin|acral deciduous skin|peeling skin syndrome 2; PSS2|localized PSS|acral PSS|PSS2|peeling skin syndrome, acral type gard_rare|ordo_disease MONDO:0012342 7q11.23 microduplication syndrome biolink:Disease mondo Orphanet:96121|ICD10:Q92.3|GARD:0012076|MESH:C565723|UMLS:C1857844|SCTID:726707004|UMLS:C4512054|OMIM:609757 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. SNOMEDCT:726707004|http://identifiers.org/omim/609757|UMLS:C1857844|ORPHA:96121|MESH:C565723|UMLS:C4512054 http://purl.obolibrary.org/obo/MONDO_0012342 7q11.23 duplication syndrome|trisomy 7q11.23|Somerville-Van Der Aa syndrome|Wbs Duplication syndrome|chromosome 7Q11.23 triplication syndrome|chromosome 7Q11.23 Duplication syndrome|Wbs triplication syndrome|dup(7)(q11.23)|Williams-Beuren region DUPLICATION syndrome ordo_malformation_syndrome MONDO:0012343 AAA2 biolink:Disease mondo MESH:C565229|OMIM:609782|UMLS:C1853364 UMLS:C1853364|http://identifiers.org/omim/609782|MESH:C565229 http://purl.obolibrary.org/obo/MONDO_0012343 aortic aneurysm, familial abdominal, 2|AAA2|aortic aneurysm, familial abdominal, 2; AAA2 MONDO:0012348 maturity-onset diabetes of the young type 8 biolink:Disease mondo SCTID:609575003|OMIM:609812|DOID:0111105|MESH:C565225|GARD:0010662 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene. SNOMEDCT:609575003|http://identifiers.org/omim/609812|MESH:C565225|DOID:0111105 http://purl.obolibrary.org/obo/MONDO_0012348 MODY type 8|maturity-onset diabetes of the young (disease) caused by mutation in CEL|diabetes and pancreatic exocrine dysfunction|type 8 maturity-onset diabetes of the young|diabetes and pancreatic exocrine|maturity-onset diabetes of the young, type 8, with exocrine dysfunction|DPED|maturity-onset diabetes of the young type 8 with exocrine dysfunction|maturity-onset diabetes of the young, type 8|MODY8|diabetes-pancreatic exocrine dysfunction syndrome|diabetes mellitus MODY type 8|maturity-onset diabetes of the young, type 8, with exocrine dysfunction; MODY8|CEL maturity-onset diabetes of the young (disease) gard_rare MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive biolink:Disease mondo OMIM:609813|GARD:0004973|UMLS:C1853296 Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene. UMLS:C1853296|http://identifiers.org/omim/609813 http://purl.obolibrary.org/obo/MONDO_0012349 spondylocostal dysostosis 3, autosomal recessive|SCDO3|spondylocostal dysostosis 3, autosomal recessive; SCDO3|LFNG autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in LFNG|SCOD3|spondylocostal dysostosis 3 MONDO:0012346 GEFSP4 biolink:Disease mondo UMLS:C1853345|OMIM:609800|MESH:C565227 UMLS:C1853345|http://identifiers.org/omim/609800|MESH:C565227 http://purl.obolibrary.org/obo/MONDO_0012346 generalized epilepsy with febrile seizures plus, type 4|GEFSP4|generalized epilepsy with febrile seizures plus, type 4; GEFSP4|Gefs+, type 4 MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous biolink:Disease mondo OMIM:609808|MESH:C565226|UMLS:C1853298 UMLS:C1853298|http://identifiers.org/omim/609808|MESH:C565226 http://purl.obolibrary.org/obo/MONDO_0012347 Pcfh|hamartoma, Precalcaneal congenital fibrolipomatous MONDO:0024318 viral infection of central nervous system biolink:Disease mondo SCTID:302810003|MESH:D020805|UMLS:C0348165|ICD10:A80.A89 UMLS:C0348165|MESH:D020805|SNOMEDCT:302810003 http://purl.obolibrary.org/obo/MONDO_0024318 central nervous system viral infection|viral infection of central nervous system|viral disease of central nervous system MONDO:0000349 obsolete Charcot-Marie-Tooth disease type 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000349 MONDO:0012340 CELIAC2 biolink:Disease mondo OMIM:609754 http://identifiers.org/omim/609754 http://purl.obolibrary.org/obo/MONDO_0012340 celiac disease, susceptibility to, 2|CELIAC2|gluten-sensitive enteropathy, susceptibility to, 2|celiac disease, susceptibility to, 2; CELIAC2 predisposition MONDO:0012341 celiac disease, susceptibility to, 3 biolink:Disease mondo OMIM:609755 Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene. http://identifiers.org/omim/609755 http://purl.obolibrary.org/obo/MONDO_0012341 CTLA4 celiac disease|celiac disease, susceptibility to, 3; CELIAC3|celiac disease, susceptibility to, type 3|CELIAC3|celiac disease caused by mutation in CTLA4|gluten-sensitive enteropathy, susceptibility to, 3|susceptibility to celiac disease 3|celiac disease, susceptibility to, 3 predisposition MONDO:0000366 obsolete glycogen storage disease IX biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000366 MONDO:0024311 cancer affecting bone of limb skeleton biolink:Disease mondo ICD10:C40 A cancer that involves the limb bone. http://purl.obolibrary.org/obo/MONDO_0024311 malignant neoplasm of limb bone|cancer of limb bone|limb bone cancer|malignant limb bone neoplasm MONDO:0000365 primary congenital glaucoma (disease) biolink:Disease mondo UMLS:C1533041|SCTID:415176004|DOID:0050593|HP:0008007|NCIT:C150251|UMLS:C3888011 Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs. SNOMEDCT:415176004|UMLS:C1533041|UMLS:C3888011|NCIT:C150251|DOID:0050593 http://purl.obolibrary.org/obo/MONDO_0000365 primary congenital glaucoma MONDO:0024310 angiodysplasia of stomach biolink:Disease mondo UMLS:C0744273|SCTID:424802006 A angiodysplasia that involves the stomach. UMLS:C0744273|SNOMEDCT:424802006 http://purl.obolibrary.org/obo/MONDO_0024310 gastric vascular dysplasia|stomach angiodysplasia|gastric angiodysplasia MONDO:0024313 staphylococcal infection biolink:Disease mondo NCIT:C35038|MESH:D013203|SCTID:56038003 An infection caused by Staphylococcus. SNOMEDCT:56038003|NCIT:C35038|MESH:D013203 http://purl.obolibrary.org/obo/MONDO_0024313 staphylococcal infection MONDO:0000364 obsolete severe congenital neutropenia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000364 MONDO:0000363 gummatous syphilis biolink:Disease mondo DOID:0050584 A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. DOID:0050584 http://purl.obolibrary.org/obo/MONDO_0000363 MONDO:0024312 cancer of short bone of upper limb biolink:Disease mondo ICD10:C40.1 http://purl.obolibrary.org/obo/MONDO_0024312 MONDO:0024315 parasitic endophthalmitis biolink:Disease mondo ICD9:360.13|UMLS:C0014238|SCTID:57100005|NCIT:C34587 Infection of the epicondyles by a parasite. NCIT:C34587|SNOMEDCT:57100005|UMLS:C0014238 http://purl.obolibrary.org/obo/MONDO_0024315 parasitic endophthalmitis MONDO:0024314 parasitemia biolink:Disease mondo UMLS:C0242723|MESH:D018512 The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed) MESH:D018512|UMLS:C0242723 http://purl.obolibrary.org/obo/MONDO_0024314 Parasitemias MONDO:0000369 abdominal tuberculosis biolink:Disease mondo SCTID:447330002|UMLS:C0740652|ICD9:014.80|DOID:0050599 An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas. SNOMEDCT:447330002|UMLS:C0740652|DOID:0050599 http://purl.obolibrary.org/obo/MONDO_0000369 tuberculosis of abdomen MONDO:0000368 extrapulmonary tuberculosis biolink:Disease mondo UMLS:C0679362|SCTID:423997002|DOID:0050598 A tuberculosis that occurs at body sites other than the lung. UMLS:C0679362|DOID:0050598|SNOMEDCT:423997002 http://purl.obolibrary.org/obo/MONDO_0000368 MONDO:0024317 chronic pain syndrome biolink:Disease mondo SCTID:373621006|ICD10:G89.4|UMLS:C1298685|ICD9:338.4 Chronic form of disorder involving pain. SNOMEDCT:373621006|UMLS:C1298685 http://purl.obolibrary.org/obo/MONDO_0024317 chronic pain disease|disorder involving pain, chronic|chronic disorder involving pain MONDO:0024316 physiological malfunction arising from mental factor biolink:Disease mondo NCIT:C35186|UMLS:C0154548 A dysfunction in biological function that is due to a psychological process. UMLS:C0154548|NCIT:C35186 http://purl.obolibrary.org/obo/MONDO_0024316 physiological malfunction arising from mental Factor MONDO:0000367 taeniasis biolink:Disease mondo MESH:D013622|ICD10:B68.1|UMLS:C0152073|EFO:1001433|SCTID:69163003|ICD9:123.2|NCIT:C85180|DOID:0050596|ICD10:B68 A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea. NCIT:C85180|UMLS:C0152073|MESH:D013622|DOID:0050596|SNOMEDCT:69163003 http://purl.obolibrary.org/obo/MONDO_0000367 Taenia infection|taenia saginata infection|infections, Taenia|infection by Taeniarhynchus saginatus|infection by taenia saginata|unarmed tapeworm infection|beef tapeworm infection|Taenia saginata infectious disease MONDO:0012328 trichilemmal cyst biolink:Disease mondo SCTID:254677004|OMIM:609649|UMLS:C1864801|UMLS:C2266788|COHD:4115282 SNOMEDCT:254677004|UMLS:C2266788|UMLS:C1864801|http://identifiers.org/omim/609649 http://purl.obolibrary.org/obo/MONDO_0012328 trichilemmal cyst 1|Tricholemmal cyst|Pilar cyst|trichilemmal cyst 1; TRICY1|TRICY1 MONDO:0012329 short stature and Facioauriculothoracic malformations biolink:Disease mondo MESH:C566457|UMLS:C1864791|OMIM:609654 MESH:C566457|UMLS:C1864791|http://identifiers.org/omim/609654 http://purl.obolibrary.org/obo/MONDO_0012329 short stature and Facioauriculothoracic malformations MONDO:0000362 obsolete Sensenbrenner syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000362 MONDO:0000361 obsolete d-2-hydroxyglutaric aciduria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000361 MONDO:0000360 obsolete 2-hydroxyglutaric aciduria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000360 MONDO:0012333 autosomal recessive nonsyndromic deafness 53 biolink:Disease mondo MESH:C566453|UMLS:C1864746|ICD10:H90.3|OMIM:609706|DOID:0110509 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. DOID:0110509|UMLS:C1864746|http://identifiers.org/omim/609706|MESH:C566453 http://purl.obolibrary.org/obo/MONDO_0012333 autosomal recessive nonsyndromic deafness type 53|COL11A2 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 53|autosomal recessive nonsyndromic deafness caused by mutation in COL11A2|deafness, autosomal recessive type 53|deafness, autosomal recessive 53|DFNB53|deafness, autosomal recessive 53; DFNB53 MONDO:0014996 intellectual disability, autosomal recessive 58 biolink:Disease mondo GARD:0013361|UMLS:C4310641|OMIM:617270 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene. http://identifiers.org/omim/617270|UMLS:C4310641 http://purl.obolibrary.org/obo/MONDO_0014996 intellectual disability, autosomal recessive 58; MRT58|mental retardation, autosomal recessive 58; MRT58|intellectual disability, autosomal recessive type 58|ELP2-related disorder|mental retardation, autosomal recessive 58|autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2|autosomal recessive intellectual disability 58|intellectual disability, autosomal recessive 58; MRT58|mental retardation, autosomal recessive type 58|MRT58|ELP2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 58 MONDO:0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language biolink:Disease mondo OMIM:617268|UMLS:C4310643 http://identifiers.org/omim/617268|UMLS:C4310643 http://purl.obolibrary.org/obo/MONDO_0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL|neurodevelopmental disorder with hypotonia, seizures, and absent language|NDHSAL MONDO:0012334 hereditary spastic paraplegia 29 biolink:Disease mondo GARD:0009729|OMIM:609727|Orphanet:101009|UMLS:C1857855|SCTID:733029008|DOID:0110780|ICD10:G11.4|MESH:C536863 Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. MESH:C536863|SNOMEDCT:733029008|DOID:0110780|ORPHA:101009|http://identifiers.org/omim/609727|UMLS:C1857855 http://purl.obolibrary.org/obo/MONDO_0012334 spastic paraplegia 29, autosomal dominant; SPG29|autosomal dominant spastic paraplegia 29|spastic paraplegia 29, autosomal dominant|SPG29|spastic paraplegia 29|hereditary spastic paraplegia type 29|autosomal dominant spastic paraplegia type 29 ordo_disease MONDO:0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies biolink:Disease mondo UMLS:C4310644|OMIM:617260 http://identifiers.org/omim/617260|UMLS:C4310644 http://purl.obolibrary.org/obo/MONDO_0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF|global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies|GDACCF MONDO:0012331 migraine with aura, susceptibility to, 9 biolink:Disease mondo OMIM:609670 http://identifiers.org/omim/609670 http://purl.obolibrary.org/obo/MONDO_0012331 Mgr9|migraine with aura, susceptibility to, 9|migraine with aura, susceptibility to, type 9 predisposition MONDO:0014993 myofibrillar myopathy 8 biolink:Disease mondo OMIM:617258|DOID:0080308|UMLS:C4310645 Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene. UMLS:C4310645|DOID:0080308|http://identifiers.org/omim/617258 http://purl.obolibrary.org/obo/MONDO_0014993 myopathy, myofibrillar, 8|MFM8|myofibrillar myopathy (disease) caused by mutation in PYROXD1|myopathy, myofibrillar, type 8|PYROXD1 myofibrillar myopathy (disease)|myopathy, myofibrillar, 8; MFM8 MONDO:0012332 short stature-delayed bone age due to thyroid hormone metabolism deficiency biolink:Disease mondo ICD10:E03.1|OMIM:609698|UMLS:C1864761|Orphanet:171706|MESH:C566454 Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. UMLS:C1864761|ORPHA:171706|http://identifiers.org/omim/609698|MESH:C566454 http://purl.obolibrary.org/obo/MONDO_0012332 thyroid hormone metabolism, abnormal ordo_disease MONDO:0012337 GLC1I biolink:Disease mondo OMIM:609745|UMLS:C1857852|MESH:C565724 MESH:C565724|http://identifiers.org/omim/609745|UMLS:C1857852 http://purl.obolibrary.org/obo/MONDO_0012337 GLC1I|glaucoma 1, open angle, I; GLC1I|glaucoma 1, open angle, I MONDO:0014999 tooth agenesis, selective, 9 biolink:Disease mondo OMIM:617275 Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene. http://identifiers.org/omim/617275 http://purl.obolibrary.org/obo/MONDO_0014999 GREM2 tooth agenesis|STHAG9|tooth agenesis, selective, 9; STHAG9|tooth agenesis, selective, type 9|tooth agenesis caused by mutation in GREM2|tooth agenesis, selective, 9 MONDO:0012338 EIG4 biolink:Disease mondo OMIM:609750 http://identifiers.org/omim/609750 http://purl.obolibrary.org/obo/MONDO_0012338 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10|epilepsy, idiopathic generalized, susceptibility to, 4|epilepsy, idiopathic generalized, susceptibility to, 4; EIG4|EIG4 predisposition UBERON:0035529 left common iliac artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035529 trunk of left common iliac arterial tree MONDO:0012335 obesity due to pro-opiomelanocortin deficiency biolink:Disease mondo OMIM:609734|ICD10:E66.8|ICD9:255.5|MESH:C565726|Orphanet:71526|UMLS:C1857854|GARD:0010823|SCTID:702949005 Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin. MESH:C565726|ORPHA:71526|SNOMEDCT:702949005|http://identifiers.org/omim/609734|UMLS:C1857854 http://purl.obolibrary.org/obo/MONDO_0012335 obesity, early-onset, with adrenal insufficiency and Red hair|POMC deficiency|obesity, early-onset, adrenal insufficiency, and Red hair|OBAIRH|obesity, early-onset, with adrenal insufficiency and RED hair; OBAIRH|PROOPIOMELANOCORTIN deficiency ordo_malformation_syndrome MONDO:0014998 glaucoma 3, primary congenital, E biolink:Disease mondo UMLS:C4310639|OMIM:617272 http://identifiers.org/omim/617272|UMLS:C4310639 http://purl.obolibrary.org/obo/MONDO_0014998 GLC3E|glaucoma 3, primary congenital, E; GLC3E|glaucoma 3, primary congenital, E|glaucoma 3, primary congenital, type E MONDO:0012336 cataract 22 multiple types biolink:Disease mondo UMLS:C1857853|DOID:0110268|OMIM:609741|MESH:C565725|ICD10:Q12.0 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene. DOID:0110268|MESH:C565725|http://identifiers.org/omim/609741|UMLS:C1857853 http://purl.obolibrary.org/obo/MONDO_0012336 early-onset non-syndromic cataract caused by mutation in CRYBB3|cataract 22, multiple types|CTRCT22|cataract 22, multiple types; CTRCT22|autosomal recessive congenital nuclear cataract 2|CRYBB3 early-onset non-syndromic cataract|cataract, congenital nuclear, autosomal recessive 2|CATCN2 MONDO:0014997 nephronophthisis 20 biolink:Disease mondo DOID:0111127|UMLS:C4310640|OMIM:617271 Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. http://identifiers.org/omim/617271|UMLS:C4310640|DOID:0111127 http://purl.obolibrary.org/obo/MONDO_0014997 nephronophthisis 20|nephronophthisis type 20|NPHP20|nephronophthisis 20; NPHP20|MAPKBP1 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in MAPKBP1 HP:0008169 Reduced factor VII activity biolink:PhenotypicFeature mondo SNOMEDCT_US:37193007|UMLS:C4024722|UMLS:C0015503|MSH:D005168 Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. http://purl.obolibrary.org/obo/HP_0008169 Factor VII deficiency MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) biolink:Disease mondo ICD9:757.39|SCTID:252246005 An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. SNOMEDCT:252246005 http://purl.obolibrary.org/obo/MONDO_0024308 PXE|pseudoxanthoma elasticum MONDO:0024307 prothrombin deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024307 MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A biolink:Disease mondo DOID:0070155|OMIM:201300 A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13 http://identifiers.org/omim/201300|DOID:0070155 http://purl.obolibrary.org/obo/MONDO_0024309 HSAN2A|HSAN 2A|hereditary sensory and autonomic neuropathy type 2A|acroosteolysis, Giaccai type|acroosteolysis, neurogenic|Morvan disease|neuropathy, progressive sensory, of children|neuropathy, hereditary sensory and autonomic, type IIA; HSAN2A|hereditary sensory and autonomic neuropathy type IIA|HSN 2A|neuropathy, hereditary sensory, type 2A|neuropathy, hereditary sensory radicular, autosomal recessive|neuropathy, congenital sensory MONDO:0014992 lissencephaly 8 biolink:Disease mondo OMIM:617255|UMLS:C4310646 Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene. UMLS:C4310646|http://identifiers.org/omim/617255 http://purl.obolibrary.org/obo/MONDO_0014992 lissencephaly type 8|lissencephaly 8|LIS8|lissencephaly (disease) caused by mutation in TMTC3|LIS8|lissencephaly 8; LIS8|TMTC3 lissencephaly (disease) MONDO:0012330 talo-patello-scaphoid osteolysis biolink:Disease mondo OMIM:609655|MESH:C536894|UMLS:C1864784|GARD:0010061|Orphanet:50809 Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested. UMLS:C1864784|http://identifiers.org/omim/609655|ORPHA:50809|MESH:C536894 http://purl.obolibrary.org/obo/MONDO_0012330 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals|singh-Williams-McAlister syndrome ordo_malformation_syndrome MONDO:0014991 Seckel syndrome 10 biolink:Disease mondo UMLS:C4310647|DOID:0070008|OMIM:617253 Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene. DOID:0070008|UMLS:C4310647|http://identifiers.org/omim/617253 http://purl.obolibrary.org/obo/MONDO_0014991 SCKL10|Seckel syndrome 10; SCKL10|Seckel syndrome 10|NSMCE2 Seckel syndrome|Seckel syndrome caused by mutation in NSMCE2|Seckel syndrome type 10 MONDO:0014990 uncombable hair syndrome 3 biolink:Disease mondo UMLS:C4310648|OMIM:617252 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene. UMLS:C4310648|http://identifiers.org/omim/617252 http://purl.obolibrary.org/obo/MONDO_0014990 UHS3|uncombable hair syndrome 3; UHS3|uncombable hair syndrome type 3|uncombable hair syndrome caused by mutation in TCHH|UHS3|TCHH uncombable hair syndrome|uncombable hair syndrome 3 MONDO:0000333 early congenital syphilis biolink:Disease mondo ICD9:090.2|DOID:0050488|UMLS:C0275859|COHD:436632|SCTID:4359001 A congenital syphilis that is manifested between 0 and 2 years old. DOID:0050488|UMLS:C0275859|SNOMEDCT:4359001 http://purl.obolibrary.org/obo/MONDO_0000333 Early congenital syphilis (less than 2 years) MONDO:0002996 cavernous sinus meningioma biolink:Disease mondo NCIT:C5268|DOID:4435|UMLS:C1332865 A meningioma that affects the cavernous sinus. DOID:4435|NCIT:C5268|UMLS:C1332865 http://purl.obolibrary.org/obo/MONDO_0002996 meningioma (disease) of cavernous sinus|meningioma of cavernous sinus|meningioma of the cavernous sinus|cavernous sinus meningioma (disease) MONDO:0024300 hypophosphatemic rickets biolink:Disease mondo NCIT:C131449|MESH:D063730 Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. NCIT:C131449|MESH:D063730 http://purl.obolibrary.org/obo/MONDO_0024300 hypophosphatemia, vitamin D-resistant rickets|acquired vitamin D resistant rickets|Phosphopenic rickets|Ricket, hypophosphatemic|hypophosphatemic rickets|hypophosphatemic Ricket|hypophosphatemic vitamin D-resistant rickets|rickets, vitamin D-resistant|acquired vitamin D-resistant rickets|vitamin D-resistant rickets|hypophosphatemic vitamin D resistant rickets|rickets, vitamin D resistant MONDO:0000332 sennetsu fever biolink:Disease mondo DOID:0050485|GARD:0000120|UMLS:C0520779|SCTID:21013006|MESH:C537582|ICD9:088.89 An ehlrichiosis caused by Neorickettsia sennetsu. DOID:0050485|SNOMEDCT:21013006|UMLS:C0520779|MESH:C537582 http://purl.obolibrary.org/obo/MONDO_0000332 Neorickettsia sennetsu disease or disorder|Neorickettsia sennetsu infectious disease|Neorickettsia sennetsu caused disease or disorder|sennetsu fever|Human Ehrlichial infection, sennetsu type|sennetsu ehrlichiosis gard_rare MONDO:0002997 anterior cranial fossa meningioma biolink:Disease mondo NCIT:C5286|UMLS:C1332301|DOID:4436 A meningioma that affects the anterior cranial fossa. DOID:4436|NCIT:C5286|UMLS:C1332301 http://purl.obolibrary.org/obo/MONDO_0002997 meningioma of anterior fossa|meningioma of the anterior fossa|meningioma (disease) of anterior cranial fossa|anterior cranial fossa meningioma (disease)|meningioma of anterior cranial fossa|meningioma of the anterior cranial fossa|anterior fossa meningioma HP:0011792 Neoplasm by histology biolink:PhenotypicFeature mondo UMLS:C4023186 Neoplasm categorized according to type of histological abnormality. http://purl.obolibrary.org/obo/HP_0011792 MONDO:0002998 skull base meningioma biolink:Disease mondo UMLS:C1335976|NCIT:C5272|DOID:4437 A meningioma that arises from the skull base. DOID:4437|NCIT:C5272|UMLS:C1335976 http://purl.obolibrary.org/obo/MONDO_0002998 meningioma of skull base|basicranium meningioma (disease)|meningioma (disease) of basicranium|meningioma of the skull base|skull base meningioma MONDO:0024302 internal hirudiniasis biolink:Disease mondo SCTID:187227006|ICD10:B83.4|UMLS:C0348999 A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx. SNOMEDCT:187227006|UMLS:C0348999 http://purl.obolibrary.org/obo/MONDO_0024302 MONDO:0000331 Rickettsia helvetica spotted fever biolink:Disease mondo DOID:0050484 A disease caused by infection with Rickettsia helvetica. DOID:0050484 http://purl.obolibrary.org/obo/MONDO_0000331 Rickettsia helvetica infectious disease|Rickettsia helvetica disease or disorder|Rickettsia helvetica caused disease or disorder|aneruptive fever|Rickettsia helvetica aneruptive fever HP:0011793 Neoplasm by anatomical site biolink:PhenotypicFeature mondo UMLS:C4023185 Neoplasm categorized according to the anatomical site of origin of the neoplasm. http://purl.obolibrary.org/obo/HP_0011793 MONDO:0000330 endemic typhus biolink:Disease mondo NCIT:C84688|UMLS:CN206047|DOID:0050481|MESH:D014437|MedDRA:10028282|Orphanet:83315|ICD10:A75.2 A bacterial infection caused by Rickettsia typhi. UMLS:CN206047|MEDDRA:10028282|ORPHA:83315|NCIT:C84688|MESH:D014437|DOID:0050481 http://purl.obolibrary.org/obo/MONDO_0000330 endemic typhus Fever|toulon typhus|urban typhus|cat flea rickettsiosis|endemic flea-borne typhus|urban typhus of Malaya|shop typhus|rat-flea typhus|fleaborne typhus|Rickettsia felis spotted fever|endemic typhus Fever|murine typhus ordo_disease MONDO:0002999 central nervous system germinoma biolink:Disease mondo NCIT:C7009|DOID:4438 A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO) NCIT:C7009|DOID:4438 http://purl.obolibrary.org/obo/MONDO_0002999 germinoma of central nervous system|intracranial germinoma|central nervous system germinoma (disease)|germinoma of the central nervous system|central nervous system germinoma|germinoma of CNS|germinoma of the CNS ordo_clinical_subtype MONDO:0024301 acquired mineral metabolism disease biolink:Disease mondo DOID:0050032 An instance of mineral metabolism disease that is acquired during the lifetime of the individual. DOID:0050032 http://purl.obolibrary.org/obo/MONDO_0024301 acquired mineral metabolism disease|mineral metabolism disease MONDO:0000337 exanthema subitum biolink:Disease mondo COHD:135745|UMLS:C0595993|EFO:1001320|UMLS:C0015231|ICD10:B08.2|NCIT:C128420|MESH:D005077|ICD9:058.1|ICD9:057.8|DOID:0050495|ICD9:058.10|SCTID:54385001|ICD10:B08.20 An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. DOID:0050495|NCIT:C128420|UMLS:C0595993|MESH:D005077|UMLS:C0015231|SNOMEDCT:54385001 http://purl.obolibrary.org/obo/MONDO_0000337 roseola Infantum|pseudorubella|exanthem subitum|sixth disease|roseola MONDO:0024304 ichthyosis vulgaris biolink:Disease mondo NCIT:C84778|GARD:0006752 The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin. NCIT:C84778 http://purl.obolibrary.org/obo/MONDO_0024304 ichthyosis vulgaris|fish scale disease|common ichthyosis MONDO:0002992 obsolete juvenile xanthogranuloma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002992 MONDO:0024303 external hirudiniasis biolink:Disease mondo SCTID:1086871000119109|ICD10:B88.3|UMLS:C0392037 The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate. SNOMEDCT:1086871000119109|UMLS:C0392037 http://purl.obolibrary.org/obo/MONDO_0024303 MONDO:0002993 pancreatic somatostatinoma biolink:Disease mondo DOID:4432|NCIT:C95595|EFO:1001964|UMLS:C1368041 A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. NCIT:C95595|DOID:4432|UMLS:C1368041 http://purl.obolibrary.org/obo/MONDO_0002993 pancreatic somatostatin cell tumor|pancreatic delta cell somatostatin producing neoplasm MONDO:0000336 meningovascular neurosyphilis biolink:Disease mondo DOID:0050491 A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries. DOID:0050491 http://purl.obolibrary.org/obo/MONDO_0000336 MONDO:0002994 pancreatic delta cell neuroendocrine tumor biolink:Disease mondo NCIT:C28396|DOID:4433|UMLS:C1335301 A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning). NCIT:C28396|UMLS:C1335301|DOID:4433 http://purl.obolibrary.org/obo/MONDO_0002994 pancreatic Delta cell neuroendocrine tumor|pancreatic Delta cell neoplasm|pancreatic Delta cell NET|pancreatic Delta cell tumor|pancreatic delta cell neoplasm MONDO:0000335 parenchymatous neurosyphilis biolink:Disease mondo DOID:0050490 A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy. DOID:0050490 http://purl.obolibrary.org/obo/MONDO_0000335 MONDO:0024306 acquired lactic acidosis biolink:Disease mondo EFO:1000036|ICD10:E87.2|DOID:3650|UMLS_CUI:C0001125 An instance of lactic acidosis that is acquired during the lifetime of the individual. DOID:3650 http://purl.obolibrary.org/obo/MONDO_0024306 lactic acidosis|acquired lactic acidosis MONDO:0000334 multinodular goiter biolink:Disease mondo DOID:0050489|SCTID:237570007|NCIT:C131438|UMLS:C0342208|OMIMPS:138800 Nodular goiter characterized by more than one discrete tissue mass. DOID:0050489|UMLS:C0342208|SNOMEDCT:237570007|NCIT:C131438 http://purl.obolibrary.org/obo/MONDO_0000334 goiter, multinodular MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade biolink:Disease mondo NCIT:C96061|UMLS:C3272528|EFO:1001928 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine. NCIT:C96061|UMLS:C3272528 http://purl.obolibrary.org/obo/MONDO_0002995 small intestinal neuroendocrine tumor|small intestinal well differentiated endocrine tumor|small intestinal well differentiated endocrine tumor/carcinoma|carcinoid tumor of small intestine|small intestine neuroendocrine tumor|small intestinal NET MONDO:0024305 acquired hyperprolactinemia biolink:Disease mondo DOID:12700|ICD10:E22.1 An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual. DOID:12700 http://purl.obolibrary.org/obo/MONDO_0024305 Chiari-Frommel syndrome|acquired hyperprolactinemia (disease)|pregnancy-related A-G syndrome|hyperprolactinemia|hyperprolactinaemia MONDO:0012319 major affective disorder 3 biolink:Disease mondo MESH:C566501|UMLS:C1864994|OMIM:609633 http://identifiers.org/omim/609633|MESH:C566501|UMLS:C1864994 http://purl.obolibrary.org/obo/MONDO_0012319 MAJOR affective disorder 3; MAFD3|bipolar affective disorder, early-onset|MAFD3|major affective disorder 3 MONDO:0012317 visceral neuropathy, familial, autosomal dominant biolink:Disease mondo OMIM:609629|UMLS:C1864996 http://identifiers.org/omim/609629|UMLS:C1864996 http://purl.obolibrary.org/obo/MONDO_0012317 enteric neuropathy, familial|pseudoobstruction, idiopathic intestinal|pseudoobstruction, chronic intestinal, neuropathic|visceral neuropathy, familial, autosomal dominant MONDO:0002990 benign deep fibrous histiocytoma biolink:Disease mondo NCIT:C6492|DOID:4419|UMLS:C1266125 A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases. NCIT:C6492|UMLS:C1266125|DOID:4419 http://purl.obolibrary.org/obo/MONDO_0002990 deep benign fibrous histiocytoma|benign deep fibrous histiocytoma MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 biolink:Disease mondo OMIM:609630 http://identifiers.org/omim/609630 http://purl.obolibrary.org/obo/MONDO_0012318 Clls1|leukemia, chronic lymphocytic, susceptibility to, type 1|leukemia, chronic lymphocytic, susceptibility to, 1 predisposition MONDO:0014979 myoclonus, intractable, neonatal biolink:Disease mondo OMIM:617235|UMLS:C4310658 http://identifiers.org/omim/617235|UMLS:C4310658 http://purl.obolibrary.org/obo/MONDO_0014979 myoclonus, intractable, neonatal; NEIMY|NEIMY|myoclonus, intractable, neonatal MONDO:0002991 adenocarcinofibroma biolink:Disease mondo UMLS:C1510778|NCIT:C40035|DOID:4422 A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma. UMLS:C1510778|NCIT:C40035|DOID:4422 http://purl.obolibrary.org/obo/MONDO_0002991 adenocarcinofibroma|adenofibroma, malignant|malignant adenofibroma UBERON:0035546 uveal vein biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035546 ciliary vein UBERON:0035545 deep lymphatic vessel biolink:AnatomicalEntity mondo The tubules that carry lymph throughout the body that are in the interior of the body or limbs. http://purl.obolibrary.org/obo/UBERON_0035545 deep lymph vessel MONDO:0012322 holoprosencephaly 5 biolink:Disease mondo DOID:0110878|MESH:C566464|UMLS:C1864827|OMIM:609637|NCIT:C75460 Holoprosencephaly associated with mutations in the ZIC2 gene. NCIT:C75460|DOID:0110878|UMLS:C1864827|http://identifiers.org/omim/609637|MESH:C566464 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly type 5|HPE5|holoprosencephaly caused by mutation in ZIC2|holoprosencephaly 5|holoprosencephaly 5; HPE5|ZIC2 holoprosencephaly MONDO:0014985 Fanconi anemia complementation group V biolink:Disease mondo DOID:0111080|OMIM:617243|UMLS:C4310652 Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. http://identifiers.org/omim/617243|UMLS:C4310652|DOID:0111080 http://purl.obolibrary.org/obo/MONDO_0014985 Fanconi anemia caused by mutation in MAD2L2|Fanconi Anemia, complementation Group 5|MAD2L2 Fanconi anemia|FANCV|Fanconi anemia, complementation GROUP V; FANCV|Fanconi anemia complementation group type V|Fanconi Anemia, complementation group V|Fanconi Anemia, complementation group type V MONDO:0012323 lethal acantholytic epidermolysis bullosa biolink:Disease mondo ICD10:Q81.0|MESH:C535493|GARD:0009910|Orphanet:158687|OMIM:609638|UMLS:C1864826 Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters. MESH:C535493|ORPHA:158687|UMLS:C1864826|http://identifiers.org/omim/609638 http://purl.obolibrary.org/obo/MONDO_0012323 LAEB|epidermolysis bullosa, lethal acantholytic|EBLA|epidermolysis bullosa, lethal acantholytic; EBLA|lethal acantholytic epidermolysis bullosa ordo_disease|gard_rare MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; biolink:Disease mondo OMIM:617241|UMLS:C4310653 http://identifiers.org/omim/617241|UMLS:C4310653 http://purl.obolibrary.org/obo/MONDO_0014984 LICS|lung disease, immunodeficiency, and chromosome breakage syndrome; LICS|lung disease, immunodeficiency, and chromosome breakage syndrome MONDO:0012320 migraine, familial hemiplegic, 3 biolink:Disease mondo OMIM:609634|GARD:0010974|MESH:C566500|UMLS:C1864987 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene. UMLS:C1864987|http://identifiers.org/omim/609634|MESH:C566500 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, type 3|SCN1A familial or sporadic hemiplegic migraine|FHM3|familial or sporadic hemiplegic migraine caused by mutation in SCN1A|migraine, familial hemiplegic, 3|migraine, familial hemiplegic, 3; FHM3 MONDO:0014983 congenital myasthenic syndrome 21 biolink:Disease mondo OMIM:617239|DOID:0110672|UMLS:C4310654 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene. http://identifiers.org/omim/617239|DOID:0110672|UMLS:C4310654 http://purl.obolibrary.org/obo/MONDO_0014983 myasthenic syndrome, congenital, 21, presynaptic; CMS21|myasthenic syndrome, congenital, 21, presynaptic|congenital myasthenic syndrome 21, presynaptic|congenital myasthenic syndrome caused by mutation in SLC18A3|SLC18A3 congenital myasthenic syndrome|CMS21|congenital myasthenic syndrome type 21 UBERON:0035539 esophageal artery biolink:AnatomicalEntity mondo Any of several arteries that arise from the aorta and supply blood to the esophagus. http://purl.obolibrary.org/obo/UBERON_0035539 aortic esophageal artery|oesophageal artery MONDO:0012321 Alzheimer disease 10 biolink:Disease mondo MESH:C566465|ICD10:G30|OMIM:609636|DOID:0110043|UMLS:C1864828 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. DOID:0110043|UMLS:C1864828|http://identifiers.org/omim/609636|MESH:C566465 http://purl.obolibrary.org/obo/MONDO_0012321 Ad10|Alzheimer disease, familial, 10|Alzheimer disease 10|Alzheimer's disease 10|AD10|Alzheimer's disease type 10|Alzheimer disease type 10|Alzheimer disease familial 10 MONDO:0014982 myopia 25, autosomal dominant biolink:Disease mondo OMIM:617238|UMLS:C4310655 Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene. http://identifiers.org/omim/617238|UMLS:C4310655 http://purl.obolibrary.org/obo/MONDO_0014982 myopia (disease) caused by mutation in P4HA2|P4HA2 myopia (disease)|myopia 25, autosomal dominant|MYP25|myopia 25, autosomal dominant; MYP25 MONDO:0012326 autosomal recessive nonsyndromic deafness 42 biolink:Disease mondo OMIM:609646|DOID:0110500|MESH:C566460|UMLS:C1864818|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene. MESH:C566460|DOID:0110500|UMLS:C1864818|http://identifiers.org/omim/609646 http://purl.obolibrary.org/obo/MONDO_0012326 autosomal recessive nonsyndromic deafness type 42|ILDR1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 42|deafness, autosomal recessive 42|autosomal recessive nonsyndromic deafness caused by mutation in ILDR1|deafness, autosomal recessive 42; DFNB42|DFNB42|autosomal recessive deafness 42 MONDO:0014989 uncombable hair syndrome 2 biolink:Disease mondo UMLS:C4310649|OMIM:617251 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene. http://identifiers.org/omim/617251|UMLS:C4310649 http://purl.obolibrary.org/obo/MONDO_0014989 UHS2|uncombable hair syndrome caused by mutation in TGM3|uncombable hair syndrome 2|uncombable hair syndrome 2; UHS2|TGM3 uncombable hair syndrome|uncombable hair syndrome type 2|UHS2 MONDO:0012327 autosomal recessive nonsyndromic deafness 46 biolink:Disease mondo ICD10:H90.3|OMIM:609647|DOID:0110503|MESH:C566459|UMLS:C1864815 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31. MESH:C566459|DOID:0110503|UMLS:C1864815|http://identifiers.org/omim/609647 http://purl.obolibrary.org/obo/MONDO_0012327 deafness, autosomal recessive 46; DFNB46|DFNB46|autosomal recessive nonsyndromic deafness type 46|deafness, autosomal recessive 46|autosomal recessive deafness 46 MONDO:0014988 obsolete 3-methylglutaconic aciduria, type VIII biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0014988 MONDO:0014987 Fanconi anemia complementation group U biolink:Disease mondo DOID:0111085|OMIM:617247|UMLS:C4310651 Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. http://identifiers.org/omim/617247|UMLS:C4310651|DOID:0111085 http://purl.obolibrary.org/obo/MONDO_0014987 Fanconi Anemia, complementation group U|Fanconi Anemia, complementation group type U|Fanconi anemia complementation group type U|XRCC2 Fanconi anemia|FANCU|Fanconi anemia caused by mutation in XRCC2|Fanconi anemia, complementation GROUP U; FANCU MONDO:0012324 14q22q23 microdeletion syndrome biolink:Disease mondo OMIM:609640|UMLS:C1864825|MESH:C535639|ICD10:Q93.5|GARD:0002384|Orphanet:264200 14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. MESH:C535639|ORPHA:264200|UMLS:C1864825|http://identifiers.org/omim/609640 http://purl.obolibrary.org/obo/MONDO_0012324 monosomy 14q22-q23|chromosome 14Q22 deletion syndrome|14q22-q23 microdeletion syndrome|Growth deficiency, Facial anomalies, and brachydactyly|monosomy 14q22q23|Del(14)(q22q23)|Frias syndrome ordo_malformation_syndrome MONDO:0012325 Nguyen syndrome biolink:Disease mondo MESH:C536115|GARD:0009754|OMIM:609643|UMLS:C1864823 MESH:C536115|UMLS:C1864823|http://identifiers.org/omim/609643 http://purl.obolibrary.org/obo/MONDO_0012325 Nguyen syndrome|MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia|MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia gard_rare MONDO:0014986 Fanconi anemia complementation group r biolink:Disease mondo UMLS:C4284093|DOID:0111090|OMIM:617244 Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. http://identifiers.org/omim/617244|UMLS:C4284093|DOID:0111090 http://purl.obolibrary.org/obo/MONDO_0014986 Fanconi anemia complementation group type R|RAD51 Fanconi anemia|Fanconi Anemia, complementation group R|Fanconi anemia caused by mutation in RAD51|Fanconi Anemia, complementation group type R|FANCR|Fanconi anemia, complementation GROUP R; FANCR HP:0011799 Abnormality of facial soft tissue biolink:PhenotypicFeature mondo UMLS:C4023183 http://purl.obolibrary.org/obo/HP_0011799 Malformation of facial soft tissue|Deformity of facial soft tissue|Abnormality of facial soft tissue|Anomaly of facial soft tissue MONDO:0000329 obsolete epidemic typhus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000329 MONDO:0000328 hyperphosphatemia (disease) biolink:Disease mondo MESH:D054559|HP:0002905|DOID:0050459|SCTID:20165001|UMLS:C0085681 Abnormally high level of phosphate in the blood. UMLS:C0085681|DOID:0050459|MESH:D054559|SNOMEDCT:20165001|NCIT:C113750 http://purl.obolibrary.org/obo/MONDO_0000328 hyperphosphatemia MONDO:0000327 Buruli ulcer disease biolink:Disease mondo DOID:0050456|ICD10:A31.1|SCTID:15845006|MESH:D054312|EFO:1001281|UMLS:C0085568|NCIT:C84604 A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers. UMLS:C0085568|MESH:D054312|DOID:0050456|SNOMEDCT:15845006|NCIT:C84604 http://purl.obolibrary.org/obo/MONDO_0000327 Mycobacterium ulcerans infectious disease|Mycobacterium ulcerans caused disease or disorder|Searl ulcer|Searle's ulcer|Mossman ulcer|Mycobacterium ulcerans disease or disorder|Buruli ulcer|Bairnsdale ulcer|Daintree ulcer MONDO:0014981 immunodeficiency 49 biolink:Disease mondo OMIM:617237|UMLS:C4310656 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene. http://identifiers.org/omim/617237|UMLS:C4310656 http://purl.obolibrary.org/obo/MONDO_0014981 immunodeficiency 49; IMD49|BCL11B primary immunodeficiency disease|immunodeficiency type 49|SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|IMD49|severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|immunodeficiency 49|primary immunodeficiency disease caused by mutation in BCL11B MONDO:0002989 benign fibrous histiocytoma biolink:Disease mondo ICDO:8830/0|DOID:4415|UMLS:C0206644|MESH:D018219|NCIT:C3739 A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage. DOID:4415|UMLS:C0206644|MESH:D018219|NCIT:C3739 http://purl.obolibrary.org/obo/MONDO_0002989 fibrous histiocytoma NOS (morphologic abnormality)|histiocytoma, fibrous, benign|fibroxanthoma|benign fibrous histiocytoma|benign fibrous histiocytoma (morphologic abnormality)|fibroxanthoma NOS (morphologic abnormality)|fibrous histiocytoma MONDO:0014980 cone-rod dystrophy and hearing loss biolink:Disease mondo OMIMPS:617236|UMLS:C4310657|EFO:0009151 UMLS:C4310657 http://purl.obolibrary.org/obo/MONDO_0014980 CRDHL|cone-rod dystrophy and hearing loss|cone-rod dystrophy and hearing loss; CRDHL MONDO:0000344 Ross river fever biolink:Disease mondo SCTID:602001|DOID:0050518|UMLS:C0035865 A disease caused by infection with Ross River virus. UMLS:C0035865|SNOMEDCT:602001|DOID:0050518 http://purl.obolibrary.org/obo/MONDO_0000344 Ross River virus caused disease or disorder|Ross River virus disease|Ross River virus disease or disorder|Ross River virus infectious disease MONDO:0000343 Barmah forest virus disease biolink:Disease mondo DOID:0050517 A disease caused by infection with Barmah Forest virus. DOID:0050517 http://purl.obolibrary.org/obo/MONDO_0000343 Barmah Forest virus infectious disease|Barmah Forest virus caused disease or disorder|Barmah Forest virus disease or disorder MONDO:0000342 O'nyong'nyong fever biolink:Disease mondo MEDGEN:547234|SCTID:85579005|ICD10:A92.1|DOID:0050516|UMLS:C0276286 An disease or disorder caused by infection with O'nyong-nyong virus. SNOMEDCT:85579005|DOID:0050516|UMLS:C0276286 http://purl.obolibrary.org/obo/MONDO_0000342 O'nyong-nyong virus disease or disorder|O'nyong-nyong virus infectious disease|O'nyong-nyong virus caused disease or disorder MONDO:0000341 paralytic poliomyelitis biolink:Disease mondo DOID:0050515 A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. DOID:0050515 http://purl.obolibrary.org/obo/MONDO_0000341 MONDO:0000348 obsolete posterior polar cataract (disease) biolink:Disease mondo DOID:0050537 DOID:0050537 http://purl.obolibrary.org/obo/MONDO_0000348 cataract, posterior polar MONDO:0000347 obsolete adult T-cell leukemia/lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000347 MONDO:0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type biolink:Disease mondo DOID:0050522 DOID:0050522 http://purl.obolibrary.org/obo/MONDO_0000346 Balkan hemorrhagic fever MONDO:0000345 Oropouche fever biolink:Disease mondo DOID:0050521|MEDGEN:547314|SCTID:72880002|UMLS:C0276386 A disease caused by infection with Oropouche virus. DOID:0050521|UMLS:C0276386|SNOMEDCT:72880002 http://purl.obolibrary.org/obo/MONDO_0000345 Oropouche virus disease or disorder|Oropouche virus infectious disease|Oropouche virus caused disease or disorder MONDO:0012308 Joubert syndrome with renal defect biolink:Disease mondo ICD10:Q61.5|Orphanet:220497|SCTID:716999001|GARD:0010169|DOID:0110999|OMIM:609583|ICD10:Q04.3|NCIT:C74997|MESH:C536296 Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. http://identifiers.org/omim/609583|MESH:C536296|NCIT:C74997|DOID:0110999|SNOMEDCT:716999001|ORPHA:220497 http://purl.obolibrary.org/obo/MONDO_0012308 Joubert syndrome 4|JBTS4|Joubert syndrome 4; JBTS4|JS-R|Joubert syndrome with renal anomalies|Joubert syndrome type 4 gard_rare|ordo_disease UBERON:0035551 deep vasculature biolink:AnatomicalEntity mondo The part of the circulatory system that lies deep beneath the subcutaneous tissue layers away from the surface of the skin. http://purl.obolibrary.org/obo/UBERON_0035551 deep part of circulatory system MONDO:0012309 parietal foramina 2 biolink:Disease mondo OMIM:609597|MESH:C566510|UMLS:C1865044 Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene. http://identifiers.org/omim/609597|MESH:C566510|UMLS:C1865044 http://purl.obolibrary.org/obo/MONDO_0012309 parietal foramina type 2|parietal foramina caused by mutation in ALX4|PFM2|ALX4 parietal foramina|parietal foramina 2; PFM2|parietal foramina 2 UBERON:0035550 superficial vein biolink:AnatomicalEntity mondo Any of the veins carrying deoxygenated blood from the subcutaneous tissue layers. http://purl.obolibrary.org/obo/UBERON_0035550 superficial veins|superficial vessels|superfical vein MONDO:0014969 isolated sedoheptulokinase deficiency biolink:Disease mondo UMLS:C1291373|OMIM:617213|SCTID:124309005|ICD9:277.6|Orphanet:440713 SNOMEDCT:124309005|ORPHA:440713|http://identifiers.org/omim/617213|UMLS:C1291373 http://purl.obolibrary.org/obo/MONDO_0014969 sedoheptulokinase deficiency; SHPKD|SHPKD|sedoheptulokinase deficiency|isolated SHPK deficiency ordo_disease MONDO:0012306 cardiomyopathy, familial restrictive, 2 biolink:Disease mondo UMLS:C1865071|MESH:C566512|OMIM:609578 http://identifiers.org/omim/609578|MESH:C566512|UMLS:C1865071 http://purl.obolibrary.org/obo/MONDO_0012306 cardiomyopathy, familial restrictive, 2; RCM2|RCM2|cardiomyopathy, familial restrictive, 2 UBERON:0035553 left cardiac chamber biolink:AnatomicalEntity mondo Any chamber of the left side of the heart http://purl.obolibrary.org/obo/UBERON_0035553 MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy biolink:Disease mondo OMIM:617207|UMLS:C4310667 UMLS:C4310667|http://identifiers.org/omim/617207 http://purl.obolibrary.org/obo/MONDO_0014968 encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO|encephalopathy, progressive, with amyotrophy and optic atrophy|PEAMO MONDO:0012307 familial scaphocephaly syndrome, McGillivray type biolink:Disease mondo Orphanet:168624|ICD10:Q87.0|MESH:C566511|OMIM:609579|UMLS:C1865070 Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. http://identifiers.org/omim/609579|MESH:C566511|UMLS:C1865070|ORPHA:168624 http://purl.obolibrary.org/obo/MONDO_0012307 scaphocephaly, maxillary retrusion, and intellectual disability|scaphocephaly, maxillary retrusion, and mental retardation|scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome ordo_malformation_syndrome UBERON:0035552 deep vein biolink:AnatomicalEntity mondo A blood vessel carrying deoxygenated blood far beneath the skin usually accompanying an artery. http://purl.obolibrary.org/obo/UBERON_0035552 deep veins|deep vessels MONDO:0000340 bulbospinal polio biolink:Disease mondo DOID:0050514 A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract. DOID:0050514 http://purl.obolibrary.org/obo/MONDO_0000340 PATO-PROPERTY:different_in_magnitude_relative_to different_in_magnitude_relative_to biolink:OntologyClass mondo q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to UBERON:0035554 right cardiac chamber biolink:AnatomicalEntity mondo Any chamber of the right side of the heart http://purl.obolibrary.org/obo/UBERON_0035554 MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness biolink:Disease mondo OMIM:609616|MESH:C566507|UMLS:C1865022 MESH:C566507|UMLS:C1865022|http://identifiers.org/omim/609616 http://purl.obolibrary.org/obo/MONDO_0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness MONDO:0014974 sudden cardiac failure, alcohol-induced biolink:Disease mondo OMIM:617223|UMLS:C4310663 http://identifiers.org/omim/617223|UMLS:C4310663 http://purl.obolibrary.org/obo/MONDO_0014974 sudden Cardiac failure, alcohol-induced|SCFAI|sudden cardiac failure, alcohol-induced; SCFAI UBERON:0035548 colic artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035548 MONDO:0012312 short QT syndrome type 1 biolink:Disease mondo OMIM:609620|UMLS:C1865020|MESH:C566506 Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene. MESH:C566506|UMLS:C1865020|http://identifiers.org/omim/609620 http://purl.obolibrary.org/obo/MONDO_0012312 short QT syndrome 1; SQT1|SQT1|short QT syndrome type 1|KCNH2 short QT syndrome|short QT syndrome 1|SQTS|short QT syndrome caused by mutation in KCNH2 MONDO:0014973 sudden cardiac failure, infantile biolink:Disease mondo OMIM:617222|UMLS:C4310664 http://identifiers.org/omim/617222|UMLS:C4310664 http://purl.obolibrary.org/obo/MONDO_0014973 sudden Cardiac failure, infantile|SCFI|SCFI|sudden cardiac failure, infantile; SCFI MONDO:0014972 chromosome 19q13.11 deletion syndrome, proximal biolink:Disease mondo OMIM:617219|UMLS:C4311046 http://identifiers.org/omim/617219|UMLS:C4311046 http://purl.obolibrary.org/obo/MONDO_0014972 MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 biolink:Disease mondo OMIM:617217|UMLS:C4310665 http://identifiers.org/omim/617217|UMLS:C4310665 http://purl.obolibrary.org/obo/MONDO_0014971 AI2A6|amelogenesis imperfecta, hypomaturation type, IIa6|amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6 UBERON:0035549 vasculature of integument biolink:AnatomicalEntity mondo The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. http://purl.obolibrary.org/obo/UBERON_0035549 vasculature of skin|superficial vasculature|dermis vasculature|hypodermis vasculature|skin vasculature|superficial part of circulatory system|subcutaneous vasculature MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence biolink:Disease mondo OMIM:609612|UMLS:C1865040 UMLS:C1865040|http://identifiers.org/omim/609612 http://purl.obolibrary.org/obo/MONDO_0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence|congenital fibrosis syndrome with synergistic divergence|external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation|external ophthalmoplegia with synergistic divergence MONDO:0012315 distal 10q deletion syndrome biolink:Disease mondo MESH:C567182|UMLS:C4305277|ICD10:Q93.5|SCTID:718687003|UMLS:C2674937|OMIM:609625|Orphanet:96148|DOID:0060390|GARD:0003711 Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. ORPHA:96148|UMLS:C2674937|DOID:0060390|SNOMEDCT:718687003|MESH:C567182|http://identifiers.org/omim/609625|UMLS:C4305277 http://purl.obolibrary.org/obo/MONDO_0012315 telomeric deletion 10q|distal monosomy 10q|terminal chromosome 10Q26 deletion syndrome|10q monosomy|distal deletion 10q|chromosome 10q deletion|terminal chromosome 10q26 deletion syndrome|deletion 10q|monosomy 10qter|chromosome 10q26 deletion syndrome|distal monosomy type 10q|monosomy 10q|partial monosomy 10q|10q deletion ordo_malformation_syndrome MONDO:0014978 preimplantation embryonic lethality 2 biolink:Disease mondo UMLS:C4310659|OMIM:617234 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene. http://identifiers.org/omim/617234|UMLS:C4310659 http://purl.obolibrary.org/obo/MONDO_0014978 preimplantation embryonic lethality type 2|PREMBL2|PADI6 preimplantation embryonic lethality|preimplantation embryonic lethality caused by mutation in PADI6|preimplantation embryonic lethality 2|preimplantation embryonic lethality 2; PREMBL2 MONDO:0012316 Majeed syndrome biolink:Disease mondo OMIM:609628|Orphanet:77297|SCTID:703540008|NCIT:C119058|GARD:0010088|ICD9:759.89|MedDRA:10072223|MESH:C537839|UMLS:C1864997 Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis. SNOMEDCT:703540008|MESH:C537839|ORPHA:77297|MEDDRA:10072223|NCIT:C119058|UMLS:C1864997|http://identifiers.org/omim/609628 http://purl.obolibrary.org/obo/MONDO_0012316 chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis|Majeed syndrome|congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|MAJEED syndrome; MJDS|dyserythropoietic anemia, and neutrophilic dermatosis|MJDS|chronic recurrent multifocal osteomyelitis, congenital|chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome|CDA and CRMO gard_rare|ordo_disease MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2Z biolink:Disease mondo Orphanet:480682|UMLS:C4310660|NCIT:C142082|OMIM:617232|UMLS:CN776834 An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. ORPHA:480682|http://identifiers.org/omim/617232|NCIT:C142082|UMLS:CN776834|UMLS:C4310660 http://purl.obolibrary.org/obo/MONDO_0014977 autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1|LGMD2Z|muscular dystrophy, limb-girdle, type 2Z|POGLUT1 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2Z ordo_disease MONDO:0012313 short QT syndrome type 2 biolink:Disease mondo UMLS:C1865019|OMIM:609621|MESH:C566505 Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. MESH:C566505|UMLS:C1865019|http://identifiers.org/omim/609621 http://purl.obolibrary.org/obo/MONDO_0012313 short QT syndrome 2; SQT2|KCNQ1 short QT syndrome|SQT2|short QT syndrome type 2|short QT syndrome caused by mutation in KCNQ1|short QT syndrome 2 MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome biolink:Disease mondo UMLS:C4310661|Orphanet:478049|OMIM:617228 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. http://identifiers.org/omim/617228|ORPHA:478049|UMLS:C4310661 http://purl.obolibrary.org/obo/MONDO_0014976 combined oxidative phosphorylation deficiency caused by mutation in MIPEP|combined oxidative phosphorylation deficiency type 31|COXPD31|combined oxidative phosphorylation deficiency 31; COXPD31|combined oxidative phosphorylation deficiency 31|MIPEP combined oxidative phosphorylation deficiency ordo_disease MONDO:0014975 autosomal recessive spastic paraplegia type 78 biolink:Disease mondo UMLS:C4310662|Orphanet:513436|OMIM:617225 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene. ORPHA:513436|http://identifiers.org/omim/617225|UMLS:C4310662 http://purl.obolibrary.org/obo/MONDO_0014975 ATP13A2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in ATP13A2|spastic paraplegia 78, autosomal recessive; SPG78|spastic paraplegia 78, autosomal recessive|SPG78 ordo_disease MONDO:0012314 short QT syndrome type 3 biolink:Disease mondo UMLS:C1865018|OMIM:609622|MESH:C566504 Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene. MESH:C566504|UMLS:C1865018|http://identifiers.org/omim/609622 http://purl.obolibrary.org/obo/MONDO_0012314 short QT syndrome caused by mutation in KCNJ2|SQT3|short QT syndrome 3; SQT3|short QT syndrome type 3|short QT syndrome 3|KCNJ2 short QT syndrome MONDO:0000339 spinal polio biolink:Disease mondo DOID:0050513 A paralytic poliomyelitis in which the site of paralysis is the spinal cord. DOID:0050513 http://purl.obolibrary.org/obo/MONDO_0000339 MONDO:0000338 variola major infectious disease biolink:Disease mondo COHD:134563|SCTID:47452006|ICD9:050.0|DOID:0050508|UMLS:C1812609 DOID:0050508|UMLS:C1812609|SNOMEDCT:47452006 http://purl.obolibrary.org/obo/MONDO_0000338 variola major MONDO:0014970 spermatogenic failure 17 biolink:Disease mondo OMIM:617214|DOID:0070174|UMLS:C4310666 Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene. http://identifiers.org/omim/617214|DOID:0070174|UMLS:C4310666 http://purl.obolibrary.org/obo/MONDO_0014970 SPGF17|spermatogenic failure 17|spermatogenic failure type 17|PLCZ1 azoospermia|Male infertility due to oocyte Activation failure|azoospermia caused by mutation in PLCZ1|spermatogenic failure 17; SPGF17 GO:0099531 presynaptic process involved in chemical synaptic transmission biolink:OntologyClass mondo The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission. http://purl.obolibrary.org/obo/GO_0099531 GO:1903353 regulation of nucleus organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of nucleus organization. http://purl.obolibrary.org/obo/GO_1903353 regulation of nuclear organization|regulation of nuclear organisation|regulation of nuclear organization and biogenesis|regulation of nuclear morphology|regulation of nucleus organization and biogenesis GO:0051590 positive regulation of neurotransmitter transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051590 up regulation of neurotransmitter transport|stimulation of neurotransmitter transport|up-regulation of neurotransmitter transport|activation of neurotransmitter transport|upregulation of neurotransmitter transport GO:0099537 trans-synaptic signaling biolink:OntologyClass mondo Cell-cell signaling in either direction across the synaptic cleft. http://purl.obolibrary.org/obo/GO_0099537 GO:0099536 synaptic signaling biolink:OntologyClass mondo Cell-cell signaling to, from or within a synapse. http://purl.obolibrary.org/obo/GO_0099536 MONDO:0002900 cerebral neuroblastoma biolink:Disease mondo SCTID:281560004|NCIT:C4826|DOID:4164|UMLS:C0559458 A neuroblastoma arising from the cerebral hemispheres. UMLS:C0559458|NCIT:C4826|SNOMEDCT:281560004|DOID:4164 http://purl.obolibrary.org/obo/MONDO_0002900 neuroblastoma of cerebral hemispheres|neuroblastoma of the cerebral hemispheres|neuroblastoma of the cerebrum|neuroblastoma of the cerebral hemisphere|neuroblastoma of brain|neuroblastoma of telencephalon|cerebral neuroblastoma, PNET|cerebral neuroblastoma|neuroblastoma of cerebrum|telencephalon neuroblastoma|cerebral hemispheric neuroblastoma|central nervous system neuroblastoma NCBITaxon:61172 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_61172 HGNC:6404 KPTN biolink:OntologyClass mondo http://identifiers.org/hgnc/6404 HGNC:6407 KRAS biolink:OntologyClass mondo http://identifiers.org/hgnc/6407 GO:0002637 regulation of immunoglobulin production biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of immunoglobulin production. http://purl.obolibrary.org/obo/GO_0002637 regulation of antibody production|regulation of immunoglobulin secretion|regulation of immunoglobulin biosynthetic process CHEBI:51570 biotins biolink:ChemicalSubstance mondo Compounds containing a biotin (5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid) skeleton. http://purl.obolibrary.org/obo/CHEBI_51570 GO:0002638 negative regulation of immunoglobulin production biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of immunoglobulin production. http://purl.obolibrary.org/obo/GO_0002638 negative regulation of immunoglobulin secretion|down-regulation of immunoglobulin production|down regulation of immunoglobulin production|inhibition of immunoglobulin production|downregulation of immunoglobulin production|negative regulation of immunoglobulin biosynthetic process GO:0002639 positive regulation of immunoglobulin production biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of immunoglobulin production. http://purl.obolibrary.org/obo/GO_0002639 stimulation of immunoglobulin production|upregulation of immunoglobulin production|positive regulation of immunoglobulin secretion|positive regulation of immunoglobulin biosynthetic process|up-regulation of immunoglobulin production|up regulation of immunoglobulin production|activation of immunoglobulin production GO:0099547 regulation of translation at synapse, modulating synaptic transmission biolink:OntologyClass mondo Any process that modulates synaptic transmission by regulating translation occurring at the synapse. http://purl.obolibrary.org/obo/GO_0099547 GO:0099512 supramolecular fiber biolink:OntologyClass mondo A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. http://purl.obolibrary.org/obo/GO_0099512 fibril HGNC:6408 MAFB biolink:OntologyClass mondo http://identifiers.org/hgnc/6408 HGNC:6412 KRT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6412 HGNC:6413 KRT10 biolink:OntologyClass mondo http://identifiers.org/hgnc/6413 HGNC:6414 KRT12 biolink:OntologyClass mondo http://identifiers.org/hgnc/6414 HGNC:6415 KRT13 biolink:OntologyClass mondo http://identifiers.org/hgnc/6415 HGNC:6416 KRT14 biolink:OntologyClass mondo http://identifiers.org/hgnc/6416 GO:0099522 region of cytosol biolink:OntologyClass mondo Any (proper) part of the cytosol of a single cell of sufficient size to still be considered cytosol. http://purl.obolibrary.org/obo/GO_0099522 GO:0099523 presynaptic cytosol biolink:OntologyClass mondo The region of the cytosol consisting of all cytosol that is part of the presynapse. http://purl.obolibrary.org/obo/GO_0099523 GO:1903379 regulation of mitotic chromosome condensation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of mitotic chromosome condensation. http://purl.obolibrary.org/obo/GO_1903379 HGNC:6423 KRT16 biolink:OntologyClass mondo http://identifiers.org/hgnc/6423 UBERON:0035505 right inguinal part of abdomen biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035505 right iliac fossa viewed surgically|right iliac region|right inguinal region UBERON:0035508 branch of posterior cerebral artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035508 posterior cerebral arterial branch HGNC:6427 KRT17 biolink:OntologyClass mondo http://identifiers.org/hgnc/6427 GO:1903380 positive regulation of mitotic chromosome condensation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation. http://purl.obolibrary.org/obo/GO_1903380 up-regulation of mitotic chromosome condensation|up regulation of mitotic chromosome condensation|activation of mitotic chromosome condensation|upregulation of mitotic chromosome condensation NCBITaxon:4892 Saccharomycetales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4892 budding yeasts|Endomycetales NCBITaxon:4893 Saccharomycetaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4893 NCBITaxon:4890 Ascomycota organism taxon mondo GC_ID:1|PMID:17572334 http://purl.obolibrary.org/obo/NCBITaxon_4890 ascomycetes|sac fungi|ascomycetes NCBITaxon:4891 Saccharomycetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4891 Hemiascomycetes GO:0099529 neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential biolink:OntologyClass mondo Neurotransmitter receptor activity occurring in the postsynaptic membrane that is involved in regulating postsynaptic membrane potential, either directly (ionotropic receptors) or indirectly (e.g. via GPCR activation of an ion channel). http://purl.obolibrary.org/obo/GO_0099529 GO:0099524 postsynaptic cytosol biolink:OntologyClass mondo The region of the cytosol consisting of all cytosol that is part of the postsynapse. http://purl.obolibrary.org/obo/GO_0099524 MONDO:0002930 kidney sarcoma biolink:Disease mondo UMLS:C0346251|ICD9:189.0|SCTID:254918001|NCIT:C4525|DOID:4242 A sarcoma involving a kidney. NCIT:C4525|UMLS:C0346251|DOID:4242|SNOMEDCT:254918001 http://purl.obolibrary.org/obo/MONDO_0002930 renal sarcoma|sarcoma of kidney|sarcoma of the kidney|kidney sarcoma GO:0099577 regulation of translation at presynapse, modulating synaptic transmission biolink:OntologyClass mondo Any process that modulates synaptic transmission by regulating translation occurring at the presynapse. http://purl.obolibrary.org/obo/GO_0099577 GO:0099578 regulation of translation at postsynapse, modulating synaptic transmission biolink:OntologyClass mondo Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse. http://purl.obolibrary.org/obo/GO_0099578 MONDO:0002931 conjunctivochalasis biolink:Disease mondo DOID:4250|ICD10:H11.82|UMLS:C0878693|SCTID:408663001|ICD9:372.81|COHD:375817 DOID:4250|SNOMEDCT:408663001|UMLS:C0878693 http://purl.obolibrary.org/obo/MONDO_0002931 MONDO:0002932 obsolete conjunctival disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002932 MONDO:0002933 osteosclerosis biolink:Disease mondo NCIT:C41236|MESH:D010026|ICD10:Q78.2|UMLS:C0029464|SCTID:49347007|DOID:4254 Abnormally high bone density. NCIT:C41236|UMLS:C0029464|DOID:4254|MESH:D010026|SNOMEDCT:49347007 http://purl.obolibrary.org/obo/MONDO_0002933 HP:0011730 Abnormal central sensory function biolink:PhenotypicFeature mondo UMLS:C4023215 An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. http://purl.obolibrary.org/obo/HP_0011730 Abnormality of central sensory function MONDO:0014916 developmental and epileptic encephalopathy, 41 biolink:Disease mondo OMIM:617105|UMLS:C4310717 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene. UMLS:C4310717|http://identifiers.org/omim/617105 http://purl.obolibrary.org/obo/MONDO_0014916 epileptic encephalopathy, early infantile, type 41|SLC1A2 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in SLC1A2|EIEE41|epileptic encephalopathy, early infantile, 41|epileptic encephalopathy, early infantile, 41; EIEE41|DEE41 HGNC:25088 SGO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25088 MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly biolink:Disease mondo OMIM:617102|UMLS:C4310718 UMLS:C4310718|http://identifiers.org/omim/617102 http://purl.obolibrary.org/obo/MONDO_0014915 short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16|short-rib thoracic dysplasia 16 with or without polydactyly|SRTD16 MONDO:0014914 Dias-Logan syndrome biolink:Disease mondo OMIM:617101|UMLS:C4310833 UMLS:C4310833|http://identifiers.org/omim/617101 http://purl.obolibrary.org/obo/MONDO_0014914 Dias-Logan syndrome; DILOS|Dias-Logan syndrome|DILOS|BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin|intellectual developmental disorder with hereditary persistence of fetal Hemoglobin|intellectual developmental disorder with persistence of fetal Hemoglobin|intellectual developmental disorder with persistence of fetal HEMOGLOBIN MONDO:0014913 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0014913 MONDO:0014919 sessile serrated polyposis cancer syndrome biolink:Disease mondo UMLS:C4310714|OMIM:617108 http://identifiers.org/omim/617108|UMLS:C4310714 http://purl.obolibrary.org/obo/MONDO_0014919 sessile serrated polyposis cancer syndrome; SSPCS|sessile serrated polyposis cancer syndrome|SSPCS MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome biolink:Disease mondo UMLS:C4310715|Orphanet:500095|OMIM:617107 http://identifiers.org/omim/617107|UMLS:C4310715|ORPHA:500095 http://purl.obolibrary.org/obo/MONDO_0014918 THAUVIN-robinet-Faivre syndrome; TROFAS|Thauvin-robinet-Faivre syndrome|TROFAS ordo_malformation_syndrome MONDO:0014917 developmental and epileptic encephalopathy, 42 biolink:Disease mondo OMIM:617106|UMLS:C4310716 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene. http://identifiers.org/omim/617106|UMLS:C4310716 http://purl.obolibrary.org/obo/MONDO_0014917 epileptic encephalopathy, early infantile, type 42|CACNA1A early infantile epileptic encephalopathy|EIEE42|DEE42|early infantile epileptic encephalopathy caused by mutation in CACNA1A|epileptic encephalopathy, early infantile, 42; EIEE42|epileptic encephalopathy, early infantile, 42 MONDO:0014923 peeling skin syndrome 5 biolink:Disease mondo UMLS:C4310710|OMIM:617115 Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene. UMLS:C4310710|http://identifiers.org/omim/617115 http://purl.obolibrary.org/obo/MONDO_0014923 peeling skin syndrome caused by mutation in SERPINB8|peeling skin syndrome type 5|peeling skin syndrome 5; PSS5|PSS5|SERPINB8 peeling skin syndrome|peeling skin syndrome 5|PSS5 MONDO:0014922 myofibrillar myopathy 7 biolink:Disease mondo UMLS:C4310711|DOID:0080098|OMIM:617114 Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene. UMLS:C4310711|DOID:0080098|http://identifiers.org/omim/617114 http://purl.obolibrary.org/obo/MONDO_0014922 MFM7|myofibrillar myopathy (disease) caused by mutation in KY|myopathy, myofibrillar, type 7|KY myofibrillar myopathy (disease)|alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy|myopathy, myofibrillar, 7; MFM7|myopathy, myofibrillar, 7 MONDO:0014921 developmental and epileptic encephalopathy, 43 biolink:Disease mondo UMLS:C4310712|OMIM:617113 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene. UMLS:C4310712|http://identifiers.org/omim/617113 http://purl.obolibrary.org/obo/MONDO_0014921 epileptic encephalopathy, early infantile, 43; EIEE43|EIEE43|early infantile epileptic encephalopathy caused by mutation in GABRB3|epileptic encephalopathy, early infantile, 43|GABRB3 early infantile epileptic encephalopathy|DEE43|epileptic encephalopathy, early infantile, type 43 HGNC:6439 KRT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6439 MONDO:0014920 patterned macular dystrophy 3 biolink:Disease mondo UMLS:C4310713|OMIM:617111|Orphanet:466718|DOID:0060865|ICD10:H35.5 Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene. UMLS:C4310713|ORPHA:466718|http://identifiers.org/omim/617111|DOID:0060865 http://purl.obolibrary.org/obo/MONDO_0014920 MCRPE|MAPKAPK3 patterned macular dystrophy|patterned macular dystrophy type 3|MDPT3|macular dystrophy, patterned, type 3|Martinique crinkled retinal pigment epitheliopathy|macular dystrophy, patterned, 3|patterned macular dystrophy caused by mutation in MAPKAPK3|macular dystrophy, patterned, 3; MDPT3 ordo_disease MONDO:0002927 spindle cell sarcoma biolink:Disease mondo ICDO:8801/3|NCIT:C27005|UMLS:C0205945|DOID:4235 A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas. NCIT:C27005|UMLS:C0205945|DOID:4235 http://purl.obolibrary.org/obo/MONDO_0002927 spindle cell sarcoma HP:0011733 Abnormality of adrenal physiology biolink:PhenotypicFeature mondo UMLS:C4023212 A functional abnormality of the adrenal glands. http://purl.obolibrary.org/obo/HP_0011733 MONDO:0002928 carcinosarcoma biolink:Disease mondo UMLS:C1334603|UMLS:C0007140|UMLS:C0206627|NCIT:C34448|ICDO:8980/3|MESH:D002296|DOID:4236|GARD:0006966 A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. MESH:D002296|UMLS:C1334603|NCIT:C34448|DOID:4236|UMLS:C0206627|UMLS:C0007140 http://purl.obolibrary.org/obo/MONDO_0002928 malignant mixed mesodermal (mullerian) tumor|carcinosarcoma|mullerian mixed tumor (morphologic abnormality)|mixed tumor, Mullerian|mullerian mixed tumor|malignant mixed Mullerian tumor|mixed mesodermal (mullerian) tumor|carcinosarcoma, malignant|mesodermal mixed tumor (morphologic abnormality)|mixed Mullerian tumor|MMMT|mesodermal mixed tumor MONDO:0002929 pulmonary immaturity biolink:Disease mondo DOID:424|COHD:258554|SCTID:42908004|ICD10:P28.0|ICD9:770.4 SNOMEDCT:42908004|DOID:424 http://purl.obolibrary.org/obo/MONDO_0002929 primary atelectasis, in perinatal period|primary atelectasis of newborn MONDO:0002923 uterine corpus endometrial stromal sarcoma biolink:Disease mondo DOID:4227|NCIT:C40219|UMLS:C1519849 A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma. UMLS:C1519849|NCIT:C40219|DOID:4227 http://purl.obolibrary.org/obo/MONDO_0002923 uterine corpus endometrial stromal sarcoma|body of uterus endometrioid stromal sarcoma|endometrioid stromal sarcoma of body of uterus|uterine corpus ess|uterine corpus endometrial stromal tumor|body of uterus endometrial stromal sarcoma MONDO:0002924 smooth muscle cancer biolink:Disease mondo DOID:4230|UMLS:C1334620|NCIT:C6511 A malignant neoplasm arising from smooth muscle. NCIT:C6511|UMLS:C1334620|DOID:4230 http://purl.obolibrary.org/obo/MONDO_0002924 malignant neoplasm of smooth muscle|malignant smooth muscle tumor|malignant tumor of the smooth muscle|smooth muscle cancer|cancer of the smooth muscle|cancer of smooth muscle|malignant smooth muscle neoplasm|malignant tumor of smooth muscle|malignant neoplasm of the smooth muscle MONDO:0002925 obsolete extraosseous Ewing's sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002925 MONDO:0002926 clear cell sarcoma biolink:Disease mondo DOID:4233|ONCOTREE:CCS|NCIT:C3745|SCTID:402561003|EFO:0008498|ICD9:171.9|ICDO:9044/3|UMLS:C0206651|MESH:D018227 A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. MESH:D018227|SNOMEDCT:402561003|NCIT:C3745|DOID:4233|UMLS:C0206651 http://purl.obolibrary.org/obo/MONDO_0002926 clear cell sarcoma (morphologic abnormality)|clear cell sarcoma of soft tissue|clear cell sarcoma of soft parts|malignant melanoma of the soft parts|clear cell sarcoma - not kidney|melanoma, malignant, of soft parts|adult soft part clear cell sarcoma|chordoid sarcoma|malignant melanoma of soft tissues|clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)|malignant melanoma of soft parts MONDO:0002941 anal margin carcinoma biolink:Disease mondo NCIT:C7472|DOID:4284|UMLS:C0349534 A carcinoma that arises from epithelial cells of the perianal skin DOID:4284|NCIT:C7472|UMLS:C0349534 http://purl.obolibrary.org/obo/MONDO_0002941 carcinoma of anal margin|anal margin carcinoma|carcinoma of the anal margin|perianal skin carcinoma|carcinoma of perianal skin|anal margin cancer MONDO:0002942 sebaceous basal cell carcinoma biolink:Disease mondo DOID:4286 DOID:4286 http://purl.obolibrary.org/obo/MONDO_0002942 skin basosebaceous basal cell carcinoma MONDO:0002943 external ear basal cell carcinoma biolink:Disease mondo UMLS:C1333491|DOID:4287|NCIT:C6082 A basal cell carcinoma that arises from the skin of the external ear. UMLS:C1333491|DOID:4287|NCIT:C6082 http://purl.obolibrary.org/obo/MONDO_0002943 external Ear basal cell carcinoma|basal cell carcinoma of external Ear|basal cell external ear carcinoma|basal cell carcinoma of the external Ear|skin basal cell carcinoma of external ear|basal cell carcinoma of the external ear|external ear skin basal cell carcinoma|basal cell carcinoma of external ear MONDO:0002944 external ear carcinoma biolink:Disease mondo UMLS:C1333492|DOID:4288|NCIT:C6081 A carcinoma that arises from epithelial cells of the external ear UMLS:C1333492|DOID:4288|NCIT:C6081 http://purl.obolibrary.org/obo/MONDO_0002944 external Ear carcinoma|external ear carcinoma|carcinoma of external ear|carcinoma of external Ear|carcinoma of the external Ear|carcinoma of the external ear MONDO:0002940 anal margin basal cell carcinoma biolink:Disease mondo UMLS:C1332269|ICD10:C44.510|DOID:4283|NCIT:C7473 A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare. UMLS:C1332269|DOID:4283|NCIT:C7473 http://purl.obolibrary.org/obo/MONDO_0002940 basal cell carcinoma of perianal skin|perianal skin skin basal cell carcinoma|basal cell carcinoma of anal margin|basal cell carcinoma of the perianal skin|basal cell carcinoma of the anal margin|anal margin basal cell carcinoma|skin basal cell carcinoma of perianal skin|perianal skin basal cell carcinoma MONDO:0014905 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome biolink:Disease mondo UMLS:C4310726|OMIM:617086|Orphanet:485421 http://identifiers.org/omim/617086|ORPHA:485421|UMLS:C4310726 http://purl.obolibrary.org/obo/MONDO_0014905 encephalopathy due to defective mitochondrial and peroxisomal fission type 2|EMPF2|encephalopathy due to defective mitochondrial and peroxisomal fission 2; EMPF2|encephalopathy due to defective mitochondrial and peroxisomal fission 2 ordo_malformation_syndrome MONDO:0014904 congenital disorder of glycosylation, type IAA biolink:Disease mondo UMLS:C4310727|OMIM:617082 http://identifiers.org/omim/617082|UMLS:C4310727 http://purl.obolibrary.org/obo/MONDO_0014904 congenital disorder of glycosylation, type IAA|congenital disorder of glycosylation, type IAA; CDG1AA|CDG1AA CHEBI:26596 salicylates biolink:ChemicalSubstance mondo Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid. http://purl.obolibrary.org/obo/CHEBI_26596 MONDO:0014903 seizures, benign familial infantile, 5 biolink:Disease mondo UMLS:C4310728|OMIM:617080 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene. UMLS:C4310728|http://identifiers.org/omim/617080 http://purl.obolibrary.org/obo/MONDO_0014903 BFIS5|convulsions, benign familial infantile, 5|seizures, benign familial infantile, 5|benign familial infantile epilepsy caused by mutation in SCN8A|seizures, benign familial infantile, type 5|seizures, benign familial infantile, 5; BFIS5|SCN8A benign familial infantile epilepsy MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 biolink:Disease mondo OMIM:617075 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene. http://identifiers.org/omim/617075 http://purl.obolibrary.org/obo/MONDO_0014902 nasopharyngeal carcinoma caused by mutation in MST1R|susceptibility to nasopharyngeal carcinoma 3|nasopharyngeal carcinoma, susceptibility to, type 3|MST1R nasopharyngeal carcinoma|nasopharyngeal carcinoma, susceptibility to, 3; NPCA3|nasopharyngeal carcinoma, susceptibility to, 3|NPCA3 predisposition MONDO:0014909 primary ciliary dyskinesia 34 biolink:Disease mondo OMIM:617091|DOID:0110610|UMLS:C4310722 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene. http://identifiers.org/omim/617091|DOID:0110610|UMLS:C4310722 http://purl.obolibrary.org/obo/MONDO_0014909 primary ciliary dyskinesia 34 without situs inversus|ciliary dyskinesia, primary, 34; CILD34|ciliary dyskinesia, primary, 34|ciliary dyskinesia, primary, 34, without situs inversus|DNAJB13 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 34|primary ciliary dyskinesia caused by mutation in DNAJB13|CILD34|primary ciliary dyskinesia type 34 MONDO:0014908 microcephaly 17, primary, autosomal recessive biolink:Disease mondo DOID:0070288|OMIM:617090|UMLS:C4310723 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene. http://identifiers.org/omim/617090|DOID:0070288|UMLS:C4310723 http://purl.obolibrary.org/obo/MONDO_0014908 autosomal recessive primary microcephaly caused by mutation in CIT|autosomal recessive primary microcephaly caused by mutation in cit|microcephaly 17, primary, autosomal recessive|microcephaly 17, primary, autosomal recessive; MCPH17|MCPH17|CIT autosomal recessive primary microcephaly|cit autosomal recessive primary microcephaly MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly biolink:Disease mondo UMLS:C4310724|OMIM:617088 http://identifiers.org/omim/617088|UMLS:C4310724 http://purl.obolibrary.org/obo/MONDO_0014907 SRTD15|short-rib thoracic dysplasia 15 with polydactyly; SRTD15|short-rib thoracic dysplasia 15 with polydactyly MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; biolink:Disease mondo UMLS:C4310725|OMIM:617087|NCIT:C150647 An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A. http://identifiers.org/omim/617087|UMLS:C4310725|NCIT:C150647 http://purl.obolibrary.org/obo/MONDO_0014906 CMT2A2B|Charcot-Marie-Tooth disease type 2A2B|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B; CMT2A2B|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B HGNC:6444 KRT6B biolink:OntologyClass mondo http://identifiers.org/hgnc/6444 HGNC:6447 KRT9 biolink:OntologyClass mondo http://identifiers.org/hgnc/6447 MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome biolink:Disease mondo GARD:0013198|SCTID:765435009|UMLS:C4310614|Orphanet:500062|OMIM:617099|DOID:0080163 SNOMEDCT:765435009|UMLS:C4310614|DOID:0080163|ORPHA:500062|http://identifiers.org/omim/617099 http://purl.obolibrary.org/obo/MONDO_0014912 ORAS|otulin-related autoinflammatory syndrome|AUTOINFLAMMATION, panniculitis, and dermatosis syndrome; AIPDS|autoinflammation, panniculitis and dermatosis syndrome|Autoinflammation, panniculitis, and dermatosis syndrome|otulin deficiency|otulipenia|AIPDS ordo_disease|gard_rare MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy biolink:Disease mondo OMIM:617093|EFO:0009155|UMLS:C4310720|Orphanet:541423 A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. UMLS:C4310720|http://identifiers.org/omim/617093|ORPHA:541423 http://purl.obolibrary.org/obo/MONDO_0014911 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy|GRIDHH|growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH ordo_disease|clingen MONDO:0014910 primary ciliary dyskinesia 35 biolink:Disease mondo UMLS:C4310721|OMIM:617092|DOID:0110620 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene. UMLS:C4310721|http://identifiers.org/omim/617092|DOID:0110620 http://purl.obolibrary.org/obo/MONDO_0014910 primary ciliary dyskinesia type 35|TTC25 primary ciliary dyskinesia|primary ciliary dyskinesia 35 with or without situs inversus|ciliary dyskinesia, primary, 35, with or without situs inversus|primary ciliary dyskinesia caused by mutation in TTC25|ciliary dyskinesia, primary, 35; CILD35|ciliary dyskinesia, primary, 35|CILD35|ciliary dyskinesia, primary, type 35 MONDO:0002938 metatypical basal cell carcinoma biolink:Disease mondo ICDO:8095/3|SCTID:254702000|DOID:4281|NCIT:C66903 A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma. NCIT:C66903|SNOMEDCT:254702000|DOID:4281 http://purl.obolibrary.org/obo/MONDO_0002938 basosquamous carcinoma of skin|skin metatypical basal cell carcinoma|skin metatypical carcinoma MONDO:0002939 skin pigmented basal cell carcinoma biolink:Disease mondo SCTID:403909004|UMLS:C1368275|DOID:4282|NCIT:C9359 A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002. SNOMEDCT:403909004|NCIT:C9359|DOID:4282|UMLS:C1368275 http://purl.obolibrary.org/obo/MONDO_0002939 pigmented basal cell carcinoma|skin pigmented basal cell carcinoma MONDO:0002934 intravascular angioleiomyoma biolink:Disease mondo NCIT:C5355|UMLS:C1334267|DOID:4266 A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels. NCIT:C5355|UMLS:C1334267|DOID:4266 http://purl.obolibrary.org/obo/MONDO_0002934 intravascular angioleiomyoma|intravascular angiomyoma HGNC:6440 KRT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6440 HGNC:6441 KRT4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6441 MONDO:0002935 penis basal cell carcinoma biolink:Disease mondo UMLS:C1518949|NCIT:C39961|DOID:4277 A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans. UMLS:C1518949|NCIT:C39961|DOID:4277 http://purl.obolibrary.org/obo/MONDO_0002935 penile basal cell carcinoma|skin of penis skin basal cell carcinoma|skin basal cell carcinoma of penis|penile basal cell cancer|basal cell carcinoma of the penis|penis skin basal cell carcinoma HGNC:6442 KRT5 biolink:OntologyClass mondo http://identifiers.org/hgnc/6442 MONDO:0002936 scrotum basal cell carcinoma biolink:Disease mondo UMLS:C1335934|NCIT:C6386|DOID:4278 A scrotal carcinoma that involves the basal cell. UMLS:C1335934|DOID:4278|NCIT:C6386 http://purl.obolibrary.org/obo/MONDO_0002936 basal cell scrotal carcinoma|scrotum skin basal cell carcinoma|skin basal cell carcinoma of scrotum|basal cell carcinoma of the scrotum|scrotal basal cell carcinoma|basal cell carcinoma of scrotum HP:0011729 Abnormality of joint mobility biolink:PhenotypicFeature mondo UMLS:C4023216 An abnormality in the range and ease of motion of joints across their normal range. http://purl.obolibrary.org/obo/HP_0011729 MONDO:0002937 nodular basal cell carcinoma biolink:Disease mondo UMLS:C1304300|NCIT:C5568|DOID:4280|SCTID:403910009 A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated. NCIT:C5568|UMLS:C1304300|SNOMEDCT:403910009|DOID:4280 http://purl.obolibrary.org/obo/MONDO_0002937 skin solid (nodular) basal cell carcinoma|skin nodulo-ulcerative basal cell carcinoma|Nodulo-ulcerative basal cell carcinoma|circumscribed solid basal cell carcinoma|Rodent Ulcer|basal cell carcinoma, nodular (morphologic abnormality)|basal cell carcinoma, nodular HGNC:6443 KRT6A biolink:OntologyClass mondo http://identifiers.org/hgnc/6443 MONDO:0002910 peroneal neuropathy biolink:Disease mondo UMLS:C0747533|NCIT:C27596|MESH:D020427|DOID:4201 Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31) NCIT:C27596|MESH:D020427|DOID:4201|UMLS:C0747533 http://purl.obolibrary.org/obo/MONDO_0002910 peroneal neuropathy MONDO:0002911 brain stem glioma biolink:Disease mondo NCIT:C8501|SCTID:444545003|UMLS:C0677865|DOID:4202 A neuroglial tumor that arises from the brain stem. UMLS:C0677865|SNOMEDCT:444545003|DOID:4202|NCIT:C8501 http://purl.obolibrary.org/obo/MONDO_0002911 brainstem neuroglial tumor|brain stem neuroglial tumor|brainstem glioma|diffuse brainstem glioma|brain stem glioma|glioma of brain stem|malignant glioma of brainstem|glioma of the brain stem|brainstem malignant glioma|glioma of the brainstem|glioma of brainstem|brain stem neuroglial neoplasm|brainstem neuroglial neoplasm GO:0099550 trans-synaptic signaling, modulating synaptic transmission biolink:OntologyClass mondo Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse. http://purl.obolibrary.org/obo/GO_0099550 HGNC:6458 KRT81 biolink:OntologyClass mondo http://identifiers.org/hgnc/6458 MONDO:0014901 tooth agenesis, selective, 8 biolink:Disease mondo UMLS:C4310730|OMIM:617073 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene. UMLS:C4310730|http://identifiers.org/omim/617073 http://purl.obolibrary.org/obo/MONDO_0014901 tooth agenesis, selective, type 8|tooth agenesis, selective, 8; STHAG8|STHAG8|tooth agenesis, selective, 8|WNT10B tooth agenesis|tooth agenesis caused by mutation in WNT10B MONDO:0002909 hyperglycemia biolink:Disease mondo MESH:D006943|ICD10:R73.9|COHD:4214376|DOID:4195|UMLS:C0020456|ICD9:790.6|SCTID:80394007 Abnormally high level of glucose in the blood. DOID:4195|MESH:D006943|NCIT:C26797|UMLS:C0020456|SNOMEDCT:80394007 http://purl.obolibrary.org/obo/MONDO_0002909 MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y biolink:Disease mondo SCTID:725907002|DOID:0110289|ICD10:G71.0|UMLS:C4310731|OMIM:617072|Orphanet:424261 Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. SNOMEDCT:725907002|ORPHA:424261|UMLS:C4310731|http://identifiers.org/omim/617072|DOID:0110289 http://purl.obolibrary.org/obo/MONDO_0014900 LGMD2Y|muscular dystrophy, limb-girdle, type 2Y; LGMD2Y|muscular dystrophy, limb-girdle, type 2Y|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1|autosomal recessive muscular dystrophy due to LAP1B deficiency|autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency|muscular dystrophy with progressive weakness, distal contractures and rigid spine|TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2y ordo_disease MONDO:0002905 mutism (disease) biolink:Disease mondo DOID:4189|MESH:D009155|HP:0002300|UMLS:C0026884 The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44) UMLS:C0026884|MESH:D009155|DOID:4189 http://purl.obolibrary.org/obo/MONDO_0002905 mutism MONDO:0002906 obsolete scleroderma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002906 MONDO:0002907 intracranial thrombosis biolink:Disease mondo SCTID:71444005|COHD:441874|UMLS:C0752143|MESH:D020767|DOID:4193|ICD9:434.00|ICD9:434.0 Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis. DOID:4193|SNOMEDCT:71444005|MESH:D020767|UMLS:C0752143 http://purl.obolibrary.org/obo/MONDO_0002907 cerebral thrombosis MONDO:0002908 glucose metabolism disease biolink:Disease mondo MESH:D044882|SCTID:126877002|UMLS:C1257958|DOID:4194|ICD9:271.8|NCIT:C53655 A metabolic disorder characterized by abnormal blood glucose levels. DOID:4194|SNOMEDCT:126877002|UMLS:C1257958|NCIT:C53655|MESH:D044882 http://purl.obolibrary.org/obo/MONDO_0002908 glucose metabolism disorder|disorder of glucose metabolism MONDO:0002901 blood group incompatibility biolink:Disease mondo CSP:0440-3703|DOID:4176|UMLS:C0005806 UMLS:C0005806|DOID:4176 http://purl.obolibrary.org/obo/MONDO_0002901 MONDO:0002902 obsolete pseudohypoparathyroidism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002902 MONDO:0002903 articulation disorder biolink:Disease mondo COHD:4039744|MESH:D001184|ICD9:315.39|SCTID:386701004|NCIT:C92564|DOID:4186 A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants). NCIT:C92564|SNOMEDCT:386701004|MESH:D001184|DOID:4186 http://purl.obolibrary.org/obo/MONDO_0002903 articulation impairment|phonological disorder MONDO:0002904 echolalia (disease) biolink:Disease mondo DOID:4188|HP:0010529|MESH:D004454 A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song. NCIT:C97166|MESH:D004454|DOID:4188 http://purl.obolibrary.org/obo/MONDO_0002904 echolalia MONDO:0002920 malignant ovarian Brenner tumor biolink:Disease mondo NCIT:C4270|EFO:1000357|ICDO:9000/3|DOID:4217|UMLS:C0334495 A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good. NCIT:C4270|UMLS:C0334495|DOID:4217 http://purl.obolibrary.org/obo/MONDO_0002920 malignant Brenner tumor of ovary|ovarian Brenner tumor, malignant|malignant ovarian Brenner tumor|malignant Brenner tumor of the ovary MONDO:0002921 congenital structural myopathy biolink:Disease mondo DOID:422|MESH:D020914|NCIT:C84648|UMLS:C0752282 A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. NCIT:C84648|MESH:D020914|UMLS:C0752282|DOID:422 http://purl.obolibrary.org/obo/MONDO_0002921 centronuclear myopathy GO:0099565 chemical synaptic transmission, postsynaptic biolink:OntologyClass mondo The part of synaptic transmission occurring in the post-synapse: a signal transduction pathway consisting of neurotransmitter receptor activation and its effects on postsynaptic membrane potential and the ionic composition of the postsynaptic cytosol. http://purl.obolibrary.org/obo/GO_0099565 postsynaptic process involved in chemical synaptic transmission MONDO:0002922 pyoderma biolink:Disease mondo MESH:D011711|ICD9:686.09|ICD9:686.00|UMLS:C0034212|COHD:133547|ICD10:L08.0|ICD9:686.0|DOID:4223|SCTID:70759006 Any skin disease that is pyegenic. UMLS:C0034212|DOID:4223|SNOMEDCT:70759006|MESH:D011711 http://purl.obolibrary.org/obo/MONDO_0002922 HGNC:6469 KYNU biolink:OntologyClass mondo http://identifiers.org/hgnc/6469 HGNC:25070 ACD biolink:OntologyClass mondo http://identifiers.org/hgnc/25070 MONDO:0002916 brainstem intraparenchymal clear cell meningioma biolink:Disease mondo NCIT:C5295|DOID:4209|UMLS:C1332612 A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells. NCIT:C5295|DOID:4209|UMLS:C1332612 http://purl.obolibrary.org/obo/MONDO_0002916 brain stem intraparenchymal clear cell meningioma|intraparenchymal clear cell meningioma of the brainstem|intraparenchymal clear cell meningioma of brainstem MONDO:0002917 disease of pilosebaceous unit biolink:Disease mondo SCTID:201128002|UMLS:C0554472|MESH:D006201|ICD9:704.9|UMLS:C0018500|COHD:135033|DOID:421|NCIT:C34656|ICD9:704.8 A disease that involves the pilosebaceous unit. MESH:D006201|UMLS:C0018500|SNOMEDCT:201128002|DOID:421|NCIT:C34656|UMLS:C0554472 http://purl.obolibrary.org/obo/MONDO_0002917 pilosebaceous unit disease or disorder|hair/hair follicle diseases|disorder of pilosebaceous unit|disease of pilosebaceous unit|disorder of pilosebaceous unit|disease or disorder of pilosebaceous unit|hair and hair follicle diseases|pilosebaceous unit disease|hair disorder|hair disease MONDO:0002918 clear cell meningioma biolink:Disease mondo ICDO:9538/1|NCIT:C4722|DOID:4210|UMLS:C0431121|EFO:1000180|ONCOTREE:CCM A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells. UMLS:C0431121|NCIT:C4722|DOID:4210 http://purl.obolibrary.org/obo/MONDO_0002918 CCM|clear cell meningioma (morphologic abnormality)|clear cell meningioma HGNC:6460 KRT83 biolink:OntologyClass mondo http://identifiers.org/hgnc/6460 MONDO:0002919 posterior cranial fossa meningioma biolink:Disease mondo DOID:4211|NCIT:C6775|UMLS:C1335448 A meningioma that affects the posterior cranial fossa. NCIT:C6775|UMLS:C1335448|DOID:4211 http://purl.obolibrary.org/obo/MONDO_0002919 posterior cranial fossa meningioma (disease)|meningioma (disease) of posterior cranial fossa|meningioma of posterior cranial fossa|meningioma of the posterior cranial fossa MONDO:0002912 brainstem cancer biolink:Disease mondo ICD9:191.7|SCTID:363473003|MESH:D020295|GARD:0008244|COHD:4180908|NCIT:C3570|ICD10:C71.7|DOID:4203 A primary or metastatic malignant neoplasm that affects the brain stem. SNOMEDCT:363473003|MESH:D020295|NCIT:C3570|DOID:4203 http://purl.obolibrary.org/obo/MONDO_0002912 primary brain stem tumor|brain stem cancer|malignant neoplasm of the brainstem|malignant brainstem tumor|malignant brainstem neoplasm|malignant tumor of brain stem|malignant tumor of the brain stem|malignant neoplasm of brainstem|malignant tumor of the brainstem|neoplasm of adult brain stem|tumor of adult brainstem|tumor of the brainstem|brainstem cancer|malignant tumor of brainstem|primary brain stem neoplasm|malignant neoplasm of the brain stem|malignant brain stem neoplasm|malignant brain stem tumor|neoplasm of brain stem|malignant neoplasm of brain stem|cancer of brainstem gard_rare HGNC:6462 KRT85 biolink:OntologyClass mondo http://identifiers.org/hgnc/6462 MONDO:0002913 cerebellar neoplasm biolink:Disease mondo UMLS:C0007762|SCTID:126960003|ICD9:191.6|NCIT:C2935|DOID:4205|MESH:D002528|ICD10:C71.6 A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003 UMLS:C0007762|SNOMEDCT:126960003|MESH:D002528|NCIT:C2935|DOID:4205 http://purl.obolibrary.org/obo/MONDO_0002913 cerebellar cancer|malignant tumor of cerebellum|neoplasm of cerebellum|cerebellar tumor|cerebellum neoplasm|tumor of the cerebellum|cerebellum cancer|cerebellum tumor|tumor of cerebellum|cerebellum neoplasm (disease)|neoplasm of the cerebellum|cerebellar neoplasm HGNC:6463 KRT86 biolink:OntologyClass mondo http://identifiers.org/hgnc/6463 MONDO:0002914 childhood brain stem neoplasm biolink:Disease mondo NCIT:C5969|EFO:1001767|UMLS:C1332951|DOID:4206 A neoplasm that affects the brain stem and occurs during childhood. NCIT:C5969|DOID:4206|UMLS:C1332951 http://purl.obolibrary.org/obo/MONDO_0002914 childhood brain stem neoplasm|childhood neoplasm of brain stem|childhood neoplasm of the brain stem|brainstem cancer of childhood|pediatric tumor of brain stem|childhood brain stem tumor|pediatric tumor of brainstem|pediatric tumor of the brain stem|pediatric brainstem neoplasm|pediatric tumor of the brainstem|childhood neoplasm of the brainstem|childhood neoplasm of brainstem|childhood brainstem cancer|childhood brainstem tumor|pediatric neoplasm of brain stem|brain stem neoplasm|pediatric brain stem tumor|pediatric neoplasm of the brain stem|pediatric brain stem neoplasm|childhood tumor of brain stem|childhood tumor of the brain stem|childhood brainstem neoplasm|childhood tumor of the brainstem|childhood tumor of brainstem|pediatric neoplasm of the brainstem|pediatric brainstem cancer|pediatric neoplasm of brainstem|pediatric brainstem cancer|pediatric brainstem tumor GO:0099568 cytoplasmic region biolink:OntologyClass mondo Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. http://purl.obolibrary.org/obo/GO_0099568 MONDO:0002915 childhood infratentorial neoplasm biolink:Disease mondo NCIT:C5802|UMLS:C1332973|DOID:4207 A neoplasm that affects the infratentorial region of the brain and occurs during childhood. NCIT:C5802|DOID:4207|UMLS:C1332973 http://purl.obolibrary.org/obo/MONDO_0002915 pediatric infratentorial neoplasm|childhood infratentorial neoplasm|pediatric infratentorial neoplasm|childhood infratentorial tumors|infratentorial neoplasm of childhood|childhood infratentorial tumor|childhood infratentorial neoplasms|pediatric infratentorial tumor GO:0002580 regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. http://purl.obolibrary.org/obo/GO_0002580 regulation of peptide or polysaccharide antigen processing and presentation via MHC class II GO:0002581 negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. http://purl.obolibrary.org/obo/GO_0002581 negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002582 positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. http://purl.obolibrary.org/obo/GO_0002582 up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II HGNC:13187 ZP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13187 SO:0000946 integration_excision_site biolink:SequenceFeature mondo A region specifically recognised by a recombinase, which inserts or removes another region marked by a distinct cognate integration/excision site. http://purl.obolibrary.org/obo/SO_0000946 attachment site|integration excision site GO:0002562 somatic diversification of immune receptors via germline recombination within a single locus biolink:OntologyClass mondo The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. http://purl.obolibrary.org/obo/GO_0002562 HGNC:13164 CNBP biolink:OntologyClass mondo http://identifiers.org/hgnc/13164 GO:0002577 regulation of antigen processing and presentation biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of antigen processing and presentation. http://purl.obolibrary.org/obo/GO_0002577 GO:0002578 negative regulation of antigen processing and presentation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation. http://purl.obolibrary.org/obo/GO_0002578 down-regulation of antigen processing and presentation|down regulation of antigen processing and presentation|inhibition of antigen processing and presentation|downregulation of antigen processing and presentation GO:0002579 positive regulation of antigen processing and presentation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation. http://purl.obolibrary.org/obo/GO_0002579 stimulation of antigen processing and presentation|upregulation of antigen processing and presentation|up-regulation of antigen processing and presentation|up regulation of antigen processing and presentation|activation of antigen processing and presentation GO:0002573 myeloid leukocyte differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. http://purl.obolibrary.org/obo/GO_0002573 myeloid leucocyte differentiation GO:0002574 thrombocyte differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a thrombocyte, a nucleated cell found in all vertebrates but mammals involved in hemostasis. http://purl.obolibrary.org/obo/GO_0002574 HGNC:25151 ADAT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/25151 HGNC:25155 HOGA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25155 GO:1905951 mitochondrion DNA recombination biolink:OntologyClass mondo Any DNA recombination that takes place in mitochondrion. http://purl.obolibrary.org/obo/GO_1905951 DNA recombination in mitochondria GO:1905952 regulation of lipid localization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of lipid localization. http://purl.obolibrary.org/obo/GO_1905952 regulation of lipid localisation GO:1905953 negative regulation of lipid localization biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of lipid localization. http://purl.obolibrary.org/obo/GO_1905953 down-regulation of lipid localization|downregulation of lipid localisation|down regulation of lipid localisation|inhibition of lipid localisation|negative regulation of lipid localisation|downregulation of lipid localization|down-regulation of lipid localisation|down regulation of lipid localization|inhibition of lipid localization GO:1905954 positive regulation of lipid localization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of lipid localization. http://purl.obolibrary.org/obo/GO_1905954 up regulation of lipid localisation|upregulation of lipid localization|up-regulation of lipid localisation|activation of lipid localisation|up regulation of lipid localization|up-regulation of lipid localization|upregulation of lipid localisation|activation of lipid localization|positive regulation of lipid localisation HGNC:13176 IKZF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13176 GO:1903304 positive regulation of pyruvate kinase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of pyruvate kinase activity. http://purl.obolibrary.org/obo/GO_1903304 up-regulation of phosphoenol transphosphorylase activity|up-regulation of pyruvate kinase activity|positive regulation of ATP:pyruvate 2-O-phosphotransferase activity|activation of pyruvate kinase activity|upregulation of phosphoenolpyruvate kinase activity|up regulation of phosphoenol transphosphorylase activity|up regulation of ATP:pyruvate 2-O-phosphotransferase activity|activation of phosphoenol transphosphorylase activity|positive regulation of phosphoenol transphosphorylase activity|up-regulation of ATP:pyruvate 2-O-phosphotransferase activity|upregulation of pyruvate kinase activity|activation of ATP:pyruvate 2-O-phosphotransferase activity|upregulation of phosphoenol transphosphorylase activity|up-regulation of phosphoenolpyruvate kinase activity|up regulation of phosphoenolpyruvate kinase activity|upregulation of ATP:pyruvate 2-O-phosphotransferase activity|up regulation of pyruvate kinase activity|positive regulation of phosphoenolpyruvate kinase activity|activation of phosphoenolpyruvate kinase activity GO:1903303 negative regulation of pyruvate kinase activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of pyruvate kinase activity. http://purl.obolibrary.org/obo/GO_1903303 downregulation of phosphoenol transphosphorylase activity|downregulation of pyruvate kinase activity|negative regulation of phosphoenolpyruvate kinase activity|down-regulation of phosphoenolpyruvate kinase activity|down regulation of pyruvate kinase activity|inhibition of pyruvate kinase activity|down regulation of phosphoenolpyruvate kinase activity|downregulation of ATP:pyruvate 2-O-phosphotransferase activity|down-regulation of pyruvate kinase activity|negative regulation of phosphoenol transphosphorylase activity|down-regulation of phosphoenol transphosphorylase activity|inhibition of phosphoenolpyruvate kinase activity|downregulation of phosphoenolpyruvate kinase activity|down regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of ATP:pyruvate 2-O-phosphotransferase activity|down regulation of phosphoenol transphosphorylase activity|negative regulation of ATP:pyruvate 2-O-phosphotransferase activity|down-regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of phosphoenol transphosphorylase activity GO:1903302 regulation of pyruvate kinase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of pyruvate kinase activity. http://purl.obolibrary.org/obo/GO_1903302 regulation of phosphoenolpyruvate kinase activity|regulation of ATP:pyruvate 2-O-phosphotransferase activity|regulation of phosphoenol transphosphorylase activity HP:0033095 Increased sulfur amino acid level in urine biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0033095 An elevated level of a sulfur-containing amino acid in the urine.|Increased sulfur-containing amino acid level in urine|Increased sulphur amino acid level in urine GO:1903319 positive regulation of protein maturation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein maturation. http://purl.obolibrary.org/obo/GO_1903319 up-regulation of protein maturation|activation of protein maturation|upregulation of protein maturation|up regulation of protein maturation GO:1903318 negative regulation of protein maturation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of protein maturation. http://purl.obolibrary.org/obo/GO_1903318 downregulation of protein maturation|down regulation of protein maturation|inhibition of protein maturation|down-regulation of protein maturation GO:1903317 regulation of protein maturation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein maturation. http://purl.obolibrary.org/obo/GO_1903317 GO:1903316 positive regulation of nitrogen cycle metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of nitrogen cycle metabolic process. http://purl.obolibrary.org/obo/GO_1903316 up-regulation of nitrogen cycle metabolic process|activation of nitrogen cycle metabolic process|upregulation of nitrogen cycle metabolic process|up regulation of nitrogen cycle metabolic process GO:1903315 negative regulation of nitrogen cycle metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of nitrogen cycle metabolic process. http://purl.obolibrary.org/obo/GO_1903315 downregulation of nitrogen cycle metabolic process|down regulation of nitrogen cycle metabolic process|inhibition of nitrogen cycle metabolic process|down-regulation of nitrogen cycle metabolic process GO:1903314 regulation of nitrogen cycle metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of nitrogen cycle metabolic process. http://purl.obolibrary.org/obo/GO_1903314 HGNC:25135 LRSAM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25135 ENVO:01001836 montane biome biolink:OntologyClass mondo A biome which is subject to montane altitudinal conditions. http://purl.obolibrary.org/obo/ENVO_01001836 ENVO:01001838 arid biome biolink:OntologyClass mondo A biome which is subject to arid environmental conditions. http://purl.obolibrary.org/obo/ENVO_01001838 HGNC:25133 MARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25133 HGNC:13156 ZNF81 biolink:OntologyClass mondo http://identifiers.org/hgnc/13156 GO:0051560 mitochondrial calcium ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. http://purl.obolibrary.org/obo/GO_0051560 mitochondrial calcium ion concentration regulation|calcium ion homeostasis in mitochondria|regulation of calcium ion concentration in mitochondria|regulation of mitochondrial calcium ion concentration|regulation of calcium ion concentration in mitochondrion|calcium ion homeostasis in mitochondrion GO:0099503 secretory vesicle biolink:OntologyClass mondo A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. http://purl.obolibrary.org/obo/GO_0099503 GO:0002522 leukocyte migration involved in immune response biolink:OntologyClass mondo The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response. http://purl.obolibrary.org/obo/GO_0002522 leukocyte trafficking during immune response|immune cell migration during immune response|leucocyte migration during immune response|leucocyte trafficking during immune response|immune cell trafficking during immune response GO:0002523 leukocyte migration involved in inflammatory response biolink:OntologyClass mondo The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response. http://purl.obolibrary.org/obo/GO_0002523 leukocyte trafficking during inflammatory response|immune cell migration during inflammatory response|leucocyte migration during inflammatory response|leucocyte trafficking during inflammatory response|immune cell trafficking during inflammatory response|leukocyte migration during inflammatory response ENVO:01001865 concentration of carbon dioxide in an atmosphere biolink:OntologyClass mondo The concentration of carbon dioxide when measured in air that is part of an atmosphere. http://purl.obolibrary.org/obo/ENVO_01001865 GO:0002524 hypersensitivity biolink:OntologyClass mondo An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://purl.obolibrary.org/obo/GO_0002524 hypersensitivity response ENVO:01001862 Solar radiation biolink:OntologyClass mondo Stellar radiation emitted from Sol. http://purl.obolibrary.org/obo/ENVO_01001862 GO:0002520 immune system development biolink:OntologyClass mondo The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/GO_0002520 GO:0002521 leukocyte differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/GO_0002521 leucocyte differentiation|immune cell differentiation HP:0045084 Limb myoclonus biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0045084 Myoclonus of limbs HGNC:13128 ZNF711 biolink:OntologyClass mondo http://identifiers.org/hgnc/13128 GO:0002526 acute inflammatory response biolink:OntologyClass mondo Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/GO_0002526 GO:0051588 regulation of neurotransmitter transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051588 HGNC:25118 OTULIN biolink:OntologyClass mondo http://identifiers.org/hgnc/25118 GO:0051589 negative regulation of neurotransmitter transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051589 inhibition of neurotransmitter transport|down-regulation of neurotransmitter transport|downregulation of neurotransmitter transport|down regulation of neurotransmitter transport GO:0002534 cytokine production involved in inflammatory response biolink:OntologyClass mondo The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002534 cytokine production involved in acute inflammatory response ENVO:01001856 liquid accumulation process biolink:OntologyClass mondo A material accumulation process during which the volume of liquid entity increases. http://purl.obolibrary.org/obo/ENVO_01001856 ENVO:01001852 energy transfer process biolink:OntologyClass mondo A process during which one entity loses energy to another entity. http://purl.obolibrary.org/obo/ENVO_01001852 GO:0002532 production of molecular mediator involved in inflammatory response biolink:OntologyClass mondo The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in acute inflammatory response|production of cellular mediator of acute inflammation GO:1903337 positive regulation of vacuolar transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of vacuolar transport. http://purl.obolibrary.org/obo/GO_1903337 upregulation of vacuolar transport|up regulation of vacuolar transport|activation of vacuolar transport|up-regulation of vacuolar transport GO:1903336 negative regulation of vacuolar transport biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of vacuolar transport. http://purl.obolibrary.org/obo/GO_1903336 down regulation of vacuolar transport|inhibition of vacuolar transport|down-regulation of vacuolar transport|downregulation of vacuolar transport GO:1903335 regulation of vacuolar transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of vacuolar transport. http://purl.obolibrary.org/obo/GO_1903335 NCBITaxon:422676 Aconoidasida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_422676 Hematozoa Vivier 1982 GO:0002538 arachidonic acid metabolite production involved in inflammatory response biolink:OntologyClass mondo The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in acute inflammatory response|production of arachidonic acid metabolites involved in acute inflammatory response|production of arachidonic acid metabolites involved in inflammatory response GO:0002539 prostaglandin production involved in inflammatory response biolink:OntologyClass mondo The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002539 prostaglandin production involved in acute inflammatory response MONDO:0000399 obsolete dyskinetic cerebral palsy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000399 NCBITaxon:38820 Poales organism taxon mondo GC_ID:1|PMID:26350789 http://purl.obolibrary.org/obo/NCBITaxon_38820 MONDO:0000398 obsolete female breast cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000398 MONDO:0000397 ataxic cerebral palsy biolink:Disease mondo NCIT:C97168|SCTID:278512001|UMLS:C0394005|ICD9:343.8|DOID:0050670 A form of cerebral palsy caused by damage to cerebellar structures. DOID:0050670|SNOMEDCT:278512001|UMLS:C0394005|NCIT:C97168 http://purl.obolibrary.org/obo/MONDO_0000397 hypotonic cerebral palsy MONDO:0000396 spastic cerebral palsy biolink:Disease mondo DOID:0050669|ICD9:344.89|SCTID:230773005|UMLS:C0338596|NCIT:C116903 A form of cerebral palsy wherein spasticity is the exclusive impairment present. SNOMEDCT:230773005|DOID:0050669|UMLS:C0338596|NCIT:C116903 http://purl.obolibrary.org/obo/MONDO_0000396 hypertonic cerebral palsy MONDO:0000391 obsolete Bethlem myopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000391 MONDO:0000390 vitelliform macular dystrophy biolink:Disease mondo NCIT:C118788|ICD10:H35.5|SCTID:90036004|DOID:0050661|MESH:D057826|OMIMPS:153840|UMLS:C0339510 A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. NCIT:C118788|UMLS:C0339510|DOID:0050661|SNOMEDCT:90036004|MESH:D057826 http://purl.obolibrary.org/obo/MONDO_0000390 macular dystrophy, vitelliform|vitelliform macular dystrophy MONDO:0024360 central sleep apnea caused by high altitude biolink:Disease mondo UMLS:C4075997|SCTID:91441000119109 UMLS:C4075997|SNOMEDCT:91441000119109 http://purl.obolibrary.org/obo/MONDO_0024360 central sleep apnea caused by high altitude|central sleep apnea due to high altitude MONDO:0000395 alcohol-related birth defect biolink:Disease mondo NCIT:C92727|DOID:0050668|UMLS:C3146244 A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy. UMLS:C3146244|NCIT:C92727|DOID:0050668 http://purl.obolibrary.org/obo/MONDO_0000395 alcohol related birth defect|ARBD MONDO:0024361 circadian rhythm sleep disorder biolink:Disease mondo NCIT:C95071|ICD9:327.30|SCTID:3745000|ICD10:G47.2 A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV) NCIT:C95071|SNOMEDCT:3745000 http://purl.obolibrary.org/obo/MONDO_0024361 sleep-wake schedule disorder|disorders of the sleep-wake schedule|circadian sleep disorder MONDO:0000394 obsolete alcohol-related neurodevelopmental disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000394 MONDO:0000393 partial fetal alcohol syndrome biolink:Disease mondo UMLS:C3661483|DOID:0050666 A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. DOID:0050666|UMLS:C3661483 http://purl.obolibrary.org/obo/MONDO_0000393 MONDO:0024363 rapid eye movement sleep disorder biolink:Disease mondo ICD9:379.59|SCTID:192004002 SNOMEDCT:192004002 http://purl.obolibrary.org/obo/MONDO_0024363 repeated rapid eye movement sleep interruptions MONDO:0000392 obsolete fetal alcohol syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000392 MONDO:0012388 MYP11 biolink:Disease mondo MESH:C566490|UMLS:C1864941|OMIM:609994 UMLS:C1864941|http://identifiers.org/omim/609994|MESH:C566490 http://purl.obolibrary.org/obo/MONDO_0012388 myopia 11, autosomal dominant; MYP11|myopia 11, autosomal dominant|MYP11 MONDO:0012389 MYP12 biolink:Disease mondo UMLS:C1864940|MESH:C566489|OMIM:609995 UMLS:C1864940|http://identifiers.org/omim/609995|MESH:C566489 http://purl.obolibrary.org/obo/MONDO_0012389 myopia 12, autosomal dominant|myopia 12, autosomal dominant; MYP12|MYP12 MONDO:0012386 trichoscyphodysplasia biolink:Disease mondo OMIM:609990|MESH:C536557|UMLS:C1864943|GARD:0009861 UMLS:C1864943|http://identifiers.org/omim/609990|MESH:C536557 http://purl.obolibrary.org/obo/MONDO_0012386 metaphyseal chondrodysplasia with ectodermal dysplasia|Trichoscyphodysplasia|metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia|cupped metaphyses and cone-Shaped epiphyses with alopecia gard_rare MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome biolink:Disease mondo Orphanet:75325|GARD:0009904|MESH:C536064|OMIM:609993|SCTID:722114007 This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. ORPHA:75325|UMLS:C1864942|http://identifiers.org/omim/609993|MESH:C536064|SNOMEDCT:722114007 http://purl.obolibrary.org/obo/MONDO_0012387 osteosclerosis with ichthyosis and POF|sclerosing dysplasia of bone with ichthyosis and premature ovarian failure|sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome|osteosclerosis with ichthyosis and premature ovarian failure ordo_disease HGNC:15766 ADNP biolink:OntologyClass mondo http://identifiers.org/hgnc/15766 MONDO:0012380 autosomal dominant nonsyndromic deafness 53 biolink:Disease mondo UMLS:C1864957|ICD10:H90.3|OMIM:609965|GARD:0009934|DOID:0110579|MESH:C566495 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12. http://identifiers.org/omim/609965|MESH:C566495|DOID:0110579|UMLS:C1864957 http://purl.obolibrary.org/obo/MONDO_0012380 autosomal dominant deafness 53|deafness, autosomal dominant 53|deafness, autosomal dominant 53; DFNA53|deafness, autosomal dominant nonsyndromic sensorineural 53|autosomal dominant nonsyndromic deafness type 53|DFNA53 MONDO:0012381 hyperinsulinism due to INSR deficiency biolink:Disease mondo OMIM:609968|Orphanet:263458|DOID:0070220|MESH:C566494|UMLS:C1864952|ICD10:E16.1|SCTID:721235003 Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. http://identifiers.org/omim/609968|MESH:C566494|SNOMEDCT:721235003|ORPHA:263458|DOID:0070220|UMLS:C1864952 http://purl.obolibrary.org/obo/MONDO_0012381 hyperinsulinemic hypoglycemia, familial, 5|hyperinsulinemic hypoglycemia, familial, 5; HHF5|hyperinsulinemic hypoglycemia due to insulin receptor deficiency|hyperinsulinemic hypoglycemia, familial, type 5|HHF5|hyperinsulinemic hypoglycemia due to INSR deficiency ordo_disease HGNC:15761 OSBPL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15761 MONDO:0012384 panic disorder 3 biolink:Disease mondo UMLS:C1864946|OMIM:609985 http://identifiers.org/omim/609985|UMLS:C1864946 http://purl.obolibrary.org/obo/MONDO_0012384 panic disorder 3|panic disorder susceptibility locus, chromosome 4Q-related|panic disorder type 3|Pand3 MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands biolink:Disease mondo UMLS:C1864944|OMIM:609989|GARD:0009942|MESH:C537354 http://identifiers.org/omim/609989|MESH:C537354|UMLS:C1864944 http://purl.obolibrary.org/obo/MONDO_0012385 cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly|metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands gard_rare MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 biolink:Disease mondo DOID:0070215|SCTID:721236002|UMLS:C4303473|OMIM:609975|MESH:C566493|UMLS:C1864948 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene. http://identifiers.org/omim/609975|MESH:C566493|UMLS:C4303473|SNOMEDCT:721236002|DOID:0070215|UMLS:C1864948 http://purl.obolibrary.org/obo/MONDO_0012382 hyperinsulinemic hypoglycemia due to HADH deficiency|hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH|HADH hyperinsulinemic hypoglycemia (disease)|hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|HHF4|hyperinsulinemic hypoglycemia, familial, 4; HHF4|hyperinsulinemic hypoglycemia, familial, 4|hyperinsulinemic hypoglycemia, familial, type 4|hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency biolink:Disease mondo NCIT:C123729|SCTID:724275005|Orphanet:75391|UMLS:C1864947|OMIM:609981|MESH:C566492|ICD10:D84.8 The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21. SNOMEDCT:724275005|http://identifiers.org/omim/609981|MESH:C566492|UMLS:C1864947|NCIT:C123729|ORPHA:75391 http://purl.obolibrary.org/obo/MONDO_0012383 natural KILLER cell and glucocorticoid deficiency with DNA repair defect|immunodeficiency 54; IMD54|mini-chromosome maintenance 4|natural KILLER cell and glucocorticoid deficiency with DNA repair defect; NKGCD|natural Killer cell deficiency, familial isolated|IMD54|immunodeficiency 54|NKGCD|primary immunodeficiency due to MCM4 deficiency ordo_disease MONDO:0024355 respiratory tract infectious disease biolink:Disease mondo ICD9:519.8|MESH:D012141|SCTID:275498002 Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. MESH:D012141|SNOMEDCT:275498002 http://purl.obolibrary.org/obo/MONDO_0024355 upper respiratory infections|infections, upper respiratory tract|respiratory infection, upper|upper respiratory tract infections|infections, respiratory tract|infections, upper respiratory|infection, respiratory tract|infections, respiratory|respiratory infections|respiratory tract infection MONDO:0024354 cytomegalovirus pneumonia biolink:Disease mondo SCTID:7678002|UMLS:C0276253|NCIT:C35360 Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating. NCIT:C35360|SNOMEDCT:7678002|UMLS:C0276253 http://purl.obolibrary.org/obo/MONDO_0024354 CMV pneumonia|Cytomegalovirus pneumonia|cytomegalovirus pneumonia|Cytomegaloviral pneumonia|Cytomegalovirus caused pneumonia MONDO:0024357 drug induced central sleep apnea biolink:Disease mondo UMLS:C3662033|SCTID:104831000119109 SNOMEDCT:104831000119109|UMLS:C3662033 http://purl.obolibrary.org/obo/MONDO_0024357 drug induced central sleep apnea MONDO:0024356 primary central sleep apnea syndrome biolink:Disease mondo UMLS:C0751762|ICD9:327.21|SCTID:9741000119101|ICD10:G47.31 SNOMEDCT:9741000119101|UMLS:C0751762 http://purl.obolibrary.org/obo/MONDO_0024356 primary central sleep apnea MONDO:0024359 central sleep apnea due to periodic breathing biolink:Disease mondo SCTID:85721000119105|ICD9:786.09|UMLS:C3662057|ICD9:327.27 SNOMEDCT:85721000119105|UMLS:C3662057 http://purl.obolibrary.org/obo/MONDO_0024359 central sleep apnea due to periodic breathing MONDO:0024358 complex sleep apnea biolink:Disease mondo SCTID:230493001|DOID:0080302 A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. SNOMEDCT:230493001|DOID:0080302 http://purl.obolibrary.org/obo/MONDO_0024358 complex sleep apnea|mixed sleep apnea|CompSAS MONDO:0024351 familial pityriasis rubra pilaris biolink:Disease mondo UMLS:C2930842|MESH:C531784 An instance of pityriasis rubra pilaris that is caused by an inherited modification of the individual's genome. UMLS:C2930842|MESH:C531784 http://purl.obolibrary.org/obo/MONDO_0024351 Pityriasis rubra pilaris--familial type|hereditary pityriasis rubra pilaris MONDO:0024350 pityriasis steatoides biolink:Disease mondo UMLS:C1274781|SCTID:403426003|ICD9:696.5 UMLS:C1274781|SNOMEDCT:403426003 http://purl.obolibrary.org/obo/MONDO_0024350 pityriasis steatoides MONDO:0024352 viral respiratory tract infection biolink:Disease mondo ICD9:519.8|NCIT:C27219|SCTID:312133006 A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus. SNOMEDCT:312133006|NCIT:C27219 http://purl.obolibrary.org/obo/MONDO_0024352 viral respiratory tract infection MONDO:0012377 ASPG4 biolink:Disease mondo OMIM:609954 http://identifiers.org/omim/609954 http://purl.obolibrary.org/obo/MONDO_0012377 ASPERGER syndrome, susceptibility to, 4; ASPG4|ASPERGER syndrome, susceptibility to, 4|ASPG4 predisposition MONDO:0012378 GINGF3 biolink:Disease mondo MESH:C537928|GARD:0009911|OMIM:609955 http://identifiers.org/omim/609955|MESH:C537928 http://purl.obolibrary.org/obo/MONDO_0012378 fibromatosis, gingival, hereditary, 3|GGF3|HGF3|hereditary gingival fibromatosis, 3|GINGF3|fibromatosis, gingival, 3; GINGF3|fibromatosis gingival, hereditary, 3|gingival fibromatosis, 3|fibromatosis, gingival, 3 MONDO:0012375 autosomal recessive nonsyndromic deafness 47 biolink:Disease mondo OMIM:609946|ICD10:H90.3|DOID:0110504|GARD:0009935|MESH:C566498|UMLS:C1864964 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3. UMLS:C1864964|http://identifiers.org/omim/609946|MESH:C566498|DOID:0110504 http://purl.obolibrary.org/obo/MONDO_0012375 deafness, neurosensory, autosomal recessive 47|autosomal recessive deafness 47|DFNB47|deafness, autosomal recessive 47; DFNB47|autosomal recessive nonsyndromic deafness type 47|deafness, autosomal recessive 47 MONDO:0012376 autosomal recessive nonsyndromic deafness 55 biolink:Disease mondo ICD10:H90.3|GARD:0009919|MESH:C538203|DOID:0110510|OMIM:609952 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2. MESH:C538203|http://identifiers.org/omim/609952|DOID:0110510 http://purl.obolibrary.org/obo/MONDO_0012376 autosomal recessive deafness 55|autosomal recessive nonsyndromic deafness type 55|DFNB55|deafness, autosomal recessive 55; DFNB55|deafness, autosomal recessive 55 MONDO:0012379 asthma-related traits, susceptibility to, 3 biolink:Disease mondo OMIM:609958 http://identifiers.org/omim/609958 http://purl.obolibrary.org/obo/MONDO_0012379 ASRT3|asthma-related traits, susceptibility to, type 3|asthma-related traits, susceptibility to, 3 predisposition MONDO:0012370 autosomal recessive nonsyndromic deafness 51 biolink:Disease mondo DOID:0110508|GARD:0009918|OMIM:609941|ICD10:H90.3|MESH:C538202 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12. MESH:C538202|http://identifiers.org/omim/609941|DOID:0110508 http://purl.obolibrary.org/obo/MONDO_0012370 deafness, autosomal recessive 51|autosomal recessive nonsyndromic deafness type 51|autosomal recessive deafness 51|deafness, autosomal recessive 51; DFNB51|DFNB51 MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features biolink:Disease mondo MESH:C536182|GARD:0009939|UMLS:C1864966|OMIM:609944 UMLS:C1864966|http://identifiers.org/omim/609944|MESH:C536182 http://purl.obolibrary.org/obo/MONDO_0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features gard_rare MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia biolink:Disease mondo GARD:0009893|OMIM:609945|UMLS:C1864965|MESH:C537100 UMLS:C1864965|MESH:C537100|http://identifiers.org/omim/609945 http://purl.obolibrary.org/obo/MONDO_0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia|brachyphalangy, polydactyly and absent tibiae gard_rare MONDO:0012371 Noonan syndrome 3 biolink:Disease mondo MESH:C537847|UMLS:C1860991|OMIM:609942|DOID:0060581|GARD:0009885 Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. http://identifiers.org/omim/609942|MESH:C537847|UMLS:C1860991|DOID:0060581 http://purl.obolibrary.org/obo/MONDO_0012371 Noonan syndrome 3; NS3|Noonan syndrome 3|KRAS gene related Noonan syndrome|Noonan syndrome caused by mutation in KRAS|Noonan syndrome type 3|NS3|KRAS Noonan syndrome gard_rare MONDO:0012372 obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012372 MONDO:0024344 pityriasis folliculorum biolink:Disease mondo ICD9:696.5|SCTID:200993008|UMLS:C0406312 SNOMEDCT:200993008|UMLS:C0406312 http://purl.obolibrary.org/obo/MONDO_0024344 pityriasis folliculorum HP:0033062 Abnormal factor IX activity biolink:PhenotypicFeature mondo Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. http://purl.obolibrary.org/obo/HP_0033062 MONDO:0000377 malignant Leydig cell tumor biolink:Disease mondo DOID:0050616|UMLS:C0334410|NCIT:C4213|ICDO:8650/3 A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course. NCIT:C4213|UMLS:C0334410|DOID:0050616 http://purl.obolibrary.org/obo/MONDO_0000377 malignant neoplasm of Leydig cell|malignant Leydig cell neoplasm|malignant interstitial cell tumor|Leydig cell cancer|Leydig cell tumor, malignant|cancer of Leydig cell|malignant interstitial cell neoplasm HP:0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye biolink:PhenotypicFeature mondo UMLS:C4024739 Absence or underdevelopment of the anterior segment of the eye. http://purl.obolibrary.org/obo/HP_0008062 MONDO:0024343 pityriasis simplex biolink:Disease mondo SCTID:200767005|ICD9:690.18 SNOMEDCT:200767005 http://purl.obolibrary.org/obo/MONDO_0024343 furfuracea|pityriasis simplex|dandruff MONDO:0000376 respiratory system cancer biolink:Disease mondo ICD9:165.8|DOID:0050615|SCTID:449096009|ICD9:165.9|UMLS:C3164456 A malignant neoplasm involving the respiratory system SNOMEDCT:449096009|UMLS:C3164456|DOID:0050615 http://purl.obolibrary.org/obo/MONDO_0000376 malignant respiratory system neoplasm|cancer of respiratory system|respiratory system cancer|malignant neoplasm of respiratory system MONDO:0000375 bronchus carcinoma in situ biolink:Disease mondo DOID:0050614|SCTID:92557009|UMLS:C2939445 A carcinoma in situ involving a bronchus. UMLS:C2939445|DOID:0050614|SNOMEDCT:92557009 http://purl.obolibrary.org/obo/MONDO_0000375 bronchus in situ carcinoma|carcinoma in situ of bronchus|stage 0 bronchus carcinoma MONDO:0024346 pityriasis amiantacea biolink:Disease mondo ICD9:696.5|SCTID:238924007|UMLS:C0343100 SNOMEDCT:238924007|UMLS:C0343100 http://purl.obolibrary.org/obo/MONDO_0024346 pityriasis amiantacea|tinea amiantacea MONDO:0024345 pityriasis streptogenes biolink:Disease mondo ICD9:696.5|SCTID:200994002 SNOMEDCT:200994002 http://purl.obolibrary.org/obo/MONDO_0024345 pityriasis streptogenes MONDO:0000374 bile duct carcinoma in situ biolink:Disease mondo DOID:0050613 A carcinoma in situ involving a bile duct. DOID:0050613 http://purl.obolibrary.org/obo/MONDO_0000374 stage 0 bile duct carcinoma|bile duct in situ carcinoma|carcinoma in situ of bile duct HP:0008063 Aplasia/Hypoplasia of the lens biolink:PhenotypicFeature mondo UMLS:C4024738 Absence or underdevelopment of the lens. http://purl.obolibrary.org/obo/HP_0008063 Absent/underdeveloped lens|Absent/small lens MONDO:0024348 pityriasis capitis biolink:Disease mondo SCTID:400201008 SNOMEDCT:400201008 http://purl.obolibrary.org/obo/MONDO_0024348 pityriasis capitis MONDO:0000379 malignant Sertoli-Leydig cell tumor biolink:Disease mondo DOID:0050618 A malignant form of Sertoli-leydig cell tumor. DOID:0050618 http://purl.obolibrary.org/obo/MONDO_0000379 Sertoli-Leydig cell tumor, malignant MONDO:0000378 malignant Sertoli cell tumor biolink:Disease mondo ICDO:8630/3|ICDO:8640/3|DOID:0050617|NCIT:C67006|UMLS:C0334406 A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site. NCIT:C67006|UMLS:C0334406|DOID:0050617 http://purl.obolibrary.org/obo/MONDO_0000378 Sertoli cell tumor, malignant|malignant Androblastoma MONDO:0024349 pityriasis alba biolink:Disease mondo SCTID:402296004|ICD9:696.5 SNOMEDCT:402296004 http://purl.obolibrary.org/obo/MONDO_0024349 pityriasis alba CHEBI:63473 aromatic amino-acid anion biolink:ChemicalSubstance mondo An aromatic amino acid whose alpha-carboxylic acid group is ionized (non-protonated). http://purl.obolibrary.org/obo/CHEBI_63473 aromatic amino-acid anions MONDO:0024340 retinal neuroblastoma biolink:Disease mondo NCIT:C6956 A neuroblastoma arising from the retina. NCIT:C6956 http://purl.obolibrary.org/obo/MONDO_0024340 retina neuroblastoma|neuroblastoma of retina|neuroblastoma of the retina|retinal neuroblastoma MONDO:0000373 gall bladder carcinoma in situ biolink:Disease mondo DOID:0050612 A carcinoma in situ involving a gall bladder. DOID:0050612 http://purl.obolibrary.org/obo/MONDO_0000373 gall bladder in situ carcinoma|carcinoma in situ of gall bladder|stage 0 gall bladder carcinoma MONDO:0000372 pharynx carcinoma in situ biolink:Disease mondo NCIT:C4942|SCTID:92681005|DOID:0050611|UMLS:C0347098 Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. NCIT:C4942|DOID:0050611|SNOMEDCT:92681005|UMLS:C0347098 http://purl.obolibrary.org/obo/MONDO_0000372 carcinoma in situ of pharynx|carcinoma in situ of the pharynx|pharynx carcinoma in situ|pharynx in situ carcinoma|stage 0 pharynx carcinoma|stage 0 pharyngeal carcinoma|pharyngeal carcinoma in situ|pharyngeal cancer stage 0|stage 0 pharyngeal cancer|stage 0 pharyngeal throat cancer|stage 0 carcinoma of the pharynx|stage 0 carcinoma of pharynx MONDO:0000371 oral cavity carcinoma in situ biolink:Disease mondo NCIT:C4587|SCTID:92660005|DOID:0050610|UMLS:C0347073 A in situ carcinoma that involves the oral cavity. NCIT:C4587|SNOMEDCT:92660005|DOID:0050610|UMLS:C0347073 http://purl.obolibrary.org/obo/MONDO_0000371 carcinoma in situ of the mouth|carcinoma in situ of mouth|stage 0 oral cavity cancer|stage 0 oral cavity cancer aJCC v6 and v7|mouth carcinoma in situ|stage 0 oral cavity carcinoma|oral cavity in situ carcinoma|stage 0 mouth carcinoma|stage 0 carcinoma of the oral cavity|stage 0 carcinoma of oral cavity|stage 0 oral cavity cancer aJCC v7|stage 0 carcinoma of the mouth|stage 0 carcinoma of mouth|stage 0 oral cavity cancer aJCC v6|carcinoma in situ of the oral cavity|carcinoma in situ of oral cavity MONDO:0024341 retinal cell neoplasm biolink:Disease mondo NCIT:C7061|UMLS:C1335765 A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma. UMLS:C1335765|NCIT:C7061 http://purl.obolibrary.org/obo/MONDO_0024341 retinal neural cell neoplasm|retinal cell tumor|retinal cell neoplasm MONDO:0000370 obsolete Askin's tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000370 MONDO:0012366 GBD3 biolink:Disease mondo UMLS:C1835924|OMIM:609919|MESH:C563686 UMLS:C1835924|http://identifiers.org/omim/609919|MESH:C563686 http://purl.obolibrary.org/obo/MONDO_0012366 gallbladder disease 3|gallbladder disease 3; GBD3|GBD3 MONDO:0012367 retinitis pigmentosa 31 biolink:Disease mondo ICD10:H35.5|OMIM:609923|MESH:C563685|DOID:0110391|GARD:0010396|UMLS:C1835923 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene. UMLS:C1835923|http://identifiers.org/omim/609923|DOID:0110391|MESH:C563685 http://purl.obolibrary.org/obo/MONDO_0012367 RP 31|TOPORS retinitis pigmentosa|retinitis pigmentosa type 31|RP31|retinitis pigmentosa 31; RP31|retinitis pigmentosa 31|retinitis pigmentosa caused by mutation in TOPORS gard_rare MONDO:0012364 dilated cardiomyopathy 1Q biolink:Disease mondo DOID:0110442|ICD10:I42.0|MESH:C563688|OMIM:609915|UMLS:C1835926 A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1. UMLS:C1835926|http://identifiers.org/omim/609915|DOID:0110442|MESH:C563688 http://purl.obolibrary.org/obo/MONDO_0012364 cardiomyopathy, dilated, 1Q|dilated cardiomyopathy type 1Q|CMD1Q|cardiomyopathy, dilated, 1Q; CMD1Q MONDO:0012365 GBD2 biolink:Disease mondo UMLS:C1835925|MESH:C563687|OMIM:609918 UMLS:C1835925|http://identifiers.org/omim/609918|MESH:C563687 http://purl.obolibrary.org/obo/MONDO_0012365 GBD2|gallbladder disease 2|gallbladder disease 2; GBD2 MONDO:0012368 aminoacylase 1 deficiency biolink:Disease mondo MESH:C538246|UMLS:C1835922|GARD:0009741|SCTID:709282004|ICD9:270.8|Orphanet:137754|EFO:1001981|ICD10:E72.8|OMIM:609924 Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. UMLS:C1835922|ORPHA:137754|MESH:C538246|http://identifiers.org/omim/609924|SNOMEDCT:709282004 http://purl.obolibrary.org/obo/MONDO_0012368 aminoacylase 1 deficiency; ACY1D|ACY1D|N-acyl-L-amino acid amidohydrolase deficiency|neurological conditions associated with aminoacylase 1 deficiency|ACY1 deficiency|deficiency of the aminoacylase-1 enzyme|aminoacylase 1 deficiency ordo_disease|gard_rare MONDO:0012369 systemic lupus erythematosus, susceptibility to, 6 biolink:Disease mondo OMIM:609939 http://identifiers.org/omim/609939 http://purl.obolibrary.org/obo/MONDO_0012369 systemic lupus erythematosus, susceptibility to, 6|systemic lupus erythematosus, susceptibility to, 6; SLEB6|SLEB6 predisposition MONDO:0012362 dilated cardiomyopathy 1P biolink:Disease mondo DOID:0110439|ICD10:I42.0|MESH:C563690|OMIM:609909|UMLS:C1835928 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. UMLS:C1835928|http://identifiers.org/omim/609909|DOID:0110439|MESH:C563690 http://purl.obolibrary.org/obo/MONDO_0012362 dilated cardiomyopathy type 1P|CMD1P|cardiomyopathy, dilated, 1P|cardiomyopathy, dilated, type 1P|familial isolated dilated cardiomyopathy caused by mutation in PLN|PLN familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1P; CMD1P HP:0008055 Aplasia/Hypoplasia affecting the uvea biolink:PhenotypicFeature mondo UMLS:C4024746 Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. http://purl.obolibrary.org/obo/HP_0008055 Absent/underdeveloped uvea MONDO:0012363 retinitis pigmentosa 32 biolink:Disease mondo MESH:C563689|UMLS:C1835927|ICD10:H35.5|OMIM:609913|GARD:0010395|DOID:0110355 A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3. UMLS:C1835927|http://identifiers.org/omim/609913|DOID:0110355|MESH:C563689 http://purl.obolibrary.org/obo/MONDO_0012363 retinitis pigmentosa 32|RP32|retinitis pigmentosa type 32|retinitis pigmentosa 32; RP32 gard_rare MONDO:0012360 congenital nongoitrous hypothryoidism 3 biolink:Disease mondo MESH:C567935|DOID:0070127|ICD10:E03.1|UMLS:C2940785|OMIM:609893 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1. http://identifiers.org/omim/609893|UMLS:C2940785|MESH:C567935|DOID:0070127 http://purl.obolibrary.org/obo/MONDO_0012360 thyrotropin resistance|CHNG3|hypothyroidism, congenital, nongoitrous, 3|congenital nongoitrous hypothyroidism 3|hypothyroidism, congenital, nongoitrous, 3; CHNG3|resistance to thyrotropin MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 biolink:Disease mondo OMIM:609903 http://identifiers.org/omim/609903 http://purl.obolibrary.org/obo/MONDO_0012361 systemic lupus erythematosus, susceptibility to, 5; SLEB5|systemic lupus erythematosus, susceptibility to, 5|SLEB5 predisposition HP:0008056 Aplasia/Hypoplasia affecting the eye biolink:PhenotypicFeature mondo UMLS:C4024745 http://purl.obolibrary.org/obo/HP_0008056 Absent/underdeveloped eye|Absent/small eye MONDO:0024333 sciatica biolink:Disease mondo SCTID:23056005|ICD9:724.3|MESH:D012585 A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina. SNOMEDCT:23056005|MESH:D012585 http://purl.obolibrary.org/obo/MONDO_0024333 sciatic neuralgia|neuralgia, sciatic|sciatica, bilateral|neuralgias, sciatic|sciatic Neuralgias|bilateral sciatica|bilateral sciaticas MONDO:0000388 obsolete anonychia congenita biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000388 hyponychia congenita MONDO:0000387 hypochromic microcytic anemia (disease) biolink:Disease mondo HP:0004840|UMLS:C0271901|SCTID:44666001|DOID:0050642|MESH:C536357 Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic). SNOMEDCT:44666001|UMLS:C0271901|MESH:C536357|DOID:0050642 http://purl.obolibrary.org/obo/MONDO_0000387 hypochromic microcytic anemia MONDO:0024332 perennial allergic rhinitis biolink:Disease mondo NCIT:C92189|UMLS:C0035457|SCTID:446096008 Allergic rhinitis caused by indoor allergens and lasting year round. SNOMEDCT:446096008|NCIT:C92189|UMLS:C0035457 http://purl.obolibrary.org/obo/MONDO_0024332 perennial allergic rhinitis|nonseasonal allergic rhinitis|non-seasonal allergic rhinitis MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 biolink:Disease mondo DOID:0050626|ONCOTREE:GINET|UMLS:C2987127|NCIT:C95404 A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas. NCIT:C95404|DOID:0050626|UMLS:C2987127 http://purl.obolibrary.org/obo/MONDO_0000386 digestive system NET|alimentary part of gastrointestinal system neuroendocrine tumor|digestive system neuroendocrine tumor|gastrointestinal neuroendocrine tumors|gastrointestinal neuroendocrine tumor|Gastroenteropancreatic NET|digestive system well differentiated Neuroendocrine tumor|gastrointestinal system neuroendocrine tumor|malignant gastrointestinal neuroendocrine tumor|Gastroenteropancreatic Neuroendocrine tumor|gastrointestinal NET|GINET MONDO:0024335 retrobulbar neuritis biolink:Disease mondo SCTID:230507009 SNOMEDCT:230507009 http://purl.obolibrary.org/obo/MONDO_0024335 MONDO:0000385 benign digestive system neoplasm biolink:Disease mondo NCIT:C4787|DOID:0050624|UMLS:C0497538 A non-metastasizing neoplasm arising from any part of the digestive system. NCIT:C4787|DOID:0050624|UMLS:C0497538 http://purl.obolibrary.org/obo/MONDO_0000385 benign tumor of GI system|alimentary part of gastrointestinal system benign neoplasm|gastrointestinal system benign neoplasm|benign gastrointestinal neoplasm|benign GI tumor|benign GI neoplasm|benign gastrointestinal tumor|benign tumor of digestive system|benign tumor of the digestive system|benign neoplasm of digestive system|benign GI system neoplasm|benign neoplasm of gastrointestinal system|benign neoplasm of the digestive system|benign digestive system tumor|benign tumor of the gastrointestinal system|benign gastrointestinal system tumor|benign tumor of gastrointestinal system|benign GI system tumor|benign tumor of the GI system MONDO:0024334 peripheral nerve lesion biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024334 MONDO:0024337 urothelial neoplasm biolink:Disease mondo UMLS:C1519840|NCIT:C39852 A neoplasm involving a urothelium. UMLS:C1519840|NCIT:C39852 http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm|urothelium neoplasm (disease)|transitional cell neoplasm of the urinary tract|neoplasm of urothelium|urothelium tumor|urothelium neoplasm|tumor of urothelium MONDO:0024336 vulvar adenocarcinoma biolink:Disease mondo DOID:2098|UMLS:C1336975|NCIT:C6380|Orphanet:494454 An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma. NCIT:C6380|UMLS:C1336975|ORPHA:494454|DOID:2098 http://purl.obolibrary.org/obo/MONDO_0024336 vulvar adenocarcinoma|adenocarcinoma of the vulva|adenocarcinoma of vulva|mammalian vulva adenocarcinoma|vulva adenocarcinoma MONDO:0024339 lymph node neoplasm biolink:Disease mondo GARD:0006932|NCIT:C35497 A neoplasm involving a lymph node. NCIT:C35497 http://purl.obolibrary.org/obo/MONDO_0024339 neoplasm of lymph node|lymph node tumor|lymph node neoplasm|lymph node neoplasm (disease)|tumor of lymph node HP:0008071 Maternal hypertension biolink:PhenotypicFeature mondo UMLS:C0565599|SNOMEDCT_US:288250001 Increased blood pressure during a pregnancy. http://purl.obolibrary.org/obo/HP_0008071 HP:0008070 Sparse hair biolink:PhenotypicFeature mondo UMLS:C1837770|MSH:D007039|MEDDRA:10021126|SNOMEDCT_US:56558005|UMLS:C0020678|UMLS:C1860844|SNOMEDCT_US:53602002 Reduced density of hairs. http://purl.obolibrary.org/obo/HP_0008070 Decreased hair growth on body|Hypotrichosis|Sparse hair since birth|Decreased hair growth|Marked hypotrichosis|Sparse hair|Thin, sparse hair hposlim_core MONDO:0000389 atelosteogenesis biolink:Disease mondo SCTID:43814000|DOID:0050648|OMIMPS:108720|UMLS:CN163181 UMLS:CN163181|DOID:0050648|SNOMEDCT:43814000 http://purl.obolibrary.org/obo/MONDO_0000389 MONDO:0024338 mucinous neoplasm biolink:Disease mondo UMLS:C1334811|NCIT:C7070 UMLS:C1334811|NCIT:C7070 http://purl.obolibrary.org/obo/MONDO_0024338 mucinous tumor|mucinous neoplasm MONDO:0000380 paranasal sinus carcinoma biolink:Disease mondo NCIT:C6014|UMLS:C0854995|DOID:0050619 A malignant epithelial neoplasm arising in the paranasal sinus. DOID:0050619|NCIT:C6014|UMLS:C0854995 http://purl.obolibrary.org/obo/MONDO_0000380 accessory sinus cancer|adenoid cystic carcinoma of paranasal sinus|carcinoma of paranasal sinus|accessory sinus carcinoma|paranasal sinus cancer|cancer of paranasal sinus|malignant paranasal sinus neoplasm|paranasal sinus mucoepidermoid carcinoma|paranasal sinus adenoid cystic carcinoma|squamous cell carcinoma of paranasal sinus|carcinoma of the accessory sinus|carcinoma of accessory sinus|paranasal sinus carcinoma|adenoid cystic carcinoma of accessory sinus|mucoepidermoid carcinoma of accessory sinus|paranasal sinus adenocarcinoma|malignant neoplasm of paranasal sinus|epidermoid carcinoma of the paranasal sinus|paranasal sinus squamous cell carcinoma|carcinoma of the paranasal sinus MONDO:0000384 bladder benign neoplasm biolink:Disease mondo UMLS:C0154017|COHD:201824|DOID:0050623|SCTID:91992005|NCIT:C3618|ICD9:223.3 A benign abnormal growth of the cells that comprise the bladder. NCIT:C3618|DOID:0050623|UMLS:C0154017|SNOMEDCT:91992005 http://purl.obolibrary.org/obo/MONDO_0000384 benign tumor of the bladder|benign urinary bladder neoplasm|benign bladder tumor|benign tumor of bladder|urinary bladder benign neoplasm|benign neoplasm of the urinary bladder|benign neoplasm of urinary bladder|benign tumor of the urinary bladder|benign urinary bladder tumor|benign bladder neoplasm|benign tumor of urinary bladder|benign neoplasm of the bladder|benign neoplasm of bladder MONDO:0000383 benign reproductive system neoplasm biolink:Disease mondo DOID:0050622|UMLS:C1332536|NCIT:C7617 A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor. UMLS:C1332536|DOID:0050622|NCIT:C7617 http://purl.obolibrary.org/obo/MONDO_0000383 benign reproductive system neoplasm|reproductive organ benign neoplasm MONDO:0024331 colorectal carcinoma biolink:Disease mondo UMLS:CN221574|DOID:0080199|NCIT:C2955 A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. UMLS:CN221574|DOID:0080199|NCIT:C2955 http://purl.obolibrary.org/obo/MONDO_0024331 carcinoma of the large bowel|colorectal cancer, NOS|cancer of the large bowel|large bowel cancer|carcinoma of large bowel|large intestine carcinoma|cancer of large bowel|colorectal cancer|carcinoma of colorectum|carcinoma of the large intestine|colorectal carcinoma|cancer of the large intestine|large intestine cancer|carcinoma of large intestine|colorectal (colon or rectal) cancer|colorectum carcinoma|cancer of large intestine|large bowel carcinoma|CRC MONDO:0000382 respiratory system benign neoplasm biolink:Disease mondo UMLS:C0497556|SCTID:255166003|DOID:0050621 A benign neoplasm that involves the respiratory system. SNOMEDCT:255166003|DOID:0050621|UMLS:C0497556 http://purl.obolibrary.org/obo/MONDO_0000382 respiratory system benign neoplasm MONDO:0024330 infectious otitis media biolink:Disease mondo NCIT:C84354|UMLS:C2827407|UMLS:C0271429 Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space. NCIT:C84354|UMLS:C0271429|UMLS:C2827407 http://purl.obolibrary.org/obo/MONDO_0024330 infectious otitis Media|otitis media|AOM|middle Ear infection|acute otitis Media MONDO:0000381 infiltrating renal pelvis transitional cell carcinoma biolink:Disease mondo DOID:0050620 A infiltrating urothelial carcinoma that involves the renal pelvis. DOID:0050620 http://purl.obolibrary.org/obo/MONDO_0000381 MONDO:0012355 autosomal recessive nonsyndromic deafness 28 biolink:Disease mondo OMIM:609823|DOID:0110486|ICD10:H90.3|MESH:C565218|UMLS:C1853276|NCIT:C129023 An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss. NCIT:C129023|http://identifiers.org/omim/609823|MESH:C565218|DOID:0110486|UMLS:C1853276 http://purl.obolibrary.org/obo/MONDO_0012355 TRIOBP autosomal recessive nonsyndromic deafness|DFNB28|autosomal recessive nonsyndromic deafness type 28|deafness, autosomal recessive 28; DFNB28|deafness, autosomal recessive type 28|autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP|deafness, autosomal recessive 28|autosomal recessive deafness 28 MONDO:0012356 glomerulocystic kidney disease with hyperuricemia and isosthenuria biolink:Disease mondo OMIM:609886|UMLS:C1835934|MESH:C563693 MESH:C563693|UMLS:C1835934|http://identifiers.org/omim/609886 http://purl.obolibrary.org/obo/MONDO_0012356 glomerulocystic kidney disease with hyperuricemia and isosthenuria MONDO:0012353 erythrocytosis, familial, 3 biolink:Disease mondo UMLS:C1853286|DOID:0080338|OMIM:609820|MESH:C565221 Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene. http://identifiers.org/omim/609820|DOID:0080338|MESH:C565221|UMLS:C1853286 http://purl.obolibrary.org/obo/MONDO_0012353 erythrocytosis, familial, 3|erythrocytosis, familial, type 3|erythrocytosis, familial, 3; ECYT3|EGLN1 familial polycythemia|familial polycythemia caused by mutation in EGLN1|ECYT3 MONDO:0012354 platelet-type bleeding disorder 8 biolink:Disease mondo ICD10:D69.8|UMLS:C1853278|SCTID:725291001|MESH:C565220|Orphanet:36355|OMIM:609821|GARD:0012478|DOID:0060692 P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. ORPHA:36355|DOID:0060692|http://identifiers.org/omim/609821|SNOMEDCT:725291001|MESH:C565220|UMLS:C1853278 http://purl.obolibrary.org/obo/MONDO_0012354 P2Y12 defect|bleeding disorder, platelet-type 8|bleeding disorder, platelet-type, 8|ADP platelet receptor P2Y12 defect|BDPLT8|bleeding disorder due to P2Ry12 defect|bleeding disorder, platelet-type, 8; BDPLT8|bleeding disorder due to P2Rx1 defect, somatic ordo_disease MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency biolink:Disease mondo MESH:C563691|UMLS:C4510944|ICD10:D81.8|Orphanet:231154|OMIM:609889|SCTID:725290000|UMLS:C1835931 Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. MESH:C563691|UMLS:C1835931|UMLS:C4510944|ORPHA:231154|http://identifiers.org/omim/609889|SNOMEDCT:725290000 http://purl.obolibrary.org/obo/MONDO_0012359 Cid due to partial RAG1 deficiency|combined immunodeficiency with expansion of gamma delta T cells|Cid with expansion of gamma delta T cells|ALPHA/BETA T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity ordo_disease MONDO:0012357 glaucoma 1, open angle, G biolink:Disease mondo OMIM:609887|MESH:C563692|UMLS:C1835933 Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene. MESH:C563692|UMLS:C1835933|http://identifiers.org/omim/609887 http://purl.obolibrary.org/obo/MONDO_0012357 open-angle glaucoma caused by mutation in WDR36|GLC1G|glaucoma 1, open angle, type G|glaucoma 1, open angle, G; GLC1G|glaucoma 1, open angle, G|WDR36 open-angle glaucoma MONDO:0012358 LPRS1 biolink:Disease mondo OMIM:609888 http://identifiers.org/omim/609888 http://purl.obolibrary.org/obo/MONDO_0012358 leprosy, susceptibility to, 1; LPRS1|LPRS1|leprosy, susceptibility to, 1|leprosy, Paucibacillary type, susceptibility to, 1 predisposition HP:0008066 Abnormal blistering of the skin biolink:PhenotypicFeature mondo UMLS:C2220104|UMLS:C2132198|UMLS:C0241054 The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. http://purl.obolibrary.org/obo/HP_0008066 Blisters|Blister|Abnormal blistering of the skin|Skin bullae|Skin blisters|Blistering, generalized MONDO:0012351 zygodactyly type 1 biolink:Disease mondo UMLS:C1853294|OMIM:609815|ICD10:Q70.3|MESH:C565223|Orphanet:295187 http://identifiers.org/omim/609815|MESH:C565223|ORPHA:295187|UMLS:C1853294 http://purl.obolibrary.org/obo/MONDO_0012351 syndactyly type 1a|Zygodactyly, Weidenreich type|SD1, Weidenreich type|Zd1|SD1a|syndactyly type 1, Weidenreich type|zygodactyly type 1|ZYGODACTYLY 1 ordo_clinical_subtype MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel biolink:Disease mondo OMIM:609817|MESH:C565222|UMLS:C1853293 http://identifiers.org/omim/609817|MESH:C565222|UMLS:C1853293 http://purl.obolibrary.org/obo/MONDO_0012352 vasculitis, lymphocytic, cutaneous small vessel MONDO:0012350 complement factor H deficiency biolink:Disease mondo MESH:C562875|SCTID:234622003|OMIM:609814|ICD9:279.8 MESH:C562875|SNOMEDCT:234622003|http://identifiers.org/omim/609814 http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency; CFHD|CFHD|complement factor H deficiency|Cfh deficiency|factor H deficiency HP:0045058 Abnormality of the testis size biolink:PhenotypicFeature mondo UMLS:C4073180 An anomaly of the size of the testicle (the male gonad). http://purl.obolibrary.org/obo/HP_0045058 HGNC:15718 APCDD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15718 MONDO:0024390 obsolete actinomycotic infectious disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024390 MONDO:0024392 anaerobic balanitis biolink:Disease mondo SCTID:236746000|UMLS:C0403764 SNOMEDCT:236746000|UMLS:C0403764 http://purl.obolibrary.org/obo/MONDO_0024392 anaerobic balanitis MONDO:0024388 Clostridium infectious disease biolink:Disease mondo EFO:1000874|MESH:D003015|ICD9:040.89|SCTID:56688005 Infections with bacteria of the genus clostridium. MESH:D003015|SNOMEDCT:56688005 http://purl.obolibrary.org/obo/MONDO_0024388 Clostridium infection|commensal Clostridium infection|infections, Clostridium|commensal infections, Clostridium|infection, Clostridium|commensal infection, Clostridium MONDO:0024387 benign ovarian sex cord-stromal tumor biolink:Disease mondo UMLS:C1332528|NCIT:C6803 A sex cord-stromal tumor arising from the ovary, without metastatic potential. UMLS:C1332528|NCIT:C6803 http://purl.obolibrary.org/obo/MONDO_0024387 ovarian sex cord-stromal tumor, benign|ovarian SEX cord-stromal tumor, benign|Sex cord stromal tumor, benign|benign Sex cord-stromal tumor of the ovary|benign Sex cord-stromal tumor of ovary|benign ovarian Sex cord-stromal neoplasm|benign Sex cord-stromal neoplasm of the ovary|benign Sex cord-stromal neoplasm of ovary|benign ovarian Sex cord-stromal tumor MONDO:0024389 anaerobic bacteria infectious disease biolink:Disease mondo UMLS:C0854328|ICD9:041.84|SCTID:423451008 UMLS:C0854328|SNOMEDCT:423451008 http://purl.obolibrary.org/obo/MONDO_0024389 infection due to anaerobic bacteria|anaerobic bacterial infection|infection caused by anaerobic bacteria MONDO:0024382 circadian rhythm sleep disorder, shift work type biolink:Disease mondo SCTID:713498009|ICD10:G47.26 A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors. SNOMEDCT:713498009 http://purl.obolibrary.org/obo/MONDO_0024382 shift work disorder|circadian rhythm sleep disorder of shift work type MONDO:0024381 circadian rhythm sleep disorder, jet lag type biolink:Disease mondo UMLS:C0231311|ICD10:G47.25 A circadian sleep disorder that results from travelling across time zones. UMLS:C0231311 http://purl.obolibrary.org/obo/MONDO_0024381 jet lag MONDO:0024384 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024384 MONDO:0024386 large cell lung carcinoma, clear cell variant biolink:Disease mondo ONCOTREE:CCLC|NCIT:C4451|UMLS:C1707407 A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen. UMLS:C1707407|NCIT:C4451 http://purl.obolibrary.org/obo/MONDO_0024386 clear cell carcinoma of the lung|clear cell lung carcinoma, large cell type|clear cell carcinoma of the lung, large cell type|clear cell carcinoma of lung, large cell type|large cell lung carcinoma, clear cell variant MONDO:0024385 obsolete arenavirus infectious disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024385 HP:0045005 Neural tube defect biolink:PhenotypicFeature mondo MSH:D009436|UMLS:C0027794|SNOMEDCT_US:253098009 A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. http://purl.obolibrary.org/obo/HP_0045005 Abnormality of neural tube closure NCBITaxon:2697495 Spiralia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2697495 MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type biolink:Disease mondo UMLS:C0393770|DOID:0111141|ICD10:G47.21|SCTID:28011000119104 A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle. DOID:0111141|SNOMEDCT:28011000119104|UMLS:C0393770 http://purl.obolibrary.org/obo/MONDO_0024377 DSPD|sleep-wake schedule disorder, delayed phase|sleepwake schedule disorder, delayed phase|DSPS|delayed sleep phase syndrome|sleep wake schedule disorder, delayed phase type MONDO:0024376 sleep disorder, initiating and maintaining sleep biolink:Disease mondo SCTID:194437008 SNOMEDCT:194437008 http://purl.obolibrary.org/obo/MONDO_0024376 disorders of initiating and maintaining sleep MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type biolink:Disease mondo UMLS:C0393771|ICD9:327.33|ICD10:G47.23|SCTID:271793004 A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day. UMLS:C0393771|SNOMEDCT:271793004 http://purl.obolibrary.org/obo/MONDO_0024379 irregular sleep-wake disorder|ISWD|irregular sleep-wake pattern MONDO:0024378 circadian rhythm sleep disorder, advanced sleep phase type biolink:Disease mondo ICD9:327.32|SCTID:31537005|ICD10:G47.22 A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal. SNOMEDCT:31537005 http://purl.obolibrary.org/obo/MONDO_0024378 sleep-wake schedule disorder, advanced phase type|ASPS|circadian rhythm sleep disorder, advanced sleep phase type|circadian rhythm sleep disorder, advanced sleep phase|advanced sleep phase syndrome UBERON_CORE:transitively_anteriorly_connected_to transitively anteriorly connected to biolink:OntologyClass mondo . http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to MONDO:0012399 complex cortical dysplasia with other brain malformations 7 biolink:Disease mondo OMIM:610031|ICD10:Q04.3|GARD:10783|UMLS:CN203403|DOID:0090132|Orphanet:300573 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene. http://identifiers.org/omim/610031|DOID:0090132|ORPHA:300573|UMLS:CN203403 http://purl.obolibrary.org/obo/MONDO_0012399 polymicrogyria, symmetric or asymmetric; PMGYSA|cortical dysplasia, Complex, with Other brain malformations 7|cortical dysplasia, COMPLEX, with OTHER brain malformations 7; CDCBM7|PMGYSA|polymicrogyria, symmetric or asymmetric|TUBB2B complex cortical dysplasia with other brain malformations|polymicrogyria due to TUBB2B mutation|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B|CDCBM7|complex cortical dysplasia with other brain malformations type 7 ordo_malformation_syndrome HGNC:15714 LRPPRC biolink:OntologyClass mondo http://identifiers.org/hgnc/15714 MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis biolink:Disease mondo OMIM:610023|UMLS:C1864901|MESH:C566484 MESH:C566484|http://identifiers.org/omim/610023|UMLS:C1864901 http://purl.obolibrary.org/obo/MONDO_0012397 brachydactyly, coloboma, and anterior segment dysgenesis MONDO:0012398 retinal cone dystrophy 3A biolink:Disease mondo OMIM:610024|UMLS:C1864900|MESH:C566483|GARD:0010648 MESH:C566483|http://identifiers.org/omim/610024|UMLS:C1864900 http://purl.obolibrary.org/obo/MONDO_0012398 cone dystrophy with night blindness and supernormal rod responses PDE6H-related|achromatopsia 6|cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related|RCD3A|retinal cone dystrophy type 3A|retinal cone dystrophy 3A; RCD3A|retinal cone dystrophy 3A gard_rare HGNC:15710 LDB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/15710 MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant biolink:Disease mondo ICD10:E75.4|DOID:0110724|Orphanet:1947|GARD:0002163|OMIM:610003|GARD:0004010 Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision. http://identifiers.org/omim/610003|ORPHA:1947|DOID:0110724|UMLS:C1864923 http://purl.obolibrary.org/obo/MONDO_0012391 NCL, Northern epilepsy variant|progressive epilepsy - intellectual disability, Finnish type|EPMR|progressive epilepsy with intellectual disability, northern epilepsy|ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant|CLN8 disease, late infantile (subtype)|epilepsy mental deterioration Finnish type|CLN8 disease, EPMR (subtype)|neuronal ceroid lipofuscinosis 8|CLN8 disease, Northern epilepsy variant|epilepsy, progressive, with mental retardation|progressive epilepsy with mental retardation, northern epilepsy|neuronal ceroid lipofuscinosis, Northern epilepsy variant|Northern epilepsy|CLN8|epilepsy, progressive, with intellectual disability|progressive epilepsy-intellectual disability syndrome, Finnish type|northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant|ceroid lipofuscinosis neuronal 8 ordo_disease|gard_rare MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency biolink:Disease mondo UMLS:C1864912|GARD:0010322|Orphanet:79157|MESH:C566487|ICD10:E71.1|NCIT:C98863|OMIM:610006 A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. MESH:C566487|http://identifiers.org/omim/610006|ORPHA:79157|NCIT:C98863|UMLS:C1864912 http://purl.obolibrary.org/obo/MONDO_0012392 developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency|2-methylbutyric aciduria|short branched-chain acyl-CoA dehydrogenase deficiency|2-methylbutyryl Glycinuria|butyryl-CoA dehydrogenase deficiency|short/branched-chain acyl-Coa dehydrogenase deficiency|short/branched-chain acyl-coA dehydrogenase deficiency|SBCAD deficiency|2-methylbutyryl-CoA dehydrogenase deficiency gard_rare|ordo_disease MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death biolink:Disease mondo OMIM:610001|GARD:0009946|MESH:C535381|UMLS:C1864939 http://identifiers.org/omim/610001|MESH:C535381|UMLS:C1864939 http://purl.obolibrary.org/obo/MONDO_0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death gard_rare MONDO:0012395 cataract 18 biolink:Disease mondo ICD10:Q12.0|MESH:C535337|DOID:0110238|OMIM:610019|GARD:0009892 Any cataract in which the cause of the disease is a mutation in the FYCO1 gene. http://identifiers.org/omim/610019|DOID:0110238|MESH:C535337 http://purl.obolibrary.org/obo/MONDO_0012395 CATC2|FYCO1 cataract (disease)|cataract type 18|cataract 18|cataract 18 autosomal recessive|cataract (disease) caused by mutation in FYCO1|cataract 18; CTRCT18|autosomal recessive congenital cataract 2|cataract, autosomal recessive congenital 2|CTRCT18 MONDO:0012396 exercise-induced hyperinsulinism biolink:Disease mondo NCIT:C131839|DOID:0070214|OMIM:610021|ICD10:E16.1|SCTID:715830008|Orphanet:165991|UMLS:C1864904|GARD:0009932|MESH:C538376|UMLS:C1864902 Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. MESH:C538376|ORPHA:165991|http://identifiers.org/omim/610021|NCIT:C131839|SNOMEDCT:715830008|DOID:0070214|UMLS:C1864904|UMLS:C1864902 http://purl.obolibrary.org/obo/MONDO_0012396 hyperinsulinemic hypoglycemia familial 7|MCT1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, 7; HHF7|EIHI|exercise induced hyperinsulinemic hypoglycemia|monocarboxylate transporter 1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, type 7|hyperinsulinism due to monocarboxylate transporter 1 deficiency|hyperinsulinism due to SLC16A1 deficiency|hyperinsulinemic hypoglycemia, familial, 7|hyperinsulinemic hypoglycemia, exercise-induced|exercise-induced hyperinsulinemic hypoglycemia|hyperinsulinemic hypoglycemia exercise-induced|HHF7 ordo_disease MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency biolink:Disease mondo MESH:C536832|ICD10:E72.8|GARD:0009848|Orphanet:71278|UMLS:C1864910|OMIM:610015 http://identifiers.org/omim/610015|MESH:C536832|ORPHA:71278|UMLS:C1864910 http://purl.obolibrary.org/obo/MONDO_0012393 congenital glutamine deficiency|glutamine synthetase deficiency, congenital systemic|glutamine deficiency, congenital|inherited glutamine synthetase deficiency|glutamine synthase deficiency, congenital systemic|inherited GS deficiency ordo_disease MONDO:0012394 multiple synostoses syndrome 2 biolink:Disease mondo MESH:C537380|GARD:0009916|UMLS:C1832708|OMIM:610017 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene. MESH:C537380|UMLS:C1832708|http://identifiers.org/omim/610017 http://purl.obolibrary.org/obo/MONDO_0012394 SYNS2|multiple synostoses syndrome type 2|multiple synostoses syndrome 2; SYNS2|multiple synostoses syndrome 2|multiple synostoses syndrome caused by mutation in GDF5|GDF5 multiple synostoses syndrome gard_rare HP:0045014 Hypolipidemia biolink:PhenotypicFeature mondo UMLS:C0342892|SNOMEDCT_US:238090007 http://purl.obolibrary.org/obo/HP_0045014 MONDO:0002853 rectum rhabdomyosarcoma biolink:Disease mondo UMLS:C1335687|DOID:4053|NCIT:C5627 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum. NCIT:C5627|UMLS:C1335687|DOID:4053 http://purl.obolibrary.org/obo/MONDO_0002853 rectum rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of rectum|rhabdomyosarcoma of the rectum|rectal rhabdomyosarcoma|rhabdomyosarcoma of rectum MONDO:0002854 prostate sarcoma biolink:Disease mondo NCIT:C7731|DOID:4054|UMLS:C0238393 A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma. DOID:4054|NCIT:C7731|UMLS:C0238393 http://purl.obolibrary.org/obo/MONDO_0002854 prostate gland sarcoma|sarcoma of prostate|sarcoma of prostate gland|prostate sarcoma|sarcoma of the prostate MONDO:0002855 ectomesenchymoma biolink:Disease mondo GARD:0012279|DOID:4055|ICDO:8921/3|UMLS:C0431111|NCIT:C4716 An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component. DOID:4055|UMLS:C0431111|NCIT:C4716 http://purl.obolibrary.org/obo/MONDO_0002855 rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)|malignant ectomesenchymoma|ectomesenchymoma|sarcoma with ganglionic or neuroectodermal differentiation|rhabdomyosarcoma with ganglionic differentiation MONDO:0002856 gallbladder rhabdomyosarcoma biolink:Disease mondo NCIT:C5839|DOID:4057|UMLS:C1333756 A rhabdomyosarcoma that is located in the gallbladder. UMLS:C1333756|DOID:4057|NCIT:C5839 http://purl.obolibrary.org/obo/MONDO_0002856 rhabdomyosarcoma (disease) of gall bladder|gall bladder rhabdomyosarcoma (disease)|rhabdomyosarcoma of gallbladder|rhabdomyosarcoma of the gallbladder|gallbladder rhabdomyosarcoma|gall bladder rhabdomyosarcoma HP:0011893 Abnormal leukocyte count biolink:PhenotypicFeature mondo UMLS:C0580531|SNOMEDCT_US:165509000 Number of leukocytes per volume of blood beyond normal limits. http://purl.obolibrary.org/obo/HP_0011893 Abnormal white blood cell count HP:0011895 Anemia due to reduced life span of red cells biolink:PhenotypicFeature mondo UMLS:C4021112 A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. http://purl.obolibrary.org/obo/HP_0011895 Anaemia due to reduced life span of red cells MONDO:0002850 central nervous system rhabdomyosarcoma biolink:Disease mondo DOID:4048|UMLS:C1332891|NCIT:C5464 A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system. UMLS:C1332891|NCIT:C5464|DOID:4048 http://purl.obolibrary.org/obo/MONDO_0002850 rhabdomyosarcoma of the central nervous system|rhabdomyosarcoma (disease) of central nervous system|rhabdomyosarcoma of CNS|central nervous system rhabdomyosarcoma|CNS rhabdomyosarcoma|rhabdomyosarcoma of the CNS|central nervous system rhabdomyosarcoma (disease)|rhabdomyosarcoma of central nervous system MONDO:0002851 mediastinum rhabdomyosarcoma biolink:Disease mondo DOID:4049|NCIT:C6617|UMLS:C1334677 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum. NCIT:C6617|UMLS:C1334677|DOID:4049 http://purl.obolibrary.org/obo/MONDO_0002851 mediastinum rhabdomyosarcoma (disease)|rhabdomyosarcoma of the mediastinum|rhabdomyosarcoma of mediastinum|rhabdomyosarcoma (disease) of mediastinum|mediastinal rhabdomyosarcoma MONDO:0002852 mediastinum sarcoma biolink:Disease mondo DOID:4050|NCIT:C6606|UMLS:C1334678 A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma. NCIT:C6606|UMLS:C1334678|DOID:4050 http://purl.obolibrary.org/obo/MONDO_0002852 sarcoma of mediastinum|mediastinal sarcoma|mediastinum sarcoma|sarcoma of the mediastinum MONDO:0014839 chorea, childhood-onset, with psychomotor retardation biolink:Disease mondo UMLS:C4310787|OMIM:616939 UMLS:C4310787|http://identifiers.org/omim/616939 http://purl.obolibrary.org/obo/MONDO_0014839 chorea, childhood-onset, with psychomotor retardation; COCPMR|chorea, childhood-onset, with psychomotor retardation|COCPMR MONDO:0014838 Coffin-Siris syndrome 5 biolink:Disease mondo OMIM:616938|UMLS:C4310788 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene. UMLS:C4310788|http://identifiers.org/omim/616938 http://purl.obolibrary.org/obo/MONDO_0014838 Coffin-Siris syndrome 5|Coffin-Siris syndrome type 5|Coffin-Siris syndrome caused by mutation in SMARCE1|CSS5|SMARCE1 Coffin-Siris syndrome|COFFIN-SIRIS syndrome 5; CSS5 MONDO:0014837 hereditary thrombocytopenia with early-onset myelofibrosis biolink:Disease mondo OMIM:616937|UMLS:C4310789|Orphanet:480851 UMLS:C4310789|ORPHA:480851|http://identifiers.org/omim/616937 http://purl.obolibrary.org/obo/MONDO_0014837 thrombocytopenia type 6|thrombocytopenia 6; THC6|thrombocytopenia, autosomal dominant, 6|THC6|thrombocytopenia 6 ordo_disease MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC biolink:Disease mondo DOID:0110180|UMLS:C4310790|OMIM:616924 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene. UMLS:C4310790|DOID:0110180|http://identifiers.org/omim/616924 http://purl.obolibrary.org/obo/MONDO_0014836 CMT2CC|Charcot-Marie-Tooth disease, axonal, type 2CC; CMT2CC|NEFH Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in NEFH|Charcot-Marie-Tooth neuropathy type 2CC|Charcot-Marie-Tooth neuropathy, type 2Cc|Charcot-Marie-Tooth disease, axonal, type 2cc CHEBI:26421 pyridines biolink:ChemicalSubstance mondo Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives. http://purl.obolibrary.org/obo/CHEBI_26421 NCBITaxon:133423 Batillus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_133423 MONDO:0014842 intellectual disability, autosomal dominant 41 biolink:Disease mondo OMIM:616944|UMLS:C4310784|DOID:0070071 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene. http://identifiers.org/omim/616944|DOID:0070071|UMLS:C4310784 http://purl.obolibrary.org/obo/MONDO_0014842 autosomal dominant non-syndromic intellectual disability 41|autosomal dominant mental retardation 41|intellectual disability, autosomal dominant 41; MRD41|mental retardation, autosomal dominant 41|mental retardation, autosomal dominant type 41|MRD41|mental retardation, autosomal dominant 41; MRD41|autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1|intellectual disability, autosomal dominant 41|intellectual disability, autosomal dominant type 41|TBL1XR1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 41; MRD41|autosomal dominant intellectual disability 41 MONDO:0014841 trichothiodystrophy 6, nonphotosensitive biolink:Disease mondo OMIM:616943|UMLS:C4310785 Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene. http://identifiers.org/omim/616943|UMLS:C4310785 http://purl.obolibrary.org/obo/MONDO_0014841 trichothiodystrophy 6, nonphotosensitive|trichothiodystrophy 6, nonphotosensitive; TTD6|TTD6|TTD6|nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2|GTF2E2 nonphotosensitive trichothiodystrophy HGNC:6357 KLK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6357 MONDO:0014840 agammaglobulinemia 8, autosomal dominant biolink:Disease mondo OMIM:616941|UMLS:C4310786 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene. http://identifiers.org/omim/616941|UMLS:C4310786 http://purl.obolibrary.org/obo/MONDO_0014840 TCF3 autosomal agammaglobulinemia|agammaglobulinemia, autosomal dominant, due to TCF3 defect|AGM8|AGM8|agammaglobulinemia 8, autosomal dominant|autosomal agammaglobulinemia caused by mutation in TCF3|agammaglobulinemia 8, autosomal dominant; AGM8 HGNC:15804 OVOL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15804 MONDO:0014846 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency biolink:Disease mondo UMLS:C4310780|OMIM:616949|ICD10:G11.1|Orphanet:404493 ORPHA:404493|http://identifiers.org/omim/616949|UMLS:C4310780 http://purl.obolibrary.org/obo/MONDO_0014846 spinocerebellar ataxia, autosomal recessive type 23|spinocerebellar ataxia autosomal recessive type 23|spinocerebellar ataxia, autosomal recessive 23; SCAR23|SCAR23|spinocerebellar ataxia, autosomal recessive 23 ordo_disease MONDO:0014845 spinocerebellar ataxia, autosomal recessive 22 biolink:Disease mondo UMLS:C4310781|OMIM:616948 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene. http://identifiers.org/omim/616948|UMLS:C4310781 http://purl.obolibrary.org/obo/MONDO_0014845 autosomal recessive cerebellar ataxia caused by mutation in VWA3B|SCAR22|spinocerebellar ataxia, autosomal recessive 22|spinocerebellar ataxia, autosomal recessive 22; SCAR22|VWA3B autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive type 22 MONDO:0014844 premature ovarian failure 12 biolink:Disease mondo UMLS:C4310782|OMIM:616947 Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene. http://identifiers.org/omim/616947|UMLS:C4310782 http://purl.obolibrary.org/obo/MONDO_0014844 SYCE1 primary ovarian failure|primary ovarian failure caused by mutation in SYCE1|premature ovarian failure 12|premature ovarian failure type 12|POF12|premature ovarian failure 12; POF12 MONDO:0014843 premature ovarian failure 11 biolink:Disease mondo UMLS:C4310783|OMIM:616946 Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene. http://identifiers.org/omim/616946|UMLS:C4310783 http://purl.obolibrary.org/obo/MONDO_0014843 ERCC6 primary ovarian failure|primary ovarian failure caused by mutation in ERCC6|premature ovarian failure 11|premature ovarian failure type 11|premature ovarian failure 11; POF11|POF11 MONDO:0002846 granulomatous gastritis biolink:Disease mondo DOID:4038|UMLS:C1112577|NCIT:C27348|ICD10:K29.6 Gastritis that is associated with the presence of granulomas. DOID:4038|NCIT:C27348|UMLS:C1112577 http://purl.obolibrary.org/obo/MONDO_0002846 granulomatous gastritis MONDO:0002847 skeletal muscle cancer biolink:Disease mondo DOID:4043|UMLS:C1334619|NCIT:C6516 A malignant neoplasm arising from skeletal muscle. UMLS:C1334619|DOID:4043|NCIT:C6516 http://purl.obolibrary.org/obo/MONDO_0002847 malignant skeletal muscle neoplasm|malignant skeletal muscle tissue neoplasm|malignant tumor of skeletal muscle|cancer of skeletal muscle tissue|malignant neoplasm of the skeletal muscle|malignant neoplasm of skeletal muscle|malignant skeletal muscle tumor|malignant neoplasm of skeletal muscle tissue|skeletal muscle tissue cancer|malignant tumor of the skeletal muscle MONDO:0002848 skeletal muscle neoplasm biolink:Disease mondo SCTID:699955004|NCIT:C6514|ICD9:239.2|UMLS:C1335971|DOID:4044 A benign or malignant mesenchymal neoplasm arising from skeletal muscle. UMLS:C1335971|DOID:4044|NCIT:C6514|SNOMEDCT:699955004 http://purl.obolibrary.org/obo/MONDO_0002848 skeletal muscle tissue neoplasm (disease)|neoplasm of the skeletal muscle|tumor of skeletal muscle|neoplasm of skeletal muscle tissue|neoplasm of skeletal muscle|skeletal muscle tissue tumor|skeletal muscle tumor|skeletal muscle tissue neoplasm|tumor of the skeletal muscle|tumor of skeletal muscle tissue|skeletal muscle neoplasm HGNC:6354 KLHL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6354 MONDO:0002849 liver rhabdomyosarcoma biolink:Disease mondo UMLS:C1333975|DOID:4047|NCIT:C5834 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver. UMLS:C1333975|DOID:4047|NCIT:C5834 http://purl.obolibrary.org/obo/MONDO_0002849 rhabdomyosarcoma (disease) of liver|liver rhabdomyosarcoma|rhabdomyosarcoma of the liver|rhabdomyosarcoma of liver|hepatic rhabdomyosarcoma|liver rhabdomyosarcoma (disease) NCBITaxon:348386 unclassified Lentivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_348386 MONDO:0002864 anus rhabdomyosarcoma biolink:Disease mondo UMLS:C1332276|DOID:4066|NCIT:C5610 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus. NCIT:C5610|UMLS:C1332276|DOID:4066 http://purl.obolibrary.org/obo/MONDO_0002864 rhabdomyosarcoma of the anus|rhabdomyosarcoma (disease) of anus|rhabdomyosarcoma of anus|anal rhabdomyosarcoma|anus rhabdomyosarcoma (disease) MONDO:0000201 obsolete thyroid cancer, nonmedullary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000201 MONDO:0000200 Zimmermann-Laband syndrome biolink:Disease mondo SCTID:699447001|Orphanet:3473|DC:0000708|ICD9:759.89|OMIMPS:135500|MESH:C536725|ICD10:Q87.8|UMLS:C0796013|GARD:0000385 Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. MESH:C536725|SNOMEDCT:699447001|UMLS:C0796013|ORPHA:3473 http://purl.obolibrary.org/obo/MONDO_0000200 Zimmermann-Laband syndrome type 1|ZLS1|Laband syndrome|Zimmermann-Laband syndrome 1|Laband-Zimmermann syndrome|ZLS|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly|fibromatosis gingival, hepatosplenomegaly other anomalies|Zimmerman Laband syndrome prototype_pattern|ordo_malformation_syndrome MONDO:0002865 anus sarcoma biolink:Disease mondo UMLS:C1332277|DOID:4067|NCIT:C5611 A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma. NCIT:C5611|UMLS:C1332277|DOID:4067 http://purl.obolibrary.org/obo/MONDO_0002865 sarcoma of the anus|anal sarcoma|anus sarcoma|sarcoma of anus MONDO:0002866 duodenal disease biolink:Disease mondo UMLS:C0013289|ICD9:537.89|MESH:D004378|SCTID:52182008|DOID:4072|ICD9:537.9 Pathological conditions in the duodenum region of the small intestine (intestine, small). SNOMEDCT:52182008|MESH:D004378|UMLS:C0013289|DOID:4072 http://purl.obolibrary.org/obo/MONDO_0002866 duodenum disease or disorder|disorder of duodenum|duodenum disorder|disease of duodenum|disorder of duodenum|disease or disorder of duodenum|duodenum disease MONDO:0002867 pancreatic cystadenocarcinoma biolink:Disease mondo SCTID:235966007|DOID:4073|UMLS:C0238337|NCIT:C3874 A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes. SNOMEDCT:235966007|UMLS:C0238337|NCIT:C3874|DOID:4073 http://purl.obolibrary.org/obo/MONDO_0002867 acinar cell cystadenocarcinoma|cystadenocarcinoma of pancreas|cystadenocarcinoma of the pancreas|pancreas cystadenocarcinoma|pancreatic cystadenocarcinoma|cystadenocarcinoma - pancreas MONDO:0002860 testis rhabdomyosarcoma biolink:Disease mondo UMLS:C1336726|NCIT:C6378|DOID:4061 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis. NCIT:C6378|UMLS:C1336726|DOID:4061 http://purl.obolibrary.org/obo/MONDO_0002860 rhabdomyosarcoma (disease) of testis|testicular rhabdomyosarcoma|rhabdomyosarcoma of testis|rhabdomyosarcoma of the testis|testis rhabdomyosarcoma (disease) MONDO:0000205 obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000205 MONDO:0002861 testis sarcoma biolink:Disease mondo UMLS:C1336727|DOID:4062|NCIT:C6359 A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas. NCIT:C6359|UMLS:C1336727|DOID:4062 http://purl.obolibrary.org/obo/MONDO_0002861 sarcoma of testis|testis sarcoma|testicular sarcoma|sarcoma of the testis MONDO:0000204 obsolete skin creases, congenital symmetric circumferential biolink:Disease mondo DC:0000715|OMIMPS:156610 http://purl.obolibrary.org/obo/MONDO_0000204 MONDO:0002862 bile duct sarcoma biolink:Disease mondo DOID:4064 A sarcoma that involves the bile duct. DOID:4064 http://purl.obolibrary.org/obo/MONDO_0002862 sarcoma of bile duct|bile duct sarcoma|sarcoma of the bile duct MONDO:0000203 obsolete Dehydrated hereditary stomatocytosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000203 MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features biolink:Disease mondo UMLS:C0334481|DOID:4065|UMLS:C1709053|NCIT:C4259|ICDO:8902/3 A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma. NCIT:C4259|UMLS:C1709053|UMLS:C0334481|DOID:4065 http://purl.obolibrary.org/obo/MONDO_0002863 mixed alveolar rhabdomyosarcoma|rhabdomyosarcoma with mixed embryonal and alveolar features|mixed type rhabdomyosarcoma|mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma|mixed type alveolar rhabdomyosarcoma MONDO:0000202 obsolete Heimler syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000202 MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 biolink:Disease mondo UMLS:C4310799|OMIM:616910|DOID:0090010|ICD10:D84.8 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene. UMLS:C4310799|DOID:0090010|http://identifiers.org/omim/616910 http://purl.obolibrary.org/obo/MONDO_0014828 ICF syndrome 3|immunodeficiency-centromeric instability-Facial anomalies syndrome 3|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7|ICF3|immunodeficiency-centromeric instability-facial anomalies syndrome type 3|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3; ICF3|immunodeficiency-centromeric instability-Facial anomalies syndrome type 3|CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0014827 autosomal recessive spastic paraplegia type 76 biolink:Disease mondo DOID:0110821|EFO:0009019|OMIM:616907|Orphanet:488594|UMLS:C4310800 Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. UMLS:C4310800|ORPHA:488594|DOID:0110821|http://identifiers.org/omim/616907 http://purl.obolibrary.org/obo/MONDO_0014827 hereditary spastic paraplegia type 76|autosomal recessive complex spastic paraplegia caused by mutation in CAPN1|spastic paraplegia 76, autosomal recessive; SPG76|CAPN1 autosomal recessive complex spastic paraplegia|SPG76|hereditary spastic paraplegia 76|spastic paraplegia 76, autosomal recessive|autosomal recessive spastic paraplegia 76 ordo_disease MONDO:0014826 nucleoside diphosphate-linked moiety X Motif 15 deficiency biolink:Disease mondo OMIM:616903|UMLS:C4225160 UMLS:C4225160|http://identifiers.org/omim/616903 http://purl.obolibrary.org/obo/MONDO_0014826 Nudt15 deficiency|NUDT15D|THPM2|THIOPURINES, poor metabolism OF, 2; THPM2|nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D|nucleoside diphosphate-linked moiety X Motif 15 deficiency|Thiopurines, poor metabolism Of, 2 MONDO:0014825 chromosome 11p13 deletion syndrome, distal biolink:Disease mondo OMIM:616902|UMLS:C4311047 UMLS:C4311047|http://identifiers.org/omim/616902 http://purl.obolibrary.org/obo/MONDO_0014825 HGNC:15807 ZNF335 biolink:OntologyClass mondo http://identifiers.org/hgnc/15807 MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 biolink:Disease mondo ICD10:D84.8|UMLS:C4310798|OMIM:616911|DOID:0090011 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene. UMLS:C4310798|DOID:0090011|http://identifiers.org/omim/616911 http://purl.obolibrary.org/obo/MONDO_0014829 ICF syndrome 4|immunodeficiency-centromeric instability-Facial anomalies syndrome 4|ICF4|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS|immunodeficiency-centromeric instability-facial anomalies syndrome type 4|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4; ICF4|immunodeficiency-centromeric instability-Facial anomalies syndrome type 4|HELLS immunodeficiency-centromeric instability-facial anomalies syndrome HGNC:15808 GZF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15808 MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome biolink:Disease mondo OMIM:616914|Orphanet:300382|UMLS:C4310796|ICD10:E88.1 ORPHA:300382|http://identifiers.org/omim/616914|UMLS:C4310796 http://purl.obolibrary.org/obo/MONDO_0014831 MFLS|Marfanoid-progeroid syndrome|Marfan-progeroid-lipodystrophy syndrome|Marfan lipodystrophy syndrome|Marfan lipodystrophy syndrome; MFLS ordo_disease MONDO:0014830 platelet-type bleeding disorder 20 biolink:Disease mondo OMIM:616913|DOID:0111055|UMLS:C4310797|Orphanet:466806 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene. DOID:0111055|ORPHA:466806|http://identifiers.org/omim/616913|UMLS:C4310797 http://purl.obolibrary.org/obo/MONDO_0014830 inherited bleeding disorder, platelet-type caused by mutation in SLFN14|autosomal dominant thrombocytopenia with platelet secretion defect|bleeding disorder, platelet-type, 20; BDPLT20|BDPLT20|SLFN14 inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type, 20 ordo_disease MONDO:0014835 striatal degeneration, autosomal dominant 2 biolink:Disease mondo OMIM:616922|UMLS:C4310791 Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene. UMLS:C4310791|http://identifiers.org/omim/616922 http://purl.obolibrary.org/obo/MONDO_0014835 striatal Degeneration, autosomal dominant type 2|striatal degeneration, autosomal dominant caused by mutation in PDE10A|striatal degeneration, autosomal dominant 2; ADSD2|striatal Degeneration, autosomal dominant 2|PDE10A striatal degeneration, autosomal dominant|ADSD2 MONDO:0014834 dyskinesia, limb and orofacial, infantile-onset biolink:Disease mondo UMLS:C4310792|OMIM:616921 UMLS:C4310792|http://identifiers.org/omim/616921 http://purl.obolibrary.org/obo/MONDO_0014834 dyskinesia, limb and orofacial, infantile-onset; IOLOD|dyskinesia, limb and orofacial, infantile-onset|IOLOD CHEBI:38418 1,3-thiazoles biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38418 1,3-thiazoles MONDO:0014833 heart and brain malformation syndrome biolink:Disease mondo UMLS:C4310793|OMIM:616920 UMLS:C4310793|http://identifiers.org/omim/616920 http://purl.obolibrary.org/obo/MONDO_0014833 heart and brain malformation syndrome; HBMS|HBMS|HBMS|heart and brain malformation syndrome MONDO:0014832 intellectual disability, autosomal recessive 53 biolink:Disease mondo UMLS:C4310794|Orphanet:488635|OMIM:616917 ORPHA:488635|http://identifiers.org/omim/616917|UMLS:C4310794 http://purl.obolibrary.org/obo/MONDO_0014832 early-onset epilepsy-intellectual disability-brain anomalies syndrome|mental retardation, autosomal recessive type 53|mental retardation, autosomal recessive 53; MRT53|intellectual disability, autosomal recessive type 53|PIGG-CDG|intellectual disability, autosomal recessive 53; MRT53|GPIBD13|congenital disorder of glycosylation due to PIGG deficiency|glycosylphosphatidylinositol biosynthesis defect 13|mental retardation, autosomal recessive 53|intellectual disability, autosomal recessive 53|MRT53 ordo_disease MONDO:0002857 gallbladder sarcoma biolink:Disease mondo UMLS:C1333757|NCIT:C5736|DOID:4058 A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. UMLS:C1333757|DOID:4058|NCIT:C5736 http://purl.obolibrary.org/obo/MONDO_0002857 sarcoma of gall bladder|sarcoma of the gallbladder|gallbladder sarcoma|sarcoma of gallbladder|malignant mesenchymal tumor of gallbladder|gall bladder sarcoma MONDO:0002858 ovary rhabdomyosarcoma biolink:Disease mondo DOID:4059|NCIT:C5236|UMLS:C1335176 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries. DOID:4059|NCIT:C5236|UMLS:C1335176 http://purl.obolibrary.org/obo/MONDO_0002858 rhabdomyosarcoma (disease) of ovary|rhabdomyosarcoma of the ovary|ovarian rhabdomyosarcoma|rhabdomyosarcoma of ovary|ovary rhabdomyosarcoma (disease) MONDO:0002859 breast rhabdomyosarcoma biolink:Disease mondo UMLS:C1332637|NCIT:C5190|DOID:4060 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast. DOID:4060|UMLS:C1332637|NCIT:C5190 http://purl.obolibrary.org/obo/MONDO_0002859 rhabdomyosarcoma of the breast|rhabdomyosarcoma of breast|breast rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of breast|breast rhabdomyosarcoma HGNC:6365 KLK4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6365 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma biolink:Disease mondo UMLS:C0334270|NCIT:C54287|DOID:4003|ICDO:8121/3|ONCOTREE:SNSC A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization. DOID:4003|UMLS:C0334270|NCIT:C54287 http://purl.obolibrary.org/obo/MONDO_0002831 Sinonasal cylindrical cell carcinoma|cylindrical cell carcinoma|Schneiderian carcinoma|Sinonasal Schneiderian carcinoma|sinonasal squamous cell carcinoma|Sinonasal transitional cell carcinoma|Ringertz carcinoma|non-keratinizing sinonasal squamous cell carcinoma MONDO:0002832 endometrial transitional cell carcinoma biolink:Disease mondo DOID:4005|NCIT:C40154|UMLS:C1516864 A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells. DOID:4005|UMLS:C1516864|NCIT:C40154 http://purl.obolibrary.org/obo/MONDO_0002832 endometrial transitional cell carcinoma MONDO:0002833 fallopian tube transitional cell carcinoma biolink:Disease mondo DOID:4008|UMLS:C1517128|NCIT:C40104 A rare transitional cell carcinoma that arises from the fallopian tube. DOID:4008|UMLS:C1517128|NCIT:C40104 http://purl.obolibrary.org/obo/MONDO_0002833 fallopian tube transitional cell carcinoma|fallopian tube transitional cell cancer MONDO:0002834 primary prostate urothelial carcinoma biolink:Disease mondo UMLS:C1514430|NCIT:C39898|DOID:4011 An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra. UMLS:C1514430|DOID:4011|NCIT:C39898 http://purl.obolibrary.org/obo/MONDO_0002834 primary prostate urothelial cancer|prostate transitional cell carcinoma|primary prostate urothelial carcinoma|prostate urothelial carcinoma|prostate gland transitional cell carcinoma|transitional cell carcinoma of prostate|transitional cell carcinoma of the prostate HP:0011873 Abnormal platelet count biolink:PhenotypicFeature mondo UMLS:C0580317|SNOMEDCT_US:165558001 Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. http://purl.obolibrary.org/obo/HP_0011873 MONDO:0002830 obsolete ovary transitional cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002830 ovary transitional cell carcinoma MONDO:0014817 nephrotic syndrome, type 12 biolink:Disease mondo OMIM:616892|UMLS:C4225166 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. http://identifiers.org/omim/616892|UMLS:C4225166 http://purl.obolibrary.org/obo/MONDO_0014817 nephrotic syndrome, type 12|nephrotic syndrome, type 12; NPHS12|NUP93 familial nephrotic syndrome|familial nephrotic syndrome caused by mutation in NUP93|NPHS12 MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome biolink:Disease mondo OMIM:616890|UMLS:C4225167|Orphanet:488232 http://identifiers.org/omim/616890|UMLS:C4225167|ORPHA:488232 http://purl.obolibrary.org/obo/MONDO_0014816 split-foot malformation with mesoaxial polydactyly; SFMMP|split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome|split-foot malformation with mesoaxial polydactyly|SFMMP ordo_malformation_syndrome MONDO:0014815 intellectual disability, autosomal recessive 52 biolink:Disease mondo UMLS:C4225168|OMIM:616887 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene. UMLS:C4225168|http://identifiers.org/omim/616887 http://purl.obolibrary.org/obo/MONDO_0014815 mental retardation, autosomal recessive type 52|autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L|mental retardation, autosomal recessive 52; MRT52|intellectual disability, autosomal recessive type 52|intellectual disability, autosomal recessive 52; MRT52|LMAN2L autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 52|intellectual disability, autosomal recessive 52|MRT52 MONDO:0014814 advanced sleep phase syndrome 3 biolink:Disease mondo OMIM:616882|UMLS:C4225169|DOID:0110013 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene. UMLS:C4225169|DOID:0110013|http://identifiers.org/omim/616882 http://purl.obolibrary.org/obo/MONDO_0014814 familial advanced sleep phase syndrome 3|advanced sleep phase syndrome, familial, 3|FASPS3|advanced sleep phase syndrome caused by mutation in PER3|advanced sleep phase syndrome type 3|PER3 advanced sleep phase syndrome|advanced sleep phase syndrome, familial, 3; FASPS3|advanced sleep phase syndrome, familial, type 3 MONDO:0014819 autosomal dominant Robinow syndrome 3 biolink:Disease mondo DOID:0060767|OMIM:616894|UMLS:C4225164|ICD10:Q87.1 Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene. http://identifiers.org/omim/616894|UMLS:C4225164|DOID:0060767 http://purl.obolibrary.org/obo/MONDO_0014819 Robinow syndrome, autosomal dominant 3; DRS3|Robinow syndrome caused by mutation in DVL3|DVL3 Robinow syndrome|DRS3|Robinow syndrome, autosomal dominant type 3|autosomal dominant Robinow syndrome type 3|Robinow syndrome, autosomal dominant 3 MONDO:0014818 nephrotic syndrome, type 13 biolink:Disease mondo UMLS:C4225165|OMIM:616893 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. http://identifiers.org/omim/616893|UMLS:C4225165 http://purl.obolibrary.org/obo/MONDO_0014818 nephrotic syndrome, type 13|familial nephrotic syndrome caused by mutation in NUP205|nephrotic syndrome, type 13; NPHS13|NPHS13|NUP205 familial nephrotic syndrome UBERON:0011695 embryonic cardiovascular system biolink:AnatomicalEntity mondo A cardiovascular system that is part of a conceptus. http://purl.obolibrary.org/obo/UBERON_0011695 conceptus cardiovascular system|embryonic circulatory system|fetal circulatory system MONDO:0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) biolink:Disease mondo OMIM:616896|UMLS:C4225163|DOID:0080336 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene. DOID:0080336|UMLS:C4225163|http://identifiers.org/omim/616896 http://purl.obolibrary.org/obo/MONDO_0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14|OPA1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)|MTDPS14|mitochondrial DNA depletion syndrome caused by mutation in OPA1 MONDO:0014824 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome biolink:Disease mondo Orphanet:459061|UMLS:C4310801|OMIM:616901 UMLS:C4310801|ORPHA:459061|http://identifiers.org/omim/616901 http://purl.obolibrary.org/obo/MONDO_0014824 Loucks-Innes syndrome|developmental delay-short stature-dysmorphic features-sparse hair syndrome|developmental delay with short stature, dysmorphic features, and sparse hair; DEDSSH|developmental delay with short stature, dysmorphic features, and sparse hair|DEDSSH ordo_malformation_syndrome MONDO:0014823 TBCK-related intellectual disability syndrome biolink:Disease mondo Orphanet:488632|OMIM:616900|UMLS:C4225161 TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. UMLS:C4225161|ORPHA:488632|http://identifiers.org/omim/616900 http://purl.obolibrary.org/obo/MONDO_0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3; IHPRF3|IHPRF3|hypotonia, infantile, with psychomotor retardation and characteristic facies type 3|hypotonia, infantile, with psychomotor retardation and characteristic facies 3 ordo_malformation_syndrome MONDO:0014822 15q14 microdeletion syndrome biolink:Disease mondo OMIM:616898|SCTID:719575008|UMLS:C4225666|UMLS:C4305230|ICD10:Q93.5|Orphanet:261190 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. UMLS:C4305230|SNOMEDCT:719575008|UMLS:C4225666|http://identifiers.org/omim/616898|ORPHA:261190 http://purl.obolibrary.org/obo/MONDO_0014822 chromosome 15q14 deletion syndrome|monosomy 15q14|Del(15)(q14) ordo_malformation_syndrome MONDO:0014821 complex lethal osteochondrodysplasia biolink:Disease mondo ICD10:Q78.8|OMIM:616897|Orphanet:457378|UMLS:C4225162 UMLS:C4225162|ORPHA:457378|http://identifiers.org/omim/616897 http://purl.obolibrary.org/obo/MONDO_0014821 osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type; OCLSBG|OCLSBG|Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type|osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type ordo_malformation_syndrome MONDO:0002828 Bartholin gland transitional cell carcinoma biolink:Disease mondo DOID:3998|UMLS:C1511053|NCIT:C40297 A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells. NCIT:C40297|UMLS:C1511053|DOID:3998 http://purl.obolibrary.org/obo/MONDO_0002828 Bartholin gland transitional cell carcinoma|major vestibular gland transitional cell carcinoma|Bartholin's gland transitional cell carcinoma MONDO:0002829 bartholin gland carcinoma biolink:Disease mondo HP:0030419|UMLS:C0349561|DOID:3999|EFO:1000103|DOID:60003|NCIT:C9055|SCTID:276876007 A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma. SNOMEDCT:276876007|NCIT:C9055|DOID:60003|DOID:3999|UMLS:C0349561 http://purl.obolibrary.org/obo/MONDO_0002829 Bartholin gland carcinoma (disease)|Bartholin's gland carcinoma|Bartholin gland cancer|carcinoma of Bartholin's gland|bartholin gland carcinoma|carcinoma of the Bartholin's gland|Bartholin's gland cancer|carcinoma of major vestibular gland|major vestibular gland carcinoma HGNC:6371 KLKB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6371 MONDO:0002824 extrinsic cardiomyopathy biolink:Disease mondo SCTID:195029002|DOID:3978|ICD9:425.8 A cardiomyopathy that is not due to abnormalities in heart muscle cells. DOID:3978|SNOMEDCT:195029002 http://purl.obolibrary.org/obo/MONDO_0002824 secondary cardiomyopathy MONDO:0002825 obsolete Meige syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002825 MONDO:0002826 obsolete tuberculosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002826 MONDO:0002827 obsolete urinary system cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002827 MONDO:0002842 bacterial gastritis biolink:Disease mondo UMLS:C0948039|NCIT:C27340|SCTID:723096000|DOID:4033 Gastritis resulting from bacteria. DOID:4033|NCIT:C27340|SNOMEDCT:723096000|UMLS:C0948039 http://purl.obolibrary.org/obo/MONDO_0002842 Bacteria caused gastritis (disease)|Bacteria gastritis (disease)|bacterial gastritis MONDO:0002843 fungal gastritis biolink:Disease mondo UMLS:C0948638|SCTID:723097009|NCIT:C27342|DOID:4034 Gastritis resulting from fungi. DOID:4034|NCIT:C27342|SNOMEDCT:723097009|UMLS:C0948638 http://purl.obolibrary.org/obo/MONDO_0002843 Fungi gastritis (disease)|fungal gastritis|Fungi caused gastritis (disease) MONDO:0002844 lymphocytic gastritis biolink:Disease mondo DOID:4035|NCIT:C27051|ICD9:535.40|UMLS:C1283271|SCTID:360375007 UMLS:C1283271|DOID:4035|NCIT:C27051|SNOMEDCT:360375007 http://purl.obolibrary.org/obo/MONDO_0002844 lymphocytic gastritis MONDO:0002845 necrotizing gastritis biolink:Disease mondo UMLS:C0877152|DOID:4037|NCIT:C27329 A variant of phlegmonous gastritis, typically progressing to gastric gangrene. DOID:4037|UMLS:C0877152|NCIT:C27329 http://purl.obolibrary.org/obo/MONDO_0002845 necrotizing gastritis MONDO:0002840 eosinophilic gastritis biolink:Disease mondo SCTID:66329006|COHD:195309|ICD9:535.70|ICD9:535.7|UMLS:C0267154|ICD9:535.40|DOID:4030|NCIT:C27052 An eosinophilic gastroenteritis that is characterized by inflammation of the stomach. DOID:4030|NCIT:C27052|UMLS:C0267154|SNOMEDCT:66329006 http://purl.obolibrary.org/obo/MONDO_0002840 eosinophilic gastritis MONDO:0002841 obsolete eosinophilic gastroenteritis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002841 MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 biolink:Disease mondo GARD:0004947|UMLS:C1849101|OMIM:616866|OMIM:271225|UMLS:C4225177|MESH:C564805 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene. http://identifiers.org/omim/616866|UMLS:C4225177|http://identifiers.org/omim/271225|UMLS:C1849101|MESH:C564805 http://purl.obolibrary.org/obo/MONDO_0014806 spinal muscular atrophy with congenital bone fractures type 1|spinal muscular atrophy with congenital bone fractures 1; SMABF1|SMABF1|spinal muscular atrophy type 1 with congenital bone fractures|spinal muscular atrophy, type I, with congenital bone fractures|spinal muscular atrophy with congenital bone fractures 1|SMA1 with congenital bone fractures|TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4 GO:0097060 synaptic membrane biolink:OntologyClass mondo A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. http://purl.obolibrary.org/obo/GO_0097060 MONDO:0014805 16p13.2 microdeletion syndrome biolink:Disease mondo Orphanet:500055|UMLS:C4225667|OMIM:616863 http://identifiers.org/omim/616863|ORPHA:500055|UMLS:C4225667 http://purl.obolibrary.org/obo/MONDO_0014805 Del(16)(p13.2)|chromosome 16P13.2 deletion syndrome|chromosome 16p13.2 deletion syndrome|monosomy 16p13.2 ordo_malformation_syndrome MONDO:0014804 sideroblastic anemia 3 biolink:Disease mondo SCTID:720465002|OMIM:616860|DOID:0080343|Orphanet:255132|ICD10:D64.0 http://identifiers.org/omim/616860|ORPHA:255132|DOID:0080343|SNOMEDCT:720465002 http://purl.obolibrary.org/obo/MONDO_0014804 GLRX5-related sideroblastic anemia|anemia, sideroblastic, 3, pyridoxine-refractory; SIDBA3|adult-onset autosomal recessive sideroblastic anemia|SIDBA3|anemia, sideroblastic, 3, pyridoxine-refractory ordo_disease CL:1001319 bladder cell biolink:Cell mondo KUPO:0001120 http://purl.obolibrary.org/obo/CL_1001319 MONDO:0014803 spasticity-ataxia-gait anomalies syndrome biolink:Disease mondo OMIM:616859|Orphanet:401866|ICD10:E88.8|UMLS:C4225178 http://identifiers.org/omim/616859|ORPHA:401866|UMLS:C4225178 http://purl.obolibrary.org/obo/MONDO_0014803 SPAHGC|childhood-onset spasticity with variant non-ketotic hyperglycinemia|spasticity, childhood-onset, with hyperglycinemia|spasticity, childhood-onset, with hyperglycinemia; SPAHGC|childhood-onset spasticity with hyperglycinemia ordo_disease MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome biolink:Disease mondo Orphanet:488647|OMIM:616871 Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene. http://identifiers.org/omim/616871|ORPHA:488647 http://purl.obolibrary.org/obo/MONDO_0014809 DDX41 hereditary neoplastic syndrome|MPLPF|susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms|hereditary neoplastic syndrome caused by mutation in DDX41|myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to; MPLPF|myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to ordo_disease MONDO:0014808 congenital secretory sodium diarrhea 8 biolink:Disease mondo OMIM:616868|DOID:0060777|UMLS:CN515063|ICD10:P78.3 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene. DOID:0060777|http://identifiers.org/omim/616868|UMLS:CN515063 http://purl.obolibrary.org/obo/MONDO_0014808 diarrhea 8, secretory sodium, congenital|secretory diarrhea caused by mutation in SLC9A3|DIAR8|diarrhea 8, secretory sodium, congenital; DIAR8|congenital secretory sodium diarrhea type 8|diarrhea, congenital sodium|SLC9A3 secretory diarrhea MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 biolink:Disease mondo OMIM:616867|UMLS:C4225176 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene. http://identifiers.org/omim/616867|UMLS:C4225176 http://purl.obolibrary.org/obo/MONDO_0014807 spinal muscular atrophy with congenital bone fractures type 2|spinal muscular atrophy with congenital bone fractures 2; SMABF2|SMABF2|spinal muscular atrophy with congenital bone fractures 2|ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1 UBERON:0011679 proximal tarsal bone biolink:AnatomicalEntity mondo A tarsal bone that connected_to a hindlimb zeugopod skeleton. http://purl.obolibrary.org/obo/UBERON_0011679 UBERON:0011677 trunk vertebra biolink:AnatomicalEntity mondo A vertebra in the trunk region. For tetrapods, includes lumbar and thoracic vertebrae. Excludes caudal/coccygeal vertebra, which are located posteriorly. In tetrapods this includes thoracic, lumbar and sacral vertebrae, and excludes the cervical vertebrae, which are located anteriorly. http://purl.obolibrary.org/obo/UBERON_0011677 presacral vertebra|thoracolumbar vertebra MONDO:0014813 hypomyelinating leukodystrophy 13 biolink:Disease mondo UMLS:C4225170|DOID:0060795|OMIM:616881 Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene. UMLS:C4225170|DOID:0060795|http://identifiers.org/omim/616881 http://purl.obolibrary.org/obo/MONDO_0014813 HIKESHI leukodystrophy|hikeshi leukodystrophy|hypomyelinating leukodystrophy type 13|HLD13|leukodystrophy, hypomyelinating, 13; HLD13|leukodystrophy caused by mutation in HIKESHI|leukodystrophy, hypomyelinating, 13|leukodystrophy caused by mutation in hikeshi|leukodystrophy, hypomyelinating, type 13 MONDO:0014812 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration biolink:Disease mondo GARD:0013423|OMIM:616878|UMLS:C4225171 UMLS:C4225171|http://identifiers.org/omim/616878 http://purl.obolibrary.org/obo/MONDO_0014812 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, Cardiac arrhythmias, and neurodegeneration|transport and golgi organization protein 2 (TANGO2) deficiency|metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; MECRCN|TANGO2 deficiency|MECRCN MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; biolink:Disease mondo OMIM:616875|UMLS:C4225172 UMLS:C4225172|http://identifiers.org/omim/616875 http://purl.obolibrary.org/obo/MONDO_0014811 cerebellar atrophy, visual impairment, and psychomotor retardation|cerebellar atrophy, visual impairment, and psychomotor retardation; CAVIPMR|CAVIPMR MONDO:0014810 pancytopenia due to IKZF1 mutations biolink:Disease mondo ICD10:D81.8|Orphanet:317473|OMIM:616873|UMLS:C4225173 Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene. ORPHA:317473|UMLS:C4225173|http://identifiers.org/omim/616873 http://purl.obolibrary.org/obo/MONDO_0014810 IKZF1 syndrome with combined immunodeficiency|Cid due to IKAROS deficiency|immunodeficiency, common variable, type 13|syndrome with combined immunodeficiency caused by mutation in IKZF1|combined immunodeficiency due to IKAROS deficiency|immunodeficiency, common variable, 13|immunodeficiency, common variable, 13; CVID13|CVID13 ordo_disease MONDO:0002839 leather-bottle stomach biolink:Disease mondo ICDO:8142/3|MESH:D008039|NCIT:C3190|UMLS:C0023743|DOID:4023 A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas. NCIT:C3190|MESH:D008039|DOID:4023|UMLS:C0023743 http://purl.obolibrary.org/obo/MONDO_0002839 linitis plastica (morphologic abnormality)|linitis plastica HGNC:6383 KNG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6383 MONDO:0002835 obsolete papillary transitional carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002835 OBI:0100026 organism biolink:OntologyClass mondo A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. http://purl.obolibrary.org/obo/OBI_0100026 MONDO:0002836 urethra transitional cell carcinoma biolink:Disease mondo UMLS:C0863015|NCIT:C6166|ONCOTREE:UCU|DOID:4013 A transitional cell carcinoma that arises from the male or female urethra. DOID:4013|NCIT:C6166|UMLS:C0863015 http://purl.obolibrary.org/obo/MONDO_0002836 urethral urothelial carcinoma|UCU|transitional cell carcinoma of the urethra|urethra transitional cell carcinoma|transitional cell carcinoma of urethra|urethral transitional cell carcinoma|urethral urothelial cancer MONDO:0002837 sarcomatoid transitional cell carcinoma biolink:Disease mondo NCIT:C4120|ICDO:8122/3|DOID:4014|UMLS:C0334271 A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. DOID:4014|NCIT:C4120|UMLS:C0334271 http://purl.obolibrary.org/obo/MONDO_0002837 transitional cell carcinoma, sarcomatoid|transitional cell spindle cell carcinoma|transitional spindle cell carcinoma|sarcomatoid transitional cell carcinoma MONDO:0002838 obsolete spindle cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002838 HGNC:6388 KIF11 biolink:OntologyClass mondo http://identifiers.org/hgnc/6388 MONDO:0002897 secondary syphilis biolink:Disease mondo ICD9:091.9|COHD:437787|UMLS:C0343676|NCIT:C128413|MESH:C536773|UMLS:C0149985|SCTID:240557004|ICD9:091.89|DOID:4157 The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage. SNOMEDCT:240557004|UMLS:C0149985|DOID:4157|NCIT:C128413|UMLS:C0343676|MESH:C536773 http://purl.obolibrary.org/obo/MONDO_0002897 secondary syphilis of viscera or bone MONDO:0000234 Rickettsia parkeri spotted fever biolink:Disease mondo DOID:0050051 A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash. DOID:0050051 http://purl.obolibrary.org/obo/MONDO_0000234 maculatum infection MONDO:0002898 skin cancer biolink:Disease mondo COHD:4155297|SCTID:372130007|ICD9:173.9|ICD9:173.8|UMLS:C0007114|GARD:0010421|ICD10:C43.C44|DOID:4159|NCIT:C2920 A malignant neoplasm involving the zone of skin SNOMEDCT:372130007|NCIT:C2920|DOID:4159|UMLS:C0007114 http://purl.obolibrary.org/obo/MONDO_0002898 CA - skin cancer|malignant neoplasm of skin|malignant tumor of skin|skin cancer, Including melanoma|malignant tumor of the skin|skin cancer|skin neoplasm, malignant|cancer of zone of skin|skin cancer, NOS|zone of skin cancer|malignant neoplasm of the skin|malignant skin tumor|melanoma and non-melanoma skin cancer|cancer of skin|malignant skin neoplasm|malignant zone of skin neoplasm|malignant neoplasm of zone of skin MONDO:0000233 Japanese spotted fever biolink:Disease mondo UMLS:C2108396|DOID:0050050 A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities. UMLS:C2108396|DOID:0050050 http://purl.obolibrary.org/obo/MONDO_0000233 Japanese spotted fevers|oriental spotted fever|Japanese spotted fever|Rickettsia japonica spotted fever|fever, Japanese spotted|spotted fever, Japanese|fevers, Japanese spotted MONDO:0000232 Flinders island spotted fever biolink:Disease mondo UMLS:C4505102|DOID:0050047 A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy. UMLS:C4505102|DOID:0050047 http://purl.obolibrary.org/obo/MONDO_0000232 Thai tick typhus|FISF MONDO:0002899 differentiating neuroblastoma biolink:Disease mondo UMLS:C1511934|DOID:4160|NCIT:C42048 A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells. UMLS:C1511934|NCIT:C42048|DOID:4160 http://purl.obolibrary.org/obo/MONDO_0002899 differentiating neuroblastoma NCBITaxon:4734 commelinids organism taxon mondo PMID:26350789|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4734 Commeliniflorae|Commelinidae MONDO:0000231 Far eastern spotted fever biolink:Disease mondo UMLS:C3532354|SCTID:472822008|DOID:0050046 SNOMEDCT:472822008|UMLS:C3532354|DOID:0050046 http://purl.obolibrary.org/obo/MONDO_0000231 Rickettsia heilongjiangensis spotted fever MONDO:0000238 pestis minor biolink:Disease mondo MEDGEN:546803|UMLS:C0275757|ICD9:020.8|SCTID:186287003 A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis. SNOMEDCT:186287003|UMLS:C0275757 http://purl.obolibrary.org/obo/MONDO_0000238 ambulatory plague|larval plague|pestis minor|abortive plague MONDO:0002893 obsolete chondroid chordoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002893 MONDO:0002894 spinal chordoma biolink:Disease mondo DOID:4153|UMLS:C1859101|EFO:1000543|NCIT:C5156 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. UMLS:C1859101|DOID:4153|NCIT:C5156 http://purl.obolibrary.org/obo/MONDO_0002894 spinal column chordoma|chordoma of spine|chordoma of the spinal column|spinal chordoma|chordoma of spinal column|spinal Chordomas MONDO:0000237 erysipeloid biolink:Disease mondo UMLS:C1276801|DOID:0050061|SCTID:400105005|MESH:D004887|ICD10:A26 An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis. UMLS:C1276801|MESH:D004887|SNOMEDCT:400105005|DOID:0050061 http://purl.obolibrary.org/obo/MONDO_0000237 MONDO:0002895 obsolete dentinogenesis imperfecta biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002895 MONDO:0000236 oropharyngeal anthrax biolink:Disease mondo DOID:0050059 A anthrax infection that involves the oropharynx. DOID:0050059 http://purl.obolibrary.org/obo/MONDO_0000236 oropharynx anthrax infection MONDO:0002896 primary syphilis biolink:Disease mondo SCTID:186846005|MESH:C536772|NCIT:C128412|UMLS:C2931317|ICD9:091|DOID:4156|COHD:433410|UMLS:C0153139 The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks. SNOMEDCT:186846005|UMLS:C2931317|UMLS:C0153139|DOID:4156|NCIT:C128412|MESH:C536772 http://purl.obolibrary.org/obo/MONDO_0002896 early symptomatic syphilis|symptomatic early syphilis|early syphilis, symptomatic HGNC:6391 KIF22 biolink:OntologyClass mondo http://identifiers.org/hgnc/6391 MONDO:0000235 obsolete Rocky mountain spotted fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000235 MONDO:0002890 obsolete gastrointestinal adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002890 MONDO:0012218 ADDWOC biolink:Disease mondo UMLS:C2674987|MESH:C567185|OMIM:609222 UMLS:C2674987|http://identifiers.org/omim/609222|MESH:C567185 http://purl.obolibrary.org/obo/MONDO_0012218 Dandy-Walker malformation with occipital cephalocele, autosomal dominant|ADDWOC|Dandy-Walker malformation with occipital cephalocele, autosomal dominant; ADDWOC MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor biolink:Disease mondo DOID:4148 DOID:4148 http://purl.obolibrary.org/obo/MONDO_0002891 MONDO:0002892 skull base chordoma biolink:Disease mondo UMLS:C1335975|DOID:4151|NCIT:C5453 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.. UMLS:C1335975|DOID:4151|NCIT:C5453 http://purl.obolibrary.org/obo/MONDO_0002892 chordoma of the skull base|chordoma of skull base|skull base chordoma MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type biolink:Disease mondo UMLS:C1836584|OMIM:609223|MESH:C563772 MESH:C563772|UMLS:C1836584|http://identifiers.org/omim/609223 http://purl.obolibrary.org/obo/MONDO_0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type MONDO:0000230 Israeli tick typhus biolink:Disease mondo DOID:0050043 An infectious disease caused by infection with rickettsia conorii subsp. israelensis. DOID:0050043 http://purl.obolibrary.org/obo/MONDO_0000230 Israeli spotted fever UBERON:0035642 laryngeal nerve biolink:AnatomicalEntity mondo Any nerve that innervates the larynx. http://purl.obolibrary.org/obo/UBERON_0035642 MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome biolink:Disease mondo OMIM:617051|UMLS:C4310745|Orphanet:488627 UMLS:C4310745|http://identifiers.org/omim/617051|ORPHA:488627 http://purl.obolibrary.org/obo/MONDO_0014886 mental retardation, autosomal recessive 55; MRT55|intellectual disability, autosomal recessive 55|mental retardation, autosomal recessive 55|intellectual disability, autosomal recessive type 55|MRT55|intellectual disability, autosomal recessive 55; MRT55|mental retardation, autosomal recessive type 55 ordo_malformation_syndrome MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate biolink:Disease mondo MESH:C563765|UMLS:C1836521|OMIM:609250 UMLS:C1836521|MESH:C563765|http://identifiers.org/omim/609250 http://purl.obolibrary.org/obo/MONDO_0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate|Marie Unna-like scalp hypotrichosis MONDO:0014885 Hermansky-Pudlak syndrome 10 biolink:Disease mondo UMLS:C4310746|OMIM:617050 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene. UMLS:C4310746|http://identifiers.org/omim/617050 http://purl.obolibrary.org/obo/MONDO_0014885 HPS10|AP3D1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in AP3D1|Hermansky-Pudlak syndrome 10; HPS10|Hermansky-Pudlak syndrome 10|Hermansky-Pudlak syndrome type 10 MONDO:0012224 FEB6 biolink:Disease mondo UMLS:C1836518|OMIM:609253|MESH:C563764 MESH:C563764|UMLS:C1836518|http://identifiers.org/omim/609253 http://purl.obolibrary.org/obo/MONDO_0012224 FEB6|febrile seizures, familial, 6|febrile seizures, familial, 6; FEB6|convulsions, familial febrile, 6 MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 biolink:Disease mondo UMLS:C4310747|UMLS:CN776839|Orphanet:480476|DOID:0070225|OMIM:617049 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene. UMLS:CN776839|DOID:0070225|UMLS:C4310747|ORPHA:480476|http://identifiers.org/omim/617049 http://purl.obolibrary.org/obo/MONDO_0014884 NR1H4 deficiency|cholestasis, progressive familial intrahepatic, 5|NR1H4 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 5|progressive familial intrahepatic cholestasis caused by mutation in NR1H4|cholestasis, progressive familial intrahepatic, 5; PFIC5|PFIC5 ordo_clinical_subtype MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 biolink:Disease mondo GARD:0003903|GARD:0000116|ICD10:E77.1|Orphanet:79279|OMIM:609241 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. http://identifiers.org/omim/609241|ORPHA:79279 http://purl.obolibrary.org/obo/MONDO_0012221 Schindler disease type I|Schindler disease, type I|Schindler disease, type 3|NAGA deficiency type 1|NAGA deficiency, type 3|NAGA deficiency, type 1|Schindler disease, type 1|Schindler disease type 1|Alpha-N-acetylgalactosaminidase deficiency, type 3|neuroaxonal dystrophy, Schindler type|N-acetyl-alpha-D-galactosaminidase deficiency type III|Alpha-N-acetylgalactosaminidase deficiency, type 1|alpha-N-acetylgalactosaminidase deficiency, type 1 gard_rare|ordo_clinical_subtype MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 biolink:Disease mondo GARD:0009161|ICD10:E77.1|OMIM:609242|Orphanet:79280|UMLS:C1836522 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. UMLS:C1836522|http://identifiers.org/omim/609242|ORPHA:79280 http://purl.obolibrary.org/obo/MONDO_0012222 Alpha-N-acetylgalactosaminidase deficiency, adult-onset|Kanzaki disease|adult-onset Alpha-N-acetylgalactosaminidase deficiency|Schindler disease, type 2|Naga deficiency, type 2|NAGA deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency adult onset|KANZAKI disease|Alpha-N-acetylgalactosaminidase deficiency, type 2|Schindler disease type 2 ordo_clinical_subtype MONDO:0014883 hypertrophic cardiomyopathy 26 biolink:Disease mondo DOID:0110327|OMIM:617047|UMLS:C4310749 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene. UMLS:C4310749|http://identifiers.org/omim/617047|DOID:0110327 http://purl.obolibrary.org/obo/MONDO_0014883 cardiomyopathy, familial restrictive, 5|cardiomyopathy, familial hypertrophic, 26|FLNC hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 26; CMH26|CMH26|cardiomyopathy familial hypertrophic 26|hypertrophic cardiomyopathy caused by mutation in FLNC|cardiomyopathy, familial hypertrophic, type 26|hypertrophic cardiomyopathy type 26 MONDO:0012227 MYP7 biolink:Disease mondo OMIM:609256|UMLS:C1836506|MESH:C563761 UMLS:C1836506|MESH:C563761|http://identifiers.org/omim/609256 http://purl.obolibrary.org/obo/MONDO_0012227 myopia 7|myopia 7; MYP7|MYP7 MONDO:0014889 striatonigral degeneration, childhood-onset biolink:Disease mondo Orphanet:497906|OMIM:617054|UMLS:C4310743 ORPHA:497906|UMLS:C4310743|http://identifiers.org/omim/617054 http://purl.obolibrary.org/obo/MONDO_0014889 SNDC|childhood-onset basal ganglia degeneration syndrome|SNDC|striatonigral degeneration, childhood-onset; SNDC|Lenk-Ploski syndrome|striatonigral Degeneration, childhood-onset ordo_disease UBERON:0035639 ocular adnexa biolink:AnatomicalEntity mondo The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva http://purl.obolibrary.org/obo/UBERON_0035639 appendages of the eye|accessory parts of orbital region|structurae oculi accessoriae|set of accessory visual structures|adnexa oculi|accessory visual structures set|appendage of eye|accessory visual structures|eye adnexa|adnexal parts of orbital region MONDO:0012228 MYP8 biolink:Disease mondo OMIM:609257|UMLS:C1836505|MESH:C563760 UMLS:C1836505|MESH:C563760|http://identifiers.org/omim/609257 http://purl.obolibrary.org/obo/MONDO_0012228 MYP8|myopia 8|myopia 8; MYP8 MONDO:0012225 Senior-Loken syndrome 5 biolink:Disease mondo UMLS:C1836517|OMIM:609254|MESH:C563763 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. UMLS:C1836517|MESH:C563763|http://identifiers.org/omim/609254 http://purl.obolibrary.org/obo/MONDO_0012225 Senior-Loken syndrome 5|IQCB1 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in IQCB1|Senior-Loken syndrome type 5|SENIOR-Loken syndrome 5; SLSN5|SLSN5 MONDO:0014888 MIRAGE syndrome biolink:Disease mondo OMIM:617053|GARD:0013108|UMLS:C4284088|Orphanet:494433|NCIT:C147530 An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy. NCIT:C147530|UMLS:C4284088|ORPHA:494433|http://identifiers.org/omim/617053 http://purl.obolibrary.org/obo/MONDO_0014888 mirage|mirage syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome MONDO:0014887 bone marrow failure syndrome 3 biolink:Disease mondo UMLS:C4310744|OMIM:617052 Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene. UMLS:C4310744|http://identifiers.org/omim/617052 http://purl.obolibrary.org/obo/MONDO_0014887 bone marrow failure syndrome type 3|bone marrow failure syndrome 3|bone marrow failure syndrome caused by mutation in DNAJC21|BMFS3|DNAJC21 bone marrow failure syndrome MONDO:0012226 FEB5 biolink:Disease mondo OMIM:609255|UMLS:C1836507|MESH:C563762 MESH:C563762|UMLS:C1836507|http://identifiers.org/omim/609255 http://purl.obolibrary.org/obo/MONDO_0012226 febrile seizures, familial, 5; FEB5|convulsions, familial febrile, 5|FEB5|febrile seizures, familial, 5 MONDO:0000229 Indian tick typhus biolink:Disease mondo Orphanet:101335|DOID:0050042 An infectious disease caused by infection with rickettsia conorii subsp. coronorii. ORPHA:101335|DOID:0050042 http://purl.obolibrary.org/obo/MONDO_0000229 MONDO:0000228 obsolete Astrakhan spotted fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000228 MONDO:0014882 hereditary spastic paraplegia 77 biolink:Disease mondo OMIM:617046|Orphanet:466722|UMLS:C4310750|ICD10:G11.4|DOID:0110822 Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. UMLS:C4310750|ORPHA:466722|http://identifiers.org/omim/617046|DOID:0110822 http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia type 77|autosomal recessive spastic paraplegia 77|spastic paraplegia 77, autosomal recessive|autosomal recessive spastic paraplegia type 77|SPG77|spastic paraplegia 77, autosomal recessive; SPG77|FARS2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in FARS2 ordo_disease MONDO:0012220 Griscelli syndrome type 3 biolink:Disease mondo MESH:C537303|OMIM:609227|Orphanet:79478|DOID:0060834|ICD10:E70.3|UMLS:C1836573|GARD:0009715 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes. UMLS:C1836573|DOID:0060834|http://identifiers.org/omim/609227|MESH:C537303|ORPHA:79478 http://purl.obolibrary.org/obo/MONDO_0012220 Griscelli-PruniC)ras syndrome type 3|Griscelli syndrome, type 3|Griscelli-Pruni��ras syndrome type 3|Griscelli-Pruniéras syndrome type 3|Griscelli syndrome, type 3; GS3|GS3|Griscelli disease type 3|hypomelanosis with no immunologic or neurologic manifestations gard_rare|ordo_clinical_subtype MONDO:0014881 transketolase deficiency biolink:Disease mondo Orphanet:488618|UMLS:C4310751|OMIM:617044 UMLS:C4310751|http://identifiers.org/omim/617044|ORPHA:488618 http://purl.obolibrary.org/obo/MONDO_0014881 TKT deficiency|short stature-developmental delay-congenital heart defect syndrome|SDDHD|short stature, developmental delay, and congenital heart defects|short stature, developmental delay, and congenital heart defects; SDDHD ordo_malformation_syndrome MONDO:0014880 Duane retraction syndrome 3 with or without deafness biolink:Disease mondo OMIM:617041|UMLS:C4310752|GARD:0010691 Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion. UMLS:C4310752|http://identifiers.org/omim/617041 http://purl.obolibrary.org/obo/MONDO_0014880 Duane retraction syndrome caused by mutation in MAFB|Duane retraction syndrome 3|Duane syndrome type 3|DURS3|MAFB Duane retraction syndrome|Duane retraction syndrome 3 with or without deafness|Duane retraction syndrome 3 with or without deafness; DURS3 gard_rare MONDO:0000245 tinea imbricata biolink:Disease mondo UMLS:C0040255|ICD10:B35.5|DOID:0050116|SCTID:240699006 A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. SNOMEDCT:240699006|DOID:0050116|UMLS:C0040255 http://purl.obolibrary.org/obo/MONDO_0000245 MONDO:0000244 endothrix infectious disease biolink:Disease mondo DOID:0050105 A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell. DOID:0050105 http://purl.obolibrary.org/obo/MONDO_0000244 MONDO:0000243 ectothrix infectious disease biolink:Disease mondo DOID:0050097 A dermatophyte infection of the hair that infects the hair surface. DOID:0050097 http://purl.obolibrary.org/obo/MONDO_0000243 MONDO:0000242 tinea barbae biolink:Disease mondo DOID:0050096|UMLS:C2349994|SCTID:399329002 A dermatophytosis that involves the beard. UMLS:C2349994|DOID:0050096|SNOMEDCT:399329002 http://purl.obolibrary.org/obo/MONDO_0000242 dermatophytosis of beard|beard dermatophytosis|dermatophytosis of beard MONDO:0000249 secretory diarrhea biolink:Disease mondo SCTID:15699003|UMLS:C0267557|DOID:0050129|HP:0005208 Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. SNOMEDCT:15699003|UMLS:C0267557|DOID:0050129 http://purl.obolibrary.org/obo/MONDO_0000249 MONDO:0000248 dengue shock syndrome biolink:Disease mondo MESH:D019595|UMLS:C0376300|SCTID:409671005|DOID:0050125 A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. UMLS:C0376300|DOID:0050125|SNOMEDCT:409671005|MESH:D019595 http://purl.obolibrary.org/obo/MONDO_0000248 DSS MONDO:0000247 obsolete hemophagocytic lymphohistiocytosis biolink:Disease mondo A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. http://purl.obolibrary.org/obo/MONDO_0000247 MONDO:0026856 obsolete homosexuality 1 biolink:Disease mondo OMIM:306995 http://identifiers.org/omim/306995 http://purl.obolibrary.org/obo/MONDO_0026856 HOMOSEXUALITY 1; HMS1|Sexual Orientation, Male MONDO:0000246 obsolete la Crosse encephalitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000246 UBERON:0035650 nerve of clitoris biolink:AnatomicalEntity mondo Any nerve that innervates the clitoris. http://purl.obolibrary.org/obo/UBERON_0035650 clitoral nerve|clitoris nerve MONDO:0012209 branchiogenic deafness syndrome biolink:Disease mondo Orphanet:50815|MESH:C563780|ICD10:Q87.0|OMIM:609166|SCTID:717944002|UMLS:C1836673 Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent. MESH:C563780|UMLS:C1836673|SNOMEDCT:717944002|http://identifiers.org/omim/609166|ORPHA:50815 http://purl.obolibrary.org/obo/MONDO_0012209 BRANCHIOGENIC-deafness syndrome|Mégarbané-Loiselet syndrome|MC)garbanC)-Loiselet syndrome ordo_malformation_syndrome MONDO:0012207 umbilicus, familial flat biolink:Disease mondo GARD:0009490|UMLS:C1836682|MESH:C537059|OMIM:609164 UMLS:C1836682|http://identifiers.org/omim/609164|MESH:C537059 http://purl.obolibrary.org/obo/MONDO_0012207 flat umbilicus autosomal dominant|umbilicus, familial flat|flat umbilicus familial|flat umbilicus, autosomal dominant gard_rare UBERON:0035652 fibular nerve biolink:AnatomicalEntity mondo Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches http://purl.obolibrary.org/obo/UBERON_0035652 peroneal nerve MONDO:0012208 congenital reticular ichthyosiform erythroderma biolink:Disease mondo Orphanet:281190|MESH:C563781|OMIM:609165|SCTID:703504006|UMLS:C3665704 ORPHA:281190|SNOMEDCT:703504006|MESH:C563781|http://identifiers.org/omim/609165|UMLS:C3665704 http://purl.obolibrary.org/obo/MONDO_0012208 erythroderma, ichthyosiform, congenital reticular|IWC|erythrokeratoderma, reticular|ichthyosis with confetti|CRIE|Aarau disease|CRIE|erythroderma, ichthyosiform, congenital reticular; CRIE|ichthyosis variegata ordo_disease MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome biolink:Disease mondo Orphanet:528091|OMIM:617021|UMLS:C4310761 http://identifiers.org/omim/617021|ORPHA:528091|UMLS:C4310761 http://purl.obolibrary.org/obo/MONDO_0014869 hydrops, lactic acidosis, and sideroblastic anemia; HLASA|hydrops, lactic acidosis, and sideroblastic anemia|HLASA ordo_disease UBERON:0035651 glans biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035651 MONDO:0000241 Keshan disease biolink:Disease mondo SCTID:46939000|DOID:0050083|GARD:0008761|UMLS:C0268095|ICD9:269.3|MESH:C536166 A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus. UMLS:C0268095|SNOMEDCT:46939000|MESH:C536166|DOID:0050083 http://purl.obolibrary.org/obo/MONDO_0000241 caused by deficiency of selenium in the diet|enlarged heart and poor heart function|congestive cardiomyopathy due to selenium deficiency gard_rare MONDO:0000240 invasive aspergillosis biolink:Disease mondo DOID:0050073|SCTID:721798004|UMLS:C0238013 An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. UMLS:C0238013|SNOMEDCT:721798004|DOID:0050073 http://purl.obolibrary.org/obo/MONDO_0000240 MONDO:0014875 hyperaldosteronism, familial, type IV biolink:Disease mondo OMIM:617027|UMLS:C4310756 UMLS:C4310756|http://identifiers.org/omim/617027 http://purl.obolibrary.org/obo/MONDO_0014875 HALD4|hyperaldosteronism, familial, type IV|hyperaldosteronism, familial, type IV; HALD4|hyperaldosteronism, familial, type 4|FH 4|aldosteronism, primary, and hypertension MONDO:0012212 Loeys-Dietz syndrome 1 biolink:Disease mondo NCIT:C75119|GARD:0009458|Orphanet:97295|UMLS:C2697933|DOID:0070235|OMIM:609192 A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. UMLS:C2697933|DOID:0070235|http://identifiers.org/omim/609192|ORPHA:97295|NCIT:C75119 http://purl.obolibrary.org/obo/MONDO_0012212 Furlong syndrome|aortic aneurysm, familial thoracic 5|LDS1|Loeys-Dietz syndrome caused by mutation in TGFBR1|TGFBR1 Loeys-Dietz syndrome|Loeys-Dietz syndrome 1|Loeys-Dietz syndrome 1; LDS1|Loeys-Dietz aortic aneurysm syndrome|Loeys-Dietz syndrome type 1 MONDO:0012213 hereditary spastic paraplegia 26 biolink:Disease mondo OMIM:609195|SCTID:726607007|UMLS:C1836632|GARD:0009587|MESH:C536862|UMLS:C4511959|ICD10:G11.4|Orphanet:101006|DOID:0110777 A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. DOID:0110777|ORPHA:101006|UMLS:C1836632|UMLS:C4511959|http://identifiers.org/omim/609195|MESH:C536862|SNOMEDCT:726607007 http://purl.obolibrary.org/obo/MONDO_0012213 hereditary spastic paraplegia type 26|autosomal recessive spastic paraplegia 26|SPG26|GM2 synthase deficiency|spastic paraplegia 26, autosomal recessive; SPG26|spastic paraplegia 26, autosomal recessive|autosomal recessive spastic paraplegia type 26|spastic paraplegia 26 ordo_disease MONDO:0014874 pontocerebellar hypoplasia, type 2F biolink:Disease mondo OMIM:617026|UMLS:C4310757 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene. UMLS:C4310757|http://identifiers.org/omim/617026 http://purl.obolibrary.org/obo/MONDO_0014874 pontocerebellar hypoplasia, type 2F|TSEN15 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 2F; PCH2F|PCH2F|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15 MONDO:0014873 nevus comedonicus syndrome biolink:Disease mondo GARD:0013073|NCIT:C3946|SCTID:35962006|UMLS:C0265987|ICD10:Q82.5|Orphanet:64754|OMIM:617025 A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood. ORPHA:64754|NCIT:C3946|http://identifiers.org/omim/617025|UMLS:C0265987|SNOMEDCT:35962006 http://purl.obolibrary.org/obo/MONDO_0014873 NC|acne Nevus|Nevus comedonicus|pilosebaceous nevoid disorder|acneiform Nevus|NEVUS comedonicus; NC|comedo Nevus ordo_disease MONDO:0012210 migraine with aura, susceptibility to, 7 biolink:Disease mondo UMLS:C1836670|OMIM:609179 UMLS:C1836670|http://identifiers.org/omim/609179 http://purl.obolibrary.org/obo/MONDO_0012210 migraine with aura, susceptibility to, type 7|migraine with aura, susceptibility to, 7|Mgr7 predisposition UBERON:0035649 nerve of penis biolink:AnatomicalEntity mondo Any nerve that innervates the penis. http://purl.obolibrary.org/obo/UBERON_0035649 penile nerve|penis nerve MONDO:0014872 congenital stationary night blindness 1H biolink:Disease mondo UMLS:C4310758|DOID:0110866|OMIM:617024 Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene. UMLS:C4310758|http://identifiers.org/omim/617024|DOID:0110866 http://purl.obolibrary.org/obo/MONDO_0014872 GNB3 congenital stationary night blindness|night blindness, congenital stationary, type 1H|congenital stationary night blindness type 1H|night blindness, congenital stationary, type 1H; CSNB1H|congenital stationary night blindness caused by mutation in GNB3|CSNB1H MONDO:0012211 MPDU1-CDG biolink:Disease mondo UMLS:C1836669|ICD10:E77.8|Orphanet:79323|GARD:0009832|SCTID:724096007|NCIT:C126872|MESH:C535744|OMIM:609180 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. UMLS:C1836669|NCIT:C126872|SNOMEDCT:724096007|http://identifiers.org/omim/609180|ORPHA:79323|MESH:C535744 http://purl.obolibrary.org/obo/MONDO_0012211 congenital disorder of glycosylation, type If|congenital disorder of glycosylation type 1f|carbohydrate deficient glycoprotein syndrome type If|CDG1F|CDG-If|MPDU1-CDG (CDG-If)|CDG If|CDG syndrome type If|congenital disorder of glycosylation type If|CDGIf|carbohydrate-deficient glycoprotein syndrome type 1F|CDG 1F|congenital disorder of glycosylation, type If; CDG1F ordo_disease UBERON:0035648 nerve innervating pinna biolink:AnatomicalEntity mondo Any nerve that innervates the pinna. http://purl.obolibrary.org/obo/UBERON_0035648 auricular nerve MONDO:0014879 obsolete patent ductus arteriosus 3 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0014879 MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome biolink:Disease mondo ICD10:Q15.8|Orphanet:397618|MESH:C563774|OMIM:609218 ORPHA:397618|MESH:C563774|http://identifiers.org/omim/609218 http://purl.obolibrary.org/obo/MONDO_0012216 FVH2|foveal hypoplasia type 2|foveal hypoplasia 2|foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis|FHONDA syndrome|foveal hypoplasia 2; FVH2 ordo_disease MONDO:0014878 patent ductus arteriosus 2 biolink:Disease mondo OMIM:617035|UMLS:C4284595 UMLS:C4284595|http://identifiers.org/omim/617035 http://purl.obolibrary.org/obo/MONDO_0014878 patent ductus arteriosus 2; PDA2|patent ductus arteriosus 2|PDA2|PDA2|patent ductus arteriosus type 2 MONDO:0012217 Bruck syndrome 2 biolink:Disease mondo GARD:0010023|OMIM:609220|UMLS:C1836602 Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene. UMLS:C1836602|http://identifiers.org/omim/609220 http://purl.obolibrary.org/obo/MONDO_0012217 Bruck syndrome caused by mutation in PLOD2|Bruck syndrome 2|BRKS2|Bruck syndrome type 2|Bruck syndrome 2; BRKS2|osteogenesis imperfecta with congenital Joint contractures|PLOD2 Bruck syndrome MONDO:0012214 GCCD3 biolink:Disease mondo OMIM:609197|UMLS:C1836621 UMLS:C1836621|http://identifiers.org/omim/609197 http://purl.obolibrary.org/obo/MONDO_0012214 glucocorticoid deficiency 2, formerly|glucocorticoid deficiency 2|familial glucocorticoid deficiency 3|glucocorticoid deficiency 3|GCCD3|glucocorticoid deficiency 3; GCCD3 MONDO:0014877 myopathy, distal, 5 biolink:Disease mondo UMLS:C4310754|OMIM:617030 Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene. UMLS:C4310754|http://identifiers.org/omim/617030 http://purl.obolibrary.org/obo/MONDO_0014877 myopathy, distal, type 5|myopathy, distal, 5|ADSSL1 distal myopathy|myopathy, distal, 5; MPD5|MPD5|distal myopathy caused by mutation in ADSSL1|MPD5 MONDO:0012215 myofibrillar myopathy 3 biolink:Disease mondo SCTID:765196004|ICD10:G71.8|DOID:0080094|Orphanet:98911|UMLS:C1836607|OMIM:609200|MESH:C563775 Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. MESH:C563775|UMLS:C1836607|http://identifiers.org/omim/609200|DOID:0080094|SNOMEDCT:765196004|ORPHA:98911 http://purl.obolibrary.org/obo/MONDO_0012215 myotilinopathy|myopathy, myofibrillar, 3; MFM3|MFM3|myopathy, myofibrillar, myotilin-related|autosomal dominant distal myopathy caused by mutation in MYOT|myopathy, myofibrillar, type 3|distal myotilinopathy|myopathy, myofibrillar, 3|myofibrillar myopathy type 3|MYOT autosomal dominant distal myopathy ordo_disease NCBITaxon:12080 Human poliovirus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12080 Poliovirus 1|HPV-1|Polio virus 1|Poliovirus type 1|PV1|Human poliovirus type 1|poliovirus type 1 PV1 MONDO:0014876 intellectual disability, autosomal recessive 54 biolink:Disease mondo OMIM:617028|UMLS:C4310755 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene. UMLS:C4310755|http://identifiers.org/omim/617028 http://purl.obolibrary.org/obo/MONDO_0014876 intellectual disability, autosomal recessive 54; MRT54|autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK|intellectual disability, autosomal recessive type 54|mental retardation, autosomal recessive type 54|MRT54|intellectual disability, autosomal recessive 54; MRT54|mental retardation, autosomal recessive 54; MRT54|TNIK autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 54|mental retardation, autosomal recessive 54 NCBITaxon:12083 Human poliovirus 2 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12083 Poliovirus 2|HPV-2|Poliovirus type 2|Human Poliovirus type 2 MONDO:0000239 adiaspiromycosis biolink:Disease mondo MEDGEN:537148|UMLS:C0259737|DOID:0050072|ICD9:117.9|SCTID:23892008 Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens). UMLS:C0259737|SNOMEDCT:23892008|DOID:0050072 http://purl.obolibrary.org/obo/MONDO_0000239 adiaspirosis|adiaspiromycosis|haplosporangiosis|pulmonary adiaspiromycosis MONDO:0014871 retinitis pigmentosa 75 biolink:Disease mondo UMLS:C4310759|ICD10:H35.5|DOID:0110361|OMIM:617023 Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene. UMLS:C4310759|http://identifiers.org/omim/617023|DOID:0110361 http://purl.obolibrary.org/obo/MONDO_0014871 retinitis pigmentosa 75; RP75|RP75|retinitis pigmentosa type 75|retinitis pigmentosa caused by mutation in AGBL5|retinitis pigmentosa 75|AGBL5 retinitis pigmentosa NCBITaxon:12086 Human poliovirus 3 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12086 Poliovirus 3|Poliovirus type 3|HPV-3|Polio virus 3|Human poliovirus type 3 MONDO:0014870 NEK9-related lethal skeletal dysplasia biolink:Disease mondo ICD10:Q77.2|UMLS:C4310760|Orphanet:464366|OMIM:617022 NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated. UMLS:C4310760|ORPHA:464366|http://identifiers.org/omim/617022 http://purl.obolibrary.org/obo/MONDO_0014870 lethal congenital contracture syndrome 10|lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome|lethal congenital contracture syndrome type 10|lethal congenital contracture syndrome 10; LCCS10|LCCS10 ordo_malformation_syndrome NCBITaxon:12089 Coxsackievirus A24 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12089 Coxsackievirus A-24|CV-A24|Human coxsackievirus A24|Human enterovirus CVA24 MONDO:0000212 hypercalcemia, infantile biolink:Disease mondo SCTID:276645004|OMIMPS:143880|DC:0000724|MESH:C562999 A hypercalcemia disease that occurs between 28 days to one year of life.. MESH:C562999|SNOMEDCT:276645004 http://purl.obolibrary.org/obo/MONDO_0000212 infantile hypercalcemia|infantile hypercalcemia disease|hypercalcemia disease of infancy|infantile onset hypercalcemia disease MONDO:0002875 parasitic ectoparasitic infectious disease biolink:Disease mondo DOID:4110|UMLS:C0013578|MESH:D004478 Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods. MESH:D004478|UMLS:C0013578|DOID:4110 http://purl.obolibrary.org/obo/MONDO_0002875 Infestations, ectoparasitic|ectoparasitic infestation|ectoparasitism|infestation, ectoparasitic NCBITaxon:12058 Picornaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12058 Picornavirus MONDO:0002876 cervical adenosarcoma biolink:Disease mondo NCIT:C40229|ICD10:C53.8|DOID:4111|Orphanet:213792|SCTID:764847000|ICD10:C53.0|ICD10:C53.1|UMLS:C1516426|UMLS:CN201069 A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements. SNOMEDCT:764847000|UMLS:C1516426|NCIT:C40229|UMLS:CN201069|DOID:4111|ORPHA:213792 http://purl.obolibrary.org/obo/MONDO_0002876 cervical Mullerian adenosarcoma|adenosarcoma of uterine cervix|cervical Müllerian adenosarcoma|cervical adenosarcoma|uterine cervix adenosarcoma|cervical Muellerian adenosarcoma|adenosarcoma of the cervix uteri ordo_disease MONDO:0000211 striatal degeneration, autosomal dominant biolink:Disease mondo UMLS:C1836694|Orphanet:228169|DC:0000722|MESH:C563783|OMIMPS:609161 An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. MESH:C563783|UMLS:C1836694|ORPHA:228169 http://purl.obolibrary.org/obo/MONDO_0000211 ADSD|autosomal dominant striatal neurodegeneration MONDO:0002877 cervical carcinosarcoma biolink:Disease mondo UMLS:CN201068|Orphanet:213787|NCIT:C36097|UMLS:C1516420|DOID:4112|ICD10:C53|UMLS:C1332917|SCTID:764951002 A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma. SNOMEDCT:764951002|UMLS:C1516420|NCIT:C36097|UMLS:CN201068|DOID:4112|ORPHA:213787|UMLS:C1332917 http://purl.obolibrary.org/obo/MONDO_0002877 uterine cervix carcinosarcoma|cervical malignant mixed mesodermal (Müllerian) tumor|cervical malignant Müllerian mixed tumor|carcinosarcoma of the cervix uteri|malignant Müllerian mixed tumor of the cervix uteri|cervical carcinosarcoma|cervical malignant mixed mesodermal mullerian tumor|cervical malignant mixed Mullerian tumor|cervical malignant mixed mesodermal (Mullerian) tumor|cervical mixed epithelial and mesenchymal neoplasm|cervical malignant Mullerian mixed tumor|malignant Mullerian mixed tumor of the cervix uteri ordo_disease MONDO:0000210 thiopurine metabolic disease biolink:Disease mondo DC:0000721|OMIMPS:610460 http://purl.obolibrary.org/obo/MONDO_0000210 NCBITaxon:12059 Enterovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12059 Enteroviruses MONDO:0002878 uterine corpus adenosarcoma biolink:Disease mondo Orphanet:213600|DOID:4113|GARD:0009636|ICD10:C54.2|NCIT:C6336|MESH:C538232|UMLS:C1336917|UMLS:CN201046|ONCOTREE:UAS A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection. NCIT:C6336|UMLS:C1336917|MESH:C538232|UMLS:CN201046|DOID:4113|ORPHA:213600 http://purl.obolibrary.org/obo/MONDO_0002878 adenosarcoma of the uterus|uterine adenosarcoma|uterine body adenosarcoma|body of uterus adenosarcoma|uterine corpus Müllerian adenosarcoma|adenosarcoma of body of uterus|adenosarcoma of the body of uterus|uterine corpus adenosarcoma|adenosarcoma of the uterine corpus|uterine corpus Mullerian adenosarcoma|adenosarcoma of the corpus uteri|adenosarcoma of uterine corpus|Mullerian adenosarcoma of the uterus|uterine corpus mullerian adenosarcoma|adenosarcoma of uterine body|adenosarcoma of the uterine body ordo_disease MONDO:0002871 testicular trophoblastic tumor biolink:Disease mondo DOID:4084|NCIT:C39934|UMLS:C1515301 A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas. NCIT:C39934|UMLS:C1515301|DOID:4084 http://purl.obolibrary.org/obo/MONDO_0002871 testicular trophoblastic tumor MONDO:0000216 obsolete congenital bilateral aplasia of vas deferens biolink:Disease mondo DC:0000730 http://purl.obolibrary.org/obo/MONDO_0000216 MONDO:0002872 trophoblastic neoplasm biolink:Disease mondo DOID:4085|NCIT:C3422|MESH:D014328|UMLS:C0041182 A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma. NCIT:C3422|MESH:D014328|DOID:4085|UMLS:C0041182 http://purl.obolibrary.org/obo/MONDO_0002872 tumor of trophoblast|trophoblastic tumor|trophoblastic neoplasm NOS (morphologic abnormality)|trophoblast neoplasm|trophoblastic tumor (qualifier value)|trophoblastic neoplasm (morphologic abnormality)|neoplasm of trophoblast|trophoblast tumor|trophoblastic neoplasm|trophoblastic neoplasms|trophoblast neoplasm (disease) MONDO:0000215 obsolete epilepsy, familial focal, with variable foci biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000215 MONDO:0000214 hypermanganesemia with dystonia biolink:Disease mondo DC:0000727|SCTID:768553002|OMIMPS:613280 SNOMEDCT:768553002 http://purl.obolibrary.org/obo/MONDO_0000214 MONDO:0002873 obsolete testicular germ cell tumor non-seminomatous biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002873 MONDO:0000213 autoimmune disease, multisystem, infantile-onset biolink:Disease mondo OMIMPS:615952|DC:0000725|UMLS:CN238808 UMLS:CN238808 http://purl.obolibrary.org/obo/MONDO_0000213 MONDO:0002874 testicular pure germ cell tumor biolink:Disease mondo DOID:4087|UMLS:C1514608|NCIT:C39915 A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor. NCIT:C39915|UMLS:C1514608|DOID:4087 http://purl.obolibrary.org/obo/MONDO_0002874 testicular Pure germ cell tumor MONDO:0014859 developmental and epileptic encephalopathy, 37 biolink:Disease mondo UMLS:C4310770|OMIM:616981 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene. http://identifiers.org/omim/616981|UMLS:C4310770 http://purl.obolibrary.org/obo/MONDO_0014859 DEE37|early infantile epileptic encephalopathy caused by mutation in FRRS1L|epileptic encephalopathy, early infantile, type 37|epileptic encephalopathy, early infantile, 37; EIEE37|epileptic encephalopathy, early infantile, 37|EIEE37|FRRS1L early infantile epileptic encephalopathy NCBITaxon:169440 Coelopidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_169440 kelp flies|seaweed flies MONDO:0002870 tricuspid valve insufficiency biolink:Disease mondo UMLS:C0040961|NCIT:C50842|MESH:D014262|DOID:4080|SCTID:111287006 The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. UMLS:C0040961|MESH:D014262|SNOMEDCT:111287006|DOID:4080|NCIT:C50842 http://purl.obolibrary.org/obo/MONDO_0002870 tricuspid insufficiency|insufficiency, tricuspid|tricuspid valve regurgitation|tricuspid incompetence|tricuspid regurgitation MONDO:0014858 intellectual disability, autosomal dominant 43 biolink:Disease mondo UMLS:C4310771|OMIM:616977|GARD:0013179|DOID:0070073|SCTID:765434008 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene. http://identifiers.org/omim/616977|DOID:0070073|SNOMEDCT:765434008|UMLS:C4310771 http://purl.obolibrary.org/obo/MONDO_0014858 mental retardation, autosomal dominant 43|autosomal dominant non-syndromic intellectual disability 43|mental retardation, autosomal dominant type 43|autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2|MRD43|mental retardation, autosomal dominant 43; MRD43|intellectual disability, autosomal dominant type 43|intellectual disability, autosomal dominant 43|autosomal dominant intellectual disability-43|HIVEP2 autosomal dominant non-syndromic intellectual disability|HIVEP2-related intellectual disability|intellectual disability, autosomal dominant 43; MRD43|autosomal dominant intellectual disability 43|autosomal dominant mental retardation 43 UBERON:0035662 parotid vein biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035662 parotid branch of facial vein|anterior parotid vein MONDO:0014864 hypermanganesemia with dystonia 2 biolink:Disease mondo SCTID:768554008|UMLS:C4310765|Orphanet:521406|OMIM:617013 Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene. ORPHA:521406|UMLS:C4310765|SNOMEDCT:768554008|http://identifiers.org/omim/617013 http://purl.obolibrary.org/obo/MONDO_0014864 SLC39A14 hypermanganesemia with dystonia|hypermanganesemia with dystonia 2; HMNDYT2|hypermanganesemia with dystonia type 2|hypermanganesemia with dystonia caused by mutation in SLC39A14|hypermanganesemia with dystonia 2|HMNDYT2 ordo_disease MONDO:0012201 obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012201 MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation biolink:Disease mondo OMIM:617011|UMLS:C4310766 UMLS:C4310766|http://identifiers.org/omim/617011 http://purl.obolibrary.org/obo/MONDO_0014863 MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation MONDO:0012202 malaria, mild, susceptibility to biolink:Disease mondo OMIM:609148 http://identifiers.org/omim/609148 http://purl.obolibrary.org/obo/MONDO_0012202 Mals|malaria, mild, susceptibility to|susceptibility to mild malaria predisposition MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 biolink:Disease mondo UMLS:C4310767|OMIM:617008 Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene. UMLS:C4310767|http://identifiers.org/omim/617008 http://purl.obolibrary.org/obo/MONDO_0014862 spastic quadriplegia caused by mutation in ADD3|CPSQ3|cerebral palsy, spastic quadriplegic, 3; CPSQ3|cerebral palsy, spastic quadriplegic, 3|ADD3 spastic quadriplegia|cerebral palsy, spastic quadriplegic, type 3 MONDO:0014861 autoimmune disease, multisystem, infantile-onset, 2 biolink:Disease mondo OMIM:617006|UMLS:C4310768 Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene. UMLS:C4310768|http://identifiers.org/omim/617006 http://purl.obolibrary.org/obo/MONDO_0014861 autoimmune disease, multisystem, infantile-onset, type 2|autoimmune disease, multisystem, infantile-onset, 2|ZAP70 autoimmune disease, multisystem, infantile-onset|autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70|autoimmune disease, multisystem, infantile-onset, 2; ADMIO2|ADMIO2 MONDO:0012200 posterior polymorphous corneal dystrophy 3 biolink:Disease mondo OMIM:609141|ICD10:H18.50|UMLS:C1836724|MESH:C563788|DOID:0110857 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. DOID:0110857|MESH:C563788|UMLS:C1836724|http://identifiers.org/omim/609141 http://purl.obolibrary.org/obo/MONDO_0012200 posterior polymorphous corneal dystrophy type 3|corneal dystrophy, posterior polymorphous, type 3|ZEB1 posterior polymorphous corneal dystrophy|posterior polymorphous corneal dystrophy caused by mutation in ZEB1|PPCD3|corneal dystrophy, POSTERIOR polymorphous, 3|corneal dystrophy, POSTERIOR polymorphous, 3; PPCD3|Ppcd3 MONDO:0014868 developmental and epileptic encephalopathy, 38 biolink:Disease mondo OMIM:617020|UMLS:C4310762 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene. http://identifiers.org/omim/617020|UMLS:C4310762 http://purl.obolibrary.org/obo/MONDO_0014868 ARV1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 38|DEE38|EIEE38|epileptic encephalopathy, early infantile, type 38|early infantile epileptic encephalopathy caused by mutation in ARV1|epileptic encephalopathy, early infantile, 38; EIEE38 MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 biolink:Disease mondo OMIM:609161|SCTID:725392005 Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia. SNOMEDCT:725392005|http://identifiers.org/omim/609161 http://purl.obolibrary.org/obo/MONDO_0012205 striatal degeneration, autosomal dominant caused by mutation in PDE8B|striatal degeneration, autosomal dominant|ADSD1|striatal degeneration, autosomal dominant; ADSD|striatal degeneration, autosomal dominant 1; ADSD1|striatal Degeneration, autosomal dominant 1|ADSD|autosomal dominant striatal neurodegeneration|PDE8B striatal degeneration, autosomal dominant ordo_disease MONDO:0014867 spinocerebellar ataxia 43 biolink:Disease mondo OMIM:617018|UMLS:C4310763|Orphanet:497764|EFO:0009060 Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. http://identifiers.org/omim/617018|ORPHA:497764|UMLS:C4310763 http://purl.obolibrary.org/obo/MONDO_0014867 autosomal dominant cerebellar ataxia caused by mutation in MME|spinocerebellar ataxia 43; SCA43|SCA43|spinocerebellar ataxia type 43|MME autosomal dominant cerebellar ataxia|spinocerebellar ataxia 43 MONDO:0012206 Czech dysplasia, metatarsal type biolink:Disease mondo SCTID:720826006|ICD10:Q77.7|GARD:0010220|Orphanet:137678|MESH:C535766|OMIM:609162 Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. SNOMEDCT:720826006|MESH:C535766|UMLS:C1836683|http://identifiers.org/omim/609162|ORPHA:137678 http://purl.obolibrary.org/obo/MONDO_0012206 Czech dysplasia|Czech dysplasia, metatarsal type|Czech dysplasia metatarsal type|pseudorheumatoid dysplasia progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|pseudorheumatoid dysplasia, progressive, with hypoplastic toes ordo_disease|gard_rare MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T biolink:Disease mondo OMIM:617017|ICD10:G60.0|UMLS:C4015635|Orphanet:443950|DOID:0110160 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. DOID:0110160|http://identifiers.org/omim/617017|ORPHA:443950|UMLS:C4015635 http://purl.obolibrary.org/obo/MONDO_0014866 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T|AR-CMT2T|DNAJB2-related Charcot-Marie-Tooth disease type 2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|Charcot-Marie-Tooth disease, axonal, type 2t|Charcot-Marie-Tooth disease, axonal, type 2T; CMT2T|DNAJB2-related CMT2|CMT2T|Charcot-Marie-Tooth neuropathy type 2T|Charcot-Marie-Tooth neuropathy, type 2T ordo_disease MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor biolink:Disease mondo UMLS:C1836706|ICD10:E05.8|Orphanet:424|OMIM:609152|MESH:C563786|GARD:0002858 Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. MESH:C563786|UMLS:C1836706|http://identifiers.org/omim/609152|ORPHA:424 http://purl.obolibrary.org/obo/MONDO_0012203 hyperthyroidism, Nonautoimmune, autosomal dominant|resistance to thyroid stimulating hormone|familial non-immune hyperthyroidism|toxic thyroid hyperplasia, autosomal dominant|Nonautoimmune hyperthyroidism|hyperthyroidism, congenital Nonautoimmune|hyperthyroidism, NONAUTOIMMUNE ordo_disease MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency biolink:Disease mondo ICD10:D70|Orphanet:420702|UMLS:C4310764|OMIM:617014 http://identifiers.org/omim/617014|ORPHA:420702|UMLS:C4310764 http://purl.obolibrary.org/obo/MONDO_0014865 SCN7|neutropenia, Severe congenital, 7, autosomal recessive|neutropenia, severe congenital, 7, autosomal recessive; SCN7 ordo_disease MONDO:0012204 familial pseudohyperkalemia biolink:Disease mondo UMLS:C4273970|Orphanet:90044|UMLS:C1836705|OMIM:609153|SCTID:717254007|ICD10:D58.8|MESH:C563785 An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. SNOMEDCT:717254007|MESH:C563785|UMLS:C1836705|http://identifiers.org/omim/609153|ORPHA:90044|UMLS:C4273970 http://purl.obolibrary.org/obo/MONDO_0012204 cryohydrocytosis, mild|pseudohyperkalemia, familial, 2, due to RED cell leak; PSHK2|pseudohyperkalemia East London|pseudohyperkalemia Chiswick|pseudohyperkalemia Falkirk|pseudohyperkalemia, familial, 2, due to RED cell leak|pseudohyperkalemia Lille|Pshk2 ordo_disease MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures biolink:Disease mondo Orphanet:486811|UMLS:CN238807|OMIMPS:616866|DC:0000720 UMLS:CN238807|ORPHA:486811 http://purl.obolibrary.org/obo/MONDO_0000209 SMABF|spinal muscular atrophy with congenital bone fractures ordo_disease MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 biolink:Disease mondo DC:0000719|UMLS:C4014997|OMIM:616033 http://identifiers.org/omim/616033|UMLS:C4014997 http://purl.obolibrary.org/obo/MONDO_0000208 MSSGM|microcephaly, short stature, and impaired glucose metabolism|microcephaly, short stature, and impaired glucose metabolism 1; MSSGM1|microcephaly, short stature, and impaired glucose metabolism 1|microcephaly, short stature, and impaired glucose metabolism; MSSGM|MSSGM1 GO:0036094 small molecule binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a small molecule, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/GO_0036094 MONDO:0000207 obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000207 MONDO:0000206 obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000206 CADASIL|obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma biolink:Disease mondo ICDO:8161/3|NCIT:C4130|DOID:4075|UMLS:C0334286 A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component. DOID:4075|NCIT:C4130|UMLS:C0334286 http://purl.obolibrary.org/obo/MONDO_0002868 bile duct cystadenocarcinoma (morphologic abnormality)|bile duct cystadenocarcinoma|cystadenocarcinoma of the bile duct|cystadenocarcinoma of bile duct|biliary cystadenocarcinoma|bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO:0014860 polycystic liver disease 2 biolink:Disease mondo OMIM:617004|UMLS:C4310769 Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene. UMLS:C4310769|http://identifiers.org/omim/617004 http://purl.obolibrary.org/obo/MONDO_0014860 polycystic liver disease 2; PCLD2|polycystic liver disease 2|polycystic liver disease type 2|PCLD2|polycystic liver disease 2 with or without kidney cysts|polycystic liver disease 2 with or without kidney cysts; PCLD2 MONDO:0002869 heart valve disease biolink:Disease mondo ICD9:424.99|DOID:4079|UMLS:C0018824|SCTID:368009|NCIT:C45525|MESH:D006349 A disease involving the cardial valve. DOID:4079|NCIT:C45525|MESH:D006349|UMLS:C0018824|SNOMEDCT:368009 http://purl.obolibrary.org/obo/MONDO_0002869 disorder of heart valve|valvular heart disorder|valvular heart disease|heart valve disorder|disease of cardial valve|cardial valve disease or disorder|disorder of cardial valve|disorder of cardial valve|cardial valve disease|disease or disorder of cardial valve MONDO:0002886 common bile duct disease biolink:Disease mondo MESH:D003137|DOID:4137|UMLS:C0009440 A disease involving the common bile duct. MESH:D003137|UMLS:C0009440|DOID:4137 http://purl.obolibrary.org/obo/MONDO_0002886 common bile duct disease or disorder|disorder of common bile duct|disease of common bile duct|disease or disorder of common bile duct|disorder of common bile duct|common bile duct disease MONDO:0000223 obsolete chikungunya biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000223 MONDO:0002887 bile duct disease biolink:Disease mondo NCIT:C96716|UMLS:C0005395|SCTID:118926004|MESH:D001649|DOID:4138 A disease involving the bile duct. SNOMEDCT:118926004|UMLS:C0005395|NCIT:C96716|MESH:D001649|DOID:4138 http://purl.obolibrary.org/obo/MONDO_0002887 disease of bile duct|bile duct disease or disorder|bile duct disorder|disorder of bile duct|disorder of bile duct|bile duct disease|disease or disorder of bile duct MONDO:0000222 seminal vesicle acute gonorrhea biolink:Disease mondo SCTID:65049003|DOID:0050004|UMLS:C0153194 Acute form of gonococcal seminal vesiculitis. UMLS:C0153194|DOID:0050004|SNOMEDCT:65049003 http://purl.obolibrary.org/obo/MONDO_0000222 acute gonococcal seminal vesiculitis|gonococcal seminal vesiculitis, acute MONDO:0002888 intraorbital meningioma biolink:Disease mondo UMLS:C1334261|DOID:4141|NCIT:C6778 A meningioma that affects the intraorbital structures. NCIT:C6778|UMLS:C1334261|DOID:4141 http://purl.obolibrary.org/obo/MONDO_0002888 intraorbital meningioma MONDO:0000221 obsolete cerebroretinal microangiopathy with calcifications and cysts biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000221 MONDO:0002889 orbital cancer biolink:Disease mondo ICD9:239.89|DOID:4143|SCTID:127003006|EFO:0007408|ICD9:190.1|NCIT:C3562|ICD10:C69.6 A primary or metastatic malignant neoplasm involving the orbit. NCIT:C3562|SNOMEDCT:127003006|DOID:4143 http://purl.obolibrary.org/obo/MONDO_0002889 malignant orbital tumor|malignant tumor of orbit|malignant orbital neoplasm|cancer of orbit of skull|orbit of skull cancer|malignant neoplasm of orbit|malignant orbit neoplasm|orbit cancer|neoplasm of orbit proper|malignant neoplasm of the orbit|malignant orbit of skull neoplasm|malignant neoplasm of orbit of skull|malignant orbit tumor|orbital tumor|malignant tumor of the orbit MONDO:0000220 obsolete anterior segment dysgenesis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000220 MONDO:0000227 African tick-bite fever biolink:Disease mondo DOID:0050035|UMLS:C1320317|SCTID:415561000 SNOMEDCT:415561000|UMLS:C1320317|DOID:0050035 http://purl.obolibrary.org/obo/MONDO_0000227 Rickettsia africae spotted fever|South African tick-bite fever MONDO:0002882 colon neuroendocrine neoplasm biolink:Disease mondo NCIT:C5697|UMLS:C1333097|Orphanet:100080|DOID:4118 A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). NCIT:C5697|ORPHA:100080|UMLS:C1333097|DOID:4118 http://purl.obolibrary.org/obo/MONDO_0002882 neuroendocrine tumor of the colon|colonic neuroendocrine neoplasm|colon neuroendocrine neoplasm|colon neuroendocrine tumor, well differentiated, low or intermediate grade|colon neuroendocrine tumor|colonic neuroendocrine tumor|colon NET|colon neuroendocrine tumor|neuroendocrine neoplasm of colon|neuroendocrine neoplasm of the colon MONDO:0002883 intestinal neuroendocrine neoplasm biolink:Disease mondo NCIT:C5695|UMLS:C1334231|DOID:4119 A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). NCIT:C5695|UMLS:C1334231|DOID:4119 http://purl.obolibrary.org/obo/MONDO_0002883 neuroendocrine neoplasm of intestine|intestine neuroendocrine tumor|neuroendocrine neoplasm of the intestine|neuroendocrine tumor of intestine|intestinal neuroendocrine neoplasm|intestine neuroendocrine tumor|intestine neuroendocrine neoplasm|intestine NET|intestinal neuroendocrine benign tumor|intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0000226 mineral metabolism disease biolink:Disease mondo ICD9:275.8|ICD10:E83|SCTID:45744005|ICD9:275.9 SNOMEDCT:45744005 http://purl.obolibrary.org/obo/MONDO_0000226 disorder of mineral metabolism|disease of mineral metabolism MONDO:0002884 nail disease biolink:Disease mondo UMLS:C0027339|SCTID:17790008|ICD10:L60|MESH:D009260|ICD9:703.8|ICD10:L60.9|ICD9:703|ICD9:703.9|DOID:4123 A disease involving the nail. UMLS:C0027339|MESH:D009260|DOID:4123|SNOMEDCT:17790008 http://purl.obolibrary.org/obo/MONDO_0002884 disorder of nail|disease or disorder of nail|disease of nail|nail disease|nail disease or disorder|disorder of nail MONDO:0000225 human monocytic ehrlichiosis biolink:Disease mondo ICD9:082.41|SCTID:359747000|UMLS:C1282983|GARD:0000072|DOID:0050026 A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages. UMLS:C1282983|SNOMEDCT:359747000|DOID:0050026 http://purl.obolibrary.org/obo/MONDO_0000225 ehrlichiosis chafeensis|Human ehrlichial infection, human monocytic type|human ehrlichiosis caused by Ehrlichia chaffeensis|HME|human ehrlichiosis due to Ehrlichia chaffeensis gard_rare MONDO:0000224 acquired carbohydrate metabolism disease biolink:Disease mondo DOID:0050013 An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism. DOID:0050013 http://purl.obolibrary.org/obo/MONDO_0000224 carbohydrate metabolism disease MONDO:0002885 erythrasma biolink:Disease mondo SCTID:264207005|DOID:4131|UMLS:C2364003|ICD9:041.85|EFO:1000696|UMLS:C0014752|ICD10:L08.1|MESH:D004894 A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum. UMLS:C2364003|MESH:D004894|SNOMEDCT:264207005|UMLS:C0014752|DOID:4131 http://purl.obolibrary.org/obo/MONDO_0002885 infection due to Corynebacterium minutissimum MONDO:0014849 autosomal recessive nonsyndromic deafness 105 biolink:Disease mondo OMIM:616958|DOID:0110466|UMLS:C4310777|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CDC14A gene. UMLS:C4310777|DOID:0110466|http://identifiers.org/omim/616958 http://purl.obolibrary.org/obo/MONDO_0014849 DFNB105|deafness, autosomal recessive 105|deafness, autosomal recessive type 105|deafness, autosomal recessive 105; DFNB105|autosomal recessive nonsyndromic deafness caused by mutation in CDC14A|autosomal recessive deafness 105|autosomal recessive nonsyndromic deafness type 105|CDC14A autosomal recessive nonsyndromic deafness MONDO:0002880 ovarian adenosarcoma biolink:Disease mondo NCIT:C7317|UMLS:C1335169|DOID:4115 A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases. UMLS:C1335169|DOID:4115|NCIT:C7317 http://purl.obolibrary.org/obo/MONDO_0002880 ovarian adenosarcoma|ovarian Mullerian adenosarcoma|ovarian mullerian adenosarcoma|adenosarcoma of ovary|ovary adenosarcoma|ovarian Müllerian adenosarcoma|ovarian mesodermal adenosarcoma MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder biolink:Disease mondo EFO:0009061|Orphanet:488642|OMIM:616954|UMLS:C4310778 UMLS:C4310778|ORPHA:488642|http://identifiers.org/omim/616954 http://purl.obolibrary.org/obo/MONDO_0014848 you-Hoover-Fong syndrome|YHFS|you-Hoover-Fong syndrome; YHFS ordo_malformation_syndrome MONDO:0002881 vaginal adenosarcoma biolink:Disease mondo UMLS:C1519914|DOID:4117|NCIT:C40277 A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component. UMLS:C1519914|NCIT:C40277|DOID:4117 http://purl.obolibrary.org/obo/MONDO_0002881 vaginal adenosarcoma|adenosarcoma of vagina|vaginal Mullerian adenosarcoma|vagina adenosarcoma|vaginal Müllerian adenosarcoma MONDO:0014847 spermatogenic failure 15 biolink:Disease mondo OMIM:616950|DOID:0070172|UMLS:C4310779 Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene. http://identifiers.org/omim/616950|DOID:0070172|UMLS:C4310779 http://purl.obolibrary.org/obo/MONDO_0014847 SPGF15|spermatogenic failure type 15|spermatogenic failure 15|spermatogenic failure 15; SPGF15|SYCE1 azoospermia|azoospermia caused by mutation in SYCE1 MONDO:0014853 autosomal dominant nonsyndromic deafness 70 biolink:Disease mondo OMIM:616968|ICD10:H90.3|DOID:0110592|UMLS:C4310775 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene. DOID:0110592|http://identifiers.org/omim/616968|UMLS:C4310775 http://purl.obolibrary.org/obo/MONDO_0014853 deafness, autosomal dominant 70; DFNA70|autosomal dominant nonsyndromic deafness type 70|autosomal dominant deafness 70|autosomal dominant nonsyndromic deafness caused by mutation in MCM2|DFNA70|deafness, autosomal dominant type 70|MCM2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 70 MONDO:0014852 obsolete palmoplantar carcinoma, multiple self-healing biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0014852 NCBITaxon:169449 Coelopinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_169449 MONDO:0014851 hypercalcemia, infantile 2 biolink:Disease mondo OMIM:616963|UMLS:CN847585|UMLS:C4310473|UMLS:CN262351|UMLS:CN774236 Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. UMLS:CN774236|http://identifiers.org/omim/616963|UMLS:CN262351|UMLS:C4310473|UMLS:CN847585 http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile, type 2|HCINF2|hypercalcemia, infantile, 2|SLC34A1 autosomal recessive infantile hypercalcemia|autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1 MONDO:0014850 retinitis pigmentosa and erythrocytic microcytosis biolink:Disease mondo UMLS:C4310776|OMIM:616959 http://identifiers.org/omim/616959|UMLS:C4310776 http://purl.obolibrary.org/obo/MONDO_0014850 retinitis pigmentosa and erythrocytic microcytosis; RPEM|RPEM|retinitis pigmentosa and erythrocytic microcytosis|RPEM MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart biolink:Disease mondo OMIM:616975|MONDO:0044630|Orphanet:494344|UMLS:C4310772 ORPHA:494344|http://identifiers.org/omim/616975|UMLS:C4310772 http://purl.obolibrary.org/obo/MONDO_0014857 NEDBEH|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart|rere-related neurodevelopmental syndrome|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH MONDO:0014856 combined oxidative phosphorylation defect type 30 biolink:Disease mondo EFO:0009038|Orphanet:478042|UMLS:C4310773|OMIM:616974 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene. http://identifiers.org/omim/616974|UMLS:C4310773|ORPHA:478042 http://purl.obolibrary.org/obo/MONDO_0014856 combined oxidative phosphorylation deficiency caused by mutation in TRMT10C|combined oxidative phosphorylation deficiency type 30|COXPD30|combined oxidative phosphorylation deficiency 30; COXPD30|combined oxidative phosphorylation deficiency 30|TRMT10C combined oxidative phosphorylation deficiency ordo_disease MONDO:0014855 intellectual disability, autosomal dominant 42 biolink:Disease mondo OMIM:616973|DOID:0070072|UMLS:C4310774 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene. DOID:0070072|http://identifiers.org/omim/616973|UMLS:C4310774 http://purl.obolibrary.org/obo/MONDO_0014855 intellectual disability, autosomal dominant 42|intellectual disability, autosomal dominant type 42|mental retardation, autosomal dominant 42|mental retardation, autosomal dominant type 42|intellectual disability, autosomal dominant 42; MRD42|GNB1 autosomal dominant non-syndromic intellectual disability|MRD42|Gnb1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 42; MRD42|autosomal dominant intellectual disability 42|autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1|autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1|autosomal dominant non-syndromic intellectual disability 42|autosomal dominant mental retardation 42 MONDO:0014854 autosomal dominant nonsyndromic deafness 66 biolink:Disease mondo DOID:0110587|UMLS:C4283893|ICD10:H90.3|OMIM:616969 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene. DOID:0110587|UMLS:C4283893|http://identifiers.org/omim/616969 http://purl.obolibrary.org/obo/MONDO_0014854 CD164 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 66; DFNA66|autosomal dominant deafness 66|deafness, autosomal dominant type 66|DFNA66|deafness, autosomal dominant 66|autosomal dominant nonsyndromic deafness caused by mutation in CD164|autosomal dominant nonsyndromic deafness type 66 MONDO:0000219 obsolete uncombable hair syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000219 MONDO:0000218 preimplantation embryonic lethality biolink:Disease mondo UMLS:CN282827|DC:0000733|OMIMPS:616814 UMLS:CN282827 http://purl.obolibrary.org/obo/MONDO_0000218 MONDO:0000217 obsolete Frontometaphyseal dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000217 MONDO:0002879 uterine body mixed cancer biolink:Disease mondo DOID:4114|UMLS:C1334628|NCIT:C6311 A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma. NCIT:C6311|UMLS:C1334628|DOID:4114 http://purl.obolibrary.org/obo/MONDO_0002879 malignant mixed tumor of corpus uteri|malignant mixed neoplasm of uterine body|malignant mixed neoplasm of the uterine body|malignant body of uterus mixed tumor|malignant corpus uteri mixed tumor|malignant mixed tumor of uterine body|malignant mixed tumor of the uterine body|malignant uterine corpus mixed tumor|malignant uterine body mixed neoplasm|malignant uterine corpus mixed epithelial and mesenchymal neoplasm|malignant mixed neoplasm of body of uterus|malignant mixed neoplasm of corpus uteri|malignant mixed neoplasm of the corpus uteri|malignant mixed neoplasm of the body of uterus|malignant mixed neoplasm of uterine corpus|malignant mixed neoplasm of the uterine corpus|malignant uterine body mixed tumor|malignant mixed tumor of body of uterus|malignant mixed tumor of the corpus uteri|malignant mixed tumor of the body of uterus|malignant corpus uteri mixed neoplasm|malignant body of uterus mixed neoplasm|malignant mixed tumor of uterine corpus|malignant mixed tumor of the uterine corpus NCBITaxon:12066 Coxsackievirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12066 NCBITaxon:36087 Trichuris trichiura organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_36087 human whipworm NCBITaxon:36086 Trichuris organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_36086 HGNC:8927 PHKB biolink:OntologyClass mondo http://identifiers.org/hgnc/8927 GO:0061041 regulation of wound healing biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/GO_0061041 GO:0061045 negative regulation of wound healing biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/GO_0061045 HGNC:8931 PHKG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8931 UBERON:0011628 early premaxilla biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011628 future premaxilla NCBITaxon:169455 Coelopellini organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_169455 NCBITaxon:2129 Ureaplasma organism taxon mondo PMID:11034506|PMID:8782697|GC_ID:4|PMID:1906731|PMID:2223597 http://purl.obolibrary.org/obo/NCBITaxon_2129 NCBITaxon:85004 Bifidobacteriales organism taxon mondo PMID:19244447|GC_ID:11|PMID:27446019 http://purl.obolibrary.org/obo/NCBITaxon_85004 NCBITaxon:85007 Corynebacteriales organism taxon mondo PMID:19244447|GC_ID:11|PMID:30186281|PMID:1736962|PMID:11837321|PMID:31157615 http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales|Corynebacterineae NCBITaxon:85006 Micrococcales organism taxon mondo PMID:20190019|PMID:19244447|GC_ID:11|PMID:30186281|PMID:19542112|PMID:11837321 http://purl.obolibrary.org/obo/NCBITaxon_85006 Micrococcineae GO:0061035 regulation of cartilage development biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. http://purl.obolibrary.org/obo/GO_0061035 GO:0061036 positive regulation of cartilage development biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. http://purl.obolibrary.org/obo/GO_0061036 HGNC:8941 SERPINA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8941 GO:0061037 negative regulation of cartilage development biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. http://purl.obolibrary.org/obo/GO_0061037 HGNC:8943 SERPINI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8943 UBERON:0035606 cartilage of external acoustic meatus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035606 external acoustic meatus cartilage|cartilage of auditory canal|cartilago meatus acustici|cartilage of acoustic meatus UBERON:0035608 dura mater lymph vessel biolink:AnatomicalEntity mondo Any lymph vessel that is located in the dura mater of the brain. http://purl.obolibrary.org/obo/UBERON_0035608 dural lymph vessel|dural lymph vasculature GO:0002757 immune response-activating signal transduction biolink:OntologyClass mondo The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to activation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_0002757 GO:0097006 regulation of plasma lipoprotein particle levels biolink:OntologyClass mondo Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism. http://purl.obolibrary.org/obo/GO_0097006 plasma lipoprotein particle homeostasis HP:0011804 Abnormal muscle physiology biolink:PhenotypicFeature mondo UMLS:C4023182 A functional abnormality of a skeletal muscle. http://purl.obolibrary.org/obo/HP_0011804 Abnormality of muscle physiology|Issue with muscle function HP:0011805 Abnormal skeletal muscle morphology biolink:PhenotypicFeature mondo UMLS:C4023181 A structural abnormality of a skeletal muscle. http://purl.obolibrary.org/obo/HP_0011805 Abnormal muscle morphology|Abnormally shaped muscle|Issue with muscle structure|Abnormality of muscle morphology HGNC:8940 PHYH biolink:OntologyClass mondo http://identifiers.org/hgnc/8940 GO:0002759 regulation of antimicrobial humoral response biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response. http://purl.obolibrary.org/obo/GO_0002759 CHEBI:38497 respiratory-chain inhibitor biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38497 CHEBI:38496 electron-transport chain inhibitor biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38496 GO:0002720 positive regulation of cytokine production involved in immune response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response. http://purl.obolibrary.org/obo/GO_0002720 activation of cytokine production during immune response|up regulation of cytokine production during immune response|positive regulation of cytokine biosynthetic process involved in immune response|up-regulation of cytokine production during immune response|positive regulation of cytokine secretion involved in immune response|upregulation of cytokine production during immune response|stimulation of cytokine production during immune response|positive regulation of cytokine production during immune response NCBITaxon:4753 Pneumocystis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4753 NCBITaxon:4751 Fungi organism taxon mondo PMID:11062127|PMID:12684019|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4751 fungi|fungi|Mycota CHEBI:51446 organic divalent group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_51446 CHEBI:51447 organic univalent group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_51447 GO:0014706 striated muscle tissue development biolink:OntologyClass mondo The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells. http://purl.obolibrary.org/obo/GO_0014706 GO:0061061 muscle structure development biolink:OntologyClass mondo The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms. http://purl.obolibrary.org/obo/GO_0061061 HGNC:8952 SERPINB8 biolink:OntologyClass mondo http://identifiers.org/hgnc/8952 UBERON:0011602 gingiva of lower jaw biolink:AnatomicalEntity mondo A gingiva that is part of a lower jaw region. http://purl.obolibrary.org/obo/UBERON_0011602 lower jaw gum|lower gum|lower jaw gingiva|lower gingiva|gum of lower jaw|mandibular gum|gum of mandible UBERON:0011601 gingiva of upper jaw biolink:AnatomicalEntity mondo A gingiva that is part of a upper jaw region. http://purl.obolibrary.org/obo/UBERON_0011601 maxillary gum|upper gum|upper jaw gingiva|upper gingiva|gum of upper jaw|gum of maxilla NCBITaxon:12090 Enterovirus D70 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12090 Enterovirus type 70|Enterovirus 70|Human enterovirus 70 HGNC:8957 PIGA biolink:OntologyClass mondo http://identifiers.org/hgnc/8957 NCBITaxon:12092 Hepatovirus A organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12092 Hepatitis A virus|HAV NCBITaxon:12091 Hepatovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12091 HGNC:8950 SERPINB6 biolink:OntologyClass mondo http://identifiers.org/hgnc/8950 NCBITaxon:85025 Nocardiaceae organism taxon mondo GC_ID:11|PMID:30186281|PMID:19244447 http://purl.obolibrary.org/obo/NCBITaxon_85025 Williamsiaceae GO:0099643 signal release from synapse biolink:OntologyClass mondo Any signal release from a synapse. http://purl.obolibrary.org/obo/GO_0099643 NCBITaxon:2104 Mycoplasma pneumoniae organism taxon mondo GC_ID:4|PMID:19871393|PMID:4867945|PMID:29556819|PMID:31971499|PMID:31385780 http://purl.obolibrary.org/obo/NCBITaxon_2104 Schizoplasma pneumoniae|Filterable agent of primary atypical pneumonia|Mycoplasmoides pneumoniae|Mycoplasmoides pneumoniae (Somerson et al. 1963) Gupta et al. 2018 ENVO:01001813 construction biolink:OntologyClass mondo A material entity which has been assembled through the intentional, instinctual, or deliberately programmed efforts of an organism or machine. http://purl.obolibrary.org/obo/ENVO_01001813 NCBITaxon:169495 This organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_169495 ENVO:01001814 organic object biolink:OntologyClass mondo An object which is formed as a result of one or more biological processes and is composed primarily of organic material. http://purl.obolibrary.org/obo/ENVO_01001814 HGNC:8966 PIGL biolink:OntologyClass mondo http://identifiers.org/hgnc/8966 HGNC:8967 PIGN biolink:OntologyClass mondo http://identifiers.org/hgnc/8967 HGNC:6307 KDR biolink:OntologyClass mondo http://identifiers.org/hgnc/6307 MONDO:0002810 pancreatic serous cystic neoplasm biolink:Disease mondo UMLS:C1518875|NCIT:C41248|DOID:3919 A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma. NCIT:C41248|DOID:3919|UMLS:C1518875 http://purl.obolibrary.org/obo/MONDO_0002810 pancreatic serous neoplasm|pancreatic serous cystic neoplasm GO:0099699 integral component of synaptic membrane biolink:OntologyClass mondo The component of the synaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/GO_0099699 MONDO:0002811 main bronchus cancer biolink:Disease mondo DOID:3924|SCTID:372065009|ICD9:162.2|COHD:4157333|ICD10:C34.0|UMLS:C0153490 A malignant neoplasm involving the main bronchus. UMLS:C0153490|SNOMEDCT:372065009|DOID:3924 http://purl.obolibrary.org/obo/MONDO_0002811 malignant main bronchus neoplasm|malignant neoplasm of main bronchus|Ca main bronchus|main bronchus cancer|cancer of main bronchus GO:0002700 regulation of production of molecular mediator of immune response biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response. http://purl.obolibrary.org/obo/GO_0002700 MONDO:0002812 infectious otitis interna biolink:Disease mondo NCIT:C27339|UMLS:C1168225 Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology. NCIT:C27339|UMLS:C1168225 http://purl.obolibrary.org/obo/MONDO_0002812 infectious otitis interna|inner Ear infection|internal Ear infection|infectious labyrinthitis|inner ear infection GO:0002701 negative regulation of production of molecular mediator of immune response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response. http://purl.obolibrary.org/obo/GO_0002701 down-regulation of production of molecular mediator of immune response|down regulation of production of molecular mediator of immune response|inhibition of production of molecular mediator of immune response|downregulation of production of molecular mediator of immune response CHEBI:51422 organodiyl group biolink:ChemicalSubstance mondo Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s). http://purl.obolibrary.org/obo/CHEBI_51422 organodiyl groups NCBITaxon:2157 Archaea organism taxon mondo PMID:11542149|PMID:2112744|PMID:10843050|PMID:10939673|PMID:10939651|PMID:11211268|PMID:11321113|PMID:10490293|PMID:25527841|PMID:10425797|PMID:270744|PMID:10425796|PMID:11411719|PMID:8123559|PMID:10425795|PMID:11542064|GC_ID:11|PMID:11321083|PMID:11540071|PMID:9336922|PMID:11760965|PMID:9103655|PMID:10939677|PMID:8590690|PMID:11541975|PMID:12054223 http://purl.obolibrary.org/obo/NCBITaxon_2157 Procaryotae|Archaebacteria|Monera|prokaryote|Metabacteria|Prokaryotae|Prokaryota|Mendosicutes|archaea|prokaryotes HGNC:6309 KERA biolink:OntologyClass mondo http://identifiers.org/hgnc/6309 UBERON:0011676 subdivision of organism along main body axis biolink:AnatomicalEntity mondo A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. http://purl.obolibrary.org/obo/UBERON_0011676 axial subdivision of organism|body segment|main body segment HGNC:8975 PIK3CA biolink:OntologyClass mondo http://identifiers.org/hgnc/8975 HGNC:8977 PIK3CD biolink:OntologyClass mondo http://identifiers.org/hgnc/8977 HGNC:6315 KHK biolink:OntologyClass mondo http://identifiers.org/hgnc/6315 MONDO:0014802 Cowden syndrome 7 biolink:Disease mondo OMIM:616858|UMLS:C4225179 Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene. http://identifiers.org/omim/616858|UMLS:C4225179 http://purl.obolibrary.org/obo/MONDO_0014802 CWS7|Cowden syndrome 7|Cowden syndrome type 7|SEC23B Cowden disease|Cowden disease caused by mutation in SEC23B|Cowden syndrome 7; CWS7 HGNC:8979 PIK3R1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8979 MONDO:0014801 even-plus syndrome biolink:Disease mondo UMLS:C4225180|Orphanet:496751|OMIM:616854 ORPHA:496751|UMLS:C4225180|http://identifiers.org/omim/616854 http://purl.obolibrary.org/obo/MONDO_0014801 even-plus syndrome; EVPLS|epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations|EVPLS|even-plus syndrome|epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome ordo_malformation_syndrome HGNC:6317 KIF1C biolink:OntologyClass mondo http://identifiers.org/hgnc/6317 MONDO:0014800 progressive scapulohumeroperoneal distal myopathy biolink:Disease mondo UMLS:C4225181|ICD10:G71.0|OMIM:616852|Orphanet:447977 UMLS:C4225181|ORPHA:447977|http://identifiers.org/omim/616852 http://purl.obolibrary.org/obo/MONDO_0014800 myopathy, scapulohumeroperoneal; SHPM|myopathy, scapulohumeroperoneal|SHPM ordo_disease HGNC:6318 KIF2A biolink:OntologyClass mondo http://identifiers.org/hgnc/6318 MONDO:0002806 bronchogenic carcinoma biolink:Disease mondo CSP:2017-6052|MESH:D002283|UMLS:C0007121|DOID:3904|ICD9:162.9|EFO:1001942|NCIT:C35875|SCTID:254622008 A lung carcinoma arising from the bronchial epithelium. DOID:3904|MESH:D002283|NCIT:C35875|SNOMEDCT:254622008|UMLS:C0007121 http://purl.obolibrary.org/obo/MONDO_0002806 bronchogenic lung carcinoma|carcinoma of bronchus|bronchial carcinoma|bronchiogenic carcinoma|bronchogenic carcinoma|bronchus carcinoma|carcinoma, bronchial, malignant|BC - bronchogenic carcinoma|bronchogenic lung cancer GO:0002706 regulation of lymphocyte mediated immunity biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity. http://purl.obolibrary.org/obo/GO_0002706 MONDO:0002807 bronchial neoplasm (disease) biolink:Disease mondo UMLS:C0006264|EFO:1000849|SCTID:126705004|HP:0030077|DOID:3906|MESH:D001984 Tumors or cancer of the bronchi. SNOMEDCT:126705004|DOID:3906|MESH:D001984|UMLS:C0006264 http://purl.obolibrary.org/obo/MONDO_0002807 tumor of bronchus|bronchus neoplasm|neoplasm of bronchus|bronchus tumor|bronchial neoplasm|bronchus neoplasm (disease) GO:0002707 negative regulation of lymphocyte mediated immunity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity. http://purl.obolibrary.org/obo/GO_0002707 downregulation of lymphocyte mediated immunity|down regulation of lymphocyte mediated immunity|inhibition of lymphocyte mediated immunity|down-regulation of lymphocyte mediated immunity MONDO:0002808 pancreatic serous cystadenoma biolink:Disease mondo DOID:3917|ONCOTREE:PSC|UMLS:C1335316|NCIT:C5712 A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss. DOID:3917|NCIT:C5712|UMLS:C1335316 http://purl.obolibrary.org/obo/MONDO_0002808 pancreatic serous cystadenoma|pancreatic microcystic adenoma|serous cystadenoma of pancreas|serous cystadenoma of the pancreas|pancreas serous cystadenoma|PSC GO:0002708 positive regulation of lymphocyte mediated immunity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity. http://purl.obolibrary.org/obo/GO_0002708 stimulation of lymphocyte mediated immunity|up regulation of lymphocyte mediated immunity|up-regulation of lymphocyte mediated immunity|activation of lymphocyte mediated immunity|upregulation of lymphocyte mediated immunity GO:0002709 regulation of T cell mediated immunity biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of T cell mediated immunity. http://purl.obolibrary.org/obo/GO_0002709 regulation of T-lymphocyte mediated immunity|regulation of T-cell mediated immunity|regulation of T lymphocyte mediated immunity MONDO:0002809 pancreatic cystadenoma biolink:Disease mondo DOID:3918|UMLS:C0341486|NCIT:C4374|SCTID:235967003 A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. UMLS:C0341486|DOID:3918|SNOMEDCT:235967003|NCIT:C4374 http://purl.obolibrary.org/obo/MONDO_0002809 exocrine pancreas cystadenoma|pancreatic cystadenoma|cystadenoma of pancreas|cystadenoma of the pancreas HP:0011858 Reduced factor IX activity biolink:PhenotypicFeature mondo UMLS:C4023159 Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. http://purl.obolibrary.org/obo/HP_0011858 Low factor IX activity GO:0002702 positive regulation of production of molecular mediator of immune response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response. http://purl.obolibrary.org/obo/GO_0002702 stimulation of production of molecular mediator of immune response|upregulation of production of molecular mediator of immune response|up-regulation of production of molecular mediator of immune response|up regulation of production of molecular mediator of immune response|activation of production of molecular mediator of immune response MONDO:0002802 functional colonic disease biolink:Disease mondo DOID:3877|UMLS:C0009374|MESH:D003109 Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category. MESH:D003109|UMLS:C0009374|DOID:3877 http://purl.obolibrary.org/obo/MONDO_0002802 MONDO:0002803 intestinal pseudo-obstruction biolink:Disease mondo EFO:1000988|SCTID:235825006|DOID:3878|NCIT:C34733|MESH:D007418|GARD:0006789|ICD9:569.89 Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate. NCIT:C34733|SNOMEDCT:235825006|MESH:D007418|DOID:3878 http://purl.obolibrary.org/obo/MONDO_0002803 pseudo-obstruction of intestine|intestinal pseudo-obstruction|intestinal pseudoobstruction|hollow visceral myopathy|intestine pseudoobstruction gard_rare GO:0002703 regulation of leukocyte mediated immunity biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity. http://purl.obolibrary.org/obo/GO_0002703 regulation of immune cell mediated immunity|regulation of leucocyte mediated immunity GO:0002704 negative regulation of leukocyte mediated immunity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity. http://purl.obolibrary.org/obo/GO_0002704 down-regulation of leukocyte mediated immunity|down regulation of leukocyte mediated immunity|downregulation of leukocyte mediated immunity|inhibition of leukocyte mediated immunity|negative regulation of immune cell mediated immunity|negative regulation of leucocyte mediated immunity MONDO:0002804 apocrine adenoma biolink:Disease mondo NCIT:C4168|SCTID:307596009|DOID:3895|ICDO:8401/0|UMLS:C0334345 A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma. NCIT:C4168|UMLS:C0334345|SNOMEDCT:307596009|DOID:3895 http://purl.obolibrary.org/obo/MONDO_0002804 tubular apocrine adenoma MONDO:0002805 hidradenoma biolink:Disease mondo NCIT:C7563|DOID:3896 A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma. NCIT:C7563|DOID:3896 http://purl.obolibrary.org/obo/MONDO_0002805 Syringoadenoma|hidradenoma of skin|hidradenoma|eccrine acrospiroma|sweat gland adenoma|acrospiroma GO:0002705 positive regulation of leukocyte mediated immunity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity. http://purl.obolibrary.org/obo/GO_0002705 upregulation of leukocyte mediated immunity|positive regulation of immune cell mediated immunity|positive regulation of leucocyte mediated immunity|up-regulation of leukocyte mediated immunity|up regulation of leukocyte mediated immunity|activation of leukocyte mediated immunity|stimulation of leukocyte mediated immunity MONDO:0002820 obsolete thyroid carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002820 GO:0002710 negative regulation of T cell mediated immunity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity. http://purl.obolibrary.org/obo/GO_0002710 negative regulation of T-lymphocyte mediated immunity|downregulation of T cell mediated immunity|down regulation of T cell mediated immunity|inhibition of T cell mediated immunity|down-regulation of T cell mediated immunity|negative regulation of T-cell mediated immunity|negative regulation of T lymphocyte mediated immunity MONDO:0002821 trabecular follicular adenocarcinoma biolink:Disease mondo DOID:3964|UMLS:C0334327 DOID:3964|UMLS:C0334327 http://purl.obolibrary.org/obo/MONDO_0002821 follicular adenocarcinoma, trabecular|follicular adenocarcinoma, trabecular (morphologic abnormality)|trabecular follicular carcinoma GO:0002711 positive regulation of T cell mediated immunity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity. http://purl.obolibrary.org/obo/GO_0002711 stimulation of T cell mediated immunity|up regulation of T cell mediated immunity|positive regulation of T-cell mediated immunity|positive regulation of T lymphocyte mediated immunity|up-regulation of T cell mediated immunity|activation of T cell mediated immunity|positive regulation of T-lymphocyte mediated immunity|upregulation of T cell mediated immunity MONDO:0002822 trabecular adenocarcinoma biolink:Disease mondo ICDO:8190/3|DOID:3965|ICDO:8332/3|UMLS:C0302182|NCIT:C4068 A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern. UMLS:C0302182|DOID:3965|NCIT:C4068 http://purl.obolibrary.org/obo/MONDO_0002822 trabecular adenocarcinoma (morphologic abnormality)|trabecular adenocarcinoma|trabecular carcinoma|trabecula adenocarcinoma|Merkel cell carcinoma MONDO:0002823 obsolete thyroid gland medullary carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002823 GO:0002712 regulation of B cell mediated immunity biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of B cell mediated immunity. http://purl.obolibrary.org/obo/GO_0002712 regulation of B-cell mediated immunity|regulation of B lymphocyte mediated immunity|regulation of B-lymphocyte mediated immunity HP:0011842 Abnormality of skeletal morphology biolink:PhenotypicFeature mondo UMLS:C4023165 An abnormality of the form, structure, or size of the skeletal system. http://purl.obolibrary.org/obo/HP_0011842 Abnormally shaped skeletal NCBITaxon:63671 Turbinidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_63671 turban shells NCBITaxon:63672 Turbo organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_63672 Turbo NCBITaxon:63673 Turbo cornutus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_63673 Turbo (Taeniaturbo) cornutus|Turbo (Batillus) cornutus|Batillus cornutus HGNC:6323 KIF5A biolink:OntologyClass mondo http://identifiers.org/hgnc/6323 HGNC:6325 KIF5C biolink:OntologyClass mondo http://identifiers.org/hgnc/6325 GO:1903284 positive regulation of glutathione peroxidase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of glutathione peroxidase activity. http://purl.obolibrary.org/obo/GO_1903284 up regulation of non-selenium glutathione peroxidase activity|up-regulation of glutathione peroxidase activity|positive regulation of selenium-glutathione peroxidase activity|enhancement of GPX activity|up regulation of selenium-glutathione peroxidase activity|up-regulation of reduced glutathione peroxidase activity|up-regulation of GSH peroxidase activity|upregulation of glutathione:hydrogen-peroxide oxidoreductase activity|up regulation of glutathione peroxidase activity|up-regulation of non-selenium glutathione peroxidase activity|up-regulation of selenium-glutathione peroxidase activity|up regulation of GSH peroxidase activity|up regulation of reduced glutathione peroxidase activity|activation of glutathione peroxidase activity|activation of selenium-glutathione peroxidase activity|activation of GSH peroxidase activity|positive regulation of GSH peroxidase activity|activation of reduced glutathione peroxidase activity|positive regulation of reduced glutathione peroxidase activity|upregulation of glutathione peroxidase activity|activation of non-selenium glutathione peroxidase activity|upregulation of non-selenium glutathione peroxidase activity|up-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|upregulation of reduced glutathione peroxidase activity|upregulation of GSH peroxidase activity|upregulation of selenium-glutathione peroxidase activity|up regulation of glutathione:hydrogen-peroxide oxidoreductase activity|positive regulation of non-selenium glutathione peroxidase activity|positive regulation of glutathione:hydrogen-peroxide oxidoreductase activity|activation of glutathione:hydrogen-peroxide oxidoreductase activity GO:1903283 negative regulation of glutathione peroxidase activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of glutathione peroxidase activity. http://purl.obolibrary.org/obo/GO_1903283 downregulation of glutathione peroxidase activity|inhibition of reduced glutathione peroxidase activity|inhibition of GSH peroxidase activity|downregulation of non-selenium glutathione peroxidase activity|downregulation of GSH peroxidase activity|downregulation of reduced glutathione peroxidase activity|negative regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|downregulation of selenium-glutathione peroxidase activity|down regulation of non-selenium glutathione peroxidase activity|down regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of glutathione peroxidase activity|inhibition of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of non-selenium glutathione peroxidase activity|negative regulation of non-selenium glutathione peroxidase activity|down regulation of selenium-glutathione peroxidase activity|inhibition of selenium-glutathione peroxidase activity|downregulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of GSH peroxidase activity|negative regulation of reduced glutathione peroxidase activity|negative regulation of GSH peroxidase activity|down-regulation of reduced glutathione peroxidase activity|negative regulation of selenium-glutathione peroxidase activity|down-regulation of selenium-glutathione peroxidase activity|down regulation of glutathione peroxidase activity|inhibition of non-selenium glutathione peroxidase activity|down regulation of reduced glutathione peroxidase activity|down regulation of GSH peroxidase activity|inhibition of glutathione peroxidase activity GO:1903282 regulation of glutathione peroxidase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glutathione peroxidase activity. http://purl.obolibrary.org/obo/GO_1903282 regulation of non-selenium glutathione peroxidase activity|regulation of selenium-glutathione peroxidase activity|regulation of glutathione:hydrogen-peroxide oxidoreductase activity|regulation of reduced glutathione peroxidase activity|regulation of GSH peroxidase activity HP:0008207 Primary adrenal insufficiency biolink:PhenotypicFeature mondo SNOMEDCT_US:373662000|SNOMEDCT_US:363732003|SNOMEDCT_US:386584007|MSH:D000224|UMLS:C0001403|UMLS:C0405580 Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. http://purl.obolibrary.org/obo/HP_0008207 Primary adrenocortical failure|Addison disease|Adrenocortical insufficiency|Addison's disease GO:0002717 positive regulation of natural killer cell mediated immunity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immunity. http://purl.obolibrary.org/obo/GO_0002717 up regulation of natural killer cell mediated immunity|positive regulation of natural killer cell activity|activation of natural killer cell mediated immunity|stimulation of natural killer cell mediated immunity|upregulation of natural killer cell mediated immunity|positive regulation of NK cell activity|up-regulation of natural killer cell mediated immunity|positive regulation of NK cell mediated immunity MONDO:0002817 adrenal gland cancer biolink:Disease mondo GARD:0005751|NCIT:C9338|ICD10:C74|SCTID:127021009|ICD10:C74.9|DOID:3953|ICD9:239.7|ICD9:194.0|MESH:D000310 A malignant neoplasm involving the adrenal gland SNOMEDCT:127021009|MESH:D000310|NCIT:C9338|DOID:3953 http://purl.obolibrary.org/obo/MONDO_0002817 malignant tumor of the adrenal gland|malignant tumor of adrenal gland|adrenal cancer|cancer of adrenal gland|adrenal gland cancer|malignant neoplasm of the adrenal gland|malignant adrenal gland neoplasm|malignant adrenal neoplasm|malignant neoplasm of adrenal gland|tumor of the adrenal gland|malignant adrenal gland tumor|neoplasm of adrenal gland|adrenal neoplasm|malignant adrenal tumor gard_rare HP:0011843 Abnormality of musculoskeletal physiology biolink:PhenotypicFeature mondo UMLS:C4023164 An abnormality of the function of the skeletal system. http://purl.obolibrary.org/obo/HP_0011843 GO:0002718 regulation of cytokine production involved in immune response biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response. http://purl.obolibrary.org/obo/GO_0002718 regulation of cytokine biosynthetic process involved in immune response|regulation of cytokine secretion involved in immune response|regulation of cytokine production during immune response MONDO:0002818 obsolete adrenal cortical adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002818 HP:0011844 Abnormal appendicular skeleton morphology biolink:PhenotypicFeature mondo UMLS:C4023163 An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. http://purl.obolibrary.org/obo/HP_0011844 NCBITaxon:194441 Primate T-lymphotropic virus 2 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_194441 NCBITaxon:194440 Primate T-lymphotropic virus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_194440 GO:0002719 negative regulation of cytokine production involved in immune response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response. http://purl.obolibrary.org/obo/GO_0002719 negative regulation of cytokine production during immune response|inhibition of cytokine production during immune response|negative regulation of cytokine secretion involved in immune response|downregulation of cytokine production during immune response|down-regulation of cytokine production during immune response|negative regulation of cytokine biosynthetic process involved in immune response|down regulation of cytokine production during immune response MONDO:0002819 obsolete Loeffler endocarditis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002819 HGNC:8980 PIK3R2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8980 MONDO:0002813 lipomatous cancer biolink:Disease mondo ICD9:171.9|NCIT:C4501|UMLS:C0346117|SCTID:254828009|DOID:3939 A malignant mesenchymal neoplasm arising from adipocytes. UMLS:C0346117|NCIT:C4501|SNOMEDCT:254828009|DOID:3939 http://purl.obolibrary.org/obo/MONDO_0002813 malignant neoplasm of adipose tissue|adipose tissue cancer|malignant adipose tissue tumor|malignant tumor of adipose tissue|malignant neoplasm of the adipose tissue|malignant lipomatous neoplasm|malignant adipose tissue neoplasm|malignant lipomatous tumor|cancer of adipose tissue|malignant tumor of the adipose tissue GO:0002713 negative regulation of B cell mediated immunity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell mediated immunity. http://purl.obolibrary.org/obo/GO_0002713 negative regulation of B-lymphocyte mediated immunity|downregulation of B cell mediated immunity|down regulation of B cell mediated immunity|inhibition of B cell mediated immunity|down-regulation of B cell mediated immunity|negative regulation of B-cell mediated immunity|negative regulation of B lymphocyte mediated immunity GO:0002714 positive regulation of B cell mediated immunity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of B cell mediated immunity. http://purl.obolibrary.org/obo/GO_0002714 positive regulation of B-cell mediated immunity|stimulation of B cell mediated immunity|positive regulation of B lymphocyte mediated immunity|up-regulation of B cell mediated immunity|activation of B cell mediated immunity|positive regulation of B-lymphocyte mediated immunity|upregulation of B cell mediated immunity|up regulation of B cell mediated immunity MONDO:0002814 adrenal carcinoma biolink:Disease mondo DOID:3950 A carcinoma involving a adrenal gland. DOID:3950 http://purl.obolibrary.org/obo/MONDO_0002814 carcinoma of adrenal gland|carcinoma of the adrenal gland|adrenal gland carcinoma MONDO:0002815 acute myocarditis biolink:Disease mondo ICD10:I40|UMLS:C0155686|SCTID:46701001|ICD9:422|DOID:3951|ICD9:422.99|COHD:312653|NCIT:C35206|ICD9:422.90|ICD10:I40.9 The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness. NCIT:C35206|SNOMEDCT:46701001|DOID:3951|UMLS:C0155686 http://purl.obolibrary.org/obo/MONDO_0002815 myocarditis, acute HP:0011849 Abnormal bone ossification biolink:PhenotypicFeature mondo UMLS:C4280317|MP:0008271|UMLS:C4023161 Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone maturation GO:0002715 regulation of natural killer cell mediated immunity biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of natural killer cell mediated immunity. http://purl.obolibrary.org/obo/GO_0002715 regulation of NK cell mediated immunity|regulation of natural killer cell activity GO:0002716 negative regulation of natural killer cell mediated immunity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immunity. http://purl.obolibrary.org/obo/GO_0002716 negative regulation of NK cell mediated immunity|negative regulation of NK cell activity|down-regulation of natural killer cell mediated immunity|down regulation of natural killer cell mediated immunity|negative regulation of natural killer cell activity|inhibition of natural killer cell mediated immunity|downregulation of natural killer cell mediated immunity MONDO:0002816 adrenal cortex disease biolink:Disease mondo SCTID:129636003|DOID:3952|UMLS:C0001614|MESH:D000303 A disease involving the adrenal cortex. UMLS:C0001614|SNOMEDCT:129636003|MESH:D000303|DOID:3952 http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disease or disorder|disorder of adrenal cortex|disease of adrenal cortex|disease or disorder of adrenal cortex|disorder of adrenal cortex|adrenal cortex disease HGNC:8983 PI4KA biolink:OntologyClass mondo http://identifiers.org/hgnc/8983 GO:0097014 ciliary plasm biolink:OntologyClass mondo All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. http://purl.obolibrary.org/obo/GO_0097014 cilium plasm|microtubule-based flagellar cytoplasm|cilial cytoplasm|microtubule-based flagellar matrix|cilium cytoplasm|microtubule-based flagellum cytoplasm|microtubule-based flagellum matrix|ciliary cytoplasm HP:0011830 Abnormal oral mucosa morphology biolink:PhenotypicFeature mondo UMLS:C4023170 Abnormality of the oral mucosa. http://purl.obolibrary.org/obo/HP_0011830 Abnormality of oral mucous membrane|Abnormality of lining of mouth|Abnormality of mucosa of mouth|Abnormality of oral mucosa hposlim_core HGNC:25186 TMEM240 biolink:OntologyClass mondo http://identifiers.org/hgnc/25186 UBERON:2001950 inter-premaxillary joint biolink:AnatomicalEntity mondo Joint that articulates the left and right premaxillary bones. Inter-premaxillary joint is unpaired. http://purl.obolibrary.org/obo/UBERON_2001950 HGNC:8996 PIP5K1C biolink:OntologyClass mondo http://identifiers.org/hgnc/8996 UBERON:0011645 iliofemoralis muscle biolink:AnatomicalEntity mondo Limb extensor that runs from ilium to femur. http://purl.obolibrary.org/obo/UBERON_0011645 iliofemoralis HGNC:6338 KIR3DL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6338 UBERON:0011648 jaw muscle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011648 mandibular muscles|mandibular muscle UBERON:0008000 sesamoid bone of pes biolink:AnatomicalEntity mondo A sesamoid bone that is part of a pes. http://purl.obolibrary.org/obo/UBERON_0008000 sesamoid bone of foot UBERON:0008001 irregular bone biolink:AnatomicalEntity mondo The irregular bones are bones which, from their peculiar form, cannot be grouped as long bone, short bone, flat bone or sesamoid bone. Irregular bones serve various purposes in the body, such as protection of nervous tissue, affording multiple anchor points for skeletal muscle attachment (as with the sacrum), and maintaining pharynx and trachea support, and tongue attachment (such as the hyoid bone). They consist of cancellous tissue enclosed within a thin layer of compact bone. The irregular bones are: the vertebrC&, sacrum, coccyx, temporal, sphenoid, ethmoid, zygomatic, maxilla, mandible, palatine, inferior nasal concha, and hyoid. http://purl.obolibrary.org/obo/UBERON_0008001 os irregulare|os irregulare MONDO:0002800 thrombophlebitis biolink:Disease mondo ICD9:451.0|ICD9:451.2|NCIT:C3410|ICD10:I80.0|MESH:D013924|DOID:3875|SCTID:40283005|COHD:320741|UMLS:C0040046 Inflammation of the veins associated with the presence of a thrombus. NCIT:C3410|SNOMEDCT:40283005|UMLS:C0040046|MESH:D013924|DOID:3875 http://purl.obolibrary.org/obo/MONDO_0002800 phlebitis and thrombophlebitis of superficial vessels of lower extremities|thrombophlebitis of a superficial leg vein|superficial thrombophlebitis of leg|thrombophlebitis of superficial veins of lower extremity MONDO:0002801 colonic pseudo-obstruction biolink:Disease mondo MESH:D003112|SCTID:35065006|UMLS:C0009377|DOID:3876|EFO:1000871|ICD9:564.89|GARD:0007248 Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome. SNOMEDCT:35065006|MESH:D003112|UMLS:C0009377|DOID:3876 http://purl.obolibrary.org/obo/MONDO_0002801 acute colonic ileus|primary chronic pseudo-obstruction of colon|ACPO|Ogilvie's syndrome|acute colonic pseudo-obstruction gard_rare HGNC:25198 SLC25A46 biolink:OntologyClass mondo http://identifiers.org/hgnc/25198 UBERON:0011642 oral epithelium from ectoderm biolink:AnatomicalEntity mondo An epithelium that develops_from a ectoderm and is part of a oral epithelium. http://purl.obolibrary.org/obo/UBERON_0011642 HGNC:6345 KLF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6345 HP:0011821 Abnormality of facial skeleton biolink:PhenotypicFeature mondo SNOMEDCT_US:433096001|UMLS:C2315229 An abnormality of one or more of the set of bones that make up the facial skeleton. http://purl.obolibrary.org/obo/HP_0011821 Anomaly of facial bones|Deformity of facial skeleton|Malformation of facial skeleton|Anomaly of facial skeleton|Malformation of facial bones|Deformity of the facial bones|Abnormality of facial skeleton|Abnormality of facial bones HGNC:6341 KISS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6341 GO:0097028 dendritic cell differentiation biolink:OntologyClass mondo The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. http://purl.obolibrary.org/obo/GO_0097028 HGNC:6342 KIT biolink:OntologyClass mondo http://identifiers.org/hgnc/6342 HGNC:6343 KITLG biolink:OntologyClass mondo http://identifiers.org/hgnc/6343 GO:0000041 transition metal ion transport biolink:OntologyClass mondo The directed movement of transition metal ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/GO_0000041 transition metal transport HGNC:25280 ODAD4 biolink:OntologyClass mondo http://identifiers.org/hgnc/25280 HGNC:37276 CRPPA biolink:OntologyClass mondo http://identifiers.org/hgnc/37276 SO:0000831 gene_member_region biolink:SequenceFeature mondo A region of a gene. http://purl.obolibrary.org/obo/SO_0000831 gene member region CHEBI:145795 digoxin(1-) biolink:ChemicalSubstance mondo An organic anion that is the conjugate base of digoxin resulting from the deprotonation of furanone moiety; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_145795 digoxin anion|12beta,14-dihydroxy-17beta-(5-oxo-2,5-dihydrofuran-2-id-3-yl)-5beta,14beta-androstan-3beta-yl 2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranoside|digoxin GO:0051641 cellular localization biolink:OntologyClass mondo A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. http://purl.obolibrary.org/obo/GO_0051641 intracellular localization|cellular localisation|localization within cell|establishment and maintenance of cellular localization|establishment and maintenance of localization in cell or cell membrane|single-organism cellular localization|single organism cellular localization GO:0051648 vesicle localization biolink:OntologyClass mondo Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0051648 cytoplasmic vesicle localization|vesicle localisation|establishment and maintenance of vesicle localization GO:0051649 establishment of localization in cell biolink:OntologyClass mondo Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/GO_0051649 establishment of cellular localization|establishment of intracellular localization|positioning within cell|establishment of localization within cell|establishment of localisation in cell GO:0000050 urea cycle biolink:OntologyClass mondo The sequence of reactions by which arginine is synthesized from ornithine, then cleaved to yield urea and regenerate ornithine. The overall reaction equation is NH3 + CO2 + aspartate + 3 ATP + 2 H2O = urea + fumarate + 2 ADP + 2 phosphate + AMP + diphosphate. http://purl.obolibrary.org/obo/GO_0000050 ornithine cycle|urea biosynthesis|urea biosynthetic process GO:0051640 organelle localization biolink:OntologyClass mondo Any process in which an organelle is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0051640 establishment and maintenance of organelle localization|organelle localisation NCBITaxon:216275 Vetigastropoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_216275 GO:0002687 positive regulation of leukocyte migration biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/GO_0002687 positive regulation of immune cell migration|positive regulation of leucocyte migration|up-regulation of leukocyte migration|up regulation of leukocyte migration|activation of leukocyte migration|stimulation of leukocyte migration|upregulation of leukocyte migration GO:0002688 regulation of leukocyte chemotaxis biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/GO_0002688 regulation of immune cell chemotaxis|regulation of leucocyte chemotaxis ENVO:01001788 marine ecosystem biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001788 GO:0002689 negative regulation of leukocyte chemotaxis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/GO_0002689 negative regulation of immune cell chemotaxis|negative regulation of leucocyte chemotaxis|downregulation of leukocyte chemotaxis|down regulation of leukocyte chemotaxis|inhibition of leukocyte chemotaxis|down-regulation of leukocyte chemotaxis HGNC:13281 ESPN biolink:OntologyClass mondo http://identifiers.org/hgnc/13281 ENVO:01001785 land biolink:OntologyClass mondo A surface layer of an astronomical body which is primarily composed of solid material and is not covered by oceans or other bodies of water. http://purl.obolibrary.org/obo/ENVO_01001785 GO:0002683 negative regulation of immune system process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/GO_0002683 down-regulation of immune system process|down regulation of immune system process|downregulation of immune system process|inhibition of immune system process GO:0002684 positive regulation of immune system process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/GO_0002684 activation of immune system process|stimulation of immune system process|upregulation of immune system process|up-regulation of immune system process|up regulation of immune system process ENVO:01001784 compound astronomical body part biolink:OntologyClass mondo A part of an astronomical body which is primarily composed of a continuous medium bearing liquid, gaseous, and solid material in varying quantities. http://purl.obolibrary.org/obo/ENVO_01001784 GO:0051656 establishment of organelle localization biolink:OntologyClass mondo The directed movement of an organelle to a specific location. http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localisation GO:0002685 regulation of leukocyte migration biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/GO_0002685 regulation of immune cell migration|regulation of leucocyte migration ENVO:01001787 aquatic ecosystem biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001787 GO:0002686 negative regulation of leukocyte migration biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/GO_0002686 inhibition of leukocyte migration|downregulation of leukocyte migration|negative regulation of immune cell migration|negative regulation of leucocyte migration|down-regulation of leukocyte migration|down regulation of leukocyte migration GO:0002682 regulation of immune system process biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/GO_0002682 GO:1905821 positive regulation of chromosome condensation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of chromosome condensation. http://purl.obolibrary.org/obo/GO_1905821 up regulation of eukaryotic chromosome condensation|upregulation of chromosome condensation|up-regulation of eukaryotic chromosome condensation|up-regulation of nuclear chromosome condensation|activation of eukaryotic chromosome condensation|up regulation of nuclear chromosome condensation|activation of nuclear chromosome condensation|positive regulation of nuclear chromosome condensation|up-regulation of chromosome condensation|upregulation of eukaryotic chromosome condensation|up regulation of chromosome condensation|upregulation of nuclear chromosome condensation|activation of chromosome condensation|positive regulation of eukaryotic chromosome condensation ENVO:01001781 part of a landmass biolink:OntologyClass mondo A solid astronomical body part which is part of the landmass of that body. http://purl.obolibrary.org/obo/ENVO_01001781 ENVO:01001780 desert ecosystem biolink:OntologyClass mondo An ecosystem in which the composition, structure, and function of resident ecological assemblages are primarily determined by a desert. http://purl.obolibrary.org/obo/ENVO_01001780 ENVO:01001782 landmass biolink:OntologyClass mondo A large continuous area of land, either surrounded by sea or contiguous with another landmass. http://purl.obolibrary.org/obo/ENVO_01001782 GO:0051650 establishment of vesicle localization biolink:OntologyClass mondo The directed movement of a vesicle to a specific location. http://purl.obolibrary.org/obo/GO_0051650 establishment of vesicle localisation NCBITaxon:216285 Trochoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_216285 Trochoidea|Turbinoidea|Phasianelloidea GO:0002698 negative regulation of immune effector process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process. http://purl.obolibrary.org/obo/GO_0002698 down-regulation of immune effector process|down regulation of immune effector process|inhibition of immune effector process|downregulation of immune effector process MONDO:0024299 vitamin D-dependent rickets biolink:Disease mondo SCTID:68295002|UMLS:C0221468 SNOMEDCT:68295002|UMLS:C0221468 http://purl.obolibrary.org/obo/MONDO_0024299 VDDR GO:0002699 positive regulation of immune effector process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of an immune effector process. http://purl.obolibrary.org/obo/GO_0002699 upregulation of immune effector process|up-regulation of immune effector process|up regulation of immune effector process|activation of immune effector process|stimulation of immune effector process GO:0002694 regulation of leukocyte activation biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/GO_0002694 regulation of leucocyte activation|regulation of immune cell activation GO:0002695 negative regulation of leukocyte activation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/GO_0002695 down regulation of leukocyte activation|inhibition of leukocyte activation|down-regulation of leukocyte activation|negative regulation of leucocyte activation|negative regulation of immune cell activation|downregulation of leukocyte activation GO:0002696 positive regulation of leukocyte activation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/GO_0002696 positive regulation of immune cell activation|positive regulation of leucocyte activation|upregulation of leukocyte activation|up regulation of leukocyte activation|stimulation of leukocyte activation|up-regulation of leukocyte activation|activation of leukocyte activation GO:0051668 localization within membrane biolink:OntologyClass mondo Any process in which a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a membrane. http://purl.obolibrary.org/obo/GO_0051668 positioning within membrane|localization to membrane|establishment and maintenance of localization in membrane|establishment and maintenance of position in membrane|localisation within membrane GO:0002697 regulation of immune effector process biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of an immune effector process. http://purl.obolibrary.org/obo/GO_0002697 GO:0002690 positive regulation of leukocyte chemotaxis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/GO_0002690 positive regulation of leucocyte chemotaxis|positive regulation of immune cell chemotaxis|upregulation of leukocyte chemotaxis|up regulation of leukocyte chemotaxis|stimulation of leukocyte chemotaxis|up-regulation of leukocyte chemotaxis|activation of leukocyte chemotaxis MONDO:0024292 gastrointestinal polyp biolink:Disease mondo NCIT:C35516|UMLS:C0744333 A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps. UMLS:C0744333|NCIT:C35516 http://purl.obolibrary.org/obo/MONDO_0024292 gastrointestinal tract polyp|GI polyp|gastrointestinal polyp MONDO:0024291 vascular malformation biolink:Disease mondo MESH:D054079 A non-neoplastic disorder that is the result of defects of vascular morphogenesis. MESH:D054079 http://purl.obolibrary.org/obo/MONDO_0024291 malformations, vascular|malformation, vascular|vascular malformation MONDO:0024294 skin disease caused by infection biolink:Disease mondo MESH:D012874 Skin diseases caused by bacteria, fungi, parasites, or viruses. MESH:D012874 http://purl.obolibrary.org/obo/MONDO_0024294 diseases, infectious skin|skin disease, infectious|disease, infectious skin|infectious skin diseases|infectious skin disease GO:0048018 receptor ligand activity biolink:OntologyClass mondo The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). http://purl.obolibrary.org/obo/GO_0048018 signaling molecule|vitamin D receptor activator activity|signaling receptor ligand activity|receptor agonist activity MONDO:0024293 polyposis, gastric, Dos Santos and de Magalhaes 1980 biolink:Disease mondo UMLS:C0236048|OMIM:175020 UMLS:C0236048|http://identifiers.org/omim/175020 http://purl.obolibrary.org/obo/MONDO_0024293 polyposis, gastric n_of_one MONDO:0024296 vascular neoplasm biolink:Disease mondo NCIT:C7388 A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. NCIT:C7388 http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasms|vascular tumor, NOS|vascular system neoplasm|tumors, vascular|tumor of vascular tissue|tumor of vascular system|vascular system neoplasm (disease)|vascular tissue neoplasm|vascular neoplasm|neoplasms, vascular|vascular tumor|neoplasm of vascular tissue|vascular tumors|vascular tissue tumor|neoplasm of vascular system|vascular system tumor MONDO:0024295 skin disease caused by bacterial infection biolink:Disease mondo MESH:D017192 Skin diseases caused by bacteria. MESH:D017192 http://purl.obolibrary.org/obo/MONDO_0024295 skin disease, bacterial|disease, bacterial skin|bacterial skin disease|diseases, bacterial skin|bacterial skin diseases|Bacteria skin disease caused by infection|Bacteria caused skin disease caused by infection MONDO:0024298 vitamin deficiency disorder biolink:Disease mondo ICD9:269.1|UMLS:C1510471|SCTID:85670002|EFO:0005878|NCIT:C35772|UMLS:C0376286|MESH:D001361|ICD9:269.2 A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. UMLS:C1510471|UMLS:C0376286|MESH:D001361|NCIT:C35772|SNOMEDCT:85670002 http://purl.obolibrary.org/obo/MONDO_0024298 Avitaminoses|avitaminosis|vitamin deficiency disorder|deficiencies, vitamin|vitamin deficiency|vitamin deficiencies|deficiency, vitamin MONDO:0024297 nutritional or metabolic disease biolink:Disease mondo ICD10:E00.E90|MESH:D009750|UMLS:C0028715 A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. UMLS:C0028715|MESH:D009750 http://purl.obolibrary.org/obo/MONDO_0024297 MONDO:0024290 enuresis biolink:Disease mondo NCIT:C34588|MESH:D004775|UMLS:C0014394 An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years). MESH:D004775|UMLS:C0014394|NCIT:C34588 http://purl.obolibrary.org/obo/MONDO_0024290 enuresis GO:0000002 mitochondrial genome maintenance biolink:OntologyClass mondo The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. http://purl.obolibrary.org/obo/GO_0000002 GO:0051674 localization of cell biolink:OntologyClass mondo Any process in which a cell is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0051674 establishment and maintenance of localization of cell|establishment and maintenance of cell localization|localisation of cell|cell localization GO:0000003 reproduction biolink:OntologyClass mondo The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. http://purl.obolibrary.org/obo/GO_0000003 reproductive physiological process HGNC:25240 ANO6 biolink:OntologyClass mondo http://identifiers.org/hgnc/25240 GO:0002660 positive regulation of peripheral tolerance induction biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/GO_0002660 stimulation of peripheral tolerance induction|up regulation of peripheral tolerance induction|activation of peripheral tolerance induction|up-regulation of peripheral tolerance induction|upregulation of peripheral tolerance induction HGNC:25244 CCDC39 biolink:OntologyClass mondo http://identifiers.org/hgnc/25244 HGNC:37234 TMEM231 biolink:OntologyClass mondo http://identifiers.org/hgnc/37234 GO:0002673 regulation of acute inflammatory response biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of an acute inflammatory response. http://purl.obolibrary.org/obo/GO_0002673 GO:0002674 negative regulation of acute inflammatory response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response. http://purl.obolibrary.org/obo/GO_0002674 inhibition of acute inflammatory response|downregulation of acute inflammatory response|down-regulation of acute inflammatory response|down regulation of acute inflammatory response GO:0002675 positive regulation of acute inflammatory response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response. http://purl.obolibrary.org/obo/GO_0002675 up-regulation of acute inflammatory response|up regulation of acute inflammatory response|activation of acute inflammatory response|stimulation of acute inflammatory response|upregulation of acute inflammatory response HGNC:37227 KBTBD13 biolink:OntologyClass mondo http://identifiers.org/hgnc/37227 CHEBI:51374 GABA agent biolink:ChemicalSubstance mondo A substance, such as agonists, antagonists, degradation or uptake inhibitors, depleters, precursors, and modulators of receptor function, used for its pharmacological actions on GABAergic systems. http://purl.obolibrary.org/obo/CHEBI_51374 GO:0000018 regulation of DNA recombination biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. http://purl.obolibrary.org/obo/GO_0000018 HGNC:13273 DUOX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/13273 GO:0002643 regulation of tolerance induction biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/GO_0002643 GO:0002644 negative regulation of tolerance induction biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/GO_0002644 inhibition of tolerance induction|downregulation of tolerance induction|down-regulation of tolerance induction|down regulation of tolerance induction ENVO:01001747 mass fluid flow biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001747 GO:0002645 positive regulation of tolerance induction biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/GO_0002645 up-regulation of tolerance induction|up regulation of tolerance induction|activation of tolerance induction|stimulation of tolerance induction|upregulation of tolerance induction HGNC:8907 PGM3 biolink:OntologyClass mondo http://identifiers.org/hgnc/8907 HGNC:25223 COQ2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25223 HGNC:25221 MMADHC biolink:OntologyClass mondo http://identifiers.org/hgnc/25221 GO:0061024 membrane organization biolink:OntologyClass mondo A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. http://purl.obolibrary.org/obo/GO_0061024 cellular membrane organisation|cellular membrane organization|membrane organisation|membrane organization and biogenesis|single-organism membrane organization HGNC:8910 PGR biolink:OntologyClass mondo http://identifiers.org/hgnc/8910 HGNC:8912 PHB biolink:OntologyClass mondo http://identifiers.org/hgnc/8912 HGNC:13243 LMBR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13243 HGNC:37212 KLLN biolink:OntologyClass mondo http://identifiers.org/hgnc/37212 GO:0002654 positive regulation of tolerance induction dependent upon immune response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/GO_0002654 positive regulation of immune response-dependent tolerance induction|up regulation of tolerance induction dependent upon immune response|stimulation of tolerance induction dependent upon immune response|activation of tolerance induction dependent upon immune response|up-regulation of tolerance induction dependent upon immune response|upregulation of tolerance induction dependent upon immune response CHEBI:51356 penicillinate anion biolink:ChemicalSubstance mondo Any anion formed by loss of a proton from the carboxy group of a penicillin. http://purl.obolibrary.org/obo/CHEBI_51356 penicillin anions|penicillin|penicillin anion GO:0002652 regulation of tolerance induction dependent upon immune response biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/GO_0002652 regulation of immune response-dependent tolerance induction GO:0002653 negative regulation of tolerance induction dependent upon immune response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/GO_0002653 downregulation of tolerance induction dependent upon immune response|negative regulation of immune response-dependent tolerance induction|down regulation of tolerance induction dependent upon immune response|inhibition of tolerance induction dependent upon immune response|down-regulation of tolerance induction dependent upon immune response HGNC:25230 AHDC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25230 HGNC:8918 PHEX biolink:OntologyClass mondo http://identifiers.org/hgnc/8918 HGNC:8923 PHGDH biolink:OntologyClass mondo http://identifiers.org/hgnc/8923 HGNC:8926 PHKA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8926 HGNC:8925 PHKA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8925 HGNC:13254 FTSJ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13254 GO:0002658 regulation of peripheral tolerance induction biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/GO_0002658 GO:0002659 negative regulation of peripheral tolerance induction biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/GO_0002659 inhibition of peripheral tolerance induction|down-regulation of peripheral tolerance induction|downregulation of peripheral tolerance induction|down regulation of peripheral tolerance induction GO:0099601 regulation of neurotransmitter receptor activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. http://purl.obolibrary.org/obo/GO_0099601 MONDO:0024245 ductal eccrine adenocarcinoma biolink:Disease mondo NCIT:C43345|SCTID:403939009|DOID:5570 DOID:5570|NCIT:C43345|SNOMEDCT:403939009 http://purl.obolibrary.org/obo/MONDO_0024245 sweat gland carcinoma of the hand|ductal eccrine carcinoma|primary mucoepidermoid cutaneous carcinoma|ductal eccrine adenocarcinoma|malignant hidradenoma|eccrine ductal carcinoma of skin|eccrine ductal carcinoma|anaplastic syringoma|eccrine ductal carcinoma (morphologic abnormality)|malignant acrospiroma|hidradenocarcinoma MONDO:0000278 obsolete Bolivian hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000278 MONDO:0000277 obsolete Argentine hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000277 MONDO:0000276 Powassan encephalitis biolink:Disease mondo SCTID:416707008|DOID:0050179|UMLS:C0032858|UMLS:C1563215|ICD9:063.8 A disease caused by infection with Powassan virus. UMLS:C0032858|DOID:0050179|UMLS:C1563215|SNOMEDCT:416707008 http://purl.obolibrary.org/obo/MONDO_0000276 Powassan virus infectious disease|Powassan virus caused disease or disorder|powassan encephalitis virus infection|Powassan virus disease or disorder|encephalitis, powassan MONDO:0024247 benign eccrine neoplasm biolink:Disease mondo NCIT:C6797|UMLS:C1332493|SCTID:254715009 A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma. SNOMEDCT:254715009|UMLS:C1332493|NCIT:C6797 http://purl.obolibrary.org/obo/MONDO_0024247 benign eccrine tumor of the skin|benign eccrine tumor|benign eccrine neoplasm of skin|benign eccrine skin tumor|benign eccrine neoplasm of the skin|benign eccrine skin neoplasm|eccrine sweat gland neoplasm, benign|benign eccrine neoplasm|benign eccrine sweat gland neoplasm|benign eccrine tumor of skin|benign skin tumor with eccrine differentiation MONDO:0024246 syringofibroadenoma biolink:Disease mondo NCIT:C43356|HP:0031018|ICDO:8392/0|UMLS:C1266060|SCTID:403936002|UMLS:C0473578 A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma. UMLS:C1266060|SNOMEDCT:403936002|UMLS:C0473578|NCIT:C43356 http://purl.obolibrary.org/obo/MONDO_0024246 acrosyringeal nevus|eccrine syringofibroadenoma|eccrine syringofibroadenomatous hyperplasia|syringofibroadenoma|eccrine syringofibroadenoma of skin|acrosyringeal adenomatosis MONDO:0000275 obsolete monogenic disease biolink:Disease mondo DOID:0050177 A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). DOID:0050177 http://purl.obolibrary.org/obo/MONDO_0000275 MONDO:0024249 pityriasis lichenoides biolink:Disease mondo NCIT:C85013|MESH:D017514|GARD:0010265|SCTID:200983001 A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica). NCIT:C85013|SNOMEDCT:200983001|MESH:D017514 http://purl.obolibrary.org/obo/MONDO_0024249 chronic Pityriasis Lichenoides|Pityriasis Lichenoides, acute|Pityriasis Lichenoides|Pityriasis Lichenoides chronica|parapsoriasis en gouttes|pityriasis lichenoides|Pityriasis Lichenoides et Varioliformis Acuta|parapsoriasis guttata|Pityriasis Lichenoides, chronic|acute Pityriasis Lichenoides gard_rare MONDO:0024248 obsolete pityriasis biolink:Disease mondo SCTID:34630004|MESH:D010915|ICD9:696.5 A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed) SNOMEDCT:34630004|MESH:D010915 http://purl.obolibrary.org/obo/MONDO_0024248 Pityriases MONDO:0000279 obsolete Venezuelan hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000279 MONDO:0000270 lower respiratory tract disease biolink:Disease mondo SCTID:128272009|ICD9:478.1|ICD9:478.19|UMLS:C1290325|DOID:0050161 A disease involving the lower respiratory tract. SNOMEDCT:128272009|DOID:0050161|UMLS:C1290325 http://purl.obolibrary.org/obo/MONDO_0000270 disorder of lower respiratory tract|lower respiratory tract disease|disease or disorder of lower respiratory tract|disorder of lower respiratory system|disease of lower respiratory tract|lower respiratory tract disease or disorder|disorder of lower respiratory tract MONDO:0000274 obsolete tick-borne encephalitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000274 MONDO:0024240 eccrine carcinoma biolink:Disease mondo DOID:4920|UMLS:C1302864|UMLS:C1707878|NCIT:C27255|SCTID:400173004|UMLS:C1266066|ICDO:8413/3 An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma. UMLS:C1266066|UMLS:C1707878|SNOMEDCT:400173004|UMLS:C1302864|DOID:4920|NCIT:C27255 http://purl.obolibrary.org/obo/MONDO_0024240 eccrine carcinoma|carcinoma of eccrine sweat gland|eccrine sweat gland carcinoma|eccrine adenocarcinoma (morphologic abnormality)|eccrine carcinoma of skin|eccrine sweat gland adenocarcinoma|eccrine adenocarcinoma|carcinoma, eccrine gland, malignant MONDO:0000273 Kunjin virus infectous disease biolink:Disease mondo DOID:0050174 DOID:0050174 http://purl.obolibrary.org/obo/MONDO_0000273 Kunjin encephalitis CHEBI:63332 EC 3.1.3.1 (alkaline phosphatase) inhibitor biolink:ChemicalSubstance mondo An EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor that interferes with the action of alkaline phosphatase (EC 3.1.3.1). http://purl.obolibrary.org/obo/CHEBI_63332 alkaline phosphohydrolase inhibitor|glycerophosphatase inhibitors|alkaline phenyl phosphatase inhibitors|alkaline phosphatase (EC 3.1.3.1) inhibitor|alkaline phosphomonoesterase inhibitor|EC 3.1.3.1 inhibitors|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitors|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitor|phosphomonoesterase inhibitors|alkaline phosphatase inhibitor|alkaline phosphatase inhibitors|phosphomonoesterase inhibitor|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitor|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitors|alkaline phosphomonoesterase inhibitors|EC 3.1.3.1 inhibitor|alkaline phosphatase (EC 3.1.3.1) inhibitors|alkaline phenyl phosphatase inhibitor|EC 3.1.3.1 (alkaline phosphatase) inhibitors|glycerophosphatase inhibitor|alkaline phosphohydrolase inhibitors MONDO:0000272 obsolete autoimmune polyendocrine syndrome type 2 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000272 MONDO:0000271 tuberculous salpingitis biolink:Disease mondo ICD9:016.6|ICD10:A18.17|DOID:0050166|UMLS:C0275933|ICD9:016.60|SCTID:49558004 An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube. DOID:0050166|SNOMEDCT:49558004|UMLS:C0275933 http://purl.obolibrary.org/obo/MONDO_0000271 fallopian tube tuberculosis MONDO:0012267 holoprosencephaly 8 biolink:Disease mondo OMIM:609408|DOID:0110879|UMLS:C1836254|MESH:C563723 A holoprosencephaly that has material basis in variation in the chromosome region 14q13. http://identifiers.org/omim/609408|UMLS:C1836254|DOID:0110879|MESH:C563723 http://purl.obolibrary.org/obo/MONDO_0012267 HPE8|holoprosencephaly type 8|holoprosencephaly 8; HPE8|holoprosencephaly 8 MONDO:0012268 AIDS biolink:Disease mondo NCIT:C2851|SCTID:62479008|ICD10:B20|MESH:D000163|DOID:635|EFO:0000765 A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. MESH:D000163|NCIT:C2851|DOID:635|SNOMEDCT:62479008 http://purl.obolibrary.org/obo/MONDO_0012268 AIDS|acquired immunodeficiency syndrome|AIDS, acquired immunodeficiency syndrome|acquired immunodeficiency syndrome, AIDS|acquired immunodeficiency disease|acquired immune deficiency|acquired immune deficiency syndrome MONDO:0012265 PEE3 biolink:Disease mondo OMIM:609403|UMLS:C1836256 http://identifiers.org/omim/609403|UMLS:C1836256 http://purl.obolibrary.org/obo/MONDO_0012265 PREECLAMPSIA/eclampsia 3|PREECLAMPSIA/eclampsia 3; PEE3|PEE3 MONDO:0012266 preeclampsia/eclampsia 4 biolink:Disease mondo UMLS:C1836255|OMIM:609404|MESH:C563724 Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. http://identifiers.org/omim/609404|UMLS:C1836255|MESH:C563724 http://purl.obolibrary.org/obo/MONDO_0012266 preeclampsia caused by mutation in STOX1|PREECLAMPSIA/eclampsia 4; PEE4|Preeclampsia/eclampsia type 4|preeclampsia/eclampsia 4|STOX1 preeclampsia|PEE4 MONDO:0012269 chromosome 3q29 microdeletion syndrome biolink:Disease mondo SCTID:716456000|MESH:C567184|Orphanet:65286|UMLS:C2674949|GARD:0011974|ICD10:Q93.5|OMIM:609425|DOID:0060419 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. http://identifiers.org/omim/609425|MESH:C567184|SNOMEDCT:716456000|UMLS:C2674949|ORPHA:65286|DOID:0060419 http://purl.obolibrary.org/obo/MONDO_0012269 3qter deletion|monosomy 3qter|3q29 microdeletion syndrome|3q29 deletion|monosomy 3q29|chromosome 3q29 deletion syndrome|3q29 deletion syndrome|microdeletion 3Q29 syndrome|3q subtelomere deletion syndrome|Del(3)(q29) ordo_malformation_syndrome HGNC:15889 FERMT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15889 HGNC:15888 RTEL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15888 MONDO:0012260 cataract 35 biolink:Disease mondo OMIM:609376|ICD10:Q12.0|MESH:C563728|UMLS:C1836272|DOID:0110261 A cataract that has material basis in variation in the region 19q13. DOID:0110261|UMLS:C1836272|MESH:C563728|http://identifiers.org/omim/609376 http://purl.obolibrary.org/obo/MONDO_0012260 cataract 35, congenital nuclear|cataract type 35|cataract 35; CTRCT35|autosomal recessive congenital nuclear cataract 1|cataract 35|cataract, congenital nuclear, autosomal recessive 1|CTRCT35|CATCN1 HGNC:13221 BCL11A biolink:OntologyClass mondo http://identifiers.org/hgnc/13221 HGNC:13222 BCL11B biolink:OntologyClass mondo http://identifiers.org/hgnc/13222 MONDO:0012263 AIS4 biolink:Disease mondo OMIM:609400 http://identifiers.org/omim/609400 http://purl.obolibrary.org/obo/MONDO_0012263 autoimmune disease, susceptibility to, 4; AIS4|autoimmune disease, susceptibility to, 4|vitiligo-associated multiple autoimmune disease susceptibility 5|AIS4|autoimmune disease susceptibility locus, chromosome 4-related predisposition MONDO:0012264 PEE2 biolink:Disease mondo OMIM:609402|UMLS:C1836257 UMLS:C1836257|http://identifiers.org/omim/609402 http://purl.obolibrary.org/obo/MONDO_0012264 PREECLAMPSIA/eclampsia 2|PREECLAMPSIA/eclampsia 2; PEE2|PEE2 CHEBI:77974 food packaging gas biolink:ChemicalSubstance mondo A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container. http://purl.obolibrary.org/obo/CHEBI_77974 food packaging gases MONDO:0012261 AUTS6 biolink:Disease mondo UMLS:C1836271|OMIM:609378 UMLS:C1836271|http://identifiers.org/omim/609378 http://purl.obolibrary.org/obo/MONDO_0012261 AUTS6|autism, susceptibility to, 6; AUTS6|autism, susceptibility to, 6 predisposition MONDO:0012262 CFEOM3C biolink:Disease mondo OMIM:609384|MESH:C567666|UMLS:C2750404 MESH:C567666|UMLS:C2750404|http://identifiers.org/omim/609384 http://purl.obolibrary.org/obo/MONDO_0012262 fibrosis of extraocular muscles, congenital, 3C; CFEOM3C|fibrosis of extraocular muscles, congenital, 3C|CFEOM3C|Feom4 locus MONDO:0024234 Seckel like syndrome majoor-krakauer type biolink:Disease mondo GARD:0004781 http://purl.obolibrary.org/obo/MONDO_0024234 Bird-headed dwarfism microcephaly micrognathia gard_rare MONDO:0000289 obsolete selective IgM deficiency disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000289 MONDO:0000288 polycystic echinococcosis biolink:Disease mondo DOID:0050218 DOID:0050218 http://purl.obolibrary.org/obo/MONDO_0000288 neotropical echinococcosis|human polycystic hydatid disease MONDO:0000287 obsolete Lambert-Eaton myasthenic syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000287 MONDO:0024236 obsolete degenerative disorder biolink:Disease mondo UMLS:C1285162|NCIT:C27090|SCTID:362975008|ICD9:796.4 A disorder characterized by the progressive loss of function and/or structure of the affected tissues. http://purl.obolibrary.org/obo/MONDO_0024236 degenerative disorder|degenerative disease MONDO:0000286 Epstein-Barr virus hepatitis biolink:Disease mondo UMLS:C0554114|DOID:0050204|SCTID:302919001 A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice. UMLS:C0554114|DOID:0050204|SNOMEDCT:302919001 http://purl.obolibrary.org/obo/MONDO_0000286 MONDO:0024235 Brenner tumor biolink:Disease mondo ICDO:9000/0|ONCOTREE:BTOV|NCIT:C39954 A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature. NCIT:C39954 http://purl.obolibrary.org/obo/MONDO_0024235 Brenner tumor MONDO:0024238 cerebral degeneration biolink:Disease mondo UMLS:C0154671|ICD9:331.9|SCTID:418143002 A neurodegenerative disease that involves the telencephalon. UMLS:C0154671|SNOMEDCT:418143002 http://purl.obolibrary.org/obo/MONDO_0024238 neurodegenerative disease of telencephalon|telencephalon neurodegenerative disease|cerebral degeneration MONDO:0024237 inherited neurodegenerative disorder biolink:Disease mondo UMLS:CN200549|UMLS:C3273225|Orphanet:183500|MESH:D020271|NCIT:C97073 An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. MESH:D020271|UMLS:C3273225|ORPHA:183500|UMLS:CN200549|NCIT:C97073 http://purl.obolibrary.org/obo/MONDO_0024237 genetic neurodegenerative disease|hereditary neurodegenerative disorder|hereditary neurodegenerative disease ordo_group_of_disorders MONDO:0024239 congenital anomaly of cardiovascular system biolink:Disease mondo SCTID:9904008|NCIT:C35729|ICD9:747.89|ICD9:747.9 A disease that has its basis in the disruption of cardiovascular system development. SNOMEDCT:9904008|NCIT:C35729 http://purl.obolibrary.org/obo/MONDO_0024239 disorder of cardiovascular system development|congenital cardiovascular anomaly|congenital cardiovascular disorder|congenital anomaly of cardiovascular system|disorder of cardiovascular system development|cardiovascular system development disease|congenital Abnormality of the circulatory system|congenital cardiovascular Abnormality MONDO:0000281 obsolete Chapare hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000281 MONDO:0000280 obsolete Brazilian hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000280 MONDO:0000285 obsolete lujo hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000285 MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type biolink:Disease mondo DOID:0050201|UMLS:C0242993 UMLS:C0242993|DOID:0050201 http://purl.obolibrary.org/obo/MONDO_0000284 nephropathis epidemica|nephropathia epidemica MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type biolink:Disease mondo DOID:0050200 DOID:0050200 http://purl.obolibrary.org/obo/MONDO_0000283 Korean hemorrhagic fever MONDO:0000282 Whitewater Arroyo hemorrhagic fever biolink:Disease mondo DOID:0050199 A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations. DOID:0050199 http://purl.obolibrary.org/obo/MONDO_0000282 MONDO:0012256 hereditary spastic paraplegia 28 biolink:Disease mondo MESH:C563732|UMLS:C1836295|SCTID:763376002|DOID:0110779|Orphanet:101008|ICD10:G11.4|OMIM:609340 Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. http://identifiers.org/omim/609340|SNOMEDCT:763376002|DOID:0110779|UMLS:C1836295|ORPHA:101008|MESH:C563732 http://purl.obolibrary.org/obo/MONDO_0012256 spastic paraplegia 28, autosomal recessive; SPG28|DDHD1 autosomal recessive pure spastic paraplegia|autosomal recessive spastic paraplegia type 28|hereditary spastic paraplegia type 28|autosomal recessive pure spastic paraplegia caused by mutation in DDHD1|spastic paraplegia 28, autosomal recessive|autosomal recessive spastic paraplegia 28|SPG28 ordo_disease MONDO:0012257 Cerebrorenodigital syndrome biolink:Disease mondo UMLS:C1836287|MESH:C563731|ICD10:Q87.8|Orphanet:1396|OMIM:609345 http://identifiers.org/omim/609345|ORPHA:1396|UMLS:C1836287|MESH:C563731 http://purl.obolibrary.org/obo/MONDO_0012257 CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula ordo_malformation_syndrome MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses biolink:Disease mondo OMIM:609325|UMLS:C1836307|ICD10:Q77.3|Orphanet:166032|MESH:C563735 Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. http://identifiers.org/omim/609325|UMLS:C1836307|MESH:C563735|ORPHA:166032 http://purl.obolibrary.org/obo/MONDO_0012254 epiphyseal dysplasia, multiple, with miniepiphyses ordo_disease MONDO:0012255 chromosome 18 pericentric inversion biolink:Disease mondo MESH:C563734|UMLS:C1836305|OMIM:609334 http://identifiers.org/omim/609334|UMLS:C1836305|MESH:C563734 http://purl.obolibrary.org/obo/MONDO_0012255 chromosome 18 pericentric inversion MONDO:0012258 epidermolysis bullosa simplex with circinate migratory erythema biolink:Disease mondo SCTID:716700003|ICD10:Q81.0|MESH:C563730|UMLS:C1836284|Orphanet:158681|OMIM:609352 Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. http://identifiers.org/omim/609352|SNOMEDCT:716700003|ORPHA:158681|UMLS:C1836284|MESH:C563730 http://purl.obolibrary.org/obo/MONDO_0012258 EBS-migr|epidermolysis bullosa simplex with migratory circinate erythema ordo_disease MONDO:0012259 colloid cysts of third ventricle biolink:Disease mondo OMIM:609363|MESH:C535966|GARD:0009878 Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening. http://identifiers.org/omim/609363|MESH:C535966 http://purl.obolibrary.org/obo/MONDO_0012259 neuroepithelial cysts of third ventricle|colloid cysts of third ventricle gard_rare HGNC:15899 NDUFAF5 biolink:OntologyClass mondo http://identifiers.org/hgnc/15899 HGNC:15894 PANK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15894 MONDO:0012252 rhabdoid tumor predisposition syndrome 1 biolink:Disease mondo OMIM:609322 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene. http://identifiers.org/omim/609322 http://purl.obolibrary.org/obo/MONDO_0012252 brain tumor, posterior fossa, of infancy, familial|SMARCB1 familial rhabdoid tumor|At/RT|rhabdoid tumor predisposition syndrome 1; RTPS1|malignant rhabdoid tumor, somatic|familial rhabdoid tumor caused by mutation in SMARCB1|rhabdoid tumor predisposition syndrome type 1|rhabdoid tumor predisposition syndrome 1|teratoid tumor, atypical|RTPS1 MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia biolink:Disease mondo ICD10:Q77.3|Orphanet:166029|UMLS:C1836315|OMIM:609324|MESH:C563736 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. http://identifiers.org/omim/609324|UMLS:C1836315|MESH:C563736|ORPHA:166029 http://purl.obolibrary.org/obo/MONDO_0012253 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia ordo_disease CHEBI:75324 excipient biolink:ChemicalSubstance mondo A generally pharmacologically inactive substance that is formulated with the active ingredient of a medication. http://purl.obolibrary.org/obo/CHEBI_75324 filler|excipient|bulking agents|bulking agent|fillers MONDO:0012250 Charcot-Marie-Tooth disease type 4H biolink:Disease mondo UMLS:C1836336|Orphanet:99954|MESH:C563740|DOID:0110192|GARD:0012442|OMIM:609311|SCTID:715802008|ICD10:G60.0 Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy ORPHA:99954|DOID:0110192|SNOMEDCT:715802008|UMLS:C1836336|MESH:C563740|http://identifiers.org/omim/609311 http://purl.obolibrary.org/obo/MONDO_0012250 FGD4 Charcot-Marie-Tooth disease type 4|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, autosomal recessive, type 4H|Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4|CMT4H|autosomal recessive Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, type 4H; CMT4H|Charcot-Marie-Tooth neuropathy, type 4H|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H|Charcot-Marie-Tooth disease, type 4H|Charcot-Marie-Tooth neuropathy type 4H ordo_disease|gard_rare MONDO:0012251 MEDNIK syndrome biolink:Disease mondo Orphanet:171851|UMLS:CN229776|DOID:0060483|OMIM:609313|SCTID:722035007|MESH:C563739|UMLS:C1836330 MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia). ORPHA:171851|UMLS:C1836330|DOID:0060483|MESH:C563739|UMLS:CN229776|SNOMEDCT:722035007|http://identifiers.org/omim/609313 http://purl.obolibrary.org/obo/MONDO_0012251 MEDNIK|mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma; MEDNIK|mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma; MEDNIK|erythrokeratodermia variabilis, Kamouraska type|erythrokeratodermia variabilis 3|intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome ordo_disease MONDO:0000256 systemic mycosis biolink:Disease mondo UMLS:C0553576|ICD9:117.9|SCTID:399314004|DOID:0050136 A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system. SNOMEDCT:399314004|DOID:0050136|UMLS:C0553576 http://purl.obolibrary.org/obo/MONDO_0000256 systemic fungal infection MONDO:0000255 subcutaneous mycosis biolink:Disease mondo DOID:0050135 A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis. DOID:0050135 http://purl.obolibrary.org/obo/MONDO_0000255 subcutaneous mycosis MONDO:0000254 cutaneous mycosis biolink:Disease mondo SCTID:14560005|DOID:0050134 A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis. DOID:0050134|SNOMEDCT:14560005 http://purl.obolibrary.org/obo/MONDO_0000254 MONDO:0000253 piedra biolink:Disease mondo UMLS:C0031898|MESH:D010854|SCTID:402135006 Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species. SNOMEDCT:402135006|UMLS:C0031898|MESH:D010854 http://purl.obolibrary.org/obo/MONDO_0000253 Piedras, black|steroid-modified tinea infection|piedra, White|White piedra|black Piedras|hair shaft fungal infectious disease|Piedras, White|black piedra|White Piedras|piedra, black|Piedras MONDO:0000259 asymptomatic dengue biolink:Disease mondo DOID:0050143 DOID:0050143 http://purl.obolibrary.org/obo/MONDO_0000259 MONDO:0000258 obsolete intestinal botulism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000258 MONDO:0000257 acute diarrhea biolink:Disease mondo DOID:0050140|SCTID:409966000|UMLS:C0740441 Acute form of diarrhea. UMLS:C0740441|DOID:0050140|SNOMEDCT:409966000 http://purl.obolibrary.org/obo/MONDO_0000257 acute diarrheal disease|diarrheal disease, acute|diarrhea, acute|diarrhea (disease), acute MONDO:0000252 inflammatory diarrhea biolink:Disease mondo SCTID:95544006|DOID:0050132 An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa. DOID:0050132|SNOMEDCT:95544006 http://purl.obolibrary.org/obo/MONDO_0000252 MONDO:0000251 diarrheal disease secondary to altered bowel motility biolink:Disease mondo A diarrhea that results from either increased or decreased motility in the bowel. http://purl.obolibrary.org/obo/MONDO_0000251 motility-related diarrhea|diarrhea secondary to altered bowel motility MONDO:0000250 osmotic diarrheal disease biolink:Disease mondo MEDGEN:540779|UMLS:C0267556|SCTID:2946003|DOID:0050130 A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. UMLS:C0267556|DOID:0050130|SNOMEDCT:2946003 http://purl.obolibrary.org/obo/MONDO_0000250 permeability diarrhea|osmotic diarrhea MONDO:0012245 developmental and epileptic encephalopathy, 3 biolink:Disease mondo OMIM:609304 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene. http://identifiers.org/omim/609304 http://purl.obolibrary.org/obo/MONDO_0012245 SLC25A22 early infantile epileptic encephalopathy|EIEE3|epileptic encephalopathy, early infantile, type 3|epileptic encephalopathy, early infantile, 3|early infantile epileptic encephalopathy caused by mutation in SLC25A22|epileptic encephalopathy, early infantile, 3; EIEE3|DEE3 MONDO:0012246 spinocerebellar ataxia type 26 biolink:Disease mondo OMIM:609306|GARD:0009995|DOID:0050975|MESH:C537203|UMLS:C1836395|ICD10:G11.2|SCTID:718769009|Orphanet:101112 Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. http://identifiers.org/omim/609306|MESH:C537203|SNOMEDCT:718769009|DOID:0050975|UMLS:C1836395|ORPHA:101112 http://purl.obolibrary.org/obo/MONDO_0012246 SCA26|spinocerebellar ataxia 26; SCA26|spinocerebellar ataxia 26|spinocerebellar ataxia type 26 ordo_disease HGNC:15868 ABHD12 biolink:OntologyClass mondo http://identifiers.org/hgnc/15868 MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations biolink:Disease mondo MESH:C563745|UMLS:C1836437|OMIM:609296 http://identifiers.org/omim/609296|MESH:C563745|UMLS:C1836437 http://purl.obolibrary.org/obo/MONDO_0012243 Bilu syndrome|Hoffman syndrome|B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MONDO:0012244 prostate cancer, hereditary, 5 biolink:Disease mondo OMIM:609299|MESH:C563744|UMLS:C1836436 http://identifiers.org/omim/609299|MESH:C563744|UMLS:C1836436 http://purl.obolibrary.org/obo/MONDO_0012244 prostate cancer, hereditary, type 5|prostate cancer, hereditary, 5|HPC5 MONDO:0012249 colorectal cancer, hereditary nonpolyposis, type 2 biolink:Disease mondo NCIT:C6726|OMIM:609310|MESH:D055847|DOID:0070274 A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage. DOID:0070274|http://identifiers.org/omim/609310|MESH:D055847|NCIT:C6726 http://purl.obolibrary.org/obo/MONDO_0012249 Hereditary non-polyposis colon cancer type 2|COCA2|colorectal cancer, hereditary nonpolyposis, type 2|colorectal cancer, hereditary nonpolyposis, type 2; HNPCC2|HNPCC2|colon cancer, familial nonpolyposis, type 2|Hereditary nonpolyposis colorectal cancer type 2|familial non-polyposis colon cancer type 2|Lynch 2 syndrome HGNC:15865 KIZ biolink:OntologyClass mondo http://identifiers.org/hgnc/15865 HGNC:15864 RBCK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15864 HGNC:13203 AICDA biolink:OntologyClass mondo http://identifiers.org/hgnc/13203 MONDO:0012247 spinocerebellar ataxia type 27 biolink:Disease mondo UMLS:C4304846|OMIM:609307|ICD10:G11.8|GARD:0009963|DOID:0050976|MESH:C537204|SCTID:719252002|UMLS:C1836383|Orphanet:98764 Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. SNOMEDCT:719252002|http://identifiers.org/omim/609307|MESH:C537204|ORPHA:98764|UMLS:C4304846|DOID:0050976|UMLS:C1836383 http://purl.obolibrary.org/obo/MONDO_0012247 SCA27|spinocerebellar ataxia 27; SCA27|cerebellar ataxia autosomal dominant FGF14-related|spinocerebellar ataxia 27|cerebellar ataxia, autosomal dominant, Fgf14-related|spinocerebellar ataxia type 27 ordo_disease MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K biolink:Disease mondo Orphanet:86812|EFO:0009145|ICD10:G71.0|DOID:0110297|NCIT:C133730|SCTID:720523006|GARD:0012535|OMIM:609308 Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. SNOMEDCT:720523006|http://identifiers.org/omim/609308|NCIT:C133730|ORPHA:86812|DOID:0110297 http://purl.obolibrary.org/obo/MONDO_0012248 autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1|POMT1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; MDDGC1|limb-girdle muscular dystrophy - intellectual disability|MDDGC1|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1|LGMD2K|muscular dystrophy, limb-girdle, type 2K|limb-girdle muscular dystrophy-intellectual disability syndrome|muscular dystrophy limb-girdle type 2K|limb-girdle muscular dystrophy type 2K ordo_disease HGNC:15860 PRPF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/15860 HGNC:13201 ADAMTS10 biolink:OntologyClass mondo http://identifiers.org/hgnc/13201 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 biolink:Disease mondo UMLS:C1836439|OMIM:609286|MESH:C563747 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene. http://identifiers.org/omim/609286|UMLS:C1836439|MESH:C563747 http://purl.obolibrary.org/obo/MONDO_0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; PEOA3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|progressive external ophthalmoplegia, autosomal dominant 3|TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK|PEOA3 MONDO:0012242 VVS biolink:Disease mondo OMIM:609289|MESH:C536849|UMLS:C1836438|GARD:0009502 http://identifiers.org/omim/609289|MESH:C536849|UMLS:C1836438 http://purl.obolibrary.org/obo/MONDO_0012242 familial vasovagal syncope|VVS|syncope, familial VASOVAGAL; VVS|familial neurocardiogenic syncope|syncope familial neurocardiogenic|syncope, familial Neurocardiogenic|syncope, familial VASOVAGAL MONDO:0012240 nemaline myopathy 4 biolink:Disease mondo OMIM:609285|MESH:C538351|UMLS:C1836447|DOID:0110932 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene. http://identifiers.org/omim/609285|MESH:C538351|DOID:0110932|UMLS:C1836447 http://purl.obolibrary.org/obo/MONDO_0012240 nemaline myopathy type 4|TPM2 nemaline myopathy|nemaline myopathy 4; NEM4|nemaline myopathy 4, autosomal dominant|nemaline myopathy 4|nemaline myopathy caused by mutation in TPM2|NEM4|Cap myopathy 2 MONDO:0000267 obsolete cryptogenic organizing pneumonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000267 MONDO:0000266 pulmonary aspergilloma biolink:Disease mondo MESH:D055732|UMLS:C2350529|DOID:0050153 A aspergillosis that involves the lung. UMLS:C2350529|MESH:D055732|DOID:0050153 http://purl.obolibrary.org/obo/MONDO_0000266 lung aspergillosis MONDO:0000265 aspiration pneumonia (disease) biolink:Disease mondo MESH:D011015|ICD10:J69.0|SCTID:422588002|HP:0011951|UMLS:C0032290|DOID:0050152|UMLS:C0085740 A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract. UMLS:C0032290|DOID:0050152|UMLS:C0085740|SNOMEDCT:422588002|MESH:D011015 http://purl.obolibrary.org/obo/MONDO_0000265 aspiration Pneumonias|Pneumonias, aspiration|gastric acid aspiration syndrome|syndrome, acid aspiration|Mendelsons syndrome|syndromes, acid aspiration|aspiration pneumonia|Mendelson's syndrome|syndrome, Mendelson|Mendelson syndrome|syndrome, Mendelson's|acid aspiration syndromes|acid aspiration syndrome|inhalation pneumonia MONDO:0000264 obsolete Pontiac fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000264 MONDO:0000269 obsolete inhalation anthrax biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000269 MONDO:0000268 obsolete lymphoid interstitial pneumonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000268 MONDO:0012229 MYP9 biolink:Disease mondo MESH:C563759|OMIM:609258|UMLS:C1836504 MESH:C563759|UMLS:C1836504|http://identifiers.org/omim/609258 http://purl.obolibrary.org/obo/MONDO_0012229 MYP9|myopia 9|myopia 9; MYP9 MONDO:0000263 laryngotracheitis biolink:Disease mondo ICD9:464|SCTID:55130001|DOID:0050148|UMLS:C0023076|ICD10:J04.2|ICD10:J37.1|ICD10:J04|ICD9:464.2|ICD9:476.1 An inflammation of both larynx and trachea. DOID:0050148|SNOMEDCT:55130001|UMLS:C0023076 http://purl.obolibrary.org/obo/MONDO_0000263 MONDO:0000262 otomycosis biolink:Disease mondo MESH:D059249|UMLS:C0029895|DOID:0050147|SCTID:53316003|ICD9:111.8 Fungus infection of the external ear, usually by aspergillus species DOID:0050147|SNOMEDCT:53316003|MESH:D059249|UMLS:C0029895 http://purl.obolibrary.org/obo/MONDO_0000262 Singapore ear|otitis mycotic externa|external ear fungal infectious disease MONDO:0000261 adenoiditis biolink:Disease mondo ICD10:J35.02|DOID:0050145|UMLS:C0001427|ICD9:474.01|COHD:439851|UMLS:C0396023|SCTID:70020005 An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil. UMLS:C0001427|DOID:0050145|UMLS:C0396023|SNOMEDCT:70020005 http://purl.obolibrary.org/obo/MONDO_0000261 inflammation of pharyngeal tonsil|pharyngeal tonsil inflammation|pharyngeal tonsilitis|chronic adenoiditis MONDO:0000260 obsolete Kartagener syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000260 MONDO:0014897 portal hypertension, noncirrhotic biolink:Disease mondo UMLS:C4310735|OMIM:617068 UMLS:C4310735|http://identifiers.org/omim/617068 http://purl.obolibrary.org/obo/MONDO_0014897 NCPH|portal hypertension, noncirrhotic|portal hypertension, noncirrhotic; NCPH|NCPH MONDO:0012234 obsolete LFS3 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012234 MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 biolink:Disease mondo OMIM:609270|ICD10:G11.1|MESH:C563753|DOID:0080059|UMLS:C1836474|Orphanet:284324|GARD:0012232 Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner. MESH:C563753|http://identifiers.org/omim/609270|DOID:0080059|ORPHA:284324|UMLS:C1836474 http://purl.obolibrary.org/obo/MONDO_0012235 childhood onset autosomal recessive slowly progressive spinocerebellar ataxia|autosomal recessive spinocerebellar ataxia type 7|childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia|spinocerebellar ataxia, autosomal recessive 7; SCAR7|spinocerebellar ataxia, autosomal recessive type 7|spinocerebellar ataxia autosomal recessive 7|SCAR7|spinocerebellar ataxia, autosomal recessive 7 gard_rare|ordo_disease MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome biolink:Disease mondo Orphanet:486815|OMIM:617066|UMLS:C4310736 ORPHA:486815|UMLS:C4310736|http://identifiers.org/omim/617066 http://purl.obolibrary.org/obo/MONDO_0014896 muscular dystrophy, congenital, Davignon-Chauveau type|muscular dystrophy, congenital, Davignon-Chauveau type; MDCDC|MDCDC|congenital muscular dystrophy, Davignon-Chauveau type ordo_disease MONDO:0012232 stuttering, familial persistent, 2 biolink:Disease mondo MESH:C563756|OMIM:609261|UMLS:C1836484 http://identifiers.org/omim/609261|MESH:C563756|UMLS:C1836484 http://purl.obolibrary.org/obo/MONDO_0012232 stuttering, familial persistent, 2|STUT2|stuttering, familial persistent, 2; STUT2 MONDO:0014895 developmental and epileptic encephalopathy, 40 biolink:Disease mondo OMIM:617065|UMLS:C4310737 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene. UMLS:C4310737|http://identifiers.org/omim/617065 http://purl.obolibrary.org/obo/MONDO_0014895 epileptic encephalopathy, early infantile, 40; EIEE40|EIEE40|DEE40|epileptic encephalopathy, early infantile, 40|early infantile epileptic encephalopathy caused by mutation in GUF1|GUF1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 40 MONDO:0012233 Li-Fraumeni syndrome 2 biolink:Disease mondo UMLS:C1836482|MESH:C563755|OMIM:609265 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene. http://identifiers.org/omim/609265|MESH:C563755|UMLS:C1836482 http://purl.obolibrary.org/obo/MONDO_0012233 Li-Fraumeni syndrome type 2|LFS2|CHEK2 Li-Fraumeni syndrome|Li-Fraumeni syndrome 2|Li-Fraumeni syndrome 2; LFS2|Li-Fraumeni syndrome caused by mutation in CHEK2 clingen MONDO:0014894 Meier-Gorlin syndrome 7 biolink:Disease mondo OMIM:617063|UMLS:C4310738 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene. UMLS:C4310738|http://identifiers.org/omim/617063 http://purl.obolibrary.org/obo/MONDO_0014894 Meier-Gorlin syndrome caused by mutation in CDC45|MGORS7|Meier-Gorlin syndrome type 7|Meier-Gorlin syndrome 7; MGORS7|Meier-Gorlin syndrome 7|CDC45 Meier-Gorlin syndrome MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 biolink:Disease mondo UMLS:C1836460|MESH:C563750|OMIM:609283 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene. UMLS:C1836460|MESH:C563750|http://identifiers.org/omim/609283 http://purl.obolibrary.org/obo/MONDO_0012238 SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2; PEOA2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2|PEOA2|progressive external ophthalmoplegia, autosomal dominant 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:0012239 nemaline myopathy 1 biolink:Disease mondo OMIM:609284|UMLS:C1836448|DOID:0110926|MESH:C538348 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene. DOID:0110926|UMLS:C1836448|http://identifiers.org/omim/609284|MESH:C538348 http://purl.obolibrary.org/obo/MONDO_0012239 nemaline myopathy type 1|nemaline myopathy 1; NEM1|nemaline myopathy 1|nemaline myopathy caused by mutation in TPM3|Cap myopathy 1|nemaline myopathy 1, autosomal dominant or recessive|Nem1|TPM3 nemaline myopathy MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency biolink:Disease mondo Orphanet:329314|UMLS:C4310733|OMIM:617070|ICD10:G71.3|SCTID:733599009 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. UMLS:C4310733|ORPHA:329314|http://identifiers.org/omim/617070|SNOMEDCT:733599009 http://purl.obolibrary.org/obo/MONDO_0014899 adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; PEOB4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4|PEOB4|progressive external ophthalmoplegia, autosomal recessive 4 ordo_disease MONDO:0012236 KTCN4 biolink:Disease mondo MESH:C563752|OMIM:609271|UMLS:C1836473 UMLS:C1836473|MESH:C563752|http://identifiers.org/omim/609271 http://purl.obolibrary.org/obo/MONDO_0012236 keratoconus 4; KTCN4|keratoconus 4|KTCN4 MONDO:0012237 nemaline myopathy 6 biolink:Disease mondo MESH:C538398|OMIM:609273|DOID:0110935|UMLS:C1836472 Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene. UMLS:C1836472|DOID:0110935|http://identifiers.org/omim/609273|MESH:C538398 http://purl.obolibrary.org/obo/MONDO_0012237 nemaline myopathy caused by mutation in KBTBD13|nemaline myopathy 6, autosomal dominant|NEM6|nemaline myopathy 6; NEM6|nemaline myopathy type 6|KBTBD13 nemaline myopathy|nemaline myopathy 6 MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 biolink:Disease mondo OMIM:617069|UMLS:C4310734 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene. UMLS:C4310734|http://identifiers.org/omim/617069 http://purl.obolibrary.org/obo/MONDO_0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2|progressive external ophthalmoplegia, autosomal recessive 3|PEOB3|TK2 autosomal recessive progressive external ophthalmoplegia HGNC:13210 ARL6 biolink:OntologyClass mondo http://identifiers.org/hgnc/13210 HGNC:13211 ATP2C1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13211 MONDO:0014893 Okur-Chung neurodevelopmental syndrome biolink:Disease mondo OMIM:617062|UMLS:C4310739 UMLS:C4310739|http://identifiers.org/omim/617062 http://purl.obolibrary.org/obo/MONDO_0014893 Okur-Chung neurodevelopmental syndrome|Okur-Chung neurodevelopmental syndrome; OCNDS|OCNDS MONDO:0012230 MYP10 biolink:Disease mondo UMLS:C1836503|OMIM:609259|MESH:C563758 http://identifiers.org/omim/609259|MESH:C563758|UMLS:C1836503 http://purl.obolibrary.org/obo/MONDO_0012230 myopia 10|myopia 10; MYP10|MYP10 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 biolink:Disease mondo Orphanet:99947|DOID:0110155|MESH:C563757|UMLS:C1836485|SCTID:764850002|NCIT:C150646|OMIM:609260|ICD10:G60.0 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. http://identifiers.org/omim/609260|ORPHA:99947|NCIT:C150646|DOID:0110155|SNOMEDCT:764850002|MESH:C563757|UMLS:C1836485 http://purl.obolibrary.org/obo/MONDO_0012231 Charcot-Marie-Tooth neuropathy, type 2A2|autosomal dominant Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2A2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A|HMSN IIA2|MFN2 Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy IIa2|Charcot-Marie-Tooth neuropathy type 2A2|CMT2A2A|Charcot-Marie-Tooth disease, axonal, type 2A2; CMT2A2|hereditary motor and sensory neuropathy IIA2|Charcot-Marie-Tooth disease, neuronal, type 2A2|Charcot-Marie-Tooth disease, axonal, type 2A2|Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2|Charcot-Marie-Tooth neuronal type 2A2|autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2|CMT2A2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A; CMT2A2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2|HMSN2A2|HMSN IIa2 ordo_disease MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome biolink:Disease mondo OMIM:617061|UMLS:C4310740|Orphanet:476126|DOID:0070074 UMLS:C4310740|ORPHA:476126|http://identifiers.org/omim/617061|DOID:0070074 http://purl.obolibrary.org/obo/MONDO_0014892 mercer-Ba syndrome|autosomal dominant mental retardation 44|autosomal dominant intellectual disability 44|intellectual disability, autosomal dominant 44; MRD44|intellectual disability, autosomal dominant 44|autosomal dominant non-syndromic intellectual disability 44|MRD44|mental retardation, autosomal dominant 44|MEBAS|mental retardation, autosomal dominant 44; MRD44 ordo_malformation_syndrome MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 biolink:Disease mondo UMLS:C4310741|OMIM:617056 Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. UMLS:C4310741|http://identifiers.org/omim/617056 http://purl.obolibrary.org/obo/MONDO_0014891 SEC61A1-related autosomal dominant tubulointerstitial kidney disease|SEC61A1 familial juvenile hyperuricemic nephropathy|hyperuricemic NEPHROPATHY, familial juvenile, 4; HNFJ4|HNFJ4|familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1|ADTKD-SEC61A1|hyperuricemic nephropathy, familial juvenile, type 4|hyperuricemic nephropathy, familial juvenile, 4 MONDO:0014890 PERCHING syndrome biolink:Disease mondo UMLS:C4310742|DOID:0080331|OMIM:617055 Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene. UMLS:C4310742|DOID:0080331|http://identifiers.org/omim/617055 http://purl.obolibrary.org/obo/MONDO_0014890 PERCHING|Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations; and facial Gestalt/grimacing and Genitourinary abnormalities|CRISPONI/cold-induced sweating syndrome 3; CISS3|CISS3|KLHL7 cold-induced sweating syndrome|cold-induced sweating syndrome type 3|cold-induced sweating syndrome caused by mutation in KLHL7|cold-induced sweating syndrome 3|Crisponi/cold-induced sweating syndrome 3 MONDO:0024289 obsolete disorder of bilirubin metabolism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024289 MONDO:0024288 hyperbilirubinemia biolink:Disease mondo SCTID:14783006|UMLS:C0020433 A disease characterized by elevated level of the pigment bilirubin in the blood. SNOMEDCT:14783006|UMLS:C0020433 http://purl.obolibrary.org/obo/MONDO_0024288 bilirubinemia|hyperbilirubinemia MONDO:0024281 juvenile chronic polyarthritis biolink:Disease mondo NCIT:C26979 A group of conditions used to describe polyarthritis occurring in children. NCIT:C26979 http://purl.obolibrary.org/obo/MONDO_0024281 juvenile chronic polyarthritis MONDO:0024280 polyarticular arthritis biolink:Disease mondo NCIT:C26996|SCTID:416956002 An arthritis affecting five or more separate joints. NCIT:C26996|SNOMEDCT:416956002 http://purl.obolibrary.org/obo/MONDO_0024280 polyarticular arthritis|polyarthritis HP:0033127 Abnormality of the musculoskeletal system biolink:PhenotypicFeature mondo An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. http://purl.obolibrary.org/obo/HP_0033127 MONDO:0024283 Demodex folliculitis biolink:Disease mondo SCTID:240894003|UMLS:C0392666|ICD9:133.8|ICD9:704.8 A demodicidosis that involves the hair follicle. SNOMEDCT:240894003|UMLS:C0392666 http://purl.obolibrary.org/obo/MONDO_0024283 hair follicle demodicidosis MONDO:0024282 mucinous ovarian cancer biolink:Disease mondo NCIT:C40033|ONCOTREE:MOV|UMLS:C1518233 An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma. UMLS:C1518233|NCIT:C40033 http://purl.obolibrary.org/obo/MONDO_0024282 malignant ovarian mucinous tumor|ovarian mucinous neoplasm, malignant|malignant ovarian mucinous neoplasm MONDO:0024285 epsilon-heavy chain disease biolink:Disease mondo UMLS:C0272254|ICD9:273.2|SCTID:60620005 UMLS:C0272254|SNOMEDCT:60620005 http://purl.obolibrary.org/obo/MONDO_0024285 IgE heavy chain disease MONDO:0024284 demodicidosis of sebaceous gland biolink:Disease mondo A demodicidosis that involves the sebaceous gland. http://purl.obolibrary.org/obo/MONDO_0024284 sebaceous gland demodicidosis MONDO:0024287 congenital vascular malformation biolink:Disease mondo NCIT:C112117 A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels. NCIT:C112117 http://purl.obolibrary.org/obo/MONDO_0024287 vascular malformation|congenital vascular malformation MONDO:0024286 benign blood vessel neoplasm biolink:Disease mondo UMLS:C0685121|NCIT:C8537 A benign neoplasm arising from arteries or veins. UMLS:C0685121|NCIT:C8537 http://purl.obolibrary.org/obo/MONDO_0024286 benign blood vessel tumor|benign blood vessel neoplasm HGNC:15844 HPS4 biolink:OntologyClass mondo http://identifiers.org/hgnc/15844 HGNC:15840 KMT2B biolink:OntologyClass mondo http://identifiers.org/hgnc/15840 MONDO:0024278 proctocolitis biolink:Disease mondo SCTID:418130002|UMLS:C0033247|NCIT:C77952 Inflammation of the rectum and colon. NCIT:C77952|SNOMEDCT:418130002|UMLS:C0033247 http://purl.obolibrary.org/obo/MONDO_0024278 proctocolitis|colorectum inflammation|inflammation of colorectum MONDO:0024277 neonatal thrombocytopenia biolink:Disease mondo SCTID:82835005|MESH:D054098 SNOMEDCT:82835005|MESH:D054098 http://purl.obolibrary.org/obo/MONDO_0024277 neonatal purpura|purpura of newborn|neonatal thrombocytopenia GO:0000098 sulfur amino acid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine. http://purl.obolibrary.org/obo/GO_0000098 sulfur amino acid breakdown|sulphur amino acid catabolism|sulphur amino acid catabolic process|sulfur amino acid degradation|sulfur amino acid catabolism MONDO:0024279 chronic endometritis biolink:Disease mondo SCTID:63922003|NCIT:C102820|UMLS:C0238104 A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding. NCIT:C102820|UMLS:C0238104|SNOMEDCT:63922003 http://purl.obolibrary.org/obo/MONDO_0024279 chronic endometritis|endometritis, chronic GO:0051604 protein maturation biolink:OntologyClass mondo Any process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/GO_0051604 ENVO:01001795 ecosystem process biolink:OntologyClass mondo An environmental process either driven by or primarily impacting the parts or emergent properties of an ecosystem. http://purl.obolibrary.org/obo/ENVO_01001795 MONDO:0024270 parasitic intestinal disease biolink:Disease mondo UMLS:C0021832|MESH:D007411 Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. UMLS:C0021832|MESH:D007411 http://purl.obolibrary.org/obo/MONDO_0024270 intestinal disease, parasitic|parasitic intestinal disease|disease, parasitic intestinal|intestine parasitic infection|diseases, parasitic intestinal|parasitic intestinal diseases GO:0051608 histamine transport biolink:OntologyClass mondo The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. http://purl.obolibrary.org/obo/GO_0051608 GO:0051606 detection of stimulus biolink:OntologyClass mondo The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal. http://purl.obolibrary.org/obo/GO_0051606 stimulus sensing|stimulus detection|perception of stimulus MONDO:0024271 intestinal helminthiasis biolink:Disease mondo UMLS:C0348287|SCTID:26249004|MESH:C531698 A parasitic helminthiasis infectious disease that involves the intestine. UMLS:C0348287|MESH:C531698|SNOMEDCT:26249004 http://purl.obolibrary.org/obo/MONDO_0024271 intestine parasitic helminthiasis infectious disease GO:0000096 sulfur amino acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolism|sulphur amino acid metabolic process|sulphur amino acid metabolism MONDO:0024276 glandular cell neoplasm biolink:Disease mondo NCIT:C7132|HP:0031493|UMLS:C1333820 NCIT:C7132|UMLS:C1333820 http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm|glandular cell epithelium neoplasm|glandular cell tumor|glandular cell epithelial neoplasm MONDO:0024275 amebic dysentery biolink:Disease mondo GARD:0000652|NCIT:C34558|MESH:D004404 Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites. MESH:D004404|NCIT:C34558 http://purl.obolibrary.org/obo/MONDO_0024275 colitis, amebic|Amebiases, intestinal|Colitides, amebic|amoebiasis due to Entamoeba histolytica|entamoebiasis, intestinal|intestinal Entamoebiases|dysenteries, amoebic|amoebic dysentery|amebic colitis|amebic colitides|amebiasis, intestinal|intestinal Amebiases|amoebic dysentery due to Entamoeba histolytica|intestinal entamoebiasis|dysentery, amoebic|amoebic dysenteries|amebic dysentery|amoebiases, intestinal|dysenteries, amebic|Colitides, amoebic|intestinal Amoebiases|colitis, amoebic|intestinal amebiasis|amoebiasis, intestinal|amebic dysenteries|amoebic colitis|Entamoebiases, intestinal|intestinal amoebiasis|amoebic Colitides gard_rare MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects biolink:Disease mondo GARD:0010354|UMLS:C1836007|OMIM:609545|MESH:C563701 UMLS:C1836007|MESH:C563701|http://identifiers.org/omim/609545 http://purl.obolibrary.org/obo/MONDO_0012298 Gershoni-Baruch syndrome|omphalocele, diaphragmatic hernia, and radial ray defects MONDO:0012299 nanophthalmos 2 biolink:Disease mondo OMIM:609549|UMLS:C1836006|MESH:C563700 Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene. UMLS:C1836006|MESH:C563700|http://identifiers.org/omim/609549 http://purl.obolibrary.org/obo/MONDO_0012299 nanophthalmos, autosomal recessive|MFRP nanophthalmia|nanophthalmos 2; NNO2|NNO2|nanophthalmos type 2|Nanophthalmia 2|nanophthalmia caused by mutation in MFRP|nanophthalmos 2 HGNC:15853 ARFGEF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15853 MONDO:0012292 hepatitis c virus, susceptibility to biolink:Disease mondo UMLS:C2750389|OMIM:609532 UMLS:C2750389|http://identifiers.org/omim/609532 http://purl.obolibrary.org/obo/MONDO_0012292 Hepatitis C Virus infection, response to therapy of|hepatitis c virus, susceptibility to|Hepatitis C Virus, resistance to|HCV, resistance to|HCV, susceptibility to predisposition MONDO:0012293 autosomal recessive nonsyndromic deafness 23 biolink:Disease mondo ICD10:H90.3|UMLS:C1836027|MESH:C563705|DOID:0110481|OMIM:609533 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene. DOID:0110481|UMLS:C1836027|MESH:C563705|http://identifiers.org/omim/609533 http://purl.obolibrary.org/obo/MONDO_0012293 deafness, autosomal recessive 23; DFNB23|autosomal recessive deafness 23|autosomal recessive nonsyndromic deafness type 23|deafness, autosomal recessive 23|DFNB23|autosomal recessive nonsyndromic deafness caused by mutation in PCDH15|PCDH15 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 23 MONDO:0012290 CEDNIK syndrome biolink:Disease mondo ICD10:Q82.8|OMIM:609528|MESH:C537943|UMLS:C1836033|Orphanet:66631|GARD:0009940|DOID:0060337|SCTID:722385008 CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. UMLS:C1836033|DOID:0060337|ORPHA:66631|SNOMEDCT:722385008|http://identifiers.org/omim/609528|MESH:C537943 http://purl.obolibrary.org/obo/MONDO_0012290 cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome|CEDNIK syndrome|cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome ordo_disease MONDO:0012291 immunoglobulin A deficiency 2 biolink:Disease mondo MESH:C536291|OMIM:609529|UMLS:C1836032|GARD:0010198 Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene. UMLS:C1836032|http://identifiers.org/omim/609529|MESH:C536291 http://purl.obolibrary.org/obo/MONDO_0012291 TNFRSF13B selective IgA deficiency disease|IMMUNOGLOBULIN A deficiency 2; IGAD2|IGAD2|selective IgA deficiency disease caused by mutation in TNFRSF13B|Immunoglobulin a deficiency type 2|Immunoglobulin A, selective deficiency of, TACI-related|IgA, selective deficiency of, TACI-related|immunoglobulin a deficiency 2|Immunoglobulin A, selective deficiency of, TACI related|IgA, selective deficiency of, TACI related gard_rare MONDO:0012296 lipomyelomeningocele biolink:Disease mondo ICD9:214.8|OMIM:609537|GARD:0010053|MESH:C537030|Orphanet:268835|UMLS:C1836022|SCTID:104431000119107|ICD10:Q05.9 Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome. SNOMEDCT:104431000119107|UMLS:C1836022|http://identifiers.org/omim/609537|MESH:C537030|ORPHA:268835 http://purl.obolibrary.org/obo/MONDO_0012296 lipomyelomeningocele|familial lipomyelomeningocele ordo_morphological_anomaly|gard_rare MONDO:0012297 SPOAN syndrome biolink:Disease mondo ICD10:G11.4|DOID:0060491|OMIM:609541|MESH:C563702|UMLS:C1836010|Orphanet:320406 A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. UMLS:C1836010|DOID:0060491|MESH:C563702|http://identifiers.org/omim/609541|ORPHA:320406 http://purl.obolibrary.org/obo/MONDO_0012297 SPOAN|spastic paraplegia, optic atropy, and neuropathy syndrome|spastic paraplegia, optic atrophy, and neuropathy|spastic paraplegia-optic atrophy-neuropathy syndrome|spastic paraplegia, optic atrophy, and neuropathy; SPOAN|spastic paraplegia, optic atropy, and neuropathy ordo_disease MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related biolink:Disease mondo OMIM:609535|GARD:0012906|UMLS:C1836023 UMLS:C1836023|http://identifiers.org/omim/609535 http://purl.obolibrary.org/obo/MONDO_0012294 clopidogrel, poor metabolism of|Proguanil, poor metabolism of|Opremazole, poor metabolism of|Omeprazole, poor metabolism of|Mephenytoin, poor metabolism of|drug metabolism, poor, Cyp2C19-related MONDO:0012295 complement component 5 deficiency biolink:Disease mondo OMIM:609536|DOID:8158|UMLS:C0343047|NCIT:C9469|GARD:0006878 A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections. DOID:8158|http://identifiers.org/omim/609536|UMLS:C0343047|NCIT:C9469 http://purl.obolibrary.org/obo/MONDO_0012295 complement component 5 deficiency|complement component 5 deficiency; C5D|complement deficiency caused by mutation in C5|C5D|dysfunction of the fifth component of complement (C5)|C5 complement deficiency|C5 deficiency MONDO:0024267 obsolete epidemic encephalitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024267 MONDO:0000299 thelaziasis biolink:Disease mondo UMLS:C0344058|ICD9:128.8|DOID:0050261|SCTID:46477004 A disease caused by infection with Thelazia. DOID:0050261|SNOMEDCT:46477004|UMLS:C0344058 http://purl.obolibrary.org/obo/MONDO_0000299 conjunctival spirurosis|thelaziasis|thelaziosis|verminous ophthalmia|Thelazia infectious disease|infection by Thelazia|Thelazia caused disease or disorder|infection caused by Thelazia|Thelazia disease or disorder MONDO:0024266 patent ductus arteriosus 3 biolink:Disease mondo OMIM:617039 Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene. http://identifiers.org/omim/617039 http://purl.obolibrary.org/obo/MONDO_0024266 PDA3|patent ductus arteriosus 3; PDA3|patent ductus arteriosus caused by mutation in PRDM6|PRDM6 patent ductus arteriosus MONDO:0000298 dioctophymiasis biolink:Disease mondo SCTID:40410004|UMLS:C0012482|DOID:0050260 A disease caused by infection with Dioctophyme renale. DOID:0050260|SNOMEDCT:40410004|UMLS:C0012482 http://purl.obolibrary.org/obo/MONDO_0000298 Dioctophyme renale infection|dioctophyma renale infection|Dioctophyme renale infectious disease|Dioctophyme renale caused disease or disorder|dioctophymosis|Dioctophyme renale disease or disorder|giant kidney worm disease MONDO:0024269 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024269 MONDO:0024268 superficial mycosis biolink:Disease mondo ICD9:117.9|ICD10:B36.9|DOID:0050133|UMLS:C2980104|SCTID:276206000|COHD:4077081 A mycosis that is limited to the stratum corneum and essentially elicits no inflammation. UMLS:C2980104|DOID:0050133|SNOMEDCT:276206000 http://purl.obolibrary.org/obo/MONDO_0024268 steroid-modified tinea infection|stratum corneum of epidermis fungal infectious disease|piedra MONDO:0000297 baylisascariasis biolink:Disease mondo DOID:0050259|UMLS:C0162626|NCIT:C128397|UMLS:C0277150 An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses. UMLS:C0162626|UMLS:C0277150|DOID:0050259|NCIT:C128397 http://purl.obolibrary.org/obo/MONDO_0000297 Baylisascaris procyonis infectious disease|Baylisascaris procyonis caused disease or disorder|Baylisascaris procyonis disease or disorder|raccoon roundworm infection UBERON:5001466 pedal digit plus metapodial segment biolink:AnatomicalEntity mondo A subdivision of the autopod consisting of pedal digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_5001466 pedal digit|pedal digit digitopodial subdivision|pedal digit ray|pedal digit ( phalanges plus metapodial) plus soft tissue MONDO:0000292 philophthalmiasis biolink:Disease mondo DOID:0050250 A disease caused by infection with Philophthalmus. DOID:0050250 http://purl.obolibrary.org/obo/MONDO_0000292 Philophthalmus disease or disorder|Philophthalmus infectious disease|Philophthalmus caused disease or disorder MONDO:0000291 granulomatous amebic encephalitis biolink:Disease mondo DOID:0050246|SCTID:230187000|GARD:0012651|ICD9:323.2|UMLS:C0338428 Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors. UMLS:C0338428|SNOMEDCT:230187000|DOID:0050246 http://purl.obolibrary.org/obo/MONDO_0000291 Acanthamoeba granulomatous encephalitis|granulomatous amoebic encephalitis|Acanthamoeba encephalitis|granulomatous amebic encephalitis due to Acanthamoeba gard_rare MONDO:0000290 primary amebic meningoencephalitis biolink:Disease mondo DOID:0050242|UMLS:C0300934|MESH:C535275|GARD:0009554|SCTID:721816008|UMLS:C4303098 A infectious disease involving the Naegleria fowleri. MESH:C535275|UMLS:C0300934|SNOMEDCT:721816008|DOID:0050242|UMLS:C4303098 http://purl.obolibrary.org/obo/MONDO_0000290 Naegleria fowleri infection|infections, Naegleria fowleri MONDO:0000296 obsolete angiostrongyliasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000296 MONDO:0024263 neonatal aspiration syndrome biolink:Disease mondo UMLS:C0349468|NCIT:C118312|SCTID:276533002 Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn. UMLS:C0349468|SNOMEDCT:276533002|NCIT:C118312 http://purl.obolibrary.org/obo/MONDO_0024263 MONDO:0000295 acanthocephaliasis biolink:Disease mondo SCTID:105713003|DOID:0050254|UMLS:C0277331 An disease or disorder caused by infection with Acanthocephala. DOID:0050254|UMLS:C0277331|SNOMEDCT:105713003 http://purl.obolibrary.org/obo/MONDO_0000295 infection by Acanthocephala|Acanthocephala disease or disorder|disease caused by Acanthocephala|disease due to Acanthocephala|infection by thorny-headed worm|Acanthocephala infectious disease|Acanthocephala caused disease or disorder MONDO:0024262 massive neonatal aspiration syndrome biolink:Disease mondo SCTID:10269001 SNOMEDCT:10269001 http://purl.obolibrary.org/obo/MONDO_0024262 MONDO:0000294 mesocestoidiasis biolink:Disease mondo UMLS:C0277110|DOID:0050253|UMLS:C0277108|SCTID:85750001 An disease or disorder caused by infection with Mesocestoides. SNOMEDCT:85750001|UMLS:C0277110|UMLS:C0277108|DOID:0050253 http://purl.obolibrary.org/obo/MONDO_0000294 infection caused by Mesocestoides|Mesocestoides disease or disorder|infection by Mesocestoides|Mesocestoides infectious disease|Mesocestoides caused disease or disorder MONDO:0024265 Duane syndrome type 1 biolink:Disease mondo GARD:0010763|SCTID:128082002|OMIM:126800 Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery. SNOMEDCT:128082002|http://identifiers.org/omim/126800 http://purl.obolibrary.org/obo/MONDO_0024265 Duane retraction syndrome 1; DURS1|Duane syndrome|retraction syndrome|Duane anomaly|Drs|DURS1|Duane retraction syndrome 1 gard_rare MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 biolink:Disease mondo DOID:0070124|ICD10:E03.1|OMIM:218700 A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13. DOID:0070124|http://identifiers.org/omim/218700 http://purl.obolibrary.org/obo/MONDO_0024264 thyroid agenesis|thyroid hypoplasia|congenital nongoitrous hypothyroidism 2|resistance to thyrotropin|congenital nongoitrous hypothryoidism 2|CHNG2|hypothyroidism, congenital, due to thyroid dysgenesis|thyrotropin resistance|hypothyroidism, athyreotic|congenital hypothyroidism due to thyroid dysgenesis or hypoplasia|thyroid, ectopic|athyreotic hypothyroidism|hypothyroidism, congenital, nongoitrous, 2; CHNG2|thyroid dysgenesis MONDO:0000293 coenurosis biolink:Disease mondo UMLS:C0009225|ICD9:123.8|DOID:0050251|SCTID:24360007 A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs. SNOMEDCT:24360007|UMLS:C0009225|DOID:0050251 http://purl.obolibrary.org/obo/MONDO_0000293 caenurosis|sturdy|infection by larvae of multiceps|infection by tapeworm larva|coenuriasis|coenurosis MONDO:0012289 myofibrillar myopathy 5 biolink:Disease mondo MESH:C537932|OMIM:609524|DOID:0080096|Orphanet:171445|ICD10:G71.8 Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases. MESH:C537932|ORPHA:171445|http://identifiers.org/omim/609524|DOID:0080096 http://purl.obolibrary.org/obo/MONDO_0012289 myofibrillar myopathy (disease) caused by mutation in FLNC|myopathy, myofibrillar, type 5|filaminopathy|muscle filaminopathy|myopathy, myofibrillar, 5|FLNC myofibrillar myopathy (disease)|myopathy, myofibrillar, 5; MFM5|myopathy, myofibrillar, filamin C-related|myofibrillar myopathy type 5|MFM5|filaminopathy, autosomal dominant ordo_disease MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular biolink:Disease mondo OMIM:609508|UMLS:C1836080 UMLS:C1836080|http://identifiers.org/omim/609508 http://purl.obolibrary.org/obo/MONDO_0012287 rhegmatogenous retinal detachment, autosomal dominant|Stickler syndrome, type I, predominantly ocular|Stickler syndrome, type i, nonsyndromic ocular|Stickler syndrome, atypical MONDO:0012288 iridogoniodysgenesis and skeletal anomalies biolink:Disease mondo GARD:0010058|MESH:C535534|UMLS:C1836074|OMIM:609515 MESH:C535534|UMLS:C1836074|http://identifiers.org/omim/609515 http://purl.obolibrary.org/obo/MONDO_0012288 iridogoniodysgenesis and skeletal anomalies gard_rare MONDO:0012281 obsolete sarcoidosis, early-onset biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012281 MONDO:0012282 Al-Gazali syndrome biolink:Disease mondo GARD:0010054|OMIM:609465|Orphanet:2725|UMLS:C1836121|MESH:C536817 An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. MESH:C536817|UMLS:C1836121|http://identifiers.org/omim/609465|ORPHA:2725 http://purl.obolibrary.org/obo/MONDO_0012282 Al Gazali syndrome|eye defects arachnodactyly cardiopathy|Al Gazali Al Talabani syndrome|Al-Gazali syndrome gard_rare|ordo_malformation_syndrome MONDO:0012280 Goldberg-Shprintzen megacolon syndrome biolink:Disease mondo GARD:0009849|MESH:C537279|SCTID:717822006|DOID:0060481|ICD10:Q87.8|Orphanet:66629|OMIM:609460|UMLS:C1836123 Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. UMLS:C1836123|DOID:0060481|ORPHA:66629|http://identifiers.org/omim/609460|MESH:C537279|SNOMEDCT:717822006 http://purl.obolibrary.org/obo/MONDO_0012280 megacolon-microcephaly syndrome|GOSHS|Goldberg-Shprintzen megacolon syndrome|Goldberg-Shprintzen syndrome; GOSHS|Goldberg-Shprintzen syndrome ordo_malformation_syndrome MONDO:0012285 LVNC2 biolink:Disease mondo OMIM:609470|UMLS:C1836118 UMLS:C1836118|http://identifiers.org/omim/609470 http://purl.obolibrary.org/obo/MONDO_0012285 LVNC2|left ventricular noncompaction 2|left ventricular noncompaction 2; LVNC2 MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset biolink:Disease mondo OMIM:609500 http://identifiers.org/omim/609500 http://purl.obolibrary.org/obo/MONDO_0012286 myopathy, autophagic vacuolar, infantile-onset MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss biolink:Disease mondo GARD:0010063|OMIM:609466|UMLS:C1836120|MESH:C536427 MESH:C536427|UMLS:C1836120|http://identifiers.org/omim/609466 http://purl.obolibrary.org/obo/MONDO_0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss gard_rare MONDO:0012284 nephropathy, progressive, with deafness biolink:Disease mondo UMLS:C1836119|OMIM:609469|MESH:C563713 UMLS:C1836119|MESH:C563713|http://identifiers.org/omim/609469 http://purl.obolibrary.org/obo/MONDO_0012284 Alport/focal segmental glomerulosclerosis-like syndrome|nephropathy, progressive, with deafness|Nede MONDO:0024255 genetic skin disease biolink:Disease mondo SCTID:239001006|MESH:D012873 An instance of skin disease that is caused by a modification of the individual's genome. SNOMEDCT:239001006|MESH:D012873 http://purl.obolibrary.org/obo/MONDO_0024255 diseases, genetic skin|skin disease, genetic|genodermatosis|disease, genetic skin|genetic skin diseases|genetic skin disease MONDO:0024257 hereditary motor neuron disease biolink:Disease mondo Orphanet:98505|SCTID:49793008|UMLS:CN207018 An instance of motor neuron disease that is caused by an inherited modification of the individual's genome. SNOMEDCT:49793008|ORPHA:98505|UMLS:CN207018 http://purl.obolibrary.org/obo/MONDO_0024257 genetic anterior horn cell disease|hereditary motor neuron disease|genetic motor neuron disease ordo_group_of_disorders NCBITaxon:12103 Cardiovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12103 Cardioviruses GO:0000070 mitotic sister chromatid segregation biolink:OntologyClass mondo The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. http://purl.obolibrary.org/obo/GO_0000070 mitotic sister-chromatid adhesion release|mitotic chromosome segregation MONDO:0024250 acute lichenoid pityriasis biolink:Disease mondo SCTID:86487001|ICD9:696.5 SNOMEDCT:86487001 http://purl.obolibrary.org/obo/MONDO_0024250 Mucha-Habermann disease|PLEVA|Mucha Habermann disease|disease, Habermann|mucha-habermann syndrome|Habermann disease|disease, Habermann's|Habermanns disease|mucha-habermann disease|Habermann's disease|parapsoriasis lichenoides et varioliformis acuta|mucha habermann disease|disease, Mucha-Habermann|parapsoriasis varioliformis acuta MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome biolink:Disease mondo Orphanet:488613 ORPHA:488613 http://purl.obolibrary.org/obo/MONDO_0024252 ordo_malformation_syndrome MONDO:0024251 Minamata disease biolink:Disease mondo SCTID:39640004|UMLS:CN200665 A neurological syndrome caused by severe mercury poisoning. UMLS:CN200665|SNOMEDCT:39640004 http://purl.obolibrary.org/obo/MONDO_0024251 Chisso-Minamata disease MONDO:0024254 obsolete vibratory angioedema biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024254 MONDO:0024253 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024253 MONDO:0012278 PSNP2 biolink:Disease mondo UMLS:C1836148|MESH:C563717|OMIM:609454 UMLS:C1836148|MESH:C563717|http://identifiers.org/omim/609454 http://purl.obolibrary.org/obo/MONDO_0012278 PSNP2|supranuclear palsy, progressive, 2|supranuclear palsy, progressive, 2; PSNP2 HGNC:15836 PROKR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15836 MONDO:0012279 congenital muscular dystrophy merosin-positive biolink:Disease mondo DOID:0110638|GARD:0003855|OMIM:609456|MESH:C563716|UMLS:C1836133 The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans. DOID:0110638|UMLS:C1836133|MESH:C563716|http://identifiers.org/omim/609456 http://purl.obolibrary.org/obo/MONDO_0012279 muscular dystrophy, congenital, merosin-POSITIVE gard_rare MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome biolink:Disease mondo UMLS:C1836173|ICD10:G40.3|MESH:C563719|OMIM:609446|Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. ORPHA:79137|UMLS:C1836173|MESH:C563719|http://identifiers.org/omim/609446 http://purl.obolibrary.org/obo/MONDO_0012276 epilepsy, generalized, with paroxysmal dyskinesia|GEPD|PNKD3|paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; PNKD3|generalized epilepsy and paroxysmal dyskinesia|paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy|generalized epilepsy and paroxysmal dyskinesia; GEPD ordo_disease MONDO:0012277 myofibrillar myopathy 4 biolink:Disease mondo MESH:C563718|UMLS:C1836155|ICD10:G71.8|DOID:0080095|Orphanet:98912|GARD:0001886|OMIM:609452 Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. DOID:0080095|ORPHA:98912|UMLS:C1836155|MESH:C563718|http://identifiers.org/omim/609452 http://purl.obolibrary.org/obo/MONDO_0012277 myofibrillar myopathy type 4|late-onset distal myopathy, Markesbery-Griggs type|myopathy, myofibrillar, 4; MFM4|myofibrillar myopathy (disease) caused by mutation in LDB3|MFM4|LDB3 myofibrillar myopathy (disease)|zaspopathy|ZASP-related myofibrillar myopathy|myopathy, myofibrillar, type 4|myopathy, myofibrillar, 4 ordo_disease HGNC:15832 BSCL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15832 CHEBI:75381 EC 1.11.1.* (peroxidases) inhibitor biolink:ChemicalSubstance mondo An EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor that interferes with the action of any of the peroxidases (EC 1.11.1.*). http://purl.obolibrary.org/obo/CHEBI_75381 inhibitors of peroxidases|inhibitor of peroxidases|EC 1.11.1 inhibitor|EC 1.11.1.* (peroxidases) inhibitors|EC 1.11.1.* inhibitors|EC 1.11.1.* (peroxidase) inhibitor|peroxidases inhibitors|EC 1.11.1.* (peroxidase) inhibitors|EC 1.11.1.* inhibitor|EC 1.11.1 inhibitors MONDO:0012270 Tukel syndrome biolink:Disease mondo GARD:0009814|OMIM:609428|UMLS:C1836217 UMLS:C1836217|http://identifiers.org/omim/609428 http://purl.obolibrary.org/obo/MONDO_0012270 Tukel syndrome|fibrosis of extraocular muscles, congenital, 4|fibrosis of extraocular muscles, congenital, with ulnar hand anomalies|congenital extraocular muscle fibrosis with ulnar hand anomalies|Cfeom-U MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction biolink:Disease mondo ICD10:Q70.2|OMIM:609432|ICD10:Q70.0|Orphanet:157801|SCTID:724170007|GARD:0010590|MESH:C563721|UMLS:C1836206 Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly. SNOMEDCT:724170007|UMLS:C1836206|ORPHA:157801|MESH:C563721|http://identifiers.org/omim/609432 http://purl.obolibrary.org/obo/MONDO_0012271 syndactyly, mesoaxial synostotic, with phalangeal reduction; MSSD|syndactyly type 9|syndactyly, mesoaxial synostotic, with phalangeal reduction|syndactyly Malik-Percin type|syndactyly, type 9|syndactyly, Malik-Percin type|syndactyly mesoaxial synostotic with phalangeal reduction|MSSD ordo_morphological_anomaly UBERON:5001463 manual digit 1 plus metapodial segment biolink:AnatomicalEntity mondo A subdivision of the autopod consisting of manual digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_5001463 manual digit 1 digitopodial subdivision|manual digit I plus metapodial segment|manual digit 1|manual digit 1 ray|manual digit 1 ( phalanges plus metapodial) plus soft tissue MONDO:0012274 acromesomelic dysplasia, Demirhan type biolink:Disease mondo GARD:0010077|OMIM:609441|MESH:C537913 MESH:C537913|http://identifiers.org/omim/609441 http://purl.obolibrary.org/obo/MONDO_0012274 chondrodysplasia, acromesomelic, with or without genital anomalies|acromesomelic dysplasia, DEMIRHAN type; AMDD|acromesomelic dysplasia, Demirhan type|AMDD|chondrodysplasia acromesomelic with genital anomalies gard_rare MONDO:0012275 fetal valproate syndrome biolink:Disease mondo MESH:C536525|GARD:0005447|DOID:0060471|UMLS:C0236026|ICD9:759.89|NCIT:C98930|OMIM:609442|ICD10:Q86.8|Orphanet:1906|MedDRA:10016524|SCTID:17231009 Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). MESH:C536525|ORPHA:1906|MEDDRA:10016524|DOID:0060471|SNOMEDCT:17231009|NCIT:C98930|http://identifiers.org/omim/609442|UMLS:C0236026 http://purl.obolibrary.org/obo/MONDO_0012275 fetal valproate syndrome|valproate embryopathy, susceptibility to|FVS|valproic acid embryopathy|susceptibility to valproate embryopathy|fetal valproic acid syndrome gard_rare|ordo_malformation_syndrome MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block biolink:Disease mondo OMIM:609438|GARD:0010064|MESH:C537452|UMLS:C1836202 UMLS:C1836202|http://identifiers.org/omim/609438|MESH:C537452 http://purl.obolibrary.org/obo/MONDO_0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block|mental retardation, keratoconus, febrile seizures, and sinoatrial block gard_rare MONDO:0012273 autosomal recessive nonsyndromic deafness 48 biolink:Disease mondo UMLS:C1836199|DOID:0110505|ICD10:H90.3|MESH:C563720|OMIM:609439 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene. DOID:0110505|UMLS:C1836199|MESH:C563720|http://identifiers.org/omim/609439 http://purl.obolibrary.org/obo/MONDO_0012273 DFNB48|deafness, autosomal recessive 48; DFNB48|CIB2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 48|deafness, autosomal recessive type 48|deafness, autosomal recessive 48|autosomal recessive deafness 48|autosomal recessive nonsyndromic deafness caused by mutation in CIB2 MONDO:0002732 lung benign neoplasm biolink:Disease mondo DOID:3683|NCIT:C4454 A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma. DOID:3683|NCIT:C4454 http://purl.obolibrary.org/obo/MONDO_0002732 tumor of the lung|benign tumor of lung|benign tumor of the lung|lung benign neoplasm|benign neoplasm of lung|benign lung tumor|benign neoplasm of the lung|benign lung neoplasm MONDO:0002733 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002733 MONDO:0002734 anal mucinous adenocarcinoma biolink:Disease mondo NCIT:C5606|DOID:3691|UMLS:C1332272 An anal adenocarcinoma characterized by the presence of mucoid stroma formation. DOID:3691|NCIT:C5606|UMLS:C1332272 http://purl.obolibrary.org/obo/MONDO_0002734 anus mucinous adenocarcinoma|anal colloidal adenocarcinoma|mucinous adenocarcinoma of anus|anal mucinous adenocarcinoma|colloidal adenocarcinoma of anus|anal colloid adenocarcinoma|colloidal adenocarcinoma of the anus|mucinous adenocarcinoma of the anus|colloid adenocarcinoma of anus|colloid adenocarcinoma of the anus MONDO:0002735 anal canal adenocarcinoma (disease) biolink:Disease mondo ICD10:C21.1|UMLS:C1332259|Orphanet:424016|NCIT:C7471|DOID:3692|HP:0030439|SCTID:764845008 An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. NCIT:C7471|DOID:3692|SNOMEDCT:764845008|ORPHA:424016|UMLS:C1332259 http://purl.obolibrary.org/obo/MONDO_0002735 adenocarcinoma arising in the anal mucosa|adenocarcinoma arising in anal mucosa|anal canal adenocarcinoma|adenocarcinoma of anal canal|adenocarcinoma of the anal canal ordo_disease NCBITaxon:36362 Polyomavirus sp. organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_36362 Polyomavirus|Polyomaviruses MONDO:0002730 childhood kidney neoplasm biolink:Disease mondo NCIT:C6563|DOID:3675|UMLS:C1333003 A kidney neoplasm that occurs during childhood. DOID:3675|NCIT:C6563|UMLS:C1333003 http://purl.obolibrary.org/obo/MONDO_0002730 childhood renal tumor|pediatric kidney tumor|kidney neoplasm|pediatric kidney neoplasm|childhood renal neoplasm|kidney neoplasm of childhood|childhood kidney neoplasm|childhood kidney tumor|pediatric kidney neoplasm|pediatric renal tumor|pediatric renal neoplasm MONDO:0002731 cerebral hemisphere cancer biolink:Disease mondo COHD:4091490|DOID:368|ICD9:191.8|NCIT:C4577|SCTID:429033009 A cancer that involves the cerebral hemisphere. NCIT:C4577|SNOMEDCT:429033009|DOID:368 http://purl.obolibrary.org/obo/MONDO_0002731 cerebrum cancer|malignant cerebral neoplasm|malignant neoplasm of cerebral hemisphere|neoplasm of cerebrum|telencephalon cancer|malignant tumor of cerebrum|tumor of cerebrum|malignant tumor of cerebral hemispheres|malignant cerebral hemisphere neoplasm|malignant tumor of the cerebral hemispheres|malignant tumor of the cerebrum|malignant telencephalon neoplasm|malignant cerebral tumor|cancer of telencephalon|malignant neoplasm of cerebrum|cancer of cerebral hemisphere|malignant neoplasm of cerebral hemispheres|malignant neoplasm of the cerebral hemispheres|malignant neoplasm of the cerebrum|malignant cerebral hemispheric neoplasm|cerebral cancer|malignant cerebral hemispheric tumor|malignant neoplasm of telencephalon CHEBI:28965 dicarboxylic acid dianion biolink:ChemicalSubstance mondo A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid. http://purl.obolibrary.org/obo/CHEBI_28965 a dicarboxylate|dicarboxylate|dicarboxylates|dicarboxylic acid dianion|dicarboxylic acid dianions MONDO:0014718 developmental and epileptic encephalopathy, 34 biolink:Disease mondo UMLS:C4225257|OMIM:616645 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene. UMLS:C4225257|http://identifiers.org/omim/616645 http://purl.obolibrary.org/obo/MONDO_0014718 DEE34|epileptic encephalopathy, early infantile, 34|SLC12A5 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 34|EIEE34|early infantile epileptic encephalopathy caused by mutation in SLC12A5|epileptic encephalopathy, early infantile, 34; EIEE34 MONDO:0014717 early-onset Lafora body disease biolink:Disease mondo Orphanet:324290|UMLS:C4225258|OMIM:616640|SCTID:733082001|UMLS:C4518574|ICD10:G40.3 Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. SNOMEDCT:733082001|UMLS:C4225258|http://identifiers.org/omim/616640|ORPHA:324290|UMLS:C4518574 http://purl.obolibrary.org/obo/MONDO_0014717 epilepsy, progressive myoclonic, 10|epilepsy, progressive myoclonic, type 10|EPM10|epilepsy, progressive myoclonic, 10; EPM10 ordo_disease MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome biolink:Disease mondo UMLS:C4225259|EFO:0009050|Orphanet:457485|OMIM:616638 UMLS:C4225259|ORPHA:457485|http://identifiers.org/omim/616638 http://purl.obolibrary.org/obo/MONDO_0014716 SMITH-Kingsmore syndrome; SKS|macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism|macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism|SKS|MINDS syndrome|Smith-Kingsmore syndrome ordo_malformation_syndrome GO:0097194 execution phase of apoptosis biolink:OntologyClass mondo A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/GO_0097194 apoptosis|execution phase of apoptotic process UBERON:0035322 right common iliac artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035322 trunk of right common iliac arterial tree MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection biolink:Disease mondo ICD10:D84.8|Orphanet:431166|UMLS:C4225260|OMIM:616636 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. UMLS:C4225260|http://identifiers.org/omim/616636|ORPHA:431166 http://purl.obolibrary.org/obo/MONDO_0014715 IMD44|immunodeficiency type 44|immunodeficiency 44; IMD44|immunodeficiency 44|primary immunodeficiency with post-MMR vaccine viral infection ordo_disease HGNC:15917 PLCB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15917 GO:0097190 apoptotic signaling pathway biolink:OntologyClass mondo A series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. http://purl.obolibrary.org/obo/GO_0097190 apoptotic signalling pathway|induction of apoptosis by extracellular signals MONDO:0014719 developmental and epileptic encephalopathy, 35 biolink:Disease mondo ICD10:G40.4|UMLS:C4225256|Orphanet:457375|OMIM:616647 UMLS:C4225256|http://identifiers.org/omim/616647|ORPHA:457375 http://purl.obolibrary.org/obo/MONDO_0014719 ITPA-related encephalopathy|epileptic encephalopathy, early infantile, 35|epileptic encephalopathy, early infantile, 35; EIEE35|epileptic encephalopathy, early infantile, type 35|EIEE35|DEE35 ordo_disease MONDO:0014721 obsolete hereditary spherocytosis type 2 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0014721 HGNC:15924 SALL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/15924 HGNC:6235 KCNC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6235 MONDO:0014720 autosomal dominant optic atrophy plus syndrome biolink:Disease mondo SCTID:715374003|GARD:0005243|ICD10:H47.2|UMLS:C4275164|Orphanet:1215|UMLS:C1852267 Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. SNOMEDCT:715374003|UMLS:C1852267|UMLS:C4275164|UMLS:C1832466|ORPHA:1215 http://purl.obolibrary.org/obo/MONDO_0014720 dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy|optic atrophy - deafness- polyneuropathy - myopathy|Treft-Sanborn-Carey syndrome|optic atrophy-deafness-polyneuropathy-myopathy syndrome|optic atrophy type 8|DOA+ ordo_disease UBERON:0035316 prostatic capsule biolink:AnatomicalEntity mondo The membrane the surrounds the prostate gland. http://purl.obolibrary.org/obo/UBERON_0035316 capsule of prostate gland|capsule of prostate HGNC:15925 SAMHD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15925 MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome biolink:Disease mondo Orphanet:447997|UMLS:C4225254|ICD10:Q02|OMIM:616657 UMLS:C4225254|ORPHA:447997|http://identifiers.org/omim/616657 http://purl.obolibrary.org/obo/MONDO_0014725 spastic tetraplegia, thin corpus callosum, and progressive microcephaly|spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|ASCT1 deficiency|spastic tetraplegia, thin corpus callosum, and progressive microcephaly; SPATCCM|SPATCCM ordo_disease HGNC:6239 KCND3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6239 MONDO:0014724 Joubert syndrome 24 biolink:Disease mondo OMIM:616654|UMLS:C4084841|DOID:0110993 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene. DOID:0110993|UMLS:C4084841|http://identifiers.org/omim/616654 http://purl.obolibrary.org/obo/MONDO_0014724 Joubert syndrome 24; JBTS24|TCTN2 Joubert syndrome|Joubert syndrome caused by mutation in TCTN2|Joubert syndrome type 24|Joubert syndrome 24|JBTS24 GO:0120054 intestinal motility biolink:OntologyClass mondo Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth). http://purl.obolibrary.org/obo/GO_0120054 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome biolink:Disease mondo UMLS:C4225255|OMIM:616652|Orphanet:477817 ORPHA:477817|http://identifiers.org/omim/616652|UMLS:C4225255 http://purl.obolibrary.org/obo/MONDO_0014723 17p11.2p12 microduplication syndrome|trisomy 17p11.2-p12|YUAN-Harel-Lupski syndrome; YUHAL|trisomy 17p11.2p12|Yuan-Harel-Lupski syndrome|dup(17)(p11.2p12)|YUHAL ordo_malformation_syndrome MONDO:0014722 Roifman syndrome biolink:Disease mondo ICD10:Q77.7|OMIM:616651|Orphanet:353298|UMLS:C1846059|GARD:0009163|MESH:C535866 MESH:C535866|http://identifiers.org/omim/616651|ORPHA:353298|UMLS:C1846059 http://purl.obolibrary.org/obo/MONDO_0014722 spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency|RFMN|ROIFMAN syndrome; RFMN|spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|Roifman syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency gard_rare|ordo_disease MONDO:0002729 rhabdoid tumor of the kidney biolink:Disease mondo NCIT:C8715|UMLS:C0854917|DOID:3674|EFO:1000512 A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. NCIT:C8715|DOID:3674|UMLS:C0854917 http://purl.obolibrary.org/obo/MONDO_0002729 rhabdoid neoplasm of the kidney|MRTK|rhabdoid tumor of the kidney (RTK)|rhabdoid tumour of kidney|rhabdoid tumour of the kidney|renal rhabdoid tumor|rhabdoid tumor of the kidney|kidney rhabdoid cancer|malignant rhabdoid tumor of kidney|malignant rhabdoid tumor of the kidney|kidney rhabdoid tumor|renal rhabdoid neoplasm|rhabdoid neoplasm of kidney NCBITaxon:121791 Nipah henipavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_121791 Nipah-virus|Nipah virus FOODON:03311737 processed food product biolink:OntologyClass mondo SUBSET_SIREN:F11737 http://purl.obolibrary.org/obo/FOODON_03311737 "subset_siren" MONDO:0002725 obsolete diffuse cutaneous mastocytosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002725 NCBITaxon:106179 phagocytophilum group organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_106179 phagocytophila group HGNC:6231 KCNB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6231 MONDO:0002726 cutaneous solitary mastocytoma biolink:Disease mondo NCIT:C7138|DOID:3666|MESH:D054705|ICDO:9740/1|EFO:1001844 A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology. NCIT:C7138|MESH:D054705|DOID:3666 http://purl.obolibrary.org/obo/MONDO_0002726 solitary mastocytoma|solitary mastocytoma of skin|solitary mastocytoma of the skin|skin solitary mastocytoma NCBITaxon:106178 canis group organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_106178 MONDO:0002727 olfactory nerve disease biolink:Disease mondo UMLS:C0751937|ICD9:352.0|NCIT:C27210|DOID:367|ICD10:G52.0|COHD:435253|SCTID:68982002|MESH:D020431 A disease involving the olfactory nerve. SNOMEDCT:68982002|DOID:367|NCIT:C27210|UMLS:C0751937|MESH:D020431 http://purl.obolibrary.org/obo/MONDO_0002727 disorder of 1st nerve|disorder of the 1st nerve|olfactory nerve disease or disorder|disease of olfactory nerve|disorder of olfactory [1st] nerve|disorder of olfactory nerve|olfactory nerve disorder|disorder of olfactory nerve|olfactory nerve disease|disease or disorder of olfactory nerve HGNC:8896 PGK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8896 HGNC:6233 KCNC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6233 MONDO:0002728 rhabdoid tumor biolink:Disease mondo Orphanet:69077|ICDO:8963/3|EFO:0005701|ICD10:C49.9|UMLS:C0206743|DOID:3672|NCIT:C3808|GARD:0007572|MESH:D018335|ONCOTREE:MRT An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. NCIT:C3808|ORPHA:69077|UMLS:C0206743|DOID:3672|MESH:D018335 http://purl.obolibrary.org/obo/MONDO_0002728 rhabdoid cancer|malignant rhabdoid tumour|rhabdoid sarcoma|rhabdoid tumor|malignant rhabdoid tumor ordo_disease MONDO:0002743 obsolete prostate colloid adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002743 MONDO:0002744 fallopian tube mucinous adenocarcinoma biolink:Disease mondo UMLS:C1517119|DOID:3704|NCIT:C40103 An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas. DOID:3704|UMLS:C1517119|NCIT:C40103 http://purl.obolibrary.org/obo/MONDO_0002744 fallopian tube mucinous adenocarcinoma MONDO:0002745 fallopian tube mucinous tumor biolink:Disease mondo NCIT:C40109|UMLS:C1517120|DOID:3705 A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. DOID:3705|UMLS:C1517120|NCIT:C40109 http://purl.obolibrary.org/obo/MONDO_0002745 fallopian tube mucinous tumor|fallopian tube mucinous neoplasm MONDO:0002746 fallopian tube adenocarcinoma biolink:Disease mondo DOID:3706|NCIT:C6265|UMLS:C1333590 A carcinoma that arises from glandular epithelial cells of the fallopian tube DOID:3706|NCIT:C6265|UMLS:C1333590 http://purl.obolibrary.org/obo/MONDO_0002746 adenocarcinoma of fallopian tube|fallopian tube adenocarcinoma|adenocarcinoma of the fallopian tube MONDO:0002740 uterine ligament mucinous adenocarcinoma biolink:Disease mondo NCIT:C40137|DOID:3699|UMLS:C1519869 A rare mucinous adenocarcinoma that arises from the uterine ligament. DOID:3699|UMLS:C1519869|NCIT:C40137 http://purl.obolibrary.org/obo/MONDO_0002740 uterine ligament mucinous adenocarcinoma MONDO:0002741 uterine ligament adenocarcinoma biolink:Disease mondo NCIT:C40135|DOID:3700|UMLS:C1519866 A rare adenocarcinoma that arises from the uterine ligament. DOID:3700|UMLS:C1519866|NCIT:C40135 http://purl.obolibrary.org/obo/MONDO_0002741 uterine ligament adenocarcinoma MONDO:0002742 cervical mucinous adenocarcinoma biolink:Disease mondo NCIT:C36095|DOID:3701|UMLS:C1332919 A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin. DOID:3701|NCIT:C36095|UMLS:C1332919 http://purl.obolibrary.org/obo/MONDO_0002742 cervical mucinous adenocarcinoma|uterine cervix mucinous adenocarcinoma|cervical mucinous adenocarcinoma, not otherwise specified|cervical mucinous adenocarcinoma, NOS CHEBI:28976 carbonic acid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_28976 Koehlensaeure|H2CO3|carbonic acid|Carbonic acid|[CO(OH)2]|Dihydrogen carbonate|dihydroxidooxidocarbon MONDO:0014707 14q32 duplication syndrome biolink:Disease mondo UMLS:C4225449|Orphanet:488280|OMIM:616604 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. UMLS:C4225449|ORPHA:488280|http://identifiers.org/omim/616604 http://purl.obolibrary.org/obo/MONDO_0014707 chromosome 14q32 DUPLICATION syndrome, 700-KB|myeloproliferative neoplasms, familial, susceptibility to|dup(14)q(32)|predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication|trisomy 14q32 ordo_disease UBERON:0011342 surface of mandible biolink:AnatomicalEntity mondo A anatomical surface that is part of a mandible. http://purl.obolibrary.org/obo/UBERON_0011342 mandibular surface MONDO:0014706 cutis laxa, autosomal dominant 3 biolink:Disease mondo ICD10:Q82.8|OMIM:616603|UMLS:C4225268|DOID:0070131 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. UMLS:C4225268|http://identifiers.org/omim/616603|DOID:0070131 http://purl.obolibrary.org/obo/MONDO_0014706 cutis laxa, autosomal dominant type 3|cutis laxa, autosomal dominant 3|autosomal dominant cutis laxa 3|cutis laxa, autosomal dominant 3; ADCL3|ADCL3 MONDO:0014705 craniosynostosis 6 biolink:Disease mondo UMLS:C4225269|OMIM:616602 Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene. UMLS:C4225269|http://identifiers.org/omim/616602 http://purl.obolibrary.org/obo/MONDO_0014705 craniosynostosis caused by mutation in ZIC1|craniosynostosis 6; CRS6|CRS6|craniosynostosis type 6|ZIC1 craniosynostosis|craniosynostosis 6 MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome biolink:Disease mondo OMIM:616592|Orphanet:477831|UMLS:C4225270 UMLS:C4225270|ORPHA:477831|http://identifiers.org/omim/616592 http://purl.obolibrary.org/obo/MONDO_0014704 Kosaki overgrowth syndrome|Kosaki overgrowth syndrome; KOGS|KOGS|skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration ordo_malformation_syndrome MONDO:0014709 Heimler syndrome 2 biolink:Disease mondo OMIM:616617|UMLS:C4225267 UMLS:C4225267|http://identifiers.org/omim/616617 http://purl.obolibrary.org/obo/MONDO_0014709 HMLR2|Heimler syndrome type 2|Heimler syndrome 2|peroxisome biogenesis disorder 4C|HEIMLER syndrome 2; HMLR2 MONDO:0014708 ring chromosome 14 biolink:Disease mondo ICD10:Q93.2|UMLS:CN233170|GARD:0006072|MESH:C535487|SCTID:702345009|Orphanet:1440|ICD9:758.89|OMIM:616606 Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. UMLS:C2930916|ORPHA:1440|MESH:C535487|http://identifiers.org/omim/616606|UMLS:CN233170|SNOMEDCT:702345009 http://purl.obolibrary.org/obo/MONDO_0014708 Ring chromosome type 14|chromosome 14 ring|RING chromosome 14 syndrome|Ring 14 gard_rare|ordo_malformation_syndrome MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency biolink:Disease mondo UMLS:C4225266|OMIM:616622|Orphanet:477857 Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene. UMLS:C4225266|ORPHA:477857|http://identifiers.org/omim/616622 http://purl.obolibrary.org/obo/MONDO_0014710 RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|immunodeficiency type 42|IMD42|immunodeficiency 42; IMD42|autosomal recessive primary immunodeficiency due to RORC mutation|immunodeficiency 42|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC|autosomal recessive MSMD due to complete RORgamma receptor defiency ordo_disease|predisposition MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome biolink:Disease mondo OMIM:616632|UMLS:C4225261|Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. UMLS:C4225261|ORPHA:477814|http://identifiers.org/omim/616632 http://purl.obolibrary.org/obo/MONDO_0014714 seizures, cortical blindness, and microcephaly syndrome|seizures, cortical blindness, microcephaly syndrome|seizures, cortical blindness, and microcephaly syndrome; SCBMS|SCBMS ordo_malformation_syndrome MONDO:0014713 porokeratosis 9, multiple types biolink:Disease mondo OMIM:616631|UMLS:C4225262 Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene. UMLS:C4225262|http://identifiers.org/omim/616631 http://purl.obolibrary.org/obo/MONDO_0014713 porokeratosis 9, multiple types; POROK9|POROK9|porokeratosis (disease) caused by mutation in FDPS|FDPS porokeratosis (disease)|porokeratosis 9, multiple types MONDO:0014712 Senior-Loken syndrome 9 biolink:Disease mondo UMLS:C4225263|OMIM:616629 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. UMLS:C4225263|http://identifiers.org/omim/616629 http://purl.obolibrary.org/obo/MONDO_0014712 Senior-Loken syndrome type 9|Senior-Loken syndrome 9|Senior-Loken syndrome 9; SLSN9|Senior-Loken syndrome caused by mutation in TRAF3IP1|SLSN9|TRAF3IP1 Senior-Loken syndrome MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W biolink:Disease mondo UMLS:C4225265|Orphanet:488333|OMIM:616625|DOID:0110162 Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene. UMLS:C4225265|DOID:0110162|ORPHA:488333|http://identifiers.org/omim/616625 http://purl.obolibrary.org/obo/MONDO_0014711 Charcot-Marie-Tooth neuropathy, type 2W|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W|Charcot-Marie-Tooth disease type 2 caused by mutation in HARS|Charcot-Marie-Tooth disease, axonal type 2W|autosomal dominant axonal Charcot-Marie-Tooth disease type 2W|HARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2w|Charcot-Marie-Tooth disease, axonal, type 2W; CMT2W|Charcot-Marie-Tooth neuropathy type 2W|autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation|CMT2W ordo_disease HGNC:6240 KCNE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6240 MONDO:0002736 ampulla of vater mucinous adenocarcinoma biolink:Disease mondo UMLS:C1332248|NCIT:C27416|DOID:3693 A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation. DOID:3693|NCIT:C27416|UMLS:C1332248 http://purl.obolibrary.org/obo/MONDO_0002736 ampulla of Vater mucinous adenocarcinoma|hepatopancreatic ampulla mucinous adenocarcinoma HGNC:6242 KCNE2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6242 MONDO:0002737 acute sanguinous otitis media biolink:Disease mondo COHD:378768|UMLS:C0395865|DOID:3696|SCTID:77478005|ICD9:381.03 A acute transudative otitis media which involves bloody effusion. SNOMEDCT:77478005|DOID:3696|UMLS:C0395865 http://purl.obolibrary.org/obo/MONDO_0002737 HGNC:6243 KCNE3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6243 MONDO:0002738 acute transudative otitis media biolink:Disease mondo ICD9:381.0|DOID:3697|ICD9:381.00|UMLS:C0271432|SCTID:359609001|COHD:374948|UMLS:C2939185 Acute form of non-suppurative otitis media. DOID:3697|UMLS:C2939185|SNOMEDCT:359609001|UMLS:C0271432 http://purl.obolibrary.org/obo/MONDO_0002738 acute transudative otitis media|acute secretory otitis media|acute non-suppurative otitis media|non-suppurative otitis media, acute|acute nonsuppurative otitis media|acute otitis media with effusion MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma biolink:Disease mondo DOID:3698|NCIT:C5846|UMLS:C0861856 An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. UMLS:C0861856|DOID:3698|NCIT:C5846 http://purl.obolibrary.org/obo/MONDO_0002739 colloid bile duct carcinoma|bile duct colloid carcinoma|colloidal adenocarcinoma of extrahepatic bile duct|mucinous carcinoma of the bile duct|colloid carcinoma of the bile duct|colloidal adenocarcinoma of the extrahepatic bile duct|mucinous carcinoma of bile duct|mucinous bile duct adenocarcinoma|colloid carcinoma of bile duct|colloid bile duct adenocarcinoma|colloid adenocarcinoma of the bile duct|colloid adenocarcinoma of bile duct|mucinous adenocarcinoma of the bile duct|mucinous adenocarcinoma of bile duct|bile duct colloidal carcinoma|colloidal bile duct carcinoma|mucinous adenocarcinoma of extrahepatic bile duct|mucinous adenocarcinoma of the extrahepatic bile duct|bile duct mucinous adenocarcinoma|colloid adenocarcinoma of extrahepatic bile duct|colloid extrahepatic bile duct adenocarcinoma|colloid adenocarcinoma of the extrahepatic bile duct|colloidal adenocarcinoma of the bile duct|mucinous extrahepatic bile duct adenocarcinoma|colloidal adenocarcinoma of bile duct|colloidal extrahepatic bile duct adenocarcinoma|colloidal carcinoma of the bile duct|colloidal bile duct adenocarcinoma|extrahepatic bile duct mucinous adenocarcinoma|colloidal carcinoma of bile duct MONDO:0002710 infiltrating angiolipoma biolink:Disease mondo NCIT:C7449|UMLS:C1305256|DOID:3615 An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue. NCIT:C7449|DOID:3615|UMLS:C1305256 http://purl.obolibrary.org/obo/MONDO_0002710 angiolipoma, infiltrating (morphologic abnormality)|angiolipoma, infiltrating|infiltrating angiolipoma MONDO:0002711 obsolete angiolipoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002711 MONDO:0002712 epidural spinal canal angiolipoma biolink:Disease mondo NCIT:C5424|UMLS:C1333416|DOID:3617 An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal. DOID:3617|NCIT:C5424|UMLS:C1333416 http://purl.obolibrary.org/obo/MONDO_0002712 epidural space angiolipoma|angiolipoma of extradural spinal canal|angiolipoma of epidural space|angiolipoma of the extradural spinal canal|angiolipoma of the epidural spinal canal|angiolipoma of epidural spinal canal|extradural spinal canal angiolipoma MONDO:0002713 epidural spinal canal neoplasm biolink:Disease mondo UMLS:C0014536|MESH:D015174|EFO:1000923|DOID:3618|NCIT:C3019 A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord. UMLS:C0014536|DOID:3618|NCIT:C3019|MESH:D015174 http://purl.obolibrary.org/obo/MONDO_0002713 epidural space neoplasm|epidural tumor|neoplasm of the extradural spinal canal|epidural spinal canal neoplasm|extradural spinal neoplasms|neoplasm of extradural spinal canal|extradural spinal canal tumor|extradural neoplasm|neoplasm of the epidural spinal canal|extradural spinal canal neoplasm|epidural spinal neoplasms|tumor of epidural space|neoplasm of epidural spinal canal|epidural spinal canal tumors|epidural spinal canal tumor|epidural neoplasm|extradural spinal canal neoplasms|epidural spinal tumors|tumor of the extradural spinal canal|tumor of extradural spinal canal|extradural spinal tumors|tumor of the epidural spinal canal|extradural tumor|tumor of epidural spinal canal|neoplasm of epidural space|epidural space tumor UBERON:0011332 extrinsic tongue pre-muscle mass biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011332 HGNC:6257 KCNJ11 biolink:OntologyClass mondo http://identifiers.org/hgnc/6257 HGNC:15901 IFT52 biolink:OntologyClass mondo http://identifiers.org/hgnc/15901 HGNC:6259 KCNJ13 biolink:OntologyClass mondo http://identifiers.org/hgnc/6259 MONDO:0014703 Adams-Oliver syndrome 6 biolink:Disease mondo OMIM:616589|UMLS:C4225271 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene. UMLS:C4225271|http://identifiers.org/omim/616589 http://purl.obolibrary.org/obo/MONDO_0014703 Adams-Oliver syndrome type 6|Adams-Oliver syndrome 6|DLL4 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in DLL4|Adams-Oliver syndrome 6; AOS6|AOS6 MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B biolink:Disease mondo DOID:0110825|Orphanet:447760|UMLS:C4225272|ICD10:G11.4|OMIM:616586 Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. UMLS:C4225272|ORPHA:447760|DOID:0110825|http://identifiers.org/omim/616586 http://purl.obolibrary.org/obo/MONDO_0014702 hereditary spastic paraplegia type 9B|spastic paraplegia 9B, autosomal recessive|hereditary spastic paraplegia 9B|autosomal recessive complex spastic paraplegia type 9B|spastic paraplegia 9B, autosomal recessive; SPG9B|ALDH18A1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 9B|AR-SPG9B|autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1|SPG9B ordo_disease CHEBI:16998 D-phenylalanine biolink:ChemicalSubstance mondo The D-enantiomer of phenylalanine. http://purl.obolibrary.org/obo/CHEBI_16998 DPN|D-phenylalanine|D-PHENYLALANINE|D-Phenylalanine|(2R)-2-amino-3-phenylpropanoic acid|phenylalanine D-form|D-alpha-Amino-beta-phenylpropionic acid|D-Phe MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type biolink:Disease mondo Orphanet:459051|OMIM:616583|UMLS:C4225273|ICD10:Q77.7 UMLS:C4225273|ORPHA:459051|http://identifiers.org/omim/616583 http://purl.obolibrary.org/obo/MONDO_0014701 spondyloepiphyseal dysplasia, Stanescu type; SEDSTN|spondyloepiphyseal dysplasia, Stanescu type|SEDSTN|SED, Stanescu type ordo_disease|clingen MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation biolink:Disease mondo UMLS:C4225274|OMIM:616580|UMLS:CN237748|Orphanet:453504 ORPHA:453504|UMLS:C4225274|UMLS:CN237748|http://identifiers.org/omim/616580 http://purl.obolibrary.org/obo/MONDO_0014700 AU-Kline syndrome; AUKS|AU-Kline syndrome|AUKS|Au-Kline syndrome ordo_etiological_subtype MONDO:0002707 breast mucinous carcinoma biolink:Disease mondo ONCOTREE:IMMC|DOID:3610|SCTID:444712000|UMLS:C1334807|NCIT:C9131 An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis. UMLS:C1334807|NCIT:C9131|SNOMEDCT:444712000|DOID:3610 http://purl.obolibrary.org/obo/MONDO_0002707 invasive mucinous breast carcinoma|colloid carcinoma of breast|colloid carcinoma of the breast|mucinous carcinoma of breast|mucinous carcinoma of the breast|infiltrating colloid breast carcinoma|mucinous breast cancer|mucinous breast carcinoma|breast mucinous carcinoma|colloid breast carcinoma|infiltrating mucinous breast carcinoma|invasive colloid breast carcinoma|breast invasive mixed mucinous carcinoma MONDO:0002708 retinitis biolink:Disease mondo MESH:D012173|DOID:3612|SCTID:399463004|UMLS:C0035333|ICD10:H30.9|NCIT:C115993 Inflammation of the retina. MESH:D012173|DOID:3612|NCIT:C115993|UMLS:C0035333|SNOMEDCT:399463004 http://purl.obolibrary.org/obo/MONDO_0002708 inflammation of retina|retina inflammation HP:0011514 Abnormality of binocular vision biolink:PhenotypicFeature mondo UMLS:C4023320 An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. http://purl.obolibrary.org/obo/HP_0011514 HGNC:6250 KCNH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6250 MONDO:0002709 obsolete Kallmann syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002709 HGNC:6251 KCNH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6251 MONDO:0002703 appendix mucinous cystadenocarcinoma biolink:Disease mondo UMLS:C1096639|NCIT:C5511|DOID:3607 An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures. UMLS:C1096639|DOID:3607|NCIT:C5511 http://purl.obolibrary.org/obo/MONDO_0002703 appendix colloid cystadenocarcinoma|colloidal cystadenocarcinoma of appendix|appendiceal colloid cystadenocarcinoma|mucinous cystadenocarcinoma of appendix|vermiform appendix mucinous cystadenocarcinoma|colloid cystadenocarcinoma of appendix|mucinous cystadenocarcinoma of the appendix|colloid cystadenocarcinoma of the appendix|colloidal cystadenocarcinoma of the appendix|appendiceal mucinous cystadenocarcinoma|appendix colloidal cystadenocarcinoma|appendix mucinous cystadenocarcinoma|appendiceal colloidal cystadenocarcinoma MONDO:0002704 obsolete appendix adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002704 HGNC:6255 KCNJ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6255 MONDO:0002705 breast mucinous cystadenocarcinoma biolink:Disease mondo UMLS:C1511318|NCIT:C40354|DOID:3609 An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified. NCIT:C40354|UMLS:C1511318|DOID:3609 http://purl.obolibrary.org/obo/MONDO_0002705 breast mucinous cystadenocarcinoma MONDO:0002706 cervix endometriosis biolink:Disease mondo DOID:361|SCTID:61640006|NCIT:C27623|UMLS:C0269107 Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding. DOID:361|SNOMEDCT:61640006|NCIT:C27623|UMLS:C0269107 http://purl.obolibrary.org/obo/MONDO_0002706 uterine cervix endometriosis (disease)|cervical endometriosis|endometriosis of cervix|endometriosis (disease) of uterine cervix HGNC:6256 KCNJ10 biolink:OntologyClass mondo http://identifiers.org/hgnc/6256 MONDO:0002721 necrosis of pituitary biolink:Disease mondo UMLS:C0271558|NCIT:C27066|DOID:3646|SCTID:59572000 Ischemic or hemorrhagic necrosis of the pituitary gland. DOID:3646|NCIT:C27066|UMLS:C0271558|SNOMEDCT:59572000 http://purl.obolibrary.org/obo/MONDO_0002721 pituitary gland Necrosis|pituitary necrosis MONDO:0002722 olfactory nerve neoplasm biolink:Disease mondo ICD9:239.7|NCIT:C5121|UMLS:C0346319|DOID:366|SCTID:126967000|DOID:8256 Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell. DOID:366|NCIT:C5121|DOID:8256|UMLS:C0346319|SNOMEDCT:126967000 http://purl.obolibrary.org/obo/MONDO_0002722 olfactory nerve neoplasms|neoplasm of the first cranial nerve|neoplasm of first cranial nerve|olfactory neural tumor|first cranial nerve tumor|neoplasm of olfactory nerve|olfactory nerve neoplasm|tumor of the olfactory nerve|olfactory nerve tumor|first cranial nerve neoplasms|tumor of the first cranial nerve|neoplasms, cranial nerve I|olfactory nerve neoplasm (disease)|tumor of first cranial nerve|neoplasm of the olfactory nerve|neoplasms, olfactory nerve|cranial nerve I neoplasms|tumor of olfactory nerve|first cranial nerve neoplasm|olfactory neural neoplasm MONDO:0002723 obsolete cutaneous mastocytosis (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002723 MONDO:0002724 mast cell neoplasm biolink:Disease mondo SCTID:414653009|DOID:3664|ICD9:238.79|NCIT:C9295|ICD10:D47.0|EFO:0009000|UMLS:C0334664 A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001) NCIT:C9295|SNOMEDCT:414653009|DOID:3664|UMLS:C0334664 http://purl.obolibrary.org/obo/MONDO_0002724 tumor of Mast cells|tumor of the Mast cells|Mast cell tumor|mast cell neoplasm|mast cell tumor|neoplasm of Mast cells|neoplasm of the Mast cells|Mast cell proliferative disease|mastocytoma NCBITaxon:36330 Plasmodium ovale organism taxon mondo PMID:20380562|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_36330 malaria parasite P. ovale UBERON:0001997 olfactory epithelium biolink:AnatomicalEntity mondo A sensory epithelium inside the nasal cavity that is responsible for detecting odors[WP]. http://purl.obolibrary.org/obo/UBERON_0001997 nasal cavity olfactory epithelium|MOE|sensory olfactory epithelium|olfactory sensory epithelium|nasal sensory epithelium|nasal epithelium|olfactory membrane|pseudostratified main olfactory epithelium|main olfactory epithelium MONDO:0002720 sella turcica neoplasm biolink:Disease mondo DOID:3643|NCIT:C4944|ONCOTREE:SELT|UMLS:C0748616 A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma. UMLS:C0748616|DOID:3643|NCIT:C4944 http://purl.obolibrary.org/obo/MONDO_0002720 tumor of sella turcica|selt|neoplasm of the sella turcica|neoplasm of sella turcica|sellar neoplasm|sella turcica neoplasm|sella turcica tumor|sellar tumor|tumor of the sella turcica GO:0097186 amelogenesis biolink:OntologyClass mondo The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage. http://purl.obolibrary.org/obo/GO_0097186 enamel development HGNC:15911 NOP56 biolink:OntologyClass mondo http://identifiers.org/hgnc/15911 MONDO:0002718 central nervous system teratoma biolink:Disease mondo Orphanet:252018|UMLS:C1332895|NCIT:C5441|DOID:3640 A mature or immature teratoma that affects the central nervous system. UMLS:C1332895|ORPHA:252018|DOID:3640|NCIT:C5441 http://purl.obolibrary.org/obo/MONDO_0002718 teratoma of the central nervous system|CNS teratoma|teratoma of the CNS|teratoma of central nervous system|teratoma of CNS|central nervous system teratoma ordo_clinical_subtype MONDO:0002719 conus medullaris neoplasm biolink:Disease mondo NCIT:C5443|DOID:3641|UMLS:C1333153 A neoplasm (disease) that involves the conus medullaris. UMLS:C1333153|DOID:3641|NCIT:C5443 http://purl.obolibrary.org/obo/MONDO_0002719 tumor of the conus medullaris|conus medullaris neoplasm|neoplasm of the conus medullaris|conus medullaris neoplasm (disease)|tumor of conus medullaris|neoplasm of conus medullaris|conus medullaris tumor CHEBI:14321 glutamate(1-) biolink:ChemicalSubstance mondo An alpha-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group http://purl.obolibrary.org/obo/CHEBI_14321 glutamate|glutamic acid monoanion|glutamate(1-)|2-ammoniopentanedioate|hydrogen glutamate HGNC:6263 KCNJ2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6263 MONDO:0002714 central nervous system cancer biolink:Disease mondo ICD9:239.7|NCIT:C4627|DOID:3620|EFO:0000326|SCTID:126951006|ICD10:C72.9|MESH:D016543 A malignant neoplasm involving the central nervous system SNOMEDCT:126951006|DOID:3620|NCIT:C4627|MESH:D016543 http://purl.obolibrary.org/obo/MONDO_0002714 malignant neoplasm of central nervous system, NOS|malignant tumor of the CNS|central nervous system tumor|cancer of the CNS|cancer of the central nervous system|malignant central nervous system neoplasm|malignant CNS neoplasm|central nervous system cancer|malignant tumor of central nervous system|malignant tumor of CNS|cancer of CNS|central nervous system tumors|malignant tumor of the central nervous system|malignant neoplasm of central nervous system|neoplasm of central nervous system|malignant neoplasm of the CNS|CNS neoplasm|malignant central nervous system tumor|malignant neoplasm of the central nervous system|CNS cancer|malignant neoplasm of CNS|central nervous system neoplasms, malignant|CNS neoplasms, malignant|malignant CNS tumor|malignant CNS neoplasms|cancer of central nervous system|CNS malignant neoplasms MONDO:0002715 uterine cancer biolink:Disease mondo SCTID:371973000|ICD9:179|NCIT:C3552|COHD:197230|MESH:D014594|ICD10:C55|DOID:363 Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. MESH:D014594|DOID:363|SNOMEDCT:371973000|NCIT:C3552 http://purl.obolibrary.org/obo/MONDO_0002715 uterine cancer, NOS|neoplasm of uterus|malignant uterus neoplasm|malignant neoplasm of the uterus|uterine tumor|malignant uterine tumor|cancer of uterus|CA - cancer of uterus|malignant uterine neoplasm|tumour of uterus|cancer of the uterus|malignant tumor of uterus|malignant tumor of the uterus|uterus cancer|malignant neoplasm of uterus|uterus neoplasm|uterine cancer MONDO:0002716 childhood spinal cord tumor biolink:Disease mondo DOID:3637|UMLS:C1134515|NCIT:C9234 A benign or malignant neoplasm affecting the spinal cord during childhood. UMLS:C1134515|NCIT:C9234|DOID:3637 http://purl.obolibrary.org/obo/MONDO_0002716 pediatric spinal cord neoplasm|childhood spinal cord neoplasm|spinal cord neoplasm of childhood|pediatric spinal cord neoplasm HGNC:6266 KCNJ5 biolink:OntologyClass mondo http://identifiers.org/hgnc/6266 MONDO:0002717 spinal cord intramedullary teratoma biolink:Disease mondo NCIT:C5428|UMLS:C1334259|DOID:3639 DOID:3639|NCIT:C5428|UMLS:C1334259 http://purl.obolibrary.org/obo/MONDO_0002717 intramedullary spinal cord teratoma|intramedullary teratoma of the spinal cord|intramedullary teratoma of spinal cord|intramedullary spinal teratoma HGNC:6267 KCNJ6 biolink:OntologyClass mondo http://identifiers.org/hgnc/6267 MONDO:0002776 external ear disease biolink:Disease mondo ICD10:H60-H62|COHD:133859|ICD9:744.47|UMLS:C0155388|ICD9:380|NCIT:C26972|ICD10:H60.H62|ICD10:H61.9|SCTID:49130001|ICD9:380.9|DOID:379 A disease involving the external ear. NCIT:C26972|DOID:379|SNOMEDCT:49130001|UMLS:C0155388 http://purl.obolibrary.org/obo/MONDO_0002776 external ear disorder|external ear disease or disorder|preauricular cyst|preauricular sinus or fistula NOS (disorder)|disorder of external ear|preauricular cyst (disorder)|preauricular sinus or fistula|disease or disorder of external ear|disease of external ear|disorder of external ear|external ear disease|preauricular sinus and fistula (disorder)|preauricular sinus and fistula MONDO:0000113 obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome biolink:Disease mondo DC:0000490 http://purl.obolibrary.org/obo/MONDO_0000113 MONDO:0000112 obsolete cardioencephalomyopathy, fatal infantile biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000112 MONDO:0002777 obsolete pleural empyema biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002777 MONDO:0002778 epidural spinal canal meningioma biolink:Disease mondo UMLS:C1333417|NCIT:C5310|DOID:3809 A meningioma that arises in the epidural spinal canal space. NCIT:C5310|UMLS:C1333417|DOID:3809 http://purl.obolibrary.org/obo/MONDO_0002778 meningioma of the epidural spinal canal|meningioma of epidural spinal canal MONDO:0000111 camptodactyly syndrome, Guadalajara biolink:Disease mondo DC:0000486 http://purl.obolibrary.org/obo/MONDO_0000111 MONDO:0002779 central nervous system chondroma biolink:Disease mondo NCIT:C7001|DOID:3813|UMLS:C1333019 An extraskeletal chondroma usually arising from the dura. UMLS:C1333019|NCIT:C7001|DOID:3813 http://purl.obolibrary.org/obo/MONDO_0002779 osteochondroma of the CNS|CNS chondroma|osteochondroma of central nervous system|osteochondroma of CNS|osteochondroma of the central nervous system|chondroma of the CNS|chondroma of central nervous system|chondroma of the central nervous system|central nervous system chondroma|central nervous system osteochondroma|CNS osteochondroma|chondroma of CNS MONDO:0000110 bifid nose biolink:Disease mondo ICD10:Q30.2|DC:0000479|GARD:0000884|MESH:C535441|Orphanet:2695|UMLS:CN227089 Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. UMLS:CN227089|ORPHA:2695|MESH:C535441|UMLS:C0221363 http://purl.obolibrary.org/obo/MONDO_0000110 ordo_malformation_syndrome CHEBI:77932 tetracycline zwitterion biolink:ChemicalSubstance mondo A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). http://purl.obolibrary.org/obo/CHEBI_77932 tetracycline|(1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,5,7,11-tetrahydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracen-2-olate MONDO:0002772 intraventricular meningioma biolink:Disease mondo NCIT:C5273|UMLS:C1334271|DOID:3772 A meningioma that affects the ventricles of the brain. UMLS:C1334271|DOID:3772|NCIT:C5273 http://purl.obolibrary.org/obo/MONDO_0002772 meningioma (disease) of brain ventricle|brain ventricle meningioma (disease) MONDO:0000117 obsolete diarrhea, congenital biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000117 MONDO:0000116 obsolete cortical dysplasia, complex, with other brain malformations biolink:Disease mondo DC:0000498 http://purl.obolibrary.org/obo/MONDO_0000116 MONDO:0002773 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002773 CHEBI:77938 barbiturate(1-) biolink:ChemicalSubstance mondo An organic anion obtained by removal of one of the methylene protons from barbituric acid. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). http://purl.obolibrary.org/obo/CHEBI_77938 2,4,6-trioxohexahydropyrimidin-5-ide|barbiturate MONDO:0000115 Chiari malformation biolink:Disease mondo MESH:D001139|SCTID:253184003|NCIT:C84570|DC:0000492 A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. NCIT:C84570|SNOMEDCT:253184003|MESH:D001139 http://purl.obolibrary.org/obo/MONDO_0000115 Arnold-Chiari malformation|(Arnold) Chiari malformation|Chiari malformation MONDO:0002774 obsolete chordoid glioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002774 MONDO:0002775 anovulation biolink:Disease mondo UMLS:C0003128|MESH:D000858|DOID:3781 The absence of ovulation. UMLS:C0003128|NCIT:C34388|MESH:D000858|DOID:3781 http://purl.obolibrary.org/obo/MONDO_0002775 UBERON:0011390 pudendal nerve biolink:AnatomicalEntity mondo The pudendal nerve is a somatic nerve in the pelvic region that innervates the external genitalia of both sexes, as well as sphincters for the bladder and the rectum. It originates in Onuf's nucleus in the sacral region of the spinal cord. http://purl.obolibrary.org/obo/UBERON_0011390 internal pudendal nerve|pudenal nerve|pudendal MONDO:0000114 cerebelloparenchymal disorder biolink:Disease mondo DC:0000491 http://purl.obolibrary.org/obo/MONDO_0000114 MONDO:0002770 vaginal discharge biolink:Disease mondo MESH:D019522|DOID:3767|NCIT:C50795 Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer. NCIT:C50795|MESH:D019522|DOID:3767 http://purl.obolibrary.org/obo/MONDO_0002770 Discharge, vaginal MONDO:0014759 intellectual disability, autosomal recessive 51 biolink:Disease mondo UMLS:C4225220|OMIM:616739 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. http://identifiers.org/omim/616739|UMLS:C4225220 http://purl.obolibrary.org/obo/MONDO_0014759 mental retardation, autosomal recessive 51; MRT51|mental retardation, autosomal recessive type 51|autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT|MRT51|intellectual disability, autosomal recessive 51; MRT51|intellectual disability, autosomal recessive 51|HNMT autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 51|intellectual disability, autosomal recessive type 51|intellectual disability, autosomal recessive 51; MRT51 MONDO:0002771 pulmonary fibrosis biolink:Disease mondo UMLS:C0034069|MESH:D011658|DOID:3770|NCIT:C26869|SCTID:51615001 Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause). NCIT:C26869|MESH:D011658|DOID:3770|UMLS:C0034069|SNOMEDCT:51615001 http://purl.obolibrary.org/obo/MONDO_0002771 fibrosis of lung|pulmonary interstitial fibrosis MONDO:0014765 woolly hair, autosomal recessive 3 biolink:Disease mondo OMIM:616760|UMLS:C4225214 Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene. http://identifiers.org/omim/616760|UMLS:C4225214 http://purl.obolibrary.org/obo/MONDO_0014765 woolly hair, autosomal recessive type 3|ARWH3|woolly hair, autosomal recessive 3, with hypotrichosis|KRT25 woolly hair (disease)|woolly hair, autosomal recessive 3|woolly hair (disease) caused by mutation in KRT25|woolly hair, autosomal recessive 3; ARWH3 MONDO:0012102 GLC1K biolink:Disease mondo OMIM:608696|MESH:C563873|UMLS:C1837527 MESH:C563873|http://identifiers.org/omim/608696|UMLS:C1837527 http://purl.obolibrary.org/obo/MONDO_0012102 glaucoma 1, open angle, K; GLC1K|glaucoma 1, open angle, K|JOAG1K|glaucoma, primary open angle, juvenile-onset, 3|GLC1K MONDO:0012103 spinocerebellar ataxia type 25 biolink:Disease mondo OMIM:608703|Orphanet:101111|ICD10:G11.8|GARD:0009996|SCTID:718770005|MESH:C537202|DOID:0050974|UMLS:C1837518 Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy. ORPHA:101111|SNOMEDCT:718770005|MESH:C537202|http://identifiers.org/omim/608703|DOID:0050974|UMLS:C1837518 http://purl.obolibrary.org/obo/MONDO_0012103 spinocerebellar ataxia 25; SCA25|SCA25|spinocerebellar ataxia 25 ordo_disease MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome biolink:Disease mondo Orphanet:464282|OMIM:616756|UMLS:C4225215 Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. http://identifiers.org/omim/616756|UMLS:C4225215|ORPHA:464282 http://purl.obolibrary.org/obo/MONDO_0014764 SPPRS syndrome|spastic paraplegia and psychomotor retardation with or without seizures; SPPRS|spastic paraplegia and psychomotor retardation with or without seizures|SPPRS|spastic paraplegia-psychomotor retardation-seizures syndrome ordo_disease MONDO:0012100 major depressive disorder 2 biolink:Disease mondo UMLS:C1837529|MESH:C563875|OMIM:608691 http://identifiers.org/omim/608691|UMLS:C1837529|MESH:C563875 http://purl.obolibrary.org/obo/MONDO_0012100 major depressive disorder type 2|MDD2|unipolar depression 2|major depressive disorder 2 MONDO:0014763 Bombay phenotype biolink:Disease mondo OMIM:616754 http://identifiers.org/omim/616754 http://purl.obolibrary.org/obo/MONDO_0014763 Reunion variant|para-Bombay phenotype MONDO:0014762 heterotaxy, visceral, 7, autosomal biolink:Disease mondo UMLS:C4225217|OMIM:616749 Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene. UMLS:C4225217|http://identifiers.org/omim/616749 http://purl.obolibrary.org/obo/MONDO_0014762 heterotaxy, visceral, 7, autosomal|visceral heterotaxy caused by mutation in MMP21|HTX7|heterotaxy, visceral, 7, autosomal; HTX7|HTX7|MMP21 visceral heterotaxy MONDO:0012101 GLC1J biolink:Disease mondo OMIM:608695|MESH:C563874|UMLS:C1837528 http://identifiers.org/omim/608695|UMLS:C1837528|MESH:C563874 http://purl.obolibrary.org/obo/MONDO_0012101 JOAG2|glaucoma 1, open angle, J; GLC1J|glaucoma 1, open angle, J|JOAG1J|glaucoma, primary open angle, juvenile-onset, 2|GLC1J MONDO:0012106 microcephaly 5, primary, autosomal recessive biolink:Disease mondo DOID:0070280|UMLS:C1837501|MESH:C563871|OMIM:608716 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene. MESH:C563871|DOID:0070280|http://identifiers.org/omim/608716|UMLS:C1837501 http://purl.obolibrary.org/obo/MONDO_0012106 ASPM autosomal recessive primary microcephaly|microcephaly 5, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in ASPM|microcephaly 5, primary, autosomal recessive; MCPH5|MCPH5 MONDO:0014769 inherited oocyte maturation defect biolink:Disease mondo UMLS:CN238505|OMIMPS:615774 UMLS:CN238505 http://purl.obolibrary.org/obo/MONDO_0014769 OOMD|oocyte maturation defect prototype_pattern MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia biolink:Disease mondo OMIM:608720|UMLS:C1837492|MESH:C563870 MESH:C563870|http://identifiers.org/omim/608720|UMLS:C1837492 http://purl.obolibrary.org/obo/MONDO_0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 biolink:Disease mondo DOID:0111036|UMLS:C4225211|OMIM:616779|ICD10:F01.1 Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene. http://identifiers.org/omim/616779|DOID:0111036|UMLS:C4225211 http://purl.obolibrary.org/obo/MONDO_0014768 CADASIL 2|CADASIL caused by mutation in HTRA1|CADASIL2|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|CADASIL type 2|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2|HTRA1 CADASIL|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2; CADASIL2 MONDO:0012104 acquired partial lipodystrophy biolink:Disease mondo Orphanet:79087|MESH:C562448|OMIM:608709|GARD:0010509|ICD10:E88.1|NCIT:C129723|UMLS:C0220989|SCTID:75659004 Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs. MESH:C562448|UMLS:C0220989|http://identifiers.org/omim/608709|NCIT:C129723|SNOMEDCT:75659004|ORPHA:79087 http://purl.obolibrary.org/obo/MONDO_0012104 partial acquired lipodystrophy|Apld, susceptibility to|lipodystrophy partial acquired|lipodystrophy cephalothoracic type|lipodystrophy, cephalothoracic type|Barraquer-Simons syndrome|APLD|susceptibility to partial acquired lipodystrophy|progressive cephalothoracic lipodystrophy|lipodystrophy, partial, progressive|lipodystrophy, partial, acquired, susceptibility to; APLD|lipodystrophy, partial, acquired, susceptibility to|acquired partial lipodystrophy|lipodystophy partial progressive ordo_disease MONDO:0014767 Seckel syndrome 9 biolink:Disease mondo OMIM:616777|DOID:0070005|UMLS:C4225212 Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. http://identifiers.org/omim/616777|DOID:0070005|UMLS:C4225212 http://purl.obolibrary.org/obo/MONDO_0014767 Seckel syndrome 9|TRAIP Seckel syndrome|Seckel syndrome type 9|Seckel syndrome 9; SCKL9|Seckel syndrome caused by mutation in TRAIP|SCKL9 NCBITaxon:121759 Paracoccidioides brasiliensis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_121759 Loboa loboi MONDO:0012105 granulomatosis with polyangiitis biolink:Disease mondo COHD:313223|SCTID:195353004|EFO:0005297|ICD10:M31.30|MESH:D014890|MedDRA:10047888|OMIM:608710|ICD10:M31.3|UMLS:C3495801|DOID:12132|NCIT:C123111|ICD9:446.4|GARD:0007880|Orphanet:900|UMLS:C4050407 A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. NCIT:C123111|UMLS:C0043092|UMLS:C4050407|MESH:D014890|http://identifiers.org/omim/608710|UMLS:C3495801|MEDDRA:10047888|ORPHA:900|DOID:12132|SNOMEDCT:195353004 http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis|GPA|pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis|Wegener's granulomatosis|Midline granulomatosis|Wg|Wegener granulomatosis|ANCA-associated vasculitis|necrotizing respiratory granulomatosis|granulomatosis - Wegener's|Wegener's syndrome ordo_disease MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; biolink:Disease mondo UMLS:C4225213|OMIM:616763 http://identifiers.org/omim/616763|UMLS:C4225213 http://purl.obolibrary.org/obo/MONDO_0014766 LDAMD|leukodystrophy and acquired microcephaly with or without dystonia; LDAMD|leukodystrophy and acquired microcephaly with or without dystonia MONDO:0000109 obsolete basal ganglia calcification, idiopathic biolink:Disease mondo DC:0000478 http://purl.obolibrary.org/obo/MONDO_0000109 MONDO:0000108 bacteremia, susceptibility biolink:Disease mondo UMLS:C3280646|DC:0000476 UMLS:C3280646 http://purl.obolibrary.org/obo/MONDO_0000108 predisposition MONDO:0000107 auriculocondylar syndrome biolink:Disease mondo GARD:0009798|OMIMPS:602483|ICD10:Q75.8|SCTID:702443003|MESH:C538270|UMLS:CN160484|DC:0000475|UMLS:C1865295|Orphanet:137888 Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress. SNOMEDCT:702443003|UMLS:C1865295|UMLS:CN160484|MESH:C538270|ORPHA:137888 http://purl.obolibrary.org/obo/MONDO_0000107 auriculo-condylar syndrome|question mark ear|ears prominent and constricted|dysgnathia complex|question-mark ear syndrome|question mark ear syndrome ordo_malformation_syndrome MONDO:0002769 leukorrhea biolink:Disease mondo MESH:D007973|COHD:195873|DOID:3766|ICD10:N89.8 Whitish or yellowish mucosal vaginal discharge. DOID:3766|MESH:D007973|NCIT:C34775 http://purl.obolibrary.org/obo/MONDO_0002769 leukorrhea of vagina|discharge - leukorrhea MONDO:0014761 hereditary pediatric Behçet-like disease biolink:Disease mondo UMLS:C4225218|Orphanet:476102|OMIM:616744 UMLS:C4225218|ORPHA:476102|http://identifiers.org/omim/616744 http://purl.obolibrary.org/obo/MONDO_0014761 AISBL|hereditary pediatric Behçet-like disease|Behçet-like disease due to haploinsufficiency of A20|autoinflammatory syndrome, familial, Behcet-like; AISBL|Behçet-like disease due to HA20|autoinflammatory syndrome, familial, Behcet-like ordo_disease MONDO:0014760 TFRC-related combined immunodeficiency biolink:Disease mondo OMIM:616740|UMLS:C4225219|Orphanet:476113 UMLS:C4225219|ORPHA:476113|http://identifiers.org/omim/616740 http://purl.obolibrary.org/obo/MONDO_0014760 combined immunodeficiency due to TFRC deficiency|immunodeficiency type 46|immunodeficiency 46; IMD46|Cid due to TFRC deficiency|immunodeficiency 46|IMD46 ordo_disease NCBITaxon:121752 Lacazia loboi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_121752 Paracoccidioides loboi nom. inval. HGNC:6278 KCNK3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6278 MONDO:0002787 adamantinous craniopharyngioma biolink:Disease mondo NCIT:C4726|DOID:3846|UMLS:C0431129|EFO:1000069|ICDO:9351/1 A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO) NCIT:C4726|DOID:3846|UMLS:C0431129 http://purl.obolibrary.org/obo/MONDO_0002787 adamantinous neoplasm of Rathke's pouch|adamantinous Rathke's pouch neoplasm|adamantinomatous craniopharyngioma|adamantinous tumor of Rathke's pouch|adamantinous craniopharyngioma (morphologic abnormality)|craniopharyngioma, adamantinomatous|adamantinous Rathke's pouch tumor MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 biolink:Disease mondo OMIM:301035 http://identifiers.org/omim/301035 http://purl.obolibrary.org/obo/MONDO_0026732 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9 MONDO:0000124 obsolete focal facial dermal dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000124 MONDO:0002788 papillary craniopharyngioma biolink:Disease mondo DOID:3847|EFO:1000447|NCIT:C4725|UMLS:C0431128|ICDO:9352/1 A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO) NCIT:C4725|UMLS:C0431128|DOID:3847 http://purl.obolibrary.org/obo/MONDO_0002788 papillary craniopharyngioma (morphologic abnormality)|papillary neoplasm of Rathke's pouch|papillary Rathke's pouch neoplasm|craniopharyngioma, papillary (morphologic abnormality)|papillary Rathke pouch neoplasm|craniopharyngioma, papillary|papillary Rathke's pouch tumor|papillary tumor of Rathke's pouch MONDO:0026733 intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type biolink:Disease mondo OMIM:301039 http://identifiers.org/omim/301039 http://purl.obolibrary.org/obo/MONDO_0026733 Mental Retardation, X-Linked, With Marfanoid Habitus, 2|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD MONDO:0000123 obsolete factor V and Factor VIII, combined deficiency of biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000123 MONDO:0002789 hemangiopericytic tumor biolink:Disease mondo NCIT:C7076|EFO:1000289|UMLS:C0476144|DOID:3850 A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern. UMLS:C0476144|NCIT:C7076|DOID:3850 http://purl.obolibrary.org/obo/MONDO_0002789 hemangiopericytic neoplasm MONDO:0026730 Basilicata-Akhtar syndrome biolink:Disease mondo OMIM:301032 http://identifiers.org/omim/301032 http://purl.obolibrary.org/obo/MONDO_0026730 BASILICATA-AKHTAR SYNDROME; MRXSBA|Mental Retardation, X-Linked, Syndromic 36|Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type MONDO:0000122 obsolete facial paresis, hereditary congenital biolink:Disease mondo DC:0000516 http://purl.obolibrary.org/obo/MONDO_0000122 HP:0011563 Abnormal ventriculoarterial connection biolink:PhenotypicFeature mondo UMLS:C4023296 An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. http://purl.obolibrary.org/obo/HP_0011563 Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 biolink:Disease mondo OMIM:301033 http://identifiers.org/omim/301033 http://purl.obolibrary.org/obo/MONDO_0026731 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8; CHNG8 MONDO:0000121 obsolete emphysema biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000121 MONDO:0002783 Shwartzman phenomenon biolink:Disease mondo DOID:3825|UMLS:C0037018|GARD:0007636|MESH:D012790 Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow. UMLS:C0037018|MESH:D012790|DOID:3825 http://purl.obolibrary.org/obo/MONDO_0002783 Shwartzman reaction|Shwartzman reaction (function) gard_rare MONDO:0000128 giant axonal neuropathy biolink:Disease mondo MESH:D056768|UMLS:C1850386|DC:0000525|NCIT:C84728|OMIMPS:256850|SCTID:128207002|ICD9:349.89 A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs. NCIT:C84728|UMLS:C1850386|MESH:D056768|SNOMEDCT:128207002 http://purl.obolibrary.org/obo/MONDO_0000128 clingen MONDO:0000127 geleophysic dysplasia biolink:Disease mondo ICD9:759.89|SCTID:28557005|GARD:0002449|OMIMPS:231050|DC:0000524|MedDRA:10063361|ICD10:Q87.1|Orphanet:2623 Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). SNOMEDCT:28557005|ORPHA:2623|MESH:C537677|MEDDRA:10063361|UMLS:C3489726 http://purl.obolibrary.org/obo/MONDO_0000127 Geleophysic dwarfism|geleophysic dwarfism syndrome ordo_malformation_syndrome MONDO:0002784 obsolete craniopharyngioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002784 MONDO:0002785 skull base neoplasm biolink:Disease mondo NCIT:C4676|DOID:3842|UMLS:C0376527|MESH:D019292 A benign or malignant neoplasm that affects the skull base. NCIT:C4676|UMLS:C0376527|MESH:D019292|DOID:3842 http://purl.obolibrary.org/obo/MONDO_0002785 basicranium neoplasm|tumor of skull base|tumor of the skull base|neoplasm of basicranium|skull base cancer|basicranium tumor|basicranium neoplasm (disease)|neoplasm of skull base|skull base tumor|skull base neoplasm|neoplasm of the skull base|tumor of basicranium|tumors of skull base UBERON:0011380 female external urethral sphincter biolink:AnatomicalEntity mondo The external sphincter muscle of female urethra is a muscle which controls urination. http://purl.obolibrary.org/obo/UBERON_0011380 compressor urethrae|urethrovaginal sphincter|rhabdosphincter of female urethra|sphincter urethrovaginalis|striated muscle layer of female urethra|outer muscle layer of female urethra|musculus sphincter urethrae externus urethrae femininae|external urethral sphincter of female urethra|musculus sphincter urethrae externus (urethra feminina) MONDO:0000126 obsolete gastric cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000126 MONDO:0002786 diencephalic cancer biolink:Disease mondo DOID:3843|NCIT:C5126|UMLS:C1334576 A cancer involving a diencephalon. UMLS:C1334576|DOID:3843|NCIT:C5126 http://purl.obolibrary.org/obo/MONDO_0002786 malignant diencephalic tumor|tumor of diencephalon|malignant diencephalic neoplasm|cancer of diencephalon|malignant diencephalic neoplasms|diencephalon cancer|diencephalic neoplasm|malignant diencephalon neoplasm|malignant neoplasm of diencephalon MONDO:0000125 obsolete fundus dystrophy, pseudoinflammatory biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000125 MONDO:0002780 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002780 MONDO:0014749 tooth agenesis, selective, 7 biolink:Disease mondo UMLS:C4225231|OMIM:616724 Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene. http://identifiers.org/omim/616724|UMLS:C4225231 http://purl.obolibrary.org/obo/MONDO_0014749 tooth agenesis, selective, type 7|tooth agenesis, selective, 7|tooth agenesis caused by mutation in LRP6|tooth agenesis, selective, 7; STHAG7|STHAG7|LRP6 tooth agenesis MONDO:0002781 glossopharyngeal nerve paralysis biolink:Disease mondo NCIT:C27335|DOID:3816|UMLS:C0919940 Paralysis of the glossopharyngeal nerve. UMLS:C0919940|DOID:3816|NCIT:C27335 http://purl.obolibrary.org/obo/MONDO_0002781 cranial nerve palsy of glossopharyngeal nerve|glossopharyngeal nerve cranial nerve palsy MONDO:0002782 cranial nerve palsy biolink:Disease mondo NCIT:C26941|DOID:3817|UMLS:C0151311 Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. UMLS:C0151311|DOID:3817|NCIT:C26941 http://purl.obolibrary.org/obo/MONDO_0002782 cranial nerve palsies|cranial nerve palsy|cranial nerve paralysis MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome biolink:Disease mondo UMLS:C4225232|Orphanet:457395|OMIM:616723 http://identifiers.org/omim/616723|ORPHA:457395|UMLS:C4225232 http://purl.obolibrary.org/obo/MONDO_0014748 spondyloepimetaphyseal dysplasia, faden-ALKURAYA type; SEMDFA|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis|spondyloepimetaphyseal dysplasia, faden-Alkuraya type|SEMDFA|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis ordo_malformation_syndrome MONDO:0000120 obsolete ectopia lentis, isolated biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000120 MONDO:0014754 primary coenzyme Q10 deficiency 8 biolink:Disease mondo UMLS:C4225226|DOID:0070245|OMIM:616733 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene. http://identifiers.org/omim/616733|DOID:0070245|UMLS:C4225226 http://purl.obolibrary.org/obo/MONDO_0014754 coenzyme Q10 deficiency, primary, type 8|COQ10D8|primary coenzyme Q10 deficiency 8|coenzyme Q10 deficiency, primary, 8|coenzyme Q10 deficiency caused by mutation in COQ7|COQ7 coenzyme Q10 deficiency MONDO:0014753 autosomal recessive optic atrophy biolink:Disease mondo ICD10:H47.2|UMLS:CN229293|Orphanet:98676 UMLS:CN229293|ORPHA:98676 http://purl.obolibrary.org/obo/MONDO_0014753 autosomal recessive nonsyndromic optic atrophy|autosomal recessive isolated optic atrophy ordo_disease GO:0120025 plasma membrane bounded cell projection biolink:OntologyClass mondo A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/GO_0120025 MONDO:0014752 nephrotic syndrome, type 11 biolink:Disease mondo UMLS:C4225228|OMIM:616730 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. http://identifiers.org/omim/616730|UMLS:C4225228 http://purl.obolibrary.org/obo/MONDO_0014752 nephrotic syndrome, type 11; NPHS11|familial nephrotic syndrome caused by mutation in Nup107|familial nephrotic syndrome caused by mutation in NUP107|NPHS11|nephrotic syndrome, type 11|NUP107 familial nephrotic syndrome|Nup107 familial nephrotic syndrome MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome biolink:Disease mondo UMLS:C4225229|OMIM:616728|Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. http://identifiers.org/omim/616728|UMLS:C4225229|ORPHA:477993 http://purl.obolibrary.org/obo/MONDO_0014751 palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome|cleft palate, psychomotor retardation, and distinctive FACIAL features; CPRF|CPRF|cleft palate, psychomotor retardation, and distinctive Facial features ordo_malformation_syndrome MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 biolink:Disease mondo OMIM:616738|UMLS:C4225221 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene. http://identifiers.org/omim/616738|UMLS:C4225221 http://purl.obolibrary.org/obo/MONDO_0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2|RUSAT2|MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM|radioulnar synostosis with amegakaryocytic thrombocytopenia type 2|radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2 MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome biolink:Disease mondo Orphanet:487796|UMLS:C4225222|OMIM:616737 http://identifiers.org/omim/616737|ORPHA:487796|UMLS:C4225222 http://purl.obolibrary.org/obo/MONDO_0014757 Takenouchi-Kosaki syndrome|TKS|TAKENOUCHI-Kosaki syndrome; TKS|macrothrombocytopenia and intellectual disability syndrome|macrothrombocytopenia and mental retardation syndrome ordo_malformation_syndrome MONDO:0014756 tremor, hereditary essential, 5 biolink:Disease mondo OMIM:616736|UMLS:C4225223 Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene. http://identifiers.org/omim/616736|UMLS:C4225223 http://purl.obolibrary.org/obo/MONDO_0014756 tremor, hereditary essential, 5; ETM5|tremor, hereditary essential, 5|essential tremor caused by mutation in TENM4|tremor, hereditary essential, type 5|ETM5|TENM4 essential tremor|ETM5 MONDO:0014755 skin creases, congenital symmetric circumferential, 2 biolink:Disease mondo OMIM:616734 http://identifiers.org/omim/616734 http://purl.obolibrary.org/obo/MONDO_0014755 CSCSC2|skin creases, congenital symmetric circumferential, 2; CSCSC2|skin creases, congenital symmetric circumferential, type 2|MAPRE2 multiple benign circumferential skin creases on limbs|skin creases, congenital symmetric circumferential, 2|multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2 MONDO:0026729 congenital disorder of glycosylation, type ICC biolink:Disease mondo OMIM:301031 http://identifiers.org/omim/301031 http://purl.obolibrary.org/obo/MONDO_0026729 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC HGNC:6283 KCNK9 biolink:OntologyClass mondo http://identifiers.org/hgnc/6283 HGNC:6284 KCNMA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6284 MONDO:0000119 congenital heart defects, multiple types biolink:Disease mondo DC:0000506 http://purl.obolibrary.org/obo/MONDO_0000119 CHTD MONDO:0026727 Shukla-Vernon syndrome biolink:Disease mondo OMIM:301029 http://identifiers.org/omim/301029 http://purl.obolibrary.org/obo/MONDO_0026727 SHUKLA-VERNON SYNDROME; SHUVER MONDO:0000118 reticulate pigment disorder biolink:Disease mondo OMIMPS:179850|DC:0000504 http://purl.obolibrary.org/obo/MONDO_0000118 reticulate pigment disorders MONDO:0014750 primary ciliary dyskinesia 33 biolink:Disease mondo DOID:0110619|ICD10:Q34.8|OMIM:616726|UMLS:C4225230 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene. http://identifiers.org/omim/616726|UMLS:C4225230|DOID:0110619 http://purl.obolibrary.org/obo/MONDO_0014750 primary ciliary dyskinesia 33 without situs inversus|ciliary dyskinesia, primary, 33, without situs inversus|ciliary dyskinesia, primary, 33; CILD33|primary ciliary dyskinesia caused by mutation in GAS8|ciliary dyskinesia, primary, type 33|CILD33|primary ciliary dyskinesia type 33|GAS8 primary ciliary dyskinesia|ciliary dyskinesia, primary, 33 CHEBI:77941 EC 3.5.1.4 (amidase) inhibitor biolink:ChemicalSubstance mondo An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). http://purl.obolibrary.org/obo/CHEBI_77941 amidase (EC 3.5.1.4) inhibitors|fatty acylamidase inhibitors|EC 3.5.1.4 (amidase) inhibitors|acylamide amidohydrolase inhibitors|acylamidase inhibitors|acylamidase inhibitor|acylamide amidohydrolase inhibitor|fatty acylamidase inhibitor|amidase (EC 3.5.1.4) inhibitor|N-acetylaminohydrolase inhibitors|amidase inhibitors|deaminase inhibitor|EC 3.5.1.4 inhibitor|amidohydrolase inhibitors|amidohydrolase inhibitor|EC 3.5.1.4 inhibitors|deaminase inhibitors|N-acetylaminohydrolase inhibitor|amidase inhibitor CHEBI:28938 ammonium biolink:ChemicalSubstance mondo An onium cation obtained by protonation of ammonia. http://purl.obolibrary.org/obo/CHEBI_28938 ammonium ion|[NH4](+)|Ammonium(1+)|ammonium|ammonium cation|NH4+|azanium|NH4(+) MONDO:0002754 extramedullary plasmacytoma biolink:Disease mondo ICD10:C90.2|ICD9:203.80|NCIT:C4002|UMLS:C0278619|ONCOTREE:EP|ICDO:9734/3|DOID:3720|ICD10:C90.20|SCTID:188718006 A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients. DOID:3720|NCIT:C4002|SNOMEDCT:188718006|UMLS:C0278619 http://purl.obolibrary.org/obo/MONDO_0002754 EP|extraosseous plasmacytoma|plasmacytoma, extramedullary (not occurring in bone)|plasmacytoma, extramedullary|extramedullary plasmacytoma|extramedullary plasmacytoma (clinical) MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 biolink:Disease mondo OMIM:301021 http://identifiers.org/omim/301021 http://purl.obolibrary.org/obo/MONDO_0026721 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30 MONDO:0002755 solitary osseous plasmacytoma biolink:Disease mondo UMLS:C0272256|NCIT:C7812|DOID:3722|SCTID:426336007|ICD9:238.6|ONCOTREE:SPB A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion. DOID:3722|SNOMEDCT:426336007|NCIT:C7812|UMLS:C0272256 http://purl.obolibrary.org/obo/MONDO_0002755 isolated plasmacytoma of bone|solitary plasmacytoma of bone|isolated osseous plasmacytoma|SPB CHEBI:77956 L-erythro-sphingosine(1+) biolink:ChemicalSubstance mondo A cationic sphingoid resulting from the protonation of the amino group of L-erythro-sphingosine; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_77956 (2R,3S,4E)-1,3-dihydroxyoctadec-4-en-2-aminium|L-erythro-sphing-4-enine(1+)|L-erythro-sphing-4-enine MONDO:0026722 Mullegama-Klein-Martinez syndrome biolink:Disease mondo OMIM:301022 http://identifiers.org/omim/301022 http://purl.obolibrary.org/obo/MONDO_0026722 Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities|MULLEGAMA-KLEIN-MARTINEZ SYNDROME; MKMS MONDO:0002756 solitary plasmacytoma of chest wall biolink:Disease mondo NCIT:C6711|DOID:3723|UMLS:C1332936 A solitary plasmacytoma that arises from the chest wall. DOID:3723|NCIT:C6711|UMLS:C1332936 http://purl.obolibrary.org/obo/MONDO_0002756 chest wall solitary plasmacytoma|plasmacytoma of chest wall|solitary plasmacytoma of the chest wall|solitary plasmacytoma of chest wall|chest wall plasmacytoma MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 biolink:Disease mondo OMIM:301020 http://identifiers.org/omim/301020 http://purl.obolibrary.org/obo/MONDO_0026720 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12 MONDO:0002757 acute allergic sanguinous otitis media biolink:Disease mondo ICD9:381.06|DOID:3728|SCTID:17866004|UMLS:C0155420 A acute sanguinous otitis media caused by an allergen. DOID:3728|UMLS:C0155420|SNOMEDCT:17866004 http://purl.obolibrary.org/obo/MONDO_0002757 MONDO:0002750 bladder colloid adenocarcinoma biolink:Disease mondo DOID:3710|NCIT:C39837|UMLS:C1511193 NCIT:C39837|UMLS:C1511193|DOID:3710 http://purl.obolibrary.org/obo/MONDO_0002750 bladder mucinous adenocarcinoma MONDO:0026726 nephrotic syndrome, type 20 biolink:Disease mondo OMIM:301028 http://identifiers.org/omim/301028 http://purl.obolibrary.org/obo/MONDO_0026726 NEPHROTIC SYNDROME, TYPE 20; NPHS20 MONDO:0002751 bladder adenocarcinoma biolink:Disease mondo ONCOTREE:BLAD|UMLS:C0279682|EFO:1000125|DOID:3711|NCIT:C4032|SCTID:255110003 A carcinoma that arises from glandular epithelial cells of the urinary bladder NCIT:C4032|UMLS:C0279682|SNOMEDCT:255110003|DOID:3711 http://purl.obolibrary.org/obo/MONDO_0002751 urinary bladder adenocarcinoma|bladder adenocarcinoma, not otherwise specified|bladder adenocarcinoma|adenocarcinoma of the urinary bladder|adenocarcinoma of urinary bladder|adenocarcinoma of the bladder|adenocarcinoma of bladder|blad MONDO:0002752 ovarian adenocarcinoma biolink:Disease mondo NCIT:C7700|EFO:0006460|MedDRA:10051938|DOID:3713|ICD10:C56|Orphanet:213504 An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma. UMLS:C0948216|ORPHA:213504|MEDDRA:10051938|NCIT:C7700|DOID:3713 http://purl.obolibrary.org/obo/MONDO_0002752 adenocarcinoma of ovary|ovarian adenocarcinoma|adenocarcinoma of the ovary|ovarian adenoacanthoma|ovary adenocarcinoma ordo_disease MONDO:0026723 intellectual developmental disorder, X-linked 108 biolink:Disease mondo OMIM:301024 http://identifiers.org/omim/301024 http://purl.obolibrary.org/obo/MONDO_0026723 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108; MRX108|Mental Retardation, X-Linked 108 UBERON_CORE:proximally_connected_to proximally connected to biolink:OntologyClass mondo x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to MONDO:0002753 obsolete mucinous stomach adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002753 MONDO:0026724 Paganini-Miozzo syndrome biolink:Disease mondo OMIM:301025 http://identifiers.org/omim/301025 http://purl.obolibrary.org/obo/MONDO_0026724 Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type|PAGANINI-MIOZZO SYNDROME; MRXSPM UBERON:0011375 skin of prepuce of clitoris biolink:AnatomicalEntity mondo A zone of skin that is part of a prepuce of clitoris. http://purl.obolibrary.org/obo/UBERON_0011375 preputial skin of clitoris MONDO:0014739 autosomal recessive nonsyndromic deafness 97 biolink:Disease mondo ICD10:H90.3|OMIM:616705|UMLS:C4084709|DOID:0110539 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene. DOID:0110539|UMLS:C4084709|http://identifiers.org/omim/616705 http://purl.obolibrary.org/obo/MONDO_0014739 deafness, autosomal recessive type 97|autosomal recessive nonsyndromic deafness caused by mutation in MET|DFNB97|autosomal recessive deafness 97|deafness, autosomal recessive 97; DFNB97|deafness, autosomal recessive 97|autosomal recessive nonsyndromic deafness type 97|MET autosomal recessive nonsyndromic deafness UBERON:0011374 prepuce biolink:AnatomicalEntity mondo A retractable double-layered fold of skin and mucous membrane that covers the glans penis or clitoris. Glands may also be present. http://purl.obolibrary.org/obo/UBERON_0011374 MONDO:0014738 autosomal dominant nonsyndromic deafness 69 biolink:Disease mondo ICD10:H90.3|UMLS:C4225241|OMIM:616697|DOID:0110590 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene. UMLS:C4225241|DOID:0110590|http://identifiers.org/omim/616697 http://purl.obolibrary.org/obo/MONDO_0014738 unilateral or asymmetric congenital deafness|DCUA|KITLG autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 69|DFNA69|autosomal dominant nonsyndromic deafness caused by mutation in KITLG|deafness, autosomal dominant 69; DFNA69|deafness, congenital, unilateral or asymmetric|autosomal dominant deafness 69|autosomal dominant nonsyndromic deafness type 69 MONDO:0014737 dehydrated hereditary stomatocytosis 2 biolink:Disease mondo OMIM:616689|UMLS:C4225242 Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene. http://identifiers.org/omim/616689|UMLS:C4225242 http://purl.obolibrary.org/obo/MONDO_0014737 dehydrated hereditary stomatocytosis 2; DHS2|dehydrated hereditary stomatocytosis caused by mutation in KCNN4|DHS2|Desiccytosis Gardos|KCNN4 dehydrated hereditary stomatocytosis|Dehydrated hereditary stomatocytosis 2|xerocytosis Gardos|Dehydrated hereditary stomatocytosis type 2|DHS2 UBERON:0011379 male external urethral sphincter biolink:AnatomicalEntity mondo The external sphincter muscle of urethra (or sphincter urethrae membranaceae) surrounds the whole length of the membranous portion of the urethra, and is enclosed in the fasciæ of the urogenital diaphragm. They arch across the front of the urethra and bulbourethral glands, pass around the urethra, and behind it unite with the muscle of the opposite side, by means of a tendinous raphé. http://purl.obolibrary.org/obo/UBERON_0011379 musculus sphincter urethrae externus urethrae masculinae|bulboglandular muscle|musculus sphincter urethrae membranaceae|external urethral sphincter of male urethra|musculus sphincter urethrae externus (urethra masculina)|male sphincter urethrae muscle|male sphincter urethrae|male urethral sphincter muscle|bulboglandular GO:0120039 plasma membrane bounded cell projection morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of a plasma membrane bounded cell projection are generated and organized. http://purl.obolibrary.org/obo/GO_0120039 OBO:so#part_of part_of biolink:OntologyClass mondo X part_of Y if X is a subregion of Y. http://purl.obolibrary.org/obo/so#part_of GO:0120035 regulation of plasma membrane bounded cell projection organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections. http://purl.obolibrary.org/obo/GO_0120035 MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 biolink:Disease mondo Orphanet:468717|UMLS:C4225237|DOID:0110854|OMIM:616716 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene. DOID:0110854|http://identifiers.org/omim/616716|ORPHA:468717|UMLS:C4225237 http://purl.obolibrary.org/obo/MONDO_0014743 RCDP5|Rcdp5|rhizomelic chondrodysplasia punctata caused by mutation in PEX5|rhizomelic chondrodysplasia punctata, type 5; RCDP5|rhizomelic chondrodysplasia punctata, type 5|PEX5 rhizomelic chondrodysplasia punctata ordo_malformation_syndrome MONDO:0014742 Parkinson disease 22, autosomal dominant biolink:Disease mondo UMLS:C4225238|OMIM:616710 Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene. http://identifiers.org/omim/616710|UMLS:C4225238 http://purl.obolibrary.org/obo/MONDO_0014742 Parkinson disease 22, autosomal dominant; PARK22|Parkinson disease 22, autosomal dominant|PARK22|CHCHD2 Parkinson disease|Parkinson disease caused by mutation in CHCHD2 GO:0120036 plasma membrane bounded cell projection organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. http://purl.obolibrary.org/obo/GO_0120036 MONDO:0014741 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation biolink:Disease mondo UMLS:C4225239|OMIM:616708|UMLS:CN242167|Orphanet:466950 http://identifiers.org/omim/616708|UMLS:CN242167|ORPHA:466950|UMLS:C4225239 http://purl.obolibrary.org/obo/MONDO_0014741 DESANTO-SHINAWI syndrome; DESSH|developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities|chromosome 10P12-p11 deletion syndrome|Desanto-Shinawi syndrome|DESSH ordo_clinical_subtype GO:0120038 obsolete plasma membrane bounded cell projection part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a plasma membrane bounded cell projection, a prolongation or process extending from a cell, e.g. a cilium or axon. http://purl.obolibrary.org/obo/GO_0120038 MONDO:0014740 autosomal dominant nonsyndromic deafness 68 biolink:Disease mondo UMLS:C4225240|OMIM:616707|ICD10:H90.3|DOID:0110589 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene. http://identifiers.org/omim/616707|UMLS:C4225240|DOID:0110589 http://purl.obolibrary.org/obo/MONDO_0014740 autosomal dominant nonsyndromic deafness type 68|autosomal dominant deafness 68|autosomal dominant nonsyndromic deafness caused by mutation in HOMER2|deafness, autosomal dominant type 68|DFNA68|deafness, autosomal dominant 68|deafness, autosomal dominant 68; DFNA68|HOMER2 autosomal dominant nonsyndromic deafness MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome biolink:Disease mondo UMLS:C4225233|Orphanet:488197|OMIM:616722 ORPHA:488197|http://identifiers.org/omim/616722|UMLS:C4225233 http://purl.obolibrary.org/obo/MONDO_0014747 retinal dystrophy and iris coloboma with or without congenital cataract; RDICC|retinal dystrophy and iris coloboma with or without congenital cataract|RDICC ordo_disease GO:0120031 plasma membrane bounded cell projection assembly biolink:OntologyClass mondo Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/GO_0120031 eupodium NCBITaxon:121739 Lacazia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_121739 MONDO:0014746 SLC39A8-CDG biolink:Disease mondo Orphanet:468699|OMIM:616721|UMLS:CN234734|UMLS:C4225234|DOID:0070266 http://identifiers.org/omim/616721|UMLS:CN234734|DOID:0070266|ORPHA:468699|UMLS:C4225234 http://purl.obolibrary.org/obo/MONDO_0014746 congenital disorder of glycosylation type IIn|CDG syndrome type IIn|congenital disorder of glycosylation type 2n|CDG2N|CDG-IIn|carbohydrate deficient glycoprotein syndrome type IIn|congenital disorder of glycosylation, type IIn|SLC39A8 deficiency|congenital disorder of glycosylation, type IIn; CDG2N|CDG IIn ordo_disease GO:0120032 regulation of plasma membrane bounded cell projection assembly biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly. http://purl.obolibrary.org/obo/GO_0120032 MONDO:0014745 congenital myasthenic syndrome 19 biolink:Disease mondo OMIM:616720|DOID:0110673|UMLS:C4225235 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene. DOID:0110673|http://identifiers.org/omim/616720|UMLS:C4225235 http://purl.obolibrary.org/obo/MONDO_0014745 CMS19|congenital myasthenic syndrome type 19|myasthenic syndrome, congenital, type 19|congenital myasthenic syndrome caused by mutation in COL13A1|COL13A1 congenital myasthenic syndrome|myasthenic syndrome, congenital, 19; CMS19|myasthenic syndrome, congenital, 19 GO:0120033 negative regulation of plasma membrane bounded cell projection assembly biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly. http://purl.obolibrary.org/obo/GO_0120033 MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome biolink:Disease mondo Orphanet:466794|DOID:0111155|UMLS:C4225236|OMIM:616719 An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. http://identifiers.org/omim/616719|ORPHA:466794|DOID:0111155|UMLS:C4225236 http://purl.obolibrary.org/obo/MONDO_0014744 spinocerebellar ataxia, autosomal recessive 21; SCAR21|spinocerebellar ataxia, autosomal recessive 21|spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia 21|autosomal recessive spinocerebellar ataxia 21 with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|SCAR21|spinocerebellar ataxia, autosomal recessive type 21|acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ordo_disease GO:0120034 positive regulation of plasma membrane bounded cell projection assembly biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly. http://purl.obolibrary.org/obo/GO_0120034 HGNC:6293 KCNN4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6293 HGNC:6294 KCNQ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6294 HGNC:6295 KCNQ1OT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6295 HGNC:6296 KCNQ2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6296 MONDO:0002747 endometrial mucinous adenocarcinoma biolink:Disease mondo DOID:3707|NCIT:C40144|ONCOTREE:UMC|EFO:1000236|UMLS:C1519859 A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. DOID:3707|UMLS:C1519859|NCIT:C40144 http://purl.obolibrary.org/obo/MONDO_0002747 uterine corpus mucinous adenocarcinoma|endometrial mucinous adenocarcinoma|uterine mucinous carcinoma|endometrium mucinous adenocarcinoma HGNC:6297 KCNQ3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6297 MONDO:0002748 rectum mucinous adenocarcinoma biolink:Disease mondo UMLS:C0279652|DOID:3709|NCIT:C7973 An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. DOID:3709|NCIT:C7973|UMLS:C0279652 http://purl.obolibrary.org/obo/MONDO_0002748 rectum mucinous adenocarcinoma|mucinous adenocarcinoma of rectum|rectal colloidal adenocarcinoma|mucinous adenocarcinoma of the rectum|colloid adenocarcinoma of rectum|colloidal adenocarcinoma of rectum|colloid adenocarcinoma of the rectum|rectal colloid adenocarcinoma|rectal mucinous adenocarcinoma|colloidal adenocarcinoma of the rectum HGNC:6298 KCNQ4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6298 MONDO:0002749 extracranial neuroblastoma biolink:Disease mondo UMLS:C1333499|NCIT:C5437|DOID:371 A neuroblastoma arising from an anatomic site other than the brain. NCIT:C5437|UMLS:C1333499|DOID:371 http://purl.obolibrary.org/obo/MONDO_0002749 extracranial neuroblastoma MONDO:0002765 plantar verrucous skin carcinoma biolink:Disease mondo UMLS:C1335424|NCIT:C6811|DOID:3751 A verrucous carcinoma that involves the plantar part of pes. NCIT:C6811|UMLS:C1335424|DOID:3751 http://purl.obolibrary.org/obo/MONDO_0002765 plantar verrucous carcinoma of skin|plantar verrucous skin carcinoma|plantar verrucous carcinoma of the skin|plantar part of pes verrucous carcinoma MONDO:0000102 obsolete vertigo biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000102 MONDO:0002766 larynx verrucous carcinoma biolink:Disease mondo SCTID:707427000|NCIT:C8188|UMLS:C0280328|DOID:3752 A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction. SNOMEDCT:707427000|NCIT:C8188|UMLS:C0280328|DOID:3752 http://purl.obolibrary.org/obo/MONDO_0002766 verrucous carcinoma of the larynx|laryngeal verrucous carcinoma|laryngeal throat verrucous cancer|verrucous carcinoma of larynx|larynx verrucous carcinoma MONDO:0000101 obsolete tumoral calcinosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000101 MONDO:0000100 obsolete trichorhinophalangeal syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000100 MONDO:0002767 obsolete protein C deficiency biolink:Disease mondo A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. http://purl.obolibrary.org/obo/MONDO_0002767 MONDO:0002768 true hermaphroditism biolink:Disease mondo SCTID:237821001|UMLS:C0019269|PATO:0001340|DOID:3763|NCIT:C85207 A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia. DOID:3763|NCIT:C85207|NCIT:C45909|SNOMEDCT:237821001|UMLS:C0019269 http://purl.obolibrary.org/obo/MONDO_0002768 ovotestis|hermaphroditism|true hermaphroditism MONDO:0002761 cervical verrucous carcinoma biolink:Disease mondo DOID:3743|NCIT:C40190|UMLS:C1516435 A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present. UMLS:C1516435|NCIT:C40190|DOID:3743 http://purl.obolibrary.org/obo/MONDO_0002761 cervical verrucous carcinoma|uterine cervix verrucous carcinoma MONDO:0000106 obsolete apnea (disease) biolink:Disease mondo DC:0000472 http://purl.obolibrary.org/obo/MONDO_0000106 apnea MONDO:0002762 esophagus verrucous carcinoma biolink:Disease mondo NCIT:C27420|DOID:3747|UMLS:C1333470 A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO) UMLS:C1333470|DOID:3747|NCIT:C27420 http://purl.obolibrary.org/obo/MONDO_0002762 verrucous carcinoma of the esophagus|verrucous carcinoma of esophagus|esophagus verrucous carcinoma|esophageal verrucous carcinoma|esophageal verrucous cancer MONDO:0000105 anemia, nonspherocytic hemolytic biolink:Disease mondo DC:0000470 http://purl.obolibrary.org/obo/MONDO_0000105 MONDO:0002763 urethral verrucous carcinoma biolink:Disease mondo DOID:3749|UMLS:C1519827|NCIT:C39874 A verrucous carcinoma that involves the urethra. UMLS:C1519827|NCIT:C39874|DOID:3749 http://purl.obolibrary.org/obo/MONDO_0002763 urethra verrucous carcinoma|urethral verrucous carcinoma MONDO:0000104 anemia, hypochromic microcytic with iron overload biolink:Disease mondo MESH:C567144|DC:0000469|OMIMPS:206100|UMLS:C2673913 UMLS:C2673913|MESH:C567144 http://purl.obolibrary.org/obo/MONDO_0000104 anemia, hypochromic microcytic, with iron overload MONDO:0002764 urethra squamous cell carcinoma biolink:Disease mondo ONCOTREE:USCC|NCIT:C6165|DOID:3750|UMLS:C1336890 A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra. UMLS:C1336890|DOID:3750|NCIT:C6165 http://purl.obolibrary.org/obo/MONDO_0002764 squamous cell carcinoma of the urethra|squamous cell carcinoma of urethra|urethral epidermoid carcinoma|urethra squamous cell carcinoma|urethral squamous cell carcinoma|urethral squamous cell cancer|urethra epidermoid carcinoma|epidermoid carcinoma of the urethra|USCC|epidermoid carcinoma of urethra HP:0011545 Abnormal connection of the cardiac segments biolink:PhenotypicFeature mondo UMLS:C4023306 A deviance in the normal connections between two cardiac segements. http://purl.obolibrary.org/obo/HP_0011545 Discordant connection of the cardiac segments|Abnormal connexion of the cardiac segments MONDO:0000103 obsolete Wilms tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000103 MONDO:0014729 hereditary spastic paraplegia 75 biolink:Disease mondo DOID:0110820|EFO:0009018|ICD10:G11.4|OMIM:616680|UMLS:C4225250|Orphanet:459056 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene. UMLS:C4225250|ORPHA:459056|DOID:0110820|http://identifiers.org/omim/616680 http://purl.obolibrary.org/obo/MONDO_0014729 spastic paraplegia 75, autosomal recessive; SPG75|MAG hereditary spastic paraplegia|spastic paraplegia 75, autosomal recessive|autosomal recessive spastic paraplegia type 75|hereditary spastic paraplegia caused by mutation in MAG|SPG75|autosomal recessive spastic paraplegia 75|hereditary spastic paraplegia type 75 ordo_disease UBERON:0011363 cranial lymph vasculature biolink:AnatomicalEntity mondo A lymph vasculature that is part of a head. http://purl.obolibrary.org/obo/UBERON_0011363 cranial lymph vessels|cranial lymph vessel|cranial lymphatics|set of lymphatic vessels of head|set of cranial lymphatic vessels MONDO:0014728 combined oxidative phosphorylation defect type 27 biolink:Disease mondo Orphanet:477774|UMLS:C4225251|EFO:0009037|OMIM:616672 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene. UMLS:C4225251|ORPHA:477774|http://identifiers.org/omim/616672 http://purl.obolibrary.org/obo/MONDO_0014728 COXPD27|combined oxidative phosphorylation deficiency 27|combined oxidative phosphorylation deficiency type 27|CARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 27; COXPD27|combined oxidative phosphorylation deficiency caused by mutation in CARS2 ordo_disease MONDO:0014727 immunodeficiency 45 biolink:Disease mondo OMIM:616669|UMLS:C4225252 UMLS:C4225252|http://identifiers.org/omim/616669 http://purl.obolibrary.org/obo/MONDO_0014727 IMD45|immunodeficiency type 45|immunodeficiency 45 UBERON:0011362 cranial blood vasculature biolink:AnatomicalEntity mondo A blood vasculature that is part of a head. http://purl.obolibrary.org/obo/UBERON_0011362 set of blood vessels of head|cranial blood vessel|cranial blood vessels MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X biolink:Disease mondo UMLS:C4225253|Orphanet:466775|DOID:0110176|OMIM:616668|EFO:1001983 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene. ORPHA:466775|UMLS:C4225253|DOID:0110176|http://identifiers.org/omim/616668 http://purl.obolibrary.org/obo/MONDO_0014726 Charcot-Marie-Tooth neuropathy, type 2X|Charcot-Marie-Tooth neuropathy type 2X|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X|ARCMT2X|SPG11 Charcot-Marie-Tooth disease|autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation|autosomal recessive Charcot-Marie-Tooth disease type 2X|Charcot-Marie-Tooth disease, axonal, type 2x|autosomal recessive axonal Charcot-Marie-Tooth disease type 2X|Charcot-Marie-Tooth disease caused by mutation in SPG11|CMT2X|Charcot-Marie-Tooth disease, axonal, type 2X; CMT2X|autosomal recessive Charcot Marie Tooth disease type 2X ordo_disease MONDO:0002760 bladder squamous cell carcinoma biolink:Disease mondo NCIT:C4031|ONCOTREE:BLSC|DOID:3742|EFO:1000130|UMLS:C0279681|SCTID:255111004 A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming. UMLS:C0279681|SNOMEDCT:255111004|DOID:3742|NCIT:C4031 http://purl.obolibrary.org/obo/MONDO_0002760 squamous cell carcinoma of urinary bladder|urinary bladder squamous cell carcinoma|squamous cell carcinoma of the bladder|urinary bladder epidermoid carcinoma|squamous cell carcinoma of bladder|bladder squamous cell cancer|epidermoid carcinoma of the urinary bladder|epidermoid carcinoma of urinary bladder|bladder squamous cell carcinoma|epidermoid carcinoma of the bladder|epidermoid carcinoma of bladder|bladder epidermoid carcinoma|BLSC|squamous cell carcinoma of the urinary bladder UBERON:0035313 posterior wall of laryngopharynx biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035313 posterior wall of hypopharynx UBERON:0011368 brachiocephalic muscle biolink:AnatomicalEntity mondo The brachiocephalicus is a long and flat, complex of muscles that extends from the lower half of the humeral shaft to the head and neck. The muscle divides into two parts at the clavicular intersection. This is also the point of origin for all the muscles that make up the brachiocephalicus. This point is situated just cranial to the shoulder. The two main sections are the cleidobrachialis which is distal to the clavicular intersection and the cleidocephalicus which extends proximally to the clavivular intersection. The cleidocephalicus can also be divided into the pars cervicalis, which inserts on the broad aponeurosis, over the fibrous raphe of the cranial half of the neck. The other part, the pars mastoideus inserts on the mastoid process of the temporal bone via a strong tendon. The cleidobrachialis extends distally from the clavicular intersection and inserts on the cranial edge of the distal half of the humerus. The tendon that inserts the cleidobrachialis lies between the brachialis muscle and the biceps brachii. As a result of the brachiocephalicus spanning a large region it has the ability to provide a number of actions. These include extending the shoulder joint, protracts the limb, provides lateral movement of the head and allows the neck to be depressed. http://purl.obolibrary.org/obo/UBERON_0011368 brachiocephalicus MONDO:0014732 hypomyelinating leukodystrophy 12 biolink:Disease mondo Orphanet:466934|UMLS:C4225247|DOID:0060796|OMIM:616683 Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene. DOID:0060796|http://identifiers.org/omim/616683|UMLS:C4225247|ORPHA:466934 http://purl.obolibrary.org/obo/MONDO_0014732 VPS11-related autosomal recessive hypomyelinating leukoencephalopathy|leukodystrophy, hypomyelinating, type 12|hypomyelinating leukodystrophy type 12|VPS11-related autosomal recessive hypomyelinating leukodystrophy|VPS11 leukodystrophy|leukodystrophy, hypomyelinating, 12; HLD12|HLD12|leukodystrophy caused by mutation in VPS11|leukodystrophy, hypomyelinating, 12 ordo_disease MONDO:0014731 seizures-scoliosis-macrocephaly syndrome biolink:Disease mondo OMIM:616682|GARD:0009960|Orphanet:466926|UMLS:C4225248 Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. http://identifiers.org/omim/616682|ORPHA:466926|UMLS:C4225248 http://purl.obolibrary.org/obo/MONDO_0014731 SSM syndrome|seizures, scoliosis, and macrocephaly syndrome|SSMS|seizures, scoliosis, and macrocephaly syndrome; SSMS ordo_disease MONDO:0014730 microcephaly 16, primary, autosomal recessive biolink:Disease mondo OMIM:616681|UMLS:C4225249|DOID:0070289 http://identifiers.org/omim/616681|DOID:0070289|UMLS:C4225249 http://purl.obolibrary.org/obo/MONDO_0014730 microcephaly 16, primary, autosomal recessive|MCPH16|microcephaly 16, primary, autosomal recessive; MCPH16 UBERON:0035307 branch of vertebral artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035307 vertebral arterial branch MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z biolink:Disease mondo UMLS:C4225243|Orphanet:466768|OMIM:616688|DOID:0110181 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene. DOID:0110181|http://identifiers.org/omim/616688|ORPHA:466768|UMLS:C4225243 http://purl.obolibrary.org/obo/MONDO_0014736 Charcot-Marie-Tooth disease, axonal, type 2z|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z|Charcot-Marie-Tooth disease caused by mutation in MORC2|autosomal dominant Charcot-Marie-Tooth disease type 2Z|CMT2Z|Charcot-Marie-Tooth neuropathy type 2Z|Charcot-Marie-Tooth disease, axonal, type 2Z; CMT2Z|Charcot-Marie-Tooth neuropathy, type 2Z|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z|MORC2 Charcot-Marie-Tooth disease|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation ordo_disease MONDO:0014735 Charcot-Marie-Tooth disease type 2Y biolink:Disease mondo UMLS:C4225244|OMIM:616687|DOID:0110168|ICD10:G60.0|Orphanet:435387 Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene. DOID:0110168|http://identifiers.org/omim/616687|UMLS:C4225244|ORPHA:435387 http://purl.obolibrary.org/obo/MONDO_0014735 Charcot-Marie-Tooth disease, axonal, type 2y|CMT2Y|Charcot-Marie-Tooth disease, axonal, type 2Y; CMT2Y|autosomal dominant axonal Charcot-Marie-Tooth type 2Y|Charcot-Marie-Tooth neuropathy, type 2Y|autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation|autosomal dominant Charcot-Marie-Tooth disease type 2Y|CMT2 due to VCP mutation|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y|Charcot-Marie-Tooth disease type 2 caused by mutation in VCP|Charcot-Marie-Tooth neuropathy type 2Y|VCP Charcot-Marie-Tooth disease type 2 ordo_disease MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14 biolink:Disease mondo OMIM:616685 http://identifiers.org/omim/616685 http://purl.obolibrary.org/obo/MONDO_0014734 EIG14|epilepsy, idiopathic generalized, susceptibility to, 14|epilepsy, idiopathic generalized, susceptibility to, type 14|susceptibility to idiopathic generalized epilepsy 14|epilepsy, idiopathic generalized, susceptibility to, 14; EIG14 predisposition MONDO:0014733 Charcot-Marie-Tooth disease type 4K biolink:Disease mondo Orphanet:391351|ICD10:G60.0|SCTID:765047006|OMIM:616684|DOID:0110187|UMLS:C4225246 SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). http://identifiers.org/omim/616684|UMLS:C4225246|ORPHA:391351|SNOMEDCT:765047006|DOID:0110187 http://purl.obolibrary.org/obo/MONDO_0014733 autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K|Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1|SURF1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, type 4K; CMT4K|SURF1-related severe demyelinating Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K|Charcot-Marie-Tooth disease, type 4k|SURF1-related Charcot-Marie-Tooth disease type 4|CMT4K|SURF1-related CMT4|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K ordo_disease MONDO:0002758 vulva verrucous carcinoma biolink:Disease mondo DOID:3740|UMLS:C1336983|NCIT:C6383 A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border. NCIT:C6383|DOID:3740|UMLS:C1336983 http://purl.obolibrary.org/obo/MONDO_0002758 verrucous carcinoma of vulva|vulvar verrucous carcinoma|mammalian vulva verrucous carcinoma|verrucous carcinoma of the vulva MONDO:0002759 bladder verrucous carcinoma biolink:Disease mondo DOID:3741|NCIT:C39832|UMLS:C1511208 A verrucous carcinoma that involves the urinary bladder. UMLS:C1511208|DOID:3741|NCIT:C39832 http://purl.obolibrary.org/obo/MONDO_0002759 urinary bladder verrucous carcinoma|bladder verrucous carcinoma|bladder verrucous squamous cell carcinoma GO:0002863 positive regulation of inflammatory response to antigenic stimulus biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. http://purl.obolibrary.org/obo/GO_0002863 stimulation of inflammatory response to antigenic stimulus|upregulation of inflammatory response to antigenic stimulus|up-regulation of inflammatory response to antigenic stimulus|up regulation of inflammatory response to antigenic stimulus|activation of inflammatory response to antigenic stimulus GO:0002864 regulation of acute inflammatory response to antigenic stimulus biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. http://purl.obolibrary.org/obo/GO_0002864 GO:0002865 negative regulation of acute inflammatory response to antigenic stimulus biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. http://purl.obolibrary.org/obo/GO_0002865 down regulation of acute inflammatory response to antigenic stimulus|inhibition of acute inflammatory response to antigenic stimulus|downregulation of acute inflammatory response to antigenic stimulus|down-regulation of acute inflammatory response to antigenic stimulus UBERON:0001949 gingival epithelium biolink:AnatomicalEntity mondo A stratified squamous epithelium consisting of a basal layer; it is keratinized or parakeratinized[BTO]. http://purl.obolibrary.org/obo/UBERON_0001949 epithelium of gingiva|epithelial tissue of gingiva|gingiva epithelial tissue|gingiva epithelium GO:0002866 positive regulation of acute inflammatory response to antigenic stimulus biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. http://purl.obolibrary.org/obo/GO_0002866 up-regulation of acute inflammatory response to antigenic stimulus|up regulation of acute inflammatory response to antigenic stimulus|activation of acute inflammatory response to antigenic stimulus|stimulation of acute inflammatory response to antigenic stimulus|upregulation of acute inflammatory response to antigenic stimulus UBERON:0001948 regional part of spinal cord biolink:AnatomicalEntity mondo A multi-tissue structure that is part of a spinal cord. http://purl.obolibrary.org/obo/UBERON_0001948 spinal cord part UBERON:0001943 midbrain tegmentum biolink:AnatomicalEntity mondo Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. http://purl.obolibrary.org/obo/UBERON_0001943 MTg|tegmentum mesencephali|tegmentum of midbrain|tegmentum mesencephalicum|tegmentum|mesencephalic tegmentum GO:0002861 regulation of inflammatory response to antigenic stimulus biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. http://purl.obolibrary.org/obo/GO_0002861 GO:0002862 negative regulation of inflammatory response to antigenic stimulus biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. http://purl.obolibrary.org/obo/GO_0002862 down-regulation of inflammatory response to antigenic stimulus|down regulation of inflammatory response to antigenic stimulus|inhibition of inflammatory response to antigenic stimulus|downregulation of inflammatory response to antigenic stimulus HGNC:8806 PDHA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8806 HGNC:8808 PDHB biolink:OntologyClass mondo http://identifiers.org/hgnc/8808 UBERON:0001950 neocortex biolink:AnatomicalEntity mondo An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) http://purl.obolibrary.org/obo/UBERON_0001950 neocortex (isocortex)|iso-cortex|homogenetic cortex|nucleus hypoglossalis|nonolfactory cortex|isocortex|homotypical cortex|cerebral neocortex|isocortex (sensu lato)|neopallium|neopallial cortex UBERON_CORE:transitively_connected_to transitively_connected to biolink:OntologyClass mondo http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to UBERON:0001952 epithelium of oropharynx biolink:AnatomicalEntity mondo An epithelium that is part of a oropharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001952 oropharyngeal epithelium|oropharynx epithelium|oropharynx epithelial tissue UBERON:0001951 epithelium of nasopharynx biolink:AnatomicalEntity mondo An epithelium that is part of a nasopharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001951 nasopharynx epithelial tissue|nasal part of pharynx epithelial tissue|rhinopharynx epithelium|rhinopharynx epithelial tissue|nasal part of pharynx epithelium|nasopharyngeal epithelium|nasopharynx epithelium|epithelial tissue of rhinopharynx|epithelial tissue of nasopharynx|epithelium of nasal part of pharynx|epithelium of rhinopharynx|epithelial tissue of nasal part of pharynx GO:0048199 vesicle targeting, to, from or within Golgi biolink:OntologyClass mondo The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. http://purl.obolibrary.org/obo/GO_0048199 Golgi vesicle targeting|dictyosome vesicle targeting|vesicle targeting, to, from or within dictyosome GO:0048193 Golgi vesicle transport biolink:OntologyClass mondo The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. http://purl.obolibrary.org/obo/GO_0048193 Golgi-derived vesicle transport HGNC:8818 SLC26A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/8818 HGNC:8819 PDXK biolink:OntologyClass mondo http://identifiers.org/hgnc/8819 HGNC:8820 PDYN biolink:OntologyClass mondo http://identifiers.org/hgnc/8820 HGNC:8824 SERPINF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8824 ENVO:01001700 Antarctic front biolink:OntologyClass mondo A polar front between the deep, cold Antarctic air and the shallower, warmer polar air of southern latitudes on Earth. http://purl.obolibrary.org/obo/ENVO_01001700 UBERON:0001913 milk biolink:AnatomicalEntity mondo An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation. http://purl.obolibrary.org/obo/UBERON_0001913 mammary gland milk|mammal milk|milk UBERON:0001916 endothelium of arteriole biolink:AnatomicalEntity mondo An endothelium that is part of an arteriole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001916 arteriole endothelium UBERON:0001915 endothelium of capillary biolink:AnatomicalEntity mondo An endothelium that is part of a capillary [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001915 blood capillary endothelium|capillary vessel endothelium|capillary endothelium|endothelium of capillary vessel|endothelium of blood capillary UBERON:0001912 lobule of mammary gland biolink:AnatomicalEntity mondo Organ component of the mammary gland which consists of an aggregate of mammary alveoli that communicate with a lobular lactiferous duct.[FMA] http://purl.obolibrary.org/obo/UBERON_0001912 mammary gland lobule|lactiferous acinus|acinus of mammary gland|lobule of lactiferous gland|lactiferous lobule|mammary acinus|lactiferous gland lobule|lobule of mammary gland UBERON:0001911 mammary gland biolink:AnatomicalEntity mondo A specialized accessory gland of the skin of mammals that secretes milk. The gland is typically only developed in females, and regresses in males. http://purl.obolibrary.org/obo/UBERON_0001911 milk patch|mamma|glandula mammaria|mammae|lobe of breast|lobe of mammary gland|Brustdruese|dug|glandula mammaria|lactiferous gland CHEBI:26375 pterins biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26375 UBERON:0001918 endothelium of venule biolink:AnatomicalEntity mondo An endothelium that is part of a venule [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001918 venule endothelium UBERON:0001917 endothelium of artery biolink:AnatomicalEntity mondo An endothelium that is part of an artery [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001917 artery endothelium|arterial endothelium UBERON:0001919 endothelium of vein biolink:AnatomicalEntity mondo An endothelium that is part of a vein [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001919 venous endothelium|vein endothelium|veinous endothelium NCBITaxon:1335626 Middle East respiratory syndrome-related coronavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1335626 MERS virus|MERS-CoV|Middle East respiratory syndrome coronavirus|MERS|Middle East Respiratory Syndrome Coronavirus (MERS-CoV)|MERS coronavirus CHEBI:26373 pteridines biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26373 GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. http://purl.obolibrary.org/obo/GO_0061178 regulation of insulin secretion in response to glucose GO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. http://purl.obolibrary.org/obo/GO_0061179 negative regulation of insulin secretion in response to glucose|negative regulation of insulin secretion involved in cellular response to glucose HGNC:8847 PER3 biolink:OntologyClass mondo http://identifiers.org/hgnc/8847 HGNC:8846 PER2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8846 HGNC:8840 PEPD biolink:OntologyClass mondo http://identifiers.org/hgnc/8840 GO:0002820 negative regulation of adaptive immune response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/GO_0002820 down regulation of adaptive immune response|inhibition of adaptive immune response|down-regulation of adaptive immune response|downregulation of adaptive immune response GO:0002821 positive regulation of adaptive immune response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/GO_0002821 upregulation of adaptive immune response|stimulation of adaptive immune response|up regulation of adaptive immune response|up-regulation of adaptive immune response|activation of adaptive immune response GO:0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/GO_0002822 UBERON:0001987 placenta biolink:AnatomicalEntity mondo organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. http://purl.obolibrary.org/obo/UBERON_0001987 allantoic placenta|eutherian placenta UBERON:0001986 endothelium biolink:AnatomicalEntity mondo A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA] http://purl.obolibrary.org/obo/UBERON_0001986 UBERON:0001988 feces biolink:AnatomicalEntity mondo Portion of semisolid bodily waste discharged through the anus[MW,modified] http://purl.obolibrary.org/obo/UBERON_0001988 ordure|portion of feces|matières fécales@fr|fecal matter|portion of fecal matter|portion of excrement|spoor|merde@fr|portion of dung|dung|partie de la merde@fr|droppings|excrement|teil der fäkalien@de|frass|stool|guano|portion of guano|fewmet|spraint|portion of scat|scat|fecal material|portion of fecal material|portion of faeces|faeces|piece of shit|portionem cacas|porción de mierda@es|excreta|cow dung|cow pat CHEBI:26348 prosthetic group biolink:ChemicalSubstance mondo A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. http://purl.obolibrary.org/obo/CHEBI_26348 groupe prosthetique|prosthetic group|prosthetic groups HGNC:8854 PEX12 biolink:OntologyClass mondo http://identifiers.org/hgnc/8854 HGNC:8853 PEX11B biolink:OntologyClass mondo http://identifiers.org/hgnc/8853 HGNC:8856 PEX14 biolink:OntologyClass mondo http://identifiers.org/hgnc/8856 HGNC:8855 PEX13 biolink:OntologyClass mondo http://identifiers.org/hgnc/8855 HGNC:8858 PEX3 biolink:OntologyClass mondo http://identifiers.org/hgnc/8858 HGNC:8857 PEX16 biolink:OntologyClass mondo http://identifiers.org/hgnc/8857 HGNC:8859 PEX6 biolink:OntologyClass mondo http://identifiers.org/hgnc/8859 GO:0002827 positive regulation of T-helper 1 type immune response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response. http://purl.obolibrary.org/obo/GO_0002827 up regulation of T-helper 1 type immune response|activation of T-helper 1 type immune response|stimulation of T-helper 1 type immune response|upregulation of T-helper 1 type immune response|up-regulation of T-helper 1 type immune response UBERON:0001994 hyaline cartilage tissue biolink:AnatomicalEntity mondo Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. http://purl.obolibrary.org/obo/UBERON_0001994 chondroid cartilage|hyaline cartilage GO:0002828 regulation of type 2 immune response biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/GO_0002828 regulation of T-helper 2 type immune response|regulation of Th2 immune response UBERON:0001996 elastic cartilage tissue biolink:AnatomicalEntity mondo Cartilage tissue that is flexible and contains abundant elastic fibers. http://purl.obolibrary.org/obo/UBERON_0001996 yellow elastic cartilage tissue|yellow cartilage|reticular cartilage|yellow elastic cartilage|elastic cartilage tissue|elastic cartilage GO:0002829 negative regulation of type 2 immune response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/GO_0002829 inhibition of type 2 immune response|down-regulation of type 2 immune response|negative regulation of T-helper 2 type immune response|negative regulation of Th2 immune response|downregulation of type 2 immune response|down regulation of type 2 immune response UBERON:0001995 fibrocartilage biolink:AnatomicalEntity mondo Cartilage tissue intermediate between hyaline cartilage and dense connective tissue; contains of abundant collagen fibers; chondrocytes often arranged in columns. http://purl.obolibrary.org/obo/UBERON_0001995 fibrocartilage tissue|stratified cartilage tissue HGNC:8850 PEX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8850 GO:0002823 negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/GO_0002823 CHEBI:38323 cholinergic drug biolink:ChemicalSubstance mondo Any drug used for its actions on cholinergic systems. Included here are agonists and antagonists, drugs that affect the life cycle of acetylcholine, and drugs that affect the survival of cholinergic neurons. http://purl.obolibrary.org/obo/CHEBI_38323 cholinomimetic|cholinergic agent|cholinergic drugs GO:0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/GO_0002824 GO:0097159 organic cyclic compound binding biolink:OntologyClass mondo Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. http://purl.obolibrary.org/obo/GO_0097159 GO:0002825 regulation of T-helper 1 type immune response biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of a T-helper 1 type immune response. http://purl.obolibrary.org/obo/GO_0002825 HGNC:8851 PEX10 biolink:OntologyClass mondo http://identifiers.org/hgnc/8851 GO:0002826 negative regulation of T-helper 1 type immune response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of a T-helper 1 type immune response. http://purl.obolibrary.org/obo/GO_0002826 down-regulation of T-helper 1 type immune response|down regulation of T-helper 1 type immune response|inhibition of T-helper 1 type immune response|downregulation of T-helper 1 type immune response GO:0002830 positive regulation of type 2 immune response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/GO_0002830 up regulation of type 2 immune response|stimulation of type 2 immune response|up-regulation of type 2 immune response|activation of type 2 immune response|positive regulation of T-helper 2 type immune response|upregulation of type 2 immune response|positive regulation of Th2 immune response UBERON:0001979 venule biolink:AnatomicalEntity mondo One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins http://purl.obolibrary.org/obo/UBERON_0001979 venula MONDO:0002700 obsolete epithelioid trophoblastic tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002700 GO:0002831 regulation of response to biotic stimulus biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of a response to biotic stimulus. http://purl.obolibrary.org/obo/GO_0002831 MONDO:0002701 ovarian mucinous cystadenocarcinoma biolink:Disease mondo DOID:3604|EFO:1001963|NCIT:C4026|SCTID:254851009|UMLS:C0279665 An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis. UMLS:C0279665|SNOMEDCT:254851009|DOID:3604|NCIT:C4026 http://purl.obolibrary.org/obo/MONDO_0002701 ovarian mucinous cystadenocarcinoma|mucinous cystadenocarcinoma of the ovary|mucinous cystadenocarcinoma of ovary|ovary mucinous cystadenocarcinoma GO:0002832 negative regulation of response to biotic stimulus biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus. http://purl.obolibrary.org/obo/GO_0002832 down-regulation of response to biotic stimulus|down regulation of response to biotic stimulus|inhibition of response to biotic stimulus|downregulation of response to biotic stimulus GO:0002833 positive regulation of response to biotic stimulus biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus. http://purl.obolibrary.org/obo/GO_0002833 activation of response to biotic stimulus|stimulation of response to biotic stimulus|upregulation of response to biotic stimulus|up-regulation of response to biotic stimulus|up regulation of response to biotic stimulus MONDO:0002702 ovarian cystadenocarcinoma biolink:Disease mondo EFO:1001962|NCIT:C5228|SCTID:314191009|UMLS:C1096638|DOID:3605 An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma. SNOMEDCT:314191009|UMLS:C1096638|DOID:3605|NCIT:C5228 http://purl.obolibrary.org/obo/MONDO_0002702 cystadenocarcinoma of the ovary|cystadenocarcinoma of ovary|ovarian cystadenocarcinoma|ovary cystadenocarcinoma UBERON:0001976 epithelium of esophagus biolink:AnatomicalEntity mondo the epithelial layer that lines the luminal space of the esophagus http://purl.obolibrary.org/obo/UBERON_0001976 epithelial tissue of oesophagus|epithelial tissue of gullet|epithelium of oesophagus|epithelium of gullet|gullet epithelium|esophagus epithelium|epithelial tissue of esophagus|oesophagus epithelial tissue|esophageal epithelium|gullet epithelial tissue|esophagus epithelial tissue|oesophagus epithelium UBERON:0001975 serosa of esophagus biolink:AnatomicalEntity mondo A serous membrane that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001975 gullet serous membrane|esophagus serous membrane|serosa of gullet|esophagus serosa|gullet serosa|serous membrane of esophagus|serous membrane of oesophagus|serosa of abdominal part of esophagus|tunica serosa oesophageae|serous membrane of gullet|oesophagus serosa|serous coat of oesophagus|oesophagus serous membrane|serosa of oesophagus UBERON:0001978 parenchyma of pancreas biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0001978 pancreas parenchyma|pancreatic parenchyma UBERON:0011300 gray matter of telencephalon biolink:AnatomicalEntity mondo A portion of gray matter that is part of a telencephalon. http://purl.obolibrary.org/obo/UBERON_0011300 predominantly gray regional part of telencephalon CHEBI:38338 aminopyrimidine biolink:ChemicalSubstance mondo A member of the class of pyrimidines that is pyrimidine substituted by at least one amino group and its derivatives. http://purl.obolibrary.org/obo/CHEBI_38338 aminopyrimidines CHEBI:38337 pyrimidone biolink:ChemicalSubstance mondo A pyrimidine carrying one or more oxo substituents. http://purl.obolibrary.org/obo/CHEBI_38337 pyrimidones HGNC:8864 CFP biolink:OntologyClass mondo http://identifiers.org/hgnc/8864 HGNC:6207 JUP biolink:OntologyClass mondo http://identifiers.org/hgnc/6207 UBERON:0001982 capillary biolink:AnatomicalEntity mondo Any of the smallest blood vessels connecting arterioles with venules. http://purl.obolibrary.org/obo/UBERON_0001982 blood capillary|capillary vessel UBERON:0001985 corneal endothelium biolink:AnatomicalEntity mondo A monolayer of specialized, flattened, mitochondria-rich cells that lines the posterior surface of the cornea and faces the anterior chamber of the eye[WP]. http://purl.obolibrary.org/obo/UBERON_0001985 endothelium of cornea|epithelium posterius corneae|cornea endothelium HGNC:8860 PEX7 biolink:OntologyClass mondo http://identifiers.org/hgnc/8860 UBERON:0001981 blood vessel biolink:AnatomicalEntity mondo A vessel through which blood circulates in the body. http://purl.obolibrary.org/obo/UBERON_0001981 region of vascular tree organ|vas sanguineum|vascular tree organ region|vascular element UBERON:0001980 arteriole biolink:AnatomicalEntity mondo The smallest division of the artery located between the muscular arteries and the capillaries[GO]. http://purl.obolibrary.org/obo/UBERON_0001980 arteriola UBERON:0001969 blood plasma biolink:AnatomicalEntity mondo The liquid component of blood, in which erythrocytes are suspended. http://purl.obolibrary.org/obo/UBERON_0001969 plasma|portion of plasma|blood plasm|portion of blood plasma UBERON:0001968 semen biolink:AnatomicalEntity mondo Organism substance that is composed of sperm cells suspended in seminal fluid. http://purl.obolibrary.org/obo/UBERON_0001968 ejaculate|sperm HGNC:6215 KARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6215 HGNC:8877 PFKM biolink:OntologyClass mondo http://identifiers.org/hgnc/8877 HGNC:6217 KATNB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6217 HGNC:6218 KCNA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6218 UBERON:0001972 submucosa of esophagus biolink:AnatomicalEntity mondo A submucosa that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001972 tela submucosa esophagi|submucosa of esophagus|tela submucosa oesophageae|oesophagus submucosa|esophagus submucosa|gullet submucosa|submucous layer of esophagus|tela submucosa oesophagi|tela submucosa of esophagus|tela submucosa (oesophagus)|submucosa of oesophagus|submucosa of gullet|esophageal submucosa UBERON:0001971 gastric juice biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0001971 stomach secretion|succus gastricus UBERON:0001974 lamina propria of esophagus biolink:AnatomicalEntity mondo A lamina propria that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001974 lamina propria of oesophagus|esophagus lamina propria mucosae|gullet lamina propria mucosae|lamina propria of gullet|oesophagus lamina propria mucosae|lamina propria mucosa of oesophagus|gullet lamina propria|esophagus lamina propria|lamina propria mucosa of gullet|lamina propria mucosa of esophagus|oesophagus lamina propria|lamina propria mucosae of esophagus|lamina propria mucosae of oesophagus|esophageal lamina propria|oesophagus lamina propria mucosa|gullet lamina propria mucosa|lamina propria mucosae of gullet|esophagus lamina propria mucosa HGNC:6210 CD82 biolink:OntologyClass mondo http://identifiers.org/hgnc/6210 UBERON:0001970 bile biolink:AnatomicalEntity mondo vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. http://purl.obolibrary.org/obo/UBERON_0001970 fel|gall HGNC:6211 ANOS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6211 UBERON:0001958 terminal bronchiole epithelium biolink:AnatomicalEntity mondo An epithelium that lines a terminal bronchiole. http://purl.obolibrary.org/obo/UBERON_0001958 epithelium of bronchiolus terminalis|epithelium of terminal bronchiole|epithelial tissue of terminal bronchiole|bronchiolus terminalis epithelium|terminal bronchiole epithelium|terminal bronchiole epithelial tissue|bronchiolus terminalis epithelial tissue|epithelial tissue of bronchiolus terminalis UBERON:0001957 submucosa of bronchus biolink:AnatomicalEntity mondo A submucosa that is part of a bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001957 bronchi submucosa|bronchial trunk submucosa|submucous layer of bronchi|bronchus submucosa|bronchial submucosa|tela submucosa bronchi|submucosa of bronchi|submucosa of bronchial trunk UBERON:0001959 white pulp of spleen biolink:AnatomicalEntity mondo the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies http://purl.obolibrary.org/obo/UBERON_0001959 pulpa alba|spleen white pulp|white pulp|splenic white pulp|noduli lymphoidei splenici UBERON:0001954 Ammon's horn biolink:AnatomicalEntity mondo A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. http://purl.obolibrary.org/obo/UBERON_0001954 Ammon's horn|hippocampus major|ammon horn|hippocampus proper|cornu ammonis|Ammon horn fields|ammon gyrus|Ammons horn|hippocampus proprius|hippocampus UBERON:0001956 cartilage of bronchus biolink:AnatomicalEntity mondo The hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles[MP]. http://purl.obolibrary.org/obo/UBERON_0001956 bronchial cartilage ring|bronchi cartilage|bronchial trunk cartilage|cartilage of bronchi|cartilage of bronchial trunk|bronchus cartilage|bronchial cartilage|cartilagines bronchiales UBERON:0001955 epithelium of respiratory bronchiole biolink:AnatomicalEntity mondo An epithelium that is part of a respiratory bronchiole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001955 epithelium of bronchiolus respiratorius|epithelial tissue of bronchiolus respiratorius|respiratory bronchiole epithelial tissue|bronchiolus respiratorius epithelial tissue|bronchiolus respiratorius epithelium|respiratory bronchiole epithelium|epithelial tissue of respiratory bronchiole HGNC:6224 KCNA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/6224 HGNC:8889 PGAM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8889 CHEBI:38313 diazines biolink:ChemicalSubstance mondo Any organic heterocyclic compound containing a benzene ring in which two of the C-H fragments have been replaced by isolobal nitrogens (the diazine parent structure). http://purl.obolibrary.org/obo/CHEBI_38313 UBERON:0001961 mucosa-associated lymphoid tissue biolink:AnatomicalEntity mondo diffuse system of small concentrations of lymphoid tissue found in various sites of the body such as the gastrointestinal tract, thyroid, breast, lung, salivary glands, eye, and skin[WP]. Mucosal-associated lymphoid tissue is typically found as nodules associated with mucosal epithelia with distinct internal structures including B- and T-zones for the activation of lymphocytes[GO]. http://purl.obolibrary.org/obo/UBERON_0001961 MALT|mucosal-associated lymphoid tissue|mucosa associated lymphatic tissue|mucosa associated lymphoid tissue|mucosal-associated lymphatic tissue|epithelio-lymphoid tissue|mucosa-associated lymphoid tissue UBERON:0001963 bronchial-associated lymphoid tissue biolink:AnatomicalEntity mondo A diffuse collection of lymphpoid cells that participate in airway immune responses http://purl.obolibrary.org/obo/UBERON_0001963 BALT|bronchus associated lymphoid tissue GO:0002818 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0002818 HGNC:8881 PFN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8881 UBERON:0001962 gut-associated lymphoid tissue biolink:AnatomicalEntity mondo Mucosa-associated lymphoid tissue in digestive tract. includes Peyer's patches, appendix, and solitary lymph nodules[GO]. http://purl.obolibrary.org/obo/UBERON_0001962 gut associated lymphoid tissue|GALT GO:0002819 regulation of adaptive immune response biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/GO_0002819 HGNC:6220 KCNA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6220 HGNC:8885 PGA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/8885 ENVO:01001646 amorphous solid biolink:OntologyClass mondo A solid material which does not have a regularly organised internal structure. http://purl.obolibrary.org/obo/ENVO_01001646 ENVO:01001645 gaseous part of an atmosphere biolink:OntologyClass mondo That part of an atmosphere which is composed of gaseous material. http://purl.obolibrary.org/obo/ENVO_01001645 GO:1903509 liposaccharide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving liposaccharide. http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolism GO:1903508 positive regulation of nucleic acid-templated transcription biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/GO_1903508 up regulation of nucleic acid-templated transcription|up-regulation of nucleic acid-templated transcription|activation of nucleic acid-templated transcription|upregulation of nucleic acid-templated transcription GO:1903507 negative regulation of nucleic acid-templated transcription biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/GO_1903507 downregulation of nucleic acid-templated transcription|down regulation of nucleic acid-templated transcription|inhibition of nucleic acid-templated transcription|down-regulation of nucleic acid-templated transcription GO:1903506 regulation of nucleic acid-templated transcription biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/GO_1903506 CL:0011026 progenitor cell biolink:Cell mondo A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. http://purl.obolibrary.org/obo/CL_0011026 CHEBI:63299 carbohydrate derivative biolink:ChemicalSubstance mondo Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. http://purl.obolibrary.org/obo/CHEBI_63299 derivatized carbohydrates|derivatized carbohydrate|carbohydrate derivatives|derivatised carbohydrates|derivatised carbohydrate GO:0048103 somatic stem cell division biolink:OntologyClass mondo The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/GO_0048103 somatic stem cell renewal NCBITaxon:1264872 Basidiobolales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1264872 ENVO:01001639 formation of a solid aerosol from liquid material in an atmosphere biolink:OntologyClass mondo A process during which microscopic solid particulates are formed from liquid materials in an atmosphere. http://purl.obolibrary.org/obo/ENVO_01001639 formation of solid particles from liquid material in an atmosphere|formation of a solid aerosol in the atmosphere|formation of a solid aerosol in an atmosphere|atmospheric formation of a solid aerosol CL:0011012 neural crest cell biolink:Cell mondo A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. http://purl.obolibrary.org/obo/CL_0011012 GO:1903510 mucopolysaccharide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving mucopolysaccharide. http://purl.obolibrary.org/obo/GO_1903510 mucopolysaccharide metabolism MONDO:0024182 dry beriberi biolink:Disease mondo DOID:0070318|ICD10CM:E51.11 DOID:0070318 http://purl.obolibrary.org/obo/MONDO_0024182 endemic neuritis GO:1903524 positive regulation of blood circulation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of blood circulation. http://purl.obolibrary.org/obo/GO_1903524 upregulation of hemolymph circulation|up-regulation of blood circulation|activation of hemolymph circulation|up regulation of blood circulation|activation of blood circulation|up-regulation of hemolymph circulation|up regulation of hemolymph circulation|upregulation of blood circulation|positive regulation of hemolymph circulation GO:1903523 negative regulation of blood circulation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation. http://purl.obolibrary.org/obo/GO_1903523 down regulation of blood circulation|negative regulation of hemolymph circulation|down-regulation of hemolymph circulation|inhibition of blood circulation|downregulation of blood circulation|down regulation of hemolymph circulation|downregulation of hemolymph circulation|down-regulation of blood circulation|inhibition of hemolymph circulation MONDO:0024183 wet beriberi biolink:Disease mondo DOID:0070317|ICD10CM:E51.12 DOID:0070317 http://purl.obolibrary.org/obo/MONDO_0024183 HGNC:25382 TMEM126A biolink:OntologyClass mondo http://identifiers.org/hgnc/25382 GO:1903522 regulation of blood circulation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of blood circulation. http://purl.obolibrary.org/obo/GO_1903522 regulation of hemolymph circulation NCBITaxon:1264859 Entomophthoromycotina organism taxon mondo PMID:27738200|PMID:17572334|PMID:17051209|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1264859 Zygomycota|Entomophthoromycota GO:0051784 negative regulation of nuclear division biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. http://purl.obolibrary.org/obo/GO_0051784 inhibition of nuclear division|down-regulation of nuclear division|downregulation of nuclear division|down regulation of nuclear division GO:0051785 positive regulation of nuclear division biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. http://purl.obolibrary.org/obo/GO_0051785 upregulation of nuclear division|stimulation of nuclear division|up regulation of nuclear division|up-regulation of nuclear division|activation of nuclear division MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome biolink:Disease mondo UMLS:C1836823|MESH:C563798|Orphanet:300333|OMIM:609057 http://identifiers.org/omim/609057|ORPHA:300333|MESH:C563798|UMLS:C1836823 http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome|nephropathy with pretibial epidermolysis bullosa and deafness ordo_disease ENVO:01001652 atmospheric aerosol biolink:OntologyClass mondo An aerosol that is suspended in an atmosphere. http://purl.obolibrary.org/obo/ENVO_01001652 ENVO:01001654 aerosol formation process biolink:OntologyClass mondo A material transformation process during which solid or liquid particles form and are suspended in a mass of air, thus creating an aerosol. http://purl.obolibrary.org/obo/ENVO_01001654 MONDO:0024171 radio-digito-facial dysplasia biolink:Disease mondo GARD:0004629 http://purl.obolibrary.org/obo/MONDO_0024171 Van Goethem syndrome gard_rare HGNC:25396 FREM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25396 GO:1903532 positive regulation of secretion by cell biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of secretion by cell. http://purl.obolibrary.org/obo/GO_1903532 positive regulation of cellular secretion|up regulation of secretion by cell|up regulation of cellular secretion|activation of secretion by cell|up-regulation of cellular secretion|activation of cellular secretion|upregulation of secretion by cell|upregulation of cellular secretion|up-regulation of secretion by cell GO:0048137 spermatocyte division biolink:OntologyClass mondo The meiotic divisions undergone by the primary and secondary spermatocytes to produce haploid spermatids. http://purl.obolibrary.org/obo/GO_0048137 spermatocyte cell division GO:1903531 negative regulation of secretion by cell biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of secretion by cell. http://purl.obolibrary.org/obo/GO_1903531 downregulation of cellular secretion|down-regulation of secretion by cell|down regulation of cellular secretion|down regulation of secretion by cell|inhibition of cellular secretion|down-regulation of cellular secretion|negative regulation of cellular secretion|inhibition of secretion by cell|downregulation of secretion by cell GO:1903530 regulation of secretion by cell biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of secretion by cell. http://purl.obolibrary.org/obo/GO_1903530 regulation of cellular secretion MONDO:0012199 posterior polymorphous corneal dystrophy 2 biolink:Disease mondo ICD10:H18.50|UMLS:C1852795|OMIM:609140|DOID:0110856|MESH:C565176 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. DOID:0110856|UMLS:C1852795|http://identifiers.org/omim/609140|MESH:C565176 http://purl.obolibrary.org/obo/MONDO_0012199 COL8A2 posterior polymorphous corneal dystrophy|corneal dystrophy, posterior polymorphous, type 2|posterior polymorphous corneal dystrophy type 2|posterior polymorphous corneal dystrophy caused by mutation in COL8A2|PPCD2|corneal dystrophy, POSTERIOR polymorphous, 2|corneal dystrophy, POSTERIOR polymorphous, 2; PPCD2|Ppcd2 CHEBI:51270 tetracenes biolink:ChemicalSubstance mondo Compounds containing a tetracene skeleton. http://purl.obolibrary.org/obo/CHEBI_51270 naphthacenes MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G biolink:Disease mondo SCTID:719990003|MESH:C563794|DOID:0110306|OMIM:609115|Orphanet:55596|ICD10:G71.0|GARD:0012531 Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. http://identifiers.org/omim/609115|SNOMEDCT:719990003|ORPHA:55596|DOID:0110306|MESH:C563794 http://purl.obolibrary.org/obo/MONDO_0012193 HNRNPDL autosomal dominant limb-girdle muscular dystrophy|LGMD1G|autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL|muscular dystrophy limb-girdle type 1G|limb-girdle muscular dystrophy, type 1G; LGMD1G|limb-girdle muscular dystrophy, type 1G|limb-girdle muscular dystrophy type 1G ordo_disease MONDO:0012194 ANIB3 biolink:Disease mondo OMIM:609122|UMLS:C1836757|MESH:C563792 UMLS:C1836757|http://identifiers.org/omim/609122|MESH:C563792 http://purl.obolibrary.org/obo/MONDO_0012194 aneurysm, intracranial BERRY, 3; ANIB3|ANIB3|aneurysm, intracranial BERRY, 3 MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 biolink:Disease mondo MESH:C563797|Orphanet:137681|OMIM:609060|NCIT:C125663|SCTID:764962002|UMLS:C1836797|ICD10:E88.8 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. http://identifiers.org/omim/609060|ORPHA:137681|SNOMEDCT:764962002|MESH:C563797|UMLS:C1836797|NCIT:C125663 http://purl.obolibrary.org/obo/MONDO_0012191 GFM1 combined oxidative phosphorylation deficiency|COXPD1|combined oxidative phosphorylation deficiency type 1|combined oxidative phosphorylation deficiency caused by mutation in GFM1|combined oxidative phosphorylation deficiency 1|Hepatoencephalopathy, early fatal progressive|Hepatoencephalopathy due to COXPD1|combined oxidative phosphorylation deficiency 1; COXPD1 ordo_disease MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome biolink:Disease mondo MESH:C563796|UMLS:C1836780|Orphanet:65288|OMIM:609069 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. http://identifiers.org/omim/609069|ORPHA:65288|MESH:C563796|UMLS:C1836780 http://purl.obolibrary.org/obo/MONDO_0012192 diabetes mellitus, permanent neonatal, with cerebellar agenesis|pancreatic and cerebellar agenesis; paca|pancreatic and cerebellar agenesis|paca ordo_malformation_syndrome MONDO:0012197 idiopathic aplastic anemia biolink:Disease mondo MESH:C538494|SCTID:191256002|NCIT:C61230|ICD10:D61.0|Orphanet:88|UMLS:C0348890|ICD10:D61.3|GARD:0005836|OMIM:609135 Aplastic anemia without a known cause. ORPHA:88|UMLS:C0348890|http://identifiers.org/omim/609135|MESH:C538494|NCIT:C61230|SNOMEDCT:191256002 http://purl.obolibrary.org/obo/MONDO_0012197 secondary aplastic anemia|aplastic anemia idiopathic|anemia aplastic|idiopathic bone marrow failure|aplastic Anemia, susceptibility to|aplastic anemia|idiopathic aplastic aplasia ordo_disease GO:0051782 negative regulation of cell division biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cell division. http://purl.obolibrary.org/obo/GO_0051782 down-regulation of cell division|down regulation of cell division|inhibition of cell division|downregulation of cell division MONDO:0012198 PCWH syndrome biolink:Disease mondo UMLS:CN239463|MESH:C563789|ICD10:E75.2|UMLS:C1836727|DOID:0090111|OMIM:609136|Orphanet:163746 Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. MESH:C563789|UMLS:C1836727|http://identifiers.org/omim/609136|UMLS:CN239463|DOID:0090111|ORPHA:163746 http://purl.obolibrary.org/obo/MONDO_0012198 peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease|WS4 plus|peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome|peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; PCWH|neurologic Waardenburg-Shah syndrome|peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease|Waardenburg-Shah syndrome, neurologic variant|PCWH ordo_disease UBERON:4300226 forelimb bud mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a forelimb bud. http://purl.obolibrary.org/obo/UBERON_4300226 GO:0051783 regulation of nuclear division biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. http://purl.obolibrary.org/obo/GO_0051783 MONDO:0012195 arthrogryposis-severe scoliosis syndrome biolink:Disease mondo SCTID:715575001|ICD10:Q68.8|OMIM:609128|MESH:C563791|Orphanet:65720|UMLS:C1836756 Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. MESH:C563791|UMLS:C1836756|ORPHA:65720|http://identifiers.org/omim/609128|SNOMEDCT:715575001 http://purl.obolibrary.org/obo/MONDO_0012195 DA4|arthrogryposis with Severe scoliosis|arthrogryposis, distal, type 4; DA4|arthrogryposis, distal, type 4|distal arthrogryposis type IID|distal arthrogryposis type 4|arthrogryposis, distal, type 2D ordo_malformation_syndrome UBERON:4300227 hindlimb bud mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a hindlimb bud. http://purl.obolibrary.org/obo/UBERON_4300227 MONDO:0012196 autosomal dominant auditory neuropathy 1 biolink:Disease mondo OMIM:609129|DOID:0060690|UMLS:C1836743|ICD10:H90.3|MESH:C563790 Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene. DOID:0060690|MESH:C563790|UMLS:C1836743|http://identifiers.org/omim/609129 http://purl.obolibrary.org/obo/MONDO_0012196 autosomal dominant auditory neuropathy type 1|auditory neuropathy, autosomal dominant, 1; AUNA1|auditory neuropathy caused by mutation in DIAPH3|DIAPH3 auditory neuropathy|auditory neuropathy, nonsyndromic dominant|auditory neuropathy, autosomal dominant, type 1|AUNA1|NSDAN|nonsyndromic dominant auditory neuropathy|auditory neuropathy, autosomal dominant, 1 GO:0051781 positive regulation of cell division biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cell division. http://purl.obolibrary.org/obo/GO_0051781 up regulation of cell division|activation of cell division|stimulation of cell division|upregulation of cell division|up-regulation of cell division ENVO:01001602 Eritrean Coastal Desert Ecoregion biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001602 GO:0051797 regulation of hair follicle development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of hair follicle development. http://purl.obolibrary.org/obo/GO_0051797 ENVO:01001601 Ethiopian Xeric Grasslands and Shrublands Ecoregion biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001601 GO:0000122 negative regulation of transcription by RNA polymerase II biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/GO_0000122 down-regulation of global transcription from RNA polymerase II promoter|negative regulation of transcription from Pol II promoter|downregulation of transcription from RNA polymerase II promoter|inhibition of global transcription from RNA polymerase II promoter|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of global transcription from Pol II promoter|inhibition of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, global|downregulation of global transcription from RNA polymerase II promoter|down-regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|down regulation of global transcription from RNA polymerase II promoter|down regulation of transcription from RNA polymerase II promoter GO:0051798 positive regulation of hair follicle development biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of hair follicle development. http://purl.obolibrary.org/obo/GO_0051798 up-regulation of hair follicle development|up regulation of hair follicle development|activation of hair follicle development|stimulation of hair follicle development|upregulation of hair follicle development ENVO:01001604 Oman, Yemen, and Saudi Arabia Ecoregion biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001604 Western Asia: Oman, Yemen, and Saudi Arabia Ecoregion ENVO:01001603 East Saharan Montane Xeric Woodland Ecoregion biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001603 North central Africa: Eastern Chad and small area of western Sudan CHEBI:51269 acenes biolink:ChemicalSubstance mondo Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. http://purl.obolibrary.org/obo/CHEBI_51269 GO:0051799 negative regulation of hair follicle development biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle development. http://purl.obolibrary.org/obo/GO_0051799 down-regulation of hair follicle development|down regulation of hair follicle development|inhibition of hair follicle development|downregulation of hair follicle development ENVO:01001600 Oman and United Arab Emirates Ecoregion biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001600 Arabian Peninsula: Oman and United Arab Emirates Ecoregion GO:0002784 regulation of antimicrobial peptide production biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of antimicrobial peptide production. http://purl.obolibrary.org/obo/GO_0002784 GO:0002785 negative regulation of antimicrobial peptide production biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production. http://purl.obolibrary.org/obo/GO_0002785 down regulation of antimicrobial peptide production|inhibition of antimicrobial peptide production|down-regulation of antimicrobial peptide production|downregulation of antimicrobial peptide production ENVO:01001609 cryospheric layer biolink:OntologyClass mondo A layer which is part of a cryosphere. http://purl.obolibrary.org/obo/ENVO_01001609 HGNC:25360 DDX59 biolink:OntologyClass mondo http://identifiers.org/hgnc/25360 HGNC:25367 CCDC8 biolink:OntologyClass mondo http://identifiers.org/hgnc/25367 ENVO:01001605 Aldabra Island Xeric Scrub Ecoregion biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001605 GO:1903551 regulation of extracellular exosome assembly biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly. http://purl.obolibrary.org/obo/GO_1903551 regulation of extracellular vesicular exosome assembly HGNC:13387 NEK8 biolink:OntologyClass mondo http://identifiers.org/hgnc/13387 GO:0099738 cell cortex region biolink:OntologyClass mondo The complete extent of cell cortex that underlies some some region of the plasma membrane. http://purl.obolibrary.org/obo/GO_0099738 perimembrane region GO:0002793 positive regulation of peptide secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of peptide secretion. http://purl.obolibrary.org/obo/GO_0002793 up-regulation of peptide secretion|up regulation of peptide secretion|activation of peptide secretion|stimulation of peptide secretion|upregulation of peptide secretion GO:0002794 regulation of antimicrobial peptide secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion. http://purl.obolibrary.org/obo/GO_0002794 GO:0002795 negative regulation of antimicrobial peptide secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion. http://purl.obolibrary.org/obo/GO_0002795 down-regulation of antimicrobial peptide secretion|down regulation of antimicrobial peptide secretion|downregulation of antimicrobial peptide secretion|inhibition of antimicrobial peptide secretion GO:0002796 positive regulation of antimicrobial peptide secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion. http://purl.obolibrary.org/obo/GO_0002796 up regulation of antimicrobial peptide secretion|activation of antimicrobial peptide secretion|stimulation of antimicrobial peptide secretion|upregulation of antimicrobial peptide secretion|up-regulation of antimicrobial peptide secretion GO:0002790 peptide secretion biolink:OntologyClass mondo The controlled release of a peptide from a cell or a tissue. http://purl.obolibrary.org/obo/GO_0002790 GO:0002791 regulation of peptide secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of peptide secretion. http://purl.obolibrary.org/obo/GO_0002791 GO:0002792 negative regulation of peptide secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion. http://purl.obolibrary.org/obo/GO_0002792 downregulation of peptide secretion|down-regulation of peptide secretion|down regulation of peptide secretion|inhibition of peptide secretion GO:1903553 positive regulation of extracellular exosome assembly biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly. http://purl.obolibrary.org/obo/GO_1903553 upregulation of extracellular vesicular exosome assembly|up regulation of extracellular vesicular exosome assembly|positive regulation of extracellular vesicular exosome assembly|up-regulation of extracellular vesicular exosome assembly|activation of extracellular vesicular exosome assembly GO:1903552 negative regulation of extracellular exosome assembly biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly. http://purl.obolibrary.org/obo/GO_1903552 down regulation of extracellular vesicular exosome assembly|inhibition of extracellular vesicular exosome assembly|negative regulation of extracellular vesicular exosome assembly|down-regulation of extracellular vesicular exosome assembly|downregulation of extracellular vesicular exosome assembly GO:1903561 extracellular vesicle biolink:OntologyClass mondo Any vesicle that is part of the extracellular region. http://purl.obolibrary.org/obo/GO_1903561 microparticle NCBITaxon:649188 Lujo mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_649188 Lujo virus CHEBI:38297 thiabicycloalkane biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38297 thiabicycloalkanes CHEBI:38295 azabicycloalkane biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38295 azabicycloalkanes HGNC:13398 NSDHL biolink:OntologyClass mondo http://identifiers.org/hgnc/13398 HGNC:13394 NPHS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/13394 GO:0002764 immune response-regulating signaling pathway biolink:OntologyClass mondo The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response. http://purl.obolibrary.org/obo/GO_0002764 immune response-regulating signalling pathway ENVO:01001626 Indo-Malay Ecoregion biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001626 GO:0002760 positive regulation of antimicrobial humoral response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response. http://purl.obolibrary.org/obo/GO_0002760 up regulation of antimicrobial humoral response|stimulation of antimicrobial humoral response|up-regulation of antimicrobial humoral response|activation of antimicrobial humoral response|upregulation of antimicrobial humoral response ENVO:01001620 mass of ice and snow biolink:OntologyClass mondo A object which is composed primarily of water-based snow and ice. http://purl.obolibrary.org/obo/ENVO_01001620 GO:0002761 regulation of myeloid leukocyte differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation. http://purl.obolibrary.org/obo/GO_0002761 GO:0002762 negative regulation of myeloid leukocyte differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation. http://purl.obolibrary.org/obo/GO_0002762 down-regulation of myeloid leukocyte differentiation|down regulation of myeloid leukocyte differentiation|inhibition of myeloid leukocyte differentiation|downregulation of myeloid leukocyte differentiation GO:0002763 positive regulation of myeloid leukocyte differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation. http://purl.obolibrary.org/obo/GO_0002763 activation of myeloid leukocyte differentiation|stimulation of myeloid leukocyte differentiation|upregulation of myeloid leukocyte differentiation|up-regulation of myeloid leukocyte differentiation|up regulation of myeloid leukocyte differentiation ENVO:01001628 Northwestern Thorn Scrub Forests biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001628 Southern Asia: Eastern India and western Pakistan GO:1903566 positive regulation of protein localization to cilium biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein localization to cilium. http://purl.obolibrary.org/obo/GO_1903566 upregulation of protein localization to cilium|up regulation of protein localization to cilium|up-regulation of protein localization to cilium|activation of protein localization to cilium GO:1903565 negative regulation of protein localization to cilium biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium. http://purl.obolibrary.org/obo/GO_1903565 down regulation of protein localization to cilium|inhibition of protein localization to cilium|down-regulation of protein localization to cilium|downregulation of protein localization to cilium ENVO:01001627 Thar Desert biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001627 Southern Asia: Western India into Pakistan GO:1903564 regulation of protein localization to cilium biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein localization to cilium. http://purl.obolibrary.org/obo/GO_1903564 GO:0002768 immune response-regulating cell surface receptor signaling pathway biolink:OntologyClass mondo A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell capable of activating, perpetuating, or inhibiting an immune response. http://purl.obolibrary.org/obo/GO_0002768 immune response-regulating cell surface receptor signalling pathway GO:0002775 antimicrobial peptide production biolink:OntologyClass mondo The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. http://purl.obolibrary.org/obo/GO_0002775 GO:0002776 antimicrobial peptide secretion biolink:OntologyClass mondo The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. http://purl.obolibrary.org/obo/GO_0002776 HGNC:25358 RNF170 biolink:OntologyClass mondo http://identifiers.org/hgnc/25358 NCBITaxon:471472 Chlamydia trachomatis 434/Bu organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_471472 Chlamydia trachomatis str. 434/Bu|Chlamydia trachomatis strain 434/Bu ENVO:01001614 ice-bearing permafrost biolink:OntologyClass mondo Permafrost which contains inclusions of water-based ice. http://purl.obolibrary.org/obo/ENVO_01001614 GO:1903579 negative regulation of ATP metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of ATP metabolic process. http://purl.obolibrary.org/obo/GO_1903579 down-regulation of ATP metabolic process|downregulation of ATP metabolism|down regulation of ATP metabolic process|down regulation of ATP metabolism|inhibition of ATP metabolism|inhibition of ATP metabolic process|downregulation of ATP metabolic process|negative regulation of ATP metabolism|down-regulation of ATP metabolism GO:1903578 regulation of ATP metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of ATP metabolic process. http://purl.obolibrary.org/obo/GO_1903578 regulation of ATP metabolism HGNC:25356 SPRTN biolink:OntologyClass mondo http://identifiers.org/hgnc/25356 ENVO:01001617 snow accumulation process biolink:OntologyClass mondo A material accumulation process during which the mass of snow on a surface increases. http://purl.obolibrary.org/obo/ENVO_01001617 HGNC:25355 SLC30A10 biolink:OntologyClass mondo http://identifiers.org/hgnc/25355 ENVO:01001619 snow and ice accumulation process biolink:OntologyClass mondo A material accumulation process during which a accumulation of snow and ice forms or increases in mass. http://purl.obolibrary.org/obo/ENVO_01001619 ENVO:01001618 ice accumulation process biolink:OntologyClass mondo A material accumulation process during which ice forms in an environmental material or an existing accumulation of ice increases in mass. http://purl.obolibrary.org/obo/ENVO_01001618 HGNC:8800 PDGFB biolink:OntologyClass mondo http://identifiers.org/hgnc/8800 GO:1903580 positive regulation of ATP metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of ATP metabolic process. http://purl.obolibrary.org/obo/GO_1903580 upregulation of ATP metabolic process|up-regulation of ATP metabolism|activation of ATP metabolism|up-regulation of ATP metabolic process|upregulation of ATP metabolism|up regulation of ATP metabolic process|activation of ATP metabolic process|positive regulation of ATP metabolism|up regulation of ATP metabolism HGNC:8803 PDGFRA biolink:OntologyClass mondo http://identifiers.org/hgnc/8803 HGNC:8805 PDGFRL biolink:OntologyClass mondo http://identifiers.org/hgnc/8805 HGNC:8804 PDGFRB biolink:OntologyClass mondo http://identifiers.org/hgnc/8804 MONDO:0000157 obsolete episodic pain syndrome, familial biolink:Disease mondo DC:0000616 http://purl.obolibrary.org/obo/MONDO_0000157 HP:0011495 Abnormal corneal epithelium morphology biolink:PhenotypicFeature mondo UMLS:C4023326 Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. http://purl.obolibrary.org/obo/HP_0011495 Abnormality of corneal epithelium MONDO:0000156 trigonocephaly biolink:Disease mondo SCTID:28740008|DC:0000606 SNOMEDCT:28740008 http://purl.obolibrary.org/obo/MONDO_0000156 trigonocephalus|trigonocephaly, isolated|trigonocephalia|trigonocephaly MONDO:0000155 triglyceride storage disease biolink:Disease mondo DC:0000605 An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride. http://purl.obolibrary.org/obo/MONDO_0000155 rare inborn error of sequestering of triglyceride|inborn sequestering of triglyceride disorder|inborn error of sequestering of triglyceride|rare inborn error of sequestering of triglyceride MONDO:0000154 obsolete Trichohepatoenteric syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000154 MONDO:0000159 bone marrow failure syndrome biolink:Disease mondo DC:0000621|UMLS:C2931245|OMIMPS:614675|MESH:C536572 MESH:C536572|UMLS:C2931245 http://purl.obolibrary.org/obo/MONDO_0000159 HGNC:6192 JAK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6192 MONDO:0000158 developmental dysplasia of the hip biolink:Disease mondo UMLS:C1840555|DC:0000618|ICD9:755.63|SCTID:52781008|OMIMPS:142700|EFO:1000648|MESH:D006618 A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. NCIT:C119752|MESH:D006618|UMLS:C1840555|SNOMEDCT:52781008 http://purl.obolibrary.org/obo/MONDO_0000158 congenital acetabular dysplasia|congenital dysplasia of the hip|dysplasia of acetabulum|congenital hip dysplasia HGNC:6193 JAK3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6193 MONDO:0000153 transposition of the great arteries biolink:Disease mondo ICD10:Q20.3|MESH:D014188|NCIT:C84742|Orphanet:216675|DC:0000602|ICD10:Q20.5 A congenital cardiac defect in which two heart vessels are reversed (transposed). NCIT:C84742|ORPHA:216675|MESH:D014188 http://purl.obolibrary.org/obo/MONDO_0000153 transposition of great vessels|great vessels transposition|complete transposition|TGV|TGA|transposition of the great vessels ordo_group_of_disorders MONDO:0000152 thiamine-responsive dysfunction syndrome biolink:Disease mondo OMIMPS:249270|DC:0000600 http://purl.obolibrary.org/obo/MONDO_0000152 MONDO:0000151 symphalangism biolink:Disease mondo SCTID:253975004|DC:0000599 SNOMEDCT:253975004 http://purl.obolibrary.org/obo/MONDO_0000151 MONDO:0000150 obsolete spondylometaphyseal dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000150 MONDO:0026782 chondrodysplasia punctata 2, X-linked dominant biolink:Disease mondo OMIM:302960 http://identifiers.org/omim/302960 http://purl.obolibrary.org/obo/MONDO_0026782 Conradi-Hunermann Syndrome|CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2|Happle Syndrome|Conradi-Hunermann-Happle Syndrome|Cdpxd MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 biolink:Disease mondo GARD:0009928|DOID:0110923|OMIM:608898|MESH:C537251 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene. MESH:C537251|http://identifiers.org/omim/608898|DOID:0110923 http://purl.obolibrary.org/obo/MONDO_0012146 hemophagocytic lymphohistiocytosis, familial, 3; FHL3|familial hemophagocytic lymphohistiocytosis type 3|hemophagocytic lymphohistiocytosis, familial, 3|HPLH3|HLH3|UNC13D genetic hemophagocytic lymphohistiocytosis|FHL3|hemophagocytic lymphohistiocytosis, familial, type 3|Hlh3|Hplh3|genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D gard_rare MONDO:0012147 coronary heart disease, susceptibility to, 5 biolink:Disease mondo OMIM:608901 Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene. http://identifiers.org/omim/608901 http://purl.obolibrary.org/obo/MONDO_0012147 susceptibility to coronary heart disease 5|KALRN coronary artery disease|coronary artery disease caused by mutation in KALRN|coronary artery disease, early-onset|coronary heart disease, susceptibility to, type 5|Chds5|coronary heart disease, susceptibility to, 5 predisposition MONDO:0012144 Waardenburg syndrome type 2D biolink:Disease mondo UMLS:C1837203|MESH:C563839|DOID:0110952|OMIM:608890 Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene. http://identifiers.org/omim/608890|UMLS:C1837203|DOID:0110952|MESH:C563839 http://purl.obolibrary.org/obo/MONDO_0012144 SNAI2 Waardenburg syndrome type 2|Waardenburg syndrome type 2 caused by mutation in SNAI2|Waardenburg syndrome, type 2D|Waardenburg syndrome type IID|WS2D|Waardenburg syndrome, type 2D; WS2D MONDO:0012145 macular degeneration, age-related, 3 biolink:Disease mondo MESH:C563838|OMIM:608895|UMLS:C1837187 Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene. http://identifiers.org/omim/608895|UMLS:C1837187|MESH:C563838 http://purl.obolibrary.org/obo/MONDO_0012145 HNARMD|macular Degeneration, age-related, type 3|macular degeneration, age-related, 3; ARMD3|neuropathy, hereditary, with or without age-related macular degeneration; HNARMD|ARMD3|FBLN5 age-related macular degeneration|neuropathy, hereditary, with or without age-related macular Degeneration|macular degeneration, age-related, 3|age-related macular degeneration caused by mutation in FBLN5 HGNC:13345 LPIN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13345 MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related biolink:Disease mondo EFO:0009161|UMLS:C1837154|OMIM:608902|MESH:C563835 http://identifiers.org/omim/608902|UMLS:C1837154|MESH:C563835 http://purl.obolibrary.org/obo/MONDO_0012148 debrisoquine, poor metabolism of|debrisoquine, ultrarapid metabolism of|drug metabolism, ultrarapid, CYP2D6-related|codeine, ultrarapid metabolism of|sparteine, poor metabolism of|nortriptyline, poor metabolism of|drug metabolism, poor, CYP2D6-related MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 biolink:Disease mondo OMIM:608903 http://identifiers.org/omim/608903 http://purl.obolibrary.org/obo/MONDO_0012149 attention Deficit-hyperactivity disorder, susceptibility to, type 1|Adhd1|attention deficit-hyperactivity disorder, susceptibility to, 1 predisposition MONDO:0012142 orofacial cleft 5 biolink:Disease mondo OMIM:608874|MESH:C563843|UMLS:C1837210 Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene. http://identifiers.org/omim/608874|UMLS:C1837210|MESH:C563843 http://purl.obolibrary.org/obo/MONDO_0012142 cleft lip with or without cleft palate, nonsyndromic, 5|MSX1 orofacial cleft|OFC5|orofacial cleft caused by mutation in MSX1|orofacial cleft 5|orofacial cleft 5; OFC5|orofacial cleft type 5 MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin biolink:Disease mondo MESH:C563840|Orphanet:168577|OMIM:608885|UMLS:C1837206|ICD10:D58.8 http://identifiers.org/omim/608885|UMLS:C1837206|MESH:C563840|ORPHA:168577 http://purl.obolibrary.org/obo/MONDO_0012143 cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis|ChC type 2|sdCHC|stomatin-deficient cryohydrocytosis with neurologic defects; SDCHCN|SDCHCN|stomatin-deficient cryohydrocytosis with neurologic defects|stomatin-deficient cryohydrocytosis ordo_disease MONDO:0012140 obsolete pulmonary function biolink:Disease mondo OMIM:608852 http://identifiers.org/omim/608852 http://purl.obolibrary.org/obo/MONDO_0012140 lung function, accelerated rate of decline In, smoking-related|Plf|pulmonary function MONDO:0012141 orofacial cleft 6, susceptibility to biolink:Disease mondo OMIM:608864 Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene. http://identifiers.org/omim/608864 http://purl.obolibrary.org/obo/MONDO_0012141 orofacial cleft 6, susceptibility to; OFC6|orofacial cleft 6, susceptibility to|cleft lip with or without cleft palate, nonsyndromic, 6|orofacial cleft caused by mutation in IRF6|OFC6|IRF6 orofacial cleft|susceptibility to orofacial cleft 6 predisposition MONDO:0000168 obsolete mental retardation, X-linked, nonsyndromic biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000168 MONDO:0000167 Huntington disease and related disorders biolink:Disease mondo DC:0000649 A grouping for Huntington disease and similar diseases. http://purl.obolibrary.org/obo/MONDO_0000167 MONDO:0026777 VEXAS syndrome biolink:Disease mondo OMIM:301054 http://identifiers.org/omim/301054 http://purl.obolibrary.org/obo/MONDO_0026777 vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome|VEXAS MONDO:0000166 encephalopathy, acute, infection-induced biolink:Disease mondo OMIMPS:610551|UMLS:CN236791|DC:0000646 UMLS:CN236791 http://purl.obolibrary.org/obo/MONDO_0000166 MONDO:0000165 obsolete ectodermal dysplasia-syndactyly syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000165 MONDO:0000169 microphthalmia, isolated, with cataract biolink:Disease mondo OMIMPS:156850|DC:0000657 http://purl.obolibrary.org/obo/MONDO_0000169 MONDO:0000160 epilepsy, familial adult myoclonic biolink:Disease mondo OMIMPS:601068|DC:0000624 http://purl.obolibrary.org/obo/MONDO_0000160 MONDO:0000164 obsolete corneal dystrophy, Fuchs endothelial biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000164 MONDO:0000163 obsolete breast-ovarian cancer, familial, susceptibility to biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000163 predisposition MONDO:0000162 autoimmune thyroid disease, susceptibility to biolink:Disease mondo DC:0000634 http://purl.obolibrary.org/obo/MONDO_0000162 predisposition MONDO:0000161 obsolete adrenal hyperplasia (disease) biolink:Disease mondo DC:0000631|UMLS:C1621895 UMLS:C1621895 http://purl.obolibrary.org/obo/MONDO_0000161 adrenal hyperplasia MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects biolink:Disease mondo OMIM:301044 http://identifiers.org/omim/301044 http://purl.obolibrary.org/obo/MONDO_0026771 DEE85, with or without midline brain defects|EIEE85|epileptic encephalopathy, early infantile, 85, with or without midline brain defects MONDO:0014798 brachydactyly type A1D biolink:Disease mondo DOID:0110978|OMIM:616849|UMLS:C4225183 Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene. UMLS:C4225183|DOID:0110978|http://identifiers.org/omim/616849 http://purl.obolibrary.org/obo/MONDO_0014798 BDA1D|brachydactyly, type A1, D; BDA1D|brachydactyly type A1 caused by mutation in BMPR1B|brachydactyly, type A1, D|BMPR1B brachydactyly type A1 MONDO:0012135 restless legs syndrome, susceptibility to, 2 biolink:Disease mondo UMLS:C1837285|OMIM:608831|GARD:0009710 http://identifiers.org/omim/608831|UMLS:C1837285 http://purl.obolibrary.org/obo/MONDO_0012135 RLS2|restless legs syndrome, susceptibility to, 2|restless legs syndrome, susceptibility to, 2; RLS2 predisposition MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form biolink:Disease mondo ICD10:E71.3|OMIM:608836|UMLS:C1833518|MESH:C563463|Orphanet:228308 The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. UMLS:C1833518|http://identifiers.org/omim/608836|MESH:C563463|ORPHA:228308 http://purl.obolibrary.org/obo/MONDO_0012136 Carnitine palmitoyl transferase II deficiency, lethal systemic form|Carnitine Palmitoyltransferase 2 deficiency, antenatal|Cpt2 deficiency, lethal neonatal|Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal|CPTII, neonatal form|CPT 2 deficiency, lethal neonatal|CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal|Carnitine Palmitoyltransferase 2 deficiency, neonatal|Carnitine palmitoyl transferase deficiency type 2, lethal systemic form|CPT2, lethal systemic form|Carnitine palmitoyl transferase deficiency type 2, neonatal form|CPT2, neonatal form|CPTII, lethal systemic form ordo_clinical_subtype MONDO:0014797 lymphedema, hereditary, type III biolink:Disease mondo EFO:0009153|OMIM:616843|UMLS:C4225184 UMLS:C4225184|http://identifiers.org/omim/616843 http://purl.obolibrary.org/obo/MONDO_0014797 lymphedema, hereditary, III|lymphedema, hereditary, 3|lymphedema, hereditary, type III|LMPH3|lymphedema, hereditary, III; LMPH3|generalized lymphatic dysplasia of Fotiou MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 biolink:Disease mondo DOID:0060896|OMIM:616840|ICD10:G20|UMLS:C4225186 Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene. UMLS:C4225186|DOID:0060896|http://identifiers.org/omim/616840 http://purl.obolibrary.org/obo/MONDO_0014796 young-onset Parkinson disease caused by mutation in VPS13C|autosomal recessive early-onset Parkinson's disease 23|VPS13C young-onset Parkinson disease|Parkinson disease 23, autosomal recessive early-onset; PARK23|autosomal recessive early-onset Parksinson disease type 23|PARK23|autosomal recessive early-onset Parkinson disease 23|Parkinson disease 23, autosomal recessive early-onset MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities biolink:Disease mondo UMLS:C1837314|MESH:C537879|OMIM:608814|GARD:0010067 http://identifiers.org/omim/608814|MESH:C537879|UMLS:C1837314 http://purl.obolibrary.org/obo/MONDO_0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities gard_rare MONDO:0012134 EJM3 biolink:Disease mondo OMIM:608816|UMLS:C1837308 http://identifiers.org/omim/608816|UMLS:C1837308 http://purl.obolibrary.org/obo/MONDO_0012134 myoclonic epilepsy, juvenile, susceptibility to, 3|EJM3|myoclonic epilepsy, juvenile, susceptibility to, 3; EJM3 predisposition MONDO:0014795 exercise intolerance, riboflavin-responsive biolink:Disease mondo UMLS:C4225187|OMIM:616839 UMLS:C4225187|http://identifiers.org/omim/616839 http://purl.obolibrary.org/obo/MONDO_0014795 exercise intolerance, riboflavin-responsive|RREI|exercise intolerance, riboflavin-responsive; RREI MONDO:0012139 macular dystrophy, retinal, 3 biolink:Disease mondo OMIM:608850|UMLS:C3888009 UMLS:C3888009|http://identifiers.org/omim/608850 http://purl.obolibrary.org/obo/MONDO_0012139 macular dystrophy, retinal, 3; MCDR3|macular dystrophy, retinal, type 3|Mcdr3|macular dystrophy, retinal, 3 HGNC:13356 MCOLN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13356 MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome biolink:Disease mondo OMIM:608837|ICD10:Q68.8|Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). http://identifiers.org/omim/608837|ORPHA:319340 http://purl.obolibrary.org/obo/MONDO_0012137 Carney complex variant|CARNEY complex variant ordo_disease MONDO:0014799 cataract 45 biolink:Disease mondo OMIM:616851|DOID:0110262|ICD10:Q12.0|UMLS:C4225182 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene. UMLS:C4225182|DOID:0110262|http://identifiers.org/omim/616851 http://purl.obolibrary.org/obo/MONDO_0014799 cataract 45; CTRCT45|CTRCT45|SIPA1L3 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in SIPA1L3|cataract type 45|cataract 45 MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 biolink:Disease mondo MESH:C563844|DOID:0110637|ICD10:G71.2|OMIM:608840|UMLS:C1837229|Orphanet:98894 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. http://identifiers.org/omim/608840|ORPHA:98894|UMLS:C1837229|DOID:0110637|MESH:C563844 http://purl.obolibrary.org/obo/MONDO_0012138 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6|MDC1D|congenital muscular dystrophy large-related|congenital muscular dystrophy type 1D|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6; MDDGB6|muscular dystrophy, congenital, type 1D|muscular dystrophy, congenital, large-related|MDDGB6|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; MDDGB6 MONDO:0014790 TMEM199-CDG biolink:Disease mondo DOID:0070268|OMIM:616829|UMLS:C4225190|Orphanet:466703 UMLS:C4225190|ORPHA:466703|http://identifiers.org/omim/616829|DOID:0070268 http://purl.obolibrary.org/obo/MONDO_0014790 congenital disorder of glycosylation, type IIp|congenital disorder of glycosylation, type IIp; CDG2P|congenital disorder of glycosylation type IIp|CDG2P|CDG IIp|CDG syndrome type IIp|congenital disorder of glycosylation type 2p|carbohydrate deficient glycoprotein syndrome type IIp|CDG-IIp ordo_disease MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth biolink:Disease mondo GARD:0010066|OMIM:608811|Orphanet:498485|MESH:C537355|UMLS:C1837316 MESH:C537355|http://identifiers.org/omim/608811|UMLS:C1837316|ORPHA:498485 http://purl.obolibrary.org/obo/MONDO_0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth|overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome gard_rare MONDO:0014794 Meier-Gorlin syndrome 6 biolink:Disease mondo OMIM:616835|UMLS:C4225188 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene. UMLS:C4225188|http://identifiers.org/omim/616835 http://purl.obolibrary.org/obo/MONDO_0014794 MGORS6|GMNN Meier-Gorlin syndrome|Meier-GORLIN syndrome 6; MGORS6|Meier-Gorlin syndrome 6|Meier-Gorlin syndrome type 6|Meier-Gorlin syndrome caused by mutation in GMNN MONDO:0012132 colorectal cancer, susceptibility to, 1 biolink:Disease mondo OMIM:608812 Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene. http://identifiers.org/omim/608812 http://purl.obolibrary.org/obo/MONDO_0012132 colorectal cancer caused by mutation in GALNT12|colorectal adenoma and cancer, susceptibility to|colorectal cancer, susceptibility to, on chromosome 9|susceptibility to colorectal cancer 1|colorectal cancer, susceptibility to, 1|colorectal cancer, susceptibility to, type 1|GALNT12 colorectal cancer|CRCS1|colorectal cancer, susceptibility to, 1; CRCS1 predisposition MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome biolink:Disease mondo UMLS:C4225189|OMIM:616834|Orphanet:488168 UMLS:C4225189|ORPHA:488168|http://identifiers.org/omim/616834 http://purl.obolibrary.org/obo/MONDO_0014793 sterol-C4-methyl oxidase deficiency|MCCPD|Sc4Mol deficiency|microcephaly, congenital cataract, and psoriasiform dermatitis|microcephaly, congenital cataract, and psoriasiform dermatitis; MCCPD|smo deficiency ordo_malformation_syndrome MONDO:0014792 Paget disease of bone 6 biolink:Disease mondo UMLS:C4085250|OMIM:616833 UMLS:C4085250|http://identifiers.org/omim/616833 http://purl.obolibrary.org/obo/MONDO_0014792 PDB6|Paget disease of bone 6|PDB6|Paget disease of bone 6; PDB6|Paget disease of bone type 6 MONDO:0012130 myofibrillar myopathy 2 biolink:Disease mondo Orphanet:399058|OMIM:608810|MESH:C563848|UMLS:C1837317|DOID:0080093|ICD10:G71.0 Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene. ORPHA:399058|http://identifiers.org/omim/608810|UMLS:C1837317|MESH:C563848|DOID:0080093 http://purl.obolibrary.org/obo/MONDO_0012130 alpha-B crystallinopathy|myopathy, desmin-related, associated with mutation in the Cryab Gene|MFM2|alpha-B crystallin-related late-onset distal myopathy|myopathy, myofibrillar, alpha-B crystallin-related|myofibrillar myopathy type 2|myopathy, myofibrillar, type 2|myopathy, myofibrillar, with or without cataract and/or cardiomyopathy|myopathy, myofibrillar, 2|late-onset distal crystallinopathy|autosomal dominant distal myopathy caused by mutation in CRYAB|CRYAB autosomal dominant distal myopathy|myopathy, myofibrillar, 2; MFM2 ordo_disease MONDO:0014791 Luscan-Lumish syndrome biolink:Disease mondo OMIM:616831|UMLS:C4085873 UMLS:C4085873|http://identifiers.org/omim/616831 http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome|LLs|LLs|Luscan-Lumish syndrome; LLs MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm biolink:Disease mondo NCIT:C5961|UMLS:C1332957|DOID:3870 A central nervous system embryonal tumor, not otherwise specified that occurs in childhood. UMLS:C1332957|DOID:3870|NCIT:C5961 http://purl.obolibrary.org/obo/MONDO_0002798 childhood CNS PNET|childhood central nervous system PNET|childhood central nervous system embryonal tumor, NOS|Central nervous system embryonal tumor, NOS|pediatric central nervous system primitive neuroectodermal tumor|central nervous system embryonal tumor, not otherwise specified|pediatric CNS primitive neuroectodermal tumor|childhood central primitive neuroectodermal neoplasm|central nervous system primitive neuroectodermal neoplasm of childhood|pediatric central nervous system primitive neuroectodermal neoplasm|childhood CNS primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal neoplasm|pediatric central primitive neuroectodermal tumor|childhood central nervous system embryonal tumor, not otherwise specified|pediatric CNS PNET|pediatric central primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal tumor|pediatric central nervous system primitive neuroectodermal neoplasm|childhood CNS primitive neuroectodermal tumor|pediatric CNS primitive neuroectodermal neoplasm|childhood central primitive neuroectodermal tumor MONDO:0000135 obsolete Kenny-Caffey syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000135 MONDO:0026765 congenital disorder of glycosylation, type IIr biolink:Disease mondo OMIM:301045 http://identifiers.org/omim/301045 http://purl.obolibrary.org/obo/MONDO_0026765 CDG IIr|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R MONDO:0002799 nodular medulloblastoma biolink:Disease mondo DOID:3873 A medulloblastoma characterized by nodularity and neuronal differentiation. DOID:3873 http://purl.obolibrary.org/obo/MONDO_0002799 MONDO:0000134 obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000134 MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome biolink:Disease mondo DOID:0090007|MESH:C537362|ICD10:D84.8|UMLS:CN201349|DC:0000544|SCTID:234633000|Orphanet:2268|OMIMPS:242860|GARD:0002945 The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. ORPHA:2268|SNOMEDCT:234633000|UMLS:CN201349|MESH:C537362|DOID:0090007 http://purl.obolibrary.org/obo/MONDO_0000133 ICF syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome|CIID|immunodeficiency-centromeric instability-facial anomalies ordo_malformation_syndrome MONDO:0026763 holoprosencephaly 13, x-linked biolink:Disease mondo OMIM:301043 http://identifiers.org/omim/301043 http://purl.obolibrary.org/obo/MONDO_0026763 HOLOPROSENCEPHALY 13, X-LINKED; HPE13 MONDO:0000132 obsolete hypocalcemia (disease) biolink:Disease mondo DC:0000541 http://purl.obolibrary.org/obo/MONDO_0000132 HGNC:25302 COQ9 biolink:OntologyClass mondo http://identifiers.org/hgnc/25302 MONDO:0002794 adult medulloblastoma biolink:Disease mondo DOID:3864|UMLS:C0278876|UMLS:C1332188|NCIT:C4011 A medulloblastoma arising from the brain, occurring in adults. UMLS:C1332188|UMLS:C0278876|DOID:3864|NCIT:C4011 http://purl.obolibrary.org/obo/MONDO_0002794 medulloblastoma of adults|medulloblastoma|adult brain medulloblastoma MONDO:0000139 obsolete microcephalic primordial dwarfism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000139 MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm biolink:Disease mondo UMLS:C1332196|DOID:3865|NCIT:C5411 A central nervous system embryonal tumor, not otherwise specified that occurs in adults. UMLS:C1332196|DOID:3865|NCIT:C5411 http://purl.obolibrary.org/obo/MONDO_0002795 adult central nervous system primitive neuroectodermal neoplasm|adult central primitive neuroectodermal neoplasm|adult central nervous system embryonal tumor, not otherwise specified|adult CNS primitive neuroectodermal neoplasm|adult CNS primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm of adults|adult central primitive neuroectodermal tumour|adult central nervous system primitive neuroectodermal tumor|adult central nervous system embryonal tumor, NOS|adult CNS PNET MONDO:0000138 metaphyseal chondrodysplasia (disease) biolink:Disease mondo DC:0000558|HP:0005871|SCTID:28681006 SNOMEDCT:28681006 http://purl.obolibrary.org/obo/MONDO_0000138 metaphyseal chondrodysplasia MONDO:0002796 melanotic medulloblastoma biolink:Disease mondo ONCOTREE:MMBL|DOID:3868|UMLS:C1275668|NCIT:C9497 A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course. NCIT:C9497|DOID:3868|UMLS:C1275668 http://purl.obolibrary.org/obo/MONDO_0002796 medulloblastoma, melanotic (morphologic abnormality)|melanotic medulloblastoma|medulloblastoma, melanotic|melanocytic medulloblastoma|MMBL|medulloblastoma with melanotic differentiation MONDO:0026767 immunodeficiency 74, covid19-related, x-linked biolink:Disease mondo OMIM:301051 http://identifiers.org/omim/301051 http://purl.obolibrary.org/obo/MONDO_0026767 Respiratory Insufficiency Due to Sars-Cov-2 Viral Infection|IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74|Tlr7 Deficiency MONDO:0000137 leukoencephalopathy, megalencephalic biolink:Disease mondo DC:0000556|OMIMPS:604004 http://purl.obolibrary.org/obo/MONDO_0000137 MONDO:0026768 warfarin sensitivity, x-linked biolink:Disease mondo OMIM:301052 http://identifiers.org/omim/301052 http://purl.obolibrary.org/obo/MONDO_0026768 Coumarin Sensitivity, X-Linked|WARFARIN SENSITIVITY, X-LINKED MONDO:0002797 childhood medulloblastoma biolink:Disease mondo DOID:3869|NCIT:C3997|GARD:0009350|UMLS:C0278510 A medulloblastoma occurring in children. NCIT:C3997|UMLS:C0278510|DOID:3869 http://purl.obolibrary.org/obo/MONDO_0002797 medulloblastoma|pediatric medulloblastoma|childhood medulloblastoma|pediatric medulloblastoma|medulloblastoma of childhood|medulloblastoma, childhood gard_rare MONDO:0000136 keratosis follicularis spinulosa decalvans biolink:Disease mondo SCTID:238626006|ICD9:757.39|DC:0000550|ICD10:Q82.8|Orphanet:2340|GARD:0006829 Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma. ORPHA:2340|UMLS:C0343057|SNOMEDCT:238626006 http://purl.obolibrary.org/obo/MONDO_0000136 keratosis pilaris decalvans ordo_disease MONDO:0002790 seminal vesicle tumor biolink:Disease mondo DOID:3855|SCTID:236740006|ICD9:239.5|NCIT:C39908|UMLS:C0341767 A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma. SNOMEDCT:236740006|DOID:3855|UMLS:C0341767|NCIT:C39908 http://purl.obolibrary.org/obo/MONDO_0002790 seminal vesicle tumor|seminal vesicle neoplasm (disease)|tumor of seminal vesicle|seminal vesicle neoplasm|neoplasm of seminal vesicle HGNC:27960 SLC6A19 biolink:OntologyClass mondo http://identifiers.org/hgnc/27960 MONDO:0002791 large cell medulloblastoma biolink:Disease mondo ICDO:9474/3|EFO:0008508|NCIT:C6904|UMLS:C1266180|DOID:3857 A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma. UMLS:C1266180|DOID:3857|NCIT:C6904 http://purl.obolibrary.org/obo/MONDO_0002791 large cell medulloblastoma (morphologic abnormality)|large cell medulloblastoma MONDO:0012119 ASPG3 biolink:Disease mondo OMIM:608781|UMLS:C1837434 http://identifiers.org/omim/608781|UMLS:C1837434 http://purl.obolibrary.org/obo/MONDO_0012119 ASPG3|ASPERGER syndrome, susceptibility to, 3|ASPERGER syndrome, susceptibility to, 3; ASPG3 predisposition MONDO:0002792 cerebellar vermis medulloblastoma biolink:Disease mondo DOID:3860|UMLS:C1332903|NCIT:C5401 A medulloblastoma arising from the vermis of the cerebellum. UMLS:C1332903|DOID:3860|NCIT:C5401 http://purl.obolibrary.org/obo/MONDO_0002792 cerebellar vermis medulloblastoma|medulloblastoma of the cerebellar vermis|vermis medulloblastoma|medulloblastoma of cerebellar vermis HGNC:27962 STING1 biolink:OntologyClass mondo http://identifiers.org/hgnc/27962 MONDO:0002793 obsolete medullomyoblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002793 MONDO:0000131 obsolete hyperpigmentation, familial progressive biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000131 MONDO:0000130 obsolete hypercarotenemia and vitamin a deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000130 MONDO:0026762 Wieacker-Wolff syndrome, female-restricted biolink:Disease mondo OMIM:301041 http://identifiers.org/omim/301041 http://purl.obolibrary.org/obo/MONDO_0026762 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome biolink:Disease mondo UMLS:C1837371|GARD:0012382|OMIM:608800|ICD10:G90.8|Orphanet:168593|MESH:C563856 Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. http://identifiers.org/omim/608800|UMLS:C1837371|MESH:C563856|ORPHA:168593 http://purl.obolibrary.org/obo/MONDO_0012124 sudden infant death - dysgenesis of the testes|sudden infant death with dysgenesis of the testes syndrome; SIDDT|sudden infant death with dysgenesis of the testes syndrome|SIDDT ordo_malformation_syndrome MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome biolink:Disease mondo OMIM:616819|Orphanet:466688|UMLS:C4225193 UMLS:C4225193|ORPHA:466688|http://identifiers.org/omim/616819 http://purl.obolibrary.org/obo/MONDO_0014787 Birk-Flusser syndrome|corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia; CCAFCA|corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia|CCAFCA ordo_malformation_syndrome MONDO:0012125 hypomyelinating leukodystrophy 2 biolink:Disease mondo MESH:C563855|DOID:0060787|ICD10:E75.2|OMIM:608804|UMLS:C1837355|Orphanet:280282 Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene. http://identifiers.org/omim/608804|UMLS:C1837355|ORPHA:280282|MESH:C563855|DOID:0060787 http://purl.obolibrary.org/obo/MONDO_0012125 Pelizaeus-Merzbacher-like disease 1|leukodystrophy, hypomyelinating, 2; HLD2|leukodystrophy, hypomyelinating, type 2|PMLD1|hypomyelinating leukodystrophy type 2|HLD2|leukodystrophy caused by mutation in GJC2|Pelizaeus-Merzbacher-like disease due to GJC2 mutation|leukodystrophy, hypomyelinating, 2|GJC2 leukodystrophy|Pelizaeus-Merzbacher-like disease, 1 ordo_clinical_subtype CHEBI:16914 salicylic acid biolink:ChemicalSubstance mondo A monohydroxybenzoic acid that is benzoic acid with a hydroxy group at the ortho position. It is obtained from the bark of the white willow and wintergreen leaves. http://purl.obolibrary.org/obo/CHEBI_16914 2-hydroxybenzoic acid|Salicylic acid|2-HYDROXYBENZOIC ACID|o-hydroxybenzoic acid|o-Hydroxybenzoic acid|2-carboxyphenol|o-carboxyphenol MONDO:0014786 IgA nephropathy, susceptibility to, 3 biolink:Disease mondo OMIM:616818 Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene. http://identifiers.org/omim/616818 http://purl.obolibrary.org/obo/MONDO_0014786 IgA nephropathy, susceptibility to, 3|IgA glomerulonephritis caused by mutation in SPRY2|susceptibility to IgA nephropathy 3|SPRY2 IgA glomerulonephritis|IgA nephropathy, susceptibility to, type 3|IGAN3|IgA nephropathy, susceptibility to, 3; IGAN3 predisposition MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 biolink:Disease mondo OMIM:616817|UMLS:C4225195 Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene. UMLS:C4225195|http://identifiers.org/omim/616817 http://purl.obolibrary.org/obo/MONDO_0014785 PPP1R15B microcephaly, short stature, and impaired glucose metabolism|MSSGM2|microcephaly, short stature, and impaired glucose metabolism type 2|microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B|microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2|microcephaly, short stature, and impaired glucose metabolism 2 MONDO:0012122 MYMY3 biolink:Disease mondo UMLS:C1837418|MESH:C536993|OMIM:608796 http://identifiers.org/omim/608796|MESH:C536993|UMLS:C1837418 http://purl.obolibrary.org/obo/MONDO_0012122 Moyamoya disease 3; MYMY3|MYMY3|Moyamoya disease 3 MONDO:0012123 congenital disorder of glycosylation type 1E biolink:Disease mondo GARD:0009831|NCIT:C126871|OMIM:608799|MESH:C535743|SCTID:725078006|ICD10:E77.8|Orphanet:79322 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. SNOMEDCT:725078006|http://identifiers.org/omim/608799|ORPHA:79322|MESH:C535743|NCIT:C126871 http://purl.obolibrary.org/obo/MONDO_0012123 DPM1 congenital disorder of glycosylation|CDG1E|DPM1-CDG (CDG-Ie)|CDG Ie|CDG syndrome type Ie|congenital disorder of glycosylation type Ie|CDGIe|congenital disorder of glycosylation caused by mutation in DPM1|congenital disorder of glycosylation, type Ie; CDG1E|CDG 1E|carbohydrate-deficient glycoprotein syndrome type 1E|congenital disorder of glycosylation, type Ie|Dol-P-mannosyltransferase deficiency|congenital disorder of glycosylation type 1e|DPM1-CDG|carbohydrate deficient glycoprotein syndrome type Ie|CDG-Ie ordo_disease MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome biolink:Disease mondo UMLS:C4225196|Orphanet:467176|OMIM:616816 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. UMLS:C4225196|http://identifiers.org/omim/616816|ORPHA:467176 http://purl.obolibrary.org/obo/MONDO_0014784 hypotonia, infantile, with psychomotor retardation|hypotonia, infantile, with psychomotor retardation; IHPMR|IHPMR ordo_disease MONDO:0012128 dextro-looped transposition of the great arteries 1 biolink:Disease mondo GARD:0007795|UMLS:C1837341|OMIM:608808|MESH:C563853|ICD10:Q20.3|DOID:0060771 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene. http://identifiers.org/omim/608808|UMLS:C1837341|DOID:0060771|MESH:C563853 http://purl.obolibrary.org/obo/MONDO_0012128 D-TGA|transposition of the great arteries, dextro-looped type 1|dextro-looped transposition of the great arteries type 1|transposition of the great arteries, dextro-looped 1; DTGA1|MED13L dextro-looped transposition of the great arteries|DTGA1|dextro-looped transposition of the great arteries caused by mutation in MED13L|transposition of the great arteries, dextro-looped 1 MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema biolink:Disease mondo OMIM:608809|MESH:C563852|UMLS:C1837329|GARD:0010065 http://identifiers.org/omim/608809|UMLS:C1837329|MESH:C563852 http://purl.obolibrary.org/obo/MONDO_0012129 LACH|leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema; LACH|leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema gard_rare MONDO:0012126 familial avascular necrosis of femoral head biolink:Disease mondo OMIMPS:608805|UMLS:CN206226|NCIT:C35480|SCTID:715657008|GARD:0010914|MESH:D005271|ICD10:M87.8|Orphanet:86820 Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. NCIT:C35480|http://identifiers.org/omim/608805|ORPHA:86820|UMLS:CN206226|MESH:D005271|SNOMEDCT:715657008 http://purl.obolibrary.org/obo/MONDO_0012126 aseptic Necrosis of head of femur|avascular NECROSIS of femoral head, primary, 1; ANFH1|ANFH|familial osteonecrosis of the femoral head|ischemic Necrosis of femoral head|femoral head, avascular Necrosis of|avascular Necrosis of femoral head, primary, 1|femoral head, aseptic Necrosis of|aseptic Necrosis of femoral head|osteonecrosis of femoral head|avascular NECROSIS of femoral head, primary|ANFH1|avascular NECROSIS of femoral head, primary; ANFH|familial avascular necrosis of the femoral head|primary avascular necrosis of the femoral head gard_rare|ordo_disease|prototype_pattern MONDO:0014789 CCDC115-CDG biolink:Disease mondo OMIM:616828|DOID:0070267|Orphanet:468684 DOID:0070267|ORPHA:468684|http://identifiers.org/omim/616828 http://purl.obolibrary.org/obo/MONDO_0014789 congenital disorder of glycosylation type IIo|CDG syndrome type IIo|congenital disorder of glycosylation type 2o|CDG2O|congenital disorder of glycosylation, type IIo|carbohydrate deficient glycoprotein syndrome type IIo|CDG-IIo|congenital disorder of glycosylation, type IIo; CDG2O|CDG IIo ordo_disease MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W biolink:Disease mondo UMLS:C4225192|OMIM:616827|Orphanet:466801|DOID:0110288 Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. ORPHA:466801|UMLS:C4225192|DOID:0110288|http://identifiers.org/omim/616827 http://purl.obolibrary.org/obo/MONDO_0014788 muscular dystrophy, limb-girdle, type 2W|LIMS2 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2W; LGMD2W|LGMD2W|autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2|muscular dystrophy, limb-girdle, type 2w ordo_disease MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J biolink:Disease mondo ICD10:G71.0|MESH:C563854|DOID:0110283|UMLS:C1837342|OMIM:608807|Orphanet:140922|GARD:0012534 Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. http://identifiers.org/omim/608807|ORPHA:140922|DOID:0110283|UMLS:C1837342|MESH:C563854 http://purl.obolibrary.org/obo/MONDO_0012127 muscular dystrophy, limb-girdle, type 2J; LGMD2J|TTN autosomal recessive limb-girdle muscular dystrophy|LGMD2J|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN|muscular dystrophy, limb-girdle, type 2J|limb-girdle muscular dystrophy type 2J ordo_disease GO:0120111 neuron projection cytoplasm biolink:OntologyClass mondo All of the contents of a plasma membrane bounded neuron projection, excluding the plasma membrane surrounding the projection. http://purl.obolibrary.org/obo/GO_0120111 HGNC:15984 APTX biolink:OntologyClass mondo http://identifiers.org/hgnc/15984 MONDO:0000129 glutaric aciduria (disease) biolink:Disease mondo SCTID:28987007|HP:0003150|DC:0000526|HP:0003530|ICD9:270.8|UMLS:C0268594 UMLS:C0268594|SNOMEDCT:28987007 http://purl.obolibrary.org/obo/MONDO_0000129 glutaric acidemia|glutaric aciduria MONDO:0014783 preimplantation embryonic lethality 1 biolink:Disease mondo OMIM:616814|UMLS:C4225197 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene. UMLS:C4225197|http://identifiers.org/omim/616814 http://purl.obolibrary.org/obo/MONDO_0014783 preimplantation embryonic lethality caused by mutation in TLE6|PREMBL1|preimplantation embryonic lethality 1|preimplantation embryonic lethality 1; PREMBL1|Prembl|preimplantation embryonic lethality type 1|TLE6 preimplantation embryonic lethality MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency biolink:Disease mondo UMLS:C1837429|ICD10:E74.4|MESH:C536258|Orphanet:79246|GARD:0009888|OMIM:608782 Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period. http://identifiers.org/omim/608782|MESH:C536258|ORPHA:79246|UMLS:C1837429 http://purl.obolibrary.org/obo/MONDO_0012120 pyruvate dehydrogenase phosphatase deficiency|PDHPD|pyruvate dehydrogenase phosphatase deficiency; PDHPD|lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|PDH phosphatase deficiency gard_rare|ordo_clinical_subtype MONDO:0012121 OTSC5 biolink:Disease mondo OMIM:608787|MESH:C563858|UMLS:C1837422 http://identifiers.org/omim/608787|UMLS:C1837422|MESH:C563858 http://purl.obolibrary.org/obo/MONDO_0012121 otosclerosis 5|OTSC5|otosclerosis 5; OTSC5 MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X biolink:Disease mondo DOID:0110290|UMLS:C4225199|Orphanet:476084|OMIM:616812 Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. UMLS:C4225199|ORPHA:476084|DOID:0110290|http://identifiers.org/omim/616812 http://purl.obolibrary.org/obo/MONDO_0014782 BVES autosomal recessive limb-girdle muscular dystrophy|LGMD2X|muscular dystrophy, limb-girdle, type 2X|muscular dystrophy, limb-girdle, type 2x|autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|muscular dystrophy, limb-girdle, type 2X; LGMD2X|autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES ordo_disease MONDO:0014781 combined oxidative phosphorylation deficiency 29 biolink:Disease mondo OMIM:616811|UMLS:C4225200 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene. UMLS:C4225200|http://identifiers.org/omim/616811 http://purl.obolibrary.org/obo/MONDO_0014781 TXN2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 29|combined oxidative phosphorylation deficiency 29; COXPD29|combined oxidative phosphorylation deficiency caused by mutation in TXN2|COXPD29|combined oxidative phosphorylation deficiency type 29 MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 biolink:Disease mondo UMLS:C4225201|OMIM:616809 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene. UMLS:C4225201|http://identifiers.org/omim/616809 http://purl.obolibrary.org/obo/MONDO_0014780 hyperphosphatasia with mental retardation syndrome type 6|glycosylphosphatidylinositol biosynthesis defect 12|hyperphosphatasia with mental retardation syndrome 6|hyperphosphatasia with intellectual disability syndrome 6; HPMRS6|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY|hyperphosphatasia with intellectual disability syndrome type 6|HPMRS6|PIGY hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 6 HP:0011461 Fetal onset biolink:PhenotypicFeature mondo UMLS:C4023347 Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). http://purl.obolibrary.org/obo/HP_0011461 Foetal onset MONDO:0000146 obsolete progeroid syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000146 MONDO:0026754 obsolete histidinuria-renal tubular defect syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0026754 MONDO:0000145 obsolete premature aging syndrome biolink:Disease mondo DC:0000581 http://purl.obolibrary.org/obo/MONDO_0000145 HP:0011463 Childhood onset biolink:PhenotypicFeature mondo UMLS:C1837352 Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/HP_0011463 Symptoms begin in childhood MONDO:0000144 pregnancy loss, recurrent, susceptibility biolink:Disease mondo DC:0000580 http://purl.obolibrary.org/obo/MONDO_0000144 predisposition MONDO:0000143 obsolete multiple mitochondrial dysfunctions syndrome biolink:Disease mondo DC:0000566 http://purl.obolibrary.org/obo/MONDO_0000143 GO:0051703 biological process involved in intraspecies interaction between organisms biolink:OntologyClass mondo Any process in which an organism has an effect on an organism of the same species. http://purl.obolibrary.org/obo/GO_0051703 intraspecies interaction between organisms|intraspecies interaction with other organisms MONDO:0000149 obsolete retinopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000149 MONDO:0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related biolink:Disease mondo UMLS:CN262497|OMIMPS:614742|DC:0000590 UMLS:CN262497 http://purl.obolibrary.org/obo/MONDO_0000148 MONDO:0000147 polyposis biolink:Disease mondo DC:0000587|NCIT:C4089|UMLS:C0334108 NCIT:C4089|UMLS:C0334108 http://purl.obolibrary.org/obo/MONDO_0000147 polyposis|multiple polyps GO:0051707 response to other organism biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. http://purl.obolibrary.org/obo/GO_0051707 MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type biolink:Disease mondo UMLS:C1837481|MESH:C563869|OMIM:608728|ICD10:Q77.7|Orphanet:156728|SCTID:719166003|GARD:0010611 Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. UMLS:C1837481|MESH:C563869|ORPHA:156728|http://identifiers.org/omim/608728|SNOMEDCT:719166003 http://purl.obolibrary.org/obo/MONDO_0012108 SEMD, MATN3-related|spondyloepimetaphyseal dysplasia matrilin-3 related|SEMD, MATN3-related|spondyloepimetaphyseal dysplasia, matrilin-3 related|spondyloepimetaphyseal dysplasia matrilin-3 type|SEMD, matrilin-3 type|SEMD MATN3-related ordo_disease GO:0051704 multi-organism process biolink:OntologyClass mondo A biological process which involves another organism of the same or different species. http://purl.obolibrary.org/obo/GO_0051704 physiological interaction with other organism|physiological interaction between organisms|interaction between organisms GO:0051705 obsolete multi-organism behavior biolink:OntologyClass mondo OBSOLETE. Any process in which an organism has a behavioral effect on another organism of the same or different species. http://purl.obolibrary.org/obo/GO_0051705 behavioral signalling|behavioural interaction with other organism|behavioural interaction between organisms|behavioral signaling|behavioral interaction with other organism|behavioral interaction between organisms MONDO:0012109 hypertension, essential, susceptibility to, 4 biolink:Disease mondo OMIM:608742|UMLS:C1837479 UMLS:C1837479|http://identifiers.org/omim/608742 http://purl.obolibrary.org/obo/MONDO_0012109 hypertension, essential, susceptibility to, 4|hypertension, essential, susceptibility to, type 4|Hyt4 predisposition MONDO:0000142 obsolete multiple congenital anomalies-hypotonia-seizures syndrome biolink:Disease mondo DC:0000565 http://purl.obolibrary.org/obo/MONDO_0000142 MONDO:0000141 mosaic variegated aneuploidy syndrome biolink:Disease mondo ICD10:Q99.8|DC:0000564|Orphanet:1052|UMLS:C1850343|SCTID:700056005|ICD9:758.89|NCIT:C128192|OMIMPS:257300|MESH:C536987|GARD:0003007 Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. ORPHA:1052|NCIT:C128192|MESH:C536987|SNOMEDCT:700056005|UMLS:C1850343 http://purl.obolibrary.org/obo/MONDO_0000141 MVA1|Warburton-Anyane-Yeboa syndrome|Mosaic variegated aneuploidy syndrome 1 ordo_malformation_syndrome MONDO:0000140 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000140 MONDO:0012113 EIG3 biolink:Disease mondo OMIM:608762 http://identifiers.org/omim/608762 http://purl.obolibrary.org/obo/MONDO_0012113 EIG3|epilepsy, idiopathic generalized, susceptibility to, 3; EIG3|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9|epilepsy, idiopathic generalized, susceptibility to, 3 predisposition MONDO:0014776 spinocerebellar ataxia type 42 biolink:Disease mondo UMLS:C4225205|Orphanet:458803|ICD10:G11.8|OMIM:616795|EFO:0009059 UMLS:C4225205|ORPHA:458803|http://identifiers.org/omim/616795 http://purl.obolibrary.org/obo/MONDO_0014776 spinocerebellar ataxia type 42|spinocerebellar ataxia 42; SCA42|spinocerebellar ataxia 42|SCA42 ordo_disease MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type biolink:Disease mondo OMIM:608763|UMLS:C1837462|MESH:C536199 http://identifiers.org/omim/608763|MESH:C536199|UMLS:C1837462 http://purl.obolibrary.org/obo/MONDO_0012114 Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract|Ehlers-Danlos syndrome with mental retardation, deafness, and cataract|Ehlers-Danlos syndrome, Beasley-Cohen type n_of_one MONDO:0014775 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect biolink:Disease mondo OMIM:616794|UMLS:C4225206|Orphanet:466784 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene. ORPHA:466784|UMLS:C4225206|http://identifiers.org/omim/616794 http://purl.obolibrary.org/obo/MONDO_0014775 combined oxidative phosphorylation deficiency 28; COXPD28|COXPD28|combined oxidative phosphorylation deficiency 28|SLC25A26 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 28|combined oxidative phosphorylation defect type 28|combined oxidative phosphorylation deficiency caused by mutation in SLC25A26 ordo_disease HGNC:13339 KIF4A biolink:OntologyClass mondo http://identifiers.org/hgnc/13339 CHEBI:63248 oxidising agent biolink:ChemicalSubstance mondo A substance that removes electrons from another reactant in a redox reaction. http://purl.obolibrary.org/obo/CHEBI_63248 oxidiser|oxidising agents|oxidisers|oxidant|oxidizer|oxidizing agent|oxidizers|oxidizing agents|oxidants MONDO:0012111 hypertrophic cardiomyopathy 8 biolink:Disease mondo MESH:C563866|UMLS:C1837471|DOID:0110314|OMIM:608751 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene. http://identifiers.org/omim/608751|DOID:0110314|UMLS:C1837471|MESH:C563866 http://purl.obolibrary.org/obo/MONDO_0012111 cardiomyopathy, familial hypertrophic, 8; CMH8|hypertrophic cardiomyopathy type 8|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1|cardiomyopathy, familial hypertrophic, 8|cardiomyopathy hypertrophic mid-left ventricular chamber type 1|MYL3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYL3|cardiomyopathy, familial hypertrophic, type 8|CMH8 MONDO:0014774 neuroblastoma, susceptibility to, 7 biolink:Disease mondo OMIM:616792 http://identifiers.org/omim/616792 http://purl.obolibrary.org/obo/MONDO_0014774 neuroblastoma, susceptibility to, 7; NBLST7|neuroblastoma, susceptibility to, type 7|NBLST7|neuroblastoma, susceptibility to, 7 predisposition MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome biolink:Disease mondo UMLS:C4225208|OMIM:616789|ICD10:Q87.8|GARD:0012999|Orphanet:369891|HGNC:22962 UMLS:C4225208|ORPHA:369891|http://identifiers.org/omim/616789 http://purl.obolibrary.org/obo/MONDO_0014773 mental retardation and distinctive FACIAL features with or without CARDIAC defects; MRFACD|MED13L syndrome|intellectual disability and distinctive facial features with or without cardiac defects|MED13L haploinsufficiency syndrome|mental retardation and distinctive Facial features with or without Cardiac defects|cardiac anomalies - developmental delay - facial dysmorphism syndrome|intellectual disability and distinctive FACIAL features with or without CARDIAC defects; MRFACD|MRFACD|intellectual disability and distinctive Facial features with or without Cardiac defects gard_rare|ordo_malformation_syndrome MONDO:0012112 hypertrophic cardiomyopathy 10 biolink:Disease mondo MESH:C563865|OMIM:608758|UMLS:C1834460|DOID:0110316 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene. UMLS:C1834460|http://identifiers.org/omim/608758|DOID:0110316|MESH:C563865 http://purl.obolibrary.org/obo/MONDO_0012112 cardiomyopathy, familial hypertrophic, type 10|cardiomyopathy, familial hypertrophic, 10|cardiomyopathy, familial hypertrophic, 10; CMH10|CMH10|MYL2 hypertrophic cardiomyopathy|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2|hypertrophic cardiomyopathy caused by mutation in MYL2|hypertrophic cardiomyopathy type 10 MONDO:0012117 ALG9-CDG biolink:Disease mondo UMLS:C2931006|ICD10:E77.8|SCTID:720978005|Orphanet:79328|OMIM:608776|GARD:0009839|MESH:C535750 (11q23). SNOMEDCT:720978005|http://identifiers.org/omim/608776|ORPHA:79328|MESH:C535750|UMLS:C2931006 http://purl.obolibrary.org/obo/MONDO_0012117 congenital disorder of glycosylation type IL|congenital disorder of glycosylation type 1L|CDG-IL|ALG9-CDG (CDG-IL)|mannosyltransferase 7-9 deficiency|CDG1L|congenital disorder of glycosylation, type IL|CDG syndrome type IL|carbohydrate deficient glycoprotein syndrome type IL|carbohydrate deficient glycoprotein syndrome type 1L|congenital disorder of glycosylation, type IL; CDG1L|CDG 1L|CDG IL ordo_disease MONDO:0014779 Wilms tumor 6 biolink:Disease mondo OMIM:616806 Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. http://identifiers.org/omim/616806 http://purl.obolibrary.org/obo/MONDO_0014779 WT6|WT6|Wilms tumor 6; WT6|Wilms tumor type 6|Wilms tumor 6 MONDO:0012118 COG7-CDG biolink:Disease mondo ICD10:E77.8|Orphanet:79333|GARD:0009842|OMIM:608779|MESH:C535754|SCTID:717773005 COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. http://identifiers.org/omim/608779|SNOMEDCT:717773005|ORPHA:79333|MESH:C535754 http://purl.obolibrary.org/obo/MONDO_0012118 congenital disorder of glycosylation type IIe|CDG syndrome type IIe|congenital disorder of glycosylation type 2e|COG7-CDG (CDG-IIe)|CDG IIe|CDG2E|carbohydrate deficient glycoprotein syndrome type IIe|CDG-IIe|congenital disorder of glycosylation, type IIe; CDG2E|congenital disorder of glycosylation, type IIe|CDG 2E ordo_disease MONDO:0014778 Lamb-Shaffer syndrome biolink:Disease mondo OMIM:616803|UMLS:C4225202|Orphanet:530983 http://identifiers.org/omim/616803|UMLS:C4225202|ORPHA:530983 http://purl.obolibrary.org/obo/MONDO_0014778 Lamb-Shaffer syndrome; LAMSHF|LAMSHF|Lamb-Shaffer syndrome ordo_disease MONDO:0012115 scoliosis, isolated, susceptibility to, 3 biolink:Disease mondo OMIM:608765 http://identifiers.org/omim/608765 http://purl.obolibrary.org/obo/MONDO_0012115 scoliosis, isolated, susceptibility to, 3; IS3|scoliosis, isolated, susceptibility to, 3|IS3 predisposition HGNC:15999 SELENON biolink:OntologyClass mondo http://identifiers.org/hgnc/15999 MONDO:0012116 spinocerebellar ataxia type 8 biolink:Disease mondo UMLS:C4275024|DOID:0050959|Orphanet:98760|SCTID:715753001|ICD10:G11.2|UMLS:C1837454|GARD:0004956|OMIM:608768 Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. UMLS:C4275024|MESH:C537307|http://identifiers.org/omim/608768|ORPHA:98760|SNOMEDCT:715753001|DOID:0050959|UMLS:C1837454 http://purl.obolibrary.org/obo/MONDO_0012116 spinocerebellar ataxia 8|spinocerebellar ataxia type 8|SCA8|spinocerebellar ataxia 8; SCA8 ordo_disease MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 biolink:Disease mondo UMLS:C4225203|OMIM:616801 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene. http://identifiers.org/omim/616801|UMLS:C4225203 http://purl.obolibrary.org/obo/MONDO_0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies type 2|hypotonia, infantile, with psychomotor retardation and characteristic facies 2|UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80|hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2|IHPRF2 HGNC:15993 CHST8 biolink:OntologyClass mondo http://identifiers.org/hgnc/15993 GO:0036161 calcitonin secretion biolink:OntologyClass mondo The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell. http://purl.obolibrary.org/obo/GO_0036161 MONDO:0014772 orofacial cleft 15 biolink:Disease mondo OMIM:616788 Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene. http://identifiers.org/omim/616788 http://purl.obolibrary.org/obo/MONDO_0014772 cleft lip/palate caused by mutation in DLX4|DLX4 cleft lip/palate|orofacial cleft 15|orofacial cleft type 15|OFC15 MONDO:0014771 Joubert syndrome 26 biolink:Disease mondo UMLS:C4084843|OMIM:616784|DOID:0110995 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene. DOID:0110995|UMLS:C4084843|http://identifiers.org/omim/616784 http://purl.obolibrary.org/obo/MONDO_0014771 Joubert syndrome 26; JBTS26|KIAA0556 Joubert syndrome|JBTS26|Joubert syndrome caused by mutation in KIAA0556|Joubert syndrome 26|Joubert syndrome type 26 MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency biolink:Disease mondo ICD10:E34.3|Orphanet:73272|GARD:0010627|UMLS:C4518327|OMIM:608747|SCTID:724385009|UMLS:C1837475|MESH:C563867 Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. ORPHA:73272|http://identifiers.org/omim/608747|UMLS:C1837475|MESH:C563867|SNOMEDCT:724385009|UMLS:C4518327 http://purl.obolibrary.org/obo/MONDO_0012110 IGF-1 deficiency|insulin-like growth Factor 1 deficiency|growth retardation with sensorineural deafness and intellectual disability|growth retardation with sensorineural deafness and mental retardation|primary insulin-like growth factor deficiency|growth delay-deafness- intellectual disability syndrome|IGF1 deficiency|insulin-like growth factor I deficiency ordo_disease MONDO:0014770 Joubert syndrome 25 biolink:Disease mondo DOID:0110994|UMLS:C4084842|OMIM:616781 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene. UMLS:C4084842|DOID:0110994|http://identifiers.org/omim/616781 http://purl.obolibrary.org/obo/MONDO_0014770 Joubert syndrome caused by mutation in CEP104|CEP104 Joubert syndrome|JBTS25|Joubert syndrome 25|Joubert syndrome type 25|Joubert syndrome 25; JBTS25 NCBITaxon:12475 Hepatitis delta virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12475 HDV|Hepatitis D virus|hepatitis delta virus HDV ENVO:01001689 mass of gas biolink:OntologyClass mondo An object which is composed primarily of a gas. http://purl.obolibrary.org/obo/ENVO_01001689 gaseous mass MONDO:0000199 obsolete familial adenomatous polyposis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000199 MONDO:0000198 obsolete linear skin defects with multiple congenital anomalies biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000198 ENVO:01001686 mass of environmental material biolink:OntologyClass mondo An object which is composed primarily of an environmental material http://purl.obolibrary.org/obo/ENVO_01001686 ENVO:01001688 mass of fluid biolink:OntologyClass mondo An object which is composed primarily of a fluid. http://purl.obolibrary.org/obo/ENVO_01001688 fluid mass ENVO:01001687 mass of solid material biolink:OntologyClass mondo An object which is composed primarily of a solid environmental material http://purl.obolibrary.org/obo/ENVO_01001687 MONDO:0000193 cortisone reductase deficiency biolink:Disease mondo ICD9:277.6|OMIMPS:604931|DOID:0090139|ICD10:E25.8|GARD:0009882|DC:0000697|SCTID:124138004|UMLS:CN200166|MESH:C536447|Orphanet:168588 A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility. SNOMEDCT:124138004|ORPHA:168588|UMLS:CN200166|MESH:C536447|DOID:0090139 http://purl.obolibrary.org/obo/MONDO_0000193 deficiency of (R)-20-hydroxysteroid dehydrogenase|deficiency of cortisone reductase|11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of|CORTRD|hyperandrogenism due to cortisone reductase deficiency|HSD 11B1 deficiency|11-beta-hydroxysteroid dehydrogenase deficiency type 1 ordo_malformation_syndrome|gard_rare MONDO:0000192 polyglucosan body myopathy biolink:Disease mondo UMLS:CN228160|DC:0000696|OMIMPS:615895 UMLS:CN228160 http://purl.obolibrary.org/obo/MONDO_0000192 MONDO:0000191 obsolete renal hypodysplasia/aplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000191 MONDO:0000190 ventricular fibrillation (disease) biolink:Disease mondo COHD:437894|SCTID:71908006|UMLS:C0042510|ICD9:427.41|DC:0000692|MESH:D014693|NCIT:C50799|EFO:0004287|HP:0001663 A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) SNOMEDCT:71908006|MESH:D014693|UMLS:C0042510|NCIT:C50799 http://purl.obolibrary.org/obo/MONDO_0000190 ventricular fibrillation|VFib|VF|fibrillation, ventricular GO:0051716 cellular response to stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. http://purl.obolibrary.org/obo/GO_0051716 MONDO:0000197 obsolete singleton-Merten syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000197 MONDO:0000196 obsolete ataxia-oculomotor apraxia biolink:Disease mondo DC:0000702 http://purl.obolibrary.org/obo/MONDO_0000196 MONDO:0000195 obsolete atrial standstill biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000195 MONDO:0000194 obsolete Otofaciocervical syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000194 HGNC:15968 GDAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15968 MONDO:0012188 neuronal ceroid lipofuscinosis 9 biolink:Disease mondo DOID:0110733|OMIM:609055|Orphanet:228357|GARD:0006618|ICD10:E75.4|MESH:C537953 Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. DOID:0110733|ORPHA:228357|http://identifiers.org/omim/609055|MESH:C537953 http://purl.obolibrary.org/obo/MONDO_0012188 CLN9|ceroid lipofuscinosis, neuronal, 9; CLN9|neuronal ceroid lipofuscinosis type 9|CLN 9|ceroid lipofuscinosis, neuronal, 9|CLN9 disease gard_rare|ordo_etiological_subtype MONDO:0012189 obsolete Amish infantile epilepsy syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012189 HGNC:15964 DAZ2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15964 HGNC:15965 DAZ3 biolink:OntologyClass mondo http://identifiers.org/hgnc/15965 MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa biolink:Disease mondo OMIM:609047|UMLS:C1836898|MESH:C563806 MESH:C563806|UMLS:C1836898|http://identifiers.org/omim/609047 http://purl.obolibrary.org/obo/MONDO_0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa ENVO:01001682 air mass biolink:OntologyClass mondo An object which is composed of a continuous mass of air. http://purl.obolibrary.org/obo/ENVO_01001682 MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 biolink:Disease mondo OMIM:609048 http://identifiers.org/omim/609048 http://purl.obolibrary.org/obo/MONDO_0012183 melanoma, cutaneous malignant, susceptibility to, 3; CMM3|melanoma, cutaneous malignant, susceptibility to, type 3|melanoma, cutaneous malignant, susceptibility to, 3|susceptibility to cutaneous malignant melanoma 3|CMM3 predisposition ENVO:01001681 weather front biolink:OntologyClass mondo A gaseous front which separates two masses of air with different densities and is a principal cause of meteorological phenomena. http://purl.obolibrary.org/obo/ENVO_01001681 meteorological front ENVO:01001684 interface layer biolink:OntologyClass mondo A layer which separates two portions of environmental material which possess 1) differing compositions, 2) a discontinuity of some property, or 3) some derivative of some property in a direction normal to the interface. http://purl.obolibrary.org/obo/ENVO_01001684 MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 biolink:Disease mondo DOID:0110077|ICD10:I42.8|MESH:C563808|UMLS:C1836906|OMIM:609040 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene. MESH:C563808|UMLS:C1836906|http://identifiers.org/omim/609040|DOID:0110077 http://purl.obolibrary.org/obo/MONDO_0012180 ARVD9|PKP2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular cardiomyopathy 9|arrhythmogenic right ventricular dysplasia, familial, 9|ARVC9|familial arrhythmogenic right ventricular dysplasia 9|arrhythmogenic right ventricular dysplasia type 9|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2|arrhythmogenic right ventricular dysplasia, familial, 9; ARVD9|arrhythmogenic right ventricular dysplasia, familial, type 9 MONDO:0012181 hereditary spastic paraplegia 27 biolink:Disease mondo OMIM:609041|DOID:0110778|Orphanet:101007|MESH:C563807|ICD10:G11.4|UMLS:C1836899 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1. MESH:C563807|UMLS:C1836899|http://identifiers.org/omim/609041|DOID:0110778|ORPHA:101007 http://purl.obolibrary.org/obo/MONDO_0012181 spastic paraplegia 27, autosomal recessive; SPG27|autosomal recessive spastic paraplegia type 27|spastic paraplegia 27, autosomal recessive|hereditary spastic paraplegia type 27|autosomal recessive spastic paraplegia 27|SPG27 ordo_disease ENVO:01001683 gaseous surface layer biolink:OntologyClass mondo A fluid surface layer which is composed primarily of some gaseous material. http://purl.obolibrary.org/obo/ENVO_01001683 MONDO:0012186 Fanconi anemia complementation group I biolink:Disease mondo MESH:C563802|UMLS:C1836861|OMIM:609053|NCIT:C129026|DOID:0111091 Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. MESH:C563802|UMLS:C1836861|http://identifiers.org/omim/609053|NCIT:C129026|DOID:0111091 http://purl.obolibrary.org/obo/MONDO_0012186 Fanconi anemia, complementation group I; FANCI|Fanconi anemia complementation group type I|Fanconi Anemia, complementation group type 1|Fanconi anemia, complementation group I|FANCI|Fanconi Anemia, complementation Group 1 MONDO:0012187 Fanconi anemia complementation group j biolink:Disease mondo OMIM:609054|MESH:C563801|UMLS:C1836860|DOID:0111097|NCIT:C129027 Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. MESH:C563801|UMLS:C1836860|http://identifiers.org/omim/609054|NCIT:C129027|DOID:0111097 http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi Anemia, complementation group type J|Fanconi anemia, complementation group J; FANCJ|FANCJ|Fanconi anemia, complementation group J|Fanconi anemia complementation group type J MONDO:0012184 Pierson syndrome biolink:Disease mondo GARD:0003945|ICD10:N04.8|GARD:0009420|SCTID:723449004|OMIM:609049|DOID:0060852|MESH:C537185|NCIT:C128145|Orphanet:2670|UMLS:C1836876 Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. DOID:0060852|UMLS:C1836876|http://identifiers.org/omim/609049|MESH:C537185|ORPHA:2670|NCIT:C128145|SNOMEDCT:723449004 http://purl.obolibrary.org/obo/MONDO_0012184 microcoria-congenital nephrosis syndrome|Pierson syndrome|microcoria-congenital nephrotic syndrome|microcoria - congenital nephrotic syndrome|microcoria - congenital nephrosis gard_rare|ordo_malformation_syndrome ENVO:01001680 gaseous front biolink:OntologyClass mondo A fluid front which is composed primarily of gaseous material and separates at least two gaseous masses. http://purl.obolibrary.org/obo/ENVO_01001680 MONDO:0012185 spondylometaphyseal dysplasia, A4 type biolink:Disease mondo UMLS:C1836862|Orphanet:168555|MESH:C563803|OMIM:609052|GARD:0000458|ICD10:Q77.8 MESH:C563803|UMLS:C1836862|ORPHA:168555|http://identifiers.org/omim/609052 http://purl.obolibrary.org/obo/MONDO_0012185 spondylometaphyseal dysplasia type A4|spondylometaphyseal dysplasia A4 type|spondylometaphyseal dysplasia, type A4 ordo_disease|gard_rare ENVO:01001679 fluid front biolink:OntologyClass mondo A fluid interface which separates two fluid masses with differing properties. http://purl.obolibrary.org/obo/ENVO_01001679 ENVO:01001678 fluid layer biolink:OntologyClass mondo A layer which is composed primarily of some fluid. http://purl.obolibrary.org/obo/ENVO_01001678 UBERON:0035371 retroperitoneal lymph node biolink:AnatomicalEntity mondo A lymph node located in the retroperitoneal space. http://purl.obolibrary.org/obo/UBERON_0035371 retroperitoneal node ENVO:01001677 fluid interface layer biolink:OntologyClass mondo A surface layer which separates two portions of fluid with respect to either 1) a discontinuity of some fluid property or 2) some derivative of one of these properties in a direction normal to the interface. http://purl.obolibrary.org/obo/ENVO_01001677 GO:0051726 regulation of cell cycle biolink:OntologyClass mondo Any process that modulates the rate or extent of progression through the cell cycle. http://purl.obolibrary.org/obo/GO_0051726 cell cycle regulation|regulation of progression through cell cycle|control of cell cycle progression|modulation of cell cycle progression|regulation of cell cycle progression|cell cycle regulator|cell cycle modulation|tumor suppressor HGNC:15979 TP63 biolink:OntologyClass mondo http://identifiers.org/hgnc/15979 MONDO:0012179 narcolepsy 3 biolink:Disease mondo OMIM:609039|UMLS:C1836907 UMLS:C1836907|http://identifiers.org/omim/609039 http://purl.obolibrary.org/obo/MONDO_0012179 narcolepsy 3; NRCLP3|NRCLP3|narcolepsy 3 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome biolink:Disease mondo MESH:C536343|SCTID:724065003|Orphanet:88628|UMLS:C4510304|ICD10:G11.1|UMLS:C1836916|OMIM:609033|GARD:0009898 Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. UMLS:C4510304|UMLS:C1836916|http://identifiers.org/omim/609033|ORPHA:88628|SNOMEDCT:724065003|MESH:C536343 http://purl.obolibrary.org/obo/MONDO_0012177 autosomal recessive posterior column ataxia and retinitis pigmentosa|POSTERIOR column ataxia with retinitis pigmentosa; AXPC1|POSTERIOR column ataxia with retinitis pigmentosa|AXPC1|Pcarp|PCARP ordo_disease MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature biolink:Disease mondo OMIM:609037|MESH:C563810|UMLS:C1836915 MESH:C563810|UMLS:C1836915|http://identifiers.org/omim/609037 http://purl.obolibrary.org/obo/MONDO_0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature|mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature HGNC:15974 TRIM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15974 HGNC:15977 HES7 biolink:OntologyClass mondo http://identifiers.org/hgnc/15977 MONDO:0012171 marfanoid habitus with situs inversus biolink:Disease mondo OMIM:609008|MESH:C563814|UMLS:C1836994 MESH:C563814|UMLS:C1836994|http://identifiers.org/omim/609008 http://purl.obolibrary.org/obo/MONDO_0012171 marfanoid habitus with situs inversus HGNC:15971 TSG101 biolink:OntologyClass mondo http://identifiers.org/hgnc/15971 MONDO:0012172 mitochondrial trifunctional protein deficiency biolink:Disease mondo OMIM:609015|GARD:0003684|MESH:D024741|ICD10:G71.3|SCTID:237999008|Orphanet:746|NCIT:C98991|ICD9:277.85 Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. NCIT:C98991|http://identifiers.org/omim/609015|ORPHA:746|UMLS:C0342786|SNOMEDCT:237999008|MESH:D024741 http://purl.obolibrary.org/obo/MONDO_0012172 mitochondrial trifunctional protein deficiency|MTPD|trifunctional Protein deficiency|TFP deficiency|TFPD|trifunctional Protein deficiency with myopathy and neuropathy|mitochondrial trifunctional PROTEIN deficiency; MTPD gard_rare|ordo_disease ENVO:01001673 fluid surface layer biolink:OntologyClass mondo A surface layer which is composed primarily of some liquid or gas. http://purl.obolibrary.org/obo/ENVO_01001673 MONDO:0012170 autosomal recessive nonsyndromic deafness 36 biolink:Disease mondo MESH:C563815|ICD10:H90.3|DOID:0110494|OMIM:609006 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene. MESH:C563815|http://identifiers.org/omim/609006|DOID:0110494 http://purl.obolibrary.org/obo/MONDO_0012170 deafness, autosomal recessive 36, with or without vestibular involvement; DFNB36|deafness, autosomal dominant, without vestibular involvement|autosomal recessive nonsyndromic deafness caused by mutation in ESPN|deafness, autosomal recessive 36, with or without vestibular involvement|ESPN autosomal recessive nonsyndromic deafness|DFNB36|autosomal recessive nonsyndromic deafness type 36|autosomal recessive deafness 36 MONDO:0012175 cataract 28 biolink:Disease mondo UMLS:C1836942|DOID:0110244|MESH:C563812|OMIM:609026 A cataract that has material basis in variation in the region 6p12-q12. MESH:C563812|UMLS:C1836942|http://identifiers.org/omim/609026|DOID:0110244 http://purl.obolibrary.org/obo/MONDO_0012175 cataract 28|age-related cortical cataract 1|cataract, age-related cortical, 1|cataract 28; CTRCT28|ARCC1|cataract type 28|CTRCT28 MONDO:0012176 Emanuel syndrome biolink:Disease mondo OMIM:609029|GARD:0009835|Orphanet:96170|MESH:C535733|UMLS:C1836929|SCTID:702417004|ICD9:758.5|ICD10:Q92.6 Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities. MESH:C535733|UMLS:C1836929|http://identifiers.org/omim/609029|SNOMEDCT:702417004|ORPHA:96170 http://purl.obolibrary.org/obo/MONDO_0012176 Emanuel syndrome|supernumerary der(22) syndrome|Der(22)t(11;22) syndrome|supernumerary Der(22)T(11|supernumerary der(22),t(11;22) syndrome ordo_malformation_syndrome|gard_rare MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency biolink:Disease mondo OMIM:609016|NCIT:C129929|GARD:0006867|ICD10:E71.3|UMLS:C3711645|SCTID:726021008|Orphanet:5|UMLS:CN239369|UMLS:CN074230 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. UMLS:C0342786|http://identifiers.org/omim/609016|UMLS:CN074230|UMLS:CN239369|NCIT:C129929|ORPHA:5|SNOMEDCT:726021008|UMLS:C3711645 http://purl.obolibrary.org/obo/MONDO_0012173 long-chain 3-hydroxy acyl CoA dehydrogenase deficiency|LCHAD deficiency|LCHADD|trifunctional protein deficiency type 1|3-hydroxyacyl-CoA dehydrogenase long chain deficiency|long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency|long-chain 3-OH acyl-CoA dehydrogenase deficiency|long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ordo_disease MONDO:0012174 peripheral cone dystrophy biolink:Disease mondo MESH:C563813|UMLS:C1836946|OMIM:609021 MESH:C563813|UMLS:C1836946|http://identifiers.org/omim/609021 http://purl.obolibrary.org/obo/MONDO_0012174 peripheral cone dystrophy MONDO:0000179 Neu-Laxova syndrome biolink:Disease mondo DC:0000672|MESH:C536405|NCIT:C14089|GARD:0000102|SCTID:77817004|UMLS:C0265218|ICD10:Q87.8|ICD9:759.89|OMIMPS:256520|Orphanet:2671 Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. UMLS:C0265218|SNOMEDCT:77817004|MESH:C536405|NCIT:C14089|ORPHA:2671 http://purl.obolibrary.org/obo/MONDO_0000179 Neu Laxova syndrome|NLS|nuclear localization signal ordo_malformation_syndrome|gard_rare MONDO:0000178 obsolete breasts and/or nipples, aplasia or hypoplasia of biolink:Disease mondo DC:0000671 http://purl.obolibrary.org/obo/MONDO_0000178 MONDO:0000177 obsolete laryngeal abductor paralysis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000177 NCBITaxon:12455 Borna disease virus organism taxon mondo GC_ID:1|PMID:25449305 http://purl.obolibrary.org/obo/NCBITaxon_12455 Borna disease virus BDV|BDV MONDO:0000176 obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000176 UBERON:0035383 lateral wall of nasopharynx biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035383 lateral nasopharynx MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A biolink:Disease mondo ICD10:Q04.3|NCIT:C99109|DOID:0050560|SCTID:111504002|DC:0000659|OMIMPS:236670|UMLS:CN239483|GARD:0002599|MESH:D058494|Orphanet:899 ORPHA:899|MESH:D058494|UMLS:CN239483|SNOMEDCT:111504002|DOID:0050560|NCIT:C99109 http://purl.obolibrary.org/obo/MONDO_0000171 hard syndrome|cerebroocular dysgenesis|Warburg syndrome|Walker-Warburg muscular dystrophy|cerebroocular dysplasia muscular dystrophy syndrome|hydrocephalus-agyria-retinal dysplasia syndrome|Pagon syndrome|WWS|Chemke syndrome|hydrocephalus, agyria and retinal dysplasia|cerebroocular dysplasia-muscular dystrophy syndrome|hard +/- E syndrome|Walker-Warburg syndrome ordo_disease MONDO:0000170 microphthalmia, isolated, with coloboma biolink:Disease mondo DC:0000658|OMIMPS:300345 http://purl.obolibrary.org/obo/MONDO_0000170 MONDO:0000175 obsolete ataxia-telangiectasia-like disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000175 MONDO:0000174 obsolete split-hand/foot malformation with long bone deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000174 MONDO:0000173 muscular dystrophy-dystroglycanopathy, type C biolink:Disease mondo UMLS:CN262500|OMIMPS:609308|DC:0000661 UMLS:CN262500 http://purl.obolibrary.org/obo/MONDO_0000173 MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B biolink:Disease mondo OMIMPS:613155|UMLS:CN228400|DC:0000660 UMLS:CN228400 http://purl.obolibrary.org/obo/MONDO_0000172 MONDO:0012168 dyslexia, susceptibility to, 8 biolink:Disease mondo OMIM:608995 http://identifiers.org/omim/608995 http://purl.obolibrary.org/obo/MONDO_0012168 dyslexia, susceptibility to, 8|DYX8|dyslexia, susceptibility to, 8; DYX8 predisposition HGNC:15946 RP1L1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15946 MONDO:0012169 premature ovarian failure 3 biolink:Disease mondo UMLS:C1837008|MESH:C563816|OMIM:608996 http://identifiers.org/omim/608996|UMLS:C1837008|MESH:C563816 http://purl.obolibrary.org/obo/MONDO_0012169 premature ovarian failure type 3|premature ovarian failure 3; Pof3|Pof3|premature ovarian failure 3 MONDO:0012166 autosomal dominant sensory ataxia 1 biolink:Disease mondo DOID:0111170|OMIM:608984|UMLS:C1837015 Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene. UMLS:C1837015|DOID:0111170|http://identifiers.org/omim/608984 http://purl.obolibrary.org/obo/MONDO_0012166 Adsa|SNAX1|ADSA|hereditary ataxia caused by mutation in RNF170|ataxia, sensory, 1, autosomal dominant; SNAX1|RNF170 hereditary ataxia|ataxia, sensory, 1, autosomal dominant MONDO:0012167 ATFB2 biolink:Disease mondo OMIM:608988|MESH:C563903|UMLS:C1837812 http://identifiers.org/omim/608988|UMLS:C1837812|MESH:C563903 http://purl.obolibrary.org/obo/MONDO_0012167 ATFB2|atrial fibrillation, familial, 2; ATFB2|atrial fibrillation, familial, 2 MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome biolink:Disease mondo OMIM:608940|Orphanet:85167|MESH:C563825|GARD:0010647|ICD10:Q77.8|UMLS:C1837073 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. MESH:C563825|ORPHA:85167|http://identifiers.org/omim/608940|UMLS:C1837073 http://purl.obolibrary.org/obo/MONDO_0012160 spondylometaphyseal dysplasia with cone-rod dystrophy; SMDCRD|SMDCRD|spondylometaphyseal dysplasia with cone-rod dystrophy|SmD-CRD ordo_disease MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation biolink:Disease mondo UMLS:C1837065|MESH:C563824|SCTID:766983005|ICD10:D84.8|OMIM:608957|Orphanet:169085 Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. ORPHA:169085|SNOMEDCT:766983005|MESH:C563824|http://identifiers.org/omim/608957|UMLS:C1837065 http://purl.obolibrary.org/obo/MONDO_0012161 CD8 deficiency, familial|familial CD8 deficiency ordo_disease|predisposition MONDO:0012164 Meacham syndrome biolink:Disease mondo SCTID:722461004|ICD10:Q87.8|OMIM:608978|Orphanet:3097|GARD:0003432|UMLS:C1837026 Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. UMLS:C1837026|ORPHA:3097|SNOMEDCT:722461004|http://identifiers.org/omim/608978 http://purl.obolibrary.org/obo/MONDO_0012164 Meacham-Winn-Culler syndrome|Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype|Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|Meacham Winn Culler syndrome|Meacham syndrome ordo_malformation_syndrome MONDO:0012165 BNAR syndrome biolink:Disease mondo SCTID:717940006|Orphanet:217266|MESH:C567672|OMIM:608980|UMLS:C4303547|ICD10:Q87.8|GARD:0010595|UMLS:C2750433 BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. UMLS:C4303547|SNOMEDCT:717940006|UMLS:C2750433|ORPHA:217266|MESH:C567672|http://identifiers.org/omim/608980 http://purl.obolibrary.org/obo/MONDO_0012165 bifid NOSE with or without anorectal and renal anomalies|BNAR|bifid nose with or without anorectal and renal anomalies|bifid NOSE with or without anorectal and renal anomalies; BNAR ordo_malformation_syndrome MONDO:0012162 patterned macular dystrophy 2 biolink:Disease mondo OMIM:608970|UMLS:C1837029|DOID:0060864 Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene. UMLS:C1837029|DOID:0060864|http://identifiers.org/omim/608970 http://purl.obolibrary.org/obo/MONDO_0012162 butterfly-shaped pigmentary maculary dystrophy 2|macular dystrophy, patterned, 2; MDPT2|macular dystrophy, patterned, 2|MDPT2|macular dystrophy, butterfly-Shaped pigmentary, 2|patterned macular dystrophy caused by mutation in CTNNA1|CTNNA1 patterned macular dystrophy|patterned macular dystrophy type 2|macular dystrophy, patterned, type 2 MONDO:0012163 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive biolink:Disease mondo UMLS:C1837028|ICD10:D81.2|MESH:C563822|DOID:0090014|OMIM:608971 A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. DOID:0090014|UMLS:C1837028|MESH:C563822|http://identifiers.org/omim/608971 http://purl.obolibrary.org/obo/MONDO_0012163 autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID|SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID MONDO:0000189 obsolete Schindler disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000189 MONDO:0000188 GLUT1 deficiency syndrome biolink:Disease mondo DC:0000690|OMIMPS:606777 http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1DS MONDO:0000187 obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000187 ENVO:01001699 Arctic front biolink:OntologyClass mondo A polar front between the deep, cold Arctic air and the shallower, warmer polar air of northern latitudes on Earth. http://purl.obolibrary.org/obo/ENVO_01001699 ENVO:01001698 polar front biolink:OntologyClass mondo A weather front which separates air masses of tropical and polar origin. http://purl.obolibrary.org/obo/ENVO_01001698 MONDO:0000182 congenital myasthenic syndrome with tubular aggregates biolink:Disease mondo OMIMPS:610542|DC:0000677|UMLS:CN228621 A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers. UMLS:CN228621 http://purl.obolibrary.org/obo/MONDO_0000182 myasthenic syndrome, congenital, with tubular aggregates|CMS-TA MONDO:0000181 microcephaly and chorioretinopathy biolink:Disease mondo DC:0000676|OMIMPS:251279|OMIMPS:251270 http://purl.obolibrary.org/obo/MONDO_0000181 MONDO:0000180 obsolete inflammatory skin and bowel disease, neonatal biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000180 UBERON:0035398 branch of external carotid artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035398 subdivision of external carotid artery|external carotid arterial subdivision MONDO:0000186 obsolete spondyloepimetaphyseal dysplasia with joint laxity biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000186 MONDO:0000185 obsolete polyposis syndrome, hereditary mixed biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000185 MONDO:0000184 obsolete congenital vitamin K-dependent coagulation factors combined deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000184 MONDO:0000183 obsolete hypertrophic osteoarthropathy, primary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000183 MONDO:0012157 congenital myasthenic syndrome 4C biolink:Disease mondo OMIM:608931|DOID:0110679|GARD:0010108 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. http://identifiers.org/omim/608931|DOID:0110679 http://purl.obolibrary.org/obo/MONDO_0012157 myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency|CMS Id|Cms Id, formerly|myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type Id|Cms Id|CMS4C|CMS1D|myasthenia, familial infantile, 1, formerly|congenital myasthenic syndrome associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 4C|familial infantile myasthenia 1|myasthenia, familial infantile, 1|FIM1|myasthenic syndrome, congenital, type Id|congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C MONDO:0012158 KTCN2 biolink:Disease mondo OMIM:608932|MESH:C563827|UMLS:C1837090 http://identifiers.org/omim/608932|UMLS:C1837090|MESH:C563827 http://purl.obolibrary.org/obo/MONDO_0012158 KTCN2|keratoconus 2; KTCN2|keratoconus 2 MONDO:0012155 choanal atresia biolink:Disease mondo Orphanet:137914|COHD:256810|MedDRA:10008587|SCTID:204508009|OMIM:608911|ICD9:748.0|ICD10:Q30.0|DOID:9574|MESH:D002754 Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction. SNOMEDCT:204508009|UMLS:C0008297|http://identifiers.org/omim/608911|DOID:9574|MEDDRA:10008587|MESH:D002754|ORPHA:137914 http://purl.obolibrary.org/obo/MONDO_0012155 atresia of nares|choanal atresia, POSTERIOR; PCA|posterior choanal atresia|choanal atresia, POSTERIOR|imperforate nares|PCA ordo_morphological_anomaly MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel biolink:Disease mondo UMLS:C4225405|DOID:0110662|OMIM:608930|UMLS:C1837122 A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q. http://identifiers.org/omim/608930|UMLS:C4225405|UMLS:C1837122|DOID:0110662 http://purl.obolibrary.org/obo/MONDO_0012156 CMS1B|congenital myasthenic syndrome 1B|myasthenic syndrome, congenital, 1B, fast-channel|CMS1B|congenital myasthenic syndrome 1B, fast-channel|congenital myasthenic syndrome type 1B|myasthenic syndrome, congenital, 1B, FAST-channel; CMS1B MONDO:0012159 LNCR1 biolink:Disease mondo OMIM:608935|UMLS:C1837089 http://identifiers.org/omim/608935|UMLS:C1837089 http://purl.obolibrary.org/obo/MONDO_0012159 lung cancer susceptibility 1|LNCR1|lung cancer susceptibility 1; LNCR1 HGNC:15954 TOE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15954 MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 biolink:Disease mondo OMIM:608904 http://identifiers.org/omim/608904 http://purl.obolibrary.org/obo/MONDO_0012150 Adhd2|attention deficit-hyperactivity disorder, susceptibility to, 2|attention Deficit-hyperactivity disorder, susceptibility to, type 2 predisposition MONDO:0012153 Alzheimer disease 9 biolink:Disease mondo UMLS:C1837149|MESH:C563834|OMIM:608907 http://identifiers.org/omim/608907|UMLS:C1837149|MESH:C563834 http://purl.obolibrary.org/obo/MONDO_0012153 Alzheimer disease 9|Alzheimer disease 9, susceptibility to|Alzheimer disease 9, susceptibility to; AD9|AD9|Alzheimer disease 9, late-onset|Alzheimer disease 9; AD9 NCBITaxon:12461 Hepatitis E virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12461 HEV|Hepatitis E virus HEV MONDO:0012154 myopia 6 biolink:Disease mondo GARD:0009937|MESH:C536105|OMIM:608908 Any myopia in which the cause of the disease is a mutation in the SCO2 gene. MESH:C536105|http://identifiers.org/omim/608908 http://purl.obolibrary.org/obo/MONDO_0012154 MYP6|myopia, susceptibility to|myopia 6|SCO2 myopia (disease)|myopia type 6|myopia 6; MYP6|myopia (disease) caused by mutation in SCO2 gard_rare ENVO:01001691 mass of compounded environmental materials biolink:OntologyClass mondo An mass of environmental materials which has appreciable quantities of several individual materials, such that the removal of one would convert the mass into a different entity. http://purl.obolibrary.org/obo/ENVO_01001691 MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 biolink:Disease mondo OMIM:608905 http://identifiers.org/omim/608905 http://purl.obolibrary.org/obo/MONDO_0012151 Adhd3|attention deficit-hyperactivity disorder, susceptibility to, 3|attention Deficit-hyperactivity disorder, susceptibility to, type 3 predisposition ENVO:01001690 mass of liquid biolink:OntologyClass mondo An object which is composed primarily of a liquid. http://purl.obolibrary.org/obo/ENVO_01001690 liquid mass MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 biolink:Disease mondo OMIM:608906 http://identifiers.org/omim/608906 http://purl.obolibrary.org/obo/MONDO_0012152 Adhd4|attention deficit-hyperactivity disorder, susceptibility to, 4|attention Deficit-hyperactivity disorder, susceptibility to, type 4 predisposition MONDO:0002611 obsolete benign epilepsy with centrotemporal spikes biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002611 MONDO:0002612 frontal lobe epilepsy biolink:Disease mondo MESH:D017034|DOID:3331|UMLS:C0085541|SCTID:230394006 A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9) DOID:3331|MESH:D017034|UMLS:C0085541|SNOMEDCT:230394006 http://purl.obolibrary.org/obo/MONDO_0002612 epilepsy of frontal lobe|frontal lobe epilepsy MONDO:0002613 histrionic personality disorder (disease) biolink:Disease mondo ICD10:F60.4|NCIT:C92634|SCTID:55341008|DOID:334|ICD9:301.50|HP:0012077|ICD9:301.59|COHD:440369|ICD9:301.5|MESH:D006677 A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior. NCIT:C92634|MESH:D006677|DOID:334|SNOMEDCT:55341008 http://purl.obolibrary.org/obo/MONDO_0002613 histrionic personality disorder MONDO:0002614 bone inflammation disease biolink:Disease mondo DOID:3342|MESH:D010000|UMLS:C0029400|SCTID:274144001 Inflammation of the bone. SNOMEDCT:274144001|DOID:3342|MESH:D010000|UMLS:C0029400 http://purl.obolibrary.org/obo/MONDO_0002614 osteitis|bone inflammatory disease|inflammatory disorder of bone MONDO:0002610 purpura (disease) biolink:Disease mondo MESH:D011693|ICD10:D69.2|UMLS:C0034150|HP:0000979|DOID:3326|SCTID:387778001 A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. MESH:D011693|UMLS:C0034150|NCIT:C78787|SNOMEDCT:387778001|DOID:3326 http://purl.obolibrary.org/obo/MONDO_0002610 purpura|purpuric disorder MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 biolink:Disease mondo OMIM:616353|UMLS:C4225356|DOID:0070024 Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene. http://identifiers.org/omim/616353|DOID:0070024|UMLS:C4225356 http://purl.obolibrary.org/obo/MONDO_0014600 dyskeratosis congenita, autosomal recessive 6|dyskeratosis congenita, autosomal recessive 6; DKCB6|dyskeratosis congenita caused by mutation in PARN|PARN dyskeratosis congenita|autosomal recessive dyskeratosis congenita 6|DKCB6|dyskeratosis congenita, autosomal recessive type 6 HGNC:6116 IRF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6116 HGNC:8778 PDE3A biolink:OntologyClass mondo http://identifiers.org/hgnc/8778 MONDO:0014604 Parkinson disease 21 biolink:Disease mondo UMLS:C4225353|OMIM:616361 Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene. http://identifiers.org/omim/616361|UMLS:C4225353 http://purl.obolibrary.org/obo/MONDO_0014604 Parkinson disease type 21|DNAJC13 hereditary late onset Parkinson disease|hereditary late onset Parkinson disease caused by mutation in DNAJC13|PARK21|Parkinson disease 21|Parkinson disease 21; PARK21 HGNC:6118 IRF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6118 MONDO:0014603 autosomal dominant nonsyndromic deafness 40 biolink:Disease mondo OMIM:616357|DOID:0110566|ICD10:H90.3|UMLS:C4084708 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene. DOID:0110566|UMLS:C4084708|http://identifiers.org/omim/616357 http://purl.obolibrary.org/obo/MONDO_0014603 deafness, autosomal dominant 40|autosomal dominant nonsyndromic deafness caused by mutation in CRYM|deafness, autosomal dominant type 40|deafness, autosomal dominant 40; DFNA40|CRYM autosomal dominant nonsyndromic deafness|autosomal dominant deafness 40|autosomal dominant nonsyndromic deafness type 40|DFNA40 MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome biolink:Disease mondo UMLS:C4225354|DOID:0070065|Orphanet:457279|OMIM:616355 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1. ORPHA:457279|http://identifiers.org/omim/616355|DOID:0070065|UMLS:C4225354 http://purl.obolibrary.org/obo/MONDO_0014602 mental retardation, autosomal dominant type 35|intellectual disability, autosomal dominant 35; MRD35|autosomal dominant mental retardation 35|intellectual disability, autosomal dominant 35|mental retardation, autosomal dominant 35; MRD35|mental retardation, autosomal dominant 35|autosomal dominant intellectual disability 35|intellectual disability, autosomal dominant type 35|autosomal dominant non-syndromic intellectual disability 35|MRD35 ordo_malformation_syndrome MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 biolink:Disease mondo Orphanet:397709|ICD10:Q87.8|OMIM:616354|DOID:0080066|UMLS:C4225355 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene. http://identifiers.org/omim/616354|ORPHA:397709|DOID:0080066|UMLS:C4225355 http://purl.obolibrary.org/obo/MONDO_0014601 autosomal recessive spinocerebellar ataxia type 20|spinocerebellar ataxia, autosomal recessive type 20|intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome|intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|spinocerebellar ataxia, autosomal recessive 20|SNX14 autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia caused by mutation in SNX14|spinocerebellar ataxia, autosomal recessive 20; SCAR20|SCAR20 ordo_malformation_syndrome MONDO:0002608 obsolete gangliosidosis GM2 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002608 MONDO:0002609 obsolete gangliosidosis GM1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002609 MONDO:0002604 pericytic neoplasm biolink:Disease mondo NCIT:C6528|UMLS:C1335392|DOID:3316 A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. DOID:3316|NCIT:C6528|UMLS:C1335392 http://purl.obolibrary.org/obo/MONDO_0002604 Pericytic neoplasm|Pericytic tumor|malignant perivascular cancer|perivascular neoplasm|perivascular tumor HGNC:8773 PDE11A biolink:OntologyClass mondo http://identifiers.org/hgnc/8773 MONDO:0002605 hepatic angiomyolipoma biolink:Disease mondo UMLS:C1333962|NCIT:C27485|DOID:3317 An angiomyolipoma arising from the liver. UMLS:C1333962|DOID:3317|NCIT:C27485 http://purl.obolibrary.org/obo/MONDO_0002605 liver PEComa|liver angiomyolipoma HGNC:8772 PDE10A biolink:OntologyClass mondo http://identifiers.org/hgnc/8772 MONDO:0002606 epithelioid type angiomyolipoma biolink:Disease mondo DOID:3318|UMLS:C1333426|NCIT:C38151 An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia. DOID:3318|NCIT:C38151|UMLS:C1333426 http://purl.obolibrary.org/obo/MONDO_0002606 MONDO:0002607 obsolete lymphangioleiomyomatosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002607 MONDO:0002622 multifocal osteogenic sarcoma biolink:Disease mondo DOID:3360|NCIT:C6470|UMLS:C1334820 A primary bone osteosarcoma affecting multiple bone sites. NCIT:C6470|UMLS:C1334820|DOID:3360 http://purl.obolibrary.org/obo/MONDO_0002622 multicentric osteosarcoma|multifocal osteosarcoma MONDO:0002623 pediatric osteosarcoma biolink:Disease mondo UMLS:C1332986|DOID:3361|NCIT:C6585 An osteosarcoma occurring in childhood. NCIT:C6585|UMLS:C1332986|DOID:3361 http://purl.obolibrary.org/obo/MONDO_0002623 childhood osteogenic sarcoma|pediatric osteosarcoma|childhood osteosarcoma (disease)|osteosarcoma|osteosarcoma (disease) of childhood|pediatric osteosarcoma (disease)|childhood osteosarcoma|pediatric osteosarcoma (disease) MONDO:0002624 bone leiomyosarcoma biolink:Disease mondo UMLS:C1332579|NCIT:C7154|DOID:3367 A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells. UMLS:C1332579|DOID:3367|NCIT:C7154 http://purl.obolibrary.org/obo/MONDO_0002624 leiomyosarcoma of bone|bone leiomyosarcoma|leiomyosarcoma of bone tissue|bone tissue leiomyosarcoma MONDO:0002625 Ewing sarcoma of bone biolink:Disease mondo SCTID:307608006|ICD9:170.9|UMLS:C0585474|DOID:3368|NCIT:C4835 A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor. DOID:3368|SNOMEDCT:307608006|NCIT:C4835|UMLS:C0585474 http://purl.obolibrary.org/obo/MONDO_0002625 skeletal Ewing's sarcoma|bone Ewing's sarcoma|bone localized Ewing's sarcoma|osseous Ewing's sarcoma|bone tissue Ewing sarcoma|bone Ewing's sarcoma|Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor|skeletal Ewing's tumor|Ewing's sarcoma, osseous|osseous Ewing's tumor|localized skeletal Ewing's sarcoma|Ewing sarcoma of bone|bone Ewing sarcoma|Ewing's sarcoma of bone|bone localized Ewing sarcoma MONDO:0002620 localized osteosarcoma biolink:Disease mondo UMLS:C0278511|DOID:3356|NCIT:C7780 A non-disseminated osteosarcoma. NCIT:C7780|UMLS:C0278511|DOID:3356 http://purl.obolibrary.org/obo/MONDO_0002620 localized osteogenic sarcoma|localized osteosarcoma|osteosarcoma, localized UBERON:0035450 cervical part of esophagus biolink:AnatomicalEntity mondo Clinical esophageal segment composed of skeletal muscle. It corresponds to the superior part of the upper third topographic segment of the esophagus. http://purl.obolibrary.org/obo/UBERON_0035450 pars colli oesophageae|cervical esophagus|pars cervicalis (oesophagus)|cervical part of oesophagus|pars cervicalis oesophageae MONDO:0002621 extraosseous osteosarcoma biolink:Disease mondo NCIT:C8810|ICD9:170.9|SCTID:404077005|DOID:3357|UMLS:C0855052 An osteosarcoma arising from the soft tissue. SNOMEDCT:404077005|UMLS:C0855052|NCIT:C8810|DOID:3357 http://purl.obolibrary.org/obo/MONDO_0002621 extraskeletal osteosarcoma|osteosarcoma, extraskeletal, malignant|soft tissue osteosarcoma|extraskeletal osteogenic sarcoma|extraosseous osteosarcoma HGNC:6125 IRS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6125 HGNC:8788 PDE6D biolink:OntologyClass mondo http://identifiers.org/hgnc/8788 HGNC:8787 PDE6C biolink:OntologyClass mondo http://identifiers.org/hgnc/8787 HGNC:6126 IRS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6126 HGNC:8789 PDE6G biolink:OntologyClass mondo http://identifiers.org/hgnc/8789 CHEBI:16842 formaldehyde biolink:ChemicalSubstance mondo An aldehyde resulting from the formal oxidation of methanol. http://purl.obolibrary.org/obo/CHEBI_16842 FORMALIN|Formalin|Methanal|Formaldehyd|Methylene oxide|FORMALDEHYDE|formaldehyde|Formaldehyde|Oxomethylene|Oxomethane MONDO:0002619 bone fibrosarcoma biolink:Disease mondo DOID:3354|NCIT:C6604|UMLS:C2733623 A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. DOID:3354|NCIT:C6604|UMLS:C2733623 http://purl.obolibrary.org/obo/MONDO_0002619 bone tissue fibrosarcoma (disease)|fibrosarcoma of bone|bone fibrosarcoma|fibrosarcoma of the bone HGNC:6120 IRF5 biolink:OntologyClass mondo http://identifiers.org/hgnc/6120 MONDO:0002615 xanthomatosis (disease) biolink:Disease mondo DOID:3345|UMLS:C0043325|HP:0000991|SCTID:63103006 A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells. DOID:3345|UMLS:C0043325|SNOMEDCT:63103006 http://purl.obolibrary.org/obo/MONDO_0002615 xanthelasmatosis|xanthomatosis HGNC:6121 IRF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/6121 MONDO:0002616 mesenchymal cell neoplasm biolink:Disease mondo NCIT:C7059|DOID:3350|UMLS:C1334699 A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma. NCIT:C7059|DOID:3350|UMLS:C1334699 http://purl.obolibrary.org/obo/MONDO_0002616 benign miscellaneous mesenchymal tumor|mesenchymal tumor|mesenchymal neoplasm|mesenchymal cell neoplasm|mesenchymal cell tumor HGNC:6122 IRF7 biolink:OntologyClass mondo http://identifiers.org/hgnc/6122 HGNC:8783 PDE4D biolink:OntologyClass mondo http://identifiers.org/hgnc/8783 MONDO:0002617 bone angiosarcoma biolink:Disease mondo UMLS:C1332574|DOID:3351|NCIT:C6479 A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation. DOID:3351|NCIT:C6479|UMLS:C1332574 http://purl.obolibrary.org/obo/MONDO_0002617 bone hemangiosarcoma|angiosarcoma (disease) of bone tissue|bone angioendothelial sarcoma|osseous hemangiosarcoma|bone tissue angiosarcoma (disease)|osseous angioendothelial sarcoma|bone angiosarcoma|osseous angiosarcoma|bone Hemangioendothelial sarcoma HGNC:8786 PDE6B biolink:OntologyClass mondo http://identifiers.org/hgnc/8786 MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone biolink:Disease mondo NCIT:C8563|DOID:3352|UMLS:C0740479 A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs. UMLS:C0740479|NCIT:C8563|DOID:3352 http://purl.obolibrary.org/obo/MONDO_0002618 undifferentiated high-grade pleomorphic sarcoma|malignant fibrous histiocytoma of bone|undifferentiated high grade pleomorphic sarcoma|malignant bone fibrous histiocytoma|undifferentiated high grade pleomorphic sarcoma of bone|malignant fibrous histiocytoma of the bone HGNC:8785 PDE6A biolink:OntologyClass mondo http://identifiers.org/hgnc/8785 UBERON:0035465 endometrial cavity biolink:AnatomicalEntity mondo A space inside the uterus lined by a layer of mucus membranes called the endometrium. http://purl.obolibrary.org/obo/UBERON_0035465 endometrial lumen|cavity of body of uterus|intrauterine cavity|endometrial cavity HGNC:6137 ITGA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6137 HGNC:6138 ITGA2B biolink:OntologyClass mondo http://identifiers.org/hgnc/6138 HGNC:6139 ITGA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6139 CHEBI:16874 psychosine biolink:ChemicalSubstance mondo A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position. http://purl.obolibrary.org/obo/CHEBI_16874 (2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl beta-D-galactopyranoside|beta-psychosine|Galactosylsphingosine|sphingosine galactoside|1-O-beta-D-galactopyranosylsphingosine|Psychosine|1-beta-D-galactosylsphingosine|(2S,3R,4E)-2-amino-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-ene|1-O-beta-D-galactosylsphingosine|O-galactosylsphingosine|O-Galactosylsphingosine|1-beta-D-galactosphingosine HGNC:8790 PDE6H biolink:OntologyClass mondo http://identifiers.org/hgnc/8790 CHEBI:28829 aminophenol biolink:ChemicalSubstance mondo A substituted aniline carrying a hydroxy substituent. http://purl.obolibrary.org/obo/CHEBI_28829 aminobenzenol|aminophenol|hydroxyaniline HGNC:8794 PDE8B biolink:OntologyClass mondo http://identifiers.org/hgnc/8794 MONDO:0002600 obsolete mixed germ cell cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002600 MONDO:0002601 teratoma biolink:Disease mondo ONCOTREE:TT|ICDO:9080/1|DOID:3307|SCTID:36591000119102|MESH:D013724|NCIT:C3403 A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. MESH:D013724|DOID:3307|SNOMEDCT:36591000119102|NCIT:C3403 http://purl.obolibrary.org/obo/MONDO_0002601 teratoma NCBITaxon:1538075 Malasseziomycetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1538075 MONDO:0002602 central nervous system disease biolink:Disease mondo SCTID:23853001|MESH:D002493|NCIT:C2934|DOID:331|UMLS:C0007682|ICD10:G96.9 A disease involving the central nervous system. SNOMEDCT:23853001|UMLS:C0007682|MESH:D002493|DOID:331|NCIT:C2934 http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease or disorder|disorder of central nervous system|central nervous system disease|disease of central nervous system|disorder of central nervous system|disease or disorder of central nervous system|central nervous system disorder|central nervous disease MONDO:0002603 angiomyolipoma biolink:Disease mondo DOID:3314|NCIT:C3734|GARD:0012024|MESH:D018207|ICDO:8860/0|UMLS:C0206633 A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. UMLS:C0206633|DOID:3314|MESH:D018207|NCIT:C3734 http://purl.obolibrary.org/obo/MONDO_0002603 angiomyolipoma (morphologic abnormality) UBERON:0035471 posterior surface of kidney biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035471 facies posterior (Ren)|facies posterior renis HGNC:6149 ITGAM biolink:OntologyClass mondo http://identifiers.org/hgnc/6149 HGNC:6142 ITGA6 biolink:OntologyClass mondo http://identifiers.org/hgnc/6142 HGNC:6143 ITGA7 biolink:OntologyClass mondo http://identifiers.org/hgnc/6143 HGNC:6144 ITGA8 biolink:OntologyClass mondo http://identifiers.org/hgnc/6144 MONDO:0002655 cutaneous Paget disease biolink:Disease mondo DOID:3450 A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. DOID:3450 http://purl.obolibrary.org/obo/MONDO_0002655 zone of skin Paget disease|cutaneous Paget's disease|extramammary Paget's disease|Paget's disease of skin|cutaneous Paget disease MONDO:0002656 skin carcinoma biolink:Disease mondo NCIT:C4914|UMLS:C0699893|DOID:3451 A carcinoma that arises from epithelial cells of the zone of skin NCIT:C4914|UMLS:C0699893|DOID:3451 http://purl.obolibrary.org/obo/MONDO_0002656 non-melanoma skin cancer|carcinoma of zone of skin|non-melanoma cancer of skin|zone of skin carcinoma|carcinoma of the skin|non-melanoma cancer of the skin|carcinoma of skin|nonmelanoma skin cancer|skin carcinoma|skin cancer, non-melanoma MONDO:0002657 breast disease biolink:Disease mondo MESH:D001941|ICD10:N60-N65|SCTID:79604008|ICD10:N64.9|COHD:77030|ICD9:611.8|NCIT:C26709|UMLS:C0006145|DOID:3463|ICD9:610-612.99|ICD9:611.9 A disease involving the breast. SNOMEDCT:79604008|NCIT:C26709|MESH:D001941|DOID:3463|UMLS:C0006145 http://purl.obolibrary.org/obo/MONDO_0002657 breast diseases|breast disease or disorder|disorder of breast|breast disorder|disease of breast|disease or disorder of breast|disorder of breast|breast disease MONDO:0002658 iris cancer biolink:Disease mondo NCIT:C4554|SCTID:188264002|EFO:1000996|UMLS:C0346372|DOID:3478 A malignant neoplasm involving the iris. NCIT:C4554|UMLS:C0346372|SNOMEDCT:188264002|DOID:3478 http://purl.obolibrary.org/obo/MONDO_0002658 malignant tumor of iris|tumor of the iris|cancer of iris|malignant tumor of the iris|iris cancer|malignant neoplasm of iris|malignant iris tumor|malignant iris neoplasm|malignant neoplasm of the iris MONDO:0002651 anal Paget disease biolink:Disease mondo DOID:3446|NCIT:C5598|UMLS:C1332274 A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO). UMLS:C1332274|DOID:3446|NCIT:C5598 http://purl.obolibrary.org/obo/MONDO_0002651 anal Paget disease|anal Paget's disease|anus mammary Paget's disease|anus Paget disease|Paget disease of the anus|Paget's disease of anus|Paget's disease of the anus MONDO:0002652 anus adenocarcinoma biolink:Disease mondo SCTID:423607006|DOID:3447|NCIT:C5600|UMLS:C1332257 An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis. UMLS:C1332257|SNOMEDCT:423607006|DOID:3447|NCIT:C5600 http://purl.obolibrary.org/obo/MONDO_0002652 anus adenocarcinoma|anal adenocarcinoma|adenocarcinoma of anus|adenocarcinoma of the anus MONDO:0002653 Paget disease of the penis biolink:Disease mondo SCTID:398768004|DOID:3448|NCIT:C27817|UMLS:C0221286 A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003 SNOMEDCT:398768004|DOID:3448|UMLS:C0221286|NCIT:C27817 http://purl.obolibrary.org/obo/MONDO_0002653 penile adenocarcinoma|penis Paget's disease|Paget's disease of penis|Paget's disease of the penis|Paget disease of the penis|penis Paget disease|penis mammary Paget's disease MONDO:0002654 uterine disease biolink:Disease mondo ICD10:N85.9|UMLS:C0042131|SCTID:12337004|ICD9:621.8|NCIT:C26907|ICD9:621.9|DOID:345|MESH:D014591 A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. NCIT:C26907|SNOMEDCT:12337004|UMLS:C0042131|MESH:D014591|DOID:345 http://purl.obolibrary.org/obo/MONDO_0002654 uterus disease or disorder|disorder of uterus|uterine disease|disease or disorder of uterus|disease of uterus|disorder of uterus|uterine disorder|uterus disease MONDO:0014639 familial temporal lobe epilepsy 7 biolink:Disease mondo UMLS:C4225327|OMIM:616436|DOID:0060751 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22. http://identifiers.org/omim/616436|DOID:0060751|UMLS:C4225327 http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy type 7|epilepsy, familial temporal lobe, 7; ETL7|epilepsy, familial temporal lobe, 7|ETL7|epilepsy, familial temporal lobe, type 7 MONDO:0002650 scrotal carcinoma biolink:Disease mondo DOID:3445|UMLS:C1370468|NCIT:C6389 A carcinoma that arises from epithelial cells of the scrotum. DOID:3445|NCIT:C6389|UMLS:C1370468 http://purl.obolibrary.org/obo/MONDO_0002650 carcinoma of the scrotum|cancer of the scrotum|scrotum carcinoma|cancer of scrotum|carcinoma of scrotum|scrotal cancer MONDO:0014638 Fanconi anemia complementation group T biolink:Disease mondo UMLS:C4084840|OMIM:616435|DOID:0111081 Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. UMLS:C4084840|http://identifiers.org/omim/616435|DOID:0111081 http://purl.obolibrary.org/obo/MONDO_0014638 Fanconi Anemia, complementation group type T|FANCT|UBE2T Fanconi anemia|Fanconi anemia caused by mutation in UBE2T|Fanconi anemia complementation group type T|Fanconi anemia, complementation group T|Fanconi anemia, complementation group T; FANCT UBERON:0035401 posterior wall of nasopharynx biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035401 posterior nasopharynx UBERON:0035403 hypophysial artery biolink:AnatomicalEntity mondo An artery that supplies the pituitary gland. http://purl.obolibrary.org/obo/UBERON_0035403 MONDO:0014644 hereditary spastic paraplegia 74 biolink:Disease mondo DOID:0110819|Orphanet:468661|OMIM:616451|UMLS:C4225322 Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. ORPHA:468661|UMLS:C4225322|DOID:0110819|http://identifiers.org/omim/616451 http://purl.obolibrary.org/obo/MONDO_0014644 IBA57 hereditary spastic paraplegia|spastic paraplegia 74, autosomal recessive|hereditary spastic paraplegia caused by mutation in IBA57|hereditary spastic paraplegia type 74|autosomal recessive spastic paraplegia 74|spastic paraplegia 74, autosomal recessive; SPG74|SPG74|autosomal recessive spastic paraplegia type 74 ordo_disease HGNC:6158 ITGB4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6158 MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome biolink:Disease mondo Orphanet:464738|OMIM:616449|UMLS:C4225323 UMLS:C4225323|ORPHA:464738|http://identifiers.org/omim/616449 http://purl.obolibrary.org/obo/MONDO_0014643 BVSYS|BASEL-Vanagaite-SMIRIN-YOSEF syndrome; BVSYS|BASEL-Vanagaite-SMIRIN-YOSEF syndrome ordo_malformation_syndrome MONDO:0014642 candidiasis, familial, 9 biolink:Disease mondo UMLS:C4225324|OMIM:616445 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene. UMLS:C4225324|http://identifiers.org/omim/616445 http://purl.obolibrary.org/obo/MONDO_0014642 candidiasis, familial, 9|candidiasis, familial, 9; CANDF9|candidiasis, familial, type 9|IL17RC chronic mucocutaneous candidiasis (disease)|chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC|CANDF9 MONDO:0014641 FTDALS4 biolink:Disease mondo UMLS:C4225325|OMIM:616439|DOID:0110069 An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. UMLS:C4225325|DOID:0110069|http://identifiers.org/omim/616439 http://purl.obolibrary.org/obo/MONDO_0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4; FTDALS4|frontotemporal dementia and/or amyotrophic lateral sclerosis 4|frontotemporal dementia and/or amyotrophic lateral sclerosis type 4|FTDALS4 MONDO:0014648 Al-Raqad syndrome biolink:Disease mondo UMLS:C4085595|OMIM:616459 UMLS:C4085595|http://identifiers.org/omim/616459 http://purl.obolibrary.org/obo/MONDO_0014648 ARS|AL-RAQAD syndrome; ARS|Al-Raqad syndrome MONDO:0014647 developmental and epileptic encephalopathy, 50 biolink:Disease mondo Orphanet:448010|OMIM:616457|ICD10:E77.8|UMLS:C4225320 ORPHA:448010|UMLS:C4225320|http://identifiers.org/omim/616457 http://purl.obolibrary.org/obo/MONDO_0014647 CAD-CDG|congenital disorder of glycosylation, type Iz, formerly|CDG1Z|congenital disorder of glycosylation type 1z|carbohydrate deficient glycoprotein syndrome type Iz|CDG-Iz|epileptic encephalopathy, early infantile, 50; EIEE50|congenital disorder of glycosylation, type Iz|epileptic encephalopathy, early infantile, 50|DEE50|congenital disorder of glycosylation, type Iz; CDG1Z|EIEE50|CDG syndrome type Iz ordo_disease MONDO:0014646 Zimmermann-Laband syndrome 2 biolink:Disease mondo UMLS:C4225321|OMIM:616455 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene. UMLS:C4225321|http://identifiers.org/omim/616455 http://purl.obolibrary.org/obo/MONDO_0014646 Zimmermann-Laband syndrome 2|Zimmermann-Laband syndrome type 2|ZLS2|ATP6V1B2 Zimmermann-Laband syndrome|Zimmermann-Laband syndrome caused by mutation in ATP6V1B2|Zimmermann-Laband syndrome 2; ZLS2 MONDO:0014645 BENTA disease biolink:Disease mondo GARD:0013339|Orphanet:464336|UMLS:CN231446|OMIM:616452|UMLS:CN242071 BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N4)-beta-D-galactanase activity|activation of sumiklat|up-regulation of beta-D-galactoside galactohydrolase activity|up-regulation of oryzatym|up-regulation of maxilact|upregulation of sumiklat|positive regulation of lactozym|up regulation of exo-(1->4)-beta-D-galactanase activity|up-regulation of beta-D-galactanase activity|upregulation of beta-galactosidase activity|positive regulation of lactose hydrolysis|up-regulation of beta-lactosidase activity|upregulation of beta-D-lactosidase activity|up regulation of hydrolact|positive regulation of S 2107|up regulation of lactozym|up regulation of lactose hydrolysis|up-regulation of trilactase activity|activation of exo-(1->4)-beta-D-galactanase activity|up-regulation of exo-(1->4)-beta-D-galactanase activity|up regulation of beta-D-galactanase activity|positive regulation of sumiklat|positive regulation of hydrolact|up regulation of beta-lactosidase activity|up regulation of S 2107|activation of beta-D-galactanase activity|positive regulation of beta-D-galactanase activity|upregulation of beta-D-galactoside galactohydrolase activity|activation of maxilact|up-regulation of lactose hydrolysis|up-regulation of lactozym|up regulation of trilactase activity|activation of beta-lactosidase activity|up regulation of sumiklat|activation of oryzatym|activation of trilactase activity|upregulation of maxilact|upregulation of oryzatym|positive regulation of beta-lactosidase activity|positive regulation of trilactase activity|up-regulation of beta-galactosidase activity|upregulation of hydrolact|up-regulation of S 2107|up-regulation of sumiklat|up-regulation of beta-D-lactosidase activity|activation of hydrolact|positive regulation of beta-D-galactoside galactohydrolase activity|upregulation of beta-D-galactanase activity|positive regulation of maxilact|upregulation of exo-(1->4)-beta-D-galactanase activity|upregulation of beta-lactosidase activity|up regulation of beta-galactosidase activity|positive regulation of oryzatym GO:1903770 negative regulation of beta-galactosidase activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of beta-galactosidase activity. http://purl.obolibrary.org/obo/GO_1903770 negative regulation of lactozym|down-regulation of lactose hydrolysis|negative regulation of lactose hydrolysis|down regulation of sumiklat|down-regulation of lactozym|down regulation of beta-D-galactanase activity|down regulation of beta-lactosidase activity|down-regulation of S 2107|downregulation of beta-D-galactoside galactohydrolase activity|negative regulation of S 2107|downregulation of hydrolact|down regulation of trilactase activity|downregulation of maxilact|downregulation of oryzatym|down-regulation of sumiklat|negative regulation of sumiklat|down-regulation of beta-galactosidase activity|downregulation of beta-D-galactanase activity|inhibition of lactozym|inhibition of beta-D-galactanase activity|inhibition of lactose hydrolysis|down-regulation of beta-D-lactosidase activity|negative regulation of beta-D-lactosidase activity|inhibition of beta-lactosidase activity|downregulation of beta-lactosidase activity|down regulation of beta-D-galactoside galactohydrolase activity|inhibition of S 2107|inhibition of trilactase activity|downregulation of trilactase activity|down regulation of maxilact|inhibition of sumiklat|downregulation of exo-(1->4)-beta-D-galactanase activity|down regulation of oryzatym|inhibition of hydrolact|down regulation of beta-galactosidase activity|inhibition of beta-D-galactoside galactohydrolase activity|down regulation of beta-D-lactosidase activity|downregulation of lactozym|negative regulation of beta-D-galactoside galactohydrolase activity|downregulation of lactose hydrolysis|down-regulation of beta-D-galactoside galactohydrolase activity|negative regulation of maxilact|down-regulation of maxilact|down-regulation of oryzatym|negative regulation of oryzatym|down regulation of exo-(1->4)-beta-D-galactanase activity|downregulation of beta-galactosidase activity|negative regulation of hydrolact|inhibition of beta-galactosidase activity|down-regulation of hydrolact|downregulation of S 2107|downregulation of beta-D-lactosidase activity|inhibition of beta-D-lactosidase activity|downregulation of sumiklat|down-regulation of beta-D-galactanase activity|down regulation of lactozym|down regulation of lactose hydrolysis|negative regulation of beta-D-galactanase activity|inhibition of exo-(1->4)-beta-D-galactanase activity|inhibition of oryzatym|down regulation of hydrolact|negative regulation of beta-lactosidase activity|down-regulation of beta-lactosidase activity|negative regulation of exo-(1->4)-beta-D-galactanase activity|inhibition of maxilact|down-regulation of exo-(1->4)-beta-D-galactanase activity|negative regulation of trilactase activity|down-regulation of trilactase activity|down regulation of S 2107 GO:1903779 regulation of cardiac conduction biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cardiac conduction. http://purl.obolibrary.org/obo/GO_1903779 GO:1903781 positive regulation of cardiac conduction biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cardiac conduction. http://purl.obolibrary.org/obo/GO_1903781 upregulation of cardiac conduction|up regulation of cardiac conduction|activation of cardiac conduction|up-regulation of cardiac conduction GO:1903780 negative regulation of cardiac conduction biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cardiac conduction. http://purl.obolibrary.org/obo/GO_1903780 down regulation of cardiac conduction|inhibition of cardiac conduction|down-regulation of cardiac conduction|downregulation of cardiac conduction GO:0061337 cardiac conduction biolink:OntologyClass mondo Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles. http://purl.obolibrary.org/obo/GO_0061337 NCBITaxon:12637 Dengue virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12637 GO:1903789 regulation of amino acid transmembrane transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of amino acid transmembrane transport. http://purl.obolibrary.org/obo/GO_1903789 regulation of amino acid membrane transport GO:1903788 positive regulation of glutathione biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of glutathione biosynthetic process. http://purl.obolibrary.org/obo/GO_1903788 up regulation of glutathione anabolism|up-regulation of glutathione synthesis|activation of glutathione anabolism|positive regulation of glutathione anabolism|upregulation of glutathione biosynthesis|upregulation of glutathione biosynthetic process|up-regulation of glutathione formation|up regulation of glutathione synthesis|positive regulation of glutathione biosynthesis|activation of glutathione synthesis|positive regulation of glutathione synthesis|upregulation of glutathione anabolism|up regulation of glutathione formation|up regulation of glutathione biosynthetic process|up regulation of glutathione biosynthesis|activation of glutathione formation|positive regulation of glutathione formation|upregulation of glutathione synthesis|up-regulation of glutathione biosynthesis|up-regulation of glutathione biosynthetic process|activation of glutathione biosynthesis|activation of glutathione biosynthetic process|up-regulation of glutathione anabolism|upregulation of glutathione formation GO:1903787 negative regulation of glutathione biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of glutathione biosynthetic process. http://purl.obolibrary.org/obo/GO_1903787 down regulation of glutathione biosynthetic process|down regulation of glutathione biosynthesis|down regulation of glutathione formation|inhibition of glutathione biosynthetic process|inhibition of glutathione biosynthesis|inhibition of glutathione synthesis|downregulation of glutathione synthesis|down-regulation of glutathione biosynthetic process|negative regulation of glutathione biosynthesis|down-regulation of glutathione biosynthesis|inhibition of glutathione formation|downregulation of glutathione formation|negative regulation of glutathione anabolism|down-regulation of glutathione anabolism|down regulation of glutathione anabolism|negative regulation of glutathione synthesis|down-regulation of glutathione synthesis|downregulation of glutathione biosynthetic process|downregulation of glutathione biosynthesis|inhibition of glutathione anabolism|down regulation of glutathione synthesis|downregulation of glutathione anabolism|negative regulation of glutathione formation|down-regulation of glutathione formation GO:1903786 regulation of glutathione biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glutathione biosynthetic process. http://purl.obolibrary.org/obo/GO_1903786 regulation of glutathione synthesis|regulation of glutathione formation|regulation of glutathione anabolism|regulation of glutathione biosynthesis GO:1903793 positive regulation of anion transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of anion transport. http://purl.obolibrary.org/obo/GO_1903793 up regulation of anion transport|activation of anion transport|upregulation of anion transport|up-regulation of anion transport GO:1903792 negative regulation of anion transport biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of anion transport. http://purl.obolibrary.org/obo/GO_1903792 down-regulation of anion transport|down regulation of anion transport|downregulation of anion transport|inhibition of anion transport GO:1901137 carbohydrate derivative biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of carbohydrate derivative. http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative anabolism|carbohydrate derivative synthesis|carbohydrate derivative biosynthesis|carbohydrate derivative formation GO:1903797 positive regulation of inorganic anion transmembrane transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of inorganic anion transmembrane transport. http://purl.obolibrary.org/obo/GO_1903797 up regulation of inorganic anion transmembrane transport|up regulation of transmembrane inorganic anion transport|activation of inorganic anion transmembrane transport|activation of transmembrane inorganic anion transport|positive regulation of transmembrane inorganic anion transport|upregulation of inorganic anion membrane transport|upregulation of inorganic anion transmembrane transport|upregulation of transmembrane inorganic anion transport|positive regulation of inorganic anion membrane transport|up regulation of inorganic anion membrane transport|activation of inorganic anion membrane transport|up-regulation of transmembrane inorganic anion transport|up-regulation of inorganic anion membrane transport|up-regulation of inorganic anion transmembrane transport GO:1903796 negative regulation of inorganic anion transmembrane transport biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of inorganic anion transmembrane transport. http://purl.obolibrary.org/obo/GO_1903796 down regulation of inorganic anion membrane transport|inhibition of inorganic anion membrane transport|negative regulation of inorganic anion membrane transport|down-regulation of inorganic anion membrane transport|negative regulation of transmembrane inorganic anion transport|down-regulation of inorganic anion transmembrane transport|down-regulation of transmembrane inorganic anion transport|down regulation of inorganic anion transmembrane transport|down regulation of transmembrane inorganic anion transport|downregulation of inorganic anion membrane transport|downregulation of inorganic anion transmembrane transport|downregulation of transmembrane inorganic anion transport|inhibition of inorganic anion transmembrane transport|inhibition of transmembrane inorganic anion transport GO:1901135 carbohydrate derivative metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving carbohydrate derivative. http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolism GO:1903795 regulation of inorganic anion transmembrane transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of inorganic anion transmembrane transport. http://purl.obolibrary.org/obo/GO_1903795 regulation of transmembrane inorganic anion transport|regulation of inorganic anion membrane transport GO:0097325 melanocyte proliferation biolink:OntologyClass mondo The multiplication or reproduction of melanocytes, resulting in the expansion of a cell population. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance. http://purl.obolibrary.org/obo/GO_0097325 HGNC:25583 ODAD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25583 GO:1901148 gene expression involved in extracellular matrix organization biolink:OntologyClass mondo Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_1901148 extracellular matrix protein production|expression of extracellular matrix proteins GO:0061370 testosterone biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. http://purl.obolibrary.org/obo/GO_0061370 MONDO:0002578 botryoid rhabdomyosarcoma biolink:Disease mondo DOID:3255|UMLS:C1306574|NCIT:C9150|SCTID:404052009|ICD9:171.9|GARD:0009398|UMLS:C1306573 A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. DOID:3255|SNOMEDCT:404052009|UMLS:C1306573|UMLS:C1306574|NCIT:C9150 http://purl.obolibrary.org/obo/MONDO_0002578 botryoid-type embryonal rhabdomyosarcoma|botryoid sarcoma|sarcoma botryoides|botryoid sarcoma (morphologic abnormality) UBERON:0011191 ophthalmic vein biolink:AnatomicalEntity mondo Ophthalmic veins are veins which drain the eye. More specifically, they can refer to: Superior ophthalmic vein Inferior ophthalmic vein http://purl.obolibrary.org/obo/UBERON_0011191 opthalmic vein|vena ophthalmica HGNC:25568 FANCI biolink:OntologyClass mondo http://identifiers.org/hgnc/25568 MONDO:0002579 orbit embryonal rhabdomyosarcoma biolink:Disease mondo DOID:3258|UMLS:C1335127|NCIT:C6246 A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features. DOID:3258|NCIT:C6246|UMLS:C1335127 http://purl.obolibrary.org/obo/MONDO_0002579 embryonal rhabdomyosarcoma of the orbit|embryonal rhabdomyosarcoma of orbit HGNC:25567 ATAD3A biolink:OntologyClass mondo http://identifiers.org/hgnc/25567 HGNC:25566 SETD5 biolink:OntologyClass mondo http://identifiers.org/hgnc/25566 MONDO:0002574 prostate embryonal rhabdomyosarcoma biolink:Disease mondo NCIT:C5525|DOID:3251|UMLS:C1335508 A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features. DOID:3251|NCIT:C5525|UMLS:C1335508 http://purl.obolibrary.org/obo/MONDO_0002574 embryonal rhabdomyosarcoma (disease) of prostate gland|embryonal rhabdomyosarcoma of prostate|prostate gland embryonal rhabdomyosarcoma (disease)|prostate embryonal rhabdomyosarcoma|embryonal rhabdomyosarcoma of the prostate MONDO:0002575 obsolete prostate rhabdomyosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002575 MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma biolink:Disease mondo DOID:3253|UMLS:C1333505|NCIT:C5847 An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts. DOID:3253|NCIT:C5847|UMLS:C1333505 http://purl.obolibrary.org/obo/MONDO_0002576 extrahepatic bile duct embryonal rhabdomyosarcoma (disease)|extrahepatic bile duct embryonal rhabdomyosarcoma|embryonal extrahepatic bile duct rhabdomyosarcoma|embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct|embryonal rhabdomyosarcoma of extrahepatic bile duct|embryonal rhabdomyosarcoma of the extrahepatic bile duct MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma biolink:Disease mondo DOID:3254|UMLS:C2064434|NCIT:C5860 A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts. DOID:3254|UMLS:C2064434|NCIT:C5860 http://purl.obolibrary.org/obo/MONDO_0002577 rhabdomyosarcoma of the bile duct|extrahepatic bile duct rhabdomyosarcoma|bile duct rhabdomyosarcoma|bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of extrahepatic bile duct|extrahepatic bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of the extrahepatic bile duct|rhabdomyosarcoma (disease) of extrahepatic bile duct MONDO:0002570 high pressure neurological syndrome biolink:Disease mondo DOID:3230|UMLS:C0019537|MESH:D006610 A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium. UMLS:C0019537|MESH:D006610|DOID:3230 http://purl.obolibrary.org/obo/MONDO_0002570 MONDO:0002571 primary central nervous system lymphoma biolink:Disease mondo ONCOTREE:PCNSL|ICD9:200.5|COHD:373152|NCIT:C9301|Orphanet:46135|ICD10:C83.3|SCTID:307649006|EFO:1000157|GARD:0009318|MedDRA:10036685|UMLS:C0742472|DOID:3234 A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis. SNOMEDCT:307649006|UMLS:C0280803|ORPHA:46135|UMLS:C0742472|MEDDRA:10036685|NCIT:C9301|DOID:3234 http://purl.obolibrary.org/obo/MONDO_0002571 primary CNS lymphoma|lymphoma of central nervous system|central nervous system lymphoma|malignant lymphomas of the CNS|primary brain lymphoma|PCNSL|malignant lymphomas of CNS|primary lymphoma, CNS|microglioma|primary central nervous system lymphoma|CNS lymphoma ordo_disease UBERON:0035165 posterior surface of prostate biolink:AnatomicalEntity mondo The flattened aspect of the prostate with a slight furrow facing the rectum and anus. http://purl.obolibrary.org/obo/UBERON_0035165 posterior surface of prostate gland|facies posterior (prostatae)|facies posterior prostatae UBERON:0011198 muscle layer of large intestine biolink:AnatomicalEntity mondo A muscle layer that is part of a large intestine. http://purl.obolibrary.org/obo/UBERON_0011198 muscular layer of large intestine|tunica muscularis intestini crassi|muscularis externa of large intestine|muscular coat of large intestine MONDO:0002572 aspiration pneumonitis biolink:Disease mondo DOID:3240|NCIT:C34932|SCTID:155597006|ICD10:J69.0|UMLS:C1761609 Inflammation of the lungs due to the inhalation of solid or liquid material. NCIT:C34932|UMLS:C1761609|SNOMEDCT:155597006|DOID:3240 http://purl.obolibrary.org/obo/MONDO_0002572 aspiration pneumonia|chemical pneumonitis|Mendelson's syndrome UBERON:0011197 parathyroid epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a parathyroid gland. http://purl.obolibrary.org/obo/UBERON_0011197 MONDO:0002573 obsolete pleomorphic rhabdomyosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002573 MONDO:0014567 glutamate pyruvate transaminase 2 deficiency biolink:Disease mondo Orphanet:477673|OMIM:616281 ORPHA:477673|http://identifiers.org/omim/616281 http://purl.obolibrary.org/obo/MONDO_0014567 mental retardation, autosomal recessive 49; MRT49|MRT49|postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome|GPT2 deficiency|mental retardation, autosomal recessive 49|mental retardation, autosomal recessive type 49 ordo_disease MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U biolink:Disease mondo OMIM:616280|UMLS:C4084821|Orphanet:397735|SCTID:765046002|ICD10:G60.0|DOID:0110173 Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. DOID:0110173|SNOMEDCT:765046002|ORPHA:397735|UMLS:C4084821|http://identifiers.org/omim/616280 http://purl.obolibrary.org/obo/MONDO_0014566 autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation|MARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy, type 2U|autosomal dominant Charcot-Marie-Tooth disease type 2U|Charcot-Marie-Tooth disease, axonal, type 2U|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U|Charcot-Marie-Tooth disease type 2 caused by mutation in MARS|autosomal dominant axonal Charcot-Marie-Tooth disease type 2U|CMT2U|Charcot-Marie-Tooth disease, axonal, type 2U; CMT2U|Charcot-Marie-Tooth neuropathy type 2U ordo_disease CL:0001054 CD14-positive monocyte biolink:Cell mondo A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20. http://purl.obolibrary.org/obo/CL_0001054 monocyte MONDO:0014565 cataract 43 biolink:Disease mondo OMIM:616279|DOID:0110259|ICD10:Q12.0|UMLS:C4225389 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene. DOID:0110259|http://identifiers.org/omim/616279|UMLS:C4225389 http://purl.obolibrary.org/obo/MONDO_0014565 cataract 43|early-onset non-syndromic cataract caused by mutation in UNC45B|UNC45B early-onset non-syndromic cataract|cataract 43; CTRCT43|CTRCT43|cataract type 43 MONDO:0014564 congenital bile acid synthesis defect 5 biolink:Disease mondo DOID:0111066|OMIM:616278 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene. http://identifiers.org/omim/616278|DOID:0111066 http://purl.obolibrary.org/obo/MONDO_0014564 CBAS5|ABCD3 congenital bile acid synthesis defect|congenital bile acid synthesis defect caused by mutation in ABCD3|bile acid synthesis defect, congenital, 5; CBAS5|bile acid synthesis defect, congenital, 5|bile acid synthesis defect, congenital, type 5|congenital bile acid synthesis defect type 5 CL:0001059 common myeloid progenitor, CD34-positive biolink:Cell mondo A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/CL_0001059 common myeloid precursor, CD34-positive|multipotential myeloid stem cell|myeloid stem cell|CMP|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|CFU-GEMM|CFU-S|pluripotent stem cell (bone marrow) CHEBI:38925 benzopteridine biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38925 benzopteridines MONDO:0014569 lethal congenital contracture syndrome 7 biolink:Disease mondo UMLS:C4225386|OMIM:616286 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene. UMLS:C4225386|http://identifiers.org/omim/616286 http://purl.obolibrary.org/obo/MONDO_0014569 LCCS7|CNTNAP1 lethal congenital contracture syndrome|lethal congenital contracture syndrome type 7|lethal congenital contracture syndrome 7|lethal congenital contracture syndrome 7; LCCS7|lethal congenital contracture syndrome caused by mutation in CNTNAP1 MONDO:0014568 hereditary spastic paraplegia 73 biolink:Disease mondo OMIM:616282|ICD10:G11.4|UMLS:C4225387|DOID:0110818|Orphanet:444099 Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. UMLS:C4225387|DOID:0110818|http://identifiers.org/omim/616282|ORPHA:444099 http://purl.obolibrary.org/obo/MONDO_0014568 autosomal dominant spastic paraplegia 73|SPG73|autosomal dominant spastic paraplegia type 73|hereditary spastic paraplegia type 73|spastic paraplegia 73, autosomal dominant|spastic paraplegia 73, autosomal dominant; SPG73|CPT1C autosomal dominant pure spastic paraplegia|autosomal dominant pure spastic paraplegia caused by mutation in CPT1C ordo_disease HGNC:13586 FBXO7 biolink:OntologyClass mondo http://identifiers.org/hgnc/13586 MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency biolink:Disease mondo OMIM:616277|UMLS:C4225391|GARD:0013019 http://identifiers.org/omim/616277|UMLS:C4225391 http://purl.obolibrary.org/obo/MONDO_0014563 ECHS1D|short-chain enoyl-CoA hydratase deficiency|mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency; ECHS1D|mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome biolink:Disease mondo OMIM:616276|UMLS:C4225392|Orphanet:457185|DOID:0070244 ORPHA:457185|http://identifiers.org/omim/616276|DOID:0070244|UMLS:C4225392 http://purl.obolibrary.org/obo/MONDO_0014562 coenzyme Q10 deficiency, primary, type 7|coenzyme Q10 deficiency, primary, 7|COQ10D7|COQ4-related neonatal encephalomyopathy|coenzyme Q10 deficiency, primary, 7; COQ10D7|primary coenzyme Q10 deficiency 7 ordo_disease GO:2000181 negative regulation of blood vessel morphogenesis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel morphogenesis. http://purl.obolibrary.org/obo/GO_2000181 CHEBI:26948 thiamine biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26948 thiamines MONDO:0014561 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia biolink:Disease mondo Orphanet:445038|UMLS:C4225393|DOID:0110003|EFO:0009014|SCTID:764860006|ICD10:E71.1|OMIM:616271 Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene. ORPHA:445038|http://identifiers.org/omim/616271|SNOMEDCT:764860006|DOID:0110003|UMLS:C4225393 http://purl.obolibrary.org/obo/MONDO_0014561 MGA7|3-methylglutaconic aciduria type 7|3-methylglutaconic aciduria type VII|3-methylglutaconic aciduria caused by mutation in CLPB|3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia|MGCA7|3-Methylglutaconic aciduria, type 7|3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|CLPB 3-methylglutaconic aciduria|MEGCANN|3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia; MEGCANN ordo_disease CL:0001053 IgD-negative memory B cell biolink:Cell mondo A memory B cell that lacks expression of surface IgD. http://purl.obolibrary.org/obo/CL_0001053 IgD- memory B cell MONDO:0014560 amelogenesis imperfecta type 1F biolink:Disease mondo OMIM:616270|UMLS:C4225394|ICD10:K00.5|DOID:0110065 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene. http://identifiers.org/omim/616270|UMLS:C4225394|DOID:0110065 http://purl.obolibrary.org/obo/MONDO_0014560 AI1F|amelogenesis imperfecta, type IF; AI1F|amelogenesis imperfecta hypoplastic type IF|amelogenesis imperfecta type IF|amelogenesis imperfecta caused by mutation in AMBN|amelogenesis imperfecta, type IF|AMBN amelogenesis imperfecta|amelogenesis imperfecta, hypoplastic type 1F|amelogenesis imperfecta, type 1F MONDO:0002589 obsolete thymoma type AB biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002589 MONDO:0002585 breast fibrocystic change, proliferative type biolink:Disease mondo DOID:3274|NCIT:C6940|UMLS:C0334056 Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent. NCIT:C6940|UMLS:C0334056|DOID:3274 http://purl.obolibrary.org/obo/MONDO_0002585 proliferative fibrocystic change|fibrocystic disease, proliferative type with atypia|proliferative breast disease|proliferative breast lesion|proliferative type fibrocystic change of breast|proliferative type fibrocystic change of the breast|fibrocystic change, proliferative type with atypia|breast fibrocystic change, proliferative type|benign proliferative breast disease|proliferative fibrocystic change|proliferating lesion of the breast without atypia|proliferating lesion of breast without atypia MONDO:0002586 thymus cancer biolink:Disease mondo DOID:3277|UMLS:C0751552|ICD9:164.0|NCIT:C4962|ICD10:C37|COHD:443380|SCTID:363434003 A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites. UMLS:C0751552|SNOMEDCT:363434003|NCIT:C4962|DOID:3277 http://purl.obolibrary.org/obo/MONDO_0002586 malignant Thymus tumor|malignant neoplasm of the Thymus|thymus cancer|thymic neoplasm|malignant thymus neoplasm|thymic tumor|malignant Thymus neoplasm|neoplasm of thymus|cancer of thymus|cancer of Thymus|cancer of the Thymus|malignant tumor of Thymus|malignant tumor of the Thymus|Thymus cancer|malignant neoplasm of thymus|malignant neoplasm of Thymus MONDO:0002587 encapsulated thymoma biolink:Disease mondo DOID:3278|UMLS:C1333383|NCIT:C7386 A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics. DOID:3278|NCIT:C7386|UMLS:C1333383 http://purl.obolibrary.org/obo/MONDO_0002587 encapsulated thymoma UBERON:0035174 right ear biolink:AnatomicalEntity mondo The organ of hearing located on the right side of the head. http://purl.obolibrary.org/obo/UBERON_0035174 MONDO:0002588 thymoma type A biolink:Disease mondo DOID:3279|ICD10:C37|ICDO:8581/1|UMLS:C1266091|NCIT:C6454|ICD10:D15.0|Orphanet:263310 A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years. DOID:3279|NCIT:C6454|ORPHA:263310|UMLS:C1266091 http://purl.obolibrary.org/obo/MONDO_0002588 spindle cell thymoma|thymoma, medullary|primary thymic epithelial tumor type A|primary thymic epithelial neoplasm type A|medullary thymoma|thymoma type A ordo_histopathological_subtype GO:0051926 negative regulation of calcium ion transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051926 down regulation of calcium ion transport|inhibition of calcium ion transport|downregulation of calcium ion transport|negative regulation of calcium transport|down-regulation of calcium ion transport UBERON:0035177 abdominal part of esophagus biolink:AnatomicalEntity mondo Clinical esophageal segment composed of smooth muscle. It corresponds to the inferior part of the lower third topographic segment of the esophagus. http://purl.obolibrary.org/obo/UBERON_0035177 abdominal part of oesophagus|t11 segment of esophagus|pars abdominalis (oesophagus)|pars abdominalis oesophageae|T11 part of esophagus|abdominal esophagus MONDO:0002581 spindle cell rhabdomyosarcoma biolink:Disease mondo SCTID:404055006|DOID:3260|NCIT:C6519|ICD9:171.9|ONCOTREE:SCRMS|ICDO:8912/3|UMLS:C1266134 An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. NCIT:C6519|UMLS:C1266134|SNOMEDCT:404055006|DOID:3260 http://purl.obolibrary.org/obo/MONDO_0002581 spindle cell rhabdomyosarcoma (morphologic abnormality)|SCRMS MONDO:0002582 subacute leukemia biolink:Disease mondo DOID:3264|ICD9:208.20|ICD9:208.2|SCTID:302855005|UMLS:C0153924 A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. SNOMEDCT:302855005|UMLS:C0153924|DOID:3264 http://purl.obolibrary.org/obo/MONDO_0002582 MONDO:0002583 mucinous ovarian cystadenoma biolink:Disease mondo SCTID:119422004|NCIT:C4512|UMLS:C0346172|DOID:3267 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells. NCIT:C4512|UMLS:C0346172|SNOMEDCT:119422004|DOID:3267 http://purl.obolibrary.org/obo/MONDO_0002583 benign mucinous cystadenoma of the ovary|benign mucinous cystadenoma of ovary|ovarian mucinous cystadenoma|mucinous cystadenoma of the ovary|mucinous cystadenoma of ovary|benign ovarian mucinous cystadenoma|ovary mucinous cystadenoma GO:0051924 regulation of calcium ion transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051924 regulation of calcium transport UBERON:0011185 gastrointestinal sphincter biolink:AnatomicalEntity mondo A sphincter muscle that is part of the gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0011185 MONDO:0002584 obsolete syringomyelia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002584 HGNC:25576 NAXD biolink:OntologyClass mondo http://identifiers.org/hgnc/25576 CHEBI:85234 human blood serum metabolite biolink:ChemicalSubstance mondo Any metabolite (endogenous or exogenous) found in human blood serum samples. http://purl.obolibrary.org/obo/CHEBI_85234 human blood serum metabolites GO:0051928 positive regulation of calcium ion transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051928 positive regulation of calcium transport|up-regulation of calcium ion transport|up regulation of calcium ion transport|activation of calcium ion transport|stimulation of calcium ion transport|upregulation of calcium ion transport MONDO:0002580 orbit rhabdomyosarcoma biolink:Disease mondo NCIT:C4543|UMLS:C0346347|MESH:C537605|SCTID:254994000|DOID:3259 A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit. NCIT:C4543|UMLS:C0346347|MESH:C537605|DOID:3259|SNOMEDCT:254994000 http://purl.obolibrary.org/obo/MONDO_0002580 rhabdomyosarcoma of the orbit|rhabdomyosarcoma of orbit|orbital region rhabdomyosarcoma|rhabdomyosarcoma (disease) of orbital region|orbital region rhabdomyosarcoma (disease) UBERON:0011189 lamina propria of large intestine biolink:AnatomicalEntity mondo A lamina propria that is part of a large intestine. http://purl.obolibrary.org/obo/UBERON_0011189 large intestine lamina propria|lamina propria of mucosa of large intestine|large intestinal lamina propria CL:0001066 erythroid progenitor cell, mammalian biolink:Cell mondo BTO:0004911 A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative). http://purl.obolibrary.org/obo/CL_0001066 blast forming unit erythroid|colony forming unit erythroid|erythroid stem cell|burst forming unit erythroid|CFU-E|BFU-E MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay biolink:Disease mondo UMLS:C4225398|OMIM:616266|EFO:1001868 UMLS:C4225398|http://identifiers.org/omim/616266 http://purl.obolibrary.org/obo/MONDO_0014556 CLIFAHDD|congenital contractures of the limbs and face, hypotonia, and developmental delay; CLIFAHDD|congenital contractures of the limbs and face, hypotonia, and developmental delay CL:0001065 innate lymphoid cell biolink:Cell mondo A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. http://purl.obolibrary.org/obo/CL_0001065 MONDO:0014555 peeling skin syndrome type A biolink:Disease mondo ICD10:Q80.8|OMIM:616265|UMLS:C4015729|Orphanet:263548 Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin. UMLS:C4015729|http://identifiers.org/omim/616265|ORPHA:263548 http://purl.obolibrary.org/obo/MONDO_0014555 PSS type A|generalized deciduous skin type A|generalized peeling skin syndrome type A|peeling skin syndrome type 3|non-inflammatory peeling skin syndrome type A|non-inflammatory generalized peeling skin syndrome type A.|peeling skin syndrome 3|peeling skin syndrome 3; PSS3|PSS3 ordo_clinical_subtype MONDO:0014554 infantile multisystem neurologic-endocrine-pancreatic disease biolink:Disease mondo Orphanet:456312|OMIM:616263|UMLS:C4015728 UMLS:C4015728|http://identifiers.org/omim/616263|ORPHA:456312 http://purl.obolibrary.org/obo/MONDO_0014554 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset|neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset; IMNEPD|IMNEPD ordo_disease CL:0001068 ILC1 biolink:Cell mondo A group 1 innate lymphoid cell that is non-cytotoxic. http://purl.obolibrary.org/obo/CL_0001068 CL:0001067 group 1 innate lymphoid cell biolink:Cell mondo An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. http://purl.obolibrary.org/obo/CL_0001067 MONDO:0014553 Tenorio syndrome biolink:Disease mondo UMLS:C4015710|OMIM:616260 UMLS:C4015710|http://identifiers.org/omim/616260 http://purl.obolibrary.org/obo/MONDO_0014553 Tenorio syndrome|overgrowth, macrocephaly, and intellectual disability syndrome|TENORIO syndrome; TNORS|TNORS MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome biolink:Disease mondo OMIM:616269|UMLS:C4225395|Orphanet:457212 UMLS:C4225395|http://identifiers.org/omim/616269|ORPHA:457212 http://purl.obolibrary.org/obo/MONDO_0014559 intellectual disability, autosomal recessive type 48|mental retardation, autosomal recessive type 48|mental retardation, autosomal recessive 48|intellectual disability, autosomal recessive 48|MRT48|intellectual disability, autosomal recessive 48; MRT48|mental retardation, autosomal recessive 48; MRT48 ordo_disease MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome biolink:Disease mondo Orphanet:457193|OMIM:616268|DOID:0070062 ORPHA:457193|http://identifiers.org/omim/616268|DOID:0070062 http://purl.obolibrary.org/obo/MONDO_0014558 intellectual disability, autosomal dominant 32|autosomal dominant mental retardation 32|mental retardation, autosomal dominant 32|autosomal dominant non-syndromic intellectual disability 32|intellectual disability, autosomal dominant type 32|KAT6A Syndrome|MRD32|mental retardation, autosomal dominant type 32|intellectual disability, autosomal dominant 32; MRD32|mental retardation, autosomal dominant 32; MRD32|autosomal dominant intellectual disability 32 ordo_malformation_syndrome MONDO:0014557 ataxia - oculomotor apraxia type 4 biolink:Disease mondo OMIM:616267|UMLS:C4225397|GARD:0013111|EFO:0009016|Orphanet:459033 Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene. UMLS:C4225397|ORPHA:459033|http://identifiers.org/omim/616267 http://purl.obolibrary.org/obo/MONDO_0014557 ataxia-oculomotor apraxia-4|ataxia - oculomotor apraxia type 4|PNKP oculomotor apraxia or related oculomotor disease|AOA4|ataxia-oculomotor apraxia 4|oculomotor apraxia or related oculomotor disease caused by mutation in PNKP|ataxia-oculomotor apraxia 4; AOA4 ordo_disease|gard_rare ECTO:9001021 chlorine atom exposure biolink:OntologyClass mondo An exposure to chlorine atom. http://purl.obolibrary.org/obo/ECTO_9001021 exposure to chlorine atom CL:0001060 hematopoietic oligopotent progenitor cell, lineage-negative biolink:Cell mondo A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/CL_0001060 CHEBI:73263 cyclooxygenase 3 inhibitor biolink:ChemicalSubstance mondo A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 3. http://purl.obolibrary.org/obo/CHEBI_73263 COX-3 inhibitors|cyclooxygenase 3 inhibitors|cyclooxygenase-3 inhibitor|cyclo-oxygenase 3 inhibitor|cyclooxygenase-3 inhibitors|cyclo-oxygenase 3 inhibitors|COX-3 inhibitor MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome biolink:Disease mondo Orphanet:439897|UMLS:C4015701|OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. UMLS:C4015701|http://identifiers.org/omim/616258|ORPHA:439897 http://purl.obolibrary.org/obo/MONDO_0014552 Meckel syndrome 12|MKS12|Meckel syndrome 12; MKS12|Meckel syndrome type 12 ordo_malformation_syndrome MONDO:0014551 short stature with nonspecific skeletal abnormalities biolink:Disease mondo UMLS:C4225399|OMIM:616255 UMLS:C4225399|http://identifiers.org/omim/616255 http://purl.obolibrary.org/obo/MONDO_0014551 short stature with nonspecific skeletal abnormalities; SNSK|short stature with nonspecific skeletal abnormalities|SNSK MONDO:0014550 long QT syndrome 15 biolink:Disease mondo UMLS:C4015695|DOID:0110656|ICD10:I45.8|OMIM:616249 Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene. DOID:0110656|http://identifiers.org/omim/616249|UMLS:C4015695 http://purl.obolibrary.org/obo/MONDO_0014550 long QT syndrome 15; LQT15|LQT15|long QT syndrome caused by mutation in CALM2|CALM2 long QT syndrome|long QT syndrome 15|long QT syndrome type 15 MONDO:0002556 microcystic/reticular schwannoma biolink:Disease mondo UMLS:C4054526|NCIT:C5321 The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue. UMLS:C4054526|NCIT:C5321 http://purl.obolibrary.org/obo/MONDO_0002556 microcystic/reticular schwannoma GO:0051930 regulation of sensory perception of pain biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. http://purl.obolibrary.org/obo/GO_0051930 MONDO:0002557 obsolete schwannomatosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002557 MONDO:0002558 melanotic neurilemmoma biolink:Disease mondo DOID:3205|ICD9:215.8|SCTID:404024000|UMLS:C1306247|NCIT:C6970|ONCOTREE:MSCHW A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients. DOID:3205|SNOMEDCT:404024000|NCIT:C6970|UMLS:C1306247 http://purl.obolibrary.org/obo/MONDO_0002558 melanocytic schwannoma|pigmented schwannoma|melanotic schwannoma (morphologic abnormality)|melanotic schwannoma|MSCHW|pigmented neurilemmoma|melanocytic neurilemmoma|melanotic neurinoma MONDO:0002559 plexiform schwannoma biolink:Disease mondo DOID:3206|NCIT:C6969|ICD9:215.9|SCTID:404025004|UMLS:C1370659 A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck. DOID:3206|SNOMEDCT:404025004|UMLS:C1370659|NCIT:C6969 http://purl.obolibrary.org/obo/MONDO_0002559 plexiform schwannoma (morphologic abnormality)|plexiform neurilemmoma|plexiform neurinoma|plexiform schwannoma MONDO:0002552 vascular myelopathy biolink:Disease mondo UMLS:C0154685|ICD10:G95.1|COHD:136960|SCTID:29774004|ICD9:336.1|DOID:320 DOID:320|UMLS:C0154685|SNOMEDCT:29774004 http://purl.obolibrary.org/obo/MONDO_0002552 vascular myelopathies MONDO:0002553 cerebellopontine angle tumor biolink:Disease mondo SCTID:126947009|DOID:3200|NCIT:C5414 A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma. SNOMEDCT:126947009|DOID:3200|NCIT:C5414 http://purl.obolibrary.org/obo/MONDO_0002553 neoplasm of the C-P angle|neoplasm of C-P angle|tumor of cerebellopontine angle|C-P angle tumor|neoplasm of cerebellar Pontine angle|cerebellar Pontine angle tumor|neoplasm of the cerebellar Pontine angle|tumor of the C-P angle|cerebellopontine angle neoplasm (disease)|neoplasm of the cerebellopontine angle|tumor of C-P angle|cerebellopontine angle neoplasm|cerebellar Pontine angle neoplasm|neoplasm of cerebellopontine angle|cerebellopontine angle tumor|tumor of cerebellar Pontine angle|tumor of the cerebellopontine angle|C-P angle neoplasm|tumor of the cerebellar Pontine angle GO:0051931 regulation of sensory perception biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of sensory perception, the series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. http://purl.obolibrary.org/obo/GO_0051931 UBERON:0011171 joint connecting upper and lower jaws biolink:AnatomicalEntity mondo Synovial joint that articulates bones of upper and lower jaw. http://purl.obolibrary.org/obo/UBERON_0011171 jaw joint|craniomandibular joint MONDO:0002554 sympathetic neurilemmoma biolink:Disease mondo DOID:3201|UMLS:C1336543|NCIT:C5421 A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus. DOID:3201|NCIT:C5421|UMLS:C1336543 http://purl.obolibrary.org/obo/MONDO_0002554 sympathetic schwannoma MONDO:0002555 trigeminal schwannoma biolink:Disease mondo ICD9:215.9|UMLS:C0349582|DOID:3202|NCIT:C4655|SCTID:277185000 A schwannoma that involves the trigeminal nerve. DOID:3202|UMLS:C0349582|SNOMEDCT:277185000|NCIT:C4655 http://purl.obolibrary.org/obo/MONDO_0002555 fifth cranial nerve neurilemmoma|neurilemmoma of the fifth cranial nerve|neurilemmoma of trigeminal nerve|neurilemmoma of fifth cranial nerve|neurilemmoma of the trigeminal nerve|trigeminal nerve schwannoma|fifth cranial nerve schwannoma|schwannoma of trigeminal nerve|schwannoma of the trigeminal nerve|schwannoma of the fifth cranial nerve|schwannoma of fifth cranial nerve|trigeminal neurilemmoma|trigeminal schwannoma GO:0051937 catecholamine transport biolink:OntologyClass mondo The directed movement of catecholamines, a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. http://purl.obolibrary.org/obo/GO_0051937 MONDO:0002550 hypoglossal nerve neoplasm biolink:Disease mondo ICD9:239.7|UMLS:C1263903|DOID:3198|NCIT:C5830|SCTID:126978008 A neoplasm involving a hypoglossal nerve. DOID:3198|UMLS:C1263903|NCIT:C5830|SNOMEDCT:126978008 http://purl.obolibrary.org/obo/MONDO_0002550 hypoglossal nerve neoplasm (disease)|neoplasm of hypoglossal nerve|tumor of the hypoglossal nerve|hypoglossal nerve neoplasm|hypoglossal nerve tumor|XIIth cranial nerve tumors|hypoglossal nerve tumors|twelfth cranial nerve neoplasm|neoplasm of the twelfth cranial nerve|neoplasm of twelfth cranial nerve|twelfth cranial nerve tumors|twelfth cranial nerve tumor|neoplasm of the hypoglossal nerve|twelfth cranial nerve neoplasms|tumor of hypoglossal nerve|tumor of the twelfth cranial nerve|hypoglossal nerve neoplasms|tumor of twelfth cranial nerve|XIIth cranial nerve neoplasms MONDO:0014539 focal segmental glomerulosclerosis 9 biolink:Disease mondo OMIM:616220|UMLS:C4015555|ICD10:N04.1|DOID:0111134 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. DOID:0111134|UMLS:C4015555|http://identifiers.org/omim/616220 http://purl.obolibrary.org/obo/MONDO_0014539 FSGS9|focal segmental glomerulosclerosis 9; FSGS9|glomerulosclerosis, focal segmental, 9|focal segmental glomerulosclerosis 9|focal segmental glomerulosclerosis type 9|focal segmental glomerulosclerosis caused by mutation in CRB2|CRB2 focal segmental glomerulosclerosis MONDO:0002551 c-P angle neurinoma biolink:Disease mondo DOID:3199|UMLS:C1332905|NCIT:C5413 UMLS:C1332905|DOID:3199|NCIT:C5413 http://purl.obolibrary.org/obo/MONDO_0002551 cerebellar Pontine angle neurinoma|cerebellopontine angle neurinoma|cerebellopontine angle schwannoma MONDO:0014545 progressive myoclonic epilepsy type 8 biolink:Disease mondo Orphanet:424027|ICD10:G40.3|OMIM:616230|UMLS:C4015619 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene. UMLS:C4015619|http://identifiers.org/omim/616230|ORPHA:424027 http://purl.obolibrary.org/obo/MONDO_0014545 epilepsy, progressive myoclonic, 8; EPM8|epilepsy, progressive myoclonic, 8|progressive myoclonic epilepsy due to CERS1 deficiency|CERS1 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, type 8|EPM8|PME type 8|progressive myoclonus epilepsy type 8|progressive myoclonic epilepsy caused by mutation in CERS1 ordo_disease MONDO:0014544 osteogenesis imperfecta type 16 biolink:Disease mondo UMLS:C4015610|OMIM:616229|DOID:0110345|ICD10:Q78.0 An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11. UMLS:C4015610|DOID:0110345|http://identifiers.org/omim/616229 http://purl.obolibrary.org/obo/MONDO_0014544 OI16|osteogenesis imperfecta, type XVI; OI16|osteogenesis imperfecta type XVI|chromosome 11P11.2 deletion syndrome, 91.3-Kb|chromosome 11p11.2 deletion syndrome 91.3-KB|osteogenesis imperfecta, type 16|OI, type 16|osteogenesis imperfecta, type XVI MONDO:0014543 congenital myasthenic syndrome 14 biolink:Disease mondo UMLS:C4015597|DOID:0110669|OMIM:616228 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene. UMLS:C4015597|DOID:0110669|http://identifiers.org/omim/616228 http://purl.obolibrary.org/obo/MONDO_0014543 myasthenic syndrome, congenital, type 14|ALG2 congenital myasthenic syndromes with glycosylation defect|congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2|congenital myasthenic syndrome type 14|myasthenic syndrome, congenital, 14|CMSTA3|congenital myasthenic syndrome 14, with tubular aggregates|myasthenic syndrome, congenital, with tubular aggregates 3|congenital myasthenic syndrome with tubular aggregates 3|myasthenic syndrome, congenital, 14; CMS14|CMS14 MONDO:0014542 congenital myasthenic syndrome 15 biolink:Disease mondo DOID:0110658|UMLS:C4015596|OMIM:616227 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene. UMLS:C4015596|DOID:0110658|http://identifiers.org/omim/616227 http://purl.obolibrary.org/obo/MONDO_0014542 myasthenic syndrome, congenital, 15|congenital myasthenic syndrome type 15|ALG14 congenital myasthenic syndrome|congenital myasthenic syndrome 15 without tubular aggregates|congenital myasthenic syndrome caused by mutation in ALG14|myasthenic syndrome, congenital, 15; CMS15|myasthenic syndrome, congenital, type 15|myasthenic syndrome, congenital, without tubular aggregates|CMS15 MONDO:0014549 lethal congenital contracture syndrome 6 biolink:Disease mondo UMLS:C4015686|OMIM:616248 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene. UMLS:C4015686|http://identifiers.org/omim/616248 http://purl.obolibrary.org/obo/MONDO_0014549 lethal congenital contracture syndrome type 6|LCCS6|lethal congenital contracture syndrome 6; LCCS6|lethal congenital contracture syndrome 6|lethal congenital contracture syndrome caused by mutation in ZBTB42|ZBTB42 lethal congenital contracture syndrome MONDO:0014548 long QT syndrome 14 biolink:Disease mondo ICD10:I45.8|OMIM:616247|UMLS:C4015671|DOID:0110655 Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene. UMLS:C4015671|DOID:0110655|http://identifiers.org/omim/616247 http://purl.obolibrary.org/obo/MONDO_0014548 long QT syndrome caused by mutation in CALM1|CALM1 long QT syndrome|long QT syndrome 14|long QT syndrome type 14|LQT14|long QT syndrome 14; LQT14 MONDO:0014547 combined oxidative phosphorylation defect type 24 biolink:Disease mondo UMLS:C4015643|Orphanet:444458|ICD10:G71.3|EFO:0009034|OMIM:616239 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene. UMLS:C4015643|http://identifiers.org/omim/616239|ORPHA:444458 http://purl.obolibrary.org/obo/MONDO_0014547 NARS2 combined oxidative phosphorylation deficiency|COXPD24|combined oxidative phosphorylation deficiency type 24|combined oxidative phosphorylation deficiency caused by mutation in NARS2|combined oxidative phosphorylation deficiency 24|combined oxidative phosphorylation deficiency 24; COXPD24 ordo_disease MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload biolink:Disease mondo SCTID:724095006|Orphanet:88635|ICD10:G71.8|OMIM:616231|UMLS:C4510368|UMLS:C4015624 Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. UMLS:C4015624|http://identifiers.org/omim/616231|UMLS:C4510368|SNOMEDCT:724095006|ORPHA:88635 http://purl.obolibrary.org/obo/MONDO_0014546 myopathy, vacuolar, with CASQ1 aggregates; VMCQA|myopathy, vacuolar, with CASQ1 aggregates|VMCQA ordo_disease MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect biolink:Disease mondo NCIT:C120409|OMIM:616222|UMLS:C4015558|Orphanet:254516 A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. UMLS:C4015558|NCIT:C120409|ORPHA:254516|http://identifiers.org/omim/616222 http://purl.obolibrary.org/obo/MONDO_0014541 mUPD14 syndrome|uniparental disomy, maternal, chromosome 14|maternal uniparental disomy chromosome 14 syndrome|TEMPLE syndrome ordo_malformation_syndrome MONDO:0002549 schwannoma of twelfth cranial nerve biolink:Disease mondo NCIT:C5434|UMLS:C1335928|DOID:3197 A schwannoma that involves the hypoglossal nerve. UMLS:C1335928|DOID:3197|NCIT:C5434 http://purl.obolibrary.org/obo/MONDO_0002549 schwannoma of the twelfth cranial nerve|hypoglossal nerve schwannoma|schwannoma of twelfth cranial nerve|schwannoma of the hypoglossal nerve|hypoglossal nerve neurilemmoma|schwannoma of hypoglossal nerve|neurilemmoma of the twelfth cranial nerve|hypoglossal schwannoma|neurilemmoma of twelfth cranial nerve|twelfth cranial nerve neurilemmoma|neurilemmoma of the hypoglossal nerve|neurilemmoma of hypoglossal nerve|hypoglossal neurilemmoma|twelfth cranial nerve schwannoma NCBITaxon:552467 Cryptococcus gattii VGIII organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_552467 Filobasidiella neoformans var. bacillispora|Filobasidiella bacillispora|Cryptococcus bacillisporus|Cryptococcus bacillisporus VGIII MONDO:0014540 amelogenesis imperfecta type 1H biolink:Disease mondo ICD10:K00.5|DOID:0110064|UMLS:C4015557|OMIM:616221 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene. UMLS:C4015557|DOID:0110064|http://identifiers.org/omim/616221 http://purl.obolibrary.org/obo/MONDO_0014540 amelogenesis imperfecta, type IH|amelogenesis imperfecta, type 1H|amelogenesis imperfecta type IH|amelogenesis imperfecta, type IH; AI1H|ITGB6 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in ITGB6|AI1H SO:0000578 snoRNA_encoding biolink:SequenceFeature mondo A region that can be transcribed into a small nucleolar RNA (snoRNA). http://purl.obolibrary.org/obo/SO_0000578 snoRNA encoding CL:0001030 CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0001030 MONDO:0002567 tracheal disease biolink:Disease mondo SCTID:47125007|DOID:3225|UMLS:C0040580|ICD10:S12.8|NCIT:C35079|MESH:D014133 A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. SNOMEDCT:47125007|DOID:3225|UMLS:C0040580|MESH:D014133|NCIT:C35079 http://purl.obolibrary.org/obo/MONDO_0002567 disease or disorder of trachea|disease of trachea|trachea disease or disorder|disorder of trachea|trachea disease|tracheal disorder|disorder of trachea CHEBI:26932 tetrapyrrole biolink:ChemicalSubstance mondo A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/CHEBI_26932 a tetrapyrrole|tetrapyrroles|tetrapyrrole NCBITaxon:12663 Feline coronavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12663 Feline enteric coronavirus FECV|FECV|Feline enteric coronavirus MONDO:0002568 tracheal stenosis biolink:Disease mondo DOID:3227|ICD9:519.19|UMLS:C0040583|MESH:D014135|SCTID:11296007 Narrowing of the lumen of the trachea. SNOMEDCT:11296007|DOID:3227|UMLS:C0040583|MESH:D014135|NCIT:C78646 http://purl.obolibrary.org/obo/MONDO_0002568 stenosis of trachea SO:0000571 miRNA_encoding biolink:SequenceFeature mondo A region that can be transcribed into a microRNA (miRNA). http://purl.obolibrary.org/obo/SO_0000571 miRNA encoding HGNC:25557 PRMT7 biolink:OntologyClass mondo http://identifiers.org/hgnc/25557 MONDO:0002569 gastric dilatation biolink:Disease mondo UMLS:C0038353|MESH:D013271|DOID:3229 Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation. MESH:D013271|UMLS:C0038353|DOID:3229 http://purl.obolibrary.org/obo/MONDO_0002569 stomach dilatation MONDO:0002563 jejunal somatostatinoma biolink:Disease mondo NCIT:C5787|UMLS:C1334297|DOID:3216 A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures. DOID:3216|NCIT:C5787|UMLS:C1334297 http://purl.obolibrary.org/obo/MONDO_0002563 Somatosatinoma of the jejunum|Somatosatinoma of jejunum|jejunal somatostatin-producing neuroendocrine tumor|Delta cell tumor of the jejunum|jejunal somatostatin-producing NET|Delta cell tumor of jejunum|jejunal somatostatin producing tumor|jejunal delta cell somatostatin producing tumor MONDO:0002564 jejunal neoplasm biolink:Disease mondo MESH:D007580|NCIT:C8401|UMLS:C0022374|SCTID:126834003|DOID:3218 A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma. NCIT:C8401|DOID:3218|MESH:D007580|UMLS:C0022374|SNOMEDCT:126834003 http://purl.obolibrary.org/obo/MONDO_0002564 jejunal tumor|jejunum tumor|jejunum neoplasm (disease)|neoplasm of the jejunum|tumor of jejunum|jejunum neoplasm|tumor of the jejunum|neoplasm of jejunum MONDO:0002565 myelitis biolink:Disease mondo ICD9:323.9|COHD:138965|EFO:1001472|DOID:322|MESH:D009187|SCTID:41370002|NCIT:C26832|GARD:0007130|UMLS:C0026975 An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence. DOID:322|UMLS:C0026975|SNOMEDCT:41370002|NCIT:C26832|MESH:D009187 http://purl.obolibrary.org/obo/MONDO_0002565 spinal cord inflammation|inflammation of spinal cord gard_rare NCBITaxon:2697049 Severe acute respiratory syndrome coronavirus 2 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2697049 SARS-CoV-2|COVID-19|COVID-19 virus|COVID19|Wuhan seafood market pneumonia virus|Wuhan coronavirus|Human coronavirus 2019|SARS-CoV2|SARS-2|SARS2|2019-nCoV|HCoV-19 MONDO:0002566 obsolete complex regional pain syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002566 UBERON:0011166 patellofemoral joint biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011166 femorapatellar joint|femoropatellar joint|patello femoral joint MONDO:0002560 obsolete junctional epidermolysis bullosa biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002560 UBERON:0035198 superficial lymphatic vessel biolink:AnatomicalEntity mondo The tubules that carry lymph throughout the body that are just beneath the surface of the skin. http://purl.obolibrary.org/obo/UBERON_0035198 superficial lymph vessel MONDO:0002561 lysosomal storage disease biolink:Disease mondo UMLS:CN205533|DOID:3211|SCTID:23585005|Orphanet:68366|NCIT:C61250|MESH:D016464|UMLS:C0085078 A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. ORPHA:68366|DOID:3211|NCIT:C61250|UMLS:CN205533|SNOMEDCT:23585005|MESH:D016464|UMLS:C0085078 http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal disorder|lysosomal storage disorder|lysosome disease|inborn lysosomal enzyme disorder|disorder of lysosomal enzymes|phospholipidosis|disorder of lysosomal enzyme|lysosomal storage metabolism disorder|lysosome disorder|lysosomal disease ordo_group_of_disorders MONDO:0014529 cerebellar-facial-dental syndrome biolink:Disease mondo UMLS:CN221667|Orphanet:444072|EFO:0009030|OMIM:616202|ICD10:Q87.0|UMLS:C4015495 UMLS:CN221667|UMLS:C4015495|http://identifiers.org/omim/616202|ORPHA:444072 http://purl.obolibrary.org/obo/MONDO_0014529 CFDS|cerebellar-facial-dental syndrome|Cerebellofaciodental syndrome|CEREBELLOFACIODENTAL syndrome|CEREBELLOFACIODENTAL syndrome; CFDS ordo_malformation_syndrome UBERON:0011164 neurocranium bone biolink:AnatomicalEntity mondo A bone that is part of a neurocranium [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0011164 chondrocranium bone MONDO:0014528 chronic atrial and intestinal dysrhythmia biolink:Disease mondo OMIM:616201|GARD:0012281|DOID:0060339|Orphanet:435988|UMLS:C4015474|SCTID:720507006|ICD10:K59.8 A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). UMLS:C4015474|DOID:0060339|ORPHA:435988|http://identifiers.org/omim/616201|SNOMEDCT:720507006 http://purl.obolibrary.org/obo/MONDO_0014528 chronic atrial and intestinal dysrhythmia; caid|Cohesinopathy affecting heart and gut rhythm|caid syndrome|caid|chronic atrial intestinal dysrhythmia syndrome|chronic atrial dysrhythmia-intestinal motility disorder|chronic atrial and intestinal dysrhythmia syndrome|chronic atrial and intestinal dysrhythmia ordo_disease MONDO:0002562 demyelinating disease biolink:Disease mondo DOID:3213|ICD10:G35.G37|NCIT:C34527|MESH:D003711|UMLS:C0011303 A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. NCIT:C34527|DOID:3213|UMLS:C0011303|MESH:D003711 http://purl.obolibrary.org/obo/MONDO_0002562 demyelinating disorder MONDO:0014534 lissencephaly 6 with microcephaly biolink:Disease mondo OMIM:616212 Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene. http://identifiers.org/omim/616212 http://purl.obolibrary.org/obo/MONDO_0014534 LIS6|lissencephaly 6 with microcephaly; LIS6|Microlissencephaly caused by mutation in KATNB1|microlissencephaly caused by mutation in KATNB1|KATNB1 microlissencephaly|KATNB1 Microlissencephaly|lissencephaly 6 with microcephaly MONDO:0014533 developmental and epileptic encephalopathy, 28 biolink:Disease mondo UMLS:C4015519|OMIM:616211 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene. UMLS:C4015519|http://identifiers.org/omim/616211 http://purl.obolibrary.org/obo/MONDO_0014533 epileptic encephalopathy, early infantile, 28|DEE28|epileptic encephalopathy, early infantile, type 28|early infantile epileptic encephalopathy caused by mutation in WWOX|WWOX early infantile epileptic encephalopathy|EIEE28|epileptic encephalopathy, early infantile, 28; EIEE28 MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance biolink:Disease mondo Orphanet:457050|OMIM:616209|ICD10:G71.3|UMLS:C4015513 UMLS:C4015513|http://identifiers.org/omim/616209|ORPHA:457050 http://purl.obolibrary.org/obo/MONDO_0014532 myopathy, isolated mitochondrial, autosomal dominant|myopathy, isolated mitochondrial, autosomal dominant; IMMD|IMMD ordo_disease MONDO:0014531 amyotrohpic lateral sclerosis type 22 biolink:Disease mondo UMLS:C4015512|DOID:0060355|OMIM:616208 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene. UMLS:C4015512|DOID:0060355|http://identifiers.org/omim/616208 http://purl.obolibrary.org/obo/MONDO_0014531 amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia|ALS22|amyotrophic lateral sclerosis 22|amyotrophic lateral sclerosis type 22|TUBA4A amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 22 with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in TUBA4A|ALS 22|amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; ALS22 MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 biolink:Disease mondo OMIM:616219|UMLS:C4015552 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene. UMLS:C4015552|http://identifiers.org/omim/616219 http://purl.obolibrary.org/obo/MONDO_0014538 fibrosis of extraocular muscles, congenital, 5; CFEOM5|congenital fibrosis of extraocular muscles caused by mutation in COL25A1|COL25A1 congenital fibrosis of extraocular muscles|CFEOM5|fibrosis of extraocular muscles, congenital, type 5|fibrosis of extraocular muscles, congenital, 5 MONDO:0014537 nephronophthisis 19 biolink:Disease mondo UMLS:C4015542|OMIM:616217|DOID:0111126 Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. DOID:0111126|UMLS:C4015542|http://identifiers.org/omim/616217 http://purl.obolibrary.org/obo/MONDO_0014537 NPHP19|nephronophthisis 19|DCDC2 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in DCDC2|nephronophthisis 19; NPHP19|nephronophthisis type 19 MONDO:0014536 thrombocytopenia 5 biolink:Disease mondo OMIM:616216|UMLS:C4015537 Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene. UMLS:C4015537|http://identifiers.org/omim/616216 http://purl.obolibrary.org/obo/MONDO_0014536 ETV6 thrombocytopenia|thrombocytopenia 5|thrombocytopenia caused by mutation in ETV6|thrombocytopenia 5; THC5|thrombocytopenia, autosomal dominant, 5|THC5|thrombocytopenia type 5|thrombocytopenia 5 with increased susceptibility to malignancy MONDO:0014535 hyperproinsulinemia biolink:Disease mondo MESH:C562776|SCTID:237613005|ICD9:250.80|OMIM:616214|UMLS:C0342283 UMLS:C0342283|SNOMEDCT:237613005|http://identifiers.org/omim/616214|MESH:C562776 http://purl.obolibrary.org/obo/MONDO_0014535 hyperproinsulinemia MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 biolink:Disease mondo OMIM:616204|Orphanet:363432|DOID:0080042|ICD10:G11.1|UMLS:C4015505 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected. ORPHA:363432|UMLS:C4015505|http://identifiers.org/omim/616204|DOID:0080042 http://purl.obolibrary.org/obo/MONDO_0014530 GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|spinocerebellar ataxia, autosomal recessive type 18|autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2|spinocerebellar ataxia, autosomal recessive 18; SCAR18|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2|autosomal recessive spinocerebellar ataxia type 18|spinocerebellar ataxia, autosomal recessive 18|autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency|SCAR18|GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome ordo_clinical_subtype GO:0051952 regulation of amine transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051952 GO:1903708 positive regulation of hemopoiesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/GO_1903708 up-regulation of blood cell biosynthesis|up-regulation of blood cell formation|up regulation of hematopoiesis|positive regulation of haemopoiesis|up-regulation of hemopoiesis|activation of blood cell formation|positive regulation of hematopoiesis|up regulation of blood cell biosynthesis|up regulation of haemopoiesis|activation of hematopoiesis|up regulation of hemopoiesis|activation of blood cell biosynthesis|positive regulation of blood cell biosynthesis|activation of hemopoiesis|up-regulation of haemopoiesis|upregulation of hematopoiesis|activation of haemopoiesis|upregulation of blood cell formation|upregulation of blood cell biosynthesis|upregulation of hemopoiesis|positive regulation of blood cell formation|upregulation of haemopoiesis|up regulation of blood cell formation|up-regulation of hematopoiesis HGNC:25523 CCDC88A biolink:OntologyClass mondo http://identifiers.org/hgnc/25523 GO:1903707 negative regulation of hemopoiesis biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/GO_1903707 inhibition of hemopoiesis|downregulation of blood cell biosynthesis|downregulation of hemopoiesis|downregulation of blood cell formation|down regulation of blood cell formation|downregulation of haemopoiesis|inhibition of blood cell formation|negative regulation of hematopoiesis|down-regulation of hematopoiesis|down-regulation of blood cell formation|negative regulation of blood cell formation|down-regulation of blood cell biosynthesis|negative regulation of blood cell biosynthesis|down-regulation of hemopoiesis|down regulation of haemopoiesis|down regulation of hematopoiesis|inhibition of haemopoiesis|down regulation of blood cell biosynthesis|down-regulation of haemopoiesis|inhibition of hematopoiesis|down regulation of hemopoiesis|negative regulation of haemopoiesis|downregulation of hematopoiesis|inhibition of blood cell biosynthesis HGNC:25522 WRAP53 biolink:OntologyClass mondo http://identifiers.org/hgnc/25522 GO:1903706 regulation of hemopoiesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/GO_1903706 regulation of blood cell formation|regulation of haemopoiesis|regulation of hematopoiesis|regulation of blood cell biosynthesis GO:0051955 regulation of amino acid transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051955 GO:0051956 negative regulation of amino acid transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051956 down-regulation of amino acid transport|negative regulation of amino acid transmembrane transport|downregulation of amino acid transport|down regulation of amino acid transport|inhibition of amino acid transport GO:0051953 negative regulation of amine transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051953 down-regulation of amine transport|down regulation of amine transport|downregulation of amine transport|inhibition of amine transport GO:0051954 positive regulation of amine transport biolink:OntologyClass mondo Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051954 up regulation of amine transport|activation of amine transport|stimulation of amine transport|upregulation of amine transport|up-regulation of amine transport GO:0051957 positive regulation of amino acid transport biolink:OntologyClass mondo Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051957 upregulation of amino acid transport|up regulation of amino acid transport|stimulation of amino acid transport|positive regulation of amino acid transmembrane transport|up-regulation of amino acid transport|activation of amino acid transport UBERON:0035128 manus cartilage element biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035128 hand cartilage condensation UBERON:0035127 suture of hard palate biolink:AnatomicalEntity mondo Any of the sutures of the hard palate http://purl.obolibrary.org/obo/UBERON_0035127 palatine suture UBERON:0035118 material entity in digestive tract biolink:AnatomicalEntity mondo Any material entity that is located in the digestive tract. This includes undigested food and liquid as well as unexcreted waste products. It also includes other entities such as ingested stones used to aid digestion. Any microbial cells or cell populations are also included. http://purl.obolibrary.org/obo/UBERON_0035118 digestive tract contents|ingested material entity CL:0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0001012 GO:2000145 regulation of cell motility biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/GO_2000145 regulation of cell movement|regulation of cell locomotion|regulation of movement of a cell GO:2000146 negative regulation of cell motility biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/GO_2000146 negative regulation of movement of a cell|negative regulation of cell locomotion|negative regulation of cell movement GO:2000147 positive regulation of cell motility biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell locomotion|positive regulation of movement of a cell|positive regulation of cell movement HGNC:25519 ANO10 biolink:OntologyClass mondo http://identifiers.org/hgnc/25519 GO:0051962 positive regulation of nervous system development biolink:OntologyClass mondo Any process that activates, maintains or increases the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. http://purl.obolibrary.org/obo/GO_0051962 up regulation of nervous system development|stimulation of nervous system development|up-regulation of nervous system development|activation of nervous system development|upregulation of nervous system development NCBITaxon:10066 Muridae organism taxon mondo PMID:15371245|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10066 HGNC:25535 TMEM38B biolink:OntologyClass mondo http://identifiers.org/hgnc/25535 GO:0051960 regulation of nervous system development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. http://purl.obolibrary.org/obo/GO_0051960 GO:0051961 negative regulation of nervous system development biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. http://purl.obolibrary.org/obo/GO_0051961 downregulation of nervous system development|down regulation of nervous system development|inhibition of nervous system development|down-regulation of nervous system development UBERON:0035131 auditory ossicle cartilage element biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035131 ossicle cartilage condensation GO:1903715 regulation of aerobic respiration biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of aerobic respiration. http://purl.obolibrary.org/obo/GO_1903715 HGNC:25538 DARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25538 UBERON:0035130 auditory ossicle endochondral element biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035130 auditory skeletal element|ossicle element of ear|middle ear ossicle element|ossicular chain element|middle ear skeletal element|ossicle element|ear ossicles element|ossicle element of inner ear|ear ossicle element UBERON:0035132 auditory ossicle pre-cartilage element biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035132 ossicle pre-cartilage condensation GO:0051969 regulation of transmission of nerve impulse biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. http://purl.obolibrary.org/obo/GO_0051969 regulation of conduction of nerve impulse HGNC:25532 MTPAP biolink:OntologyClass mondo http://identifiers.org/hgnc/25532 CL:0001021 CD34-positive, CD38-positive common lymphoid progenitor biolink:Cell mondo A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. http://purl.obolibrary.org/obo/CL_0001021 CD10-positive common lymphocyte progenitor|CD10-positive common lymphoid precursor|CD10-positive common lymphocyte precursor MONDO:0014599 intellectual disability, autosomal dominant 34 biolink:Disease mondo DOID:0070064|OMIM:616351 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene. http://identifiers.org/omim/616351|DOID:0070064 http://purl.obolibrary.org/obo/MONDO_0014599 MRD34|intellectual disability, autosomal dominant 34|autosomal dominant mental retardation 34|mental retardation, autosomal dominant type 34|COL4A3BP autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 34|autosomal dominant intellectual disability 34|mental retardation, autosomal dominant 34; MRD34|autosomal dominant non-syndromic intellectual disability 34|autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP|mental retardation, autosomal dominant 34|intellectual disability, autosomal dominant 34; MRD34 UBERON:0035129 pes cartilage element biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035129 foot cartilage condensation MONDO:0014598 developmental and epileptic encephalopathy, 31 biolink:Disease mondo UMLS:C4225357|OMIM:616346 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene. http://identifiers.org/omim/616346|UMLS:C4225357 http://purl.obolibrary.org/obo/MONDO_0014598 EIEE31|epileptic encephalopathy, early infantile, 31|epileptic encephalopathy, early infantile, type 31|early infantile epileptic encephalopathy caused by mutation in DNM1|epileptic encephalopathy, early infantile, 31; EIEE31|DNM1 early infantile epileptic encephalopathy|DEE31 CL:0001024 CD34-positive, CD38-negative hematopoietic stem cell biolink:Cell mondo CALOHA:TS-0448|FMA:86475 CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. http://purl.obolibrary.org/obo/CL_0001024 CD133-positive hematopoietic stem cell MONDO:0014597 immunodeficiency 39 biolink:Disease mondo UMLS:C4225358|OMIM:616345 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene. http://identifiers.org/omim/616345|UMLS:C4225358 http://purl.obolibrary.org/obo/MONDO_0014597 IMD39|immunodeficiency type 39|primary immunodeficiency disease caused by mutation in IRF7|IRF7 primary immunodeficiency disease|immunodeficiency 39; IMD39|immunodeficiency 39 CL:0001023 Kit-positive, CD34-positive common myeloid progenitor biolink:Cell mondo A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low. http://purl.obolibrary.org/obo/CL_0001023 CD117-positive common myeloid precursor CL:0001026 CD34-positive, CD38-positive common myeloid progenitor biolink:Cell mondo A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. http://purl.obolibrary.org/obo/CL_0001026 CD71-positive common myeloid precursor GO:2000155 positive regulation of cilium-dependent cell motility biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cilium-dependent cell motility. http://purl.obolibrary.org/obo/GO_2000155 positive regulation of ciliary cell motility CL:0001025 Kit-positive, Sca1-positive common lymphoid progenitor biolink:Cell mondo A common lymphoid progenitor that is Kit-low, FLT3-positive, IL7ralpha-positive, and SCA1-low. http://purl.obolibrary.org/obo/CL_0001025 CD217-positive common lymphoid precursor|CD217-positive common lymphocyte progenitor|CD217-positive common lymphocyte precursor CL:0001028 CD7-positive lymphoid progenitor cell biolink:Cell mondo CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative. http://purl.obolibrary.org/obo/CL_0001028 CD7-positive lymphoid precursor HGNC:13556 IFT122 biolink:OntologyClass mondo http://identifiers.org/hgnc/13556 CL:0001027 CD7-negative lymphoid progenitor cell biolink:Cell mondo CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. http://purl.obolibrary.org/obo/CL_0001027 CD7-negative lymphoid precursor MONDO:0014592 microcephaly and chorioretinopathy 3 biolink:Disease mondo OMIM:616335|DOID:0080107|UMLS:C4225362 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene. DOID:0080107|UMLS:C4225362|http://identifiers.org/omim/616335 http://purl.obolibrary.org/obo/MONDO_0014592 microcephaly and chorioretinopathy type 3|microcephaly and chorioretinopathy, autosomal recessive, 3; MCCRP3|TUBGCP4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy, autosomal recessive, 3|microcephaly and chorioretinopathy caused by mutation in TUBGCP4|microcephaly and chorioretinopathy, autosomal recessive, type 3|MCCRP3 MONDO:0014591 autosomal dominant Robinow syndrome 2 biolink:Disease mondo DOID:0060765|OMIM:616331|ICD10:Q87.1|UMLS:C4225363 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene. UMLS:C4225363|http://identifiers.org/omim/616331|DOID:0060765 http://purl.obolibrary.org/obo/MONDO_0014591 autosomal dominant Robinow syndrome caused by mutation in DVL1|Robinow syndrome, autosomal dominant 2|DRS2|DVL1 autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant type 2|Robinow syndrome, autosomal dominant 2; DRS2|autosomal dominant Robinow syndrome type 2 MONDO:0014590 congenital myasthenic syndrome 18 biolink:Disease mondo DOID:0110683|OMIM:616330|UMLS:C4225364 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene. UMLS:C4225364|DOID:0110683|http://identifiers.org/omim/616330 http://purl.obolibrary.org/obo/MONDO_0014590 CMS18|myasthenic syndrome, congenital, 18, with intellectual disability and ataxia|congenital myasthenic syndrome caused by mutation in SNAP25|SNAP25 congenital myasthenic syndrome|myasthenic syndrome, congenital, type 18|myasthenic syndrome, congenital, 18; CMS18|congenital myasthenic syndrome type 18|myasthenic syndrome, congenital, 18 MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia biolink:Disease mondo OMIM:616342|UMLS:C4225359 UMLS:C4225359|http://identifiers.org/omim/616342 http://purl.obolibrary.org/obo/MONDO_0014596 lissencephaly 7 with cerebellar hypoplasia; LIS7|LIS7|lissencephaly 7 with cerebellar hypoplasia MONDO:0014595 developmental and epileptic encephalopathy, 30 biolink:Disease mondo UMLS:C4225360|OMIM:616341 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene. UMLS:C4225360|http://identifiers.org/omim/616341 http://purl.obolibrary.org/obo/MONDO_0014595 epileptic encephalopathy, early infantile, 30; EIEE30|DEE30|early infantile epileptic encephalopathy caused by mutation in SIK1|EIEE30|SIK1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 30|epileptic encephalopathy, early infantile, type 30 MONDO:0014594 autosomal dominant nonsyndromic deafness 67 biolink:Disease mondo OMIM:616340|ICD10:H90.3|UMLS:C4084712|DOID:0110588 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene. DOID:0110588|UMLS:C4084712|http://identifiers.org/omim/616340 http://purl.obolibrary.org/obo/MONDO_0014594 deafness, autosomal dominant 67|deafness, autosomal dominant 67; DFNA67|autosomal dominant deafness 67|autosomal dominant nonsyndromic deafness type 67|deafness, autosomal dominant type 67|OSBPL2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2|DFNA67 GO:0036385 nucleoid DNA packaging biolink:OntologyClass mondo Any process in which DNA and associated proteins are formed into a compact, orderly structure within a nucleoid. http://purl.obolibrary.org/obo/GO_0036385 MONDO:0014593 developmental and epileptic encephalopathy, 29 biolink:Disease mondo OMIM:616339|UMLS:C4225361 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene. UMLS:C4225361|http://identifiers.org/omim/616339 http://purl.obolibrary.org/obo/MONDO_0014593 EIEE29|epileptic encephalopathy, early infantile, 29; EIEE29|epileptic encephalopathy, early infantile, 29|epileptic encephalopathy, early infantile, type 29|DEE29|AARS early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in AARS GO:0051971 positive regulation of transmission of nerve impulse biolink:OntologyClass mondo Any process that activates, maintains or increases the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. http://purl.obolibrary.org/obo/GO_0051971 up-regulation of transmission of nerve impulse|up regulation of transmission of nerve impulse|activation of transmission of nerve impulse|positive regulation of conduction of nerve impulse|stimulation of transmission of nerve impulse|upregulation of transmission of nerve impulse GO:1903729 regulation of plasma membrane organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of plasma membrane organization. http://purl.obolibrary.org/obo/GO_1903729 regulation of plasma membrane organisation|regulation of plasma membrane organization and biogenesis MONDO:0002596 obsolete chordoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002596 HGNC:25507 VAC14 biolink:OntologyClass mondo http://identifiers.org/hgnc/25507 MONDO:0002597 notochordal tumor biolink:Disease mondo DOID:3303|UMLS:C1335069|NCIT:C7063 A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor. UMLS:C1335069|NCIT:C7063|DOID:3303 http://purl.obolibrary.org/obo/MONDO_0002597 notochordal cancer|tumor of notochord|malignant neoplasm of notochord|notochord neoplasm|notochord cancer|neoplasm of notochord|malignant notochord neoplasm|notochord tumor|cancer of notochord|notochordal neoplasm|notochordal tumor GO:1903727 positive regulation of phospholipid metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of phospholipid metabolic process. http://purl.obolibrary.org/obo/GO_1903727 up-regulation of phospholipid metabolic process|activation of phospholipid metabolic process|upregulation of phospholipid metabolism|upregulation of phospholipid metabolic process|up-regulation of phospholipid metabolism|up regulation of phospholipid metabolic process|up regulation of phospholipid metabolism|activation of phospholipid metabolism|positive regulation of phospholipid metabolism GO:1903726 negative regulation of phospholipid metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of phospholipid metabolic process. http://purl.obolibrary.org/obo/GO_1903726 downregulation of phospholipid metabolic process|down-regulation of phospholipid metabolism|negative regulation of phospholipid metabolism|down regulation of phospholipid metabolic process|inhibition of phospholipid metabolic process|down regulation of phospholipid metabolism|down-regulation of phospholipid metabolic process|inhibition of phospholipid metabolism|downregulation of phospholipid metabolism MONDO:0002598 germinoma (disease) biolink:Disease mondo NCIT:C3753|UMLS:C0206660|HP:0100620|MESH:D018237|ICDO:9064/3|DOID:3304|ONCOTREE:GMN A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes. MESH:D018237|NCIT:C3753|DOID:3304|UMLS:C0206660 http://purl.obolibrary.org/obo/MONDO_0002598 germinoma MONDO:0002599 teratocarcinoma biolink:Disease mondo UMLS:C0206664|ICDO:9081/3|MESH:D018243|DOID:3305|NCIT:C3756 A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component. MESH:D018243|NCIT:C3756|UMLS:C0206664|DOID:3305 http://purl.obolibrary.org/obo/MONDO_0002599 mixed embryonal carcinoma and teratoma|teratocarcinoma|teratocarcinoma (morphologic abnormality) GO:1903725 regulation of phospholipid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of phospholipid metabolic process. http://purl.obolibrary.org/obo/GO_1903725 regulation of phospholipid metabolism MONDO:0002592 invasive malignant thymoma biolink:Disease mondo DOID:3283|NCIT:C7904|UMLS:C0278846 A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues. UMLS:C0278846|DOID:3283|NCIT:C7904 http://purl.obolibrary.org/obo/MONDO_0002592 malignant thymoma, invasive|thymoma malignant invasive|invasive malignant thymoma|infiltrating thymoma MONDO:0002593 obsolete thymic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002593 MONDO:0002594 monkeypox biolink:Disease mondo SCTID:359814004|ICD10:B04|DOID:3292|GARD:0010722|NCIT:C128421|UMLS:C0276180|ICD9:136.8|MESH:D045908|ICD9:059.01 An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks. SNOMEDCT:359814004|MESH:D045908|NCIT:C128421|UMLS:C0276180|DOID:3292 http://purl.obolibrary.org/obo/MONDO_0002594 infections, Monkeypox virus|Monkeypox virus infection gard_rare MONDO:0002595 vaccinia biolink:Disease mondo UMLS:C0042214|ICD9:999.0|MESH:D014615|SCTID:111852003|DOID:3298 The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine. MESH:D014615|SNOMEDCT:111852003|UMLS:C0042214|DOID:3298 http://purl.obolibrary.org/obo/MONDO_0002595 MONDO:0002590 combined thymoma biolink:Disease mondo DOID:3281 DOID:3281 http://purl.obolibrary.org/obo/MONDO_0002590 MONDO:0002591 obsolete dendritic cell thymoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002591 MONDO:0014589 maturity-onset diabetes of the young type 13 biolink:Disease mondo OMIM:616329|DOID:0111110|UMLS:C4225365 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene. http://identifiers.org/omim/616329|DOID:0111110|UMLS:C4225365 http://purl.obolibrary.org/obo/MONDO_0014589 MODY13|MODY type 13|KCNJ11 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 13; MODY13|MODY, type 13|maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11|maturity-onset diabetes of the young, type 13 MONDO:0014588 congenital myasthenic syndrome 11 biolink:Disease mondo DOID:0110675|MESH:C563831|OMIM:616326 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene. DOID:0110675|http://identifiers.org/omim/616326|MESH:C563831 http://purl.obolibrary.org/obo/MONDO_0014588 Cms Ie|congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency|CMS11|congenital myasthenic syndrome 1e|CMS1E|congenital myasthenic syndrome type 11|CMS Ie|congenital myasthenic syndrome caused by mutation in RAPSN|myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; CMS11|RAPSN congenital myasthenic syndrome|myasthenic syndrome, congenital, Ie, formerly|Cms Ie, formerly|myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, Ie MONDO:0014587 congenital myasthenic syndrome 9 biolink:Disease mondo OMIM:616325|DOID:0110670|UMLS:C4225368 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene. DOID:0110670|http://identifiers.org/omim/616325|UMLS:C4225368 http://purl.obolibrary.org/obo/MONDO_0014587 MUSK congenital myasthenic syndrome|CMS9|congenital myasthenic syndrome caused by mutation in MUSK|myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; CMS9|congenital myasthenic syndrome type 9 GO:0036378 calcitriol biosynthetic process from calciol biolink:OntologyClass mondo Conversion of vitamin D3 from its largely inactive form (calciol, also called cholecalciferol) into a hormonally active form (calcitriol). Conversion requires 25-hydroxylation of calciol in the liver to form calcidiol, and subsequent 1,alpha-hydroxylation of calcidiol in the kidney to form calcitriol. http://purl.obolibrary.org/obo/GO_0036378 calcitriol biosynthesis from calciol|1alpha,25-dihydroxycholecalciferol biosynthesis|1alpha,25-dihydroxyvitamin D3 biosynthesis|1alpha,25(OH)2D3 biosynthesis|vitamin D3 activation MONDO:0014586 congenital myasthenic syndrome 4B biolink:Disease mondo UMLS:C4225369|OMIM:616324|DOID:0110677 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. DOID:0110677|http://identifiers.org/omim/616324|UMLS:C4225369 http://purl.obolibrary.org/obo/MONDO_0014586 CMS4B|congenital myasthenic syndrome type 4B|congenital myasthenic syndrome 4B fast-channel|myasthenic syndrome, congenital, 4B, FAST-channel|myasthenic syndrome, congenital, 4B, FAST-channel; CMS4B MONDO:0014581 congenital myasthenic syndrome 2A biolink:Disease mondo GARD:0009895|OMIM:616313|DOID:0110681|UMLS:C4225374 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. UMLS:C4225374|DOID:0110681|http://identifiers.org/omim/616313 http://purl.obolibrary.org/obo/MONDO_0014581 myasthenic syndrome, congenital, postsynaptic slow-channel|myasthenic syndrome, congenital, 2A, slow-channel|myasthenic syndrome, congenital, type IIa|CMS2A|congenital myasthenic syndrome 2A slow-channel|myasthenic syndrome, congenital, slow-channel|congenital myasthenic syndrome type 2A|slow channel congenital myasthenic syndrome|myasthenic syndrome, congenital, 2A, slow-channel; CMS2A|SCCMS|CMS2A|CMS IIa GO:0061307 cardiac neural crest cell differentiation involved in heart development biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of a cardiac neural crest cell that will migrate to the heart and contribute to its development. Cardiac neural crest cells are specialized cells that migrate toward the heart from the third, fourth and sixth pharyngeal arches. http://purl.obolibrary.org/obo/GO_0061307 MONDO:0014580 intellectual disability, autosomal dominant 33 biolink:Disease mondo DOID:0070063|OMIM:616311 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene. DOID:0070063|http://identifiers.org/omim/616311 http://purl.obolibrary.org/obo/MONDO_0014580 mental retardation, autosomal dominant type 33|DPP6 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 33; MRD33|intellectual disability, autosomal dominant 33|autosomal dominant mental retardation 33|autosomal dominant intellectual disability 33|mental retardation, autosomal dominant 33|autosomal dominant non-syndromic intellectual disability 33|intellectual disability, autosomal dominant type 33|autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6|MRD33|intellectual disability, autosomal dominant 33; MRD33 GO:0061308 cardiac neural crest cell development involved in heart development biolink:OntologyClass mondo The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the development of the heart. http://purl.obolibrary.org/obo/GO_0061308 MONDO:0014585 congenital myasthenic syndrome 3C biolink:Disease mondo OMIM:616323|DOID:0110664|UMLS:C4225370 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37. http://identifiers.org/omim/616323|UMLS:C4225370|DOID:0110664 http://purl.obolibrary.org/obo/MONDO_0014585 CMS3C|congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C|congenital myasthenic syndrome type 3C|myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency MONDO:0014584 congenital myasthenic syndrome 3B biolink:Disease mondo OMIM:616322|DOID:0110665|UMLS:C4225371 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. http://identifiers.org/omim/616322|UMLS:C4225371|DOID:0110665 http://purl.obolibrary.org/obo/MONDO_0014584 congenital myasthenic syndrome 3B, fast-channel|CMS3B|myasthenic syndrome, congenital, 3B, FAST-channel|congenital myasthenic syndrome type 3B|myasthenic syndrome, congenital, 3B, FAST-channel; CMS3B GO:0051970 negative regulation of transmission of nerve impulse biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. http://purl.obolibrary.org/obo/GO_0051970 downregulation of transmission of nerve impulse|inhibition of transmission of nerve impulse|negative regulation of conduction of nerve impulse|down-regulation of transmission of nerve impulse|down regulation of transmission of nerve impulse MONDO:0014583 congenital myasthenic syndrome 3A biolink:Disease mondo UMLS:C4225372|DOID:0110666|OMIM:616321 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37. http://identifiers.org/omim/616321|UMLS:C4225372|DOID:0110666 http://purl.obolibrary.org/obo/MONDO_0014583 congenital myasthenic syndrome 3A, slow-channel|myasthenic syndrome, congenital, 3A, slow-channel|congenital myasthenic syndrome type 3A|CMS3A|myasthenic syndrome, congenital, 3A, slow-channel; CMS3A GO:0036374 glutathione hydrolase activity biolink:OntologyClass mondo Catalysis of the reaction: glutathione + H2O = L-cysteinylglycine + L-glutamate. http://purl.obolibrary.org/obo/GO_0036374 glutathionase activity|gamma-glutamyltranspeptidase activity MONDO:0014582 congenital myasthenic syndrome 2C biolink:Disease mondo OMIM:616314|DOID:0110680|UMLS:C4225373 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. UMLS:C4225373|DOID:0110680|http://identifiers.org/omim/616314 http://purl.obolibrary.org/obo/MONDO_0014582 myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C|CMS2C|congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 2C GO:0051984 positive regulation of chromosome segregation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. http://purl.obolibrary.org/obo/GO_0051984 upregulation of chromosome segregation|up regulation of chromosome segregation|stimulation of chromosome segregation|up-regulation of chromosome segregation|activation of chromosome segregation GO:0051985 negative regulation of chromosome segregation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. http://purl.obolibrary.org/obo/GO_0051985 down regulation of chromosome segregation|inhibition of chromosome segregation|down-regulation of chromosome segregation|downregulation of chromosome segregation NCBITaxon:2701 Gardnerella organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_2701 GO:0051983 regulation of chromosome segregation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. http://purl.obolibrary.org/obo/GO_0051983 CL:0001008 Kit and Sca1-positive hematopoietic stem cell biolink:Cell mondo A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative. http://purl.obolibrary.org/obo/CL_0001008 LSK stem cell|Sca1-positive hematopoietic stem cell UBERON:0035159 entire surface of organism biolink:AnatomicalEntity mondo Anatomical surface, which is the external surface of the whole body. Examples: There is only one body surface. http://purl.obolibrary.org/obo/UBERON_0035159 surface of body NCBITaxon:2702 Gardnerella vaginalis organism taxon mondo PMID:8782675|PMID:14361525|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_2702 Corynebacterium vaginale|Haemophilus vaginalis|Haemophilus hemolyticus vaginalis MONDO:0014578 congenital myasthenic syndrome 17 biolink:Disease mondo UMLS:C4225377|OMIM:616304|DOID:0110674 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene. DOID:0110674|http://identifiers.org/omim/616304|UMLS:C4225377 http://purl.obolibrary.org/obo/MONDO_0014578 CMS17|congenital myasthenic syndrome type 17|myasthenic syndrome, congenital, type 17|myasthenic syndrome, congenital, 17; CMS17|LRP4 congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in LRP4|myasthenic syndrome, congenital, 17 MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly biolink:Disease mondo OMIM:616300|UMLS:C4225378|DOID:0110093|ICD10:Q77.2 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. http://identifiers.org/omim/616300|UMLS:C4225378|DOID:0110093 http://purl.obolibrary.org/obo/MONDO_0014577 short-rib thoracic dysplasia 13 with or without polydactyly; SRTD13|SRTD13|short-rib thoracic dysplasia 13 with or without polydactyly MONDO:0014576 lipoyl transferase 1 deficiency biolink:Disease mondo Orphanet:401862|ICD10:E88.8|UMLS:C4225379|OMIM:616299 http://identifiers.org/omim/616299|ORPHA:401862|UMLS:C4225379 http://purl.obolibrary.org/obo/MONDO_0014576 lipoyltransferase 1 deficiency|lipoyltransferase 1 deficiency; LIPT1D|LIPT1D ordo_disease MONDO:0014575 Singleton-Merten syndrome 2 biolink:Disease mondo OMIM:616298|UMLS:C4225380 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene. http://identifiers.org/omim/616298|UMLS:C4225380 http://purl.obolibrary.org/obo/MONDO_0014575 singleton-Merten syndrome 2|singleton-Merten dysplasia caused by mutation in DDX58|DDX58 singleton-Merten dysplasia|singleton-Merten syndrome 2; SGMRT2|singleton-Merten syndrome type 2|SGMRT2 HGNC:13533 ATP8A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/13533 MONDO:0014579 Senior-Loken syndrome 8 biolink:Disease mondo UMLS:C4225376|OMIM:616307 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://identifiers.org/omim/616307|UMLS:C4225376 http://purl.obolibrary.org/obo/MONDO_0014579 SLSN8|Senior-Loken syndrome 8|WDR19 Senior-Loken syndrome|Senior-Loken syndrome type 8|Senior-Loken syndrome caused by mutation in WDR19|SENIOR-Loken syndrome 8; SLSN8 MONDO:0014570 lethal congenital contracture syndrome 8 biolink:Disease mondo OMIM:616287|UMLS:C4225385 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene. http://identifiers.org/omim/616287|UMLS:C4225385 http://purl.obolibrary.org/obo/MONDO_0014570 lethal congenital contracture syndrome type 8|lethal congenital contracture syndrome 8|lethal congenital contracture syndrome caused by mutation in ADCY6|lethal congenital contracture syndrome 8; LCCS8|LCCS8|ADCY6 lethal congenital contracture syndrome HGNC:13530 RXYLT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13530 MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome biolink:Disease mondo OMIM:616295|ICD10:Q82.8|UMLS:C4225381|Orphanet:444138 http://identifiers.org/omim/616295|ORPHA:444138|UMLS:C4225381 http://purl.obolibrary.org/obo/MONDO_0014574 plack|peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads|peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads; plack|plack syndrome|peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome ordo_disease MONDO:0014573 Cole-Carpenter syndrome 2 biolink:Disease mondo UMLS:C4225382|OMIM:616294 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene. http://identifiers.org/omim/616294|UMLS:C4225382 http://purl.obolibrary.org/obo/MONDO_0014573 Cole-Carpenter syndrome caused by mutation in SEC24D|SEC24D Cole-Carpenter syndrome|Cole-Carpenter syndrome type 2|CLCRP2|Cole-Carpenter syndrome 2|COLE-CARPENTER syndrome 2; CLCRP2 MONDO:0014572 Lichtenstein-Knorr syndrome biolink:Disease mondo UMLS:C4225383|ICD10:G11.1|OMIM:616291|Orphanet:448251|DOID:0080065 http://identifiers.org/omim/616291|DOID:0080065|ORPHA:448251|UMLS:C4225383 http://purl.obolibrary.org/obo/MONDO_0014572 SCAR19|LIKNS|Lichtenstein-Knorr syndrome|autosomal recessive spinocerebellar ataxia 19|progressive autosomal recessive ataxia-deafness syndrome|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|Lichtenstein-Knorr syndrome; LIKNS|spinocerebellar ataxia, autosomal recessive 19|autosomal recessive spinocerebellar ataxia type 19 ordo_disease MONDO:0014571 optic atrophy 9 biolink:Disease mondo OMIM:616289|UMLS:C4085249 http://identifiers.org/omim/616289|UMLS:C4085249 http://purl.obolibrary.org/obo/MONDO_0014571 autosomal recessive isolated optic atrophy caused by mutation in ACO2|optic atrophy 9|optic atrophy 9; OPA9|OPA9|ACO2 autosomal recessive isolated optic atrophy CHEBI:48219 disinfectant biolink:ChemicalSubstance mondo An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity. http://purl.obolibrary.org/obo/CHEBI_48219 desinfectant|disinfectants|Desinfektionsmittel|disinfecting agent UBERON:0035201 gastrocolic ligament biolink:AnatomicalEntity mondo A major portion of the greater omentum between the stomach and the transverse colon. http://purl.obolibrary.org/obo/UBERON_0035201 CHEBI:48210 cyclopentafurofurochromene biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_48210 cyclopentafurofurochromenes UBERON:0011234 fibrous membrane of synovial tendon sheath biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011234 UBERON:0011233 synovial membrane of synovial tendon sheath biolink:AnatomicalEntity mondo Synovial sac which surrounds parts of one or more tendons. Examples: synovial tendon sheath of manual digit 2, radial bursa. http://purl.obolibrary.org/obo/UBERON_0011233 synovium HGNC:8533 P2RX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8533 HGNC:25613 CWF19L1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25613 UBERON:0001899 epithalamus biolink:AnatomicalEntity mondo Most dorsal part of the thalamus, comprising the pineal gland and habenular nuclei in most vertebrates. In a few vertebrates, it also includes the parietal eye. (Butler and Hodos, Comparative Vertebrate Neuroanatomy, 2nd ed, 2005, pg. 345-346. http://purl.obolibrary.org/obo/UBERON_0001899 epithalamus|ETh UBERON:0001898 hypothalamus biolink:AnatomicalEntity mondo A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]. http://purl.obolibrary.org/obo/UBERON_0001898 preoptico-hypothalamic region|Hy|hypothalamus|preoptico-hypothalamic area NCBITaxon:133894 Penaeus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_133894 Farfantepenaeus|Marsupenaeus|Fenneropenaeus|Melicertus|Litopenaeus UBERON:0011220 mastoid process of temporal bone biolink:AnatomicalEntity mondo The mastoid process is a conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. It is located just behind the external acoustic meatus, and lateral to the styloid process. Its size and form vary somewhat; it is larger in the male than in the female. This process serves for the attachment of the posterior belly of the digastric, sternocleidomastoid, splenius capitis, and longissimus capitis muscles. The word is derived from the Greek 'masto-', alluding to its resemblance to the breast. http://purl.obolibrary.org/obo/UBERON_0011220 mastoid process|mastoid process of skull|mastoid|processus mastoideus ossis temporalis NCBITaxon:133898 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_133898 UBERON:0035216 thoracic part of esophagus biolink:AnatomicalEntity mondo Zone of esophagus located in the thorax. http://purl.obolibrary.org/obo/UBERON_0035216 pars thoracica oesophageae|thoracic part of oesophagus|pars thoracica (oesophagus)|thoracic esophagus UBERON:0011222 intra-ocular muscle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011222 intrinsic muscle of eyeball|intrinsic ocular muscle NCBITaxon:73421 Dicrocoeliidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_73421 UBERON:0011216 organ system subdivision biolink:AnatomicalEntity mondo A subdivision of an anatomical system. http://purl.obolibrary.org/obo/UBERON_0011216 HGNC:8548 P4HB biolink:OntologyClass mondo http://identifiers.org/hgnc/8548 UBERON:0011215 central nervous system cell part cluster biolink:AnatomicalEntity mondo A multi cell part structure that is part of a central nervous system. http://purl.obolibrary.org/obo/UBERON_0011215 cell part cluster of neuraxis|neuraxis layer HGNC:8547 P4HA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8547 HGNC:8549 BLOC1S6 biolink:OntologyClass mondo http://identifiers.org/hgnc/8549 HGNC:25608 VPS53 biolink:OntologyClass mondo http://identifiers.org/hgnc/25608 NCBITaxon:131221 Streptophytina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_131221 Charophyta/Embryophyta group|charophyte/embryophyte group HP:0031047 Paraproteinemia biolink:PhenotypicFeature mondo An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. http://purl.obolibrary.org/obo/HP_0031047 Monoclonal hypergammaglobulinemia UBERON:0011213 root of vagus nerve biolink:AnatomicalEntity mondo A root of cranial nerve that is part of a vagus nerve. http://purl.obolibrary.org/obo/UBERON_0011213 vagal root|rX|vagus neural rootlet|vagus root|rootlet of vagus nerve|vagus nerve root CHEBI:38869 general anaesthetic biolink:ChemicalSubstance mondo Substance that produces loss of consciousness. http://purl.obolibrary.org/obo/CHEBI_38869 general anaesthetic|general anaesthetics|Allgemeinanaesthetika|general anesthetics|Allgemeinanaesthetikum CHEBI:38867 anaesthetic biolink:ChemicalSubstance mondo Substance which produces loss of feeling or sensation. http://purl.obolibrary.org/obo/CHEBI_38867 Anaesthetikum|anesthetic agent|anesthetics|Anaesthetika|anesthetic drug|anaesthetic|anaesthetics HGNC:13601 FBXL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/13601 UBERON:0001895 metencephalon biolink:AnatomicalEntity mondo Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. http://purl.obolibrary.org/obo/UBERON_0001895 epencephalon|epencephalon-2 UBERON:0001894 diencephalon biolink:AnatomicalEntity mondo The division of the forebrain that develops from the foremost primary cerebral vesicle. http://purl.obolibrary.org/obo/UBERON_0001894 interbrain|mature diencephalon|betweenbrain|thalamencephalon|DiE|between brain|diencephalon UBERON:0001897 dorsal plus ventral thalamus biolink:AnatomicalEntity mondo Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87). http://purl.obolibrary.org/obo/UBERON_0001897 wider thalamus|Th|thalami|thalamencephalon|thalamus opticus|thalamus UBERON:0001896 medulla oblongata biolink:AnatomicalEntity mondo Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. http://purl.obolibrary.org/obo/UBERON_0001896 bulbus|metepencephalon|medulla oblonzata|bulb|medulla UBERON:0001891 midbrain biolink:AnatomicalEntity mondo The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. http://purl.obolibrary.org/obo/UBERON_0001891 mesencephalon|MB UBERON:0001890 forebrain biolink:AnatomicalEntity mondo The most anterior region the brain including both the telencephalon and diencephalon. http://purl.obolibrary.org/obo/UBERON_0001890 FB|prosencephalon UBERON:0001893 telencephalon biolink:AnatomicalEntity mondo Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres. http://purl.obolibrary.org/obo/UBERON_0001893 cerebrum|supratentorial region|endbrain UBERON:0001892 rhombomere biolink:AnatomicalEntity mondo A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure.[WP]. http://purl.obolibrary.org/obo/UBERON_0001892 future rhombencephalon|segment of hindbrain|hindbrain segment|hindbrain neuromere|rhombomeres|hindbrain neuromeres|rhombomere IAO:0100001 term replaced by biolink:OntologyClass mondo http://purl.obolibrary.org/obo/IAO_0100001 CHEBI:26895 tetracyclines biolink:ChemicalSubstance mondo A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. http://purl.obolibrary.org/obo/CHEBI_26895 HP:0031058 Impairment of activities of daily living biolink:PhenotypicFeature mondo Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. http://purl.obolibrary.org/obo/HP_0031058 UBERON:0011203 urachus mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing urachus. http://purl.obolibrary.org/obo/UBERON_0011203 UBERON:0011202 urachus epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a urachus. http://purl.obolibrary.org/obo/UBERON_0011202 UBERON:0011201 muscle layer of small intestine biolink:AnatomicalEntity mondo A muscle layer that is part of a small intestine. http://purl.obolibrary.org/obo/UBERON_0011201 muscularis externa of small intestine|muscular coat of small intestine|muscular layer of small intestine|tunica muscularis intestini tenuis|small intestine muscularis propria|tunica muscularis (intestinum tenue) UBERON:0011200 sacrococcygeal symphysis biolink:AnatomicalEntity mondo The sacrococcygeal symphysis (sacrococcygeal articulation, articulation of the sacrum and coccyx) is an amphiarthrodial joint, formed between the oval surface at the apex of the sacrum, and the base of the coccyx. It is a slightly moveable joint which is frequently, partially or completely, obliterated in old age, homologous with the joints between the bodies of the vertebrae. http://purl.obolibrary.org/obo/UBERON_0011200 sacrococcygeal joint|sacrococcygeal joint UBERON:0035237 branch of internal carotid artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035237 subdivision of internal carotid artery|internal carotid arterial subdivision CHEBI:38877 intravenous anaesthetic biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38877 i.v.-Anaesthetikum|i.v.-Anaesthetika|intravenous anesthetics UBERON:0035228 tonsillar fossa biolink:AnatomicalEntity mondo Between the plica triangularis and the surface of the palatine tonsils is a space known as the tonsillar fossa (or tonsillar sinus); in many cases, however, this sinus is obliterated by its walls becoming adherent. http://purl.obolibrary.org/obo/UBERON_0035228 tonsillar sinus|tonsillar bed UBERON:0001884 phrenic nerve biolink:AnatomicalEntity mondo A nerve that arises from the caudal cervical nerves and is primarily the motor nerve of the diaphragm but also sends sensory fibers to the pericardium. http://purl.obolibrary.org/obo/UBERON_0001884 diaphragmatic nerve|phrenic|nervus phrenicus UBERON:0001886 choroid plexus biolink:AnatomicalEntity mondo A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces. http://purl.obolibrary.org/obo/UBERON_0001886 choroid plexus of cerebral hemisphere|ventricular choroid plexus|plexus choroideus|chorioid plexus|CP|plexus choroideus UBERON:0001885 dentate gyrus of hippocampal formation biolink:AnatomicalEntity mondo Part of the hippocampal formation forming a 'V' or 'U' shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer. http://purl.obolibrary.org/obo/UBERON_0001885 dentate area (dentate gyrus)|dentate gyrus|gyrus dentatus|area dentata|fascia dentata|hippocampal dentate gyrus|dentate area HGNC:8565 PABPN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8565 MONDO:0002413 glycogen storage disease I biolink:Disease mondo MedDRA:10018464|ICD10:E74.0|NCIT:C84733|DOID:2749|MESH:D005953|Orphanet:364|SCTID:7265005|ICD10:E74.01 Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. ORPHA:364|MEDDRA:10018464|DOID:2749|SNOMEDCT:7265005|MESH:D005953|UMLS:C0017920|NCIT:C84733 http://purl.obolibrary.org/obo/MONDO_0002413 hepatorenal glycogenosis|glycogen storage disease type I|von Gierke disease|glycogen storage disease, type I|glycogenosis type 1|GSD type I|glycogenosis type I|GSD due to G6P deficiency|glycogen storage disease due to G6P deficiency|G6P deficiency|GSD1|glycogen storage disease type 1|deficiency of glucose-6-phosphatase|glycogen storage disease due to glucose-6-phosphatase deficiency|GSD type 1|von Gierke's disease ordo_disease MONDO:0002414 gastric hemangioma biolink:Disease mondo UMLS:C1333770|NCIT:C5481|DOID:275 A hemangioma arising from the stomach. UMLS:C1333770|DOID:275|NCIT:C5481 http://purl.obolibrary.org/obo/MONDO_0002414 gastric angioma|gastric hemangioma|stomach hemangioma|hemangioma of stomach|hemangioma of the stomach|angioma of the stomach|angioma of stomach CHEBI:73216 EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor biolink:ChemicalSubstance mondo Any hydrolase inhibitor that interferes with the action of a hydrolase which acts on acid anhydrides (EC 3.6.*.*). http://purl.obolibrary.org/obo/CHEBI_73216 EC 3.6 inhibitor|EC 3.6 inhibitors|EC 3.6.* (hydrolases acting on acid anhydrides) inhibitors|EC 3.6.* inhibitor|acid anhydride hydrolase inhibitor|EC 3.6.*.* inhibitor|EC 3.6.*.* inhibitors|acid anhydride hydrolase inhibitors|inhibitors of hydrolase acting on acid anhydride (EC 3.6.*)|inhibitor of hydrolase acting on acid anhydride (EC 3.6.*)|EC 3.6.* inhibitors MONDO:0002415 bone carcinoma biolink:Disease mondo DOID:2762 A carcinoma that involves the bone element. DOID:2762 http://purl.obolibrary.org/obo/MONDO_0002415 carcinoma of bone element|bone element carcinoma MONDO:0002416 ethmoid sinus squamous cell carcinoma biolink:Disease mondo UMLS:C1333477|NCIT:C6065|DOID:2763|SCTID:707359008 A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. SNOMEDCT:707359008|UMLS:C1333477|NCIT:C6065|DOID:2763 http://purl.obolibrary.org/obo/MONDO_0002416 epidermoid carcinoma of the ethmoid sinus|epidermoid carcinoma of ethmoid sinus|ethmoid sinus epidermoid carcinoma|epidermoid carcinoma of ethmoidal sinus|epidermoid carcinoma of the ethmoidal sinus|ethmoidal sinus squamous cell carcinoma|squamous cell carcinoma of the ethmoid sinus|squamous cell carcinoma of ethmoid sinus|ethmoidal sinus epidermoid carcinoma|squamous cell carcinoma of the ethmoidal sinus|squamous cell carcinoma of ethmoidal sinus|ethmoid sinus squamous cell carcinoma UBERON:0011272 embryonic skin basal layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011272 basal cell layer of skin|outer epithelium of body MONDO:0002410 pyeloureteritis cystica biolink:Disease mondo DOID:2743|SCTID:37779008|ICD10:N28.85|UMLS:C0156254|COHD:199869|ICD9:590.3 SNOMEDCT:37779008|UMLS:C0156254|DOID:2743 http://purl.obolibrary.org/obo/MONDO_0002410 MONDO:0002411 narcissistic personality disorder biolink:Disease mondo COHD:440080|DOID:2745|SCTID:80711002|ICD10:F60.81|ICD9:301.81|NCIT:C92635 A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others. NCIT:C92635|SNOMEDCT:80711002|DOID:2745 http://purl.obolibrary.org/obo/MONDO_0002411 UBERON:0011270 dorsal trunk biolink:AnatomicalEntity mondo The part of the trunk that is in the dorsum[cjm]. http://purl.obolibrary.org/obo/UBERON_0011270 dorsal part of trunk|dorsum of trunk|back of trunk|trunk back MONDO:0002412 glycogen storage disease biolink:Disease mondo ICD10:E74.00|MESH:D006008|NCIT:C61272|ICD9:271.0|UMLS:C0017919|ICD10:E74.0|COHD:434003|SCTID:29633007|DOID:0050728|Orphanet:79201|DOID:2747|MedDRA:10061990 An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. SNOMEDCT:29633007|DOID:0050728|MESH:D006008|NCIT:C61272|ORPHA:79201|DOID:2747|MEDDRA:10061990|UMLS:C0017919 http://purl.obolibrary.org/obo/MONDO_0002412 glycogen metabolism disorder|inborn glycogen storage disorder|glycogen storage disease|rare inborn error of glycogen metabolic process|glycogenosis|GSD|inborn glycogen metabolic process disorder|glycogenoses|inborn error of glycogen metabolic process|glycogen storage disorder|rare inborn error of glycogen metabolic process ordo_group_of_disorders UBERON:0011273 nail of manual digit 1 biolink:AnatomicalEntity mondo A nail that is part of a manual digit 1. http://purl.obolibrary.org/obo/UBERON_0011273 nail plate of thumb|thumb nail|nail of manual digit I|nail of thumb|claw of digit 1 of fore-paw UBERON:0011278 nail of pedal digit 1 biolink:AnatomicalEntity mondo A nail that is part of a pedal digit 1. http://purl.obolibrary.org/obo/UBERON_0011278 nail of pedal digit I|claw of digit 1 of hind-paw|big toe nail|nail of big toe|nail of great toe|nail of first toe|nail plate of big toe UBERON:0011277 nail of manual digit 5 biolink:AnatomicalEntity mondo A nail that is part of a manual digit 5. http://purl.obolibrary.org/obo/UBERON_0011277 little finger nail|nail of fifth finger|nail of little finger|nail plate of little finger|nail of manual digit V|claw of digit 5 of fore-paw MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy biolink:Disease mondo ICD10:G31.8|OMIM:615924|Orphanet:363400|UMLS:C4014700 ORPHA:363400|UMLS:C4014700|http://identifiers.org/omim/615924 http://purl.obolibrary.org/obo/MONDO_0014402 severe neurodegenerative syndrome due to BSCL2 deficiency|encephalopathy, progressive, with or without lipodystrophy|PELD|encephalopathy, progressive, with or without lipodystrophy; PELD ordo_disease MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome biolink:Disease mondo Orphanet:329191|UMLS:C4014690|OMIM:615923|DOID:0070316 Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. ORPHA:329191|UMLS:C4014690|DOID:0070316|http://identifiers.org/omim/615923 http://purl.obolibrary.org/obo/MONDO_0014401 ECDM|epiphyseal chondrodysplasia, MIURA type; ECDM|epiphyseal chondrodysplasia, MIURA type|Miura type epiphyseal chondrodysplasia|tall stature-scoliosis-macrodactyly of the halluces syndrome ordo_disease MONDO:0014400 retinitis pigmentosa 70 biolink:Disease mondo DOID:0110392|UMLS:C4014681|OMIM:615922|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene. UMLS:C4014681|DOID:0110392|http://identifiers.org/omim/615922 http://purl.obolibrary.org/obo/MONDO_0014400 RP70|retinitis pigmentosa caused by mutation in PRPF4|retinitis pigmentosa type 70|retinitis pigmentosa 70|PRPF4 retinitis pigmentosa|retinitis pigmentosa 70; RP70 MONDO:0014406 pancreatic agenesis 2 biolink:Disease mondo OMIM:615935|UMLS:C4014737 Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene. http://identifiers.org/omim/615935|UMLS:C4014737 http://purl.obolibrary.org/obo/MONDO_0014406 pancreatic agenesis 2|pancreatic agenesis 2; PAGEN2|PTF1A pancreatic agenesis|pancreatic hypoplasia, congenital 2|PAGEN2|pancreatic agenesis caused by mutation in PTF1A|pancreatic agenesis type 2 MONDO:0014405 STING-associated vasculopathy with onset in infancy biolink:Disease mondo ICD10:M35.8|Orphanet:425120|UMLS:C4014722|UMLS:C4040879|GARD:0012357|ICD9:279.8|SCTID:711164003|OMIM:615934 STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. http://identifiers.org/omim/615934|ORPHA:425120|SNOMEDCT:711164003|UMLS:C4014722|UMLS:C4040879 http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy, infantile-onset; SAVI|SAVI|STING-associated vasculopathy, infantile-onset gard_rare|ordo_disease MONDO:0014404 Webb-Dattani syndrome biolink:Disease mondo OMIM:615926|UMLS:C4014708|Orphanet:370006 UMLS:C4014708|ORPHA:370006|http://identifiers.org/omim/615926 http://purl.obolibrary.org/obo/MONDO_0014404 hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies|WEDAS|WEBB-Dattani syndrome; WEDAS|Webb-Dattani syndrome|hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome MONDO:0014403 short stature due to GHSR deficiency biolink:Disease mondo Orphanet:314811|ICD10:E34.3|SCTID:766817004|OMIM:615925 Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. ORPHA:314811|SNOMEDCT:766817004|http://identifiers.org/omim/615925 http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to growth hormone secretagogue receptor deficiency|growth hormone deficiency, isolated partial; GHDP|growth hormone deficiency, isolated partial|GHDP|ghrelin receptor deficiency ordo_disease MONDO:0002406 dermatitis biolink:Disease mondo EFO:1000636|SCTID:43116000|DOID:2723|NCIT:C2983|UMLS:C0011603|ICD10:L30.9|MESH:D003872|ICD9:692.9 An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. MESH:D003872|NCIT:C2983|UMLS:C0011603|SNOMEDCT:43116000|DOID:2723 http://purl.obolibrary.org/obo/MONDO_0002406 eczema|inflammatory skin disease|inflammation of skin|zone of skin inflammation|inflammation of the skin|inflammation of zone of skin|skin inflammation MONDO:0002407 capillary hemangioma biolink:Disease mondo ICD10:Q82.5|DOID:2725|ICDO:9131/0|NCIT:C7457|SCTID:56975005|UMLS:C0206733|MESH:D018324 A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. SNOMEDCT:56975005|UMLS:C0206733|NCIT:C7457|MESH:D018324|DOID:2725 http://purl.obolibrary.org/obo/MONDO_0002407 congenital vascular hamartoma|congenital vascular naevus|strawberry nevus of skin|strawberry haemangioma|strawberry nevus|cellular hemangioma of infancy|infantile hemangioma|juvenile hemangioma|capillary hemangioma|capillary angioma|capillary hemangioma (morphologic abnormality)|cellular hemangioma of infancy (strawberry nevus) HGNC:8574 PAFAH1B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8574 MONDO:0002408 hereditary hyperbilirubinemia biolink:Disease mondo DOID:2741|NCIT:C84761|UMLS:C0020435|OMIMPS:237450|MESH:D006933 An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. MESH:D006933|NCIT:C84761|UMLS:C0020435|DOID:2741 http://purl.obolibrary.org/obo/MONDO_0002408 hereditary hyperbilirubinemia|hyperbilirubinemia|hyperbilirubinaemia|bilirubin metabolic disorder MONDO:0002409 auditory system disease biolink:Disease mondo ICD9:388.9|ICD10:H93.9|EFO:1001455|DOID:2742|ICD10:H93.90|SCTID:362966006 A disease involving the auditory system. SNOMEDCT:362966006|DOID:2742 http://purl.obolibrary.org/obo/MONDO_0002409 disorder of auditory system|ear and mastoid disease|disorder of auditory system|auditory system disease|auditory disease|disease or disorder of auditory system|auditory system disease or disorder|disease of auditory system MONDO:0002424 rectosigmoid carcinoma biolink:Disease mondo NCIT:C7421|DOID:2781|UMLS:C1327709 A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area. UMLS:C1327709|NCIT:C7421|DOID:2781 http://purl.obolibrary.org/obo/MONDO_0002424 rectosigmoid junction carcinoma|rectosigmoid carcinoma|rectosigmoid cancer|carcinoma of rectosigmoid junction MONDO:0002425 rectosigmoid junction cancer biolink:Disease mondo COHD:4180792|NCIT:C7420|SCTID:363414004|DOID:2782|ICD9:154.0|ICD10:C19|UMLS:C0153443 A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma. NCIT:C7420|DOID:2782|UMLS:C0153443|SNOMEDCT:363414004 http://purl.obolibrary.org/obo/MONDO_0002425 rectosigmoid junction cancer|malignant rectosigmoid neoplasm|cancer of rectosigmoid junction|malignant rectosigmoid junction neoplasm|malignant neoplasm of the rectosigmoid junction|malignant rectosigmoid tumor|malignant tumor of the rectosigmoid junction|malignant tumor of rectosigmoid junction|malignant neoplasm of rectosigmoid|malignant neoplasm of rectosigmoid junction CHEBI:26878 tertiary alcohol biolink:ChemicalSubstance mondo A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. http://purl.obolibrary.org/obo/CHEBI_26878 tertiary alcohol|tertiary alcohols MONDO:0002426 lung sarcoma biolink:Disease mondo NCIT:C4860|DOID:2784|UMLS:C0598790 A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma. UMLS:C0598790|DOID:2784|NCIT:C4860 http://purl.obolibrary.org/obo/MONDO_0002426 pulmonary sarcoma|sarcoma of lung|lung sarcoma|sarcoma of the lung MONDO:0002427 cerebellar disease biolink:Disease mondo UMLS:C0007760|DOID:2786|MESH:D002526|SCTID:223176004 Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. MESH:D002526|SNOMEDCT:223176004|UMLS:C0007760|DOID:2786 http://purl.obolibrary.org/obo/MONDO_0002427 disease of cerebellum|disease or disorder of cerebellum|disorder of cerebellum|cerebellum disease|cerebellum disease or disorder|disorder of cerebellum CHEBI:26873 terpenoid biolink:ChemicalSubstance mondo Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group. http://purl.obolibrary.org/obo/CHEBI_26873 terpenoides|Terpenoid|terpenoids|terpenoide MONDO:0002420 tic disorder biolink:Disease mondo ICD10:F95.9|SCTID:568005|COHD:381839|MESH:D013981|ICD9:307.2|ICD9:307.20|ICD10:F95|DOID:2769 Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994) MESH:D013981|SNOMEDCT:568005|DOID:2769 http://purl.obolibrary.org/obo/MONDO_0002420 MONDO:0002421 obsolete chorioangioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002421 MONDO:0002422 adamantinoma biolink:Disease mondo Orphanet:55881|DOID:2776|ONCOTREE:ADMA|DOID:2775|MESH:D050398|ICD10:C40.2|UMLS:C1367554|NCIT:C7644|MESH:C562741|ICDO:9261/3|OMIM:102660|ICD9:170.9|SCTID:307609003|UMLS:C0334556 A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton. SNOMEDCT:307609003|UMLS:C1367554|ORPHA:55881|NCIT:C7644|DOID:2775|DOID:2776|MESH:D050398|MESH:C562741|UMLS:C0334556|http://identifiers.org/omim/102660 http://purl.obolibrary.org/obo/MONDO_0002422 adamantinoma|adamantinoma of long bones|long bone adamantinoma|adamantinoma of long bone|adamantinoma, malignant|adamantinoma of long bones (morphologic abnormality)|Extragnathic adamantinoma ordo_disease MONDO:0002423 rectosigmoid junction neoplasm biolink:Disease mondo SCTID:126848003|DOID:2780|UMLS:C0345873|NCIT:C4877 A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. UMLS:C0345873|DOID:2780|SNOMEDCT:126848003|NCIT:C4877 http://purl.obolibrary.org/obo/MONDO_0002423 rectosigmoid junction tumor|rectosigmoid tumor|neoplasm of rectosigmoid junction|tumor of the rectosigmoid junction|rectosigmoid junction neoplasm (disease)|rectosigmoid neoplasm|neoplasm of the rectosigmoid junction|tumor of rectosigmoid junction UBERON:0011265 carpometacarpal joint of digit 1 biolink:AnatomicalEntity mondo A carpometacarpal joint that connects to metacarpal 1. http://purl.obolibrary.org/obo/UBERON_0011265 carpometacarpal joint of pollex|carpometacarpal joint of thumb|carpometacarpal joint of digit I|carpometacarpal joint of the thumb|TMJ|trapeziometacarpal joint NCBITaxon:299071 Ajellomycetaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_299071 HGNC:8582 PAH biolink:OntologyClass mondo http://identifiers.org/hgnc/8582 HGNC:8583 SERPINE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8583 MONDO:0002417 obsolete ethmoid sinus adenoid cystic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002417 MONDO:0002418 ethmoid sinus adenocarcinoma biolink:Disease mondo DOID:2766|UMLS:C1333472|NCIT:C6237 A carcinoma that arises from glandular epithelial cells of the epithelial cell UMLS:C1333472|NCIT:C6237|DOID:2766 http://purl.obolibrary.org/obo/MONDO_0002418 adenocarcinoma of the ethmoid sinus|adenocarcinoma of ethmoid sinus MONDO:0002419 transient tic disorder biolink:Disease mondo ICD10:F95.0|SCTID:56573006|DOID:2768|COHD:4210636|NCIT:C116767|ICD9:307.21 A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. SNOMEDCT:56573006|NCIT:C116767|DOID:2768 http://purl.obolibrary.org/obo/MONDO_0002419 benign Tic disorder of childhood UBERON:0011250 autopod bone biolink:AnatomicalEntity mondo A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. http://purl.obolibrary.org/obo/UBERON_0011250 UBERON:0011252 scent gland biolink:AnatomicalEntity mondo Scent glands are exocrine glands found in most mammals. They produce semi-viscous secretions which contain pheromones and other semiochemical compounds. These odor-messengers indicate information such as status, territory marking, mood, and sexual power. The odor may be subliminal-not consciously detectable. Though it is not their primary function, the salivary glands may also function as scent glands in some animals. http://purl.obolibrary.org/obo/UBERON_0011252 UBERON:0011249 appendicular skeletal system biolink:AnatomicalEntity mondo Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. http://purl.obolibrary.org/obo/UBERON_0011249 HGNC:8592 PAK3 biolink:OntologyClass mondo http://identifiers.org/hgnc/8592 MONDO:0002402 malignant giant cell tumor biolink:Disease mondo NCIT:C4090|UMLS:C0334229|ICDO:8003/3|DOID:2705 A malignant neoplasm characterized by then presence of atypical giant cells. DOID:2705|NCIT:C4090|UMLS:C0334229 http://purl.obolibrary.org/obo/MONDO_0002402 malignant giant cell neoplasm|giant cell tumor, malignant|malignant giant cell tumor|malignant tumor, giant cell type (morphologic abnormality)|malignant tumor, giant cell type MONDO:0002403 synovium cancer biolink:Disease mondo NCIT:C6531|DOID:2706|UMLS:C1334624 A cancer that involves the layer of synovial tissue. UMLS:C1334624|NCIT:C6531|DOID:2706 http://purl.obolibrary.org/obo/MONDO_0002403 cancer of synovial membrane of synovial joint|malignant tumor of the synovium|malignant synovial tumor|malignant neoplasm of layer of synovial tissue|malignant neoplasm of synovium|layer of synovial tissue cancer|malignant neoplasm of synovial membrane of synovial joint|malignant neoplasm of the synovium|malignant synovial neoplasm|malignant tumor of synovium|malignant synovial membrane of synovial joint neoplasm|synovial membrane of synovial joint cancer|malignant layer of synovial tissue neoplasm|cancer of layer of synovial tissue MONDO:0002404 liver hemangioma biolink:Disease mondo SCTID:93469006|DOID:271|UMLS:C0238246|NCIT:C3869 A hemangioma arising from the liver. UMLS:C0238246|NCIT:C3869|DOID:271|SNOMEDCT:93469006 http://purl.obolibrary.org/obo/MONDO_0002404 hepatic angioma|liver hemangioma|liver angioma|hemangioma of the liver|angioma of the liver|hemangioma of liver|hepatic hemangioma|angioma of liver|hemangioma of liver MONDO:0002405 hepatic vascular disease biolink:Disease mondo SCTID:235878005|DOID:272|UMLS:C0400923|ICD9:573.8|NCIT:C35442 A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma. UMLS:C0400923|NCIT:C35442|DOID:272|SNOMEDCT:235878005 http://purl.obolibrary.org/obo/MONDO_0002405 hepatic vascular disorder|liver vascular disorder|vascular disorder of liver MONDO:0002400 synovitis (disease) biolink:Disease mondo DOID:2703|HP:0100769|SCTID:416209007|EFO:0008997|MESH:D013585|GARD:0007722|NCIT:C50766 Inflammation of a synovial membrane. MESH:D013585|NCIT:C50766|SNOMEDCT:416209007|DOID:2703 http://purl.obolibrary.org/obo/MONDO_0002400 inflammation of synovial membrane of synovial joint|synovitis|Synovitides|synovial membrane of synovial joint inflammation MONDO:0002401 malignant tenosynovial giant cell tumor biolink:Disease mondo UMLS:C1266168|NCIT:C6535|ICDO:9252/3|DOID:2704 An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well. UMLS:C1266168|NCIT:C6535|DOID:2704 http://purl.obolibrary.org/obo/MONDO_0002401 malignant tendon sheath giant cell tumor|malignant giant cell neoplasm of tendon sheath|tenosynovial giant cell tumor, malignant|malignant giant cell tumor of the tendon sheath|malignant giant cell tumor of tendon sheath|malignant tendon sheath giant cell neoplasm|giant cell tumour of tendon sheath, malignant|malignant giant cell neoplasm of the tendon sheath|malignant tenosynovial giant cell tumor UBERON:0011241 ethmoid region biolink:AnatomicalEntity mondo The most anterior region of the braincase. Provides structural support for peripheral olfactory organ. http://purl.obolibrary.org/obo/UBERON_0011241 UBERON:0001826 nasal cavity mucosa biolink:AnatomicalEntity mondo The mucous membrane that lines the nasal cavity[MP]. http://purl.obolibrary.org/obo/UBERON_0001826 nasal mucosa|tunica mucosa nasi|mucosa of nose|tunica mucosa nasalis|mucous membrane of nose UBERON:0001825 paranasal sinus biolink:AnatomicalEntity mondo the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity http://purl.obolibrary.org/obo/UBERON_0001825 nasal sinus|sinus UBERON:0001828 gingiva biolink:AnatomicalEntity mondo The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]. http://purl.obolibrary.org/obo/UBERON_0001828 gum tissue|gums|gum|gingival mucosa UBERON:0001827 secretion of lacrimal gland biolink:AnatomicalEntity mondo Aqueous substance secreted by the lacrimal gland. http://purl.obolibrary.org/obo/UBERON_0001827 tear fluid|tear|tears|lacrimal fluid|lacrimal gland secretion|lacrimal secretion UBERON:0001821 sebaceous gland biolink:AnatomicalEntity mondo A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. http://purl.obolibrary.org/obo/UBERON_0001821 glandula sebacea|sebaceous follicle|glandula sebaceae UBERON:0001824 mucosa of larynx biolink:AnatomicalEntity mondo The mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx. http://purl.obolibrary.org/obo/UBERON_0001824 tunica mucosa laryngis|larynx mucous membrane|laryngeal mucosa|laryngeal mucous membrane|mucosa of organ of larynx|organ mucosa of larynx|mucous membrane of larynx|larynx mucosa|larynx mucosa of organ|larynx organ mucosa UBERON:0001823 nasal cartilage biolink:AnatomicalEntity mondo One of the cartilage structures in the nose that provide form and support[WP]. http://purl.obolibrary.org/obo/UBERON_0001823 cartilage of nose UBERON:0001829 major salivary gland biolink:AnatomicalEntity mondo One of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands. http://purl.obolibrary.org/obo/UBERON_0001829 UBERON:0001831 parotid gland biolink:AnatomicalEntity mondo The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001831 parotid|glandula parotidea UBERON:0001830 minor salivary gland biolink:AnatomicalEntity mondo One of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands[MP]. http://purl.obolibrary.org/obo/UBERON_0001830 UBERON:0001815 lumbosacral nerve plexus biolink:AnatomicalEntity mondo An arrangement of nerve fibers, running from the spine that travels to the pelvic appendage where it innervates skin and muscle. http://purl.obolibrary.org/obo/UBERON_0001815 lumbosacral plexus|plexus lumbosacralis|plexus lumbosacralis UBERON:0001814 brachial nerve plexus biolink:AnatomicalEntity mondo An arrangement of nerve fibers, running from the spine where it proceeds through the neck then the axilla and into the arm where it innervates skin and muscle. [WP,modified]. http://purl.obolibrary.org/obo/UBERON_0001814 plexus brachialis|brachial plexus GO:0097485 neuron projection guidance biolink:OntologyClass mondo The process in which the migration of a neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues. http://purl.obolibrary.org/obo/GO_0097485 neuronal cell projection guidance|neuron protrusion guidance|neurite guidance|neuron process guidance UBERON:0001817 lacrimal gland biolink:AnatomicalEntity mondo The lacrimal glands are paired almond-shaped glands, located in or near the orbital region, that secrete the aqueous layer of the tear film.[WP]. http://purl.obolibrary.org/obo/UBERON_0001817 glandula lacrimalis|preorbital gland|tear gland|lacrimal-preorbital gland|glandula praeorbitalis UBERON:0001816 autonomic nerve plexus biolink:AnatomicalEntity mondo A nerve plexus that is part of an autonomic nervous system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001816 plexus visceralis|visceral nerve plexus|autonomic plexus|plexus nervosus visceralis|visceral plexus|plexus autonomicus UBERON:0001811 conjunctiva biolink:AnatomicalEntity mondo the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball http://purl.obolibrary.org/obo/UBERON_0001811 conjunctivae|wall of conjunctival sac|conjunctivas|tunica conjunctiva UBERON:0001810 nerve plexus biolink:AnatomicalEntity mondo Anatomical junction where subdivisions of two or more neural trees interconnect with one another to form a network through which nerve fibers of the constituent nerve trees become regrouped; together with other nerve plexuses, nerves and ganglia, it constitutes the peripheral nervous system. Examples: cervical nerve plexus, brachial nerve plexus, sacral nerve plexus[FMA]. http://purl.obolibrary.org/obo/UBERON_0001810 plexus UBERON:0001813 spinal nerve plexus biolink:AnatomicalEntity mondo an intermingling of fiber fascicles from adjacent spinal nerves to form a network. http://purl.obolibrary.org/obo/UBERON_0001813 plexus of spinal nerves|spinal nerve plexus|somatic nerve plexus|plexus nervorum spinalium UBERON:0001818 tarsal gland biolink:AnatomicalEntity mondo A modified lobulated sebaceous gland at the rim of an eyelid, responsible for the supply of meibum. http://purl.obolibrary.org/obo/UBERON_0001818 gland of Meibom|Meibomian gland|tarsoconjunctival gland|palpebral gland|glandula tarsales UBERON:0001820 sweat gland biolink:AnatomicalEntity mondo any of the coil glands of the skin that secrete sweat http://purl.obolibrary.org/obo/UBERON_0001820 glandula sudorifera|sudoriparous gland|sudoriferous gland UBERON:0001804 capsule of lens biolink:AnatomicalEntity mondo the elastic, clear, membrane-like structure, that is outer most layer of the lens http://purl.obolibrary.org/obo/UBERON_0001804 lens capsule|capsula lentis UBERON:0001803 epithelium of lens biolink:AnatomicalEntity mondo A layer of epithelial cells that is part of the eye. http://purl.obolibrary.org/obo/UBERON_0001803 eye lens epithelium|lens epithelium|lens epithelial tissue|eye lens epithelial tissue|epithelial tissue of lens|epithelium lentis|epithelial tissue of eye lens|epithelium of eye lens UBERON:0001806 sympathetic ganglion biolink:AnatomicalEntity mondo A ganglion of the sympathetic nervous system. Examples: paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia http://purl.obolibrary.org/obo/UBERON_0001806 ganglion sympatheticum|sympathetic part of autonomic division of nervous system ganglion|ganglion of sympathetic part of autonomic division of nervous system|ganglion sympathicum|sympathetic nervous system ganglion|ganglion of sympathetic nervous system UBERON:0001805 autonomic ganglion biolink:AnatomicalEntity mondo ganglion that has dendrites that form a junction between autonomic nerves originating from the central nervous system and autonomic nerves innervating their target organs in the periphery. There are two subtypes, sympathetic ganglion and parasympathetic ganglion. http://purl.obolibrary.org/obo/UBERON_0001805 ganglion of visceral nervous system|autonomic nervous system ganglion|ganglion autonomicum|ganglion of autonomic nervous system|visceral nervous system ganglion UBERON:0001800 sensory ganglion biolink:AnatomicalEntity mondo The clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells. http://purl.obolibrary.org/obo/UBERON_0001800 ganglion sensorium UBERON:0001802 posterior segment of eyeball biolink:AnatomicalEntity mondo any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) http://purl.obolibrary.org/obo/UBERON_0001802 segmentum posterius (bulbus oculi)|posterior segment of the eye|posterior segment of eye|eye posterior segment|posterior segment eye|posterior eye segment|segmentum posterius bulbi oculi UBERON:0001801 anterior segment of eyeball biolink:AnatomicalEntity mondo any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) http://purl.obolibrary.org/obo/UBERON_0001801 eye anterior segment|segmentum anterius (bulbus oculi)|segmentum anterius bulbi oculi|anterior segment of the eye|anterior segment of eye|anterior segment eye|anterior eye segment UBERON:0001808 parasympathetic ganglion biolink:AnatomicalEntity mondo Ganglion containing neurons that receive innervation from parasympathetic neurons in the central nervous system and subserves parasympathetic functions through innervation of smooth muscle, cardiac muscle and glands. http://purl.obolibrary.org/obo/UBERON_0001808 ganglion parasympathicum CHEBI:48278 serotonergic drug biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_48278 serotonergic drugs|serotonergic agents|serotonin drugs CHEBI:131530 pyridoxal(1+) biolink:ChemicalSubstance mondo A pyridinium ion obtained by protonation of the ring nitrogen of pyridoxal. http://purl.obolibrary.org/obo/CHEBI_131530 pyridoxal cation|4-formyl-3-hydroxy-5-(hydroxymethyl)-2-methylpyridin-1-ium GO:0097458 obsolete neuron part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a neuron, the basic cellular unit of nervous tissue. A typical neuron consists of a cell body (often called the soma), an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. http://purl.obolibrary.org/obo/GO_0097458 UBERON:0001869 cerebral hemisphere biolink:AnatomicalEntity mondo One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA] http://purl.obolibrary.org/obo/UBERON_0001869 hemispherium cerebri|hemisphere|nucleus amygdaloideus medialis|medial amygdalar nucleus|cerebrum|nucleus medialis amygdalae|hemispheric regions UBERON:0001866 sebum biolink:AnatomicalEntity mondo Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. http://purl.obolibrary.org/obo/UBERON_0001866 UBERON:0001868 skin of chest biolink:AnatomicalEntity mondo A zone of skin that is part of a chest [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001868 front of thorax zone of skin|chest zone of skin|zone of skin of pectoral part of chest|chest skin|zone of skin of anterolateral part of thorax|anterior thoracic region zone of skin|zone of skin of anterior part of thorax|zone of skin of chest|zone of skin of front of thorax|zone of skin of anterior thoracic region|anterolateral part of thorax zone of skin|zone of skin of anterior chest UBERON:0001867 cartilage of external ear biolink:AnatomicalEntity mondo A cartilage that is part of a external ear [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001867 external ear cartilage GO:0012505 endomembrane system biolink:OntologyClass mondo A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. http://purl.obolibrary.org/obo/GO_0012505 GO:0012506 vesicle membrane biolink:OntologyClass mondo The lipid bilayer surrounding any membrane-bounded vesicle in the cell. http://purl.obolibrary.org/obo/GO_0012506 GO:0012501 programmed cell death biolink:OntologyClass mondo A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. http://purl.obolibrary.org/obo/GO_0012501 PCD|nonapoptotic programmed cell death|non-apoptotic programmed cell death|caspase-independent cell death|caspase-independent apoptosis|RCD|regulated cell death UBERON:0001872 parietal lobe biolink:AnatomicalEntity mondo Upper central part of the cerebral hemisphere. (MSH) http://purl.obolibrary.org/obo/UBERON_0001872 lobus parietalis|parietal region|regio parietalis UBERON:0001871 temporal lobe biolink:AnatomicalEntity mondo Lower lateral part of the cerebral hemisphere. (MSH) http://purl.obolibrary.org/obo/UBERON_0001871 temporal cortex|lobus temporalis UBERON:0001870 frontal cortex biolink:AnatomicalEntity mondo Anterior portion of the neocortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally[NIFSTD,modified]. http://purl.obolibrary.org/obo/UBERON_0001870 cortex of frontal lobe|gray matter of frontal lobe|frontal neocortex|frontal lobe cortex|grey matter of frontal lobe HGNC:8507 OSMR biolink:OntologyClass mondo http://identifiers.org/hgnc/8507 UBERON:0001862 vestibular labyrinth biolink:AnatomicalEntity mondo The part of the membranous labyrinth that includes the utricle and saccule lodged within the vestibule and the semicircular ducts lodged eccentrically in the corresponding canals. http://purl.obolibrary.org/obo/UBERON_0001862 vestibular apparatus|labyrinthus vestibularis|vestibular component|inner ear vestibular component UBERON:0001860 endolymphatic duct biolink:AnatomicalEntity mondo the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac http://purl.obolibrary.org/obo/UBERON_0001860 ductus endolymphaticus|ductus endolymphaticus UBERON:0001848 auricular cartilage biolink:AnatomicalEntity mondo cartilage of the pinna and much of the external ear canal. http://purl.obolibrary.org/obo/UBERON_0001848 pinna cartilage|cartilage of pinna UBERON:0001849 membranous labyrinth biolink:AnatomicalEntity mondo Organ with organ cavity which consists of the vestibular labyrinth and the cochlear labyrinth. The membranous labyrinth is lodged within the bony labyrinth and has the same general form; it is, however, considerably smaller and is partly separated from the bony walls by a quantity of fluid, the perilymph.[FMA, WP] http://purl.obolibrary.org/obo/UBERON_0001849 labyrinthus membranaceus UBERON:0001844 cochlea biolink:AnatomicalEntity mondo the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. [WP,modified]. http://purl.obolibrary.org/obo/UBERON_0001844 cochlear duct|cochleae|lagenas|cochlear part of bony labyrinth|cochlear organ|lagena UBERON:0001846 internal ear biolink:AnatomicalEntity mondo Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation. http://purl.obolibrary.org/obo/UBERON_0001846 auris interna|otocyst|inner ear|labyrinth CHEBI:24261 glucocorticoid biolink:ChemicalSubstance mondo Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/CHEBI_24261 glucocorticoids HGNC:8512 OTC biolink:OntologyClass mondo http://identifiers.org/hgnc/8512 HGNC:8515 OTOF biolink:OntologyClass mondo http://identifiers.org/hgnc/8515 HGNC:8516 OTOG biolink:OntologyClass mondo http://identifiers.org/hgnc/8516 UBERON:0001851 cortex biolink:AnatomicalEntity mondo Outermost layer of an organ[WP]. http://purl.obolibrary.org/obo/UBERON_0001851 cortex of organ|cortex UBERON:0001850 lacrimal drainage system biolink:AnatomicalEntity mondo A collection of channels that connects the conjunctival sac with the nasal cavity, encompassing the lacrimal ducts, the lacrimal sac and the naso-lacrimal duct. http://purl.obolibrary.org/obo/UBERON_0001850 tear duct|lacrimal duct UBERON:0001837 duct of salivary gland biolink:AnatomicalEntity mondo The duct of a salivary gland. http://purl.obolibrary.org/obo/UBERON_0001837 secretory duct|salivary duct|salivary gland duct UBERON:0001836 saliva biolink:AnatomicalEntity mondo A fluid produced in the oral cavity by salivary glands, typically used in predigestion, but also in other functions. http://purl.obolibrary.org/obo/UBERON_0001836 saliva atomaris|sailva normalis|saliva molecularis|salivary gland secretion UBERON:0001839 bony labyrinth biolink:AnatomicalEntity mondo A system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001839 osseous labyrinth|labyrinthus osseus|osseus labyrinth UBERON:0001838 sublingual duct biolink:AnatomicalEntity mondo A duct of a sublingual gland. http://purl.obolibrary.org/obo/UBERON_0001838 UBERON:0001833 lip biolink:AnatomicalEntity mondo One of the two fleshy folds which surround the opening of the mouth. http://purl.obolibrary.org/obo/UBERON_0001833 labia oris|lips UBERON:0001832 sublingual gland biolink:AnatomicalEntity mondo the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland http://purl.obolibrary.org/obo/UBERON_0001832 ductus sublingualis|sublingual salivary gland|submaxillary gland|Rivinus gland|glandula sublingualis|Rivinus' gland UBERON:0001835 lower lip biolink:AnatomicalEntity mondo Lip that covers the lower portion of the mouth.[TAO]. http://purl.obolibrary.org/obo/UBERON_0001835 lower jaw lip|labium inferius oris UBERON:0001834 upper lip biolink:AnatomicalEntity mondo Lip that covers the upper portion of the mouth.[TAO]. http://purl.obolibrary.org/obo/UBERON_0001834 upper jaw lip|labium superius oris HGNC:8527 OXCT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8527 HP:0008669 Abnormal spermatogenesis biolink:PhenotypicFeature mondo UMLS:C0520933|SNOMEDCT_US:4529005|UMLS:C4020789 Incomplete maturation or aberrant formation of the male gametes. http://purl.obolibrary.org/obo/HP_0008669 Impaired spermatogenesis|Abnormal sperm development UBERON:0001840 semicircular canal biolink:AnatomicalEntity mondo One of three half-circular, interconnected tubes located inside each ear[WP]. http://purl.obolibrary.org/obo/UBERON_0001840 scc|canalis semicircularis|semicircular canals|semicircular ducts|ductus semicirculares HGNC:8522 OTX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8522 HP:0006000 Ureteral obstruction biolink:PhenotypicFeature mondo Fyler:4492|UMLS:C0041956|MSH:D014517|SNOMEDCT_US:20018005 Obstruction of the flow of urine through the ureter. http://purl.obolibrary.org/obo/HP_0006000 GO:0048469 cell maturation biolink:OntologyClass mondo A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. http://purl.obolibrary.org/obo/GO_0048469 functional differentiation GO:0048468 cell development biolink:OntologyClass mondo The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/GO_0048468 terminal differentiation GO:0061448 connective tissue development biolink:OntologyClass mondo The progression of a connective tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0061448 GO:1903649 regulation of cytoplasmic transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cytoplasmic transport. http://purl.obolibrary.org/obo/GO_1903649 regulation of cytoplasmic streaming HGNC:23089 SLC13A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/23089 HGNC:23088 SLC10A7 biolink:OntologyClass mondo http://identifiers.org/hgnc/23088 GO:1903650 negative regulation of cytoplasmic transport biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic transport. http://purl.obolibrary.org/obo/GO_1903650 downregulation of cytoplasmic transport|inhibition of cytoplasmic transport|downregulation of cytoplasmic streaming|inhibition of cytoplasmic streaming|down-regulation of cytoplasmic transport|negative regulation of cytoplasmic streaming|down-regulation of cytoplasmic streaming|down regulation of cytoplasmic transport|down regulation of cytoplasmic streaming HGNC:23096 SLC29A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/23096 HGNC:23094 SLC16A12 biolink:OntologyClass mondo http://identifiers.org/hgnc/23094 GO:1903651 positive regulation of cytoplasmic transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cytoplasmic transport. http://purl.obolibrary.org/obo/GO_1903651 up-regulation of cytoplasmic transport|up-regulation of cytoplasmic streaming|up regulation of cytoplasmic transport|up regulation of cytoplasmic streaming|activation of cytoplasmic transport|positive regulation of cytoplasmic streaming|upregulation of cytoplasmic transport|upregulation of cytoplasmic streaming|activation of cytoplasmic streaming MONDO:0014499 intellectual disability, autosomal recessive 46 biolink:Disease mondo OMIM:616116|UMLS:C4015283 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene. UMLS:C4015283|http://identifiers.org/omim/616116 http://purl.obolibrary.org/obo/MONDO_0014499 intellectual disability, autosomal recessive 46|MRT46|mental retardation, autosomal recessive 46; MRT46|intellectual disability, autosomal recessive 46; MRT46|NDST1 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1|intellectual disability, autosomal recessive type 46|mental retardation, autosomal recessive type 46|mental retardation, autosomal recessive 46 MONDO:0014498 familial cold autoinflammatory syndrome 4 biolink:Disease mondo Orphanet:576349|OMIM:616115|DOID:0090065|UMLS:C4015276|ICD10:L50.2 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene. UMLS:C4015276|DOID:0090065|http://identifiers.org/omim/616115|ORPHA:576349 http://purl.obolibrary.org/obo/MONDO_0014498 familial cold autoinflammatory syndrome type 4|familial cold autoinflammatory syndrome 4; FCAS4|NLRC4 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome 4|FCAS4|NLRC4-related familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome caused by mutation in NLRC4 ordo_disease MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency biolink:Disease mondo GARD:0012316|UMLS:C4015214|NCIT:C126341|OMIM:616100|Orphanet:436159|ICD10:D47.9 A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V. ORPHA:436159|UMLS:C4015214|NCIT:C126341|http://identifiers.org/omim/616100 http://purl.obolibrary.org/obo/MONDO_0014493 ALPS type V|autoimmune lymphoproliferative syndrome, type V; ALPS5|ALPS type 5|ALPS due to CTLA4 haploinsuffiency|chai|CTLA4 haploinsufficiency|autoimmune lymphoproliferative syndrome, type V|autoimmune lymphoproliferative syndrome, type 5|CTLA4 haploinsufficiency with autoimmune infiltration|autoimmune lymphoproliferative syndrome type V|autoimmune lymphoproliferative syndrome type 5|ALPS5|CTLA-4 haploinsufficiency with autoimmune infiltration disease gard_rare|ordo_disease MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome biolink:Disease mondo Orphanet:420686|UMLS:C4015202|OMIM:616099|SCTID:764108000|ICD10:Q82.8 Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. UMLS:C4015202|SNOMEDCT:764108000|http://identifiers.org/omim/616099|ORPHA:420686 http://purl.obolibrary.org/obo/MONDO_0014492 palmoplantar keratoderma and woolly hair|palmoplantar keratoderma and woolly hair; PPKWH|KWWH type IV|woolly hair-palmoplantar hyperkeratosis syndrome|PPKWH|keratoderma with woolly hair type IV ordo_disease MONDO:0014491 immunodeficiency 37 biolink:Disease mondo UMLS:C4015195|OMIM:616098 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene. UMLS:C4015195|http://identifiers.org/omim/616098 http://purl.obolibrary.org/obo/MONDO_0014491 BCL10 primary immunodeficiency disease|immunodeficiency 37; IMD37|IMD37|primary immunodeficiency disease caused by mutation in BCL10|immunodeficiency 37|immunodeficiency type 37 MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency biolink:Disease mondo Orphanet:438075|ICD10:E88.8|UMLS:C4015186|OMIM:616095 UMLS:C4015186|http://identifiers.org/omim/616095|ORPHA:438075 http://purl.obolibrary.org/obo/MONDO_0014490 monocarboxylate transporter 1 deficiency|MCT1D|monocarboxylate transporter 1 deficiency; MCT1D ordo_disease MONDO:0014497 polyendocrine-polyneuropathy syndrome biolink:Disease mondo Orphanet:453533|OMIM:616113|UMLS:C4015261 UMLS:C4015261|ORPHA:453533|http://identifiers.org/omim/616113 http://purl.obolibrary.org/obo/MONDO_0014497 PEPNS|polyendocrine-polyneuropathy syndrome|polyendocrine-polyneuropathy syndrome; PEPNS ordo_disease MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 biolink:Disease mondo OMIM:616111|UMLS:C4015253|DOID:0080118 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene. DOID:0080118|UMLS:C4015253|http://identifiers.org/omim/616111 http://purl.obolibrary.org/obo/MONDO_0014496 mitochondrial complex III deficiency caused by mutation in UQCC3|MC3DN9|mitochondrial complex III deficiency, nuclear type 9|mitochondrial complex III deficiency, nuclear type 9; MC3DN9|mitochondrial Complex 3 deficiency, nuclear type 9|UQCC3 mitochondrial complex III deficiency MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C4015242|Orphanet:436245|OMIM:616108 ORPHA:436245|UMLS:C4015242|http://identifiers.org/omim/616108 http://purl.obolibrary.org/obo/MONDO_0014495 RDJCSS|retinal dystrophy-juvenile cataract-short stature syndrome|retinal dystrophy, juvenile cataracts, and short stature syndrome; RDJCSS|retinal dystrophy, juvenile cataracts, and short stature syndrome ordo_disease MONDO:0014494 psoriasis 15, pustular, susceptibility to biolink:Disease mondo OMIM:616106 Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene. http://identifiers.org/omim/616106 http://purl.obolibrary.org/obo/MONDO_0014494 psoriasis 15, pustular, susceptibility to; PSORS15|susceptibility to pustular psoriasis 15|AP1S3 generalized pustular psoriasis|generalized pustular psoriasis caused by mutation in AP1S3|psoriasis 15, pustular, susceptibility to|PSORS15 predisposition UBERON:0001902 epithelium of small intestine biolink:AnatomicalEntity mondo An epithelium that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001902 epithelial tissue of small intestine|small intestine epithelial tissue|small intestine epithelium|small intestinal epithelium|mid intestine epithelium|epithelium of small bowel|epithelial tissue of small bowel|small bowel epithelial tissue|small bowel epithelium UBERON:0001905 pineal body biolink:AnatomicalEntity mondo A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399). http://purl.obolibrary.org/obo/UBERON_0001905 frontal organ|pineal gland (Galen)|Pi|glandula pinealis|pineal gland|pineal organ|conarium|epiphysis cerebri|stirnorgan|pineal|epiphysis|corpus pineale UBERON:0001901 epithelium of trachea biolink:AnatomicalEntity mondo the epithelial lining of the trachea which contains numerous ciliated cells http://purl.obolibrary.org/obo/UBERON_0001901 trachea epithelial tissue|epithelial tissue of windpipe|epithelium of windpipe|trachea epithelium|windpipe epithelium|epithelial tissue of trachea|tracheal epithelium|windpipe epithelial tissue HGNC:23063 NUDT15 biolink:OntologyClass mondo http://identifiers.org/hgnc/23063 HGNC:23068 TRAPPC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/23068 UBERON:0001908 optic tract biolink:AnatomicalEntity mondo Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. http://purl.obolibrary.org/obo/UBERON_0001908 optic tracts|optic lemniscus|tractus opticus|visual pathway|tractus optici GO:1901019 regulation of calcium ion transmembrane transporter activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of calcium ion transmembrane transporter activity. http://purl.obolibrary.org/obo/GO_1901019 HP:0008609 Morphological abnormality of the middle ear biolink:PhenotypicFeature mondo UMLS:C1857456 An abnormality of the morphology or structure of the middle ear. http://purl.obolibrary.org/obo/HP_0008609 Middle ear malformation|Morphological abnormality of the middle ear GO:1901020 negative regulation of calcium ion transmembrane transporter activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transporter activity. http://purl.obolibrary.org/obo/GO_1901020 inhibition of calcium ion transmembrane transporter activity|down-regulation of calcium ion transmembrane transporter activity|downregulation of calcium ion transmembrane transporter activity|down regulation of calcium ion transmembrane transporter activity NCBITaxon:554915 Amoebozoa organism taxon mondo PMID:30257078|PMID:23020233|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_554915 NCBITaxon:1933187 Rift Valley fever phlebovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1933187 GO:1901021 positive regulation of calcium ion transmembrane transporter activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transporter activity. http://purl.obolibrary.org/obo/GO_1901021 upregulation of calcium ion transmembrane transporter activity|up regulation of calcium ion transmembrane transporter activity|up-regulation of calcium ion transmembrane transporter activity|activation of calcium ion transmembrane transporter activity HGNC:11094 SNAI2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11094 HGNC:11098 SMARCA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11098 UBERON:5106048 digit 1 digitopodial skeleton biolink:AnatomicalEntity mondo A subdivision of the skeleton of the autopod consisting of the phalanges of digit 1 plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_5106048 digit 1 skeleton|digit 1|digit I digitopodial skeleton HGNC:23041 PDSS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/23041 HGNC:23044 NANOS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23044 HGNC:11067 SLC7A9 biolink:OntologyClass mondo http://identifiers.org/hgnc/11067 HGNC:11065 SLC7A7 biolink:OntologyClass mondo http://identifiers.org/hgnc/11065 NCBITaxon:12506 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_12506 HGNC:23056 ALG3 biolink:OntologyClass mondo http://identifiers.org/hgnc/23056 UBERON:5106052 digit 5 digitopodial skeleton biolink:AnatomicalEntity mondo A subdivision of the skeleton of the autopod consisting of the phalanges of digit 5 plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_5106052 digit 5|digit 5 skeleton|digit V digitopodial skeleton HGNC:11079 SLC9A6 biolink:OntologyClass mondo http://identifiers.org/hgnc/11079 HGNC:11073 SLC9A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11073 HGNC:11071 SLC9A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11071 SO:0000400 sequence_attribute biolink:SequenceFeature mondo An attribute describes a quality of sequence. http://purl.obolibrary.org/obo/SO_0000400 sequence attribute HGNC:11075 SLC9A3R1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11075 SO:0000401 gene_attribute biolink:SequenceFeature mondo An attribute describing a gene. http://purl.obolibrary.org/obo/SO_0000401 gene attribute MONDO:0002457 Treacher-Collins syndrome biolink:Disease mondo NCIT:C75018|DOID:2908|Orphanet:861|GARD:0009124|MedDRA:10051456|ICD10:Q75.4|OMIMPS:154500|UMLS:C0265241|SCTID:62767009 Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. ORPHA:861|DOID:2908|SNOMEDCT:62767009|UMLS:C0265241|NCIT:C75018|MEDDRA:10051456 http://purl.obolibrary.org/obo/MONDO_0002457 Franceschetti syndrome|mandibulofacial dysostosis without limb anomalies|Treacher Collins syndrome|TCOF|MFD1|Franceschetti-Klein syndrome|TCS|mandibulofacial dysostosis ordo_malformation_syndrome|prototype_pattern MONDO:0002458 obsolete acute pancreatitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002458 MONDO:0002459 type IV hypersensitivity disease biolink:Disease mondo ICD10:C88.9|UMLS:C0020522|DOID:2916|NCIT:C3115 A disease that has its basis in the disruption of type IV hypersensitivity. DOID:2916|NCIT:C3115|UMLS:C0020522 http://purl.obolibrary.org/obo/MONDO_0002459 type IV hypersensitivity reaction|delayed hypersensitivity reaction|DTH|type 4 hypersensitivity reaction|delayed-type hypersensitivity response|immunoproliferative disease|type IV hypersensitivity|delayed-type hypersensitivity|disorder of type IV hypersensitivity|disorder of type IV hypersensitivity|hypersensitivity reaction type IV disease HGNC:23026 GNPTG biolink:OntologyClass mondo http://identifiers.org/hgnc/23026 MONDO:0002453 retrocochlear disease biolink:Disease mondo UMLS:C0035352|DOID:2889|MESH:D012181 Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss. UMLS:C0035352|DOID:2889|MESH:D012181 http://purl.obolibrary.org/obo/MONDO_0002453 HGNC:8490 ORC4 biolink:OntologyClass mondo http://identifiers.org/hgnc/8490 MONDO:0002454 thyroid adenoma (disease) biolink:Disease mondo UMLS:C0151468|DOID:2891|SCTID:255033000|HP:0000854 A adenoma that involves the thyroid gland. DOID:2891|UMLS:C0151468|SNOMEDCT:255033000 http://purl.obolibrary.org/obo/MONDO_0002454 thyroid adenoma|thyroid gland adenoma|adenoma of thyroid gland MONDO:0002455 exocervical carcinoma biolink:Disease mondo DOID:2892|UMLS:C1299238|NCIT:C7453|SCTID:372100004 A carcinoma that arises from the squamous epithelium of the exocervix. NCIT:C7453|DOID:2892|UMLS:C1299238|SNOMEDCT:372100004 http://purl.obolibrary.org/obo/MONDO_0002455 exocervix carcinoma|exocervical cancer|exocervical carcinoma|carcinoma of the exocervix|carcinoma of exocervix|carcinoma of ectocervix|ectocervix carcinoma MONDO:0026426 X inactivation, familial skewed, 2 biolink:Disease mondo OMIM:300179 http://identifiers.org/omim/300179 http://purl.obolibrary.org/obo/MONDO_0026426 X INACTIVATION, FAMILIAL SKEWED, 2; SXI2|X-inactivation, familial skewed, 2 MONDO:0002456 obsolete cervix carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002456 MONDO:0002450 prostatic adenoma biolink:Disease mondo UMLS:C0520477|ICD9:600.20|NCIT:C4795|DOID:2883|SCTID:21173002 Focal benign glandular hyperplasia in the prostate gland. DOID:2883|UMLS:C0520477|NCIT:C4795|SNOMEDCT:21173002 http://purl.obolibrary.org/obo/MONDO_0002450 benign adenoma of prostate|adenoma of prostate|prostate adenoma|prostate gland adenoma|adenoma - prostate|adenoma of the prostate UBERON:0035286 lateral wall of oropharynx biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035286 UBERON:0035289 axillary tail of breast biolink:AnatomicalEntity mondo An extension of the tissue of the breast which extends into the axilla. http://purl.obolibrary.org/obo/UBERON_0035289 axillary tail of Spence|axillary tail|processus axillaris (glandula mammaria)|axillary process|tail of Spence MONDO:0002451 benign prostate phyllodes tumor biolink:Disease mondo NCIT:C5532|DOID:2885|UMLS:C1332535 A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells. DOID:2885|NCIT:C5532|UMLS:C1332535 http://purl.obolibrary.org/obo/MONDO_0002451 benign prostate phyllodes tumor|prostate phyllodes tumor|benign phyllodes neoplasm of prostate|benign phyllodes neoplasm of the prostate|prostate phyllodes tumor, benign|phyllodes neoplasm of the prostate|benign phyllodes tumor of prostate|benign phyllodes tumor of the prostate|benign prostate phyllodes neoplasm MONDO:0002452 prostate leiomyoma biolink:Disease mondo UMLS:C1335510|DOID:2887|NCIT:C5544 A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. DOID:2887|NCIT:C5544|UMLS:C1335510 http://purl.obolibrary.org/obo/MONDO_0002452 leiomyoma of the prostate|leiomyoma of prostate gland|prostate leiomyoma|prostate gland leiomyoma|prostatic leiomyoma|leiomyoma of prostate MONDO:0014446 Bardet-Biedl syndrome 18 biolink:Disease mondo ICD10:Q87.89|OMIM:615995|DOID:0110140|UMLS:C3806174 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. DOID:0110140|UMLS:C3806174|http://identifiers.org/omim/615995 http://purl.obolibrary.org/obo/MONDO_0014446 BBIP1 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 18|Bardet-Biedl syndrome caused by mutation in BBIP1|Bardet-Biedl syndrome 18|BBS18|Bardet-Biedl syndrome 18; BBS18 HGNC:11049 SLC6A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11049 MONDO:0014445 Bardet-Biedl syndrome 17 biolink:Disease mondo DOID:0110139|UMLS:C3714980|OMIM:615994|ICD10:Q87.89 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. DOID:0110139|http://identifiers.org/omim/615994|UMLS:C3714980 http://purl.obolibrary.org/obo/MONDO_0014445 BBS17|LZTFL1 Bardet-Biedl syndrome|Bardet-Biedl syndrome 17|Bardet-Biedl syndrome caused by mutation in LZTFL1|Bardet-Biedl syndrome type 17|Bardet-Biedl syndrome 17; BBS17 GO:2000064 regulation of cortisol biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cortisol biosynthetic process. http://purl.obolibrary.org/obo/GO_2000064 regulation of cortisol synthesis|regulation of cortisol anabolism|regulation of cortisol formation|regulation of cortisol biosynthesis HGNC:11048 SLC6A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11048 MONDO:0014444 Bardet-Biedl syndrome 16 biolink:Disease mondo OMIM:615993|DOID:0110138|UMLS:C3889474|ICD10:Q87.89 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. UMLS:C3889474|http://identifiers.org/omim/615993|DOID:0110138 http://purl.obolibrary.org/obo/MONDO_0014444 Bardet-Biedl syndrome 16|BBS16|SDCCAG8 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 16|Bardet-Biedl syndrome 16; BBS16|Bardet-Biedl syndrome caused by mutation in SDCCAG8 clingen GO:2000065 negative regulation of cortisol biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cortisol biosynthetic process. http://purl.obolibrary.org/obo/GO_2000065 negative regulation of cortisol biosynthesis|negative regulation of cortisol synthesis|negative regulation of cortisol anabolism|negative regulation of cortisol formation GO:2000066 positive regulation of cortisol biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cortisol biosynthetic process. http://purl.obolibrary.org/obo/GO_2000066 positive regulation of cortisol formation|positive regulation of cortisol biosynthesis|positive regulation of cortisol synthesis|positive regulation of cortisol anabolism MONDO:0014443 Bardet-Biedl syndrome 15 biolink:Disease mondo OMIM:615992|DOID:0110137|UMLS:C3150127|ICD10:Q87.89 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. http://identifiers.org/omim/615992|UMLS:C3150127|DOID:0110137 http://purl.obolibrary.org/obo/MONDO_0014443 Bardet-Biedl syndrome 15|BBS15|Bardet-Biedl syndrome type 15|WDPCP Bardet-Biedl syndrome|Bardet-Biedl syndrome 15; BBS15|Bardet-Biedl syndrome caused by mutation in WDPCP MONDO:0014449 congenital analbuminemia biolink:Disease mondo ICD10:R77.0|UMLS:C4305253|SCTID:718721006|GARD:0013056|OMIM:616000|Orphanet:86816|NCIT:C124851 Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA). http://identifiers.org/omim/616000|NCIT:C124851|UMLS:C4305253|SNOMEDCT:718721006|ORPHA:86816 http://purl.obolibrary.org/obo/MONDO_0014449 analbuminemia|ANALBA|analbuminemia; ANALBA ordo_disease|gard_rare MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic biolink:Disease mondo NCIT:C131813|MESH:D050010|SCTID:237547004|OMIM:615999 An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4. NCIT:C131813|SNOMEDCT:237547004|MESH:D050010|http://identifiers.org/omim/615999 http://purl.obolibrary.org/obo/MONDO_0014448 hyperthyroxinemia, familial dysalbuminemic; FDAH|familial Dysalbuminemic hyperthyroxinemia|FDAH|euthyroid hyperthyroxinemia 1|familial Dysalbuminemic hyperthyroidism|FDH|hyperthyroxinemia, familial Dysalbuminemic MONDO:0014447 Bardet-Biedl syndrome 19 biolink:Disease mondo UMLS:C3889475|OMIM:615996|ICD10:Q87.89|DOID:0110141 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. DOID:0110141|UMLS:C3889475|http://identifiers.org/omim/615996 http://purl.obolibrary.org/obo/MONDO_0014447 Bardet-Biedl syndrome 19; BBS19|Bardet-Biedl syndrome type 19|Bardet-Biedl syndrome caused by mutation in IFT27|Bardet-Biedl syndrome 19|BBS19|IFT27 Bardet-Biedl syndrome HGNC:11040 SLC5A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/11040 MONDO:0014442 Bardet-Biedl syndrome 14 biolink:Disease mondo DOID:0110136|MESH:C567141|OMIM:615991|ICD10:Q87.89|UMLS:C2673874 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. UMLS:C2673874|http://identifiers.org/omim/615991|MESH:C567141|DOID:0110136 http://purl.obolibrary.org/obo/MONDO_0014442 Bardet-Biedl syndrome 14|Bardet-Biedl syndrome type 14|Bardet-Biedl syndrome 14; BBS14|BBS14 clingen MONDO:0014441 Bardet-Biedl syndrome 13 biolink:Disease mondo DOID:0110135|OMIM:615990|MESH:C567140|ICD10:Q87.89|UMLS:C2673873 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. UMLS:C2673873|http://identifiers.org/omim/615990|MESH:C567140|DOID:0110135 http://purl.obolibrary.org/obo/MONDO_0014441 Bardet-Biedl syndrome caused by mutation in MKS1|Bardet-Biedl syndrome 13|Bardet-Biedl syndrome type 13|Bardet-Biedl syndrome 13; BBS13|MKS1 Bardet-Biedl syndrome|BBS13 MONDO:0014440 Bardet-Biedl syndrome 12 biolink:Disease mondo DOID:0110134|EFO:0009023|MESH:C565921|ICD10:Q87.89|UMLS:C1859570|OMIM:615989|GARD:0010211 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. http://identifiers.org/omim/615989|UMLS:C1859570|DOID:0110134|MESH:C565921 http://purl.obolibrary.org/obo/MONDO_0014440 Bardet-Biedl syndrome 12; BBS12|BBS12 Bardet-Biedl syndrome|BBS12|Bardet-Biedl syndrome caused by mutation in BBS12|Bardet-Biedl syndrome 12|Bardet-Biedl syndrome type 12 HGNC:11042 SLC6A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11042 CHEBI:26833 sulfur atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26833 Schwefel|theion|S|Elemental sulfur|soufre|sulphur|sulfur|16S|azufre|sulfur MONDO:0002468 hyperimmunoglobulin syndrome biolink:Disease mondo DOID:2959|NCIT:C27579|UMLS:C1334069 NCIT:C27579|DOID:2959|UMLS:C1334069 http://purl.obolibrary.org/obo/MONDO_0002468 hyperimmunoglobulin syndrome HGNC:23038 LMBRD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23038 MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma biolink:Disease mondo UMLS:C0346342|DOID:296|NCIT:C6804|SCTID:254989000 A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland. SNOMEDCT:254989000|NCIT:C6804|UMLS:C0346342|DOID:296 http://purl.obolibrary.org/obo/MONDO_0002469 malignant mixed neoplasm of the lacrimal gland|lacrimal gland carcinoma ex pleomorphic adenoma|carcinoma Ex pleomorphic adenoma of the lacrimal gland|malignant mixed tumor of lacrimal gland|malignant mixed tumor of the lacrimal gland|mixed lacrimal gland cancer|carcinoma ex pleomorphic adenoma of lacrimal gland|carcinoma ex pleomorphic adenoma of the lacrimal gland|malignant mixed neoplasm of lacrimal gland|lacrimal gland malignant mixed neoplasm|lacrimal gland malignant mixed tumor CHEBI:26835 sulfur molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entities|sulfur molecular entity MONDO:0002464 lacrimal gland cancer biolink:Disease mondo NCIT:C3563|SCTID:127004000|ICD9:190.2|COHD:4092530|DOID:294|ICD9:239.89 A malignant neoplasm involving the lacrimal gland. SNOMEDCT:127004000|NCIT:C3563|DOID:294 http://purl.obolibrary.org/obo/MONDO_0002464 malignant tumour of lacrimal gland|cancer of lacrimal gland|malignant neoplasm of lacrimal gland|malignant tumor of lacrimal gland|malignant tumor of the lacrimal gland|lacrimal gland cancer|malignant lacrimal gland tumor|malignant neoplasm of the lacrimal gland|tumor of the lacrimal gland|malignant lacrimal gland neoplasm|neoplasm of lacrimal gland MONDO:0002465 bronchiolitis (disease) biolink:Disease mondo NCIT:C39658|HP:0011950|UMLS:C0006271|ICD9:466.19|DOID:2942|MESH:D001988|SCTID:4120002 Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath. UMLS:C0006271|SNOMEDCT:4120002|NCIT:C39658|DOID:2942|MESH:D001988 http://purl.obolibrary.org/obo/MONDO_0002465 viral bronchiolitis|RSV bronchiolitis|wheezy bronchitis|bronchiolitis MONDO:0002466 eye carcinoma biolink:Disease mondo UMLS:C0848866|DOID:295|NCIT:C6079 A carcinoma that arises from epithelial cells of the eye NCIT:C6079|UMLS:C0848866|DOID:295 http://purl.obolibrary.org/obo/MONDO_0002466 ocular carcinoma|carcinoma of eye|eyeball of camera-type eye carcinoma|carcinoma of the eye|eye carcinoma|carcinoma of eyeball of camera-type eye MONDO:0002467 inner ear disease biolink:Disease mondo ICD10:H83.90|MESH:D007759|ICD10:H83.9|NCIT:C27166|DOID:2952|SCTID:232297009|ICD10:H80-H83|ICD10:H80.H83 A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. MESH:D007759|NCIT:C27166|SNOMEDCT:232297009|DOID:2952 http://purl.obolibrary.org/obo/MONDO_0002467 internal Ear disorder|internal ear disease or disorder|disorder of internal ear|labyrinthine disease|disease of internal ear|disease or disorder of internal ear|disorder of internal ear|vestibular disorder|internal ear disease|inner Ear disorder UBERON:0035295 left ear biolink:AnatomicalEntity mondo The organ of hearing located on the left side of the head[ncit,modified]. http://purl.obolibrary.org/obo/UBERON_0035295 MONDO:0002460 lacrimal system cancer biolink:Disease mondo NCIT:C5102|UMLS:C1334361|DOID:292|SCTID:416510003 A cancer that involves the lacrimal apparatus. UMLS:C1334361|SNOMEDCT:416510003|DOID:292|NCIT:C5102 http://purl.obolibrary.org/obo/MONDO_0002460 lacrimal apparatus cancer|malignant lacrimal apparatus neoplasm|cancer of lacrimal apparatus|neoplasm of the lacrimal system|neoplasm of lacrimal system|lacrimal system tumor|lacrimal system neoplasm|lacrimal system neoplasms|malignant neoplasm of lacrimal apparatus|tumor of the lacrimal system|tumor of lacrimal system UBERON:0035298 tuberculum sellae biolink:AnatomicalEntity mondo An elevated zone of the sella turcica behind the chiasmatic groove[WP,modified]. http://purl.obolibrary.org/obo/UBERON_0035298 MONDO:0002461 membranoproliferative glomerulonephritis (disease) biolink:Disease mondo HP:0000793|DOID:2920 Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. DOID:2920 http://purl.obolibrary.org/obo/MONDO_0002461 membranoproliferative glomerulonephritis|lobular glomerulonephritis|chronic glomerulonephritis, lobular MONDO:0002462 glomerulonephritis (disease) biolink:Disease mondo ICD9:583.9|UMLS:C0017658|NCIT:C26784|ICD10:N05|HP:0000099|DOID:2921|GARD:0006516|SCTID:36171008|MESH:D005921|ICD10:N08 A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. DOID:2921|NCIT:C26784|UMLS:C0017658|MESH:D005921|SNOMEDCT:36171008 http://purl.obolibrary.org/obo/MONDO_0002462 renal glomerulus nephritis|glomerulonephritis|bright's disease|nephritis of renal glomerulus|glomerular nephritis MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency biolink:Disease mondo UMLS:C4014863|ICD10:D84.8|OMIM:615978|Orphanet:319581 Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). UMLS:C4014863|http://identifiers.org/omim/615978|ORPHA:319581 http://purl.obolibrary.org/obo/MONDO_0014429 immunodeficiency 27B|immunodeficiency type 27B|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|IFNGR1 deficiency, autosomal dominant|autosomal dominant MSMD due to partial IFNgammaR1 deficiency|immunodeficiency 27B; IMD27B|IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|immunodeficiency 27B, Mycobacteriosis, autosomal dominant|autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency|IMD27B ordo_disease|predisposition MONDO:0002463 lacrimal gland carcinoma biolink:Disease mondo UMLS:C1334358|NCIT:C6129|DOID:293 A carcinoma that arises from epithelial cells of the lacrimal gland. UMLS:C1334358|DOID:293|NCIT:C6129 http://purl.obolibrary.org/obo/MONDO_0002463 carcinoma of the lacrimal gland|carcinoma of lacrimal gland|lacrimal gland carcinoma HGNC:25695 CARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25695 MONDO:0014435 Bardet-Biedl syndrome 7 biolink:Disease mondo DOID:0110129|ICD10:Q87.89|MESH:C565916|EFO:0009026|UMLS:C1859565|GARD:0010206|OMIM:615984 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. DOID:0110129|MESH:C565916|UMLS:C1859565|http://identifiers.org/omim/615984 http://purl.obolibrary.org/obo/MONDO_0014435 BBS7 Bardet-Biedl syndrome|Bardet-Biedl syndrome 7|BBS7|Bardet-Biedl syndrome type 7|Bardet-Biedl syndrome caused by mutation in BBS7|Bardet-Biedl syndrome 7; BBS7 gard_rare MONDO:0014434 Bardet-Biedl syndrome 5 biolink:Disease mondo OMIM:615983|DOID:0110127|EFO:0009025|UMLS:C3892039|GARD:0010204|ICD10:Q87.89 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. DOID:0110127|UMLS:C3892039|http://identifiers.org/omim/615983 http://purl.obolibrary.org/obo/MONDO_0014434 Bardet-Biedl syndrome 5; BBS5|Bardet-Biedl syndrome 5|BBS5 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 5|BBS5|Bardet-Biedl syndrome caused by mutation in BBS5 gard_rare MONDO:0014433 Bardet-Biedl syndrome 4 biolink:Disease mondo OMIM:615982|DOID:0110126|UMLS:C2936864|EFO:0009024|GARD:0000823|ICD10:Q87.89|MESH:C537912 MESH:C537912|DOID:0110126|http://identifiers.org/omim/615982|UMLS:C2936864 http://purl.obolibrary.org/obo/MONDO_0014433 Bardet-Biedl syndrome 4; BBS4|Bardet-Biedl syndrome 4|Bardet-Biedl syndrome type 4|BBS4 gard_rare MONDO:0014432 Bardet-Biedl syndrome 2 biolink:Disease mondo DOID:0110124|OMIM:615981|UMLS:C2936863|GARD:0000821|ICD10:Q87.89|MESH:C537910 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. DOID:0110124|http://identifiers.org/omim/615981|UMLS:C2936863|MESH:C537910 http://purl.obolibrary.org/obo/MONDO_0014432 Bardet-Biedl syndrome|Bardet-Biedl syndrome 2; BBS2|Bardet-Biedl syndrome type 2|Bardet-Biedl syndrome 2|BBS2|BBS2 Bardet-Biedl syndrome|BBS|Bardet-Biedl syndrome caused by mutation in BBS2 MONDO:0014439 Bardet-Biedl syndrome 11 biolink:Disease mondo GARD:0010210|OMIM:615988|UMLS:C1859569|DOID:0110133|ICD10:Q87.89|MESH:C565920 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. DOID:0110133|MESH:C565920|http://identifiers.org/omim/615988|UMLS:C1859569 http://purl.obolibrary.org/obo/MONDO_0014439 Bardet-Biedl syndrome caused by mutation in TRIM32|Bardet-Biedl syndrome type 11|Bardet-Biedl syndrome 11|Bardet-Biedl syndrome 11; BBS11|TRIM32 Bardet-Biedl syndrome|BBS11 MONDO:0014438 Bardet-Biedl syndrome 10 biolink:Disease mondo MESH:C565919|OMIM:615987|UMLS:C1859568|GARD:0010209|DOID:0110132|ICD10:Q87.89|EFO:0009022 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. DOID:0110132|MESH:C565919|UMLS:C1859568|http://identifiers.org/omim/615987 http://purl.obolibrary.org/obo/MONDO_0014438 BBS10|Bardet-Biedl syndrome type 10|Bardet-Biedl syndrome 10; BBS10|Bardet-Biedl syndrome 10|BBS10 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in BBS10 MONDO:0014437 Bardet-Biedl syndrome 9 biolink:Disease mondo MESH:C565918|EFO:0009027|OMIM:615986|UMLS:C1859567|ICD10:Q87.89|GARD:0010208|DOID:0110131 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. DOID:0110131|MESH:C565918|http://identifiers.org/omim/615986|UMLS:C1859567 http://purl.obolibrary.org/obo/MONDO_0014437 Bardet-Biedl syndrome type 9|BBS9 Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|Bardet-Biedl syndrome caused by mutation in BBS9|Bardet-Biedl syndrome 9; BBS9|BBS9 gard_rare MONDO:0014436 Bardet-Biedl syndrome 8 biolink:Disease mondo MESH:C565917|OMIM:615985|ICD10:Q87.89|UMLS:C1859566|GARD:0010207|DOID:0110130 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. DOID:0110130|MESH:C565917|UMLS:C1859566|http://identifiers.org/omim/615985 http://purl.obolibrary.org/obo/MONDO_0014436 BBS8|Bardet-Biedl syndrome type 8|TTC8 Bardet-Biedl syndrome|Bardet-Biedl syndrome 8|Bardet-Biedl syndrome caused by mutation in TTC8|Bardet-Biedl syndrome 8; BBS8 gard_rare HGNC:11051 SLC6A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/11051 HGNC:11050 SLC6A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11050 MONDO:0014431 LIPE-related familial partial lipodystrophy biolink:Disease mondo OMIM:615980|UMLS:C4014869|Orphanet:435660|DOID:0070206|ICD10:E88.1|GARD:0013126 ORPHA:435660|UMLS:C4014869|DOID:0070206|http://identifiers.org/omim/615980 http://purl.obolibrary.org/obo/MONDO_0014431 lipodystrophy, familial partial, type 6|LIPE-related FPLD|lipodystrophy, familial partial, associated with Lipe mutations|lipodystrophy, familial partial, type 6; FPLD6|familial partial lipodystrophy associated with LIPE mutations|FPLD6|familial partial lipodystrophy type 6 ordo_disease|gard_rare HGNC:11056 SLC6A9 biolink:OntologyClass mondo http://identifiers.org/hgnc/11056 MONDO:0014430 intellectual disability, autosomal recessive 45 biolink:Disease mondo OMIM:615979|UMLS:C4014864 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene. UMLS:C4014864|http://identifiers.org/omim/615979 http://purl.obolibrary.org/obo/MONDO_0014430 mental retardation, autosomal recessive 45; MRT45|MRT45|FBXO31 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 45|mental retardation, autosomal recessive 45|intellectual disability, autosomal recessive 45|mental retardation, autosomal recessive type 45|intellectual disability, autosomal recessive 45; MRT45|autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31 HGNC:11055 SLC6A8 biolink:OntologyClass mondo http://identifiers.org/hgnc/11055 MONDO:0002435 oculomotor nerve neoplasm biolink:Disease mondo ICD9:239.7|NCIT:C6994|DOID:2817|SCTID:126969002|UMLS:C1263895 A neoplasm involving a oculomotor nerve. SNOMEDCT:126969002|DOID:2817|NCIT:C6994|UMLS:C1263895 http://purl.obolibrary.org/obo/MONDO_0002435 neoplasm of oculomotor nerve|oculomotor nerve tumor|IIIrd cranial nerve tumor|cranial nerve III tumor|oculomotor nerve neoplasm|tumor of oculomotor nerve|oculomotor nerve neoplasm (disease) MONDO:0002436 nasal disorder biolink:Disease mondo MESH:D009668|UMLS:C0028432|DOID:2825|ICD9:478.19|SCTID:89488007|COHD:4229909 A disease involving the nose. SNOMEDCT:89488007|MESH:D009668|DOID:2825|UMLS:C0028432 http://purl.obolibrary.org/obo/MONDO_0002436 nasal disorder|disorder of the nose|nose disease or disorder|disorder of nose|nose disease|disease or disorder of nose|disease of nose|disorder of nose MONDO:0002437 dehydration polycythemia biolink:Disease mondo UMLS:C0856815|NCIT:C27310|DOID:2833 Polycythemia resulting from dehydration. UMLS:C0856815|NCIT:C27310|DOID:2833 http://purl.obolibrary.org/obo/MONDO_0002437 MONDO:0002438 acquired polycythemia biolink:Disease mondo ICD9:289.0|ICD10:D75.1|DOID:2834 An instance of polycythemia that is acquired during the lifetime of the individual. DOID:2834 http://purl.obolibrary.org/obo/MONDO_0002438 acquired polycythemia|polycythemia, secondary|secondary polycythemia|acquired polycythemia (disease) MONDO:0002431 obsolete nonspecific interstitial pneumonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002431 MONDO:0002432 malignant neoplasm of acoustic nerve biolink:Disease mondo SCTID:254980001|UMLS:C0346331|ICD10:C72.4|NCIT:C4539|DOID:2814 A malignant neoplasm involving the vestibulocochlear nerve. SNOMEDCT:254980001|DOID:2814|NCIT:C4539|UMLS:C0346331 http://purl.obolibrary.org/obo/MONDO_0002432 vestibulocochlear nerve cancer|malignant neoplasm of the acoustic nerve|malignant acoustic nerve tumor|malignant tumor of vestibulocochlear nerve|malignant neoplasm of eighth cranial nerve|cancer of the vestibulocochlear nerve|malignant eighth cranial nerve neoplasm|malignant eighth cranial nerve tumor|malignant vestibulocochlear nerve neoplasm|malignant neoplasm of the eighth cranial nerve|malignant acoustic nerve neoplasm|malignant neoplasm of vestibulocochlear nerve|malignant tumor of the vestibulocochlear nerve|malignant neoplasm of the vestibulocochlear nerve|malignant tumor of acoustic vestibular nerve|malignant tumor of acoustic nerve|malignant tumor of the acoustic nerve|cancer of vestibulocochlear nerve|malignant vestibulocochlear nerve tumor|malignant tumor of eighth cranial nerve|malignant tumor of the eighth cranial nerve|malignant tumour of acoustic vestibular nerve SO:0000460 vertebrate_immunoglobulin_T_cell_receptor_segment biolink:SequenceFeature mondo Germline genomic DNA with the sequence for a V, D, C, or J portion of an immunoglobulin/T-cell receptor. http://purl.obolibrary.org/obo/SO_0000460 vertebrate_immunoglobulin/T-cell receptor gene|vertebrate immunoglobulin T cell receptor segment MONDO:0002433 malignant cranial nerve neoplasm biolink:Disease mondo ICD10:C72.50|NCIT:C3571|SCTID:188307009|UMLS:C0153644|ICD9:192.0|DOID:2815 Abnormal malignant growth of the cells that comprise the cranial nerve. SNOMEDCT:188307009|DOID:2815|UMLS:C0153644|NCIT:C3571 http://purl.obolibrary.org/obo/MONDO_0002433 malignant tumor of the cranial nerve|malignant neoplasm of cranial nerve|malignant neoplasm of cranial nerves|malignant neoplasm of the cranial nerve|malignant cranial nerve tumor|malignant tumor of cranial nerve|cranial nerve malignant neoplasm|malignant cranial nerve neoplasm|cranial nerve neoplasm, malignant|cancer of cranial nerve|cranial nerve cancer MONDO:0026404 X inactivation, familial skewed, 1 biolink:Disease mondo OMIM:300087 http://identifiers.org/omim/300087 http://purl.obolibrary.org/obo/MONDO_0026404 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1|X-inactivation, familial skewed, 1 MONDO:0002434 oculomotor nerve cancer biolink:Disease mondo SCTID:93929003|NCIT:C6995|DOID:2816|UMLS:C0686417 A cancer involving a oculomotor nerve. UMLS:C0686417|DOID:2816|NCIT:C6995|SNOMEDCT:93929003 http://purl.obolibrary.org/obo/MONDO_0002434 cancer of oculomotor nerve|primary malignant neoplasm of oculomotor nerve|oculomotor nerve neoplasm, malignant|malignant oculomotor nerve tumor|oculomotor nerve cancer|malignant neoplasm of oculomotor nerve|malignant oculomotor nerve neoplasm|IIIrd cranial nerve neoplasm, malignant UBERON:0011298 submucosa of uterine tube biolink:AnatomicalEntity mondo The submucous layer of the wall of the uterine tube. http://purl.obolibrary.org/obo/UBERON_0011298 tela submucosa tubae uterinae|submucous layer of uterine tube|submucosa of fallopian tube|uterine submucosa HGNC:25660 TTC21B biolink:OntologyClass mondo http://identifiers.org/hgnc/25660 MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome biolink:Disease mondo UMLS:C4014821|OMIM:615960|Orphanet:370022|ICD10:G11.1 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. http://identifiers.org/omim/615960|UMLS:C4014821|ORPHA:370022 http://purl.obolibrary.org/obo/MONDO_0014419 Poretti-Boltshauser syndrome|PORETTI-Boltshauser syndrome|PORETTI-Boltshauser syndrome; PTBHS|PTBHS ordo_disease MONDO:0002430 obsolete acute interstitial pneumonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002430 MONDO:0014418 myopathy, centronuclear, 5 biolink:Disease mondo OMIM:615959|UMLS:C4014814 Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene. UMLS:C4014814|http://identifiers.org/omim/615959 http://purl.obolibrary.org/obo/MONDO_0014418 CNM5|myopathy, centronuclear, 5; CNM5|SPEG autosomal recessive centronuclear myopathy|myopathy, centronuclear, type 5|autosomal recessive centronuclear myopathy caused by mutation in SPEG|myopathy, centronuclear, 5 HGNC:25662 AAGAB biolink:OntologyClass mondo http://identifiers.org/hgnc/25662 UBERON:0011299 white matter of telencephalon biolink:AnatomicalEntity mondo A partion of white matter that is part of a telencephalon. This can be further subdivided in some species, for example, into hemisphere white matter and the corpus callosum. http://purl.obolibrary.org/obo/UBERON_0011299 telencephalic white matter|telencephalic tract/commissure|predominantly white regional part of telencephalon|telencephalic tracts MONDO:0014424 congenital deficiency in alpha-fetoprotein biolink:Disease mondo MESH:C566300|UMLS:C1863081|OMIM:615969|Orphanet:168612 Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate. MESH:C566300|ORPHA:168612|UMLS:C1863081|http://identifiers.org/omim/615969 http://purl.obolibrary.org/obo/MONDO_0014424 ALPHA-fetoprotein deficiency; AFPD|ALPHA-fetoprotein deficiency|AFPD ordo_biological_anomaly HGNC:11027 SLC4A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11027 MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency biolink:Disease mondo SCTID:716871006|OMIM:615966|ICD10:D81.1|UMLS:C4014833|Orphanet:317425 Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. UMLS:C4014833|SNOMEDCT:716871006|http://identifiers.org/omim/615966|ORPHA:317425 http://purl.obolibrary.org/obo/MONDO_0014423 immunodeficiency 26 with or without neurologic abnormalities; IMD26|IMD26|immunodeficiency 26 with or without neurologic abnormalities|SCID due to DNA-PKcs deficiency ordo_disease MONDO:0014422 vesicoureteral reflux 8 biolink:Disease mondo OMIM:615963|UMLS:C4014831 Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene. UMLS:C4014831|http://identifiers.org/omim/615963 http://purl.obolibrary.org/obo/MONDO_0014422 vesicoureteral reflux (disease) caused by mutation in TNXB|vesicoureteral reflux type 8|VUR8|vesicoureteral reflux 8|vesicoureteral reflux 8; VUR8|TNXB vesicoureteral reflux (disease) HGNC:11025 SLC3A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11025 MONDO:0014421 glucocorticoid resistance biolink:Disease mondo MESH:C564221|GARD:0002499|UMLS:C1841972|Orphanet:786|ICD10:E25.8|OMIM:615962 ORPHA:786|MESH:C564221|UMLS:C1841972|http://identifiers.org/omim/615962 http://purl.obolibrary.org/obo/MONDO_0014421 GCCR|cortisol resistance from glucocorticoid receptor defect|Gcr deficiency|glucocorticoid receptor deficiency|glucocorticoid resistance, generalized; GCCR|Gccr deficiency|glucocorticoid resistance, generalized|Grl deficiency ordo_disease|gard_rare MONDO:0014428 autosomal recessive nonsyndromic deafness 102 biolink:Disease mondo OMIM:615974|UMLS:C3892050|ICD10:H90.3|DOID:0110463 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene. DOID:0110463|UMLS:C3892050|http://identifiers.org/omim/615974 http://purl.obolibrary.org/obo/MONDO_0014428 deafness, autosomal recessive type 102|deafness, autosomal recessive 102; DFNB102|autosomal recessive nonsyndromic deafness type 102|autosomal recessive nonsyndromic deafness caused by mutation in EPS8|DFNB102|EPS8 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 102|deafness, autosomal recessive 102 MONDO:0014427 cone-rod dystrophy 20 biolink:Disease mondo OMIM:615973|DOID:0111026|UMLS:C4014856 Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene. DOID:0111026|UMLS:C4014856|http://identifiers.org/omim/615973 http://purl.obolibrary.org/obo/MONDO_0014427 POC1B cone-rod dystrophy|cone-rod dystrophy type 20|cone-rod dystrophy 20; CORD20|cone-rod dystrophy 20|CORD20|cone-rod dystrophy caused by mutation in POC1B MONDO:0014426 nanophthalmos 4 biolink:Disease mondo OMIM:615972|UMLS:C4014848 Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene. UMLS:C4014848|http://identifiers.org/omim/615972 http://purl.obolibrary.org/obo/MONDO_0014426 nanophthalmos 4; NNO4|nanophthalmia caused by mutation in TMEM98|nanophthalmos type 4|Nanophthalmia 4|NNO4|TMEM98 nanophthalmia|nanophthalmos 4 MONDO:0014425 hereditary persistence of alpha-fetoprotein biolink:Disease mondo OMIM:615970|SCTID:716697002|Orphanet:168615 Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy ORPHA:168615|SNOMEDCT:716697002|http://identifiers.org/omim/615970 http://purl.obolibrary.org/obo/MONDO_0014425 ALPHA-fetoprotein, hereditary persistence OF; HPAFP|ALPHA-fetoprotein, hereditary persistence OF|HPAFP ordo_biological_anomaly MONDO:0002428 protozoa infectious disease biolink:Disease mondo MESH:D011528|DOID:2789|NCIT:C34953|ICD10:B64|ICD10:B50-B64 An infection that is caused by protozoans. NCIT:C34953|MESH:D011528|DOID:2789 http://purl.obolibrary.org/obo/MONDO_0002428 protozoal infection|parasitic protozoa infectious disease|Mastigophora infectious disease|sarcomastigophora infectious disease MONDO:0014420 short stature due to primary acid-labile subunit deficiency biolink:Disease mondo SCTID:721074002|UMLS:C3900122|ICD10:E34.3|Orphanet:140941|OMIM:615961 Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. UMLS:C3900122|http://identifiers.org/omim/615961|SNOMEDCT:721074002|ORPHA:140941 http://purl.obolibrary.org/obo/MONDO_0014420 ACLSD|acid-labile SUBUNIT deficiency|acid-labile SUBUNIT deficiency; ACLSD ordo_disease HGNC:11023 SLC35A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11023 MONDO:0002429 idiopathic interstitial pneumonia biolink:Disease mondo ICD10:J84.114|SCTID:700249006|ICD10:J84.11|DOID:2797|MESH:D054988|UMLS:C2350236|Orphanet:98300|ICD10:J84.112|NCIT:C35714 A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis). UMLS:C2350236|ORPHA:98300|NCIT:C35714|MESH:D054988|DOID:2797|SNOMEDCT:700249006 http://purl.obolibrary.org/obo/MONDO_0002429 idiopathic fibrosing alveolitis|noninfectious pneumonia|IIp|IPF|diffuse idiopathic pulmonary fibrosis ordo_group_of_disorders HGNC:11022 SLC35A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11022 HGNC:11021 SLC35A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11021 HGNC:11020 SLC34A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11020 HGNC:13681 DCHS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13681 NCBITaxon:12542 Omsk hemorrhagic fever virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12542 Omsk haemorrhagic fever virus|Omsk haemorrhagic fever virus OHF MONDO:0002446 obsolete hemoglobinopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002446 MONDO:0002447 endometrial carcinoma (disease) biolink:Disease mondo SCTID:254878006|DOID:2871|HP:0012114|UMLS:C0476089|NCIT:C7558|ONCOTREE:UCEC A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation. NCIT:C7558|DOID:2871|SNOMEDCT:254878006|UMLS:C0476089 http://purl.obolibrary.org/obo/MONDO_0002447 endometrial cancer|carcinoma, endometrial, malignant|endometrium carcinoma|endometrioid carcinoma|endometrioid carcinoma of female reproductive system|carcinoma of endometrium|carcinoma of the endometrium|endometrial carcinoma MONDO:0002448 laryngeal sarcoma biolink:Disease mondo UMLS:C1334377|NCIT:C6020|DOID:2877 A rare malignant soft tissue neoplasm that arises from the larynx. NCIT:C6020|DOID:2877|UMLS:C1334377 http://purl.obolibrary.org/obo/MONDO_0002448 laryngeal sarcoma|sarcoma of larynx|larynx sarcoma|sarcoma of the larynx HGNC:25676 GORAB biolink:OntologyClass mondo http://identifiers.org/hgnc/25676 MONDO:0002449 nodular degeneration of cornea biolink:Disease mondo COHD:381296|UMLS:C0155122|SCTID:72620002|ICD9:371.46|ICD10:H18.45|DOID:2879 SNOMEDCT:72620002|UMLS:C0155122|DOID:2879 http://purl.obolibrary.org/obo/MONDO_0002449 HGNC:23015 FAM20A biolink:OntologyClass mondo http://identifiers.org/hgnc/23015 MONDO:0002442 long QT syndrome biolink:Disease mondo NCIT:C34786|UMLS:C0023976|COHD:314664|ICD9:426.82|MESH:D008133|DOID:2843|ICD10:I45.81 A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome. NCIT:C34786|DOID:2843|UMLS:C0023976|MESH:D008133 http://purl.obolibrary.org/obo/MONDO_0002442 long Q-T syndrome|Romano-Ward syndrome|ventricular arrhythmia associated with long QT syndrome|LQT MONDO:0002443 bruxism (disease) biolink:Disease mondo HP:0003763|ICD10:G47.63|DOID:2846|ICD10:F45.8|ICD9:327.53 Excessive clenching of the jaw and grinding of the teeth. NCIT:C73511|DOID:2846 http://purl.obolibrary.org/obo/MONDO_0002443 bruxism - teeth grinding|grinding teeth|bruxism|sleep related bruxism|teeth grinding UBERON:0011282 nail of pedal digit 5 biolink:AnatomicalEntity mondo A nail that is part of a pedal digit 5. http://purl.obolibrary.org/obo/UBERON_0011282 nail of little toe|nail of pedal digit V|little toe nail|nail plate of little toe|claw of digit 5 of hind-paw|nail of fifth toe MONDO:0002444 melancholia biolink:Disease mondo DOID:2848|NCIT:C34812 A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite. NCIT:C34812|DOID:2848 http://purl.obolibrary.org/obo/MONDO_0002444 melancholic depression|depression with melancholic features MONDO:0002445 obsolete hemoglobin c disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002445 HGNC:25671 RNASEH2B biolink:OntologyClass mondo http://identifiers.org/hgnc/25671 MONDO:0014409 intellectual disability, autosomal recessive 44 biolink:Disease mondo UMLS:C4014745|OMIM:615942 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene. http://identifiers.org/omim/615942|UMLS:C4014745 http://purl.obolibrary.org/obo/MONDO_0014409 intellectual disability, autosomal recessive type 44|mental retardation, autosomal recessive 44; MRT44|autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23|MRT44|intellectual disability, autosomal recessive 44|intellectual disability, autosomal recessive 44; MRT44|mental retardation, autosomal recessive type 44|METTL23 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 44 MONDO:0002440 erythropoietin polycythemia biolink:Disease mondo UMLS:C0391869|DOID:2839|ICD10:D75.1|NCIT:C35434|SCTID:367328005 Polycythemia that is caused by excess erythropoietin. SNOMEDCT:367328005|DOID:2839|NCIT:C35434|UMLS:C0391869 http://purl.obolibrary.org/obo/MONDO_0002440 secondary polycythemia with excess erythropoietin|polycythaemia due to Excess erythropoetin production|polycythemia, nephrogenous|polycythemia due to excess erythopoetin production|nephrogenous polycythemia MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 biolink:Disease mondo OMIM:615938|UMLS:C4014742 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene. http://identifiers.org/omim/615938|UMLS:C4014742 http://purl.obolibrary.org/obo/MONDO_0014408 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2|MPPH3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3; MPPH3 MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 biolink:Disease mondo OMIM:615937|UMLS:C4014738 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene. http://identifiers.org/omim/615937|UMLS:C4014738 http://purl.obolibrary.org/obo/MONDO_0014407 AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2|MPPH2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; MPPH2|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3 MONDO:0002441 Jervell-Lange Nielsen syndrome biolink:Disease mondo GARD:0003048|DOID:2842|MESH:D029593 An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. DOID:2842|MESH:D029593 http://purl.obolibrary.org/obo/MONDO_0002441 prolonged QT interval in EKG and sudden death|Jervell and Lange-Nielson syndrome|Surdo-cardiac syndrome|JLNS1|Cardioauditory syndrome of Jervell and Lange-Nielsen|deafness, congenital, and functional heart disease|Jervell Lange-Nielsen syndrome gard_rare UBERON:0011289 pharyngobasilar fascia biolink:AnatomicalEntity mondo The pharyngeal aponeurosis (or pharyngobasilar fascia, or fibrous coat), is situated between the mucous and muscular layers. It is thick above where the muscular fibers are wanting, and is firmly connected to the basilar portion of the occipital and the petrous portions of the temporal bones. As it descends it diminishes in thickness, and is gradually lost. It is strengthened posteriorly by a strong fibrous band, which is attached above to the pharyngeal spine on the under surface of the basilar portion of the occipital bone, and passes downward, forming a median raphe, which gives attachment to the Constrictores pharyngis. http://purl.obolibrary.org/obo/UBERON_0011289 pharyngeal aponeurosis|pharyngeal aponeurosis MONDO:0014413 orofaciodigital syndrome type 14 biolink:Disease mondo Orphanet:434179|ICD10:Q87.0|SCTID:763837007|UMLS:C4014780|OMIM:615948 Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. ORPHA:434179|UMLS:C4014780|http://identifiers.org/omim/615948|SNOMEDCT:763837007 http://purl.obolibrary.org/obo/MONDO_0014413 orofaciodigital syndrome type 14|orofaciodigital syndrome XIV|orofaciodigital syndrome XIV; OFD14|microcephaly-cerebral malformation-orofaciodigital syndrome|orofaciodigital syndrome 14|orofaciodigital syndrome caused by mutation in C2CD3|C2CD3 orofaciodigital syndrome|oral-facial-digital syndrome type 14|OFD14 ordo_malformation_syndrome MONDO:0014412 hyperlipoproteinemia, type 1D biolink:Disease mondo OMIM:615947|Orphanet:535458|UMLS:C4014767 Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene. UMLS:C4014767|ORPHA:535458|http://identifiers.org/omim/615947 http://purl.obolibrary.org/obo/MONDO_0014412 GPIHBP1 familial hyperlipidemia|familial hyperlipidemia caused by mutation in GPIHBP1|hyperlipoproteinemia, type ID ordo_etiological_subtype HGNC:11037 SLC5A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11037 MONDO:0014411 myopia 24, autosomal dominant biolink:Disease mondo UMLS:C4014762|OMIM:615946 UMLS:C4014762|http://identifiers.org/omim/615946 http://purl.obolibrary.org/obo/MONDO_0014411 myopia 24, autosomal dominant; MYP24|MYP24|myopia 24, autosomal dominant HGNC:11036 SLC5A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11036 MONDO:0014410 spinocerebellar ataxia type 37 biolink:Disease mondo DOID:0050984|ICD10:G11.8|UMLS:C3889636|GARD:0012368|SCTID:719301002|Orphanet:363710|OMIM:615945|UMLS:C4304821 Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements. ORPHA:363710|UMLS:C4304821|DOID:0050984|http://identifiers.org/omim/615945|SNOMEDCT:719301002|UMLS:C3889636 http://purl.obolibrary.org/obo/MONDO_0014410 spinocerebellar ataxia 37; SCA37|spinocerebellar ataxia 37|spinocerebellar ataxia with altered vertical eye movements|SCA37 ordo_disease MONDO:0014417 spinocerebellar ataxia type 38 biolink:Disease mondo UMLS:C4518337|DOID:0050985|GARD:0012369|Orphanet:423296|OMIM:615957|ICD10:G11.8|SCTID:734021001|UMLS:C4014812|EFO:0009056 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. ORPHA:423296|DOID:0050985|UMLS:C4014812|SNOMEDCT:734021001|UMLS:C4518337|http://identifiers.org/omim/615957 http://purl.obolibrary.org/obo/MONDO_0014417 spinocerebellar ataxia type 38|spinocerebellar ataxia 38; SCA38|SCA38|spinocerebellar ataxia 38 ordo_disease MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 biolink:Disease mondo OMIM:615954|UMLS:C4014803 Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene. UMLS:C4014803|http://identifiers.org/omim/615954 http://purl.obolibrary.org/obo/MONDO_0014416 ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia|AIMAH2|ACTH-independent macronodular adrenal hyperplasia type 2|Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5|primary macronodular adrenal hyperplasia|ACTH-independent macronodular adrenal hyperplasia 2|ACTH-independent macronodular adrenal hyperplasia 2; AIMAH2 MONDO:0014415 kallikrein, decreased urinary activity of biolink:Disease mondo MESH:C563653|OMIM:615953 MESH:C563653|http://identifiers.org/omim/615953 http://purl.obolibrary.org/obo/MONDO_0014415 kallikrein, decreased urinary activity of MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease biolink:Disease mondo OMIM:615952|ICD10:M35.8|UMLS:C4014795|Orphanet:438159 UMLS:C4014795|ORPHA:438159|http://identifiers.org/omim/615952 http://purl.obolibrary.org/obo/MONDO_0014414 autoimmune disease, multisystem, infantile-onset, 1|autoimmune disease, multisystem, infantile-onset; ADMIO|autoimmune disease, multisystem, infantile-onset|ADMIO1|ADMIO|autoimmune disease, multisystem, infantile-onset, 1; ADMIO1 ordo_disease HGNC:11030 SLC4A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11030 MONDO:0002439 obsolete stress polycythemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002439 NCBITaxon:214035 Tunga penetrans organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_214035 chigger|chigoe flea SO:0000483 nc_primary_transcript biolink:SequenceFeature mondo A primary transcript that is never translated into a protein. http://purl.obolibrary.org/obo/SO_0000483 nc primary transcript|noncoding primary transcript MONDO:0002497 food allergy biolink:Disease mondo MESH:D005512|COHD:4188027|EFO:1001890|DOID:3044|ICD9:995.3|SCTID:414285001 Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food. DOID:3044|SNOMEDCT:414285001|MESH:D005512 http://purl.obolibrary.org/obo/MONDO_0002497 allergic disease from food material|food material allergic disease|allergy of food material|food hypersensitivity MONDO:0002498 obsolete glioblastoma multiforme (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002498 MONDO:0002499 obsolete astrocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002499 UBERON:0035240 posterior wall of oropharynx biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035240 MONDO:0002493 prostatic acinar adenocarcinoma biolink:Disease mondo UMLS:C1332139|NCIT:C5596|DOID:3024 An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants. UMLS:C1332139|DOID:3024|NCIT:C5596 http://purl.obolibrary.org/obo/MONDO_0002493 prostate acinar adenocarcinoma|acinar adenocarcinoma of prostate|acinar adenocarcinoma of the prostate|acinar prostate adenocarcinoma|prostatic acinar adenocarcinoma GO:2000027 regulation of animal organ morphogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of animal organ morphogenesis. http://purl.obolibrary.org/obo/GO_2000027 regulation of histogenesis and organogenesis MONDO:0002494 substance-related disorder biolink:Disease mondo MESH:D019966|NCIT:C92203|DOID:303 A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs). DOID:303|NCIT:C92203|MESH:D019966 http://purl.obolibrary.org/obo/MONDO_0002494 substance-related disorder MONDO:0002495 colon signet ring cell adenocarcinoma biolink:Disease mondo NCIT:C7967|UMLS:C1707436|DOID:3033 An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells. UMLS:C1707436|DOID:3033|NCIT:C7967 http://purl.obolibrary.org/obo/MONDO_0002495 signet Ring cell colon adenocarcinoma|colon signet ring adenocarcinoma|colon signet Ring cell adenocarcinoma|colonic signet Ring adenocarcinoma|signet Ring cell adenocarcinoma of the colon|signet Ring cell adenocarcinoma of colon|colonic signet Ring cell adenocarcinoma MONDO:0002496 submucosal invasive colon adenocarcinoma biolink:Disease mondo NCIT:C38760|DOID:3038|UMLS:C1515024 An adenocarcinoma of the colon that has invaded into the submucosa. NCIT:C38760|UMLS:C1515024|DOID:3038 http://purl.obolibrary.org/obo/MONDO_0002496 submucosal invasive colon adenocarcinoma MONDO:0002490 breast sarcoma biolink:Disease mondo DOID:3017|NCIT:C4670|SCTID:278050001|UMLS:C0349667|ONCOTREE:PBS A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma. SNOMEDCT:278050001|DOID:3017|UMLS:C0349667|NCIT:C4670 http://purl.obolibrary.org/obo/MONDO_0002490 sarcoma of breast|sarcoma of the breast|PBS|breast sarcoma MONDO:0002491 substance abuse biolink:Disease mondo COHD:4279309|ICD9:305.90|DOID:302|SCTID:66214007 The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed. SNOMEDCT:66214007|DOID:302|NCIT:C16522 http://purl.obolibrary.org/obo/MONDO_0002491 HGNC:25640 UFSP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25640 MONDO:0002492 acute kidney failure biolink:Disease mondo NCIT:C26808|ICD10:N17|MESH:D058186|DOID:3021 Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. DOID:3021|MESH:D058186|NCIT:C26808 http://purl.obolibrary.org/obo/MONDO_0002492 acute renal failure|kidney failure, acute|ARF|acute kidney injury|AKI HGNC:11005 SLC2A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11005 MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency biolink:Disease mondo Orphanet:445110|OMIM:616094|ICD10:G71.0|UMLS:C4015184 Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. UMLS:C4015184|ORPHA:445110|http://identifiers.org/omim/616094 http://purl.obolibrary.org/obo/MONDO_0014489 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12; MDDGC12|muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related|LGMD due to POMK deficiency|MDDGC12|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 ordo_disease MONDO:0014488 diabetes mellitus, noninsulin-dependent, 5 biolink:Disease mondo OMIM:616087|UMLS:C4015183 Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene. UMLS:C4015183|http://identifiers.org/omim/616087 http://purl.obolibrary.org/obo/MONDO_0014488 NIDDM5|diabetes mellitus, noninsulin-dependent, 5|diabetes mellitus, noninsulin-dependent, type 5|TBC1D4 type 2 diabetes mellitus|type 2 diabetes mellitus caused by mutation in TBC1D4|diabetes mellitus, noninsulin-dependent, 5; NIDDM5 MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome biolink:Disease mondo OMIM:616084|Orphanet:369861|ICD10:D64.0|UMLS:C4015172|DOID:0080209 Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful. DOID:0080209|UMLS:C4015172|ORPHA:369861|http://identifiers.org/omim/616084 http://purl.obolibrary.org/obo/MONDO_0014487 SIFD syndrome|sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay|sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; SIFD|SIFD ordo_disease HGNC:13666 AAAS biolink:OntologyClass mondo http://identifiers.org/hgnc/13666 GO:2000026 regulation of multicellular organismal development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of multicellular organismal development. http://purl.obolibrary.org/obo/GO_2000026 HGNC:11006 SLC2A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11006 MONDO:0014482 intellectual disability, autosomal dominant 29 biolink:Disease mondo DOID:0070059|GARD:0013379|OMIM:616078|UMLS:C4015141 Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene. UMLS:C4015141|http://identifiers.org/omim/616078|DOID:0070059 http://purl.obolibrary.org/obo/MONDO_0014482 autosomal dominant intellectual disability 29|mental retardation, autosomal dominant 29; MRD29|SETBP1-related intellectual disability|autosomal dominant non-syndromic intellectual disability 29|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1|mental retardation, autosomal dominant type 29|SETBP1 related developmental delay|intellectual disability, autosomal dominant 29|intellectual disability, autosomal dominant 29; MRD29|SETBP1-related disorder|intellectual disability, autosomal dominant type 29|MRD29|SETBP1 disorder|autosomal dominant mental retardation 29|mental retardation, autosomal dominant 29|SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome gard_rare MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 biolink:Disease mondo OMIM:616069|UMLS:C4015130 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene. UMLS:C4015130|http://identifiers.org/omim/616069 http://purl.obolibrary.org/obo/MONDO_0014481 inflammatory skin and bowel disease, neonatal, type 2|inflammatory skin and bowel disease, neonatal, 2|neonatal inflammatory skin and bowel disease caused by mutation in EGFR|inflammatory skin and bowel disease, neonatal, 2; NISBD2|NISBD2|EGFR neonatal inflammatory skin and bowel disease MONDO:0014480 46,XY sex reversal 9 biolink:Disease mondo OMIM:616067|UMLS:C4015129 UMLS:C4015129|http://identifiers.org/omim/616067 http://purl.obolibrary.org/obo/MONDO_0014480 46,XY sex reversal 9|46,XY Sex reversal type 9|46,XY SEX reversal 9; SRXY9|SRXY9|46,XY Sex reversal, Zfpm2-related MONDO:0014486 intellectual disability, autosomal dominant 30 biolink:Disease mondo DOID:0070060|OMIM:616083|UMLS:C4015167|GARD:0013136 Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene. UMLS:C4015167|http://identifiers.org/omim/616083|DOID:0070060 http://purl.obolibrary.org/obo/MONDO_0014486 mental retardation, autosomal dominant 30|autosomal dominant intellectual disability 30|intellectual disability, autosomal dominant type 30|autosomal dominant intellectual disability 30|intellectual disability, autosomal dominant 30; MRD30|autosomal dominant non-syndromic intellectual disability 30|autosomal dominant mental retardation 30|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11|MRD30|mental retardation, autosomal dominant 30; MRD30|mental retardation, autosomal dominant type 30|ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome|intellectual disability, autosomal dominant 30 MONDO:0014485 pontocerebellar hypoplasia, type 1C biolink:Disease mondo OMIM:616081|UMLS:C4015160 Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene. UMLS:C4015160|http://identifiers.org/omim/616081 http://purl.obolibrary.org/obo/MONDO_0014485 EXOSC8 pontocerebellar hypoplasia type 1|PCH1C|pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8|pontocerebellar hypoplasia, type 1C; PCH1C|hypomyelination with spinal muscular atrophy and cerebellar hypoplasia|pontocerebellar hypoplasia, type 1C MONDO:0014484 microcephaly 12, primary, autosomal recessive biolink:Disease mondo UMLS:C4015156|OMIM:616080|DOID:0070284 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene. UMLS:C4015156|http://identifiers.org/omim/616080|DOID:0070284 http://purl.obolibrary.org/obo/MONDO_0014484 autosomal recessive primary microcephaly caused by mutation in CDK6|microcephaly 12, primary, autosomal recessive|MCPH12|CDK6 autosomal recessive primary microcephaly|microcephaly 12, primary, autosomal recessive; MCPH12 MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies biolink:Disease mondo UMLS:C4015146|OMIM:616079|Orphanet:397758|ICD10:H35.5 UMLS:C4015146|http://identifiers.org/omim/616079|ORPHA:397758 http://purl.obolibrary.org/obo/MONDO_0014483 retinal dystrophy with inner nuclear layer and ganglion cell anomalies|RDGCA|retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities; RDGCA|retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities ordo_disease MONDO:0014479 porokeratosis 8, disseminated superficial actinic type biolink:Disease mondo OMIM:616063|UMLS:C4015128 UMLS:C4015128|http://identifiers.org/omim/616063 http://purl.obolibrary.org/obo/MONDO_0014479 POROK8|porokeratosis 8, disseminated superficial actinic type|porokeratosis 8, disseminated superficial actinic type; POROK8 MONDO:0014478 mirror movements 3 biolink:Disease mondo UMLS:C4015124|OMIM:616059 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene. UMLS:C4015124|http://identifiers.org/omim/616059 http://purl.obolibrary.org/obo/MONDO_0014478 MRMV3|mirror movements 3; MRMV3|familial congenital mirror movements caused by mutation in DNAL4|mirror movements 3|mirror movements type 3|DNAL4 familial congenital mirror movements MONDO:0014477 developmental and epileptic encephalopathy, 26 biolink:Disease mondo OMIM:616056|GARD:0012391|UMLS:C4015119 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene. UMLS:C4015119|http://identifiers.org/omim/616056 http://purl.obolibrary.org/obo/MONDO_0014477 KCNB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 26; EIEE26|epileptic encephalopathy, early infantile, 26|epileptic encephalopathy, early infantile, type 26|DEE26|EIEE26|early infantile epileptic encephalopathy caused by mutation in KCNB1|early infantile epileptic encephalopathy 26 gard_rare MONDO:0014476 episodic ataxia type 8 biolink:Disease mondo UMLS:C4015108|ICD10:G11.8|Orphanet:401953|DOID:0050996|OMIM:616055 ORPHA:401953|UMLS:C4015108|DOID:0050996|http://identifiers.org/omim/616055 http://purl.obolibrary.org/obo/MONDO_0014476 episodic ataxia with slurred speech|episodic ataxia, type 8; EA8|episodic ataxia type 8|episodic ataxia, type 8|EA8 ordo_disease HGNC:11013 SLC30A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11013 GO:2000035 regulation of stem cell division biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of stem cell division. http://purl.obolibrary.org/obo/GO_2000035 regulation of stem cell renewal HGNC:11019 SLC34A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11019 CHEBI:73182 plant activator biolink:ChemicalSubstance mondo Any compound that protects plants by activating their defence mechanisms. http://purl.obolibrary.org/obo/CHEBI_73182 plant activators CHEBI:73181 EC 1.11.1.11 (L-ascorbate peroxidase) inhibitor biolink:ChemicalSubstance mondo An EC 1.11.1.* (peroxidases) inhibitor that inhibits the action of L-ascorbate peroxidase (EC 1.11.1.11). http://purl.obolibrary.org/obo/CHEBI_73181 EC 1.11.1.11 inhibitors|ascorbic acid peroxidase inhibitors|L-ascorbic acid peroxidase inhibitors|ascorbate peroxidase inhibitors|L-ascorbate peroxidase inhibitors|L-ascorbate peroxidase inhibitor|L-ascorbic acid peroxidase inhibitor|ascorbate peroxidase inhibitor|ascorbic acid peroxidase inhibitor|EC 1.11.1.11 inhibitor|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitor|EC 1.11.1.11 (L-ascorbate peroxidase) inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitors|L-ascorbic acid-specific peroxidase inhibitors|L-ascorbic acid-specific peroxidase inhibitor|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitor MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency biolink:Disease mondo DOID:0111143|OMIMPS:604273|ICD10:E88.8|UMLS:C4015062|Orphanet:254913 A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). UMLS:C4015062|DOID:0111143|ORPHA:254913 http://purl.obolibrary.org/obo/MONDO_0014471 isolated ATP synthase deficiency|isolated mitochondrial respiratory chain complex V deficiency|mitochondrial complex V (ATP synthase) deficiency ordo_disease MONDO:0014470 autosomal dominant nonsyndromic deafness 65 biolink:Disease mondo ICD10:H90.3|OMIM:616044|UMLS:C3892048|DOID:0110586 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. UMLS:C3892048|DOID:0110586|http://identifiers.org/omim/616044 http://purl.obolibrary.org/obo/MONDO_0014470 deafness, autosomal dominant 65|deafness, autosomal dominant 65; DFNA65|autosomal dominant nonsyndromic deafness type 65|deafness, autosomal dominant type 65|TBC1D24 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24|DFNA65|autosomal dominant deafness 65 HGNC:13672 KLF13 biolink:OntologyClass mondo http://identifiers.org/hgnc/13672 MONDO:0014475 spinocerebellar ataxia type 40 biolink:Disease mondo GARD:0012371|EFO:0009057|DOID:0050986|UMLS:C4518336|OMIM:616053|Orphanet:423275|ICD10:G11.8|UMLS:CN219009|SCTID:734020000|UMLS:CN237494 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. UMLS:C4518336|ORPHA:423275|UMLS:CN237494|UMLS:CN219009|DOID:0050986|http://identifiers.org/omim/616053|SNOMEDCT:734020000 http://purl.obolibrary.org/obo/MONDO_0014475 SCA40|spinocerebellar ataxia 40|spinocerebellar ataxia 40; SCA40|spinocerebellar ataxia type 40 ordo_disease MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U biolink:Disease mondo Orphanet:352479|DOID:0110295|OMIM:616052|ICD10:G71.0|UMLS:C4015095 Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene. ORPHA:352479|UMLS:C4015095|DOID:0110295|http://identifiers.org/omim/616052 http://purl.obolibrary.org/obo/MONDO_0014474 muscular dystrophy limb-girdle type 2U|ISPD autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7|muscular dystrophy, limb-girdle, type 2U|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD|MDDGC7|muscular dystrophy-dystroglycanopathy (limb-girdle) type C7|LGMD2U|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; MDDGC7|autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency ordo_disease MONDO:0014473 microcephaly 13, primary, autosomal recessive biolink:Disease mondo UMLS:C4015080|OMIM:616051|DOID:0070283 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene. DOID:0070283|UMLS:C4015080|http://identifiers.org/omim/616051 http://purl.obolibrary.org/obo/MONDO_0014473 autosomal recessive primary microcephaly caused by mutation in CENPE|microcephaly 13, primary, autosomal recessive|MCPH13|CENPE autosomal recessive primary microcephaly|microcephaly 13, primary, autosomal recessive; MCPH13 MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome biolink:Disease mondo Orphanet:436166|ICD10:E85.0|UMLS:C4015067|OMIM:616050 UMLS:C4015067|ORPHA:436166|http://identifiers.org/omim/616050 http://purl.obolibrary.org/obo/MONDO_0014472 NLRC4-related MAS|AIFEC|NLRC4-related autoinflammatory syndrome with MAS|AUTOINFLAMMATION with infantile enterocolitis|NLRC4-related autoinflammatory syndrome with macrophage activation syndrome|NLRC4-related infantile enterocolitis-autoinflammatory syndrome|AUTOINFLAMMATION with infantile enterocolitis; AIFEC|NLRC4-related macrophage activation syndrome ordo_disease MONDO:0002479 Sertoli-Leydig cell tumor biolink:Disease mondo UMLS:C0206723|ONCOTREE:SLCT|MESH:D018310|DOID:2997|GARD:0009967 A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens. MESH:D018310|DOID:2997|UMLS:C0206723 http://purl.obolibrary.org/obo/MONDO_0002479 MONDO:0002475 lacrimal gland adenocarcinoma biolink:Disease mondo DOID:298|UMLS:C0346341|NCIT:C4541|SCTID:254988008 A carcinoma that arises from glandular epithelial cells of the lacrimal gland SNOMEDCT:254988008|NCIT:C4541|UMLS:C0346341|DOID:298 http://purl.obolibrary.org/obo/MONDO_0002475 lacrimal gland adenocarcinoma|adenocarcinoma of the lacrimal gland|adenocarcinoma of lacrimal gland MONDO:0002476 anuria biolink:Disease mondo MESH:D001002|UMLS:C0003460|DOID:2983 Absence of urine output. DOID:2983|UMLS:C0003460|MESH:D001002|NCIT:C114699 http://purl.obolibrary.org/obo/MONDO_0002476 suppression of urinary secretion MONDO:0002477 prostate neuroendocrine neoplasm biolink:Disease mondo NCIT:C5545|ONCOTREE:PRNE|UMLS:C1335515|DOID:2992 A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas. NCIT:C5545|DOID:2992|UMLS:C1335515 http://purl.obolibrary.org/obo/MONDO_0002477 prostate gland NET|neuroendocrine neoplasm of prostate|neuroendocrine neoplasm of the prostate|prostate gland neuroendocrine tumor|neuroendocrine neoplasm of prostate gland|neuroendocrine tumor of the prostate|prostate neuroendocrine neoplasm|prostate neuroendocrine carcinoma|prostate gland neuroendocrine neoplasm|prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade|prostate gland neuroendocrine tumor MONDO:0002478 mixed germ cell-sex cord-stromal tumor biolink:Disease mondo NCIT:C5241|DOID:2996|UMLS:C1321220 A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. NCIT:C5241|DOID:2996|UMLS:C1321220 http://purl.obolibrary.org/obo/MONDO_0002478 mixed germ cell-Sex cord-stromal tumor|mixed germ cell-sex cord-stromal tumor (morphologic abnormality)|mixed germ cell-Sex cord-stromal neoplasm|mixed germ cell-Sex cord neoplasm|mixed germ cell-Sex cord tumor MONDO:0002471 bursitis biolink:Disease mondo ICD10:M71.9|SCTID:84017003|UMLS:C0006444|MESH:D002062|DOID:2965|ICD9:727.3|COHD:134453|NCIT:C94407 Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. MESH:D002062|NCIT:C94407|SNOMEDCT:84017003|UMLS:C0006444|DOID:2965 http://purl.obolibrary.org/obo/MONDO_0002471 capsulitis|Capsulitides|adhesive capsulitis, shoulder|adhesive Capsulitides, shoulder|shoulder adhesive capsulitis|adhesive capsulitis|Bursitides|shoulder adhesive Capsulitides|adhesive Capsulitides|shoulders, frozen|capsulitis, adhesive|Capsulitides, adhesive|Capsulitides, shoulder adhesive|shoulder, frozen|capsulitis, shoulder adhesive|frozen shoulders|frozen shoulder|synovial bursa inflammation|adhesive capsulitis of the shoulder|inflammation of synovial bursa MONDO:0002472 carcinoma ex pleomorphic adenoma biolink:Disease mondo ICDO:8941/3|UMLS:C0344460|NCIT:C4397 A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases. NCIT:C4397|UMLS:C0344460 http://purl.obolibrary.org/obo/MONDO_0002472 carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma (morphologic abnormality)|carcinoma in pleomorphic adenoma MONDO:0002473 cystic kidney disease biolink:Disease mondo COHD:193016|ICD10:Q61|DOID:2975|SCTID:722223000|UMLS:C0022679|NCIT:C34750|MESH:D052177 A congenital or acquired kidney disorder characterized by the presence of renal cysts. UMLS:C0022679|DOID:2975|SNOMEDCT:722223000|NCIT:C34750|MESH:D052177 http://purl.obolibrary.org/obo/MONDO_0002473 kidney cyst|renal cyst UBERON:0035267 neck of gallbladder biolink:AnatomicalEntity mondo The narrowest portion of the gallbladder and distal to the cystic duct. http://purl.obolibrary.org/obo/UBERON_0035267 cervix of gallbladder|gallbladder neck MONDO:0002474 primary hyperoxaluria biolink:Disease mondo MESH:D006960|ICD9:271.8|DOID:2977|OMIMPS:259900|ICD10:E72.53|SCTID:17901006|NCIT:C123158|Orphanet:416|ICD10:E74.8|MedDRA:10020703|UMLS:C0020501 A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. MESH:D006960|MESH:D006959|DOID:2977|NCIT:C123158|UMLS:C0020501|UMLS:C0020500|ORPHA:416|SNOMEDCT:17901006|MEDDRA:10020703 http://purl.obolibrary.org/obo/MONDO_0002474 hyperoxaluria, primary|primary hyperoxaluria ordo_disease MONDO:0002470 photosensitive trichothiodystrophy biolink:Disease mondo Orphanet:453|GARD:0002944|DOID:2960|UMLS:CN205101 A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway ORPHA:453|UMLS:CN205101|DOID:2960 http://purl.obolibrary.org/obo/MONDO_0002470 trichothiodystrophy with congenital ichtyosis|trichothiodystrophy with congenital ichthyosis|IBIDS syndrome|Tay syndrome|Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature|sulfur-deficient brittle hair syndrome|trichothiodystrophy gard_rare MONDO:0014468 congenital myasthenic syndrome 7 biolink:Disease mondo OMIM:616040|UMLS:C4015038|DOID:0110659 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene. http://identifiers.org/omim/616040|UMLS:C4015038|DOID:0110659 http://purl.obolibrary.org/obo/MONDO_0014468 CMS7|myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy|congenital myasthenic syndrome type 7|SYT2 congenital myasthenic syndrome|myasthenic syndrome, congenital, 7, presynaptic|myasthenic syndrome, congenital, 7, presynaptic; CMS7|congenital myasthenic syndrome 7 presynaptic|congenital myasthenic syndrome caused by mutation in SYT2 MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate d biolink:Disease mondo DOID:0110203|UMLS:C4015029|ICD10:G60.0|OMIM:616039|Orphanet:435998 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene. UMLS:C4015029|DOID:0110203|http://identifiers.org/omim/616039|ORPHA:435998 http://purl.obolibrary.org/obo/MONDO_0014467 Charcot-Marie-Tooth disease, recessive intermediate D|Charcot-Marie-Tooth disease, recessive intermediate D; CMTRID|CMTRID|RI-CMT type D|Charcot-Marie-Tooth disease recessive intermediate type D|autosomal recessive intermediate Charcot-Marie-Tooth disease type D|Charcot-Marie-Tooth disease, recessive Intermediate type D|Charcot-Marie-Tooth disease caused by mutation in COX6A1|COX6A1 Charcot-Marie-Tooth disease ordo_disease MONDO:0014466 Neu-Laxova syndrome 2 biolink:Disease mondo UMLS:C4015019|OMIM:616038|DOID:0080075 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene. DOID:0080075|UMLS:C4015019|http://identifiers.org/omim/616038 http://purl.obolibrary.org/obo/MONDO_0014466 NEU-Laxova syndrome 2; NLS2|Neu-Laxova syndrome 2|PSAT1 Neu-Laxova syndrome|NLS2|Neu-Laxova syndrome type 2|Neu-Laxova syndrome caused by mutation in PSAT1 MONDO:0014465 primary ciliary dyskinesia 30 biolink:Disease mondo ICD10:Q34.8|UMLS:C4015016|OMIM:616037|DOID:0110624 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene. UMLS:C4015016|http://identifiers.org/omim/616037|DOID:0110624 http://purl.obolibrary.org/obo/MONDO_0014465 ciliary dyskinesia, primary, type 30|primary ciliary dyskinesia type 30|ciliary dyskinesia, primary, 30; CILD30|primary ciliary dyskinesia caused by mutation in CCDC151|ciliary dyskinesia, primary, 30|primary ciliary dyskinesia 30 without situs inversus|CCDC151 primary ciliary dyskinesia|ciliary dyskinesia, primary, 30, with or without situs inversus|CILD30 MONDO:0014469 autosomal recessive nonsyndromic deafness 103 biolink:Disease mondo UMLS:C4015050|DOID:0110464|ICD10:H90.3|OMIM:616042 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene. http://identifiers.org/omim/616042|UMLS:C4015050|DOID:0110464 http://purl.obolibrary.org/obo/MONDO_0014469 deafness, autosomal recessive type 103|CLIC5 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 103; DFNB103|autosomal recessive nonsyndromic deafness caused by mutation in CLIC5|autosomal recessive deafness 103|DFNB103|autosomal recessive nonsyndromic deafness type 103|deafness, autosomal recessive 103 MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome biolink:Disease mondo Orphanet:423454|UMLS:C4014987|OMIM:616029|ICD10:Q82.8 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. ORPHA:423454|http://identifiers.org/omim/616029|UMLS:C4014987 http://purl.obolibrary.org/obo/MONDO_0014460 short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome|ectodermal dysplasia/short stature syndrome|ectodermal dysplasia/short stature syndrome; ECTDS|ectodermal dysplasia-short stature syndrome|ECTDS ordo_disease MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency biolink:Disease mondo ICD10:G31.8|UMLS:C1857252|GARD:0010327|MESH:C565624|OMIM:616034|Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop. ORPHA:431361|UMLS:C1857252|MESH:C565624|http://identifiers.org/omim/616034 http://purl.obolibrary.org/obo/MONDO_0014464 2,4-dienoyl-CoA reductase deficiency|2,4-alpha dienoyl-CoA reductase deficiency|DECR deficiency with hyperlysinemia|DECRD|dienoyl-CoA reductase deficiency|2,4-dienoyl-CoA reductase deficiency; DECRD ordo_disease MONDO:0014463 obsolete microcephaly, short stature, and impaired glucose metabolism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0014463 MONDO:0014462 focal segmental glomerulosclerosis 8 biolink:Disease mondo DOID:0111133|OMIM:616032|UMLS:C4014993|ICD10:N04.1 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. DOID:0111133|http://identifiers.org/omim/616032|UMLS:C4014993 http://purl.obolibrary.org/obo/MONDO_0014462 focal segmental glomerulosclerosis 8; FSGS8|glomerulosclerosis, focal segmental, 8|focal segmental glomerulosclerosis 8|FSGS8|focal segmental glomerulosclerosis type 8|focal segmental glomerulosclerosis caused by mutation in ANLN|ANLN focal segmental glomerulosclerosis MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia biolink:Disease mondo DOID:0090081|UMLS:C4014988|ICD10:E23.0|OMIM:616030 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene. DOID:0090081|UMLS:C4014988|http://identifiers.org/omim/616030 http://purl.obolibrary.org/obo/MONDO_0014461 hypogonadotropic hypogonadism 22 with or without anosmia; HH22|hypogonadotropic hypogonadism 22 with or without anosmia|FEZF1 hypogonadotropic hypogonadism|HH22|hypogonadotropic hypogonadism caused by mutation in FEZF1 MONDO:0002486 lobular neoplasia biolink:Disease mondo UMLS:C0861352|NCIT:C27939|DOID:3010 A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma. NCIT:C27939|UMLS:C0861352|DOID:3010 http://purl.obolibrary.org/obo/MONDO_0002486 lobular intraepithelial neoplasia|lobular carcinoma in situ|lobular neoplasia|LN|LIN MONDO:0002487 breast granular cell tumor biolink:Disease mondo UMLS:C1511312|NCIT:C40400|DOID:3011 A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm. NCIT:C40400|DOID:3011|UMLS:C1511312 http://purl.obolibrary.org/obo/MONDO_0002487 breast granular cell tumor|granular cell tumor of breast MONDO:0002488 intraductal breast neoplasm biolink:Disease mondo UMLS:C0948967|NCIT:C36083|DOID:3013 A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ. NCIT:C36083|UMLS:C0948967|DOID:3013 http://purl.obolibrary.org/obo/MONDO_0002488 intraductal breast neoplasm MONDO:0002489 malignant breast phyllodes tumor biolink:Disease mondo ONCOTREE:MPT|NCIT:C4504|EFO:0008545|DOID:3016|SCTID:254844000 A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present. NCIT:C4504|DOID:3016|SNOMEDCT:254844000 http://purl.obolibrary.org/obo/MONDO_0002489 malignant cystosarcoma phyllodes of the breast|phyllodes breast neoplasm|malignant mammary phyllodes tumor|malignant breast phyllodes neoplasm|malignant cystosarcoma phyllodes|malignant phyllodes tumor|breast phyllodes tumor, malignant|breast malignant phyllodes tumor|malignant breast phyllodes tumor|malignant phyllodes neoplasm|phyllodes breast tumor|malignant mammary phyllodes neoplasm|malignant phyllodes tumor (morphologic abnormality)|malignant phyllodes breast neoplasm|malignant phyllodes neoplasm of breast|phyllodes tumor, malignant (morphologic abnormality)|malignant phyllodes neoplasm of the breast|phyllodes tumor, malignant|malignant cystosarcoma phyllodes (morphologic abnormality)|malignant phyllodes tumor of breast|malignant cystosarcoma phyllodes of breast|malignant phyllodes tumor of the breast MONDO:0002482 nipple neoplasm biolink:Disease mondo NCIT:C5212|DOID:3003|UMLS:C1112166 A benign or malignant neoplasm that arises in the area of the nipple. DOID:3003|NCIT:C5212|UMLS:C1112166 http://purl.obolibrary.org/obo/MONDO_0002482 nipple tumor|tumor of the nipple|nipple neoplasm|neoplasm of the nipple|nipple neoplasm (disease)|tumor of nipple|neoplasm of nipple MONDO:0002483 breast myoepithelial tumor biolink:Disease mondo DOID:3004|NCIT:C40389|UMLS:C1511319 A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma. NCIT:C40389|DOID:3004|UMLS:C1511319 http://purl.obolibrary.org/obo/MONDO_0002483 breast myoepithelial tumor|breast myoepithelial neoplasm MONDO:0002484 obsolete breast ductal carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002484 MONDO:0002485 breast neuroendocrine neoplasm biolink:Disease mondo DOID:3009|NCIT:C5169|UMLS:C1332635 A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare. UMLS:C1332635|DOID:3009|NCIT:C5169 http://purl.obolibrary.org/obo/MONDO_0002485 breast neuroendocrine tumor, well differentiated, low or intermediate grade|breast neuroendocrine tumor|breast endocrine neoplasm|neuroendocrine neoplasm of the breast|breast neuroendocrine neoplasm|neuroendocrine tumor of the breast|breast neuroendocrine tumor|breast NET|neuroendocrine neoplasm of breast MONDO:0002480 endometrioid tumor biolink:Disease mondo UMLS:C0474809|NCIT:C7113|EFO:0009118|DOID:3001 A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. DOID:3001|NCIT:C7113|UMLS:C0474809 http://purl.obolibrary.org/obo/MONDO_0002480 endometrioid neoplasm|female reproductive endometrioid neoplasm|endometrioid neoplasm of female reproductive system|female reproductive endometrioid cancer|endometrioid neoplasm of the female reproductive system|endometrioid tumor of female reproductive system|endometrioid tumor (morphologic abnormality)|endometrioid tumor of the female reproductive system|endometrioid tumor|female reproductive endometrioid tumor MONDO:0002481 ovarian neuroendocrine neoplasm biolink:Disease mondo NCIT:C5237|UMLS:C1335172|DOID:3002 An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. DOID:3002|NCIT:C5237|UMLS:C1335172 http://purl.obolibrary.org/obo/MONDO_0002481 ovary NET|ovary neuroendocrine tumor, well differentiated, low or intermediate grade|ovary neuroendocrine tumor|neuroendocrine neoplasm of ovary|ovary neuroendocrine tumor|neuroendocrine neoplasm of the ovary|ovarian neuroendocrine neoplasm|neuroendocrine tumor of ovary|ovary neuroendocrine neoplasm MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 biolink:Disease mondo UMLS:C4014958|OMIM:616025 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene. UMLS:C4014958|http://identifiers.org/omim/616025 http://purl.obolibrary.org/obo/MONDO_0014457 hyperphosphatasia with mental retardation syndrome 5|hyperphosphatasia with intellectual disability syndrome 5|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW|glycosylphosphatidylinositol biosynthesis defect 11|glycosylphosphatidylinositol biosynthesis defect 11; GPIBD11|PIGW hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome type 5|GPIBD11|hyperphosphatasia with intellectual disability syndrome 5; HPMRS5|hyperphosphatasia with mental retardation syndrome type 5|HPMRS5|hyperphosphatasia with mental retardation syndrome 5; HPMRS5 MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency biolink:Disease mondo OMIM:616022|Orphanet:423384|ICD10:D70|UMLS:C4014954 UMLS:C4014954|http://identifiers.org/omim/616022|ORPHA:423384 http://purl.obolibrary.org/obo/MONDO_0014456 SCN6|neutropenia, severe congenital, 6, autosomal recessive; SCN6|neutropenia, severe congenital, 6, autosomal recessive ordo_disease MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C4014942|Orphanet:436174|OMIM:616007 UMLS:C4014942|http://identifiers.org/omim/616007|ORPHA:436174 http://purl.obolibrary.org/obo/MONDO_0014455 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia; CAGSSS|cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia|CAGSSS ordo_disease MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 biolink:Disease mondo OMIM:616006|UMLS:C4014939 Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene. http://identifiers.org/omim/616006|UMLS:C4014939 http://purl.obolibrary.org/obo/MONDO_0014454 FAT4 Hennekam syndrome|Hennekam lymphangiectasia-lymphedema syndrome 2|HKLLS2|Hennekam lymphangiectasia-lymphedema syndrome type 2|Hennekam syndrome caused by mutation in FAT4|Hennekam lymphangiectasia-lymphedema syndrome 2; HKLLS2 MONDO:0014459 Adams-Oliver syndrome 5 biolink:Disease mondo OMIM:616028|UMLS:C4014970 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene. http://identifiers.org/omim/616028|UMLS:C4014970 http://purl.obolibrary.org/obo/MONDO_0014459 NOTCH1 Adams-Oliver syndrome|Notch1 Adams-Oliver syndrome|AOS5|Adams-Oliver syndrome 5; AOS5|Adams-Oliver syndrome caused by mutation in Notch1|Adams-Oliver syndrome caused by mutation in NOTCH1|Adams-Oliver syndrome type 5|Adams-Oliver syndrome 5 MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young biolink:Disease mondo OMIM:616026|UMLS:C4014962 Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. UMLS:C4014962|http://identifiers.org/omim/616026 http://purl.obolibrary.org/obo/MONDO_0014458 Fanconi syndrome caused by mutation in HNF4A|Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young; FRTS4|FRTS4|HNF4A Fanconi syndrome|FRTS4 with MODY|Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young MONDO:0014453 immunodeficiency 36 biolink:Disease mondo UMLS:C4014934|OMIM:616005 UMLS:C4014934|http://identifiers.org/omim/616005 http://purl.obolibrary.org/obo/MONDO_0014453 immunodeficiency 36|IMD36|immunodeficiency type 36|immunodeficiency 36; IMD36 MONDO:0014452 familial dysfibrinogenemia biolink:Disease mondo Orphanet:98881|ICD9:286.3|ICD10:D68.2|UMLS:CN207171|OMIM:616004|UMLS:C1260903|SCTID:111589005|GARD:0002004|NCIT:C131659 Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen. UMLS:C1260903|SNOMEDCT:111589005|UMLS:CN207171|ORPHA:98881|NCIT:C131659|http://identifiers.org/omim/616004 http://purl.obolibrary.org/obo/MONDO_0014452 congenital dysfibrinogenemia|dysfibrinogenemia|familial dysfibrinogenemia|dysfibrinogenemia, familial|dysfibrinogenemia, congenital|hypodysfibrinogenemia, congenital gard_rare|ordo_clinical_subtype MONDO:0014451 focal segmental glomerulosclerosis 7 biolink:Disease mondo UMLS:C4014925|DOID:0111132|OMIM:616002|ICD10:N04.1 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. DOID:0111132|UMLS:C4014925|http://identifiers.org/omim/616002 http://purl.obolibrary.org/obo/MONDO_0014451 focal segmental glomerulosclerosis caused by mutation in PAX2|FSGS7|focal segmental glomerulosclerosis 7; FSGS7|glomerulosclerosis, focal segmental, 7|focal segmental glomerulosclerosis 7|focal segmental glomerulosclerosis type 7|PAX2 focal segmental glomerulosclerosis MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 biolink:Disease mondo OMIM:616001|UMLS:C4014918 Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene. http://identifiers.org/omim/616001|UMLS:C4014918 http://purl.obolibrary.org/obo/MONDO_0014450 PTPRF isolated congenital breast hypoplasia/aplasia|breasts and/or nipples, aplasia or hypoplasia of, 2|isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF|breasts and/or nipples, aplasia or hypoplasia of, 2; BNAH2|BNAH2|breasts and/or nipples, aplasia or hypoplasia of, type 2 MONDO:0004911 cardiovascular syphilis biolink:Disease mondo ICD9:093.89|DOID:9880|ICD9:093.8|SCTID:83883001|ICD9:093.9|UMLS:C0039130 A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. DOID:9880|SNOMEDCT:83883001|UMLS:C0039130 http://purl.obolibrary.org/obo/MONDO_0004911 MONDO:0004910 mitral valve prolapse (disease) biolink:Disease mondo OMIMPS:157700|COHD:4252872|NCIT:C50655|DOID:988|HP:0001634|SCTID:409712001 A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. DOID:988|NCIT:C50655|SNOMEDCT:409712001 http://purl.obolibrary.org/obo/MONDO_0004910 mitral leaflet syndrome|mitral valve prolapse syndrome|mitral valve prolapse|myxomatous mitral valve prolapse|mitral valve prolapse, myxomatous|valve, prolapse Of mitral|systolic click-murmur syndrome|floppy mitral valve|barlow's syndrome|prolapse, mitral valve MONDO:0004913 alternating esotropia biolink:Disease mondo SCTID:39837002|UMLS:C0152205|COHD:381031|ICD10:H50.05|ICD9:378.05|DOID:9888 UMLS:C0152205|DOID:9888|SNOMEDCT:39837002 http://purl.obolibrary.org/obo/MONDO_0004913 MONDO:0004912 obsolete muscular dystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004912 HGNC:25726 LAS1L biolink:OntologyClass mondo http://identifiers.org/hgnc/25726 CHEBI:24129 furans biolink:ChemicalSubstance mondo Compounds containing at least one furan ring. http://purl.obolibrary.org/obo/CHEBI_24129 oxacyclopenta-2,4-dienes UBERON:0001549 dorsal metatarsal vein biolink:AnatomicalEntity mondo The dorsal metatarsal veins are veins which drain the metatarsus of the foot. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001549 venae metatarsales dorsales|metatarsal vein CL:1001428 bladder urothelial cell biolink:Cell mondo KUPO:0001121 http://purl.obolibrary.org/obo/CL_1001428 MONDO:0016900 partial deletion of the long arm of chromosome 1 biolink:Disease mondo ICD10:Q93.5|Orphanet:262001 ORPHA:262001 http://purl.obolibrary.org/obo/MONDO_0016900 partial monosomy of the long arm of chromosome 1|partial monosomy of chromosome 1q|partial deletion of chromosome 1q|partial deletion of the long arm of chromosome type 1 ordo_group_of_disorders MONDO:0016901 partial deletion of the long arm of chromosome 2 biolink:Disease mondo UMLS:C0795804|ICD10:Q93.5|GARD:0003744|Orphanet:262010|MESH:C538315 Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. ORPHA:262010|MESH:C538315|UMLS:C0795804 http://purl.obolibrary.org/obo/MONDO_0016901 deletion 2q|2q deletion|2q monosomy|partial monosomy of chromosome 2q|partial deletion of chromosome 2q|partial deletion of the long arm of chromosome type 2|chromosome 2q deletion|partial monosomy 2q|partial monosomy of the long arm of chromosome 2|monosomy 2q gard_rare|ordo_group_of_disorders MONDO:0016902 partial deletion of the long arm of chromosome 3 biolink:Disease mondo Orphanet:262019|ICD10:Q93.5 ORPHA:262019 http://purl.obolibrary.org/obo/MONDO_0016902 partial monosomy of chromosome 3q|partial deletion of the long arm of chromosome type 3|partial deletion of chromosome 3q|partial monosomy of the long arm of chromosome 3 ordo_group_of_disorders MONDO:0016903 partial deletion of the long arm of chromosome 4 biolink:Disease mondo Orphanet:262029|MESH:C537639|ICD10:Q93.5|GARD:0001340 Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. ORPHA:262029|MESH:C537639 http://purl.obolibrary.org/obo/MONDO_0016903 partial deletion of the long arm of chromosome type 4|partial monosomy of chromosome 4q|chromosome 4q deletion|partial deletion of chromosome 4q|partial monosomy of the long arm of chromosome 4|partial monosomy 4q|monosomy 4q|4q deletion|deletion 4q|4q monosomy gard_rare|ordo_group_of_disorders UBERON:8300002 left forelimb biolink:AnatomicalEntity mondo A forelimb that is on the left side of a pectoral complex. http://purl.obolibrary.org/obo/UBERON_8300002 UBERON:0013525 stomach lumen biolink:AnatomicalEntity mondo The anatomical space that is enclosed by a stomach. http://purl.obolibrary.org/obo/UBERON_0013525 gastric cavity|cavity of stomach UBERON:8300001 right forelimb biolink:AnatomicalEntity mondo A forelimb that is on the right side of a pectoral complex. http://purl.obolibrary.org/obo/UBERON_8300001 UBERON:0013526 otocyst lumen biolink:AnatomicalEntity mondo A anatomical cavity that is part of a ear vesicle. http://purl.obolibrary.org/obo/UBERON_0013526 lumen of otocyst HGNC:13743 ALOXE3 biolink:OntologyClass mondo http://identifiers.org/hgnc/13743 UBERON:8300004 left hindlimb biolink:AnatomicalEntity mondo A hindlimb that is on the left side of a pelvic complex. http://purl.obolibrary.org/obo/UBERON_8300004 UBERON:8300003 right hindlimb biolink:AnatomicalEntity mondo A hindlimb that is on the right side of a pelvic complex. http://purl.obolibrary.org/obo/UBERON_8300003 UBERON:0001554 skin of hip biolink:AnatomicalEntity mondo A zone of skin that is part of a hip region. http://purl.obolibrary.org/obo/UBERON_0001554 hip zone of skin|zone of skin of hip region|zone of skin of regio coxae|hip skin|hip region zone of skin|regio coxae zone of skin|zone of skin of hip MONDO:0004908 obsolete galactosemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004908 MONDO:0004907 alopecia biolink:Disease mondo NCIT:C50575|Orphanet:79364|COHD:133280|SCTID:56317004|UMLS:C0002170|ICD10:L65.9|ICD9:704.09|ICD9:704.0|ICD9:704.00|MESH:D000505|DOID:987 Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions. ORPHA:79364|SNOMEDCT:56317004|UMLS:C0002170|MESH:D000505|NCIT:C50575|DOID:987 http://purl.obolibrary.org/obo/MONDO_0004907 alopecia|alopecia areata|hair loss|loss Of hair ordo_group_of_disorders UBERON:0001556 lower urinary tract biolink:AnatomicalEntity mondo Subdivision of urinary system which consists of the urinary bladder and the urethra. http://purl.obolibrary.org/obo/UBERON_0001556 MONDO:0004909 urethral gland abscess biolink:Disease mondo DOID:9877|ICD9:597.0|SCTID:444820005|ICD10:N34.0 DOID:9877|SNOMEDCT:444820005 http://purl.obolibrary.org/obo/MONDO_0004909 UBERON:0001555 digestive tract biolink:AnatomicalEntity mondo A tube extending from the mouth to the anus. http://purl.obolibrary.org/obo/UBERON_0001555 digestive tube|alimentary canal|gut|digestive canal|gut tube|alimentary tract|enteric tract MONDO:0004904 toxic maculopathy biolink:Disease mondo ICD9:362.55|SCTID:44115007|ICD10:H35.38|UMLS:C0271086|COHD:377848|DOID:9867 SNOMEDCT:44115007|DOID:9867|UMLS:C0271086 http://purl.obolibrary.org/obo/MONDO_0004904 toxic maculopathy of retina MONDO:0004903 deep keratitis biolink:Disease mondo ICD9:370.59|UMLS:C2960633|ICD9:370.5|SCTID:445741003|DOID:9858|ICD10:H16.3 UMLS:C2960633|DOID:9858|SNOMEDCT:445741003 http://purl.obolibrary.org/obo/MONDO_0004903 MONDO:0004906 obsolete hereditary fructose intolerance syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004906 MONDO:0004905 intestinal disaccharidase deficiency biolink:Disease mondo NCIT:C34731|EFO:1000060|SCTID:22169002|COHD:192286|ICD9:271.3|DOID:9868 Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age. DOID:9868|SNOMEDCT:22169002|NCIT:C34731 http://purl.obolibrary.org/obo/MONDO_0004905 intestinal disaccharidase deficiency and disaccharide malabsorption|intestinal disaccharide deficiency and disaccharide malabsorption MONDO:0004922 developmental coordination disorder biolink:Disease mondo ICD9:315.4|COHD:440388|DOID:9923|SCTID:27544004|NCIT:C92561|ICD10:F82|UMLS:C0520947|MESH:D019957 A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition. DOID:9923|UMLS:C0520947|SNOMEDCT:27544004|NCIT:C92561|MESH:D019957 http://purl.obolibrary.org/obo/MONDO_0004922 development coordination disorder|clumsy child syndrome|developmental dyspraxia MONDO:0004921 obsolete Omsk hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004921 MONDO:0004924 chronic canaliculitis biolink:Disease mondo UMLS:C0155240|ICD9:375.41|SCTID:26479009|DOID:9936|ICD10:H04.42 Chronic form of actinomycosis. DOID:9936|SNOMEDCT:26479009|UMLS:C0155240 http://purl.obolibrary.org/obo/MONDO_0004924 chronic actinomycosis|actinomycosis, chronic HP:0008372 Abnormality of vitamin A metabolism biolink:PhenotypicFeature mondo UMLS:C4024686 http://purl.obolibrary.org/obo/HP_0008372 MONDO:0004923 chronic inflammation of lacrimal passage biolink:Disease mondo ICD9:375.4|SCTID:267653001|DOID:9935|UMLS:C0155239|ICD10:H04.4 DOID:9935|UMLS:C0155239|SNOMEDCT:267653001 http://purl.obolibrary.org/obo/MONDO_0004923 UBERON:0001536 left common carotid artery plus branches biolink:AnatomicalEntity mondo The leftmost of the two common carotid arteries, originating from the aortic arch in the thorax. http://purl.obolibrary.org/obo/UBERON_0001536 trunk of left common carotid tree|left common carotid artery|left common carotid artery UBERON:0001535 vertebral artery biolink:AnatomicalEntity mondo the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck http://purl.obolibrary.org/obo/UBERON_0001535 vertebral arteries|arteria vertebralis HGNC:25737 NHEJ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25737 MONDO:0004920 hydrocele biolink:Disease mondo COHD:76737|ICD9:603.8|SCTID:55434001|DOID:9912|ICD9:603.9 DOID:9912|SNOMEDCT:55434001 http://purl.obolibrary.org/obo/MONDO_0004920 UBERON:0013522 subdivision of tube biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013522 UBERON:8300000 skin of scalp biolink:AnatomicalEntity mondo A zone of skin that is part of a scalp. http://purl.obolibrary.org/obo/UBERON_8300000 zone of skin of adult scalp|adult scalp zone of skin|scalp zone of skin|zone of skin of scalp|scalp skin UBERON:0013514 space surrounding organism biolink:AnatomicalEntity mondo The space that surrounds an organism. http://purl.obolibrary.org/obo/UBERON_0013514 external to organism|outside of body UBERON:0013515 subdivision of oviduct biolink:AnatomicalEntity mondo A section through the tube or network of tubes that connects the ovaries to the outside of the body. http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of uterine tube|subdivision of fallopian tube|zone of uterine tube|subdivision of oviduct|uterine tube zone MONDO:0004919 infected hydrocele biolink:Disease mondo ICD10:N43.1|SCTID:11666007|UMLS:C0156300|COHD:74998|ICD9:603.1|DOID:9911 DOID:9911|SNOMEDCT:11666007|UMLS:C0156300 http://purl.obolibrary.org/obo/MONDO_0004919 UBERON:0001543 popliteal lymph node biolink:AnatomicalEntity mondo the lymph nodes which drain the legs; contained in the popliteal fossa http://purl.obolibrary.org/obo/UBERON_0001543 popliteal glands|popliteal lymph node|popliteal lymph glands UBERON:0001542 inguinal lymph node biolink:AnatomicalEntity mondo the lymph nodes located in the groin area http://purl.obolibrary.org/obo/UBERON_0001542 MONDO:0004918 central corneal ulcer biolink:Disease mondo SCTID:7426009|COHD:380402|UMLS:C0155069|ICD9:370.03|ICD10:H16.01|DOID:9910 DOID:9910|SNOMEDCT:7426009|UMLS:C0155069 http://purl.obolibrary.org/obo/MONDO_0004918 MONDO:0004915 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004915 MONDO:0004914 median arcuate ligament syndrome biolink:Disease mondo SCTID:9250002|DOID:9892|GARD:0012308|ICD10:I77.4|COHD:194393|ICD9:447.4 A syndromic disease that involves the median arcuate ligament. DOID:9892|SNOMEDCT:9250002 http://purl.obolibrary.org/obo/MONDO_0004914 median arcuate ligament syndromic disease|Harjola-Marable syndrome|syndromic disease of median arcuate ligament|Marable's syndrome|celiac access syndrome|celiac artery compression syndrome MONDO:0004917 internal hordeolum biolink:Disease mondo COHD:377560|SCTID:414521009|DOID:9908|ICD9:373.12|ICD10:H00.02|UMLS:C0085690 A hordeolum that results from infection of a meibomian gland. DOID:9908|UMLS:C0085690|SNOMEDCT:414521009 http://purl.obolibrary.org/obo/MONDO_0004917 tarsal gland hordeolum|infection of meibomian gland|infected cyst of meibomian gland|infected meibomian cyst|meibomian adenitis|hordeolum of tarsal gland|hordeolum internum|infected chalazion|internal hordeolum MONDO:0004916 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004916 UBERON:0001528 radio-ulnar joint biolink:AnatomicalEntity mondo A joint that connects the radius and the ulna. Examples: proximal and distal radio-ulnar joints http://purl.obolibrary.org/obo/UBERON_0001528 articulation of the radus and ulna|radioulnar joint|radioulnar articulation HGNC:25705 KCTD17 biolink:OntologyClass mondo http://identifiers.org/hgnc/25705 CHEBI:26764 steroid hormone biolink:ChemicalSubstance mondo Any steroid that acts as hormone. http://purl.obolibrary.org/obo/CHEBI_26764 Steroidhormon|hormones steroides|Steroidhormone|hormone steroide|steroid hormones|hormonas esteroideas|hormona esteroide CHEBI:51721 alpha,beta-unsaturated ketone biolink:ChemicalSubstance mondo A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position. http://purl.obolibrary.org/obo/CHEBI_51721 alpha,beta-unsaturated ketones CHEBI:26766 steroid lactone biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26766 steroid lactones HP:0011996 Elevated coagulation factor V activity biolink:PhenotypicFeature mondo UMLS:C4021106 Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. http://purl.obolibrary.org/obo/HP_0011996 Plasma factor V elevated|Elevated factor V activity UBERON:0013510 lumbar vertebra pre-cartilage condensation biolink:AnatomicalEntity mondo A lumbar vertebra endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0013510 NCBITaxon:83136 Trombidiformes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_83136 NCBITaxon:83137 Sarcoptiformes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_83137 NCBITaxon:83138 Anystina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_83138 Anystides UBERON:0013507 thoracic vertebra cartilage element biolink:AnatomicalEntity mondo A thoracic vertebra endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0013507 thoracic vertebral cartilage condensation group HGNC:13723 CTCF biolink:OntologyClass mondo http://identifiers.org/hgnc/13723 UBERON:0013508 thoracic vertebra pre-cartilage condensation biolink:AnatomicalEntity mondo A thoracic vertebra endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0013508 UBERON:0013509 lumbar vertebra cartilage element biolink:AnatomicalEntity mondo A lumbar vertebra endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0013509 lumbar vertebral cartilage condensation group UBERON:0013503 caudal vertebra cartilage element biolink:AnatomicalEntity mondo A caudal vertebra endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0013503 tail vertebral cartilage condensation|coccygeal vertebra cartilage element|coccygeal vertebral cartilage condensation group UBERON:0013504 caudal vertebra pre-cartilage condensation biolink:AnatomicalEntity mondo A caudal vertebra endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0013504 coccygeal vertebra pre-cartilage condensation|tail vertebral pre-cartilage condensation UBERON:0013505 cervical vertebra cartilage element biolink:AnatomicalEntity mondo A cervical vertebra endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0013505 cervical vertebral cartilage condensation group UBERON:0013506 cervical vertebra pre-cartilage condensation biolink:AnatomicalEntity mondo A cervical vertebra endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0013506 UBERON:0001532 internal carotid artery biolink:AnatomicalEntity mondo A terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes[MP] http://purl.obolibrary.org/obo/UBERON_0001532 arteria carotis interna|ICA|internal carotid|cranial carotid artery UBERON:0001531 right common carotid artery plus branches biolink:AnatomicalEntity mondo The rightmost of the two common carotid arteries, originating from in the neck from the brachiocephalic trunk. http://purl.obolibrary.org/obo/UBERON_0001531 right common carotid artery|right common carotid artery|trunk of right common carotid tree UBERON:0001534 right subclavian artery biolink:AnatomicalEntity mondo The subclavian artery that supplies the right pectoral appendage http://purl.obolibrary.org/obo/UBERON_0001534 arteria subclavia dextra UBERON:0001533 subclavian artery biolink:AnatomicalEntity mondo One of two laterally paired arteries that supplies the pectoral appendages, usually branching from the dorsal aorta http://purl.obolibrary.org/obo/UBERON_0001533 pectoral artery|arterial tree of upper limb|subclavian arterial tree|arteria subclavia|PA|arteria subclavia UBERON:0001530 common carotid artery plus branches biolink:AnatomicalEntity mondo A bilaterally paired branched artery that originates from the aortic arches and divides into and includes as parts the internal and external carotid arteries[cjm]. http://purl.obolibrary.org/obo/UBERON_0001530 trunk of common carotid tree|carotid artery system|carotid artery|common carotid artery|a. carotis communis MONDO:0004900 peripheral vertigo biolink:Disease mondo SCTID:50438001|UMLS:C0155501|ICD9:386.10|ICD9:386.1|COHD:78162|ICD10:H81.399|ICD10:H81.3|DOID:9847|ICD10:H81.39|ICD9:386.19 DOID:9847|SNOMEDCT:50438001|UMLS:C0155501 http://purl.obolibrary.org/obo/MONDO_0004900 UBERON:0001518 skin of wrist biolink:AnatomicalEntity mondo A zone of skin that is part of a wrist [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001518 carpal region zone of skin|zone of skin of wrist|wrist zone of skin|zone of skin of carpal region|wrist skin HGNC:25712 PGAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25712 UBERON:0001517 skin of elbow biolink:AnatomicalEntity mondo A zone of skin that is part of a elbow [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001517 elbow skin|zone of skin of cubital region|zone of skin of elbow|cubital region zone of skin|elbow zone of skin MONDO:0004902 interstitial keratitis biolink:Disease mondo UMLS:C0155088|ICD9:370.50|COHD:439808|DOID:9857|ICD10:H16.30 DOID:9857|UMLS:C0155088 http://purl.obolibrary.org/obo/MONDO_0004902 MONDO:0004901 lingual-facial-buccal dyskinesia biolink:Disease mondo UMLS:C0152115|SCTID:49386006|ICD9:333.82|ICD10:G24.4|DOID:9854 Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. DOID:9854|UMLS:C0152115|SNOMEDCT:49386006 http://purl.obolibrary.org/obo/MONDO_0004901 oro-facial dyskinesia UBERON:0001519 skin of manus biolink:AnatomicalEntity mondo A zone of skin that is part of a manus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001519 manus skin|skin of hand|skin of fore-paw|hand skin UBERON:0001514 descending aorta biolink:AnatomicalEntity mondo The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001514 aorta descendens|pars descendens aortae|pars descendens aortae HGNC:25716 COA7 biolink:OntologyClass mondo http://identifiers.org/hgnc/25716 UBERON:0001513 skin of pes biolink:AnatomicalEntity mondo A zone of skin that is part of a pes [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001513 skin of foot|foot skin|skin of hind-paw UBERON:0001516 abdominal aorta biolink:AnatomicalEntity mondo Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001516 descending abdominal aorta|pars abdominalis aortae|aorta abdominalis|abdominal part of aorta|pars abdominalis aortae|abdominal part of aorta UBERON:0001515 thoracic aorta biolink:AnatomicalEntity mondo the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest http://purl.obolibrary.org/obo/UBERON_0001515 thoracic part of aorta|aorta thoracalis|aorta thoracica|pars thoracica aortae UBERON:0013501 cloacal sphincter biolink:AnatomicalEntity mondo A sphincter muscle that is part of a cloaca. http://purl.obolibrary.org/obo/UBERON_0013501 sphincter cloacae NCBITaxon:48796 Setaria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_48796 Setaria NCBITaxon:48791 Setariidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_48791 HGNC:13733 CDH23 biolink:OntologyClass mondo http://identifiers.org/hgnc/13733 MONDO:0004955 metabolic syndrome biolink:Disease mondo ICD10:E88.81|ICD9:277.7|EFO:0000195|NCIT:C84442 A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose. NCIT:C84442 http://purl.obolibrary.org/obo/MONDO_0004955 metabolic syndrome|metabolic syndrome X NCBITaxon:131567 cellular organisms organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_131567 biota MONDO:0004954 obsolete malt lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004954 MONDO:0004957 mucinous adenocarcinoma biolink:Disease mondo ICDO:8480/3|UMLS:C0334368|MESH:D002288|EFO:0000197|DOID:3030|NCIT:C26712|UMLS:C0007130|ONCOTREE:CEMU An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland. DOID:3030|UMLS:C0007130|NCIT:C26712|UMLS:C0334368|MESH:D002288 http://purl.obolibrary.org/obo/MONDO_0004957 mucoid adenocarcinoma|colloid carcinoma|mucin-producing adenocarcinoma (morphologic abnormality)|mucinous carcinoma|mucous adenocarcinoma|mucinuos carcinoma|mucin-producing adenocarcinoma|mucin-secreting carcinoma|mucous carcinoma|gelatinous carcinoma|gelatinous adenocarcinoma|CEMU|mucin-secreting adenocarcinoma|pseudomyxoma peritonei with unknown primary site|mucinous adenocarcinoma|adenocarcinoma, mucinous, malignant|mucoid carcinoma|colloid adenocarcinoma MONDO:0004956 metastatic prostate carcinoma biolink:Disease mondo ICD9:199.1|SCTID:314994000|EFO:0000196|NCIT:C8946 A carcinoma that arises from the prostate gland and has spread to other anatomic sites. NCIT:C8946|SNOMEDCT:314994000 http://purl.obolibrary.org/obo/MONDO_0004956 prostate cancer metastatic|prostate carcinoma metastatic|metastatic prostate carcinoma|metastatic prostate cancer MONDO:0004951 susceptibility to HIV infection biolink:Disease mondo UMLS:CN282826|OMIM:609423 The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte. UMLS:CN282826|NCIT:C14220|http://identifiers.org/omim/609423 http://purl.obolibrary.org/obo/MONDO_0004951 acquired immunodeficiency syndrome, progression to|AIDS, progression to|human immunodeficiency virus type 1, resistance to|human immunodeficiency virus type 1, susceptibility to|HIV-1, resistance to|HIV-1, susceptibility to predisposition MONDO:0004950 gastric carcinoma biolink:Disease mondo DOID:10538|ICD9:230.2|UMLS:C0153420|NCIT:C4911|EFO:0000178|UMLS:C0699791|ICD9:151.3|ICD10:C16.1|DOID:5517|SCTID:187741001 A carcinoma that arises from epithelial cells of the stomach. DOID:5517|UMLS:C0699791|UMLS:C0153420|DOID:10538|SNOMEDCT:187741001|NCIT:C4911 http://purl.obolibrary.org/obo/MONDO_0004950 stomach carcinoma|malignant tumor of fundus of stomach|gastric (stomach) cancer|cancer of the stomach|cancer of fundus of stomach|gastric fundus cancer|fundus of stomach cancer|gastric cancer|gastric cancer, NOS|gastric carcinoma|cancer of stomach|carcinoma of stomach|malignant fundus of stomach neoplasm|malignant neoplasm of fundus of stomach|Ca fundus - stomach|carcinoma of the stomach|stomach cancer MONDO:0004953 invasive ductal breast carcinoma biolink:Disease mondo ONCOTREE:IDC|EFO:0000186|NCIT:C4194|ICD9:174.8|ICDO:8500/3|SCTID:408643008|DOID:3008|ICDO:8521/3 The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both. DOID:3008|NCIT:C4194|SNOMEDCT:408643008 http://purl.obolibrary.org/obo/MONDO_0004953 invasive ductal carcinoma, NOS|infiltrating ductal carcinoma|invasive ductal carcinoma of breast|invasive ductal carcinoma of the breast|infiltrating ductal breast carcinoma|infiltrating ductal adenocarcinoma|breast invasive ductal carcinoma|ductal adenocarcinoma|infiltrating ductal carcinoma of breast|invasive ductal carcinoma|invasive ductal carcinoma, NST|invasive ductal carcinoma, not otherwise specified|invasive ductal breast carcinoma|invasive ductal adenocarcinoma|infiltrating ductal carcinoma of the breast|invasive ductal carcinoma, No specific type CHEBI:26743 sphing-4-enine biolink:ChemicalSubstance mondo A sphingenine in which the C=C double bond is located at the 4-position. http://purl.obolibrary.org/obo/CHEBI_26743 (2S,3R)-2-aminooctadec-4-ene-1,3-diol|sphing-4-enine|4-sphingenine MONDO:0004952 Hodgkins lymphoma biolink:Disease mondo ICD9:201.2|ONCOTREE:HL|ICD9:201.1|ICD9:201.90|ICDO:9650/3|ICD9:201|EFO:0000183|DOID:8567|ICD10:C81|ICD9:201.0|GARD:0002714|MESH:D006689|ICD9:201.9|Orphanet:98293|ICD10:C81.9|NCIT:C9357 Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. ORPHA:98293|NCIT:C9357|MESH:D006689|DOID:8567 http://purl.obolibrary.org/obo/MONDO_0004952 stage II subdiaphragmatic Hodgkin lymphoma|Hodgkin's lymphoma|HL|Hodgkin lymphoma|Hodgkins lymphoma|Hodgkin's sarcoma|Hodgkin disease|Hodgkin lymphoma, NOS|lymphoma, Hodgkin's|Hodgkin's disease|stage I subdiaphragmatic Hodgkin lymphoma ordo_group_of_disorders MONDO:0016937 partial duplication of chromosome 19 biolink:Disease mondo Orphanet:262687|SCTID:726358004 ORPHA:262687|SNOMEDCT:726358004 http://purl.obolibrary.org/obo/MONDO_0016937 partial trisomy of chromosome 19|partial duplication of chromosome type 19 ordo_group_of_disorders MONDO:0016938 partial trisomy of chromosome 20 biolink:Disease mondo SCTID:726360002|Orphanet:262692|UMLS:C4518509 SNOMEDCT:726360002|ORPHA:262692|UMLS:C4518509 http://purl.obolibrary.org/obo/MONDO_0016938 partial duplication of chromosome 20|partial trisomy of chromosome type 20 ordo_group_of_disorders MONDO:0016939 partial duplication of the short arm of chromosome 2 biolink:Disease mondo Orphanet:262698|MESH:C538318|GARD:0005337|UMLS:C0795803 Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. ORPHA:262698|MESH:C538318|UMLS:C0795803 http://purl.obolibrary.org/obo/MONDO_0016939 partial duplication of chromosome 2p|partial duplication of the short arm of chromosome type 2|2p duplication|trisomy 2p|partial trisomy 2p|partial trisomy of chromosome 2p|chromosome 2p duplication|2p trisomy|Duplication 2p gard_rare|ordo_group_of_disorders MONDO:0016944 partial duplication of the short arm of chromosome 7 biolink:Disease mondo Orphanet:262749|GARD:0005355|MESH:C537819|UMLS:C0795820 Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. UMLS:C0795820|MESH:C537819|ORPHA:262749 http://purl.obolibrary.org/obo/MONDO_0016944 partial trisomy 7p|chromosome 7p duplication|partial duplication of chromosome 7p|7p trisomy|Duplication 7p|partial trisomy of the short arm of chromosome 7|partial trisomy of chromosome 7p|7p duplication|partial duplication of the short arm of chromosome type 7|trisomy 7p ordo_group_of_disorders|gard_rare MONDO:0016945 partial duplication of the short arm of chromosome 8 biolink:Disease mondo Orphanet:262758|GARD:0005361 Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. ORPHA:262758 http://purl.obolibrary.org/obo/MONDO_0016945 chromosome 8p duplication|8p trisomy|Duplication 8p|partial duplication of chromosome 8p|8p duplication|trisomy 8p|partial trisomy of the short arm of chromosome 8|partial duplication of the short arm of chromosome type 8|partial trisomy 8p|partial trisomy of chromosome 8p ordo_group_of_disorders|gard_rare MONDO:0016946 partial trisomy of the short arm of chromosome 9 biolink:Disease mondo GARD:0005364|Orphanet:262767 Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. ORPHA:262767 http://purl.obolibrary.org/obo/MONDO_0016946 trisomy 9p|partial trisomy 9p|partial duplication of the short arm of chromosome 9|partial trisomy of the short arm of chromosome type 9|chromosome 9p duplication|partial duplication of chromosome 9p|9p trisomy|Duplication 9p|partial trisomy of chromosome 9p|9p duplication ordo_group_of_disorders|gard_rare UBERON:0001592 bronchial vein biolink:AnatomicalEntity mondo The bronchial veins are small vessels that return blood from the larger bronchi and structures at the roots of the lungs. The right side drains into the azygos vein, while the left side drains into the left superior intercostal vein or the accessory hemiazygos vein. The bronchial veins are counterparts to the bronchial arteries. The veins, however, do not return all of the blood supplied by the arteries; much of the blood that is carried in the bronchial arteries is returned to the heart via the pulmonary veins. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001592 bronchial venous tree UBERON:0001591 thymic vein biolink:AnatomicalEntity mondo A vein that drains blood from the thymus. http://purl.obolibrary.org/obo/UBERON_0001591 thymic tributary of brachiocephalic vein|vena thymica|venae thymicae MONDO:0016947 partial duplication of the short arm of chromosome 10 biolink:Disease mondo Orphanet:262776 ORPHA:262776 http://purl.obolibrary.org/obo/MONDO_0016947 partial trisomy of chromosome 10p|partial trisomy of the short arm of chromosome 10|partial duplication of chromosome 10p ordo_group_of_disorders MONDO:0016940 partial duplication of the short arm of chromosome 3 biolink:Disease mondo MESH:C536811|Orphanet:262707|GARD:0005343 Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person. MESH:C536811|ORPHA:262707 http://purl.obolibrary.org/obo/MONDO_0016940 partial trisomy of the short arm of chromosome 3|3p trisomy|partial duplication of the short arm of chromosome type 3|Duplication 3p|partial duplication of chromosome 3p|3p duplication|trisomy 3p|partial trisomy 3p|partial trisomy of chromosome 3p|chromosome 3p duplication gard_rare|ordo_group_of_disorders MONDO:0016941 partial duplication of the short arm of chromosome 4 biolink:Disease mondo Orphanet:262716 ORPHA:262716 http://purl.obolibrary.org/obo/MONDO_0016941 partial duplication of the short arm of chromosome type 4|partial duplication of chromosome 4p|partial trisomy of chromosome 4p|partial trisomy of the short arm of chromosome 4 ordo_group_of_disorders MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 biolink:Disease mondo Orphanet:262725 ORPHA:262725 http://purl.obolibrary.org/obo/MONDO_0016942 partial trisomy/tetrasomy of chromosome 5p|partial duplication/triplication of chromosome 5p|partial duplication/triplication of the short arm of chromosome 5|partial trisomy/tetrasomy of the short arm of chromosome type 5 ordo_group_of_disorders MONDO:0016943 partial duplication of the short arm of chromosome 6 biolink:Disease mondo Orphanet:262740|UMLS:CN036641|MESH:C537811|GARD:0005352 Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person. MESH:C537811|UMLS:CN036641|ORPHA:262740 http://purl.obolibrary.org/obo/MONDO_0016943 chromosome 6p duplication|partial trisomy of chromosome 6p|partial trisomy of the short arm of chromosome 6|6p trisomy|partial duplication of the short arm of chromosome type 6|Duplication 6p|6p duplication|trisomy 6p|partial trisomy 6p|partial duplication of chromosome 6p ordo_group_of_disorders|gard_rare MONDO:0004948 B-cell chronic lymphocytic leukemia biolink:Disease mondo ICD10:C91.10|NCIT:C3163|MedDRA:10008958|UMLS:C0855095|ICD10:C91.1|Orphanet:67038|MESH:D015451|ICD9:204.1|OMIM:151400|GARD:0006104|DOID:1040|EFO:0000095|UMLS:C0023434 B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades. MESH:D015451|MEDDRA:10008958|UMLS:C0855095|ORPHA:67038|UMLS:C0023434|http://identifiers.org/omim/151400|DOID:1040|NCIT:C3163 http://purl.obolibrary.org/obo/MONDO_0004948 B cell chronic lymphocytic leukemia|chronic lymphocytic leukemia|leukemia, chronic lymphatic|chronic B-cell lymphocytic leukemia|small lymphocytic lymphoma|chronic lymphocytic leukemia (CLL)|chronic lymphocytic leukemia, NOS|CLL|lymphoplasmacytic leukemia|B-cell chronic lymphocytic leukemia|B cell CLL|leukemia, lymphocytic, chronic|B-cell lymphocytic leukemia|CLL|chronic lymphogenous leukemia|BCLL|B-cell CLL|B-cell chronic lymphoid leukemia|B-cell chronic lymphogenous leukemia|B cell lymphocytic leukemia|leukemia, chronic LYMPHOCYTIC|chronic lymphatic leukemia|B-CLL|leukemia, chronic LYMPHOCYTIC; CLL|hematopoeitic - chronic lymphocytic leukemia (CLL) ordo_disease MONDO:0004947 B-cell acute lymphoblastic leukemia biolink:Disease mondo SCTID:277571004|NCIT:C8936|DOID:7061|EFO:0000094 A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) SNOMEDCT:277571004|NCIT:C8936|DOID:7061 http://purl.obolibrary.org/obo/MONDO_0004947 precursor B lymphoblastic leukemia/lymphoma|precursor B-lymphoblastic lymphoma/leukemia|precursor B lymphoblastic lymphoma/leukemia|B lymphoblastic leukemia/lymphoma UBERON:0001593 venous plexus biolink:AnatomicalEntity mondo A congregation of multiple veins. http://purl.obolibrary.org/obo/UBERON_0001593 rete venosum|plexus venosus|venous network HP:0008398 Hypoplastic fifth fingernail biolink:PhenotypicFeature mondo UMLS:C4024682 A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. http://purl.obolibrary.org/obo/HP_0008398 Underdeveloped fifth fingernail|Underdeveloped fingernail of pinkie finger|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinky finger MONDO:0004949 neoplasm of mature B-cells biolink:Disease mondo EFO:0000096|DOID:706|SCTID:269476000|ONCOTREE:MBN|NCIT:C27910|ICD9:202.0|UMLS:C1334633 A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). UMLS:C1334633|DOID:706|SNOMEDCT:269476000|NCIT:C27910 http://purl.obolibrary.org/obo/MONDO_0004949 mature B-cell neoplasms|mature B-cell lymphocytic neoplasm|mature B-cell neoplasm MONDO:0004966 gastritis (disease) biolink:Disease mondo UMLS:C0267112|MESH:D005756|SCTID:4556007|DOID:4029|UMLS:C2243090|ICD9:535.01|COHD:201340|ICD9:535.00|ICD9:535.4|UMLS:C0017152|NCIT:C26780|EFO:0000217|ICD10:K29.7|ICD9:535.41|ICD9:535.0|ICD9:535.40|UMLS:C2243088|HP:0005263|UMLS:C3854048 Inflammation of the stomach. DOID:4029|SNOMEDCT:4556007|UMLS:C3854048|UMLS:C0017152|MESH:D005756|NCIT:C26780|UMLS:C0267112|UMLS:C2243088|UMLS:C2243090 http://purl.obolibrary.org/obo/MONDO_0004966 acute gastric mucosal erosion|inflammation of stomach|gastritis|erosive gastropathy|erosive gastritis|stomach inflammation MONDO:0002303 central retinal vein occlusion biolink:Disease mondo ICD9:362.35|ICD10:H34.81|UMLS:C0154841|DOID:2450|SCTID:68478007|COHD:313761|NCIT:C118859 Blockage of the central retinal vein. NCIT:C118859|SNOMEDCT:68478007|DOID:2450|UMLS:C0154841 http://purl.obolibrary.org/obo/MONDO_0002303 central retinal vein retinal vein occlusion|central retinal Venous occlusion|retinal vein occlusion of central retinal vein CHEBI:75767 animal metabolite biolink:ChemicalSubstance mondo Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. http://purl.obolibrary.org/obo/CHEBI_75767 animal metabolites MONDO:0004965 acinar cell carcinoma biolink:Disease mondo UMLS:C0206685|ONCOTREE:ACCC|GARD:0008568|MESH:D018267|DOID:3025|NCIT:C3768|EFO:0000216|ICDO:8550/3 A carcinoma that arises from epithelial cells of the acinar cell DOID:3025|UMLS:C0206685|MESH:D018267|NCIT:C3768 http://purl.obolibrary.org/obo/MONDO_0004965 acinic cell carcinoma|carcinoma of acinar cell|acinic cell adenocarcinoma|acinic cell tumor|acinar cell carcinoma (morphologic abnormality)|acinar carcinoma|ACCC|carcinoma, acinar cell, malignant|acinar adenocarcinoma|acinar cell adenocarcinoma|acinar cell carcinoma MONDO:0002304 protein S deficiency biolink:Disease mondo UMLS:C0242666|GARD:0004524|MESH:D018455|HGNC:9456|ICD10:D68.59|DOID:2451|ICD9:289.81|NCIT:C99026|SCTID:1563006 Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. NCIT:C99026|DOID:2451|MESH:D018455|SNOMEDCT:1563006|UMLS:C0242666 http://purl.obolibrary.org/obo/MONDO_0002304 Protein S deficiency|Protein S deficiency disease gard_rare CHEBI:75768 mammalian metabolite biolink:ChemicalSubstance mondo Any animal metabolite produced during a metabolic reaction in mammals. http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolites MONDO:0004968 obsolete acute myelomonocytic leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004968 MONDO:0002305 thrombophilia biolink:Disease mondo MESH:D019851|COHD:4295287|NCIT:C84479|DOID:2452|OMIMPS:188050|ICD10:D68.59|ICD9:286.9|UMLS:C0398623|SCTID:234467004 A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. UMLS:C0398623|DOID:2452|MESH:D019851|SNOMEDCT:234467004|NCIT:C84479 http://purl.obolibrary.org/obo/MONDO_0002305 excessive blood clotting|hypercoagulable|hypercoagulability|hypercoagulability state MONDO:0004967 acute lymphoblastic leukemia (disease) biolink:Disease mondo COHD:134305|GARD:0000522|ICD9:204.9|ICD10:C91.0|ICD10:C91.9|DOID:9952|EFO:0000220|SCTID:91857003|ICD9:204.0|NCIT:C3167|Orphanet:513|HP:0006721|ICD10:C91.90|ICD9:204|ICD10:C91.00|ICD10:C91|ICDO:9835/3|DOID:1037|ICD9:204.00 Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia. ORPHA:513|DOID:1037|SNOMEDCT:91857003|NCIT:C3167|DOID:9952 http://purl.obolibrary.org/obo/MONDO_0004967 ALL|acute lymphocytic leukaemia|acute lymphoblastic leukemia, NOS|acute lymphocytic leukemia|leukemia, lymphoblastic, malignant|acute lymphoid leukemia|acute lymphoblastic leukemia (ALL)|acute lymphogenous leukemia|acute lymphoblastic leukemia|acute lymphoblastic leukemia/lymphoma|ALL - acute lymphocytic leukemia|precursor lymphoblastic leukemia|precursor cell lymphoblastic leukemia|precursor Lymphoblasic leukemia|lymphoblastic leukemia, acute|acute lymphocytic leukemias|lymphoblastic leukemia gard_rare|ordo_group_of_disorders MONDO:0002306 angular blepharoconjunctivitis biolink:Disease mondo ICD10:H10.52|DOID:2455|UMLS:C0155149|SCTID:69397000|ICD9:372.21|COHD:375283 A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. UMLS:C0155149|DOID:2455|SNOMEDCT:69397000 http://purl.obolibrary.org/obo/MONDO_0002306 MONDO:0004962 stage II endometrioid carcinoma biolink:Disease mondo EFO:0000206 Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus. http://purl.obolibrary.org/obo/MONDO_0004962 MONDO:0002300 dermis tumor biolink:Disease mondo UMLS:C0346041|NCIT:C4475|DOID:2438 A benign, intermediate, or malignant neoplasm that arises from the dermis. DOID:2438|UMLS:C0346041|NCIT:C4475 http://purl.obolibrary.org/obo/MONDO_0002300 dermis neoplasm|dermal tumor|neoplasm of the dermis|neoplasm of dermis|dermal neoplasm|dermis neoplasm (disease)|tumor of the dermis|dermis tumor|tumor of dermis MONDO:0004961 stage I endometrioid carcinoma biolink:Disease mondo EFO:0000205 Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix. http://purl.obolibrary.org/obo/MONDO_0004961 UBERON:0001579 olfactory nerve biolink:AnatomicalEntity mondo Nerve that carries information from the olfactory epithelium to the olfactory bulb[Butler and Hodos]. http://purl.obolibrary.org/obo/UBERON_0001579 first cranial nerve|1n|olfactoria fila|nervus olfactorius|olfactory i nerve|nerve I|fila olfactoria|cranial nerve I|olfactory fila|olfactory I|olfactory nerve [I]|nerve of smell|CN-I|nervus olfactorius [i] CHEBI:75769 B vitamin biolink:ChemicalSubstance mondo A role played by any of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B). The group comprises of vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such). B vitamins play important roles in cell metabolism. http://purl.obolibrary.org/obo/CHEBI_75769 B vitamins|B-group vitamins|B-group vitamin|vitamin B MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified biolink:Disease mondo EFO:0000211|ONCOTREE:PTCL|NCIT:C4340 Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant. NCIT:C4340 http://purl.obolibrary.org/obo/MONDO_0004964 peripheral T-cell lymphoma, NOS|PTCL|peripheral T-cell lymphoma, not otherwise specified MONDO:0002301 frontal sinus squamous cell carcinoma biolink:Disease mondo NCIT:C6067|DOID:2441|SCTID:707356001|UMLS:C1333646 A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. NCIT:C6067|SNOMEDCT:707356001|DOID:2441|UMLS:C1333646 http://purl.obolibrary.org/obo/MONDO_0002301 epidermoid carcinoma of frontal sinus|epidermoid carcinoma of the frontal sinus|squamous cell carcinoma of the frontal sinus|squamous cell carcinoma of frontal sinus|frontal sinus squamous cell carcinoma|frontal sinus epidermoid carcinoma MONDO:0004963 T-cell acute lymphoblastic leukemia biolink:Disease mondo ICDO:9837/3|NCIT:C3183|EFO:0000209|HGNC:5056 Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) NCIT:C3183 http://purl.obolibrary.org/obo/MONDO_0004963 T-cell acute lymphocytic leukemia|acute T-cell lymphoblastic leukemia|T-cell ALL|T acute lymphoblastic leukemia|T-cell type acute leukemia|acute T cell lymphoblastic leukemia|T-ALL|acute T-cell leukemia|acute T-cell lymphocytic leukemia|T-cell acute lymphoblastic leukemia|acute T cell leukemia|precursor T-lymphoblastic leukemia|acute T cell lymphocytic leukemia|precursor T-lymphoblastic leukemia (T-cell ALL) MONDO:0002302 obsolete acromegaly biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002302 MONDO:0004960 monoclonal gammopathy biolink:Disease mondo NCIT:C35548|SCTID:109983007|ICD10:D47.2|MESH:D010265|EFO:0000203|COHD:4002359 A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine. MESH:D010265|SNOMEDCT:109983007|NCIT:C35548 http://purl.obolibrary.org/obo/MONDO_0004960 HP:0200067 Recurrent spontaneous abortion biolink:PhenotypicFeature mondo UMLS:C3279439 Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. http://purl.obolibrary.org/obo/HP_0200067 Spontaneous abortion, recurrent MONDO:0016926 obsolete Geleophysic dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016926 MONDO:0016927 partial duplication of chromosome 6 biolink:Disease mondo SCTID:726345000|Orphanet:262628 ORPHA:262628|SNOMEDCT:726345000 http://purl.obolibrary.org/obo/MONDO_0016927 partial duplication of chromosome type 6|partial trisomy of chromosome 6 ordo_group_of_disorders MONDO:0016928 partial duplication of chromosome 7 biolink:Disease mondo Orphanet:262633|SCTID:726346004 ORPHA:262633|SNOMEDCT:726346004 http://purl.obolibrary.org/obo/MONDO_0016928 partial trisomy of chromosome 7|partial duplication of chromosome type 7 ordo_group_of_disorders MONDO:0016929 partial duplication of chromosome 8 biolink:Disease mondo MESH:C537941|SCTID:726347008|Orphanet:262638 ORPHA:262638|MESH:C537941|SNOMEDCT:726347008 http://purl.obolibrary.org/obo/MONDO_0016929 partial duplication of chromosome type 8|partial trisomy of chromosome 8 ordo_group_of_disorders MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 biolink:Disease mondo Orphanet:262658 ORPHA:262658 http://purl.obolibrary.org/obo/MONDO_0016933 partial trisomy/tetrasomy of chromosome 12p|partial trisomy/tetrasomy of the short arm of chromosome type 12|partial duplication/triplication of the short arm of chromosome 12|partial duplication/triplication of chromosome 12p ordo_group_of_disorders MONDO:0016934 partial duplication of chromosome 16 biolink:Disease mondo Orphanet:262672|SCTID:726355001 SNOMEDCT:726355001|ORPHA:262672 http://purl.obolibrary.org/obo/MONDO_0016934 partial trisomy of chromosome 16|partial duplication of chromosome type 16 ordo_group_of_disorders MONDO:0016935 partial duplication of chromosome 17 biolink:Disease mondo UMLS:C4518505|SCTID:726356000|Orphanet:262677 SNOMEDCT:726356000|UMLS:C4518505|ORPHA:262677 http://purl.obolibrary.org/obo/MONDO_0016935 partial trisomy of chromosome 17|partial duplication of chromosome type 17 ordo_group_of_disorders MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 biolink:Disease mondo Orphanet:262682 ORPHA:262682 http://purl.obolibrary.org/obo/MONDO_0016936 partial duplication/triplication of chromosome 18|partial trisomy/tetrasomy of chromosome type 18 ordo_group_of_disorders MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 biolink:Disease mondo Orphanet:262643 ORPHA:262643 http://purl.obolibrary.org/obo/MONDO_0016930 partial trisomy/tetrasomy of chromosome type 9|partial duplication/triplication of chromosome 9 ordo_group_of_disorders MONDO:0016931 partial duplication of chromosome 10 biolink:Disease mondo Orphanet:262648|SCTID:726349006 SNOMEDCT:726349006|ORPHA:262648 http://purl.obolibrary.org/obo/MONDO_0016931 partial trisomy of chromosome 10 ordo_group_of_disorders MONDO:0016932 partial duplication of chromosome 11 biolink:Disease mondo Orphanet:262653|SCTID:726350006 SNOMEDCT:726350006|ORPHA:262653 http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome type 11|partial trisomy of chromosome 11 ordo_group_of_disorders HGNC:13711 POF1B biolink:OntologyClass mondo http://identifiers.org/hgnc/13711 UBERON:0001586 internal jugular vein biolink:AnatomicalEntity mondo One of two jugular veins that collect the blood from the brain, the superficial parts of the face, and the neck. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001586 vena jugularis interna|internal jugular|internal jugular venous tree MONDO:0004959 plasma cell neoplasm biolink:Disease mondo Orphanet:98282|UMLS:C1959632|SCTID:415111003|ICD9:238.6|COHD:443743|MESH:D054219|NCIT:C4665|DOID:6536|EFO:0000200 A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. DOID:6536|ORPHA:98282|MESH:D054219|UMLS:C1959632|SNOMEDCT:415111003|NCIT:C4665 http://purl.obolibrary.org/obo/MONDO_0004959 plasma cell tumor, malignant|plasmacytic tumour|plasma cell tumor|plasma cell neoplasm|plasma cell dyscrasia|plasma cell tumour|plasmacytic tumor|plasma cell disorder|plasmacytic neoplasm ordo_group_of_disorders CHEBI:75763 eukaryotic metabolite biolink:ChemicalSubstance mondo Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolites MONDO:0004958 oral cavity squamous cell carcinoma biolink:Disease mondo GARD:0007263|UMLS:C0585362|ONCOTREE:OCSC|EFO:0000199|NCIT:C4833|DOID:0050866|Orphanet:502363|SCTID:307502000 A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status. UMLS:C0585362|ORPHA:502363|DOID:0050866|SNOMEDCT:307502000|NCIT:C4833 http://purl.obolibrary.org/obo/MONDO_0004958 oral cavity squamous cell carcinoma|scc of the oral cavity|scc of the mouth|scc of oral cavity|oral cavity scc|scc of mouth|mouth scc|squamous cell carcinoma of the oral cavity|mouth squamous cell carcinoma|OCSC|squamous cell carcinoma of oral cavity|squamous cell carcinoma of the mouth|squamous cell carcinoma of mouth|oral squamous cell carcinoma|oral cavity squamous cell cancer gard_rare|ordo_disease UBERON:0001585 anterior vena cava biolink:AnatomicalEntity mondo A vein that carries deoxygenated blood from the upper half of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/UBERON_0001585 cranial vena cava|superior vena cava|precava|vena cava superior|vena maxima|superior caval vein UBERON:0001584 left subclavian artery biolink:AnatomicalEntity mondo The subclavian artery that supplies the left pectoral appendage http://purl.obolibrary.org/obo/UBERON_0001584 arteria subclavia (sinistra) MONDO:0004933 hypoplastic left heart syndrome biolink:Disease mondo COHD:440207|OMIMPS:241550|UMLS:C0152101|MESH:D018636|DOID:9955|MedDRA:10021076|ICD10:Q23.4|NCIT:C98894|ICD9:746.7|GARD:0006739|Orphanet:2248|SCTID:62067003 Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. SNOMEDCT:62067003|ORPHA:2248|MEDDRA:10021076|MESH:D018636|NCIT:C98894|DOID:9955|UMLS:C0152101 http://purl.obolibrary.org/obo/MONDO_0004933 HLHS ordo_morphological_anomaly MONDO:0004932 null-cell leukemia biolink:Disease mondo UMLS:C0023483|DOID:9954|SCTID:277574007 SNOMEDCT:277574007|UMLS:C0023483|DOID:9954 http://purl.obolibrary.org/obo/MONDO_0004932 null cell acute lymphoblastic leukemia MONDO:0004935 acquired carotenemia biolink:Disease mondo DOID:9969|COHD:433985|SCTID:35487009|ICD9:278.3 DOID:9969|SNOMEDCT:35487009 http://purl.obolibrary.org/obo/MONDO_0004935 hypercarotinemia|carotenemia MONDO:0004934 periostitis (disease) biolink:Disease mondo SCTID:41910004|DOID:9957|HP:0040165|MESH:D010522|NCIT:C13184|UMLS:C0031111 Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed) DOID:9957|UMLS:C0031111|SNOMEDCT:41910004|MESH:D010522|NCIT:C13184 http://purl.obolibrary.org/obo/MONDO_0004934 periosteum inflammation|periostitis|inflammation of periosteum|periosteum UBERON:0001568 muscle of larynx biolink:AnatomicalEntity mondo The muscles associated with the larynx. http://purl.obolibrary.org/obo/UBERON_0001568 musculi laryngeales|muscle organ of larynx|larynx muscle organ|larynx muscle|laryngeal muscle MONDO:0004931 residual stage corticosteroid-induced glaucoma biolink:Disease mondo ICD9:365.32|DOID:9948|UMLS:C0339580|SCTID:193549003 SNOMEDCT:193549003|UMLS:C0339580|DOID:9948 http://purl.obolibrary.org/obo/MONDO_0004931 MONDO:0004930 steroid-induced glaucoma biolink:Disease mondo UMLS:C0339578|ICD9:365.89|SCTID:1654001|DOID:9946|ICD9:365.3 UMLS:C0339578|SNOMEDCT:1654001|DOID:9946 http://purl.obolibrary.org/obo/MONDO_0004930 corticosteroid-induced glaucoma MONDO:0016919 partial deletion of the long arm of chromosome 21 biolink:Disease mondo ICD10:Q93.5|Orphanet:262173 ORPHA:262173 http://purl.obolibrary.org/obo/MONDO_0016919 partial deletion of the long arm of chromosome type 21|partial monosomy of the long arm of chromosome 21|partial deletion of chromosome 21q|partial monosomy of chromosome 21q ordo_group_of_disorders HP:0200036 Skin nodule biolink:PhenotypicFeature mondo SNOMEDCT_US:95319004|UMLS:C0037287 Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. http://purl.obolibrary.org/obo/HP_0200036 Growth of abnormal tissue on or under the skin MONDO:0016915 partial deletion of the long arm of chromosome 17 biolink:Disease mondo Orphanet:262137|ICD10:Q93.5 ORPHA:262137 http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome type 17|partial monosomy of the long arm of chromosome 17|partial deletion of chromosome 17q|partial monosomy of chromosome 17q ordo_group_of_disorders MONDO:0016916 partial deletion of the long arm of chromosome 18 biolink:Disease mondo Orphanet:262146|ICD10:Q93.5|GARD:0013000 ORPHA:262146 http://purl.obolibrary.org/obo/MONDO_0016916 partial deletion of the long arm of chromosome type 18|chromosome 18q deletion|partial monosomy of the long arm of chromosome 18|partial deletion of chromosome 18q|partial monosomy of chromosome 18q gard_rare|ordo_group_of_disorders MONDO:0016917 partial deletion of the long arm of chromosome 19 biolink:Disease mondo ICD10:Q93.5|Orphanet:262155 ORPHA:262155 http://purl.obolibrary.org/obo/MONDO_0016917 partial monosomy of the long arm of chromosome 19|partial deletion of chromosome 19q|partial monosomy of chromosome 19q|partial deletion of the long arm of chromosome type 19 ordo_group_of_disorders MONDO:0016918 partial deletion of the long arm of chromosome 20 biolink:Disease mondo ICD10:Q93.5|Orphanet:262164 ORPHA:262164 http://purl.obolibrary.org/obo/MONDO_0016918 partial deletion of the long arm of chromosome type 20|partial monosomy of the long arm of chromosome 20|partial deletion of chromosome 20q|partial monosomy of chromosome 20q ordo_group_of_disorders MONDO:0016922 partial duplication of chromosome 2 biolink:Disease mondo SCTID:726340005|Orphanet:262196 SNOMEDCT:726340005|ORPHA:262196 http://purl.obolibrary.org/obo/MONDO_0016922 partial duplication of chromosome type 2|partial trisomy of chromosome 2 ordo_group_of_disorders MONDO:0016923 partial duplication of chromosome 3 biolink:Disease mondo SCTID:726341009|Orphanet:262201 SNOMEDCT:726341009|ORPHA:262201 http://purl.obolibrary.org/obo/MONDO_0016923 partial trisomy of chromosome 3|partial duplication of chromosome type 3 ordo_group_of_disorders MONDO:0016924 partial duplication of chromosome 4 biolink:Disease mondo SCTID:726342002|Orphanet:262206 SNOMEDCT:726342002|ORPHA:262206 http://purl.obolibrary.org/obo/MONDO_0016924 partial duplication of chromosome type 4|partial trisomy of chromosome 4 ordo_group_of_disorders MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 biolink:Disease mondo Orphanet:262211 ORPHA:262211 http://purl.obolibrary.org/obo/MONDO_0016925 partial duplication/triplication of chromosome 5|partial trisomy/tetrasomy of chromosome type 5 ordo_group_of_disorders GO:0048609 multicellular organismal reproductive process biolink:OntologyClass mondo The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. http://purl.obolibrary.org/obo/GO_0048609 reproductive process in a multicellular organism|organismal reproductive process MONDO:0016920 partial deletion of the long arm of chromosome 22 biolink:Disease mondo Orphanet:262182|ICD10:Q93.5 ORPHA:262182 http://purl.obolibrary.org/obo/MONDO_0016920 partial deletion of chromosome 22q|partial monosomy of chromosome 22q|partial deletion of the long arm of chromosome type 22|partial monosomy of the long arm of chromosome 22 ordo_group_of_disorders CHEBI:38702 inorganic sodium salt biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38702 inorganic sodium salts MONDO:0016921 partial duplication of chromosome 1 biolink:Disease mondo SCTID:726338000|Orphanet:262191 SNOMEDCT:726338000|ORPHA:262191 http://purl.obolibrary.org/obo/MONDO_0016921 partial duplication of chromosome type 1|partial trisomy of chromosome 1 ordo_group_of_disorders UBERON:0001576 intrinsic muscle of tongue biolink:AnatomicalEntity mondo The intrinsic tongue muscles are an integral part of the tongue and completely contained within the tongue that are innervated by Cranial Nerve XII. http://purl.obolibrary.org/obo/UBERON_0001576 intrinsic tongue muscle|intrinsic lingual muscle UBERON:0001575 extrinsic muscle of tongue biolink:AnatomicalEntity mondo A muscle organ that attaches the tongue to some other structure. http://purl.obolibrary.org/obo/UBERON_0001575 extrinsic lingual muscle|extrinsic tongue muscle CHEBI:75771 mouse metabolite biolink:ChemicalSubstance mondo Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). http://purl.obolibrary.org/obo/CHEBI_75771 mouse metabolites|Mus musculus metabolites|Mus musculus metabolite MONDO:0004929 constant exophthalmos biolink:Disease mondo UMLS:C0155267|ICD9:376.31|SCTID:89907009|ICD10:H05.24|COHD:434943|DOID:9945 SNOMEDCT:89907009|DOID:9945|UMLS:C0155267 http://purl.obolibrary.org/obo/MONDO_0004929 UBERON:0001577 facial muscle biolink:AnatomicalEntity mondo A muscle innervated by a facial nerve. http://purl.obolibrary.org/obo/UBERON_0001577 craniofacial muscle|muscles of facial expression|facial muscle proper|cranial-facial muscle|facial nerve muscle|muscle organ of face|muscle of face|mimetic muscles|musculi faciei|facial nerve innervated muscle|cranio-facial muscle|face muscle organ|facial muscle|face muscle|muscle of facil expression MONDO:0004926 dacryocystitis biolink:Disease mondo SCTID:85777005|ICD10:H04.30|COHD:439025|MESH:D003607|DOID:9938|ICD9:375.30|NCIT:C34521|UMLS:C0010930 Inflammation of the lacrimal sac. UMLS:C0010930|SNOMEDCT:85777005|DOID:9938|MESH:D003607|NCIT:C34521 http://purl.obolibrary.org/obo/MONDO_0004926 lacrimal sac inflammation|dacryoadenitis|Dacryoadenitides|inflammation of lacrimal sac|Dacryocystitides UBERON:0001572 hyoglossus muscle biolink:AnatomicalEntity mondo A muscle that attaches to the hyopid bone and to the tongue and is innervated by cranial nerve XII http://purl.obolibrary.org/obo/UBERON_0001572 hyoglossus|m. hyoglossus HP:0008373 Puberty and gonadal disorders biolink:PhenotypicFeature mondo UMLS:C4024685 http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders MONDO:0004925 chronic dacryocystitis biolink:Disease mondo ICD9:375.42|COHD:438760|SCTID:84627005|DOID:9937|UMLS:C0149506|ICD10:H04.41 Chronic form of dacryocystitis. UMLS:C0149506|SNOMEDCT:84627005|DOID:9937 http://purl.obolibrary.org/obo/MONDO_0004925 dacryocystitis, chronic UBERON:0001571 genioglossus muscle biolink:AnatomicalEntity mondo Either of a pair of lingual muscles with origin in the mandible, with insertion to the lingual fascia below the mucous membrane and epiglottis, with nerve supply from the hypoglossal nerve, and whose action depresses and protrudes the tongue. http://purl.obolibrary.org/obo/UBERON_0001571 musculus genioglossus|genioglossus|m. genioglossus MONDO:0004928 lymph node disease biolink:Disease mondo NCIT:C35346|SCTID:76616003|UMLS:C0272394|DOID:9942 Any disorder of the lymph nodes. DOID:9942|UMLS:C0272394|NCIT:C35346|SNOMEDCT:76616003 http://purl.obolibrary.org/obo/MONDO_0004928 lymph node disease|lymph node disease or disorder|disorder of lymph node|lymph node disorder|disease of lymph node|disorder of lymph node|disease or disorder of lymph node CHEBI:75772 Saccharomyces cerevisiae metabolite biolink:ChemicalSubstance mondo Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). http://purl.obolibrary.org/obo/CHEBI_75772 S. cerevisiae metabolites|S. cerevisiae metabolite|Saccharomyces cerevisiae secondary metabolites|baker's yeast metabolite|S. cerevisiae secondary metabolite|Saccharomyces cerevisiae metabolites|baker's yeast secondary metabolites|baker's yeast secondary metabolite|S. cerevisiae secondary metabolites|baker's yeast metabolites MONDO:0004927 dacryocystocele biolink:Disease mondo DOID:9939|ICD9:375.43|COHD:434951 A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction. NCIT:C98968|DOID:9939 http://purl.obolibrary.org/obo/MONDO_0004927 lacrimal mucocele MONDO:0004944 neurosyphilis biolink:Disease mondo UMLS:C0027927|NCIT:C84935|GARD:0008729|ICD9:094.89|ICD9:094.9|ICD10:A52.3|SCTID:26039008|ICD9:094|DOID:9988 Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia. SNOMEDCT:26039008|UMLS:C0027927|DOID:9988|NCIT:C84935 http://purl.obolibrary.org/obo/MONDO_0004944 neurosyphilis|late neurosyphilis|tertiary neurosyphilis gard_rare MONDO:0004943 orbit sarcoma biolink:Disease mondo UMLS:C1335131|DOID:9987|NCIT:C6095|SCTID:699354006 A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas. NCIT:C6095|SNOMEDCT:699354006|UMLS:C1335131|DOID:9987 http://purl.obolibrary.org/obo/MONDO_0004943 orbit of skull sarcoma|sarcoma of the orbit|sarcoma of orbit|sarcoma of orbit of skull|orbital sarcoma MONDO:0004946 hypoglycemia biolink:Disease mondo COHD:24609|NCIT:C3126|ICD10:E16.2|ICD9:251.1|ICD9:251.2|SCTID:302866003|UMLS:C0020615|MESH:D007003|DOID:9993 Abnormally low level of glucose in the blood. UMLS:C0020615|SNOMEDCT:302866003|MESH:D007003|NCIT:C3126|DOID:9993 http://purl.obolibrary.org/obo/MONDO_0004946 glucose, Low blood|low blood glucose|blood glucose, Low|hypoglycaemia CHEBI:75787 prokaryotic metabolite biolink:ChemicalSubstance mondo Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolites MONDO:0004945 obsolete hypereosinophilic syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004945 MONDO:0004940 acute female pelvic peritonitis biolink:Disease mondo SCTID:85051008|UMLS:C0269032|COHD:199885|DOID:9978|ICD10:N73.3|ICD9:614.5 SNOMEDCT:85051008|UMLS:C0269032|DOID:9978 http://purl.obolibrary.org/obo/MONDO_0004940 UBERON:0001558 lower respiratory tract biolink:AnatomicalEntity mondo The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified] http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory system UBERON:0001557 upper respiratory tract biolink:AnatomicalEntity mondo The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. http://purl.obolibrary.org/obo/UBERON_0001557 MONDO:0004942 orbit lymphoma biolink:Disease mondo NCIT:C6244|GARD:0009719|DOID:9986|SCTID:13048006|UMLS:C0271333|MESH:C537131 A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma. MESH:C537131|NCIT:C6244|DOID:9986|UMLS:C0271333|SNOMEDCT:13048006 http://purl.obolibrary.org/obo/MONDO_0004942 lymphoma of orbit|lymphoma of the orbit|orbital lymphoma|primary orbit lymphoma|primary orbital lymphoma HP:0200042 Skin ulcer biolink:PhenotypicFeature mondo SNOMEDCT_US:46742003|UMLS:C0037299|MEDDRA:10040943|MSH:D012883 A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. http://purl.obolibrary.org/obo/HP_0200042 Open skin sore hposlim_core MONDO:0004941 eosinophilia-myalgia syndrome biolink:Disease mondo SCTID:95416007|DOID:998|GARD:0006345|MESH:D016603|EFO:1001316|COHD:258828|ICD9:710.5 A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93) SNOMEDCT:95416007|DOID:998|MESH:D016603 http://purl.obolibrary.org/obo/MONDO_0004941 severe muscle pain and abnormally high eosinophils|EMS|syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart|L-tryptophan induced EMS|eosinophilia myalgia syndrome gard_rare MONDO:0016908 partial monosomy of the long arm of chromosome 9 biolink:Disease mondo ICD10:Q93.5|Orphanet:262074 ORPHA:262074 http://purl.obolibrary.org/obo/MONDO_0016908 partial monosomy of the long arm of chromosome type 9|partial deletion of chromosome 9q|partial deletion of the long arm of chromosome 9|partial monosomy of chromosome 9q ordo_group_of_disorders MONDO:0016909 partial monosomy of the long arm of chromosome 10 biolink:Disease mondo Orphanet:262083|ICD10:Q93.5|UMLS:C0795839 ORPHA:262083|UMLS:C0795839 http://purl.obolibrary.org/obo/MONDO_0016909 partial monosomy of the long arm of chromosome type 10|partial deletion of the long arm of chromosome 10|partial deletion of chromosome 10q|partial monosomy of chromosome 10q ordo_group_of_disorders MONDO:0016904 partial deletion of the long arm of chromosome 5 biolink:Disease mondo Orphanet:262038|ICD10:Q93.5 ORPHA:262038 http://purl.obolibrary.org/obo/MONDO_0016904 partial monosomy of chromosome 5q|partial monosomy of the long arm of chromosome 5|partial deletion of chromosome 5q|partial deletion of the long arm of chromosome type 5 ordo_group_of_disorders MONDO:0016905 partial deletion of the long arm of chromosome 6 biolink:Disease mondo UMLS:C0795816|GARD:0003760|MESH:C537807|Orphanet:262047|ICD10:Q93.5 Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. ORPHA:262047|UMLS:C0795816|MESH:C537807 http://purl.obolibrary.org/obo/MONDO_0016905 deletion 6q|partial monosomy of chromosome 6q|chromosome 6q deletion|partial deletion of chromosome 6q|6q deletion|partial deletion of the long arm of chromosome type 6|partial monosomy 6q|monosomy 6q|6q monosomy|partial monosomy of the long arm of chromosome 6 gard_rare|ordo_group_of_disorders MONDO:0016906 partial deletion of the long arm of chromosome 7 biolink:Disease mondo NCIT:C36408|ICD10:Q93.5|Orphanet:262056|GARD:0003765 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. ORPHA:262056|NCIT:C36408 http://purl.obolibrary.org/obo/MONDO_0016906 partial monosomy of chromosome 7q|7q monosomy|partial monosomy 7q|loss of chromosome 7q|partial deletion of chromosome 7q|monosomy 7q|deletion 7q|del(7q)|partial deletion of the long arm of chromosome type 7|partial monosomy of the long arm of chromosome 7|7q deletion gard_rare|ordo_group_of_disorders MONDO:0016907 partial deletion of the long arm of chromosome 8 biolink:Disease mondo GARD:0003770|MESH:C537828|ICD10:Q93.5|UMLS:C0795828|Orphanet:262065 Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. ORPHA:262065|UMLS:C0795828|MESH:C537828 http://purl.obolibrary.org/obo/MONDO_0016907 chromosome 8q deletion|deletion 8q|partial deletion of chromosome 8q|partial deletion of the long arm of chromosome type 8|8q deletion|partial monosomy of the long arm of chromosome 8|8q monosomy|partial monosomy 8q|monosomy 8q|partial monosomy of chromosome 8q gard_rare|ordo_group_of_disorders MONDO:0016911 partial deletion of the long arm of chromosome 13 biolink:Disease mondo MESH:C535449|ICD10:Q93.5|Orphanet:262101|NCIT:C36497|GARD:0001738 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13. NCIT:C36497|MESH:C535449|ORPHA:262101 http://purl.obolibrary.org/obo/MONDO_0016911 partial monosomy of chromosome 13q|partial deletion of the long arm of chromosome type 13|del(13q)|partial monosomy of the long arm of chromosome 13|loss of chromosome 13q|13q deletion|deletion 13q|13q monosomy|monosomy 13q|partial deletion of chromosome 13q|chromosome 13q deletion gard_rare|ordo_group_of_disorders MONDO:0016912 partial deletion of the long arm of chromosome 14 biolink:Disease mondo ICD10:Q93.5|GARD:0003722|Orphanet:262110 Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. ORPHA:262110 http://purl.obolibrary.org/obo/MONDO_0016912 14q deletion|partial monosomy of chromosome 14q|partial monosomy of the long arm of chromosome 14|14q monosomy|deletion 14q|monosomy 14q|chromosome 14q deletion|partial monosomy 14q|partial deletion of chromosome 14q|partial deletion of the long arm of chromosome type 14 gard_rare|ordo_group_of_disorders MONDO:0016913 partial deletion of the long arm of chromosome 15 biolink:Disease mondo GARD:0001746|ICD10:Q93.5|MESH:C538038|Orphanet:262119 MESH:C538038|ORPHA:262119 http://purl.obolibrary.org/obo/MONDO_0016913 15q deletion|15q monosomy|partial deletion of the long arm of chromosome type 15|partial deletion of chromosome 15q|deletion 15q|partial monosomy of the long arm of chromosome 15|chromosome 15q deletion|partial monosomy of chromosome 15q|monosomy 15q|partial monosomy 15q ordo_group_of_disorders MONDO:0016914 partial deletion of the long arm of chromosome 16 biolink:Disease mondo Orphanet:262128|ICD10:Q93.5 ORPHA:262128 http://purl.obolibrary.org/obo/MONDO_0016914 partial deletion of the long arm of chromosome type 16|partial deletion of chromosome 16q|partial monosomy of the long arm of chromosome 16|partial monosomy of chromosome 16q ordo_group_of_disorders CHEBI:38716 carboxylic acid dianion biolink:ChemicalSubstance mondo Any dianion containing at least one carboxy group. http://purl.obolibrary.org/obo/CHEBI_38716 carboxylic acid dianions|carboxylic acid dianion MONDO:0016910 partial deletion of the long arm of chromosome 11 biolink:Disease mondo UMLS:CN035778|MESH:C538296|GARD:0001735|NCIT:C37312|GTR:AN0100480|ICD10:Q93.5|GTR:AN0100479|GTR:AN0100478|Orphanet:262092 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11. MESH:C538296|ORPHA:262092|NCIT:C37312|UMLS:CN035778 http://purl.obolibrary.org/obo/MONDO_0016910 partial deletion of chromosome 11q|deletion 11q|monosomy 11q partial|11q deletion|loss of chromosome 11q|del(11q)|partial monosomy of chromosome 11q|monosomy 11q|chromosome 11q partial deletion|partial monosomy 11q|11q monosomy|partial deletion of the long arm of chromosome type 11|Deletion 11q partial|partial monosomy of the long arm of chromosome 11|chromosome 11q deletion gard_rare|ordo_group_of_disorders UBERON:0001567 cheek biolink:AnatomicalEntity mondo A fleshy subdivision of one side of the face bounded by an eye, ear and the nose. http://purl.obolibrary.org/obo/UBERON_0001567 buccae|jowl MONDO:0004937 hypervitaminosis D biolink:Disease mondo DOID:9971|ICD9:278.4|ICD10:E67.3|SCTID:27712000|UMLS:C1442839|COHD:435522 DOID:9971|UMLS:C1442839|SNOMEDCT:27712000 http://purl.obolibrary.org/obo/MONDO_0004937 hypervitaminosis type D CHEBI:26738 sphingenine biolink:ChemicalSubstance mondo A 2-aminooctadecene-1,3-diol having (2S,3R)-configuration. http://purl.obolibrary.org/obo/CHEBI_26738 sphingenines HGNC:8487 ORC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8487 MONDO:0004936 uterine inversion biolink:Disease mondo EFO:1001446|ICD10:N85.5|MESH:D019687|ICD9:665.2|DOID:997|SCTID:27215002 A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage. SNOMEDCT:27215002|DOID:997|MESH:D019687 http://purl.obolibrary.org/obo/MONDO_0004936 UBERON:0001560 neck of organ biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0001560 organ neck CHEBI:26739 sphingolipid biolink:ChemicalSubstance mondo Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone. http://purl.obolibrary.org/obo/CHEBI_26739 sphingolipids MONDO:0004939 hallucinogen dependence biolink:Disease mondo ICD9:304.5|ICD9:304.50|DOID:9977|ICD10:F16.2|NCIT:C34657|SCTID:38247002 A drug dependence for a hallucinogenic substance. SNOMEDCT:38247002|DOID:9977|NCIT:C34657 http://purl.obolibrary.org/obo/MONDO_0004939 HP:0008386 Aplasia/Hypoplasia of the nails biolink:PhenotypicFeature mondo UMLS:C1859077 Aplasia or developmental hypoplasia of the nail. http://purl.obolibrary.org/obo/HP_0008386 Nail aplasia/hypoplasia|Absent/hypoplastic nails|Absent/small nails|Absent/underdeveloped nails MONDO:0004938 substance dependence biolink:Disease mondo ICD9:304.60|NCIT:C35458|SCTID:2403008|DOID:9973 The psychological or physiological need to take a substance in oder to experience its effects or to avoid the effects of its absence. DOID:9973|NCIT:C35458|SNOMEDCT:2403008 http://purl.obolibrary.org/obo/MONDO_0004938 dependence HP:0011927 Short digit biolink:PhenotypicFeature mondo UMLS:C1860176|UMLS:C4023124 One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. http://purl.obolibrary.org/obo/HP_0011927 Very short digits|Short digit CHEBI:48154 sulfur oxide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_48154 Schwefeloxide|sulfur oxides|oxides of sulfur NCBITaxon:1457286 Dorylaimia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1457286 UBERON:0001507 biceps brachii biolink:AnatomicalEntity mondo A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001507 biceps cubiti|biceps brachii muscle|biceps brachii %26 brachialis muscles|biceps|musculus biceps brachii|biceps muscle UBERON:0001509 triceps brachii biolink:AnatomicalEntity mondo The triceps brachii muscle (Latin for 'three-headed' muscle of the arm, it is called a three headed muscle because there are three bundles of muscle, each of different origin, joining together at the elbow) is the large muscle on the back of the human upper limb. It is the muscle principally responsible for extension of the elbow joint (i.e. straightening of the arm). Though a similarly-named muscle, the triceps surae, is found on the lower leg, the triceps brachii is commonly called simply the 'triceps'. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001509 musculus triceps brachii|triceps muscle|triceps brachii muscle|triceps UBERON:0001508 arch of aorta biolink:AnatomicalEntity mondo the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery http://purl.obolibrary.org/obo/UBERON_0001508 aortic arch|arcus aortae|thoracic aorta HP:0011974 Myelofibrosis biolink:PhenotypicFeature mondo UMLS:C0026987|SNOMEDCT_US:52967002 Replacement of bone marrow by fibrous tissue. http://purl.obolibrary.org/obo/HP_0011974 NCBITaxon:83158 Sarcoptoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_83158 Psoroptoidea|Listrophoroidea UBERON:0001510 skin of knee biolink:AnatomicalEntity mondo A zone of skin that is part of a knee [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001510 knee zone of skin|zone of skin of knee|knee skin UBERON:0001512 skin of ankle biolink:AnatomicalEntity mondo A zone of skin that is part of an ankle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001512 ankle skin|tarsal region skin|zone of skin of ankle|ankle zone of skin UBERON:0001511 skin of leg biolink:AnatomicalEntity mondo A zone of skin that is part of a leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001511 leg zone of skin|zone of skin of leg|leg skin NCBITaxon:83145 Eleutherengona organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_83145 Eleutherengonides HP:0011962 Obstructive azoospermia biolink:PhenotypicFeature mondo UMLS:C4023106 Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. http://purl.obolibrary.org/obo/HP_0011962 NCBITaxon:83141 Parasitengona organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_83141 velvet mites|Parasitengonae UBERON:0001500 muscle of manus biolink:AnatomicalEntity mondo Any muscle organ that is part of a manus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001500 manus muscle organ|manus muscle|muscle of hand|hand muscle|muscle organ of manus HP:0008321 Reduced factor X activity biolink:PhenotypicFeature mondo SNOMEDCT_US:76642003|UMLS:C4024702|MSH:D005171|UMLS:C0015519 Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). http://purl.obolibrary.org/obo/HP_0008321 Decreased factor x activity|Factor X deficiency HP:0011947 Respiratory tract infection biolink:PhenotypicFeature mondo UMLS:C0035243|MSH:D012141|SNOMEDCT_US:275498002 An infection of the upper or lower respiratory tract. http://purl.obolibrary.org/obo/HP_0011947 Respiratory tract infection|Respiratory infections|Respiratory infection CHEBI:36132 alicyclic ketone biolink:ChemicalSubstance mondo A cyclic ketone in which the carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system. http://purl.obolibrary.org/obo/CHEBI_36132 alicyclic ketones|alicyclic ketone GO:0048585 negative regulation of response to stimulus biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/GO_0048585 downregulation of response to stimulus|down regulation of response to stimulus|inhibition of response to stimulus|down-regulation of response to stimulus GO:0048584 positive regulation of response to stimulus biolink:OntologyClass mondo Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/GO_0048584 stimulation of response to stimulus|up-regulation of response to stimulus|activation of response to stimulus|upregulation of response to stimulus|up regulation of response to stimulus GO:0048583 regulation of response to stimulus biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/GO_0048583 GO:0061564 axon development biolink:OntologyClass mondo The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation). http://purl.obolibrary.org/obo/GO_0061564 PO:0025496 multi-tissue plant structure biolink:OntologyClass mondo A plant structure (PO:0009011) that has as parts two or more portions of plant tissue (PO:0009007) of at least two different types and which through specific morphogenetic processes forms a single structural unit demarcated by primarily bona-fide boundaries from other structural units of different types. http://purl.obolibrary.org/obo/PO_0025496 GO:0048593 camera-type eye morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/GO_0048593 camera-style eye morphogenesis MONDO:0014390 hypotrichosis 13 biolink:Disease mondo DOID:0110710|UMLS:C4014616|OMIM:615896 Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene. UMLS:C4014616|DOID:0110710|http://identifiers.org/omim/615896 http://purl.obolibrary.org/obo/MONDO_0014390 hypotrichosis caused by mutation in KRT71|hypotrichosis 13|HYPT13|hypotrichosis 13; HYPT13|hypt13|hypotrichosis type 13|hypotrichosis with woolly hair|KRT71 hypotrichosis GO:0048592 eye morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of the eye are generated and organized. http://purl.obolibrary.org/obo/GO_0048592 NCBITaxon:12845 Swine influenza virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12845 GO:1903999 negative regulation of eating behavior biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of eating behavior. http://purl.obolibrary.org/obo/GO_1903999 down regulation of eating behaviour|down regulation of eating behavior|inhibition of eating behaviour|down-regulation of eating behaviour|negative regulation of eating behaviour|inhibition of eating behavior|downregulation of eating behavior|downregulation of eating behaviour|down-regulation of eating behavior GO:1903998 regulation of eating behavior biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of eating behavior. http://purl.obolibrary.org/obo/GO_1903998 regulation of eating behaviour GO:0048598 embryonic morphogenesis biolink:OntologyClass mondo The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. http://purl.obolibrary.org/obo/GO_0048598 embryonic anatomical structure morphogenesis MONDO:0014399 PCNA-related progressive neurodegenerative photosensitivy syndrome biolink:Disease mondo OMIM:615919|ICD10:G11.3|Orphanet:438134|UMLS:C4014676 UMLS:C4014676|http://identifiers.org/omim/615919|ORPHA:438134 http://purl.obolibrary.org/obo/MONDO_0014399 ataxia-telangiectasia-like disorder 2; ATLD2|PCNA-related progressive neurodegenerative photosensitivity syndrome|ataxia-telangiectasia-like disorder 2|ATLD2|ataxia-telangiectasia-like disorder type 2 ordo_disease SO:0000704 gene biolink:SequenceFeature mondo A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. http://purl.obolibrary.org/obo/SO_0000704 INSDC_feature:gene MONDO:0014394 Diamond-Blackfan anemia 13 biolink:Disease mondo OMIM:615909|UMLS:C4014641 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene. UMLS:C4014641|http://identifiers.org/omim/615909 http://purl.obolibrary.org/obo/MONDO_0014394 Diamond-Blackfan Anemia type 13|Diamond-Blackfan anemia 13|Diamond-Blackfan anemia 13; DBA13|RPS29 Diamond-Blackfan anemia|DBA13|Diamond-Blackfan anemia caused by mutation in RPS29 MONDO:0014393 lymphedema, hereditary, 1D biolink:Disease mondo UMLS:C4014628|DOID:0070209|OMIM:615907 Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene. UMLS:C4014628|DOID:0070209|http://identifiers.org/omim/615907 http://purl.obolibrary.org/obo/MONDO_0014393 lymphedema, hereditary, ID; LMPH1D|LMPH1D|VEGFC hereditary lymphedema|lymphedema, hereditary, ID|hereditary lymphedema caused by mutation in VEGFC|lymphedema, hereditary, type 1D MONDO:0014392 developmental and epileptic encephalopathy, 25 biolink:Disease mondo OMIM:615905|GARD:0012901|UMLS:C4014621 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene. UMLS:C4014621|http://identifiers.org/omim/615905 http://purl.obolibrary.org/obo/MONDO_0014392 DEE25|SLC13A5 deficiency|early infantile epileptic encephalopathy 25|SLC13A5 early infantile epileptic encephalopathy|EIEE25|early infantile epileptic encephalopathy caused by mutation in SLC13A5|epileptic encephalopathy, early infantile, 25; EIEE25|epileptic encephalopathy, early infantile, 25|epileptic encephalopathy, early infantile, type 25 gard_rare GO:0097529 myeloid leukocyte migration biolink:OntologyClass mondo The movement of a myeloid leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/GO_0097529 MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency biolink:Disease mondo SCTID:763623001|UMLS:C4014617|Orphanet:420573|ICD10:D81.2|OMIM:615897 Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. SNOMEDCT:763623001|UMLS:C4014617|ORPHA:420573|http://identifiers.org/omim/615897 http://purl.obolibrary.org/obo/MONDO_0014391 immunodeficiency 24; IMD24|IMD24|immunodeficiency type 24|SCID due to CTPS1 deficiency|immunodeficiency 24 ordo_disease MONDO:0014398 combined oxidative phosphorylation defect type 21 biolink:Disease mondo ICD10:E88.8|OMIM:615918|UMLS:C4014668|SCTID:763211004|EFO:0009032|Orphanet:420733 Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. UMLS:C4014668|ORPHA:420733|SNOMEDCT:763211004|http://identifiers.org/omim/615918 http://purl.obolibrary.org/obo/MONDO_0014398 combined oxidative phosphorylation deficiency 21|COXPD21|TARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 21|combined oxidative phosphorylation deficiency caused by mutation in TARS2|combined oxidative phosphorylation deficiency 21; COXPD21 ordo_disease MONDO:0014397 combined oxidative phosphorylation defect type 20 biolink:Disease mondo UMLS:C4014660|OMIM:615917|Orphanet:420728|ICD10:G31.8 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene. UMLS:C4014660|ORPHA:420728|http://identifiers.org/omim/615917 http://purl.obolibrary.org/obo/MONDO_0014397 combined oxidative phosphorylation deficiency 20|COXPD20|VARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in VARS2|combined oxidative phosphorylation deficiency type 20|combined oxidative phosphorylation deficiency 20; COXPD20 ordo_disease MONDO:0014396 dilated cardiomyopathy 1NN biolink:Disease mondo DOID:0110432|ICD10:I42.0|UMLS:C4014656|OMIM:615916 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene. UMLS:C4014656|DOID:0110432|http://identifiers.org/omim/615916 http://purl.obolibrary.org/obo/MONDO_0014396 CMD1NN|cardiomyopathy, dilated, type 1Nn|familial isolated dilated cardiomyopathy caused by mutation in RAF1|cardiomyopathy, dilated, 1NN; CMD1NN|cardiomyopathy, dilated, 1NN|RAF1 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1NN MONDO:0014395 FTDALS2 biolink:Disease mondo UMLS:C4014648|OMIM:615911|DOID:0060214 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. UMLS:C4014648|DOID:0060214|http://identifiers.org/omim/615911 http://purl.obolibrary.org/obo/MONDO_0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis type 2|FTDALS2|frontotemporal dementia and/or amyotrophic lateral sclerosis 2|frontotemporal dementia and/or amyotrophic lateral sclerosis 2; FTDALS2 MONDO:0002398 mucinous adenofibroma biolink:Disease mondo DOID:2700|ICDO:9015/0|NCIT:C8978|UMLS:C0334499 A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential. NCIT:C8978|DOID:2700|UMLS:C0334499 http://purl.obolibrary.org/obo/MONDO_0002398 mucinous adenofibroma MONDO:0002399 tenosynovial giant cell tumor, localized type biolink:Disease mondo DOID:2701|ICD9:727.02|NCIT:C6532|SCTID:95413004|COHD:436200|UMLS:C0588125 A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site. SNOMEDCT:95413004|DOID:2701|NCIT:C6532|UMLS:C0588125 http://purl.obolibrary.org/obo/MONDO_0002399 tenosynovial giant cell tumor, localized type|localized tenosynovial giant cell neoplasm|localized giant cell tumor of tendon sheath|benign tumor of synovium|synovioma, benign (morphologic abnormality)|localized giant cell tumor of Tenosynovium|localized giant cell neoplasm of Tenosynovium|localized giant cell neoplasm of the Tenosynovium|localized giant cell neoplasm of tendon sheath|synovioma, benign|localized tenosynovial giant cell tumor|localized giant cell tumor of the Tenosynovium|nodular tenosynovitis|benign synovioma MONDO:0002394 obsolete Leydig cell tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002394 MONDO:0002395 renal adenoma biolink:Disease mondo UMLS:C0334684|DOID:2697|NCIT:C8383 An adenoma arising from the renal cortex. NCIT:C8383|DOID:2697|UMLS:C0334684 http://purl.obolibrary.org/obo/MONDO_0002395 renal tubule adenoma|renal adenoma|renal cell adenoma|kidney adenoma|renal cell adenoma (morphologic abnormality)|adenoma, renal cell, benign MONDO:0002396 nephrogenic adenofibroma biolink:Disease mondo DOID:2698|ICDO:8965/0|NCIT:C39812|UMLS:C1266141 A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. UMLS:C1266141|DOID:2698|NCIT:C39812 http://purl.obolibrary.org/obo/MONDO_0002396 metanephric adenofibroma MONDO:0002397 liver sarcoma biolink:Disease mondo SCTID:254601002|DOID:270|UMLS:C0345906|NCIT:C4437 A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma. UMLS:C0345906|DOID:270|NCIT:C4437|SNOMEDCT:254601002 http://purl.obolibrary.org/obo/MONDO_0002397 sarcoma of liver|sarcoma of the liver|hepatic sarcoma|liver sarcoma GO:1901343 negative regulation of vasculature development biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/GO_1901343 down-regulation of vascular system development|negative regulation of vascular system development|down regulation of vascular system development|down-regulation of vasculature development|downregulation of vascular system development|down regulation of vasculature development|inhibition of vasculature development|inhibition of vascular system development|downregulation of vasculature development MONDO:0002390 obsolete ossifying fibromyxoid tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002390 MONDO:0002391 obsolete skin sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002391 MONDO:0002392 obsolete lymphangiosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002392 MONDO:0002393 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002393 GO:1901342 regulation of vasculature development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/GO_1901342 regulation of vascular system development MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency biolink:Disease mondo OMIM:615895|UMLS:C4014605 UMLS:C4014605|http://identifiers.org/omim/615895 http://purl.obolibrary.org/obo/MONDO_0014389 PGBM1|polyglucosan body myopathy 1 with or without immunodeficiency|polyglucosan body myopathy, early-onset, with or without immunodeficiency|polyglucosan body myopathy 1 with or without immunodeficiency; PGBM1 MONDO:0014388 familial median cleft of the upper and lower lips biolink:Disease mondo Orphanet:401942|OMIM:615892|ICD10:Q36.1 Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family. http://identifiers.org/omim/615892|ORPHA:401942 http://purl.obolibrary.org/obo/MONDO_0014388 OFC14|orofacial cleft 14|orofacial cleft 14; OFC14 ordo_malformation_syndrome MONDO:0014383 myopathy, tubular aggregate, 2 biolink:Disease mondo OMIM:615883|UMLS:C4014557 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene. UMLS:C4014557|http://identifiers.org/omim/615883 http://purl.obolibrary.org/obo/MONDO_0014383 ORAI1 tubular aggregate myopathy|myopathy, tubular aggregate, 2; TAM2|tubular aggregate myopathy caused by mutation in ORAI1|myopathy, tubular aggregate, type 2|myopathy, tubular aggregate, 2|TAM2 MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome biolink:Disease mondo Orphanet:404443|ICD10:Q87.3|SCTID:768843007|OMIM:615879|UMLS:C4014545 UMLS:C4014545|ORPHA:404443|http://identifiers.org/omim/615879|SNOMEDCT:768843007 http://purl.obolibrary.org/obo/MONDO_0014382 TBRS|DNMT3A-related overgrowth syndrome|TATTON-BROWN-Rahman syndrome|Tatton-Brown-Rahman overgrowth syndrome|TATTON-BROWN-Rahman syndrome; TBRS ordo_malformation_syndrome SO:0000733 feature_attribute biolink:SequenceFeature mondo An attribute describing a located_sequence_feature. http://purl.obolibrary.org/obo/SO_0000733 feature attribute MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 biolink:Disease mondo GARD:0009803|UMLS:C2931067|OMIM:615878|UMLS:CN776838|Orphanet:480483|DOID:0070224 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene. ORPHA:480483|UMLS:C2931067|UMLS:CN776838|DOID:0070224|http://identifiers.org/omim/615878 http://purl.obolibrary.org/obo/MONDO_0014381 cholestasis, progressive familial intrahepatic, 4; PFIC4|TJP2 deficit|cholestasis, progressive familial intrahepatic, 4|progressive familial intrahepatic cholestasis 4|cholestasis, progressive familial intrahepatic, type 4|cholestasis, progressive familial intrahepatic 4|TJP2 progressive familial intrahepatic cholestasis|progressive familial intrahepatic cholestasis caused by mutation in TJP2|PFIC4|progressive familial intrahepatic cholestasis type 4 ordo_clinical_subtype MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome biolink:Disease mondo UMLS:C4014540|Orphanet:424099|OMIM:615877|ICD10:Q87.5 Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. UMLS:C4014540|http://identifiers.org/omim/615877|ORPHA:424099 http://purl.obolibrary.org/obo/MONDO_0014380 microphthalmia, syndromic 14; MCOPS14|microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic type 14|microphthalmia/coloboma and skeletal dysplasia syndrome; MCSKS|microphthalmia/coloboma and skeletal dysplasia syndrome|MCOPS14|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia|MCSKS ordo_malformation_syndrome MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure biolink:Disease mondo UMLS:C4014588|OMIM:615889 UMLS:C4014588|http://identifiers.org/omim/615889 http://purl.obolibrary.org/obo/MONDO_0014387 LKENP|leukoencephalopathy, progressive, with ovarian failure|leukoencephalopathy, progressive, with ovarian failure; LKENP MONDO:0014386 platelet-type bleeding disorder 18 biolink:Disease mondo DOID:0111051|ICD10:D69.1|UMLS:C4014584|Orphanet:420566|OMIM:615888 Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. DOID:0111051|UMLS:C4014584|ORPHA:420566|http://identifiers.org/omim/615888 http://purl.obolibrary.org/obo/MONDO_0014386 bleeding disorder, platelet-type, 18; BDPLT18|bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency|RASGRP2 inherited bleeding disorder, platelet-type|BDPLT18|inherited bleeding disorder, platelet-type caused by mutation in RASGRP2|bleeding disorder due to CalDAG-GEFI deficiency|bleeding disorder, platelet-type, 18 ordo_disease MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 biolink:Disease mondo ICD10:K00.5|OMIM:615887|DOID:0110063|UMLS:C4014578 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene. DOID:0110063|UMLS:C4014578|http://identifiers.org/omim/615887 http://purl.obolibrary.org/obo/MONDO_0014385 amelogenesis imperfecta type IIA5|amelogenesis imperfecta hypomaturation type IIA5|amelogenesis imperfecta, hypomaturation type, IIA5|AI2A5|SLC24A4 amelogenesis imperfecta|amelogenesis imperfecta, hypomaturation type, IIA5; AI2A5|amelogenesis imperfecta caused by mutation in SLC24A4 MONDO:0014384 hypotrichosis 12 biolink:Disease mondo UMLS:C4014563|OMIM:615885|DOID:0110709 Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene. UMLS:C4014563|DOID:0110709|http://identifiers.org/omim/615885 http://purl.obolibrary.org/obo/MONDO_0014384 hypotrichosis 12|hypt12|HYPT12|hypotrichosis type 12|hypotrichosis 12; HYPT12|RPL21 hypotrichosis|hypotrichosis caused by mutation in RPL21 GO:1901361 organic cyclic compound catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. http://purl.obolibrary.org/obo/GO_1901361 organic cyclic compound breakdown|organic cyclic compound degradation|organic cyclic compound catabolism GO:1901362 organic cyclic compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of organic cyclic compound. http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound synthesis|organic cyclic compound biosynthesis|organic cyclic compound formation|organic cyclic compound anabolism MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder biolink:Disease mondo OMIM:615873|GARD:0012931|DOID:0070058|SCTID:766824003|Orphanet:404448|UMLS:C4014538|ICD10:Q87.0 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. SNOMEDCT:766824003|UMLS:C4014538|ORPHA:404448|DOID:0070058|http://identifiers.org/omim/615873 http://purl.obolibrary.org/obo/MONDO_0014379 MRD28|Helsmoortel-VAN DER AA syndrome; HVDAS|autosomal dominant intellectual disability 28|ADNP syndrome|autosomal dominant mental retardation 28|Helsmoortel-VAN DER AA syndrome|intellectual disability, autosomal dominant 28|mental retardation, autosomal dominant 28|HVDAS ordo_malformation_syndrome MONDO:0014378 primary ciliary dyskinesia 29 biolink:Disease mondo UMLS:C4014534|OMIM:615872|DOID:0110600|ICD10:Q34.8 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene. UMLS:C4014534|DOID:0110600|http://identifiers.org/omim/615872 http://purl.obolibrary.org/obo/MONDO_0014378 CILD29|ciliary dyskinesia, primary, 29, without situs inversus|ciliary dyskinesia, primary, type 29|primary ciliary dyskinesia type 29|ciliary dyskinesia, primary, 29|CCNO primary ciliary dyskinesia|ciliary dyskinesia, primary, 29; CILD29|primary ciliary dyskinesia 29 without situs inversus|primary ciliary dyskinesia caused by mutation in CCNO CL:0001200 lymphocyte of B lineage, CD19-positive biolink:Cell mondo A lymphocyte of B lineage that is CD19-positive. http://purl.obolibrary.org/obo/CL_0001200 MONDO:0014377 developmental and epileptic encephalopathy, 24 biolink:Disease mondo UMLS:C4014531|OMIM:615871 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene. UMLS:C4014531|http://identifiers.org/omim/615871 http://purl.obolibrary.org/obo/MONDO_0014377 epileptic encephalopathy, early infantile, 24; EIEE24|DEE24|epileptic encephalopathy, early infantile, 24|epileptic encephalopathy, early infantile, type 24|HCN1 early infantile epileptic encephalopathy|EIEE24|early infantile epileptic encephalopathy caused by mutation in HCN1 GO:1901360 organic cyclic compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving organic cyclic compound. http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolism CL:0001201 B cell, CD19-positive biolink:Cell mondo A B cell that is CD19-positive. http://purl.obolibrary.org/obo/CL_0001201 CD19-positive B cell|B-lymphocyte, CD19-positive|CD19+ B cell|B lymphocyte, CD19-positive|B-cell, CD19-positive MONDO:0014372 cone-rod dystrophy 19 biolink:Disease mondo OMIM:615860|DOID:0111025|UMLS:C4014501 Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene. DOID:0111025|UMLS:C4014501|http://identifiers.org/omim/615860 http://purl.obolibrary.org/obo/MONDO_0014372 TTLL5 cone-rod dystrophy|CORD19|cone-rod dystrophy type 19|cone-rod dystrophy 19|cone-rod dystrophy caused by mutation in TTLL5|cone-rod dystrophy 19; CORD19 MONDO:0014371 developmental and epileptic encephalopathy, 23 biolink:Disease mondo ICD10:G40.4|UMLS:C4014492|OMIM:615859|Orphanet:411986 ORPHA:411986|UMLS:C4014492|http://identifiers.org/omim/615859 http://purl.obolibrary.org/obo/MONDO_0014371 DEE18|early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome|epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome|EIEE23|epileptic encephalopathy, early infantile, 23|epileptic encephalopathy, early infantile, 23; EIEE23|epileptic encephalopathy, early infantile, type 23 ordo_malformation_syndrome MONDO:0014370 pontocerebellar hypoplasia type 2E biolink:Disease mondo OMIM:615851|DOID:0060271|UMLS:C4014488 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene. UMLS:C4014488|DOID:0060271|http://identifiers.org/omim/615851 http://purl.obolibrary.org/obo/MONDO_0014370 PCH2E|pontocerebellar hypoplasia, type 2E; PCH2E|VPS53 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 2E|non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53 MONDO:0014376 intellectual disability, autosomal dominant 27 biolink:Disease mondo DOID:0070057|UMLS:C4014528|OMIM:615866 UMLS:C4014528|DOID:0070057|http://identifiers.org/omim/615866 http://purl.obolibrary.org/obo/MONDO_0014376 mental retardation, autosomal dominant type 27|intellectual disability, autosomal dominant 27|intellectual disability, autosomal dominant 27; MRD27|autosomal dominant intellectual disability 27|autosomal dominant non-syndromic intellectual disability 27|autosomal dominant mental retardation 27|intellectual disability, autosomal dominant type 27|mental retardation, autosomal dominant 27|MRD27|mental retardation, autosomal dominant 27; MRD27 MONDO:0014375 congenital diarrhea 7 with exudative enteropathy biolink:Disease mondo Orphanet:329242|ICD10:P78.3|OMIM:615863|UMLS:C4014516|DOID:0060778 Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. ORPHA:329242|UMLS:C4014516|DOID:0060778|http://identifiers.org/omim/615863 http://purl.obolibrary.org/obo/MONDO_0014375 diarrhea 7|DGAT1 congenital diarrhea|diarrhea type 7|congenital chronic diarrhea with protein-losing enteropathy|congenital diarrhea caused by mutation in DGAT1|diarrhea 7; DIAR7|DIAR7|congenital chronic diarrhea with exudative enteropathy ordo_disease MONDO:0014374 nephronophthisis 18 biolink:Disease mondo UMLS:C3890591|OMIM:615862|DOID:0111125 Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. DOID:0111125|UMLS:C3890591|http://identifiers.org/omim/615862 http://purl.obolibrary.org/obo/MONDO_0014374 nephronophthisis (disease) caused by mutation in CEP83|NPHP18|nephronophthisis type 18|nephronophthisis 18; NPHP18|CEP83 nephronophthisis (disease)|nephronophthisis 18 GO:0097503 sialylation biolink:OntologyClass mondo The covalent attachment of sialic acid to a substrate molecule. http://purl.obolibrary.org/obo/GO_0097503 MONDO:0014373 nephrotic syndrome, type 10 biolink:Disease mondo OMIM:615861|UMLS:C4014507 Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. UMLS:C4014507|http://identifiers.org/omim/615861 http://purl.obolibrary.org/obo/MONDO_0014373 EMP2 nephrotic syndrome|nephrotic syndrome, type 10; NPHS10|NPHS10|nephrotic syndrome, type 10|nephrotic syndrome caused by mutation in EMP2 GO:1901363 heterocyclic compound binding biolink:OntologyClass mondo Interacting selectively and non-covalently with heterocyclic compound. http://purl.obolibrary.org/obo/GO_1901363 NCBITaxon:12870 Variola major virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12870 variola major virus VAR HGNC:23198 CYP4V2 biolink:OntologyClass mondo http://identifiers.org/hgnc/23198 NCBITaxon:36831 Clostridium botulinum F organism taxon mondo GC_ID:11|PMID:8863443 http://purl.obolibrary.org/obo/NCBITaxon_36831 NCBITaxon:36830 Clostridium botulinum E organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_36830 GO:0097530 granulocyte migration biolink:OntologyClass mondo The movement of a granulocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/GO_0097530 NCBITaxon:1648037 Poodae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1648037 HGNC:23168 FANCM biolink:OntologyClass mondo http://identifiers.org/hgnc/23168 NCBITaxon:1648038 Triticodae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1648038 HGNC:11180 SOD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11180 CHEBI:36093 inorganic chloride biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36093 inorganic chloride salt|inorganic chlorides|inorganic chloride salts HGNC:23162 ALG10 biolink:OntologyClass mondo http://identifiers.org/hgnc/23162 NCBITaxon:1648030 Triticinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1648030 HGNC:23161 ALG8 biolink:OntologyClass mondo http://identifiers.org/hgnc/23161 HGNC:23166 PNPT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23166 MONDO:0041996 thallium poisoning biolink:Disease mondo SCTID:51040009 SNOMEDCT:51040009 http://purl.obolibrary.org/obo/MONDO_0041996 thallium poisoning NCBITaxon:36827 Clostridium botulinum B organism taxon mondo PMID:8863443|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_36827 NCBITaxon:36826 Clostridium botulinum A organism taxon mondo PMID:8863443|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_36826 HGNC:11183 SON biolink:OntologyClass mondo http://identifiers.org/hgnc/11183 HGNC:11188 SOS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11188 HGNC:11187 SOS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11187 HGNC:11185 SORL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11185 HGNC:11191 SOX11 biolink:OntologyClass mondo http://identifiers.org/hgnc/11191 HGNC:11190 SOX10 biolink:OntologyClass mondo http://identifiers.org/hgnc/11190 HGNC:11195 SOX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11195 HGNC:11194 SOX18 biolink:OntologyClass mondo http://identifiers.org/hgnc/11194 HGNC:11199 SOX3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11199 MONDO:0002336 inflammatory and toxic neuropathy biolink:Disease mondo ICD9:357.7|DOID:2537|COHD:378140|ICD9:357|ICD9:357.9|SCTID:267601009|ICD9:357.8 DOID:2537|SNOMEDCT:267601009 http://purl.obolibrary.org/obo/MONDO_0002336 MONDO:0004999 obsolete chondrosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004999 MONDO:0002337 intra-abdominal hemangioma biolink:Disease mondo ICD10:D18.03|ICD9:228.04|UMLS:C0154052|DOID:254|COHD:197239|NCIT:C3635|SCTID:189197001 A hemangioma arising from organs within the abdominal cavity. UMLS:C0154052|SNOMEDCT:189197001|NCIT:C3635|DOID:254 http://purl.obolibrary.org/obo/MONDO_0002337 hemangioma of intra-abdominal structure|hemangioma of intra-abdominal structures|intra-abdominal hemangioma|hemangioma, intra-abdominal|abdominal cavity hemangioma|hemangioma of abdominal cavity MONDO:0004998 obsolete chondromyxoid fibroma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004998 MONDO:0002338 extratemporal epilepsy biolink:Disease mondo SCTID:111498005|ICD9:345.80|NCIT:C7760|DOID:2544|UMLS:C0270849 An epilepsy syndrome that is located in an area of the brain other than the temporal lobe. DOID:2544|NCIT:C7760|SNOMEDCT:111498005|UMLS:C0270849 http://purl.obolibrary.org/obo/MONDO_0002338 extratemporal epilepsy NCBITaxon:10255 Variola virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10255 small pox virus|variola virus VAR|smallpox virus|smallpox HGNC:23147 UNC13D biolink:OntologyClass mondo http://identifiers.org/hgnc/23147 MONDO:0002339 obsolete hemangioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002339 MONDO:0002332 splenic disease biolink:Disease mondo DOID:2529|ICD10:D73|EFO:0009002|NCIT:C35823|ICD9:289.50|SCTID:51244008|UMLS:C0037997|MESH:D013158|ICD10:D73.9 A disease involving the spleen. DOID:2529|MESH:D013158|NCIT:C35823|SNOMEDCT:51244008|UMLS:C0037997 http://purl.obolibrary.org/obo/MONDO_0002332 splenic disorder|spleen disease or disorder|disorder of spleen|spleen disease|spleen disorder|disease of spleen|disease or disorder of spleen|disorder of spleen|splenic disease|Dyssplenism MONDO:0004995 cardiovascular disease biolink:Disease mondo SCTID:49601007|ICD9:429.81|MESH:D002318|NCIT:C2931|EFO:0000319|ICD9:423.8|ICD9:390-459.99|ICD9:429|ICD9:429.89|UMLS:C0007222|ICD9:459.9|ICD9:424|ICD9:423|ICD10:I00.I99|ICD9:429.8|ICD9:420-429.99|DOID:1287|ICD9:429.2|ICD9:459.89|ICD9:429.7 A disease involving the cardiovascular system. DOID:1287|MESH:D002318|NCIT:C2931|SNOMEDCT:49601007|UMLS:C0007222 http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disorder|disease of subdivision of hemolymphoid system|cardiovascular disease (CVD)|disorder of cardiovascular system|cardiovascular disease|cardiovascular system disease|disease or disorder of cardiovascular system|circulatory system disease|disease of cardiovascular system|disorder of cardiovascular system|cardiovascular system disease or disorder NCBITaxon:10257 Parapoxvirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10257 MONDO:0004994 cardiomyopathy biolink:Disease mondo ICD10:I42.9|MESH:D009202|EFO:0000318|SCTID:85898001|ICD10:I42|GARD:0011958|ICD9:425|Orphanet:167848|MedDRA:10007636|ICD10:I51.5|COHD:321319|UMLS:C0878544|NCIT:C34830|ICD9:425.9|DOID:0050700|ICD9:425.4 A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. UMLS:C0878544|SNOMEDCT:85898001|ORPHA:167848|MESH:D009202|MEDDRA:10007636|DOID:0050700|NCIT:C34830 http://purl.obolibrary.org/obo/MONDO_0004994 Cardiomyopathies|cardiomyopathy ordo_group_of_disorders NCBITaxon:10258 Orf virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10258 Contagious pustular dermatitis virus MONDO:0002333 splenic abscess (disease) biolink:Disease mondo HP:0025059|NCIT:C35347|ICD9:289.59|SCTID:82053000|UMLS:C0272412|ICD10:D73.3|DOID:2530 An abscess that is located in the spleen. DOID:2530|SNOMEDCT:82053000|UMLS:C0272412|NCIT:C35347 http://purl.obolibrary.org/obo/MONDO_0002333 splenic abscess MONDO:0004997 chondroblastoma (disease) biolink:Disease mondo DOID:2649|ONCOTREE:CHBL|NCIT:C2945|MESH:D002804|GARD:0006047|UMLS:C0008441|EFO:0000331|HP:0030432|ICDO:9230/0 A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes. DOID:2649|MESH:D002804|NCIT:C2945|UMLS:C0008441 http://purl.obolibrary.org/obo/MONDO_0004997 chondroblastoma|chondroblastoma of bone|CHBL MONDO:0002334 hematopoietic and lymphoid system neoplasm biolink:Disease mondo UMLS:C1512393|UMLS:C0376544|SCTID:129154003|NCIT:C35813|UMLS:C0376545|MESH:D019337|DOID:2531 Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 MESH:D019337|DOID:2531|UMLS:C0376544|UMLS:C0376545|SNOMEDCT:129154003|NCIT:C35813|UMLS:C1512393 http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic neoplasm|blood cancer|hematologic malignancy|neoplasm of blood|hematopoietic cancer|blood tumor|hematopoietic and lymphoid system tumor|neoplasm of hematopoietic system|hematopoietic system tumor|hematopoietic tumors|malignant hematopoietic neoplasm (morphologic abnormality)|blood neoplasm (disease)|hematologic cancer|malignant hematopoietic neoplasm|tumor of blood|hematological tumors|hematologic neoplasm|tumor of hematopoietic system|hematopoietic neoplasm (morphologic abnormality)|hematopoietic and lymphoid system neoplasm|hematopoietic system neoplasm MONDO:0004996 childhood acute myeloid leukemia biolink:Disease mondo UMLS:C0220621|NCIT:C9160|ICDO:M9861/3|DOID:0070323|EFO:0000330 Acute myeloid leukemia occurring in childhood. UMLS:C0220621|DOID:0070323|NCIT:C9160 http://purl.obolibrary.org/obo/MONDO_0004996 childhood acute myeloblastic leukemia|acute myeloid leukemia (AML)|pediatric acute myeloid leukemia|childhood acute granulocytic leukemia|pediatric acute myelogenous leukemia|acute myeloid leukemia of childhood|paediatric acute myeloid leukaemia|childhood acute myelocytic leukemia|pediatric AML|pediatric acute myeloid leukemia|pediatric acute myeloblastic leukemia|childhood acute myeloid leukemia|childhood acute myelogenous leukemia|childhood acute myeloid leukaemia|childhood AML|pediatric acute myelocytic leukemia MONDO:0002335 chronic inflammatory demyelinating polyneuritis biolink:Disease mondo ICD10:G61.81|ICD9:357.81|NCIT:C84636|DOID:2536|SCTID:444728005 An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms. DOID:2536|NCIT:C84636|SNOMEDCT:444728005 http://purl.obolibrary.org/obo/MONDO_0002335 chronic inflammatory demyelinating polyneuropathy MONDO:0004991 minimally invasive lung adenocarcinoma biolink:Disease mondo EFO:0000308|ICD9:162.9|DOID:4926|NCIT:C2923|MESH:D002282|SCTID:373627005|ICDO:8251/3|ICDO:8250/3 A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous. SNOMEDCT:373627005|MESH:D002282|NCIT:C2923|DOID:4926 http://purl.obolibrary.org/obo/MONDO_0004991 bronchiolo-alveolar lung carcinoma|minimally invasive lung adenocarcinoma|bronchioalveolar lung carcinoma|bronchioalveolar adenocarcinoma of lung|bac|bronchiolo-alveolar adenocarcinoma|bronchioalveolar adenocarcinoma of the lung|carcinoma, bronchioloalveolar, malignant|bronchiolo-alveolar carcinoma of lung|bronchioloalveolar adenocarcinoma of lung|bronchiolo-alveolar carcinoma of the lung|bronchioloalveolar adenocarcinoma of the lung|bronchioloalveolar lung adenocarcinoma|bronchioloalveolar carcinoma MONDO:0004990 breast tumor luminal A or B biolink:Disease mondo DOID:0060548|EFO:0000306 Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells. DOID:0060548 http://purl.obolibrary.org/obo/MONDO_0004990 breast tumor luminal|luminal breast cancer|luminal breast carcinoma HGNC:23141 TRMT5 biolink:OntologyClass mondo http://identifiers.org/hgnc/23141 MONDO:0002330 alcoholic psychosis biolink:Disease mondo ICD9:291.89|EFO:1001260|MESH:D011604|DOID:252|ICD9:291.9|ICD9:291.8|SCTID:42344001 A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol. DOID:252|SNOMEDCT:42344001|MESH:D011604 http://purl.obolibrary.org/obo/MONDO_0002330 alcoholic psychoses MONDO:0004993 carcinoma biolink:Disease mondo NCIT:C2916|DOID:305|UMLS:C0007097|EFO:0000313|SCTID:722688002|ICDO:8011/3|ICDO:8010/3|MESH:D002277|CSP:2000-1867 A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. MESH:D002277|NCIT:C2916|DOID:305|UMLS:C0007097|SNOMEDCT:722688002 http://purl.obolibrary.org/obo/MONDO_0004993 malignant epithelioma|carcinoma, malignant|malignant epithelial neoplasm|malignant epithelial tumor|epithelial carcinoma|epithelioma|epithelioma malignant|carcinoma, NOS|carcinoma|Other carcinoma MONDO:0004992 cancer biolink:Disease mondo DOID:162|ICD9:195.8|NCIT:C9305|ICD10:C80.1|COHD:443392|ICD9:199.1|ICD10:C80|SCTID:363346000|ONCOTREE:MT|EFO:0000311|DOID:0050687|NIFSTD:birnlex_406|ICD9:199|DOID:0050686|GARD:0011960|UMLS:C0006826|ICDO:8000/3 A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. UMLS:C0006826|SNOMEDCT:363346000|DOID:162|NCIT:C9305|DOID:0050686|DOID:0050687 http://purl.obolibrary.org/obo/MONDO_0004992 cancer|malignant tumor|primary cancer|malignancy|cell type cancer|malignant neoplasm|MT|malignant Growth|organ system cancer|CA|malignant neoplastic disease|neoplasm, malignant|malignant neoplasm (disease)|neoplasm (disease), malignant MONDO:0002331 nephrosis biolink:Disease mondo MESH:D009401|DOID:2527|UMLS:C0027720 Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. DOID:2527|UMLS:C0027720|MESH:D009401 http://purl.obolibrary.org/obo/MONDO_0002331 Nephroses MONDO:0014319 renal hypodysplasia/aplasia 2 biolink:Disease mondo OMIM:615721|UMLS:C3810359 Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. UMLS:C3810359|http://identifiers.org/omim/615721 http://purl.obolibrary.org/obo/MONDO_0014319 renal hypodysplasia/aplasia 2; RHDA2|renal hypodysplasia/aplasia 2|renal hypodysplasia/aplasia type 2|RHDA2|FGF20 renal agenesis (disease)|renal agenesis (disease) caused by mutation in FGF20 HGNC:23143 SYT14 biolink:OntologyClass mondo http://identifiers.org/hgnc/23143 MONDO:0014325 pachyonychia congenita 4 biolink:Disease mondo UMLS:C3714949|OMIM:615728 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene. http://identifiers.org/omim/615728|UMLS:C3714949 http://purl.obolibrary.org/obo/MONDO_0014325 pachyonychia congenita caused by mutation in KRT6B|pachyonychia congenita type 4|pachyonychia congenita 4|KRT6B pachyonychia congenita|pachyonychia congenita 4; PC4|PC4 MONDO:0016988 hyperinsulinism due to HNF4A deficiency biolink:Disease mondo ICD10:E16.1|SCTID:717048002|UMLS:C4274078|Orphanet:263455 Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1). ORPHA:263455|UMLS:C4274078|SNOMEDCT:717048002 http://purl.obolibrary.org/obo/MONDO_0016988 hyperinsulinemic hypoglycemia due to HNF4A deficiency ordo_disease MONDO:0014324 pachyonychia congenita 3 biolink:Disease mondo UMLS:C3714948|OMIM:615726 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene. http://identifiers.org/omim/615726|UMLS:C3714948 http://purl.obolibrary.org/obo/MONDO_0014324 pachyonychia congenita caused by mutation in KRT6A|PC3|pachyonychia congenita 3|KRT6A pachyonychia congenita|pachyonychia congenita 3; PC3|pachyonychia congenita type 3 MONDO:0016989 Fuchs heterochromic iridocyclitis biolink:Disease mondo ICD10:H20.8|GARD:0006791|MedDRA:10017406|Orphanet:263479 Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities. ORPHA:263479|UMLS:C0016782|MEDDRA:10017406 http://purl.obolibrary.org/obo/MONDO_0016989 Fuchs heterochromic cyclitis|FHI|Fuchs heterochromic uveitis ordo_disease MONDO:0014323 retinitis pigmentosa 68 biolink:Disease mondo UMLS:C3810380|ICD10:H35.5|DOID:0110374|OMIM:615725 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene. http://identifiers.org/omim/615725|UMLS:C3810380|DOID:0110374 http://purl.obolibrary.org/obo/MONDO_0014323 SLC7A14 retinitis pigmentosa|retinitis pigmentosa 68; RP68|retinitis pigmentosa caused by mutation in SLC7A14|RP68|retinitis pigmentosa 68|retinitis pigmentosa type 68 MONDO:0014322 premature ovarian failure 9 biolink:Disease mondo UMLS:C3810376|OMIM:615724 Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene. http://identifiers.org/omim/615724|UMLS:C3810376 http://purl.obolibrary.org/obo/MONDO_0014322 premature ovarian failure 9; Pof9|HFM1 primary ovarian failure|Pof9|premature ovarian failure 9|primary ovarian failure caused by mutation in HFM1|premature ovarian failure type 9 HGNC:11167 SNTA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11167 MONDO:0014329 atrial standstill 2 biolink:Disease mondo UMLS:C3810401|OMIM:615745 Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene. http://identifiers.org/omim/615745|UMLS:C3810401 http://purl.obolibrary.org/obo/MONDO_0014329 atrial standstill type 2|atrial standstill caused by mutation in NPPA|atrial standstill 2; ATRST2|NPPA atrial standstill|ATRST2|atrial dilation and standstill|cardiomyopathy, atrial dilated, with atrial standstill|atrial standstill 2 MONDO:0016984 nevus of Ota biolink:Disease mondo SCTID:414929001|Orphanet:263425|ICD9:224.0|MESH:D009507|ICD10:D22.3|UMLS:C0027961|NCIT:C7583|MedDRA:10051713|EFO:1000396 Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus. SNOMEDCT:414929001|ORPHA:263425|UMLS:C0027961|MESH:D009507|MEDDRA:10051713|NCIT:C7583 http://purl.obolibrary.org/obo/MONDO_0016984 oculocutaneous melanocytic Nevus|oculodermal melanocytosis|Ota's Nevus|Nevus fusculoceruleus ophthalmomaxillaris ordo_disease MONDO:0016985 nevus of Ito biolink:Disease mondo GARD:0010830|UMLS:C0022283|Orphanet:263432|NCIT:C7582|EFO:1000395|UMLS:CN202288|ICD10:D22.6 Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter. UMLS:C0022283|ORPHA:263432|UMLS:CN202288|NCIT:C7582 http://purl.obolibrary.org/obo/MONDO_0016985 nevi of Ito|Nevus fuscocaeruleus acromiodeltoideus|Ito's Nevus|hypomelanosis of Ito ordo_disease MONDO:0014328 developmental and epileptic encephalopathy, 19 biolink:Disease mondo NCIT:C142802|UMLS:C3810400|OMIM:615744 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene. NCIT:C142802|UMLS:C3810400|http://identifiers.org/omim/615744 http://purl.obolibrary.org/obo/MONDO_0014328 epileptic encephalopathy, early infantile, type 19|DEE19|epileptic encephalopathy, early infantile, 19; EIEE19|EIEE19|Early Infantile epileptic encephalopathy 19|early infantile epileptic encephalopathy caused by mutation in GABRA1|GABRA1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 19 MONDO:0016986 congenital smooth muscle hamartoma biolink:Disease mondo Orphanet:263435|ICD9:759.6|UMLS:C0406819|SCTID:239144007 Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported. SNOMEDCT:239144007|ORPHA:263435|UMLS:C0406819 http://purl.obolibrary.org/obo/MONDO_0016986 ordo_disease MONDO:0014327 autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering biolink:Disease mondo ICD10:Q82.8|OMIM:615735|Orphanet:402003|UMLS:C3810394 ORPHA:402003|http://identifiers.org/omim/615735|UMLS:C3810394 http://purl.obolibrary.org/obo/MONDO_0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse; PPKNEFD|PPKNEFD|palmoplantar keratoderma, nonepidermolytic, focal or diffuse ordo_disease MONDO:0014326 nemaline myopathy 9 biolink:Disease mondo OMIM:615731|DOID:0110929|UMLS:C3810384 Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene. DOID:0110929|UMLS:C3810384|http://identifiers.org/omim/615731 http://purl.obolibrary.org/obo/MONDO_0014326 nemaline myopathy 9; NEM9|nemaline myopathy caused by mutation in KLHL41|nemaline myopathy type 9|nemaline myopathy 9|KLHL41 nemaline myopathy|NEM9 MONDO:0016987 neuroacanthocytosis biolink:Disease mondo NCIT:C84926|DOID:0050765|Orphanet:263440|GARD:0010902 Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. ORPHA:263440|NCIT:C84926|DOID:0050765 http://purl.obolibrary.org/obo/MONDO_0016987 neuroacanthocytosis syndrome ordo_group_of_disorders MONDO:0016980 ATR-X-related syndrome biolink:Disease mondo UMLS:CN202282|Orphanet:263355 UMLS:CN202282|ORPHA:263355 http://purl.obolibrary.org/obo/MONDO_0016980 ordo_group_of_disorders MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome biolink:Disease mondo Orphanet:263410|UMLS:CN202284 ORPHA:263410|UMLS:CN202284 http://purl.obolibrary.org/obo/MONDO_0016981 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome ordo_disease HGNC:11161 SNRPE biolink:OntologyClass mondo http://identifiers.org/hgnc/11161 MONDO:0016982 angiosarcoma (disease) biolink:Disease mondo HP:0200058|EFO:0003968|ICD9:171.9|EFO:0003967|Orphanet:263413|ONCOTREE:ANGS|MedDRA:10002476|MESH:D006394|ICD10:C49.9|DOID:0001816|UMLS:C0018923|ICDO:9120/3|NCIT:C3088|SCTID:403977003 A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. MEDDRA:10002476|ORPHA:263413|UMLS:C0018923|DOID:0001816|NCIT:C3088|SNOMEDCT:403977003|MESH:D006394 http://purl.obolibrary.org/obo/MONDO_0016982 vascular sarcoma|malignant hemangioendothelioma|malignant angioendothelioma|hemangiosarcoma, malignant|angiosarcoma|hemangiosarcoma|blood vessel sarcoma|sarcoma of blood vessel ordo_disease MONDO:0016983 Bartter syndrome with hypocalcemia biolink:Disease mondo Orphanet:263417|UMLS:C3715128|ICD10:E26.8 Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) ORPHA:263417|UMLS:C3715128 http://purl.obolibrary.org/obo/MONDO_0016983 Bartter syndrome type V|Bartter syndrome type 5 ordo_clinical_subtype MONDO:0002329 testicular disease biolink:Disease mondo NCIT:C26890|DOID:2519|ICD9:608.89|MESH:D013733|SCTID:64910008|UMLS:C0039584 A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. MESH:D013733|DOID:2519|NCIT:C26890|SNOMEDCT:64910008|UMLS:C0039584 http://purl.obolibrary.org/obo/MONDO_0002329 testicular disease|disease of testis|disorder of testis|disease or disorder of testis|testicular disorder|testis disease|testis disorder|disorder of testis|testis disease or disorder MONDO:0014321 premature ovarian failure 8 biolink:Disease mondo UMLS:C3810367|OMIM:615723 Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene. UMLS:C3810367|http://identifiers.org/omim/615723 http://purl.obolibrary.org/obo/MONDO_0014321 POF8|premature ovarian failure 8; POF8|STAG3 primary ovarian failure|premature ovarian failure 8|premature ovarian failure type 8|primary ovarian failure caused by mutation in STAG3 MONDO:0014320 optic atrophy-intellectual disability syndrome biolink:Disease mondo Orphanet:401777|OMIM:615722|UMLS:C3810363|ICD10:H47.2 Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. UMLS:C3810363|http://identifiers.org/omim/615722|ORPHA:401777 http://purl.obolibrary.org/obo/MONDO_0014320 BOSCH-Boonstra-Schaaf optic atrophy syndrome|BBSOAS|BOSCH-Boonstra-Schaaf optic atrophy syndrome; BBSOAS ordo_disease HGNC:11164 SNRPN biolink:OntologyClass mondo http://identifiers.org/hgnc/11164 CHEBI:26708 sodium atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26708 sodium|11Na|Na|natrium|Natrium|sodio|sodium MONDO:0002347 barbiturate dependence biolink:Disease mondo DOID:2575|ICD9:304.11|ICD9:304.13|SCTID:231472009 A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. DOID:2575|SNOMEDCT:231472009 http://purl.obolibrary.org/obo/MONDO_0002347 CHEBI:26712 sodium molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26712 sodium compounds|sodium molecular entities HGNC:23159 ALG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/23159 MONDO:0002348 obsolete chondrodysplasia punctata biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002348 CHEBI:26714 sodium salt biolink:ChemicalSubstance mondo Any alkali metal salt having sodium(1+) as the cation. http://purl.obolibrary.org/obo/CHEBI_26714 sodium salts|Natriumsalz|Natriumsalze HGNC:23157 ALG6 biolink:OntologyClass mondo http://identifiers.org/hgnc/23157 MONDO:0002349 obsolete agammaglobulinemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002349 MONDO:0002343 splenic hemangioma biolink:Disease mondo DOID:256|UMLS:C0685201|SCTID:93472004|NCIT:C8541 A hemangioma arising from the spleen. DOID:256|UMLS:C0685201|SNOMEDCT:93472004|NCIT:C8541 http://purl.obolibrary.org/obo/MONDO_0002343 angioma of the spleen|hemangioma of the spleen|splenic hemangioma|splenic angioma|spleen angioma|spleen hemangioma|angioma of spleen|hemangioma of spleen MONDO:0002344 obsolete corneal dystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002344 CHEBI:26710 sodium chloride biolink:ChemicalSubstance mondo An inorganic chloride salt having sodium(1+) as the counterion. http://purl.obolibrary.org/obo/CHEBI_26710 Kochsalz|Natriumchlorid|rock salt|natrii chloridum|NaCl|sodium chloride|common salt|table salt|cloruro sodico|halite|salt|chlorure de sodium MONDO:0002345 cervicitis (disease) biolink:Disease mondo ICD9:616.0|MESH:D002575|HP:0030160|DOID:2568|ICD10:N72|SCTID:37610005|NCIT:C26716 An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge. DOID:2568|NCIT:C26716|MESH:D002575|SNOMEDCT:37610005 http://purl.obolibrary.org/obo/MONDO_0002345 cervicitis MONDO:0002346 obsolete malignant histiocytic disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002346 HGNC:23151 FERMT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/23151 MONDO:0002340 tactile epilepsy biolink:Disease mondo UMLS:C0393724|SCTID:230449001|NCIT:C4687|DOID:2550 NCIT:C4687|UMLS:C0393724|SNOMEDCT:230449001|DOID:2550 http://purl.obolibrary.org/obo/MONDO_0002340 GO:0048515 spermatid differentiation biolink:OntologyClass mondo The process whose specific outcome is the progression of a spermatid over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/GO_0048515 spermatid cell differentiation MONDO:0002341 granulomatous angiitis biolink:Disease mondo UMLS:C0018202|DOID:2555|NCIT:C34653 Inflammation of the arteries that is characterized by the presence of granulomas. NCIT:C34653|UMLS:C0018202|DOID:2555 http://purl.obolibrary.org/obo/MONDO_0002341 Granulomatous arteritis MONDO:0014309 obesity due to CEP19 deficiency biolink:Disease mondo Orphanet:397615|ICD10:E66.8|OMIM:615703|UMLS:C3810324 ORPHA:397615|http://identifiers.org/omim/615703|UMLS:C3810324 http://purl.obolibrary.org/obo/MONDO_0014309 morbid obesity and spermatogenic failure|MOSPGF|morbid obesity and spermatogenic failure; MOSPGF ordo_disease GO:0048514 blood vessel morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/GO_0048514 MONDO:0002342 chondromalacia biolink:Disease mondo ICD9:733.92|COHD:438531|UMLS:C0085700|DOID:2557|SCTID:63198006|ICD10:M94.20|ICD10:M94.2 Pathological processes involving the chondral tissue (cartilage). UMLS:C0085700|SNOMEDCT:63198006|DOID:2557 http://purl.obolibrary.org/obo/MONDO_0002342 MONDO:0014308 familial temporal lobe epilepsy 6 biolink:Disease mondo OMIM:615697|DOID:0060749|UMLS:C3810320 A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26. DOID:0060749|http://identifiers.org/omim/615697|UMLS:C3810320 http://purl.obolibrary.org/obo/MONDO_0014308 epilepsy, familial temporal lobe, 6|ETL6|epilepsy, familial temporal lobe, 6; ETL6|familial temporal lobe epilepsy type 6 GO:0048513 animal organ development biolink:OntologyClass mondo Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/GO_0048513 development of an organ|organogenesis GO:0048512 circadian behavior biolink:OntologyClass mondo The specific behavior of an organism that recurs with a regularity of approximately 24 hours. http://purl.obolibrary.org/obo/GO_0048512 circadian rhythm behavior GO:0048511 rhythmic process biolink:OntologyClass mondo Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. http://purl.obolibrary.org/obo/GO_0048511 rhythm MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome biolink:Disease mondo ICD10:Q87.5|OMIM:615709|UMLS:C3810343|Orphanet:397927 ORPHA:397927|UMLS:C3810343|http://identifiers.org/omim/615709 http://purl.obolibrary.org/obo/MONDO_0014314 SAVA|sacral agenesis with vertebral anomalies; SAVA|sacral agenesis with vertebral anomalies ordo_malformation_syndrome MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma biolink:Disease mondo ICD10:C37|Orphanet:263335|UMLS:CN202279 ORPHA:263335|UMLS:CN202279 http://purl.obolibrary.org/obo/MONDO_0016977 ordo_histopathological_subtype HGNC:35126 BHLHA9 biolink:OntologyClass mondo http://identifiers.org/hgnc/35126 NCBITaxon:1933264 California encephalitis orthobunyavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1933264 MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity biolink:Disease mondo OMIM:615707|Orphanet:437552|ICD10:D84.8|UMLS:C3810342 UMLS:C3810342|http://identifiers.org/omim/615707|ORPHA:437552 http://purl.obolibrary.org/obo/MONDO_0014313 IMD20|CD16 deficiency|immunodeficiency type 20|immunodeficiency 20|autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity|immunodeficiency 20; IMD20 ordo_disease MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma biolink:Disease mondo ICD10:C37|Orphanet:263339|UMLS:CN202280|SCTID:717921000 SNOMEDCT:717921000|ORPHA:263339|UMLS:CN202280 http://purl.obolibrary.org/obo/MONDO_0016978 ordo_histopathological_subtype MONDO:0016979 MRCS syndrome biolink:Disease mondo Orphanet:263347 MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. ORPHA:263347 http://purl.obolibrary.org/obo/MONDO_0016979 microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome ordo_disease MONDO:0014312 auriculocondylar syndrome 3 biolink:Disease mondo OMIM:615706|UMLS:C3810332 UMLS:C3810332|http://identifiers.org/omim/615706 http://purl.obolibrary.org/obo/MONDO_0014312 Auriculocondylar syndrome type 3|ARCND3|AURICULOCONDYLAR syndrome 3; ARCND3|Auriculocondylar syndrome 3 HGNC:11179 SOD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11179 MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 biolink:Disease mondo OMIM:615705|UMLS:C3810326|ICD10:G11.1|DOID:0080057|Orphanet:404499 Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene. ORPHA:404499|UMLS:C3810326|http://identifiers.org/omim/615705|DOID:0080057 http://purl.obolibrary.org/obo/MONDO_0014311 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency|RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|SCAR15|Salih ataxia|spinocerebellar ataxia, autosomal recessive type 15|RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|autosomal recessive spinocerebellar ataxia type 15|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency|spinocerebellar ataxia, autosomal recessive 15|spinocerebellar ataxia, autosomal recessive 15; SCAR15|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN ordo_disease MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 biolink:Disease mondo OMIM:615716|UMLS:C3810354 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene. UMLS:C3810354|http://identifiers.org/omim/615716 http://purl.obolibrary.org/obo/MONDO_0014318 hyperphosphatasia with intellectual disability syndrome type 4|hyperphosphatasia with mental retardation syndrome type 4|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3|HPMRS4|hyperphosphatasia with mental retardation syndrome 4; HPMRS4|hyperphosphatasia with intellectual disability syndrome 4; HPMRS4|hyperphosphatasia with mental retardation syndrome 4|PGAP3 hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 4|glycosylphosphatidylinositol biosynthesis defect 10 MONDO:0016973 obsolete thymoma type A biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016973 MONDO:0016974 thymoma type B biolink:Disease mondo NCIT:C7114|ICD10:C37|UMLS:C1328042|Orphanet:263317|DOID:3282|ICD10:D15.0|UMLS:CN202276 An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma. ORPHA:263317|UMLS:CN202276|UMLS:C1328042|DOID:3282|NCIT:C7114 http://purl.obolibrary.org/obo/MONDO_0016974 Dendritic cell thymoma|primary thymic epithelial tumor type B|epithelioid thymoma|dendritic cell thymoma|dendritic cell thymoma (disease)|primary thymic epithelial neoplasm type B|thymoma type B|plump cell thymoma ordo_histopathological_subtype MONDO:0014317 pancytopenia-developmental delay syndrome biolink:Disease mondo UMLS:C3810350|OMIM:615715|ICD10:D61.0|Orphanet:401764 http://identifiers.org/omim/615715|UMLS:C3810350|ORPHA:401764 http://purl.obolibrary.org/obo/MONDO_0014317 bone marrow failure syndrome 2|bone marrow failure syndrome type 2|bone marrow failure syndrome 2; BMFS2|BMFS2|Trilineage bone marrow failure-developmental delay syndrome ordo_disease GO:0048519 negative regulation of biological process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/GO_0048519 downregulation of biological process|negative regulation of physiological process|down regulation of biological process|inhibition of biological process|down-regulation of biological process MONDO:0016975 thymoma type AB biolink:Disease mondo ICD10:D15.0|ICDO:8582/1|DOID:3280|ICD10:C37|Orphanet:263324|NCIT:C6885|UMLS:C1266092|EFO:1000582 A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years. NCIT:C6885|ORPHA:263324|UMLS:C1266092|DOID:3280 http://purl.obolibrary.org/obo/MONDO_0016975 primary thymic epithelial neoplasm type AB|primary thymic epithelial tumor type AB|thymoma type AB|thymoma, mixed type|mixed type thymoma ordo_histopathological_subtype GO:0048518 positive regulation of biological process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/GO_0048518 positive regulation of physiological process|up-regulation of biological process|activation of biological process|upregulation of biological process|up regulation of biological process|stimulation of biological process MONDO:0014316 Alzheimer disease 19 biolink:Disease mondo UMLS:C3810349|OMIM:615711|DOID:0110051 Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene. DOID:0110051|http://identifiers.org/omim/615711|UMLS:C3810349 http://purl.obolibrary.org/obo/MONDO_0014316 Alzheimer disease 19|Alzheimer's disease type 19|Alzheimer disease caused by mutation in PLD3|Alzheimer disease type 19|Alzheimer disease 19, late-onset|Alzheimer disease 19; AD19|Alzheimer disease 19 late onset|AD19|Alzheimer's disease 19|PLD3 Alzheimer disease MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma biolink:Disease mondo ICD10:C37|SCTID:717922007|UMLS:CN202278|Orphanet:263331 SNOMEDCT:717922007|ORPHA:263331|UMLS:CN202278 http://purl.obolibrary.org/obo/MONDO_0016976 ordo_histopathological_subtype MONDO:0014315 Mitchell-Riley syndrome biolink:Disease mondo OMIM:615710 http://identifiers.org/omim/615710 http://purl.obolibrary.org/obo/MONDO_0014315 diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia|Mitchell-RILEY syndrome; MTCHRS|Mitchell-Riley syndrome|MTCHRS MONDO:0016970 partial trisomy of the long arm of chromosome 20 biolink:Disease mondo Orphanet:262995 ORPHA:262995 http://purl.obolibrary.org/obo/MONDO_0016970 partial duplication of chromosome 20q|partial trisomy of the long arm of chromosome type 20|partial duplication of the long arm of chromosome 20|partial trisomy of chromosome 20q ordo_group_of_disorders MONDO:0016971 limb-girdle muscular dystrophy biolink:Disease mondo UMLS:C0270950|Orphanet:263|NCIT:C84828|UMLS:C0686353|GARD:0006907|SCTID:78468005|MESH:D049288|ICD10:G71.0|DOID:11724 Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD. DOID:11724|NCIT:C84828|ORPHA:263|SNOMEDCT:78468005|UMLS:C0686353|UMLS:C0270950|MESH:D049288 http://purl.obolibrary.org/obo/MONDO_0016971 erb's muscular dystrophy|Leyden-Mbius muscular dystrophy|LGMD|Leyden-Mobius muscular dystrophy|limb girdle muscular dystrophy ordo_group_of_disorders|gard_rare MONDO:0016972 partial duplication of the long arm of chromosome 22 biolink:Disease mondo Orphanet:263004 ORPHA:263004 http://purl.obolibrary.org/obo/MONDO_0016972 partial duplication of chromosome 22q|partial trisomy of the long arm of chromosome 22|partial duplication of the long arm of chromosome type 22|partial trisomy of chromosome 22q ordo_group_of_disorders MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement biolink:Disease mondo ICD10:Q82.8|OMIM:615704|UMLS:C3810325|Orphanet:221043|GARD:0013218 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. ORPHA:221043|http://identifiers.org/omim/615704|UMLS:C3810325 http://purl.obolibrary.org/obo/MONDO_0014310 POIKTMP syndrome|hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement|poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis; POIKTMP|poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis|hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome|POIKTMP ordo_disease MONDO:0004977 angioimmunoblastic T-cell lymphoma biolink:Disease mondo ICD10:C86.5|EFO:0000255|UMLS:C0020981|Orphanet:86886|MEDDRA:10002449|ICDO:9767/1|ONCOTREE:AITL|GARD:11973|DOID:0111147|ICD9:202.70|MedDRA:10002449|NCIT:C7528|MESH:D007119|SCTID:413537009|GARD:0011973|ICDO:9705/3 A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive. ORPHA:86886|DOID:0111147|MESH:D007119|NCIT:C7528|MEDDRA:10002449|SNOMEDCT:413537009|UMLS:C0020981 http://purl.obolibrary.org/obo/MONDO_0004977 AILT|angioimmunoblastic T-cell lymphoma|AITL|immunoblastic lymphadenopathy|lymphogranulomatosis X|AILD|angioimmunoblastic lymphadenopathy|T-cell lymphoma, AILD type|angioimmunoblastic lymphadenopathy with Dysproteinemia|angioimmunoblastic lymphadenopathy type T-cell lymphoma gard_rare|ordo_disease MONDO:0002314 chronic conjunctivitis biolink:Disease mondo COHD:374036|DOID:2475|ICD9:372.10|ICD10:H10.4|SCTID:73762008|ICD9:372.1|UMLS:C0155145|NCIT:C35197|ICD10:H10.40 Conjunctivitis that is persistent and long-standing. UMLS:C0155145|DOID:2475|SNOMEDCT:73762008|NCIT:C35197 http://purl.obolibrary.org/obo/MONDO_0002314 conjunctivitis (disease), chronic|chronic conjunctivitis|chronic conjunctivitis, unspecified|chronic conjunctivitis (disease) MONDO:0004976 amyotrophic lateral sclerosis biolink:Disease mondo ICD9:335.20|Orphanet:803|NCIT:C34373|ICD10:G12.21|UMLS:C0002736|NIFSTD:birnlex_12566|EFO:0000253|DOID:332|MESH:D000690|COHD:373182|OMIMPS:105400|KEGG:05014|SCTID:86044005|MedDRA:10002026|ICD10:G12.2|GARD:0005786 Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. MESH:D000690|ORPHA:803|MEDDRA:10002026|SNOMEDCT:86044005|UMLS:C0002736|DOID:332|NCIT:C34373 http://purl.obolibrary.org/obo/MONDO_0004976 Lou Gehrig's disease|Lou Gehrig disease|Charcot disease|ALS|motor neuron disease, bulbar ordo_disease NCBITaxon:10232 Acanthocephala organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10232 thorny-headed worms|thorny-headed worms|Acanthocephala|acanthocephalans|spiny-headed worms MONDO:0002315 obsolete hereditary spastic paraplegia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002315 MONDO:0002316 motor peripheral neuropathy biolink:Disease mondo DOID:2477|ICD9:356.9|SCTID:95663000|ICD10:G60.0|NCIT:C3500 Inflammation or degeneration of the peripheral motor nerves. DOID:2477|SNOMEDCT:95663000|NCIT:C3500 http://purl.obolibrary.org/obo/MONDO_0002316 HSMN|HSMN - hereditary sensory and motor neuropathy|peripheral motor neuropathy|hereditary motor and sensory neuropathy|neuropathic muscular atrophy MONDO:0004979 asthma biolink:Disease mondo GARD:0010246|DOID:2841|EFO:0000270|KEGG:05310|ICD9:493|COHD:317009|ICD10:J45|NCIT:C28397|ICD10:J45.909|ICD9:493.9|UMLS:C0004096|ICD10:J45.90|HP:0002099|MESH:D001249|ICD9:493.81|SCTID:31387002 A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. NCIT:C28397|DOID:2841|UMLS:C0004096|SNOMEDCT:31387002|MESH:D001249 http://purl.obolibrary.org/obo/MONDO_0004979 chronic obstructive asthma|chronic obstructive asthma with acute exacerbation|chronic obstructive asthma with status asthmaticus|bronchial hyperreactivity|exercise induced asthma|exercise-induced asthma MONDO:0004978 aortic stenosis biolink:Disease mondo EFO:0000266|ICD9:395.0|ICD9:746.3|DOID:1712|ICD10:Q23.0|ICD10:I06.0|UMLS:C0155567 In the same amount or manner; to the same degree; in the role, function, or capacity of. NCIT:C64938|NCIT:C50462|UMLS:C0155567|DOID:1712 http://purl.obolibrary.org/obo/MONDO_0004978 aortic valve stenosis|congenital aortic valve stenosis|rheumatic aortic valve stenosis|rheumatic aortic stenosis|AS|aortic stenosis MONDO:0002317 central nervous system origin vertigo biolink:Disease mondo COHD:381035|DOID:2479|UMLS:C0155503|SCTID:38403006|ICD10:H81.4|ICD10:H81.49|ICD9:386.2 An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1) DOID:2479|UMLS:C0155503|SNOMEDCT:38403006 http://purl.obolibrary.org/obo/MONDO_0002317 vertigo of central origin|central vestibular vertigo HGNC:25786 REEP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25786 MONDO:0002310 anterior dislocation of lens biolink:Disease mondo UMLS:C0155372|ICD9:379.33|DOID:2460|COHD:374956|SCTID:37283009|ICD10:H27.12 SNOMEDCT:37283009|DOID:2460|UMLS:C0155372 http://purl.obolibrary.org/obo/MONDO_0002310 MONDO:0004973 adenosquamous lung carcinoma biolink:Disease mondo DOID:4829|SCTID:707405009|UMLS:C0279557|NCIT:C9133|ICD9:162.9|ONCOTREE:LUAS|EFO:0000233 An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells. SNOMEDCT:707405009|DOID:4829|NCIT:C9133|UMLS:C0279557 http://purl.obolibrary.org/obo/MONDO_0004973 adenosquamous cell lung carcinoma|adenosquamous lung carcinoma|adenosquamous lung cancer|lung adenosquamous carcinoma MONDO:0002311 retinal vascular disease biolink:Disease mondo UMLS:C0154833|COHD:434337|DOID:2462|ICD9:362.13|NCIT:C35170|SCTID:57534004 Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. SNOMEDCT:57534004|DOID:2462|UMLS:C0154833|NCIT:C35170 http://purl.obolibrary.org/obo/MONDO_0002311 retinal vascular disorder|retina circulation disorder MONDO:0004972 adenoma biolink:Disease mondo MESH:D000236|ICDO:8140/0|UMLS:C0001430|SCTID:443416007|DOID:657|NCIT:C2855|EFO:0000232 A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. SNOMEDCT:443416007|NCIT:C2855|MESH:D000236|UMLS:C0001430|DOID:657 http://purl.obolibrary.org/obo/MONDO_0004972 adenomas|adenoma|adenoma, benign|acinic cell adenoma|acinar cell adenoma (morphologic abnormality)|acinar cell adenoma MONDO:0004975 Alzheimer disease biolink:Disease mondo ICD9:331.0|ICD10:G30|HP:0002511|NCIT:C2866|ICD9:290.1|MESH:D000544|DOID:10652|EFO:0000249|KEGG:05010|COHD:378419|NIFSTD:birnlex_2092|UMLS:C0002395|SCTID:142811000119104|GARD:0000632|ICD10:G30.9 A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. DOID:10652|NCIT:C38778|SNOMEDCT:142811000119104|UMLS:C0002395|NCIT:C2866|MESH:D000544 http://purl.obolibrary.org/obo/MONDO_0004975 Alzheimer dementia|Alzheimers dementia|Alzheimer disease, familial|Alzheimer's disease|Alzheimer disease|Alzheimers disease|Alzheimer's dementia|AD MONDO:0002312 opportunistic mycosis biolink:Disease mondo COHD:432248|DOID:2473|UMLS:C0029119|ICD9:118|ICD9:117.9|SCTID:78999002 A mycosis that arises from infection in an immunologically compromised host. DOID:2473|UMLS:C0029119|SNOMEDCT:78999002 http://purl.obolibrary.org/obo/MONDO_0002312 opportunistic systemic mycoses|opportunistic mycoses MONDO:0002313 vernal conjunctivitis biolink:Disease mondo ICD9:372.13|NCIT:C34508|DOID:2474|UMLS:C0009773|SCTID:318316003|ICD10:H10.44|COHD:377559 Inflammation of the cornea that is seasonal in nature. UMLS:C0009773|NCIT:C34508|DOID:2474|SNOMEDCT:318316003 http://purl.obolibrary.org/obo/MONDO_0002313 MONDO:0004974 adrenal gland pheochromocytoma biolink:Disease mondo ICDO:8700/0|DOID:0050892|EFO:0000239|NCIT:C3326 A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. DOID:0050892|NCIT:C3326 http://purl.obolibrary.org/obo/MONDO_0004974 adrenal medullary pheochromocytoma|adrenal gland chromaffin paraganglioma|pheochromocytoma (adrenal)|Intraadrenal paraganglioma|adrenal pheochromocytoma|adrenal gland paraganglioma|adrenal gland pheochromocytoma|adrenal medullary paraganglioma|PCC|chromaffin paraganglioma of the adrenal gland|adrenal gland Chromaffinoma|pheochromocytoma NCBITaxon:10239 Viruses organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10239 viruses|Vira|Viridae HGNC:25781 ARMC5 biolink:OntologyClass mondo http://identifiers.org/hgnc/25781 MONDO:0004971 adenoid cystic carcinoma biolink:Disease mondo GARD:0005743|ICDO:8200/3|MESH:D003528|ONCOTREE:ACYC|UMLS:C0010606|NCIT:C2970|DOID:0080202|EFO:0000231 A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. UMLS:C0010606|MESH:D003528|DOID:0080202|NCIT:C2970 http://purl.obolibrary.org/obo/MONDO_0004971 cribriform carcinoma|adenoid cystic carcinoma|adenocystic carcinoma|adenoid cystic cancer|cylindroid adenocarcinoma|cylindroma gard_rare MONDO:0004970 adenocarcinoma biolink:Disease mondo SCTID:443961001|CSP:2000-0386|UMLS:C0001418|ONCOTREE:ADNOS|EFO:0000228|DOID:299|ICDO:8140/3|MESH:D000230|NCIT:C2852 A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. SNOMEDCT:443961001|NCIT:C2852|DOID:299|MESH:D000230|UMLS:C0001418 http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinomas|adenocarcinoma, NOS|adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma, malignant|adenocarcinoma, no subtype (morphologic abnormality)|adenocarcinoma|ADNOS MONDO:0016959 partial duplication of the long arm of chromosome 8 biolink:Disease mondo Orphanet:262896 ORPHA:262896 http://purl.obolibrary.org/obo/MONDO_0016959 partial duplication of chromosome 8q|partial duplication of the long arm of chromosome type 8|partial trisomy of chromosome 8q|partial trisomy of the long arm of chromosome 8 ordo_group_of_disorders GO:0048523 negative regulation of cellular process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0048523 downregulation of cellular process|down regulation of cellular process|inhibition of cellular process|negative regulation of cellular physiological process|down-regulation of cellular process GO:0048522 positive regulation of cellular process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0048522 up regulation of cellular process|stimulation of cellular process|activation of cellular process|up-regulation of cellular process|upregulation of cellular process|positive regulation of cellular physiological process HGNC:25784 DCAF17 biolink:OntologyClass mondo http://identifiers.org/hgnc/25784 GO:0048521 negative regulation of behavior biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. http://purl.obolibrary.org/obo/GO_0048521 inhibition of behavior|down-regulation of behavior|downregulation of behavior|down regulation of behavior GO:0048520 positive regulation of behavior biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. http://purl.obolibrary.org/obo/GO_0048520 upregulation of behavior|up regulation of behavior|stimulation of behavior|up-regulation of behavior|activation of behavior MONDO:0014303 hereditary spastic paraplegia 64 biolink:Disease mondo SCTID:726609005|Orphanet:401810|UMLS:C3810289|ICD10:G11.4|UMLS:C4511960|OMIM:615683|DOID:0110815 An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. DOID:0110815|UMLS:C4511960|UMLS:C3810289|http://identifiers.org/omim/615683|ORPHA:401810|SNOMEDCT:726609005 http://purl.obolibrary.org/obo/MONDO_0014303 spastic paraplegia 64, autosomal recessive|spastic paraplegia 64, autosomal recessive; SPG64|hereditary spastic paraplegia type 64|autosomal recessive spastic paraplegia type 64|SPG64|autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1|ENTPD1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 64 ordo_disease MONDO:0016966 partial trisomy of the long arm of chromosome 16 biolink:Disease mondo GARD:0005316|UMLS:CN036363|Orphanet:262959|MESH:C538042 UMLS:CN036363|MESH:C538042|ORPHA:262959 http://purl.obolibrary.org/obo/MONDO_0016966 partial duplication of chromosome 16q|chromosome 16q duplication|partial trisomy 16q|16q trisomy|trisomy 16q|partial duplication of the long arm of chromosome 16|partial trisomy of the long arm of chromosome type 16|16q duplication|Duplication 16q|partial trisomy of chromosome 16q gard_rare|ordo_group_of_disorders MONDO:0016967 partial duplication of the long arm of chromosome 17 biolink:Disease mondo UMLS:CN035860|Orphanet:262968|GARD:0005320 UMLS:CN035860|ORPHA:262968 http://purl.obolibrary.org/obo/MONDO_0016967 chromosome 17q duplication|partial trisomy 17q|trisomy 17q|17q trisomy|partial duplication of chromosome 17q|Duplication 17q|17q duplication|partial duplication of the long arm of chromosome type 17|partial trisomy of the long arm of chromosome 17|partial trisomy of chromosome 17q ordo_group_of_disorders|gard_rare MONDO:0014302 hereditary spastic paraplegia 62 biolink:Disease mondo OMIM:615681|UMLS:C4284588|SCTID:765045003|Orphanet:401785|ICD10:G11.4|DOID:0110813 Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. UMLS:C4284588|DOID:0110813|SNOMEDCT:765045003|http://identifiers.org/omim/615681|ORPHA:401785 http://purl.obolibrary.org/obo/MONDO_0014302 SPG62|spastic paraplegia 62, autosomal recessive|spastic paraplegia 62, autosomal recessive; SPG62|ERLIN1 autosomal recessive pure spastic paraplegia|hereditary spastic paraplegia type 62|autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1|autosomal recessive spastic paraplegia type 62|autosomal recessive spastic paraplegia 62 ordo_disease MONDO:0016968 partial trisomy of the long arm of chromosome 18 biolink:Disease mondo UMLS:C0809935|GARD:0005324|Orphanet:262977|MESH:C538308 UMLS:C0809935|MESH:C538308|ORPHA:262977 http://purl.obolibrary.org/obo/MONDO_0016968 partial duplication of chromosome 18q|chromosome 18q duplication|partial duplication of the long arm of chromosome 18|partial trisomy of the long arm of chromosome type 18|18q partial trisomy|trisomy 18q|18q trisomy|partial trisomy of chromosome 18q|Duplication 18q|18q duplication ordo_group_of_disorders|gard_rare MONDO:0014301 DDD3 biolink:Disease mondo OMIM:615674|UMLS:C3810286 http://identifiers.org/omim/615674|UMLS:C3810286 http://purl.obolibrary.org/obo/MONDO_0014301 Dowling-Degos disease 3; DDD3|DDD3|Dowling-Degos disease 3 MONDO:0016969 partial duplication of the long arm of chromosome 19 biolink:Disease mondo GARD:0005326|MESH:C538311|Orphanet:262986|UMLS:C0795871 UMLS:C0795871|ORPHA:262986|MESH:C538311 http://purl.obolibrary.org/obo/MONDO_0016969 19q duplication|Duplication 19q|partial duplication of chromosome 19q|partial duplication of the long arm of chromosome type 19|chromosome 19q duplication|partial trisomy of the long arm of chromosome 19|partial trisomy 19q|19q trisomy|trisomy 19q|partial trisomy of chromosome 19q ordo_group_of_disorders|gard_rare MONDO:0014300 proximal myopathy with extrapyramidal signs biolink:Disease mondo UMLS:C3810285|ICD10:G71.3|Orphanet:401768|GARD:0012978|OMIM:615673 Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. http://identifiers.org/omim/615673|UMLS:C3810285|ORPHA:401768 http://purl.obolibrary.org/obo/MONDO_0014300 MPXPS|myopathy with extrapyramidal signs; MPXPS|myopathy with extrapyramidal signs ordo_disease MONDO:0016962 partial duplication of the long arm of chromosome 11 biolink:Disease mondo Orphanet:262923|GARD:0001923 ORPHA:262923 http://purl.obolibrary.org/obo/MONDO_0016962 partial duplication of the long arm of chromosome type 11|partial trisomy of chromosome 11q|chromosome 11q duplication|partial trisomy 11q|11q trisomy|trisomy 11q|partial duplication of chromosome 11q|Duplication 11q|11q duplication|partial trisomy of the long arm of chromosome 11 ordo_group_of_disorders MONDO:0014307 Dowling-Degos disease 4 biolink:Disease mondo UMLS:C3810313|OMIM:615696 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene. http://identifiers.org/omim/615696|UMLS:C3810313 http://purl.obolibrary.org/obo/MONDO_0014307 Dowling-Degos disease 4; DDD4|Dowling-Degos disease caused by mutation in POGLUT1|Dowling-Degos disease 4|Dowling-Degos disease type 4|POGLUT1 Dowling-Degos disease|DDD4 MONDO:0014306 vasculitis due to ADA2 deficiency biolink:Disease mondo ICD10:M30.8|Orphanet:404553|GARD:0012383|OMIM:615688 Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. ORPHA:404553|http://identifiers.org/omim/615688 http://purl.obolibrary.org/obo/MONDO_0014306 childhood-onset polyarteritis nodosa|Ada2 deficiency|DADA2|vasculitis due to DADA2|polyarteritis nodosa, childhood-onset|polyarteritis nodosa, childhood-onset; PAN|adenosine deaminase 2 deficiency|PAN ordo_disease MONDO:0016963 partial duplication of the long arm of chromosome 13 biolink:Disease mondo GARD:0001929|Orphanet:262932 Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13. ORPHA:262932 http://purl.obolibrary.org/obo/MONDO_0016963 trisomy 13q|13q trisomy|13q duplication|Duplication 13q|partial trisomy of chromosome 13q|partial duplication of chromosome 13q|partial trisomy of the long arm of chromosome 13|chromosome 13q duplication|partial duplication of the long arm of chromosome type 13|partial trisomy 13q ordo_group_of_disorders|gard_rare MONDO:0014305 hereditary spastic paraplegia 63 biolink:Disease mondo DOID:0110814|ICD10:G11.4|OMIM:615686|UMLS:C3810295|SCTID:726610000|Orphanet:401805 An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. SNOMEDCT:726610000|DOID:0110814|UMLS:C3810295|http://identifiers.org/omim/615686|ORPHA:401805 http://purl.obolibrary.org/obo/MONDO_0014305 autosomal recessive spastic paraplegia 63|spastic paraplegia 63|autosomal recessive complex spastic paraplegia caused by mutation in AMPD2|spastic paraplegia 63, autosomal recessive|autosomal recessive spastic paraplegia type 63|hereditary spastic paraplegia type 63|SPG63|spastic paraplegia 63, autosomal recessive; SPG63|AMPD2 autosomal recessive complex spastic paraplegia ordo_disease MONDO:0016964 partial duplication of the long arm of chromosome 14 biolink:Disease mondo GARD:0005311|Orphanet:262941 ORPHA:262941 http://purl.obolibrary.org/obo/MONDO_0016964 14q trisomy|trisomy 14q|partial trisomy of chromosome 14q|Duplication 14q|14q duplication|partial trisomy of the long arm of chromosome 14|partial duplication of chromosome 14q|partial duplication of the long arm of chromosome type 14|chromosome 14q duplication|partial trisomy 14q ordo_group_of_disorders|gard_rare MONDO:0014304 hereditary spastic paraplegia 61 biolink:Disease mondo DOID:0110812|Orphanet:401780|UMLS:C4511962|ICD10:G11.4|UMLS:C3810294|SCTID:726611001|OMIM:615685 A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. SNOMEDCT:726611001|DOID:0110812|UMLS:C4511962|UMLS:C3810294|http://identifiers.org/omim/615685|ORPHA:401780 http://purl.obolibrary.org/obo/MONDO_0014304 autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1|spastic paraplegia 61, autosomal recessive|SPG61|autosomal recessive spastic paraplegia type 61|hereditary spastic paraplegia type 61|ARL6IP1 autosomal recessive complex spastic paraplegia|spastic paraplegia 61, autosomal recessive; SPG61|autosomal recessive spastic paraplegia 61 ordo_disease MONDO:0016965 partial duplication of the long arm of chromosome 15 biolink:Disease mondo GARD:0005314|UMLS:C0795858|Orphanet:262950|MESH:C538040 Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. MESH:C538040|ORPHA:262950|UMLS:C0795858 http://purl.obolibrary.org/obo/MONDO_0016965 chromosome 15q duplication|partial trisomy 15q|partial trisomy of chromosome 15q|15q trisomy|trisomy 15q|partial trisomy of the long arm of chromosome 15|partial duplication of the long arm of chromosome type 15|partial duplication of chromosome 15q|Duplication 15q|15q duplication ordo_group_of_disorders|gard_rare HGNC:11140 SNCB biolink:OntologyClass mondo http://identifiers.org/hgnc/11140 MONDO:0016960 partial trisomy of the long arm of chromosome 9 biolink:Disease mondo Orphanet:262905 ORPHA:262905 http://purl.obolibrary.org/obo/MONDO_0016960 partial duplication of the long arm of chromosome 9|partial duplication of chromosome 9q|partial trisomy of chromosome 9q|partial trisomy of the long arm of chromosome type 9 ordo_group_of_disorders MONDO:0016961 partial duplication of the long arm of chromosome 10 biolink:Disease mondo Orphanet:262914 ORPHA:262914 http://purl.obolibrary.org/obo/MONDO_0016961 partial trisomy of the long arm of chromosome 10|partial trisomy of chromosome 10q|partial duplication of chromosome 10q ordo_group_of_disorders MONDO:0041959 fibrosis of bile duct biolink:Disease mondo UMLS:C0520571|SCTID:48124008 UMLS:C0520571|SNOMEDCT:48124008 http://purl.obolibrary.org/obo/MONDO_0041959 biliary sclerosis|biliary duct fibrosis|fibrosis of bile duct MONDO:0002307 blepharoconjunctivitis biolink:Disease mondo COHD:374347|ICD9:372.2|DOID:2456|ICD10:H10.5|ICD10:H10.50|UMLS:C0005743|NCIT:C34430|ICD9:372.20|SCTID:68659002 Inflammation of both the eyelids and the conjunctiva. NCIT:C34430|SNOMEDCT:68659002|DOID:2456|UMLS:C0005743 http://purl.obolibrary.org/obo/MONDO_0002307 MONDO:0004969 acute quadriplegic myopathy biolink:Disease mondo EFO:0000225 Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM. http://purl.obolibrary.org/obo/MONDO_0004969 MONDO:0002308 giant papillary conjunctivitis biolink:Disease mondo NCIT:C34507|DOID:2457|SCTID:231857004|UMLS:C0009769|ICD9:372.39|GARD:0008445 Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva. UMLS:C0009769|NCIT:C34507|DOID:2457|SNOMEDCT:231857004 http://purl.obolibrary.org/obo/MONDO_0002308 GPC gard_rare MONDO:0002309 papillary conjunctivitis biolink:Disease mondo NCIT:C35616|DOID:2458|SCTID:416878008|ICD9:372.39|UMLS:C0854165 Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva. NCIT:C35616|SNOMEDCT:416878008|UMLS:C0854165|DOID:2458 http://purl.obolibrary.org/obo/MONDO_0002309 HGNC:11142 SIK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11142 MONDO:0002325 tooth erosion, non-bacterial biolink:Disease mondo DOID:2498|ICD9:521.3|ICD10:K03.2|SCTID:82212003|ICD9:521.35|MESH:D014077|ICD9:521.34|ICD9:521.30|UMLS:C0040436 Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296) UMLS:C0040436|SNOMEDCT:82212003|DOID:2498|MESH:D014077 http://purl.obolibrary.org/obo/MONDO_0002325 tooth erosion|localized erosion|generalized erosion MONDO:0004988 breast adenocarcinoma biolink:Disease mondo DOID:3458|NCIT:C5214|EFO:0000304 A carcinoma that arises from glandular epithelial cells of the breast DOID:3458|NCIT:C5214 http://purl.obolibrary.org/obo/MONDO_0004988 adenocarcinoma of breast|adenocarcinoma of the breast|mammary adenocarcinoma|breast adenocarcinoma NCBITaxon:10242 Orthopoxvirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10242 MONDO:0004987 urinary bladder neoplasm biolink:Disease mondo UMLS:C0005695|NCIT:C2901|EFO:0000294|COHD:200680|SCTID:126885006|ICD9:239.4 A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003 UMLS:C0005695|NCIT:C2901|SNOMEDCT:126885006 http://purl.obolibrary.org/obo/MONDO_0004987 urinary bladder neoplasm|tumor of the bladder|tumor of bladder|tumor of urinary bladder|bladder neoplasm|neoplasm of the urinary bladder|urinary bladder tumors|urinary bladder neoplasms|urinary bladder neoplasm (disease)|neoplasm of the bladder|neoplasm of bladder|tumor of the urinary bladder|bladder tumor|neoplasm of urinary bladder|urinary bladder tumor|bladder tumors NCBITaxon:10243 Cowpox virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10243 CPXV MONDO:0002326 alcohol-induced mental disorder biolink:Disease mondo ICD9:291.89|DOID:251|ICD9:291.8 DOID:251 http://purl.obolibrary.org/obo/MONDO_0002326 HGNC:25799 GUF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25799 UBERON:0013581 metapodium bone 1 biolink:AnatomicalEntity mondo A metapodium bone that is part of a digit 1 plus metapodial segment. http://purl.obolibrary.org/obo/UBERON_0013581 metapodium I|metapodium 1 NCBITaxon:10244 Monkeypox virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10244 monkey pox virus MONDO:0002327 intracranial cavernous angioma biolink:Disease mondo SCTID:445513004|NCIT:C5432|UMLS:C1334237|DOID:2516 A cavernous hemangioma arising from the brain and meninges. SNOMEDCT:445513004|DOID:2516|NCIT:C5432|UMLS:C1334237 http://purl.obolibrary.org/obo/MONDO_0002327 intracranial cavernous angioma|intracranial cavernoma|intracranial cavernous hemangioma MONDO:0004989 breast carcinoma biolink:Disease mondo DOID:3459|EFO:0000305|NCIT:C4872|UMLS:C0678222|SCTID:254838004 A carcinoma that arises from epithelial cells of the breast DOID:3459|UMLS:C0678222|SNOMEDCT:254838004|NCIT:C4872 http://purl.obolibrary.org/obo/MONDO_0004989 mammary carcinoma|carcinoma of the breast|breast carcinoma|breast cancer, NOS|cancer of breast|cancer of the breast|carcinoma of breast|breast cancer|cancer, breast MONDO:0002328 intracranial hemangioma biolink:Disease mondo COHD:441246|ICD9:228.02|ICD10:D18.02|UMLS:C0154050|SCTID:93468003|DOID:2517|NCIT:C3633 A hemangioma arising from the brain and meninges. SNOMEDCT:93468003|DOID:2517|UMLS:C0154050|NCIT:C3633 http://purl.obolibrary.org/obo/MONDO_0002328 hemangioma of intracranial structure|intracranial hemangioma|hemangioma of the intracranial structure|angioma of the intracranial structure|hemangioma of intracranial structures|hemangioma of brain|intracranial structure hemangioma|angioma of intracranial structure|intracranial angioma|brain hemangioma NCBITaxon:10245 Vaccinia virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10245 vaccinia virus VV MONDO:0002321 sensory peripheral neuropathy biolink:Disease mondo DOID:2491|UMLS:C0151313|ICD9:356.2|NCIT:C3501|SCTID:95662005|ICD9:356.9 Inflammation or degeneration of the sensory nerves. DOID:2491|NCIT:C3501|SNOMEDCT:95662005|UMLS:C0151313 http://purl.obolibrary.org/obo/MONDO_0002321 sensory neuropathy|peripheral sensory neuropathy|sensory nerve peripheral neuropathy|peripheral neuropathy of sensory nerve MONDO:0004984 basal-like breast carcinoma biolink:Disease mondo NCIT:C53558|EFO:0000281|UMLS:C3642347 A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis. UMLS:C3642347|NCIT:C53558 http://purl.obolibrary.org/obo/MONDO_0004984 basal-like breast cancer|basal-like breast carcinoma|basal-like subtype of breast carcinoma HP:0200000 Dysharmonic bone age biolink:PhenotypicFeature mondo UMLS:C4020918 Different levels of maturation of different bones. http://purl.obolibrary.org/obo/HP_0200000 Dysharmonic skeletal maturation MONDO:0002322 angiodysplasia biolink:Disease mondo ICD9:537.83|DOID:2494|UMLS:C0085411|MESH:D016888|SCTID:90858003 Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia. SNOMEDCT:90858003|DOID:2494|MESH:D016888|UMLS:C0085411 http://purl.obolibrary.org/obo/MONDO_0002322 angiodysplasia of stomach and duodenum with hemorrhage MONDO:0004983 azoospermia biolink:Disease mondo UMLS:C0004509|MESH:D053713|OMIMPS:258150|ICD10:N46.0|COHD:4143116|ICD10:N46.01|DOID:14227|EFO:0000279|ICD9:606.0|SCTID:425558002 Complete absence of spermatozoa in the semen. MESH:D053713|SNOMEDCT:425558002|UMLS:C0004509|NCIT:C80076|DOID:14227 http://purl.obolibrary.org/obo/MONDO_0004983 spermatogenic failure MONDO:0004986 urinary bladder carcinoma biolink:Disease mondo HP:0002862|NCIT:C4912|SCTID:255108000|UMLS:C0699885|EFO:0000292|DOID:4007 A carcinoma that arises from epithelial cells of the urinary bladder NCIT:C4912|DOID:4007|SNOMEDCT:255108000|UMLS:C0699885 http://purl.obolibrary.org/obo/MONDO_0004986 urinary bladder cancer|carcinoma bladder|carcinoma of urinary bladder|cancer of the urinary bladder|cancer of urinary bladder|bladder carcinoma|carcinoma of the urinary bladder|cancer of the bladder|bladder cancer|urinary bladder carcinoma|cancer of bladder|carcinoma of the bladder|carcinoma of bladder MONDO:0002323 cherry hemangioma biolink:Disease mondo DOID:2495|SCTID:5050001|NCIT:C4390|UMLS:C0343082 A capillary hemangioma of the skin, presenting as a red papular lesion. DOID:2495|NCIT:C4390|SNOMEDCT:5050001|UMLS:C0343082 http://purl.obolibrary.org/obo/MONDO_0002323 cherry hemangioma|Senile angioma|Senile hemangioma|Senile naevus of skin|cherry angioma MONDO:0004985 bipolar disorder biolink:Disease mondo NCIT:C34423|NIFSTD:birnlex_12754|ICD10:F31.9|COHD:436665|SCTID:13746004|UMLS:C0005586|ICD9:296.89|EFO:0000289|DOID:3312|ICD9:296.40|ICD9:296.80|MESH:D001714|ICD9:296.60|ICD10:F31|DC:0000264 A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. UMLS:C0005586|SNOMEDCT:13746004|MESH:D001714|NCIT:C34423|DOID:3312 http://purl.obolibrary.org/obo/MONDO_0004985 MAFD|bipolar depression|manic-depressive illness|major affective disorder|manic depressive disorder|major bipolar affective disorder|manic-depression|manic depressive disorder|manic depression|bipolar disorder manic phase|manic bipolar affective disorder|manic-depressive psychosis|bipolar affective disorder|mixed bipolar disorder|bipolar disorder|depressive-manic psych.|manic disorder|manic bipolar I disorder MONDO:0002324 obsolete enamel erosion biolink:Disease mondo ICD9:521.31|DOID:2497 DOID:2497 http://purl.obolibrary.org/obo/MONDO_0002324 MONDO:0004980 atopic eczema biolink:Disease mondo OMIMPS:603165|ICD10:L20|ICD10:L20.9|ICD9:691|NCIT:C3001|EFO:0000274|DOID:3310|ICD10:L20.81|ICD9:691.8 A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. NCIT:C3001|DOID:3310 http://purl.obolibrary.org/obo/MONDO_0004980 eczematous dermatitis|eczema|Atopic dermatitis|allergic form of dermatitis|eczema|Besnier's prurigo|allergic dermatitis|allergic|atopic eczema|Atopic neurodermatitis HGNC:25792 USB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25792 MONDO:0004982 pancreatitis biolink:Disease mondo DOID:4989|EFO:0000278|SCTID:75694006|ICD10:K85.9|UMLS:C0030305|NCIT:C3306|MESH:D010195 Inflammation of the pancreas. NCIT:C3306|UMLS:C0030305|SNOMEDCT:75694006|DOID:4989|MESH:D010195 http://purl.obolibrary.org/obo/MONDO_0004982 pancreas inflammation|inflammation of pancreas MONDO:0004981 atrial fibrillation (disease) biolink:Disease mondo SCTID:49436004|HP:0005110|ICD10:I48|UMLS:C0004238|DOID:0060224|ICD9:427.31|COHD:313217|EFO:0000275|NCIT:C50466 A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) DOID:0060224|UMLS:C0004238|SNOMEDCT:49436004|NCIT:C50466 http://purl.obolibrary.org/obo/MONDO_0004981 atrial fibrillation|AFib|A-fib|AF MONDO:0002320 congenital nervous system disorder biolink:Disease mondo DOID:2490|ICD9:742|NCIT:C97172 An abnormality of the nervous system that is present at birth or detected in the neonatal period. DOID:2490|NCIT:C97172 http://purl.obolibrary.org/obo/MONDO_0002320 congenital abnormality of the nervous system|congenital neurologic anomaly|congenital nervous system disorder GO:0048534 hematopoietic or lymphoid organ development biolink:OntologyClass mondo The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. http://purl.obolibrary.org/obo/GO_0048534 haemopoietic or lymphoid organ development|hemopoietic or lymphoid organ development|haematopoietic or lymphoid organ development MONDO:0016948 partial duplication of the short arm of chromosome 11 biolink:Disease mondo Orphanet:262785 ORPHA:262785 http://purl.obolibrary.org/obo/MONDO_0016948 partial trisomy of chromosome 11p|partial trisomy of the short arm of chromosome 11|partial duplication of chromosome 11p|partial duplication of the short arm of chromosome type 11 ordo_group_of_disorders MONDO:0016949 partial duplication of the short arm of chromosome 16 biolink:Disease mondo Orphanet:262794|GARD:0005315|UMLS:C0795861 Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. UMLS:C0795861|ORPHA:262794 http://purl.obolibrary.org/obo/MONDO_0016949 partial trisomy of the short arm of chromosome 16|Duplication 16p|16p duplication|partial duplication of the short arm of chromosome type 16|partial trisomy of chromosome 16p|chromosome 16p duplication|partial trisomy 16p|16p trisomy|trisomy 16p|partial duplication of chromosome 16p gard_rare|ordo_group_of_disorders UBERON:0013585 metapodium bone 5 biolink:AnatomicalEntity mondo A metapodium bone that is part of a digit 5 plus metapodial segment. http://purl.obolibrary.org/obo/UBERON_0013585 metapodium V|metapodium 5 MONDO:0016955 partial duplication of the long arm of chromosome 4 biolink:Disease mondo Orphanet:262860|ICD10:Q92.3|MESH:C537644|GARD:0005347|UMLS:C0795812|DOID:0111159 Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person. DOID:0111159|MESH:C537644|UMLS:C0795812|ORPHA:262860 http://purl.obolibrary.org/obo/MONDO_0016955 dup(4q) syndrome, partial|distal 4q trisomy|Duplication 4q syndrome, partial|chromosome 4q duplication|partial duplication of the long arm of chromosome type 4|partial trisomy distal 4q|chromosome 4, partial trisomy 4q|partial trisomy 4q syndrome|4q trisomy|Duplication 4q|partial duplication of chromosome 4q|4q duplication|partial trisomy of the long arm of chromosome 4|trisomy 4q|partial trisomy 4q|partial trisomy of chromosome 4q ordo_group_of_disorders|gard_rare MONDO:0016956 partial trisomy of the long arm of chromosome 5 biolink:Disease mondo Orphanet:262869|MESH:C537650|UMLS:C1802398|GARD:0005351 Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. UMLS:C1802398|MESH:C537650|ORPHA:262869 http://purl.obolibrary.org/obo/MONDO_0016956 5q trisomy|partial trisomy of the long arm of chromosome type 5|Duplication 5q|partial duplication of chromosome 5q|5q duplication|trisomy 5q|partial trisomy 5q|partial trisomy of chromosome 5q|partial duplication of the long arm of chromosome 5|chromosome 5q duplication ordo_group_of_disorders|gard_rare MONDO:0016957 partial duplication of the long arm of chromosome 6 biolink:Disease mondo MESH:C537812|Orphanet:262878|GARD:0005353 Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person. MESH:C537812|ORPHA:262878 http://purl.obolibrary.org/obo/MONDO_0016957 chromosome 6q duplication|partial trisomy of the long arm of chromosome 6|partial duplication of chromosome 6q|6q trisomy|Duplication 6q|partial trisomy of chromosome 6q|6q duplication|trisomy 6q|partial duplication of the long arm of chromosome type 6|partial trisomy 6q ordo_group_of_disorders|gard_rare MONDO:0016958 partial duplication of the long arm of chromosome 7 biolink:Disease mondo MESH:C537821|GARD:0005357|UMLS:C0795821|Orphanet:262887 Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. UMLS:C0795821|MESH:C537821|ORPHA:262887 http://purl.obolibrary.org/obo/MONDO_0016958 partial trisomy of the long arm of chromosome 7|trisomy 7q|partial trisomy 7q|partial duplication of chromosome 7q|chromosome 7q duplication|partial trisomy of chromosome 7q|partial duplication of the long arm of chromosome type 7|7q trisomy|Duplication 7q|7q duplication ordo_group_of_disorders|gard_rare MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 biolink:Disease mondo Orphanet:262812 ORPHA:262812 http://purl.obolibrary.org/obo/MONDO_0016951 partial duplication/triplication of the short arm of chromosome 18|partial trisomy/tetrasomy of chromosome 18p|partial trisomy/tetrasomy of the short arm of chromosome type 18|partial duplication/triplication of chromosome 18p ordo_group_of_disorders MONDO:0016952 partial duplication of the long arm of chromosome 1 biolink:Disease mondo GARD:0010831|UMLS:C0795800|Orphanet:262833|NCIT:C36521 ORPHA:262833|NCIT:C36521|UMLS:C0795800 http://purl.obolibrary.org/obo/MONDO_0016952 partial trisomy of the long arm of chromosome 1|1q duplications|partial duplication of chromosome 1q|partial duplication of the long arm of chromosome type 1|partial trisomy 1q|partial trisomy of chromosome 1q ordo_group_of_disorders MONDO:0016953 partial duplication of the long arm of chromosome 2 biolink:Disease mondo MESH:C535367|UMLS:C0795805|GARD:0005340|Orphanet:262842 Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. MESH:C535367|ORPHA:262842|UMLS:C0795805 http://purl.obolibrary.org/obo/MONDO_0016953 2q duplication|partial trisomy of the long arm of chromosome 2|trisomy 2q|partial trisomy 2q|partial duplication of the long arm of chromosome type 2|partial duplication of chromosome 2q|chromosome 2q duplication|2q trisomy|Duplication 2q|partial trisomy of chromosome 2q ordo_group_of_disorders|gard_rare NCBITaxon:85819 Phthiraptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_85819 lice|lice MONDO:0016954 partial duplication of the long arm of chromosome 3 biolink:Disease mondo GARD:0005345|Orphanet:262851|MESH:C536813|UMLS:C0795809 Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. MESH:C536813|ORPHA:262851|UMLS:C0795809 http://purl.obolibrary.org/obo/MONDO_0016954 chromosome 3q duplication|Duplication 3q|partial duplication of the long arm of chromosome type 3|trisomy 3q|partial duplication of chromosome 3q|chromosome 3, trisomy 3q|partial trisomy of chromosome 3q ordo_group_of_disorders|gard_rare MONDO:0016950 partial duplication of the short arm of chromosome 17 biolink:Disease mondo Orphanet:262803 ORPHA:262803 http://purl.obolibrary.org/obo/MONDO_0016950 partial duplication of chromosome 17p|partial trisomy of the short arm of chromosome 17|partial duplication of the short arm of chromosome type 17|partial trisomy of chromosome 17p ordo_group_of_disorders NCBITaxon:36855 Brucella canis organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_36855 Brucella melitensis biovar Canis|Brucella melitensis bv. Canis MONDO:0002318 trachea leiomyoma biolink:Disease mondo SCTID:126703006|DOID:248|UMLS:C1336772|NCIT:C6049 A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. DOID:248|NCIT:C6049|SNOMEDCT:126703006|UMLS:C1336772 http://purl.obolibrary.org/obo/MONDO_0002318 trachea leiomyoma|leiomyoma of trachea|tracheal leiomyoma|leiomyoma of the trachea|tracheal tumor|trachea neoplasm|neoplasm of trachea|tracheal neoplasm MONDO:0002319 phosphorus metabolism disease biolink:Disease mondo NCIT:C97095|UMLS:C0031707|ICD10:E83.3|ICD9:275.3|DOID:2485|COHD:435788|SCTID:87049008|MESH:D010760 A metabolic disorder that affects the phosphate homeostasis. SNOMEDCT:87049008|UMLS:C0031707|DOID:2485|NCIT:C97095|MESH:D010760 http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus disorder|phosphorus metabolism disorder|disorder of phosphorus metabolism|phosphorus metabolic disorder HGNC:11153 SNRPB biolink:OntologyClass mondo http://identifiers.org/hgnc/11153 NCBITaxon:10240 Poxviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10240 NCBITaxon:10241 Chordopoxvirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10241 MONDO:0002376 spleen angiosarcoma biolink:Disease mondo SCTID:187821001|UMLS:C0346424|NCIT:C4564|ICD9:159.1|DOID:265 A malignant vascular neoplasm arising from the spleen. UMLS:C0346424|DOID:265|SNOMEDCT:187821001|NCIT:C4564 http://purl.obolibrary.org/obo/MONDO_0002376 splenic hemangiosarcoma|hemangiosarcoma of spleen|angiosarcoma of spleen|angiosarcoma of the spleen|hemangiosarcoma of the spleen|angiosarcoma (disease) of spleen|spleen angiosarcoma (disease)|splenic angiosarcoma MONDO:0002377 breast intracanalicular fibroadenoma biolink:Disease mondo DOID:2656|ICDO:9011/0|UMLS:C0334496|NCIT:C4271 A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells. UMLS:C0334496|DOID:2656|NCIT:C4271 http://purl.obolibrary.org/obo/MONDO_0002377 intracanalicular fibroadenoma of breast|intracanalicular fibroadenoma of the breast|intracanalicular breast fibroadenoma|intracanalicular fibroadenoma|breast intracanalicular fibroadenoma HGNC:23109 FAT4 biolink:OntologyClass mondo http://identifiers.org/hgnc/23109 MONDO:0002378 dermoid cyst biolink:Disease mondo NCIT:C9011|DOID:2658|ICD10:K09.8|EFO:1000894|SCTID:441459009|MESH:D003884|UMLS:C2700593|ICDO:9084/0|UMLS:C2355625|UMLS:C0011649 A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. MESH:D003884|NCIT:C9011|UMLS:C2700593|SNOMEDCT:441459009|UMLS:C2355625|UMLS:C0011649|DOID:2658 http://purl.obolibrary.org/obo/MONDO_0002378 subcutaneous cystic teratoma|benign cystic teratoma|dermoid cyst, benign|dermoid|dermoid tumor|teratoma, benign (morphologic abnormality)|mature cystic teratoma|dermoid cyst|teratoma, benign|dermoid choristoma|cystic dermoid choristoma|dermoid tumour MONDO:0002379 cystic teratoma biolink:Disease mondo NCIT:C9014|DOID:2660|UMLS:C1368903 NCIT:C9014|UMLS:C1368903|DOID:2660 http://purl.obolibrary.org/obo/MONDO_0002379 cystic teratoma MONDO:0002372 ovarian monodermal and highly specialized teratoma biolink:Disease mondo NCIT:C8113|DOID:2641|UMLS:C0280134 A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue. NCIT:C8113|UMLS:C0280134|DOID:2641 http://purl.obolibrary.org/obo/MONDO_0002372 ovarian germ cell monodermal and highly specialized teratoma|ovarian monodermal and highly specialized teratoma MONDO:0002373 benign mesothelioma biolink:Disease mondo DOID:2645|UMLS:C0348424|ICD9:215.9|SCTID:254825007|ICD10:C45|ICD10:C45.9 A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body. DOID:2645|UMLS:C0348424|SNOMEDCT:254825007 http://purl.obolibrary.org/obo/MONDO_0002373 benign tumor of mesothelial tissue|benign tumor of mesothelium|mesothelioma, benign GO:1903942 positive regulation of respiratory gaseous exchange biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange. http://purl.obolibrary.org/obo/GO_1903942 activation of respiratory gaseous exchange|up-regulation of respiratory gaseous exchange|upregulation of respiratory gaseous exchange|up regulation of respiratory gaseous exchange MONDO:0002374 obsolete parachordoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002374 MONDO:0002375 sebaceous adenoma biolink:Disease mondo DOID:2648|UMLS:C1368816|ICDO:8410/0|NCIT:C4174 A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells. UMLS:C1368816|DOID:2648|NCIT:C4174 http://purl.obolibrary.org/obo/MONDO_0002375 adenoma of the sebaceous gland|sebaceous adenoma (morphologic abnormality)|adenoma of sebaceous gland|skin appendage sebaceous adenoma|adenoma, sebaceous, benign|sebaceous gland adenoma GO:1903941 negative regulation of respiratory gaseous exchange biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of respiratory gaseous exchange. http://purl.obolibrary.org/obo/GO_1903941 downregulation of respiratory gaseous exchange|down regulation of respiratory gaseous exchange|inhibition of respiratory gaseous exchange|down-regulation of respiratory gaseous exchange HGNC:25763 SMG9 biolink:OntologyClass mondo http://identifiers.org/hgnc/25763 GO:0048545 response to steroid hormone biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. http://purl.obolibrary.org/obo/GO_0048545 response to steroid hormone stimulus MONDO:0002370 ovarian Brenner tumor biolink:Disease mondo GARD:0009397|EFO:1000112|NCIT:C3872|MESH:D001948|DOID:2636|SCTID:254859006 A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature. NCIT:C3872|MESH:D001948|SNOMEDCT:254859006|DOID:2636 http://purl.obolibrary.org/obo/MONDO_0002370 Brenner tumor of the ovary|ovarian Brenner neoplasm|Brenner tumor of ovary|Brenner tumor|Brenner neoplasm of the ovary|Brenner neoplasm of ovary|benign ovarian Brenner tumor|ovarian Brenner tumor|ovary Brenner tumor MONDO:0002371 breast pericanalicular fibroadenoma biolink:Disease mondo ICDO:9012/0|DOID:2639|NCIT:C4272|UMLS:C0334497 A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures. DOID:2639|NCIT:C4272|UMLS:C0334497 http://purl.obolibrary.org/obo/MONDO_0002371 pericanalicular fibroadenoma (morphologic abnormality)|pericanalicular fibroadenoma of the breast|pericanalicular breast fibroadenoma|breast pericanalicular fibroadenoma|pericanalicular fibroadenoma|pericanalicular fibroadenoma of breast MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome biolink:Disease mondo DOID:0080328|UMLS:C4014479|OMIM:615849|Orphanet:420584|ICD10:Q87.8|GARD:0013349 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. http://identifiers.org/omim/615849|DOID:0080328|UMLS:C4014479|ORPHA:420584 http://purl.obolibrary.org/obo/MONDO_0014369 Pallister-Hall syndrome 2, formerly|Pallister-Hall syndrome 2|Culler-Jones syndrome|Culler-Jones syndrome; CJS|CJS ordo_malformation_syndrome MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 biolink:Disease mondo OMIM:615848 http://identifiers.org/omim/615848 http://purl.obolibrary.org/obo/MONDO_0014368 susceptibility to cutaneous malignant melanoma 10|melanoma, cutaneous malignant, susceptibility to, 10; CMM10|melanoma, cutaneous malignant, susceptibility to, 10|melanoma, cutaneous malignant, susceptibility to, type 10|CMM10 predisposition MONDO:0014367 Aicardi-Goutieres syndrome 7 biolink:Disease mondo OMIM:615846|UMLS:C3888244 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene. http://identifiers.org/omim/615846|UMLS:C3888244 http://purl.obolibrary.org/obo/MONDO_0014367 AGS7|Aicardi-Goutieres syndrome type 7|Aicardi-Goutieres syndrome caused by mutation in IFIH1|Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome 7; AGS7|IFIH1 Aicardi-Goutieres syndrome MONDO:0014366 spermatogenic failure 14 biolink:Disease mondo UMLS:C4014454|DOID:0070179|OMIM:615842 Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene. http://identifiers.org/omim/615842|UMLS:C4014454|DOID:0070179 http://purl.obolibrary.org/obo/MONDO_0014366 SPGF14|spermatogenic failure 14; SPGF14|spermatogenic failure 14|ZMYND15 azoospermia|azoospermia caused by mutation in ZMYND15|spermatogenic failure type 14 HGNC:11123 SMS biolink:OntologyClass mondo http://identifiers.org/hgnc/11123 MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency biolink:Disease mondo UMLS:C4014435|Orphanet:352490|DOID:0070056|ICD10:F84.1|OMIM:615834 Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. UMLS:C4014435|DOID:0070056|http://identifiers.org/omim/615834|ORPHA:352490 http://purl.obolibrary.org/obo/MONDO_0014361 mental retardation, autosomal dominant 26|mental retardation, autosomal dominant 26; MRD26|intellectual disability type 26|autosomal dominant mental retardation 26|MRD26|ASD due to AUTS2 deficiency|autosomal dominant non-syndromic intellectual disability 26|AUTS2 syndrome|mental retardation, autosomal dominant type 26 ordo_disease MONDO:0014360 developmental and epileptic encephalopathy, 21 biolink:Disease mondo OMIM:615833|UMLS:C4014430 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene. UMLS:C4014430|http://identifiers.org/omim/615833 http://purl.obolibrary.org/obo/MONDO_0014360 DEE21|EIEE21|early infantile epileptic encephalopathy caused by mutation in NECAP1|epileptic encephalopathy, early infantile, 21|NECAP1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 21; EIEE21|epileptic encephalopathy, early infantile, type 21 NCBITaxon:10292 Herpesviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10292 NCBITaxon:10293 Alphaherpesvirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesviruses MONDO:0014365 spermatogenic failure 13 biolink:Disease mondo OMIM:615841|DOID:0070182|UMLS:C4014449 Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene. UMLS:C4014449|DOID:0070182|http://identifiers.org/omim/615841 http://purl.obolibrary.org/obo/MONDO_0014365 TAF4B azoospermia|spermatogenic failure 13; SPGF13|SPGF13|azoospermia caused by mutation in TAF4B|spermatogenic failure 13|spermatogenic failure type 13 HGNC:11122 SMPX biolink:OntologyClass mondo http://identifiers.org/hgnc/11122 MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 biolink:Disease mondo DOID:0080117|OMIM:615838|UMLS:C4014440 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene. DOID:0080117|UMLS:C4014440|http://identifiers.org/omim/615838 http://purl.obolibrary.org/obo/MONDO_0014364 mitochondrial complex III deficiency, nuclear type 8|LYRM7 mitochondrial complex III deficiency|MC3DN8|mitochondrial Complex 3 deficiency, nuclear type 8|mitochondrial complex III deficiency, nuclear type 8; MC3DN8|mitochondrial complex III deficiency caused by mutation in LYRM7 NCBITaxon:10294 Simplexvirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10294 NCBITaxon:578835 Rhipicephalus sanguineus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_578835 MONDO:0014363 autosomal recessive nonsyndromic deafness 101 biolink:Disease mondo UMLS:C3892049|OMIM:615837|ICD10:H90.3|DOID:0110462 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene. DOID:0110462|http://identifiers.org/omim/615837|UMLS:C3892049 http://purl.obolibrary.org/obo/MONDO_0014363 autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2|GRXCR2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 101|DFNB101|autosomal recessive nonsyndromic deafness type 101|deafness, autosomal recessive type 101|deafness, autosomal recessive 101; DFNB101|autosomal recessive deafness 101 HGNC:11120 SMPD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11120 MONDO:0014362 chromosome 16 inversion, 0.45-Mb biolink:Disease mondo OMIM:615835 http://identifiers.org/omim/615835 http://purl.obolibrary.org/obo/MONDO_0014362 chromosome 16 inversion, 0.45-Mb HGNC:13780 GFM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13780 MONDO:0002387 liver angiosarcoma biolink:Disease mondo ICD10:C22.3|GARD:0005813|DOID:268|ONCOTREE:LIAS|NCIT:C4438|UMLS:C0345907|ICDO:9124/3|SCTID:109844006 A malignant vascular neoplasm arising from the liver. DOID:268|UMLS:C0345907|NCIT:C4438|SNOMEDCT:109844006 http://purl.obolibrary.org/obo/MONDO_0002387 angiosarcoma (disease) of liver|liver angiosarcoma|primary angiosarcoma of the liver|primary angiosarcoma of liver|angiosarcoma of the liver|liver hemangiosarcoma|hemangiosarcoma of liver|Lias|hepatic angiosarcoma|hepatic hemangiosarcoma|hemangiosarcoma of the liver|angiosarcoma of liver|liver angiosarcoma (disease) gard_rare GO:1903959 regulation of anion transmembrane transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of anion transmembrane transport. http://purl.obolibrary.org/obo/GO_1903959 MONDO:0002388 intracystic papillary adenoma biolink:Disease mondo UMLS:C0334374|DOID:2682|ICDO:8504/0|NCIT:C4191 A papillary epithelial neoplasm arising in a cystically dilated breast duct. DOID:2682|NCIT:C4191|UMLS:C0334374 http://purl.obolibrary.org/obo/MONDO_0002388 intracystic papillary adenoma (morphologic abnormality)|intracystic papillary adenoma|intracystic papilloma MONDO:0002389 obsolete adenofibroma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002389 MONDO:0002383 Pacinian tumor biolink:Disease mondo NCIT:C4328|ICD9:215.9|UMLS:C0334599|ICDO:9507/0|DOID:2669|SCTID:404033003 A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles. DOID:2669|NCIT:C4328|UMLS:C0334599|SNOMEDCT:404033003 http://purl.obolibrary.org/obo/MONDO_0002383 Pacinian neurofibroma|Pacinian tumor (morphologic abnormality) MONDO:0002384 obsolete transitional cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002384 MONDO:0002385 benign cystic nephroma biolink:Disease mondo EFO:1000213|ICDO:8959/0|DOID:2673|UMLS:C1266138|NCIT:C7504 A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. UMLS:C1266138|NCIT:C7504|DOID:2673 http://purl.obolibrary.org/obo/MONDO_0002385 benign multilocular cystic nephroma|benign cystic nephroma|cystic nephroma MONDO:0002386 mixed epithelial stromal tumor of the kidney biolink:Disease mondo DOID:2678|EFO:1000381|UMLS:C1272677|NCIT:C37263 A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria. UMLS:C1272677|DOID:2678|NCIT:C37263 http://purl.obolibrary.org/obo/MONDO_0002386 adult mesoblastic nephroma|mixed epithelial and stromal tumour of kidney|mixed epithelial stromal tumor of the kidney|MEST|benign MEST HGNC:25774 TCTN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25774 MONDO:0002380 myoepithelial tumor biolink:Disease mondo ICDO:8982/1|DOID:2661|ICDO:8982/0|UMLS:C1947949|MESH:D009208|NCIT:C40392|UMLS:C0027070 A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. UMLS:C1947949|DOID:2661|UMLS:C0027070|NCIT:C40392|MESH:D009208 http://purl.obolibrary.org/obo/MONDO_0002380 myoepithelial neoplasm|myoepithelioma|myoepithelial tumor|benign myoepithelioma|myoepithelial adenoma MONDO:0002381 sweat gland neoplasm biolink:Disease mondo SCTID:126490003|DOID:2664|ICDO:8400/1|UMLS:C0038987|ICD9:239.2|MESH:D013544|NCIT:C3398|EFO:1001204 A benign or malignant neoplasm arising from the sweat glands. MESH:D013544|UMLS:C0038987|DOID:2664|SNOMEDCT:126490003|NCIT:C3398 http://purl.obolibrary.org/obo/MONDO_0002381 neoplasm of the sweat gland|tumor of sweat gland|sweat gland neoplasms|sweat gland neoplasm|sweat gland neoplasm (disease)|neoplasm of sweat gland|tumor of the sweat gland|sweat gland tumor|sweat gland tumor NOS (morphologic abnormality)|sweat gland tumor (morphologic abnormality) MONDO:0002382 benign mesenchymoma biolink:Disease mondo UMLS:C0334491|NCIT:C4267|ICDO:8990/0|DOID:2667 A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. DOID:2667|NCIT:C4267|UMLS:C0334491 http://purl.obolibrary.org/obo/MONDO_0002382 mesenchymoma, benign (morphologic abnormality)|mesenchymal tumor, benign|mesenchymoma, benign MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome biolink:Disease mondo ICD10:Q87.8|DOID:0070055|Orphanet:412069|OMIM:615829|UMLS:C4014419|EFO:0009015 DOID:0070055|http://identifiers.org/omim/615829|ORPHA:412069|UMLS:C4014419 http://purl.obolibrary.org/obo/MONDO_0014358 mental retardation, autosomal dominant 25|Xia-Gibbs syndrome|autosomal dominant intellectual disability 25|intellectual disability, autosomal dominant 25|MRD25|autosomal dominant mental retardation 25 ordo_malformation_syndrome MONDO:0014357 intellectual disability, autosomal dominant 24 biolink:Disease mondo OMIM:615828|UMLS:C4014414|DOID:0070054 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene. DOID:0070054|http://identifiers.org/omim/615828|UMLS:C4014414 http://purl.obolibrary.org/obo/MONDO_0014357 autosomal dominant mental retardation 24|mental retardation, autosomal dominant type 24|intellectual disability, autosomal dominant type 24|autosomal dominant intellectual disability 24|mental retardation, autosomal dominant 24; MRD24|mental retardation, autosomal dominant 24|autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1|autosomal dominant non-syndromic intellectual disability 24|intellectual disability, autosomal dominant 24; MRD24|DEAF1 autosomal dominant non-syndromic intellectual disability|MRD24|intellectual disability, autosomal dominant 24 MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 biolink:Disease mondo DOID:0080116|OMIM:615824|UMLS:C4014408 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene. http://identifiers.org/omim/615824|DOID:0080116|UMLS:C4014408 http://purl.obolibrary.org/obo/MONDO_0014356 mitochondrial complex III deficiency, nuclear type 7|mitochondrial complex III deficiency caused by mutation in UQCC2|mitochondrial Complex 3 deficiency, nuclear type 7|mitochondrial complex III deficiency, nuclear type 7; MC3DN7|UQCC2 mitochondrial complex III deficiency|MC3DN7 MONDO:0041903 gonococcal infection of joint biolink:Disease mondo UMLS:C0153216|SCTID:44743006 UMLS:C0153216|SNOMEDCT:44743006 http://purl.obolibrary.org/obo/MONDO_0041903 gonococcal arthritis|gonococcal infection of joint|gonococcal joint infection|gonococcal rheumatism MONDO:0014355 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis biolink:Disease mondo OMIM:615821|UMLS:C4014393 http://identifiers.org/omim/615821|UMLS:C4014393 http://purl.obolibrary.org/obo/MONDO_0014355 DCWHKTA|cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis; DCWHKTA|cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis GO:0061512 protein localization to cilium biolink:OntologyClass mondo A process in which a protein is transported to, or maintained in, a location within a cilium. http://purl.obolibrary.org/obo/GO_0061512 HGNC:13797 PRX biolink:OntologyClass mondo http://identifiers.org/hgnc/13797 HGNC:11139 SNCAIP biolink:OntologyClass mondo http://identifiers.org/hgnc/11139 MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 biolink:Disease mondo UMLS:C4014425|OMIM:615830 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene. http://identifiers.org/omim/615830|UMLS:C4014425 http://purl.obolibrary.org/obo/MONDO_0014359 Cushing syndrome, adrenal, due to Ppnad4|PPNAD4|PRKACA primary pigmented nodular adrenocortical disease|ACTH-independent adrenal Cushing syndrome, somatic|pigmented nodular adrenocortical disease, primary, 4; PPNAD4|pigmented nodular adrenocortical disease, primary, type 4|primary pigmented nodular adrenocortical disease caused by mutation in PRKACA|pigmented nodular adrenocortical disease, primary, 4|chromosome 19P13 Duplication syndrome HGNC:11138 SNCA biolink:OntologyClass mondo http://identifiers.org/hgnc/11138 MONDO:0014350 Seckel syndrome 8 biolink:Disease mondo OMIM:615807|UMLS:C3891452|DOID:0070009 Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene. UMLS:C3891452|DOID:0070009|http://identifiers.org/omim/615807 http://purl.obolibrary.org/obo/MONDO_0014350 Seckel syndrome caused by mutation in DNA2|SCKL8|Seckel syndrome 8; SCKL8|Seckel syndrome type 8|DNA2 Seckel syndrome|Seckel syndrome 8 MONDO:0014354 intellectual disability, autosomal recessive 43 biolink:Disease mondo OMIM:615817|UMLS:C4014386 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene. http://identifiers.org/omim/615817|UMLS:C4014386 http://purl.obolibrary.org/obo/MONDO_0014354 WASHC4 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 43|intellectual disability, autosomal recessive type 43|mental retardation, autosomal recessive 43|mental retardation, autosomal recessive 43; MRT43|autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4|MRT43|intellectual disability, autosomal recessive 43|intellectual disability, autosomal recessive 43; MRT43 HGNC:11133 SNAP29 biolink:OntologyClass mondo http://identifiers.org/hgnc/11133 MONDO:0014353 PGM3-CDG biolink:Disease mondo GARD:0004331|Orphanet:443811|ICD10:E77.8|UMLS:C4014371|OMIM:615816 http://identifiers.org/omim/615816|ORPHA:443811|UMLS:C4014371 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23; IMD23|Cid due to PGM3 deficiency|IMD23|phosphoglucomutase 3 deficiency|combined immunodeficiency due to PGM3 deficiency|immunodeficiency with hyper IgE and cognitive impairment|phosphoglucomutase deficiency type 3|immunodeficiency-vasculitis-myoclonus syndrome|PGM3-related congenital disorder of glycosylation|immunodeficiency type 23|immunodeficiency 23 ordo_disease HGNC:11132 SNAP25 biolink:OntologyClass mondo http://identifiers.org/hgnc/11132 MONDO:0014352 abdominal obesity-metabolic syndrome 3 biolink:Disease mondo DOID:0060612|UMLS:C4014361|OMIM:615812 Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene. http://identifiers.org/omim/615812|UMLS:C4014361|DOID:0060612 http://purl.obolibrary.org/obo/MONDO_0014352 abdominal obesity-metabolic syndrome type 3|abdominal obesity-metabolic syndrome 3|abdominal obesity-metabolic syndrome 3; AOMS3|DYRK1B metabolic syndrome|metabolic syndrome caused by mutation in DYRK1B|central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease|AOMS3 MONDO:0014351 pontocerebellar hypoplasia type 9 biolink:Disease mondo Orphanet:369920|OMIM:615809|DOID:0060278|ICD10:Q04.3|UMLS:C4014354 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene. UMLS:C4014354|DOID:0060278|ORPHA:369920|http://identifiers.org/omim/615809 http://purl.obolibrary.org/obo/MONDO_0014351 pontocerebellar hypoplasia, type 9|pontocerebellar hypoplasia, type 9; PCH9|non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2|AMPD2 non-syndromic pontocerebellar hypoplasia|PCH9 ordo_malformation_syndrome MONDO:0002358 laryngeal carcinoma biolink:Disease mondo GARD:0006862|SCTID:276975007|DOID:2600|NCIT:C4855|UMLS:C0595989 Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation. DOID:2600|NCIT:C4855|SNOMEDCT:276975007|UMLS:C0595989 http://purl.obolibrary.org/obo/MONDO_0002358 cancer of larynx|laryngeal cancer|cancer of the larynx|cancer of larynx|cancer of the larynx|carcinoma of the larynx|carcinoma of larynx|laryngeal throat cancer|larynx carcinoma|laryngeal cancer|laryngeal carcinoma|laryngeal throat cancer MONDO:0002359 periosteal chondroma biolink:Disease mondo ICDO:9221/0|DOID:2601|UMLS:C0334548|NCIT:C4302 A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. DOID:2601|NCIT:C4302|UMLS:C0334548 http://purl.obolibrary.org/obo/MONDO_0002359 juxtacortical chondroma (morphologic abnormality)|periosteal chondroma|juxtacortical chondroma NCBITaxon:10278 Molluscipoxvirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10278 MONDO:0002354 benign laryngeal neoplasm biolink:Disease mondo NCIT:C3601|SCTID:92175003|DOID:2598|UMLS:C0153952|COHD:23731|ICD9:212.1 A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma. SNOMEDCT:92175003|UMLS:C0153952|NCIT:C3601|DOID:2598 http://purl.obolibrary.org/obo/MONDO_0002354 larynx neoplasm|laryngeal tumor|benign tumor of larynx|benign tumor of the larynx|benign neoplasm of larynx|benign neoplasm of the larynx|benign larynx tumor|benign laryngeal tumor|laryngeal benign neoplasm|larynx benign neoplasm|benign laryngeal neoplasm|neoplasm of larynx|benign larynx neoplasm|laryngeal neoplasm, benign NCBITaxon:10279 Molluscum contagiosum virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10279 MOCV MONDO:0002355 glottis carcinoma biolink:Disease mondo SCTID:372103002|DOID:2599|NCIT:C4923|UMLS:C0740083 A carcinoma that arises from epithelial cells of the glottis. SNOMEDCT:372103002|NCIT:C4923|UMLS:C0740083|DOID:2599 http://purl.obolibrary.org/obo/MONDO_0002355 glottic carcinoma|glottic throat cancer|carcinoma of the glottis|cancer of the glottis|glottis cancer|carcinoma of glottis|cancer of glottis|glottis carcinoma MONDO:0002356 pancreas disease biolink:Disease mondo ICD9:577.9|NCIT:C26842|DOID:26|SCTID:3855007|ICD9:577.8|MESH:D010182|ICD10:K86.8 A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. NCIT:C26842|DOID:26|MESH:D010182|SNOMEDCT:3855007 http://purl.obolibrary.org/obo/MONDO_0002356 pancreatic disorder|pancreas disease or disorder|disorder of pancreas|disease, pancreatic|disease of pancreas|disorder of pancreas|disease or disorder of pancreas|pancreatic disease|pancreas disease|diseases, pancreatic MONDO:0002357 hepatic flexure cancer biolink:Disease mondo ICD10:C18.3|ICD9:153.0|DOID:260|UMLS:C0153433|SCTID:363407001 A malignant neoplasm involving the hepatic flexure of colon. UMLS:C0153433|DOID:260|SNOMEDCT:363407001 http://purl.obolibrary.org/obo/MONDO_0002357 cancer of hepatic flexure of colon|malignant hepatic flexure of colon neoplasm|Ca hepatic flexure - colon|malignant tumor of hepatic flexure|malignant neoplasm of hepatic flexure of colon|malignant neoplasm of hepatic flexure|hepatic flexure of colon cancer MONDO:0002350 familial nephrotic syndrome biolink:Disease mondo UMLS:CN043611|UMLS:C3501848|ICD10:N04|NCIT:C35337|OMIMPS:256300|SCTID:48796009|DOID:2590 An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. NCIT:C35337|UMLS:CN043611|UMLS:C3501848|DOID:2590|SNOMEDCT:48796009 http://purl.obolibrary.org/obo/MONDO_0002350 hereditary nephrotic syndrome|congenital nephrotic syndrome MONDO:0002351 glottis cancer biolink:Disease mondo NCIT:C3544|ICD9:161.0|COHD:4092211|SCTID:187841006|ICD10:C32.0|DOID:2595|UMLS:C0153483 A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas. UMLS:C0153483|NCIT:C3544|SNOMEDCT:187841006|DOID:2595 http://purl.obolibrary.org/obo/MONDO_0002351 Ca larynx - glottis|malignant tumor of glottis|cancer of glottis|malignant tumor of the glottis|glottis cancer|malignant glottis neoplasm|malignant neoplasm of glottis|malignant neoplasm of the glottis|malignant glottis tumor MONDO:0002352 larynx cancer biolink:Disease mondo ICD9:161.8|UMLS:C0007107|EFO:1000354|NCIT:C7484|ICD10:C32|ICD9:161|DOID:2596|ICD9:161.9|SCTID:363429002|ICD10:C32.9 A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas. UMLS:C0007107|NCIT:C7484|DOID:2596|SNOMEDCT:363429002 http://purl.obolibrary.org/obo/MONDO_0002352 cancer of larynx|malignant larynx tumor|malignant neoplasm of the larynx|malignant larynx neoplasm|larynx cancer|malignant laryngeal neoplasm|malignant tumor of larynx|malignant tumor of the larynx|malignant neoplasm of larynx|malignant laryngeal tumor MONDO:0002353 glottis neoplasm biolink:Disease mondo SCTID:126693009|DOID:2597|UMLS:C0345713|NCIT:C4425 A benign or malignant neoplasm that affects the glottic area of the larynx. NCIT:C4425|UMLS:C0345713|SNOMEDCT:126693009|DOID:2597 http://purl.obolibrary.org/obo/MONDO_0002353 glottis neoplasm|neoplasm of glottis|glottis tumor|tumor of the glottis|glottis neoplasm (disease)|tumor of glottis|neoplasm of the glottis GO:1903961 positive regulation of anion transmembrane transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of anion transmembrane transport. http://purl.obolibrary.org/obo/GO_1903961 up-regulation of anion transmembrane transport|up regulation of anion transmembrane transport|activation of anion transmembrane transport|upregulation of anion transmembrane transport HGNC:25740 CEP78 biolink:OntologyClass mondo http://identifiers.org/hgnc/25740 GO:1903960 negative regulation of anion transmembrane transport biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of anion transmembrane transport. http://purl.obolibrary.org/obo/GO_1903960 inhibition of anion transmembrane transport|downregulation of anion transmembrane transport|down-regulation of anion transmembrane transport|down regulation of anion transmembrane transport GO:0048565 digestive tract development biolink:OntologyClass mondo The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed. http://purl.obolibrary.org/obo/GO_0048565 intestine development|intestinal development|gut development MONDO:0014347 short stature with microcephaly and distinctive facies biolink:Disease mondo UMLS:C4014339|OMIM:615789 http://identifiers.org/omim/615789|UMLS:C4014339 http://purl.obolibrary.org/obo/MONDO_0014347 short stature with microcephaly and distinctive facies MONDO:0014346 white sponge nevus 2 biolink:Disease mondo UMLS:C4014321|OMIM:615785 http://identifiers.org/omim/615785|UMLS:C4014321 http://purl.obolibrary.org/obo/MONDO_0014346 WSN2|White sponge Nevus type 2|WHITE sponge NEVUS 2; WSN2|white sponge nevus 2 HGNC:11103 SMARCB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11103 MONDO:0014345 retinitis pigmentosa 69 biolink:Disease mondo DOID:0110410|OMIM:615780|UMLS:C4014312|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene. http://identifiers.org/omim/615780|UMLS:C4014312|DOID:0110410 http://purl.obolibrary.org/obo/MONDO_0014345 retinitis pigmentosa type 69|KIZ retinitis pigmentosa|retinitis pigmentosa 69; RP69|retinitis pigmentosa 69|retinitis pigmentosa caused by mutation in KIZ|RP69 HGNC:11102 SMARCAL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11102 MONDO:0014344 congenital heart defects, multiple types, 4 biolink:Disease mondo OMIM:615779|UMLS:C4014310 Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene. http://identifiers.org/omim/615779|UMLS:C4014310 http://purl.obolibrary.org/obo/MONDO_0014344 CHTD4|congenital heart defects, multiple types, 4|NR2F2 congenital heart defects, multiple types|congenital heart defects, multiple types caused by mutation in NR2F2|congenital heart defects, multiple types, 4; CHTD4 GO:0061547 glycogen synthase activity, transferring glucose-1-phosphate biolink:OntologyClass mondo Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate. http://purl.obolibrary.org/obo/GO_0061547 MONDO:0014349 pontocerebellar hypoplasia type 10 biolink:Disease mondo ICD10:Q04.3|UMLS:C4014347|DOID:0060279|Orphanet:411493|OMIM:615803 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene. http://identifiers.org/omim/615803|ORPHA:411493|UMLS:C4014347|DOID:0060279 http://purl.obolibrary.org/obo/MONDO_0014349 CLP1 non-syndromic pontocerebellar hypoplasia|PCH10|pontocerebellar hypoplasia, type 10; PCH10|CLP1-related pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 10|non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1 ordo_malformation_syndrome MONDO:0014348 intellectual disability, autosomal recessive 42 biolink:Disease mondo OMIM:615802|UMLS:C4014343 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene. http://identifiers.org/omim/615802|UMLS:C4014343 http://purl.obolibrary.org/obo/MONDO_0014348 mental retardation, autosomal recessive 42; MRT42|MRT42|intellectual disability, autosomal recessive type 42|PGAP1 autosomal recessive non-syndromic intellectual disability|glycosylphosphatidylinositol biosynthesis defect 9|intellectual disability, autosomal recessive 42; MRT42|autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1|intellectual disability, autosomal recessive 42|mental retardation, autosomal recessive type 42|mental retardation, autosomal recessive 42 MONDO:0014343 Desbuquois dysplasia 2 biolink:Disease mondo OMIM:615777|UMLS:C4014294 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene. http://identifiers.org/omim/615777|UMLS:C4014294 http://purl.obolibrary.org/obo/MONDO_0014343 XYLT1 Desbuquois dysplasia|Desbuquois dysplasia type 2|DBQD2|Desbuquois dysplasia caused by mutation in XYLT1|Desbuquois dysplasia 2; DBQD2|Desbuquois dysplasia 2 HGNC:11100 SMARCA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11100 MONDO:0014342 female infertility due to zona pellucida defect biolink:Disease mondo UMLS:C4014291|Orphanet:404466|OMIM:615774|ICD10:N97.8 Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. http://identifiers.org/omim/615774|UMLS:C4014291|ORPHA:404466 http://purl.obolibrary.org/obo/MONDO_0014342 oocyte maturation defect; OOMD|oocyte maturation defect|OOMD1|oocyte maturation defect 1; OOMD1|oocyte maturation defect 1|OOMD ordo_disease MONDO:0014341 complex cortical dysplasia with other brain malformations 6 biolink:Disease mondo DOID:0090136|OMIM:615771|UMLS:C4014283 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene. http://identifiers.org/omim/615771|UMLS:C4014283|DOID:0090136 http://purl.obolibrary.org/obo/MONDO_0014341 cortical dysplasia, Complex, with Other brain malformations type 6|CDCBM56|cortical dysplasia, complex, with other brain malformations 6; CDCBM6|cortical dysplasia, complex, with other brain malformations 6|TUBB complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations type 6|complex cortical dysplasia with other brain malformations caused by mutation in TUBB|CDCBM6 MONDO:0014340 atrial fibrillation, familial, 15 biolink:Disease mondo UMLS:C4014269|OMIM:615770 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene. http://identifiers.org/omim/615770|UMLS:C4014269 http://purl.obolibrary.org/obo/MONDO_0014340 familial atrial fibrillation caused by mutation in NUP155|ATFB15|atrial fibrillation, familial, 15|atrial fibrillation, familial, type 15|NUP155 familial atrial fibrillation|atrial fibrillation, familial, 15; ATFB15 MONDO:0002369 cystadenoma biolink:Disease mondo ICDO:8440/0|NCIT:C2972|DOID:2634|MESH:D003537|UMLS:C0010633 A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas. MESH:D003537|NCIT:C2972|DOID:2634|UMLS:C0010633 http://purl.obolibrary.org/obo/MONDO_0002369 cystadenoma|cystoma|cystadenoma, benign|cystadenoma (morphologic abnormality) MONDO:0002365 kidney hemangiopericytoma biolink:Disease mondo DOID:262|NCIT:C4527|SCTID:254923001|UMLS:C0346256 A hemangiopericytoma arising from the kidney. NCIT:C4527|UMLS:C0346256|DOID:262|SNOMEDCT:254923001 http://purl.obolibrary.org/obo/MONDO_0002365 hemangiopericytoma of the kidney|renal hemangiopericytoma|kidney spindle cell tumor|kidney hemangiopericytoma|hemangiopericytoma of kidney GO:1901318 negative regulation of flagellated sperm motility biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of flagellated sperm motility. http://purl.obolibrary.org/obo/GO_1901318 down regulation of sperm motility|inhibition of sperm movement|down-regulation of sperm motility|negative regulation of sperm motility|downregulation of sperm movement|inhibition of sperm motility|down regulation of sperm movement|downregulation of sperm motility|down-regulation of sperm movement|negative regulation of sperm movement MONDO:0002366 autonomic nervous system neoplasm biolink:Disease mondo NCIT:C5112|DOID:2621|UMLS:C1332356 Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system. UMLS:C1332356|NCIT:C5112|DOID:2621 http://purl.obolibrary.org/obo/MONDO_0002366 neoplasm of the autonomic nervous system|autonomic nervous system neoplasms|autonomic nervous system neoplasm|neoplasm of autonomic nervous system|tumor of autonomic nervous system|autonomic nervous system tumor|autonomic nervous system neoplasm (disease)|tumor of the autonomic nervous system MONDO:0002367 kidney cancer biolink:Disease mondo ICD10:C64|DOID:263|UMLS:CN881103|MESH:D007680|ICD9:189.0|SCTID:363518003|NCIT:C7548 Primary or metastatic malignant neoplasm involving the kidney. SNOMEDCT:363518003|UMLS:CN881103|DOID:263|MESH:D007680|NCIT:C7548 http://purl.obolibrary.org/obo/MONDO_0002367 kidney cancer|malignant neoplasm of kidney|malignant neoplasm of kidney except pelvis|renal cancer|malignant neoplasm of the kidney|malignant kidney neoplasm|malignant kidney tumor|cancer of kidney|malignant tumour of kidney|malignant renal tumor|malignant tumor of kidney|malignant renal neoplasm|malignant tumor of the kidney MONDO:0002368 papillary serous cystadenocarcinoma biolink:Disease mondo NCIT:C8377|SCTID:716649003|DOID:2632|UMLS:C0334359|ICDO:8460/3 A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. UMLS:C0334359|SNOMEDCT:716649003|NCIT:C8377|DOID:2632 http://purl.obolibrary.org/obo/MONDO_0002368 serous surface papillary carcinoma (morphologic abnormality)|papillary serous cystadenocarcinoma|micropapillary serous carcinoma|serous surface papillary carcinoma|papillary serous carcinoma|papillary serous adenocarcinoma GO:1901317 regulation of flagellated sperm motility biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of flagellated sperm motility. http://purl.obolibrary.org/obo/GO_1901317 regulation of sperm movement|regulation of sperm motility MONDO:0002361 transverse colon cancer biolink:Disease mondo ICD9:153.1|DOID:261|SCTID:363408006|UMLS:C0153434|ICD10:C18.4 A malignant neoplasm involving the transverse colon. SNOMEDCT:363408006|DOID:261|UMLS:C0153434 http://purl.obolibrary.org/obo/MONDO_0002361 malignant neoplasm of transverse colon|malignant transverse colon neoplasm|cancer of transverse colon|malignant tumor of transverse colon|transverse colon cancer|Ca transverse colon MONDO:0002362 serous surface papilloma biolink:Disease mondo NCIT:C4181|DOID:2614|ICDO:8461/0|UMLS:C0334360 A non-invasive papillary serous epithelial neoplasm usually arising from the ovary. DOID:2614|NCIT:C4181|UMLS:C0334360 http://purl.obolibrary.org/obo/MONDO_0002362 serous surface papilloma NOS (morphologic abnormality)|serous surface papilloma (morphologic abnormality)|serous surface papilloma MONDO:0002363 papilloma biolink:Disease mondo DOID:2615|MESH:D010212|UMLS:C0030354|SCTID:711329002|ICDO:8050/0|NCIT:C7440 A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. SNOMEDCT:711329002|UMLS:C0030354|NCIT:C7440|MESH:D010212|DOID:2615 http://purl.obolibrary.org/obo/MONDO_0002363 papillomatosis|papilloma, benign|papilloma (except papilloma of bladder M-81201) (morphologic abnormality)|papillomatosis NOS (morphologic abnormality)|papillomatosis, NOS|papilloma HGNC:11109 SMARCE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11109 MONDO:0002364 obsolete Wolffian duct adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002364 HGNC:25751 TRAPPC11 biolink:OntologyClass mondo http://identifiers.org/hgnc/25751 MONDO:0002360 chondroma biolink:Disease mondo DOID:2602|NCIT:C53459|GARD:0006052|MESH:D002812|ICDO:9220/0|UMLS:C0936248 A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes. NCIT:C53459|MESH:D002812|DOID:2602|UMLS:C0936248 http://purl.obolibrary.org/obo/MONDO_0002360 chondroma|central chondroma|chondroma, benign gard_rare MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency biolink:Disease mondo DOID:0070053|Orphanet:404440|UMLS:C3810406|ICD10:Q87.0|OMIM:615761 ORPHA:404440|DOID:0070053|UMLS:C3810406|http://identifiers.org/omim/615761 http://purl.obolibrary.org/obo/MONDO_0014336 mental retardation, autosomal dominant type 23|intellectual disability, autosomal dominant 23; MRD23|autosomal dominant mental retardation 23|mental retardation, autosomal dominant 23; MRD23|intellectual disability, autosomal dominant 23|autosomal dominant intellectual disability 23|mental retardation, autosomal dominant 23|intellectual disability, autosomal dominant type 23|autosomal dominant non-syndromic intellectual disability 23|MRD23 ordo_malformation_syndrome MONDO:0016999 X chromosome number anomaly biolink:Disease mondo Orphanet:263714 ORPHA:263714 http://purl.obolibrary.org/obo/MONDO_0016999 ordo_group_of_disorders HGNC:11115 KDM5D biolink:OntologyClass mondo http://identifiers.org/hgnc/11115 MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome biolink:Disease mondo ICD10:G98|UMLS:C4014239|OMIM:615760|Orphanet:404437 ORPHA:404437|http://identifiers.org/omim/615760|UMLS:C4014239 http://purl.obolibrary.org/obo/MONDO_0014335 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy|microcephaly, progressive, with seizures and cerebral and cerebellar atrophy; MSCCA|MSCCA ordo_malformation_syndrome HGNC:11114 KDM5C biolink:OntologyClass mondo http://identifiers.org/hgnc/11114 MONDO:0014334 severe combined immunodeficiency due to LCK deficiency biolink:Disease mondo Orphanet:280142|OMIM:615758|ICD10:D81.1|UMLS:C4014233 ORPHA:280142|http://identifiers.org/omim/615758|UMLS:C4014233 http://purl.obolibrary.org/obo/MONDO_0014334 immunodeficiency type 22|IMD22|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|immunodeficiency 22|immunodeficiency 22; IMD22|SCID due to LCK deficiency|SCID due to lymphocyte-specific protein tyrosine kinase deficiency ordo_disease MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive biolink:Disease mondo UMLS:C3810405|OMIM:615752 http://identifiers.org/omim/615752|UMLS:C3810405 http://purl.obolibrary.org/obo/MONDO_0014333 polymicrogyria, bilateral perisylvian, autosomal recessive; BPPR|BPPR|Pmgr|polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0016995 familial multiple meningioma biolink:Disease mondo UMLS:CN202309|ICD10:D32.9|Orphanet:263662 Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. ORPHA:263662|UMLS:CN202309 http://purl.obolibrary.org/obo/MONDO_0016995 ordo_disease HGNC:11119 SMO biolink:OntologyClass mondo http://identifiers.org/hgnc/11119 MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 biolink:Disease mondo UMLS:C4014261|DOID:0080029|Orphanet:412057|ICD10:G11.1|OMIM:615768 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene. http://identifiers.org/omim/615768|ORPHA:412057|DOID:0080029|UMLS:C4014261 http://purl.obolibrary.org/obo/MONDO_0014339 spinocerebellar ataxia, autosomal recessive type 16|spinocerebellar ataxia autosomal recessive type 16|STUB1 autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 16; SCAR16|spinocerebellar ataxia, autosomal recessive 16|autosomal recessive cerebellar ataxia due to STUB1 deficiency|autosomal recessive cerebellar ataxia caused by mutation in STUB1|autosomal recessive spinocerebellar ataxia type 16|SCAR16 ordo_disease MONDO:0016996 NK-cell enteropathy biolink:Disease mondo Orphanet:263665|UMLS:C4509932|ICD10:K63.8|SCTID:723496007 Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma. ORPHA:263665|SNOMEDCT:723496007|UMLS:C4509932 http://purl.obolibrary.org/obo/MONDO_0016996 ordo_disease HGNC:11118 SMN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11118 MONDO:0014338 IL21-related infantile inflammatory bowel disease biolink:Disease mondo Orphanet:477661|UMLS:C4014258|OMIM:615767 http://identifiers.org/omim/615767|UMLS:C4014258|ORPHA:477661 http://purl.obolibrary.org/obo/MONDO_0014338 immunodeficiency, common variable, 11|immunodeficiency, common variable, type 11|IL21-related infantile IBD|CVID11|immunodeficiency, common variable, 11; CVID11|IL21 deficiency ordo_disease MONDO:0016997 obsolete hereditary epidermolysis bullosa associated with ocular features biolink:Disease mondo Orphanet:263676 ORPHA:263676 http://purl.obolibrary.org/obo/MONDO_0016997 ordo_group_of_disorders HGNC:11117 SMN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11117 MONDO:0014337 complex cortical dysplasia with other brain malformations 5 biolink:Disease mondo OMIM:615763|UMLS:C3810407|DOID:0090135 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene. http://identifiers.org/omim/615763|UMLS:C3810407|DOID:0090135 http://purl.obolibrary.org/obo/MONDO_0014337 cortical dysplasia, complex, with other brain malformations 5; CDCBM5|TUBB2A complex cortical dysplasia with other brain malformations|cortical dysplasia, complex, with other brain malformations 5|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A|complex cortical dysplasia with other brain malformations type 5|cortical dysplasia, Complex, with Other brain malformations type 5|CDCBM5 MONDO:0016998 complex chromosomal rearrangement biolink:Disease mondo Orphanet:263708 ORPHA:263708 http://purl.obolibrary.org/obo/MONDO_0016998 ordo_group_of_disorders MONDO:0016991 acute necrotizing encephalopathy of childhood biolink:Disease mondo Orphanet:263524|SCTID:763310000|ICD10:G31.8 Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. SNOMEDCT:763310000|ORPHA:263524 http://purl.obolibrary.org/obo/MONDO_0016991 isolated acute necrotizing encephalopathy|ANEC|isolated ANE ordo_disease MONDO:0016992 peeling skin syndrome type B biolink:Disease mondo UMLS:CN202306|ICD10:Q80.8|Orphanet:263553 Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy. UMLS:CN202306|ORPHA:263553 http://purl.obolibrary.org/obo/MONDO_0016992 PSS type B|generalized deciduous skin type B|generalized peeling skin syndrome type B|inflammatory peeling skin syndrome ordo_clinical_subtype HGNC:13771 SOST biolink:OntologyClass mondo http://identifiers.org/hgnc/13771 MONDO:0016993 generalized peeling skin syndrome type C biolink:Disease mondo Orphanet:263558|UMLS:CN202307|ICD10:Q80.8 ORPHA:263558|UMLS:CN202307 http://purl.obolibrary.org/obo/MONDO_0016993 peeling skin syndrome type C|generalized deciduous skin type C ordo_clinical_subtype MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III biolink:Disease mondo UMLS:CN202308|GARD:0005120|SCTID:725461009|ICD10:Q87.1|Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. UMLS:CN202308|ORPHA:2636|SNOMEDCT:725461009 http://purl.obolibrary.org/obo/MONDO_0016994 MOPD 1|Cephaloskeletal dysplasia|primordial microcephalic dwarfism, Crachami type|microcephalic osteodysplastic primordial dwarfism type 1|Brachymelic primordial dwarfism|osteodysplastic primordial dwarfism type I|MOPD types I and III|Taybi-Linder syndrome|microcephalic osteodysplastic primordial dwarfism types 1 and 3|microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type|low-birth-weight dwarfism with skeletal dysplasia ordo_malformation_syndrome|gard_rare MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency biolink:Disease mondo ICD10:E74.8|GARD:0013201|Orphanet:401948|OMIM:615751|UMLS:C3810404|SCTID:764456001 http://identifiers.org/omim/615751|UMLS:C3810404|ORPHA:401948|SNOMEDCT:764456001 http://purl.obolibrary.org/obo/MONDO_0014332 carbonic anhydrase VA deficiency, hyperammonemia due to|carbonic anhydrase VA deficiency|CA-VA deficiency|hyperammonemia due to carbonic anhydrase VA deficiency|carbonic anhydrase 5A deficiency, hyperammonemia due to|carbonic anhydrase VA deficiency, hyperammonemia due to; CA5AD|CA5AD|mitochondrial carbonic anhydrase va deficiency ordo_disease HGNC:11111 SMC1A biolink:OntologyClass mondo http://identifiers.org/hgnc/11111 MONDO:0014331 Moyamoya disease with early-onset achalasia biolink:Disease mondo Orphanet:401945|ICD10:I67.5|UMLS:C3810403|OMIM:615750|SCTID:718551002 Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. http://identifiers.org/omim/615750|UMLS:C3810403|ORPHA:401945|SNOMEDCT:718551002 http://purl.obolibrary.org/obo/MONDO_0014331 Moyamoya disease 6 with achalasia|MYMY6|Moyamoya disease 6 with achalasia; MYMY6 ordo_disease HGNC:11110 ARID1A biolink:OntologyClass mondo http://identifiers.org/hgnc/11110 MONDO:0014330 obsolete eculizumab, poor response to biolink:Disease mondo UMLS:C3810402|OMIM:615749 http://identifiers.org/omim/615749|UMLS:C3810402 http://purl.obolibrary.org/obo/MONDO_0014330 eculizumab, poor response to MONDO:0016990 acquired prothrombin deficiency biolink:Disease mondo SCTID:4152002|MESH:C538174|GARD:0000475|ICD10:D68.4|UMLS:C0392610|NCIT:C131622|Orphanet:26348 An instance of prothrombin deficiency that is acquired during the lifetime of the individual. UMLS:C0392610|MESH:C538174|SNOMEDCT:4152002|ORPHA:26348|NCIT:C131622 http://purl.obolibrary.org/obo/MONDO_0016990 hypoprothrombinemia, acquired|acquired factor II deficiency|acquired prothrombin deficiency|acquired hypoprothrombinemia ordo_disease HGNC:25843 ZNF750 biolink:OntologyClass mondo http://identifiers.org/hgnc/25843 NCBITaxon:34064 Francisellaceae organism taxon mondo PMID:16280474|PMID:26747442|GC_ID:11|PMID:22939414 http://purl.obolibrary.org/obo/NCBITaxon_34064 Francisella group NCBITaxon:85653 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_85653 UBERON:0001668 cerebellar vein biolink:AnatomicalEntity mondo A vein that drains the cerebellum. http://purl.obolibrary.org/obo/UBERON_0001668 epencephalon-1 vein|cerebellum vein|vein of cerebellum|vein of epencephalon-1 CHEBI:26666 short-chain fatty acid biolink:ChemicalSubstance mondo An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. http://purl.obolibrary.org/obo/CHEBI_26666 SCFAs|short-chain fatty acids|SCFA NCBITaxon:2759 Eukaryota organism taxon mondo PMID:30257078|PMID:23020233|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2759 Eucaryotae|eukaryotes|Eucarya|eukaryotes|Eukaryotae|Eukarya|eucaryotes HGNC:11201 SOX5 biolink:OntologyClass mondo http://identifiers.org/hgnc/11201 NCBITaxon:10090 Mus musculus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10090 mouse|house mouse HGNC:11204 SOX9 biolink:OntologyClass mondo http://identifiers.org/hgnc/11204 UBERON:0001675 trigeminal ganglion biolink:AnatomicalEntity mondo The cranial ganglion that is associated with and extends fibers into the trigeminal nerve. http://purl.obolibrary.org/obo/UBERON_0001675 trigeminal V ganglion|fused trigeminal ganglion|trigeminus ganglion|ganglion of trigeminal nerve|trigeminal ganglia|Gasserian ganglion|Gasserian ganglia|ganglion trigeminale|ganglion of trigeminal complex|gV|ganglion semilunare|Gasser's ganglion|fifth ganglion|semilunar ganglion|5th ganglion UBERON:0001677 sphenoid bone biolink:AnatomicalEntity mondo An unpaired bone situated at the base of the skull in front of the temporal bone and basilar part of the occipital bone. The sphenoid bone is one of the seven bones that articulate to form the orbit. Its shape somewhat resembles that of a butterfly or bat with its wings extended. http://purl.obolibrary.org/obo/UBERON_0001677 os sphenoidum|sphenoid|os sphenoidale|sphenoidal bone|sphenoid complex|butterfly bone|os sphenoidale HGNC:25839 GRHL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/25839 UBERON:0001676 occipital bone biolink:AnatomicalEntity mondo the bone at the lower, posterior part of the skull http://purl.obolibrary.org/obo/UBERON_0001676 os occipitale|occipital squama|occipital complex HGNC:13861 LZTS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13861 UBERON:0001673 central retinal vein biolink:AnatomicalEntity mondo The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001673 retinal vein|vena centralis retinae MONDO:0004801 unilateral hypoactive labyrinth biolink:Disease mondo DOID:9496|ICD9:386.53|UMLS:C0155517 UMLS:C0155517|DOID:9496 http://purl.obolibrary.org/obo/MONDO_0004801 CHEBI:75603 EC 6.* (ligase) inhibitor biolink:ChemicalSubstance mondo Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. http://purl.obolibrary.org/obo/CHEBI_75603 ligase inhibitor|EC 6.*.*.* inhibitor|EC 6.* (ligase) inhibitors|EC 6.*.*.* inhibitors|ligase inhibitors|EC 6.* inhibitor|EC 6.* inhibitors MONDO:0004800 chronic dacryoadenitis biolink:Disease mondo DOID:949|COHD:376416|SCTID:4760008|UMLS:C0155224|ICD10:H04.02|ICD9:375.02 Chronic form of dacryoadenitis. SNOMEDCT:4760008|DOID:949|UMLS:C0155224 http://purl.obolibrary.org/obo/MONDO_0004800 dacryoadenitis, chronic MONDO:0004803 disseminated eosinophilic collagen disease biolink:Disease mondo SCTID:423486005|UMLS:C0263662|ICD9:710.8|DOID:9499 SNOMEDCT:423486005|UMLS:C0263662|DOID:9499 http://purl.obolibrary.org/obo/MONDO_0004803 CHEBI:75600 EC 6.3.* (C-N bond-forming ligase) inhibitor biolink:ChemicalSubstance mondo A ligase inhibitor that interferes with the action of a C-N bond-forming ligase (EC 6.3.*.*). http://purl.obolibrary.org/obo/CHEBI_75600 C-N bond-forming ligase inhibitors|EC 6.3.* inhibitor|C-N bond-forming ligase (EC 6.3.*) inhibitor|EC 6.3.* (C-N bond-forming ligase) inhibitorS|EC 6.3.*.* inhibitor|C--N bond-forming ligase inhibitor|C--N bond-forming ligase inhibitors|EC 6.3.*.* inhibitors|C-N bond-forming ligase (EC 6.3.*) inhibitors|EC 6.3.* inhibitors|C-N bond-forming ligase inhibitor MONDO:0004802 pulmonary eosinophilia biolink:Disease mondo MESH:D011657|SCTID:367542003|UMLS:C0034068|ICD9:518.3|DOID:9498 A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents. MESH:D011657|UMLS:C0034068|SNOMEDCT:367542003|DOID:9498 http://purl.obolibrary.org/obo/MONDO_0004802 NCBITaxon:1933309 Oropouche orthobunyavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1933309 CHEBI:26677 silicon molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26677 silicon compounds|silicon molecular entities|silicon molecular entity UBERON:0013645 gular gland biolink:AnatomicalEntity mondo A gland that is part of the gular region (throat) http://purl.obolibrary.org/obo/UBERON_0013645 HGNC:11212 SPAG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11212 UBERON:0013636 epithelium of intestinal villus biolink:AnatomicalEntity mondo A epithelium that is part of a intestinal villus. http://purl.obolibrary.org/obo/UBERON_0013636 villous epithelium|villus epithelium|intestinal villus epithelium UBERON:0013637 prostate gland lateral lobe biolink:AnatomicalEntity mondo The prostate gland lobe that is located on the lateral side of the organ. http://purl.obolibrary.org/obo/UBERON_0013637 lateral prostate|lateral ventral lobe of prostate gland|lateral lobe of prostate gland|lateral lobe of prostate HGNC:13875 FOXP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/13875 UBERON:0001663 cerebral vein biolink:AnatomicalEntity mondo The cerebral veins are divisible into external and internal groups according to the outer surfaces or the inner parts of the hemispheres they drain into. The external veins are the superior cerebral veins, inferior cerebral veins, and middle cerebral vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001663 venae cerebri|venae encephali UBERON:0001665 triceps surae biolink:AnatomicalEntity mondo The triceps surae is a pair of muscles located at the calf - the gastrocnemius and the soleus. These muscles both insert into the calcaneus, the bone of the heel of the human foot, and form the major part of the muscle of the back part of the lower leg, commonly known as the calf muscle. The triceps surae is connected to the foot through the Achilles tendon, and has 3 heads deriving from the 2 major masses of muscle. The superficial portion (the gastrocnemius) gives off 2 heads attaching to the base of the femur directly above the knee. The deep (profundis) mass of muscle (the soleus) forms the remaining head which attaches to the superior posterior area of the tibia. The triceps surae is innervated by the tibial nerve, specifically, nerve roots L5-S2. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001665 gastrosoleus|sural triceps|gastrosoleus complex|calf muscle|musculus triceps surae HGNC:13872 RIPOR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/13872 UBERON:0001649 glossopharyngeal nerve biolink:AnatomicalEntity mondo Cranial nerve that branches into the ramus communicans (to the skin), the pretrematic (to the walls of the pharynx and mouth, viscero-sensory fibers), and the larval post-trematic branch (lost in the adult). http://purl.obolibrary.org/obo/UBERON_0001649 CN-IX|9n|ninth cranial nerve|glossopharyngeal nerve tree|cranial nerve IX|nervus glossopharyngeus|glossopharyngeal IX|nervus glossopharyngeus|nerve IX|glossopharyngeal nerve [IX]|nervus glossopharyngeus [ix]|glossopharyngeal IX nerve UBERON:0001646 abducens nerve biolink:AnatomicalEntity mondo Cranial nerve that runs to the eye muscles. http://purl.obolibrary.org/obo/UBERON_0001646 nervus abducens|abducent nerve [VI]|abducens nerve tree|abducens nerve/root|sixth cranial nerve|lateral rectus nerve|abducens VI nerve|nerve VI|nervus abducens|CN-VI|abducent nerve|abducents VI nerve|nervus abducens [VI]|6n|cranial nerve VI|abducens nerve [VI] UBERON:0001645 trigeminal nerve biolink:AnatomicalEntity mondo Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw). http://purl.obolibrary.org/obo/UBERON_0001645 trigeminal V|fifth cranial nerve|nervus trigeminus|trigeminal v nerve|cranial nerve V|trigeminus|trigeminal nerve [V]|trigeminal nerve tree|nervus trigeminus [v]|CN-V|5n|nervus trigeminus|nerve V UBERON:0001648 vestibulocochlear nerve biolink:AnatomicalEntity mondo Cranial nerve that transmits sound and equilibrium (balance) information from the inner ear to the brain. http://purl.obolibrary.org/obo/UBERON_0001648 eighth cranial nerve|vestibulocochlear nerve [VIII]|8n|acoustic VIII nerve|vestibulocochlear nerve tree|acoustic nerve (Crosby)|VIIIth cranial nerve|nervus vestibulocochlearis|nervus octavus|octaval nerve|CN-VIII|statoacoustic nerve|vestibulocochlear VIII nerve|nervus statoacusticus|nervus vestibulocochlearis [viii]|cranial nerve VIII|cochleovestibular nerve|stato-acoustic nerve|cochlear-vestibular nerve|VIII nerve|acoustic nerve UBERON:0001647 facial nerve biolink:AnatomicalEntity mondo Cranial nerve that branches into the supraorbital (supplying the skin of the eye region and the lateral line organs here), the palatine (to the roof of the buccal cavity), and the hyomandibular (dividing into the jugular and mental branches). http://purl.obolibrary.org/obo/UBERON_0001647 nerve VII|nervus facialis|facial nerve or its root|facial nerve tree|facial nerve [VII]|face nerve|facial nerve/root|cranial nerve VII|seventh cranial nerve|facial VII|nerve of face|CN-VII|nervus facialis [vii]|branchiomeric cranial nerve|nervus facialis|7n|facial VII nerve UBERON:0013631 sesamoid element biolink:AnatomicalEntity mondo Ossicle that develops within bands of dense, regular connective tissue (e.g., tendons and ligaments). Sesamoids are generally located proximate to a bony prominence, over which the dense regular connective tissue wraps, and/or a joint or articulation. http://purl.obolibrary.org/obo/UBERON_0013631 sesamoid UBERON:0013632 sesamoid cartilage biolink:AnatomicalEntity mondo A sesamoid element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0013632 cartilago sesamoidea|sesamoid cartilage of cricopharyngeal ligament UBERON:0013630 short bone biolink:AnatomicalEntity mondo Short bones are designated as those bones that are as wide as they are long. Their primary function is to provide support and stability with little to no movement. They are one of five types of bones: long, short, flat, irregular and sesamoid. Examples of these bones include the tarsals in the foot and the carpals in the hand. http://purl.obolibrary.org/obo/UBERON_0013630 HGNC:13841 ADGRG6 biolink:OntologyClass mondo http://identifiers.org/hgnc/13841 UBERON:0001653 facial vein biolink:AnatomicalEntity mondo The anterior facial vein (facial vein) commences at the side of the root of the nose, and is a direct continuation of the angular vein where it also receives a small nasal branch. It lies behind the facial artery and follows a less tortuous course. It receives blood from the external palatine vein before it either joins the anterior branch of the retromandibular vein to form the common facial vein, or drains directly into the internal jugular vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001653 face vein|vena facialis anterior|anterior facial vein|vein of face UBERON:0001652 left pulmonary artery biolink:AnatomicalEntity mondo The pulmonary artery that supplies the left lung. http://purl.obolibrary.org/obo/UBERON_0001652 left pulmonary arterial tree|left main pulmonary artery|arteria pulmonalis sinistra UBERON:0001651 right pulmonary artery biolink:AnatomicalEntity mondo The pulmonary artery that supplies the right lung. http://purl.obolibrary.org/obo/UBERON_0001651 arteria pulmonalis dextra|right main pulmonary artery|right pulmonary arterial tree UBERON:0001650 hypoglossal nerve biolink:AnatomicalEntity mondo Cranial nerve that innervates the muscles of the tongue. http://purl.obolibrary.org/obo/UBERON_0001650 twelfth cranial nerve|12n|CN-XII|nervus hypoglossus [xii]|hypoglossal nerve tree|hypoglossal nerve [XII]|hypoglossal nerve/ root|nerve XII|hypoglossal XII|nervus hypoglossus|cranial nerve XII|nervi hypoglossalis|hypoglossal XII nerve NCBITaxon:10088 Mus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10088 mice|mouse|Mus UBERON:0001638 vein biolink:AnatomicalEntity mondo Any of the tubular branching vessels that carry blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/UBERON_0001638 vena|venous vessel|vascular element|venous tree organ part|venous subtree|venae UBERON:0001635 superior cerebellar artery biolink:AnatomicalEntity mondo The superior cerebellar artery (SCA) arises near the termination of the basilar artery. It passes lateralward, immediately below the oculomotor nerve, which separates it from the posterior cerebral artery, winds around the cerebral peduncle, close to the trochlear nerve, and, arriving at the upper surface of the cerebellum, divides into branches which ramify in the pia mater and anastomose with those of the inferior cerebellar arteries. Several branches are given to the pineal body, the anterior medullary velum, and the tela chorioidea of the third ventricle. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001635 arteria superior cerebelli UBERON:0001637 artery biolink:AnatomicalEntity mondo An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. http://purl.obolibrary.org/obo/UBERON_0001637 arterial vessel|arterial tree organ part|arteries|arterial system|arterial subtree UBERON:0001636 posterior cerebral artery biolink:AnatomicalEntity mondo The posterior cerebral artery (PCA) is one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain in human anatomy]. It arises near the intersection of the posterior communicating artery and the basilar artery and connects with the ipsilateral middle cerebral artery (MCA) and internal carotid artery via the posterior communicating artery (PCommA). [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001636 arteria cerebri posterior CHEBI:38633 sodium channel blocker biolink:ChemicalSubstance mondo An agent that inhibits sodium influx through cell membranes. http://purl.obolibrary.org/obo/CHEBI_38633 Na channel blocker|sodium channel blockers CHEBI:38632 membrane transport modulator biolink:ChemicalSubstance mondo Any agent that affects the transport of molecular entities across a biological membrane. http://purl.obolibrary.org/obo/CHEBI_38632 membrane transport modulators UBERON:0001641 transverse sinus biolink:AnatomicalEntity mondo one of the dural venous sinuses and drains the superior sagittal sinus the occipital sinus and the straight sinus, and empties into the sigmoid sinus which in turn reaches the jugular bulb. http://purl.obolibrary.org/obo/UBERON_0001641 lateral sinus|sinus transversus|transverse sinus|transverse sinus vein|groove for right and left transverse sinuses|sinus transversus durae matris UBERON:0001644 trochlear nerve biolink:AnatomicalEntity mondo A cranial nerve that runs to the eye muscles. http://purl.obolibrary.org/obo/UBERON_0001644 CN-IV|trochlear IV nerve|trochlear nerve tree|pathetic nerve|nervus trochlearis [IV]|trochlear nerve/root|4n|nervus trochlearis|nerve IV|fourth cranial nerve|trochlear nerve or its root|superior oblique nerve|trochlear|trochlear nerve [IV]|cranial nerve IV UBERON:0001643 oculomotor nerve biolink:AnatomicalEntity mondo Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. http://purl.obolibrary.org/obo/UBERON_0001643 third cranial nerve|occulomotor|cranial nerve III|oculomotor III nerve|oculomotor nerve tree|CN-III|nervus oculomotorius|3n|nervus oculomotorius [III]|nerve III|oculomotor nerve or its root|oculomotor nerve [III]|oculomotor III UBERON:0001640 celiac artery biolink:AnatomicalEntity mondo The first major branch of the abdominal aorta. http://purl.obolibrary.org/obo/UBERON_0001640 coeliac trunk|arteria cœliaca|coeliac axis|coeliac trunck|coeliac artery|celiac trunk|truncus cœliacus|celiac tree|arteria coeliaca|truncus coeliacus MONDO:0004834 ischemic fasciitis biolink:Disease mondo NCIT:C6483|DOID:9601|SCTID:403990005|UMLS:C1304514 A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative. NCIT:C6483|SNOMEDCT:403990005|DOID:9601|UMLS:C1304514 http://purl.obolibrary.org/obo/MONDO_0004834 atypical decubital fibroplasia MONDO:0004833 plantar fasciitis biolink:Disease mondo MESH:D036981|EFO:1001909|ICD10:M72.2|DOID:9600|COHD:4002650|UMLS:C0149756|SCTID:202882003 Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related. SNOMEDCT:202882003|MESH:D036981|DOID:9600|UMLS:C0149756 http://purl.obolibrary.org/obo/MONDO_0004833 MONDO:0004836 intravascular fasciitis biolink:Disease mondo NCIT:C4729|DOID:9603|SCTID:254738007|UMLS:C0432529|ICD9:728.79 A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. SNOMEDCT:254738007|UMLS:C0432529|DOID:9603|NCIT:C4729 http://purl.obolibrary.org/obo/MONDO_0004836 intravascular pseudosarcomatous fasciitis|intravascular nodular fasciitis MONDO:0004835 necrotizing fasciitis biolink:Disease mondo MESH:D019115|COHD:133566|ICD9:728.86|DOID:9602|ICD10:M72.6|GARD:0006454|UMLS:C0238124|NCIT:C84916|SCTID:52486002 Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue. MESH:D019115|DOID:9602|NCIT:C84916|UMLS:C0238124|SNOMEDCT:52486002 http://purl.obolibrary.org/obo/MONDO_0004835 gard_rare MONDO:0004830 fasciitis (disease) biolink:Disease mondo HP:0100537|NCIT:C50559|DOID:9598|UMLS:C0015645|MESH:D005208|ICD10:M72.9|COHD:133569|ICD9:729.4|SCTID:36948007 Inflammation process in fascia. SNOMEDCT:36948007|NCIT:C50559|MESH:D005208|DOID:9598|UMLS:C0015645 http://purl.obolibrary.org/obo/MONDO_0004830 Fascitis|fasciitis|fascia inflammation|inflammation of fascia MONDO:0004832 esophagus leiomyoma biolink:Disease mondo DOID:960|UMLS:C0238114|NCIT:C3866|SCTID:276805005 A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom. DOID:960|SNOMEDCT:276805005|UMLS:C0238114|NCIT:C3866 http://purl.obolibrary.org/obo/MONDO_0004832 esophagus leiomyoma|leiomyoma of the esophagus|leiomyoma of esophagus|esophageal leiomyoma MONDO:0004831 proliferative fasciitis biolink:Disease mondo UMLS:C0432528|DOID:9599|SCTID:254737002|NCIT:C4728 A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize. SNOMEDCT:254737002|UMLS:C0432528|DOID:9599|NCIT:C4728 http://purl.obolibrary.org/obo/MONDO_0004831 HGNC:25801 CPLANE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25801 UBERON:0013697 exocrine pancreas epithelium biolink:AnatomicalEntity mondo Epithelium lining the exocrine pancreas. http://purl.obolibrary.org/obo/UBERON_0013697 exocrine pancreas epithelial cell|epithelium of exocrine pancreas UBERON:0013699 strand of axillary hair biolink:AnatomicalEntity mondo A strand of hair that is part of a axilla. http://purl.obolibrary.org/obo/UBERON_0013699 axillary hair|hair of axilla|axilla hair HGNC:13815 BCO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13815 MONDO:0016816 Leigh syndrome with nephrotic syndrome biolink:Disease mondo Orphanet:255249|ICD10:G31.8|UMLS:CN202084 ORPHA:255249|UMLS:CN202084 http://purl.obolibrary.org/obo/MONDO_0016816 Leigh disease with nephrotic syndrome|infantile subacute necrotizing encephalopathy with nephrotic syndrome ordo_disease MONDO:0016817 Meier-Gorlin syndrome biolink:Disease mondo MESH:C538012|MedDRA:10070612|GARD:0002033|OMIMPS:224690|Orphanet:2554|ICD10:Q87.1|DOID:0060306 Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). MEDDRA:10070612|ORPHA:2554|UMLS:C1868684|DOID:0060306|MESH:C538012 http://purl.obolibrary.org/obo/MONDO_0016817 ear-patella-short stature syndrome|Meier-Gorlin syndrome ordo_malformation_syndrome UBERON:0013694 brain endothelium biolink:AnatomicalEntity mondo Vascular endothelium found in blood vessels of the blood-brain-barrier. http://purl.obolibrary.org/obo/UBERON_0013694 cerebromicrovascular endothelium UBERON:0013695 colon endothelium biolink:AnatomicalEntity mondo Vascular endothelium found in colon blood vessels. http://purl.obolibrary.org/obo/UBERON_0013695 colorectal endothelium|colorectal endothelial cell|colon endothelial cell|colonic endothelium|colon endothelial cells|colonic endothelial cell MONDO:0016818 Mikati-Najjar-Sahli syndrome biolink:Disease mondo Orphanet:2558|ICD10:E22.8|UMLS:CN202088 Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). ORPHA:2558|UMLS:CN202088 http://purl.obolibrary.org/obo/MONDO_0016818 microcephaly-hypergonadotropic hypogonadism-short stature syndrome ordo_malformation_syndrome UBERON:0013696 tonsil epithelium biolink:AnatomicalEntity mondo The epithelium that forms the surface of the tonsil dips into the underlying connective tissue in numerous places, forming crypts kown as tonsillar crypts. Stratified squamous epithelium, that may be heavily infiltrated by lymphocytes. Epithelial cells are present in the germinal as well as in the periphery of the nodule. http://purl.obolibrary.org/obo/UBERON_0013696 epithelium of tonsil|tonsil epithelial cell MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome biolink:Disease mondo UMLS:C2931024|Orphanet:2560 This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. ORPHA:2560|UMLS:C2931024 http://purl.obolibrary.org/obo/MONDO_0016819 ordo_malformation_syndrome HGNC:13818 SLC12A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/13818 MONDO:0016823 mycetoma biolink:Disease mondo SCTID:410039003|ICD10:B47|NCIT:C85505|ICD10:B47.9|MESH:D008271|Orphanet:2583|UMLS:C0024449|MedDRA:10028427|ICD10:B47.1|ICD10:B47.0|GARD:0003862 Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains. MESH:D008271|SNOMEDCT:410039003|UMLS:C0024449|MEDDRA:10028427|NCIT:C85505|ORPHA:2583 http://purl.obolibrary.org/obo/MONDO_0016823 Madura foot ordo_disease MONDO:0016824 myofibromatosis biolink:Disease mondo ICDO:8824/1|MESH:D018224|OMIMPS:228550|UMLS:C0206648|ONCOTREE:IMS|DOID:0080109|Orphanet:2591|NCIT:C3742|ICD10:D48.1|GARD:0002998 A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. UMLS:C0206648|UMLS:C0432284|MESH:D018224|NCIT:C3742|ORPHA:2591|DOID:0080109 http://purl.obolibrary.org/obo/MONDO_0016824 myofibromatosis|infantile hemangiopericytoma|infantile myofibromatosis|multicentric myofibromatosis|IMS gard_rare|ordo_disease MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome biolink:Disease mondo Orphanet:2597|MESH:C537476|ICD10:G71.3|GARD:0003682|OMIM:251950 Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. MESH:C537476|UMLS:C1855033|http://identifiers.org/omim/251950|ORPHA:2597 http://purl.obolibrary.org/obo/MONDO_0016825 mitochondrial myopathy with lactic acidosis|mitochondrial myopathy-lactic acidosis-hearing loss syndrome|MMLA|mitochondrial myopathy with lactic acidosis; MMLA|metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness gard_rare|ordo_disease MONDO:0016826 methylmalonic acidemia with homocystinuria biolink:Disease mondo ICD10:E71.1|Orphanet:26|GARD:0003579|DC:0000274|MESH:C537359 Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). MESH:C537359|ORPHA:26|UMLS:C1848561 http://purl.obolibrary.org/obo/MONDO_0016826 combined defect in adenosylcobalamin and methylcobalamin synthesis|methylmalonic aciduria with homocystinuria|methylmalonic acidemia and homocystinemia ordo_disease|gard_rare HGNC:13825 ASPSCR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/13825 MONDO:0016820 Moyamoya disease biolink:Disease mondo MESH:D009072|COHD:378774|ICD9:437.5|SCTID:89142007|GARD:0007064|Orphanet:2573|DOID:13099|NCIT:C84895|ICD10:I67.5|UMLS:C0026654|OMIMPS:252350|MedDRA:10028047 Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. DOID:13099|SNOMEDCT:89142007|MEDDRA:10028047|MESH:C536991|UMLS:C2931384|NCIT:C84895|MESH:D009072|ORPHA:2573|UMLS:C0026654 http://purl.obolibrary.org/obo/MONDO_0016820 progressive intracranial arterial occlusion|MYMY|Moyamoya disease, secondary|Moyamoya disease, primary|idiopathic Moyamoya disease ordo_disease MONDO:0016821 shoulder and girdle defects-familial intellectual disability syndrome biolink:Disease mondo UMLS:CN227007|GARD:0004860|ICD10:Q87.2|Orphanet:2580 UMLS:CN227007|ORPHA:2580 http://purl.obolibrary.org/obo/MONDO_0016821 shoulder girdle defect mental retardation familial|shoulder girdle defect intellectual disability familial ordo_malformation_syndrome MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan biolink:Disease mondo Orphanet:2582|ICD10:M35.8|MedDRA:10014952 Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities. UMLS:C1275050|MESH:D016603|MEDDRA:10014952|ORPHA:2582 http://purl.obolibrary.org/obo/MONDO_0016822 ordo_malformation_syndrome MONDO:0004827 esophagus squamous cell papilloma biolink:Disease mondo DOID:959|UMLS:C1333467|NCIT:C5344 A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare. UMLS:C1333467|DOID:959|NCIT:C5344 http://purl.obolibrary.org/obo/MONDO_0004827 squamous cell papilloma of the esophagus|squamous cell papilloma of esophagus|esophageal squamous papilloma|esophagus squamous papilloma|esophagus squamous cell papilloma MONDO:0004826 urethral calculus biolink:Disease mondo SCTID:20342001|ICD10:N21.1|ICD9:594.2|DOID:9589|UMLS:C0162301 A concretion in the urethra. UMLS:C0162301|DOID:9589|NCIT:C26995|SNOMEDCT:20342001 http://purl.obolibrary.org/obo/MONDO_0004826 urolithiasis of urethra|urethral Stone|urethra urolithiasis MONDO:0004829 Krukenberg carcinoma biolink:Disease mondo NCIT:C3153|UMLS:C0022790|MESH:D007725|SCTID:359987004|GARD:0008627|DOID:9597|EFO:1000316 Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast. MESH:D007725|DOID:9597|UMLS:C0022790|SNOMEDCT:359987004|NCIT:C3153 http://purl.obolibrary.org/obo/MONDO_0004829 Krukenberg tumor|Krukenberg’s tumor|Krukenberg neoplasm MONDO:0004828 lower urinary tract calculus biolink:Disease mondo COHD:197028|DOID:9590|ICD9:594|ICD9:594.9|ICD9:594.8|SCTID:79509009|ICD10:N21|ICD10:N21.9|UMLS:C0156264 A urolithiasis that involves the lower urinary tract. UMLS:C0156264|SNOMEDCT:79509009|DOID:9590 http://purl.obolibrary.org/obo/MONDO_0004828 urolithiasis of lower urinary tract|lower urinary tract urolithiasis MONDO:0004845 aphthous stomatitis biolink:Disease mondo GARD:0005834|DOID:9663|ICD9:528.2 A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. DOID:9663 http://purl.obolibrary.org/obo/MONDO_0004845 aphthous ulceration|oral ulcer|oral aphthous ulcer|oral aphthae|aphtha|canker sore gard_rare MONDO:0004844 oral mucosa leukoplakia biolink:Disease mondo SCTID:414603003|NCIT:C3187|GARD:0007260|UMLS:C0023532|MESH:D007972|DOID:9655|COHD:138466|ICD9:528.6|ICD10:K13.21|ICD10:K13.2 A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. MESH:D007972|UMLS:C0023532|SNOMEDCT:414603003|DOID:9655|NCIT:C3187 http://purl.obolibrary.org/obo/MONDO_0004844 leukokeratosis of oral mucosa|leukoplakia of the oral mucosa|leukoplakia of oral mucosa|oral leukoplakia|oral keratoses|oral keratosis MONDO:0004847 senile cataract biolink:Disease mondo DOID:9669|ICD9:366.1|ICD10:H25|ICD9:366.10|SCTID:39450006|NCIT:C35012 A cataract with no obvious cause occurring in persons over 50 years old. SNOMEDCT:39450006|DOID:9669|NCIT:C35012 http://purl.obolibrary.org/obo/MONDO_0004847 MONDO:0004846 placental abruption (disease) biolink:Disease mondo NCIT:C26685|ICD10:O20.0|DOID:9667|ICD9:640.03|ICD9:640.0|MESH:D000037|EFO:1001754|HP:0011419|ICD9:641.20|SCTID:415105001 Vaginal bleeding preceding the 20th week of gestation. SNOMEDCT:415105001|NCIT:C26685|DOID:9667|NCIT:C112857|MESH:D000037 http://purl.obolibrary.org/obo/MONDO_0004846 placental abruption|Abruptio placentae, premature separation of placenta|abruptio placenta|abruptio placentae|premature separation of placenta MONDO:0004841 kidney hypertrophy biolink:Disease mondo ICD9:593.1|DOID:9622|SCTID:88531004|COHD:192686|NCIT:C122991|UMLS:C0156259|ICD10:N28.81 Global enlargement of the renal parenchyma in one or both kidneys. UMLS:C0156259|DOID:9622|SNOMEDCT:88531004|NCIT:C122991 http://purl.obolibrary.org/obo/MONDO_0004841 renal Hypertrophy|hypertrophy of the kidney HGNC:25815 CEP63 biolink:OntologyClass mondo http://identifiers.org/hgnc/25815 MONDO:0004840 non-congenital cyst of kidney biolink:Disease mondo DOID:9621|ICD9:593.2|ICD10:N28.1|UMLS:C0268799|SCTID:105999006 DOID:9621|SNOMEDCT:105999006|UMLS:C0268799 http://purl.obolibrary.org/obo/MONDO_0004840 MONDO:0004843 pathologic nystagmus biolink:Disease mondo ICD10:H55.0|MESH:D009759|ICD10:H55.00|DOID:9650|ICD9:379.50|UMLS:C0028738 Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders. DOID:9650|NCIT:C3282|UMLS:C0028738|MESH:D009759 http://purl.obolibrary.org/obo/MONDO_0004843 MONDO:0004842 stomatitis biolink:Disease mondo DOID:9637|MESH:D013280|ICD9:528.0|UMLS:C1568868|EFO:1001904|SCTID:61170000|ICD10:K12.1|COHD:138455|ICD9:528.00|NCIT:C26887|UMLS:C0038362 Inflammation of the oral mucosa due to local or systemic factors. SNOMEDCT:61170000|NCIT:C26887|DOID:9637|MESH:D013280|UMLS:C0038362|UMLS:C1568868 http://purl.obolibrary.org/obo/MONDO_0004842 oral mucositis|inflammation of mouth mucosa|mouth mucosa inflammation|mucositis oral HGNC:25812 SRD5A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/25812 MONDO:0016809 spinocerebellar ataxia with epilepsy biolink:Disease mondo UMLS:CN202060|UMLS:C1843852|Orphanet:254881 UMLS:CN202060|UMLS:C1843852|ORPHA:254881 http://purl.obolibrary.org/obo/MONDO_0016809 SCAE|MSCAE|mitochondrial spinocerebellar ataxia with epilepsy ordo_disease UBERON:0013686 anatomical conduit space biolink:AnatomicalEntity mondo An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. http://purl.obolibrary.org/obo/UBERON_0013686 foramen space UBERON:0013687 pericranium biolink:AnatomicalEntity mondo Periosteum that is part of a skull. http://purl.obolibrary.org/obo/UBERON_0013687 periosteum externum cranii NCBITaxon:85604 Amphiesmenoptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_85604 UBERON:0013689 appendix lymphoid tissue biolink:AnatomicalEntity mondo Lymphoid tissue located in the appendix. http://purl.obolibrary.org/obo/UBERON_0013689 lymphatic tissue of appendix|lymphatic tissue of vermiform appendix|appendix lymphoid MONDO:0016805 isolated oxidative phosphorylation complex disorder biolink:Disease mondo UMLS:CN227005|Orphanet:254846 ORPHA:254846|UMLS:CN227005 http://purl.obolibrary.org/obo/MONDO_0016805 isolated respiratory chain complex disorder ordo_group_of_disorders MONDO:0016806 maternally-inherited mitochondrial dystonia biolink:Disease mondo ICD10:G24.8|UMLS:C4274074|Orphanet:254851|SCTID:717054001 Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. ORPHA:254851|SNOMEDCT:717054001|UMLS:C4274074 http://purl.obolibrary.org/obo/MONDO_0016806 ordo_disease MONDO:0016807 pure mitochondrial myopathy biolink:Disease mondo ICD10:G71.3|Orphanet:254854|UMLS:C4517289|SCTID:732245008 Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes. UMLS:C4517289|SNOMEDCT:732245008|ORPHA:254854 http://purl.obolibrary.org/obo/MONDO_0016807 ordo_disease MONDO:0016808 mitochondrial DNA depletion syndrome, hepatocerebral form biolink:Disease mondo UMLS:CN069134|Orphanet:254871|UMLS:C3711385|MESH:C580039 UMLS:CN069134|UMLS:C3711385|ORPHA:254871|MESH:C580039 http://purl.obolibrary.org/obo/MONDO_0016808 deoxyguanosine kinase deficiency|mtDNA depletion syndrome, hepatocerebral form ordo_group_of_disorders UBERON:0013685 foramen of skull biolink:AnatomicalEntity mondo Anatomical space that is an opening in a bone of the skull. http://purl.obolibrary.org/obo/UBERON_0013685 cranial foramen|cranial conduit|foramina of the skull|foramen of skull HGNC:13829 WNT10A biolink:OntologyClass mondo http://identifiers.org/hgnc/13829 MONDO:0016812 dopa-responsive dystonia biolink:Disease mondo MESH:C538007|NCIT:C116719|ICD10:G24.8|Orphanet:255|GARD:0009817|UMLS:C1851920|SCTID:230332007 Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. ORPHA:255|NCIT:C116719|SNOMEDCT:230332007|MESH:C538007|UMLS:C1851920 http://purl.obolibrary.org/obo/MONDO_0016812 DYT5|DYT-GCH1 (subtype)|DYT-TH (subtype)|Segawa's disease|DYT5 dystonia|hereditary progressive dystonia with diurnal fluctuation|DYT-SPR (subtype)|HPD with diurnal fluctuation ordo_group_of_disorders MONDO:0016813 obsolete microsporidiosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016813 MONDO:0016814 maternally-inherited Leigh syndrome biolink:Disease mondo SCTID:717052002|GARD:0003671|Orphanet:255210|MESH:C536035|ICD10:G31.8 Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. ORPHA:255210|MESH:C536035|UMLS:C2931092|SNOMEDCT:717052002 http://purl.obolibrary.org/obo/MONDO_0016814 maternally-inherited Leigh disease|Leigh disease, maternally inherited|MILS|Subacute necrotizing encephalomyelopathy maternally inherited|mitochondrial DNA-associated Leigh syndrome|maternally inherited Leigh syndrome|maternally-inherited infantile subacute necrotizing encephalopathy ordo_disease MONDO:0016815 Leigh syndrome with leukodystrophy biolink:Disease mondo Orphanet:255241|UMLS:CN202083|ICD10:G31.8 ORPHA:255241|UMLS:CN202083 http://purl.obolibrary.org/obo/MONDO_0016815 infantile subacute necrotizing encephalopathy with leukodystrophy|Leigh disease with leukodystrophy ordo_disease HGNC:13830 CNTNAP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/13830 MONDO:0016810 autosomal recessive progressive external ophthalmoplegia biolink:Disease mondo MESH:C564926|ICD10:H49.4|Orphanet:254886 Autosomal recessive form of progressive external ophthalmoplegia. ORPHA:254886|MESH:C564926 http://purl.obolibrary.org/obo/MONDO_0016810 progressive external ophthalmoplegia, autosomal recessive|arPEO ordo_disease HGNC:13831 WDR11 biolink:OntologyClass mondo http://identifiers.org/hgnc/13831 MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome biolink:Disease mondo UMLS:CN202065|ICD10:E88.8|Orphanet:254902 Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders. ORPHA:254902|UMLS:CN202065 http://purl.obolibrary.org/obo/MONDO_0016811 ordo_disease HGNC:25808 FAM161A biolink:OntologyClass mondo http://identifiers.org/hgnc/25808 MONDO:0004838 orthostatic proteinuria biolink:Disease mondo COHD:74080|DOID:9617|UMLS:C0232867|ICD10:R80.2|ICD9:593.6 DOID:9617|UMLS:C0232867 http://purl.obolibrary.org/obo/MONDO_0004838 postural albuminuria MONDO:0004837 neurofibroma of the esophagus biolink:Disease mondo DOID:961|NCIT:C5704|UMLS:C1333463 A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. DOID:961|NCIT:C5704|UMLS:C1333463 http://purl.obolibrary.org/obo/MONDO_0004837 neurofibroma of the esophagus|esophagus neurofibroma|neurofibroma of esophagus|esophageal neurofibroma MONDO:0004839 obsolete neurofibroma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004839 MONDO:0004812 acute dacryoadenitis biolink:Disease mondo ICD10:H04.01|SCTID:2589008|ICD9:375.01|DOID:952|UMLS:C0149505|COHD:372636 Acute form of dacryoadenitis. DOID:952|SNOMEDCT:2589008|UMLS:C0149505 http://purl.obolibrary.org/obo/MONDO_0004812 dacryoadenitis, acute MONDO:0004811 simple chronic conjunctivitis biolink:Disease mondo COHD:379816|ICD9:372.11|SCTID:8211008|DOID:9512|ICD10:H10.42|UMLS:C0155146 UMLS:C0155146|DOID:9512|SNOMEDCT:8211008 http://purl.obolibrary.org/obo/MONDO_0004811 MONDO:0004814 obsolete vascular skin disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004814 MONDO:0004813 tuberculous pneumothorax biolink:Disease mondo ICD9:011.76|COHD:252235|ICD9:011.73|ICD9:011.72|ICD9:011.7|ICD9:011.71|UMLS:C0152600|DOID:9534|SCTID:29731002|ICD10:A15.0|ICD9:011.70 A pneumothorax in which air enters into the pleural cavity. UMLS:C0152600|SNOMEDCT:29731002|DOID:9534 http://purl.obolibrary.org/obo/MONDO_0004813 CHEBI:26605 saponin biolink:ChemicalSubstance mondo A glycoside that is a compound containing one or more hydrophilic glycoside moieties combined with a lipophilic triterpenoid or steroid derivative. Found in particular abundance in plant species. http://purl.obolibrary.org/obo/CHEBI_26605 sapogenin glycosides|sapogenin glycoside|saponins MONDO:0004810 acute ethmoiditis biolink:Disease mondo DOID:9506|COHD:141056|ICD10:J01.20|ICD10:J01.2|SCTID:67832005|ICD9:461.2|UMLS:C0155806 Acute form of ethmoid sinusitis. SNOMEDCT:67832005|UMLS:C0155806|DOID:9506 http://purl.obolibrary.org/obo/MONDO_0004810 ethmoidal sinus - acute|acute ethmoid sinusitis|acute ethmoidal sinusitis|ethmoid sinusitis, acute MONDO:0016801 mitochondrial substrate carrier disorder biolink:Disease mondo Orphanet:254830|UMLS:CN227002 ORPHA:254830|UMLS:CN227002 http://purl.obolibrary.org/obo/MONDO_0016801 ordo_group_of_disorders MONDO:0016802 mitochondrial protein import disorder biolink:Disease mondo UMLS:CN227003|Orphanet:254834 ORPHA:254834|UMLS:CN227003 http://purl.obolibrary.org/obo/MONDO_0016802 ordo_group_of_disorders UBERON:0001691 external ear biolink:AnatomicalEntity mondo Part of the ear external to the tympanum (eardrum). It typically consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]. http://purl.obolibrary.org/obo/UBERON_0001691 auricular region of head|auricular region|auris externa|outer ear MONDO:0016803 unspecified inborn mitochondrial disorder biolink:Disease mondo UMLS:CN227004|Orphanet:254837 ORPHA:254837|UMLS:CN227004 http://purl.obolibrary.org/obo/MONDO_0016803 unspecified mitochondrial disorder ordo_group_of_disorders MONDO:0016804 exercise intolerance with lactic acidosis biolink:Disease mondo Orphanet:254843 ORPHA:254843 http://purl.obolibrary.org/obo/MONDO_0016804 ordo_group_of_disorders UBERON:0001690 ear biolink:AnatomicalEntity mondo Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. http://purl.obolibrary.org/obo/UBERON_0001690 auditory apparatus|auris GO:0048729 tissue morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of a tissue are generated and organized. http://purl.obolibrary.org/obo/GO_0048729 GO:0061702 inflammasome complex biolink:OntologyClass mondo A cytosolic protein complex that is capable of activating caspase-1. http://purl.obolibrary.org/obo/GO_0061702 MONDO:0016800 mitochondrial membrane transport disorder biolink:Disease mondo UMLS:CN227001|Orphanet:254827 ORPHA:254827|UMLS:CN227001 http://purl.obolibrary.org/obo/MONDO_0016800 ordo_group_of_disorders UBERON:0001697 orbit of skull biolink:AnatomicalEntity mondo Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball. http://purl.obolibrary.org/obo/UBERON_0001697 eye socket|bony orbit|orbit of skull|orbit MONDO:0004809 obsolete cannabis abuse biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004809 MONDO:0004808 benign mammary dysplasia biolink:Disease mondo COHD:78200|SCTID:57993004|ICD9:610.9|ICD9:610.8|DOID:9504 DOID:9504|SNOMEDCT:57993004 http://purl.obolibrary.org/obo/MONDO_0004808 benign mammary dysplasia|benign dysplasia of breast MONDO:0004805 leukocyte disease biolink:Disease mondo UMLS:C0023510|ICD9:288.9|MESH:D007960|SCTID:54097007|ICD10:D72.9|DOID:9500|ICD9:288 A disease involving leukocytes. SNOMEDCT:54097007|MESH:D007960|UMLS:C0023510|DOID:9500 http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disorder|disorder of leukocyte|leukocyte disease|disease or disorder of leukocyte|disorder, leukocyte|white blood cell disorder|disease of leukocyte|disorders, leukocyte|leukocyte disease or disorder|disorder of leukocyte CHEBI:26606 sapogenin biolink:ChemicalSubstance mondo Any organic polycyclic compound that is the aglycon moiety of a saponin; sapogenins may be steroids or triterpenoids. http://purl.obolibrary.org/obo/CHEBI_26606 sapogenin|sapogenins MONDO:0004804 dacryoadenitis biolink:Disease mondo ICD10:H04.00|UMLS:C0155223|NCIT:C26971|ICD10:H04.0|SCTID:86927009|ICD9:375.00|COHD:381858|ICD9:375.0|DOID:950 Inflammation and enlargement of the lacrimal gland. NCIT:C26971|SNOMEDCT:86927009|DOID:950|UMLS:C0155223 http://purl.obolibrary.org/obo/MONDO_0004804 inflammation of lacrimal gland|lacrimal gland inflammation CHEBI:26607 saturated fatty acid biolink:ChemicalSubstance mondo Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess. http://purl.obolibrary.org/obo/CHEBI_26607 SFAs|saturated fatty acid|SFA|saturated fatty acids MONDO:0004807 obsolete Loeffler syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004807 MONDO:0004806 chronic eosinophilic pneumonia biolink:Disease mondo SCTID:233692000|NCIT:C34471|DOID:9502 Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement. SNOMEDCT:233692000|NCIT:C34471|DOID:9502 http://purl.obolibrary.org/obo/MONDO_0004806 cryptogenic pulmonary eosinophilia|eosinophilic pneumonia, chronic HP:0008496 Multiple rows of eyelashes biolink:PhenotypicFeature mondo UMLS:C0423848|SNOMEDCT_US:95339000|UMLS:C3550336 http://purl.obolibrary.org/obo/HP_0008496 Two rows of eyelashes|Extra rows of eyelashes|Multiple rows of eyelashes|Double row of eyelashes UBERON:0001694 petrous part of temporal bone biolink:AnatomicalEntity mondo The petrous portion of the temporal bone or pyramid is pyramidal and is wedged in at the base of the skull between the sphenoid and occipital bones. Directed medially, forward, and a little upward, it presents for examination a base, an apex, three surfaces, and three angles, and contains, in its interior, the essential parts of the organ of hearing. The petrous portion is among the most basal elements of the skull and forms part of the endocranium.[WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001694 petromastoid part of temporal bone|pars petrosa (os temporale)|petrosal bone|pars petrosa ossis temporalis|temporal bone petrous part|petrosal|petrous bone MONDO:0004823 obsolete dextrocardia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004823 MONDO:0004822 bronchiectasis biolink:Disease mondo COHD:256449|ICD10:J47|ICD9:494|SCTID:12295008|ICD10:J47.9|UMLS:C0006267|DOID:9563|MESH:D001987|OMIMPS:211400|NCIT:C84475 Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection. MESH:D001987|UMLS:C0006267|SNOMEDCT:12295008|NCIT:C84475|DOID:9563 http://purl.obolibrary.org/obo/MONDO_0004822 Polynesian bronchiectasis NCBITaxon:58023 Tracheophyta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_58023 vascular plants|vascular plants NCBITaxon:58024 Spermatophyta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_58024 seed plants|seed plants MONDO:0004825 obsolete encephalitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004825 MONDO:0004824 neonatal candidiasis biolink:Disease mondo ICD10:P37.5|NCIT:C116810|COHD:440840|SCTID:414821002|UMLS:C0276682|DOID:9577|ICD9:771.7 A fungal infection by any of the Candida species in a newborn infant up to 28 days old. SNOMEDCT:414821002|NCIT:C116810|UMLS:C0276682|DOID:9577 http://purl.obolibrary.org/obo/MONDO_0004824 neonatal Monilia infection|neonatal candida infection|neonatal Candida infection|neonatal moniliasis UBERON:0001679 ethmoid bone biolink:AnatomicalEntity mondo A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP] http://purl.obolibrary.org/obo/UBERON_0001679 ethmoid|ethmoidal bone|os ethmoidale UBERON:0001678 temporal bone biolink:AnatomicalEntity mondo the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous http://purl.obolibrary.org/obo/UBERON_0001678 os temporale MONDO:0004821 nasopharyngeal disease biolink:Disease mondo NCIT:C35723|UMLS:C0027438|SCTID:123952009|MESH:D009302|DOID:9561 A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma. MESH:D009302|NCIT:C35723|DOID:9561|SNOMEDCT:123952009|UMLS:C0027438 http://purl.obolibrary.org/obo/MONDO_0004821 disorder of nasopharynx|nasopharyngeal disorder|nasopharynx disease|disorder of nasopharynx|disease or disorder of nasopharynx|disease of nasopharynx|disorder of postnasal space|nasopharynx disease or disorder MONDO:0004820 peripheral nerve schwannoma biolink:Disease mondo DOID:956|UMLS:C1519001|NCIT:C41430 A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported. UMLS:C1519001|DOID:956|NCIT:C41430 http://purl.obolibrary.org/obo/MONDO_0004820 peripheral nerve schwannoma GO:0048732 gland development biolink:OntologyClass mondo The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion. http://purl.obolibrary.org/obo/GO_0048732 GO:0048731 system development biolink:OntologyClass mondo The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/GO_0048731 UBERON:0011004 pharyngeal arch cartilage biolink:AnatomicalEntity mondo A cartilage element that is part of a splanchnocranium. http://purl.obolibrary.org/obo/UBERON_0011004 splanchnocranium cartilage|pharyngeal arch cartilages HGNC:13806 NEUROG3 biolink:OntologyClass mondo http://identifiers.org/hgnc/13806 GO:0048738 cardiac muscle tissue development biolink:OntologyClass mondo The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0048738 heart muscle development UBERON:0001686 auditory ossicle bone biolink:AnatomicalEntity mondo One of 3 small bones contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth. The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss. The term 'ossicles' literally means 'tiny bones' and commonly refers to the auditory ossicles, though the term may refer to any small bone throughout the body. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001686 ear ossicle|ossicular chain|middle ear ossicle|ossicle of inner ear|auditory bone|ear bone|auditory ossicle|ossicle|ossicle of ear|ear ossicles|middle ear bone MONDO:0004819 indolent plasma cell myeloma biolink:Disease mondo NCIT:C7150|DOID:9550|SCTID:441313008|UMLS:C2049069 NCIT:C7150|UMLS:C2049069|SNOMEDCT:441313008|DOID:9550 http://purl.obolibrary.org/obo/MONDO_0004819 indolent plasma cell myeloma|indolent multiple myeloma|indolent myeloma UBERON:0001685 hyoid bone biolink:AnatomicalEntity mondo A horseshoe shaped bone situated in the anterior midline of the neck between the chin and the thyroid cartilage. The hyoid bone provides attachment to the muscles of the floor of the mouth and the tongue above, the larynx below, and the epiglottis and pharynx behind. [WP,modified]. http://purl.obolibrary.org/obo/UBERON_0001685 hyoideum|os hyoideum|hyoid bone|lingual bone|hyoid CL:0001082 immature innate lymphoid cell biolink:Cell mondo An innate lyphoid cell with an immature phenotype. http://purl.obolibrary.org/obo/CL_0001082 immature ILC MONDO:0004816 refractory plasma cell neoplasm biolink:Disease mondo NCIT:C7813|UMLS:C0278620|DOID:9544 A plasma cell neoplasm that is resistant to treatment. UMLS:C0278620|NCIT:C7813|DOID:9544 http://purl.obolibrary.org/obo/MONDO_0004816 refractory plasma cell neoplasm MONDO:0004815 osteosclerotic plasma cell myeloma biolink:Disease mondo NCIT:C7765|SCTID:425657001|DOID:9541 A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. SNOMEDCT:425657001|NCIT:C7765|DOID:9541 http://purl.obolibrary.org/obo/MONDO_0004815 osteosclerotic myeloma|osteosclerotic multiple myeloma|osteosclerotic plasma cell myeloma MONDO:0004818 obsolete benign neurilemmoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004818 UBERON:0001684 mandible biolink:AnatomicalEntity mondo A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton. http://purl.obolibrary.org/obo/UBERON_0001684 mandibula|mandibulla|lower mandibula|lower jaw bone|mandibular series|mammaliam mandible|lower jaw|inferior maxillary bone MONDO:0004817 non-secretory plasma cell myeloma biolink:Disease mondo NCIT:C4734|UMLS:C3898125|DOID:9547|SCTID:277580004|UMLS:C0456845 A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine. NCIT:C4734|UMLS:C3898125|DOID:9547|UMLS:C0456845|SNOMEDCT:277580004 http://purl.obolibrary.org/obo/MONDO_0004817 non-functioning myeloma|non-secretory myeloma|non-secretory multiple myeloma|non-secreting myeloma|non-secretory plasma cell myeloma GO:0009135 purine nucleoside diphosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009135 purine nucleoside diphosphate metabolism GO:0009132 nucleoside diphosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009132 nucleoside diphosphate metabolism GO:0009142 nucleoside triphosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009142 nucleoside triphosphate anabolism|nucleoside triphosphate biosynthesis|nucleoside triphosphate synthesis|nucleoside triphosphate formation GO:0009141 nucleoside triphosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolism GO:1901293 nucleoside phosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate anabolism|nucleoside phosphate synthesis|nucleoside phosphate formation|nucleoside phosphate biosynthesis GO:1901292 nucleoside phosphate catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of a nucleoside phosphate. http://purl.obolibrary.org/obo/GO_1901292 nucleoside phosphate degradation|nucleoside phosphate breakdown|nucleoside phosphate catabolism GO:0071072 negative regulation of phospholipid biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. http://purl.obolibrary.org/obo/GO_0071072 down regulation of phospholipid biosynthetic process|inhibition of phospholipid biosynthetic process|negative regulation of phospholipid synthesis|downregulation of phospholipid biosynthetic process|negative regulation of phospholipid formation|down-regulation of phospholipid biosynthetic process|negative regulation of phospholipid biosynthesis|negative regulation of phospholipid anabolism GO:0071073 positive regulation of phospholipid biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. http://purl.obolibrary.org/obo/GO_0071073 positive regulation of phospholipid anabolism|up-regulation of phospholipid biosynthetic process|positive regulation of phospholipid synthesis|up regulation of phospholipid biosynthetic process|positive regulation of phospholipid biosynthesis|activation of phospholipid biosynthetic process|positive regulation of phospholipid formation|stimulation of phospholipid biosynthetic process|upregulation of phospholipid biosynthetic process GO:0071071 regulation of phospholipid biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. http://purl.obolibrary.org/obo/GO_0071071 regulation of phospholipid formation|regulation of phospholipid biosynthesis|regulation of phospholipid anabolism|regulation of phospholipid synthesis CHEBI:36080 protein biolink:ChemicalSubstance mondo A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. http://purl.obolibrary.org/obo/CHEBI_36080 proteins GO:0009145 purine nucleoside triphosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009145 purine nucleoside triphosphate anabolism|purine nucleoside triphosphate synthesis|purine nucleoside triphosphate biosynthesis|purine nucleoside triphosphate formation GO:0009144 purine nucleoside triphosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolism GO:0009152 purine ribonucleotide biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0009152 purine ribonucleotide anabolism|purine ribonucleotide synthesis|purine ribonucleotide formation|purine ribonucleotide biosynthesis GO:0009150 purine ribonucleotide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0009150 purine ribonucleotide metabolism GO:0000781 chromosome, telomeric region biolink:OntologyClass mondo The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). http://purl.obolibrary.org/obo/GO_0000781 nuclear chromosome, telomeric region|nuclear chromosome, telomere|telomere GO:0097690 iron ion transmembrane transporter inhibitor activity biolink:OntologyClass mondo An activity that stops, prevents, or reduces the activity of an iron ion transmembrane transporter. http://purl.obolibrary.org/obo/GO_0097690 iron channel inhibitor activity GO:0000785 chromatin biolink:OntologyClass mondo The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. http://purl.obolibrary.org/obo/GO_0000785 chromosome scaffold|cytoplasmic chromatin|nuclear chromatin CHEBI:51689 enone biolink:ChemicalSubstance mondo An alpha,beta-unsaturated ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) in which the C=O function is conjugated to a C=C double bond at the alpha,beta position. http://purl.obolibrary.org/obo/CHEBI_51689 enones GO:0000784 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0000784 GO:0009117 nucleotide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/GO_0009117 nucleotide metabolism GO:0009112 nucleobase metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. http://purl.obolibrary.org/obo/GO_0009112 nucleobase metabolism GO:0009110 vitamin biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/GO_0009110 vitamin anabolism|vitamin biosynthesis|vitamin synthesis|vitamin formation CHEBI:36047 antibacterial drug biolink:ChemicalSubstance mondo A drug used to treat or prevent bacterial infections. http://purl.obolibrary.org/obo/CHEBI_36047 antibacterial drugs GO:0000789 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0000789 CHEBI:36043 antimicrobial drug biolink:ChemicalSubstance mondo A drug used to treat or prevent microbial infections. http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drugs GO:0000792 heterochromatin biolink:OntologyClass mondo A compact and highly condensed form of chromatin. http://purl.obolibrary.org/obo/GO_0000792 nuclear heterochromatin GO:0000791 euchromatin biolink:OntologyClass mondo A dispersed and relatively uncompacted form of chromatin. http://purl.obolibrary.org/obo/GO_0000791 nuclear euchromatin GO:0009127 purine nucleoside monophosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009127 purine nucleoside monophosphate anabolism|purine nucleoside monophosphate synthesis|purine nucleoside monophosphate formation|purine nucleoside monophosphate biosynthesis GO:0009126 purine nucleoside monophosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009126 purine nucleoside monophosphate metabolism GO:0009124 nucleoside monophosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009124 nucleoside monophosphate synthesis|nucleoside monophosphate biosynthesis|nucleoside monophosphate formation|nucleoside monophosphate anabolism GO:0000790 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0000790 GO:0009123 nucleoside monophosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009123 nucleoside monophosphate metabolism CHEBI:36059 hydroxy monocarboxylic acid anion biolink:ChemicalSubstance mondo Any monocarboxylic acid anion carrying at least one hydroxy substituent. http://purl.obolibrary.org/obo/CHEBI_36059 hydroxy monocarboxylic acid anions|hydroxymonocarboxylic acid anion|hydroxymonocarboxylic acid anions CHEBI:36054 benzoate ester biolink:ChemicalSubstance mondo Esters of benzoic acid or substituted benzoic acids. http://purl.obolibrary.org/obo/CHEBI_36054 benzoate esters|benzoic acid esters|benzoate ester UBERON:0001628 posterior communicating artery biolink:AnatomicalEntity mondo One of a pair of right-sided and left-sided blood vessels in the circle of Willis. It connects the three cerebral arteries of the same side. Anteriorly, it is one portion of the terminal trifurcation of the internal carotid artery. The anterior cerebral artery and the middle cerebral artery are the other two branches of the trifurcation. Posteriorly, it communicates with the posterior cerebral artery. http://purl.obolibrary.org/obo/UBERON_0001628 arteria cerebri communicans posterior|PCS|caudal communicating segment|posterior communicating segment of the basilar artery|PCA UBERON:0001629 carotid body biolink:AnatomicalEntity mondo A small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control. http://purl.obolibrary.org/obo/UBERON_0001629 carotid glomus|glomus caroticum UBERON:0001630 muscle organ biolink:AnatomicalEntity mondo Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. http://purl.obolibrary.org/obo/UBERON_0001630 muscle UBERON:0001633 basilar artery biolink:AnatomicalEntity mondo A major artery that supplues the hindbrain and runs along the ventral keel of the hindbrain. http://purl.obolibrary.org/obo/UBERON_0001633 BA UBERON:0001632 temporal artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0001632 UBERON:0001616 maxillary artery biolink:AnatomicalEntity mondo An artery that supplies deep structures of the face. It comes just out behind the neck of the mandible. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001616 internal maxillary artery|arteria maxillaris UBERON:0001619 ophthalmic artery biolink:AnatomicalEntity mondo The ophthalmic artery is a branch of the internal carotid artery which supplies branches to supply the eye and other structures in the orbit. It enters the orbit together with the Optic nerve through the Optic foramen/canal. [WP,modified]. http://purl.obolibrary.org/obo/UBERON_0001619 opthalmic artery|arteria ophthalmica UBERON:0001613 occipital artery biolink:AnatomicalEntity mondo The occipital artery arises opposite the facial artery, its path is below the posterior belly of digastric to the occipital region. This artery supplies blood to the back of the scalp and sterno-mastoid muscles. Other muscles it supplies are deep muscles in the back and neck. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001613 arteria occipitalis UBERON:0001612 facial artery biolink:AnatomicalEntity mondo A branch of the external carotid artery that supplies structures of the face. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001612 external maxillary artery|arteria maxillaris externa GO:0009108 obsolete coenzyme biosynthetic process biolink:OntologyClass mondo OBSOLETE. The chemical reactions and pathways resulting in the formation of coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. http://purl.obolibrary.org/obo/GO_0009108 coenzyme anabolism|coenzyme and prosthetic group biosynthetic process|coenzyme and prosthetic group biosynthesis|coenzyme biosynthesis|coenzyme synthesis|coenzyme formation GO:0009107 lipoate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. http://purl.obolibrary.org/obo/GO_0009107 lipoate biosynthesis|lipoic acid biosynthetic process|lipoic acid biosynthesis|lipoic acid anabolism|lipoate anabolism|lipoic acid synthesis|lipoate synthesis|lipoic acid formation|lipoate formation GO:0009106 lipoate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. http://purl.obolibrary.org/obo/GO_0009106 lipoate metabolism|lipoic acid metabolism|lipoic acid metabolic process CHEBI:48001 protein synthesis inhibitor biolink:ChemicalSubstance mondo A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. http://purl.obolibrary.org/obo/CHEBI_48001 protein synthesis inhibitors|protein synthesis antagonists|protein synthesis antagonist GO:0009101 glycoprotein biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/GO_0009101 glycoprotein anabolism|glycoprotein biosynthesis|glycoprotein synthesis|glycoprotein formation GO:0009100 glycoprotein metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/GO_0009100 glycoprotein metabolism UBERON:0001620 central retinal artery biolink:AnatomicalEntity mondo The central retinal artery (retinal artery) branches off the ophthalmic artery, running inferior to the optic nerve within its dural sheath to the eyeball. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001620 arteria centralis retinae|retinal artery|central artery of retina|central artery of the retina|Zinn's artery UBERON:0001622 lacrimal artery biolink:AnatomicalEntity mondo The lacrimal artery arises close to the optic foramen, and is one of the largest branches derived from the ophthalmic artery: not infrequently it is given off before the artery enters the orbit. It accompanies the lacrimal nerve along the upper border of the Lateral Rectus, supplies the lacrimal gland. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001622 a. lacrimalis UBERON:0001621 coronary artery biolink:AnatomicalEntity mondo An artery that supplies the myocardium. http://purl.obolibrary.org/obo/UBERON_0001621 coronary vessel|coronary arterial tree UBERON:0001606 muscle of iris biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0001606 iris muscle organ|iris muscle|muscle organ of iris UBERON:0001605 ciliary muscle biolink:AnatomicalEntity mondo The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001605 Bowman`s muscles|musculus ciliaris|ciliaris|musculus ciliarus UBERON:0001608 dilatator pupillae biolink:AnatomicalEntity mondo A smooth muscle of the eye, running radially in the iris that functions as a dilator. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001608 musculus dilator pupillae|pupillary dilator|pupillary muscle|iris dilator muscle|dilator muscle of pupil|pupil dilator muscle|musculus dilatator pupillae|radial muscle of iris|radial muscle|dilator pupillae muscle|iris dilator|pupillary dilator muscle|dilator of pupil|radiating fibers|dilator pupillae muscle|pupil dilator|dilator pupillae|musculus dilatator pupillae UBERON:0001607 sphincter pupillae biolink:AnatomicalEntity mondo A sphincter muscle that is part of the iris. http://purl.obolibrary.org/obo/UBERON_0001607 M. sphincter pupillae|pupillary sphincter|circular fibers|sphincter muscle of pupil|iris sphincter muscle|constrictor pupillae|sphincter pupillae|m. sphincter pupillae|spincter pupillae|iris sphincter|iris constrictor|iris constrictor muscle|sphincter pupillae muscle|musculus sphincter pupillae|pupillary sphincter muscle|pupillary constrictor muscle UBERON:0001601 extra-ocular muscle biolink:AnatomicalEntity mondo Skeletal muscle derived from cranial mesoderm and controls eye movements. http://purl.obolibrary.org/obo/UBERON_0001601 extrinsic muscle of eyeball|extrinsic ocular muscle|musculi externi bulbi oculi|extrinsic eye muscle|extraocular muscle|extraocular skeletal muscle|extraocular musculature|extra-ocular skeletal muscle UBERON:0001604 levator palpebrae superioris biolink:AnatomicalEntity mondo The levator palpebrae superioris (or levator muscle of upper eyelid) is the muscle in the orbit that elevates the superior (upper) eyelid. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001604 UBERON:0001611 sublingual artery biolink:AnatomicalEntity mondo A branch of the lingual artery that supplies the sublingual gland. http://purl.obolibrary.org/obo/UBERON_0001611 arteria sublingualis|sublingual branch of lingual artery UBERON:0001610 lingual artery biolink:AnatomicalEntity mondo The lingual artery arises from the external carotid between the superior thyroid and facial artery[WP]. http://purl.obolibrary.org/obo/UBERON_0001610 lingual branch of external carotid artery|arteria lingualis CARO:0010000 multicellular anatomical structure biolink:OntologyClass mondo http://purl.obolibrary.org/obo/CARO_0010000 MONDO:0002299 glomangioma biolink:Disease mondo UMLS:C0334421|DOID:2436|ICDO:8712/0|NCIT:C4222 A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. DOID:2436|NCIT:C4222|UMLS:C0334421 http://purl.obolibrary.org/obo/MONDO_0002299 glomangioma MONDO:0014280 immunodeficiency 19 biolink:Disease mondo OMIM:615617|UMLS:C3810147|DOID:0060016 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene. http://identifiers.org/omim/615617|UMLS:C3810147|DOID:0060016 http://purl.obolibrary.org/obo/MONDO_0014280 CD3D severe combined immunodeficiency (disease)|SCID, T cell-negative, B cell-positive, NK cell-positive|immunodeficiency 19|CD3delta deficiency|immunodeficiency 19; IMD19|CD3D|IMD19|severe combined immunodeficiency (disease) caused by mutation in CD3D|immunodeficiency type 19|CD3-Delta deficiency|severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive MONDO:0002295 skin glomus tumor biolink:Disease mondo DOID:2430|UMLS:C0346083|SCTID:254795008|NCIT:C4491 A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site. SNOMEDCT:254795008|DOID:2430|NCIT:C4491|UMLS:C0346083 http://purl.obolibrary.org/obo/MONDO_0002295 glomus neoplasm of skin|glomus neoplasm of the skin|glomus skin tumor|glomus skin neoplasm|glomus tumor of skin|glomus tumor of the skin|skin glomus neoplasm|zone of skin glomus tumor MONDO:0002296 obsolete glomus tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002296 MONDO:0002297 epidermal appendage tumor biolink:Disease mondo ICD9:239.2|SCTID:126489007|NCIT:C4463|UMLS:C0345988|DOID:2433 A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. DOID:2433|NCIT:C4463|UMLS:C0345988|SNOMEDCT:126489007 http://purl.obolibrary.org/obo/MONDO_0002297 neoplasm of skin appendage|tumor of Epidermal appendage|neoplasm of cutaneous appendage|skin appendage tumor|cutaneous appendage tumor|neoplasm of the skin appendage|cutaneous appendage neoplasm|adnexal tumor of skin|skin appendage tumour|Epidermal appendage neoplasm|adnexal tumor of the skin|neoplasm of Epidermal appendage|tumor of cutaneous appendage|tumor of skin appendage|tumor of the skin appendage|Epidermal appendage tumor|cutaneous appendage neoplasm (disease)|cutaneous adnexal neoplasm|neoplasm of skin with adnexal differentiation|skin appendage neoplasm|adnexal neoplasm of skin|adnexal neoplasm of the skin MONDO:0002298 cutaneous glomangioma biolink:Disease mondo SCTID:403970001|NCIT:C6750|DOID:2435|UMLS:C1275226 A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells. UMLS:C1275226|DOID:2435|NCIT:C6750|SNOMEDCT:403970001 http://purl.obolibrary.org/obo/MONDO_0002298 skin glomangioma|zone of skin glomangioma|cutaneous glomangioma|glomangioma of skin|glomangioma of the skin MONDO:0002291 cutaneous granular cell tumor biolink:Disease mondo SCTID:254763007|UMLS:C0346060|ICD9:215.9|DOID:2410|NCIT:C5617 A granular cell tumor that involves the zone of skin. NCIT:C5617|UMLS:C0346060|SNOMEDCT:254763007|DOID:2410 http://purl.obolibrary.org/obo/MONDO_0002291 granular cell neoplasm of the skin|cutaneous granular cell tumor|skin granular cell neoplasm|granular cell tumor of skin|granular cell tumor of the skin|zone of skin granular cell tumor|skin granular cell tumor|cutaneous granular cell neoplasm|granular cell neoplasm of skin|granular cell skin tumor|granular cell tumor of zone of skin GO:1903862 positive regulation of oxidative phosphorylation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of oxidative phosphorylation. http://purl.obolibrary.org/obo/GO_1903862 up-regulation of respiratory-chain phosphorylation|up regulation of oxidative phosphorylation|activation of oxidative phosphorylation|up regulation of respiratory-chain phosphorylation|positive regulation of respiratory-chain phosphorylation|activation of respiratory-chain phosphorylation|upregulation of oxidative phosphorylation|upregulation of respiratory-chain phosphorylation|up-regulation of oxidative phosphorylation MONDO:0002292 obsolete granular cell tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002292 MONDO:0002293 cutaneous ganglioneuroma biolink:Disease mondo NCIT:C4481|SCTID:254766004|UMLS:C0346063|DOID:2425 A ganglioneuroma arising from the skin. SNOMEDCT:254766004|DOID:2425|NCIT:C4481|UMLS:C0346063 http://purl.obolibrary.org/obo/MONDO_0002293 cutaneous ganglioneuroma|ganglioneuroma of skin|ganglioneuroma of the skin|skin ganglioneuroma MONDO:0002294 obsolete gangliocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002294 MONDO:0002290 clitoris cancer biolink:Disease mondo SCTID:371979001|ICD9:184.3|DOID:2401|NCIT:C3557|ICD10:C51.2|UMLS:C0153589 A malignant neoplasm that affects the clitoris. UMLS:C0153589|NCIT:C3557|SNOMEDCT:371979001|DOID:2401 http://purl.obolibrary.org/obo/MONDO_0002290 clitoral Ca|malignant neoplasm of clitoris|malignant clitoral neoplasm|malignant clitoral tumor|malignant neoplasm of the clitoris|malignant clitoris tumor|clitoral cancer|clitoris cancer|cancer of clitoris|malignant tumor of clitoris|malignant tumor of the clitoris|malignant clitoris neoplasm|carcinoma of clitoris MONDO:0014289 macrocephaly-developmental delay syndrome biolink:Disease mondo Orphanet:397612|OMIM:615637|UMLS:C3810225|ICD10:Q75.3 Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally. ORPHA:397612|http://identifiers.org/omim/615637|UMLS:C3810225 http://purl.obolibrary.org/obo/MONDO_0014289 intellectual disability, autosomal recessive 41|mental retardation, autosomal recessive type 41|mental retardation, autosomal recessive 41|mental retardation, autosomal recessive 41; MRT41|MRT41|intellectual disability, autosomal recessive type 41|intellectual disability, autosomal recessive 41; MRT41 ordo_malformation_syndrome MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly biolink:Disease mondo UMLS:C3810175|ICD10:Q87.5|ICD10:Q77.2|OMIM:615630|DOID:0110091 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. http://identifiers.org/omim/615630|UMLS:C3810175|DOID:0110091 http://purl.obolibrary.org/obo/MONDO_0014284 short-rib thoracic dysplasia 10 with or without polydactyly; SRTD10|SRTD10|short-rib thoracic dysplasia 10 with or without polydactyly MONDO:0014283 autosomal dominant nonsyndromic deafness 56 biolink:Disease mondo ICD10:H90.3|UMLS:C3810170|DOID:0110581|OMIM:615629 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene. UMLS:C3810170|http://identifiers.org/omim/615629|DOID:0110581 http://purl.obolibrary.org/obo/MONDO_0014283 deafness, autosomal dominant 56; DFNA56|deafness, autosomal dominant 56|DFNA56|deafness, autosomal dominant type 56|TNC autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 56|autosomal dominant nonsyndromic deafness caused by mutation in TNC|autosomal dominant deafness 56 MONDO:0014282 hereditary spastic paraplegia 72 biolink:Disease mondo Orphanet:401849|DOID:0110817|ICD10:G11.4|OMIM:615625|UMLS:C3810160 Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene. DOID:0110817|http://identifiers.org/omim/615625|UMLS:C3810160|ORPHA:401849 http://purl.obolibrary.org/obo/MONDO_0014282 spastic paraplegia 72, autosomal dominant|hereditary spastic paraplegia type 72|spastic paraplegia 72, autosomal recessive; SPG72|autosomal spastic paraplegia type 72|pure hereditary spastic paraplegia caused by mutation in REEP2|SPG72|REEP2 pure hereditary spastic paraplegia|spastic paraplegia 72, autosomal recessive ordo_inheritance_inconsistent|ordo_disease MONDO:0014281 cholangiocarcinoma, susceptibility to biolink:Disease mondo OMIM:615619 http://identifiers.org/omim/615619 http://purl.obolibrary.org/obo/MONDO_0014281 Chlc, susceptibility to|cholangiocarcinoma, susceptibility to predisposition MONDO:0014288 Joubert syndrome 21 biolink:Disease mondo OMIM:615636|DOID:0110990|UMLS:C3810212 Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene. DOID:0110990|UMLS:C3810212|http://identifiers.org/omim/615636 http://purl.obolibrary.org/obo/MONDO_0014288 Joubert syndrome 21|CSPP1 Joubert syndrome|JBTS21|Joubert syndrome caused by mutation in CSPP1|Joubert syndrome 21; JBTS21|Joubert syndrome type 21 MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly biolink:Disease mondo UMLS:C3810200|OMIM:615633|DOID:0110095|ICD10:Q77.2 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. http://identifiers.org/omim/615633|UMLS:C3810200|DOID:0110095 http://purl.obolibrary.org/obo/MONDO_0014287 short-rib thoracic dysplasia 11 with or without polydactyly|SRTD11|short-rib thoracic dysplasia 11 with or without polydactyly; SRTD11 MONDO:0014286 neuropathy, hereditary sensory, type 1F biolink:Disease mondo DOID:0070154|UMLS:C3810194|OMIM:615632 Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene. http://identifiers.org/omim/615632|UMLS:C3810194|DOID:0070154 http://purl.obolibrary.org/obo/MONDO_0014286 HSN 1F|HSN1F|hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3|ATL3 hereditary sensory and autonomic neuropathy type 1|hereditary sensory neuropathy type 1F|neuropathy, hereditary sensory, type IF; HSN1F|hereditary sensory neuropathy type IF|neuropathy, hereditary sensory, type IF MONDO:0014285 congenital dyserythropoietic anemia type type 1B biolink:Disease mondo OMIM:615631|UMLS:C3810185 UMLS:C3810185|http://identifiers.org/omim/615631 http://purl.obolibrary.org/obo/MONDO_0014285 anemia, congenital dyserythropoietic, type IB|CDA, type IB|CDAN1B|anemia, congenital dyserythropoietic, type IB; CDAN1B NCBITaxon:12721 Human immunodeficiency virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12721 AIDS virus|HIV GO:1901213 regulation of transcription from RNA polymerase II promoter involved in heart development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the development of the heart over time. http://purl.obolibrary.org/obo/GO_1901213 regulation of transcription from RNA polymerase II promoter involved in cardiac development|regulation of global transcription from Pol II promoter involved in dorsal vessel development|regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|global transcription regulation from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|regulation of global transcription from Pol II promoter involved in cardiac development|global transcription regulation from Pol II promoter involved in heart development|regulation of transcription from RNA polymerase II promoter, global involved in cardiac development|regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|regulation of global transcription from Pol II promoter involved in heart development|regulation of transcription from Pol II promoter involved in heart development|regulation of transcription from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in heart development|global transcription regulation from Pol II promoter involved in dorsal vessel development|regulation of transcription from Pol II promoter involved in dorsal vessel development MONDO:0014279 obsolete arrhythmogenic right ventricular dysplasia, familial, 13 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0014279 MONDO:0014278 immunodeficiency 18 biolink:Disease mondo UMLS:C3810127|OMIM:615615|DOID:0060017 Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18. DOID:0060017|UMLS:C3810127|http://identifiers.org/omim/615615 http://purl.obolibrary.org/obo/MONDO_0014278 immunodeficiency 18, SCID variant|immunodeficiency 18; IMD18|immunodeficiency 18, Severe combined immunodeficiency variant|IMD18|immunodeficiency 18|CD3-Epsilon deficiency|immunodeficiency type 18 MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome biolink:Disease mondo Orphanet:397951|ICD10:Q87.8|OMIM:615599|UMLS:C3810080 Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. ORPHA:397951|http://identifiers.org/omim/615599|UMLS:C3810080 http://purl.obolibrary.org/obo/MONDO_0014273 intellectual disability, autosomal recessive type 40|mental retardation, autosomal recessive 40; MRT40|mental retardation, autosomal recessive type 40|intellectual disability, autosomal recessive 40; MRT40|mental retardation, autosomal recessive 40|intellectual disability, autosomal recessive 40|MRT40 ordo_disease MONDO:0014272 palmoplantar keratoderma, Nagashima type biolink:Disease mondo ICD10:Q82.8|SCTID:722205008|Orphanet:140966|UMLS:C3810072|OMIM:615598 Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. UMLS:C3810072|SNOMEDCT:722205008|http://identifiers.org/omim/615598|ORPHA:140966 http://purl.obolibrary.org/obo/MONDO_0014272 palmoplantar keratoderma, Nagashima type|palmoplantar keratoderma, Nagashima type; PPKN|PPKN|palmoplantar hyperkeratosis, Nagashima type|PPK, Nagashima type ordo_disease MONDO:0014271 STT3B-CDG biolink:Disease mondo MESH:C535751|SCTID:733112007|Orphanet:370924|ICD10:E77.8|UMLS:C2931007|OMIM:615597 (3p24.1). MESH:C535751|UMLS:C2931007|http://identifiers.org/omim/615597|ORPHA:370924|SNOMEDCT:733112007 http://purl.obolibrary.org/obo/MONDO_0014271 CDG1X|congenital disorder of glycosylation type 1x|CDG IX|CDG-Ix|carbohydrate deficient glycoprotein syndrome type IX|CDG syndrome type IX|congenital disorder of glycosylation type IX|congenital disorder of glycosylation, type IX; CDG1X|congenital disorder of glycosylation, type IX ordo_disease MONDO:0014270 STT3A-CDG biolink:Disease mondo Orphanet:370921|ICD10:E77.8|SCTID:733111000|UMLS:C3810062|OMIM:615596 STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3). SNOMEDCT:733111000|UMLS:C3810062|http://identifiers.org/omim/615596|ORPHA:370921 http://purl.obolibrary.org/obo/MONDO_0014270 congenital disorder of glycosylation type 1w|CDG1W|CDG-Iw|CDG Iw|CDG syndrome type Iw|congenital disorder of glycosylation type Iw|congenital disorder of glycosylation, type Iw; CDG1W|congenital disorder of glycosylation, type Iw ordo_disease MONDO:0014277 DDH2 biolink:Disease mondo OMIM:615612|UMLS:C3715079 http://identifiers.org/omim/615612|UMLS:C3715079 http://purl.obolibrary.org/obo/MONDO_0014277 developmental dysplasia of the hip 2; DDH2|DDH2|developmental dysplasia of the hip 2 MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency biolink:Disease mondo ICD10:D81.2|OMIM:615607|SCTID:725135004|Orphanet:169082|UMLS:C4510864|GARD:0009521|UMLS:C3810107|DOID:0060018 Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations. DOID:0060018|ORPHA:169082|SNOMEDCT:725135004|UMLS:C3810107|http://identifiers.org/omim/615607|UMLS:C4510864 http://purl.obolibrary.org/obo/MONDO_0014276 CD3-gamma deficiency|immunodeficiency type 17|immunodeficiency 17|CD3 deficiency|SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive|immunodeficiency 17; IMD17|CD3gamma deficiency|IMD17 gard_rare|ordo_disease MONDO:0014275 Fanconi renotubular syndrome 3 biolink:Disease mondo OMIM:615605|UMLS:C3810100 Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. http://identifiers.org/omim/615605|UMLS:C3810100 http://purl.obolibrary.org/obo/MONDO_0014275 Fanconi renotubular syndrome 3|Fanconi renotubular syndrome type 3|EHHADH Fanconi syndrome|FRTS3|Fanconi renotubular syndrome 3; FRTS3|Fanconi syndrome caused by mutation in EHHADH MONDO:0014274 L-ferritin deficiency biolink:Disease mondo UMLS:C3810090|OMIM:615604|Orphanet:440731 UMLS:C3810090|http://identifiers.org/omim/615604|ORPHA:440731 http://purl.obolibrary.org/obo/MONDO_0014274 L-ferritin deficiency; LFTD|L-ferritin deficiency|LFTD ordo_biological_anomaly MONDO:0002277 arteriosclerosis disorder biolink:Disease mondo SCTID:72092001|NCIT:C34403|ICD9:440|HP:0002634|NCIT:C34398|CSP:0571-2299|ICD10:I25.1|UMLS:C0003850|MESH:D001161|DOID:2349|ICD10:I70|DOID:2348|EFO:0009086|UMLS:C3665365 A vascular disorder characterized by thickening and hardening of the walls of the arteries. NCIT:C34403|NCIT:C34398|DOID:2349|DOID:2348|SNOMEDCT:72092001|UMLS:C0003850|UMLS:C3665365|MESH:D001161 http://purl.obolibrary.org/obo/MONDO_0002277 cardiovascular arteriosclerosis|arteriosclerotic cardiovascular disease, NOS|arteriosclerotic vascular disease|arteriosclerotic cardiovascular disease|arteriosclerosis|arteriosclerosis NOS|arterial sclerosis|arteriosclerotic vascular disease NOS|vascular sclerosis MONDO:0002278 benign colon neoplasm biolink:Disease mondo ICD9:211.3|DOID:235|UMLS:C0004991|NCIT:C2894|SCTID:92065004 A non-metastasizing neoplasm arising from the wall of the colon. NCIT:C2894|DOID:235|UMLS:C0004991|SNOMEDCT:92065004 http://purl.obolibrary.org/obo/MONDO_0002278 benign colonic neoplasm|neoplasm of colon|benign neoplasm of the colon|benign neoplasm of colon|benign tumor of the colon|benign colon neoplasm|benign colon tumor|benign tumor of colon|colon neoplasm|colonic benign neoplasm|colonic Mass|colonic tumor|colon benign neoplasm|benign colonic tumor GO:1901228 positive regulation of transcription from RNA polymerase II promoter involved in heart development biolink:OntologyClass mondo Any positive regulation of transcription from RNA polymerase II promoter that is involved in heart development. http://purl.obolibrary.org/obo/GO_1901228 stimulation of transcription from RNA polymerase II promoter involved in heart development|stimulation of transcription from RNA polymerase II promoter involved in cardiac development|stimulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of global transcription from RNA polymerase II promoter involved in heart development|up-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of global transcription from RNA polymerase II promoter involved in cardiac development|stimulation of global transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in heart development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of transcription from RNA polymerase II promoter involved in cardiac development|up-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|up regulation of transcription from RNA polymerase II promoter involved in heart development|up regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of transcription from Pol II promoter involved in heart development|positive regulation of transcription from Pol II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in heart development|activation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of transcription from Pol II promoter involved in dorsal vessel development|positive regulation of transcription from RNA polymerase II promoter involved in cardiac development|up regulation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of global transcription from Pol II promoter involved in dorsal vessel development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up-regulation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of transcription from RNA polymerase II promoter involved in cardiac development|upregulation of transcription from RNA polymerase II promoter involved in heart development|activation of global transcription from RNA polymerase II promoter involved in cardiac development|upregulation of global transcription from RNA polymerase II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in cardiac development|upregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in cardiac development|up regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development MONDO:0002279 iron metabolism disease biolink:Disease mondo SCTID:30913008|COHD:434614|ICD10:E83.10|UMLS:C0012715|ICD9:275.0|ICD10:E83.1|MESH:D019189|DOID:2351 Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed) MESH:D019189|UMLS:C0012715|DOID:2351|SNOMEDCT:30913008 http://purl.obolibrary.org/obo/MONDO_0002279 disorder of iron metabolism|iron disorder|metabolism disorder, iron|iron metabolism disorder|disorder, iron metabolism|disorders, iron metabolism|metabolism disorders, iron MONDO:0002273 plasma protein metabolism disease biolink:Disease mondo DOID:2345|ICD9:273.8 An inherited metabolic disorder that involves plasma protein metabolism malfunction. DOID:2345 http://purl.obolibrary.org/obo/MONDO_0002273 GO:1901227 negative regulation of transcription from RNA polymerase II promoter involved in heart development biolink:OntologyClass mondo Any negative regulation of transcription from RNA polymerase II promoter that is involved in heart development. http://purl.obolibrary.org/obo/GO_1901227 down regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of global transcription from Pol II promoter involved in cardiac development|down-regulation of global transcription from RNA polymerase II promoter involved in heart development|downregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of transcription from Pol II promoter involved in heart development|negative regulation of transcription from Pol II promoter involved in cardiac development|downregulation of transcription from RNA polymerase II promoter involved in cardiac development|inhibition of transcription from RNA polymerase II promoter involved in heart development|downregulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of transcription from Pol II promoter involved in dorsal vessel development|downregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of global transcription from RNA polymerase II promoter involved in heart development|downregulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|negative regulation of global transcription from Pol II promoter involved in heart development|inhibition of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of global transcription from RNA polymerase II promoter involved in cardiac development|downregulation of global transcription from RNA polymerase II promoter involved in heart development|down-regulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of transcription from RNA polymerase II promoter involved in cardiac development|inhibition of global transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of global transcription from Pol II promoter involved in dorsal vessel development|down regulation of transcription from RNA polymerase II promoter involved in cardiac development|down regulation of transcription from RNA polymerase II promoter involved in heart development|down regulation of global transcription from RNA polymerase II promoter involved in heart development MONDO:0002274 monoclonal paraproteinemia disease biolink:Disease mondo COHD:441532|HP:0031047|SCTID:267440005|NCIT:C35878|ICD9:273.1|UMLS:C0026471|DOID:2346 A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma. NCIT:C35878|DOID:2346|SNOMEDCT:267440005|UMLS:C0026471 http://purl.obolibrary.org/obo/MONDO_0002274 monoclonal paraproteinemia|paraproteinaemia|monoclonal paraproteinaemia MONDO:0002275 generalized atherosclerosis biolink:Disease mondo SCTID:39823006|NCIT:C35767|ICD9:440.9|COHD:321882|ICD10:I70.91|UMLS:C0017327|DOID:2347 Atherosclerosis that is not localized. NCIT:C35767|DOID:2347|UMLS:C0017327|SNOMEDCT:39823006 http://purl.obolibrary.org/obo/MONDO_0002275 generalized and unspecified atherosclerosis|generalised atherosclerosis MONDO:0002276 obsolete arteriosclerotic cardiovascular disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002276 MONDO:0002270 viral gastritis biolink:Disease mondo SCTID:285344007|UMLS:C0563238|DOID:2327|NCIT:C27184|ICD9:008.8 Inflammation of the stomach resulting from viral infection. NCIT:C27184|SNOMEDCT:285344007|DOID:2327|UMLS:C0563238 http://purl.obolibrary.org/obo/MONDO_0002270 Viruses gastritis (disease)|viral gastritis|Viruses caused gastritis (disease) MONDO:0002271 colon adenocarcinoma biolink:Disease mondo EFO:1001949|UMLS:C0338106|ONCOTREE:COAD|DOID:234|NCIT:C4349 A carcinoma that arises from glandular epithelial cells of the colon NCIT:C4349|DOID:234|UMLS:C0338106 http://purl.obolibrary.org/obo/MONDO_0002271 adenocarcinoma - colon|colon adenocarcinoma|adenocarcinoma of the colon|adenocarcinoma of colon|COAD|colonic adenocarcinoma MONDO:0002272 polyclonal hypergammaglobulinemia biolink:Disease mondo DOID:2344|COHD:432587|UMLS:C0154254|NCIT:C35885|ICD9:273.0|SCTID:190808009|ICD10:D89.0 A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines. DOID:2344|UMLS:C0154254|SNOMEDCT:190808009|NCIT:C35885 http://purl.obolibrary.org/obo/MONDO_0002272 polyclonal hypergammaglobulinemia GO:0009087 methionine catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. http://purl.obolibrary.org/obo/GO_0009087 methionine catabolism|methionine degradation|methionine breakdown MONDO:0014269 combined oxidative phosphorylation deficiency 19 biolink:Disease mondo UMLS:C3810055|OMIM:615595 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene. UMLS:C3810055|http://identifiers.org/omim/615595 http://purl.obolibrary.org/obo/MONDO_0014269 combined oxidative phosphorylation deficiency 19; COXPD19|LYRM4 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 19|combined oxidative phosphorylation deficiency type 19|combined oxidative phosphorylation deficiency caused by mutation in LYRM4|COXPD19 MONDO:0014268 combined immunodeficiency due to OX40 deficiency biolink:Disease mondo SCTID:766879006|OMIM:615593|UMLS:C3810053|ICD10:D81.8|Orphanet:431149 Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. SNOMEDCT:766879006|ORPHA:431149|http://identifiers.org/omim/615593|UMLS:C3810053 http://purl.obolibrary.org/obo/MONDO_0014268 immunodeficiency 16; IMD16|immunodeficiency type 16|immunodeficiency 16|combined immunodeficiency with childhood-onset Kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|OX40 deficiency|IMD16|combined immunodeficiency with impaired immunity to HHV-8 ordo_disease MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency biolink:Disease mondo ICD10:D81.2|UMLS:C3810043|OMIM:615592|Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. ORPHA:397787|UMLS:C3810043|http://identifiers.org/omim/615592 http://purl.obolibrary.org/obo/MONDO_0014267 IMD15|immunodeficiency type 15|immunodeficiency 15|SCID due to IKK2 deficiency|immunodeficiency 15; IMD15 ordo_disease GO:0009081 branched-chain amino acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine. http://purl.obolibrary.org/obo/GO_0009081 branched chain family amino acid metabolism MONDO:0014262 Rienhoff syndrome biolink:Disease mondo GARD:0012356|UMLS:C3810012|OMIM:615582|DOID:0070236|EFO:1000012 Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection. UMLS:C3810012|http://identifiers.org/omim/615582|DOID:0070236 http://purl.obolibrary.org/obo/MONDO_0014262 Rienhoff syndrome|Loeys-Dietz syndrome 5|Loeys-Dietz syndrome type 5|LDS5|Loeys-Dietz syndrome 5; LDS5 gard_rare MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome biolink:Disease mondo ICD10:E88.8|UMLS:C3810001|Orphanet:391348|OMIM:615578 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene. http://identifiers.org/omim/615578|UMLS:C3810001|ORPHA:391348 http://purl.obolibrary.org/obo/MONDO_0014261 COXPD18|combined oxidative phosphorylation deficiency 18; COXPD18|combined oxidative phosphorylation deficiency caused by mutation in SFXN4|combined oxidative phosphorylation deficiency type 18|combined oxidative phosphorylation deficiency 18|SFXN4 combined oxidative phosphorylation deficiency ordo_disease MONDO:0014260 immunodeficiency, common variable, 10 biolink:Disease mondo UMLS:C3809991|OMIM:615577 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene. UMLS:C3809991|http://identifiers.org/omim/615577 http://purl.obolibrary.org/obo/MONDO_0014260 NFKB2 common variable immunodeficiency|immunodeficiency, common variable, type 10|immunodeficiency, common variable, with central adrenal insufficiency|immunodeficiency, common variable, 10; CVID10|immunodeficiency, common variable, 10|Deficit in anterior pituitary function and variable immunodeficiency|CVID10|common variable immunodeficiency caused by mutation in NFKB2 MONDO:0014266 age related macular degeneration 15 biolink:Disease mondo UMLS:C3810042|DOID:0110027|OMIM:615591 Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene. DOID:0110027|http://identifiers.org/omim/615591|UMLS:C3810042 http://purl.obolibrary.org/obo/MONDO_0014266 macular degeneration, age-related, 15|C9 age-related macular degeneration|macular Degeneration, age-related, type 15|age-related macular degeneration caused by mutation in C9|ARMD15|age related macular degeneration type 15|macular degeneration, age-related, 15; ARMD15 MONDO:0014265 Alzheimer disease 18 biolink:Disease mondo UMLS:C3810041|OMIM:615590|DOID:0110050 Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene. DOID:0110050|UMLS:C3810041|http://identifiers.org/omim/615590 http://purl.obolibrary.org/obo/MONDO_0014265 Alzheimer disease 18; AD18|Alzheimer disease caused by mutation in ADAM10|Alzheimer's disease type 18|AD18|Alzheimer disease 18|ADAM10 Alzheimer disease|Alzheimer disease type 18|Alzheimer's disease 18|Alzheimer disease 18, late-onset MONDO:0014264 OTSC10 biolink:Disease mondo OMIM:615589 http://identifiers.org/omim/615589 http://purl.obolibrary.org/obo/MONDO_0014264 OTSC10|otosclerosis 10|otosclerosis 10; OTSC10 MONDO:0014263 8q24.3 microdeletion syndrome biolink:Disease mondo OMIM:615583|UMLS:C3810023|GARD:0012814|Orphanet:508488 ORPHA:508488|UMLS:C3810023|http://identifiers.org/omim/615583 http://purl.obolibrary.org/obo/MONDO_0014263 Verheij syndrome|chromosome 8Q24.3 deletion syndrome|Verheij syndrome; VRJS|VRJS ordo_malformation_syndrome MONDO:0002288 obsolete ovarian cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002288 MONDO:0002289 iris disease biolink:Disease mondo UMLS:C0022078|SCTID:85478004|MESH:D007499|NCIT:C34737|DOID:240 A disease involving the iris. NCIT:C34737|MESH:D007499|UMLS:C0022078|SNOMEDCT:85478004|DOID:240 http://purl.obolibrary.org/obo/MONDO_0002289 iris disorder|iris disease or disorder|disorder of iris|disease of iris|disorder of iris|disease or disorder of iris|iris disease MONDO:0002284 obsolete gangliosidosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002284 MONDO:0002285 pupil disease biolink:Disease mondo DOID:238|UMLS:C0034124|SCTID:68633000 A disease involving the pupil. SNOMEDCT:68633000|UMLS:C0034124|DOID:238 http://purl.obolibrary.org/obo/MONDO_0002285 disorder of pupil|pupil disease|disease or disorder of pupil|pupil disease or disorder|disease of pupil|pupillary disorder|disorder of pupil MONDO:0002286 renal artery disease biolink:Disease mondo DOID:2388|UMLS:C3640053|SCTID:16934004|ICD9:593.81|NCIT:C101254|UMLS:C0268790 A disease involving the renal artery. NCIT:C101254|DOID:2388|SNOMEDCT:16934004|UMLS:C3640053|UMLS:C0268790 http://purl.obolibrary.org/obo/MONDO_0002286 vascular disorder of kidney|renal vascular disease MONDO:0002287 glandular cystitis biolink:Disease mondo UMLS:C0268837|NCIT:C39860|DOID:2392|SCTID:72815004|ICD9:595.89 A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells. DOID:2392|NCIT:C39860|UMLS:C0268837|SNOMEDCT:72815004 http://purl.obolibrary.org/obo/MONDO_0002287 cystitis glandularis MONDO:0002280 anemia (disease) biolink:Disease mondo EFO:0004272|ICD9:285.8|ICD10:D64.9|MESH:D000740|SCTID:271737000|HP:0001903|ICD9:285.9|NCIT:C2869|DOID:2355 A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. DOID:2355|SNOMEDCT:271737000|NCIT:C2869|MESH:D000740 http://purl.obolibrary.org/obo/MONDO_0002280 anaemia|anemia MONDO:0002281 macrocytic anemia (disease) biolink:Disease mondo MESH:D000748|NCIT:C34381|HP:0001972|UMLS:C0002886|DOID:2361|SCTID:83414005 Anemia that is characterized by increased red blood cell volume. DOID:2361|SNOMEDCT:83414005|UMLS:C0002886|NCIT:C34381|MESH:D000748 http://purl.obolibrary.org/obo/MONDO_0002281 macrocytic Anemia|macrocytic anaemia of unspecified cause|macrocytic anemia|anemia macrocytic|D22S676|macrocytic anaemia|D22S750 MONDO:0002282 West Nile fever biolink:Disease mondo MESH:D014901|ICD10:A92.3|ICD9:066.4|SCTID:417093003|ICD9:066.40|DOID:2366|ICD10:A92.30 A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71) DOID:2366|MESH:D014901|SNOMEDCT:417093003 http://purl.obolibrary.org/obo/MONDO_0002282 West Nile virus disease or disorder|West Nile virus infectious disease|West Nile virus caused disease or disorder MONDO:0002283 neuroaxonal dystrophy biolink:Disease mondo MESH:D019150|SCTID:230365004|DOID:2367|UMLS:C0338473 A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) MESH:D019150|UMLS:C0338473|DOID:2367|SNOMEDCT:230365004 http://purl.obolibrary.org/obo/MONDO_0002283 MONDO:0014259 neuronopathy, distal hereditary motor, type 2D biolink:Disease mondo OMIM:615575 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene. http://identifiers.org/omim/615575 http://purl.obolibrary.org/obo/MONDO_0014259 neuropathy, distal hereditary motor, type 2D|neuronopathy, distal hereditary motor, type IID; HMN2D|neuronopathy, distal hereditary motor caused by mutation in FBXO38|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|HMN2D|neuronopathy, distal hereditary motor, type IID|FBXO38 neuronopathy, distal hereditary motor|HMN 2D MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome biolink:Disease mondo Orphanet:391376|UMLS:C3809971|OMIM:615574|ICD10:E72.8 ORPHA:391376|UMLS:C3809971|http://identifiers.org/omim/615574 http://purl.obolibrary.org/obo/MONDO_0014258 Asns deficiency|ASNSD|asparagine synthetase deficiency|asparagine synthetase deficiency; ASNSD ordo_disease MONDO:0014257 nephrotic syndrome, type 9 biolink:Disease mondo OMIM:615573|UMLS:C3809965 Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. UMLS:C3809965|http://identifiers.org/omim/615573 http://purl.obolibrary.org/obo/MONDO_0014257 nephrotic syndrome, type 9|nephrotic syndrome, type 9; NPHS9|NPHS9|COQ8B nephrotic syndrome|nephrotic syndrome caused by mutation in COQ8B MONDO:0014256 retinitis pigmentosa 67 biolink:Disease mondo ICD10:H35.5|OMIM:615565|DOID:0110359|UMLS:C3809954 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene. DOID:0110359|UMLS:C3809954|http://identifiers.org/omim/615565 http://purl.obolibrary.org/obo/MONDO_0014256 RP67|retinitis pigmentosa caused by mutation in NEK2|retinitis pigmentosa type 67|retinitis pigmentosa 67; RP67|retinitis pigmentosa 67|NEK2 retinitis pigmentosa MONDO:0014251 melioidosis, susceptibility to biolink:Disease mondo OMIM:615557 http://identifiers.org/omim/615557 http://purl.obolibrary.org/obo/MONDO_0014251 susceptibility to melioidosis|melioidosis, susceptibility to|melioidosis, resistance to predisposition MONDO:0014250 familial hyperprolactinemia biolink:Disease mondo SCTID:763715007|Orphanet:397685|ICD10:E22.1|OMIM:615555 Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. SNOMEDCT:763715007|ORPHA:397685|http://identifiers.org/omim/615555 http://purl.obolibrary.org/obo/MONDO_0014250 hyperprolactinemia|hyperprolactinemia; HPRL|familial isolated prolactin receptor deficiency|familial hyperprolactinemia|hereditary hyperprolactinemia (disease)|HPRL ordo_disease MONDO:0014255 complement factor b deficiency biolink:Disease mondo OMIM:615561|UMLS:C3809950 UMLS:C3809950|http://identifiers.org/omim/615561 http://purl.obolibrary.org/obo/MONDO_0014255 complement factor b deficiency|complement factor B deficiency; CFBD|CFBD MONDO:0014254 otofaciocervical syndrome 2 biolink:Disease mondo UMLS:C3714942|OMIM:615560 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene. UMLS:C3714942|http://identifiers.org/omim/615560 http://purl.obolibrary.org/obo/MONDO_0014254 otofaciocervical syndrome type 2|otofaciocervical syndrome caused by mutation in PAX1|otofaciocervical syndrome 2; OFC2|otofaciocervical syndrome 2; OTFCS2|PAX1 otofaciocervical syndrome|OFC2|OTFCS2|otofaciocervical syndrome 2 MONDO:0014253 autoimmune lymphoproliferative syndrome type 3 biolink:Disease mondo NCIT:C39577|DOID:0110119|ICD10:D47.9|UMLS:C3809928|UMLS:C1519711|OMIM:615559 A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. DOID:0110119|UMLS:C1519711|UMLS:C3809928|NCIT:C39577|http://identifiers.org/omim/615559 http://purl.obolibrary.org/obo/MONDO_0014253 autoimmune lymphoproliferative syndrome, type 3|autoimmune lymphoproliferative syndrome, type III|PRKCD autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome-undetermined variant|type 3 ALPS|ALPS3|autoimmune lymphoproliferative syndrome caused by mutation in PRKCD|common variable immunodeficiency 9|CVID9|immunodeficiency, common variable, 9, formerly|autoimmune lymphoproliferative syndrome type III|autoimmune lymphoproliferative syndrome, type III; ALPS3|immunodeficiency, common variable, 9|type 3 autoimmune lymphoproliferative syndrome|ALPS-U MONDO:0014252 familial hypobetalipoproteinemia 1 biolink:Disease mondo GARD:0002876|DOID:0111062|MESH:C566267|UMLS:CN182502|SCTID:60193003|OMIM:615558 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene. DOID:0111062|SNOMEDCT:60193003|http://identifiers.org/omim/615558|UMLS:CN182502|MESH:C566267 http://purl.obolibrary.org/obo/MONDO_0014252 hypobetalipoproteinemia, familial|FHBL1|familial hypobetalipoproteinemia type 1|hypobetalipoproteinemia, familial, type 1|FHBL|APOB hypobetalipoproteinemia|hypobetalipoproteinemia, familial, 1; FHBL1|hypobetalipoproteinemia, familial, 1|acanthocytosis with hypobetalipoproteinemia|hypobetalipoproteinemia caused by mutation in APOB|hypobetalipoproteinemia, Normotriglyceridemic UBERON:0035083 transverse process-bearing vertebra biolink:AnatomicalEntity mondo A vertebra that has a transverse process. http://purl.obolibrary.org/obo/UBERON_0035083 pygal vertebra|TP vertebra GO:0009059 macromolecule biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0009059 biopolymer biosynthetic process|macromolecule synthesis|macromolecule formation|macromolecule biosynthesis|macromolecule anabolism GO:0009058 biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. http://purl.obolibrary.org/obo/GO_0009058 anabolism|multicellular organismal biosynthetic process|formation|synthesis|single-organism biosynthetic process|biosynthesis GO:0009057 macromolecule catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0009057 biopolymer catabolic process|macromolecule breakdown|multicellular organismal macromolecule catabolic process|macromolecule catabolism|macromolecule degradation GO:0009056 catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. http://purl.obolibrary.org/obo/GO_0009056 degradation|breakdown|single-organism catabolic process|catabolism|multicellular organismal catabolic process GO:0009064 glutamine family amino acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. http://purl.obolibrary.org/obo/GO_0009064 glutamine family amino acid metabolism GO:0009063 cellular amino acid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of amino acids, organic acids containing one or more amino substituents. http://purl.obolibrary.org/obo/GO_0009063 amino acid catabolic process|cellular amino acid degradation|cellular amino acid catabolism|cellular amino acid breakdown GO:0009060 aerobic respiration biolink:OntologyClass mondo The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. http://purl.obolibrary.org/obo/GO_0009060 UBERON:0035091 extrinsic post-anal tail muscle biolink:AnatomicalEntity mondo A post-anal tail that attaches outside the tail. http://purl.obolibrary.org/obo/UBERON_0035091 UBERON:0035096 fascia of tail biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035096 GO:0009069 serine family amino acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. http://purl.obolibrary.org/obo/GO_0009069 serine family amino acid metabolism GO:0009068 aspartate family amino acid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. http://purl.obolibrary.org/obo/GO_0009068 aspartate family amino acid degradation|aspartate family amino acid breakdown|aspartate family amino acid catabolism GO:0009066 aspartate family amino acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. http://purl.obolibrary.org/obo/GO_0009066 aspartate family amino acid metabolism GO:0009074 aromatic amino acid family catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family breakdown|aromatic amino acid family catabolism|aromatic amino acid family degradation GO:0009072 aromatic amino acid family metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/GO_0009072 aromatic amino acid family metabolism GO:0009070 serine family amino acid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. http://purl.obolibrary.org/obo/GO_0009070 serine family amino acid synthesis|serine family amino acid formation|serine family amino acid anabolism|serine family amino acid biosynthesis NCBITaxon:12730 Human respirovirus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12730 Human parainfluenza virus 1|Human parainfluenza 1 virus|Parainfluenza virus type 1|human parainfluenza virus type 1 hPIV1|human parainfluenza virus type 1 HPIV-1|HPIV1|HPIV-1|Human parainfluenza virus type 1 HGNC:23287 ETHE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23287 GO:1901264 carbohydrate derivative transport biolink:OntologyClass mondo The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_1901264 MONDO:0041879 staphylococcus aureus pneumonia biolink:Disease mondo SCTID:441658007 An pneumonia caused by infection with Staphylococcus aureus. SNOMEDCT:441658007 http://purl.obolibrary.org/obo/MONDO_0041879 staphylococcus aureus pneumonia|Staphylococcus aureus pneumonia|Staphylococcus aureus caused pneumonia|pneumonia due to staphylococcus aureus|pneumonia caused by staphylococcus aureus GO:0097659 nucleic acid-templated transcription biolink:OntologyClass mondo The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). http://purl.obolibrary.org/obo/GO_0097659 SO:0000656 stRNA_encoding biolink:SequenceFeature mondo A region that can be transcribed into a small temporal RNA (stRNA). Found in roundworm development. http://purl.obolibrary.org/obo/SO_0000656 stRNA encoding SO:0000655 ncRNA biolink:SequenceFeature mondo An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product. http://purl.obolibrary.org/obo/SO_0000655 noncoding RNA|known_ncrna|INSDC_qualifier:other SO:0000651 large_subunit_rRNA biolink:SequenceFeature mondo Ribosomal RNA transcript that structures the large subunit of the ribosome. http://purl.obolibrary.org/obo/SO_0000651 LSU rRNA|large subunit rRNA|LSU RNA MONDO:0014291 autosomal dominant nonsyndromic deafness 54 biolink:Disease mondo DOID:0110580|ICD10:H90.3|OMIM:615649 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31. http://identifiers.org/omim/615649|DOID:0110580 http://purl.obolibrary.org/obo/MONDO_0014291 deafness, autosomal dominant 54; DFNA54|DFNA54|autosomal dominant deafness 54|autosomal dominant nonsyndromic deafness type 54|deafness, autosomal dominant 54 MONDO:0014290 neurodegeneration with brain iron accumulation 6 biolink:Disease mondo SCTID:732264002|UMLS:C3810230|GARD:0012571|ICD10:G23.0|OMIM:615643|Orphanet:397725|DOID:0110740 COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. UMLS:C3810230|http://identifiers.org/omim/615643|SNOMEDCT:732264002|DOID:0110740|ORPHA:397725 http://purl.obolibrary.org/obo/MONDO_0014290 neurodegeneration with brain iron accumulation caused by mutation in COASY|COASY neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation 6; NBIA6|neurodegeneration with brain iron accumulation 6|NBIA6|CoPAN|neurodegeneration with brain iron accumulation type 6|neurodegeneration with brain iron accumulation due to COASY mutation|COASY protein-associated neurodegeneration ordo_disease GO:0010032 meiotic chromosome condensation biolink:OntologyClass mondo Compaction of chromatin structure prior to meiosis in eukaryotic cells. http://purl.obolibrary.org/obo/GO_0010032 chromosome condensation involved in meiotic cell cycle GO:0010033 response to organic substance biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/GO_0010033 process resulting in tolerance to organic substance MONDO:0014295 hereditary spastic paraplegia 57 biolink:Disease mondo EFO:0009017|Orphanet:431329|DOID:0110809|UMLS:C3714897|SCTID:723826007|ICD10:G11.4|OMIM:615658|UMLS:C4510084 An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. UMLS:C4510084|SNOMEDCT:723826007|ORPHA:431329|http://identifiers.org/omim/615658|UMLS:C3714897|DOID:0110809 http://purl.obolibrary.org/obo/MONDO_0014295 hereditary spastic paraplegia caused by mutation in TFG|spastic paraplegia due to partial TFG deficiency|autosomal recessive spastic paraplegia type 57|hereditary spastic paraplegia type 57|spastic paraplegia 57, autosomal recessive|SPG57|TFG hereditary spastic paraplegia|autosomal recessive spastic paraplegia 57|spastic paraplegia 57, autosomal recessive; SPG57 ordo_disease MONDO:0014294 chromosome 15q11.2 deletion syndrome biolink:Disease mondo UMLS:C3180937|DOID:0060393|ICD10:Q93.5|OMIM:615656|GARD:0010525|Orphanet:261183 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). http://identifiers.org/omim/615656|ORPHA:261183|UMLS:C3180937|DOID:0060393 http://purl.obolibrary.org/obo/MONDO_0014294 chromosome 15q11.2 deletion syndrome|chromosome 15q11.2 deletion|15q11.2 microdeletion|15q11.2 BP1-BP2 microdeletion syndrome|Del(15)(q11.2)|15q11.2 microdeletion syndrome|chromosome 15q11.2 microdeletion|monosomy 15q11.2 ordo_malformation_syndrome GO:0022008 neurogenesis biolink:OntologyClass mondo Generation of cells within the nervous system. http://purl.obolibrary.org/obo/GO_0022008 nervous system cell generation|neural cell differentiation MONDO:0014293 autosomal dominant nonsyndromic deafness 58 biolink:Disease mondo ICD10:H90.3|OMIM:615654|DOID:0110582 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12. http://identifiers.org/omim/615654|DOID:0110582 http://purl.obolibrary.org/obo/MONDO_0014293 deafness, autosomal dominant 58; DFNA58|deafness, autosomal dominant 58|DFNA58|autosomal dominant nonsyndromic deafness type 58|autosomal dominant deafness 58 MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema biolink:Disease mondo UMLS:C3810242|SCTID:768663003|OMIM:615651|Orphanet:363540|ICD10:E75.2 UMLS:C3810242|http://identifiers.org/omim/615651|SNOMEDCT:768663003|ORPHA:363540 http://purl.obolibrary.org/obo/MONDO_0014292 leukoencephalopathy with ataxia|LKPAT|leukoencephalopathy with ataxia; LKPAT ordo_disease MONDO:0014299 schwannomatosis 2 biolink:Disease mondo UMLS:C3810283|OMIM:615670 UMLS:C3810283|http://identifiers.org/omim/615670 http://purl.obolibrary.org/obo/MONDO_0014299 SWNTS2|Schwannomatosis type 2|schwannomatosis 2|SCHWANNOMATOSIS 2; SWNTS2 MONDO:0014298 chromosome 5q12 deletion syndrome biolink:Disease mondo Orphanet:439822|OMIM:615668|UMLS:C3810282|DOID:0060421 PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. DOID:0060421|UMLS:C3810282|http://identifiers.org/omim/615668|ORPHA:439822 http://purl.obolibrary.org/obo/MONDO_0014298 chromosome 5q12 deletion syndrome|PDE4D haploinsufficiency syndrome ordo_malformation_syndrome MONDO:0014297 Joubert syndrome 22 biolink:Disease mondo UMLS:C3810278|OMIM:615665|DOID:0110991 Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene. DOID:0110991|UMLS:C3810278|http://identifiers.org/omim/615665 http://purl.obolibrary.org/obo/MONDO_0014297 Joubert syndrome 22; JBTS22|PDE6D Joubert syndrome|Joubert syndrome type 22|JBTS22|Joubert syndrome caused by mutation in PDE6D|Joubert syndrome 22 MONDO:0014296 Warburg micro syndrome 4 biolink:Disease mondo UMLS:C3810265|ICD10:Q87.0|OMIM:615663|DOID:0110719 Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene. http://identifiers.org/omim/615663|UMLS:C3810265|DOID:0110719 http://purl.obolibrary.org/obo/MONDO_0014296 Warburg micro syndrome caused by mutation in TBC1D20|WARBM4|Warburg micro syndrome type 4|micro syndrome 4|WARBURG micro syndrome 4; WARBM4|TBC1D20 Warburg micro syndrome|Warburg micro syndrome 4 MONDO:0004878 female breast upper-outer quadrant cancer biolink:Disease mondo DOID:9773|UMLS:C0153552|ICD10:C50.41|SCTID:188154003|ICD9:174.4 SNOMEDCT:188154003|DOID:9773|UMLS:C0153552 http://purl.obolibrary.org/obo/MONDO_0004878 MONDO:0002215 obsolete atypical teratoid rhabdoid tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002215 MONDO:0002216 brain sarcoma biolink:Disease mondo DOID:2132|NCIT:C5154|UMLS:C1332607 A sarcoma arising from the brain. DOID:2132|NCIT:C5154|UMLS:C1332607 http://purl.obolibrary.org/obo/MONDO_0002216 sarcoma of brain|primary brain sarcoma|sarcoma of the brain|brain sarcoma MONDO:0004877 transient neonatal thrombocytopenia biolink:Disease mondo UMLS:C0158991|ICD9:776.1|DOID:9771|COHD:435076|SCTID:23205009|ICD10:P61.0 DOID:9771|SNOMEDCT:23205009|UMLS:C0158991 http://purl.obolibrary.org/obo/MONDO_0004877 MONDO:0002217 central nervous system sarcoma biolink:Disease mondo DOID:2133|NCIT:C5153|UMLS:C1332892 A sarcoma that arises from the central nervous system. DOID:2133|NCIT:C5153|UMLS:C1332892 http://purl.obolibrary.org/obo/MONDO_0002217 CNS sarcoma|sarcoma of CNS|sarcoma of central nervous system|sarcoma of the CNS|sarcoma of the central nervous system|central nervous system sarcoma MONDO:0002218 temporal lobe cancer biolink:Disease mondo SCTID:363468009|ICD9:191.2|COHD:4180907|UMLS:C0153636|ICD10:C71.2|DOID:2135 A cancer that involves the temporal lobe. DOID:2135|SNOMEDCT:363468009|UMLS:C0153636 http://purl.obolibrary.org/obo/MONDO_0002218 malignant temporal lobe neoplasm|temporal lobe neoplasm|malignant neoplasm of temporal lobe|neoplasm of temporal lobe|cancer of temporal lobe|tumor of temporal lobe|temporal lobe cancer MONDO:0004879 senile atrophy of choroid biolink:Disease mondo ICD9:363.41|DOID:9776|SCTID:38513001|UMLS:C0154891 SNOMEDCT:38513001|DOID:9776|UMLS:C0154891 http://purl.obolibrary.org/obo/MONDO_0004879 MONDO:0002211 B cell deficiency biolink:Disease mondo NCIT:C4799|ICD9:279.03|DOID:2115 A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient. NCIT:C4799|DOID:2115 http://purl.obolibrary.org/obo/MONDO_0002211 immunoglobulin heavy chain deficiency|deficiency of humoral immunity|B cell (antibody) deficiencies|B-cell deficiency|immunoglobulin heavy chain deletion MONDO:0004874 ganglion or cyst of synovium/tendon/bursa biolink:Disease mondo ICD9:727.49|DOID:9754 DOID:9754 http://purl.obolibrary.org/obo/MONDO_0004874 UBERON:0035041 deep temporal artery biolink:AnatomicalEntity mondo The deep temporal arteries, two in number, anterior and posterior, ascend between the Temporalis and the pericranium. They supply the muscle, and anastomose with the middle temporal artery. The anterior communicates with the lacrimal artery by means of small branches which perforate the zygomatic bone and great wing of the sphenoid. http://purl.obolibrary.org/obo/UBERON_0035041 anterior deep temporal artery|deep temporal branches|posterior deep temporal artery|deep temporal artery|deep temporal arteries MONDO:0002212 pneumonic tularemia biolink:Disease mondo SCTID:45556008|ICD9:021.2|UMLS:C0339946|ICD10:A21.2|DOID:2122 A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing. UMLS:C0339946|DOID:2122|SNOMEDCT:45556008 http://purl.obolibrary.org/obo/MONDO_0002212 pulmonary tularemia|bronchopneumonic tularemia|pneumonic tularaemia MONDO:0004873 internal hemorrhoid biolink:Disease mondo ICD9:455.2|UMLS:C0265034|DOID:9749|SCTID:90458007|ICD9:455.6|NCIT:C35319 A hemorrhoid which originates above the dentate line. DOID:9749|SNOMEDCT:90458007|NCIT:C35319|UMLS:C0265034 http://purl.obolibrary.org/obo/MONDO_0004873 internal hemorrhoid MONDO:0002213 obsolete tularemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002213 MONDO:0004876 myocardial stunning biolink:Disease mondo UMLS:C0206146|MESH:D017682|DOID:9767 Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity. DOID:9767|MESH:D017682|UMLS:C0206146 http://purl.obolibrary.org/obo/MONDO_0004876 MONDO:0004875 xanthogranulomatous cholecystitis biolink:Disease mondo SCTID:448286002|GARD:0009451|NCIT:C35792|UMLS:C1337035|MESH:C536762|DOID:9766 Cholecystitis that is characterized by nodules containing lipid. DOID:9766|NCIT:C35792|MESH:C536762|SNOMEDCT:448286002|UMLS:C1337035 http://purl.obolibrary.org/obo/MONDO_0004875 CX gard_rare MONDO:0002214 brain germinoma biolink:Disease mondo UMLS:C1332606|NCIT:C6284|DOID:2127 A germinoma (disease) that involves the brain. UMLS:C1332606|DOID:2127|NCIT:C6284 http://purl.obolibrary.org/obo/MONDO_0002214 germinoma of the brain|germinoma of brain|brain germinoma (disease)|intracranial germinoma UBERON:0035045 parotid gland intralobular duct biolink:AnatomicalEntity mondo Any of the tubular canals of the parotid gland located within the parenchymal (secretory) tissue i.e. within lobules; both intercalated and striated (secretory) ducts are intralobular ducts. http://purl.obolibrary.org/obo/UBERON_0035045 MONDO:0004870 obsolete diabetic neuropathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004870 MONDO:0004872 hemorrhoid biolink:Disease mondo ICD9:455|ICD10:K64|SCTID:70153002|NCIT:C26792|MESH:D006484|DOID:9746|ICD9:455.8|UMLS:C0019112 Dilated veins in the anal canal. SNOMEDCT:70153002|NCIT:C26792|DOID:9746|UMLS:C0019112|MESH:D006484 http://purl.obolibrary.org/obo/MONDO_0004872 hemorrhoidal disease|Hemorrhoids|hemorrhoid MONDO:0002210 obsolete vulva squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002210 mammalian vulva squamous cell carcinoma MONDO:0004871 perianal hematoma biolink:Disease mondo SCTID:26373009|ICD9:455.4|ICD10:K64.5|DOID:9745|COHD:201045 DOID:9745|SNOMEDCT:26373009 http://purl.obolibrary.org/obo/MONDO_0004871 external thrombosed haemorrhoids|Thrombosed external hemorrhoids UBERON:0035049 excretory duct of salivary gland biolink:AnatomicalEntity mondo Any of the interlobular excretory ducts of a salivary gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts[MP,generalized]. http://purl.obolibrary.org/obo/UBERON_0035049 UBERON:0035048 parotid gland excretory duct biolink:AnatomicalEntity mondo Any of the interlobular excretory ducts of the parotid gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts; ultimately, the excretory ducts of the parotid gland coalesce and form a single main excretory duct (Stensen's duct) that opens into the oral cavity; excretory ducts do not change the secretory product. http://purl.obolibrary.org/obo/UBERON_0035048 MONDO:0014204 basal ganglia calcification, idiopathic, 5 biolink:Disease mondo UMLS:C3809645|OMIM:615483 UMLS:C3809645|http://identifiers.org/omim/615483 http://purl.obolibrary.org/obo/MONDO_0014204 basal ganglia calcification, idiopathic, type 5|basal ganglia calcification, idiopathic, 5; IBGC5|basal ganglia calcification, idiopathic, 5|IBGC5 MONDO:0016867 partial deletion of chromosome 2 biolink:Disease mondo ICD10:Q93.5|Orphanet:261771 ORPHA:261771 http://purl.obolibrary.org/obo/MONDO_0016867 partial monosomy of chromosome 2|partial deletion of chromosome type 2 ordo_group_of_disorders MONDO:0014203 primary ciliary dyskinesia 25 biolink:Disease mondo ICD10:Q34.8|UMLS:C3809641|DOID:0110615|OMIM:615482 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene. UMLS:C3809641|http://identifiers.org/omim/615482|DOID:0110615 http://purl.obolibrary.org/obo/MONDO_0014203 ciliary dyskinesia, primary, 25, with or without situs inversus|ciliary dyskinesia, primary, 25; CILD25|DNAAF4 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 25|CILD25|primary ciliary dyskinesia type 25|primary ciliary dyskinesia caused by mutation in DNAAF4|ciliary dyskinesia, primary, 25|primary ciliary dyskinesia 25 with or without situs inversus MONDO:0016868 partial deletion of chromosome 3 biolink:Disease mondo Orphanet:261776|ICD10:Q93.5 ORPHA:261776 http://purl.obolibrary.org/obo/MONDO_0016868 partial deletion of chromosome type 3|partial monosomy of chromosome 3 ordo_group_of_disorders MONDO:0016869 partial deletion of chromosome 4 biolink:Disease mondo Orphanet:261781 ORPHA:261781 http://purl.obolibrary.org/obo/MONDO_0016869 partial monosomy of chromosome 4|partial deletion of chromosome type 4 ordo_group_of_disorders MONDO:0014202 primary ciliary dyskinesia 24 biolink:Disease mondo ICD10:Q34.8|DOID:0110628|OMIM:615481|UMLS:C3809634 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene. http://identifiers.org/omim/615481|DOID:0110628|UMLS:C3809634 http://purl.obolibrary.org/obo/MONDO_0014202 ciliary dyskinesia, primary, 24; CILD24|primary ciliary dyskinesia 24 without situs inversus|ciliary dyskinesia, primary, 24, without situs inversus|RSPH1 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 24|primary ciliary dyskinesia caused by mutation in RSPH1|primary ciliary dyskinesia type 24|CILD24|ciliary dyskinesia, primary, 24 MONDO:0014201 developmental and epileptic encephalopathy, 18 biolink:Disease mondo Orphanet:369894|UMLS:C3809624|ICD10:G40.4|OMIM:615476 http://identifiers.org/omim/615476|ORPHA:369894|UMLS:C3809624 http://purl.obolibrary.org/obo/MONDO_0014201 epileptic encephalopathy, early infantile, 18; EIEE18|DEE18|epileptic encephalopathy, early infantile, 18|EIEE18|epileptic encephalopathy, early infantile, type 18|early infantile epileptic encephalopathy without suppression burst ordo_disease MONDO:0014208 Charcot-Marie-Tooth disease type 2R biolink:Disease mondo OMIM:615490|Orphanet:397968|UMLS:C3809655|GARD:0012451|ICD10:G60.0|DOID:0110161 Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene. UMLS:C3809655|ORPHA:397968|http://identifiers.org/omim/615490|DOID:0110161 http://purl.obolibrary.org/obo/MONDO_0014208 Charcot-Marie-Tooth neuropathy, type 2R|autosomal recessive axonal Charcot-Marie-Tooth disease type 2R|Charcot-Marie-Tooth disease, axonal, type 2R|CMT2R|TRIM2 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2R; CMT2R|Charcot-Marie-Tooth neuropathy type 2R|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R|Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2 ordo_disease|gard_rare MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion biolink:Disease mondo UMLS:CN202208|ICD10:Q87.8|Orphanet:261638 UMLS:CN202208|ORPHA:261638 http://purl.obolibrary.org/obo/MONDO_0016863 Okihiro syndrome due to monosomy 20q13|Okihiro syndrome due to del(20)(q13)|Duane-radial ray syndrome due to monosomy 20q13 ordo_etiological_subtype MONDO:0016864 Okihiro syndrome due to a point mutation biolink:Disease mondo Orphanet:261647|UMLS:CN202209|ICD10:Q87.8 UMLS:CN202209|ORPHA:261647 http://purl.obolibrary.org/obo/MONDO_0016864 Duane-radial ray syndrome due to a point mutation ordo_etiological_subtype MONDO:0014207 age related macular degeneration 14 biolink:Disease mondo OMIM:615489|DOID:0110026 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. http://identifiers.org/omim/615489|DOID:0110026 http://purl.obolibrary.org/obo/MONDO_0014207 ARMD14|macular degeneration, age-related, 14; ARMD14|macular Degeneration, age-related, reduced risk of|macular degeneration, age-related, 14|macular Degeneration, age-related, type 14|age related macular degeneration type 14 MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency biolink:Disease mondo Orphanet:440427|ICD10:J84.0|UMLS:C3809651|OMIM:615486 UMLS:C3809651|http://identifiers.org/omim/615486|ORPHA:440427 http://purl.obolibrary.org/obo/MONDO_0014206 interstitial lung and liver disease; ILLD|ILLD|interstitial lung and liver disease|hereditary pulmonary alveolar proteinosis with hepatic involvement|infantile liver failure syndrome 2, formerly|PAP, Reunion island type|infantile liver failure syndrome 2|pulmonary alveolar proteinosis, Reunion Island|pulmonary alveolar proteinosis, Reunion island type ordo_disease MONDO:0016865 Kleefstra syndrome due to a point mutation biolink:Disease mondo ICD10:Q87.8|Orphanet:261652|UMLS:CN202210 UMLS:CN202210|ORPHA:261652 http://purl.obolibrary.org/obo/MONDO_0016865 ordo_etiological_subtype MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome biolink:Disease mondo Orphanet:352577|UMLS:C3809650|ICD10:Q87.0|OMIM:615485 UMLS:C3809650|http://identifiers.org/omim/615485|ORPHA:352577 http://purl.obolibrary.org/obo/MONDO_0014205 BAINBRIDGE-ROPERS syndrome|BRPS|BAINBRIDGE-ROPERS syndrome; BRPS|Bainbridge-Roppers syndrome ordo_disease MONDO:0016866 partial deletion of chromosome 1 biolink:Disease mondo Orphanet:261766|ICD10:Q93.5 ORPHA:261766 http://purl.obolibrary.org/obo/MONDO_0016866 partial deletion of chromosome type 1|partial monosomy of chromosome 1 ordo_group_of_disorders HGNC:11283 SRC biolink:OntologyClass mondo http://identifiers.org/hgnc/11283 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion biolink:Disease mondo UMLS:CN202203|Orphanet:261584|ICD10:D12.6 UMLS:CN202203|ORPHA:261584 http://purl.obolibrary.org/obo/MONDO_0016860 colorectal adenomatous polyposis due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|FAP due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to del(5)(q22.2) ordo_etiological_subtype MONDO:0016861 Alagille syndrome due to 20p12 microdeletion biolink:Disease mondo Orphanet:261600|ICD10:Q44.7|UMLS:CN202205 UMLS:CN202205|ORPHA:261600 http://purl.obolibrary.org/obo/MONDO_0016861 Alagille-Watson syndrome due to monosomy 20p12|Alagille syndrome due to del(20)(p12)|Alagille syndrome due to monosomy 20p12|syndromic bile duct paucity due to monosomy 20p12|Arteriohepatic dysplasia due to monosomy 20p12 ordo_etiological_subtype NCBITaxon:34105 Streptobacillus moniliformis organism taxon mondo PMID:24912824|PMID:25858245|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_34105 Haverhillia moniliformis|Proactinomyces muris|Streptothrix muris ratti|Actinomyces muris|Asterococcus muris|Nocardia muris|Actinomyces muris ratti|Haverhillia multiformis|"Actinobacillus muris" (de Mello and Pais 1918) Wilson and Miles 1955 HGNC:11281 SRA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11281 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation biolink:Disease mondo OMIM:118450|UMLS:CN202206|Orphanet:261619|ICD10:Q44.7|UMLS:C1956125 UMLS:CN202206|ORPHA:261619|http://identifiers.org/omim/118450|UMLS:C1956125 http://purl.obolibrary.org/obo/MONDO_0016862 Alagille-Watson syndrome|Alagille-Watson syndrome due to a JAG1 point mutation|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia due to a JAG1 point mutation|Alagille syndrome 1; ALGS1|syndromic bile duct paucity due to a JAG1 point mutation|Alagille syndrome 1|cholestasis with peripheral pulmonary stenosis|Alagille syndrome type 1|arteriohepatic dysplasia|ALGS1 ordo_etiological_subtype HGNC:11280 SQSTM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11280 MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities biolink:Disease mondo Orphanet:369929|ICD10:E26.0|UMLS:C3809609|OMIM:615474 http://identifiers.org/omim/615474|UMLS:C3809609|ORPHA:369929 http://purl.obolibrary.org/obo/MONDO_0014200 aldosterone-secreting adenoma with seizures and neurological abnormalities|primary aldosteronism, seizures, and neurologic abnormalities; PASNA|apa with seizures and neurological abnormalities|PASNA|Conn adenoma with seizures and neurological abnormalities|primary aldosteronism, seizures, and neurologic abnormalities ordo_disease MONDO:0002208 obsolete vulva adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002208 MONDO:0002209 heel spur biolink:Disease mondo MESH:D036982|UMLS:C0158322|COHD:73560|SCTID:55260003|ICD10:M77.3|DOID:210|ICD10:M77.30|ICD9:726.73 A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related. SNOMEDCT:55260003|MESH:D036982|DOID:210|UMLS:C0158322 http://purl.obolibrary.org/obo/MONDO_0002209 calcaneus exostosis|calcaneal spur NCBITaxon:34104 Streptobacillus organism taxon mondo PMID:26438009|PMID:24912824|PMID:25858245|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_34104 Haverhillia HGNC:11285 SRD5A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11285 MONDO:0004889 total central choroidal atrophy biolink:Disease mondo UMLS:C0154898|SCTID:392049002|ICD9:363.54|DOID:9820 UMLS:C0154898|DOID:9820|SNOMEDCT:392049002 http://purl.obolibrary.org/obo/MONDO_0004889 total central choroidal atrophy|total central choroid atrophy|choroidal dystrophy, serpiginous|central gyrate choroidal dystrophy|total central dystrophy of choroid|helicoid choroid dystrophy MONDO:0002226 tuberculous oophoritis biolink:Disease mondo SCTID:84194006|UMLS:C0275932|ICD9:016.60|ICD10:A18.17|DOID:2148|ICD9:016.6 An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary. UMLS:C0275932|SNOMEDCT:84194006|DOID:2148 http://purl.obolibrary.org/obo/MONDO_0002226 MONDO:0002227 ovarian lymphoma biolink:Disease mondo UMLS:C1518720|DOID:2150|NCIT:C40021 A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected. UMLS:C1518720|NCIT:C40021|DOID:2150 http://purl.obolibrary.org/obo/MONDO_0002227 ovarian lymphoma|primary ovarian lymphoma|ovary lymphoma|lymphoma of ovary MONDO:0004888 partial circumpapillary choroid dystrophy biolink:Disease mondo ICD9:363.51|UMLS:C0154895|DOID:9811|SCTID:193466003 UMLS:C0154895|SNOMEDCT:193466003|DOID:9811 http://purl.obolibrary.org/obo/MONDO_0004888 SO:0000673 transcript biolink:SequenceFeature mondo An RNA synthesized on a DNA or RNA template by an RNA polymerase. http://purl.obolibrary.org/obo/SO_0000673 INSDC_feature:misc_RNA UBERON:0035050 excretory duct biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035050 MONDO:0002228 obsolete malignant ovarian surface epithelial-stromal neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002228 MONDO:0002229 ovarian epithelial tumor biolink:Disease mondo NCIT:C4381|DOID:2152|SCTID:237057005|ONCOTREE:OVT|UMLS:C0341823|ICD9:239.5 A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor. UMLS:C0341823|NCIT:C4381|SNOMEDCT:237057005|DOID:2152 http://purl.obolibrary.org/obo/MONDO_0002229 epithelial tumor of ovary|ovarian surface epithelial-stromal tumor|ovary epithelial cancer|ovary epithelial neoplasm|ovarian surface-epithelial stromal neoplasm|epithelial tumor of the ovary|epithelial neoplasm of the ovary|OVT|ovarian epithelial tumor|epithelial neoplasm of ovary MONDO:0002222 urethra leiomyoma biolink:Disease mondo NCIT:C6171|UMLS:C1336888|DOID:2142 A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. UMLS:C1336888|DOID:2142|NCIT:C6171 http://purl.obolibrary.org/obo/MONDO_0002222 leiomyoma of the urethra|leiomyoma of urethra|urethra leiomyoma|urethral leiomyoma MONDO:0004885 choroidal sclerosis biolink:Disease mondo DOID:980|ICD9:363.4|SCTID:406446000|ICD9:363.40|ICD10:H31.10|ICD10:H31.1|MESH:C535358 A neurodegenerative disease that involves the optic choroid. DOID:980|MESH:C535358|SNOMEDCT:406446000 http://purl.obolibrary.org/obo/MONDO_0004885 neurodegenerative disease of optic choroid|optic choroid neurodegenerative disease|choroidal degenerations MONDO:0004884 eye degenerative disease biolink:Disease mondo ICD9:360.4|ICD9:360.40|ICD9:360.2|SCTID:62585004|ICD10:H44.30|ICD9:360.20|ICD9:360.29|DOID:9799|UMLS:C0154777|ICD10:H44.5 A neurodegenerative disease that involves the eye. DOID:9799|UMLS:C0154777|SNOMEDCT:62585004 http://purl.obolibrary.org/obo/MONDO_0004884 degenerative disorder of globe|eye neurodegenerative disease|neurodegenerative disease of eyeball of camera-type eye|degenerative disorder of eye|eyeball of camera-type eye neurodegenerative disease MONDO:0002223 ovarian malignant mesothelioma biolink:Disease mondo UMLS:C1518721|NCIT:C40444|DOID:2143 A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement. UMLS:C1518721|NCIT:C40444|DOID:2143 http://purl.obolibrary.org/obo/MONDO_0002223 malignant mesothelioma (disease) of ovary|ovary malignant mesothelioma (disease)|ovarian malignant mesothelioma MONDO:0002224 malignant ovarian cyst biolink:Disease mondo UMLS:C0235770|DOID:2145|NCIT:C3843 A cystic cancerous tumor arising from the ovary. NCIT:C3843|UMLS:C0235770|DOID:2145 http://purl.obolibrary.org/obo/MONDO_0002224 ovarian cyst (disease), malignant|malignant ovarian cyst|malignant ovarian cyst (disease) MONDO:0004887 obsolete polyarteritis nodosa biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004887 MONDO:0002225 ovarian sarcoma biolink:Disease mondo SCTID:423627007|NCIT:C8267|DOID:2146|UMLS:C0280746 A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor. SNOMEDCT:423627007|NCIT:C8267|DOID:2146|UMLS:C0280746 http://purl.obolibrary.org/obo/MONDO_0002225 ovary sarcoma|sarcoma of the ovary|ovarian sarcoma|sarcoma of ovary MONDO:0004886 diffuse secondary choroid atrophy biolink:Disease mondo DOID:981|UMLS:C0154892|ICD9:363.42|ICD10:H31.12|SCTID:193463006 UMLS:C0154892|SNOMEDCT:193463006|DOID:981 http://purl.obolibrary.org/obo/MONDO_0004886 UBERON:0035053 interlobular duct of salivary gland biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035053 MONDO:0004881 myositis fibrosa biolink:Disease mondo NCIT:C26985|ICD10:M60.1|COHD:75048|SCTID:55925001|DOID:9788|ICD9:728.81|UMLS:C0158362 A form of myositis that is characterized by the formation of connective tissue within the muscle. NCIT:C26985|UMLS:C0158362|SNOMEDCT:55925001|DOID:9788 http://purl.obolibrary.org/obo/MONDO_0004881 interstitial myositis MONDO:0004880 bowel dysfunction biolink:Disease mondo ICD9:564.9|UMLS:C2004461|DOID:9779|SCTID:235594008|ICD10:K59.9 Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction. UMLS:C2004461|SNOMEDCT:235594008|DOID:9779 http://purl.obolibrary.org/obo/MONDO_0004880 lower digestive tract disease|disease of lower digestive tract GO:0048636 positive regulation of muscle organ development biolink:OntologyClass mondo Any process that activates, maintains or increases the rate of muscle development. http://purl.obolibrary.org/obo/GO_0048636 up regulation of muscle development|stimulation of muscle development|up-regulation of muscle development|activation of muscle development|upregulation of muscle development MONDO:0002220 tooth hard tissue disease biolink:Disease mondo ICD10:K03.8|SCTID:46557008|ICD9:521.89|ICD10:K03|ICD9:521.8|ICD10:K03.89|UMLS:C0155926|DOID:214 DOID:214|SNOMEDCT:46557008|UMLS:C0155926 http://purl.obolibrary.org/obo/MONDO_0002220 teeth hard tissue diseases|disorder of hard tissues of teeth|teeth hard tissue disease MONDO:0004883 hereditary choroidal atrophy biolink:Disease mondo DOID:9794|ICD9:363.5|UMLS:C0154893|ICD10:H31.2|SCTID:74469006|ICD9:363.50|ICD10:H31.20 DOID:9794|UMLS:C0154893|SNOMEDCT:74469006 http://purl.obolibrary.org/obo/MONDO_0004883 GO:0048635 negative regulation of muscle organ development biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development. http://purl.obolibrary.org/obo/GO_0048635 downregulation of muscle development|down regulation of muscle development|inhibition of muscle development|down-regulation of muscle development MONDO:0002221 urethral urothelial papilloma biolink:Disease mondo NCIT:C5061|UMLS:C1519826|DOID:2140 Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003 DOID:2140|NCIT:C5061|UMLS:C1519826 http://purl.obolibrary.org/obo/MONDO_0002221 urethra urothelial papilloma|urethral urothelial papilloma MONDO:0004882 angioid streaks of choroid biolink:Disease mondo ICD9:363.43|DOID:979|SCTID:86103006|UMLS:C0002983 A angioid streaks that involves the optic choroid. SNOMEDCT:86103006|UMLS:C0002983|DOID:979 http://purl.obolibrary.org/obo/MONDO_0004882 angioid streaks of optic choroid|optic choroid angioid streaks GO:0048634 regulation of muscle organ development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of muscle development. http://purl.obolibrary.org/obo/GO_0048634 MONDO:0016849 obsolete Nakajo-Nishimura syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016849 MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation biolink:Disease mondo ICD10:Q43.1|Orphanet:261552|UMLS:CN202199 UMLS:CN202199|ORPHA:261552 http://purl.obolibrary.org/obo/MONDO_0016856 Hirschsprung disease and intellectual disability due to a ZEB2 point mutation ordo_etiological_subtype MONDO:0016857 blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome biolink:Disease mondo Orphanet:261559|ICD10:Q10.3|UMLS:CN202200 Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay. UMLS:CN202200|ORPHA:261559 http://purl.obolibrary.org/obo/MONDO_0016857 ordo_etiological_subtype MONDO:0041825 bacterial meningitis caused by gram-negative bacteria biolink:Disease mondo SCTID:425887005|UMLS:C0854215 UMLS:C0854215|SNOMEDCT:425887005 http://purl.obolibrary.org/obo/MONDO_0041825 bacterial meningitis caused by gram-negative bacteria|meningitis with gram negative bacteria|bacterial meningitis due to gram-negative bacteria|gram-negative bacterial meningitis MONDO:0016858 blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome biolink:Disease mondo ICD10:Q10.3|Orphanet:261572|UMLS:CN202201 Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure. UMLS:CN202201|ORPHA:261572 http://purl.obolibrary.org/obo/MONDO_0016858 blepharophimosis types 1 and 2 due to a point mutation ordo_etiological_subtype MONDO:0016859 blepharophimosis-epicanthus inversus-ptosis due to copy number variations biolink:Disease mondo Orphanet:261579|ICD10:Q10.3|UMLS:CN202202 Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement. UMLS:CN202202|ORPHA:261579 http://purl.obolibrary.org/obo/MONDO_0016859 blepharophimosis types 1 and 2 due to copy number variations|blepharophimosis-epicanthus inversus-ptosis due to a CNV ordo_etiological_subtype MONDO:0016852 paternal uniparental disomy of chromosome X biolink:Disease mondo Orphanet:261524|ICD10:Q99.8 ORPHA:261524 http://purl.obolibrary.org/obo/MONDO_0016852 paternal uniparental disomy of chromosome type X|UPD(X)pat ordo_malformation_syndrome MONDO:0016853 ring chromosome Y biolink:Disease mondo SCTID:763407008|ICD10:Q98.6|Orphanet:261529 Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. ORPHA:261529|SNOMEDCT:763407008 http://purl.obolibrary.org/obo/MONDO_0016853 Ring chromosome Y syndrome|r(Y)|Ring chromosome type Y ordo_malformation_syndrome MONDO:0016854 49,XXXYY syndrome biolink:Disease mondo UMLS:CN202197|Orphanet:261534|GARD:0010922|ICD10:Q98.8 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person. UMLS:CN202197|ORPHA:261534 http://purl.obolibrary.org/obo/MONDO_0016854 XXXYY syndrome|49, XXXYY syndrome gard_rare|ordo_malformation_syndrome MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 biolink:Disease mondo UMLS:CN202198|ICD10:Q43.1|Orphanet:261537 UMLS:CN202198|ORPHA:261537 http://purl.obolibrary.org/obo/MONDO_0016855 Hirschsprung disease and intellectual disability due to 2q22 microdeletion|Mowat-Wilson syndrome due to monosomy type 2q22|Hirschsprung disease and intellectual disability due to del(2)(q22)|Mowat-Wilson syndrome due to del(2)q(22)|Mowat-Wilson syndrome due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to monosomy 2q22 ordo_etiological_subtype MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 biolink:Disease mondo Orphanet:261501|UMLS:C4518083|SCTID:733626002|ICD10:H35.5|UMLS:CN202196 Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. UMLS:C4518083|UMLS:CN202196|ORPHA:261501|SNOMEDCT:733626002 http://purl.obolibrary.org/obo/MONDO_0016850 atypical Norrie disease due to Xp11.3 microdeletion|atypical Norrie disease due to del(X)(p11.3) ordo_malformation_syndrome SO:0000669 sequence_rearrangement_feature biolink:SequenceFeature mondo A feature where a segment of DNA has been rearranged from what it was in the parent cell. http://purl.obolibrary.org/obo/SO_0000669 sequence rearrangement feature MONDO:0016851 maternal uniparental disomy of chromosome X biolink:Disease mondo ICD10:Q99.8|Orphanet:261519 ORPHA:261519 http://purl.obolibrary.org/obo/MONDO_0016851 maternal uniparental disomy of chromosome type X|UPD(X)mat ordo_malformation_syndrome MONDO:0002219 paraurethral gland neoplasm biolink:Disease mondo SCTID:126884005|DOID:2139|UMLS:C0341766|ICD9:239.5 A neoplasm (disease) that involves the paraurethral gland. DOID:2139|SNOMEDCT:126884005|UMLS:C0341766 http://purl.obolibrary.org/obo/MONDO_0002219 tumor of paraurethral gland|paraurethral gland neoplasm (disease)|neoplasm of paraurethral glands|tumor of the paraurethral gland|neoplasm of paraurethral gland|paraurethral gland tumor SO:0000663 tRNA_encoding biolink:SequenceFeature mondo A region that can be transcribed into a transfer RNA (tRNA). http://purl.obolibrary.org/obo/SO_0000663 tRNA encoding MONDO:0004856 rosacea conjunctivitis biolink:Disease mondo SCTID:10128002|UMLS:C0155152|DOID:9709|ICD9:372.31|COHD:378429 UMLS:C0155152|SNOMEDCT:10128002|DOID:9709 http://purl.obolibrary.org/obo/MONDO_0004856 HGNC:23247 DNAL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23247 MONDO:0004855 tenosynovitis biolink:Disease mondo UMLS:C0039520|MESH:D013717|DOID:970|EFO:1001435|SCTID:67801009 Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. SNOMEDCT:67801009|UMLS:C0039520|MESH:D013717|DOID:970 http://purl.obolibrary.org/obo/MONDO_0004855 Inflammation of tendon sheath|inflammation of tendon sheath|Tenosynovitides|tendon sheath inflammation MONDO:0004858 occlusion of gallbladder biolink:Disease mondo DOID:9714|SCTID:197416005|UMLS:C0156214|ICD9:575.2|ICD10:K82.0|COHD:192363 Blockage of the normal flow of the contents of the gallbladder. UMLS:C0156214|SNOMEDCT:197416005|DOID:9714|NCIT:C78308 http://purl.obolibrary.org/obo/MONDO_0004858 obstruction of gallbladder MONDO:0004857 tendinitis biolink:Disease mondo ICD10:M77.9|DOID:971|MESH:D052256|SCTID:34840004|UMLS:C0039503|NCIT:C97141 Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body. DOID:971|MESH:D052256|NCIT:C97141|SNOMEDCT:34840004|UMLS:C0039503 http://purl.obolibrary.org/obo/MONDO_0004857 inflammation of tendon|tendon inflammation|tendonitis HGNC:23246 MYPN biolink:OntologyClass mondo http://identifiers.org/hgnc/23246 NCBITaxon:10114 Rattus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10114 rats|rat MONDO:0004852 gonococcal keratitis biolink:Disease mondo ICD9:098.43|DOID:9697|ICD10:A54.33|UMLS:C0153214|SCTID:40149008 UMLS:C0153214|DOID:9697|SNOMEDCT:40149008 http://purl.obolibrary.org/obo/MONDO_0004852 MONDO:0004851 toxic myocarditis biolink:Disease mondo UMLS:C0155691|ICD9:422.93|DOID:9694|SCTID:31993003 UMLS:C0155691|DOID:9694|SNOMEDCT:31993003 http://purl.obolibrary.org/obo/MONDO_0004851 NCBITaxon:10116 Rattus norvegicus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10116 rats|brown rat|rat|Norway rat MONDO:0004854 ophthalmia neonatorum biolink:Disease mondo DOID:9699|NCIT:C116815|ICD10:P39.1|SCTID:34298002|COHD:372842|UMLS:C0029076|MESH:D009878|ICD9:771.6 Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms. UMLS:C0029076|DOID:9699|SNOMEDCT:34298002|MESH:D009878|NCIT:C116815 http://purl.obolibrary.org/obo/MONDO_0004854 gonococcal conjunctivitis (neonatorum)|gonococcal conjunctivitis|neonatal conjunctivitis|gonococcal ophthalmia neonatorum MONDO:0004853 gonococcal endophthalmia biolink:Disease mondo DOID:9698|ICD10:A54.39|UMLS:C0153213|SCTID:111807001|ICD9:098.42 DOID:9698|UMLS:C0153213|SNOMEDCT:111807001 http://purl.obolibrary.org/obo/MONDO_0004853 MONDO:0004850 obsolete yellow fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004850 GO:0048646 anatomical structure formation involved in morphogenesis biolink:OntologyClass mondo The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/GO_0048646 formation of an anatomical structure involved in morphogenesis MONDO:0016838 16q24.3 microdeletion syndrome biolink:Disease mondo UMLS:C4304594|Orphanet:261250|UMLS:CN202174|GARD:0010935|ICD10:Q93.5|SCTID:719580004 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. UMLS:C4304594|SNOMEDCT:719580004|UMLS:CN202174|ORPHA:261250 http://purl.obolibrary.org/obo/MONDO_0016838 Del(16)(q24.3)|monosomy 16q24.3|chromosome 16q24.3 microdeletion syndrome ordo_malformation_syndrome|gard_rare MONDO:0016839 distal 17p13.3 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|UMLS:CN202175|SCTID:764696007|Orphanet:261257 Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. SNOMEDCT:764696007|UMLS:CN202175|ORPHA:261257 http://purl.obolibrary.org/obo/MONDO_0016839 distal del(17)(p13.3)|distal monosomy 17p13.3 ordo_malformation_syndrome MONDO:0016845 21q22.11q22.12 microdeletion syndrome biolink:Disease mondo UMLS:CN202185|Orphanet:261323|ICD10:Q93.5 ORPHA:261323|UMLS:CN202185 http://purl.obolibrary.org/obo/MONDO_0016845 Del(21)(q22.11q22.12)|21q22.11-q22.12 microdeletion syndrome|monosomy 21q22.11q22.12|monosomy 21q22.11-q22.12 ordo_malformation_syndrome MONDO:0016846 distal 22q11.2 microduplication syndrome biolink:Disease mondo UMLS:CN202187|ICD10:Q92.3|Orphanet:261337|SCTID:764524005 Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported. UMLS:CN202187|SNOMEDCT:764524005|ORPHA:261337 http://purl.obolibrary.org/obo/MONDO_0016846 distal trisomy 22q11.2|distal dup(22)(q11.2) ordo_malformation_syndrome GO:0061620 glycolytic process through glucose-6-phosphate biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, occurring through a glucose-6-phosphate intermediate, with the concomitant production of a small amount of ATP. http://purl.obolibrary.org/obo/GO_0061620 MONDO:0016847 trisomy 1q biolink:Disease mondo ICD10:Q92.2|SCTID:768927001|Orphanet:261344 Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. SNOMEDCT:768927001|ORPHA:261344 http://purl.obolibrary.org/obo/MONDO_0016847 Duplication 1q|trisomy type 1q ordo_malformation_syndrome MONDO:0016848 juvenile temporal arteritis biolink:Disease mondo SCTID:722020006|GARD:0003068|UMLS:C0751547|Orphanet:26137|ICD10:L95.8 Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs. UMLS:C0751547|SNOMEDCT:722020006|ORPHA:26137 http://purl.obolibrary.org/obo/MONDO_0016848 non-giant cell granulomatous temporal arteritis with eosinophilia|JTA|juvenile polymyalgia rheumatica|juvenile cranial arteritis|JGCA|JPMR|juvenile giant cell arteritis ordo_disease|gard_rare NCBITaxon:85708 Porcine circovirus 2 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_85708 Porcine circovirus-2|Porcine circovirus type 2|PCV2|Porcine circovirus Type II MONDO:0016841 20p12.3 microdeletion syndrome biolink:Disease mondo UMLS:C4304539|GARD:0012492|UMLS:CN202180|ICD10:Q93.5|SCTID:719650004|Orphanet:261295 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. SNOMEDCT:719650004|UMLS:CN202180|ORPHA:261295|UMLS:C4304539 http://purl.obolibrary.org/obo/MONDO_0016841 Del(20)(p12.3)|monosomy 20p12.3 ordo_malformation_syndrome|gard_rare GO:0061622 glycolytic process through glucose-1-phosphate biolink:OntologyClass mondo The chemical reactions and pathways through a glucose-1-phosphate intermediate that result in the catabolism of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP. http://purl.obolibrary.org/obo/GO_0061622 MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|UMLS:C4510306|Orphanet:261304|UMLS:CN202182|SCTID:724070005 Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. UMLS:C4510306|SNOMEDCT:724070005|ORPHA:261304|UMLS:CN202182 http://purl.obolibrary.org/obo/MONDO_0016842 paternal del(20)(q13.2q13.3)|paternal monosomy 20q13.2-q13.3|paternal 20q13.2-q13.3 microdeletion syndrome|paternal monosomy 20q13.2q13.3 ordo_malformation_syndrome MONDO:0016843 20q13.33 microdeletion syndrome biolink:Disease mondo UMLS:CN202183|SCTID:733520002|Orphanet:261311|UMLS:C4518823|ICD10:Q93.5 20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. SNOMEDCT:733520002|ORPHA:261311|UMLS:CN202183|UMLS:C4518823 http://purl.obolibrary.org/obo/MONDO_0016843 Del(20)(q13.33)|monosomy 20q13.33 ordo_malformation_syndrome MONDO:0016844 trisomy 20p biolink:Disease mondo Orphanet:261318|GARD:0005333|MESH:C535371|ICD10:Q92.2|ICD9:758.5|SCTID:111311004 Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. UMLS:C2930888|ORPHA:261318|SNOMEDCT:111311004|UMLS:C0265480|MESH:C535371 http://purl.obolibrary.org/obo/MONDO_0016844 20p duplication|Duplication 20p|Duplication of 20p|partial trisomy of chromosome 20p|trisomy 20p|chromosome 20p duplication|partial duplication of chromosome 20p|partial trisomy of the short arm of chromosome 20|partial trisomy 20p|dup(20p)|20p trisomy|trisomy type 20p|partial duplication of the short arm of chromosome 20 gard_rare|ordo_malformation_syndrome GO:0061626 pharyngeal arch artery morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of a pharyngeal arch artery is generated and organized. The pharyngeal arch arteries are a series of six paired embryological vascular structures, the development of which give rise to several major arteries, such as the stapedial artery, the middle meningeal artery, the internal carotid artery and the pulmonary artery. http://purl.obolibrary.org/obo/GO_0061626 aortic arch artery morphogenesis MONDO:0016840 trisomy 17p biolink:Disease mondo UMLS:C0795865|MESH:C538048|Orphanet:261290|ICD10:Q92.2|GARD:0005318|SCTID:717049005 Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. SNOMEDCT:717049005|MESH:C538048|ORPHA:261290|UMLS:C0795865 http://purl.obolibrary.org/obo/MONDO_0016840 dup(17p)|trisomy type 17p|chromosome 17p duplication|partial trisomy 17p|17p trisomy|17p duplication|Duplication 17p ordo_malformation_syndrome MONDO:0004849 pulmonary emphysema biolink:Disease mondo DOID:9675|ICD10:J43|SCTID:87433001|EFO:0000464|ICD9:492|ICD9:492.8|NCIT:C3348|MESH:D004646|GARD:0011937|MESH:D011656|ICD10:J43.8|COHD:261325|DC:0000512 A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. MESH:D011656|DOID:9675|MESH:D004646|NCIT:C3348|SNOMEDCT:87433001 http://purl.obolibrary.org/obo/MONDO_0004849 emphysema|emphysema, pulmonary MONDO:0004848 ulcerative stomatitis biolink:Disease mondo NCIT:C35039|UMLS:C0038367|ICD9:528.00|DOID:9673|SCTID:450005|ICD10:K12.1 Inflammation of the mouth mucosa associated with the presence of ulcers. UMLS:C0038367|DOID:9673|SNOMEDCT:450005|NCIT:C35039 http://purl.obolibrary.org/obo/MONDO_0004848 ulcerative stomatitis MONDO:0002204 transient arthritis biolink:Disease mondo ICD9:716.4|ICD10:M12.8|SCTID:6011000119108|DOID:2092|UMLS:C0152083|ICD9:716.40|UMLS:C3887596 Arthritis that is not permanent. DOID:2092|SNOMEDCT:6011000119108|UMLS:C0152083|UMLS:C3887596 http://purl.obolibrary.org/obo/MONDO_0002204 transient arthropathy MONDO:0004867 upper respiratory tract disease biolink:Disease mondo ICD9:478.1|ICD9:478.19|DOID:974|SCTID:201060008|ICD9:478.9 A disease involving the upper respiratory tract. SNOMEDCT:201060008|DOID:974 http://purl.obolibrary.org/obo/MONDO_0004867 disease of upper respiratory tract|upper respiratory tract disease or disorder|disorder of upper respiratory tract|disorder of upper respiratory tract|upper respiratory tract disease|disease or disorder of upper respiratory tract MONDO:0004866 eustachian tube disease biolink:Disease mondo ICD9:381.9|UMLS:C0271468|ICD9:381.89|ICD9:381.8|ICD10:H68|DOID:9739|SCTID:69494008 A disease involving the pharyngotympanic tube. DOID:9739|UMLS:C0271468|SNOMEDCT:69494008 http://purl.obolibrary.org/obo/MONDO_0004866 disease or disorder of pharyngotympanic tube|eustachian tube disorder|pharyngotympanic tube disease or disorder|disease of eustachian tube|disease of pharyngotympanic tube|disorder of eustachian tube|disorder of pharyngotympanic tube|auditory tube disorder|pharyngotympanic tube disease|disorder of pharyngotympanic tube MONDO:0002205 vulvar melanoma (disease) biolink:Disease mondo NCIT:C40329|SCTID:254896002|DOID:2093|HP:0030418|UMLS:C0241989 A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria. DOID:2093|SNOMEDCT:254896002|NCIT:C40329|UMLS:C0241989 http://purl.obolibrary.org/obo/MONDO_0002205 mammalian vulva melanoma (disease)|vulvar melanoma|mammalian vulva melanoma|malignant melanoma of vulva|melanoma (disease) of mammalian vulva MONDO:0002206 sweat gland cancer biolink:Disease mondo UMLS:C1321904|DOID:2095|ICD10:C44|NCIT:C4810 A malignant neoplasm that affects the sweat glands. DOID:2095|NCIT:C4810|UMLS:C1321904 http://purl.obolibrary.org/obo/MONDO_0002206 sweat gland neoplasms, malignant|malignant tumor of the sweat gland|sweat gland cancer|malignant neoplasm of sweat gland|malignant neoplasm of the sweat gland|malignant sweat gland neoplasm|cancer of sweat gland|malignant tumor of sweat gland MONDO:0004869 pelvic varices biolink:Disease mondo DOID:9742|ICD9:456.5|SCTID:17406005|ICD10:I86.2|UMLS:C0155795|COHD:197311 A varicose disease that involves the pelvic region of trunk. UMLS:C0155795|DOID:9742|SNOMEDCT:17406005 http://purl.obolibrary.org/obo/MONDO_0004869 varicose disease of pelvic region of trunk|pelvic region of trunk varicose disease MONDO:0004868 biliary tract disease biolink:Disease mondo DOID:9741|ICD9:576.9|SCTID:105997008|ICD10:K83.9|MESH:D001660 A disease involving the biliary tree. DOID:9741|MESH:D001660|SNOMEDCT:105997008 http://purl.obolibrary.org/obo/MONDO_0004868 disorder of biliary tree|disease or disorder of biliary tree|disease of biliary tree|biliary tree disease|biliary tree disease or disorder|disorder of biliary tree MONDO:0002207 vulval Paget disease biolink:Disease mondo DOID:2097|SCTID:254898001|ICD9:233.39|UMLS:C1275217|NCIT:C4027 An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei. DOID:2097|SNOMEDCT:254898001|UMLS:C1275217|NCIT:C4027 http://purl.obolibrary.org/obo/MONDO_0002207 vulva Paget's disease|Paget's disease of the vulva|Paget's disease of vulva|vulvar Paget's disease|vulval Paget disease|Paget disease of the vulva|mammalian vulva Paget disease|vulval Paget's disease MONDO:0004863 purulent endophthalmitis biolink:Disease mondo UMLS:C0259800|ICD10:H44.0|ICD10:H44.00|SCTID:41720003|ICD9:360.0|ICD9:360.00|DOID:9724|COHD:432621 UMLS:C0259800|SNOMEDCT:41720003|DOID:9724 http://purl.obolibrary.org/obo/MONDO_0004863 MONDO:0002200 eccrine mixed tumor of skin biolink:Disease mondo SCTID:254720009|NCIT:C4474|EFO:1000385|DOID:2079|UMLS:C0346026 A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures. NCIT:C4474|UMLS:C0346026|SNOMEDCT:254720009|DOID:2079 http://purl.obolibrary.org/obo/MONDO_0002200 benign mixed tumor of the skin (chondroid syringoma)|eccrine mixed tumor|chondroid syringoma|eccrine sweat gland mixed neoplasm|mixed eccrine neoplasm of the skin|mixed tumor of the skin (chondroid syringoma)|benign mixed tumor of skin|benign mixed tumor of the skin|eccrine mixed tumor (morphologic abnormality)|benign mixed tumor of skin (chondroid syringoma) UBERON:0035074 duct of apocrine sweat gland biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035074 ductal part of apocrine sweat gland MONDO:0004862 vitreous abscess biolink:Disease mondo UMLS:C0042904|ICD9:360.04|SCTID:48142003|DOID:9723 DOID:9723|SNOMEDCT:48142003|UMLS:C0042904 http://purl.obolibrary.org/obo/MONDO_0004862 MONDO:0002201 vulvar trichoepithelioma biolink:Disease mondo UMLS:C1520100|NCIT:C40314|DOID:2080 A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin. UMLS:C1520100|NCIT:C40314|DOID:2080 http://purl.obolibrary.org/obo/MONDO_0002201 trichoblastoma of mammalian vulva|vulvar trichoblastoma|vulvar trichoepithelioma|mammalian vulva trichoblastoma UBERON:0035073 duct of eccrine sweat gland biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035073 ductal part of eccrine sweat gland MONDO:0002202 outlet dysfunction constipation biolink:Disease mondo DOID:2088|ICD9:564.02|ICD10:K59.02 DOID:2088 http://purl.obolibrary.org/obo/MONDO_0002202 MONDO:0004865 blue drum syndrome biolink:Disease mondo SCTID:52353000|COHD:374049|ICD9:381.02|DOID:9736|UMLS:C0395863 A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. UMLS:C0395863|DOID:9736|SNOMEDCT:52353000 http://purl.obolibrary.org/obo/MONDO_0004865 acute non-suppurative otitis media - mucoid|blue drum syndrome|acute mucoid otitis media MONDO:0002203 constipation disorder biolink:Disease mondo DOID:2089|ICD10:K59.0|ICD9:564.0|COHD:75860|ICD9:564.00|MESH:D003248|NCIT:C37930|SCTID:14760008|ICD10:K59.00|HP:0002019 Irregular and infrequent or difficult evacuation of the bowels. DOID:2089|MESH:D003248|NCIT:C37930|SNOMEDCT:14760008 http://purl.obolibrary.org/obo/MONDO_0002203 constipation|colonic inertia|Dyschezia MONDO:0004864 acute allergic mucoid otitis media biolink:Disease mondo SCTID:8326008|ICD9:381.05|UMLS:C0155419|DOID:9735 A blue drum syndrome caused by an allergen. UMLS:C0155419|DOID:9735|SNOMEDCT:8326008 http://purl.obolibrary.org/obo/MONDO_0004864 NCBITaxon:10128 Apodemus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10128 UBERON:0035075 thymus subunit biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035075 lobe or lobule of thymus UBERON:0035078 parotid gland interlobular duct biolink:AnatomicalEntity mondo Any of the excretory ducts of the parotid gland which are found in the connective tissue septa i.e. between lobules http://purl.obolibrary.org/obo/UBERON_0035078 MONDO:0004861 ophthalmia nodosa biolink:Disease mondo UMLS:C0154775|ICD10:H16.24|ICD9:360.14|SCTID:12371008|DOID:9722 UMLS:C0154775|SNOMEDCT:12371008|DOID:9722 http://purl.obolibrary.org/obo/MONDO_0004861 MONDO:0041850 pneumonia caused by gram negative bacteria biolink:Disease mondo SCTID:430395005|UMLS:C0854248 SNOMEDCT:430395005|UMLS:C0854248 http://purl.obolibrary.org/obo/MONDO_0041850 pneumonia due to gram negative bacteria|pneumonia caused by gram negative bacteria|pneumonia due to gram-negative bacteria|pneumonia caused by gram-negative bacteria|gram negative pneumonia MONDO:0004860 vitreous disease biolink:Disease mondo DOID:9720|ICD9:379.24|ICD10:H43.39|ICD10:H43.3 A disease involving the vitreous humor. DOID:9720 http://purl.obolibrary.org/obo/MONDO_0004860 vitreous humor disease or disorder|disorder of vitreous humor|disease of vitreous humor|disorder of vitreous humor|disease or disorder of vitreous humor|vitreous humor disease MONDO:0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome biolink:Disease mondo Orphanet:2601|UMLS:CN230273|ICD10:G71.8 UMLS:CN230273|ORPHA:2601 http://purl.obolibrary.org/obo/MONDO_0016827 ordo_malformation_syndrome MONDO:0016828 autosomal recessive sideroblastic anemia biolink:Disease mondo ICD10:D64.0|Orphanet:260305|UMLS:C4274077|SCTID:717050005 Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. SNOMEDCT:717050005|UMLS:C4274077|ORPHA:260305 http://purl.obolibrary.org/obo/MONDO_0016828 congenital sideroblastic anemia|ARSA|sideroblastic anemia, autosomal recessive ordo_disease MONDO:0016829 familial visceral myopathy biolink:Disease mondo SCTID:63684002|GARD:0003443|UMLS:CN202146|ICD9:359.89|UMLS:C0266833|ICD10:K56.0|UMLS:C1835084|Orphanet:2604 Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. ORPHA:2604|UMLS:C0266833|SNOMEDCT:63684002|UMLS:C1835084|UMLS:CN202146 http://purl.obolibrary.org/obo/MONDO_0016829 hereditary hollow visceral myopathy|familial hollow visceral myopathy|Megaduodenum and/or megacystis|pseudoobstruction idiopathic intestinal|visceral myopathy familial ordo_disease MONDO:0016834 16p11.2p12.2 microduplication syndrome biolink:Disease mondo UMLS:CN202168|ICD10:Q92.3|SCTID:733518000|Orphanet:261204|UMLS:C4518821 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. ORPHA:261204|UMLS:CN202168|UMLS:C4518821|SNOMEDCT:733518000 http://purl.obolibrary.org/obo/MONDO_0016834 trisomy 16p11.2p12.2|dup(16)(p11.2p12.2) ordo_malformation_syndrome MONDO:0016835 14q11.2 microduplication syndrome biolink:Disease mondo Orphanet:261229|ICD10:Q92.3|UMLS:CN202171 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. ORPHA:261229|UMLS:CN202171 http://purl.obolibrary.org/obo/MONDO_0016835 trisomy 14q11.2|dup(14)(q11.2) ordo_malformation_syndrome MONDO:0016836 16p13.11 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|SCTID:719577000|UMLS:CN202172|Orphanet:261236|UMLS:C4304596 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. UMLS:C4304596|ORPHA:261236|UMLS:CN202172|SNOMEDCT:719577000 http://purl.obolibrary.org/obo/MONDO_0016836 monosomy 16p13.11|Del(16)(p13.11) ordo_malformation_syndrome HGNC:11278 SPTLC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11278 MONDO:0016837 16p13.11 microduplication syndrome biolink:Disease mondo UMLS:C4304595|ICD10:Q92.3|SCTID:719578005|UMLS:CN202173|GARD:0013392|Orphanet:261243 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. UMLS:C4304595|ORPHA:261243|UMLS:CN202173|SNOMEDCT:719578005 http://purl.obolibrary.org/obo/MONDO_0016837 dup(16)(p13.11)|trisomy 16p13.11 gard_rare|ordo_malformation_syndrome HGNC:11277 SPTLC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11277 MONDO:0016830 Emery-Dreifuss muscular dystrophy biolink:Disease mondo SCTID:111508004|Orphanet:261|ICD10:G71.0|GARD:0006329|OMIMPS:310300|UMLS:C0410189|DOID:11726|MESH:D020389|NCIT:C84685 Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. DOID:11726|SNOMEDCT:111508004|NCIT:C84685|MESH:D020389|UMLS:C0410189|ORPHA:261 http://purl.obolibrary.org/obo/MONDO_0016830 Humeroperoneal neuromuscular disease, (formerly)|scapuloperoneal syndrome, X-linked (formerly)|EDMD ordo_disease MONDO:0016831 linear verrucous nevus syndrome biolink:Disease mondo ICD10:Q82.5|UMLS:CN202159|Orphanet:2611|GARD:0003259 UMLS:CN202159|ORPHA:2611 http://purl.obolibrary.org/obo/MONDO_0016831 linear hamartoma syndrome ordo_disease MONDO:0016832 distal 7q11.23 microduplication syndrome biolink:Disease mondo ICD10:Q92.3|UMLS:CN202160|Orphanet:261102 Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. UMLS:CN202160|ORPHA:261102 http://purl.obolibrary.org/obo/MONDO_0016832 Dup7q11.23D|distal dup(7)(q11.23)|distal trisomy 7q11.23 ordo_malformation_syndrome MONDO:0016833 14q12 microdeletion syndrome biolink:Disease mondo UMLS:C4305240|UMLS:CN202163|ICD10:Q93.5|SCTID:719574007|Orphanet:261144 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. SNOMEDCT:719574007|ORPHA:261144|UMLS:CN202163|UMLS:C4305240 http://purl.obolibrary.org/obo/MONDO_0016833 monosomy 14q12|Del(14)(q12) ordo_malformation_syndrome GO:0061615 glycolytic process through fructose-6-phosphate biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of a monosaccharide into pyruvate, occurring through a fructose-6-phosphate intermediate, with the concomitant production of ATP and NADH. http://purl.obolibrary.org/obo/GO_0061615 glycolysis through fructose-6-phosphate HGNC:11272 SPTA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11272 HGNC:11270 SPRY2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11270 NCBITaxon:36734 Unikaryonidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_36734 HGNC:11276 SPTBN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11276 MONDO:0004859 hydrops of gallbladder biolink:Disease mondo ICD9:575.3|ICD10:K82.1|COHD:195307|SCTID:47312008|DOID:9717|UMLS:C0152445 DOID:9717|UMLS:C0152445|SNOMEDCT:47312008 http://purl.obolibrary.org/obo/MONDO_0004859 HGNC:11274 SPTB biolink:OntologyClass mondo http://identifiers.org/hgnc/11274 HGNC:11273 SPTAN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11273 MONDO:0002259 gonadal disease biolink:Disease mondo NCIT:C26786|MESH:D006058|DOID:2277|UMLS:C0018050 A non-neoplastic or neoplastic disorder that affects the testis or the ovary. MESH:D006058|DOID:2277|UMLS:C0018050|NCIT:C26786 http://purl.obolibrary.org/obo/MONDO_0002259 gonadal disorder|disease of gonad|gonadal disorders|gonad disease or disorder|disorder of gonad|disorder of gonads|gonad disease|disorder of gonad|disease or disorder of gonad GO:1903829 positive regulation of cellular protein localization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/GO_1903829 up regulation of channel localizer activity|upregulation of cellular protein localization|up-regulation of cellular protein localisation|up-regulation of channel localizer activity|up regulation of cellular protein localisation|activation of cellular protein localisation|positive regulation of cellular protein localisation|activation of channel localizer activity|upregulation of channel localizer activity|up-regulation of cellular protein localization|upregulation of cellular protein localisation|up regulation of cellular protein localization|activation of cellular protein localization|positive regulation of channel localizer activity GO:1903828 negative regulation of cellular protein localization biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/GO_1903828 downregulation of cellular protein localisation|inhibition of cellular protein localisation|down-regulation of cellular protein localization|downregulation of channel localizer activity|down regulation of cellular protein localization|down regulation of channel localizer activity|inhibition of cellular protein localization|downregulation of cellular protein localization|negative regulation of channel localizer activity|down-regulation of channel localizer activity|down-regulation of cellular protein localisation|negative regulation of cellular protein localisation|inhibition of channel localizer activity|down regulation of cellular protein localisation GO:1903827 regulation of cellular protein localization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/GO_1903827 regulation of cellular protein localisation|regulation of channel localizer activity MONDO:0002255 hypertrophic elongation of cervix biolink:Disease mondo ICD10:N88.4|UMLS:C0020561|COHD:194088|SCTID:198353000|ICD9:622.6|DOID:2251 DOID:2251|SNOMEDCT:198353000|UMLS:C0020561 http://purl.obolibrary.org/obo/MONDO_0002255 MONDO:0002256 cervix disease biolink:Disease mondo SCTID:63339007|DOID:2253|NCIT:C40241|MESH:D002577|UMLS:C0007867 A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. NCIT:C40241|MESH:D002577|SNOMEDCT:63339007|DOID:2253|UMLS:C0007867 http://purl.obolibrary.org/obo/MONDO_0002256 disease of uterine cervix|disorder of uterine cervix|disease or disorder of uterine cervix|uterine cervix disease|cervical disorder|uterine cervix disease or disorder|disorder of uterine cervix MONDO:0002257 ankylosis (disease) biolink:Disease mondo ICD10:M24.6|ICD9:718.50|SCTID:111227009|DOID:227|HP:0031013|MESH:D000844|ICD9:718.5 Fixation and immobility of a joint. DOID:227|SNOMEDCT:111227009|MESH:D000844 http://purl.obolibrary.org/obo/MONDO_0002257 ankylosis GO:1903825 organic acid transmembrane transport biolink:OntologyClass mondo The process in which an organic acid is transported across a membrane. http://purl.obolibrary.org/obo/GO_1903825 MONDO:0002258 pharyngitis biolink:Disease mondo ICD10:J02.9|ICD9:462|ICD9:472|NCIT:C26851|ICD9:478.20|SCTID:405737000|UMLS:C0031350|DOID:2275|MESH:D010612|ICD10:J02 Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. UMLS:C0031350|SNOMEDCT:405737000|DOID:2275|MESH:D010612|NCIT:C26851 http://purl.obolibrary.org/obo/MONDO_0002258 acute pharyngitis|chronic pharyngitis|pharyngitis - acute|persistent sore throat|Sore throat|chronic sore throat|chronic pharyngitis and nasopharyngitis|pharyngeal disorder|inflamed throat|acute sore throat|chronic pharyn/nasopharyngitis|Sore throat - chronic|inflammation of throat|throat inflammation|pharyngeal disease HGNC:23228 CPAMD8 biolink:OntologyClass mondo http://identifiers.org/hgnc/23228 MONDO:0002251 hepatitis biolink:Disease mondo ICD9:570|SCTID:197268000|DOID:2237|ICD9:571.41|ICD9:571.40|NCIT:C3095|ICD10:K73.9|EFO:0008496|MESH:D006505|ICD9:571.4 An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders. DOID:2237|MESH:D006505|NCIT:C3095|SNOMEDCT:197268000 http://purl.obolibrary.org/obo/MONDO_0002251 chronic hepatitis|acute/subac. necrosis of liver|acute hepatitis|inflammation of liver|Hepatitides|chronic persistent hepatitis|Hepatitis|hepatitis|liver inflammation|animal hepatitis|acute and subacute liver necrosis MONDO:0002252 granulomatous hepatitis biolink:Disease mondo NCIT:C27015|UMLS:C0235369|SCTID:86514004|DOID:2239 Hepatitis that is characterized by the presence of granulomas. UMLS:C0235369|NCIT:C27015|DOID:2239|SNOMEDCT:86514004 http://purl.obolibrary.org/obo/MONDO_0002252 MONDO:0002253 spondylosis biolink:Disease mondo ICD9:721.9|MESH:D055009|DOID:2247|ICD10:M47|ICD9:721.3|COHD:4227449|UMLS:C0038019|SCTID:48210000|ICD10:M47.9 A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue. SNOMEDCT:48210000|MESH:D055009|UMLS:C0038019|DOID:2247 http://purl.obolibrary.org/obo/MONDO_0002253 spondylogenic compression of thoracic spinal cord|spondylogenic compression of lumbar spinal cord|lumbosacral spondylosis without myelopathy|spondylosis with myelopathy|thoracic or lumbar spondylosis with myelopathy|lumbar spondylosis with myelopathy GO:0046005 positive regulation of circadian sleep/wake cycle, REM sleep biolink:OntologyClass mondo Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep. http://purl.obolibrary.org/obo/GO_0046005 up-regulation of circadian sleep/wake cycle, REM sleep|up regulation of circadian sleep/wake cycle, REM sleep|activation of circadian sleep/wake cycle, REM sleep|stimulation of circadian sleep/wake cycle, REM sleep|upregulation of circadian sleep/wake cycle, REM sleep|positive regulation of REM sleep MONDO:0002254 syndromic disease biolink:Disease mondo OGMS:0000086|UMLS:C0039082|DOID:225|NCIT:C28193|MESH:D013577 A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. DOID:225|MESH:D013577|NCIT:C28193|UMLS:C0039082 http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease or disorder|clusters, symptom|cluster, symptom|syndrome associated with disease or disorder|symptom cluster|syndromes|symptom clusters|syndrome associated with disease or disorder|syndromic disease|syndrome GO:0048667 cell morphogenesis involved in neuron differentiation biolink:OntologyClass mondo The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. http://purl.obolibrary.org/obo/GO_0048667 neuron morphogenesis involved in differentiation GO:0048666 neuron development biolink:OntologyClass mondo The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/GO_0048666 UBERON:0035005 preputial swelling of male biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035005 prepuce of male UBERON:0035004 preputial swelling biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035004 MONDO:0002250 basilar artery insufficiency biolink:Disease mondo UMLS:C0004812|COHD:374055|SCTID:64009001|DOID:223|NCIT:C34413|ICD9:435.0 A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function. SNOMEDCT:64009001|DOID:223|NCIT:C34413|UMLS:C0004812 http://purl.obolibrary.org/obo/MONDO_0002250 basilar artery syndrome UBERON:0035006 preputial swelling of female biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035006 prepuce of female MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome biolink:Disease mondo ICD10:Q87.8|OMIM:615553|Orphanet:370943|UMLS:C3809910 (1p21). ORPHA:370943|UMLS:C3809910|http://identifiers.org/omim/615553 http://purl.obolibrary.org/obo/MONDO_0014248 arthrogryposis, mental retardation, and seizures|AMRS|arthrogryposis, intellectual disability, and seizures; AMRS|SLC35A3-CDG|arthrogryposis, mental retardation, and seizures; AMRS|arthrogryposis, intellectual disability, and seizures ordo_disease HGNC:11247 SPINT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11247 MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement biolink:Disease mondo OMIM:615552|Orphanet:391392|ICD10:M79.6|UMLS:C3809899|NCIT:C125390 A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age. ORPHA:391392|NCIT:C125390|UMLS:C3809899|http://identifiers.org/omim/615552 http://purl.obolibrary.org/obo/MONDO_0014247 episodic pain syndrome, familial, 3|FEPS3|episodic pain syndrome, familial, 3; FEPS3|episodic pain syndrome, familial, type 3 ordo_clinical_subtype GO:0034097 response to cytokine biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/GO_0034097 response to cytokine stimulus MONDO:0014246 episodic pain syndrome, familial, 2 biolink:Disease mondo UMLS:C3809893|OMIM:615551 Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene. UMLS:C3809893|http://identifiers.org/omim/615551 http://purl.obolibrary.org/obo/MONDO_0014246 FEPS2|SCN10A familial episodic pain syndrome|episodic pain syndrome, familial, 2; FEPS2|familial episodic pain syndrome caused by mutation in SCN10A|episodic pain syndrome, familial, 2|episodic pain syndrome, familial, type 2 MONDO:0014245 Diamond-Blackfan anemia 12 biolink:Disease mondo UMLS:C3809888|OMIM:615550 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene. UMLS:C3809888|http://identifiers.org/omim/615550 http://purl.obolibrary.org/obo/MONDO_0014245 DBA12|Diamond-Blackfan Anemia type 12|Diamond-Blackfan anemia 12|RPL15 Diamond-Blackfan anemia|Diamond-Blackfan anemia 12; DBA12|Diamond-Blackfan anemia caused by mutation in RPL15 HGNC:11244 SPINK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11244 MONDO:0014249 multiple fibroadenoma of the breast biolink:Disease mondo ICD10:D24|Orphanet:50920|OMIM:615554|UMLS:C3809918 Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. ORPHA:50920|UMLS:C3809918|http://identifiers.org/omim/615554 http://purl.obolibrary.org/obo/MONDO_0014249 multiple fibroadenomas of the breast|MFAB|mammary polyadenomatosis|multiple fibroadenomas of the breast; MFAB ordo_disease MONDO:0014240 periventricular nodular heterotopia 6 biolink:Disease mondo UMLS:C3809872|OMIM:615544 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene. UMLS:C3809872|http://identifiers.org/omim/615544 http://purl.obolibrary.org/obo/MONDO_0014240 periventricular nodular heterotopia type 6|ERMARD periventricular nodular heterotopia|periventricular nodular heterotopia 6|periventricular nodular heterotopia caused by mutation in ERMARD|PVNH6|periventricular nodular heterotopia 6; PVNH6 MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 biolink:Disease mondo DOID:0070149|GARD:12723|NCIT:C125388|GARD:0012732|ICD10:G60.8|OMIM:615548|Orphanet:391397|UMLS:C3809882 Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.' ORPHA:391397|UMLS:C3809882|NCIT:C125388|DOID:0070149|http://identifiers.org/omim/615548 http://purl.obolibrary.org/obo/MONDO_0014244 insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis|CIP with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction|HSAN with hyperhidrosis and gastrointestinal dysfunction|SCN11A autosomal dominant hereditary sensory and autonomic neuropathy|neuropathy, hereditary sensory and autonomic, type VII|neuropathy, hereditary sensory and autonomic, type 7|hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|neuropathy, hereditary sensory and autonomic, type VII; HSAN7|HSAN VII|hereditary sensory and autonomic neuropathy type VII|HSAN7|HSAN 7|autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A ordo_disease|gard_rare MONDO:0014243 Prader-Willi syndrome due to point mutation biolink:Disease mondo UMLS:C3809877|GARD:0013316|Orphanet:398069|ICD10:Q87.1|OMIM:615547 ORPHA:398069|UMLS:C3809877|http://identifiers.org/omim/615547 http://purl.obolibrary.org/obo/MONDO_0014243 Schaaf-YANG syndrome|Prader-Willi-like syndrome|Schaaf-Yang syndrome|Prader-Willi syndrome due to a point mutation|Schaaf-YANG syndrome; SHFYNG|PWS due to point mutation|PWS due to a point mutation|SHFYNG ordo_etiological_subtype MONDO:0014242 van Maldergem syndrome 2 biolink:Disease mondo UMLS:C3809875|OMIM:615546 Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene. UMLS:C3809875|http://identifiers.org/omim/615546 http://purl.obolibrary.org/obo/MONDO_0014242 van Maldergem syndrome 2|van Maldergem syndrome caused by mutation in FAT4|FAT4 van Maldergem syndrome|VAN Maldergem syndrome 2; VMLDS2|VMLDS2|Van Maldergem syndrome type 2 MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 biolink:Disease mondo UMLS:C3809874|OMIM:615545 Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene. UMLS:C3809874|http://identifiers.org/omim/615545 http://purl.obolibrary.org/obo/MONDO_0014241 leukemia, acute lymphoblastic, susceptibility to, type 3|leukemia, acute lymphoblastic, susceptibility to, 3; ALL3|susceptibility to acute lymphoblastic leukemia 3|precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5|ALL3|leukemia, acute lymphoblastic, susceptibility to, 3|PAX5 precursor B-cell acute lymphoblastic leukemia predisposition HGNC:25897 MFSD2A biolink:OntologyClass mondo http://identifiers.org/hgnc/25897 HGNC:25896 ORAI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25896 MONDO:0002266 malt worker's lung biolink:Disease mondo DOID:2314|UMLS:C0155888|SCTID:25897000|ICD10:J67.4|ICD9:495.4 An extrinsic allergic alveolitis caused by infection with Aspergillus. SNOMEDCT:25897000|DOID:2314|UMLS:C0155888 http://purl.obolibrary.org/obo/MONDO_0002266 Aspergillus caused extrinsic allergic alveolitis|Aspergillus extrinsic allergic alveolitis|malt worker lung|Malt-workers' lung|Malt workers' lung|alveolitis due to aspergillus clavatus MONDO:0002267 obstructive lung disease biolink:Disease mondo DOID:2320|UMLS:C0600260|MESH:D008173 Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent. MESH:D008173|DOID:2320|UMLS:C0600260 http://purl.obolibrary.org/obo/MONDO_0002267 respiratory airway obstruction MONDO:0002268 dyspepsia biolink:Disease mondo ICD10:R10.13|DOID:2321|COHD:439418|EFO:0008533|MESH:D004415|NCIT:C26756|ICD10:K30 An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease. DOID:2321|NCIT:C26756|MESH:D004415 http://purl.obolibrary.org/obo/MONDO_0002268 indigestion|dyspepsia, indigestion NOS|dyspepsia, indigestion MONDO:0002269 gastroenteritis biolink:Disease mondo DOID:2326|ICD9:558.9|EFO:1001463|MESH:D005759|NCIT:C34632|ICD10:K52.9|UMLS:C0017160|COHD:198062|SCTID:25374005 An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. SNOMEDCT:25374005|NCIT:C34632|DOID:2326|UMLS:C0017160|MESH:D005759 http://purl.obolibrary.org/obo/MONDO_0002269 intestine inflammation|inflammation of intestine|cholera morbus|infectious colitis, enteritis and gastroenteritis MONDO:0002262 capillary lymphangioma biolink:Disease mondo DOID:2286|SCTID:445492005 A lymphangioma that involves the capillary. DOID:2286|SNOMEDCT:445492005 http://purl.obolibrary.org/obo/MONDO_0002262 cutaneous lymphangioma|capillary lymphangioma MONDO:0002263 female reproductive system disease biolink:Disease mondo SCTID:310789003|DOID:229|NCIT:C27020|ICD9:629.9|MESH:D005831 A disease involving the female reproductive system. DOID:229|NCIT:C27020|MESH:D005831|SNOMEDCT:310789003 http://purl.obolibrary.org/obo/MONDO_0002263 disease of female reproductive system|disease or disorder of female reproductive system|disorder of female reproductive system|gynecological disease|disorder of female genital tract|female reproductive disease|female reproductive system disease or disorder|disorder of female reproductive system|female reproductive system disease|disorder of female genital system|female reproductive system disorder|disease of female genital system MONDO:0002264 obsolete atrophy of prostate biolink:Disease mondo DOID:2301|SCTID:29524003|COHD:200147|ICD9:602.2|ICD10:N42.2|UMLS:C0156296 UMLS:C0156296|SNOMEDCT:29524003|DOID:2301 http://purl.obolibrary.org/obo/MONDO_0002264 prostate atrophy|atrophy of prostate|atrophic prostate UBERON:0035014 functional part of brain biolink:AnatomicalEntity mondo A brain region defined by functional criteria, e.g. auditory cortex, rather than by structural or histological criteria. http://purl.obolibrary.org/obo/UBERON_0035014 MONDO:0002265 stereotypic movement disorder biolink:Disease mondo COHD:4207660|ICD9:307.3|DOID:2303|SCTID:5507002|MESH:D019956|ICD10:F98.4 Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994) DOID:2303|MESH:D019956|SNOMEDCT:5507002 http://purl.obolibrary.org/obo/MONDO_0002265 stereotypy habit disorder|stereotyped repetitive movements|stereotyped repetitive movements NOS (finding) MONDO:0002260 hidradenitis biolink:Disease mondo COHD:434119|ICD9:705.83|UMLS:C0085160|MESH:D016575|DOID:2282|NCIT:C32132|SCTID:69741000 An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland. SNOMEDCT:69741000|NCIT:C32132|DOID:2282|NCIT:C112190|MESH:D016575|UMLS:C0085160 http://purl.obolibrary.org/obo/MONDO_0002260 inflammation of apocrine sweat gland|apocrine sweat gland inflammation|Hydradenitis|apocrine sweat gland HGNC:23230 UBA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/23230 MONDO:0002261 keratopathy biolink:Disease mondo UMLS:C0235270|NCIT:C27012|DOID:2283 Any disorder of the cornea. UMLS:C0235270|NCIT:C27012|DOID:2283 http://purl.obolibrary.org/obo/MONDO_0002261 MONDO:0014237 autosomal recessive nonsyndromic deafness 76 biolink:Disease mondo ICD10:H90.3|DOID:0110524|OMIM:615540|UMLS:C3147083 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene. http://identifiers.org/omim/615540|UMLS:C3147083|DOID:0110524 http://purl.obolibrary.org/obo/MONDO_0014237 autosomal recessive nonsyndromic deafness type 76|DFNB76|autosomal recessive deafness 76|SYNE4 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 76|autosomal recessive nonsyndromic deafness caused by mutation in SYNE4|deafness, autosomal recessive 76|deafness, autosomal recessive 76; DFNB76 clingen MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 biolink:Disease mondo OMIM:615539|UMLS:C3809845 Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. UMLS:C3809845|http://identifiers.org/omim/615539 http://purl.obolibrary.org/obo/MONDO_0014236 Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE|EDSMC2|DSE Ehlers-Danlos syndrome, musculocontractural type|Ehlers-Danlos syndrome, musculocontractural type, 2|Ehlers-Danlos syndrome, musculocontractural type 2|Ehlers-Danlos syndrome, musculocontractural type, 2; EDSMC2|Ehlers-Danlos syndrome, musculocontractural type 2; EDSMC2 HGNC:11257 SPR biolink:OntologyClass mondo http://identifiers.org/hgnc/11257 MONDO:0014235 chromosome 22q13 duplication syndrome biolink:Disease mondo DOID:0060437|UMLS:C3809844|OMIM:615538 DOID:0060437|UMLS:C3809844|http://identifiers.org/omim/615538 http://purl.obolibrary.org/obo/MONDO_0014235 chromosome 22q13 duplication syndrome MONDO:0014234 reticulate acropigmentation of Kitamura biolink:Disease mondo SCTID:239133004|DOID:0060258|Orphanet:178307|ICD9:709.09|ICD10:L81.8|OMIM:615537 A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. ORPHA:178307|UMLS:C0406811|SNOMEDCT:239133004|DOID:0060258|http://identifiers.org/omim/615537 http://purl.obolibrary.org/obo/MONDO_0014234 RAPK|RAK|Kitamura reticulate acropigmentation|reticulate acropigmentation of Kitamura; RAK|reticulate pigmentation of Kitamura|acropigmentatio reticularis|reticulate acropigmentation of Kitamura ordo_disease MONDO:0016896 partial deletion of the short arm of chromosome 18 biolink:Disease mondo ICD10:Q93.5|Orphanet:261974 ORPHA:261974 http://purl.obolibrary.org/obo/MONDO_0016896 partial deletion of chromosome 18p|partial deletion of the short arm of chromosome type 18|partial monosomy of chromosome 18p|partial monosomy of the short arm of chromosome 18 ordo_group_of_disorders MONDO:0016897 partial deletion of the short arm of chromosome 19 biolink:Disease mondo Orphanet:261983|ICD10:Q93.5 ORPHA:261983 http://purl.obolibrary.org/obo/MONDO_0016897 partial deletion of chromosome 19p|partial deletion of the short arm of chromosome type 19|partial monosomy of chromosome 19p|partial monosomy of the short arm of chromosome 19 ordo_group_of_disorders MONDO:0016898 partial monosomy of the short arm of chromosome 20 biolink:Disease mondo MESH:C535370|Orphanet:261992|ICD10:Q93.5|UMLS:CN036364|GARD:0003739 ORPHA:261992|MESH:C535370|UMLS:CN036364 http://purl.obolibrary.org/obo/MONDO_0016898 chromosome 20p deletion|monosomy 20p|partial deletion of the short arm of chromosome 20|partial monosomy 20p|20p deletion|Pure partial 20p deletion|20p monosomy|partial deletion of chromosome 20p|partial monosomy of the short arm of chromosome type 20|deletion 20p|partial monosomy of chromosome 20p gard_rare|ordo_group_of_disorders MONDO:0014239 testicular anomalies with or without congenital heart disease biolink:Disease mondo OMIM:615542|UMLS:C3809858 http://identifiers.org/omim/615542|UMLS:C3809858 http://purl.obolibrary.org/obo/MONDO_0014239 testicular anomalies with or without congenital heart disease|TACHD|testicular anomalies with or without congenital heart disease; TACHD MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome biolink:Disease mondo UMLS:C3809853|OMIM:615541|ICD10:Q87.8|Orphanet:391307 http://identifiers.org/omim/615541|ORPHA:391307|UMLS:C3809853 http://purl.obolibrary.org/obo/MONDO_0014238 intellectual disability, autosomal recessive 39; MRT39|MRT39|mental retardation, autosomal recessive 39; MRT39|intellectual disability, autosomal recessive type 39|intellectual disability, autosomal recessive 39|mental retardation, autosomal recessive 39|mental retardation, autosomal recessive type 39 ordo_malformation_syndrome MONDO:0016899 Duchenne and Becker muscular dystrophy biolink:Disease mondo Orphanet:262|ICD10:G71.0|UMLS:CN227033 Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. UMLS:CN227033|ORPHA:262 http://purl.obolibrary.org/obo/MONDO_0016899 severe dystrophinopathy, Duchenne and Becker type ordo_group_of_disorders MONDO:0016892 partial deletion of the short arm of chromosome 10 biolink:Disease mondo UMLS:C0795836|Orphanet:261938|ICD10:Q93.5 ORPHA:261938|UMLS:C0795836 http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of chromosome 10p|partial deletion of the short arm of chromosome type 10|partial monosomy of chromosome 10p|partial monosomy of the short arm of chromosome 10 ordo_group_of_disorders MONDO:0016893 partial deletion of the short arm of chromosome 11 biolink:Disease mondo Orphanet:261947|ICD10:Q93.5 ORPHA:261947 http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome type 11|partial deletion of chromosome 11p|partial monosomy of chromosome 11p|partial monosomy of the short arm of chromosome 11 ordo_group_of_disorders MONDO:0016894 partial deletion of the short arm of chromosome 16 biolink:Disease mondo Orphanet:261956|ICD10:Q93.5 ORPHA:261956 http://purl.obolibrary.org/obo/MONDO_0016894 partial monosomy of the short arm of chromosome 16|partial deletion of chromosome 16p|partial monosomy of chromosome 16p|partial deletion of the short arm of chromosome type 16 ordo_group_of_disorders MONDO:0016895 partial monosomy of the short arm of chromosome 17 biolink:Disease mondo ICD10:Q93.5|Orphanet:261965 ORPHA:261965 http://purl.obolibrary.org/obo/MONDO_0016895 partial deletion of chromosome 17p|partial monosomy of the short arm of chromosome type 17|partial monosomy of chromosome 17p|partial deletion of the short arm of chromosome 17 ordo_group_of_disorders NCBITaxon:241806 Polypodiopsida organism taxon mondo PMID:21652310|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_241806 Filicopsida|ferns|Moniliformopses MONDO:0014233 early-onset Parkinson disease 20 biolink:Disease mondo DOID:0060898|OMIM:615530|UMLS:C3809824 Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene. UMLS:C3809824|DOID:0060898|http://identifiers.org/omim/615530 http://purl.obolibrary.org/obo/MONDO_0014233 early-onset Parkinson disease type 20|Parkinson disease 20, early-onset; PARK20|early-onset Parkinson's disease 20|Parkinson disease 20, early-onset|SYNJ1 Parkinson disease|PARK20|Parkinson disease caused by mutation in SYNJ1 MONDO:0014232 craniosynostosis 5, susceptibility to biolink:Disease mondo OMIM:615529 Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene. http://identifiers.org/omim/615529 http://purl.obolibrary.org/obo/MONDO_0014232 craniosynostosis 5, susceptibility to|susceptibility to craniosynostosis 5|ALX4 craniosynostosis|CRS5|craniosynostosis 5, susceptibility to; CRS5|craniosynostosis caused by mutation in ALX4 predisposition MONDO:0014231 juvenile onset Parkinson disease 19A biolink:Disease mondo ICD10:G20|UMLS:C3809811|DOID:0060891|OMIM:615528 Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene. UMLS:C3809811|DOID:0060891|http://identifiers.org/omim/615528 http://purl.obolibrary.org/obo/MONDO_0014231 Parkinson disease 19A, juvenile-onset|juvenile onset Parkinson disease type 19A|DNAJC6 Parkinson disease|juvenile onset Parkinson's disease 19A|Parkinson disease 19B, early-onset|Parkinson disease 19, juvenile-onset|Parkinson disease caused by mutation in DNAJC6|Parkinson disease 19A, juvenile-onset; PARK19A|PARK19A|PARK19|Parkinson disease 19, juvenile-onset; PARK19|Park19, formerly MONDO:0016890 partial deletion of the short arm of chromosome 8 biolink:Disease mondo GARD:0003768|ICD10:Q93.5|Orphanet:261920|MESH:C537826 Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. MESH:C537826|UMLS:C2931635|ORPHA:261920 http://purl.obolibrary.org/obo/MONDO_0016890 partial monosomy of chromosome 8p|monosomy 8p|deletion 8p|partial deletion of chromosome 8p|8p deletion|8p monosomy|partial deletion of the short arm of chromosome type 8|partial monosomy of the short arm of chromosome 8|partial monosomy 8p|chromosome 8p deletion ordo_group_of_disorders|gard_rare MONDO:0014230 candidiasis, familial, 8 biolink:Disease mondo OMIM:615527|UMLS:C3714992 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. UMLS:C3714992|http://identifiers.org/omim/615527 http://purl.obolibrary.org/obo/MONDO_0014230 TRAF3IP2 chronic mucocutaneous candidiasis (disease)|CANDF8|candidiasis, familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, 8|chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2|candidiasis, familial, type 8|candidiasis, familial, 8; CANDF8 MONDO:0016891 partial deletion of the short arm of chromosome 9 biolink:Disease mondo Orphanet:261929|ICD10:Q93.5 ORPHA:261929|UMLS:C2931695 http://purl.obolibrary.org/obo/MONDO_0016891 partial deletion of the short arm of chromosome type 9|partial monosomy of the short arm of chromosome 9|partial monosomy of chromosome 9p|partial deletion of chromosome 9p ordo_group_of_disorders MONDO:0002237 carbuncle biolink:Disease mondo ICD9:680.8|EFO:1000674|ICD9:680.9|SCTID:416893007|UMLS:C0007078|DOID:2176|MESH:D002270 An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration. MESH:D002270|UMLS:C0007078|SNOMEDCT:416893007|DOID:2176 http://purl.obolibrary.org/obo/MONDO_0002237 carbuncle and furuncle of upper arm and forearm|carbuncle and furuncle of face|carbuncle and furuncle of trunk|carbuncle and furuncle of leg except foot|carbuncle and furuncle of gluteal region|carbuncle and furuncle of any part of face except eye|carbuncle and furuncle of buttock|carbuncle and furuncle of hand|carbuncle and furuncle of neck|carbuncle and furuncle of foot UBERON:0011092 right pelvic girdle region biolink:AnatomicalEntity mondo A pelvic girdle region that is in the right side of a multicellular organism. http://purl.obolibrary.org/obo/UBERON_0011092 right pelvic girdle MONDO:0002238 ascending colon cancer biolink:Disease mondo ICD10:C18.2|UMLS:C0153439|DOID:218|SCTID:363412000|ICD9:153.6 A malignant neoplasm involving the ascending colon. UMLS:C0153439|SNOMEDCT:363412000|DOID:218 http://purl.obolibrary.org/obo/MONDO_0002238 malignant neoplasm of right colon|malignant ascending colon neoplasm|cancer of ascending colon|Ca ascending colon|malignant neoplasm of ascending colon|ascending colon cancer|malignant tumor of ascending colon MONDO:0004899 monofixation syndrome biolink:Disease mondo ICD10:H50.42|UMLS:C0339611|DOID:9843|ICD9:378.34|SCTID:14785004 DOID:9843|UMLS:C0339611|SNOMEDCT:14785004 http://purl.obolibrary.org/obo/MONDO_0004899 microtropia|microstrabismus UBERON:0011091 skeleton of left pelvic girdle biolink:AnatomicalEntity mondo A skeleton of pelvic girdle that is part of a left pelvic girdle region. http://purl.obolibrary.org/obo/UBERON_0011091 HGNC:23204 KIRREL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/23204 MONDO:0002239 post-surgical hypoinsulinemia biolink:Disease mondo UMLS:C0154190|DOID:2181|ICD9:251.3|COHD:192591|ICD10:E89.1|SCTID:190437000 DOID:2181|SNOMEDCT:190437000|UMLS:C0154190 http://purl.obolibrary.org/obo/MONDO_0002239 postsurgical hypoinsulinemia UBERON:0011090 skeleton of right pelvic girdle biolink:AnatomicalEntity mondo A skeleton of pelvic girdle that is part of a right pelvic girdle region. http://purl.obolibrary.org/obo/UBERON_0011090 MONDO:0002233 enamel caries biolink:Disease mondo SCTID:80353004|COHD:441049|DOID:217|UMLS:C0266853|ICD9:521.01 A dental caries that involves the enamel. SNOMEDCT:80353004|DOID:217|UMLS:C0266853 http://purl.obolibrary.org/obo/MONDO_0002233 dental caries of enamel|simple dental cavity|primary dental caries|dental caries limited to enamel|enamel dental caries MONDO:0004896 esotropia biolink:Disease mondo ICD10:H50.0|UMLS:C0014877|COHD:377877|NCIT:C34596|ICD10:H50.00|SCTID:16596007|ICD9:378.0|ICD9:378.00|MESH:D004948|DOID:9840|GARD:0008235 A form of strabismus in which one or both eyes are deviated medially. DOID:9840|SNOMEDCT:16596007|MESH:D004948|UMLS:C0014877|NCIT:C34596 http://purl.obolibrary.org/obo/MONDO_0004896 internal strabismus|crossed eyes|convergence in manifest squint gard_rare UBERON:0011096 lacrimal nerve biolink:AnatomicalEntity mondo The lacrimal nerve is the smallest of the three branches of the ophthalmic division of the trigeminal nerve. http://purl.obolibrary.org/obo/UBERON_0011096 nervus lacrimalis MONDO:0004895 accommodative esotropia biolink:Disease mondo COHD:381027|ICD10:H50.43|DOID:9839|ICD9:378.35|UMLS:C0155336|SCTID:419494007 SNOMEDCT:419494007|UMLS:C0155336|DOID:9839 http://purl.obolibrary.org/obo/MONDO_0004895 MONDO:0002234 vaginitis (disease) biolink:Disease mondo SCTID:30800001|DOID:2170|MESH:D014627|UMLS:C0042267|ICD9:616.10|EFO:0005757|NCIT:C26911|HP:0030683|ICD9:616.1 A non-infectious or infectious inflammatory process affecting the vagina. NCIT:C26911|MESH:D014627|UMLS:C0042267|SNOMEDCT:30800001|DOID:2170 http://purl.obolibrary.org/obo/MONDO_0002234 inflammation of vagina|vaginitis|vagina inflammation|vaginal inflammation|vaginal Inflammation UBERON:0011095 vertebra pre-cartilage condensation biolink:AnatomicalEntity mondo The pre-cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0011095 vertebral pre-cartilage condensation MONDO:0004898 total circumpapillary dystrophy of choroid biolink:Disease mondo UMLS:C0154896|SCTID:59753003|ICD9:363.52|DOID:9842 UMLS:C0154896|DOID:9842|SNOMEDCT:59753003 http://purl.obolibrary.org/obo/MONDO_0004898 circumpapillary dystrophy of choroid, total MONDO:0002235 eyelid neoplasm biolink:Disease mondo NCIT:C3031|Orphanet:98580|UMLS:C0015424|SCTID:278697001|EFO:1000934|MESH:D005142|DOID:2173 A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma. SNOMEDCT:278697001|NCIT:C3031|UMLS:C0015424|ORPHA:98580|DOID:2173|MESH:D005142 http://purl.obolibrary.org/obo/MONDO_0002235 tumor of eyelid|neoplasm of the eyelid|tumor of the eyelid|palpebral tumor|eyelid neoplasm|neoplasm of eyelid|eyelid tumor|eyelid neoplasm (disease) ordo_group_of_disorders UBERON:0011094 vertebra cartilage element biolink:AnatomicalEntity mondo The cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0011094 vertebral cartilage condensation MONDO:0002236 ocular cancer biolink:Disease mondo ICD9:190.8|NCIT:C4767|MESH:D005134|ICD9:239.89|SCTID:371486001|DOID:2174 A benign or malignant neoplasm affecting the structures of the eye. SNOMEDCT:371486001|NCIT:C4767|DOID:2174|MESH:D005134 http://purl.obolibrary.org/obo/MONDO_0002236 ocular tumor|neoplasm of eye|malignant neoplasm of eye|eyeball of camera-type eye cancer|malignant neoplasm of the eye|malignant eyeball of camera-type eye neoplasm|malignant eye cancer, NOS|malignant eye tumor|malignant neoplasm of eyeball of camera-type eye|eye neoplasm|malignant ocular tumor|malignant tumor of the eye|cancer of eye|malignant tumor of eye|malignant ocular neoplasm|cancer of the eye|malignant eye neoplasm|cancer of eyeball of camera-type eye|neoplasm of eye proper|eye cancer|eye neoplasm, malignant MONDO:0004897 hypotropia biolink:Disease mondo SCTID:29491004|NCIT:C42086|COHD:379029|UMLS:C0152208|DOID:9841|ICD9:378.32 Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye. DOID:9841|UMLS:C0152208|SNOMEDCT:29491004|NCIT:C42086 http://purl.obolibrary.org/obo/MONDO_0004897 hypotropia|sunset sign|downward ocular deviation UBERON:0011093 left pelvic girdle region biolink:AnatomicalEntity mondo A pelvic girdle region that is in the left side of a multicellular organism. http://purl.obolibrary.org/obo/UBERON_0011093 left pelvic girdle MONDO:0004892 refractive error biolink:Disease mondo MESH:D012030|DOID:9835|SCTID:39021009|ICD10:H52.7 A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia. SNOMEDCT:39021009|MESH:D012030|NCIT:C87145|DOID:9835 http://purl.obolibrary.org/obo/MONDO_0004892 MONDO:0002230 ovarian Wilms tumor biolink:Disease mondo DOID:2153|NCIT:C40443|UMLS:C1518746 An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass. NCIT:C40443|DOID:2153|UMLS:C1518746 http://purl.obolibrary.org/obo/MONDO_0002230 ovarian Wilms' tumor|ovary Wilms tumor|ovarian Wilms' cancer|ovarian Wilms tumor MONDO:0004891 hyperopia biolink:Disease mondo ICD10:H52.0|UMLS:C0020490|COHD:376415|SCTID:38101003|DOID:9834|ICD9:367.0|MESH:D006956 A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed) MESH:D006956|DOID:9834|UMLS:C0020490|SNOMEDCT:38101003 http://purl.obolibrary.org/obo/MONDO_0004891 hypermetropia|Far-sightedness MONDO:0002231 obsolete malignant ovarian germ cell neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002231 MONDO:0004894 cyclotropia biolink:Disease mondo ICD10:H50.41|ICD9:378.33|DOID:9838|SCTID:70486007|COHD:372647|UMLS:C0152209 SNOMEDCT:70486007|UMLS:C0152209|DOID:9838 http://purl.obolibrary.org/obo/MONDO_0004894 MONDO:0002232 nasal cavity disease biolink:Disease mondo SCTID:232340005|UMLS:C0339820|NCIT:C27102|COHD:439407|DOID:2163 A disease involving the nasal cavity. SNOMEDCT:232340005|UMLS:C0339820|NCIT:C27102|DOID:2163 http://purl.obolibrary.org/obo/MONDO_0002232 nasal cavity disease or disorder|nasal cavity disorder|disorder of nasal cavity|disease of nasal cavity|disorder of nasal cavity|disease or disorder of nasal cavity|nasal cavity disease MONDO:0004893 hypertropia biolink:Disease mondo UMLS:C0020575|SCTID:40608009|ICD9:378.31|NCIT:C34716|ICD10:H50.2|DOID:9837|COHD:375275 Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye. NCIT:C34716|SNOMEDCT:40608009|DOID:9837|UMLS:C0020575 http://purl.obolibrary.org/obo/MONDO_0004893 HGNC:11219 SPARC biolink:OntologyClass mondo http://identifiers.org/hgnc/11219 MONDO:0004890 partial central choroid dystrophy biolink:Disease mondo ICD9:363.53|DOID:9822|SCTID:193468002|UMLS:C0339427 UMLS:C0339427|SNOMEDCT:193468002|DOID:9822 http://purl.obolibrary.org/obo/MONDO_0004890 partial central dystrophy of choroid|circinate choroidal dystrophy|choroidal dystrophy, central areolar|partial central choroid dystrophy MONDO:0014226 idiopathic CD4 lymphocytopenia biolink:Disease mondo GARD:0012375|ICD10:D72.8|UMLS:C3809768|Orphanet:228000|SCTID:763713000|OMIM:615518 Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed. ORPHA:228000|http://identifiers.org/omim/615518|SNOMEDCT:763713000|UMLS:C3809768 http://purl.obolibrary.org/obo/MONDO_0014226 ICL|immunodeficiency 13; IMD13|idiopathic CD4 positive T-lymphocytopenia|idiopathic Cd4 lymphopenia|IMD13|immunodeficiency type 13|immunodeficiency 13 ordo_disease MONDO:0016889 partial deletion of the short arm of chromosome 7 biolink:Disease mondo GARD:0001346|ICD10:Q93.5|Orphanet:261911 Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. ORPHA:261911 http://purl.obolibrary.org/obo/MONDO_0016889 partial monosomy 7p|monosomy 7p|chromosome 7p deletion|partial deletion of the short arm of chromosome type 7|deletion 7p|partial monosomy of the short arm of chromosome 7|partial monosomy of chromosome 7p|partial deletion of chromosome 7p|7p deletion|7p monosomy ordo_group_of_disorders|gard_rare MONDO:0014225 hemochromatosis type 5 biolink:Disease mondo ICD10:E83.1|Orphanet:447792|DOID:0111031|UMLS:C1851316|OMIM:615517|MESH:C565020|Orphanet:247790|UMLS:CN237708|UMLS:CN181217 Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene. http://identifiers.org/omim/615517|UMLS:C1851316|UMLS:CN181217|MESH:C565020|DOID:0111031|UMLS:CN237708|ORPHA:447792|ORPHA:247790 http://purl.obolibrary.org/obo/MONDO_0014225 hemochromatosis, type 5; HFE5|FTH1-associated iron overload|FTH1-related iron overload|hemochromatosis, type 5|HFE5|iron overload, autosomal dominant|FTH1 hereditary hemochromatosis|hereditary hemochromatosis caused by mutation in FTH1 merged_class|ordo_disease MONDO:0014224 developmental delay with autism spectrum disorder and gait instability biolink:Disease mondo OMIM:615516|Orphanet:329195|UMLS:C3809753 Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. http://identifiers.org/omim/615516|ORPHA:329195|UMLS:C3809753 http://purl.obolibrary.org/obo/MONDO_0014224 intellectual disability, autosomal recessive 38|mental retardation, autosomal recessive 38|mental retardation, autosomal recessive type 38|intellectual disability, autosomal recessive 38; MRT38|developmental delay with ASD and gait instability|MRT38|mental retardation, autosomal recessive 38; MRT38|intellectual disability, autosomal recessive type 38 ordo_disease MONDO:0014223 amyotrophic lateral sclerosis type 19 biolink:Disease mondo OMIM:615515|UMLS:C3715155|DOID:0060210 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene. UMLS:C3715155|http://identifiers.org/omim/615515|DOID:0060210 http://purl.obolibrary.org/obo/MONDO_0014223 ALS19|ERBB4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in ERBB4|amyotrophic lateral sclerosis type 19|amyotrophic lateral sclerosis 19|amyotrophic lateral sclerosis 19; ALS19 MONDO:0016885 partial deletion of the short arm of chromosome 3 biolink:Disease mondo Orphanet:261875|ICD10:Q93.5 ORPHA:261875 http://purl.obolibrary.org/obo/MONDO_0016885 partial deletion of chromosome 3p|partial deletion of the short arm of chromosome type 3|partial monosomy of the short arm of chromosome 3|partial monosomy of chromosome 3p ordo_group_of_disorders MONDO:0014229 microphthalmia, syndromic 12 biolink:Disease mondo UMLS:C3809803|OMIM:615524|GARD:0013235 Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome. http://identifiers.org/omim/615524|UMLS:C3809803 http://purl.obolibrary.org/obo/MONDO_0014229 RARB syndromic microphthalmia|microphthalmia, syndromic type 12|microphthalmia, syndromic 12|microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects|MCOPS12|microphthalmia, syndromic 12; MCOPS12|syndromic microphthalmia-12|syndromic microphthalmia caused by mutation in RARB gard_rare MONDO:0016886 partial deletion of the short arm of chromosome 4 biolink:Disease mondo Orphanet:261884|ICD10:Q93.3 ORPHA:261884 http://purl.obolibrary.org/obo/MONDO_0016886 partial deletion of chromosome 4p|partial deletion of the short arm of chromosome type 4|partial monosomy of the short arm of chromosome 4|partial monosomy of chromosome 4p ordo_group_of_disorders MONDO:0016887 partial deletion of the short arm of chromosome 5 biolink:Disease mondo Orphanet:261893|ICD10:Q93.4 ORPHA:261893 http://purl.obolibrary.org/obo/MONDO_0016887 partial deletion of chromosome 5p|partial monosomy of the short arm of chromosome 5|partial monosomy of chromosome 5p|partial deletion of the short arm of chromosome type 5 ordo_group_of_disorders MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 biolink:Disease mondo UMLS:C3809798|OMIM:615523 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene. http://identifiers.org/omim/615523|UMLS:C3809798 http://purl.obolibrary.org/obo/MONDO_0014228 AGBL1 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in AGBL1|corneal dystrophy, Fuchs endothelial, 8|corneal dystrophy, Fuchs endothelial, 8; FECD8|corneal dystrophy, Fuchs endothelial, type 8|FECD8 HGNC:13886 ABCG5 biolink:OntologyClass mondo http://identifiers.org/hgnc/13886 MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome biolink:Disease mondo Orphanet:324561|OMIM:615522|ICD9:757.39|ICD10:Q82.8|SCTID:711154007|UMLS:C3809781|GARD:0012384 SNOMEDCT:711154007|http://identifiers.org/omim/615522|ORPHA:324561|UMLS:C3809781 http://purl.obolibrary.org/obo/MONDO_0014227 guttate hypopigmentation and punctate palmoplantar keratoderma|Cole disease|COLE disease|COLED|punctate palmoplantar keratoderma with or without ectopic calcification|COLE disease; COLED|guttate hypopigmentation|hypopigmentation and punctate keratosis of the palms and soles|guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification ordo_disease MONDO:0016888 partial deletion of the short arm of chromosome 6 biolink:Disease mondo Orphanet:261902|ICD10:Q93.5 ORPHA:261902 http://purl.obolibrary.org/obo/MONDO_0016888 partial deletion of the short arm of chromosome type 6|partial monosomy of chromosome 6p|partial monosomy of the short arm of chromosome 6|partial deletion of chromosome 6p ordo_group_of_disorders HGNC:13887 ABCG8 biolink:OntologyClass mondo http://identifiers.org/hgnc/13887 HGNC:11226 SPG11 biolink:OntologyClass mondo http://identifiers.org/hgnc/11226 MONDO:0016881 partial deletion of chromosome 19 biolink:Disease mondo ICD10:Q93.5|Orphanet:261841 ORPHA:261841 http://purl.obolibrary.org/obo/MONDO_0016881 partial monosomy of chromosome 19|partial deletion of chromosome type 19 ordo_group_of_disorders MONDO:0016882 partial deletion of chromosome 20 biolink:Disease mondo Orphanet:261846|ICD10:Q93.5 ORPHA:261846 http://purl.obolibrary.org/obo/MONDO_0016882 partial monosomy of chromosome 20|partial deletion of chromosome type 20 ordo_group_of_disorders MONDO:0016883 partial deletion of the short arm of chromosome 1 biolink:Disease mondo NCIT:C36501|GARD:0003730|Orphanet:261857|ICD10:Q93.5|UMLS:C0795796|MESH:C535591 Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. NCIT:C36501|ORPHA:261857|UMLS:C0795796|MESH:C535591 http://purl.obolibrary.org/obo/MONDO_0016883 del(1p)|partial deletion of chromosome 1p|loss of chromosome 1p|chromosome 1p deletion|partial monosomy 1p|monosomy 1p|partial deletion of the short arm of chromosome type 1|deletion 1p|partial monosomy of the short arm of chromosome 1|1p deletion|partial monosomy of chromosome 1p|1p monosomy gard_rare|ordo_group_of_disorders MONDO:0016884 partial deletion of the short arm of chromosome 2 biolink:Disease mondo ICD10:Q93.5|Orphanet:261866 ORPHA:261866 http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of chromosome 2p|partial deletion of the short arm of chromosome type 2|partial monosomy of the short arm of chromosome 2|partial monosomy of chromosome 2p ordo_group_of_disorders MONDO:0014222 immunodeficiency 14 biolink:Disease mondo OMIM:615513 http://identifiers.org/omim/615513 http://purl.obolibrary.org/obo/MONDO_0014222 immunodeficiency 14|immunodeficiency type 14|Activated PI3K-Delta syndrome|p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency|immunodeficiency 14; IMD14|IMD14 MONDO:0014221 triosephosphate isomerase deficiency biolink:Disease mondo OMIM:615512|SCTID:234405009|MESH:C566029|ICD9:282.3|DOID:0050884|UMLS:C1860808|Orphanet:868|ICD10:D55.2|GARD:0005287|NCIT:C131652 Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration. SNOMEDCT:234405009|MESH:C566029|UMLS:C0398562|DOID:0050884|ORPHA:868|UMLS:C1860808|NCIT:C131652|http://identifiers.org/omim/615512 http://purl.obolibrary.org/obo/MONDO_0014221 triose phosphate-isomerase deficiency|TPID|triosephosphate isomerase deficiency|TPI deficiency|triosephosphate isomerase deficiency; TPID ordo_disease|gard_rare MONDO:0014220 myopathy due to myoadenylate deaminase deficiency biolink:Disease mondo GARD:0000547|OMIM:615511 http://identifiers.org/omim/615511 http://purl.obolibrary.org/obo/MONDO_0014220 AMP deaminase 1 deficiency|AMPD1 deficiency|MMDD|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|adenosine monophosphate deaminase deficiency|adenosine monophosphate deaminase 1 deficiency|myopathy due to myoadenylate deaminase deficiency; MMDD|myopathy due to myoadenylate deaminase deficiency|myoadenylate deaminase deficiency|AMP deaminase deficiency gard_rare|prototype_pattern MONDO:0016880 partial deletion of chromosome 18 biolink:Disease mondo Orphanet:261836|ICD10:Q93.5 ORPHA:261836 http://purl.obolibrary.org/obo/MONDO_0016880 partial deletion of chromosome type 18|partial monosomy of chromosome 18 ordo_group_of_disorders MONDO:0002248 obsolete myeloproliferative neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002248 MONDO:0002249 thrombocytosis disease biolink:Disease mondo NCIT:C35530|DOID:2228|SCTID:6631009|MESH:D013922|ICD9:289.9|UMLS:C0836924 A disease characterized by higher than normal platelet counts in the peripheral blood. SNOMEDCT:6631009|NCIT:C35530|MESH:D013922|DOID:2228|UMLS:C0836924 http://purl.obolibrary.org/obo/MONDO_0002249 thrombocytosis|elevated Platelet count|Platelet count increased|Thrombocythaemia HGNC:23215 PIGO biolink:OntologyClass mondo http://identifiers.org/hgnc/23215 HGNC:23212 MYH14 biolink:OntologyClass mondo http://identifiers.org/hgnc/23212 GO:0046031 ADP metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving ADP, adenosine 5'-diphosphate. http://purl.obolibrary.org/obo/GO_0046031 ADP metabolism HGNC:23213 PIGW biolink:OntologyClass mondo http://identifiers.org/hgnc/23213 MONDO:0002244 factor VII deficiency biolink:Disease mondo UMLS:C0015503|ICD9:286.3|SCTID:37193007|MESH:D005168 A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. UMLS:C0015503|SNOMEDCT:37193007|MESH:D005168 http://purl.obolibrary.org/obo/MONDO_0002244 F7 deficiency|factor 7 deficiency|factor VII deficiency|deficiency, stable MONDO:0002245 blood platelet disease biolink:Disease mondo MESH:D001791|SCTID:22716005|NCIT:C131634 Disorders caused by abnormalities in platelet count or function. SNOMEDCT:22716005|MESH:D001791|NCIT:C131634 http://purl.obolibrary.org/obo/MONDO_0002245 thrombocytopathy|platelet abnormality|platelet disorder MONDO:0002246 perichondritis of auricle biolink:Disease mondo ICD9:380.0|ICD9:380.00|UMLS:C0155389|ICD10:H61.009|SCTID:34129005|ICD10:H61.00|COHD:136710|DOID:222|ICD10:H61.0 An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. DOID:222|SNOMEDCT:34129005|UMLS:C0155389 http://purl.obolibrary.org/obo/MONDO_0002246 perichondritis of pinna|perichondritis and chondritis of pinna|perichondritis of pinna, unspecified HGNC:23216 ZNF469 biolink:OntologyClass mondo http://identifiers.org/hgnc/23216 MONDO:0002247 factor X deficiency biolink:Disease mondo MESH:D005171|NCIT:C131632 A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. NCIT:C131632|MESH:D005171 http://purl.obolibrary.org/obo/MONDO_0002247 MONDO:0002240 acute perichondritis of pinna biolink:Disease mondo COHD:132333|SCTID:45855004|UMLS:C0155390|ICD9:380.01|DOID:221 Acute form of perichondritis of auricle. DOID:221|UMLS:C0155390|SNOMEDCT:45855004 http://purl.obolibrary.org/obo/MONDO_0002240 perichondritis of auricle, acute|acute perichondritis of auricle NCBITaxon:481310 Demodex folliculorum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_481310 UBERON:0035034 eyelid epithelium biolink:AnatomicalEntity mondo An epithelium that is part of an eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0035034 UBERON:0011088 ligament of knee joint biolink:AnatomicalEntity mondo A ligament that is part of a knee joint. http://purl.obolibrary.org/obo/UBERON_0011088 knee joint ligament MONDO:0002241 factor XIII deficiency biolink:Disease mondo An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII. http://purl.obolibrary.org/obo/MONDO_0002241 FXIIID MONDO:0002242 coagulation protein disease biolink:Disease mondo NCIT:C27215|DOID:2212|MESH:D020147|UMLS:C0600503|SCTID:86075001 Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. SNOMEDCT:86075001|DOID:2212|NCIT:C27215|UMLS:C0600503|MESH:D020147 http://purl.obolibrary.org/obo/MONDO_0002242 coagulation factor deficiency syndrome|coagulation factor deficiency UBERON:0035036 naris epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a naris [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0035036 MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome biolink:Disease mondo UMLS:C3809665|OMIM:615491|Orphanet:352654|ICD10:G31.8 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. UMLS:C3809665|http://identifiers.org/omim/615491|ORPHA:352654 http://purl.obolibrary.org/obo/MONDO_0014209 SPG79|spastic paraplegia 79, autosomal recessive; SPG79|neurodegeneration with optic atrophy, childhood-onset; NDGOA|neurodegeneration with optic atrophy, childhood-onset|spastic paraplegia 79, autosomal recessive|NDGOA ordo_disease MONDO:0002243 hemorrhagic disease biolink:Disease mondo MESH:D006474|DOID:2213|NCIT:C115221|ICD9:287.9|ICD10:D69.9 Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). NCIT:C115221|DOID:2213|MESH:D006474 http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease|hemorrhagic diathesis|bleeding diathesis|bleeding tendency|bleeding predisposition|bleeding disorder GO:0048699 generation of neurons biolink:OntologyClass mondo The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons. http://purl.obolibrary.org/obo/GO_0048699 neuron generation UBERON:0035038 carpal tunnel biolink:AnatomicalEntity mondo The fibro-osseous passageway on the palmar side of the wrist that connects the distal forearm to the middle compartment of the deep plane of the palm. http://purl.obolibrary.org/obo/UBERON_0035038 carpal canal|carpel tunnel UBERON:0035037 jaw epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035037 GO:0046034 ATP metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/GO_0046034 ATP metabolism UBERON:0035039 rectal artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035039 hemorrhoidal artery MONDO:0014215 primary ciliary dyskinesia 27 biolink:Disease mondo OMIM:615504|UMLS:C3809701|DOID:0110611|ICD10:Q34.8 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene. http://identifiers.org/omim/615504|DOID:0110611|UMLS:C3809701 http://purl.obolibrary.org/obo/MONDO_0014215 CILD27|primary ciliary dyskinesia caused by mutation in CCDC65|ciliary dyskinesia, primary, 27|ciliary dyskinesia, primary, 27; CILD27|CCDC65 primary ciliary dyskinesia|primary ciliary dyskinesia type 27|ciliary dyskinesia, primary, 27, without situs inversus|primary ciliary dyskinesia 27 without situs inversus|ciliary dyskinesia, primary, type 27 MONDO:0016878 partial deletion of chromosome 16 biolink:Disease mondo ICD10:Q93.5|Orphanet:261826 ORPHA:261826 http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome type 16|partial monosomy of chromosome 16 ordo_group_of_disorders MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly biolink:Disease mondo UMLS:C3809691|OMIM:615503|DOID:0110094|ICD10:Q77.2 An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. http://identifiers.org/omim/615503|DOID:0110094|UMLS:C3809691 http://purl.obolibrary.org/obo/MONDO_0014214 short rib-polydactyly syndrome, type 6|short-rib thoracic dysplasia 8 with or without polydactyly; SRTD8|SRPS6|SRTD8|short rib-polydactyly syndrome type VI|short-rib thoracic dysplasia 8 with or without polydactyly MONDO:0016879 partial deletion of chromosome 17 biolink:Disease mondo Orphanet:261831|ICD10:Q93.5 ORPHA:261831 http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome type 17|partial monosomy of chromosome 17 ordo_group_of_disorders MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome biolink:Disease mondo DOID:0070051|ICD10:Q87.8|OMIM:615502|Orphanet:363611|UMLS:C3809686 DOID:0070051|http://identifiers.org/omim/615502|ORPHA:363611|UMLS:C3809686 http://purl.obolibrary.org/obo/MONDO_0014213 intellectual disability, autosomal dominant type 21|mental retardation, autosomal dominant 21|intellectual disability, autosomal dominant 21; MRD21|autosomal dominant intellectual disability 21|autosomal dominant mental retardation 21|autosomal dominant non-syndromic intellectual disability 21|MRD21|intellectual disability, autosomal dominant 21|mental retardation, autosomal dominant type 21|mental retardation, autosomal dominant 21; MRD21 ordo_disease MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C biolink:Disease mondo DOID:0111166|PMID:11095995|ICD10:E72.1|OMIM:615501|MESH:C565374|Orphanet:308400|UMLS:C1854990 A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23. http://identifiers.org/omim/615501|DOID:0111166|MESH:C565374|UMLS:C1854990|ORPHA:308400 http://purl.obolibrary.org/obo/MONDO_0014212 molybdenum cofactor deficiency, complementation group C; MOCODC|molybdenum cofactor deficiency complementation group C|molybdenum cofactor deficiency, complementation group type C|MOCOD type C|molybdenum cofactor deficiency, complementation group C|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C|molybdenum cofactor deficiency type C|MOCODC ordo_etiological_subtype HGNC:11233 SPAST biolink:OntologyClass mondo http://identifiers.org/hgnc/11233 MONDO:0014219 alacrima, achalasia, and mental retardation syndrome biolink:Disease mondo OMIM:615510|UMLS:C3809738|GARD:0012404 UMLS:C3809738|http://identifiers.org/omim/615510 http://purl.obolibrary.org/obo/MONDO_0014219 alacrima, achalasia, and intellectual disability syndrome|AAMR|GMPPA-CDG|alacrima, achalasia, and intellectual disability syndrome; AAMR|alacrima, achalasia, and mental retardation syndrome|alacrima, achalasia, and mental retardation syndrome; AAMR MONDO:0016874 partial deletion of chromosome 9 biolink:Disease mondo ICD10:Q93.5|Orphanet:261806 ORPHA:261806 http://purl.obolibrary.org/obo/MONDO_0016874 partial deletion of chromosome type 9|partial monosomy of chromosome 9 ordo_group_of_disorders MONDO:0016875 partial deletion of chromosome 10 biolink:Disease mondo Orphanet:261811|ICD10:Q93.5 ORPHA:261811 http://purl.obolibrary.org/obo/MONDO_0016875 partial monosomy of chromosome 10 ordo_group_of_disorders MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome biolink:Disease mondo OMIM:615508|UMLS:C3809719|Orphanet:369992|ICD10:Q82.8 UMLS:C3809719|ORPHA:369992|http://identifiers.org/omim/615508 http://purl.obolibrary.org/obo/MONDO_0014218 EPKHE|severe dermatitis, multiple allergies, and metabolic wasting syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE; EPKHE|SAM syndrome|Sam syndrome|congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE ordo_disease MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 biolink:Disease mondo OMIM:615506|UMLS:C3809710 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene. UMLS:C3809710|http://identifiers.org/omim/615506 http://purl.obolibrary.org/obo/MONDO_0014217 telangiectasia, hereditary hemorrhagic, type 5; HHT5|GDF2 hereditary hemorrhagic telangiectasia|telangiectasia, hereditary hemorrhagic, type 5|hereditary hemorrhagic telangiectasia caused by mutation in GDF2|HHT5 MONDO:0016876 partial deletion of chromosome 11 biolink:Disease mondo ICD10:Q93.5|Orphanet:261816 ORPHA:261816 http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome type 11|partial monosomy of chromosome 11 ordo_group_of_disorders MONDO:0014216 primary ciliary dyskinesia 28 biolink:Disease mondo OMIM:615505|ICD10:Q34.8|UMLS:C3809706|DOID:0110607 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene. UMLS:C3809706|http://identifiers.org/omim/615505|DOID:0110607 http://purl.obolibrary.org/obo/MONDO_0014216 primary ciliary dyskinesia caused by mutation in SPAG1|primary ciliary dyskinesia 28 with or without situs inversus|primary ciliary dyskinesia type 28|ciliary dyskinesia, primary, 28|ciliary dyskinesia, primary, 28; CILD28|CILD28|ciliary dyskinesia, primary, 28, with or without situs inversus|SPAG1 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 28 MONDO:0016877 partial deletion of the long arm of chromosome 12 biolink:Disease mondo Orphanet:261821|ICD10:Q93.5 ORPHA:261821 http://purl.obolibrary.org/obo/MONDO_0016877 partial deletion of chromosome 12q|partial monosomy of chromosome 12q|partial deletion of the long arm of chromosome type 12|partial monosomy of the long arm of chromosome 12 ordo_group_of_disorders HGNC:11237 SPG7 biolink:OntologyClass mondo http://identifiers.org/hgnc/11237 MONDO:0016870 partial deletion of chromosome 5 biolink:Disease mondo Orphanet:261786 ORPHA:261786 http://purl.obolibrary.org/obo/MONDO_0016870 partial deletion of chromosome type 5|partial monosomy of chromosome 5 ordo_group_of_disorders MONDO:0016871 partial deletion of chromosome 6 biolink:Disease mondo ICD10:Q93.5|Orphanet:261791 ORPHA:261791 http://purl.obolibrary.org/obo/MONDO_0016871 partial deletion of chromosome type 6|partial monosomy of chromosome 6 ordo_group_of_disorders MONDO:0016872 partial deletion of chromosome 7 biolink:Disease mondo Orphanet:261796|ICD10:Q93.5 ORPHA:261796 http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome type 7|partial monosomy of chromosome 7 ordo_group_of_disorders MONDO:0016873 partial deletion of chromosome 8 biolink:Disease mondo ICD10:Q93.5|Orphanet:261801 ORPHA:261801 http://purl.obolibrary.org/obo/MONDO_0016873 partial monosomy of chromosome 8|partial deletion of chromosome type 8 ordo_group_of_disorders MONDO:0014211 primary ciliary dyskinesia 26 biolink:Disease mondo ICD10:Q34.8|OMIM:615500|DOID:0110627|UMLS:C3809684 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene. http://identifiers.org/omim/615500|DOID:0110627|UMLS:C3809684 http://purl.obolibrary.org/obo/MONDO_0014211 primary ciliary dyskinesia caused by mutation in CFAP298|CILD26|ciliary dyskinesia, primary, 26|ciliary dyskinesia, primary, 26; CILD26|ciliary dyskinesia, primary, 26, with or without situs inversus|primary ciliary dyskinesia type 26|CFAP298 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 26|primary ciliary dyskinesia 26 with or without situs inversus MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome biolink:Disease mondo UMLS:C3809672|Orphanet:356996|ICD10:G93.8|OMIM:615493 http://identifiers.org/omim/615493|UMLS:C3809672|ORPHA:356996 http://purl.obolibrary.org/obo/MONDO_0014210 mental retardation, autosomal recessive type 37|mental retardation, autosomal recessive 37|intellectual disability, autosomal recessive type 37|MRT37|intellectual disability, autosomal recessive 37|mental retardation, autosomal recessive 37; MRT37|intellectual disability, autosomal recessive 37; MRT37 ordo_disease MONDO:0041806 drug-resistant tuberculosis biolink:Disease mondo SCTID:423709000 SNOMEDCT:423709000 http://purl.obolibrary.org/obo/MONDO_0041806 drug resistant tuberculosis HGNC:11231 ATL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11231 HGNC:13890 ITCH biolink:OntologyClass mondo http://identifiers.org/hgnc/13890 HGNC:25964 RETREG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/25964 MONDO:0022586 bone dysplasia Moore type biolink:Disease mondo GARD:0000923 http://purl.obolibrary.org/obo/MONDO_0022586 gard_rare MONDO:0022587 bone dysplasia corpus callosum agenesis biolink:Disease mondo GARD:0000921 http://purl.obolibrary.org/obo/MONDO_0022587 gard_rare MONDO:0022580 blepharo naso facial syndrome van Maldergem type biolink:Disease mondo GARD:0000902 A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing. http://purl.obolibrary.org/obo/MONDO_0022580 gard_rare GO:1905125 positive regulation of glucosylceramidase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of glucosylceramidase activity. http://purl.obolibrary.org/obo/GO_1905125 up-regulation of glucosylsphingosine beta-D-glucosidase activity|upregulation of beta-glucosylceramidase activity|positive regulation of GlcCer-beta-glucosidase activity|upregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|positive regulation of beta-glucocerebrosidase activity|upregulation of psychosine hydrolase activity|up regulation of ceramide glucosidase activity|upregulation of glucosylsphingosine beta-glucosidase activity|up regulation of GlcCer-beta-glucosidase activity|upregulation of glucosylcerebrosidase activity|activation of ceramide glucosidase activity|up regulation of beta-glucocerebrosidase activity|up regulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of glucocerebrosidase activity|positive regulation of beta-glucosylceramidase activity|activation of glucosylsphingosine beta-D-glucosidase activity|upregulation of acid beta-glucosidase activity|positive regulation of ceramide glucosidase activity|activation of GlcCer-beta-glucosidase activity|positive regulation of glucosylsphingosine beta-D-glucosidase activity|positive regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up-regulation of GlcCer-beta-glucosidase activity|positive regulation of glucosylcerebrosidase activity|upregulation of beta-D-glucocerebrosidase activity|up regulation of glucocerebrosidase activity|up-regulation of glucosylceramidase activity|up-regulation of beta-glucocerebrosidase activity|activation of beta-glucocerebrosidase activity|up regulation of beta-glucosylceramidase activity|up-regulation of glucosphingosine glucosylhydrolase activity|up regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|activation of glucocerebrosidase activity|upregulation of ceramide glucosidase activity|positive regulation of GCase activity|positive regulation of glucocerebrosidase activity|up-regulation of psychosine hydrolase activity|up regulation of glucosylcerebrosidase activity|positive regulation of acid beta-glucosidase activity|upregulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of beta-glucosylceramidase activity|up regulation of glucosphingosine glucosylhydrolase activity|activation of beta-glucosylceramidase activity|up-regulation of glucosylsphingosine beta-glucosidase activity|up regulation of glucosylceramidase activity|activation of glucosylceramidase activity|up regulation of acid beta-glucosidase activity|activation of glucosphingosine glucosylhydrolase activity|up-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|activation of D-glucosyl-N-acylsphingosine glucohydrolase activity|positive regulation of beta-D-glucocerebrosidase activity|activation of glucosylcerebrosidase activity|positive regulation of glucosphingosine glucosylhydrolase activity|up regulation of psychosine hydrolase activity|up-regulation of glucosylcerebrosidase activity|upregulation of glucocerebrosidase activity|up regulation of beta-D-glucocerebrosidase activity|upregulation of GlcCer-beta-glucosidase activity|up regulation of glucosylsphingosine beta-glucosidase activity|activation of psychosine hydrolase activity|upregulation of beta-glucocerebrosidase activity|positive regulation of psychosine hydrolase activity|up-regulation of acid beta-glucosidase activity|activation of glucosylsphingosine beta-glucosidase activity|activation of acid beta-glucosidase activity|positive regulation of glucosylsphingosine beta-glucosidase activity|up-regulation of ceramide glucosidase activity|upregulation of glucosphingosine glucosylhydrolase activity|upregulation of glucosylceramidase activity|up-regulation of beta-D-glucocerebrosidase activity|activation of beta-D-glucocerebrosidase activity HGNC:11326 SSR4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11326 ENVO:01001088 aerosolised liquids biolink:OntologyClass mondo An aerosol which has non-gaseous parts that are primarily composed of liquid droplets. http://purl.obolibrary.org/obo/ENVO_01001088 liquid aerosol ENVO:01001087 formation of a liquid aerosol in an atmosphere biolink:OntologyClass mondo A process during which an aerosol, consisting of droplets of liquid suspended in gas, is formed in an atmosphere. http://purl.obolibrary.org/obo/ENVO_01001087 formation of liquid droplets in an atmosphere|formation of liquid particles in an atmosphere ENVO:01001089 aerosolised solids biolink:OntologyClass mondo An aerosol which has non-gaseous parts that are primarily composed of solid particles. http://purl.obolibrary.org/obo/ENVO_01001089 solid aerosol ENVO:01001084 particulate matter formation process biolink:OntologyClass mondo A process during which microscopic solid or liquid objects are formed. http://purl.obolibrary.org/obo/ENVO_01001084 particle formation GO:0090324 negative regulation of oxidative phosphorylation biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/GO_0090324 ENVO:01001086 formation of a solid aerosol in an atmosphere biolink:OntologyClass mondo A process during which an aerosol, consisting of solid particulates suspended in a gas, is formed in an atmosphere. http://purl.obolibrary.org/obo/ENVO_01001086 formation of solid particles in an atmosphere ENVO:01001085 atmospheric aerosol formation biolink:OntologyClass mondo An aerosol formation process which occurs in an atmosphere. http://purl.obolibrary.org/obo/ENVO_01001085 atmospheric aerosol formation MONDO:0022572 bilateral renal agenesis dominant type biolink:Disease mondo GARD:0000885 http://purl.obolibrary.org/obo/MONDO_0022572 gard_rare MONDO:0022573 biliary atresia intrahepatic non syndromic form biolink:Disease mondo GARD:0000887 http://purl.obolibrary.org/obo/MONDO_0022573 gard_rare MONDO:0022574 biliary atresia intrahepatic syndromic form biolink:Disease mondo GARD:0000888 http://purl.obolibrary.org/obo/MONDO_0022574 gard_rare MONDO:0022575 biliary hypoplasia biolink:Disease mondo GARD:0008383 A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts. http://purl.obolibrary.org/obo/MONDO_0022575 gard_rare MONDO:0022576 bilirubin induced brain injury in the newborn biolink:Disease mondo GARD:0009243 http://purl.obolibrary.org/obo/MONDO_0022576 gard_rare MONDO:0022577 Billet bear syndrome biolink:Disease mondo GARD:0000892 A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. http://purl.obolibrary.org/obo/MONDO_0022577 Lower limb partial duplication renal agenesis|billet-bear syndrome gard_rare MONDO:0022578 childhood bladder carcinoma biolink:Disease mondo UMLS:C3899675|GARD:0009305|NCIT:C118816 A rare carcinoma of the bladder that occurs during childhood. NCIT:C118816|UMLS:C3899675 http://purl.obolibrary.org/obo/MONDO_0022578 childhood bladder cancer|bladder cancer childhood|bladder cancer|bladder carcinoma, childhood|childhood bladder carcinoma|bladder cancer, childhood gard_rare MONDO:0010594 inherited genitourinary tract anomalies (disease) biolink:Disease mondo OMIM:305690|MESH:C564424|HP:0000119 http://identifiers.org/omim/305690|MESH:C564424 http://purl.obolibrary.org/obo/MONDO_0010594 genitourinary tract anomalies HGNC:11335 SSX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11335 MONDO:0010593 obsolete Frontometaphyseal dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010593 MONDO:0010596 membranoproliferative glomerulonephritis, X-linked biolink:Disease mondo UMLS:C1844501|MESH:C564423|OMIM:305800 UMLS:C1844501|http://identifiers.org/omim/305800|MESH:C564423 http://purl.obolibrary.org/obo/MONDO_0010596 membranoproliferative glomerulonephritis, X-linked|Mesangiocapillary glomerulonephritis, X-linked MONDO:0010595 Sertoli cell-only syndrome biolink:Disease mondo GARD:0008406|SCTID:73465006|MESH:D054331|EFO:1001422|DOID:0050457|ICD9:752.89 Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children. MESH:D054331|DOID:0050457|SNOMEDCT:73465006 http://purl.obolibrary.org/obo/MONDO_0010595 Sertoli cell-only syndrome|Del Castillo syndrome|Germinal cell aplasia|DEL CASTILLO syndrome gard_rare MONDO:0010598 glycogen storage disease IXa biolink:Disease mondo MESH:C564421|OMIM:306000|ICD10:E74.0|DOID:0111042 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene. DOID:0111042|MESH:C564421|http://identifiers.org/omim/306000 http://purl.obolibrary.org/obo/MONDO_0010598 GSD9A1|glycogen storage disease IXa1|glycogen storage disease type 9A|PHKA2 glycogen storage disease|GSD type 9A|glycogen storage disease VIII, formerly|glycogen storage disease IXa1; GSD9A1|GSD type IXa|GSD VIII, formerly|glycogen storage disease VIII|GSD VIII|glycogen storage disease type IXa|glycogenosis type IXa|liver glycogenosis, X-linked, type 2|glycogenosis type 9A|glycogen storage disease IXa2|liver glycogenosis, X-linked, type 1|GSD IXa2|GSD9A|PHKA2-related glycogen storage disease type IX|glycogen storage disease caused by mutation in PHKA2 MONDO:0010597 glutamyl ribose-5-phosphate storage disease biolink:Disease mondo MESH:C564422|OMIM:305920|UMLS:C1844440 UMLS:C1844440|MESH:C564422|http://identifiers.org/omim/305920 http://purl.obolibrary.org/obo/MONDO_0010597 ADP-ribose Protein hydrolase deficiency|glutamyl ribose-5-phosphate storage disease NCBITaxon:302011 Rickettsia conorii subsp. caspia organism taxon mondo PMID:15766388|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_302011 MONDO:0010599 granulomas, congenital cerebral biolink:Disease mondo UMLS:C1844406|OMIM:306300|GARD:0008368|MESH:C537294 UMLS:C1844406|MESH:C537294|http://identifiers.org/omim/306300 http://purl.obolibrary.org/obo/MONDO_0010599 congenital cerebral granulomas|granulomas, congenital cerebral gard_rare HGNC:11336 SSX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11336 HGNC:13997 PRDM12 biolink:OntologyClass mondo http://identifiers.org/hgnc/13997 HGNC:13993 PRDM8 biolink:OntologyClass mondo http://identifiers.org/hgnc/13993 MONDO:0010590 FG syndrome 1 biolink:Disease mondo OMIM:305450|Orphanet:93932 Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene. ORPHA:93932|http://identifiers.org/omim/305450 http://purl.obolibrary.org/obo/MONDO_0010590 FG syndrome|Opitz-Kaveggia syndrome|FG syndrome type 1|Opitz-Kaveggia syndrome; OKS|MED12 FG syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|Keller syndrome|OKS|FG syndrome caused by mutation in MED12|FG syndrome 1|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum MONDO:0010592 focal dermal hypoplasia biolink:Disease mondo Orphanet:2092|SCTID:205573006|DOID:2120|UMLS:C0016395|GARD:0006457|MESH:D005489|OMIM:305600|ICD9:757.39|NCIT:C84715|ICD10:Q82.8 Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. http://identifiers.org/omim/305600|DOID:2120|MESH:D005489|NCIT:C84715|UMLS:C0016395|ORPHA:2092|SNOMEDCT:205573006 http://purl.obolibrary.org/obo/MONDO_0010592 Goltz Gorlin syndrome|Goltz-Gorlin syndrome|focal dermal hypoplasia|focal dermal hypoplasia; FDH|Goltz syndrome|Fodh|DHOF|FDH ordo_malformation_syndrome MONDO:0010591 fingerprint body myopathy biolink:Disease mondo OMIM:305550|ICD10:G71.2|Orphanet:97232|UMLS:C1844560|MESH:C564425|GARD:0012720 Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission. http://identifiers.org/omim/305550|MESH:C564425|UMLS:C1844560|ORPHA:97232 http://purl.obolibrary.org/obo/MONDO_0010591 fingerprint body myopathy ordo_disease|gard_rare HGNC:25941 TET2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25941 HGNC:25947 KLHL24 biolink:OntologyClass mondo http://identifiers.org/hgnc/25947 MONDO:0022566 obsolete BEST1 retinopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022566 gard_rare MONDO:0022567 bhaskar jagannathan syndrome biolink:Disease mondo MESH:C535437|UMLS:C2930901 MESH:C535437|UMLS:C2930901 http://purl.obolibrary.org/obo/MONDO_0022567 MONDO:0022568 bidirectional tachycardia biolink:Disease mondo GARD:0000878|UMLS:C2930902|MESH:C535438 UMLS:C2930902|MESH:C535438 http://purl.obolibrary.org/obo/MONDO_0022568 bidirectional ventricular tachycardia gard_rare MONDO:0010579 X-linked corneal dermoid biolink:Disease mondo SCTID:715426004|UMLS:C1844671|OMIM:304730|ICD10:Q13.4|MESH:C535376|Orphanet:1661|GARD:0002580 X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. SNOMEDCT:715426004|UMLS:C1844671|ORPHA:1661|MESH:C535376|http://identifiers.org/omim/304730 http://purl.obolibrary.org/obo/MONDO_0010579 dermoids of cornea|corneal dermoids and short stature|Guízar Vázquez-Luengas-muñoz syndrome|dermoids of cornea; CND|bilateral corneal dermoids|CND|corneal dystrophy epithelial-short stature syndrome|Guizar-Vazquez Luengas-Munoz syndrome ordo_disease|gard_rare MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome biolink:Disease mondo GARD:0003552|OMIM:249710|MESH:C565404|SCTID:715471007|ICD10:Q78.8|Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. http://identifiers.org/omim/249710|UMLS:C2930871|SNOMEDCT:715471007|ORPHA:2631|MESH:C565404 http://purl.obolibrary.org/obo/MONDO_0009589 mesomelic dysplasia, Reardon type|Reardon-Hall-Slaney syndrome|mesomelic dysplasia, Kozlowski-Reardon type|mesomelic dwarfism cleft palate camptodactyly|mesomelic limb shortening and bowing ordo_malformation_syndrome|gard_rare MONDO:0009588 Langer mesomelic dysplasia biolink:Disease mondo UMLS:C0432230|Orphanet:2632|OMIM:249700|NCIT:C126876|ICD10:Q87.1|SCTID:38494008|ICD9:756.59|MESH:C537267|GARD:0003553 Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. NCIT:C126876|http://identifiers.org/omim/249700|ORPHA:2632|MESH:C537267|UMLS:C0432230|SNOMEDCT:38494008 http://purl.obolibrary.org/obo/MONDO_0009588 Langer mesomelic dysplasia; LMD|dyschondrosteosis, homozygous|mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type|Langer type mesomelic dysplasia|mesomelic dwarfism, Langer type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|Langer syndrome|Langer mesomelic dysplasia|LMD ordo_malformation_syndrome|gard_rare GO:1905153 regulation of membrane invagination biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of membrane invagination. http://purl.obolibrary.org/obo/GO_1905153 MONDO:0009587 mesoaxial hexadactyly and cardiac malformation biolink:Disease mondo OMIM:249670|MESH:C563087|UMLS:C0796057 http://identifiers.org/omim/249670|UMLS:C0796057|MESH:C563087 http://purl.obolibrary.org/obo/MONDO_0009587 Mexican Cardiomelic dysplasia|mesoaxial hexadactyly and cardiac malformation GO:1905154 negative regulation of membrane invagination biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of membrane invagination. http://purl.obolibrary.org/obo/GO_1905154 downregulation of membrane invagination|inhibition of membrane invagination|down-regulation of membrane invagination|down regulation of membrane invagination MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities biolink:Disease mondo MESH:C565405|UMLS:C1855282|OMIM:249660 http://identifiers.org/omim/249660|MESH:C565405|UMLS:C1855282 http://purl.obolibrary.org/obo/MONDO_0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities GO:1905155 positive regulation of membrane invagination biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of membrane invagination. http://purl.obolibrary.org/obo/GO_1905155 up-regulation of membrane invagination|up regulation of membrane invagination|activation of membrane invagination|upregulation of membrane invagination MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria biolink:Disease mondo ICD10:E72.1|GARD:0000654|OMIM:249650|Orphanet:1035|MESH:C563085|UMLS:C0796055 http://identifiers.org/omim/249650|UMLS:C0796055|ORPHA:1035|MESH:C563085 http://purl.obolibrary.org/obo/MONDO_0009585 Beta-mercaptolactate cysteine disulfiduria|3-mercaptopyruvate sulfurtransferase deficiency|mercaptolactate-cysteine disulfiduria; MCDU|disulfiduria, mixed|mercaptolactate-cysteine disulfiduria|Ampola syndrome|MCDU ordo_disease|gard_rare MONDO:0009584 intellectual disability, Buenos-Aires type biolink:Disease mondo OMIM:249630|SCTID:725906006|ICD10:Q87.8|Orphanet:3079|UMLS:C0796080|GARD:0003485|MESH:C563095 Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. http://identifiers.org/omim/249630|UMLS:C0796080|ORPHA:3079|MESH:C563095|SNOMEDCT:725906006 http://purl.obolibrary.org/obo/MONDO_0009584 mental retardation Buenos Aires type|intellectual deficit Buenos-Aires type|Mutchinick syndrome|mental retardation, Buenos Aires type|intellectual disability, Buenos Aires type|intellectual disability Buenos Aires type gard_rare|ordo_malformation_syndrome MONDO:0022560 benign metastasizing leiomyoma biolink:Disease mondo GARD:0010776 A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord. http://purl.obolibrary.org/obo/MONDO_0022560 gard_rare MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type biolink:Disease mondo SCTID:412787009|ICD9:374.89|OMIM:249620|Orphanet:2728|ICD9:525.8|UMLS:C0796094 Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. UMLS:C2931643|SNOMEDCT:412787009|UMLS:C0796094|ORPHA:2728|http://identifiers.org/omim/249620 http://purl.obolibrary.org/obo/MONDO_0009583 Ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo-Madokoro-Sonoda syndrome|intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo syndrome|blepharophimosis syndrome, Ohdo type|BMRS, Ohdo type ordo_malformation_syndrome MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked biolink:Disease mondo OMIM:304950|UMLS:C1844654 X-linked form of Dyggve-Melchior-Clausen disease. UMLS:C1844654|http://identifiers.org/omim/304950 http://purl.obolibrary.org/obo/MONDO_0010583 Dyggve-Melchior-Clausen disease, X-linked|X-linked Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen syndrome, X-linked GO:0090305 nucleic acid phosphodiester bond hydrolysis biolink:OntologyClass mondo The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis. http://purl.obolibrary.org/obo/GO_0090305 nucleic acid cleavage MONDO:0009582 Mietens syndrome biolink:Disease mondo SCTID:40291001|OMIM:249600|GARD:0003524|UMLS:C0265249|Orphanet:2557|MESH:C537444|ICD9:759.89|ICD10:Q87.8 Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. ORPHA:2557|UMLS:C0265249|MESH:C537444|SNOMEDCT:40291001|http://identifiers.org/omim/249600 http://purl.obolibrary.org/obo/MONDO_0009582 intellectual disability syndrome, Mietens-WEBER type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation|Mietens-Weber syndrome|mental retardation syndrome, Mietens Weber type|intellectual disability, Mietens-Weber type|mental retardation syndrome, Mietens-WEBER type|intellectual disability syndrome, Mietens Weber type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability ordo_malformation_syndrome MONDO:0010582 obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance biolink:Disease mondo UMLS:CN074293|OMIM:304900 http://identifiers.org/omim/304900|UMLS:CN074293 http://purl.obolibrary.org/obo/MONDO_0010582 diabetes insipidus, neurohypophyseal type GO:0090303 positive regulation of wound healing biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/GO_0090303 MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome biolink:Disease mondo SCTID:722454003|UMLS:C1855303|OMIM:249599|Orphanet:3044|ICD10:Q87.8|MESH:C537447|GARD:0009811 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait. ORPHA:3044|MESH:C537447|SNOMEDCT:722454003|UMLS:C1855303|http://identifiers.org/omim/249599 http://purl.obolibrary.org/obo/MONDO_0009581 intellectual disability syndrome, Belgian type|Belgian type mental retardation syndrome|Belgian type intellectual disability syndrome|mental retardation syndrome, Belgian type gard_rare|ordo_malformation_syndrome MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia biolink:Disease mondo GARD:0010427|ICD10:Q82.4|Orphanet:181|OMIM:305100 An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin. ORPHA:181|UMLS:C0162359|http://identifiers.org/omim/305100|MESH:D053358 http://purl.obolibrary.org/obo/MONDO_0010585 X-linked anhidrotic ectodermal dysplasia|ectodermal dysplasia, anhidrotic, X-linked|hypohidrotic ectodermal dysplasia, X-linked|ectodermal dysplasia 1|ectodermal dysplasia 1, hypohidrotic, X-linked|Xlhed|Eda1|hypohidrotic ectodermal dysplasia X-linked|CST syndrome|ectodermal dysplasia 1, hypohidrotic, X-linked; XHED|anhidrotic ectodermal dysplasia X-linked|ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked|Christ-Siemens-Touraine syndrome|ectodermal dysplasia, hypohidrotic, 1|XHED ordo_etiological_subtype MONDO:0009580 intellectual disability, autosomal recessive 1 biolink:Disease mondo MESH:C565406|OMIM:249500|UMLS:C1855304 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene. UMLS:C1855304|MESH:C565406|http://identifiers.org/omim/249500 http://purl.obolibrary.org/obo/MONDO_0009580 mental retardation, autosomal recessive 1; MRT1|intellectual disability, autosomal recessive 1|mental retardation, autosomal recessive type 1|autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12|intellectual disability, autosomal recessive 1; MRT1|mental retardation, autosomal recessive 1|intellectual disability, autosomal recessive type 1|MRT1|PRSS12 autosomal recessive non-syndromic intellectual disability MONDO:0010584 dyskeratosis congenita, X-linked biolink:Disease mondo GARD:0002007|OMIM:305000|DOID:0070025|NCIT:C126352|SCTID:708536001 X-linked form of dyskeratosis congenita. http://identifiers.org/omim/305000|NCIT:C126352|SNOMEDCT:708536001|DOID:0070025 http://purl.obolibrary.org/obo/MONDO_0010584 dyskeratosis congenita X-linked|Zinsser-Cole-Engman syndrome|DKCX|Hoyeraal Hreidarsson syndrome|DKCX|X-linked dyskeratosis congenita|Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia|Hoyeraal-Hreidarsson syndrome|cerebellar hypoplasia with pancytopenia|dyskeratosis congenita, X-linked|X-linked dyskeratosis congenita|dyskeratosis congenita, X-linked; DKCX GO:0090304 nucleic acid metabolic process biolink:OntologyClass mondo Any cellular metabolic process involving nucleic acids. http://purl.obolibrary.org/obo/GO_0090304 MONDO:0010587 epidermodysplasia verruciformis, X-linked biolink:Disease mondo MESH:C564430|UMLS:C1844589|OMIM:305350 X-linked form of epidermodysplasia verruciformis. UMLS:C1844589|http://identifiers.org/omim/305350|MESH:C564430 http://purl.obolibrary.org/obo/MONDO_0010587 epidermodysplasia verruciformis, X-linked; EDVX; EDV2|EDV2|epidermodysplasia verruciformis, X-linked; EDVX|X-linked epidermodysplasia verruciformis|EDVX|epidermodysplasia verruciformis, X-linked MONDO:0010586 X-linked Ehlers-Danlos syndrome biolink:Disease mondo OMIM:305200|ICD10:Q79.6|MESH:C536197|NCIT:C141423|Orphanet:75497|SCTID:67202007|UMLS:C0268341 Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive. MESH:C536197|http://identifiers.org/omim/305200|NCIT:C141423|UMLS:C0268341|SNOMEDCT:67202007|ORPHA:75497 http://purl.obolibrary.org/obo/MONDO_0010586 Ehlers-Danlos syndrome, type V|Ehlers-Danlos syndrome, type 5|Ehlers-Danlos syndrome type 5|Ehlers-Danlos syndrome, X-linked|EDS V|EDS5|EDS 5 ordo_disease MONDO:0010589 Aarskog-Scott syndrome, X-linked biolink:Disease mondo Orphanet:915|OMIM:305400|SCTID:14921002|NCIT:C129720|MedDRA:10067148|GARD:0004775|ICD10:Q87.1|MESH:C535331|ICD9:759.89 Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. NCIT:C129720|http://identifiers.org/omim/305400|MESH:C535331|ORPHA:915|SNOMEDCT:14921002 http://purl.obolibrary.org/obo/MONDO_0010589 Aarskog-Scott syndrome; AAS|faciogenital dysplasia|faciodigitogenital syndrome|mental retardation, X-linked, syndromic 16, included|Aarskog syndrome, X-linked|mental retardation, X-linked, syndromic 16|MRXS16, included|Aarskog syndrome|faciodigitogenital syndrome, recessive|Aarskog Scott syndrome|faciogenital dysplasia with attention Deficit-hyperactivity disorder|AAS|Aarskog-Scott syndrome|FGD|Scott Aarskog syndrome|Aarskog-like syndrome|FGDY|Aarskog disease|facio-digito-genital dysplasia MONDO:0010588 exudative vitreoretinopathy 2, X-linked biolink:Disease mondo UMLS:C1844579|MESH:C564428|OMIM:305390 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene. UMLS:C1844579|http://identifiers.org/omim/305390|MESH:C564428 http://purl.obolibrary.org/obo/MONDO_0010588 Fevr, X-linked|exudative vitreoretinopathy 2, X-linked; EVR2|EVR2|exudative vitreoretinopathy, familial, 2|Evrx|exudative vitreoretinopathy 2, X-linked|NDP exudative vitreoretinopathy|exudative vitreoretinopathy caused by mutation in NDP HGNC:11303 SRP72 biolink:OntologyClass mondo http://identifiers.org/hgnc/11303 MONDO:0022559 benign angiitis of the central nervous system biolink:Disease mondo GARD:0008704 A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event. http://purl.obolibrary.org/obo/MONDO_0022559 BACNS gard_rare MONDO:0010581 diabetes insipidus, nephrogenic, X-linked biolink:Disease mondo UMLS:C1563705|OMIM:304800 http://identifiers.org/omim/304800|UMLS:C1563705 http://purl.obolibrary.org/obo/MONDO_0010581 diabetes insipidus, nephrogenic, type 1|Ndi|diabetes insipidus, nephrogenic, X-linked MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome biolink:Disease mondo ICD9:250.81|OMIM:304790|DOID:0090110|ICD10:E31.0|MESH:C580192|GARD:1850|NCIT:C131009|GARD:0001850|SCTID:237618001|Orphanet:37042 Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. NCIT:C131009|ORPHA:37042|DOID:0090110|MESH:C580192|http://identifiers.org/omim/304790|SNOMEDCT:237618001 http://purl.obolibrary.org/obo/MONDO_0010580 islets of Langerhans, absence of|IPEX syndrome|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly|XLAAD|diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea|autoimmunity-immunodeficiency syndrome x-linked|IDDM secretory diarrhea syndrome|polyendocrinopathy, immune dysfunction and diarrhea x-linked|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked|Immunodysregulation, polyendocrinopathy and enteropathy X-linked|polyendocrinopathy, immune dysfunction, and diarrhea, X-linked|IPEX|immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome|DMSD|autoimmunity-immunodeficiency syndrome, X-linked|immune dysfunction and diarrhea syndrome|X-linked autoimmunity-allergic dysregulation syndrome|IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked; IPEX|immunodysregulation, polyendocrinopathy, and enteropathy, X-linked|X linked polyendocrinopathy|autoimmune enteropathy type 1|Iddm-secretory diarrhea syndrome|IDDM-secretory diarrhea syndrome|enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy|diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked|IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked|XPID ordo_disease MONDO:0022551 Basedow's coma biolink:Disease mondo GARD:0008177 A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor. http://purl.obolibrary.org/obo/MONDO_0022551 Coma basedovicum|Karl Adolph von Basedow gard_rare MONDO:0022552 Bazopoulou Kyrkanidou syndrome biolink:Disease mondo MESH:C537664|UMLS:C2931580 MESH:C537664|UMLS:C2931580 http://purl.obolibrary.org/obo/MONDO_0022552 MONDO:0022553 BD syndrome biolink:Disease mondo GARD:0000841 http://purl.obolibrary.org/obo/MONDO_0022553 gard_rare MONDO:0022555 Beardwell syndrome biolink:Disease mondo MESH:C537665|UMLS:C2931581 MESH:C537665|UMLS:C2931581 http://purl.obolibrary.org/obo/MONDO_0022555 familial ankylosing vertebral hyperostosis with tylosis MONDO:0022556 oculo-cerebral dysplasia biolink:Disease mondo GARD:0004021 http://purl.obolibrary.org/obo/MONDO_0022556 Behrens Baumann dust syndrome|Behrens-Baumann-Vogel syndrome|unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus|microphthalmia-optic nerve dysplasia gard_rare MONDO:0022557 behrens baumann dust syndrome biolink:Disease mondo MESH:C537670 MESH:C537670 http://purl.obolibrary.org/obo/MONDO_0022557 oculo-cerebral dysplasia MONDO:0010569 X-linked complicated corpus callosum dysgenesis biolink:Disease mondo UMLS:C1839909|ICD10:Q04.8|OMIM:304100|MESH:C564115|GARD:0012526|Orphanet:1497 X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. ORPHA:1497|MESH:C564115|http://identifiers.org/omim/304100|UMLS:C1839909 http://purl.obolibrary.org/obo/MONDO_0010569 corpus callosum, partial agenesis of, X-linked|X-linked partial agenesis of corpus callosum|X-linked complicated corpus callosum agenesis|X-linked partial corpus callosum agenesis ordo_clinical_subtype MONDO:0010568 Aicardi syndrome biolink:Disease mondo Orphanet:50|DOID:8461|OMIM:304050|ICD10:Q04.0|MedDRA:10054935|SCTID:80651009|GARD:0005764|MESH:D058540|NCIT:C35256|UMLS:C0175713 Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females. MESH:D058540|DOID:8461|MEDDRA:10054935|NCIT:C35256|SNOMEDCT:80651009|UMLS:C0175713|http://identifiers.org/omim/304050|ORPHA:50 http://purl.obolibrary.org/obo/MONDO_0010568 Aicardi syndrome; AIC|agenesis of corpus callosum with chorioretinal abnormality|corpus callosum agenesis of with chorioretinal abnormality|Aicardi syndrome|corpus callosum, agenesis of, with chorioretinal Abnormality|AIC gard_rare|ordo_disease MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome biolink:Disease mondo ICD10:Q78.5|Orphanet:2502|GARD:0003566|UMLS:C1855175|OMIM:250420|MESH:C565396 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. http://identifiers.org/omim/250420|ORPHA:2502|UMLS:C1855175|MESH:C565396 http://purl.obolibrary.org/obo/MONDO_0009599 metaphyseal dysostosis intellectual disability conductive deafness|metaphyseal dysostosis, conductive hearing loss and mental retardation|metaphyseal dysostosis, conductive hearing loss and intellectual disability|metaphyseal dysostosis, intellectual disability, and conductive deafness|metaphyseal dysostosis, mental retardation, and conductive deafness|metaphyseal dysostosis mental retardation conductive deafness ordo_malformation_syndrome|gard_rare MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome biolink:Disease mondo UMLS:C1855188|Orphanet:166035|MESH:C565398|OMIM:250410 ORPHA:166035|http://identifiers.org/omim/250410|UMLS:C1855188|MESH:C565398 http://purl.obolibrary.org/obo/MONDO_0009598 retinitis pigmentosa with or without skeletal anomalies; RPSKA|brachydactyly-short stature-retinitis pigmentosa syndrome|retinitis pigmentosa with or without skeletal anomalies|RPSKA|metaphyseal chondrodysplasia with retinitis pigmentosa ordo_disease MONDO:0009597 metaphyseal chondrodysplasia, Spahr type biolink:Disease mondo GARD:0003563|Orphanet:2501|UMLS:C0432225|OMIM:250400|MESH:C537353|SCTID:254084008|ICD10:Q78.5 http://identifiers.org/omim/250400|ORPHA:2501|MESH:C537353|UMLS:C0432225|SNOMEDCT:254084008 http://purl.obolibrary.org/obo/MONDO_0009597 metaphyseal dysplasia, Spahr type; MDST|MDST|metaphyseal dysplasia, Spahr type|metaphyseal chondrodysplasia, Spahr type|Spahr type metaphyseal chondrodysplasia|metaphyseal chondrodysplasia Spahr type ordo_disease MONDO:0009596 metaphyseal chondrodysplasia, Pena type biolink:Disease mondo OMIM:250300|UMLS:C1855195|MESH:C565399 http://identifiers.org/omim/250300|UMLS:C1855195|MESH:C565399 http://purl.obolibrary.org/obo/MONDO_0009596 metaphyseal chondrodysplasia, Pena type MONDO:0009595 cartilage-hair hypoplasia biolink:Disease mondo ICD10:Q78.8|DOID:14773|NCIT:C61245|MESH:C535916|UMLS:C0220748|MedDRA:10069596|SCTID:7720002|Orphanet:175|OMIM:250250|GARD:0006996 Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. http://identifiers.org/omim/250250|SNOMEDCT:7720002|ORPHA:175|DOID:14773|NCIT:C61245|MESH:C535916|MEDDRA:10069596|UMLS:C0220748 http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia|cartilage hair hypoplasia like syndrome|metaphyseal chondrodysplasia McKusick type|metaphyseal chondrodysplasia, McKusick type|autosomal recessive metaphyseal chondrodysplasia|cartilage hair hypoplasia|cartilage-hair hypoplasia; CHH|metaphyseal chondrodysplasia, Mckusick type|CHH|McKusick type metaphyseal chondrodysplasia gard_rare|ordo_disease MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type biolink:Disease mondo Orphanet:166038|UMLS:C1855217|MESH:C565400|OMIM:250230 Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. ORPHA:166038|http://identifiers.org/omim/250230|UMLS:C1855217|MESH:C565400 http://purl.obolibrary.org/obo/MONDO_0009594 metaphyseal chondrodysplasia, Kaitila type ordo_disease MONDO:0010572 occipital horn syndrome biolink:Disease mondo MESH:C537860|ICD10:E83.0|OMIM:304150|SCTID:59399004|GARD:0004017|Orphanet:198 Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. SNOMEDCT:59399004|ORPHA:198|MESH:C537860|http://identifiers.org/omim/304150|UMLS:C0268353 http://purl.obolibrary.org/obo/MONDO_0010572 EDS IX (formerly)|EDS IX|Ehlers-Danlos syndrome, occipital horn type (formerly)|Ehlers-Danlos syndrome, occipital horn type, formerly|Ehlers-Danlos syndrome, occipital horn type|EDS IX, formerly|Ehlers-Danlos syndrome type IX|EDS IX|occipital horn syndrome; OHS|occipital horn syndrome|OHS|X-linked cutis laxa|EDS9, formerly|EDS9|cutis laxa, X-linked, formerly|Ehlers-Danlos syndrome type 9|cutis laxa X-linked|cutis laxa, X-linked ordo_disease ENVO:01001091 formation of a liquid aerosol from gaseous material in an atmosphere biolink:OntologyClass mondo A process during which microscopic liquid droplets are formed from gaseous materials in an atmosphere. http://purl.obolibrary.org/obo/ENVO_01001091 formation of a liquid aerosol in an atmosphere|formation of liquid particles from gaseous material in an atmosphere|atmospheric formation of a liquid aerosol|formation of a liquid aerosol in the atmosphere|formation of liquid droplets from gaseous material in an atmosphere GO:0090316 positive regulation of intracellular protein transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. http://purl.obolibrary.org/obo/GO_0090316 MONDO:0010571 otopalatodigital syndrome type 2 biolink:Disease mondo ICD10:Q87.0|OMIM:304120|GARD:0005802|MESH:C538089|ICD9:759.89|Orphanet:90652|SCTID:42432003 Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. ORPHA:90652|UMLS:C1844696|http://identifiers.org/omim/304120|SNOMEDCT:42432003|MESH:C538089 http://purl.obolibrary.org/obo/MONDO_0010571 OPD syndrome 2|FPO|otopalatodigital syndrome, type 2|OPD2|cranioorodigital syndrome|oto-palato-digital syndrome type 2|otopalatodigital syndrome, type II; OPD2|OPD 2 syndrome|OPD II syndrome|Andre syndrome|cranio-oro-digital syndrome|faciopalatoosseous syndrome|otopalatodigital syndrome, type II ordo_clinical_subtype MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type biolink:Disease mondo ICD10:Q77.8|UMLS:C1855229|MESH:C535798|GARD:0004993|Orphanet:93317|OMIM:250220 Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. http://identifiers.org/omim/250220|UMLS:C1855229|MESH:C535798|ORPHA:93317 http://purl.obolibrary.org/obo/MONDO_0009593 Sedaghatian chondrodysplasia|spondylometaphyseal dysplasia, Sedaghatian type|SMDS|spondylometaphyseal dysplasia, Sedaghatian type; SMDS|metaphyseal chondrodysplasia, congenital lethal|lethal metaphyseal dysplasia|spondylometaphyseal dysplasia Sedaghatian type gard_rare|ordo_malformation_syndrome ENVO:01001090 formation of a solid aerosol from gaseous material in an atmosphere biolink:OntologyClass mondo A process during which microscopic solid particulates are formed from gaseous materials in an atmosphere. http://purl.obolibrary.org/obo/ENVO_01001090 formation of a solid aerosol in the atmosphere|formation of a solid aerosol in an atmosphere|formation of solid particles from gaseous material in an atmosphere|atmospheric formation of a solid aerosol GO:0090317 negative regulation of intracellular protein transport biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells. http://purl.obolibrary.org/obo/GO_0090317 MONDO:0009592 metaphyseal acroscyphodysplasia biolink:Disease mondo GARD:0003519|ICD10:Q78.5|OMIM:250215|MESH:C537350|Orphanet:1240|UMLS:C1855243 Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. http://identifiers.org/omim/250215|MESH:C537350|ORPHA:1240|UMLS:C1855243 http://purl.obolibrary.org/obo/MONDO_0009592 cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly|intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome|Bellini Chiumello Rimoldi syndrome|Bellini syndrome|metaphyseal acroscyphodysplasia|wedge-shaped epiphyses of the knees with mental retardation and short stature|wedge-shaped epiphyses of knees|wedge-shaped epiphyses of the knees with intellectual disability and short stature|wedge-Shaped epiphyses of knees gard_rare|ordo_disease MONDO:0010574 syndromic X-linked intellectual disability 5 biolink:Disease mondo DOID:0060800|OMIM:304340|GARD:0008520|ICD10:Q87.8|Orphanet:1568|NCIT:C124839|ICD10:Q23.8|SCTID:719139003|UMLS:C0796254 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. SNOMEDCT:719139003|ORPHA:1568|http://identifiers.org/omim/304340|DOID:0060800|NCIT:C124839|UMLS:C0796254 http://purl.obolibrary.org/obo/MONDO_0010574 intellectual disability, X-linked 59|MRXS21|X-linked intellectual disability 59|X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures|intellectual disability, X-linked, syndromic 21|mental retardation, X-linked 59|intellectual disability, X-linked, syndromic 5|syndromic X-linked intellectual disability type 5|X-linked mental retardation 59|PGS|intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation, X-linked, syndromic 21|intellectual disability, X-linked, syndromic, fried type|intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures|syndromic X-linked mental retardation 21|syndromic X-linked intellectual disability 21|MRX59|mental retardation X-linked syndromic 5|syndromic X-linked intellectual disability fried type|mental retardation, X-linked, syndromic 5|syndromic X-linked mental retardation fried type|intellectual disability, X-linked syndromic 5|mental retardation, X-linked syndromic 5|fried syndrome|Pettigrew syndrome|mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|PETTIGREW syndrome|mental retardation, X-linked, syndromic, fried type|MRXS5|Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures|X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures|X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome|intellectual disability X-linked syndromic 5|PETTIGREW syndrome; PGS ordo_malformation_syndrome HGNC:11311 SRY biolink:OntologyClass mondo http://identifiers.org/hgnc/11311 MONDO:0009591 metachromatic leukodystrophy, juvenile form biolink:Disease mondo OMIM:250100|SCTID:238031009|Orphanet:309263|GARD:0004545|GARD:0003230|ICD10:E75.2 Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes. http://identifiers.org/omim/250100|SNOMEDCT:238031009|UMLS:C0751276|ORPHA:309263 http://purl.obolibrary.org/obo/MONDO_0009591 ARSA deficiency|metachromatic leukodystrophy, late infantile|arylsulfatase A deficiency|leukodystrophy metachromatic|sulfatide lipidosis|metachromatic leukoencephalopathy|metachromatic leukodystrophy, juvenile|cerebral sclerosis, diffuse, metachromatic form|metachromatic leukodystrophy, adult|cerebroside sulfatase deficiency|metachromatic leukodystrophy|MLD, juvenile form|MLD|cerebral sclerosis diffuse metachromatic form|pseudoarylsulfatase A deficiency|metachromatic leukodystrophy; MLD|Mld|arylsulfatase A deficiency, juvenile form gard_rare|ordo_clinical_subtype MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and mental retardation biolink:Disease mondo GARD:0000578|UMLS:CN237776|Orphanet:79482|MESH:C535610|OMIM:304200 http://identifiers.org/omim/304200|UMLS:CN237776|MESH:C535610|ORPHA:79482 http://purl.obolibrary.org/obo/MONDO_0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability|cutis verticis gyrata, thyroaplasia and mental deficiency syndrome|cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome|Akesson syndrome|cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome|cutis verticis gyrata-thyroid aplasia-mental retardation syndrome|cutis verticis gyrata, thyroid aplasia, and mental retardation MONDO:0010576 X-linked mixed deafness with perilymphatic gusher biolink:Disease mondo Orphanet:383|OMIM:304400|DOID:10003|EFO:1001176|GARD:0004504|GARD:0001694|ICD10:H91.9|ICD9:389.14|UMLS:C1844678|ICD9:389.1|MedDRA:10040016|ICD10:H90.5|ICD9:389.10|ICD10:H90.8 X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss. UMLS:C1844678|ORPHA:383|http://identifiers.org/omim/304400|DOID:10003 http://purl.obolibrary.org/obo/MONDO_0010576 high-frequency hearing loss|perceptive hearing loss or deafness|X-linked mixed conductive and sensorineural deafness|X-linked mixed conductive and neurosensory hearing loss|deafness, X-linked 2|X-linked deafness type 2|DFN3|X-linked mixed conductive and neurosensory deafness|perceptive hearing loss|sensorineural deafness|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear|deafness mixed with perilymphatic gusher|DFN 3 nonsyndromic hearing loss and deafness|perceptive deafness|sensorineural hearing loss|deafness, X-linked type 2|central hearing loss|deafness 3, conductive, with stapes fixation|deafness, mixed, with perilymphatic gusher|deafness mixed with perilymphatic gusher, X-linked|DFNX2|deafness 3 conductive with stapes fixation|deafness, conductive, with stapes fixation|high frequency hearing loss|deafness, X-linked 2; DFNX2|deafness conductive with stapes fixation|X-linked stapes gusher syndrome|gusher syndrome|perilymphatic gusher-deafness syndrome|sensory hearing loss|Nance deafness|high frequency deafness|conductive deafness with stapes fixation|X-linked mixed conductive and sensorineural hearing loss gard_rare|ordo_clinical_subtype MONDO:0009590 metachromatic leukodystrophy due to saposin b deficiency biolink:Disease mondo OMIM:249900|SCTID:68390005|GARD:0010674|MESH:C562609|UMLS:C0268262 SNOMEDCT:68390005|MESH:C562609|http://identifiers.org/omim/249900|UMLS:C0268262 http://purl.obolibrary.org/obo/MONDO_0009590 saposin B deficiency|metachromatic leukodystrophy due to saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency gard_rare MONDO:0010575 deafness-hypogonadism syndrome biolink:Disease mondo MESH:C564435|OMIM:304350|Orphanet:90646|GARD:0001691 This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior. ORPHA:90646|http://identifiers.org/omim/304350|MESH:C564435 http://purl.obolibrary.org/obo/MONDO_0010575 deafness-hypogonadism syndrome|deafness hypogonadism syndrome|deafness-hypogonadism syndrome; DHS|DHS ordo_malformation_syndrome|gard_rare MONDO:0010578 deafness dystonia syndrome biolink:Disease mondo DOID:0050757|ICD10:G31.8|GARD:0008331|UMLS:C0796074|OMIM:304700|MESH:C535808|SCTID:702423009|ICD9:759.89|Orphanet:52368 Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards. DOID:0050757|http://identifiers.org/omim/304700|MESH:C535808|ORPHA:52368|SNOMEDCT:702423009|UMLS:C0796074 http://purl.obolibrary.org/obo/MONDO_0010578 MOHR-Tranebjaerg syndrome; MTS|MTS|deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness dystonia optic neuronopathy syndrome (DDON)|deafness-dystonia-optic neuronopathy syndrome|DDP|DDON syndrome|Mohr-Tranebjaerg syndrome|deafness dystonia optic neuronopathy syndrome|deafness-dystonia-optic neuronopathy (DDON) syndrome|deafness dystonia optic atrophy syndrome|dystonia-deafness syndrome|dystonia deafness syndrome|deafness - dystonia - optic neuronopathy syndrome|deafness-Dystonia-optic atrophy syndrome|MOHR-Tranebjaerg syndrome clingen|ordo_disease MONDO:0010577 deafness, X-linked 1 biolink:Disease mondo MESH:C564433|OMIM:304500|UMLS:C1844677 UMLS:C1844677|http://identifiers.org/omim/304500|MESH:C564433 http://purl.obolibrary.org/obo/MONDO_0010577 deafness, X-linked 2, sensorineural congenital|DFNX1|deafness, X-linked type 1|deafness, X-linked 1; DFNX1|deafness, X-linked 1 MONDO:0010570 craniofrontonasal syndrome biolink:Disease mondo OMIM:304110|SCTID:715421009|DOID:14737|UMLS:C0220767|Orphanet:1520|GARD:0001578|ICD10:Q87.1|MESH:C536456 Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism. ORPHA:1520|MESH:C536456|http://identifiers.org/omim/304110|DOID:14737|SNOMEDCT:715421009|UMLS:C0220767 http://purl.obolibrary.org/obo/MONDO_0010570 craniofrontonasal syndrome|CFNS|craniofrontonasal dysostosis|CFND|craniofrontonasal syndrome; CFNS|craniofrontonasal dysplasia ordo_malformation_syndrome ENVO:01001048 sediment environment biolink:OntologyClass mondo An environmental system which has its properties and dynamics determined by sediment. http://purl.obolibrary.org/obo/ENVO_01001048 ENVO:01001044 soil environment biolink:OntologyClass mondo An environmental system which has its properties and dynamics determined by soil. http://purl.obolibrary.org/obo/ENVO_01001044 ENVO:01001040 saline environment biolink:OntologyClass mondo An environment which is determined by materials which bear significant concentrations of salts. http://purl.obolibrary.org/obo/ENVO_01001040 GO:0090368 regulation of ornithine metabolic process biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. http://purl.obolibrary.org/obo/GO_0090368 HGNC:25928 WDR73 biolink:OntologyClass mondo http://identifiers.org/hgnc/25928 ENVO:01001069 metallic material biolink:OntologyClass mondo A material which is composed primarily of one or more pure metals and which shows their properties. http://purl.obolibrary.org/obo/ENVO_01001069 metal HGNC:25902 POMGNT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25902 HP:0001507 Growth abnormality biolink:PhenotypicFeature mondo UMLS:C0262361 http://purl.obolibrary.org/obo/HP_0001507 Growth issue|Abnormal growth|Growth abnormality HP:0001508 Failure to thrive biolink:PhenotypicFeature mondo UMLS:C2315100|SNOMEDCT_US:36440009|SNOMEDCT_US:432788009|UMLS:C0231246 Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. http://purl.obolibrary.org/obo/HP_0001508 Poor weight gain|Undergrowth|Postnatal failure to thrive|Weight faltering|Faltering weight ENVO:01001068 meteoroid biolink:OntologyClass mondo An astronomical body which is composed of rocky or metallic materials and is considerably smaller than asteroids. http://purl.obolibrary.org/obo/ENVO_01001068 MONDO:0022598 brachydactyly absence of distal phalanges biolink:Disease mondo GARD:0000961 http://purl.obolibrary.org/obo/MONDO_0022598 gard_rare MONDO:0022599 brachydactyly anonychia biolink:Disease mondo GARD:0000962 http://purl.obolibrary.org/obo/MONDO_0022599 gard_rare GO:0090358 positive regulation of tryptophan metabolic process biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. http://purl.obolibrary.org/obo/GO_0090358 positive regulation of tryptophan metabolism HP:0001513 Obesity biolink:PhenotypicFeature mondo SNOMEDCT_US:414915002|SNOMEDCT_US:414916001|MSH:D009765|UMLS:C0028754 Accumulation of substantial excess body fat. http://purl.obolibrary.org/obo/HP_0001513 Obesity|Having too much body fat HP:0001510 Growth delay biolink:PhenotypicFeature mondo UMLS:C0878787|SNOMEDCT_US:276617005|UMLS:C0151686|SNOMEDCT_US:444896005|UMLS:C1837385|UMLS:C0456070|UMLS:C3552463|SNOMEDCT_US:59576002 A deficiency or slowing down of growth pre- and postnatally. http://purl.obolibrary.org/obo/HP_0001510 Growth retardation|Growth delay|Retarded growth|Poor growth|Delayed growth|Growth deficiency|Very poor growth|Growth failure ENVO:01001055 environment associated with an animal part or small animal biolink:OntologyClass mondo An environmental system determined by part of a living or dead animal, or a whole small animal. http://purl.obolibrary.org/obo/ENVO_01001055 ENVO:01001054 non-saline aerosol environment biolink:OntologyClass mondo An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes. http://purl.obolibrary.org/obo/ENVO_01001054 ENVO:01001057 environment associated with a plant part or small plant biolink:OntologyClass mondo An environmental system determined by part of a living or dead plant, or a whole small plant. http://purl.obolibrary.org/obo/ENVO_01001057 GO:0090357 regulation of tryptophan metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. http://purl.obolibrary.org/obo/GO_0090357 regulation of tryptophan metabolism ENVO:01001053 saline aerosol environment biolink:OntologyClass mondo An environmental system which has its properties and dynamics determined by a saline aerosol. http://purl.obolibrary.org/obo/ENVO_01001053 ENVO:01001052 aerosol environment biolink:OntologyClass mondo An environmental system which has its properties and dynamics determined by an aerosol. http://purl.obolibrary.org/obo/ENVO_01001052 UBERON:0018146 transverse process of lumbar vertebra biolink:AnatomicalEntity mondo A transverse process that is part of a lumbar vertebra http://purl.obolibrary.org/obo/UBERON_0018146 costa lumbalis|lumbar transverse process UBERON:0018144 cervical rib biolink:AnatomicalEntity mondo A rib that is attached to a cervical vertebra. http://purl.obolibrary.org/obo/UBERON_0018144 UBERON:0018145 lumbar rib biolink:AnatomicalEntity mondo A rib that is attached to a lumbar vertebra. http://purl.obolibrary.org/obo/UBERON_0018145 MONDO:0009529 pyruvate dehydrogenase E3 deficiency biolink:Disease mondo GARD:0003263|UMLS:CN043137|SCTID:29914000|ICD10:E74.4|OMIM:246900|UMLS:C0268193|Orphanet:2394 Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. ORPHA:2394|http://identifiers.org/omim/246900|UMLS:CN043137|SNOMEDCT:29914000|UMLS:C0268193 http://purl.obolibrary.org/obo/MONDO_0009529 DLDD|lipoamide dehydrogenase deficiency, lactic acidosis due to|dihydrolipoamide dehydrogenase deficiency|maple syrup urine disease, type III|E3-deficient maple syrup urine disease|DLD deficiency|Dld deficiency|dihydrolipoamide dehydrogenase deficiency; DLDD|maple syrup urine disease, type 3|E3 deficiency|dihydrolipoamide dehydrogenase deficiency ordo_clinical_subtype UBERON:0018142 caudal vertebra endochondral element biolink:AnatomicalEntity mondo Any vertebra endochondral element that is part of the caudal region of the vertebral column (tail or coccyx). http://purl.obolibrary.org/obo/UBERON_0018142 coccygeal vertebra element|tail vertebra element|coccyx vertebra element|caudal vertebra element MONDO:0022500 arthrogryposis multiplex congenita CNS calcification biolink:Disease mondo GARD:0000785 A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle. http://purl.obolibrary.org/obo/MONDO_0022500 gard_rare MONDO:0009528 chylomicron retention disease biolink:Disease mondo UMLS:C0795956|ICD10:E78.3|GARD:0009683|SCTID:702364003|DOID:0060357|MESH:C535460|OMIM:246700|Orphanet:71|ICD10:E78.6 Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. http://identifiers.org/omim/246700|UMLS:C0795956|MESH:C535460|DOID:0060357|SNOMEDCT:702364003|ORPHA:71 http://purl.obolibrary.org/obo/MONDO_0009528 CMRD|hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells|hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells|chylomicron retention disease; CMRD|chylomicron retention disease|CRD|Anderson disease|lipid Transport defect of intestine ordo_disease|gard_rare UBERON:0018143 transverse process of cervical vertebra biolink:AnatomicalEntity mondo A transverse process that is part of a cervical vertebra http://purl.obolibrary.org/obo/UBERON_0018143 UBERON:0018140 mammary lobe biolink:AnatomicalEntity mondo A cluster of mammary gland lobules. In humans this is a distinct lobe and located in the breast region. http://purl.obolibrary.org/obo/UBERON_0018140 lobe of mammary gland|lobus glandulae mammariae|lobi glandulae mammariae|lobe of breast|breast lobe MONDO:0009527 lipase deficiency, combined biolink:Disease mondo UMLS:C1855498|OMIM:246650|GARD:0010244|Orphanet:535453|MESH:C535904|NCIT:C126558 A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. http://identifiers.org/omim/246650|UMLS:C1855498|NCIT:C126558|MESH:C535904|ORPHA:535453 http://purl.obolibrary.org/obo/MONDO_0009527 lipase deficiency combined|combined lipase deficiency|LPL and HTGL deficiency|lipase deficiency, combined|lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|LPL and HL deficiency gard_rare|ordo_etiological_subtype MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome biolink:Disease mondo GARD:0002622|OMIM:246570|UMLS:CN776928|UMLS:C1855499|Orphanet:480773 http://identifiers.org/omim/246570|UMLS:C1855499|ORPHA:480773|UMLS:CN776928 http://purl.obolibrary.org/obo/MONDO_0009526 limb deficiency-heart malformation syndrome|FATCO syndrome|fibular aplasia, tibial campomelia, and oligosyndactyly syndrome|terminal transverse defects of the limbs associated with congenital heart malformations|fibular aplasia-tibial campomelia-oligosyndactyly syndrome ordo_malformation_syndrome MONDO:0009525 split hand-foot malformation 3 biolink:Disease mondo MESH:C565437|NCIT:C75121|DOID:0090025|SCTID:722429003|ICD10:Q71.6|Orphanet:1307|OMIM:246560|ICD10:Q92.3|GARD:0003252 The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. http://identifiers.org/omim/246560|ORPHA:1307|NCIT:C75121|MESH:C565437|DOID:0090025|SNOMEDCT:722429003 http://purl.obolibrary.org/obo/MONDO_0009525 split hand-foot malformation type 3|split-hand/foot malformation type 3|chromosome 10Q24 Duplication syndrome|chromosome 10q24 duplication syndrome|10q24 microduplication syndrome|SHFM3|Buttiens-Fryns syndrome|split-hand/foot malformation 3; SHFM3|distal limb deficiencies with micrognathia|Buttiens Fryns syndrome|distal limb deficiencies-micrognathia syndrome|limb deficiencies, distal, with micrognathia|limb deficiencies distal with micrognathia|split-hand/foot malformation 3|Shsf3 gard_rare|ordo_malformation_syndrome MONDO:0010514 combined immunodeficiency due to moesin deficiency biolink:Disease mondo OMIM:300988|UMLS:C4310812|Orphanet:504530 ORPHA:504530|http://identifiers.org/omim/300988|UMLS:C4310812 http://purl.obolibrary.org/obo/MONDO_0010514 immunodeficiency type 50|MSN-related combined immunodeficiency|immunodeficiency 50, X-linked recessive|immunodeficiency 50|Cid due to Moesin deficiency|IMD50|immunodeficiency 50; IMD50|X-linked Moesin-associated immunodeficiency ordo_disease MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome biolink:Disease mondo Orphanet:1891|SCTID:763743003|GARD:0003523|MESH:C537446|OMIM:246555|UMLS:C0796001 Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). http://identifiers.org/omim/246555|MESH:C537446|ORPHA:1891|SNOMEDCT:763743003|UMLS:C0796001 http://purl.obolibrary.org/obo/MONDO_0009524 limb defects, distal transverse, with intellectual disability and spasticity|mental retardation, spasticity and transverse limb defects|mental retardation spasticity ectrodactyly|ectrodactyly, spastic paraplegia and intellectual disability|limb defects, distal transverse, with mental retardation and spasticity|intellectual disability spasticity ectrodactyly|Jancar syndrome|ectrodactyly, spastic paraplegia and mental retardation|intellectual disability, spasticity and transverse limb defects ordo_malformation_syndrome|gard_rare MONDO:0010513 obsolete intellectual disability, X-linked, syndromic, Borck type biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010513 MONDO:0009523 Lichtenstein syndrome biolink:Disease mondo OMIM:246550|SCTID:763668009|Orphanet:2390|GARD:0003248|MESH:C535894|UMLS:C1855502 Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive. http://identifiers.org/omim/246550|ORPHA:2390|SNOMEDCT:763668009|UMLS:C1855502|MESH:C535894 http://purl.obolibrary.org/obo/MONDO_0009523 Lichtenstein syndrome|neutropenia immunoglobulin deficiency peculiar facies and bony anomalies gard_rare|ordo_disease MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis biolink:Disease mondo OMIM:300990|UMLS:C4310810 http://identifiers.org/omim/300990|UMLS:C4310810 http://purl.obolibrary.org/obo/MONDO_0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN|MFHIEN|midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis MONDO:0010515 Meester-Loeys syndrome biolink:Disease mondo OMIM:300989|UMLS:C4310811 http://identifiers.org/omim/300989|UMLS:C4310811 http://purl.obolibrary.org/obo/MONDO_0010515 MRLS|MRLS|Meester-Loeys syndrome|Meester-Loeys syndrome; MRLS MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome biolink:Disease mondo Orphanet:1816|SCTID:239032007|MESH:C565440|UMLS:C1855504|ICD10:Q82.4|OMIM:246500|UMLS:C0406729 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961. SNOMEDCT:239032007|UMLS:C0406729|ORPHA:1816|MESH:C565440|UMLS:C1855504|http://identifiers.org/omim/246500 http://purl.obolibrary.org/obo/MONDO_0009522 ectodermal dysplasia, Berlin type|Berlin syndrome|LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis|LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis ordo_malformation_syndrome MONDO:0010518 Wiskott-Aldrich syndrome biolink:Disease mondo Orphanet:906|MedDRA:10047992|COHD:440982|OMIM:301000|ICD10:D82.0|ICD9:279.12|DOID:9169|GARD:0007895|MESH:D014923|NCIT:C3448|SCTID:36070007|UMLS:C0043194 Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. MESH:D014923|MEDDRA:10047992|ORPHA:906|DOID:9169|SNOMEDCT:36070007|http://identifiers.org/omim/301000|NCIT:C3448|UMLS:C0043194 http://purl.obolibrary.org/obo/MONDO_0010518 Wiskott syndrome|immunodeficiency 2|Imd 2|Wiskott-Aldrich syndrome 1|Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome; was|was|eczema-thrombocytopenia-immunodeficiency syndrome|Wiskott Aldrich syndrome|Aldrich syndrome|eczema thrombocytopenia immunodeficiency syndrome ordo_disease|gard_rare MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer biolink:Disease mondo UMLS:C1855505|MESH:C565441|OMIM:246470 MESH:C565441|UMLS:C1855505|http://identifiers.org/omim/246470 http://purl.obolibrary.org/obo/MONDO_0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked biolink:Disease mondo OMIM:300991|UMLS:C4478372|UMLS:CN240511 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene. UMLS:C4478372|UMLS:CN240511|http://identifiers.org/omim/300991 http://purl.obolibrary.org/obo/MONDO_0010517 ciliary dyskinesia, primary, 36, X-linked|ciliary dyskinesia, primary, 36, with or without situs inversus|PIH1D3 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in PIH1D3|CILD36|ciliary dyskinesia, primary, 36, X-linked; CILD36 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria biolink:Disease mondo SCTID:410059004|OMIM:246450|GARD:0008387|UMLS:C0268601|MESH:C538324|NCIT:C84523|ICD10:E71.1|Orphanet:20|UMLS:C1533587 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae. ORPHA:20|NCIT:C84523|SNOMEDCT:410059004|UMLS:C1533587|UMLS:C0268601|MESH:C538324|http://identifiers.org/omim/246450 http://purl.obolibrary.org/obo/MONDO_0009520 Hydroxymethylglutaric aciduria|HL deficiency|3-hydroxy-3-methylglutaryl-CoA lyase deficiency|HMG CoA lyase deficiency|HMGCLD|defect in leucine metabolism|3-hydroxy-3-methylglutaryl-CoA lyase deficiency; HMGCLD|HMG-CoA lyase deficiency|3-OH 3-Methyl glutaric aciduria|Hmgcl deficiency|deficiency of hydroxymethylglutaryl-CoA lyase|hydroxymethylglutaryl-CoA lyase deficiency|HMG-Coa lyase deficiency ordo_disease MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome biolink:Disease mondo Orphanet:847|NCIT:C118631|SCTID:715342005|GARD:0005864|MESH:C538258|UMLS:C1845055|DOID:0110030|OMIM:301040|ICD10:D56.0 X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. DOID:0110030|ORPHA:847|http://identifiers.org/omim/301040|SNOMEDCT:715342005|UMLS:C1845055|MESH:C538258|NCIT:C118631 http://purl.obolibrary.org/obo/MONDO_0010519 ALPHA-thalassemia/mental retardation syndrome, X-linked; ATRX|Alpha-thalassemia/intellectual disability syndrome, Nondeletion type|ALPHA-thalassemia/mental retardation syndrome, X-linked|ATR, Nondeletion type|ALPHA-thalassemia/intellectual disability syndrome, X-linked; ATRX|ATR-X syndrome|alpha-thalassemia/mental retardation syndrome nondeletion type|ATR, nondeletion type|Alpha thalassemia/mental retardation syndrome X-linked|ATRX|ALPHA-thalassemia/intellectual disability syndrome, X-linked|Alpha thalassemia/intellectual disability syndrome X-linked|alpha-thalassemia/intellectual disability syndrome nondeletion type|Alpha thalassemia X-linked mental retardation syndrome|Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked|XLMR hypotonic face syndrome|Alpha-thalassemia x-linked intellectual disability syndrome|Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked|Alpha thalassemia X-linked intellectual disability syndrome|Alpha-thalassemia/mental retardation syndrome, Nondeletion type|ATRX syndrome|Alpha-thalassemia-X-linked intellectual disability syndrome ordo_disease|do_inheritance_inconsistent|gard_rare UBERON:0018149 angle of oral opening biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0018149 angle of mouth|mouth angle HGNC:2032 CLDN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2032 NCBITaxon:53549 Sabethini organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_53549 HGNC:13902 SERPINB7 biolink:OntologyClass mondo http://identifiers.org/hgnc/13902 MONDO:0010521 amelogenesis imperfecta type 1E biolink:Disease mondo GARD:0009943|OMIM:301200|DOID:0110058|ICD10:K00.5 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene. http://identifiers.org/omim/301200|DOID:0110058 http://purl.obolibrary.org/obo/MONDO_0010521 AIH1|amelogenesis imperfecta, type IE; AI1E|amelogenesis imperfecta caused by mutation in AMELX|amelogenesis imperfecta, X-linked 1|X-linked enamel hypoplasia|AI1E|amelogenesis imperfecta, type IE|enamel hypoplasia, X-linked|amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth|amelogenesis imperfecta hypomaturationtype with snow-capped teeth|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1|amelogenesis imperfecta, type 1E|X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1|amelogenesis imperfecta type IE|amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1|enamel hypoplasia X-linked|amelogenesis imperfecta X-linked 1|X-linked amelogenesis imperfecta 1|AMELX amelogenesis imperfecta gard_rare MONDO:0010520 X-linked Alport syndrome biolink:Disease mondo GARD:0005785|DOID:0110034|SCTID:717768004|OMIM:301050|MedDRA:10001843|ICD10:Q87.8|Orphanet:88917 X-linked form of Alport syndrome. http://identifiers.org/omim/301050|MEDDRA:10001843|ORPHA:88917|SNOMEDCT:717768004|UMLS:C1567742|DOID:0110034 http://purl.obolibrary.org/obo/MONDO_0010520 hemorrhagic familial nephritis|congenital hereditary hematuria|Alport syndrome, X-linked|nephropathy and deafness, X-linked|hemorrhagic hereditary nephritis|ATS|Alport syndrome, X-linked; ATS|nephropathy and deafness, X-linked ordo_etiological_subtype CL:0008007 visceral muscle cell biolink:Cell mondo A muscle cell that is part of some visceral muscle http://purl.obolibrary.org/obo/CL_0008007 MONDO:0010523 X-linked reticulate pigmentary disorder biolink:Disease mondo MESH:C564461|SCTID:717224002|Orphanet:85453|ICD10:L99.0*|OMIM:301220|ICD10:E85.0+ X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. MESH:C564461|SNOMEDCT:717224002|http://identifiers.org/omim/301220|ORPHA:85453 http://purl.obolibrary.org/obo/MONDO_0010523 pigmentary disorder, reticulate, with systemic manifestations; PDR|amyloidosis, familial cutaneous|PDR|pigmentary disorder, reticulate, with systemic manifestations|pigmentary disorder, reticulate, with systemic manifestations, X-linked; PDR|XLPDR|PDR|pigmentary disorder, reticulate, with systemic manifestations, X-linked|Partington disease|familial cutaneous amyloidosis|X-linked cutaneous amyloidosis ordo_disease MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 biolink:Disease mondo GARD:0009944|DOID:0110059|UMLS:C1845051|ICD10:K00.5|OMIM:301201 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. http://identifiers.org/omim/301201|UMLS:C1845051|DOID:0110059 http://purl.obolibrary.org/obo/MONDO_0010522 amelogenesis imperfecta 3, hypoplastic type|AIH3 (formerly)|amelogenesis imperfecta 3 hypoplastic type|X-linked enamel hypoplasia|amelogenesis imperfecta type IE X-linked 2|enamel hypoplasia, X-linked|amelogenesis imperfecta 3, hypoplastic type (formerly)|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2|X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2|amelogenesis imperfecta 3, hypoplastic type, formerly|AIH3 HGNC:2037 CLDN16 biolink:OntologyClass mondo http://identifiers.org/hgnc/2037 HGNC:4699 GYG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4699 HGNC:2035 CLDN14 biolink:OntologyClass mondo http://identifiers.org/hgnc/2035 HGNC:4696 GUSB biolink:OntologyClass mondo http://identifiers.org/hgnc/4696 CL:0008000 non-striated muscle cell biolink:Cell mondo Any muscle cell in which the fibers are not organised into sarcomeres. http://purl.obolibrary.org/obo/CL_0008000 HGNC:2033 CLDN10 biolink:OntologyClass mondo http://identifiers.org/hgnc/2033 CL:0008001 hematopoietic precursor cell biolink:Cell mondo Any hematopoietic cell that is a precursor of some other hematopoietic cell type. http://purl.obolibrary.org/obo/CL_0008001 UBERON:0018135 fibrocollagenous connective tissue biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0018135 UBERON:0018132 tail fat pad biolink:AnatomicalEntity mondo Encapsulated adipose tissue that is part of a tail. http://purl.obolibrary.org/obo/UBERON_0018132 tail fat depot MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features biolink:Disease mondo UMLS:C1855472|OMIM:247640|MESH:C565429 MESH:C565429|UMLS:C1855472|http://identifiers.org/omim/247640 http://purl.obolibrary.org/obo/MONDO_0009539 lymphoblastic leukemia, acute, with lymphomatous features; lall|lymphomatous All|lall|lymphoblastic leukemia, acute, with lymphomatous features MONDO:0009538 lymphoid system deterioration, progressive biolink:Disease mondo OMIM:247630|UMLS:C1855473|MESH:C565430 MESH:C565430|UMLS:C1855473|http://identifiers.org/omim/247630 http://purl.obolibrary.org/obo/MONDO_0009538 lymphoid system deterioration, progressive MONDO:0009537 lymphoid interstitial pneumonia biolink:Disease mondo Orphanet:79128|ICD9:516.8|ICD10:J84.2|DOID:0050159|SCTID:44274007|UMLS:C0264511|MedDRA:10062997|OMIM:247610|ICD10:J84.1|MESH:C562489|NCIT:C27558 Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment. SNOMEDCT:44274007|DOID:0050159|UMLS:C0264511|ORPHA:79128|NCIT:C27558|MEDDRA:10062997|MESH:C562489|http://identifiers.org/omim/247610 http://purl.obolibrary.org/obo/MONDO_0009537 lymphoid interstitial pneumonia; LIP|lymphocytic interstitial pneumonia|diffuse hyperplasia of bronchus-associated lymphoid tissue|LIP|lymphocytic interst. pneumonitis|lymphocytic interstitial pneumonitis|lymphoid interstitial pneumonia ordo_disease MONDO:0010503 Bartter disease type 5 biolink:Disease mondo DOID:0110147|UMLS:C4310820|ICD10:E26.8|OMIM:300971 Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. DOID:0110147|http://identifiers.org/omim/300971|UMLS:C4310820 http://purl.obolibrary.org/obo/MONDO_0010503 Bartter syndrome, type 5, antenatal, transient; BARTS5|MAGED2 Bartter syndrome|Bartter syndrome caused by mutation in MAGED2|Bartter syndrome, type 5, antenatal, transient|BARTS5 MONDO:0009536 chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation biolink:Disease mondo MESH:C565431|OMIM:247450|UMLS:C1855474 UMLS:C1855474|MESH:C565431|http://identifiers.org/omim/247450 http://purl.obolibrary.org/obo/MONDO_0009536 lymphoblastic transformation, intrinsic defect IN|lymphoblastic transformation, intrinsic defect type 1N MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted biolink:Disease mondo OMIM:300968 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene. http://identifiers.org/omim/300968 http://purl.obolibrary.org/obo/MONDO_0010502 intellectual disability, X-linked 99, syndromic, female-restricted; MRXS99F|intellectual disability, X-linked 99, syndromic, female-restricted; MRXS99F|mental retardation, X-linked 99, syndromic, female-restricted|mental retardation, X-linked 99, syndromic, female-restricted; MRXS99F|MRXS99F|USP9X X-linked syndromic intellectual disability|intellectual disability, X-linked 99, syndromic, female-restricted|X-linked syndromic intellectual disability caused by mutation in USP9X MONDO:0009535 lymphedema, congenital recessive biolink:Disease mondo MESH:C565432|OMIM:247440|UMLS:C1855475 MESH:C565432|UMLS:C1855475|http://identifiers.org/omim/247440 http://purl.obolibrary.org/obo/MONDO_0009535 lymphedema, congenital recessive MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation biolink:Disease mondo MESH:C565433|OMIM:247430 MESH:C565433|http://identifiers.org/omim/247430 http://purl.obolibrary.org/obo/MONDO_0009534 lymphoblastic transformation, inhibition of MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome biolink:Disease mondo GARD:0000257|UMLS:C1866985|OMIM:300977|Orphanet:3041|SCTID:722002002|ICD10:Q87.8|OMIM:181515|MESH:C536638 Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. MESH:C536638|SNOMEDCT:722002002|http://identifiers.org/omim/181515|UMLS:C1866985|ORPHA:3041|http://identifiers.org/omim/300977 http://purl.obolibrary.org/obo/MONDO_0010505 Scholte syndrome|SHLTS|Scholte-Begeer-van Essen syndrome|early balding, patella luxation, acromicria and hypogonadism|early balding, patella luxation, acromicria, and hypogonadism|SCHOLTE syndrome; SHLTS ordo_malformation_syndrome MONDO:0009533 Dahlberg-Borer-Newcomer syndrome biolink:Disease mondo GARD:0000237|SCTID:721083007|ICD10:Q87.8|MESH:C535769|Orphanet:1563|OMIM:247410|UMLS:C1855477 Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. ORPHA:1563|UMLS:C1855477|MESH:C535769|SNOMEDCT:721083007|http://identifiers.org/omim/247410 http://purl.obolibrary.org/obo/MONDO_0009533 lymphedema hypoparathyroidism syndrome|hypoparathyroidism-lymphedema syndrome|lymphedema-hypoparathyroidism syndrome|hypoparathyroidism lymphedema syndrome|lymphedema-hypoparathyroidism syndrome|Dahlberg syndrome|Dahlberg Borer Newcomer syndrome gard_rare|ordo_malformation_syndrome MONDO:0010504 immunodeficiency 47 biolink:Disease mondo UMLS:C4310819|OMIM:300972 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene. http://identifiers.org/omim/300972|UMLS:C4310819 http://purl.obolibrary.org/obo/MONDO_0010504 primary immunodeficiency disease caused by mutation in ATP6AP1|immunodeficiency type 47|immunodeficiency 47; IMD47|IMD47|immunodeficiency and hepatopathy with or without neurologic features|immunodeficiency 47|ATP6AP1 primary immunodeficiency disease MONDO:0009532 Miller-Dieker lissencephaly syndrome biolink:Disease mondo SCTID:253148005|MedDRA:10068361|GARD:0003669|ICD9:758.33|OMIM:247200|NCIT:C124852|UMLS:C0265219|DOID:0060469|ICD10:Q04.3|Orphanet:531 A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. MESH:D054221|UMLS:C0265219|SNOMEDCT:253148005|ORPHA:531|DOID:0060469|MEDDRA:10068361|http://identifiers.org/omim/247200|NCIT:C124852 http://purl.obolibrary.org/obo/MONDO_0009532 monosomy 17p13.3|Miller-Dieker syndrome|Miller-Dieker lissencephaly syndrome|telomeric deletion 17p|Miller-Dieker syndrome chromosome region|lissencephaly due to 17p13.3 deletion|MDS|chromosome 17P13.3 deletion syndrome|MDLS|Miller-Dieker lissencephaly syndrome; MDLS ordo_malformation_syndrome MONDO:0010507 Xq25 microduplication syndrome biolink:Disease mondo UMLS:C4311049|Orphanet:521258|OMIM:300979 UMLS:C4311049|ORPHA:521258|http://identifiers.org/omim/300979 http://purl.obolibrary.org/obo/MONDO_0010507 Xq25 triplication syndrome ordo_malformation_syndrome MONDO:0009531 obsolete lip prints biolink:Disease mondo OMIM:247150 http://identifiers.org/omim/247150 http://purl.obolibrary.org/obo/MONDO_0009531 lip prints MONDO:0010506 intellectual disability, X-linked 61 biolink:Disease mondo OMIM:300978|UMLS:C4283894 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene. UMLS:C4283894|http://identifiers.org/omim/300978 http://purl.obolibrary.org/obo/MONDO_0010506 intellectual disability, X-linked 61|mental retardation, X-linked type 61|MRX61|intellectual disability, X-linked 61; MRX61|RLIM non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in RLIM|mental retardation, X-linked 61|intellectual disability, X-linked type 61|mental retardation, X-linked 61; MRX61|intellectual disability, X-linked 61; MRX61 MONDO:0010509 intellectual disability, X-linked 104 biolink:Disease mondo OMIM:300983|UMLS:C4310817 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene. http://identifiers.org/omim/300983|UMLS:C4310817 http://purl.obolibrary.org/obo/MONDO_0010509 intellectual disability, X-linked 104; MRX104|intellectual disability, X-linked type 104|intellectual disability, X-linked 104; MRX104|intellectual disability, X-linked 104|non-syndromic X-linked intellectual disability caused by mutation in FRMPD4|mental retardation, X-linked 104; MRX104|mental retardation, X-linked type 104|mental retardation, X-linked 104|FRMPD4 non-syndromic X-linked intellectual disability|MRX104 MONDO:0009530 lipoid proteinosis biolink:Disease mondo ICD10:E78.8|NCIT:C84829|UMLS:C0023795|OMIM:247100|GARD:0003268|SCTID:38692000|ICD9:272.8|DOID:14498|Orphanet:530|MESH:D008065 Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. ORPHA:530|DOID:14498|SNOMEDCT:38692000|UMLS:C0023795|http://identifiers.org/omim/247100|NCIT:C84829|MESH:D008065 http://purl.obolibrary.org/obo/MONDO_0009530 hyalinosis cutis Et mucosae|lipoid proteinosis of Urbach and Wiethe|lipoproteinosis|lipoid proteinosis|hyalinosis cutis et mucosae|Urbach-Wiethe disease|lipid proteinosis|Urbach Wiethe disease ordo_malformation_syndrome MONDO:0010508 intellectual disability, X-linked 103 biolink:Disease mondo OMIM:300982|UMLS:C4310818 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene. UMLS:C4310818|http://identifiers.org/omim/300982 http://purl.obolibrary.org/obo/MONDO_0010508 KLHL15 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 103|intellectual disability, X-linked 103; MRX103|intellectual disability, X-linked 103; MRX103|intellectual disability, X-linked 103|mental retardation, X-linked 103; MRX103|mental retardation, X-linked type 103|mental retardation, X-linked 103|non-syndromic X-linked intellectual disability caused by mutation in KLHL15|MRX103 HGNC:2040 CLDN19 biolink:OntologyClass mondo http://identifiers.org/hgnc/2040 MONDO:0010510 intellectual disability, X-linked 105 biolink:Disease mondo UMLS:C4310816|OMIM:300984 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene. http://identifiers.org/omim/300984|UMLS:C4310816 http://purl.obolibrary.org/obo/MONDO_0010510 non-syndromic X-linked intellectual disability caused by mutation in USP27X|mental retardation, X-linked type 105|intellectual disability, X-linked 105|mental retardation, X-linked 105|intellectual disability, X-linked 105; MRX105|USP27X non-syndromic X-linked intellectual disability|MRX105|intellectual disability, X-linked 105; MRX105|mental retardation, X-linked 105; MRX105|intellectual disability, X-linked type 105 CL:0008019 mesenchymal cell biolink:Cell mondo A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. http://purl.obolibrary.org/obo/CL_0008019 mesenchyme cell MONDO:0010512 intellectual disability, X-linked, syndromic, bain type biolink:Disease mondo UMLS:C4310814|OMIM:300986 http://identifiers.org/omim/300986|UMLS:C4310814 http://purl.obolibrary.org/obo/MONDO_0010512 intellectual disability, X-linked, syndromic, bain type|mental retardation, X-linked, syndromic, bain type; MRXSB|intellectual disability, X-linked, syndromic, bain type; MRXSB|intellectual disability, X-linked, syndromic, bain type; MRXSB|MRXSB|mental retardation, X-linked, syndromic, bain type MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked biolink:Disease mondo UMLS:C4310815|OMIM:300985 http://identifiers.org/omim/300985|UMLS:C4310815 http://purl.obolibrary.org/obo/MONDO_0010511 CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked NCBITaxon:53551 Sabethes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_53551 NCBITaxon:53550 Culicini organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_53550 MONDO:0009509 Landau-Kleffner syndrome biolink:Disease mondo DOID:2538|SCTID:230438007|UMLS:C0282512|Orphanet:98818|MedDRA:10052075|OMIM:245570|ICD10:G40.8|NCIT:C84806|MedDRA:10052083|GARD:0006855|MESH:D018887|EFO:1001010 Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS. MESH:D018887|NCIT:C84806|MEDDRA:10052075|http://identifiers.org/omim/245570|UMLS:C0282512|ORPHA:98818|SNOMEDCT:230438007|DOID:2538 http://purl.obolibrary.org/obo/MONDO_0009509 Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant|aphasia, acquired, with epilepsy|epilepsy, focal, with speech disorder and with or without mental retardation; FESD|epilepsy, focal, with speech disorder and with or without intellectual disability|continuous Spike and waves during slow-Wave sleep syndrome|FESD|benign epilepsy of childhood with centrotemporal spikes|epilepsy, focal, with speech disorder and with or without intellectual disability; FESD|acquired epileptic aphasia|acquired epileptiform aphasia|epilepsy, focal, with speech disorder and with or without mental retardation|acquired aphasia with convulsive disorder|Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant|LKS|Landau-Kleffner syndrome gard_rare|ordo_disease NCBITaxon:186938 Respirovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186938 MONDO:0009508 Lambotte syndrome biolink:Disease mondo OMIM:245552|MESH:C537549|GARD:0008470|UMLS:C1855550 http://identifiers.org/omim/245552|MESH:C537549|UMLS:C1855550 http://purl.obolibrary.org/obo/MONDO_0009508 microcephaly, holoprosencephaly, and intrauterine Growth retardation|Lambotte syndrome MONDO:0009507 Lambert syndrome biolink:Disease mondo Orphanet:1296|OMIM:245550|SCTID:732961003|UMLS:C1855551|ICD10:Q87.8|GARD:0003169|MESH:C538396 Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. MESH:C538396|ORPHA:1296|SNOMEDCT:732961003|http://identifiers.org/omim/245550|UMLS:C1855551 http://purl.obolibrary.org/obo/MONDO_0009507 branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia|branchial dysplasia clubfoot inguinal hernia and biliary atresia|Lambert syndrome|branchial dysplasia-intellectual disability-inguinal hernia syndrome gard_rare|ordo_malformation_syndrome MONDO:0009506 specific granule deficiency biolink:Disease mondo ICD10:D71|OMIMPS:245480|Orphanet:169142|MESH:C562873|GARD:0010778|SCTID:234587000|UMLS:C0398593 MESH:C562873|UMLS:C0398593|ORPHA:169142|SNOMEDCT:234587000 http://purl.obolibrary.org/obo/MONDO_0009506 neutrophil-specific granule deficiency|specific granule deficiency; SGD|SGD|recurrent infection due to specific granule deficiency|lactoferrin-deficient neutrophils|specific granule deficiency|neutrophil lactoferrin deficiency ordo_disease MONDO:0009505 lactic aciduria due to D-lactic acid biolink:Disease mondo UMLS:C1855552|MESH:C565446|OMIM:245450 http://identifiers.org/omim/245450|MESH:C565446|UMLS:C1855552 http://purl.obolibrary.org/obo/MONDO_0009505 lactic aciduria due to d-lactic acid MONDO:0009504 mitochondrial DNA depletion syndrome 9 biolink:Disease mondo MESH:C538134|GARD:0003163|DOID:0080128|ICD10:E71.1|MESH:C566885|OMIM:245400|Orphanet:17|SCTID:715338007 Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. MESH:C538134|DOID:0080128|http://identifiers.org/omim/245400|MESH:C566885|SNOMEDCT:715338007|ORPHA:17 http://purl.obolibrary.org/obo/MONDO_0009504 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)|lactic acidosis, fatal infantile, formerly|lactic acidosis, fatal infantile|lactic acidosis congenital infantile|succinate-CoA ligase deficiency|MTDPS9|mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria); MTDPS9|mitochondrial DNA depletion syndrome type 9|SUCLG1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome caused by mutation in SUCLG1|fatal infantile lactic acidosis with methylmalonic aciduria gard_rare|ordo_disease MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency biolink:Disease mondo ICD10:E74.4|UMLS:C1855553|OMIM:245349|Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction. ORPHA:255182|http://identifiers.org/omim/245349|UMLS:C1855553 http://purl.obolibrary.org/obo/MONDO_0009503 dihydrolipoyl dehydrogenase deficiency|diaphorase deficiency|pyruvate dehydrogenase E3-binding PROTEIN deficiency; PDHXD|Glycine cleavage system L protein deficiency|PDHXD|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase protein X component deficiency|2-oxoglutarate complex deficiency|lipoamide dehydrogenase deficiency|lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex|pyruvate dehydrogenase E3-binding protein deficiency|pyruvate dehydrogenase complex component E3 deficiency ordo_clinical_subtype MONDO:0009502 pyruvate dehydrogenase E2 deficiency biolink:Disease mondo MESH:C565448|ICD10:E74.4|UMLS:C1855565|Orphanet:79244|OMIM:245348 Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. http://identifiers.org/omim/245348|MESH:C565448|UMLS:C1855565|ORPHA:79244 http://purl.obolibrary.org/obo/MONDO_0009502 pyruvate dehydrogenase E2 deficiency|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|PDHDD|pyruvate dehydrogenase E2 deficiency; PDHDD|pyruvate dehydrogenase complex component E2 deficiency|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency|lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex ordo_clinical_subtype MONDO:0009501 metabolic myopathy due to lactate transporter defect biolink:Disease mondo MESH:C565449|OMIM:245340|ICD10:G72.8|UMLS:C1855577|SCTID:766715000|Orphanet:171690 Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. ORPHA:171690|http://identifiers.org/omim/245340|MESH:C565449|UMLS:C1855577|SNOMEDCT:766715000 http://purl.obolibrary.org/obo/MONDO_0009501 erythrocyte lactate transporter defect|lactate transporter defect, myopathy due to ordo_disease MONDO:0009500 kuru, susceptibility to biolink:Disease mondo UMLS:C1855588|OMIM:245300 http://identifiers.org/omim/245300|UMLS:C1855588 http://purl.obolibrary.org/obo/MONDO_0009500 susceptibility to kuru|kuru, susceptibility to predisposition NCBITaxon:28568 Trichocomaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_28568 Eurotiaceae MONDO:0010501 syndromic X-linked intellectual disability 34 biolink:Disease mondo DOID:0060817|Orphanet:466791|OMIM:300967 Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. DOID:0060817|http://identifiers.org/omim/300967|ORPHA:466791 http://purl.obolibrary.org/obo/MONDO_0010501 mental retardation, X-linked, syndromic, Mircsof-Langouet type|mental retardation, X-linked, syndromic 34|intellectual disability, X-linked, syndromic type 34|macrocephaly-intellectual disability-left ventricular non compaction syndrome|intellectual disability, X-linked, syndromic 34; MRXS34|MRXSML|MRXS34|intellectual disability, X-linked, syndromic, Mircsof-Langouet type|syndromic X-linked intellectual disability Mircsof-Langouet type|syndromic X-linked intellectual disability type 34|NONO X-linked syndromic intellectual disability|mental retardation, X-linked, syndromic 34; MRXS34|intellectual disability, X-linked, syndromic 34|X-linked syndromic intellectual disability caused by mutation in NONO|mental retardation, X-linked, syndromic type 34|syndromic X-linked mental retardation Mircsof-Langouet type ordo_malformation_syndrome MONDO:0010500 intellectual disability, X-linked, syndromic 33 biolink:Disease mondo OMIM:300966|UMLS:C4225418 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene. UMLS:C4225418|http://identifiers.org/omim/300966 http://purl.obolibrary.org/obo/MONDO_0010500 mental retardation, X-linked, syndromic 33|mental retardation, X-linked, syndromic 33; MRXS33|TAF1 X-linked syndromic intellectual disability|intellectual disability, X-linked, syndromic type 33|intellectual disability, X-linked, syndromic 33|intellectual disability, X-linked, syndromic 33; MRXS33|X-linked syndromic intellectual disability caused by mutation in TAF1|MRXS33|mental retardation, X-linked, syndromic type 33 CHEBI:5386 globin biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_5386 globins|Globin|pentacoordinate globin UBERON:0018111 muscle layer of rectum biolink:AnatomicalEntity mondo A muscle layer that is part of the rectum http://purl.obolibrary.org/obo/UBERON_0018111 rectal muscularis propria|muscularis externa of rectum|tunica muscularis (rectum)|tunica muscularis recti|muscular coat of rectum UBERON:0018112 rectum smooth muscle tissue biolink:AnatomicalEntity mondo Any portion of smooth muscle tissue that is part of the rectum http://purl.obolibrary.org/obo/UBERON_0018112 rectal smooth muscle tissue|rectum smooth muscle|smooth muscle of rectum MONDO:0009519 letterer-Siwe disease biolink:Disease mondo ICDO:9754/3|OMIM:246400|ICD10:C96.0|Orphanet:99870|MedDRA:10024265|NCIT:C3160|UMLS:C0023381 A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. NCIT:C3160|MEDDRA:10024265|http://identifiers.org/omim/246400|MESH:C538636|ORPHA:99870|UMLS:C0023381 http://purl.obolibrary.org/obo/MONDO_0009519 histiocytosis X, acute disseminated|L-S disease|multifocal multisystem Langerhans cell histiocytosis|acute disseminated Langerhans cell histiocytosis|letterer-Siwe disease|acute and disseminated Langerhans cell histiocytosis ordo_disease MONDO:0009518 leprosy, susceptibility to, 3 biolink:Disease mondo OMIM:246300 Any leprosy in which the cause of the disease is a mutation in the TLR2 gene. http://identifiers.org/omim/246300 http://purl.obolibrary.org/obo/MONDO_0009518 LPRS3|leprosy caused by mutation in TLR2|susceptibility to leprosy 3|leprosy, susceptibility to, 3; LPRS3|leprosy, susceptibility to, 3|leprosy, susceptibility to, type 3|TLR2 leprosy predisposition MONDO:0009517 Donohue syndrome biolink:Disease mondo NCIT:C84676|GARD:0006885|MESH:D056731|ICD10:E34.8|ICD9:259.8|OMIM:246200|Orphanet:508|UMLS:C0265344|SCTID:111307005|DOID:0050470 Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation. NCIT:C84676|http://identifiers.org/omim/246200|SNOMEDCT:111307005|MESH:D056731|UMLS:C0265344|DOID:0050470|ORPHA:508 http://purl.obolibrary.org/obo/MONDO_0009517 insulin receptor, defect 1N|Donohue syndrome|leprechaunism ordo_malformation_syndrome MONDO:0009516 absence deformity of leg-cataract syndrome biolink:Disease mondo OMIM:246000|UMLS:C1855523|MESH:C565442|Orphanet:2310 Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. http://identifiers.org/omim/246000|ORPHA:2310|MESH:C565442|UMLS:C1855523 http://purl.obolibrary.org/obo/MONDO_0009516 leg, absence deformity of, with congenital cataract ordo_malformation_syndrome MONDO:0009515 Norum disease biolink:Disease mondo OMIM:245900|GARD:0004011|Orphanet:79293|SCTID:238091006|UMLS:CN205883|NCIT:C84813|ICD10:E78.6|DOID:1391 Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. NCIT:C84813|SNOMEDCT:238091006|http://identifiers.org/omim/245900|ORPHA:79293|DOID:1391|UMLS:CN205883 http://purl.obolibrary.org/obo/MONDO_0009515 lecithin:cholesterol acyltransferase deficiency|familial LCAT deficiency|lecithin acyltransferase deficiency|complete LCAT deficiency|LCAT deficiency|FLD|Norum disease ordo_clinical_subtype MONDO:0009514 Laurence-Moon syndrome biolink:Disease mondo ICD9:253.4|UMLS:C0023138|SCTID:232059000|GARD:0012635|DOID:1930|OMIM:245800|MESH:D007849|Orphanet:2377|ICD10:Q87.8|NCIT:C34760|MedDRA:10056710 Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. ORPHA:2377|http://identifiers.org/omim/245800|NCIT:C34760|SNOMEDCT:232059000|UMLS:C0023138|MESH:D007849|MEDDRA:10056710|DOID:1930 http://purl.obolibrary.org/obo/MONDO_0009514 Laurence-Moon syndrome|Laurence-MOON syndrome; LNMS|Laurence-Moon-Biedl syndrome|LNMS ordo_malformation_syndrome|gard_rare MONDO:0009513 laryngo-onycho-cutaneous syndrome biolink:Disease mondo UMLS:C1328355|OMIM:245660|SCTID:722675000|Orphanet:2407|ICD10:Q81.8|GARD:0000368|MESH:C537032 LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. ORPHA:2407|MESH:C537032|UMLS:C1328355|http://identifiers.org/omim/245660|SNOMEDCT:722675000 http://purl.obolibrary.org/obo/MONDO_0009513 LARYNGOONYCHOCUTANEOUS syndrome; LOCS|Shabbir syndrome|laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome|LOCS|laryngo-onycho-cutaneous syndrome|logic syndrome|LARYNGOONYCHOCUTANEOUS syndrome|LOC syndrome ordo_disease MONDO:0009512 lethal Larsen-like syndrome biolink:Disease mondo SCTID:719409004|OMIM:245650|GARD:0003181|UMLS:C4304741|Orphanet:2371|ICD10:Q74.8|MESH:C537872|UMLS:C1855535 Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out. ORPHA:2371|http://identifiers.org/omim/245650|MESH:C537872|SNOMEDCT:719409004|UMLS:C4304741|UMLS:C1855535 http://purl.obolibrary.org/obo/MONDO_0009512 Larsen-like multiple joint dislocation syndrome|Larsen-like syndrome, lethal type ordo_malformation_syndrome MONDO:0009511 Larsen-like syndrome, B3GAT3 type biolink:Disease mondo ICD10:Q74.8|MESH:C537874|Orphanet:284139|OMIM:245600 Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. ORPHA:284139|http://identifiers.org/omim/245600|MESH:C537874 http://purl.obolibrary.org/obo/MONDO_0009511 multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects|Larsen syndrome, autosomal recessive, formerly|Larsen syndrome, autosomal recessive|multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects|multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects; JDSCD|JDSCD|multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome ordo_malformation_syndrome MONDO:0009510 obsolete Laron syndrome with immunodeficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009510 NCBITaxon:28556 Pleosporaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_28556 Pyrenophoraceae UBERON:0018115 left renal pelvis biolink:AnatomicalEntity mondo A renal pelvis that is part of a left ureter. http://purl.obolibrary.org/obo/UBERON_0018115 pelvis of left ureter|renal pelvis of left kidney UBERON:0018116 right renal pelvis biolink:AnatomicalEntity mondo A renal pelvis that is part of a right ureter. http://purl.obolibrary.org/obo/UBERON_0018116 pelvis of right kidney|pelvis of right ureter UBERON:0006135 myelinated nerve fiber biolink:AnatomicalEntity mondo Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) http://purl.obolibrary.org/obo/UBERON_0006135 UBERON:0006134 nerve fiber biolink:AnatomicalEntity mondo A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. http://purl.obolibrary.org/obo/UBERON_0006134 neurofibra|neurofibra|nerve fibre|nerve fibers|neurofibrum UBERON:0006133 funiculus of neuraxis biolink:AnatomicalEntity mondo The cerebrospinal nerves consist of numerous nerve fibers collected together and enclosed in membranous sheaths. A small bundle of fibers, enclosed in a tubular sheath, is called a funiculus; if the nerve is of small size, it may consist only of a single funiculus; but if large, the funiculi are collected together into larger bundles or fasciculi, which are bound together in a common membranous investment. Examples include: Anterior funiculus of the spinal cord Lateral funiculus of the spinal cord Posterior funiculus of the spinal cord Funiculus solitarius of the medulla Funiculus separans http://purl.obolibrary.org/obo/UBERON_0006133 HGNC:2063 CLIC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2063 GO:2000531 obsolete regulation of fatty acid biosynthetic process by regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of the biosynthesis of fatty acids, by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_2000531 UBERON:0006136 unmyelinated nerve fiber biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006136 non-myelinated nerve fiber MONDO:0022545 Barnicoat Baraitser syndrome biolink:Disease mondo GARD:0000825 http://purl.obolibrary.org/obo/MONDO_0022545 polysyndactyly overgrowth syndrome|Barnicoat-Baraitser syndrome gard_rare MONDO:0022546 basal cell nevus anodontia abnormal bone mineralization biolink:Disease mondo GARD:0000831 http://purl.obolibrary.org/obo/MONDO_0022546 gard_rare MONDO:0009569 Hennekam-Beemer syndrome biolink:Disease mondo Orphanet:2135|SCTID:722453009|UMLS:CN201032|MESH:C536033|GARD:0003409|OMIM:248910|ICD10:Q82.2 Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive. SNOMEDCT:722453009|http://identifiers.org/omim/248910|ORPHA:2135|UMLS:CN201032|MESH:C536033 http://purl.obolibrary.org/obo/MONDO_0009569 skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation|mastocytosis cutaneous with short stature conductive hearing loss and microtia|Hennekam Beemer syndrome|cutaneous mastocytosis, conductive hearing loss and microtia|mastocytosis-short stature-hearing loss syndrome|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability ordo_malformation_syndrome|gard_rare MONDO:0010558 choroideremia-deafness-obesity syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C1844836|MESH:C537793|OMIM:303110|Orphanet:1435|SCTID:717761005|GARD:0000369 Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. SNOMEDCT:717761005|ORPHA:1435|UMLS:C1844836|MESH:C537793|http://identifiers.org/omim/303110 http://purl.obolibrary.org/obo/MONDO_0010558 choroideremia, obesity, and congenital deafness|Ayazi syndrome|choroideremia, deafness, and mental retardation|choroideremia deafness obesity|chromosome Xq21 deletion syndrome|choroideremia, deafness, and intellectual disability ordo_malformation_syndrome MONDO:0010557 choroideremia biolink:Disease mondo NCIT:C34469|MedDRA:10008791|UMLS:C0008525|ICD10:H31.21|MESH:D015794|GARD:0006061|OMIM:303100|SCTID:75241009|ICD9:363.55|Orphanet:180|DOID:9821|ICD10:H31.2 Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. DOID:9821|MEDDRA:10008791|MESH:D015794|NCIT:C34469|ORPHA:180|UMLS:C0008525|SNOMEDCT:75241009|http://identifiers.org/omim/303100 http://purl.obolibrary.org/obo/MONDO_0010557 progressive choroidal atrophy|choroideremia|Tapetochoroidal dystrophy, progressive|TCD|progressive tapetochoroidal dystrophy|choroidal sclerosis|choroideremia; CHM|CHM|Tapetochoroidal dystrophy ordo_disease|gard_rare MONDO:0009568 mast syndrome biolink:Disease mondo OMIM:248900|MESH:C565409|UMLS:C1855346|Orphanet:101001|ICD10:G11.4|SCTID:764734003|DOID:0060245 Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. DOID:0060245|ORPHA:101001|http://identifiers.org/omim/248900|SNOMEDCT:764734003|UMLS:C1855346|MESH:C565409 http://purl.obolibrary.org/obo/MONDO_0009568 hereditary spastic paraplegia 21|SPG21|Mast syndrome|autosomal recessive spastic paraplegia type 21|spastic paraplegia 21, autosomal recessive|autosomal recessive spastic paraplegia 21|mast syndrome ordo_disease MONDO:0009567 Marinesco-Sjogren syndrome biolink:Disease mondo ICD10:G11.1|UMLS:C0024814|DOID:0080195|ICD9:742.4|SCTID:80734006|OMIM:248800|Orphanet:559|GARD:0008341 Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. UMLS:C0024814|SNOMEDCT:80734006|http://identifiers.org/omim/248800|DOID:0080195|ORPHA:559 http://purl.obolibrary.org/obo/MONDO_0009567 Marinesco-Sjogren syndrome-myopathy|hereditary oligophrenic cerebello-lental degeneration|oligophrenic cerebellolenticular degeneration|Marinesco-Sjogren syndrome|Marinesco-Sjogren syndrome; MSS|Marinesco-Sjögren syndrome|Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism|MSS|Marinesco-Sjogren-Garland syndrome|Garland-Moorhouse syndrome|Marinesco-Garland syndrome ordo_disease MONDO:0010559 MASA syndrome biolink:Disease mondo GARD:0006986|UMLS:C0795953|OMIM:303350|NCIT:C129930|Orphanet:2466|DOID:0060246|ICD10:G11.4|SCTID:716996008 MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. ORPHA:2466|MESH:C536029|SNOMEDCT:716996008|UMLS:C0795953|NCIT:C129930|http://identifiers.org/omim/303350|DOID:0060246 http://purl.obolibrary.org/obo/MONDO_0010559 Clasped thumb and intellectual disability|thumb congenital clasped with intellectual disability|Gareis-Mason syndrome|adducted thumb with mental retardation|thumb, congenital Clasped, with mental retardation|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|spastic paraplegia 1, X-linked|crash syndrome|X-linked spastic paraplegia 1|adducted thumb with intellectual disability|thumb, congenital Clasped, with intellectual disability|spastic paraplegia, X-linked|thumb congenital clasped with mental retardation|Clasped thumb and mental retardation|intellectual disability, aphasia, shuffling Gait, and adducted thumbs|X-linked corpus callosum agenesis|mental retardation aphasia shuffling Gait adducted thumbs (MASA)|spastic paraplegia 1|X-linked complicated hereditary spastic paraplegia type 1|MASA syndrome|L1 syndrome|intellectual disability aphasia shuffling Gait adducted thumbs (MASA)|mental retardation, aphasia, shuffling Gait, and adducted thumbs|SPG1|hereditary spastic paraplegia 1 ordo_clinical_subtype MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome biolink:Disease mondo GARD:0003388|Orphanet:2463|OMIM:248770|MESH:C565410|ICD10:Q87.8|UMLS:C1855347 Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit. http://identifiers.org/omim/248770|UMLS:C0268364|ORPHA:2463|MESH:C565410|UMLS:C1855347 http://purl.obolibrary.org/obo/MONDO_0009566 MARFANOID mental retardation syndrome, autosomal|Marfanoid intellectual disability syndrome autosomal|MARFANOID intellectual disability syndrome, autosomal|Marfanoid mental retardation syndrome autosomal ordo_malformation_syndrome MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome biolink:Disease mondo ICD10:Q87.8|OMIM:248760|GARD:0003615|Orphanet:2172|UMLS:C1855348|MESH:C565411 This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. http://identifiers.org/omim/248760|ORPHA:2172|MESH:C565411|UMLS:C1855348 http://purl.obolibrary.org/obo/MONDO_0009565 microcephaly glomerulonephritis Marfanoid habitus|MARFANOID habitus with microcephaly and glomerulonephritis gard_rare|ordo_malformation_syndrome MONDO:0009564 Marden-Walker syndrome biolink:Disease mondo ICD10:Q87.0|ICD9:759.89|OMIM:248700|GARD:0006973|MESH:C535910|SCTID:449824004|Orphanet:2461 Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. MESH:C535910|http://identifiers.org/omim/248700|UMLS:C0796033|ORPHA:2461|SNOMEDCT:449824004 http://purl.obolibrary.org/obo/MONDO_0009564 MWKS|MARDEN-WALKER syndrome; MWKS|connective tissue disorder Marden Walker type|Marden-Walker syndrome|Mws ordo_malformation_syndrome MONDO:0009563 maple syrup urine disease biolink:Disease mondo MedDRA:10026817|Orphanet:511|MESH:D008375|DOID:9269|ICD10:E71.0|GARD:0003228|OMIMPS:248600|OMIM:248600|NCIT:C34806|UMLS:C0024776|SCTID:27718001 An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. DOID:9269|http://identifiers.org/omim/248600|UMLS:C0268576|MEDDRA:10026817|ORPHA:511|MESH:D008375|NCIT:C34806|SNOMEDCT:27718001|UMLS:C0024776 http://purl.obolibrary.org/obo/MONDO_0009563 BCKDH deficiency|maple syrup urine disease, type 2|maple syrup urine disease; MSUD|dihydrolipoamide dehydrogenase deficiency|maple syrup urine disease, thiamine-responsive|maple syrup urine disease, classic|maple syrup urine disease, intermittent|maple syrup urine disease, type 1B|maple syrup urine disease, type 1A|branched chain ketoaciduria|branched-chain ketoaciduria|Ketoacidaemia|branched-chain 2-ketoacid dehydrogenase deficiency|maple syrup urine disease|BCKD deficiency|branched-chain Alpha-Keto acid dehydrogenase deficiency|Keto acid decarboxylase deficiency|MSUD|maple syrup urine disease, Intermediate ordo_disease|prototype_pattern MONDO:0009562 beta-mannosidosis biolink:Disease mondo Orphanet:118|OMIM:248510|MESH:D044905|UMLS:C4048196|ICD9:271.8|GARD:0000869|DOID:3633|SCTID:238047006|NCIT:C84596|ICD10:E77.1 Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. UMLS:C4048196|http://identifiers.org/omim/248510|NCIT:C84596|SNOMEDCT:238047006|MESH:D044905|ORPHA:118|UMLS:C0342849|DOID:3633 http://purl.obolibrary.org/obo/MONDO_0009562 mannosidosis, BETA A, lysosomal|beta-mannosidosis|lysosomal beta-mannosidase deficiency|mannosidosis, BETA A, lysosomal; MANSB|Beta-mannosidase deficiency|Beta-D-mannosidosis|beta-mannosidase deficiency|MANSB|lysosomal Beta-mannosidase deficiency ordo_disease MONDO:0009561 alpha-mannosidosis biolink:Disease mondo OMIM:248500|SCTID:65524005|ICD9:271.8|NCIT:C84548|MESH:D008363|GARD:0006968|DOID:3413|Orphanet:61|UMLS:C0024748|ICD10:E77.1 Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. ORPHA:61|http://identifiers.org/omim/248500|NCIT:C84548|MESH:D008363|SNOMEDCT:65524005|DOID:3413|UMLS:C0024748 http://purl.obolibrary.org/obo/MONDO_0009561 alpha-mannosidosis|deficiency of alpha-mannosidase|mannosidosis, ALPHA B, lysosomal; MANSA|mannosidosis, ALPHA B, lysosomal|Alpha-D-mannosidosis|mannosidosis, alpha B lysosomal|lysosomal Alpha-D-mannosidase deficiency|alpha-mannosidase deficiency|lysosomal alpha-D-mannosidase deficiency|MANSA|Alpha mannosidase B deficiency|Alpha-mannosidase B deficiency ordo_disease|gard_rare MONDO:0010561 Coffin-Lowry syndrome biolink:Disease mondo ICD10:Q87.0|SCTID:15182000|UMLS:C0265252|MESH:C536435|NCIT:C84643|DOID:3783|GARD:0008589|ICD9:759.89|Orphanet:192|GARD:0006123|MESH:D038921|OMIM:303600 Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes. ORPHA:192|UMLS:C0265252|MESH:D038921|MESH:C536435|SNOMEDCT:15182000|DOID:3783|http://identifiers.org/omim/303600|NCIT:C84643 http://purl.obolibrary.org/obo/MONDO_0010561 dwarfism, lean spastic type|Coffin syndrome|Coffin syndrome 1|lean spastic dwarfism|intellectual disability with osteocartilaginous abnormalities|COFFIN-Lowry syndrome; CLS|CLS|Coffin-Lowry syndrome|mental retardation with osteocartilaginous abnormalities ordo_malformation_syndrome|gard_rare MONDO:0010560 cleft palate with or without ankyloglossia, X-linked biolink:Disease mondo SCTID:766761000|DOID:0060613|OMIM:303400|ICD10:Q35.9|MESH:C536426|GARD:0001394|Orphanet:324601 X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. MESH:C536426|SNOMEDCT:766761000|http://identifiers.org/omim/303400|DOID:0060613|ORPHA:324601 http://purl.obolibrary.org/obo/MONDO_0010560 X-linked cleft palate and ankyloglossia|X-linked cleft palate|cleft palate X-linked|CPX|cleft palate with or without ankyloglossia, X-linked|cleft palate, X-linked|cleft palate with or without ankyloglossia, X-linked; CPX ordo_malformation_syndrome|gard_rare MONDO:0009560 oculotrichoanal syndrome biolink:Disease mondo ICD9:759.89|MESH:C536022|Orphanet:2717|ICD10:Q87.8|GARD:0003395|SCTID:703539006|OMIM:248450|UMLS:C1855425 http://identifiers.org/omim/248450|SNOMEDCT:703539006|MESH:C536022|ORPHA:2717|UMLS:C1855425 http://purl.obolibrary.org/obo/MONDO_0009560 MOTA syndrome|Marles syndrome|MANITOBA oculotrichoanal syndrome|Manitoba Trichoanal syndrome|MOTA|Manitoba oculotrichoanal syndrome|Marles-Greenberg-Persaud syndrome|unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies|MANITOBA oculotrichoanal syndrome; MOTA ordo_malformation_syndrome HGNC:2076 CLN5 biolink:OntologyClass mondo http://identifiers.org/hgnc/2076 MONDO:0010563 blue cone monochromacy biolink:Disease mondo ICD10:H53.5|MESH:C536238|DOID:0050679|SCTID:24704003|Orphanet:16|UMLS:CN036572|GARD:0000917|OMIM:303700 Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia. MESH:C538165|UMLS:C0339537|MESH:C536238|DOID:0050679|SNOMEDCT:24704003|http://identifiers.org/omim/303700|UMLS:CN036572|ORPHA:16|UMLS:C2931753 http://purl.obolibrary.org/obo/MONDO_0010563 blue cone monochromacy; BCM|X-chromosome-linked achromatopsia|S cone monochromatism|CBBM|X-linked achromatopsia incomplete|incomplete achromatopsia X-linked|colorblindness, blue-Mono-cone-monochromatic type|blue cone monochromacy|BCM|blue cone monochromatism|cone dystrophy 5, X-linked|achromatopsia incomplete X-linked|S cone monochromacy|X-linked incomplete achromatopsia|color blindness, blue monocone monochromatic type|atypical X-linked achromatopsia|color blindness blue mono cone monochromatic type gard_rare|ordo_disease HGNC:2073 TPP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2073 MONDO:0010562 colonic atresia (disease) biolink:Disease mondo NCIT:C101024|OMIM:303650|HP:0010448|ICD10:Q42.9|MESH:C562562|GARD:0001446|SCTID:37054000|Orphanet:1198 Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns. UMLS:C0266190|ORPHA:1198|NCIT:C101024|SNOMEDCT:37054000|http://identifiers.org/omim/303650|MESH:C562562 http://purl.obolibrary.org/obo/MONDO_0010562 colonic atresia|colon atresia|atresia of colon|congenital atresia of colon ordo_morphological_anomaly HGNC:2074 CLN3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2074 MONDO:0010565 red color blindness biolink:Disease mondo EFO:0005580|ICD10:H53.54|SCTID:51445007|ICD9:368.51|DOID:13910|OMIM:303900 Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males. DOID:13910|http://identifiers.org/omim/303900|SNOMEDCT:51445007 http://purl.obolibrary.org/obo/MONDO_0010565 protanopia|protan defect|colorblindness, partial, protan series; CBP|CBP|protanomaly|red colorblindness|colorblindness, partial, protan series MONDO:0010564 red-green color blindness biolink:Disease mondo ICD9:368.52|DOID:13909|UMLS:C0155016|ICD10:H53.53|OMIM:303800|SCTID:77479002|EFO:0005581 Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population. SNOMEDCT:77479002|UMLS:C0155016|DOID:13909|http://identifiers.org/omim/303800 http://purl.obolibrary.org/obo/MONDO_0010564 Deutan defect|deuteranopia|colorblindness, partial, DEUTAN series; CBD|CBD|Deutan colorblindness|reduced red-green discrimination|colorblindness, partial, DEUTAN series|Green colorblindness|Deuteranomaly MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen biolink:Disease mondo GARD:0010119|MESH:C535975|UMLS:C1844775|OMIM:304030 UMLS:C1844775|http://identifiers.org/omim/304030|MESH:C535975 http://purl.obolibrary.org/obo/MONDO_0010567 cone dystrophy, X-linked, with tapetal-like sheen|X-linked recessive cone dystrophy with tapetal-like sheen|cone dystrophy X-linked with tapetal-like sheen gard_rare MONDO:0010566 X-linked cone-rod dystrophy 1 biolink:Disease mondo MESH:C564438|GARD:0010652|DOID:0111008|OMIM:304020 DOID:0111008|http://identifiers.org/omim/304020|MESH:C564438 http://purl.obolibrary.org/obo/MONDO_0010566 CORDX1|cone dystrophy X-linked 1|COD1|X-linked cone dystrophy 1|X-linked cone-rod dystrophy type 1|cone dystrophy 1, X-linked|cone-rod dystrophy, X-linked, type 1|cone-rod dystrophy X-linked 1|cone-rod dystrophy, X-linked, 1; CORDX1|cone-rod dystrophy, X-linked, 1 gard_rare MONDO:0022538 leukoplakia of gingiva biolink:Disease mondo NCIT:C3881|UMLS:C0239737|ICD9:528.6|SCTID:32236000 A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis. UMLS:C0239737|NCIT:C3881|SNOMEDCT:32236000 http://purl.obolibrary.org/obo/MONDO_0022538 Leukoplakia of Gingiva|Gingival Leukoplakia|Leukoplakia of gingiva|leukoplakia of gingiva|gingival leukoplakia HGNC:2079 CLN8 biolink:OntologyClass mondo http://identifiers.org/hgnc/2079 HGNC:2077 CLN6 biolink:OntologyClass mondo http://identifiers.org/hgnc/2077 MONDO:0022535 autonomic facial cephalgia biolink:Disease mondo ICD9:337.09|SCTID:230482003|UMLS:C0238902|GARD:0010369 UMLS:C0238902|SNOMEDCT:230482003 http://purl.obolibrary.org/obo/MONDO_0022535 Carotidynia|carotidynia|Autonomic facial cephalgia|Carotodynia MONDO:0010547 X-linked progressive cerebellar ataxia biolink:Disease mondo UMLS:C0796205|OMIM:302500|Orphanet:1175|ICD10:G11.1|MESH:C563134 http://identifiers.org/omim/302500|UMLS:C0796205|ORPHA:1175|MESH:C563134 http://purl.obolibrary.org/obo/MONDO_0010547 spinocerebellar ataxia, X-linked type 1|spinocerebellar ataxia, X-linked 1; SCAX1|OPCA, X-linked|olivopontocerebellar atrophy, X-linked|SCAX1|spinocerebellar ataxia, X-linked 1 ordo_disease MONDO:0009579 Frank-Ter Haar syndrome biolink:Disease mondo GARD:0005138|ICD10:Q87.8|SCTID:720958002|MESH:C537274|UMLS:C1855305|OMIM:249420|Orphanet:137834 Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. SNOMEDCT:720958002|http://identifiers.org/omim/249420|ORPHA:137834|MESH:C537274|UMLS:C1855305 http://purl.obolibrary.org/obo/MONDO_0009579 autosomal recessive Melnick-Needles syndrome (formerly)|Ter Haar syndrome|megalocornea, multiple skeletal anomalies, and developmental delay|Borrone Dermatocardioskeletal syndrome|Frank-Ter Haar syndrome|FRANK-TER Haar syndrome; FTHS|Melnick-Needles syndrome, autosomal recessive, formerly|Frank Ter Haar syndrome|Melnick-Needles syndrome, autosomal recessive|FTHS gard_rare|ordo_disease MONDO:0010546 central incisors, absence of biolink:Disease mondo OMIM:302400 http://identifiers.org/omim/302400 http://purl.obolibrary.org/obo/MONDO_0010546 central incisors, absence of UBERON:0006192 mesonephric proximal tubule biolink:AnatomicalEntity mondo The mesonephric proximal tubule extends from the capsule to the distal tubule http://purl.obolibrary.org/obo/UBERON_0006192 MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 biolink:Disease mondo GARD:0001258|SCTID:763455008|UMLS:C0393808|DOID:0110209|ICD10:G60.0|OMIM:302800|Orphanet:101075|NCIT:C129068 Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females. MESH:C535919|ORPHA:101075|http://identifiers.org/omim/302800|UMLS:C0393808|NCIT:C129068|SNOMEDCT:763455008|DOID:0110209 http://purl.obolibrary.org/obo/MONDO_0010549 Charcot-Marie-Tooth disease X-linked dominant type 1|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|CMT1X|CMTX 1|Charcot Marie Tooth disease X-linked 1|CMTX|Charcot-Marie-Tooth disease, X-linked dominant, 1|GJB1 Charcot-Marie-Tooth disease type X|CMT2, formerly|Charcot-Marie-Tooth neuropathy X type 1|Charcot-Marie-Tooth neuropathy, X-linked, 1|hereditary motor and sensory neuropathy, X-linked|X-linked Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth disease, X-linked dominant, type 1|CMT2|Charcot-Marie-Tooth disease, X-linked, 1|Charcot-Marie-Tooth disease, X-linked dominant, 1; CMTX1|CMTX1|Charcot-Marie-Tooth disease type X caused by mutation in GJB1|HMSN, X-linked|Charcot-Marie-Tooth neuropathy X-linked dominant 1 ordo_disease MONDO:0009578 neurocutaneous melanocytosis biolink:Disease mondo ICD10:D22.4|ICD10:D22.3|OMIM:249400|Orphanet:2481|GARD:0007186|ICD10:D22.7|ICD10:D22.6|MESH:C537387|ICD10:D22.5 Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death. http://identifiers.org/omim/249400|ORPHA:2481|UMLS:C0544862|MESH:C537387 http://purl.obolibrary.org/obo/MONDO_0009578 Neuromelanosis|neurocutaneous melanosis syndrome|melanosis, neurocutaneous; NCMS|melanosis, neurocutaneous|NCMS|neurocutaneous melanosis|NCM ordo_disease MONDO:0009577 megalocornea-intellectual disability syndrome biolink:Disease mondo ICD10:Q87.8|MESH:C536143|SCTID:733522005|UMLS:C0796086|OMIM:249310|GARD:0003448|Orphanet:2479 Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported. http://identifiers.org/omim/249310|UMLS:C0796086|ORPHA:2479|MESH:C536143|SNOMEDCT:733522005 http://purl.obolibrary.org/obo/MONDO_0009577 Neuhauser syndrome|Neuhäuser syndrome|MMR syndrome|NeuhC$user syndrome|megalocornea-intellectual disability syndrome|megalocornea intellectual disability syndrome|megalocornea mental retardation syndrome|megalocornea-mental retardation syndrome ordo_malformation_syndrome|gard_rare MONDO:0010548 spinocerebellar ataxia, X-linked 2 biolink:Disease mondo OMIM:302600|UMLS:C1844885|GARD:0009978|MESH:C537314 http://identifiers.org/omim/302600|MESH:C537314|UMLS:C1844885 http://purl.obolibrary.org/obo/MONDO_0010548 spinocerebellar ataxia, X-linked type 2|spinocerebellar ataxia, X-linked 2|spinocerebellar ataxia X-linked type 2|cerebellar ataxia with extrapyramidal involvement, early-onset|Scax2|cerebellar ataxia with extrapyramidal involvement early-onset UBERON:0006190 mesonephric distal tubule biolink:AnatomicalEntity mondo The mesonephric distal tubule is a mesonephric nephron tubule that begins at the macula densa and extends to the mesonephric connecting tubule http://purl.obolibrary.org/obo/UBERON_0006190 MONDO:0009576 megalocornea (disease) biolink:Disease mondo HP:0007660|HP:0000485|OMIM:249300|MESH:C562829|DOID:0060305|SCTID:268158009 DOID:0060305|http://identifiers.org/omim/249300|MESH:C562829|SNOMEDCT:268158009 http://purl.obolibrary.org/obo/MONDO_0009576 congenital anterior megalophthalmia|anterior megalophthalmos|megalocornea MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome biolink:Disease mondo ICD10:Q21.0|MESH:C536510|DOID:0090117|GARD:0009210|Orphanet:49827|OMIM:249270|SCTID:237617006|GARD:9210 Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. http://identifiers.org/omim/249270|ORPHA:49827|SNOMEDCT:237617006|MESH:C536510|UMLS:C0342287|DOID:0090117 http://purl.obolibrary.org/obo/MONDO_0009575 thiamine-responsive megaloblastic anemia syndrome; TRMA|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)|thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)|thiamine responsive megaloblastic anemia syndrome|megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness|thiamine metabolism dysfunction syndrome 1|Rogers syndrome|thiamine-responsive Anemia syndrome|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|thiamine-responsive megaloblastic anemia syndrome|thiamine-responsive myelodysplasia|TRMA|thiamine-responsive anemia syndrome|THMD1 gard_rare|ordo_disease MONDO:0009574 megalencephaly with dysmyelination biolink:Disease mondo OMIM:249240|MESH:C565408|UMLS:C1855309 http://identifiers.org/omim/249240|UMLS:C1855309|MESH:C565408 http://purl.obolibrary.org/obo/MONDO_0009574 megalencephaly with diffuse white matter hypodensity|megalencephaly with dysmyelination MONDO:0009573 megaepiphyseal dwarfism biolink:Disease mondo OMIM:249230|GARD:0003444 http://identifiers.org/omim/249230 http://purl.obolibrary.org/obo/MONDO_0009573 megaepiphyseal dwarfism gard_rare MONDO:0009572 autosomal recessive familial Mediterranean fever biolink:Disease mondo OMIM:249100 Autosomal recessive form of familial Mediterranean fever. http://identifiers.org/omim/249100 http://purl.obolibrary.org/obo/MONDO_0009572 familial Mediterranean fever, autosomal recessive|FMF|polyserositis, recurrent|familial Mediterranean fever|polyserositis, familial paroxysmal|familial MEDITERRANEAN FEVER; FMF MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 biolink:Disease mondo DOID:0110208|Orphanet:101076|OMIM:302801|MESH:C535302|ICD10:G60.0|SCTID:763457000|UMLS:C1844873|GARD:0001243 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. SNOMEDCT:763457000|UMLS:C1844873|DOID:0110208|MESH:C535302|ORPHA:101076|http://identifiers.org/omim/302801 http://purl.obolibrary.org/obo/MONDO_0010550 X-linked Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, X-linked recessive, 2|Charcot Marie Tooth disease X-linked recessive 2|Charcot-Marie-Tooth disease, X-linked recessive, 2; CMTX2|CMTX2|Charcot-Marie-Tooth neuropathy X-linked recessive 2|CMTX 2|Charcot-Marie-Tooth neuropathy, X-linked recessive, 2|Charcot-Marie-Tooth disease X-linked recessive type 2 ordo_disease MONDO:0009571 Meckel syndrome, type 1 biolink:Disease mondo MESH:C536133|OMIM:249000|DOID:0070115|UMLS:C3714506|ICD10:Q61.9 Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. DOID:0070115|UMLS:C3714506|MESH:C536133|http://identifiers.org/omim/249000 http://purl.obolibrary.org/obo/MONDO_0009571 MKS|Meckel syndrome, type 1; MKS1|Meckel-Gruber syndrome, type 1|Meckel syndrome, type 1|MKS1 Meckel syndrome|Meckel Gruber syndrome|Meckel syndrome 1|Gruber syndrome|MKS1|Mes|Meckel syndrome type1|Dysencephalia Splanchnocystica|Meckel syndrome|Meckel syndrome caused by mutation in MKS1|Meckel-Gruber syndrome|Dysencephalia splachnocystica MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita biolink:Disease mondo MESH:C538077|UMLS:C1844864|OMIM:302803 MESH:C538077|UMLS:C1844864|http://identifiers.org/omim/302803 http://purl.obolibrary.org/obo/MONDO_0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita MONDO:0009570 McDonough syndrome biolink:Disease mondo OMIM:248950|ICD10:Q87.8|Orphanet:2471|MESH:C538158|GARD:0003424|SCTID:715441004|UMLS:C0796038 A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. UMLS:C0796038|http://identifiers.org/omim/248950|MESH:C538158|ORPHA:2471|SNOMEDCT:715441004 http://purl.obolibrary.org/obo/MONDO_0009570 McDonough syndrome|mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect|intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect gard_rare|ordo_malformation_syndrome HGNC:2084 CLPP biolink:OntologyClass mondo http://identifiers.org/hgnc/2084 MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 biolink:Disease mondo Orphanet:101077|ICD10:G60.0|SCTID:763458005|MESH:C535303|UMLS:C1844865|GARD:0001244|DOID:0110211|OMIM:302802 X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. SNOMEDCT:763458005|UMLS:C1844865|MESH:C535303|DOID:0110211|ORPHA:101077|http://identifiers.org/omim/302802 http://purl.obolibrary.org/obo/MONDO_0010551 Charcot-Marie-Tooth disease, X-linked recessive, 3|Charcot Marie Tooth disease X-linked recessive 3|Charcot-Marie-Tooth disease X-linked recessive type 3|Charcot-Marie-Tooth disease, X-linked recessive, 3; CMTX3|CMTX 3|Charcot-Marie-Tooth neuropathy, X-linked recessive, 3|X-linked Charcot-Marie-Tooth disease type 3|Charcot-Marie-Tooth neuropathy X-linked recessive 3|CMT3X|CMTX3 ordo_disease MONDO:0010554 Abruzzo-Erickson syndrome biolink:Disease mondo MESH:C535559|SCTID:718574003|OMIM:302905|Orphanet:921|ICD10:Q87.8|GARD:0000360|UMLS:C1844862 Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. http://identifiers.org/omim/302905|UMLS:C1844862|SNOMEDCT:718574003|MESH:C535559|ORPHA:921 http://purl.obolibrary.org/obo/MONDO_0010554 cleft palate-coloboma-deafness syndrome|CHARGE-like syndrome, X-linked|CHARGE like syndrome X-linked|CHARGE-like syndrome|Abruzzo-Erickson syndrome|ABERS|Abruzzo-Erickson syndrome; ABERS gard_rare|ordo_malformation_syndrome MONDO:0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined biolink:Disease mondo OMIM:302900|MESH:C564446|UMLS:C1844863 http://identifiers.org/omim/302900|UMLS:C1844863|MESH:C564446 http://purl.obolibrary.org/obo/MONDO_0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined MONDO:0010556 X-linked chondrodysplasia punctata biolink:Disease mondo DOID:0060292|UMLS:C0263627|ICD10:Q77.3 X-linked form of chondrodysplasia punctata. DOID:0060292|UMLS:C0263627 http://purl.obolibrary.org/obo/MONDO_0010556 chondrodysplasia punctata, X-linked|X-linked dominant chondrodysplasia punctata|chondrodystrophia calcificans congenita|chondrodysplasia punctata, X-linked dominant|CPXD gard_rare|ordo_disease|prototype_pattern MONDO:0010555 X-linked chondrodysplasia punctata 1 biolink:Disease mondo UMLS:C1844853|OMIM:302950|ICD10:Q77.3|UMLS:C3669395|GARD:0001296|Orphanet:79345 Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones. http://identifiers.org/omim/302950|UMLS:C1844853|ORPHA:79345|UMLS:C3669395|MESH:C535941 http://purl.obolibrary.org/obo/MONDO_0010555 arse X-linked chondrodysplasia punctata|CDPX1|chondrodysplasia punctata 1, X-linked recessive; CDPX1|brachytelephalangic chondrodysplasia punctata|chondrodysplasia punctata 1, X-linked recessive|arylsulfatase E deficiency|chondrodysplasia punctata 1 X-linked recessive|X-linked chondrodysplasia punctata caused by mutation in arse|X-linked chondrodysplasia punctata caused by mutation in ARSE|chondrodysplasia punctata, brachytelephalangic|chondrodysplasia punctata brachytelephalangic|Cpxr|CPXR|ARSE X-linked chondrodysplasia punctata|chondrodysplasia punctata, Brachytelephalangic gard_rare|ordo_malformation_syndrome|prototype_pattern NCBITaxon:2683628 Bigyra organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2683628 NCBITaxon:2683629 Opalozoa organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2683629 MONDO:0022529 BK-virus nephropathy biolink:Disease mondo ICD9:079.89|GARD:0010470|SCTID:713886006|DOID:0040086|UMLS:C1697878 UMLS:C1697878|DOID:0040086|SNOMEDCT:713886006 http://purl.obolibrary.org/obo/MONDO_0022529 polyomavirus associated nephropathy|PVAN|nephropathy from BK virus|kidney disease caused by BK polyomavirus|nephropathy caused by BK polyomavirus|BK virus nephropathy|Polyomavirus nephropathy|BKN gard_rare NCBITaxon:162997 Culex annulirostris organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_162997 MONDO:0009549 severe early-childhood-onset retinal dystrophy biolink:Disease mondo SCTID:716663009|OMIM:248200|Orphanet:364055|ICD10:H35.5 Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy. SNOMEDCT:716663009|http://identifiers.org/omim/248200|ORPHA:364055 http://purl.obolibrary.org/obo/MONDO_0009549 fundus flavimaculatus|macular Degeneration, juvenile|SECORD|Stargardt disease type 1|early-onset severe retinal dystrophy|STGD1|Stgd|retinal dystrophy, early-onset severe|Stargardt disease 1|EOSRD|Stargardt disease 1; STGD1|macular dystrophy with flecks, type 1 ordo_disease MONDO:0009548 renal hypomagnesemia 5 with ocular involvement biolink:Disease mondo Orphanet:2196|ICD10:E83.4|DOID:0060881|MESH:C536148|GARD:0003451|OMIM:248190 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. MESH:C536148|UMLS:C2931121|http://identifiers.org/omim/248190|DOID:0060881|ORPHA:2196 http://purl.obolibrary.org/obo/MONDO_0009548 FHHNCOI|familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement|idiopathic hypercalciuria with bilateral macular colobomata|FHHNC with severe ocular involvement|bilateral macular coloboma with hypercalciuria|HOMG5|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement|hypomagnesemia 5, renal, with ocular involvement; HOMG5|hypercalciuria-bilateral macular coloboma syndrome|hypomagnesemia, renal, with ocular involvement|hypomagnesemia 5, renal, with ocular involvement|Meier-Blumberg-Imahorn syndrome|macular coloboma, bilateral, with hypercalciuria|Meier Blumberg Imahorn syndrome ordo_disease|gard_rare MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome biolink:Disease mondo UMLS:C1855467|OMIM:248110|Orphanet:2432|GARD:0000177|MESH:C537830|ICD10:Q87.0 Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. MESH:C537830|UMLS:C1855467|http://identifiers.org/omim/248110|ORPHA:2432 http://purl.obolibrary.org/obo/MONDO_0009547 macrosomia microphthalmia cleft palate|macrosomia with microphthalmia, lethal|Teebi-Al Saleh-Hassoon syndrome|macrosomia with lethal microphthalmia|Teebi Al-Saleh Hassoon syndrome ordo_malformation_syndrome|gard_rare MONDO:0010536 tubulin, beta biolink:Disease mondo OMIM:301850 http://identifiers.org/omim/301850 http://purl.obolibrary.org/obo/MONDO_0010536 tubulin, beta MONDO:0010535 Bazex-Dupre-Christol syndrome biolink:Disease mondo SCTID:254820002|OMIM:301845|GARD:0000838|Orphanet:113|ICD10:L98.8 Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. UMLS:C0346104|http://identifiers.org/omim/301845|ORPHA:113|MESH:C537663|SNOMEDCT:254820002 http://purl.obolibrary.org/obo/MONDO_0010535 BDCS|Bazex syndrome; BZX|follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome|follicular atrophoderma and basal cell carcinomas|follicular atrophoderma-basal cell carcinoma syndrome|Bazex-Dupre-Christol syndrome|BZX|Bazex-Dupré-Christol syndrome|Bazex syndrome ordo_disease MONDO:0009546 macrosomia adiposa congenita biolink:Disease mondo OMIM:248100|UMLS:C1855468|MESH:C565425 MESH:C565425|UMLS:C1855468|http://identifiers.org/omim/248100 http://purl.obolibrary.org/obo/MONDO_0009546 macrosomia adiposa congenita MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance biolink:Disease mondo UMLS:C2931597|MESH:C537721|OMIM:248010|GARD:0000173 MESH:C537721|http://identifiers.org/omim/248010|UMLS:C2931597 http://purl.obolibrary.org/obo/MONDO_0009545 Macroepiphyseal dysplasia, McAlister coe type|macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance|McAlister coe Whyte syndrome gard_rare MONDO:0010538 Mononen-Karnes-Senac syndrome biolink:Disease mondo OMIM:301940|DOID:0110973|UMLS:C2931060|MESH:C535914|ICD10:Q87.5|Orphanet:2565|SCTID:733095006|GARD:0004886 Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. UMLS:C2931060|DOID:0110973|MESH:C535914|http://identifiers.org/omim/301940|ORPHA:2565|SNOMEDCT:733095006 http://purl.obolibrary.org/obo/MONDO_0010538 Mononen type brachydactyly|skeletal dysplasia brachydactyly|brachydactyly Mononen type|skeletal dysplasia-brachydactyly syndrome|short and abducted thumbs and great toes|brachydactyly, Mononen type|Mononen Karnes Senac syndrome|thumbs and great toes short and abducted|thumbs and great toes, short and abducted ordo_malformation_syndrome|gard_rare MONDO:0010537 Borjeson-Forssman-Lehmann syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C0265339|MESH:C536575|ICD9:759.89|DOID:0050681|GARD:0000936|OMIM:301900|Orphanet:127|SCTID:21634003 Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. SNOMEDCT:21634003|http://identifiers.org/omim/301900|ORPHA:127|UMLS:C0265339|DOID:0050681|MESH:C536575 http://purl.obolibrary.org/obo/MONDO_0010537 mental retardation, epilepsy, and endocrine disorder|intellectual disability-epilepsy-endocrine disorders syndrome|intellectual deficiency-epilepsy-endocrine disorders syndrome|mental deficiency, epilepsy and endocrine disorders|syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type|mental retardation, epilepsy, and endocrine disorders|intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type|intellectual disability, epilepsy, and endocrine disorders|MRXSBFL|intellectual disability, epilepsy, and endocrine disorder|Borjeson-FORSSMAN-Lehmann syndrome; BFLS|Borjeson-Forssman-Lehmann syndrome|BFLS|BORJ|Borjeson syndrome|syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type|mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type ordo_malformation_syndrome|gard_rare MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive biolink:Disease mondo UMLS:C3806412|MESH:C537453|OMIM:248000|GARD:0000148 http://identifiers.org/omim/248000|UMLS:C3806412|MESH:C537453 http://purl.obolibrary.org/obo/MONDO_0009544 macrocephaly/megalencephaly syndrome, autosomal recessive|mental retardation, macrocephaly, short stature and craniofacial dysmorphism|Fryns Dereymaeker Haegeman syndrome|macrocephaly/megalencephaly syndrome, autosomal recessive; MGCPH|MGCPH|intellectual disability, macrocephaly, short stature and craniofacial dysmorphism gard_rare MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome biolink:Disease mondo GARD:0000144|Orphanet:2083|ICD10:Q87.8|OMIM:247990|UMLS:C0796024|MESH:C537714 Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. MESH:C537714|UMLS:C0796024|ORPHA:2083|http://identifiers.org/omim/247990 http://purl.obolibrary.org/obo/MONDO_0009543 MacDermot-Winter syndrome|Mac Dermot Winter syndrome|prominent glabella microcephaly hypogenitalism gard_rare|ordo_malformation_syndrome MONDO:0010539 X-linked mandibulofacial dysostosis biolink:Disease mondo ICD10:Q75.4|MESH:C537102|GARD:0001002|OMIM:301950|SCTID:719813003|Orphanet:1131|UMLS:C1844918 X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. SNOMEDCT:719813003|http://identifiers.org/omim/301950|ORPHA:1131|MESH:C537102|UMLS:C1844918 http://purl.obolibrary.org/obo/MONDO_0010539 mandibulofacial dysostosis, Toriello type|branchial arch syndrome X-linked|X-linked branchial arch syndrome|mandibulofacial dysostosis, X-linked|mandibulofacial dysostosis Toriello type|branchial arch syndrome, X-linked|MFD Toriello type|X-linked mandibulofacial dysostosis with limb anomalies ordo_malformation_syndrome MONDO:0009542 lysine malabsorption syndrome biolink:Disease mondo MESH:C563080|UMLS:C0796023|OMIM:247950 MESH:C563080|UMLS:C0796023|http://identifiers.org/omim/247950 http://purl.obolibrary.org/obo/MONDO_0009542 lysine malabsorption syndrome MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis biolink:Disease mondo UMLS:C1855470|MESH:C565427|OMIM:247800 MESH:C565427|UMLS:C1855470|http://identifiers.org/omim/247800 http://purl.obolibrary.org/obo/MONDO_0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency biolink:Disease mondo OMIM:247650|MESH:C565428|UMLS:C1855471 UMLS:C1855471|http://identifiers.org/omim/247650|MESH:C565428 http://purl.obolibrary.org/obo/MONDO_0009540 lymphokine deficiency NCBITaxon:53527 Culex organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex MONDO:0010541 X-linked calvarial hyperostosis biolink:Disease mondo ICD10:M85.2|OMIM:302030|GARD:0001058|MESH:C537963|Orphanet:391327 ORPHA:391327|MESH:C537963|http://identifiers.org/omim/302030 http://purl.obolibrary.org/obo/MONDO_0010541 calvarial hyperostosis|isolated hyperostosis of the calvarium ordo_disease MONDO:0010540 bullous dystrophy, macular type biolink:Disease mondo OMIM:302000|Orphanet:1867|ICD10:Q81.8|GARD:0001038|MESH:C563065|UMLS:C0795974 Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. UMLS:C0795974|ORPHA:1867|MESH:C563065|http://identifiers.org/omim/302000 http://purl.obolibrary.org/obo/MONDO_0010540 epidermolysis bullosa, macular type|epidermolysis bullosa macular type|EBM|bullous dystrophy hereditary macular type|bullous dystrophy, hereditary macular type gard_rare|ordo_disease MONDO:0010543 Barth syndrome biolink:Disease mondo GARD:0005890|SCTID:297231002|UMLS:C0574083|ICD10:E78.71|DOID:0050476|MESH:D056889|OMIM:302060|ICD10:E71.1|Orphanet:111|NCIT:C84585 Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. UMLS:C0574083|NCIT:C84585|ORPHA:111|MESH:D056889|DOID:0050476|http://identifiers.org/omim/302060|SNOMEDCT:297231002 http://purl.obolibrary.org/obo/MONDO_0010543 Barth syndrome|X-linked cardioskeletal myopathy and neutropenia|Mga, type 2|3-methylglutaconic aciduria type 2|cardioskeletal myopathy with neutropenia and abnormal mitochondria|TAZ defect|MGA type 2|MGA2|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria type II|3-Methylglutaconicaciduria type 2|3-Methylglutaconicaciduria type II|BTHS|BARTH syndrome; BTHS|MGA type II|3-Methylglutaconic aciduria, type 2 gard_rare|ordo_disease MONDO:0010542 dilated cardiomyopathy 3B biolink:Disease mondo OMIM:302045|MESH:C580047|DOID:0110461|SCTID:702424003|ICD10:I42.0|ICD9:425.4|DOID:0060561|UMLS:C3668940 Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene. SNOMEDCT:702424003|UMLS:C3668940|MESH:C580047|DOID:0110461|http://identifiers.org/omim/302045|DOID:0060561 http://purl.obolibrary.org/obo/MONDO_0010542 cardiomyopathy, dilated, type 3B|cardiomyopathy, dilated, 3B|CMD3B|X-linked dilated cardiomyopathy|dilated cardiomyopathy caused by mutation in DMD|DMD-related dilated cardiomyopathy|DMD dilated cardiomyopathy|dilated cardiomyopathy type 3B|cardiomyopathy, dilated, 3B; CMD3B|cardiomyopathy, dilated, X-linked MONDO:0010545 Nance-Horan syndrome biolink:Disease mondo ICD9:759.89|ICD10:Q87.0|MESH:C538336|SCTID:445257004|OMIM:302350|GARD:0007161|DOID:0060599|Orphanet:627|UMLS:C0796085 Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism. http://identifiers.org/omim/302350|UMLS:C0796085|MESH:C538336|SNOMEDCT:445257004|ORPHA:627|DOID:0060599 http://purl.obolibrary.org/obo/MONDO_0010545 cataract-dental syndrome|Nance-Horan syndrome; NHS|cataract X-linked with Hutchinsonian teeth|Nance-Horan syndrome|Mesiodens cataract syndrome|cataract, X-linked, with Hutchinsonian teeth|cataract dental syndrome|Mesiodens-cataract syndrome|NHS ordo_malformation_syndrome|gard_rare MONDO:0010544 cataract 40 biolink:Disease mondo OMIM:302200|GARD:0008278|DOID:0110272|MESH:C535338|ICD10:Q12.0 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene. MESH:C535338|DOID:0110272|http://identifiers.org/omim/302200 http://purl.obolibrary.org/obo/MONDO_0010544 CTRCT40|cataract 40|NHS early-onset non-syndromic cataract|cataract 40 X-linked|cataract congenital X-linked|early-onset non-syndromic cataract caused by mutation in NHS|cataract, congenital, with microcornea or slight microphthalmia|cataract 40, X-linked|cataract type 40|cataract 40; CTRCT40|cataract, congenital, X-linked|cataract 40 with or without microcornea|cataract, congenital total, with posterior sutural opacities in heterozygotes UBERON:0006183 mesonephric glomerular capillary biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0006183 MONDO:0022518 autoimmune inner ear disease biolink:Disease mondo GARD:0008582 A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible. http://purl.obolibrary.org/obo/MONDO_0022518 AIED gard_rare MONDO:0022519 autoimmune myocarditis biolink:Disease mondo GARD:0009519 Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended. http://purl.obolibrary.org/obo/MONDO_0022519 gard_rare MONDO:0022510 atlanto-axial fusion biolink:Disease mondo MESH:C538196|GARD:0009219 MESH:C538196 http://purl.obolibrary.org/obo/MONDO_0022510 atlantoaxial fusion|atlantoaxial joint fusion gard_rare UBERON:0018154 ligament of middle ear biolink:AnatomicalEntity mondo A ligament that is part of a middle ear. http://purl.obolibrary.org/obo/UBERON_0018154 MONDO:0022512 obsolete atrial septal defect coronary sinus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022512 UBERON:0018151 skin of upper lip biolink:AnatomicalEntity mondo A zone of skin that is part of a upper lip. http://purl.obolibrary.org/obo/UBERON_0018151 upper lip skin MONDO:0022513 atrophoderma of Pierini and Pasini biolink:Disease mondo SCTID:711524008|ICD10:L90.3|GARD:0005866 Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases. SNOMEDCT:711524008 http://purl.obolibrary.org/obo/MONDO_0022513 idiopathic atrophoderma of Pasini and Pierini|congenital atrophoderma of Pasini and Pierini gard_rare MONDO:0009559 mandibulofacial dysostosis with mental deficiency biolink:Disease mondo OMIM:248400|MESH:C565420|UMLS:C1855432 UMLS:C1855432|MESH:C565420|http://identifiers.org/omim/248400 http://purl.obolibrary.org/obo/MONDO_0009559 mandibulofacial dysostosis with intellectual disability|mandibulofacial dysostosis with mental retardation|mandibulofacial dysostosis with mental deficiency MONDO:0010525 neural tube defects, X-linked biolink:Disease mondo OMIM:301410|UMLS:C1845026|GARD:0000669|MESH:C536359 http://identifiers.org/omim/301410|UMLS:C1845026|MESH:C536359 http://purl.obolibrary.org/obo/MONDO_0010525 X-linked anencephaly/spina bifida|anencephaly and spina bifida X-linked|neural tube defects, X-linked|spina bifida, X-linked gard_rare MONDO:0009558 Treacher Collins syndrome 3 biolink:Disease mondo GARD:0009125|MESH:C535707|OMIM:248390 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene. MESH:C535707|http://identifiers.org/omim/248390 http://purl.obolibrary.org/obo/MONDO_0009558 Treacher-Collins syndrome caused by mutation in POLR1C|TCS3|TREACHER COLLINS syndrome 3; TCS3|Treacher Collins syndrome 3|mandibulofacial dysostosis, Treacher Collins type, autosomal recessive|POLR1C Treacher-Collins syndrome|Treacher Collins syndrome type 3 gard_rare MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy biolink:Disease mondo UMLS:CN236772|OMIM:248370|NCIT:C123417|ICD10:Q87.5|MESH:C535705|GARD:0003374|SCTID:109419009|UMLS:CN206381|Orphanet:90153 A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. UMLS:CN206381|MESH:C535705|UMLS:CN236772|http://identifiers.org/omim/248370|SNOMEDCT:109419009|NCIT:C123417|ORPHA:90153 http://purl.obolibrary.org/obo/MONDO_0009557 mandibuloacral dysplasia with type A lipodystrophy|lipodystrophy, type A, associated with Mandibuloacral dysplasia|craniomandibular Dermatodysostosis|MANDIBULOACRAL dysplasia with type A lipodystrophy; MADA|Mandibuloacral dysplasia with type a lipodystrophy, atypical|MADA gard_rare|ordo_clinical_subtype MONDO:0010524 X-linked sideroblastic anemia with ataxia biolink:Disease mondo DOID:0060064|UMLS:C4304338|OMIM:301310|SCTID:719816006|UMLS:C1845028|ICD10:D64.0|GARD:0000668|Orphanet:2802|DOID:0050554|MESH:C536358 X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. DOID:0060064|SNOMEDCT:719816006|http://identifiers.org/omim/301310|UMLS:C1845028|ORPHA:2802|UMLS:C4304338|MESH:C536358|DOID:0050554 http://purl.obolibrary.org/obo/MONDO_0010524 XLSA-A|ASAT|sideroblastic anemia with spinocerebellar ataxia|X-linked sideroblastic anemia with spinocerebellar ataxia|anemia, sideroblastic, and spinocerebellar ataxia; ASAT|anemia sideroblastic and spinocerebellar ataxia|X-linked sideroblastic anemia and ataxia|X-linked sideroblastic anemia and spinocerebellar ataxia|X-linked sideroblastic anemia with ataxia|X-linked sideroblastic Anemia and ataxia|anemia, Sex-linked hypochromic Siderobla|anemia, sideroblastic, and spinocerebellar ataxia|Pagon Bird Detter syndrome|Xlsa-A|Pagon-Bird-Detter syndrome ordo_disease UBERON:0006170 mesonephric capsule biolink:AnatomicalEntity mondo The mesonephric capsule is the tough fibrous layer surrounding the mesonephros, covered in a thick layer of perinephric adipose tissue. http://purl.obolibrary.org/obo/UBERON_0006170 MONDO:0010527 microphthalmia-ankyloblepharon-intellectual disability syndrome biolink:Disease mondo SCTID:717222003|ICD10:Q11.2|GARD:0005066|OMIM:301590|Orphanet:85275|MESH:C564457 Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. MESH:C564457|http://identifiers.org/omim/301590|SNOMEDCT:717222003|ORPHA:85275 http://purl.obolibrary.org/obo/MONDO_0010527 microphthalmia, syndromic 4; MCOPS4|microphthalmia with ankyloblepharon and mental retardation|microphthalmia syndromic 4|microphthalmia, syndromic 4|syndromic microphthalmia type 4|MCOPS4|microphthalmia with ankyloblepharon and intellectual disability|Anop1, formerly|Anop1 gard_rare|ordo_malformation_syndrome MONDO:0009556 malonic aciduria biolink:Disease mondo SCTID:361203007|UMLS:C0342793|OMIM:248360|ICD10:E72.8|MESH:C535702|GARD:0003371|Orphanet:943 Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). ORPHA:943|MESH:C535702|UMLS:C0342793|SNOMEDCT:361203007|http://identifiers.org/omim/248360 http://purl.obolibrary.org/obo/MONDO_0009556 malonic acidemia|MCD deficiency|malonyl-CoA decarboxylase deficiency|Malonicaciduria ordo_disease MONDO:0009555 malocclusion and short stature biolink:Disease mondo MESH:C565421|OMIM:248350|UMLS:C1855453 MESH:C565421|UMLS:C1855453|http://identifiers.org/omim/248350 http://purl.obolibrary.org/obo/MONDO_0009555 malocclusion and short stature MONDO:0010526 Fabry disease biolink:Disease mondo UMLS:C0002986|NCIT:C84701|DOID:14499|GARD:0006400|SCTID:16652001|ICD10:E75.2|Orphanet:324|MESH:D000795|MedDRA:10016016|OMIM:301500|ICD10:E75.21 Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. NCIT:C27528|SNOMEDCT:16652001|http://identifiers.org/omim/301500|NCIT:C84701|UMLS:C0002986|ORPHA:324|MEDDRA:10016016|MESH:D000795|DOID:14499 http://purl.obolibrary.org/obo/MONDO_0010526 Fd|Anderson-Fabry disease|ceramide trihexosidase deficiency|deficiency of melibiase|diffuse angiokeratoma|Alpha-galactosidase A deficiency|hereditary dystopic lipidosis|alpha galactosidase deficiency|Fabry disease, Cardiac variant|Fabry disease|angiokeratoma, diffuse|angiokeratoma corporis diffusum|Gla deficiency|Fabry's disease ordo_disease|clingen MONDO:0010529 X-linked spinocerebellar ataxia type 3 biolink:Disease mondo UMLS:C1844936|OMIM:301790|Orphanet:85297|GARD:0009981|SCTID:719817002|MESH:C537315|ICD10:G11.1 X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. UMLS:C1844936|SNOMEDCT:719817002|http://identifiers.org/omim/301790|MESH:C537315|ORPHA:85297 http://purl.obolibrary.org/obo/MONDO_0010529 X-linked ataxia-deafness syndrome|spinocerebellar ataxia X-linked type 3|spinocerebellar ataxia, X-linked 3|ataxia-deafness syndrome X-linked|Scax3|ataxia-deafness syndrome, X-linked|SCAX3|spinocerebellar ataxia, X-linked type 3 ordo_malformation_syndrome|gard_rare MONDO:0009554 3MC syndrome 3 biolink:Disease mondo Orphanet:2453|UMLS:C0796032|MESH:C535704|OMIM:248340|DOID:0060577 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene. MESH:C535704|DOID:0060577|http://identifiers.org/omim/248340|UMLS:C0796032|ORPHA:2453 http://purl.obolibrary.org/obo/MONDO_0009554 3MC syndrome caused by mutation in COLEC10|3MC syndrome type 3|3MC3|facial clefting syndrome, Gypsy type|3Mc syndrome type 3|COLEC10 3MC syndrome|3MC syndrome 3|3MC syndrome 3; 3MC3|Malpuech Facial clefting syndrome, formerly|Malpuech Facial clefting syndrome MONDO:0010528 anosmia (disease) biolink:Disease mondo HP:0000458|MESH:D000857|OMIM:301700 Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions. MESH:D000857|http://identifiers.org/omim/301700 http://purl.obolibrary.org/obo/MONDO_0010528 anosmia MONDO:0009553 Plasmodium falciparum blood infection level biolink:Disease mondo OMIM:248310 http://identifiers.org/omim/248310 http://purl.obolibrary.org/obo/MONDO_0009553 Plasmodium falciparum parasitemia|Pfbi|Plasmodium falciparum blood infection level MONDO:0009552 mal de Meleda biolink:Disease mondo Orphanet:87503|ICD10:Q82.8|OMIM:248300|SCTID:239069005|UMLS:C0025221|GARD:0000092|ICD9:757.39|DOID:0060862 Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. DOID:0060862|http://identifiers.org/omim/248300|ORPHA:87503|UMLS:C0025221|SNOMEDCT:239069005 http://purl.obolibrary.org/obo/MONDO_0009552 MDM|Meleda disease|MAL DE Meleda; MDM|transgrediens palmoplantar keratoderma of Siemens|keratosis palmoplantaris transgrediens of Siemens|mal de Meleda|keratosis palmoplantaris transgradiens of Siemens gard_rare|ordo_disease GO:1905123 regulation of glucosylceramidase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glucosylceramidase activity. http://purl.obolibrary.org/obo/GO_1905123 regulation of glucocerebrosidase activity|regulation of beta-D-glucocerebrosidase activity|regulation of glucosphingosine glucosylhydrolase activity|regulation of psychosine hydrolase activity|regulation of GlcCer-beta-glucosidase activity|regulation of glucosylsphingosine beta-glucosidase activity|regulation of beta-glucocerebrosidase activity|regulation of beta-glucosylceramidase activity|regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|regulation of glucosylcerebrosidase activity|regulation of ceramide glucosidase activity|regulation of glucosylsphingosine beta-D-glucosidase activity|regulation of GCase activity|regulation of acid beta-glucosidase activity GO:1905124 negative regulation of glucosylceramidase activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of glucosylceramidase activity. http://purl.obolibrary.org/obo/GO_1905124 down-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|negative regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down regulation of acid beta-glucosidase activity|down-regulation of psychosine hydrolase activity|negative regulation of psychosine hydrolase activity|inhibition of glucosylcerebrosidase activity|down-regulation of glucosylsphingosine beta-glucosidase activity|down-regulation of glucosylcerebrosidase activity|down regulation of glucosylceramidase activity|negative regulation of glucosylsphingosine beta-glucosidase activity|negative regulation of glucosylcerebrosidase activity|down regulation of glucosphingosine glucosylhydrolase activity|inhibition of glucocerebrosidase activity|down regulation of beta-D-glucocerebrosidase activity|downregulation of glucocerebrosidase activity|inhibition of acid beta-glucosidase activity|negative regulation of acid beta-glucosidase activity|down-regulation of acid beta-glucosidase activity|down regulation of psychosine hydrolase activity|negative regulation of GCase activity|downregulation of GlcCer-beta-glucosidase activity|inhibition of beta-D-glucocerebrosidase activity|down regulation of glucosylsphingosine beta-glucosidase activity|inhibition of glucosphingosine glucosylhydrolase activity|downregulation of beta-glucocerebrosidase activity|negative regulation of beta-D-glucocerebrosidase activity|down-regulation of beta-D-glucocerebrosidase activity|inhibition of glucosylceramidase activity|downregulation of glucosphingosine glucosylhydrolase activity|downregulation of glucosylceramidase activity|down-regulation of ceramide glucosidase activity|negative regulation of ceramide glucosidase activity|downregulation of psychosine hydrolase activity|inhibition of psychosine hydrolase activity|down-regulation of glucosylsphingosine beta-D-glucosidase activity|inhibition of glucosylsphingosine beta-glucosidase activity|down regulation of GlcCer-beta-glucosidase activity|downregulation of glucosylsphingosine beta-glucosidase activity|downregulation of beta-glucosylceramidase activity|negative regulation of glucosylsphingosine beta-D-glucosidase activity|down regulation of beta-glucocerebrosidase activity|downregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down regulation of ceramide glucosidase activity|downregulation of glucosylcerebrosidase activity|inhibition of GlcCer-beta-glucosidase activity|negative regulation of glucocerebrosidase activity|down regulation of glucosylsphingosine beta-D-glucosidase activity|inhibition of beta-glucocerebrosidase activity|down-regulation of glucocerebrosidase activity|negative regulation of GlcCer-beta-glucosidase activity|down-regulation of GlcCer-beta-glucosidase activity|downregulation of acid beta-glucosidase activity|down-regulation of beta-glucocerebrosidase activity|negative regulation of beta-glucocerebrosidase activity|down regulation of beta-glucosylceramidase activity|down regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down-regulation of glucosylceramidase activity|inhibition of beta-glucosylceramidase activity|down-regulation of glucosphingosine glucosylhydrolase activity|inhibition of ceramide glucosidase activity|downregulation of ceramide glucosidase activity|negative regulation of glucosphingosine glucosylhydrolase activity|down regulation of glucosylcerebrosidase activity|downregulation of beta-D-glucocerebrosidase activity|down regulation of glucocerebrosidase activity|negative regulation of beta-glucosylceramidase activity|inhibition of D-glucosyl-N-acylsphingosine glucohydrolase activity|inhibition of glucosylsphingosine beta-D-glucosidase activity|down-regulation of beta-glucosylceramidase activity|downregulation of glucosylsphingosine beta-D-glucosidase activity MONDO:0009551 magnesium, elevated red cell biolink:Disease mondo OMIM:248260 http://identifiers.org/omim/248260 http://purl.obolibrary.org/obo/MONDO_0009551 magnesium, elevated red cell MONDO:0009550 renal hypomagnesemia 3 biolink:Disease mondo DOID:0060880|OMIM:248250|MESH:C537153|SCTID:725033008|ICD10:E83.4|Orphanet:31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. DOID:0060880|http://identifiers.org/omim/248250|MESH:C537153|ORPHA:31043|SNOMEDCT:725033008 http://purl.obolibrary.org/obo/MONDO_0009550 renal hypomagnesemia type 3|CLDN16 primary hypomagnesemia|hypercalciuria, childhood, self-limiting|isolated renal hypomagnesemia|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis|familial primary hypomagnesemia caused by mutation in CLDN16|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement|magnesium, defect in renal tubular transport of|primary hypomagnesemia caused by mutation in CLDN16|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included|FHHNC without severe ocular involvement|hypomagnesemia 3, renal; HOMG3|hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium|HOMG3|primary hypomagnesemia due to defect in renal tubular transport of magnesium|hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium|CLDN16 familial primary hypomagnesemia|hypomagnesemia, isolated renal|hypomagnesemia 3, renal ordo_disease GO:1905114 cell surface receptor signaling pathway involved in cell-cell signaling biolink:OntologyClass mondo Any cell surface receptor signaling pathway that is involved in cell-cell signaling. http://purl.obolibrary.org/obo/GO_1905114 cell surface receptor linked signal transduction involved in cell-cell signaling|cell surface receptor linked signalling pathway involved in cell-cell signalling|cell surface receptor linked signaling pathway involved in cell-cell signaling|cell surface receptor linked signaling pathway involved in cell-cell signalling|cell surface receptor signaling pathway involved in cell-cell signalling|cell surface receptor linked signal transduction involved in cell-cell signalling|cell surface receptor linked signalling pathway involved in cell-cell signaling MONDO:0010530 obsolete anus, imperforate biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010530 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy biolink:Disease mondo SCTID:719836007|MESH:C535380|UMLS:C1844934|OMIM:301830|Orphanet:1145|GARD:0008521|ICD10:G12.1 A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. http://identifiers.org/omim/301830|ORPHA:1145|SNOMEDCT:719836007|UMLS:C1844934|MESH:C535380 http://purl.obolibrary.org/obo/MONDO_0010532 SMAX2|X-linked spinal muscular atrophy type 2|spinal muscular atrophy, X-linked 2; SMAX2|arthrogryposis, X-linked, type 1|spinal muscular atrophy, X-linked 2|spinal muscular atrophy, X-linked lethal infantile|AMC, distal, X-linked|spinal muscular atrophy, X-linked type 2|spinal muscular atrophy with arthrogryposis|spinal muscular atrophy, infantile X-linked|X-linked distal arthrogryposis multiplex congenita|arthrogryposis multiplex congenita, distal, X-linked ordo_disease UBERON:0006175 pronephric distal tubule biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006175 MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome biolink:Disease mondo SCTID:720746006|ICD10:Q87.8|OMIM:301815|GARD:0001515|Orphanet:1484 Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. SNOMEDCT:720746006|UMLS:C2931745|http://identifiers.org/omim/301815|MESH:C538135|ORPHA:1484|UMLS:C1844935|MESH:C535465 http://purl.obolibrary.org/obo/MONDO_0010531 Ladda Zonana Ramer syndrome|Ladda-Zonana-Ramer syndrome|contractures ectodermal dysplasia cleft lip palate|congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment|arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay ordo_malformation_syndrome MONDO:0010534 X-linked spinocerebellar ataxia type 4 biolink:Disease mondo SCTID:719818007|UMLS:C1844933|ICD10:G11.1|OMIM:301840|GARD:0009980|MESH:C537316|Orphanet:85292 Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. http://identifiers.org/omim/301840|MESH:C537316|ORPHA:85292|SNOMEDCT:719818007|UMLS:C1844933 http://purl.obolibrary.org/obo/MONDO_0010534 X-linked ataxia-dementia syndrome|spinocerebellar ataxia, X-linked 4|ataxia-dementia syndrome, X-linked|Scax4|ataxia-dementia syndrome X-linked|SCAX4|spinocerebellar ataxia X-linked type 4|spinocerebellar ataxia, X-linked type 4 gard_rare|ordo_disease UBERON:0006173 pronephric proximal tubule biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006173 pronephros proximal tubule MONDO:0010533 Arts syndrome biolink:Disease mondo Orphanet:1187|MESH:C535388|SCTID:702441001|ICD9:277.2|OMIM:301835|DOID:0050647|UMLS:C0796028|ICD10:E79.8|GARD:0008756 Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. SNOMEDCT:702441001|UMLS:C0796028|http://identifiers.org/omim/301835|ORPHA:1187|DOID:0050647|MESH:C535388 http://purl.obolibrary.org/obo/MONDO_0010533 MRXS18|intellectual disability, X-linked, syndromic 18|ataxia, fatal X-linked, with deafness and loss of vision|intellectual disability, X-linked, syndromic, Arts type|fatal X-linked ataxia with deafness and loss of vision|Arts syndrome|Arts syndrome; Arts|MRXSARTS|syndromic X-linked intellectual disability 18|syndromic X-linked mental retardation 18|mental retardation, X-linked, syndromic 18|Arts|X-linked fatal ataxia with deafness and loss of vision|mental retardation, X-linked, syndromic, Arts type|syndromic X-linked intellectual disability Arts type|lethal ataxia with deafness and optic atrophy|syndromic X-linked mental retardation Arts type|lethal ataxia-deafness-optic atrophy ordo_disease|clingen|gard_rare MONDO:0022504 arthrogryposis spinal muscular atrophy biolink:Disease mondo GARD:0000795 http://purl.obolibrary.org/obo/MONDO_0022504 gard_rare UBERON:0018150 skin of lower lip biolink:AnatomicalEntity mondo A zone of skin that is part of a lower lip. http://purl.obolibrary.org/obo/UBERON_0018150 lower lip skin MONDO:0022509 asternia biolink:Disease mondo GARD:0009221 Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs. http://purl.obolibrary.org/obo/MONDO_0022509 absent sternum gard_rare UBERON:0006208 auditory hillocks biolink:AnatomicalEntity mondo A collection of protruberances derived from pharyngeal arches 1 and 2 that develop into the folds of the pinna and gradually shift upwards and backwards to their final position on the head. http://purl.obolibrary.org/obo/UBERON_0006208 auditory hillock of Hiss|auditory tubercles|hillock of Hiss|auricular hillock NCBITaxon:6685 Penaeidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6685 penaeid shrimps UBERON:0006207 aortico-pulmonary spiral septum biolink:AnatomicalEntity mondo The spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta[MP]. The aorticopulmonary septum is developmentally formed from neural crest, specifically the cardiac neural crest, and actively separates the aorta and pulmonary arteries and fuses with the interventricular septum within the heart during development. The actual mechanism of septation of the outflow tract is poorly understood, but is recognized as a dynamic process with contributions from contractile, hemodynamic, and extracellular matrix interactions. http://purl.obolibrary.org/obo/UBERON_0006207 aortic septum|spiral septum|aortico-pulmonary septum|septum aorticopulmonale|aorticopulmonary septum HGNC:4612 GSC biolink:OntologyClass mondo http://identifiers.org/hgnc/4612 NCBITaxon:6684 Dendrobranchiata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6684 NCBITaxon:147389 Triticeae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147389 NCBITaxon:6683 Decapoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6683 NCBITaxon:6682 Eucarida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6682 UBERON:0008861 pyloric gastric gland biolink:AnatomicalEntity mondo The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. http://purl.obolibrary.org/obo/UBERON_0008861 glandula pylorica|pyloric mucuous gland|pyloric antrum gland|pyloric gland NCBITaxon:6681 Malacostraca organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6681 CHEBI:16294 barbituric acid biolink:ChemicalSubstance mondo A barbiturate, the structure of which is that of perhydropyrimidine substituted at C-2, -4 and -6 by oxo groups. Barbituric acid is the parent compound of barbiturate drugs, although it is not itself pharmacologically active. http://purl.obolibrary.org/obo/CHEBI_16294 Barbitursaeure|Malonylurea|pyrimidine-2,4,6(1H,3H,5H)-trione|Barbituric acid|2,4,6(1H,3H,5H)-pyrimidinetrione|Malonylharnstoff GO:0006955 immune response biolink:OntologyClass mondo Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. http://purl.obolibrary.org/obo/GO_0006955 GO:0006956 complement activation biolink:OntologyClass mondo Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. http://purl.obolibrary.org/obo/GO_0006956 complement response|complement cascade|complement activity GO:0006954 inflammatory response biolink:OntologyClass mondo The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/GO_0006954 inflammation NCBITaxon:147387 Poeae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147387 GO:0006952 defense response biolink:OntologyClass mondo Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. http://purl.obolibrary.org/obo/GO_0006952 defense/immunity protein activity|antimicrobial peptide activity|defence response|physiological defense response NCBITaxon:6687 Penaeus monodon organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6687 black tiger shrimp|Penaeus durbani|Penaeus carinatus|giant tiger prawn|Penaeus (Penaeus) monodon|tiger prawn|Penaeus bubulus GO:0006950 response to stress biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/GO_0006950 response to biotic stress|response to abiotic stress GO:0043902 positive regulation of multi-organism process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. http://purl.obolibrary.org/obo/GO_0043902 GO:0043901 negative regulation of multi-organism process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. http://purl.obolibrary.org/obo/GO_0043901 UBERON:0008856 stomach muscularis externa biolink:AnatomicalEntity mondo The smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines http://purl.obolibrary.org/obo/UBERON_0008856 muscle layer of stomach|gastric muscularis|tunica muscularis (gaster)|muscularis externa of stomach|tunica muscularis gastris UBERON:0008858 pyloric canal biolink:AnatomicalEntity mondo The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter http://purl.obolibrary.org/obo/UBERON_0008858 canalis pyloricus|canalis pyloricus UBERON:0008859 cardiac gastric gland biolink:AnatomicalEntity mondo A gastric gland in the cardiac region of the stomach; cardiac glands are fewer in number than in the fundus and body, and secrete mucin which coats the stomach and protects it[MP] http://purl.obolibrary.org/obo/UBERON_0008859 gastric cardiac gland|glandula cardiaca (gaster)|cardiac gland|gastric gland of cardia|gastric cardiac mucuous gland|gardiac gland GO:0043900 regulation of multi-organism process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. http://purl.obolibrary.org/obo/GO_0043900 HGNC:4624 GSS biolink:OntologyClass mondo http://identifiers.org/hgnc/4624 NCBITaxon:6692 Pleocyemata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6692 HGNC:4620 GSN biolink:OntologyClass mondo http://identifiers.org/hgnc/4620 GO:0006959 humoral immune response biolink:OntologyClass mondo An immune response mediated through a body fluid. http://purl.obolibrary.org/obo/GO_0006959 NCBITaxon:6690 Penaeus aztecus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6690 Penaeus (Farfantepenaeus) aztecus|Farfantepenaeus aztecus|brown shrimp NCBITaxon:6657 Crustacea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6657 crustaceans|crustaceans NCBITaxon:6656 Arthropoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6656 arthropods|arthropods GO:0006921 cellular component disassembly involved in execution phase of apoptosis biolink:OntologyClass mondo The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in apoptosis|cellular component disassembly involved in apoptotic process|disassembly of cell structures CHEBI:65256 antimicrobial food preservative biolink:ChemicalSubstance mondo A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299). http://purl.obolibrary.org/obo/CHEBI_65256 antimicrobial food preservatives|antimicrobial preservatives|antimicrobial preservative CHEBI:65255 food preservative biolink:ChemicalSubstance mondo Substances which are added to food in order to prevent decomposition caused by microbial growth or by undesirable chemical changes. http://purl.obolibrary.org/obo/CHEBI_65255 food preservatives UBERON:0008843 gubernaculum testis biolink:AnatomicalEntity mondo The fetal ligament attached to the inferior end of the epididymis and testis and, at its other end, to the bottom of the scrotum; it is present during, and is thought to guide, the descent of the testis into the scrotum and then atrophies. http://purl.obolibrary.org/obo/UBERON_0008843 Hunter's gubernaculum|gubernaculum|male gubernaculum GO:0018904 ether metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving organic ethers, any anhydride of the general formula R1-O-R2, formed between two identical or nonidentical organic hydroxy compounds. http://purl.obolibrary.org/obo/GO_0018904 organic ether metabolic process|ether metabolism|organic ether metabolism UBERON:0008844 gubernaculum (female) biolink:AnatomicalEntity mondo A gubernaculum that is part of a female reproductive system. http://purl.obolibrary.org/obo/UBERON_0008844 gubernaculum ovarii|female gubernaculum UBERON:0008845 nonskeletal ligament biolink:AnatomicalEntity mondo A ligament that does not connect two skeletal elements. http://purl.obolibrary.org/obo/UBERON_0008845 non-skeletal ligament|fibrous ligament UBERON:0008846 skeletal ligament biolink:AnatomicalEntity mondo Dense regular connective tissue connecting two or more adjacent skeletal elements[VSAO,modified]. http://purl.obolibrary.org/obo/UBERON_0008846 articular ligament|articular larua|ligament|true ligament NCBITaxon:147368 Pooideae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147368 NCBITaxon:89593 Craniata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata GO:0006928 movement of cell or subcellular component biolink:OntologyClass mondo The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. http://purl.obolibrary.org/obo/GO_0006928 cellular component motion|cell movement|cellular component movement GO:0006935 chemotaxis biolink:OntologyClass mondo The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/GO_0006935 taxis in response to chemical stimulus UBERON:0008835 hepatic diverticulum biolink:AnatomicalEntity mondo An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. http://purl.obolibrary.org/obo/UBERON_0008835 liver diverticulum|diverticulum hepaticum UBERON:0008836 liver bud biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0008836 UBERON:0008837 palmar/plantar part of autopod biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0008837 CHEBI:53212 isocyanates biolink:ChemicalSubstance mondo Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O (as opposed to the cyanate group, -O-C#N). http://purl.obolibrary.org/obo/CHEBI_53212 iso-cyanates MONDO:0009609 methylcobalamin deficiency type cblG biolink:Disease mondo OMIM:250940|ICD10:E72.1|GARD:0003577|EFO:0005597|SCTID:721187005|Orphanet:2170|DOID:0050733|GARD:0002733 Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. DOID:0050733|SNOMEDCT:721187005|ORPHA:2170|http://identifiers.org/omim/250940 http://purl.obolibrary.org/obo/MONDO_0009609 HMAG|homocystinuria-megaloblastic anemia, cblG complementation type|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type|functional methionine synthase deficiency type cblG|methylcobalamin deficiency Cbl G type|methylmalonic aciduria and homocystinuria type cblG|homocystinuria-megaloblastic anemia, cblG complementation type; HMAG|methionine synthase deficiency|methylcobalamin deficiency, cblG type|cblG|homocystinuria due to defect in methylation Cbl g gard_rare|ordo_clinical_subtype GO:0006903 vesicle targeting biolink:OntologyClass mondo The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. http://purl.obolibrary.org/obo/GO_0006903 MONDO:0009608 methionine malabsorption syndrome biolink:Disease mondo OMIM:250900|UMLS:C0268622|SCTID:45812003|MESH:C562682 MESH:C562682|SNOMEDCT:45812003|UMLS:C0268622|http://identifiers.org/omim/250900 http://purl.obolibrary.org/obo/MONDO_0009608 Smith-strang disease|oasthouse urine disease|methionine malabsorption syndrome GO:0006900 vesicle budding from membrane biolink:OntologyClass mondo The evagination of a membrane, resulting in formation of a vesicle. http://purl.obolibrary.org/obo/GO_0006900 single-organism membrane budding|vesicle biosynthesis|single organism membrane budding|vesicle budding|membrane evagination|nonselective vesicle assembly|vesicle formation MONDO:0009607 methionine adenosyltransferase deficiency biolink:Disease mondo OMIM:250850|NCIT:C123435|ICD10:E72.1|GARD:0008397|Orphanet:168598 Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination. ORPHA:168598|NCIT:C123435|http://identifiers.org/omim/250850 http://purl.obolibrary.org/obo/MONDO_0009607 methionine adenosyltransferase I/III deficiency|isolated persistent hypermethioninemia|MAT deficiency|methionine adenosyltransferase deficiency|Mat I/III deficiency|brain demyelination due to methionine adenosyltransferase deficiency|hypermethioninemia, isolated persistent|MAT I/III deficiency ordo_disease MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase biolink:Disease mondo OMIM:250800|GARD:0003909 http://identifiers.org/omim/250800 http://purl.obolibrary.org/obo/MONDO_0009606 NADH cytochrome B5 reductase deficiency|NADH methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|NADH-dependent methemoglobin reductase deficiency|NADH-cytochrome B5 reductase deficiency, type 2|NADH-cytochrome B5 reductase deficiency|methemoglobinemia, type 2|NADH-cytochrome B5 reductase deficiency, type 1|methemoglobinemia due to deficiency of methemoglobin reductase|methemoglobinemia, type 1|NADH diaphorase deficiency MONDO:0009605 methemoglobinemia type 4 biolink:Disease mondo UMLS:C2673427|MESH:C567102|OMIM:250790 Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene. UMLS:C2673427|MESH:C567102|http://identifiers.org/omim/250790 http://purl.obolibrary.org/obo/MONDO_0009605 methemoglobinemia and ambiguous genitalia|CYB5A methemoglobinemia|methemoglobinemia due to deficiency of cytochrome B5, formerly|methemoglobinemia due to deficiency of cytochrome B5|methemoglobinemia caused by mutation in CYB5A|methemoglobinemia and ambiguous genitalia; METAG|isolated 17,20-lyase deficiency, Pure|methemoglobinemia type IV, formerly|METAG|methemoglobinemia type IV MONDO:0009604 methemoglobin reductase deficiency biolink:Disease mondo OMIM:250700|MESH:C563171|SCTID:234397008|UMLS:C0472786 MESH:C563171|UMLS:C0472786|http://identifiers.org/omim/250700|SNOMEDCT:234397008 http://purl.obolibrary.org/obo/MONDO_0009604 TPNH-methemoglobin reductase deficiency|methemoglobin reductase deficiency|NADPH-dependent methemoglobin reductase deficiency MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency biolink:Disease mondo OMIM:250620|SCTID:722488009|MESH:C562803|GARD:0013202|Orphanet:88639|ICD10:E71.1 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. SNOMEDCT:722488009|MESH:C562803|ORPHA:88639|http://identifiers.org/omim/250620 http://purl.obolibrary.org/obo/MONDO_0009603 neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency|3-hydroxyisobutyryl-CoA hydrolase deficiency; HIBCHD|valine metabolic defect|beta-hydroxyisobutyryl Coa deacylase deficiency|methacrylic acid toxicity|HIBCH deficiency|3-hydroxyisobutyryl-CoA hydrolase deficiency|methacrylic aciduria|Beta-hydroxyisobutyryl-CoA deacylase deficiency|HIBCHD ordo_disease MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia biolink:Disease mondo OMIM:250500|GARD:0000217|MESH:C535875|UMLS:C1855164 MESH:C535875|http://identifiers.org/omim/250500|UMLS:C1855164 http://purl.obolibrary.org/obo/MONDO_0009602 Roy Maroteaux Kremp syndrome|metaphyseal modeling abnormality, skin lesions, and spastic paraplegia gard_rare MONDO:0009601 metaphyseal dysplasia without hypotrichosis biolink:Disease mondo UMLS:C1834821|OMIM:250460|GARD:0010622|MESH:C563574|Orphanet:1838 MESH:C563574|UMLS:C1834821|http://identifiers.org/omim/250460|ORPHA:1838 http://purl.obolibrary.org/obo/MONDO_0009601 cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|cartilage-hair hypoplasia variant, skeletal manifestations only|MDWH|metaphyseal dysplasia without hypotrichosis; MDWH|CHHV|metaphyseal dysplasia without hypotrichosis gard_rare MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy biolink:Disease mondo MESH:C565395|UMLS:C1855174|OMIM:250450 http://identifiers.org/omim/250450|UMLS:C1855174|MESH:C565395 http://purl.obolibrary.org/obo/MONDO_0009600 metaphyseal dysplasia, anetoderma, and optic atrophy UBERON:0018227 pulmonary lymphatic vessel biolink:AnatomicalEntity mondo A lymphatic vessel that is part of a lung. http://purl.obolibrary.org/obo/UBERON_0018227 lymphatic vessel of lung UBERON:0018226 pulmonary part of lymphatic system biolink:AnatomicalEntity mondo An organ system subdivision that is the part of the lymphoid system that includes the pulmonary lymphatic vessels. http://purl.obolibrary.org/obo/UBERON_0018226 pulmonary lymphatic vasculature|pulmonary lymphatic chain UBERON:0006245 humerus cartilage element biolink:AnatomicalEntity mondo A humerus endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0006245 humeral cartilage condensation UBERON:0006242 gall bladder primordium biolink:AnatomicalEntity mondo A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. http://purl.obolibrary.org/obo/UBERON_0006242 UBERON:0006241 future spinal cord biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006241 presumptive spinal cord neural keel|presumptive spinal cord|presumptive spinal cord neural rod|presumptive spinal cord neural plate UBERON:0006240 future forebrain biolink:AnatomicalEntity mondo A presumptive structure that has the potential to develop into a forebrain. http://purl.obolibrary.org/obo/UBERON_0006240 future prosencephalon|prosencephalon|presumptive prosencephalon|presumptive forebrain MONDO:0010600 granulomatous disease, chronic, X-linked biolink:Disease mondo OMIM:306400|DOID:0070195 http://identifiers.org/omim/306400|DOID:0070195 http://purl.obolibrary.org/obo/MONDO_0010600 granulomatous disease, chronic, X-linked|granulomatous disease, chronic, X-linked, variant|cytochrome B-negative granulomatous disease, chronic, X-linked|cytochrome B-positive granulomatous disease, chronic, X-linked|granulomatous disease, chronic, X-linked; CDGX|chronic granulomatous disease, atypical|chronic granulomatous disease, X-linked|granulomatous disease, chronic, X-linked; CGD|CDGX|CGD GO:0043933 protein-containing complex subunit organization biolink:OntologyClass mondo Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. http://purl.obolibrary.org/obo/GO_0043933 cellular macromolecular complex organization|protein complex subunit organisation|cellular macromolecular complex subunit organization|macromolecular complex subunit organisation|protein complex subunit organization|macromolecular complex organization|cellular macromolecular complex subunit organisation|macromolecular complex subunit organization GO:0043932 ossification involved in bone remodeling biolink:OntologyClass mondo The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli. http://purl.obolibrary.org/obo/GO_0043932 ossification involved in bone remodelling GO:0006909 phagocytosis biolink:OntologyClass mondo A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. http://purl.obolibrary.org/obo/GO_0006909 UBERON:0006247 iliac pre-cartilage condensation biolink:AnatomicalEntity mondo A iliac endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0006247 UBERON:0006246 humerus pre-cartilage condensation biolink:AnatomicalEntity mondo A humerus endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0006246 humeral pre-cartilage condensation HGNC:4651 GTF2E2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4651 MONDO:0009619 microcephaly-micromelia syndrome biolink:Disease mondo MESH:C565382|OMIM:251230|UMLS:C1855079 http://identifiers.org/omim/251230|UMLS:C1855079|MESH:C565382 http://purl.obolibrary.org/obo/MONDO_0009619 MIMIS|microcephaly-micromelia syndrome|microcephaly-micromelia syndrome; MIMIS GO:0006911 phagocytosis, engulfment biolink:OntologyClass mondo The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. http://purl.obolibrary.org/obo/GO_0006911 phagosome biosynthesis|phagosome formation MONDO:0009618 microcephaly-cardiomyopathy syndrome biolink:Disease mondo Orphanet:2515|OMIM:251220|ICD10:Q87.8|SCTID:719380003|UMLS:C1855080|MESH:C536711|GARD:0003609 Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. SNOMEDCT:719380003|UMLS:C0796061|http://identifiers.org/omim/251220|ORPHA:2515|MESH:C537324|UMLS:C1855080|MESH:C536711 http://purl.obolibrary.org/obo/MONDO_0009618 severe microcephaly with mental retardation and dilated cardiomyopathy|microcephaly-cardiomyopathy|Winship-Viljoen-Leary syndrome|severe microcephaly and self-limiting dilated cardiomyopathy|microcephaly with cardiomyopathy|severe microcephaly with intellectual disability and dilated cardiomyopathy ordo_malformation_syndrome MONDO:0009617 microcephaly 1, primary, autosomal recessive biolink:Disease mondo DOID:0070285|MESH:C565384|Orphanet:52183|OMIM:251200|UMLS:C1855081 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene. ORPHA:52183|DOID:0070285|http://identifiers.org/omim/251200|UMLS:C1855081|MESH:C565384 http://purl.obolibrary.org/obo/MONDO_0009617 autosomal recessive primary microcephaly caused by mutation in MCPH1|MCPH1 autosomal recessive primary microcephaly|premature chromosome condensation syndrome|PCC syndrome|microcephaly 1, primary, autosomal recessive; MCPH1|MCPH1|microcephaly 1, primary, autosomal recessive|premature chromosome condensation with microcephaly and mental retardation|premature chromosome condensation with microcephaly and intellectual disability MONDO:0009616 microcephalic primordial dwarfism, Toriello type biolink:Disease mondo UMLS:C1855089|ICD10:Q87.1|OMIM:251190|GARD:0003602|SCTID:715482004|MESH:C537321|Orphanet:2643 Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. http://identifiers.org/omim/251190|ORPHA:2643|MESH:C537321|UMLS:C1855089|SNOMEDCT:715482004 http://purl.obolibrary.org/obo/MONDO_0009616 microcephalic primordial dwarfism and cataracts|microcephalic primordial dwarfism, Toriello type|microcephalic primordial dwarfism Toriello type ordo_malformation_syndrome|gard_rare MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency biolink:Disease mondo ICD10:E71.1|OMIM:251120|SCTID:765137006|UMLS:C1855100|Orphanet:308425|MESH:C565386 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. ORPHA:308425|http://identifiers.org/omim/251120|UMLS:C1855100|MESH:C565386|SNOMEDCT:765137006 http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency|methylmalonyl-Coa racemase deficiency|MCEE deficiency|methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency|methylmalonyl-CoA epimerase deficiency|methylmalonic aciduria III, formerly|methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency|methylmalonic aciduria III|methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency ordo_disease NCBITaxon:4069 Solanales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4069 Solananae MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB biolink:Disease mondo GARD:0009479|DOID:0060743|ICD10:E71.1|UMLS:C1855102|NCIT:C142172|OMIM:251110|Orphanet:79311 An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. DOID:0060743|http://identifiers.org/omim/251110|MESH:C537361|UMLS:C1855102|ORPHA:79311|NCIT:C142172 http://purl.obolibrary.org/obo/MONDO_0009614 methylmalonic acidemia, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type|vitamin B12-responsive methylmalonic aciduria, type cblB|methylmalonic aciduria, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|methylmalonic acidemia cblB type|methylmalonic aciduria cblB type|vitamin B12-responsive methylmalonic acidemia type cblB ordo_clinical_subtype MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA biolink:Disease mondo UMLS:C0342722|GARD:0005500|UMLS:C0342721|UMLS:C1855109|DOID:0060742|ICD10:E71.1|SCTID:82245003|NCIT:C142171|SCTID:73843004|OMIM:251100|Orphanet:79310 An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. DOID:0060742|http://identifiers.org/omim/251100|SNOMEDCT:82245003|MESH:C537360|UMLS:C1855109|SNOMEDCT:73843004|ORPHA:79310|UMLS:C0342722|UMLS:C0342721|NCIT:C142171 http://purl.obolibrary.org/obo/MONDO_0009613 methylmalonic acidemia, cblA type|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type|MMA Cbl A type|methylmalonic aciduria cblA type|methylmalonic aciduria, cblA type|vitamin B12-responsive methylmalonic aciduria type cblA|cobalamin locus b variant|cblA methylmalonic acidemia|cobalamin locus a variant|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|cblB methylmalonic acidemia|cobalamin b disease|cblB - cobalamin locus b|cobalamin a disease|vitamin B12-responsive methylmalonic acidemia type cblA|cblA - cobalamin locus a|methylmalonic acidemia cblA type|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type ordo_clinical_subtype MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency biolink:Disease mondo Orphanet:27|NCIT:C148366|UMLS:C1855114|DOID:0060740|ICD10:E71.1|GARD:0003586|OMIM:251000 Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. DOID:0060740|ORPHA:27|http://identifiers.org/omim/251000|NCIT:C148366|UMLS:C1855114 http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria, mut type|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria, mut(0) type|vitamin B12-unresponsive methylmalonic aciduria|methylmalonic aciduria, mut(-) type|methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency|methylmalonyl-CoA mutase deficiency|methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency|MCM deficiency|methylmalonic aciduria mut type|methylmalonyl-Coenzyme A mutase deficiency|vitamin B12-unresponsive methylmalonic acidemia ordo_disease MONDO:0009611 3-methylglutaconic aciduria type 4 biolink:Disease mondo ICD10:E71.1|MESH:C565393|SCTID:297233004|OMIM:250951|UMLS:C0574085|UMLS:C1855126|GARD:0010342|DOID:0110006|Orphanet:67048 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). UMLS:C0574085|http://identifiers.org/omim/250951|UMLS:C1855126|ORPHA:67048|SNOMEDCT:297233004|MESH:C565393|DOID:0110006 http://purl.obolibrary.org/obo/MONDO_0009611 3-Methylglutaconic aciduria, type 4|Mga, type 4|Not otherwise specified 3-MGA-Uria type|3 methylglutaconic aciduria type IV|MGA4|3 alpha methylglutaconic aciduria type IV|3-METHYLGLUTACONIC aciduria, type IV; MGCA4|3-methylglutaconic aciduria type IV|3-METHYLGLUTACONIC aciduria, type IV|MGCA4|MGA type IV ordo_disease|gard_rare MONDO:0009610 3-methylglutaconic aciduria type 1 biolink:Disease mondo SCTID:237951008|DOID:0110002|MESH:C562801|OMIM:250950|ICD10:E71.1|NCIT:C98683|Orphanet:67046|UMLS:C0342728|UMLS:C0342727|GARD:0010321 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MESH:C562801|http://identifiers.org/omim/250950|SNOMEDCT:237951008|DOID:0110002|ORPHA:67046|UMLS:C0342727|UMLS:C0342728|NCIT:C98683 http://purl.obolibrary.org/obo/MONDO_0009610 3-METHYLGLUTACONIC aciduria, type I|3-Methylglutaconic aciduria, type 1|3-Mg-Coa-hydratase deficiency|3 methylglutaconyl CoA hydratase deficiency|3-methylglutaconic aciduria caused by mutation in AUH|3-methylglutaconic aciduria caused by mutation in auh|3 alpha methylglutaconic aciduria type I|Mga, type 1|3-MGCA type I (3-MGCA-1)|3-METHYLGLUTACONIC aciduria, type I; MGCA1|MGA1|MGA type I|AUH 3-methylglutaconic aciduria|3MG-CoA hydratase deficiency|auh 3-methylglutaconic aciduria|3MG CoA hydratase deficiency|3-methylglutaconyl-CoA hydratase deficiency (auh defect)|3-methylglutaconic aciduria type I|3-methylglutaconyl-Coa hydratase deficiency|3 methylglutaconic aciduria type 1|MGCA1|3-methylglutaconyl-CoA hydratase deficiency ordo_disease NCBITaxon:4070 Solanaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4070 nightshade family UBERON:0006234 femur pre-cartilage condensation biolink:AnatomicalEntity mondo A femur endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0006234 femoral pre-cartilage condensation UBERON:0008897 fin biolink:AnatomicalEntity mondo An external projection of an aquatic animal as a fish used in propelling or guiding the body[BTO]. http://purl.obolibrary.org/obo/UBERON_0008897 fins UBERON:0006233 female genital tubercle biolink:AnatomicalEntity mondo A differentiated genital tubercle that is part of a female reproductive system. http://purl.obolibrary.org/obo/UBERON_0006233 genital tubercle of female UBERON:0006232 facio-acoustic VII-VIII preganglion complex biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006232 facio-acoustic preganglion complex UBERON:0006230 extrinsic ocular pre-muscle mass biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006230 UBERON:0006239 future central tendon biolink:AnatomicalEntity mondo A tendon that has the potential to develop into a central tendon. http://purl.obolibrary.org/obo/UBERON_0006239 cranial derivative of septum transversum|cranial part of septum transversum UBERON:0006238 future brain biolink:AnatomicalEntity mondo The embryonic precursor of the brain. http://purl.obolibrary.org/obo/UBERON_0006238 encephalon|presumptive brain|brain rudiment|embryonic brain UBERON:0008895 splanchnocranium biolink:AnatomicalEntity mondo Subdivision of endoskeleton derived from pharyngeal arches http://purl.obolibrary.org/obo/UBERON_0008895 viscerocranium|gill arch skeleton|branchial arch skeleton|pharyngeal skeleton|visceral skeleton|visceral skeletal system|visceral cranium|pharyngeal endoskeleton|pharyngeal arch|pharyngeal arch skeleton GO:0006915 apoptotic process biolink:OntologyClass mondo A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/GO_0006915 apoptosis|type I programmed cell death|signaling (initiator) caspase activity|cell suicide|apoptosis activator activity|apoptotic cell death|caspase-dependent programmed cell death|commitment to apoptosis|induction of apoptosis|apoptosis signaling|apoptotic programmed cell death|cellular suicide|apoptotic program|programmed cell death by apoptosis|induction of apoptosis by p53|activation of apoptosis UBERON:0008896 post-hyoid pharyngeal arch biolink:AnatomicalEntity mondo A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher. http://purl.obolibrary.org/obo/UBERON_0008896 visceral arches 3-7|branchial bar|branchial arch|gill arch|branchial arches|gill bar|branchial bars|pharyngeal arch 3-7|gill arches 1-5 UBERON:0006235 foregut-midgut junction biolink:AnatomicalEntity mondo An anatomical junctions that overlaps the foregut and midgut. http://purl.obolibrary.org/obo/UBERON_0006235 CHEBI:65296 primary ammonium ion biolink:ChemicalSubstance mondo An ammonium ion derivative resulting from the protonation of the nitrogen atom of a primary amino compound. Major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_65296 a primary amine|substituted ammonium UBERON:0008886 pulmonary vascular system biolink:AnatomicalEntity mondo The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. http://purl.obolibrary.org/obo/UBERON_0008886 pulmonary circulatory system|pulmonary system UBERON:0008887 rectal venous plexus biolink:AnatomicalEntity mondo The hemorrhoidal plexus (or rectal venous plexus) surrounds the rectum, and communicates in front with the vesical venous plexus in the male, and the uterovaginal plexus in the female. A free communication between the portal and systemic venous systems is established through the hemorrhoidal plexus. http://purl.obolibrary.org/obo/UBERON_0008887 plexus venosus rectalis|plexus haemorrhoidalis|haemorrhoidal plexus|hemorrhoidal plexus UBERON:0006222 future diencephalon biolink:AnatomicalEntity mondo The foremost region of the future forebrain that develops into the diencephalon. http://purl.obolibrary.org/obo/UBERON_0006222 presumptive diencephalon CL:0008024 pancreatic endocrine cell biolink:Cell mondo An endocrine cell that is part of the pancreas. http://purl.obolibrary.org/obo/CL_0008024 HGNC:4679 GUCA1B biolink:OntologyClass mondo http://identifiers.org/hgnc/4679 HGNC:4678 GUCA1A biolink:OntologyClass mondo http://identifiers.org/hgnc/4678 CHEBI:16277 haloacetic acid biolink:ChemicalSubstance mondo A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom. http://purl.obolibrary.org/obo/CHEBI_16277 UBERON:0006227 ethmoid bone primordium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006227 UBERON:0008882 spinal cord commissure biolink:AnatomicalEntity mondo The nerve fiber tracts that span the midline of the spinal cord http://purl.obolibrary.org/obo/UBERON_0008882 UBERON:0008883 osteoid biolink:AnatomicalEntity mondo Bone tissue that is an unmineralized bone matrix deposited by osteoblasts prior to the mineralization of bone tissue. http://purl.obolibrary.org/obo/UBERON_0008883 prebone|osteoid tissue|prebone tissue|pre-bone UBERON:0006226 endolymphatic appendage biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006226 UBERON:0006224 elbow joint primordium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006224 HGNC:2019 CLCN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2019 HGNC:2020 CLCN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2020 UBERON:0008876 hypodermis skeletal muscle layer biolink:AnatomicalEntity mondo Any skeletal muscle organ in the hypodermis / superficial fascia http://purl.obolibrary.org/obo/UBERON_0008876 panniculus carnosus|superficial fascia muscular layer|hypodermis muscle layer|hypodermal muscle layer UBERON:0006211 buccopharyngeal membrane biolink:AnatomicalEntity mondo The thin bilaminar membrane derived from the prechordal plate that is devoid of mesoderm and formed by the apposition of the stomodeal ectoderm with the foregut endoderm; after the embryonic head fold has evolved it lies at the caudal limit of the stomodeum, forming a septum between the primitive mouth and pharynx; the membrane eventually disappears, and thus a communication is established between the mouth and the future pharynx. http://purl.obolibrary.org/obo/UBERON_0006211 pharyngeal membrane|oral membrane|oral plate|oropharyngeal membrane UBERON:0006210 body-wall mesenchyme biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006210 UBERON:0008878 palmar part of manus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0008878 palm of hand|regio palmaris|palm|palmar region|front of hand NCBITaxon:123368 Acanthomorphata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_123368 Acanthomorpha HGNC:2026 CLCNKA biolink:OntologyClass mondo http://identifiers.org/hgnc/2026 UBERON:0006218 common atrial chamber biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006218 HGNC:4689 GUCY2D biolink:OntologyClass mondo http://identifiers.org/hgnc/4689 UBERON:0008870 pulmonary alveolar parenchyma biolink:AnatomicalEntity mondo The distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages http://purl.obolibrary.org/obo/UBERON_0008870 UBERON:0006217 cloacal membrane biolink:AnatomicalEntity mondo The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. http://purl.obolibrary.org/obo/UBERON_0006217 membrana cloacalis|embryonic cloacal membrane HGNC:2027 CLCNKB biolink:OntologyClass mondo http://identifiers.org/hgnc/2027 HGNC:4688 GUCY2C biolink:OntologyClass mondo http://identifiers.org/hgnc/4688 NCBITaxon:123365 Neoteleostei organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_123365 UBERON:0006215 rhombic lip biolink:AnatomicalEntity mondo the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system http://purl.obolibrary.org/obo/UBERON_0006215 cerebellar primordium|future cerebellum|rostral rhombic lip|dorsal part of alar plate of metencephalon|cerebellar anlage|cerebellum primordium|presumptive cerebellum HGNC:2025 CLCN7 biolink:OntologyClass mondo http://identifiers.org/hgnc/2025 HGNC:2022 CLCN4 biolink:OntologyClass mondo http://identifiers.org/hgnc/2022 UBERON:0006214 carpus pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that has the potential to develop into a carpal bone. http://purl.obolibrary.org/obo/UBERON_0006214 carpal pre-cartilage condensation NCBITaxon:123366 Eurypterygia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_123366 Eurypterygii HGNC:4685 GUCY1A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4685 NCBITaxon:123367 Ctenosquamata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_123367 UBERON:0008874 pulmonary acinus biolink:AnatomicalEntity mondo The part of the airway consisting of a respiratory bronchiole and all of its branches http://purl.obolibrary.org/obo/UBERON_0008874 respiratory lobule|arbor alveolaris|acinus pulmonaris|lobulus pulmonis primarius|primary pulmonary lobule UBERON:0006213 carpus cartilage element biolink:AnatomicalEntity mondo A cartilaginous condensation that has the potential to develop into a carpal bone. http://purl.obolibrary.org/obo/UBERON_0006213 carpal cartilage condensation CL:0008034 mural cell biolink:Cell mondo Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. http://purl.obolibrary.org/obo/CL_0008034 HGNC:2023 CLCN5 biolink:OntologyClass mondo http://identifiers.org/hgnc/2023 ENVO:01001008 meteor biolink:OntologyClass mondo A meteor is any matter- or energy-based entity which is located in the atmosphere of an astronomical body. http://purl.obolibrary.org/obo/ENVO_01001008 GO:0090283 regulation of protein glycosylation in Golgi biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. http://purl.obolibrary.org/obo/GO_0090283 regulation of protein amino acid glycosylation in Golgi GO:0004363 glutathione synthase activity biolink:OntologyClass mondo Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H(+) + phosphate. http://purl.obolibrary.org/obo/GO_0004363 glutathione synthetase activity|GSH synthetase activity|gamma-L-glutamyl-L-cysteine:glycine ligase (ADP-forming) ENVO:01001000 environmental system determined by an organism biolink:OntologyClass mondo An environmental system which is determined by a living organism. http://purl.obolibrary.org/obo/ENVO_01001000 host-associated environment GO:0031982 vesicle biolink:OntologyClass mondo Any small, fluid-filled, spherical organelle enclosed by membrane. http://purl.obolibrary.org/obo/GO_0031982 membrane-bounded vesicle|membrane-enclosed vesicle ENVO:01001002 animal-associated environment biolink:OntologyClass mondo An environmental system determined by an animal. http://purl.obolibrary.org/obo/ENVO_01001002 animal environment|Metazoan-associated environment GO:0090284 positive regulation of protein glycosylation in Golgi biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. http://purl.obolibrary.org/obo/GO_0090284 positive regulation of protein amino acid glycosylation in Golgi GO:0031981 nuclear lumen biolink:OntologyClass mondo The volume enclosed by the nuclear inner membrane. http://purl.obolibrary.org/obo/GO_0031981 ENVO:01001001 plant-associated environment biolink:OntologyClass mondo An environmental system determined by a green plant. http://purl.obolibrary.org/obo/ENVO_01001001 Viridiplantae-associated environment|plant environment GO:0090285 negative regulation of protein glycosylation in Golgi biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. http://purl.obolibrary.org/obo/GO_0090285 negative regulation of protein amino acid glycosylation in Golgi HGNC:23399 FREM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23399 GO:0031975 envelope biolink:OntologyClass mondo A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers. http://purl.obolibrary.org/obo/GO_0031975 GO:0031974 membrane-enclosed lumen biolink:OntologyClass mondo The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. http://purl.obolibrary.org/obo/GO_0031974 HP:0025408 Abnormal spleen morphology biolink:PhenotypicFeature mondo Any anomaly of the structure of the spleen. http://purl.obolibrary.org/obo/HP_0025408 GO:0004370 glycerol kinase activity biolink:OntologyClass mondo Catalysis of the reaction: ATP + glycerol = sn-glycerol 3-phosphate + ADP + 2 H(+). http://purl.obolibrary.org/obo/GO_0004370 GK|glyceric kinase activity|ATP:glycerol-3-phosphotransferase activity|ATP:glycerol 3-phosphotransferase activity|glycerokinase activity|glycerol kinase (phosphorylating) HP:0001450 Y-linked inheritance biolink:PhenotypicFeature mondo UMLS:C0814045|MSH:D050173 A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. http://purl.obolibrary.org/obo/HP_0001450 GO:0004348 glucosylceramidase activity biolink:OntologyClass mondo Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine. http://purl.obolibrary.org/obo/GO_0004348 beta-glucosylceramidase activity|glucocerebrosidase activity|D-glucosyl-N-acylsphingosine glucohydrolase activity|glucosylcerebrosidase activity|glucosphingosine glucosylhydrolase activity|acid beta-glucosidase activity|psychosine hydrolase activity|beta-D-glucocerebrosidase activity|glucosylsphingosine beta-glucosidase activity|GlcCer-beta-glucosidase activity|ceramide glucosidase activity|beta-glucocerebrosidase activity|glucosylsphingosine beta-D-glucosidase activity GO:0031966 mitochondrial membrane biolink:OntologyClass mondo Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. http://purl.obolibrary.org/obo/GO_0031966 GO:0031967 organelle envelope biolink:OntologyClass mondo A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes. http://purl.obolibrary.org/obo/GO_0031967 GO:0004345 glucose-6-phosphate dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+. http://purl.obolibrary.org/obo/GO_0004345 NADP-dependent glucose 6-phosphate dehydrogenase activity|zwischenferment|G6PD activity|Zwischenferment|Entner-doudoroff enzyme|GDH|G6PDH|glucose 6-phosphate dehydrogenase (NADP) activity|6-phosphoglucose dehydrogenas|NADP-glucose-6-phosphate dehydrogenase activity|6-phosphoglucose dehydrogenase activity|glucose-6-phosphate 1-dehydrogenase activity|D-glucose 6-phosphate dehydrogenase activity|D-glucose-6-phosphate:NADP+ 1-oxidoreductase activity ENVO:01001026 electromagnetic radiation biolink:OntologyClass mondo A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. http://purl.obolibrary.org/obo/ENVO_01001026 EM radiation GO:0004347 glucose-6-phosphate isomerase activity biolink:OntologyClass mondo Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate. http://purl.obolibrary.org/obo/GO_0004347 phosphoglucose isomerase activity|hexose phosphate isomerase activity|hexose monophosphate isomerase activity|phosphohexose isomerase activity|phosphohexoisomerase activity|D-glucose-6-phosphate ketol-isomerase activity|oxoisomerase activity|glucose phosphate isomerase activity|D-glucose-6-phosphate aldose-ketose-isomerase activity|hexosephosphate isomerase activity|phosphosaccharomutase activity|phosphohexomutase activity|phosphoglucoisomerase activity GO:0004346 glucose-6-phosphatase activity biolink:OntologyClass mondo Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. http://purl.obolibrary.org/obo/GO_0004346 D-glucose-6-phosphate phosphohydrolase activity|glucose 6-phosphate phosphatase activity NCBITaxon:4081 Solanum lycopersicum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4081 Lycopersicon esculentum var. esculentum|Lycopersicon esculentum|Solanum lycopersicum var. humboldtii|tomato|Solanum esculentum HGNC:11389 STK11 biolink:OntologyClass mondo http://identifiers.org/hgnc/11389 HP:0001423 X-linked dominant inheritance biolink:PhenotypicFeature mondo UMLS:C1847879 A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. http://purl.obolibrary.org/obo/HP_0001423 X-linked dominant ENVO:01001022 natural lake biolink:OntologyClass mondo A lake which has formed as the result of processes that are not or are only minimally driven by human activity. http://purl.obolibrary.org/obo/ENVO_01001022 ENVO:01001023 radiation biolink:OntologyClass mondo A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. http://purl.obolibrary.org/obo/ENVO_01001023 HGNC:11386 STIM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11386 GO:0004357 glutamate-cysteine ligase activity biolink:OntologyClass mondo Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H(+) + phosphate. http://purl.obolibrary.org/obo/GO_0004357 L-glutamate:L-cysteine gamma-ligase (ADP-forming) activity|gamma-glutamylcysteinyl synthetase activity|gamma-glutamylcysteine synthetase activity|gamma-glutamyl-L-cysteine synthetase activity GO:0004351 glutamate decarboxylase activity biolink:OntologyClass mondo Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2. http://purl.obolibrary.org/obo/GO_0004351 L-aspartate-alpha-decarboxylase activity|L-glutamic acid decarboxylase activity|L-glutamate alpha-decarboxylase activity|L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming)|aspartic alpha-decarboxylase|cysteic acid decarboxylase activity|L-glutamate 1-carboxy-lyase activity|L-glutamic decarboxylase activity|gamma-glutamate decarboxylase activity HP:0001438 Abnormal abdomen morphology biolink:PhenotypicFeature mondo UMLS:C4020869 A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. http://purl.obolibrary.org/obo/HP_0001438 Abdomen abnormality|Abnormality of abdomen morphology|Abnormality of the abdomen|Abnormality of abdomen structure HP:0001433 Hepatosplenomegaly biolink:PhenotypicFeature mondo SNOMEDCT_US:36760000|UMLS:C0019214 Simultaneous enlargement of the liver and spleen. http://purl.obolibrary.org/obo/HP_0001433 Enlarged liver and spleen GO:0090275 negative regulation of somatostatin secretion biolink:OntologyClass mondo Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. http://purl.obolibrary.org/obo/GO_0090275 GO:0016331 morphogenesis of embryonic epithelium biolink:OntologyClass mondo The process in which the anatomical structures of embryonic epithelia are generated and organized. http://purl.obolibrary.org/obo/GO_0016331 ENVO:01001010 hydrometeor biolink:OntologyClass mondo A meteor which is primarily composed of water. http://purl.obolibrary.org/obo/ENVO_01001010 GO:0090276 regulation of peptide hormone secretion biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. http://purl.obolibrary.org/obo/GO_0090276 GO:0090273 regulation of somatostatin secretion biolink:OntologyClass mondo Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. http://purl.obolibrary.org/obo/GO_0090273 HGNC:11391 AURKC biolink:OntologyClass mondo http://identifiers.org/hgnc/11391 ENVO:01001012 lithometeor biolink:OntologyClass mondo A meteor which is primarily composed of rock. http://purl.obolibrary.org/obo/ENVO_01001012 GO:0090274 positive regulation of somatostatin secretion biolink:OntologyClass mondo Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. http://purl.obolibrary.org/obo/GO_0090274 HGNC:11397 PLK4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11397 GO:0090277 positive regulation of peptide hormone secretion biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. http://purl.obolibrary.org/obo/GO_0090277 GO:0090278 negative regulation of peptide hormone secretion biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. http://purl.obolibrary.org/obo/GO_0090278 GO:0031946 regulation of glucocorticoid biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. http://purl.obolibrary.org/obo/GO_0031946 GO:0031947 negative regulation of glucocorticoid biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. http://purl.obolibrary.org/obo/GO_0031947 down regulation of glucocorticoid biosynthetic process|inhibition of glucocorticoid biosynthetic process|downregulation of glucocorticoid biosynthetic process|down-regulation of glucocorticoid biosynthetic process GO:0031944 negative regulation of glucocorticoid metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. http://purl.obolibrary.org/obo/GO_0031944 negative regulation of glucocorticoid metabolism|downregulation of glucocorticoid metabolic process|down regulation of glucocorticoid metabolic process|inhibition of glucocorticoid metabolic process|down-regulation of glucocorticoid metabolic process GO:0031945 positive regulation of glucocorticoid metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. http://purl.obolibrary.org/obo/GO_0031945 stimulation of glucocorticoid metabolic process|up regulation of glucocorticoid metabolic process|up-regulation of glucocorticoid metabolic process|activation of glucocorticoid metabolic process|positive regulation of glucocorticoid metabolism|upregulation of glucocorticoid metabolic process GO:0031943 regulation of glucocorticoid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. http://purl.obolibrary.org/obo/GO_0031943 regulation of glucocorticoid metabolism UBERON:0008817 thymus primordium endoderm biolink:AnatomicalEntity mondo An endoderm that is part of a thymus primordium. http://purl.obolibrary.org/obo/UBERON_0008817 UBERON:0008819 inferior mediastinum biolink:AnatomicalEntity mondo Anterior, middle and posterior mediastinum. http://purl.obolibrary.org/obo/UBERON_0008819 inferior mediastinal part of chest GO:0031948 positive regulation of glucocorticoid biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. http://purl.obolibrary.org/obo/GO_0031948 up-regulation of glucocorticoid biosynthetic process|up regulation of glucocorticoid biosynthetic process|activation of glucocorticoid biosynthetic process|stimulation of glucocorticoid biosynthetic process|upregulation of glucocorticoid biosynthetic process HGNC:11367 STAT5B biolink:OntologyClass mondo http://identifiers.org/hgnc/11367 UBERON:0008822 posterior mediastinum biolink:AnatomicalEntity mondo The posterior mediastinum is an irregular triangular space running parallel with the vertebral column. http://purl.obolibrary.org/obo/UBERON_0008822 posterior mediastinal part of chest|mediastinum posterius HGNC:11365 STAT4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11365 UBERON:0008823 neural tube derived brain biolink:AnatomicalEntity mondo A brain that develops_from a neural tube. http://purl.obolibrary.org/obo/UBERON_0008823 vertebrate brain UBERON:0008824 duct of epididymis biolink:AnatomicalEntity mondo Any duct branching of of the main epididymis duct. http://purl.obolibrary.org/obo/UBERON_0008824 epididymis duct|epididymal duct GO:0016301 kinase activity biolink:OntologyClass mondo Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_0016301 phosphokinase activity HP:0001482 Subcutaneous nodule biolink:PhenotypicFeature mondo UMLS:C0151811|UMLS:C0746926|SNOMEDCT_US:95325000 Slightly elevated lesions on or in the skin with a diameter of over 5 mm. http://purl.obolibrary.org/obo/HP_0001482 Growth of abnormal tissue under the skin|Firm lump under the skin|Nodule below the skin|Subcutaneous nodules|Multiple, subcutaneous nodules hposlim_core HGNC:11364 STAT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11364 HGNC:11363 STAT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11363 HP:0001480 Freckling biolink:PhenotypicFeature mondo SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|MSH:D008548|UMLS:C0016689 The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. http://purl.obolibrary.org/obo/HP_0001480 Freckling HGNC:11362 STAT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11362 GO:0004339 glucan 1,4-alpha-glucosidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose. http://purl.obolibrary.org/obo/GO_0004339 1,4-alpha-D-glucan glucohydrolase activity|amyloglucosidase activity|gamma-1,4-glucan glucohydrolase activity|glucose amylase activity|glucoamylase activity|lysosomal alpha-glucosidase activity|exo-1,4-alpha-glucosidase activity|gamma-amylase activity GO:0006997 nucleus organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus. http://purl.obolibrary.org/obo/GO_0006997 nuclear organization and biogenesis|nucleus organization and biogenesis|nuclear organisation|nuclear morphology|nuclear organization GO:0004336 galactosylceramidase activity biolink:OntologyClass mondo Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine. http://purl.obolibrary.org/obo/GO_0004336 beta-galactosylceramidase activity|galactocerebrosidase activity|ceramide galactosidase activity|galactosylceramide beta-galactosidase activity|galactosylceramidase I|D-galactosyl-N-acylsphingosine galactohydrolase activity|cerebroside galactosidase activity|galcerase activity|galactocerebroside beta-galactosidase activity|galactocerebroside galactosidase activity|cerebroside beta-galactosidase activity|galactosylcerebrosidase activity|lactosylceramidase activity|galactocerebroside-beta-D-galactosidase activity|lactosylceramidase I|beta-galactocerebrosidase activity GO:0006996 organelle organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0006996 single organism organelle organization|single-organism organelle organization|organelle organization and biogenesis|organelle organisation GO:0004332 fructose-bisphosphate aldolase activity biolink:OntologyClass mondo Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde-3-phosphate. http://purl.obolibrary.org/obo/GO_0004332 D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase activity|1,6-diphosphofructose aldolase activity|fructoaldolase activity|aldolase activity|fructose 1-phosphate aldolase activity|ketose 1-phosphate aldolase activity|fructose 1-monophosphate aldolase activity|D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase (glycerone-phosphate-forming)|zymohexase activity|fructose-1,6-bisphosphate triosephosphate-lyase activity|fructose diphosphate aldolase activity|phosphofructoaldolase activity|SMALDO|fructose 1,6-diphosphate aldolase activity|diphosphofructose aldolase activity UBERON:0008810 nasopalatine nerve biolink:AnatomicalEntity mondo A branch of that maxillary nerve that innervates the mucous membrane of the hard palate. http://purl.obolibrary.org/obo/UBERON_0008810 nasopalatine nerves|nasopalatine|Scarpa's nerve|nervus nasopalatinus|naso-palatine nerve UBERON:0008811 intromittent organ biolink:AnatomicalEntity mondo An external organ of a male organism that is specialized to deliver sperm during copulation. Intromittent organs are found most often in terrestrial species, as most aquatic species fertilize their eggs externally, although there are exceptions[WP]. http://purl.obolibrary.org/obo/UBERON_0008811 aedeagus|penis|copulatory organ UBERON:0008814 pharyngeal arch system biolink:AnatomicalEntity mondo A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. http://purl.obolibrary.org/obo/UBERON_0008814 pharyngeal complex|pharyngeal arches and clefts|pharyngeal arch region|embryonic pharyngeal complex|pharyngeal apparatus|pharyngeal arch complex|pharyngeal system UBERON:0008816 embryonic head biolink:AnatomicalEntity mondo A head that is part of a embryo. http://purl.obolibrary.org/obo/UBERON_0008816 GO:0016310 phosphorylation biolink:OntologyClass mondo The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. http://purl.obolibrary.org/obo/GO_0016310 GO:0016311 dephosphorylation biolink:OntologyClass mondo The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. http://purl.obolibrary.org/obo/GO_0016311 GO:0006968 cellular defense response biolink:OntologyClass mondo A defense response that is mediated by cells. http://purl.obolibrary.org/obo/GO_0006968 intracellular defense response|intracellular defence response|cellular defence response HGNC:25985 PIGG biolink:OntologyClass mondo http://identifiers.org/hgnc/25985 UBERON:0008801 parotid gland primordium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0008801 UBERON:0008803 skin of cheek biolink:AnatomicalEntity mondo A zone of skin that is part of a cheek. http://purl.obolibrary.org/obo/UBERON_0008803 cheek skin UBERON:0008805 gingival groove biolink:AnatomicalEntity mondo The gingival sulcus is an area of potential space between a tooth and the surrounding gingival tissue and is lined by sulcular epithelium. The depth of the sulcus (Latin for groove) is bounded by two entities: apically by the gingival fibers of the connective tissue attachment and coronally by the free gingival margin. http://purl.obolibrary.org/obo/UBERON_0008805 sulcus gingivalis|gingival sulcus|sulcus gingivalis|tooth-gingiva interface GO:0006974 cellular response to DNA damage stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. http://purl.obolibrary.org/obo/GO_0006974 DNA damage response|cellular DNA damage response|response to genotoxic stress|response to DNA damage stimulus HGNC:23338 ACBD5 biolink:OntologyClass mondo http://identifiers.org/hgnc/23338 HGNC:25994 NSUN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/25994 HGNC:11356 STAG3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11356 GO:0018958 phenol-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. http://purl.obolibrary.org/obo/GO_0018958 hydroxybenzene metabolism|carbolic acid metabolic process|phenol-containing compound metabolism|carbolic acid metabolism|hydroxybenzene metabolic process HP:0025423 Abnormal larynx morphology biolink:PhenotypicFeature mondo Any anomaly of the structure of the larynx. http://purl.obolibrary.org/obo/HP_0025423 HGNC:11354 STAG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11354 HP:0025426 Abnormal bronchus morphology biolink:PhenotypicFeature mondo Any anomaly of the morphology of the bronchi. http://purl.obolibrary.org/obo/HP_0025426 Abnormality of the bronchi HGNC:11359 STAR biolink:OntologyClass mondo http://identifiers.org/hgnc/11359 HGNC:4601 GRN biolink:OntologyClass mondo http://identifiers.org/hgnc/4601 MONDO:0022462 anophthalmia esophageal atresia cryptorchidism biolink:Disease mondo GARD:0000716 A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. http://purl.obolibrary.org/obo/MONDO_0022462 n_of_one|gard_rare MONDO:0022463 obsolete anophthalmia megalocornea cardiopathy skeletal anomalies biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022463 MONDO:0022464 obsolete anophthalmia microcephaly hypogonadism biolink:Disease mondo GARD:0000718 http://purl.obolibrary.org/obo/MONDO_0022464 MONDO:0022465 anotia facial palsy cardiac defect biolink:Disease mondo GARD:0000725 A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot. http://purl.obolibrary.org/obo/MONDO_0022465 gard_rare MONDO:0022468 antigen-peptide-transporter 2 deficiency biolink:Disease mondo GARD:0000732 An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections. http://purl.obolibrary.org/obo/MONDO_0022468 TAP 2 deficiency|antigen processing (TAP) deficiency syndrome gard_rare MONDO:0022469 obsolete aortic arches defect biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022469 MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type biolink:Disease mondo OMIM:244850|ICD10:Q82.8|MESH:C565454|Orphanet:86923|SCTID:717228004 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. SNOMEDCT:717228004|ORPHA:86923|MESH:C565454|http://identifiers.org/omim/244850 http://purl.obolibrary.org/obo/MONDO_0009489 palmoplantar keratoderma, Norrbotten recessive type; PPKNR|PPK, Gamborg-Nielsen type|hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type|PPKNR|palmoplantar keratoderma, Norrbotten recessive type ordo_disease MONDO:0009488 keratoconus posticus circumscriptus biolink:Disease mondo OMIM:244600|UMLS:C1855645|GARD:0003091 http://identifiers.org/omim/244600|UMLS:C1855645 http://purl.obolibrary.org/obo/MONDO_0009488 keratoconus posticus CIRCUMSCRIPTUS; KPC|keratoconus posticus circumscriptus|KPC|Kpc with associated malformations gard_rare HP:0001608 Abnormality of the voice biolink:PhenotypicFeature mondo UMLS:C4021776 http://purl.obolibrary.org/obo/HP_0001608 Voice abnormality|Abnormality of the voice MONDO:0009487 keratoconus and congenital hip dysplasia biolink:Disease mondo UMLS:C1855647|OMIM:244510|MESH:C565456 http://identifiers.org/omim/244510|MESH:C565456|UMLS:C1855647 http://purl.obolibrary.org/obo/MONDO_0009487 keratoconus and congenital hip dysplasia HP:0001609 Hoarse voice biolink:PhenotypicFeature mondo SNOMEDCT_US:50219008|UMLS:C0019825|MSH:D006685|UMLS:C1854348 Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. http://purl.obolibrary.org/obo/HP_0001609 Husky voice|Hoarseness|Hoarse voice MONDO:0009486 autosomal recessive Kenny-Caffey syndrome biolink:Disease mondo UMLS:C1855648|ICD10:Q87.1|OMIM:244460|GARD:0008367|NCIT:C130992|Orphanet:93324|MESH:C537021 An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. MESH:C537021|http://identifiers.org/omim/244460|UMLS:C1855648|NCIT:C130992|ORPHA:93324 http://purl.obolibrary.org/obo/MONDO_0009486 Kenny-Caffey syndrome, type 1|Kcs|Kenny-Caffey syndrome, type 1; KCS1|KCS1|Kenny-Caffey syndrome type 1|Kenny-Caffey syndrome, autosomal recessive gard_rare|ordo_etiological_subtype MONDO:0022460 obsolete anophthalmia cleft lip palate hypothalamic disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022460 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type biolink:Disease mondo OMIM:244450|Orphanet:2707|GARD:0003084|SCTID:722056009|MESH:C537013|ICD10:Q87.0|UMLS:C1855663 MESH:C537013|ORPHA:2707|http://identifiers.org/omim/244450|UMLS:C1855663|SNOMEDCT:722056009 http://purl.obolibrary.org/obo/MONDO_0009485 Kaufman oculocerebrofacial syndrome|Kaufman oculocerebrofacial syndrome; kos|blepharophimosis-ptosis-intellectual disability syndrome|severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet|blepharophimosis-ptosis-intellectual disability syndrome; BPIDS|KOS|severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet ordo_malformation_syndrome MONDO:0022461 anophthalmia cleft palate micrognathia biolink:Disease mondo GARD:0000715 A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes. http://purl.obolibrary.org/obo/MONDO_0022461 gard_rare HP:0001607 Subglottic stenosis biolink:PhenotypicFeature mondo SNOMEDCT_US:22668006|UMLS:C0238441 http://purl.obolibrary.org/obo/HP_0001607 MONDO:0009484 primary ciliary dyskinesia 1 biolink:Disease mondo ICD10:Q34.8|OMIM:244400|Orphanet:98861|DOID:0110594 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene. http://identifiers.org/omim/244400|ORPHA:98861|DOID:0110594 http://purl.obolibrary.org/obo/MONDO_0009484 immotile cilia syndrome|ciliary dyskinesia, primary, 1|Kartagener syndrome|PCD|ciliary dyskinesia, primary, 1; CILD1|DNAI1 primary ciliary dyskinesia|dextrocardia, bronchiectasis, and sinusitis|ciliary dyskinesia, primary, 1, with or without situs inversus|Polynesian bronchiectasis|primary ciliary dyskinesia caused by mutation in DNAI1|primary ciliary dyskinesia type 1|CILD1|primary ciliary dyskinesia 1 with or without situs inversus|Siewert syndrome|ciliary dyskinesia, primary, type 1 MONDO:0010484 deafness, X-linked 6 biolink:Disease mondo UMLS:C3806737|OMIM:300914 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene. UMLS:C3806737|http://identifiers.org/omim/300914 http://purl.obolibrary.org/obo/MONDO_0010484 COL4A6 X-linked nonsyndromic deafness|DFNX6|deafness, X-linked 6; DFNX6|X-linked nonsyndromic deafness caused by mutation in COL4A6|deafness, X-linked type 6|deafness, X-linked 6 clingen HGNC:11445 STXBP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11445 MONDO:0010483 X-linked intellectual disability, Cantagrel type biolink:Disease mondo Orphanet:85277|OMIM:300912|UMLS:C3806730|SCTID:719016007|ICD10:Q87.8 X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. UMLS:C3806730|http://identifiers.org/omim/300912|ORPHA:85277|SNOMEDCT:719016007 http://purl.obolibrary.org/obo/MONDO_0010483 intellectual disability, X-linked 98; MRX98|intellectual disability, X-linked type 98|intellectual disability, X-linked 98|mental retardation, X-linked 98|mental retardation, X-linked 98; MRX98|MRX98|mental retardation, X-linked type 98 ordo_malformation_syndrome MONDO:0009483 kapur-Toriello syndrome biolink:Disease mondo SCTID:722031003|Orphanet:2328|GARD:0003078|OMIM:244300|ICD10:Q87.8|UMLS:C0796005|MESH:C537008 Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. ORPHA:2328|MESH:C537008|http://identifiers.org/omim/244300|SNOMEDCT:722031003|UMLS:C0796005 http://purl.obolibrary.org/obo/MONDO_0009483 long columella with cleft Lip/palate and eye, heart, and intestinal anomalies|cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome|kapur Toriello syndrome|kapur-Toriello syndrome|long columella with cleft lip/palate and eye, heart and intestinal anomalies gard_rare|ordo_malformation_syndrome HGNC:11444 STXBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11444 MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia biolink:Disease mondo UMLS:C3550478|OMIM:244200|DOID:0090092|GARD:0003073|ICD10:E23.0 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene. http://identifiers.org/omim/244200|DOID:0090092|UMLS:C3550478 http://purl.obolibrary.org/obo/MONDO_0009482 KAL3|HH3|hypogonadotropic hypogonadism 3 with or without anosmia; HH3|Kallmann syndrome 3|hypogonadotropic hypogonadism 3 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in PROKR2|PROKR2 hypogonadotropic hypogonadism MONDO:0010486 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked biolink:Disease mondo UMLS:C3806745|OMIM:300918 UMLS:C3806745|http://identifiers.org/omim/300918 http://purl.obolibrary.org/obo/MONDO_0010486 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked|Olmsted syndrome, X-linked MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome biolink:Disease mondo ICD10:Q87.0|UMLS:C3806742|Orphanet:431140|OMIM:300915 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. ORPHA:431140|UMLS:C3806742|http://identifiers.org/omim/300915 http://purl.obolibrary.org/obo/MONDO_0010485 X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome|microphthalmia, syndromic type 13|microphthalmia, syndromic 13|Maine microphthalmos|microphthalmia, syndromic 13; MCOPS13|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|MCOPS13 ordo_malformation_syndrome MONDO:0009481 Jumping Frenchmen of Maine biolink:Disease mondo OMIM:244100|GARD:0006803 http://identifiers.org/omim/244100 http://purl.obolibrary.org/obo/MONDO_0009481 Jumping Frenchmen of Maine|exaggerated startle reflex|'jumpers' of Maine MONDO:0010488 intellectual disability, X-linked 100 biolink:Disease mondo OMIM:300923|UMLS:C3890167 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene. http://identifiers.org/omim/300923|UMLS:C3890167 http://purl.obolibrary.org/obo/MONDO_0010488 MRX100|mental retardation, X-linked type 100|mental retardation, X-linked 100; MRX100|non-syndromic X-linked intellectual disability caused by mutation in KIF4A|intellectual disability, X-linked 100|intellectual disability, X-linked type 100|KIF4A non-syndromic X-linked intellectual disability|mental retardation, X-linked 100|intellectual disability, X-linked 100; MRX100 MONDO:0009480 Joubert syndrome with oculorenal defect biolink:Disease mondo SCTID:721862000|Orphanet:2318|UMLS:C1855675|MESH:C537430|OMIM:243910|GARD:0009455|ICD10:Q04.3 Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. MESH:C537430|SNOMEDCT:721862000|UMLS:C1855675|http://identifiers.org/omim/243910|ORPHA:2318 http://purl.obolibrary.org/obo/MONDO_0009480 CORS|Dekaban-Arima syndrome|Joubert syndrome 5|JS type B|Cerebellooculorenal syndrome|Joubert syndrome with oculorenal defect|Joubert syndrome with Senior-Loken syndrome|Dekaban Arima syndrome|cerebrooculohepatorenal syndrome|Arima syndrome|chorioretinal coloboma with cerebellar vermis aplasia|cerebello-oculo-renal syndrome|coloboma, chorioretinal, with cerebellar vermis aplasia|Joubert syndrome with oculorenal anomalies|Joubert syndrome with bilateral chorioretinal coloboma|JS-OR|cerebro-oculo-hepato-renal syndrome ordo_disease|gard_rare HP:0001600 Abnormality of the larynx biolink:PhenotypicFeature mondo UMLS:C4021777 An abnormality of the larynx. http://purl.obolibrary.org/obo/HP_0001600 Laryngeal anomalies|Laryngeal abnormalities HGNC:11449 SUCLG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11449 MONDO:0010487 intellectual disability, X-linked 99 biolink:Disease mondo UMLS:C3806746|OMIM:300919 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene. UMLS:C3806746|http://identifiers.org/omim/300919 http://purl.obolibrary.org/obo/MONDO_0010487 mental retardation, X-linked 99|MRX99|mental retardation, X-linked 99; MRX99|mental retardation, X-linked type 99|USP9X non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in USP9X|intellectual disability, X-linked type 99|intellectual disability, X-linked 99; MRX99|intellectual disability, X-linked 99 HGNC:11448 SUCLA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11448 MONDO:0010489 intellectual disability, X-linked 101 biolink:Disease mondo OMIM:300928|UMLS:C3890168 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene. http://identifiers.org/omim/300928|UMLS:C3890168 http://purl.obolibrary.org/obo/MONDO_0010489 MID2 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 101; MRX101|mental retardation, X-linked 101|non-syndromic X-linked intellectual disability caused by mutation in MID2|MRX101|intellectual disability, X-linked 101|mental retardation, X-linked type 101|intellectual disability, X-linked type 101|mental retardation, X-linked 101; MRX101 HGNC:23419 KIFBP biolink:OntologyClass mondo http://identifiers.org/hgnc/23419 MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency biolink:Disease mondo UMLS:C2720289|OMIM:300908|MESH:C567533 UMLS:C2720289|http://identifiers.org/omim/300908|MESH:C567533 http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:0010482 X-linked parkinsonism-spasticity syndrome biolink:Disease mondo UMLS:C3806722|ICD10:G20|Orphanet:363654|OMIM:300911 X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. UMLS:C3806722|http://identifiers.org/omim/300911|ORPHA:363654 http://purl.obolibrary.org/obo/MONDO_0010482 PARKINSONISM with spasticity, X-linked; XPDS|PARKINSONISM with spasticity, X-linked|XPDS ordo_disease MONDO:0010481 angioedema biolink:Disease mondo COHD:432791|ICD9:995.1|DOID:1558|SCTID:400075008|MESH:D000799|CSP:2716-7007|ICD10:T78.3|EFO:0005532|HP:0100665 Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx. NCIT:C112175|DOID:1558|SNOMEDCT:400075008|MESH:D000799 http://purl.obolibrary.org/obo/MONDO_0010481 Urticarias, giant|urticaria, giant|angioneurotic oedema|Edemas, angioneurotic|angioneurotic edema|angioneurotic Edemas|edema, angioneurotic|giant urticaria|giant Urticarias|edema, Quincke's|Quincke's edema|Quincke edema|angioneurotic edema|Quinckes edema|angioedemas MONDO:0022453 angiomyomatous hamartoma biolink:Disease mondo UMLS:C2959445|GARD:0008313 An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node. UMLS:C2959445 http://purl.obolibrary.org/obo/MONDO_0022453 gard_rare MONDO:0022454 angiosarcoma of the scalp biolink:Disease mondo GARD:0005814 Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy. http://purl.obolibrary.org/obo/MONDO_0022454 scalp angiosarcoma (disease)|angiosarcoma (disease) of scalp gard_rare MONDO:0022456 ankle defects short stature biolink:Disease mondo GARD:0000694 http://purl.obolibrary.org/obo/MONDO_0022456 gard_rare MONDO:0022457 ankyloblepharon filiforme imperforate anus biolink:Disease mondo GARD:0000697 http://purl.obolibrary.org/obo/MONDO_0022457 gard_rare MONDO:0022458 annular constricting bands biolink:Disease mondo GARD:0000704 A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand. http://purl.obolibrary.org/obo/MONDO_0022458 gard_rare MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency biolink:Disease mondo OMIM:300872|UMLS:C3550875 http://identifiers.org/omim/300872|UMLS:C3550875 http://purl.obolibrary.org/obo/MONDO_0010469 susceptibility to X-linked autism 6|TMLHED|EPSILON-trimethyllysine HYDROXYLASE deficiency; TMLHED|AUTSX6|autism, susceptibility to, X-linked 6; AUTSX6|autism, susceptibility to, X-linked 6|epsilon-trimethyllysine hydroxylase deficiency predisposition MONDO:0009499 Krabbe disease biolink:Disease mondo MESH:D007965|Orphanet:487|OMIM:245200|MedDRA:10023492|SCTID:189979005|DOID:10587|ICD10:E75.2|GARD:0006844|ICD10:E75.23|NCIT:C61254|UMLS:C0023521 Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. http://identifiers.org/omim/245200|MEDDRA:10023492|ORPHA:487|NCIT:C61254|UMLS:C0023521|MESH:D007965|DOID:10587|SNOMEDCT:189979005 http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe's disease|Krabbe disease|beta galactocerebrosidase deficiency|galactosylceramide Beta-galactosidase deficiency|globoid cell leukodystrophy|Krabbe leukodystrophy|galactocerebrosidase deficiency|GALC deficiency|globoid cell leukoencephalopathy|galactosylceramidase deficiency|GLD|Krabbe's leukodystrophy|diffuse globoid body sclerosis|galactosylceramide lipidosis ordo_disease MONDO:0009498 lethal Kniest-like dysplasia biolink:Disease mondo Orphanet:2347|OMIM:245190|GARD:0003124|ICD10:Q77.8|MESH:C537208|UMLS:C1855605 Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities. ORPHA:2347|http://identifiers.org/omim/245190|MESH:C537208|UMLS:C1855605 http://purl.obolibrary.org/obo/MONDO_0009498 Kniest-like dysplasia, lethal|arthrosis, flat face, hypotonia, short neck and macrocephaly|Kniest like dysplasia lethal gard_rare|ordo_malformation_syndrome MONDO:0009497 Kifafa seizure disorder biolink:Disease mondo UMLS:C0796010|OMIM:245180|MESH:C537708|GARD:0008420 http://identifiers.org/omim/245180|MESH:C537708|UMLS:C0796010 http://purl.obolibrary.org/obo/MONDO_0009497 Complex familial seizure disorder|parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes|parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes|Kifafa seizure disorder|Vitsala gard_rare MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis biolink:Disease mondo UMLS:C1855606|GARD:0010512|OMIM:245160 UMLS:C1855606|http://identifiers.org/omim/245160 http://purl.obolibrary.org/obo/MONDO_0009496 Kniest-like dysplasia with pursed lips and ectopia lentis|burton syndrome HP:0001618 Dysphonia biolink:PhenotypicFeature mondo SNOMEDCT_US:47004009|MSH:D055154|UMLS:C1527344 An impairment in the ability to produce voice sounds. http://purl.obolibrary.org/obo/HP_0001618 Inability to produce voice sounds MONDO:0009495 Keutel syndrome biolink:Disease mondo UMLS:C1855607|OMIM:245150|MESH:C536167|GARD:0008449|ICD10:Q87.8|Orphanet:85202|SCTID:724208006 Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. ORPHA:85202|MESH:C536167|UMLS:C1855607|SNOMEDCT:724208006|http://identifiers.org/omim/245150 http://purl.obolibrary.org/obo/MONDO_0009495 KTLS|KEUTEL syndrome; KTLS|pulmonic stenosis, brachytelephalangism, and calcification of cartilages|Keutel syndrome|pulmonic stenosis brachytelephalangism and calcification of cartilages|pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome gard_rare|ordo_malformation_syndrome MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome biolink:Disease mondo DOID:0060828|OMIM:300886|Orphanet:324410|UMLS:C3550913 A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28. DOID:0060828|ORPHA:324410|http://identifiers.org/omim/300886|UMLS:C3550913 http://purl.obolibrary.org/obo/MONDO_0010473 mental retardation, X-linked, syndromic 32|mental retardation, X-linked, syndromic type 32|intellectual disability, X-linked, syndromic type 32|mental retardation, X-linked, syndromic 32; MRXS32|intellectual disability, X-linked, syndromic 32; MRXS32|MRXS32|intellectual disability, X-linked, syndromic 32 ordo_disease MONDO:0010472 developmental and epileptic encephalopathy, 36 biolink:Disease mondo SCTID:733451007|GARD:0012401|ICD10:E77.8|UMLS:C3550904|Orphanet:324422|OMIM:300884 ORPHA:324422|SNOMEDCT:733451007|http://identifiers.org/omim/300884|UMLS:C3550904 http://purl.obolibrary.org/obo/MONDO_0010472 epileptic encephalopathy, early infantile, 36|CDG syndrome type Is|EIEE36|congenital disorder of glycosylation type Is|DEE36|epileptic encephalopathy, early infantile, 36; EIEE36|CDG Is|ALG13-CDG|congenital disorder of glycosylation, type Is; CDG1S|congenital disorder of glycosylation type 1s|CDG-Is|congenital disorder of glycosylation, type Is|CDG1S ordo_disease MONDO:0009494 Ketoadipicaciduria biolink:Disease mondo UMLS:C1855626|MESH:C565453|OMIM:245130 MESH:C565453|UMLS:C1855626|http://identifiers.org/omim/245130 http://purl.obolibrary.org/obo/MONDO_0009494 Ketoadipicaciduria MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement biolink:Disease mondo NCIT:C130989|ICD10:E03.1|UMLS:C3550963|Orphanet:329235|DOID:0111140|OMIM:300888 An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. NCIT:C130989|http://identifiers.org/omim/300888|UMLS:C3550963|ORPHA:329235|DOID:0111140 http://purl.obolibrary.org/obo/MONDO_0010475 hypothyroidism Central and testicular enlargement|X-linked central congenital hypothyroidism with late-onset macroorchidism|IGSF1 deficiency syndrome|CHTE|hypothyroidism, central, and testicular enlargement; CHTE|hypothyroidism, central, and testicular enlargement|central hypothyroidism and testicular enlargement|X-linked central congenital hypothyroidism with late-onset testicular enlargement|Immunoglobulin superfamily member 1 deficiency syndrome ordo_disease MONDO:0009493 Richards-Rundle syndrome biolink:Disease mondo MESH:C535674|UMLS:C0796136|Orphanet:1399|ICD10:G60.2|SCTID:715415005|OMIM:245100|GARD:0008423 Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. ORPHA:1399|MESH:C535674|UMLS:C0796136|SNOMEDCT:715415005|http://identifiers.org/omim/245100 http://purl.obolibrary.org/obo/MONDO_0009493 ataxia-deafness-intellectual disability syndrome|RICHARDS-RUNDLE syndrome; RRNS|ataxia-deafness-mental retardation syndrome|ketoaciduria-intellectual disability-ataxia-deafness syndrome|RRNS|familial ataxia-hypogonadism syndrome|ketoaciduria - intellectual disability - ataxia - deafness|ketoaciduria-mental deficiency syndrome|Richards-Rundle syndrome|ataxia-deafness-retardation syndrome with ketoaciduria ordo_malformation_syndrome MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency biolink:Disease mondo MESH:C537527|Orphanet:832|OMIM:245050|SCTID:238004006|ICD10:E71.3|GARD:0004774|ICD9:270.8 Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. MESH:C537527|ORPHA:832|SNOMEDCT:238004006|http://identifiers.org/omim/245050 http://purl.obolibrary.org/obo/MONDO_0009492 Scot deficiency|SCOTD|OXCT1 deficiency|succinyl-CoA:3-oxoacid-CoA transferase deficiency; SCOTD|succinyl-CoA:3-oxoacid-CoA transferase deficiency|succinyl-CoA acetoacetate transferase deficiency|3-oxoacid CoA transferase deficiency|succinyl-CoA:3-oxoacid CoA transferase deficiency|ketoacidosis due to Scot deficiency|succinyl-Coa:acetoacetate transferase deficiency|succinyl-Coa:3-ketoacid Coa-transferase deficiency|SCOT deficiency ordo_disease MONDO:0010474 linear skin defects with multiple congenital anomalies 2 biolink:Disease mondo UMLS:C3550921|OMIM:300887 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene. http://identifiers.org/omim/300887|UMLS:C3550921 http://purl.obolibrary.org/obo/MONDO_0010474 linear skin defects with multiple congenital anomalies 2; LSDMCA2|microphthalmia with linear skin defects syndrome caused by mutation in COX7B|linear skin defects with multiple congenital anomalies type 2|linear skin defects with multiple congenital anomalies 2|LSDMCA2|aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies|COX7B microphthalmia with linear skin defects syndrome MONDO:0009491 Haim-Munk syndrome biolink:Disease mondo UMLS:C1855627|GARD:0000044|ICD10:Q82.8|MESH:C537627|Orphanet:2342|OMIM:245010|SCTID:719973009 Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. MESH:C537627|UMLS:C1855627|http://identifiers.org/omim/245010|ORPHA:2342|SNOMEDCT:719973009 http://purl.obolibrary.org/obo/MONDO_0009491 keratosis palmoplantaris with periodontopathia and onychogryposis|Cochin Jewish disorder|palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|keratosis palmoplantaris-periodontopathia-onychogryposis syndrome|HAIM-Munk syndrome; HMS|Haim-Munk syndrome|HMS ordo_disease|gard_rare MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type biolink:Disease mondo ICD9:759.89|SCTID:699297004|OMIM:300895|Orphanet:293707|UMLS:C3698541 The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. UMLS:C3698541|ORPHA:293707|http://identifiers.org/omim/300895|SNOMEDCT:699297004 http://purl.obolibrary.org/obo/MONDO_0010477 OHDOX|Ohdo syndrome, X-linked|blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|X-linked Ohdo syndrome|blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type|Ohdo syndrome, X-linked; OHDOX|blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|BMRS, MKB type|BMRS, Maat-Kievit-Brunner type ordo_malformation_syndrome MONDO:0009490 Papillon-Lefevre disease biolink:Disease mondo DOID:3389|MESH:D010214|NCIT:C84992|ICD9:759.89|Orphanet:678|ICD10:Q82.8|GARD:0003100|OMIM:245000|SCTID:40158001|UMLS:C0030360 Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. SNOMEDCT:40158001|ORPHA:678|DOID:3389|MESH:D010214|NCIT:C84992|http://identifiers.org/omim/245000|UMLS:C0030360 http://purl.obolibrary.org/obo/MONDO_0009490 Papillon-LEFèvre syndrome|Keratoris palmoplantaris with periodontopathia|PALS|Pls|Papillon-Lefvre syndrome|keratosis palmoplantar-periodontopathy syndrome|palmar-plantar hyperkeratosis and concomitant periodontal destruction|keratosis palmoplantaris with periodontopathia|PAPILLON-Lefevre syndrome; PALS|keratosis palmoplantar - periodontopathy|hyperkeratosis palmoplantaris with periodontosis|PAPILLON-Lefevre syndrome|palmoplantar keratoderma with periodontosis|PLS|Papillon Lefevre syndrome ordo_disease MONDO:0010476 neurodegeneration with brain iron accumulation 5 biolink:Disease mondo SCTID:732959007|UMLS:C3550973|OMIM:300894|Orphanet:329284|GARD:0012570|UMLS:CN168656|DOID:0110739|ICD10:G23.0 Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood. DOID:0110739|UMLS:CN168656|SNOMEDCT:732959007|http://identifiers.org/omim/300894|ORPHA:329284|UMLS:C3550973 http://purl.obolibrary.org/obo/MONDO_0010476 static encephalopathy of childhood with neurodegeneration in adulthood|neurodegeneration with brain iron accumulation 5; NBIA5|SENDA|beta-propeller protein-associated neurodegeneration|neurodegeneration with brain iron accumulation 5|NBIA5|WDR45 neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accululation 5|neurodegeneration with brain iron accumulation type 5|static encephalopathy of childhood with neurdegeneration in adulthood|static encephalopathy Of childhood with neurodegeneration In adulthood|neurodegeneration with brain iron accumulation caused by mutation in WDR45|BPAN ordo_disease MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 biolink:Disease mondo Orphanet:352675|DOID:0110207|SCTID:763347000|GARD:0012445|UMLS:C3806702|ICD10:G60.0|OMIM:300905 X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). SNOMEDCT:763347000|DOID:0110207|UMLS:C3806702|http://identifiers.org/omim/300905|ORPHA:352675 http://purl.obolibrary.org/obo/MONDO_0010479 CMT6X|Charcot-Marie-Tooth disease, X-linked dominant, 6|Charcot-Marie-Tooth disease X-linked dominant type 6|Charcot-Marie-Tooth disease, X-linked dominant, type 6|Charcot-Marie-Tooth neuropathy, X-linked dominant, 6|X-linked Charcot-Marie-Tooth disease type 6|CMTX6|Charcot-Marie-Tooth neuropathy X-linked dominant 6|Charcot-Marie-Tooth disease, X-linked dominant, 6; CMTX6 ordo_disease MONDO:0010478 SLC35A2-CDG biolink:Disease mondo UMLS:C3806688|DOID:0070265|OMIM:300896|ICD10:E77.8|Orphanet:356961|GARD:0012403 SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). ORPHA:356961|DOID:0070265|UMLS:C3806688|http://identifiers.org/omim/300896 http://purl.obolibrary.org/obo/MONDO_0010478 EIEE22|epileptic encephalopathy, early infantile, 22; EIEE22|congenital disorder of glycosylation type IIm|congenital disorder of glycosylation, type IIm; CDG2M|CDG syndrome type IIm|congenital disorder of glycosylation type 2m|CDG2M|congenital disorder of glycosylation, type IIm|CDG IIm|CDG-IIm|epileptic encephalopathy, early infantile, 22 gard_rare|ordo_inheritance_inconsistent|ordo_disease MONDO:0022448 obsolete amyoplasia mandibulofacial dysostosis biolink:Disease mondo GARD:0000660 http://purl.obolibrary.org/obo/MONDO_0022448 gard_rare MONDO:0010471 Cornelia de Lange syndrome 5 biolink:Disease mondo UMLS:C3550903|OMIM:300882 http://identifiers.org/omim/300882|UMLS:C3550903 http://purl.obolibrary.org/obo/MONDO_0010471 Cornelia De Lange syndrome type 5|Cornelia de Lange syndrome 5|Cornelia DE Lange syndrome 5; CDLS5|CDLS5 MONDO:0010470 Baratela-Scott syndrome biolink:Disease mondo UMLS:C3550876|OMIM:300881 http://identifiers.org/omim/300881|UMLS:C3550876 http://purl.obolibrary.org/obo/MONDO_0010470 Baratela-Scott syndrome IAO:0000409 denotator type biolink:OntologyClass mondo A denotator type indicates how a term should be interpreted from an ontological perspective. http://purl.obolibrary.org/obo/IAO_0000409 MONDO:0022444 amyloidosis bronchopulmonary biolink:Disease mondo GARD:0001026 Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses. http://purl.obolibrary.org/obo/MONDO_0022444 gard_rare HGNC:23405 LRMDA biolink:OntologyClass mondo http://identifiers.org/hgnc/23405 NCBITaxon:314145 Laurasiatheria organism taxon mondo PMID:12878460|PMID:11214319|PMID:11214318|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_314145 HGNC:23406 DOLK biolink:OntologyClass mondo http://identifiers.org/hgnc/23406 NCBITaxon:314146 Euarchontoglires organism taxon mondo PMID:15522813|PMID:11214319|PMID:12878460|GC_ID:1|PMID:12082125 http://purl.obolibrary.org/obo/NCBITaxon_314146 MONDO:0022446 obsolete amyloidosis nodular localized cutaneous biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022446 NCBITaxon:314147 Glires organism taxon mondo PMID:15522813|PMID:11214319|GC_ID:1|PMID:12082125 http://purl.obolibrary.org/obo/NCBITaxon_314147 Rodents and rabbits MONDO:0010459 amyotrophic lateral sclerosis type 15 biolink:Disease mondo DOID:0060206|OMIM:300857|UMLS:C3275459 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene. http://identifiers.org/omim/300857|DOID:0060206|UMLS:C3275459 http://purl.obolibrary.org/obo/MONDO_0010459 amyotrophic lateral sclerosis caused by mutation in UBQLN2|ALS15|amyotrophic lateral sclerosis 15 with or without frontotemporal dementia|amyotrophic lateral sclerosis 15, with or without frontotemporal dementia|amyotrophic lateral sclerosis 15 with or without frontotemporal dementia; ALS15|amyotrophic lateral sclerosis 15|UBQLN2 amyotrophic lateral sclerosis MONDO:0010458 hypospadias 4, X-linked biolink:Disease mondo OMIM:300856 http://identifiers.org/omim/300856 http://purl.obolibrary.org/obo/MONDO_0010458 hypospadias 4, X-linked, susceptibility to|HYSP4|hypospadias 4, X-linked, susceptibility to; HYSP4 GO:1905030 voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential biolink:OntologyClass mondo Any voltage-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. http://purl.obolibrary.org/obo/GO_1905030 voltage-dependent ion channel activity involved in regulation of post-synaptic membrane potential|voltage-dependent ion channel activity involved in regulation of postsynaptic membrane potential|voltage-gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of postsynaptic membrane potential MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 biolink:Disease mondo GARD:0010028|ICD10:K83.1|Orphanet:99960|OMIM:243300|DOID:0070231 Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity. DOID:0070231|ORPHA:99960|http://identifiers.org/omim/243300|UMLS:C1855731|MESH:C535930 http://purl.obolibrary.org/obo/MONDO_0009469 cholestasis, benign recurrent intrahepatic 1|mild ATP8B1 deficiency|cholestasis, benign recurrent intrahepatic, 1|Summerskill syndrome|Bric type 1|BRIC1|recurrent familial intrahepatic cholestasis 1|cholestasis, benign recurrent intrahepatic, type 1|ATP8B1 benign recurrent intrahepatic cholestasis|benign recurrent intrahepatic cholestasis 1|cholestasis, benign recurrent intrahepatic, 1; BRIC1|benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1 gard_rare|ordo_clinical_subtype MONDO:0009468 pseudotumor cerebri biolink:Disease mondo UMLS:C0033845|OMIM:243200|SCTID:68267002|GARD:0004561|ICD10:G93.2|Orphanet:238624|COHD:312902|MedDRA:10037149|ICD9:348.2|DOID:11459|MESH:D011559|EFO:1001132|NCIT:C85035 Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible. DOID:11459|UMLS:C0033845|SNOMEDCT:68267002|ORPHA:238624|http://identifiers.org/omim/243200|MESH:D011559|NCIT:C85035 http://purl.obolibrary.org/obo/MONDO_0009468 pseudotumor cerebri|benign intracran. hypt.|IIH|intracranial hypertension, idiopathic|benign intracranial hypertension|idiopathic intracranial hypertension gard_rare|ordo_disease MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome biolink:Disease mondo UMLS:C1855732|GARD:0003928|MESH:C538341|OMIM:243185|ICD10:Q87.8|Orphanet:1654 MESH:C538341|ORPHA:1654|http://identifiers.org/omim/243185|UMLS:C1855732 http://purl.obolibrary.org/obo/MONDO_0009467 intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth|Natal teeth, intestinal pseudoobstruction and patent ductus ordo_malformation_syndrome MONDO:0009466 neuronal intestinal pseudoobstruction biolink:Disease mondo MESH:C537394|GARD:0003969|Orphanet:99811|UMLS:C1855733|ICD10:K59.8|OMIM:243180 Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction. MESH:C537394|ORPHA:99811|http://identifiers.org/omim/243180|UMLS:C1855733 http://purl.obolibrary.org/obo/MONDO_0009466 visceral neuropathy, familial, autosomal recessive|nid a|visceral neuropathy familial|pseudoobstruction, chronic idiopathic intestinal, neuronal type|pseudoobstruction chronic idiopathic intestinal neuronal type|Argyrophil myenteric plexus deficiency of|Argyrophil myenteric plexus, deficiency of|neuronal intestinal dysplasia, type a|intestinal pseudoobstruction due to neuronal disease ordo_etiological_subtype MONDO:0009465 multiple intestinal atresia biolink:Disease mondo Orphanet:436252|DOID:14671|ICD10:Q82.8|MedDRA:10028210|ICD9:751.8|ICD10:Q43.8|SCTID:95472001|OMIM:243150|Orphanet:2300|GARD:0003013|MESH:C562441 Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. ORPHA:2300|ORPHA:436252|http://identifiers.org/omim/243150|DOID:14671|MEDDRA:10028210|SNOMEDCT:95472001|MESH:C562441|UMLS:C0220744 http://purl.obolibrary.org/obo/MONDO_0009465 multiple gastrointestinal atresias|gastrointestinal defects and immunodeficiency syndrome|combined immunodeficiency-enteropathy spectrum|GIDID|Cid-MIA/early-onset IBD|intestinal atresia multiple|gastrointestinal defects and immunodeficiency syndrome; GIDID|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|intestinal atresia, multiple|familial intestinal polyatresia syndrome gard_rare|ordo_disease|ordo_morphological_anomaly MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 biolink:Disease mondo OMIM:243110|UMLS:C1855735 http://identifiers.org/omim/243110|UMLS:C1855735 http://purl.obolibrary.org/obo/MONDO_0009464 immunodeficiency with defective T-cell response to Interleukin type 1|Interleukin 1, defective T-cell response to|immunodeficiency with defective T-cell response to interleukin 1 MONDO:0009463 internal carotid arteries, hypoplasia of biolink:Disease mondo OMIM:243100 http://identifiers.org/omim/243100 http://purl.obolibrary.org/obo/MONDO_0009463 internal carotid arteries, hypoplasia of MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type biolink:Disease mondo DOID:0060819|UMLS:C3275471|OMIM:300861 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23. DOID:0060819|UMLS:C3275471|http://identifiers.org/omim/300861 http://purl.obolibrary.org/obo/MONDO_0010462 X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance|intellectual disability, X-linked, syndromic, Chudley-Schwartz type; MRXSCS|mental retardation, X-linked, syndromic, Chudley-Schwartz type|X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance|mental retardation, X-linked, syndromic, Chudley-Schwartz type; MRXSCS|MRXSCS|intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|intellectual disability, X-linked, syndromic, Chudley-Schwartz type|mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance MONDO:0009462 inosine phosphorylase deficiency, immune defect due to biolink:Disease mondo UMLS:C1855737|MESH:C565465|OMIM:243080 http://identifiers.org/omim/243080|MESH:C565465|UMLS:C1855737 http://purl.obolibrary.org/obo/MONDO_0009462 inosine phosphorylase deficiency, immune defect due to MONDO:0009461 male infertility due to large-headed multiflagellar polyploid spermatozoa biolink:Disease mondo ICD10:N46|GARD:0012385|OMIM:243060|UMLS:C0403812|MESH:C562903|SCTID:236806004|Orphanet:137893|DOID:0070183 Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy). ORPHA:137893|http://identifiers.org/omim/243060|UMLS:C0403812|SNOMEDCT:236806004|DOID:0070183|MESH:C562903 http://purl.obolibrary.org/obo/MONDO_0009461 spermatogenic failure 5|Male infertility due to macrozoospermia|macrocephalic sperm head syndrome|spermatogenic failure 5; SPGF5|infertility associated with multi-tailed spermatozoa and excessive DNA|infertility associated with Multitailed spermatozoa and excessive DNA|SPGF5|Male infertility with large-headed, multiflagellar, polyploid spermatozoa|macrozoospermia|spermatogenic failure type 5 ordo_clinical_subtype MONDO:0010461 syndromic X-linked intellectual disability Nascimento type biolink:Disease mondo UMLS:C3275464|OMIM:300860|ICD10:Q87.8|DOID:0060820|Orphanet:163956 X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. ORPHA:163956|DOID:0060820|UMLS:C3275464|http://identifiers.org/omim/300860 http://purl.obolibrary.org/obo/MONDO_0010461 intellectual disability, X-linked, syndromic, Nascimento type|X-linked intellectual disability, Nascimento type|mental retardation, X-linked, syndromic, Nascimento type|mental retardation, X-linked, syndromic, Nascimento type; MRXSN|intellectual disability, X-linked, syndromic 30|MRXSN|intellectual disability, X-linked syndromic, Nascimento-type|mental retardation, X-linked syndromic, Nascimento-type|X-linked intellectual disability-nail dystrophy-seizures syndrome|intellectual disability, X-linked, syndromic, Nascimento type; MRXSN|mental retardation, X-linked, syndromic 30 ordo_disease MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome biolink:Disease mondo OMIM:300864|UMLS:C3275487|ICD10:Q87.8|Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. ORPHA:163961|UMLS:C3275487|http://identifiers.org/omim/300864 http://purl.obolibrary.org/obo/MONDO_0010464 cerebral-cerebellar-coloboma syndrome, X-linked|X-linked cerebral-cerebellar-coloboma syndrome|X-linked intellectual disability, Kroes type ordo_disease MONDO:0009460 Indolylacroyl Glycinuria with mental retardation biolink:Disease mondo UMLS:C1855738|MESH:C565466|OMIM:243050 http://identifiers.org/omim/243050|MESH:C565466|UMLS:C1855738 http://purl.obolibrary.org/obo/MONDO_0009460 Indolylacroyl Glycinuria with mental retardation|Indolylacroyl Glycinuria with intellectual disability MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type biolink:Disease mondo Orphanet:163966|UMLS:C3275476|OMIM:300863|SCTID:719837003|ICD10:Q87.8 X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. ORPHA:163966|UMLS:C3275476|http://identifiers.org/omim/300863|SNOMEDCT:719837003 http://purl.obolibrary.org/obo/MONDO_0010463 X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome|chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ordo_disease MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 biolink:Disease mondo ICD10:Q87.8|UMLS:C3275508|GARD:0012777|Orphanet:300496|OMIM:300868|DOID:0080139 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene. ORPHA:300496|UMLS:C3275508|http://identifiers.org/omim/300868|DOID:0080139 http://purl.obolibrary.org/obo/MONDO_0010466 epileptic encephalopathy, early infantile, 20|MCAHS2|developmental and epileptic encephalopathy 20|multiple congenital anomalies-hypotonia-seizures syndrome 2; MCAHS2|multiple congenital anomalies-hypotonia-seizures syndrome type 2|GPIBD4|DEE20|multiple congenital anomalies-hypotonia-seizures syndrome 2|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA|glycosylphosphatidylinositol biosynthesis defect 4|MCAHS type 2|PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability ordo_malformation_syndrome HGNC:11427 STUB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11427 MONDO:0010465 Kabuki syndrome 2 biolink:Disease mondo OMIM:300867|UMLS:C3275495 UMLS:C3275495|http://identifiers.org/omim/300867 http://purl.obolibrary.org/obo/MONDO_0010465 KABUKI syndrome 2; KABUK2|KABUK2|Kabuki syndrome 2|Kabuki syndrome type 2 MONDO:0010468 ANIB5 biolink:Disease mondo OMIM:300870|MESH:C563670|UMLS:C1835857 MESH:C563670|UMLS:C1835857|http://identifiers.org/omim/300870 http://purl.obolibrary.org/obo/MONDO_0010468 aneurysm, intracranial BERRY, 5; ANIB5|aneurysm, intracranial BERRY, 5|ANIB5 HGNC:11425 STS biolink:OntologyClass mondo http://identifiers.org/hgnc/11425 MONDO:0010467 Xq27.3q28 duplication syndrome biolink:Disease mondo OMIM:300869|Orphanet:261483|ICD10:Q99.8|UMLS:C3275521 Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. UMLS:C3275521|ORPHA:261483|http://identifiers.org/omim/300869 http://purl.obolibrary.org/obo/MONDO_0010467 Xq27.3-q28 microduplication syndrome|dup(X)(q27.3q28)|chromosome Xq27.3-q28 DUPLICATION syndrome|trisomy Xq27.3-q28|trisomy Xq27.3q28 ordo_malformation_syndrome IAO:0000410 universal biolink:OntologyClass mondo http://purl.obolibrary.org/obo/IAO_0000410 MONDO:0010460 syndromic X-linked intellectual disability 17 biolink:Disease mondo UMLS:C3275460|OMIM:300858|DOID:0060803|Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. ORPHA:289483|DOID:0060803|UMLS:C3275460|http://identifiers.org/omim/300858 http://purl.obolibrary.org/obo/MONDO_0010460 intellectual disability-alacrima-achalasia syndrome|intellectual disability, X-linked, with alacrima and achalasia|mental retardation, X-linked, syndromic 17; MRXS17|X-linked mental retardation with alacrima and achalasia|mental retardation, X-linked, with alacrima and achalasia|MRXS17|intellectual disability, X-linked, syndromic 17|mental retardation, X-linked, syndromic 17|syndromic X-linked intellectual disability type 17|X-linked intellectual disability with alacrima and achalasia|intellectual disability, X-linked, syndromic 17; MRXS17 ordo_disease MONDO:0022430 persistent fetal circulation syndrome biolink:Disease mondo NCIT:C85006|SCTID:233815004 A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. NCIT:C85006|SNOMEDCT:233815004 http://purl.obolibrary.org/obo/MONDO_0022430 PPHN|persistent fetal circulation|persistent pulmonary hypertension of the newborn MONDO:0022432 alves Castelo dos Santos syndrome biolink:Disease mondo MESH:C536593 MESH:C536593 http://purl.obolibrary.org/obo/MONDO_0022432 ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract MONDO:0022434 obsolete amelia cleft lip palate hydrocephalus iris coloboma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022434 MONDO:0022435 Mauriac syndrome biolink:Disease mondo SCTID:80660001|GTR:AN0543890|NCIT:C130997|ICD9:258.1|GTR:AN0543843|UMLS:C0221005 A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. UMLS:C0221005|SNOMEDCT:80660001|NCIT:C130997 http://purl.obolibrary.org/obo/MONDO_0022435 Mauriac Syndrome|mauriac syndrome|dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome|Mauriac syndrome|Mauriac's syndrome|mauriac's syndrome|mauriac syndrome|Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome biolink:Disease mondo UMLS:C3151857|OMIM:300845|Orphanet:280679 Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. http://identifiers.org/omim/300845|UMLS:C3151857|ORPHA:280679 http://purl.obolibrary.org/obo/MONDO_0010448 syndromic Moyamoya disease|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism; MYMY4|Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|MYMY4|chromosome Xq28 deletion syndrome, 3.4-Kb ordo_disease MONDO:0010447 intellectual disability, X-linked 19 biolink:Disease mondo UMLS:C0796225|MESH:C563141|OMIM:300844 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene. UMLS:C0796225|http://identifiers.org/omim/300844|MESH:C563141 http://purl.obolibrary.org/obo/MONDO_0010447 intellectual disability, X-linked type 19|intellectual disability, X-linked 19|mental retardation, X-linked 19; MRX19|non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3|mental retardation, X-linked 19|intellectual disability, X-linked 19; MRX19|RPS6KA3 non-syndromic X-linked intellectual disability|MRX19|mental retardation, X-linked type 19 MONDO:0009479 Johanson-Blizzard syndrome biolink:Disease mondo MESH:C535880|OMIM:260450|DOID:14694|GARD:0000080|Orphanet:2315|UMLS:C0175692|MESH:C564907|SCTID:75979009|EFO:0001063|ICD9:759.89|ICD10:Q87.8|UMLS:C1850081|OMIM:243800 Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. UMLS:C1850081|ORPHA:2315|SNOMEDCT:75979009|UMLS:C0175692|http://identifiers.org/omim/260450|DOID:14694|http://identifiers.org/omim/243800|MESH:C535880|MESH:C564907 http://purl.obolibrary.org/obo/MONDO_0009479 pancreatic insufficiency, combined exocrine|Johanson-BLIZZARD syndrome; JBS|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness|Johanson-Blizzard syndrome|JBS|nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness ordo_malformation_syndrome|gard_rare HGNC:11429 STX11 biolink:OntologyClass mondo http://identifiers.org/hgnc/11429 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency biolink:Disease mondo OMIM:243700|GARD:0002816|UMLS:C1968689|ICD10:D81.1|Orphanet:217390|NCIT:C126343 Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). http://identifiers.org/omim/243700|NCIT:C126343|ORPHA:217390|UMLS:C1968689 http://purl.obolibrary.org/obo/MONDO_0009478 Cid due to DOCK8 deficiency|hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive|combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency|DOCK8 deficiency|hyper Ig E syndrome, autosomal recessive|dedicator of cytokinesis 8 deficiency|hyper-IgE syndrome, autosomal recessive|HIES autosomal recessive|autosomal recessive hyper IgE syndrome|AR hyperimmunoglobulin E syndrome|HIES, autosomal recessive|DOCK8 immunodeficiency syndrome|AR-HIES|hyper-IgE recurrent infection syndrome, autosomal recessive gard_rare|ordo_disease MONDO:0010449 autism, susceptibility to, X-linked 5 biolink:Disease mondo OMIM:300847 http://identifiers.org/omim/300847 http://purl.obolibrary.org/obo/MONDO_0010449 susceptibility to X-linked autism 5|AUTSX5|autism, susceptibility to, X-linked 5; AUTSX5|autism, susceptibility to, X-linked 5|autism, susceptibility to, X-linked type 5 predisposition MONDO:0009477 Stromme syndrome biolink:Disease mondo DOID:0110595|OMIM:243605|OMIM:616369|EFO:0009160|Orphanet:506307|Orphanet:444069|MESH:C565460|UMLS:CN237682|ICD10:Q87.8 Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). MESH:C565460|http://identifiers.org/omim/243605|UMLS:CN237682|DOID:0110595|http://identifiers.org/omim/616369|ORPHA:444069|ORPHA:506307 http://purl.obolibrary.org/obo/MONDO_0009477 primary ciliary dyskinesia 31|apple peel syndrome with microcephaly and ocular anomalies|apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome|ciliary dyskinesia, primary, 31|Stromme syndrome; STROMS|jejunal atresia-microcephaly-ocular anomalies syndrome|CILD31|STROMS|lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome|Stromme syndrome|jejunal atresia with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|ciliary dyskinesia, primary, type 31|ciliary dyskinesia, primary, 31; CILD31 ordo_malformation_syndrome MONDO:0009476 atresia of small intestine biolink:Disease mondo ICD10:Q41.9|ICD10:Q41.8|NCIT:C98828|ICD10:Q41.2|UMLS:C0266172|MedDRA:10010626|ICD10:Q41.1|ICD10:Q41.0|GARD:0006799|OMIM:243600|Orphanet:1201|GARD:0000140|MESH:C538260 Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases. MESH:C538260|UMLS:C0266175|UMLS:C0266172|ORPHA:1201|MEDDRA:10010626|http://identifiers.org/omim/243600|NCIT:C98828 http://purl.obolibrary.org/obo/MONDO_0009476 familial apple peel jejunal atresia|APSB|congenital small intestine atresia|jejunal atresia|small intestinal atresia|Jejunoileal atresia|atresia of the small intestine|congenital atresia of the small intestine|apple peel syndrome|small intestine atresia|intestinal atresia type IIIb|apple-peel intestinal atresia|apple peel small bowel syndrome gard_rare|ordo_morphological_anomaly MONDO:0009475 isovaleric acidemia biolink:Disease mondo OMIM:243500|UMLS:C0268575|Orphanet:33|GARD:0000465|DOID:14753|ICD10:E71.1|MESH:C538167|SCTID:87827003|ICD10:E71.110|NCIT:C98964 Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported. UMLS:C0268575|MESH:C538167|DOID:14753|http://identifiers.org/omim/243500|ORPHA:33|NCIT:C98964|SNOMEDCT:87827003 http://purl.obolibrary.org/obo/MONDO_0009475 isovaleric acidemia; IVA|isovaleryl-CoA dehydrogenase deficiency|IVD deficiency|isovaleric aciduria|Isovalericacidemia|IVA|isovaleric acid CoA dehydrogenase deficiency|isovaleric acidemia|isovaleric acid Coa dehydrogenase deficiency|isovaleryl CoA carboxylase deficiency ordo_disease|gard_rare MONDO:0009474 isovaleric acid, inability to smell biolink:Disease mondo OMIM:243450 http://identifiers.org/omim/243450 http://purl.obolibrary.org/obo/MONDO_0009474 isovaleric acid, inability to smell MONDO:0010451 intellectual disability, X-linked 41 biolink:Disease mondo OMIM:300849|UMLS:C3887939 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene. UMLS:C3887939|http://identifiers.org/omim/300849 http://purl.obolibrary.org/obo/MONDO_0010451 non-syndromic X-linked intellectual disability caused by mutation in GDI1|intellectual disability, X-linked 48|mental retardation, X-linked 48|intellectual disability, X-linked 41; MRX41|mental retardation, X-linked 41; MRX41|mental retardation, X-linked 41|intellectual disability, X-linked type 41|intellectual disability, X-linked 41|GDI1 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 41|MRX41 MONDO:0009473 isotretinoin-like syndrome biolink:Disease mondo SCTID:722006004|GARD:0009675|Orphanet:2306|MESH:C535542|ICD10:Q87.8|OMIM:243440 Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. SNOMEDCT:722006004|ORPHA:2306|http://identifiers.org/omim/243440|MESH:C535542 http://purl.obolibrary.org/obo/MONDO_0009473 microtia-aortic arch syndrome|Kawashima syndrome|microtia-aortic Arch syndrome|Isotretinoin embryopathy like syndrome|microtia aortic arch syndrome|syndrome of microtia and aortic arch anomalies|ISOTRETINOIN embryopathy-like syndrome ordo_malformation_syndrome MONDO:0009472 acetylation, slow biolink:Disease mondo OMIM:243400 http://identifiers.org/omim/243400 http://purl.obolibrary.org/obo/MONDO_0009472 acetylation, Fast|slow acetylator phenotype|INH inactivation, slow|Isoniazid inactivation, slow|acetylation, slow|INH inactivation, Fast|Fast acetylator phenotype GO:1905038 regulation of membrane lipid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of membrane lipid metabolic process. http://purl.obolibrary.org/obo/GO_1905038 regulation of membrane lipid metabolism MONDO:0010450 MRX89 biolink:Disease mondo MESH:C564036|OMIM:300848 MESH:C564036|http://identifiers.org/omim/300848 http://purl.obolibrary.org/obo/MONDO_0010450 MRX89|intellectual disability, X-linked 89|mental retardation, X-linked 89|intellectual disability, X-linked 89; MRX89|mental retardation, X-linked 89; MRX89 MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of biolink:Disease mondo UMLS:C1855721|OMIM:243320|MESH:C565461 MESH:C565461|http://identifiers.org/omim/243320|UMLS:C1855721 http://purl.obolibrary.org/obo/MONDO_0009471 intrinsic factor and r binder, combined congenital deficiency of MONDO:0010453 MRX92 biolink:Disease mondo UMLS:C1845144|MESH:C564483|OMIM:300851 MESH:C564483|UMLS:C1845144|http://identifiers.org/omim/300851 http://purl.obolibrary.org/obo/MONDO_0010453 intellectual disability, X-linked 92; MRX92|mental retardation, X-linked 92; MRX92|MRX92|mental retardation, X-linked 92|intellectual disability, X-linked 92 GO:1905039 carboxylic acid transmembrane transport biolink:OntologyClass mondo The process in which carboxylic acid is transported across a membrane. http://purl.obolibrary.org/obo/GO_1905039 MONDO:0009470 Baraitser-Winter syndrome 1 biolink:Disease mondo UMLS:C1853623|OMIM:243310|UMLS:C1837819 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene. http://identifiers.org/omim/243310|UMLS:C1853623|UMLS:C1837819 http://purl.obolibrary.org/obo/MONDO_0009470 intellectual disability with epilepsy and characteristic facies|mental retardation with epilepsy and characteristic facies|pachygyria, mental retardation, epilepsy, and characteristic facies|Baraitser-Winter syndrome type 1|BRWS1|iris coloboma with ptosis, hypertelorism, and intellectual disability|iris coloboma with ptosis, hypertelorism, and mental retardation|Fryns-Aftimos syndrome|cerebrofrontofacial syndrome|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB|Baraitser-WINTER syndrome 1; BRWS1|cerebrooculofacial lymphatic syndrome|Baraitser-Winter syndrome 1|chromosome 7P22 deletion syndrome|ACTB Baraitser-Winter cerebrofrontofacial syndrome|pachygyria, intellectual disability, epilepsy, and characteristic facies clingen MONDO:0010452 intellectual disability, X-linked 90 biolink:Disease mondo OMIM:300850|UMLS:C3275443 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene. UMLS:C3275443|http://identifiers.org/omim/300850 http://purl.obolibrary.org/obo/MONDO_0010452 intellectual disability, X-linked 90; MRX90|non-syndromic X-linked intellectual disability caused by mutation in DLG3|mental retardation, X-linked 90; MRX90|intellectual disability, X-linked type 90|intellectual disability, X-linked 90|mental retardation, X-linked 90|DLG3 non-syndromic X-linked intellectual disability|MRX90|mental retardation, X-linked type 90 HGNC:11431 STX16 biolink:OntologyClass mondo http://identifiers.org/hgnc/11431 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia biolink:Disease mondo ICD10:D81.8|GARD:0010907|Orphanet:317476|UMLS:C3275445|OMIM:300853|SCTID:711481001|DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias. SNOMEDCT:711481001|DOID:0080319|ORPHA:317476|UMLS:C3275445|http://identifiers.org/omim/300853 http://purl.obolibrary.org/obo/MONDO_0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia|XMEN|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia; XMEN|X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia|combined immunodeficiency due to MAGT1 deficiency|Cid due to MAGT1 deficiency|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia ordo_disease MONDO:0010454 MRX88 biolink:Disease mondo UMLS:C3275444|OMIM:300852 UMLS:C3275444|http://identifiers.org/omim/300852 http://purl.obolibrary.org/obo/MONDO_0010454 mental retardation, X-linked 88|intellectual disability, X-linked 88|intellectual disability, X-linked 88; MRX88|mental retardation, X-linked 88; MRX88|MRX88 MONDO:0010457 Ogden syndrome biolink:Disease mondo Orphanet:276432|MESH:C536107|GARD:0000188|DOID:0050781|UMLS:C3275447|OMIM:300855|HGNC:7645 Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. http://identifiers.org/omim/300855|MESH:C536107|DOID:0050781|ORPHA:276432|UMLS:C3275447 http://purl.obolibrary.org/obo/MONDO_0010457 NAT1 deficiency|N acetyltransferase deficiency|Acetyl-CoA:arylamine n-acetyltransferase|arylamine n-acetyltransferase 1|Ogden syndrome; OGDNS|N acetyltransferase 1 deficiency|X-linked malformation and infantile lethality syndrome|Ogden syndrome|OGDNS|N-terminal acetyltransferase deficiency|N-alpha-acetyltransferase|premature aging appearance-developmental delay-cardiac arrhythmia syndrome ordo_malformation_syndrome|gard_rare MONDO:0010456 renal cell carcinoma, Xp11-associated biolink:Disease mondo UMLS:C3275446|OMIM:300854 UMLS:C3275446|http://identifiers.org/omim/300854 http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated|renal cell carcinoma, Xp11-associated; RCCX1|RCCX1 MONDO:0022428 aluminosis biolink:Disease mondo SCTID:90623003|UMLS:C0311227|GARD:0008357 Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax. SNOMEDCT:90623003|UMLS:C0311227 http://purl.obolibrary.org/obo/MONDO_0022428 aluminium lung|pulmonary aluminosis|aluminosis of lung gard_rare IAO:0000423 to be replaced with external ontology term biolink:OntologyClass mondo Terms with this status should eventually replaced with a term from another ontology. http://purl.obolibrary.org/obo/IAO_0000423 IAO:0000420 defined class biolink:OntologyClass mondo A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal http://purl.obolibrary.org/obo/IAO_0000420 IAO:0000421 named class expression biolink:OntologyClass mondo A named class expression is a logical expression that is given a name. The name can be used in place of the expression. http://purl.obolibrary.org/obo/IAO_0000421 OBO:mondo#disease_triggers disease triggers biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#disease_triggers HP:0001649 Tachycardia biolink:PhenotypicFeature mondo UMLS:C4020868|SNOMEDCT_US:86651002|UMLS:C0039231|SNOMEDCT_US:3424008|MSH:D013610 A rapid heartrate that exceeds the range of the normal resting heartrate for age. http://purl.obolibrary.org/obo/HP_0001649 Increased heart rate|Rapid heart beat|Fast heart rate|Elevated heart rate|Heart racing|Racing heart HP:0001644 Dilated cardiomyopathy biolink:PhenotypicFeature mondo MSH:D002311|SNOMEDCT_US:195021004|UMLS:C0007193|Fyler:1843|SNOMEDCT_US:399020009 Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. http://purl.obolibrary.org/obo/HP_0001644 Stretched and thinned heart muscle|Congestive cardiomyopathy|Cardiomyopathy, dilated GO:0090482 vitamin transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of a vitamin from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0090482 vitamin or cofactor transporter activity|vitamin transporter activity MONDO:0022495 obsolete arthritis short stature deafness biolink:Disease mondo GARD:0000775 http://purl.obolibrary.org/obo/MONDO_0022495 MONDO:0022496 arthrogryposis IUGR thoracic dystrophy biolink:Disease mondo GARD:0000782 A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia. http://purl.obolibrary.org/obo/MONDO_0022496 Van Bervliet syndrome gard_rare HGNC:11408 STK4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11408 HP:0001651 Dextrocardia biolink:PhenotypicFeature mondo UMLS:C0011813|EPCC:02.01.02|SNOMEDCT_US:27637000|ICD-10:Q24.0|Fyler:110|MSH:D003914|Fyler:0110 The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. http://purl.obolibrary.org/obo/HP_0001651 Thoracic situs inversus|Heart tip and four chambers point towards right side of body HGNC:11411 CDKL5 biolink:OntologyClass mondo http://identifiers.org/hgnc/11411 HP:0001650 Aortic valve stenosis biolink:PhenotypicFeature mondo SNOMEDCT_US:60573004|UMLS:C0003507|MSH:D001024|Fyler:1411 The presence of a stenosis (narrowing) of the aortic valve. http://purl.obolibrary.org/obo/HP_0001650 Narrowing of aortic valve|Aortic stenosis|Valvular aortic stenosis HP:0001654 Abnormal heart valve morphology biolink:PhenotypicFeature mondo MSH:D006349|UMLS:C0241654|UMLS:C0018824|SNOMEDCT_US:368009 Any structural abnormality of a cardiac valve. http://purl.obolibrary.org/obo/HP_0001654 Valvular abnormality|Abnormality of the heart valves|Valvular heart disease HP:0001626 Abnormality of the cardiovascular system biolink:PhenotypicFeature mondo SNOMEDCT_US:49601007|MSH:D018376|MSH:D002318|UMLS:C0007222|UMLS:C0243050 Any abnormality of the cardiovascular system. http://purl.obolibrary.org/obo/HP_0001626 Cardiovascular disease|Cardiovascular abnormality|Abnormality of the cardiovascular system HP:0001627 Abnormal heart morphology biolink:PhenotypicFeature mondo UMLS:C0152021|UMLS:C0018798|MSH:D006330|SNOMEDCT_US:13213009 Any structural anomaly of the heart. http://purl.obolibrary.org/obo/HP_0001627 Cardiac anomalies|Congenital heart defects|Congenital heart defect|Heart defect|Cardiac abnormality|Abnormality of cardiac morphology|Abnormality of the heart|Cardiac anomaly|Abnormally shaped heart MONDO:0022481 APO A-i deficiency biolink:Disease mondo GARD:0000758 http://purl.obolibrary.org/obo/MONDO_0022481 gard_rare MONDO:0022482 obsolete apolipoprotein C 2i deficiency biolink:Disease mondo GARD:0000759 http://purl.obolibrary.org/obo/MONDO_0022482 gard_rare GO:0016485 protein processing biolink:OntologyClass mondo Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/GO_0016485 protein maturation by peptide bond hydrolysis|protein maturation by peptide bond cleavage|protein maturation by proteolysis|peptidolysis during protein maturation GO:0016482 cytosolic transport biolink:OntologyClass mondo The directed movement of substances or organelles within the cytosol. http://purl.obolibrary.org/obo/GO_0016482 GO:1905082 regulation of mitochondrial translational elongation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of mitochondrial translational elongation. http://purl.obolibrary.org/obo/GO_1905082 regulation of mitochondrial translation elongation GO:1905083 negative regulation of mitochondrial translational elongation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation. http://purl.obolibrary.org/obo/GO_1905083 inhibition of mitochondrial translation elongation|down-regulation of mitochondrial translation elongation|negative regulation of mitochondrial translation elongation|downregulation of mitochondrial translational elongation|down regulation of mitochondrial translational elongation|downregulation of mitochondrial translation elongation|inhibition of mitochondrial translational elongation|down-regulation of mitochondrial translational elongation|down regulation of mitochondrial translation elongation GO:1905084 positive regulation of mitochondrial translational elongation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation. http://purl.obolibrary.org/obo/GO_1905084 upregulation of mitochondrial translation elongation|up regulation of mitochondrial translational elongation|activation of mitochondrial translational elongation|positive regulation of mitochondrial translation elongation|up-regulation of mitochondrial translational elongation|up regulation of mitochondrial translation elongation|activation of mitochondrial translation elongation|up-regulation of mitochondrial translation elongation|upregulation of mitochondrial translational elongation HP:0001637 Abnormal myocardium morphology biolink:PhenotypicFeature mondo UMLS:C4025758 A structural anomaly of the muscle layer of the heart wall. http://purl.obolibrary.org/obo/HP_0001637 Abnormality of the myocardium HP:0001638 Cardiomyopathy biolink:PhenotypicFeature mondo MSH:D009202|Fyler:1840|UMLS:C0878544|SNOMEDCT_US:57809008|SNOMEDCT_US:85898001 A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. http://purl.obolibrary.org/obo/HP_0001638 Disease of the heart muscle HP:0001635 Congestive heart failure biolink:PhenotypicFeature mondo SNOMEDCT_US:42343007|MSH:D006333|SNOMEDCT_US:84114007|UMLS:C0018802|UMLS:C0018801 The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. http://purl.obolibrary.org/obo/HP_0001635 Heart failure|Chronic heart failure|Cardiac insufficiency|Cardiac failures|Cardiac failure|CHF MONDO:0022470 aortic dissection lentiginosis biolink:Disease mondo GARD:0000742 A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis. http://purl.obolibrary.org/obo/MONDO_0022470 gard_rare MONDO:0022471 childhood aortic valve stenosis biolink:Disease mondo GARD:0000744 http://purl.obolibrary.org/obo/MONDO_0022471 aortic valves stenosis of the child gard_rare MONDO:0010495 trichothiodystrophy 5, nonphotosensitive biolink:Disease mondo OMIM:300953|UMLS:C4225420 Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene. http://identifiers.org/omim/300953|UMLS:C4225420 http://purl.obolibrary.org/obo/MONDO_0010495 RNF113A nonphotosensitive trichothiodystrophy|trichothiodystrophy 5, nonphotosensitive; TTD5|nonphotosensitive trichothiodystrophy caused by mutation in RNF113A|trichothiodystrophy 5, nonphotosensitive|TTD5 MONDO:0010494 linear skin defects with multiple congenital anomalies 3 biolink:Disease mondo OMIM:300952|UMLS:C4225421 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene. http://identifiers.org/omim/300952|UMLS:C4225421 http://purl.obolibrary.org/obo/MONDO_0010494 linear skin defects with multiple congenital anomalies type 3|linear skin defects with multiple congenital anomalies 3|linear skin defects with cardiomyopathy and Other congenital anomalies|LSDMCA3|linear skin defects with multiple congenital anomalies 3; LSDMCA3|microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11|NDUFB11 microphthalmia with linear skin defects syndrome MONDO:0010497 intellectual disability, X-linked 102 biolink:Disease mondo OMIM:300958|GARD:0012715|NCIT:C129931|UMLS:C4085582 An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features. http://identifiers.org/omim/300958|NCIT:C129931|UMLS:C4085582 http://purl.obolibrary.org/obo/MONDO_0010497 DDX3X non-syndromic X-linked intellectual disability|DDX3X-related intellectual disability|mental retardation, X-linked 102|intellectual disability, X-linked 102|intellectual disability, X-linked type 102|MRX102|intellectual disability, X-linked 102; MRX102|non-syndromic X-linked intellectual disability caused by mutation in DDX3X|mental retardation, X-linked type 102|mental retardation, X-linked 102; MRX102 MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome biolink:Disease mondo Orphanet:457240|UMLS:C0796218|OMIM:300957 X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted. ORPHA:457240|UMLS:C0796218|http://identifiers.org/omim/300957 http://purl.obolibrary.org/obo/MONDO_0010496 intellectual disability, X-linked type 12|intellectual disability, X-linked 12|intellectual disability, X-linked 12; MRX12|mental retardation, X-linked 12|MRX12|mental retardation, X-linked 12; MRX12|mental retardation, X-linked type 12|intellectual disability, X-linked 35|mental retardation, X-linked 35 ordo_malformation_syndrome MONDO:0010499 Ritscher-Schinzel syndrome 2 biolink:Disease mondo DOID:0060572|UMLS:C4225419|OMIM:300963 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene. DOID:0060572|http://identifiers.org/omim/300963|UMLS:C4225419 http://purl.obolibrary.org/obo/MONDO_0010499 Ritscher-Schinzel syndrome type 2|RTSC2|CCDC22 Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome 2; RTSC2|Ritscher-Schinzel syndrome 2|Ritscher-Schinzel syndrome caused by mutation in CCDC22 MONDO:0010498 MEND syndrome biolink:Disease mondo OMIM:300960|UMLS:C4085243|Orphanet:401973|ICD10:Q87.8 http://identifiers.org/omim/300960|ORPHA:401973|UMLS:C4085243 http://purl.obolibrary.org/obo/MONDO_0010498 MEND syndrome; MEND|Male EBP disorder with neurological defects|MEND|MEND syndrome|Male EBP disorder with neurologic defects ordo_malformation_syndrome MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication biolink:Disease mondo ICD10:E22.0|UMLS:C3891556|Orphanet:448372|UMLS:CN237731|SCTID:768472004|OMIM:300942 http://identifiers.org/omim/300942|UMLS:C3891556|ORPHA:448372|UMLS:CN237731|SNOMEDCT:768472004 http://purl.obolibrary.org/obo/MONDO_0010491 familial infantile gigantism due to dup(X)q(26)|X-linked acrogigantism|familial infantile gigantism due to Xq26 microduplication|X-LAG (X-linked acrogigantism) due to dup(X)q(26)|chromosome Xq26 microduplication syndrome|chromosome Xq26.3 DUPLICATION syndrome ordo_etiological_subtype GO:0016491 oxidoreductase activity biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity, acting on other substrates|redox activity MONDO:0010490 SSR4-CDG biolink:Disease mondo DOID:0070257|ICD10:E77.8|Orphanet:370927|GARD:0012405|UMLS:C4012395|OMIM:300934|SCTID:733115009 (Xq28). DOID:0070257|ORPHA:370927|http://identifiers.org/omim/300934|SNOMEDCT:733115009|UMLS:C4012395 http://purl.obolibrary.org/obo/MONDO_0010490 CDGIy|congenital disorder of glycosylation type 1y|CDG-Iy|carbohydrate deficient glycoprotein syndrome type Iy|CDG1Y|congenital disorder of glycosylation, type Iy|CDG 1Y|congenital disorder of glycosylation, type Iy; CDG1Y|CDG syndrome type Iy|congenital disorder of glycosylation type Iy|CDG Iy ordo_disease MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis biolink:Disease mondo OMIM:300946|UMLS:C4225422 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene. http://identifiers.org/omim/300946|UMLS:C4225422 http://purl.obolibrary.org/obo/MONDO_0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis|DBA14|Diamond-Blackfan anemia caused by mutation in TSR2|Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; DBA14|TSR2 Diamond-Blackfan anemia MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 biolink:Disease mondo OMIM:300943|UMLS:C4012409 Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene. http://identifiers.org/omim/300943|UMLS:C4012409 http://purl.obolibrary.org/obo/MONDO_0010492 pituitary adenoma 2, growth hormone-secreting; PITA2|pituitary adenoma, Growth hormone-secreting, type 2|acromegaly due to pituitary adenoma 2|pituitary gland adenoma caused by mutation in GPR101|GPR101 pituitary gland adenoma|pituitary adenoma 2, Growth hormone-secreting|acromegaly, X-linked|PAGH2|pituitary adenoma, growth hormone-secreting, 2|PITA2|pituitary adenoma, growth hormone-secreting, 2; PAGH2 MONDO:0009409 hypervitaminosis a, susceptibility to biolink:Disease mondo OMIM:240150 http://identifiers.org/omim/240150 http://purl.obolibrary.org/obo/MONDO_0009409 hypervitaminosis a, susceptibility to predisposition MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase biolink:Disease mondo OMIM:240000|UMLS:C1855884|MESH:C565489 MESH:C565489|UMLS:C1855884|http://identifiers.org/omim/240000 http://purl.obolibrary.org/obo/MONDO_0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase MONDO:0009407 hypertrophic neuropathy and cataract biolink:Disease mondo OMIM:239900|UMLS:C1855885|MESH:C565490 MESH:C565490|http://identifiers.org/omim/239900|UMLS:C1855885 http://purl.obolibrary.org/obo/MONDO_0009407 hypertrophic neuropathy and cataract MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type biolink:Disease mondo DOID:0060569|SCTID:239087008|ICD10:Q87.3|Orphanet:1517|MESH:C535572|OMIM:239850|UMLS:C0795905|GARD:0008585 Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. SNOMEDCT:239087008|ORPHA:1517|UMLS:C0795905|MESH:C535572|http://identifiers.org/omim/239850|DOID:0060569 http://purl.obolibrary.org/obo/MONDO_0009406 hypertrichotic osteochondrodysplasia|Cantu syndrome|hypertrichotic osteochondrodysplasia, Cantu type|Craniofaciocardioskeletal syndrome ordo_malformation_syndrome|gard_rare UBERON:0018261 muscular coat of digestive tract biolink:AnatomicalEntity mondo A muscular coat that is part of a digestive tract. http://purl.obolibrary.org/obo/UBERON_0018261 muscular layer of digestive tract|muscularis externa of digestive tract|tunica muscularis of digestive tract|tunica externa of digestive tract MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome biolink:Disease mondo GARD:0001226|Orphanet:2218|UMLS:C1855902|MESH:C565492|UMLS:C2931676|OMIM:239840 Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. MESH:C565492|http://identifiers.org/omim/239840|UMLS:C1855902|UMLS:C2931676|ORPHA:2218 http://purl.obolibrary.org/obo/MONDO_0009405 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy|cervical hypertrichosis peripheral neuropathy ordo_disease|gard_rare MONDO:0009404 hypertelorism, microtia, facial clefting syndrome biolink:Disease mondo SCTID:721836009|DOID:14670|GARD:0000897|OMIM:239800|UMLS:C0220742|Orphanet:2213|ICD10:Q87.0|MESH:C537632 Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. MESH:C537632|DOID:14670|http://identifiers.org/omim/239800|UMLS:C0220742|SNOMEDCT:721836009|ORPHA:2213 http://purl.obolibrary.org/obo/MONDO_0009404 hypertelorism microtia facial clefting syndrome|Bixler syndrome|hypertelorism, microtia, facial clefting syndrome|Bixler-Christian-Gorlin syndrome|hypertelorism-microtia-clefting syndrome|hypertelorism-microtia-facial clefting syndrome|HMC syndrome|Bixler Christian Gorlin syndrome ordo_malformation_syndrome MONDO:0009403 hypertelorism and tetralogy of fallot biolink:Disease mondo OMIM:239711|UMLS:C1855903|MESH:C538386|GARD:0002848 http://identifiers.org/omim/239711|UMLS:C1855903|MESH:C538386 http://purl.obolibrary.org/obo/MONDO_0009403 hypertelorism and tetralogy of fallot gard_rare MONDO:0009402 hypertelorism-hypospadias-polysyndactyly syndrome biolink:Disease mondo ICD10:Q87.8|GARD:0000287|MESH:C538332|Orphanet:2211|OMIM:239710|SCTID:721835008 Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. http://identifiers.org/omim/239710|UMLS:C1855904|MESH:C538332|SNOMEDCT:721835008|ORPHA:2211 http://purl.obolibrary.org/obo/MONDO_0009402 acrofrontofacionasal dysostosis with genitourinary anomalies|Naguib syndrome|acrofrontofacionasal dysostosis, severe|acrofrontofacionasal dysostosis type 2|acrofrontofacionasal syndrome type 2|Affn dysostosis 2|hypertelorism hypospadias polysyndactyly syndrome|hypertelorism, hypospadias, and polysyndactyly syndrome|acrofrontofacionasal dysostosis 2|Naguib-Richieri-Costa syndrome ordo_malformation_syndrome MONDO:0009401 hyperprolinemia type 2 biolink:Disease mondo ICD10:E72.5|OMIM:239510|UMLS:C2931835|GARD:0006710|MESH:C538385|MedDRA:10058514|SCTID:717181004|MedDRA:10058512|Orphanet:79101 Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. http://identifiers.org/omim/239510|SNOMEDCT:717181004|ORPHA:79101|MEDDRA:10058514|MEDDRA:10058512|UMLS:C2931835|UMLS:C0268530|MESH:C538385 http://purl.obolibrary.org/obo/MONDO_0009401 ALDH4A1 hyperprolinemia|HPII|1-pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia caused by mutation in ALDH4A1|HYRPRO2|hyperprolinemia, type 2|hyperprolinemia, type II; HYRPRO2|type 2 hyperprolinemia|1 alpha pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia, type II|delta1-pyrroline-5-carboxylate dehydrogenase deficiency ordo_disease|gard_rare MONDO:0009400 hyperprolinemia type 1 biolink:Disease mondo ICD10:E72.5|Orphanet:419|SCTID:61071003|MedDRA:10058513|ICD9:270.8|OMIM:239500 Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2). ORPHA:419|http://identifiers.org/omim/239500|MEDDRA:10058513|SNOMEDCT:61071003 http://purl.obolibrary.org/obo/MONDO_0009400 hyperprolinemia, type I; HYRPRO1|PRODH hyperprolinemia|HPI|HYRPRO1|hyperprolinemia caused by mutation in PRODH|hyperprolinemia, type I|hyperprolinemia, type 1|proline oxidase deficiency ordo_disease UBERON:0006289 rib pre-cartilage condensation biolink:AnatomicalEntity mondo A rib endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0006289 HGNC:4573 GRIA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4573 UBERON:0006288 rib cartilage element biolink:AnatomicalEntity mondo A rib endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0006288 UBERON:0006287 radius-ulna pre-cartilage condensation biolink:AnatomicalEntity mondo A radius-ulna endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0006287 UBERON:0006286 radius cartilage element biolink:AnatomicalEntity mondo A cartilaginous condensation that has the potential to develop into a radius bone. http://purl.obolibrary.org/obo/UBERON_0006286 HGNC:4570 GRHPR biolink:OntologyClass mondo http://identifiers.org/hgnc/4570 MONDO:0010400 X-linked scapuloperoneal muscular dystrophy biolink:Disease mondo Orphanet:431272|OMIM:300695|GARD:0007608|UMLS:C2678061|ICD10:G71.0 X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging. ORPHA:431272|UMLS:C2678061|http://identifiers.org/omim/300695 http://purl.obolibrary.org/obo/MONDO_0010400 X-linked SPMD|scapuloperoneal myopathy, X-linked dominant|X-linked scapuloperoneal syndrome|SPM|scapuloperoneal myopathy, X-linked dominant; SPM|scapuloperoneal myopathy, FHL1-related ordo_disease UBERON:0006285 pubic pre-cartilage condensation biolink:AnatomicalEntity mondo A pubic endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0006285 UBERON:0006284 early prosencephalic vesicle biolink:AnatomicalEntity mondo future brain vesicle that gives rise to telencephalic ventricle/lateral ventricles and 3rd ventricle http://purl.obolibrary.org/obo/UBERON_0006284 forebrain vesicle|prosencephalic ventricle|preevaginated forebrain vesicle|prosencephalic vesicle|forebrain ventricle MONDO:0010402 syndromic X-linked intellectual disability 94 biolink:Disease mondo UMLS:C2678051|ICD10:F72|DOID:0060823|OMIM:300699|MESH:C567479 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25. DOID:0060823|UMLS:C2678051|http://identifiers.org/omim/300699|MESH:C567479 http://purl.obolibrary.org/obo/MONDO_0010402 mental retardation, X-linked, syndromic, Wu type; MRXSW|intellectual disability, X-linked, syndromic, Wu type; MRXSW|intellectual disability, X-linked 94|syndromic X-linked intellectual disability type 94|mental retardation, X-linked 94|intellectual disability, X-linked, syndromic, Wu type|MRXSW|syndromic X-linked mental retardation 29|syndromic X-linked intellectual disability due to GRIA3 anomalies|MRX94|syndromic X-linked intellectual disability 29|syndromic X-linked mental retardation Wu type|syndromic X-linked intellectual disability Wu type|mental retardation, X-linked, syndromic 29|intellectual disability, X-linked, syndromic 29|mental retardation, X-linked, syndromic, Wu type|MRXS29 UBERON:0006283 future cardiac ventricle biolink:AnatomicalEntity mondo Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. http://purl.obolibrary.org/obo/UBERON_0006283 primordial ventricle|early heart ventricle|future heart ventricle|presumptive cardiac ventricle heart tube|primitive ventricle|primitive ventricle of heart|primordial cardiac ventricle|embryonic heart ventricle|embryonic ventricle MONDO:0010401 X-linked myopathy with postural muscle atrophy biolink:Disease mondo DOID:0070251|ICD10:G71.0|OMIM:300696|UMLS:C2678055|Orphanet:178461 X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. UMLS:C2678055|DOID:0070251|http://identifiers.org/omim/300696|ORPHA:178461 http://purl.obolibrary.org/obo/MONDO_0010401 myopathy, X-linked, with postural muscle atrophy; XMPMA|myopathy, X-linked, with postural muscle atrophy|XMPMA|Emery-Dreifuss muscular dystrophy 6, X-linked ordo_disease UBERON:0018260 layer of muscle tissue biolink:AnatomicalEntity mondo Any organ component layer that consists of muscle tissue. http://purl.obolibrary.org/obo/UBERON_0018260 HGNC:4576 GRID2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4576 UBERON:0018256 lacrimal vein biolink:AnatomicalEntity mondo A vein that drains a lacrimal gland. http://purl.obolibrary.org/obo/UBERON_0018256 UBERON:0018257 submucosa of digestive tract biolink:AnatomicalEntity mondo Any portion of submucosa that lines the digestive tract. http://purl.obolibrary.org/obo/UBERON_0018257 UBERON:0018254 skeletal musculature biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0018254 UBERON:0018255 jejunal artery biolink:AnatomicalEntity mondo A branch of the superior mesenteric artery that supplies the jejunum. http://purl.obolibrary.org/obo/UBERON_0018255 jejunal branch of superior mesenteric artery MONDO:0009419 Woodhouse-Sakati syndrome biolink:Disease mondo MESH:C536742|OMIM:241080|ICD10:Q87.8|SCTID:237616002|UMLS:C0342286|Orphanet:3464|ICD9:759.89|GARD:0005592 Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. SNOMEDCT:237616002|UMLS:C0342286|MESH:C536742|http://identifiers.org/omim/241080|ORPHA:3464 http://purl.obolibrary.org/obo/MONDO_0009419 hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities|woodhouse-Sakati syndrome|woodhouse Sakati syndrome|diabetes-hypogonadism-deafness-intellectual disability syndrome|hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities|hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia|hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia gard_rare|ordo_disease MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly biolink:Disease mondo OMIM:241000|MESH:C565482|UMLS:C1855858 MESH:C565482|http://identifiers.org/omim/241000|UMLS:C1855858 http://purl.obolibrary.org/obo/MONDO_0009418 hypogonadism with low-grade mental deficiency and microcephaly MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome biolink:Disease mondo ICD10:E29.1|UMLS:C1855859|Orphanet:2410|OMIM:240950|SCTID:721233005|GARD:0000298|MESH:C543092 This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. UMLS:C1855859|MESH:C543092|SNOMEDCT:721233005|http://identifiers.org/omim/240950|ORPHA:2410 http://purl.obolibrary.org/obo/MONDO_0009417 hypogonadism-cataract syndrome|cataracts and testicular failure|Lubinsky syndrome|hypogonadism cataract syndrome ordo_malformation_syndrome MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy biolink:Disease mondo OMIM:240900|UMLS:CN203155|Orphanet:293964 UMLS:CN203155|ORPHA:293964|http://identifiers.org/omim/240900 http://purl.obolibrary.org/obo/MONDO_0009416 hypoinsulinemic hypoglycemia with hemihypertrophy|hypoinsulinemic hypoglycemia with hemihypertrophy; HIHGHH|HIHGHH ordo_disease UBERON:0018251 meningeal vein biolink:AnatomicalEntity mondo One of the veins draining a meninix. http://purl.obolibrary.org/obo/UBERON_0018251 MONDO:0009415 hypoglycemia, leucine-induced biolink:Disease mondo EFO:0006856|GARD:0009915|OMIM:240800|SCTID:62151007|UMLS:C0271714|MESH:C537150 SNOMEDCT:62151007|http://identifiers.org/omim/240800|MESH:C537150|UMLS:C0271714 http://purl.obolibrary.org/obo/MONDO_0009415 hypoglycemia, leucine-induced|LIH|hypoglycemia leucine-induced|hypoglycemia, leucine-induced; LIH|hypoglycemia leucine induced|leucine-sensitive hypoglycemia of infancy|familial infantile hypoglycemia precipitated by leucine MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency biolink:Disease mondo OMIM:240600|MESH:C565485|ICD10:E74.0|GARD:0002513|Orphanet:2089|UMLS:C0342748|UMLS:C1855861|SCTID:237964009|GARD:0002889 Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. SNOMEDCT:237964009|MESH:C565485|UMLS:C0342748|UMLS:C1855861|http://identifiers.org/omim/240600|ORPHA:2089 http://purl.obolibrary.org/obo/MONDO_0009414 GSD type 0a|glycogen storage disease type 0a|liver glycogen storage disease 0|glycogen storage disease type 0|hypoglycemia with deficiency of glycogen synthetase in the liver|glycogen storage disease due to liver glycogen synthase deficiency|liver glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of liver|GSD0A|liver glycogen synthase deficiency|hepatic glycogen synthase deficiency|glycogen storage disease 0, liver; GSD0A|GSD 0A|glycogenosis type 0a|glycogen storage disease type 0, liver|liver GSD 0|GSD due to hepatic glycogen synthase deficiency|glycogen storage disease 0, liver|glycogen synthase deficiency ordo_disease NCBITaxon:28450 Burkholderia pseudomallei organism taxon mondo GC_ID:11|PMID:12734250|PMID:1283774 http://purl.obolibrary.org/obo/NCBITaxon_28450 Bacterium whitmori|Malleomyces pseudomallei|Pseudomonas pseudomallei|Bacillus pseudomallei|Loefflerella pseudomallei MONDO:0009413 immunodeficiency, common variable, 2 biolink:Disease mondo OMIM:240500|UMLS:C3150354 UMLS:C3150354|http://identifiers.org/omim/240500 http://purl.obolibrary.org/obo/MONDO_0009413 hypogammaglobulinemia due to TACI deficiency|antibody deficiency due to TACI defect|immunodeficiency, common variable, type 2|immunodeficiency, common variable, 2; CVID2|immunodeficiency, common variable, 2|CVID2 MONDO:0009412 scurvy biolink:Disease mondo MedDRA:10039768|OMIM:240400|ICD10:E54|NCIT:C35010|GARD:0010406|UMLS:C0036474|DOID:13724|MESH:D012614|EFO:1001169 Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur. MESH:D012614|UMLS:C0036474|DOID:13724|http://identifiers.org/omim/240400|NCIT:C35010 http://purl.obolibrary.org/obo/MONDO_0009412 L-gulonolactone oxidase, nonfunctional|hypoascorbemia|scorbutus|Gulo, nonfunctional|vitamin C, inability to synthesize|vitamin C deficiency|L-gulonolactone oxidase pseudogene|deficiency of vitamin C|scurvy gard_rare MONDO:0009411 autoimmune polyendocrine syndrome type 1 biolink:Disease mondo GARD:0005558|Orphanet:3453|ICD9:258.8|ICD10:E31.0|DOID:0050167|OMIM:240300|SCTID:11244009|NCIT:C129727|UMLS:C0085859|GARD:0008466 Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. UMLS:C3494489|NCIT:C129727|http://identifiers.org/omim/240300|ORPHA:3453|MESH:C538275|SNOMEDCT:11244009|UMLS:C0085859|DOID:0050167 http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrinopathy syndrome type 1|autoimmune polyglandular syndrome, type 1|autoimmune polyendocrinopathy type 1|autoimmune polyendocrine syndrome type 1|ham syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|polyglandular autoimmune syndrome, type 1|hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis|autoimmune polyendocrinopathy caused by mutation in AIRE|autoimmune polyendocrinopathy caused by mutation in aire|PGA 1|autoimmune polyglandular syndrome type 1|autoimmune polyglandular syndrome I|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)|autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia; APS1|autoimmune polyendocrinopathy syndrome, type I, autosomal dominant|APS type 1|hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|Whitaker syndrom|APECED syndrome|autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome|APS 1|Whitaker syndrome|AIRE autoimmune polyendocrinopathy|multiple endocrine deficiency-Addison disease-candidiasis syndrome|MEDAC syndrome|polyglandular autoimmune syndrome type 1|aire autoimmune polyendocrinopathy|autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia|polyglandular deficiency syndrome, Persian-Jewish type|APS1 ordo_disease|gard_rare MONDO:0009410 Addison disease biolink:Disease mondo ICD9:255.41|MedDRA:10001130|NCIT:C113814|ICD10:E27.1|SCTID:373662000|DOID:13774|COHD:4160059|GARD:0005740|OMIM:240200|Orphanet:85138|UMLS:C0271737 Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI). DOID:13774|SNOMEDCT:373662000|MEDDRA:10001130|NCIT:C113814|http://identifiers.org/omim/240200|UMLS:C0271737|UMLS:C0001403|ORPHA:85138|MESH:D000224 http://purl.obolibrary.org/obo/MONDO_0009410 autoimmune primary adrenal insufficiency|adrenal aplasia|Addison disease, chronic adrenal insufficiency|hypoadrenocorticism familial|autoimmune adrenalitis|autoimmune Addison disease|hypoadrenocorticism, familial|adrenal hypoplasia|Addison disease|primary adrenocortical insufficiency|primary hypoadrenalism|Addison's disease|primary Addison's disease|adrenal gland hypofunction|autoimmune Addison's disease|classic Addison's disease ordo_disease CHEBI:77182 food colouring biolink:ChemicalSubstance mondo A food additive that imparts colour to food. In European countries, E-numbers for permitted food colours are from E 100 to E 199, divided into yellows (E 100-109), oranges (E 110-119), reds (E 120-129), blues and violets (E 130-139), greens (E 140-149), browns and blacks (E 150-159), and others (E 160-199). http://purl.obolibrary.org/obo/CHEBI_77182 food colorings|food coloring|food colourings HGNC:4584 GRIN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4584 NCBITaxon:53436 Treponema pallidum subsp. endemicum organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_53436 Treponema pallidum endemicum HGNC:4580 GRIK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4580 UBERON:0006273 otic pit biolink:AnatomicalEntity mondo the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles http://purl.obolibrary.org/obo/UBERON_0006273 otic cup UBERON:0006272 oronasal cavity biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006272 UBERON:0006271 orbital fissure biolink:AnatomicalEntity mondo Either of two openings transmitting nerves and blood vessels to or from the orbit. http://purl.obolibrary.org/obo/UBERON_0006271 HGNC:4588 GRIN2D biolink:OntologyClass mondo http://identifiers.org/hgnc/4588 HGNC:4586 GRIN2B biolink:OntologyClass mondo http://identifiers.org/hgnc/4586 UBERON:0006279 pleuroperitoneal canal biolink:AnatomicalEntity mondo Each of the canals that links the peritoneal cavity and the caudal part of a pleural cavity. http://purl.obolibrary.org/obo/UBERON_0006279 pleuroperitoneal channel HGNC:4585 GRIN2A biolink:OntologyClass mondo http://identifiers.org/hgnc/4585 UBERON:0018246 thyroid vein biolink:AnatomicalEntity mondo A vein that drains a thyroid gland. http://purl.obolibrary.org/obo/UBERON_0018246 NCBITaxon:186817 Bacillaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_186817 UBERON:0018243 thymic artery biolink:AnatomicalEntity mondo A vein that supplies blood to the thymus. http://purl.obolibrary.org/obo/UBERON_0018243 thymic arteries|thymic branch of internal thoracic artery UBERON:0018247 cervical thymic artery biolink:AnatomicalEntity mondo An artery that supplies a cervical thymus. http://purl.obolibrary.org/obo/UBERON_0018247 UBERON:0006267 notochordal plate biolink:AnatomicalEntity mondo The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. http://purl.obolibrary.org/obo/UBERON_0006267 UBERON:0006266 nasolacrimal groove biolink:AnatomicalEntity mondo Groove between maxillary prominence and lateral nasal process. http://purl.obolibrary.org/obo/UBERON_0006266 s. lacrimalis maxillae|naso-lacrimal groove HGNC:4593 GRM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4593 UBERON:0006264 mouth-foregut junction biolink:AnatomicalEntity mondo An anatomical junctions that overlaps the mouth and foregut. http://purl.obolibrary.org/obo/UBERON_0006264 UBERON:0006261 male genital tubercle biolink:AnatomicalEntity mondo A differentiated genital tubercle that is part of a male reproductive system. http://purl.obolibrary.org/obo/UBERON_0006261 genital tubercle of male|penis anlage UBERON:0006260 lingual swellings biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006260 lingual swelling CHEBI:16234 hydroxide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_16234 hydridooxygenate(1-)|hydroxide|HO-|OH-|oxidanide|OH(-)|HYDROXIDE ION|Hydroxide ion HGNC:4598 GRM6 biolink:OntologyClass mondo http://identifiers.org/hgnc/4598 UBERON:0006268 notochordal process biolink:AnatomicalEntity mondo A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot http://purl.obolibrary.org/obo/UBERON_0006268 chordamesoderm|presumptive notochord UBERON:0018234 stroma of pancreas biolink:AnatomicalEntity mondo A stroma that is part of a pancreas. http://purl.obolibrary.org/obo/UBERON_0018234 pancreatic stroma UBERON:0018235 capsule of pancreas biolink:AnatomicalEntity mondo A capsule that divides the parenchyma of the pancreas into lobes and lobules http://purl.obolibrary.org/obo/UBERON_0018235 pancreatic capsule UBERON:0018232 axillary sweat gland biolink:AnatomicalEntity mondo A sweat gland that is part of a axilla. http://purl.obolibrary.org/obo/UBERON_0018232 axillary apocrine sweat gland|sweat gland of axilla UBERON:0018239 rhombomere boundary biolink:AnatomicalEntity mondo A boundary delimiting a rhombomere. http://purl.obolibrary.org/obo/UBERON_0018239 rhombomere junction UBERON:0006256 knee joint primordium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006256 UBERON:0006255 ischial pre-cartilage condensation biolink:AnatomicalEntity mondo A ischial endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0006255 UBERON:0006254 ischial cartilage element biolink:AnatomicalEntity mondo A ischial endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0006254 ischial cartilage condensation NCBITaxon:186801 Clostridia organism taxon mondo GC_ID:11|PMID:31076745|PMID:26410691 http://purl.obolibrary.org/obo/NCBITaxon_186801 NCBITaxon:186804 Peptostreptococcaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_186804 Clostridium cluster XI NCBITaxon:186802 Clostridiales organism taxon mondo GC_ID:11|PMID:24480908|PMID:16558750 http://purl.obolibrary.org/obo/NCBITaxon_186802 Eubacteriales IAO:0000428 requires discussion biolink:OntologyClass mondo A term that is metadata complete, has been reviewed, and problems have been identified that require discussion before release. Such a term requires editor note(s) to identify the outstanding issues. http://purl.obolibrary.org/obo/IAO_0000428 MONDO:0022423 obsolete alpha-2 deficient collagen disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022423 MONDO:0022424 alpha-mannosidosis type 1 biolink:Disease mondo UMLS:C2931251|MESH:C536584 MESH:C536584|UMLS:C2931251 http://purl.obolibrary.org/obo/MONDO_0022424 MONDO:0009449 ciliary dyskinesia with defective radial spokes biolink:Disease mondo GARD:0002981|ICD9:759.89|UMLS:C0340035|MESH:C536286|SCTID:233664005|OMIM:242670 http://identifiers.org/omim/242670|UMLS:C0340035|SNOMEDCT:233664005|MESH:C536286 http://purl.obolibrary.org/obo/MONDO_0009449 immotile cilia syndrome due to defective radial spokes|ciliary dyskinesia with defective radial spokes|immotile cilia syndrome, due to defective radial spokes|cilia with defective radial spokes MONDO:0022425 alpha-thalassemia-abnormal morphogenesis biolink:Disease mondo GARD:0000362 http://purl.obolibrary.org/obo/MONDO_0022425 homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects|Abuelo Forman Rubin syndrome gard_rare MONDO:0009448 iminoglycinuria biolink:Disease mondo OMIM:242600|MESH:C536285|GARD:0008424|SCTID:84121007|Orphanet:42062|ICD9:270.8|UMLS:C0268654|ICD10:E72.0 Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait. http://identifiers.org/omim/242600|SNOMEDCT:84121007|UMLS:C0268654|MESH:C536285|ORPHA:42062 http://purl.obolibrary.org/obo/MONDO_0009448 iminoglycinuria gard_rare|ordo_disease MONDO:0010437 severe X-linked mitochondrial encephalomyopathy biolink:Disease mondo UMLS:C3151753|SCTID:722212004|OMIM:300816|ICD10:G31.8|Orphanet:238329|UMLS:C4302745 Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. http://identifiers.org/omim/300816|ORPHA:238329|UMLS:C3151753|SNOMEDCT:722212004|UMLS:C4302745 http://purl.obolibrary.org/obo/MONDO_0010437 mitochondrial encephalomyopathy due to COXPD6|combined oxidative phosphorylation deficiency 6; COXPD6|combined oxidative phosphorylation deficiency 6|encephalomyopathy, mitochondrial, X-linked|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|combined oxidative phosphorylation deficiency type 6|COXPD6 ordo_disease MONDO:0009447 ichthyosis, split hairs, and amino aciduria biolink:Disease mondo MESH:C565471|UMLS:C1855786|OMIM:242550 UMLS:C1855786|http://identifiers.org/omim/242550|MESH:C565471 http://purl.obolibrary.org/obo/MONDO_0009447 ichthyosis, split hairs, and amino aciduria MONDO:0010436 chromosome Xq28 duplication syndrome biolink:Disease mondo MESH:C567580|OMIM:300815|UMLS:C2749007 http://identifiers.org/omim/300815|MESH:C567580|UMLS:C2749007 http://purl.obolibrary.org/obo/MONDO_0010436 chromosome Xq28 duplication syndrome MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome biolink:Disease mondo MESH:C536274|OMIM:242530|GARD:0004641|UMLS:C1855787|Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. http://identifiers.org/omim/242530|ORPHA:2278|MESH:C536274|UMLS:C1855787 http://purl.obolibrary.org/obo/MONDO_0009446 Passwell-Goodman-Siprkowski syndrome|ichthyosis intellectual deficit dwarfism renal impairment|ichthyosis, intellectual disability, dwarfism and renal impairment|ichthyosis, mental retardation, dwarfism, and renal impairment|ichthyosis, intellectual disability, dwarfism, and renal impairment|ichthyosis, mental retardation, dwarfism and renal impairment ordo_malformation_syndrome MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification biolink:Disease mondo GARD:0008311|OMIM:300829|MESH:C543241|UMLS:C1853577 MESH:C543241|http://identifiers.org/omim/300829|UMLS:C1853577 http://purl.obolibrary.org/obo/MONDO_0010439 cardiomyopathy, fatal fetal, due to myocardial calcification|myocardial calcifications resulting in intrauterine fetal death gard_rare MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 biolink:Disease mondo OMIM:300818|UMLS:C3806670 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. UMLS:C3806670|http://identifiers.org/omim/300818 http://purl.obolibrary.org/obo/MONDO_0010438 paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA|paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA|PIGA paroxysmal nocturnal hemoglobinuria|pIgA paroxysmal nocturnal hemoglobinuria|PNH1|paroxysmal nocturnal hemoglobinuria 1|paroxysmal nocturnal hemoglobinuria type 1|paroxysmal nocturnal hemoglobinuria 1; PNH1 MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome biolink:Disease mondo OMIM:242520|GARD:0001993|ICD9:571.8|SCTID:403779009|MESH:C535727|UMLS:C1275088|ICD10:Q87.8|Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. http://identifiers.org/omim/242520|MESH:C535727|UMLS:C1275088|ORPHA:2274|SNOMEDCT:403779009 http://purl.obolibrary.org/obo/MONDO_0009445 Dykes-Markes-Harper syndrome|Dykes-Marks-Harper syndrome|Dykes Markes Harper syndrome|ichthyosis, hepatosplenomegaly, and cerebellar degeneration ordo_disease MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome biolink:Disease mondo OMIM:242510|MESH:C537364|Orphanet:2269|GARD:0000292|UMLS:C1855788 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. ORPHA:2269|MESH:C537364|UMLS:C1855788|http://identifiers.org/omim/242510 http://purl.obolibrary.org/obo/MONDO_0009444 Jagell-Holmgren-Hofer syndrome|ichthyosis alopecia eclabion ectropion mental retardation|ichthyosis alopecia eclabion ectropion intellectual disability|ichthyosis with alopecia, eclabium, ectropion, and intellectual disability|Jagell Holmgren Hofer syndrome|ichthyosis with alopecia, eclabium, ectropion, and mental retardation ordo_disease MONDO:0009443 autosomal recessive congenital ichthyosis 4B biolink:Disease mondo Orphanet:457|GARD:0006568|MedDRA:10019163|DOID:0060713|ICD10:Q80.4|SCTID:205548006|OMIM:242500|UMLS:C0239849|NCIT:C98934 Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. DOID:0060713|NCIT:C98934|UMLS:C0598226|UMLS:C0239849|MEDDRA:10019163|ORPHA:457|SNOMEDCT:205548006|http://identifiers.org/omim/242500 http://purl.obolibrary.org/obo/MONDO_0009443 ARCI4B|ichthyosis, congenital, autosomal recessive 4B|ichthyosis, congenital, autosomal recessive 4B; ARCI4B|Harlequin fetus|harlequin type ichthyosis fetalis|harlequin type ichthyosis congenita|ichthyosis fetalis, Harlequin type|harlequin ichthyosis|hi|'Harlequin fetus'|ichthyosis congenita, Harlequin type|autosomal recessive congenital ichthyosis type 4B|ichthyosis, congenital, autosomal recessive type 4B|ichthyosis congenita, Harlequin fetus type ordo_disease MONDO:0009442 ichthyosis congenita with biliary atresia biolink:Disease mondo GARD:0002948|SCTID:235916001|MESH:C562886|OMIM:242400 MESH:C562886|SNOMEDCT:235916001|http://identifiers.org/omim/242400 http://purl.obolibrary.org/obo/MONDO_0009442 ichthyosis congenita with biliary atresia|ichthyosis congenita biliary atresia|congenital ichthyosis with biliary atresia gard_rare MONDO:0009441 autosomal recessive congenital ichthyosis 1 biolink:Disease mondo ICD10:Q80.2|GARD:0003170|DOID:0060656|UMLS:C3536797|OMIM:242300 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene. DOID:0060656|UMLS:C3536797|http://identifiers.org/omim/242300 http://purl.obolibrary.org/obo/MONDO_0009441 ichthyosis, lamellar, 1, formerly|lamellar ichthyosis, type 1|lamellar exfoliation of newborn|ichthyosis, lamellar, 1|ichthyosis, congenital, autosomal recessive 1; ARCI1|ichthyosis, congenital, autosomal recessive type 1|bathing suit ichthyosis|autosomal recessive congenital ichthyosis type 1|LI1|ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution|ichthyosis congenita 2|ichthyosis congenita|desquamation of newborn|collodion baby, self-healing|ichthyosis lamellar 1|collodion fetus|ichthyosis, congenital, autosomal recessive 1|ARCI1 gard_rare MONDO:0010440 autism, susceptibility to, X-linked 4 biolink:Disease mondo GARD:0003775|OMIM:300830 http://identifiers.org/omim/300830 http://purl.obolibrary.org/obo/MONDO_0010440 autism, susceptibility to, X-linked 4|autism, susceptibility to, X-linked type 4|susceptibility to autism, X-linked|susceptibility to X-linked autism 4|AUTSX4|chromosome Xp22 deletion syndrome|autism, susceptibility to, X-linked 4; AUTSX4|X-linked susceptibility to autism-4 gard_rare|predisposition MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and deafness biolink:Disease mondo MESH:C537363|GARD:0002946|OMIM:242150|SCTID:403780007|UMLS:C1275089 MESH:C537363|http://identifiers.org/omim/242150|SNOMEDCT:403780007|UMLS:C1275089 http://purl.obolibrary.org/obo/MONDO_0009440 Desmons syndrome|ichthyosiform erythroderma, corneal involvement, and deafness|keratitis-ichthyosis-deafness syndrome, autosomal recessive|ichthyosiform erythroderma, corneal involvement, deafness|Kid syndrome, autosomal recessive MONDO:0010442 46,XX sex reversal 3 biolink:Disease mondo UMLS:C3151782|OMIM:300833 http://identifiers.org/omim/300833|UMLS:C3151782 http://purl.obolibrary.org/obo/MONDO_0010442 SRXX3|46,XX sex reversal 3|46,XX SEX reversal 3; SRXX3|chromosome Xq26 Duplication syndrome|chromosome Xq26 deletion syndrome|46,XX Sex reversal type 3|46,XX Sex reversal, Sox3-related MONDO:0010441 CK syndrome biolink:Disease mondo Orphanet:251383|OMIM:300831|UMLS:C3151781 UMLS:C3151781|ORPHA:251383|http://identifiers.org/omim/300831 http://purl.obolibrary.org/obo/MONDO_0010441 mental retardation, X-linked, with thin body habitus and cortical malformation|intellectual disability, X-linked, with thin body habitus and cortical malformation|CK syndrome|X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome ordo_malformation_syndrome MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia biolink:Disease mondo ICD10:D64.4|OMIM:300835|Orphanet:363727 http://identifiers.org/omim/300835|ORPHA:363727 http://purl.obolibrary.org/obo/MONDO_0010444 XLANP|anemia, X-linked, with or without neutropenia and/or platelet abnormalities; XLANP|anemia, X-linked, with or without neutropenia and/or platelet abnormalities ordo_disease MONDO:0010443 macular degeneration, X-linked atrophic biolink:Disease mondo OMIM:300834|UMLS:C3151784 http://identifiers.org/omim/300834|UMLS:C3151784 http://purl.obolibrary.org/obo/MONDO_0010443 macular degeneration, X-linked atrophic MONDO:0010446 X-linked cone dysfunction syndrome with myopia biolink:Disease mondo Orphanet:90001|ICD10:H53.8|OMIM:300843|SCTID:718718009|UMLS:C3159311|MESH:C564092 X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. http://identifiers.org/omim/300843|ORPHA:90001|UMLS:C3159311|MESH:C564092|SNOMEDCT:718718009 http://purl.obolibrary.org/obo/MONDO_0010446 myopia, high, with nonprogressive cone dysfunction|BORNHOLM eye disease; bed|bed|BORNHOLM eye disease|Bornholm eye disease ordo_disease MONDO:0010445 obsolete McLeod syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010445 GO:0090407 organophosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. http://purl.obolibrary.org/obo/GO_0090407 MONDO:0022417 alopecia congenita keratosis palmoplantaris biolink:Disease mondo MESH:C537050 MESH:C537050 http://purl.obolibrary.org/obo/MONDO_0022417 alopecia congenita with keratosis palmoplantaris|alopecia congenita with hyperkeratosis of the palms and soles MONDO:0022418 obsolete alopecia immunodeficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022418 MONDO:0022410 retinal ciliopathy biolink:Disease mondo Orphanet:156165 ORPHA:156165 http://purl.obolibrary.org/obo/MONDO_0022410 ordo_group_of_disorders MONDO:0022412 obsolete albinism immunodeficiency biolink:Disease mondo GARD:0000590 http://purl.obolibrary.org/obo/MONDO_0022412 gard_rare MONDO:0022413 Albright-like syndrome biolink:Disease mondo GARD:0000596 http://purl.obolibrary.org/obo/MONDO_0022413 Albright like syndrome gard_rare MONDO:0022414 allain-babin-demarquez syndrome biolink:Disease mondo GARD:0000124|Orphanet:1526 ORPHA:1526 http://purl.obolibrary.org/obo/MONDO_0022414 acro cephalo synostosis|craniosynostosis synostoses hypertensive nephropathy gard_rare MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive biolink:Disease mondo GARD:0012267|OMIM:243000|Orphanet:88642|ICD10:G60.8|UMLS:C1855739 A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) UMLS:C0020075|ORPHA:88642|UMLS:C0002768|http://identifiers.org/omim/243000|MESH:D000699|UMLS:C1855739 http://purl.obolibrary.org/obo/MONDO_0009459 insensitivity to pain, channelopathy-associated|congenital analgesia, autosomal recessive|indifference to pain, congenital, autosomal recessive|neuropathy, hereditary sensory and autonomic, type 2D|channelopathy-associated CIP|HSAN2D|HSAN2D, AR|indifference to pain, congenital, autosomal recessive; CIP|CIP|asymbolia for pain ordo_disease MONDO:0010426 X-linked endothelial corneal dystrophy biolink:Disease mondo Orphanet:293621|ICD10:H18.5|MESH:C567587|DOID:0060446|OMIM:300779|SCTID:718579008|UMLS:C2749049 X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. ORPHA:293621|SNOMEDCT:718579008|http://identifiers.org/omim/300779|UMLS:C2749049|MESH:C567587|DOID:0060446 http://purl.obolibrary.org/obo/MONDO_0010426 corneal dystrophy, endothelial, X-linked|XECD|corneal dystrophy, endothelial, X-linked; XECD|endothelial corneal dystrophy, X-linked ordo_disease MONDO:0009458 Schimke immuno-osseous dysplasia biolink:Disease mondo ICD10:Q77.7|OMIM:242900|Orphanet:1830|GARD:0004984|DOID:0060490|SCTID:723995003|MESH:C536629|MedDRA:10048699|UMLS:C0877024|NCIT:C135087 Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. UMLS:C0877024|DOID:0060490|http://identifiers.org/omim/242900|NCIT:C135087|MEDDRA:10048699|SNOMEDCT:723995003|ORPHA:1830|MESH:C536629 http://purl.obolibrary.org/obo/MONDO_0009458 SIOD|immunoosseous dysplasia Schimke type|Schimke immunoosseous dysplasia|IMMUNOOSSEOUS dysplasia, Schimke type|spondyloepiphyseal dysplasia nephrotic syndrome|Schimke IMMUNOOSSEOUS dysplasia; SIOD|Schimke Immunoosseous dysplasia|spondyloepiphyseal dysplasia-nephrotic syndrome|spondyloepiphyseal dysplasia - nephrotic syndrome|Schimke syndrome clingen|ordo_disease MONDO:0010425 Lisch epithelial corneal dystrophy biolink:Disease mondo OMIM:300778|UMLS:C2749050|ICD10:H18.5|MESH:C567588|SCTID:724175002|DOID:0060450|Orphanet:98955 Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. SNOMEDCT:724175002|http://identifiers.org/omim/300778|MESH:C567588|UMLS:C2749050|ORPHA:98955|DOID:0060450 http://purl.obolibrary.org/obo/MONDO_0010425 corneal dystrophy, Lisch epithelial; LECD|corneal dystrophy, Lisch epithelial|band-Shaped and whorled microcystic corneal epithelial dystrophy|LECD|band-shaped and whorled microcystic|band-shaped and whorled microcystic dystrophy of the corneal epithelium|Lisch epithelial corneal dystrophy ordo_disease MONDO:0009457 immunoglobulin d level in plasma, low biolink:Disease mondo OMIM:242890 http://identifiers.org/omim/242890 http://purl.obolibrary.org/obo/MONDO_0009457 IMMUNOGLOBULIN D level in plasma, LOW MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome biolink:Disease mondo ICD10:Q99.8|Orphanet:217377|GARD:0012766|MESH:C567585|SCTID:721881008|OMIM:300801|DOID:0060461 A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. ORPHA:217377|SNOMEDCT:721881008|http://identifiers.org/omim/300801|MESH:C567585|DOID:0060461 http://purl.obolibrary.org/obo/MONDO_0010428 microduplication Xp11.22-p11.23 syndrome|trisomy Xp11.22-p11.23|chromosome Xp11.23-p11.22 duplication syndrome ordo_malformation_syndrome MONDO:0009456 Immunoerythromyeloid hypoplasia biolink:Disease mondo OMIM:242880|UMLS:CN074232 http://identifiers.org/omim/242880|UMLS:CN074232 http://purl.obolibrary.org/obo/MONDO_0009456 Immunoerythromyeloid hypoplasia MONDO:0010427 syndromic X-linked intellectual disability Raymond type biolink:Disease mondo DOID:0060824|UMLS:C3275406|OMIM:300799|ICD10:Q87.8 A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1. DOID:0060824|UMLS:C3275406|http://identifiers.org/omim/300799 http://purl.obolibrary.org/obo/MONDO_0010427 mental retardation, X-linked, syndromic, Raymond type; MRXSR|mental retardation, X-linked, syndromic, Raymond type|MRXSR|intellectual disability, X-linked, syndromic, Raymond type; MRXSR|intellectual disability, X-linked, syndromic, Raymond type|mental retardation, X-linked syndromic, Raymond type|intellectual disability, X-linked syndromic, Raymond type MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes biolink:Disease mondo OMIM:242870|MESH:C565468|UMLS:C1855762 MESH:C565468|UMLS:C1855762|http://identifiers.org/omim/242870 http://purl.obolibrary.org/obo/MONDO_0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes MONDO:0010429 intellectual disability, X-linked 96 biolink:Disease mondo OMIM:300802|UMLS:C3275408 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene. UMLS:C3275408|http://identifiers.org/omim/300802 http://purl.obolibrary.org/obo/MONDO_0010429 intellectual disability, X-linked 96; MRX96|intellectual disability, X-linked type 96|intellectual disability, X-linked 96|mental retardation, X-linked 96; MRX96|mental retardation, X-linked 96|MRX96|mental retardation, X-linked type 96|SYP non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in SYP MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 biolink:Disease mondo DOID:0090008|OMIM:242860|ICD10:D84.8 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene. DOID:0090008|http://identifiers.org/omim/242860 http://purl.obolibrary.org/obo/MONDO_0009454 centromeric instability, immunodeficiency syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome 1|immunodeficiency-centromeric instability-facial anomalies syndrome type 1|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B|immunodeficiency-centromeric instability-Facial anomalies syndrome type 1|immunodeficiency-centromeric instability-facial anomalies syndrome 1; ICF1|ICF1|DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ICF syndrome 1 MONDO:0009453 immune deficiency disease biolink:Disease mondo OMIM:242850|MESH:C565469|UMLS:C1855771 MESH:C565469|UMLS:C1855771|http://identifiers.org/omim/242850 http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease MONDO:0009452 Vici syndrome biolink:Disease mondo UMLS:C1855772|SCTID:719824001|MESH:C535566|GARD:0000448|ICD10:Q87.8|DOID:0060356|OMIM:242840|Orphanet:1493|NCIT:C138174 Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. SNOMEDCT:719824001|ORPHA:1493|UMLS:C1855772|MESH:C535566|DOID:0060356|NCIT:C138174|http://identifiers.org/omim/242840 http://purl.obolibrary.org/obo/MONDO_0009452 Vici syndrome|immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|VICIS|Dionisi Vici Sabetta Gambarara syndrome|immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|Dionisi-Vici-Sabetta-Gambarara syndrome|Vici syndrome; VICIS|immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum|absent corpus callosum-cataract-immunodeficiency syndrome|absent corpus callosum cataract immunodeficiency ordo_malformation_syndrome|gard_rare MONDO:0009451 Nezelof syndrome biolink:Disease mondo UMLS:CN206066|ICD10:D81.4|ICD9:279.13|GARD:0007201|SCTID:55602000|MESH:C536288|DOID:2012|OMIM:242700|Orphanet:83471 SNOMEDCT:55602000|MESH:C536288|UMLS:CN206066|DOID:2012|ORPHA:83471|http://identifiers.org/omim/242700 http://purl.obolibrary.org/obo/MONDO_0009451 thymic aplasia|Nezelof's syndrome|immune defect due to absence of THYMUS|immune defect due to absence Of Thymus|T-lymphocyte deficiency|Nezelof syndrome ordo_disease MONDO:0009450 ciliary dyskinesia with excessively long cilia biolink:Disease mondo SCTID:233665006|OMIM:242680|GARD:0002982|ICD9:759.89|MESH:C536287 MESH:C536287|http://identifiers.org/omim/242680|SNOMEDCT:233665006 http://purl.obolibrary.org/obo/MONDO_0009450 ciliary dyskinesia with excessively long cilia|immotile cilia syndrome due to excessively long cilia gard_rare MONDO:0010431 Joubert syndrome 10 biolink:Disease mondo UMLS:C2749019|OMIM:300804|MESH:C567582|DOID:0110981 Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene. http://identifiers.org/omim/300804|UMLS:C2749019|MESH:C567582|DOID:0110981 http://purl.obolibrary.org/obo/MONDO_0010431 OFD1 Joubert syndrome|JBTS10|Joubert syndrome caused by mutation in OFD1|Joubert syndrome 10|Joubert syndrome 10; JBTS10|Joubert syndrome type 10 MONDO:0010430 intellectual disability, X-linked 97 biolink:Disease mondo UMLS:C2749020|OMIM:300803|MESH:C567583 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene. http://identifiers.org/omim/300803|MESH:C567583|UMLS:C2749020 http://purl.obolibrary.org/obo/MONDO_0010430 mental retardation, X-linked 97|Mrxz|mental retardation, X-linked 97; MRX97|ZNF711 non-syndromic X-linked intellectual disability|MRX97|mental retardation, X-linked type 97|non-syndromic X-linked intellectual disability caused by mutation in ZNF711|intellectual disability, X-linked 65|mental retardation, X-linked 65|intellectual disability, X-linked 97; MRX97|intellectual disability, X-linked type 97|intellectual disability, X-linked 97 MONDO:0010433 systemic lupus erythematosus, susceptibility to, 15 biolink:Disease mondo OMIM:300809 http://identifiers.org/omim/300809 http://purl.obolibrary.org/obo/MONDO_0010433 SLEB15|systemic lupus erythematosus, susceptibility to, 15; SLEB15|systemic lupus erythematosus, susceptibility to, 15 predisposition MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect biolink:Disease mondo UMLS:C2749016|OMIM:300807|MESH:C567581 A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9). http://identifiers.org/omim/300807|MESH:C567581|UMLS:C2749016 http://purl.obolibrary.org/obo/MONDO_0010432 THPH8|thrombophilia, X-linked, due to factor IX defect|deep Venous thrombosis, protection against|thrombophilia, X-linked, due to factor IX defect; THPH8 MONDO:0010435 nystagmus 6, congenital, X-linked biolink:Disease mondo OMIM:300814|UMLS:C3151752 http://identifiers.org/omim/300814|UMLS:C3151752 http://purl.obolibrary.org/obo/MONDO_0010435 nystagmus 6, congenital, X-linked|NYS6|NYSTAGMUS 6, congenital, X-linked; NYS6 MONDO:0010434 synovial sarcoma (disease) biolink:Disease mondo GARD:0007721|UMLS:C0039101|ONCOTREE:SYNS|OMIM:300813|HP:0012570|ICD9:171.9|ICD10:C49.9|ICDO:9040/3|NCIT:C3400|EFO:0001376|DOID:5485|SCTID:302851001|MESH:D013584|MedDRA:10042863|Orphanet:3273 Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name). ORPHA:3273|NCIT:C3400|UMLS:C0039101|MEDDRA:10042863|http://identifiers.org/omim/300813|DOID:5485|MESH:D013584|SNOMEDCT:302851001 http://purl.obolibrary.org/obo/MONDO_0010434 sarcoma, synovial, malignant|synovial sarcoma|synovial sarcoma, not otherwise specified|Synovialosarcoma|sarcoma, synovial|synovial sarcoma, NOS|SS ordo_disease MONDO:0022404 retinal ciliopathy due to mutation in usher gene biolink:Disease mondo Orphanet:156177 ORPHA:156177 http://purl.obolibrary.org/obo/MONDO_0022404 ordo_group_of_disorders MONDO:0022405 retinal ciliopathy due to mutation in nephronophthisis gene biolink:Disease mondo Orphanet:156180 ORPHA:156180 http://purl.obolibrary.org/obo/MONDO_0022405 ordo_group_of_disorders NCBITaxon:186820 Listeriaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_186820 MONDO:0022406 obsolete aksu von stockhausen syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022406 MONDO:0022407 retinal ciliopathy due to mutation in bardet-biedl gene biolink:Disease mondo Orphanet:156183 ORPHA:156183 http://purl.obolibrary.org/obo/MONDO_0022407 ordo_group_of_disorders NCBITaxon:186826 Lactobacillales organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_186826 MONDO:0022409 nephropathy-associated ciliopathy biolink:Disease mondo Orphanet:156162 ORPHA:156162 http://purl.obolibrary.org/obo/MONDO_0022409 ordo_group_of_disorders MONDO:0022400 retinal ciliopathy due to mutation in the rpgrip gene biolink:Disease mondo Orphanet:156174 ORPHA:156174 http://purl.obolibrary.org/obo/MONDO_0022400 ordo_group_of_disorders MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications biolink:Disease mondo MESH:C565478|UMLS:C1855809|OMIM:241519 MESH:C565478|UMLS:C1855809|http://identifiers.org/omim/241519 http://purl.obolibrary.org/obo/MONDO_0009429 hypophosphatemia, renal, with intracerebral calcifications MONDO:0022401 agyria pachygyria polymicrogyria biolink:Disease mondo GARD:0000572 Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect. http://purl.obolibrary.org/obo/MONDO_0022401 gard_rare MONDO:0009428 childhood hypophosphatasia biolink:Disease mondo Orphanet:247667|MESH:C562440|GARD:0008735|SCTID:30174008|ICD10:E83.3|UMLS:C0220743|DOID:0110915|OMIM:241510 Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait. DOID:0110915|http://identifiers.org/omim/241510|MESH:C562440|ORPHA:247667|UMLS:C0220743|SNOMEDCT:30174008 http://purl.obolibrary.org/obo/MONDO_0009428 pediatric hypophosphatasia|pediatric hypophosphatasia|childhood-onset hypophosphatasia|childhood-onset Rathburn disease|childhood-onset phosphoethanolaminuria|hypophosphatasia of childhood|hypophosphatasia, childhood ordo_clinical_subtype|gard_rare MONDO:0022402 agyria-pachygyria type 1 biolink:Disease mondo GARD:0000573 A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei. http://purl.obolibrary.org/obo/MONDO_0022402 Bielchowsky type of lissencephaly|type I lissencephaly gard_rare MONDO:0022403 Ahumada Del Castillo syndrome biolink:Disease mondo GARD:0005763 A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins. http://purl.obolibrary.org/obo/MONDO_0022403 Argonz Del Castillo syndrome|Argonz Ahumada Del Castillo syndrome|galactorrhea amenorrhea without pregnancy|amenorrhea galactorrhea FSH decrease syndrome|nonpuerperal galactorrhe amenorrhea gard_rare MONDO:0009427 infantile hypophosphatasia biolink:Disease mondo ICD10:E83.3|Orphanet:247651|OMIM:241500|SCTID:55236002|DOID:0110914|UMLS:C0268412 Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. http://identifiers.org/omim/241500|DOID:0110914|ORPHA:247651|UMLS:C0268412|SNOMEDCT:55236002 http://purl.obolibrary.org/obo/MONDO_0009427 hypophosphatasia, perinatal lethal|HOPS|hypophosphatasia, infantile|phosphoethanolaminuria|infantile Rathburn disease|infantile phosphoethanolaminuria ordo_clinical_subtype MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome biolink:Disease mondo Orphanet:2323|NCIT:C133727|UMLS:C1855840|GARD:0000411|ICD10:Q87.1|MESH:C537157|DOID:0060348|OMIM:241410 Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. NCIT:C133727|UMLS:C1855840|http://identifiers.org/omim/241410|DOID:0060348|ORPHA:2323|MESH:C537157 http://purl.obolibrary.org/obo/MONDO_0009426 Sanjad-Sakati syndrome|hypoparathyroidism with short stature, mental retardation, and seizures|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism with short stature, mental retardation and seizures|hypoparathyroidism-retardation-dysmorphism syndrome; HRD|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay|hypoparathyroidism-short stature-intellectual disability-seizures syndrome|hypoparathyroidism-retardation-dysmorphism syndrome|hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay|hypoparathyroidism with short stature, intellectual disability and seizures|hypoparathyroidism-retardation-dysmorphism syndrome; HRDS|HRD|HRDS|hypoparathyroidism with short stature, intellectual disability and seizures|HRD syndrome|Richardson-Kirk syndrome|hypoparathyroidism with short stature, intellectual disability, and seizures|SSS ordo_malformation_syndrome MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset biolink:Disease mondo UMLS:C2678015|MESH:C567468|OMIM:300718 UMLS:C2678015|http://identifiers.org/omim/300718|MESH:C567468 http://purl.obolibrary.org/obo/MONDO_0010415 RBMX1B|reducing body myopathy, X-linked 1B, with late childhood or adult onset; RBMX1B|reducing body myopathy, X-linked 1B, with late childhood or adult onset|myopathy, reducing body, X-linked, childhood-onset MONDO:0009425 hypomandibular faciocranial dysostosis biolink:Disease mondo Orphanet:1790|MESH:C537154|ICD10:Q75.4|OMIM:241310|GARD:0002907|SCTID:721845005 Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. SNOMEDCT:721845005|ORPHA:1790|UMLS:C1855848|http://identifiers.org/omim/241310|MESH:C537154 http://purl.obolibrary.org/obo/MONDO_0009425 hypomandibular faciocranial dysostosis ordo_malformation_syndrome|gard_rare MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe biolink:Disease mondo MESH:C567469|OMIM:300717|UMLS:C2678027 UMLS:C2678027|http://identifiers.org/omim/300717|MESH:C567469 http://purl.obolibrary.org/obo/MONDO_0010414 RBMX1A|reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset|reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset; RBMX1A|myopathy, reducing body, X-linked, early-onset, severe MONDO:0009424 Bartter disease type 2 biolink:Disease mondo GARD:0009658|MESH:C537651|ICD10:E26.8|DOID:0110143|SCTID:700109009|OMIM:241200 Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. DOID:0110143|http://identifiers.org/omim/241200|MESH:C537651|SNOMEDCT:700109009 http://purl.obolibrary.org/obo/MONDO_0009424 Bartter syndrome type 2 antenatal|hypokalemic alkalosis with hypercalciuria 2 antenatal|hypokalemic alkalosis with hypercalciuria, antenatal, 2|hyperprostaglandin E syndrome 2|Bartter syndrome, type 2, antenatal|Bartter syndrome, antenatal, type 2|hyperprostaglandin E syndrome 2|Bartter syndrome antenatal type 2|BARTS2|Bartter syndrome caused by mutation in KCNJ1|hypokalemic alkalosis with hypercalciuria antenatal 2|hypokalemic alkalosis with hypercalciuria 2, antenatal|Bartter syndrome type 2|Bartter syndrome, type 2, antenatal; BARTS2|KCNJ1 Bartter syndrome MONDO:0010417 syndromic X-linked intellectual disability Najm type biolink:Disease mondo DOID:0060807|GARD:0012669|UMLS:C2677903|Orphanet:163937|OMIM:300749|ICD10:Q04.3|MESH:C567466 Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. DOID:0060807|http://identifiers.org/omim/300749|MESH:C567466|UMLS:C2677903|ORPHA:163937 http://purl.obolibrary.org/obo/MONDO_0010417 MICPCH|intellectual disability and microcephaly with pontine and cerebellar hypoplasia|microcephaly with pontine and cerebellar hypoplasia|intellectual disability and microcephaly with pontine and cerebellar hypoplasia|intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia; MICPCH|mental retardation and microcephaly with pontine and cerebellar hypoplasia|mental retardation and microcephaly with PONTINE and cerebellar hypoplasia; MICPCH|X-linked intellectual disability, Najm type|X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia|intellectual disability, X-linked, syndromic, Najm type|Micpch syndrome|X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia|mental retardation, X-linked, syndromic, Najm type|mental retardation and microcephaly with PONTINE and cerebellar hypoplasia ordo_disease MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy biolink:Disease mondo OMIM:241150|SCTID:81987005|UMLS:C0268444|MESH:C562654 http://identifiers.org/omim/241150|SNOMEDCT:81987005|MESH:C562654|UMLS:C0268444 http://purl.obolibrary.org/obo/MONDO_0009423 Gullner syndrome|hypokalemic alkalosis, familial, with specific renal tubulopathy|hypokalemia, familial MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities biolink:Disease mondo UMLS:C2678011|MESH:C567467|OMIM:300719 UMLS:C2678011|http://identifiers.org/omim/300719|MESH:C567467 http://purl.obolibrary.org/obo/MONDO_0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities MONDO:0010419 obsolete X-linked sideroblastic anemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010419 MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges biolink:Disease mondo MESH:C565481|UMLS:C1855856|OMIM:241120 UMLS:C1855856|http://identifiers.org/omim/241120|MESH:C565481 http://purl.obolibrary.org/obo/MONDO_0009422 sweat gland hypoplasia|hypohidrosis with abnormal palmar dermal Ridges MONDO:0010418 hereditary spastic paraplegia 34 biolink:Disease mondo DOID:0110785|UMLS:C2677897|ICD10:G11.4|OMIM:300750|SCTID:763370008|Orphanet:171607|MESH:C567465 X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. DOID:0110785|ORPHA:171607|http://identifiers.org/omim/300750|MESH:C567465|SNOMEDCT:763370008|UMLS:C2677897 http://purl.obolibrary.org/obo/MONDO_0010418 spastic paraplegia 34, X-linked|X-linked spastic paraplegia 34|SPG34|hereditary spastic paraplegia type 34|X-linked spastic paraplegia type 34|spastic paraplegia 34, X-linked; SPG34 ordo_disease MONDO:0009421 hypogonadism, male biolink:Disease mondo ICD9:257.2|SCTID:48723006|OMIM:241100 http://identifiers.org/omim/241100|SNOMEDCT:48723006 http://purl.obolibrary.org/obo/MONDO_0009421 hypogonadism and testicular atrophy|hypogonadism, male MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome biolink:Disease mondo Orphanet:2232|SCTID:719275009|ICD10:E28.3|ICD10:E29.1|MESH:C567109|OMIM:241090 This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia. http://identifiers.org/omim/241090|UMLS:C2931374|ORPHA:2232|MESH:C567109|SNOMEDCT:719275009 http://purl.obolibrary.org/obo/MONDO_0009420 Al Awadi-Farag-Teebi syndrome|hypergonadotropic hypogonadism and partial alopecia ordo_disease MONDO:0010420 X-linked erythropoietic protoporphyria biolink:Disease mondo MESH:C567464|GARD:0010915|Orphanet:443197|OMIM:300752|ICD10:E80.0 X-linked form of erythropoietic protoporphyria. http://identifiers.org/omim/300752|MESH:C567464|ORPHA:443197 http://purl.obolibrary.org/obo/MONDO_0010420 X-linked dominant protoporphyria|XLP|protoporphyria, erythropoietic, X-linked dominant|X-linked dominant erythropoietic protoporphyria|protoporphyria, erythropoietic, X-linked; XLEPP|protoporphyria, erythropoietic, X-linked|XLPP|XLEPP|erythropoietic protoporphyria, X-linked|XLDPP|Erythrohepatic protoporphyria, X-linked ordo_disease MONDO:0010422 Alzheimer disease 16 biolink:Disease mondo OMIM:300756|UMLS:C2677888|MESH:C567463|DOID:0110036 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. http://identifiers.org/omim/300756|UMLS:C2677888|MESH:C567463|DOID:0110036 http://purl.obolibrary.org/obo/MONDO_0010422 Alzheimer's disease 16|AD16|Alzheimer's disease type 16|Alzheimer disease 16|Alzheimer disease 16; AD16 MONDO:0010421 Bruton-type agammaglobulinemia biolink:Disease mondo SCTID:65880007|MedDRA:10060360|GARD:0001033|DOID:14179|OMIM:300755|NCIT:C3822|MESH:C537409|Orphanet:47|ICD10:D80.0|UMLS:C0221026 X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy. http://identifiers.org/omim/300755|NCIT:C3822|DOID:14179|MESH:C537409|UMLS:C0221026|MEDDRA:10060360|ORPHA:47|SNOMEDCT:65880007 http://purl.obolibrary.org/obo/MONDO_0010421 Bruton's agammaglobulinaemia|agammaglobulinemia, X-linked|agammaglobulinemia, BTK|Bruton-type agammaglobulinemia|BTK deficiency|X-linked agammaglobulinemia|Bruton agammaglobulinemia tyrosine kinase deficiency|hypogammaglobulinemia, X-linked|agammaglobulinemia, X-linked; XLA|Bruton's Sex-linked agammaglobulinemia|agammaglobulinemia, Bruton tyrosine kinase|Bruton's type agammaglobulinemia|Bruton's agammaglobulinemia|agammaglobulinemia, X-linked, type 1|XLA|Bruton's X-linked agammaglobulinemia|Bruton type agammaglobulinemia|BTK-deficiency|immunodeficiency 1 ordo_clinical_subtype MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 biolink:Disease mondo OMIM:300770|UMLS:C2677877|MESH:C567461 http://identifiers.org/omim/300770|UMLS:C2677877|MESH:C567461 http://purl.obolibrary.org/obo/MONDO_0010424 Csf2Ra deficiency|SMDP4|Pap due to Csf2Ra deficiency|surfactant metabolism dysfunction, pulmonary, type 4|surfactant metabolism dysfunction, pulmonary, 4|surfactant metabolism dysfunction, pulmonary, 4; SMDP4|pulmonary alveolar proteinosis, congenital, 4 MONDO:0010423 hypospadias 2, X-linked biolink:Disease mondo UMLS:C2677879|MESH:C567462|OMIM:300758 http://identifiers.org/omim/300758|MESH:C567462|UMLS:C2677879 http://purl.obolibrary.org/obo/MONDO_0010423 HYSP2|hypospadias 2, X-linked; HYSP2|hypospadias 2, X-linked UBERON_CORE:conduit_for conduit for biolink:OntologyClass mondo x is a conduit for y iff y passes through the lumen of x. http://purl.obolibrary.org/obo/uberon/core#conduit_for MONDO:0009439 autosomal recessive congenital ichthyosis 2 biolink:Disease mondo NCIT:C132827|GARD:0009736|OMIM:242100|ICD10:Q80.2|DOID:0060710 An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin. NCIT:C132827|http://identifiers.org/omim/242100|DOID:0060710 http://purl.obolibrary.org/obo/MONDO_0009439 Brocq congenital ichthyosiform erythroderma nonbullous form|ichthyosis, congenital, autosomal recessive 2|ichthyosis, congenital, autosomal recessive type 2|nonbullous congenital ichthyosiform erythroderma 1|ichthyosis, congenital, autosomal recessive 2; ARCI2|NCIE|ARCI2|ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly|ichthyosiform erythroderma, congenital, nonbullous, 1|ichthyosiform erythroderma, Brocq congenital, nonbullous form|ichthyosiform erythroderma, nonbullous congenital, 1, formerly|autosomal recessive congenital ichthyosis type 2|ichthyosiform erythroderma, nonbullous congenital, 1|NBCIE|NCIE1|collodion baby, self-healing OBI:0000011 planned process biolink:OntologyClass mondo A processual entity that realizes a plan which is the concretization of a plan specification. http://purl.obolibrary.org/obo/OBI_0000011 MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density biolink:Disease mondo MESH:C565475|OMIM:242050|UMLS:C1855793 MESH:C565475|http://identifiers.org/omim/242050|UMLS:C1855793 http://purl.obolibrary.org/obo/MONDO_0009438 hypouricemia, hypercalcinuria, and decreased bone density MONDO:0010404 X-linked non progressive cerebellar ataxia biolink:Disease mondo ICD10:G11.0|Orphanet:314978|SCTID:766818009|MESH:C567478|OMIM:300703|UMLS:C2678048 X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. SNOMEDCT:766818009|ORPHA:314978|UMLS:C2678048|http://identifiers.org/omim/300703|MESH:C567478 http://purl.obolibrary.org/obo/MONDO_0010404 X-linked spinocerebellar ataxia type 5|spinocerebellar ataxia, X-linked 5|SCAX5|spinocerebellar ataxia, X-linked 5; SCAX5 ordo_disease MONDO:0009437 Bamforth-Lazarus syndrome biolink:Disease mondo GARD:0000414|SCTID:722375007|ICD10:E03.1|MESH:C537901|Orphanet:1226|DOID:0050655|OMIM:241850 Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. SNOMEDCT:722375007|DOID:0050655|MESH:C537901|UMLS:C1855794|http://identifiers.org/omim/241850|ORPHA:1226 http://purl.obolibrary.org/obo/MONDO_0009437 Bamforth syndrome|hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate|Athyroidal hypothyroidism-spiky hair-cleft palate syndrome|hypothyroidism-cleft palate syndrome|hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate|hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate|Bamforth-Lazarus syndrome ordo_malformation_syndrome UBERON:0006292 shoulder joint primordium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006292 MONDO:0010403 albinism-deafness syndrome biolink:Disease mondo SCTID:722285005|OMIM:300700|SCTID:74320008|ICD10:H90.5|MESH:C537042|Orphanet:998|GARD:0000589 Albinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. UMLS:C1845068|http://identifiers.org/omim/300700|MESH:C537042|SNOMEDCT:722285005|SNOMEDCT:74320008|ORPHA:998 http://purl.obolibrary.org/obo/MONDO_0010403 Ziprkowski–Margolis syndrome|Alds|ADFN|Woolf syndrome|Woolf's syndrome|albinism deafness syndrome|albinism-deafness syndrome; ADFN|albinism-deafness syndrome ordo_malformation_syndrome|gard_rare MONDO:0009436 congenital hypothalamic hamartoma syndrome biolink:Disease mondo MESH:C537158|OMIM:241800|Orphanet:2113|GARD:0002934|ICD9:759.6|SCTID:237714006|NCIT:C4385 Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. http://identifiers.org/omim/241800|NCIT:C4385|SNOMEDCT:237714006|ORPHA:2113|MESH:C537158 http://purl.obolibrary.org/obo/MONDO_0009436 hypothalamic hamartomas|congenital hypothalamic hamartoma syndrome|hamartoma of the hypothalamus|hypothalamic hamartoma|hamartoma of hypothalamus gard_rare UBERON:0006291 scapula pre-cartilage condensation biolink:AnatomicalEntity mondo A scapula endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0006291 MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome biolink:Disease mondo GARD:0002928|OMIM:241760|Orphanet:2261|ICD10:Q87.8|SCTID:716096005|MESH:C563067 Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails. MESH:C563067|SNOMEDCT:716096005|http://identifiers.org/omim/241760|ORPHA:2261 http://purl.obolibrary.org/obo/MONDO_0009435 Goldblatt-Wallis syndrome|hypospadias intellectual disability Goldblatt type|hypospadias-intellectual disability syndrome|hypospadias mental retardation Goldblatt type|hypospadias mental retardation syndrome|hypospadias intellectual disability syndrome|hypospadias-mental retardation syndrome|Goldblatt Wallis syndrome|hypospadias intellectual deficit Goldblatt type gard_rare|ordo_malformation_syndrome MONDO:0010406 chromosome Xp11.22 duplication syndrome biolink:Disease mondo OMIM:300705 http://identifiers.org/omim/300705 http://purl.obolibrary.org/obo/MONDO_0010406 intellectual disability, X-linked 31|mental retardation, X-linked 31|chromosome Xp11.22 duplication syndrome|intellectual disability, X-linked 17|mental retardation, X-linked 17 UBERON:0006290 scapula cartilage element biolink:AnatomicalEntity mondo A scapula endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0006290 MONDO:0009434 hypoproteinemia, hypercatabolic biolink:Disease mondo UMLS:C1855796|OMIM:241600|MESH:C565476 UMLS:C1855796|http://identifiers.org/omim/241600|MESH:C565476 http://purl.obolibrary.org/obo/MONDO_0009434 hypoproteinemia, hypercatabolic|B2M deficiency|immunodeficiency 43|Beta-2-microglobulin deficiency|IMD43|immunodeficiency 43; IMD43 MONDO:0010405 HPCX2 biolink:Disease mondo UMLS:C2678047|OMIM:300704|MESH:C567477 UMLS:C2678047|http://identifiers.org/omim/300704|MESH:C567477 http://purl.obolibrary.org/obo/MONDO_0010405 HPCX2|prostate cancer, hereditary, X-linked 2|prostate cancer, hereditary, X-linked 2; HPCX2 MONDO:0009433 hypoplastic left heart syndrome 1 biolink:Disease mondo OMIM:241550|UMLS:CN031062 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene. http://identifiers.org/omim/241550|UMLS:CN031062 http://purl.obolibrary.org/obo/MONDO_0009433 HLHS1|hypoplastic left heart syndrome 1; HLHS1|hypoplastic left heart syndrome 1|HLHS|hypoplastic left heart syndrome caused by mutation in GJA1|GJA1 hypoplastic left heart syndrome|hypoplastic left heart syndrome type 1 MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome biolink:Disease mondo MESH:C567475|GARD:0010295|ICD10:Q87.8|UMLS:C2678045|Orphanet:140952|OMIM:300707|SCTID:723581006 This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. UMLS:C2678045|http://identifiers.org/omim/300707|SNOMEDCT:723581006|MESH:C567475|ORPHA:140952 http://purl.obolibrary.org/obo/MONDO_0010408 toe syndactyly, telecanthus, and anogenital and renal malformations|Star syndrome|toe syndactyly, telecanthus, anogenital and renal malformations|toe syndactyly, telecanthus, and anogenital and renal malformations; STAR|STAR|STAR syndrome|syndactyly with renal and anogenital malformations|syndactyly, telecanthus, anogenital and renal malformations ordo_malformation_syndrome MONDO:0010407 syndromic X-linked intellectual disability Turner type biolink:Disease mondo MESH:C567476|UMLS:C0796272|DOID:0060829|OMIM:300612|Orphanet:85328|UMLS:C2678046|OMIM:300706|ICD10:Q87.8|Orphanet:3056|DOID:0060811|OMIM:309590|GARD:0005604|SCTID:725912001|MESH:C563154|GARD:0005610 X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. SNOMEDCT:725912001|MESH:C563154|DOID:0060811|DOID:0060829|UMLS:C2678046|ORPHA:3056|http://identifiers.org/omim/309590|UMLS:C0796272|http://identifiers.org/omim/300612|http://identifiers.org/omim/300706|MESH:C567476|ORPHA:85328 http://purl.obolibrary.org/obo/MONDO_0010407 mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type|mental retardation, X-linked, syndromic, Turner type|mental retardation and macrocephaly syndrome|MRXST|X-linked intellectual disability, Turner type|X-linked mental retardation Brooks type|Brooks-Wisniewski-Brown Syndrome|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type|Juberg-Marsidi Syndrome|X-linked intellectual disability, Brooks type|mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism|Brooks Wisniewski Brown syndrome|Brooks-Wisniewski-Brown syndrome|mental retardation and macrocephaly syndrome ordo_disease|ordo_malformation_syndrome|gard_rare MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus biolink:Disease mondo OMIM:241540|UMLS:C1855800|MESH:C565477 UMLS:C1855800|http://identifiers.org/omim/241540|MESH:C565477 http://purl.obolibrary.org/obo/MONDO_0009432 hypopituitarism, congenital, with central diabetes insipidus MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria biolink:Disease mondo SCTID:237891005|ICD10:E83.3|DOID:0050947|Orphanet:157215|OMIM:241530|NCIT:C131450|UMLS:C1853271|MESH:C562793 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. UMLS:C1853271|ORPHA:157215|http://identifiers.org/omim/241530|MESH:C562793|SNOMEDCT:237891005|DOID:0050947|NCIT:C131450 http://purl.obolibrary.org/obo/MONDO_0009431 hypercalciuric hypophosphatemic rickets|hypercalciuric rickets|hypophosphatemic hypercalciuric rickets|HHRH|hypophosphatemic rickets with hypercalciuria, hereditary; HHRH|hypophosphatemic rickets with hypercalciuria, hereditary ordo_disease MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type biolink:Disease mondo OMIM:300709|MESH:C567474|UMLS:C2678039|DOID:0060813|ICD10:Q87.8|Orphanet:85324 X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome. DOID:0060813|UMLS:C2678039|http://identifiers.org/omim/300709|MESH:C567474|ORPHA:85324 http://purl.obolibrary.org/obo/MONDO_0010409 intellectual disability, X-linked, syndromic 9|X-linked intellectual disability, Shrimpton type|mental retardation, X-linked, syndromic 9; MRXS9|MRXS9|intellectual disability, X-linked, syndromic 9; MRXS9|mental retardation, X-linked, syndromic 9 ordo_malformation_syndrome MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 biolink:Disease mondo OMIM:241520|UMLS:C0342643|MESH:C562792 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene. http://identifiers.org/omim/241520|MESH:C562792|UMLS:C0342643 http://purl.obolibrary.org/obo/MONDO_0009430 hypophosphatemic rickets, autosomal recessive, type 1|hypophosphatemia, autosomal recessive|ARHR1|autosomal recessive hypophosphatemic rickets caused by mutation in DMP1|hypophosphatemic rickets, autosomal recessive, 1; ARHR1|DMP1 autosomal recessive hypophosphatemic rickets|hypophosphatemic rickets, autosomal recessive, 1|Arhr UBERON:0006298 submandibular gland primordium biolink:AnatomicalEntity mondo A primordium that has the potential to develop into a submandibular gland. http://purl.obolibrary.org/obo/UBERON_0006298 submaxillary gland primordium UBERON:0006297 sublingual gland primordium biolink:AnatomicalEntity mondo A primordium that has the potential to develop into a sublingual gland. http://purl.obolibrary.org/obo/UBERON_0006297 MONDO:0010411 IHPS4 biolink:Disease mondo MESH:C567472|OMIM:300711|UMLS:C2678037 UMLS:C2678037|http://identifiers.org/omim/300711|MESH:C567472 http://purl.obolibrary.org/obo/MONDO_0010411 pyloric stenosis, infantile hypertrophic, 4; IHPS4|IHPS4|pyloric stenosis, infantile hypertrophic, 4 MONDO:0010410 AGA2 biolink:Disease mondo OMIM:300710|UMLS:C2678038|MESH:C567473 UMLS:C2678038|http://identifiers.org/omim/300710|MESH:C567473 http://purl.obolibrary.org/obo/MONDO_0010410 AGA2|alopecia, androgenetic, 2; AGA2|alopecia, androgenetic, 2 MONDO:0010413 MRX95 biolink:Disease mondo UMLS:C2678034|MESH:C567470|OMIM:300716 UMLS:C2678034|http://identifiers.org/omim/300716|MESH:C567470 http://purl.obolibrary.org/obo/MONDO_0010413 intellectual disability, X-linked 95; MRX95|MRX95|mental retardation, X-linked 95; MRX95|intellectual disability, X-linked 95|mental retardation, X-linked 95 MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome biolink:Disease mondo MESH:C567471|ICD10:Q87.8|UMLS:C2678036|Orphanet:163979|OMIM:300712 X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. UMLS:C2678036|http://identifiers.org/omim/300712|MESH:C567471|ORPHA:163979 http://purl.obolibrary.org/obo/MONDO_0010412 craniofacioskeletal syndrome ordo_disease UBERON:0006293 spleen primordium biolink:AnatomicalEntity mondo A dense syncitial-like mesenchymal thickening in the dorsal mesogastrium[ISBN]. the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen[MP]. http://purl.obolibrary.org/obo/UBERON_0006293 spleen mesenchyme|splenic mesenchyme|left spleen primordium|splenic primordium NCBITaxon:424574 Solaneae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_424574 GO:2000468 regulation of peroxidase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of peroxidase activity. http://purl.obolibrary.org/obo/GO_2000468 regulation of peroxidase reaction|regulation of oxyperoxidase activity|regulation of donor:hydrogen-peroxide oxidoreductase activity GO:2000469 negative regulation of peroxidase activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of peroxidase activity. http://purl.obolibrary.org/obo/GO_2000469 negative regulation of oxyperoxidase activity|negative regulation of donor:hydrogen-peroxide oxidoreductase activity|negative regulation of peroxidase reaction UBERON:0018303 adrenal tissue biolink:AnatomicalEntity mondo Tissue that is part of some adrenal gland http://purl.obolibrary.org/obo/UBERON_0018303 adrenal gland tissue UBERON:0006321 superior oblique extraocular muscle biolink:AnatomicalEntity mondo The superior oblique muscle, or obliquus oculi superior, is a fusiform muscle in the upper, medial side of the orbit whose primary action is downward, lateral rotation of the eye. One of the extraocular muscles, the superior oblique is the only muscle innervated by the trochlear nerve (the fourth cranial nerve). http://purl.obolibrary.org/obo/UBERON_0006321 dorsal oblique extraocular muscle|obliquus oculi superior|musculus obliquus superior|M. obliquus superior|musculus obliquus superior bulbi|superior oblique|dorsal oblique extraocular muscles|superior oblique muscle|obliquus superior UBERON:0008987 renal parenchyma biolink:AnatomicalEntity mondo The functional tissue of the kidney, consisting of the nephrons. http://purl.obolibrary.org/obo/UBERON_0008987 kidney parenchyma|parenchyma of kidney GO:2000463 positive regulation of excitatory postsynaptic potential biolink:OntologyClass mondo Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. http://purl.obolibrary.org/obo/GO_2000463 positive regulation of EPSP|positive regulation of excitatory post-synaptic membrane potential UBERON:0008989 submocosal esophageal gland biolink:AnatomicalEntity mondo One of the racemose glands in the walls of the esophagus that in humans are small and serve principally to lubricate the food but in some birds secrete a milky fluid on which the young are fed. http://purl.obolibrary.org/obo/UBERON_0008989 mucous gland of submucosa of esophagus|glandulae oesophageae|esophageal gland UBERON:0008982 fascia biolink:AnatomicalEntity mondo A dense regular connective tissue that that connects muscles together[WP, modified]. http://purl.obolibrary.org/obo/UBERON_0008982 fascia cluster GO:0004415 hyalurononglucosaminidase activity biolink:OntologyClass mondo Catalysis of the random hydrolysis of (1->4) linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. http://purl.obolibrary.org/obo/GO_0004415 hyaluronoglucosidase activity|chondroitinase activity|chondroitinase I activity|hyaluronate 4-glycanohydrolase activity|hyaluronoglucosaminidase activity|hyaluronidase activity GO:2000470 positive regulation of peroxidase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of peroxidase activity. http://purl.obolibrary.org/obo/GO_2000470 positive regulation of donor:hydrogen-peroxide oxidoreductase activity|positive regulation of peroxidase reaction|positive regulation of oxyperoxidase activity UBERON:0006311 chamber of eyeball biolink:AnatomicalEntity mondo A segment of the eyeball that is filled with refractive media http://purl.obolibrary.org/obo/UBERON_0006311 eye chamber|eyeball chamber|chamber of eye UBERON:0008974 apocrine gland biolink:AnatomicalEntity mondo any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk. http://purl.obolibrary.org/obo/UBERON_0008974 true apocrine gland OIO:hasRelatedSynonym has_related_synonym biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym NCBITaxon:2585030 unclassified Riboviria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2585030 unclassified RNA viruses UBERON:0006314 bodily fluid biolink:AnatomicalEntity mondo Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. http://purl.obolibrary.org/obo/UBERON_0006314 fluid|fluid|body fluid UBERON:0008971 left colon biolink:AnatomicalEntity mondo The distal portion of the colon; it develops embryonically from the hindgut and functions in the storage and elimination of waste. http://purl.obolibrary.org/obo/UBERON_0008971 distal colon UBERON:0006312 ocular refractive media biolink:AnatomicalEntity mondo Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. http://purl.obolibrary.org/obo/UBERON_0006312 HGNC:4507 GABBR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4507 NCBITaxon:424551 Solanoideae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_424551 UBERON:0008969 dental follicle biolink:AnatomicalEntity mondo A sac containing the developing tooth and its odontogenic organ. The dental follicle (DF) differentiates into the periodontal ligament. In addition, it may be the precursor of other cells of the periodontium, including osteoblasts, cementoblasts and fibroblasts. They develop into the alveolar bone, the cementum with Sharpey's fibers and the periodontal ligament fibers respectively. http://purl.obolibrary.org/obo/UBERON_0008969 dental sac|tooth follicle CHEBI:16199 urea biolink:ChemicalSubstance mondo A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O). http://purl.obolibrary.org/obo/CHEBI_16199 carbonyldiamide|E927b|Harnstoff|H2NC(O)NH2|carbamide|Carbamide|uree|urea|Karbamid|Urea|UREA|ur|1728 UBERON:0006306 ulna cartilage element biolink:AnatomicalEntity mondo A cartilaginous condensation that has the potential to develop into a ulna. http://purl.obolibrary.org/obo/UBERON_0006306 HGNC:4512 ADGRG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4512 UBERON:0006304 future trigeminal ganglion biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006304 trigeminal preganglion|trigeminal V preganglion HGNC:4510 KISS1R biolink:OntologyClass mondo http://identifiers.org/hgnc/4510 UBERON:0008962 forelimb bone biolink:AnatomicalEntity mondo A bone that is part of a forelimb region. Examples: humerus, any of the phalanges. Counter-example: scapula (a bone of the pectoral girdle). Note that we consider the forelimb to end at the shoulder. http://purl.obolibrary.org/obo/UBERON_0008962 wing bone|free forelimb bone HGNC:4519 GPR68 biolink:OntologyClass mondo http://identifiers.org/hgnc/4519 HGNC:4516 ADGRG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4516 HP:0025580 Abnormal right atrium morphology biolink:PhenotypicFeature mondo Fyler:1770 Any structural abnormality of the right atrium. http://purl.obolibrary.org/obo/HP_0025580 UBERON:0008951 left lung lobe biolink:AnatomicalEntity mondo A lobe of lung that is part of a left lung. http://purl.obolibrary.org/obo/UBERON_0008951 lobe of the left lung|lobe of left lung NCBITaxon:53469 Ancylostomatinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_53469 CHEBI:16134 ammonia biolink:ChemicalSubstance mondo An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. http://purl.obolibrary.org/obo/CHEBI_16134 azane|Ammoniak|R-717|spirit of hartshorn|[NH3]|amoniaco|Ammonia|ammonia|AMMONIA|ammoniac|NH3 NCBITaxon:53467 Mesocestoides organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_53467 NCBITaxon:53466 Mesocestoididae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_53466 HGNC:4539 GPR88 biolink:OntologyClass mondo http://identifiers.org/hgnc/4539 NCBITaxon:172148 Alkhumra hemorrhagic fever virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_172148 AHFV UBERON:0006355 superior vesical vein biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006355 UBERON:0006356 epigastric vein biolink:AnatomicalEntity mondo A vein that drains the anterior abdominal wall. http://purl.obolibrary.org/obo/UBERON_0006356 UBERON:0018321 foramen for glossopharyngeal nerve biolink:AnatomicalEntity mondo Foramen that allows the passge of the glossopharyngeal nerve (cranial nerve IX). http://purl.obolibrary.org/obo/UBERON_0018321 UBERON:0018326 ilioischiadic foramen biolink:AnatomicalEntity mondo Situated just caudal to the acetabulum, the foramen is bound dorsally by the illium and ventrally by the ischium. The foramen transmitts the ischiadic nerves and vessels (Baumel et al. 1993) http://purl.obolibrary.org/obo/UBERON_0018326 HGNC:4551 TECR biolink:OntologyClass mondo http://identifiers.org/hgnc/4551 UBERON:0006340 fourth ventricle choroid plexus stroma biolink:AnatomicalEntity mondo A choroid plexus stroma that is part of a fourth ventricle. http://purl.obolibrary.org/obo/UBERON_0006340 UBERON:0006349 epigastric artery biolink:AnatomicalEntity mondo An external iliac artery branch that supplies blood to the anterior abdominal wall. http://purl.obolibrary.org/obo/UBERON_0006349 HGNC:4556 GPX4 biolink:OntologyClass mondo http://identifiers.org/hgnc/4556 UBERON:0006347 communicating artery biolink:AnatomicalEntity mondo An artery that connects two larger arteries. http://purl.obolibrary.org/obo/UBERON_0006347 HGNC:4553 GPX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4553 CHEBI:16150 benzoate biolink:ChemicalSubstance mondo The simplest member of the class of benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1. http://purl.obolibrary.org/obo/CHEBI_16150 benzoate anion|Benzenecarboxylate|Phenylformate|Benzenemethanoate|benzoate|benzoic acid, ion(1-)|Phenylcarboxylate|Benzeneformate CHEBI:28112 nickel atom biolink:ChemicalSubstance mondo Chemical element (nickel group element atom) with atomic number 28. http://purl.obolibrary.org/obo/CHEBI_28112 28Ni|niccolum|nickel|Raney alloy|Ni|nickel|Nickel|niquel UBERON:0008998 vasculature of brain biolink:AnatomicalEntity mondo System pertaining to blood vessels in the brain. http://purl.obolibrary.org/obo/UBERON_0008998 brain vasculature|cerebrovascular system|intracerebral vasculature UBERON:0006331 brainstem nucleus biolink:AnatomicalEntity mondo A nucleus of brain that is part of a brainstem. http://purl.obolibrary.org/obo/UBERON_0006331 brain stem nucleus UBERON:0006339 third ventricle choroid plexus stroma biolink:AnatomicalEntity mondo A choroid plexus stroma that is part of a third ventricle. http://purl.obolibrary.org/obo/UBERON_0006339 UBERON:0006338 lateral ventricle choroid plexus stroma biolink:AnatomicalEntity mondo A choroid plexus stroma that is part of a lateral ventricle. http://purl.obolibrary.org/obo/UBERON_0006338 GO:0004485 methylcrotonoyl-CoA carboxylase activity biolink:OntologyClass mondo Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H(+) + phosphate. http://purl.obolibrary.org/obo/GO_0004485 methylcrotonyl-CoA carboxylase activity|3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)|beta-methylcrotonyl CoA carboxylase activity|MCCC activity|methylcrotonyl coenzyme A carboxylase activity|beta-methylcrotonyl-CoA carboxylase activity|beta-methylcrotonyl coenzyme A carboxylase activity GO:0016469 proton-transporting two-sector ATPase complex biolink:OntologyClass mondo A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible. http://purl.obolibrary.org/obo/GO_0016469 hydrogen-transporting two-sector ATPase complex|vacuolar hydrogen-transporting ATPase GO:0004497 monooxygenase activity biolink:OntologyClass mondo Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water. http://purl.obolibrary.org/obo/GO_0004497 hydroxylase activity HP:0001574 Abnormality of the integument biolink:PhenotypicFeature mondo UMLS:C4025761 An abnormality of the integument, which consists of the skin and the superficial fascia. http://purl.obolibrary.org/obo/HP_0001574 GO:0016477 cell migration biolink:OntologyClass mondo The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. http://purl.obolibrary.org/obo/GO_0016477 GO:0004466 long-chain-acyl-CoA dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF. http://purl.obolibrary.org/obo/GO_0004466 long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase activity|palmitoyl-coenzyme A dehydrogenase activity|long-chain acyl-coenzyme A dehydrogenase activity|long-chain-acyl-CoA:acceptor 2,3-oxidoreductase activity|palmitoyl-CoA dehydrogenase activity HP:0001548 Overgrowth biolink:PhenotypicFeature mondo UMLS:C1849265|UMLS:C3150281|UMLS:C1851731 Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. http://purl.obolibrary.org/obo/HP_0001548 Generalized overgrowth|General overgrowth HP:0001541 Ascites biolink:PhenotypicFeature mondo MSH:D001201|SNOMEDCT_US:389026000|UMLS:C0003962 Accumulation of fluid in the peritoneal cavity. http://purl.obolibrary.org/obo/HP_0001541 Accumulation of fluid in the abdomen hposlim_core GO:0016444 somatic cell DNA recombination biolink:OntologyClass mondo Recombination occurring within or between DNA molecules in somatic cells. http://purl.obolibrary.org/obo/GO_0016444 GO:0016445 somatic diversification of immunoglobulins biolink:OntologyClass mondo The somatic process that results in the generation of sequence diversity of immunoglobulins. http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of antibodies GO:0016447 somatic recombination of immunoglobulin gene segments biolink:OntologyClass mondo The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of antibody gene segments HP:0001558 Decreased fetal movement biolink:PhenotypicFeature mondo UMLS:C0235659|SNOMEDCT_US:276369006 An abnormal reduction in quantity or strength of fetal movements. http://purl.obolibrary.org/obo/HP_0001558 Decreased foetal movement|Reduced fetal movements|Reduced fetal movement|Decreased movement in utero|Decreased fetal movements|Decreased fetal activity|Less than 10 fetal movements in 12 hours|Fetal hypokinesia HP:0001557 Prenatal movement abnormality biolink:PhenotypicFeature mondo UMLS:C1849510 An abnormality of fetal movement. http://purl.obolibrary.org/obo/HP_0001557 Abnormal intrauterine movements GO:0090394 negative regulation of excitatory postsynaptic potential biolink:OntologyClass mondo Any process that prevents the establishment or decreases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. http://purl.obolibrary.org/obo/GO_0090394 reduction of excitatory postsynaptic membrane potential|negative regulation of excitatory post-synaptic membrane potential|negative regulation of EPSP GO:0016454 C-palmitoyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of a palmitoyl group to a carbon atom on the acceptor molecule. http://purl.obolibrary.org/obo/GO_0016454 OGMS:0000087 extended organism biolink:OntologyClass mondo http://purl.obolibrary.org/obo/OGMS_0000087 UBERON:0008946 lung parenchyma biolink:AnatomicalEntity mondo A parenchyma that is part of a lung. http://purl.obolibrary.org/obo/UBERON_0008946 parenchyma of lung|respiratory portion of lung|pulmonary parenchyma UBERON:0008947 respiratory primordium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0008947 HGNC:11480 SVIL biolink:OntologyClass mondo http://identifiers.org/hgnc/11480 GO:0016421 CoA carboxylase activity biolink:OntologyClass mondo Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. http://purl.obolibrary.org/obo/GO_0016421 GO:0004457 lactate dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: lactate + NAD+ = H+ + NADH + pyruvate. http://purl.obolibrary.org/obo/GO_0004457 HGNC:11497 SYNGAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11497 HGNC:11495 SYN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11495 HGNC:11494 SYN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11494 GO:0004423 iduronate-2-sulfatase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin. http://purl.obolibrary.org/obo/GO_0004423 sulfoiduronate sulfohydrolase activity|L-iduronosulfatase activity|iduronate-2-sulfate sulfatase activity|2-sulfo-L-iduronate 2-sulfatase activity|iduronate sulfatase activity|chondroitinsulfatase|L-idurono sulfate sulfatase activity|sulfo-L-iduronate sulfatase activity|idurono-2-sulfatase activity|iduronide-2-sulfate sulfatase activity|iduronate sulfate sulfatase activity|iduronate-2-sulphatase activity|L-iduronate-2-sulfate 2-sulfohydrolase activity|L-iduronate 2-sulfate sulfatase activity GO:0016408 C-acyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of an acyl group to a carbon atom on the acceptor molecule. http://purl.obolibrary.org/obo/GO_0016408 OGMS:0000060 bodily process biolink:OntologyClass mondo A process in which at least one bodily component of an organsim participates. http://purl.obolibrary.org/obo/OGMS_0000060 GO:0016409 palmitoyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule. http://purl.obolibrary.org/obo/GO_0016409 GO:0016406 carnitine O-acyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule. http://purl.obolibrary.org/obo/GO_0016406 GO:0016407 acetyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of an acetyl group to an acceptor molecule. http://purl.obolibrary.org/obo/GO_0016407 acetylase activity HP:0001581 Recurrent skin infections biolink:PhenotypicFeature mondo UMLS:C1853193 Infections of the skin that happen multiple times. http://purl.obolibrary.org/obo/HP_0001581 Cutaneous infections|Skin infections, recurrent|Recurrent skin infections HGNC:11460 SUOX biolink:OntologyClass mondo http://identifiers.org/hgnc/11460 UBERON:0008907 dermal bone biolink:AnatomicalEntity mondo Skeletal element that forms superficially in the organism, usually in association with the ectoderm[VSAO]. http://purl.obolibrary.org/obo/UBERON_0008907 dermal bones UBERON:0008909 perichordal bone biolink:AnatomicalEntity mondo Bone element that is adjacent to the notochord. http://purl.obolibrary.org/obo/UBERON_0008909 perichordal bones|perichordal bone HGNC:23452 LIPN biolink:OntologyClass mondo http://identifiers.org/hgnc/23452 HP:0001596 Alopecia biolink:PhenotypicFeature mondo MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|UMLS:C0002170|MEDDRA:10001760 A noncongenital process of hair loss, which may progress to partial or complete baldness. http://purl.obolibrary.org/obo/HP_0001596 Hair loss hposlim_core HP:0001597 Abnormality of the nail biolink:PhenotypicFeature mondo SNOMEDCT_US:17790008|MSH:D009264|UMLS:C0853087|MSH:D009260|UMLS:C0027339 Abnormality of the nail. http://purl.obolibrary.org/obo/HP_0001597 Abnormality of the nail|Nail disease HP:0001595 Abnormal hair morphology biolink:PhenotypicFeature mondo UMLS:C2677869|UMLS:C0157733 An abnormality of the hair. http://purl.obolibrary.org/obo/HP_0001595 Abnormality of the hair shaft|Abnormality of the hair|Hair abnormality hposlim_core GO:0016413 O-acetyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of an acetyl group to an oxygen atom on the acceptor molecule. http://purl.obolibrary.org/obo/GO_0016413 GO:0016410 N-acyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule. http://purl.obolibrary.org/obo/GO_0016410 HGNC:11474 SURF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11474 MONDO:0010359 Dent disease type 2 biolink:Disease mondo UMLS:C1845167|UMLS:C4305529|Orphanet:93623|ICD10:N25.8|OMIM:300555|SCTID:717790004 Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. ORPHA:93623|http://identifiers.org/omim/300555|UMLS:C1845167|UMLS:C4305529|SNOMEDCT:717790004 http://purl.obolibrary.org/obo/MONDO_0010359 nephrolithiasis type 2|DENT disease 2|Dent disease type 2|Dent disease caused by mutation in OCRL|OCRL Dent disease ordo_clinical_subtype MONDO:0009369 non-immune hydrops fetalis biolink:Disease mondo OMIM:236750|ICD10:P56.9|Orphanet:363999|EFO:0009051|NCIT:C111905|ICD9:778.0|SCTID:276509008|UMLS:C0455988|ICD10:P83.2 Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. NCIT:C111905|SNOMEDCT:276509008|ORPHA:363999|http://identifiers.org/omim/236750|UMLS:C0455988 http://purl.obolibrary.org/obo/MONDO_0009369 hydrops fetalis, nonimmune; NIHF|non-immune fetal edema|non-immune HF|hydrops fetalis, nonimmune|NIHF|non-immune fetal hydrops|Hemoglobin H hydrops fetalis syndrome|hydrops fetalis, Alpha-thalassemia-related ordo_clinical_subtype MONDO:0009368 urofacial syndrome type 1 biolink:Disease mondo OMIM:236730 http://identifiers.org/omim/236730 http://purl.obolibrary.org/obo/MONDO_0009368 urofacial syndrome 1|hydronephrosis with peculiar Facial expression|Ochoa syndrome|urofacial syndrome 1; UFS1|inverted smile and occult neuropathic bladder|facial palsy, partial, with urinary abnormalities|urofacial syndrome|UFS1|urofacial syndrome type 1 MONDO:0009367 McKusick-Kaufman syndrome biolink:Disease mondo GARD:0003427|Orphanet:2473|MESH:C538159|ICD10:Q87.8|UMLS:C0948368|ICD9:758.89|MedDRA:10052312|OMIM:236700|SCTID:702407009 McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. UMLS:C0948368|ORPHA:2473|MEDDRA:10052312|http://identifiers.org/omim/236700|SNOMEDCT:702407009|MESH:C538159 http://purl.obolibrary.org/obo/MONDO_0009367 HMCS|MKKS|McKusick-Kaufman syndrome|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation|Kaufman-Mckusick syndrome|MCKUSICK-Kaufman syndrome; MKKS|Kaufman McKusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome|hydrometrocolpos syndrome|McKusick Kaufman syndrome ordo_malformation_syndrome|gard_rare OBO:mondo#disease_causes_feature disease causes feature biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#disease_causes_feature MONDO:0009366 normal pressure hydrocephalus biolink:Disease mondo MedDRA:10029773|COHD:432899|DOID:1572|EFO:1001065|OMIM:236690|UMLS:C0020258|ICD9:331.5|ICD10:G91.2|Orphanet:314928|SCTID:30753002|MESH:D006850 A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) MEDDRA:10029773|ORPHA:314928|DOID:1572|MESH:D006850|http://identifiers.org/omim/236690|UMLS:C0020258|SNOMEDCT:30753002 http://purl.obolibrary.org/obo/MONDO_0009366 low pressure hydrocephalus|hydrocephalus, normal-pressure|NPH|chronic adult hydrocephalus ordo_disease MONDO:0009365 hydrolethalus syndrome 1 biolink:Disease mondo OMIM:236680|UMLS:C1856016|MESH:C565504 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene. UMLS:C1856016|MESH:C565504|http://identifiers.org/omim/236680 http://purl.obolibrary.org/obo/MONDO_0009365 hydrolethalus syndrome 1; HLS1|HYLS1 hydrolethalus syndrome|hydrolethalus syndrome caused by mutation in HYLS1|hydrolethalus syndrome 1|HLS1|hydrolethalus syndrome type 1 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 biolink:Disease mondo UMLS:CN033898|OMIM:236670|UMLS:C4284790|NCIT:C128118 An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death. UMLS:CN033898|NCIT:C128118|UMLS:C4284790|http://identifiers.org/omim/236670 http://purl.obolibrary.org/obo/MONDO_0009364 hard syndrome|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1|cod-MD syndrome|MDDGA1|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1|cerebroocular dysplasia-muscular dystrophy syndrome|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; MDDGA1|hydrocephalus, agyria, and retinal dysplasia MONDO:0010363 intellectual disability, X-linked 91 biolink:Disease mondo MESH:C564482|UMLS:C1845142|OMIM:300577 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene. http://identifiers.org/omim/300577|UMLS:C1845142|MESH:C564482 http://purl.obolibrary.org/obo/MONDO_0010363 ZDHHC15 non-syndromic X-linked intellectual disability|mental retardation, X-linked 91|intellectual disability, X-linked type 91|intellectual disability, X-linked 91|mental retardation, X-linked type 91|MRX91|non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15|intellectual disability, X-linked 91; MRX91|mental retardation, X-linked 91; MRX91 MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome biolink:Disease mondo OMIM:236660|SCTID:732926009|Orphanet:2181|UMLS:C1856051|GARD:0001666|MESH:C535770|ICD10:Q87.8 Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. UMLS:C1856051|SNOMEDCT:732926009|MESH:C535770|http://identifiers.org/omim/236660|ORPHA:2181 http://purl.obolibrary.org/obo/MONDO_0009363 Daish-Hardman-Lamont syndrome|Daish Hardman Lamont syndrome|hydrocephaly - tall stature - joint laxity|hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis|hydrocephalus, tall stature, joint laxity and kyphoscoliosis ordo_malformation_syndrome HGNC:11566 TAPBP biolink:OntologyClass mondo http://identifiers.org/hgnc/11566 MONDO:0010362 glycogen storage disease IXd biolink:Disease mondo Orphanet:715|GARD:0003858|OMIM:300559|DOID:0111040|ICD10:E74.0|MESH:C564485 A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness. http://identifiers.org/omim/300559|DOID:0111040|ORPHA:715|MESH:C564485 http://purl.obolibrary.org/obo/MONDO_0010362 GSD due to muscle phosphorylase kinase deficiency|glycogenosis type IXd|GSD type 9D|glycogenosis type 9D|glycogen storage disease due to muscle phosphorylase kinase deficiency|glycogen storage disease type 9D|GSD type 9E|GSD type IXd|GSD IXd|GSD Vb|glycogen storage disease type IXe|glycogen storage disease type 9E|GSD type IXe|GSD9D|muscle phosphorylase kinase deficiency|PHKA1-related glycogen storage disease type IX|PHKA1 glycogen storage disease|glycogen storage disease, type IXd; GSD9D|glycogen storage disease, type IXd|muscular phosphorylase kinase deficiency|glycogen storage disease caused by mutation in PHKA1|glycogenosis due to muscle phosphorylase kinase deficiency|glycogenosis type IXe|X-linked muscke glycogenosis|glycogen storage disease type IXd|glycogenosis type 9E|muscle glycogenosis, X-linked gard_rare|ordo_disease MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome biolink:Disease mondo ICD10:Q87.8|GARD:0002427|UMLS:C1856052|Orphanet:3035|OMIM:236640|MESH:C535406|SCTID:716198008 Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. MESH:C535406|http://identifiers.org/omim/236640|ORPHA:3035|SNOMEDCT:716198008|UMLS:C1856052 http://purl.obolibrary.org/obo/MONDO_0009362 retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities|game Friedman Paradice syndrome|game-Friedman-Paradice syndrome|hydrocephalus with associated malformations ordo_malformation_syndrome MONDO:0010365 CFTDX biolink:Disease mondo OMIM:300580|MESH:C567594|UMLS:C2749128 http://identifiers.org/omim/300580|MESH:C567594|UMLS:C2749128 http://purl.obolibrary.org/obo/MONDO_0010365 myopathy, congenital, with fiber-type disproportion, X-linked; CFTDX|myopathy, congenital, with fiber-type disproportion, X-linked|CFTDX MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius biolink:Disease mondo OMIM:236635|UMLS:CN074258 http://identifiers.org/omim/236635|UMLS:CN074258 http://purl.obolibrary.org/obo/MONDO_0009361 aqueductal stenosis|hydrocephalus due to congenital stenosis of aqueduct of Sylvius MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome biolink:Disease mondo OMIM:300578|ICD10:H35.5|UMLS:C0795873|Orphanet:85332|GARD:0008360|SCTID:719808002 X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. http://identifiers.org/omim/300578|SNOMEDCT:719808002|ORPHA:85332|UMLS:C0795873 http://purl.obolibrary.org/obo/MONDO_0010364 retinitis pigmentosa and intellectual disability due to del(X)(p11.3)|chromosome Xp11.3 deletion syndrome|Aldred syndrome|nonspecific mental retardation associated with retinitis pigmentosa|mental retardation, X-linked, with retinitis pigmentosa|nonspecific intellectual disability associated with retinitis pigmentosa|retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion|X-linked mental handicap-retinitis pigmentosa syndrome|retinitis pigmentosa and intellectual disability due to monosomy Xp11.3|intellectual disability, X-linked, with retinitis pigmentosa ordo_disease MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 biolink:Disease mondo UMLS:C3887608|GARD:0006682|OMIM:236600 Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene. UMLS:C3887608|http://identifiers.org/omim/236600 http://purl.obolibrary.org/obo/MONDO_0009360 CCDC88C congenital hydrocephalus|hydrocephalus, nonsyndromic, autosomal recessive 1; HYC1|HYC1|hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1|ventriculomegaly|congenital hydrocephalus caused by mutation in CCDC88C|hydrocephalus, nonsyndromic, autosomal recessive type 1 MONDO:0010367 SHOX-related short stature biolink:Disease mondo ICD10:Q87.1|Orphanet:314795|OMIM:300582|MESH:C564479|EFO:0008989|SCTID:763868006 SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never. MESH:C564479|ORPHA:314795|SNOMEDCT:763868006|http://identifiers.org/omim/300582 http://purl.obolibrary.org/obo/MONDO_0010367 short stature, idiopathic, X-linked|short stature, idiopathic, X-linked; ISS|ISS ordo_disease MONDO:0010366 FG syndrome 5 biolink:Disease mondo OMIM:300581|UMLS:C1845119|MESH:C564480 MESH:C564480|http://identifiers.org/omim/300581|UMLS:C1845119 http://purl.obolibrary.org/obo/MONDO_0010366 FGS5|FG syndrome 5; FGS5|FG syndrome 5 MONDO:0010369 NYS5 biolink:Disease mondo OMIM:300589|UMLS:C1845116 UMLS:C1845116|http://identifiers.org/omim/300589 http://purl.obolibrary.org/obo/MONDO_0010369 NYS5|NYSTAGMUS 5, congenital, X-linked; NYS5|NYSTAGMUS 5, congenital, X-linked MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia biolink:Disease mondo MESH:C536289|UMLS:C1845117|GARD:0009917|OMIM:300584 http://identifiers.org/omim/300584|UMLS:C1845117|MESH:C536289 http://purl.obolibrary.org/obo/MONDO_0010368 immunodeficiency, isolated|immunodeficiency, Pure|immunodeficiency without anhidrotic ectodermal dysplasia gard_rare MONDO:0022338 ALK+ histiocytosis biolink:Disease mondo GARD:0010577 http://purl.obolibrary.org/obo/MONDO_0022338 anaplastic lymphoma kinase positive histiocytosis gard_rare MONDO:0036990 benign Leydig cell tumor biolink:Disease mondo ICDO:8650/0|UMLS:C0334409|NCIT:C4212 A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion. NCIT:C4212|UMLS:C0334409 http://purl.obolibrary.org/obo/MONDO_0036990 Leydig cell tumor, benign|benign interstitial cell neoplasm|benign interstitial cell tumor|adenoma, interstitial|benign Leydig cell tumor|benign Leydig cell neoplasm MONDO:0010361 intellectual disability, X-linked 30 biolink:Disease mondo OMIM:300558|UMLS:C0796237 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene. UMLS:C0796237|http://identifiers.org/omim/300558 http://purl.obolibrary.org/obo/MONDO_0010361 mental retardation, X-linked 47|intellectual disability, X-linked type 30|intellectual disability, X-linked 30|intellectual disability, X-linked 47|non-syndromic X-linked intellectual disability caused by mutation in PAK3|mental retardation, X-linked 30|mental retardation, X-linked 30; MRX30|PAK3 non-syndromic X-linked intellectual disability|MRX30|mental retardation, X-linked type 30|intellectual disability, X-linked 30; MRX30 MONDO:0010360 PARK12 biolink:Disease mondo UMLS:C1845165|OMIM:300557|MESH:C564486 http://identifiers.org/omim/300557|UMLS:C1845165|MESH:C564486 http://purl.obolibrary.org/obo/MONDO_0010360 Parkinson disease 12; PARK12|Parkinson disease, X-linked|PARK12|Parkinson disease 12 MONDO:0022330 4-hydroxyphenylacetic aciduria biolink:Disease mondo GARD:0008155|MESH:C535315 MESH:C535315 http://purl.obolibrary.org/obo/MONDO_0022330 gard_rare MONDO:0022333 5-nucleotidase syndrome biolink:Disease mondo UMLS:C2930876|MESH:C535321|GARD:0008242 MESH:C535321|UMLS:C2930876 http://purl.obolibrary.org/obo/MONDO_0022333 5'NT syndrome|5'-Nucleotidase syndrome gard_rare NCBITaxon:41705 Protacanthopterygii organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41705 MONDO:0024996 obsolete Usher syndrome, type 2b biolink:Disease mondo GARD:0005441 http://purl.obolibrary.org/obo/MONDO_0024996 USH2B|US2B gard_rare NCBITaxon:111527 pseudomallei group organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_111527 MONDO:0022337 AIDS dysmorphic syndrome biolink:Disease mondo GARD:0005765 http://purl.obolibrary.org/obo/MONDO_0022337 gard_rare MONDO:0010349 ovarian dysgenesis 2 biolink:Disease mondo MESH:C564499|UMLS:C1845294|OMIM:300510 Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene. MESH:C564499|http://identifiers.org/omim/300510|UMLS:C1845294 http://purl.obolibrary.org/obo/MONDO_0010349 ovarian dysgenesis 2|ovarian dysgenesis, hypergonadotropic, X-linked|BMP15 primary ovarian failure|ovarian dysgenesis type 2|primary ovarian failure caused by mutation in BMP15|premature ovarian failure 4|ODG2|ovarian dysgenesis 2; ODG2|ovarian failure, hypergonadotropic, due to ovarian dysgenesis MONDO:0010348 dyslexia, susceptibility to, 9 biolink:Disease mondo OMIM:300509 http://identifiers.org/omim/300509 http://purl.obolibrary.org/obo/MONDO_0010348 DYX9|dyslexia, susceptibility to, 9|dyslexia, susceptibility to, 9; DYX9 predisposition MONDO:0009379 Rotor syndrome biolink:Disease mondo MedDRA:10039234|OMIM:237450|UMLS:C0220991|ICD10:E80.6|Orphanet:3111|GARD:0000218|SCTID:32891000 Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. http://identifiers.org/omim/237450|MEDDRA:10039234|UMLS:C0220991|ORPHA:3111|SNOMEDCT:32891000 http://purl.obolibrary.org/obo/MONDO_0009379 hyperbilirubinemia, ROTOR type; HBLRR|hyperbilirubinemia, ROTOR type|hyperbilirubinemia, Rotor type|Rotor-type hyperbilirubinemia|Rotor syndrome|HBLRR gard_rare|ordo_disease MONDO:0009378 hyper-beta-alaninemia biolink:Disease mondo UMLS:C0268630|MESH:C562684|Orphanet:309147|GARD:0010267|ICD10:E79.8|SCTID:2359002|OMIM:237400|ICD9:270.8 Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case. ORPHA:309147|http://identifiers.org/omim/237400|MESH:C562684|UMLS:C0268630|SNOMEDCT:2359002 http://purl.obolibrary.org/obo/MONDO_0009378 hyperbetaalaninemia|hyperalaninemia|hyper-beta-alaninemia ordo_disease|gard_rare MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency biolink:Disease mondo MESH:C536109|OMIM:237310|Orphanet:927|ICD10:E72.2|SCTID:57119000|NCIT:C129307|GARD:0007158 N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia. NCIT:C129307|MESH:C536109|ORPHA:927|http://identifiers.org/omim/237310|SNOMEDCT:57119000 http://purl.obolibrary.org/obo/MONDO_0009377 NAGS deficiency|hyperammonemia due to N-acetylglutamate synthetase deficiency|NAGSD|N-acetylglutamate synthetase deficiency|N-acetylglutamate synthase deficiency; NAGSD|N-acetylglutamate synthase deficiency|N-acetyl glutamate synthetase deficiency|NAG synthetase deficiency|Nags deficiency ordo_disease MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease biolink:Disease mondo EFO:0007193|NCIT:C84612|MedDRA:10058297|MESH:D020165|ICD10:E72.2|DOID:9280|GARD:0007269|Orphanet:147|SCTID:62522004|OMIM:237300 Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. ORPHA:147|SNOMEDCT:62522004|MEDDRA:10058297|http://identifiers.org/omim/237300|DOID:9280|MESH:D020165|NCIT:C84612 http://purl.obolibrary.org/obo/MONDO_0009376 carbamoyl-phosphate synthetase I deficiency|carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to|CPS1 deficiency|carbamoyl phosphate synthetase 1 deficiency|carbamoyl-phosphate synthase|carbamyl phosphate synthetase (CPS) deficiency|carbamoyl-phosphate synthetase deficiency|CPS 1 deficiency|carbamoyl phosphate synthetase I deficiency, hyperammonemia due to|carbamoyl phosphate synthetase deficiency|CPS I deficiency|hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency|carbamoyl-phosphate synthetase 1 deficiency|deficiency disease|CPS1D ordo_disease NCBITaxon:111520 Penaeoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_111520 MONDO:0009375 hymen, imperforate biolink:Disease mondo MESH:C562397|OMIM:237100|ICD10:Q52.3|SCTID:65937002|COHD:193587|ICD9:752.42 http://identifiers.org/omim/237100|MESH:C562397|SNOMEDCT:65937002 http://purl.obolibrary.org/obo/MONDO_0009375 hymen, imperforate MONDO:0024990 swine disease biolink:Disease mondo MESH:D013553|UMLS:C0039006 Diseases of domestic swine and of the wild boar of the genus Sus. UMLS:C0039006|MESH:D013553 http://purl.obolibrary.org/obo/MONDO_0024990 diseases, swine|swine disease|disease, swine MONDO:0009374 hydroxyprolinemia (disease) biolink:Disease mondo HP:0003260|OMIM:237000|UMLS:C0268531|GARD:0010717|MESH:C562669|ICD9:270.8|SCTID:25739007 http://identifiers.org/omim/237000|SNOMEDCT:25739007|MESH:C562669|UMLS:C0268531 http://purl.obolibrary.org/obo/MONDO_0009374 4 alpha hydroxy-L-proline oxidase deficiency|Hydroxyprolinemia|HYDROXYPROLINEMIA|4-hydroxy-L-proline oxidase deficiency mostly_harmless HGNC:11577 TAZ biolink:OntologyClass mondo http://identifiers.org/hgnc/11577 MONDO:0010352 MRX82 biolink:Disease mondo OMIM:300518|UMLS:C1845286|MESH:C564496 MESH:C564496|http://identifiers.org/omim/300518|UMLS:C1845286 http://purl.obolibrary.org/obo/MONDO_0010352 intellectual disability, X-linked 82; MRX82|mental retardation, X-linked 82; MRX82|MRX82|intellectual disability, X-linked 82|mental retardation, X-linked 82 MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome biolink:Disease mondo ICD10:E72.3|Orphanet:79156|OMIM:236900|MESH:C565502|UMLS:C1855986 Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient. MESH:C565502|ORPHA:79156|UMLS:C1855986|http://identifiers.org/omim/236900 http://purl.obolibrary.org/obo/MONDO_0009373 hydroxylysinuria ordo_disease MONDO:0010351 Fanconi anemia complementation group b biolink:Disease mondo NCIT:C125703|UMLS:C1845292|DOID:0111098|OMIM:300514|MESH:C564497 Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. NCIT:C125703|http://identifiers.org/omim/300514|UMLS:C1845292|DOID:0111098|MESH:C564497 http://purl.obolibrary.org/obo/MONDO_0010351 Fanconi pancytopenia type 2|facb|FA2|Fanconi pancytopenia, type 2|Fanconi anemia complementation group type B|FANCB|Fanconi anemia, complementation group B; FANCB|Fanconi anemia, complementation group B|FACB|Fanconi Anemia, complementation group type B MONDO:0010354 Allan-Herndon-Dudley syndrome biolink:Disease mondo OMIM:300523|ICD10:E03.1|ICD10:G31.8|SCTID:702327009|Orphanet:59|GARD:0005617|NCIT:C118843|UMLS:C0795889|MESH:C537047|DOID:0050631 Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. ORPHA:59|http://identifiers.org/omim/300523|SNOMEDCT:702327009|NCIT:C118843|MESH:C537047|UMLS:C0795889|DOID:0050631 http://purl.obolibrary.org/obo/MONDO_0010354 T3 resistance|X-linked intellectual disability with hypotonia|MCT8 deficiency|Allan-Herndon syndrome|monocarboxylate transporter-8 deficiency|mental retardation, X-linked, with hypotonia|MCT8-specific thyroid hormone cell Membrane transporter deficiency|intellectual disability, X-linked, with hypotonia|monocarboxylate transporter 8 deficiency|X-linked intellectual disability-hypotonia syndrome|triiodothyronine resistance|ALLAN-Herndon syndrome|intellectual disability and muscular atrophy|Allan-Herndon-Dudley syndrome|T3 resisitence|mental retardation and muscular atrophy|AHDS|triiodothyronine resistence|ALLAN-Herndon-DUDLEY syndrome; AHDS gard_rare|ordo_clinical_subtype MONDO:0009372 encephalopathy due to hydroxykynureninuria biolink:Disease mondo ICD9:270.2|GARD:0010039|UMLS:C0268474|Orphanet:79155|SCTID:72945002|OMIM:236800|ICD10:E70.8|MESH:C536081 Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway. ORPHA:79155|SNOMEDCT:72945002|http://identifiers.org/omim/236800|UMLS:C0268474|MESH:C536081 http://purl.obolibrary.org/obo/MONDO_0009372 kynureninase deficiency, partial|kynureninase deficiency|Xanthurenic aciduria|hydroxykynureninuria ordo_disease MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome biolink:Disease mondo MESH:C564495|Orphanet:85321|OMIM:300519|ICD10:Q87.8|DOID:0060830|SCTID:721087008 Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome. MESH:C564495|DOID:0060830|http://identifiers.org/omim/300519|SNOMEDCT:721087008|ORPHA:85321 http://purl.obolibrary.org/obo/MONDO_0010353 intellectual disability, X-linked, syndromic, Martin-Probst type|mental retardation, X-linked, syndromic, MARTIN-Probst type|Martin-Probst syndrome|Martin-Probst deafness-intellectual disability syndrome|intellectual disability, X-linked, syndromic, MARTIN-Probst type|Martin-Probst deafness-mental retardation syndrome|MRXSMP|deafness-intellectual disability syndrome, Martin-Probst type|mental retardation, X-linked, syndromic, Martin-Probst type|intellectual disability, X-linked, syndromic, MARTIN-Probst type; MRXSMP|mental retardation, X-linked, syndromic, MARTIN-Probst type; MRXSMP|X-linked deafness-intellectual disability syndrome syndrome ordo_malformation_syndrome MONDO:0009371 3-hydroxyisobutyric aciduria biolink:Disease mondo Orphanet:939|ICD10:E71.1|GARD:0005662|ICD9:791.9|OMIM:236795|SCTID:237957007|MESH:C535312|UMLS:C0342737 3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive. MESH:C535312|ORPHA:939|UMLS:C0342737|SNOMEDCT:237957007|http://identifiers.org/omim/236795 http://purl.obolibrary.org/obo/MONDO_0009371 disorder of valine metabolism|3-hydroxyisobutyric aciduria ordo_disease|gard_rare MONDO:0009370 L-2-hydroxyglutaric aciduria biolink:Disease mondo DOID:0050574|GARD:0010472|Orphanet:79314|UMLS:C3888081|SCTID:237961001|UMLS:C1855995|OMIM:236792|ICD10:E72.8 L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy. DOID:0050574|ORPHA:79314|UMLS:C1855995|SNOMEDCT:237961001|http://identifiers.org/omim/236792|UMLS:C3888081 http://purl.obolibrary.org/obo/MONDO_0009370 L-2-HGA|L-2-hydroxyglutaric aciduria|L-2-hydroxyglutaric aciduria; L2HGA|L2HGA|L-2-hydroxyglutaric acidemia ordo_disease|gard_rare MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis biolink:Disease mondo UMLS:C1845202|OMIM:300539|Orphanet:93606|MESH:C564491|SCTID:723440000|ICD10:E22.2 Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. SNOMEDCT:723440000|MESH:C564491|ORPHA:93606|http://identifiers.org/omim/300539|UMLS:C1845202 http://purl.obolibrary.org/obo/MONDO_0010356 nephrogenic syndrome of inappropriate antidiuresis; NSIAD|NSIAD|nephrogenic syndrome of inappropriate antidiuresis ordo_disease MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type biolink:Disease mondo DOID:0060809|ICD10:Q87.8|MESH:C564494|UMLS:C4304915|SCTID:719161008|OMIM:300534|Orphanet:85279|UMLS:C1845243 UMLS:C4304915|MESH:C564494|DOID:0060809|SNOMEDCT:719161008|http://identifiers.org/omim/300534|UMLS:C1845243|ORPHA:85279 http://purl.obolibrary.org/obo/MONDO_0010355 mental retardation, X-linked, syndromic, Claes-Jensen type; MRXSCJ|mental retardation, X-linked, syndromic, JARID1C-related|intellectual disability, X-linked, syndromic, Claes-Jensen type; MRXSCJ|intellectual disability, X-linked, syndromic, JARID1C-related|mental retardation, X-linked, syndromic, Claes-Jensen type|MRXSJ|intellectual disability, X-linked, syndromic, Claes-Jensen type|syndromic X-linked intellectual disability due to JARID1C mutation|syndromic X-linked mental retardation JARID1C-related|MRXSCJ|syndromic X-linked intellectual disability JARID1C-related ordo_malformation_syndrome MONDO:0010358 hypophosphatemic rickets, X-linked recessive biolink:Disease mondo DOID:0080353|OMIM:300554 Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene. http://identifiers.org/omim/300554|DOID:0080353 http://purl.obolibrary.org/obo/MONDO_0010358 hypophosphatemic rickets, X-linked recessive|X-linked hypophosphatemic rickets caused by mutation in CLCN5|CLCN5 X-linked hypophosphatemic rickets MONDO:0010357 obsolete MRX78 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010357 HGNC:11573 TAT biolink:OntologyClass mondo http://identifiers.org/hgnc/11573 MONDO:0010350 premature ovarian failure 2A biolink:Disease mondo UMLS:C1845293|OMIM:300511|MESH:C564498 Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene. http://identifiers.org/omim/300511|UMLS:C1845293|MESH:C564498 http://purl.obolibrary.org/obo/MONDO_0010350 primary ovarian failure caused by mutation in DIAPH2|premature ovarian failure 2A; POF2A|premature ovarian failure type 2A|DIAPH2 primary ovarian failure|POF2A|premature ovarian failure 2A HGNC:11571 TARDBP biolink:OntologyClass mondo http://identifiers.org/hgnc/11571 MONDO:0024982 salmonella infections, animal biolink:Disease mondo MESH:D012481|UMLS:C0036118 Infections in animals with bacteria of the genus salmonella. UMLS:C0036118|MESH:D012481 http://purl.obolibrary.org/obo/MONDO_0024982 animal Salmonella infections|animal Salmonella infection|Salmonella infection, animal|infections, animal Salmonella|infection, animal Salmonella MONDO:0024981 rodent disease biolink:Disease mondo UMLS:C0035801|MESH:D012376 Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs). UMLS:C0035801|MESH:D012376 http://purl.obolibrary.org/obo/MONDO_0024981 rodent disease|disease, Rodent|diseases, Rodent MONDO:0022321 2-methylacetoacetyl CoA thiolase deficiency biolink:Disease mondo UMLS:C2930874|MESH:C535307|GARD:0008382 MESH:C535307|UMLS:C2930874 http://purl.obolibrary.org/obo/MONDO_0022321 gard_rare MONDO:0022323 2-hydroxyethyl methacrylate sensitization biolink:Disease mondo MESH:C535305|GARD:0008635|UMLS:C2930873 MESH:C535305|UMLS:C2930873 http://purl.obolibrary.org/obo/MONDO_0022323 sensitization to 2-hydroxyethyl methacrylate|2-HEMA sensitization gard_rare MONDO:0024985 sheep disease biolink:Disease mondo UMLS:C0036946|MESH:D012757 Diseases of domestic and mountain sheep of the genus Ovis. MESH:D012757|UMLS:C0036946 http://purl.obolibrary.org/obo/MONDO_0024985 diseases, sheep|Ovine diseases|diseases, Ovine|sheep disease|disease, sheep|disease, Ovine|Ovine disease MONDO:0022326 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022326 MONDO:0010338 X-linked distal spinal muscular atrophy type 3 biolink:Disease mondo Orphanet:139557|ICD10:G12.2|SCTID:766764008|OMIM:300489|MESH:C564506|UMLS:C1845359 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. SNOMEDCT:766764008|MESH:C564506|ORPHA:139557|http://identifiers.org/omim/300489|UMLS:C1845359 http://purl.obolibrary.org/obo/MONDO_0010338 spinal muscular atrophy caused by mutation in ATP7A|spinal muscular atrophy, distal, X-linked 3; SMAX3|DSMAX|spinal muscular atrophy, distal, X-linked recessive|X-linked distal hereditary motor neuropathy type 3|spinal muscular atrophy, distal, X-linked type 3|X-linked dSMA3|spinal muscular atrophy, distal, X-linked 3|X-linked dHMN3|SMAX3|Dsmax|ATP7A-related distal motor neuropathy|X-linked dSMA type 3|ATP7A spinal muscular atrophy|X-linked dHMN type 3 ordo_disease MONDO:0009349 holoprosencephaly 1 biolink:Disease mondo ICD10:Q04.1|DOID:0110881|NCIT:C75476|Orphanet:268936|OMIM:236100 The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22. ORPHA:268936|NCIT:C75476|http://identifiers.org/omim/236100|DOID:0110881 http://purl.obolibrary.org/obo/MONDO_0009349 isolated arhinencephaly|arhinencephaly|holoprosencephaly 1|Hpe, familial|HPE1|Demyer sequence|holoprosencephaly 1; HPE1|holoprosencephaly type 1|cyclopia|holoprosencephaly, familial Alobar ordo_morphological_anomaly MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome biolink:Disease mondo DOID:0080311|GARD:0009947|SCTID:719136005|ICD10:Q04.3|MESH:C537456|GARD:0013093|OMIM:300486|Orphanet:137831 X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. ORPHA:137831|DOID:0080311|MESH:C537456|SNOMEDCT:719136005|http://identifiers.org/omim/300486 http://purl.obolibrary.org/obo/MONDO_0010337 intellectual disability x-linked 60 (formerly)|OPHN1 XLMR|OPHN1 deficiency|intellectual disability, X-linked 60|mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance|OPHN1 XLMR, X-linked intellectual disability|MRX60 (formerly)|mental retardation, X-linked 60, formerly|mental retardation, X-linked 60|mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance|X-linked intellectual Deficit with cerebellar Hypoplasia|intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance|mental retardation x-linked 60 (formerly)|Oligophrenin-1 syndrome|OPHN1 syndrome|intellectual disability x-linked with cerebellar hypoplasia and distinctive facial appearance|OPHN1- related XLID|intellectual disability, X-linked 60, formerly gard_rare|ordo_disease MONDO:0009348 classic Hodgkin lymphoma biolink:Disease mondo ICD10:C81.9|ICD10:C81.7|ICD10:C81.4|ICD10:C81.3|ONCOTREE:CHL|OMIM:236000|ICD10:C81.2|UMLS:CN204952|ICD10:C81.1|Orphanet:391|ICD10:C81.0|NCIT:C7164 Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells. UMLS:CN204952|ORPHA:391|NCIT:C7164|http://identifiers.org/omim/236000 http://purl.obolibrary.org/obo/MONDO_0009348 lymphoma, Hodgkin, classic; Chl|classic Hodgkin disease|classical Hodgkin's lymphoma|Hodgkin disease|lymphoma, Hodgkin, classic|Chl|classical Hodgkin lymphoma ordo_disease MONDO:0009347 familial lipochrome histiocytosis biolink:Disease mondo OMIM:235900|SCTID:234577004|UMLS:C0334125|MESH:C562738 MESH:C562738|UMLS:C0334125|http://identifiers.org/omim/235900|SNOMEDCT:234577004 http://purl.obolibrary.org/obo/MONDO_0009347 histiocytosis, familial lipochrome MONDO:0012999 guanidinoacetate methyltransferase deficiency biolink:Disease mondo DOID:0050799|MESH:C537622|GARD:0002578|OMIM:612736|SCTID:124239003|ICD9:277.6|Orphanet:382|ICD10:E72.8|UMLS:C0574080 Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. MESH:C537622|http://identifiers.org/omim/612736|ORPHA:382|DOID:0050799|UMLS:C0574080|SNOMEDCT:124239003 http://purl.obolibrary.org/obo/MONDO_0012999 creatine deficiency syndrome due to GAMT deficiency|CCDS2|cerebral creatine deficiency syndrome 2; CCDS2|guanidinoacetate methyltransferase deficiency|GAMT deficiency|disorder of guanidinoacetate N-methyltransferase activity|disorder of guanidinoacetate N-methyltransferase activity|cerebral creatine deficiency syndrome 2|cerebral creatine deficiency syndrome type 2|guanidinoacetate N-methyltransferase activity disease ordo_disease|gard_rare MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome biolink:Disease mondo OMIM:300491|UMLS:C1845343|MESH:C564505|Orphanet:85294|ICD10:Q87.8 X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). UMLS:C1845343|ORPHA:85294|MESH:C564505|http://identifiers.org/omim/300491 http://purl.obolibrary.org/obo/MONDO_0010339 epilepsy, X-linked, with variable learning disabilities and behavior disorders ordo_disease MONDO:0009346 histidinuria due to a renal tubular defect biolink:Disease mondo Orphanet:2158|MESH:C538321|UMLS:C0268642|OMIM:235830|ICD10:E70.8|GARD:0002708 UMLS:C0268642|http://identifiers.org/omim/235830|ORPHA:2158|MESH:C538321 http://purl.obolibrary.org/obo/MONDO_0009346 histidinuria-renal tubular defect syndrome|histidinuria due to a renal tubular defect ordo_disease HGNC:11538 TAF4B biolink:OntologyClass mondo http://identifiers.org/hgnc/11538 MONDO:0009345 histidinemia biolink:Disease mondo GARD:0006661|SCTID:410058007|UMLS:C0220992|Orphanet:2157|DOID:0060168|MESH:C538320|OMIM:235800|ICD10:E70.8|ICD10:E70.41 Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. http://identifiers.org/omim/235800|ORPHA:2157|SNOMEDCT:410058007|MESH:C538320|DOID:0060168|UMLS:C0220992 http://purl.obolibrary.org/obo/MONDO_0009345 histidase deficiency|HIS deficiency|Histidinuria|Hal deficiency|histidinuria|hyperhistidinemia|histidine ammonia-lyase deficiency|histidinemia ordo_disease|mostly_harmless|gard_rare MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome biolink:Disease mondo Orphanet:2153|OMIM:235760|SCTID:721223002|MESH:C535615|ICD10:Q43.1|GARD:0000584 Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988. http://identifiers.org/omim/235760|ORPHA:2153|MESH:C535615|SNOMEDCT:721223002 http://purl.obolibrary.org/obo/MONDO_0009344 Hirschsprung disease with hypoplastic nails and dysmorphic facial features|Al-Gazali-Donnai-Mueller syndrome|Al Gazali-Donnai-Muller syndrome|Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features ordo_malformation_syndrome MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect biolink:Disease mondo MESH:C538120|OMIM:235750|UMLS:C1856111|GARD:0002696|MESH:C565517 http://identifiers.org/omim/235750|MESH:C538120|UMLS:C1856111|MESH:C565517 http://purl.obolibrary.org/obo/MONDO_0009343 Hirschsprung disease polydactyly heart disease|Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect gard_rare MONDO:0009342 Hirschsprung disease-deafness-polydactyly syndrome biolink:Disease mondo Orphanet:2155|SCTID:721221000|GARD:0000157|ICD10:Q43.1|MESH:C565518|OMIM:235740 Hirschsprung disease-deafness-polydactyly is an extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. http://identifiers.org/omim/235740|ORPHA:2155|MESH:C565518|UMLS:C2931452|SNOMEDCT:721221000 http://purl.obolibrary.org/obo/MONDO_0009342 Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness|Santos Mateus Leal syndrome|Hirschsprung disease with polydactyly, renal agenesis, and deafness|Hirschsprung disease, deafness and polydactyly|Santos-Mateus-Leal syndrome ordo_malformation_syndrome MONDO:0009341 Mowat-Wilson syndrome biolink:Disease mondo SCTID:703535000|GARD:0009673|Orphanet:2152|UMLS:C1856113|NCIT:C74999|DOID:0060485|MESH:C536990|ICD10:Q43.1|ICD9:759.89|OMIM:235730 Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations. ORPHA:2152|UMLS:C1856113|SNOMEDCT:703535000|MESH:C536990|DOID:0060485|NCIT:C74999|http://identifiers.org/omim/235730 http://purl.obolibrary.org/obo/MONDO_0009341 microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease|Hirschsprung disease-mental retardation syndrome|microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease|microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease|Hirschsprung disease mental retardation syndrome|mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease|intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease|Mowat-Wilson syndrome; MOWS|Hirschsprung disease-intellectual disability syndrome|microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease|Hirschsprung disease-intellectual disability syndrome|Mowat-Wilson syndrome|Hirschsprung disease intellectual disability syndrome|MOWS ordo_malformation_syndrome|gard_rare MONDO:0010341 autism, susceptibility to, X-linked 2 biolink:Disease mondo MESH:D038901|OMIM:300495 A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations). http://identifiers.org/omim/300495|MESH:D038901 http://purl.obolibrary.org/obo/MONDO_0010341 mental retardation, X-linked|AUTSX2|autism, susceptibility to, X-linked 2; AUTSX2|intellectual disability, X-linked|autism, susceptibility to, X-linked 2|autism, susceptibility to, X-linked type 2|susceptibility to X-linked autism 2 predisposition MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency biolink:Disease mondo MESH:C562995|ICD10:D55.2|Orphanet:90031|GARD:0003672|OMIM:235700 Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia. ORPHA:90031|MESH:C562995|http://identifiers.org/omim/235700 http://purl.obolibrary.org/obo/MONDO_0009340 hemolytic anemia, nonspherocytic, due to hexokinase deficiency|nonspherocytic hemolytic anemia due to hexokinase deficiency|hexokinase deficiency hemolytic anemia gard_rare|ordo_disease MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 biolink:Disease mondo OMIM:300494|UMLS:C1845341 http://identifiers.org/omim/300494|UMLS:C1845341 http://purl.obolibrary.org/obo/MONDO_0010340 ASPERGER syndrome, X-linked, susceptibility to, 1; ASPGX1|ASPGX1|Asperger syndrome, X-linked, susceptibility to, 1|Asperger syndrome, X-linked, susceptibility to, type 1|susceptibility to X-linked asperger syndrome 1 predisposition MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 biolink:Disease mondo OMIM:300497 http://identifiers.org/omim/300497 http://purl.obolibrary.org/obo/MONDO_0010343 susceptibility to X-linked asperger syndrome 2|ASPGX2|ASPERGER syndrome, X-linked, susceptibility to, 2; ASPGX2|Asperger syndrome, X-linked, susceptibility to, 2|Asperger syndrome, X-linked, susceptibility to, type 2 predisposition MONDO:0010342 autism, susceptibility to, X-linked 3 biolink:Disease mondo OMIM:300496 http://identifiers.org/omim/300496 http://purl.obolibrary.org/obo/MONDO_0010342 susceptibility to X-linked autism 3|autism, susceptibility to, X-linked 3; AUTSX3|AUTSX3|autism, susceptibility to, X-linked 3|autism, susceptibility to, X-linked type 3 predisposition MONDO:0010345 obsolete ocular albinism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010345 MONDO:0010344 intellectual disability, X-linked 45 biolink:Disease mondo MESH:C564503|OMIM:300498|UMLS:C1845333 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene. MESH:C564503|http://identifiers.org/omim/300498|UMLS:C1845333 http://purl.obolibrary.org/obo/MONDO_0010344 mental retardation, X-linked 45|non-syndromic X-linked intellectual disability caused by mutation in ZNF81|ZNF81 non-syndromic X-linked intellectual disability|MRX45|mental retardation, X-linked type 45|mental retardation, X-linked 45; MRX45|intellectual disability, X-linked type 45|intellectual disability, X-linked 45|intellectual disability, X-linked 45; MRX45 HGNC:11547 TAF15 biolink:OntologyClass mondo http://identifiers.org/hgnc/11547 MONDO:0010347 MRX84 biolink:Disease mondo OMIM:300505|UMLS:C1845297|MESH:C564501 MESH:C564501|http://identifiers.org/omim/300505|UMLS:C1845297 http://purl.obolibrary.org/obo/MONDO_0010347 intellectual disability, X-linked 84; MRX84|intellectual disability, X-linked 84|MRX84|mental retardation, X-linked 84; MRX84|mental retardation, X-linked 84 MONDO:0010346 obsolete MRX52 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010346 MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome biolink:Disease mondo SCTID:721007005 Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. SNOMEDCT:721007005 http://purl.obolibrary.org/obo/MONDO_0022316 hair defect with photosensitivity and intellectual disability syndrome HGNC:11540 TAF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/11540 MONDO:0024971 parturient paresis biolink:Disease mondo MESH:D010319|UMLS:C0030612|SCTID:405256006 A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes. MESH:D010319|SNOMEDCT:405256006|UMLS:C0030612 http://purl.obolibrary.org/obo/MONDO_0024971 animal milk fever|Pareses, parturient|milk fever, animal|parturient Pareses|paresis, parturient|fever, animal milk MONDO:0024973 pneumonia, atypical interstitial, of cattle biolink:Disease mondo MESH:D011016 A cattle disease of uncertain cause, probably an allergic reaction. MESH:D011016 http://purl.obolibrary.org/obo/MONDO_0024973 adenomatosis, pulmonary, bovine|Adenomatoses, bovine pulmonary|emphysema, acute bovine pulmonary|adenomatosis, bovine pulmonary|pulmonary Adenomatoses, bovine|fever, Fog|bovine pulmonary Adenomatoses|atypical interstitial pneumonia of cattle|pulmonary adenomatosis, bovine|Fog fever|bovine pulmonary adenomatosis MONDO:0022311 cote katsantoni syndrome biolink:Disease mondo MESH:C536449|UMLS:C2931195|GARD:0001554 MESH:C536449|UMLS:C2931195 http://purl.obolibrary.org/obo/MONDO_0022311 ectodermal dysplasia osteosclerosis gard_rare HGNC:23537 DHTKD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23537 MONDO:0022314 obsolete Hernandez Aguirre-Negrete syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022314 MONDO:0010327 HSD10 mitochondrial disease biolink:Disease mondo GARD:0010716|UMLS:C1846168|DOID:0060810|MESH:C536080|ICD10:G25.5|ICD10:E72.8|OMIM:300220|OMIM:300438|UMLS:CN204973|Orphanet:391417|MESH:C564560|SCTID:791000124107 HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. MESH:C536080|ORPHA:391417|MESH:C564560|DOID:0060810|UMLS:C1846168|http://identifiers.org/omim/300220|UMLS:CN204973|http://identifiers.org/omim/300438|SNOMEDCT:791000124107 http://purl.obolibrary.org/obo/MONDO_0010327 3H2MBD deficiency|3-hydroxyacyl-CoA dehydrogenase 2 deficiency|2M3HBA|MHBD deficiency|HSD10 mitochondrial disease|17-beta-hydroxysteroid dehydrogenase X deficiency|mental retardation, X-linked, syndromic 10|17 beta-hydroxysteroid dehydrogenase type 10 deficiency|2-methyl-3-hydroxybutyric aciduria|17-beta-hydroxysteroid dehydrogenase 10 deficiency|mental retardation with chorioathetosis and abnormal behavior|3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency|chorioathetosis with mental retardation and abnormal behavior|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome|HSD10 deficiency, atypical type|HSD17B10 deficiency|MRXS10|mental retardation, X-linked, syndromic 10; MRXS10|mental retardation, X-linked syndromic 10|syndromic X-linked intellectual disability type 10|HSD10 deficiency|hydroxyacyl-CoA dehydrogenase II deficiency|HSD10MD|mental retardation, X-linked, syndromic type 10 ordo_clinical_subtype|ordo_disease MONDO:0010326 intellectual disability, X-linked 46 biolink:Disease mondo MESH:C564513|UMLS:C1845526|OMIM:300436 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene. UMLS:C1845526|MESH:C564513|http://identifiers.org/omim/300436 http://purl.obolibrary.org/obo/MONDO_0010326 ARHGEF6 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 46|MRX46|intellectual disability, X-linked type 46|mental retardation, X-linked 46; MRX46|intellectual disability, X-linked 46|intellectual disability, X-linked 46; MRX46|non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6|mental retardation, X-linked 46 MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome biolink:Disease mondo DOID:0080327|Orphanet:500135|UMLS:C1856053|OMIM:236500|MESH:C565507 DOID:0080327|UMLS:C1856053|ORPHA:500135|MESH:C565507|http://identifiers.org/omim/236500 http://purl.obolibrary.org/obo/MONDO_0009359 hydranencephaly with renal aplasia-dysplasia|MARCH|MARCH syndrome|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly; MARCH|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly ordo_malformation_syndrome MONDO:0010329 MRX77 biolink:Disease mondo UMLS:C1845499|OMIM:300454|MESH:C564511 http://identifiers.org/omim/300454|UMLS:C1845499|MESH:C564511 http://purl.obolibrary.org/obo/MONDO_0010329 intellectual disability, X-linked 77|MRX77|intellectual disability, X-linked 77; MRX77|mental retardation, X-linked 77|mental retardation, X-linked 77; MRX77 MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia biolink:Disease mondo GARD:0010774|OMIM:612702|DOID:0090086|MESH:C567199|UMLS:C3552574|ICD10:E23.0 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene. http://identifiers.org/omim/612702|DOID:0090086|UMLS:C3552574|MESH:C567199 http://purl.obolibrary.org/obo/MONDO_0012988 Kallmann syndrome 6|HH6|hypogonadotropic hypogonadism caused by mutation in FGF8|hypogonadotropic hypogonadism 6 with or without anosmia|FGF8 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 6 with or without anosmia; HH6|KAL6 gard_rare MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome biolink:Disease mondo MESH:C536074|UMLS:C1856054|GARD:0009956|OMIM:236450 UMLS:C1856054|MESH:C536074|http://identifiers.org/omim/236450 http://purl.obolibrary.org/obo/MONDO_0009358 cerebroosteonephosis syndrome|cond|Hutterite cerebroosteonephrodysplasia syndrome gard_rare MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome biolink:Disease mondo Orphanet:231401|MESH:C563023|ICD10:D46.7|ICD9:282.49|OMIM:300448|UMLS:C0585216|SCTID:307343001|ICD10:D56.0 Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH). UMLS:C0585216|ORPHA:231401|SNOMEDCT:307343001|MESH:C563023|http://identifiers.org/omim/300448 http://purl.obolibrary.org/obo/MONDO_0010328 Hemoglobin H disease, acquired|ATMDS|acquired HbH disease|acquired hemoglobin H disease|ALPHA-thalassemia myelodysplasia syndrome; ATMDS|ALPHA-thalassemia myelodysplasia syndrome ordo_disease MONDO:0012989 microcephaly 7, primary, autosomal recessive biolink:Disease mondo UMLS:C2675187|DOID:0070278|MESH:C567198|OMIM:612703 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene. MESH:C567198|UMLS:C2675187|http://identifiers.org/omim/612703|DOID:0070278 http://purl.obolibrary.org/obo/MONDO_0012989 microcephaly 7, primary, autosomal recessive; MCPH7|autosomal recessive primary microcephaly caused by mutation in STIL|MCPH7|STIL autosomal recessive primary microcephaly|microcephaly 7, primary, autosomal recessive MONDO:0009357 humeroradial synostosis with craniofacial anomalies biolink:Disease mondo MESH:C566888|OMIM:236410|UMLS:C1968717 MESH:C566888|http://identifiers.org/omim/236410|UMLS:C1968717 http://purl.obolibrary.org/obo/MONDO_0009357 humeroradial synostosis with craniofacial anomalies MONDO:0009356 autosomal recessive humeroradial synostosis biolink:Disease mondo OMIM:236400 Autosomal recessive form of humeroradial synostosis (disease). http://identifiers.org/omim/236400 http://purl.obolibrary.org/obo/MONDO_0009356 humeroradial/multiple synostosis syndrome|humeroradial synostosis (disease), autosomal recessive|humeroradial synostosis|autosomal recessive humeroradial synostosis (disease) MONDO:0009355 Hooft disease biolink:Disease mondo MESH:C535329|OMIM:236300|GARD:0009702|UMLS:C0268479 MESH:C535329|http://identifiers.org/omim/236300|UMLS:C0268479 http://purl.obolibrary.org/obo/MONDO_0009355 delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids|Hooft disease gard_rare MONDO:0009354 methylcobalamin deficiency type cblE biolink:Disease mondo UMLS:C1856057|Orphanet:2169|NCIT:C142173|MESH:C565510|EFO:0005568|GARD:0002732|OMIM:236270|DOID:0050732|ICD10:E72.1 An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia. ORPHA:2169|UMLS:C1856057|DOID:0050732|MESH:C565510|NCIT:C142173|http://identifiers.org/omim/236270 http://purl.obolibrary.org/obo/MONDO_0009354 homocystinuria due to defect in methylation Cbl e|vitamin B12-responsive homocystinuria, cblE type|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type|functional methionine synthase deficiency type cblE|HMAE|homocystinuria-megaloblastic anemia, cblE complementation type; HMAE|methylcobalamin deficiency, cblE type|methylmalonic aciduria and homocystinuria type cblE|homocystinuria-megaloblastic anemia, cblE complementation type gard_rare|ordo_clinical_subtype MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency biolink:Disease mondo SCTID:41797007|ICD10:E72.1|OMIM:236250|GARD:0002734|Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations. SNOMEDCT:41797007|ORPHA:395|http://identifiers.org/omim/236250 http://purl.obolibrary.org/obo/MONDO_0009353 homocystinuria due to MTHFR deficiency|5,10 alpha methylenetetrahydro-folate reductase deficiency|methylene tetrahydrofolate reductase deficiency|MTHFR deficiency, thermolabile type|Methylenetetrahydro-folate reductase deficiency|methylenetetrahydrofolate reductase deficiency|homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity|Homocysteinemia due to methylenetetrahydro-folate reductase deficiency|MTHFR deficiency|5,10-alpha-methylenetetrahydro-folate reductase deficiency|Homocysteinuria due to methylenetetrahydro-folate reductase deficiency ordo_disease MONDO:0010330 primary ciliary dyskinesia-retinitis pigmentosa syndrome biolink:Disease mondo UMLS:C2749137|MESH:C567595|OMIM:300455|Orphanet:247522 Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss. ORPHA:247522|http://identifiers.org/omim/300455|MESH:C567595|UMLS:C2749137 http://purl.obolibrary.org/obo/MONDO_0010330 retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness ordo_disease MONDO:0009352 classic homocystinuria biolink:Disease mondo Orphanet:394|OMIM:236200|MedDRA:10071093|SCTID:24308003|GARD:0006667|UMLS:C0751202|ICD10:E72.1 Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system. ORPHA:394|UMLS:C0751202|SNOMEDCT:24308003|http://identifiers.org/omim/236200|MEDDRA:10071093 http://purl.obolibrary.org/obo/MONDO_0009352 homocystinuria with or without response to pyridoxine|homocystinuria due to CBS deficiency|homocystinuria due to cystathionine beta-synthase deficiency|cystathionine beta-synthase deficiency|hyperhomocysteinemia, thrombotic, CBS-related|CBS deficiency ordo_disease|gard_rare MONDO:0012993 dyschromatosis universalis hereditaria 2 biolink:Disease mondo UMLS:C2675183|MESH:C567194|OMIM:612715 MESH:C567194|UMLS:C2675183|http://identifiers.org/omim/612715 http://purl.obolibrary.org/obo/MONDO_0012993 dyschromatosis universalis hereditaria 2; DUH2|dyschromatosis universalis hereditaria 2|DUH2 MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency biolink:Disease mondo SCTID:45116002|ICD10:G24.1|GARD:0010365|Orphanet:70594|DOID:0111168|MESH:C562657|OMIM:612716|UMLS:C0268468|ICD9:277.89 Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development. ORPHA:70594|SNOMEDCT:45116002|MESH:C562657|UMLS:C0268468|http://identifiers.org/omim/612716|DOID:0111168 http://purl.obolibrary.org/obo/MONDO_0012994 dystonia, DOPA-responsive, due to sepiapterin reductase deficiency|SRD|sepiapterin reductase deficiency|DRD due to SRD|DYT-SPR|SPR deficiency|dopa-responsive dystonia due to sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient DRD ordo_disease MONDO:0009351 homocarnosinosis biolink:Disease mondo ICD9:277.89|OMIM:236130|UMLS:C0268632|ICD10:E72.8|DOID:0060177|Orphanet:2168|SCTID:61764000|GARD:0002730|MESH:C535328|UMLS:C3495554 Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant. SNOMEDCT:61764000|UMLS:C3495554|MESH:C535328|DOID:0060177|http://identifiers.org/omim/236130|UMLS:C0268632|ORPHA:2168 http://purl.obolibrary.org/obo/MONDO_0009351 homocarnosinosis|Homocarnosinase deficiency ordo_disease MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome biolink:Disease mondo UMLS:C1845450|OMIM:300471|MESH:C564510|Orphanet:85280|ICD10:Q87.8 An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. ORPHA:85280|MESH:C564510|http://identifiers.org/omim/300471|UMLS:C1845450 http://purl.obolibrary.org/obo/MONDO_0010332 cubitus valgus with mental retardation and unusual facies|cubitus valgus with intellectual disability and unusual facies ordo_malformation_syndrome MONDO:0012991 Kahrizi syndrome biolink:Disease mondo DOID:0050807|MESH:C567196|UMLS:CN200191|OMIM:612713|Orphanet:168972|UMLS:C2675185 An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene. DOID:0050807|ORPHA:168972|MESH:C567196|UMLS:CN200191|UMLS:C2675185|http://identifiers.org/omim/612713 http://purl.obolibrary.org/obo/MONDO_0012991 mental retardation, cataract, coloboma, and kyphosis, autosomal recessive|Kahrizi syndrome|Kahrizi syndrome; KHRZ|KHRZ|intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive MONDO:0009350 Holzgreve-Wagner-Rehder syndrome biolink:Disease mondo ICD10:Q87.8|DOID:0060566|UMLS:C1856095|MESH:C535327|Orphanet:2167|OMIM:236110|GARD:0002728 A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. UMLS:C1856095|MESH:C535327|http://identifiers.org/omim/236110|DOID:0060566|ORPHA:2167 http://purl.obolibrary.org/obo/MONDO_0009350 Complex congenital heart defect, renal agenesis and cleft lip and palate|Holzgreve syndrome|Holzgreve Wagner Rehder syndrome|cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome ordo_malformation_syndrome MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome biolink:Disease mondo UMLS:C2675184|SCTID:722207000|UMLS:C4302747|OMIM:612714|Orphanet:199337|MESH:C567195 This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. ORPHA:199337|UMLS:C4302747|SNOMEDCT:722207000|MESH:C567195|UMLS:C2675184|http://identifiers.org/omim/612714 http://purl.obolibrary.org/obo/MONDO_0012992 pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome|exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis ordo_disease MONDO:0010331 coronary heart disease, susceptibility to, 3 biolink:Disease mondo OMIM:300464 http://identifiers.org/omim/300464 http://purl.obolibrary.org/obo/MONDO_0010331 coronary heart disease, susceptibility to, type 3|Chds3|coronary heart disease, susceptibility to, 3 predisposition MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome biolink:Disease mondo MESH:C535632|SCTID:720636001|OMIM:612726|UMLS:C0795969|Orphanet:1415|GARD:0009280 Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated. ORPHA:1415|http://identifiers.org/omim/612726|UMLS:C0795969|MESH:C535632|SNOMEDCT:720636001 http://purl.obolibrary.org/obo/MONDO_0012997 Hardikar syndrome|HARDIKAR syndrome ordo_malformation_syndrome MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome biolink:Disease mondo Orphanet:369939|MESH:C564508|UMLS:CN204816|OMIM:300475|ICD10:Q87.8 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). MESH:C564508|ORPHA:369939|UMLS:CN204816|http://identifiers.org/omim/300475 http://purl.obolibrary.org/obo/MONDO_0010334 DDCH|deafness, dystonia, and cerebral hypomyelination; DDCH|deafness, dystonia, and cerebral hypomyelination|contiguous ABCD1/Dxs1375E deletion syndrome ordo_malformation_syndrome HGNC:11559 TALDO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11559 MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:52055|OMIM:300472|MESH:C564509|DOID:0060816|GARD:0012486|SCTID:722282008 Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. MESH:C564509|SNOMEDCT:722282008|ORPHA:52055|DOID:0060816|http://identifiers.org/omim/300472 http://purl.obolibrary.org/obo/MONDO_0010333 intellectual disability, X-linked, syndromic 28|corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia|MRXS28|Graham-Cox syndrome|corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia|mental retardation, X-linked, syndromic 28|corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia|agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome|corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia ordo_malformation_syndrome MONDO:0012998 faciocardiomelic syndrome biolink:Disease mondo OMIM:612731|UMLS:C2674798|MESH:C567176 http://identifiers.org/omim/612731|UMLS:C2674798|MESH:C567176 http://purl.obolibrary.org/obo/MONDO_0012998 faciocardiomelic syndrome MONDO:0010336 orofaciodigital syndrome VIII biolink:Disease mondo ICD10:Q87.0|DOID:0060378|SCTID:722106001|GARD:0004060|Orphanet:2755|OMIM:300484|MESH:C557820 Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. ORPHA:2755|SNOMEDCT:722106001|DOID:0060378|UMLS:C0796101|http://identifiers.org/omim/300484|MESH:C557820 http://purl.obolibrary.org/obo/MONDO_0010336 OFD syndrome 8|oral-facial-digital syndrome type 8|orofaciodigital syndrome VIII; OFD8|orofaciodigital syndrome VIII|Edwards syndrome|oral facial digital syndrome type 8|orofaciodigital syndrome type 8|orofaciodigital syndrome, Edwards type|oral-facial-digital syndrome, Edwards type|oral-Facial-digital syndrome, type 8|orofaciodigital syndrome type VIII|orofaciodigital syndrome 8|oral facial digital syndrome 8|Ofds 8|OFD8|oral-Facial-digital syndrome with hypoplastic Epiglottis ordo_malformation_syndrome MONDO:0012995 MYP15 biolink:Disease mondo OMIM:612717|UMLS:C2675180|MESH:C567193 MESH:C567193|UMLS:C2675180|http://identifiers.org/omim/612717 http://purl.obolibrary.org/obo/MONDO_0012995 myopia 15, autosomal dominant|myopia 15, autosomal dominant; MYP15|MYP15 HGNC:11557 TAL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11557 MONDO:0012996 AGAT deficiency biolink:Disease mondo Orphanet:35704|GARD:0010323|ICD10:E72.8|UMLS:C2675179|SCTID:702440000|ICD9:270.8|MESH:C567192|DOID:0050712|OMIM:612718 L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. http://identifiers.org/omim/612718|DOID:0050712|SNOMEDCT:702440000|ORPHA:35704|MESH:C567192|UMLS:C2675179 http://purl.obolibrary.org/obo/MONDO_0012996 cerebral creatine deficiency syndrome 3; CCDS3|disorder of glycine amidinotransferase activity|disorder of glycine amidinotransferase activity|L-arginine:glycine amidinotransferase deficiency|creatine deficiency syndrome due to AGAT deficiency|GATM deficiency|glycine amidinotransferase activity disease|arginine:glycine amidinotransferase deficiency|AGAT deficiency|CCDS3|cerebral creatine deficiency syndrome type 3|cerebral creatine deficiency syndrome 3 ordo_disease MONDO:0010335 X-linked cone-rod dystrophy 3 biolink:Disease mondo GARD:0010654|DOID:0111007|MESH:C564507|OMIM:300476 DOID:0111007|MESH:C564507|http://identifiers.org/omim/300476 http://purl.obolibrary.org/obo/MONDO_0010335 cone-rod dystrophy, X-linked, 3|CORDX3|cone-rod dystrophy X-linked 3|cone-rod dystrophy, X-linked, type 3|cone-rod dystrophy, X-linked, 3; CORDX3|X-linked cone-rod dystrophy type 3 gard_rare HGNC:11556 TAL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11556 MONDO:0024969 parasitic disease, non-human animal biolink:Disease mondo MESH:D010273|UMLS:C0030500 Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary. UMLS:C0030500|MESH:D010273 http://purl.obolibrary.org/obo/MONDO_0024969 disease, animal parasitic|parasitic disease, animal|animal parasitic diseases|animal parasitic disease|diseases, animal parasitic MONDO:0022308 corticobasal degeneration disorder biolink:Disease mondo GARD:0000046|NCIT:C129069 A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment. NCIT:C129069 http://purl.obolibrary.org/obo/MONDO_0022308 cortico-basal ganglionic Degeneration (CBGD)|CBGD|corticobasal syndrome|cortical basal ganglionic Degeneration|corticobasal degeneration|corticodentatonigral degeneration with neuronal achromasia|cortical-basal ganglionic degeneration|cortical basal ganglionic degeneration gard_rare HGNC:11551 BRF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11551 MONDO:0012990 Leber congenital amaurosis 13 biolink:Disease mondo ICD10:H35.5|MESH:C567197|DOID:0110330|UMLS:C2675186|OMIM:612712|GARD:0010882 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene. DOID:0110330|MESH:C567197|UMLS:C2675186|http://identifiers.org/omim/612712 http://purl.obolibrary.org/obo/MONDO_0012990 LCA13|Leber congenital amaurosis caused by mutation in RDH12|retinitis pigmentosa 53|Leber congenital amaurosis 13|Leber congenital amaurosis 13; LCA13|Leber congenital amaurosis type 13|RDH12 Leber congenital amaurosis gard_rare HGNC:23505 BMS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23505 HGNC:23503 SLITRK6 biolink:OntologyClass mondo http://identifiers.org/hgnc/23503 MONDO:0022380 acute lymphoblastic leukemia congenital sporadic aniridia biolink:Disease mondo GARD:0000523 A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia. http://purl.obolibrary.org/obo/MONDO_0022380 gard_rare HGNC:11521 TAC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11521 HGNC:11529 EPCAM biolink:OntologyClass mondo http://identifiers.org/hgnc/11529 HGNC:11528 TACR3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11528 MONDO:0010396 developmental and epileptic encephalopathy, 2 biolink:Disease mondo Orphanet:505652|OMIM:300672|ICD10:G40.4|UMLS:C1839333|MESH:C564064 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene. ORPHA:505652|http://identifiers.org/omim/300672|UMLS:C1839333|MESH:C564064 http://purl.obolibrary.org/obo/MONDO_0010396 epileptic encephalopathy, early infantile, 2|epileptic encephalopathy, early infantile, 2; EIEE2|infantile spasm syndrome, X-linked 2|DEE2|epileptic encephalopathy, early infantile, type 2|EIEE2|early infantile epileptic encephalopathy caused by mutation in CDKL5|CDKL5 early infantile epileptic encephalopathy ordo_disease MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity biolink:Disease mondo ICD10:E79.8|OMIM:300661|Orphanet:3222|UMLS:C1970827|SCTID:723454008|MESH:C567064 Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). ORPHA:3222|http://identifiers.org/omim/300661|MESH:C567064|UMLS:C1970827|SNOMEDCT:723454008 http://purl.obolibrary.org/obo/MONDO_0010395 PRPS1 superactivity|gout, PRPS-related|PRPP synthetase superactivity|phosphoribosylpyrophosphate synthetase superactivity ordo_disease MONDO:0010398 syndromic X-linked intellectual disability 14 biolink:Disease mondo MESH:C567063|DOID:0060821|ICD10:Q87.8|OMIM:300676|UMLS:C1970822 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene. MESH:C567063|http://identifiers.org/omim/300676|UMLS:C1970822|DOID:0060821 http://purl.obolibrary.org/obo/MONDO_0010398 mental retardation, X-linked, syndromic 14; MRXS14|intellectual disability, X-linked, syndromic 14; MRXS14|intellectual disability, X-linked, syndromic type 14|mental retardation, X-linked, syndromic type 14|MRXS14|intellectual disability, X-linked, syndromic 14|syndromic X-linked intellectual disability type 14|UPF3B X-linked syndromic intellectual disability|mental retardation, X-linked, syndromic 14|X-linked syndromic intellectual disability caused by mutation in UPF3B MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly biolink:Disease mondo OMIM:300673|Orphanet:209370|ICD10:Q02|MESH:C566878|UMLS:C1968556|NCIT:C132293 An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy. http://identifiers.org/omim/300673|ORPHA:209370|NCIT:C132293|MESH:C566878|UMLS:C1968556 http://purl.obolibrary.org/obo/MONDO_0010397 severe congenital encephalopathy due to MECP2 mutation|encephalopathy, neonatal severe, due to MECP2 mutations|severe Neonatal encephalopathy due to MECP2 mutations ordo_disease HGNC:11530 TACSTD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11530 MONDO:0010399 chromosome Xp21 deletion syndrome biolink:Disease mondo DOID:0060427|OMIM:300679|UMLS:C0795887|Orphanet:261476|ICD10:Q99.8|SCTID:297257004|ICD9:277.6 ORPHA:261476|http://identifiers.org/omim/300679|UMLS:C0795887|SNOMEDCT:297257004|DOID:0060427 http://purl.obolibrary.org/obo/MONDO_0010399 chromosome Xp21 deletion syndrome|complex glycerol kinase deficiency|Xp21 microdeletion syndrome|monosomy Xp21|Xp21 contiguous gene deletion syndrome|Complex Glycerol kinase deficiency|Del(X)(p21)|Glycerol kinase deficiency-contiguous gene syndrome ordo_disease HGNC:11536 TAF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11536 HGNC:11535 TAF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11535 HGNC:23508 STOX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23508 MONDO:0010390 ocular albinism with late-onset sensorineural deafness biolink:Disease mondo UMLS:C1845069|SCTID:722054007|ICD10:E70.3|OMIM:300650|GARD:0000592|Orphanet:1000 Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome. MESH:C537043|ORPHA:1000|SNOMEDCT:722054007|UMLS:C1845069|http://identifiers.org/omim/300650 http://purl.obolibrary.org/obo/MONDO_0010390 albinism, ocular, with late-onset sensorineural deafness; OASD|ocular albinism with sensorineural deafness|OASD|albinism ocular late onset sensorineural deafness|deafness and ocular albinism|albinism, ocular, with late-onset sensorineural deafness ordo_disease MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency biolink:Disease mondo ICD10:E74.0|UMLS:C1970848|MESH:C567067|NCIT:C126738|GARD:0007389|Orphanet:713|OMIM:300653 Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. http://identifiers.org/omim/300653|MESH:C567067|UMLS:C1970848|ORPHA:713|UMLS:C0684324|NCIT:C126738 http://purl.obolibrary.org/obo/MONDO_0010392 PHOSPHOGLYCERATE KINASE 1 deficiency|glycogenosis due to phosphoglycerate kinase 1 deficiency|PGK deficiency|Pgk1 deficiency|Phosphoglycerate kinase deficiency|glycogen storage disease caused by mutation in PGK1|GSD due to phosphoglycerate kinase 1 deficiency|PGK1 glycogen storage disease ordo_disease MONDO:0010391 angioma serpiginosum, X-linked biolink:Disease mondo OMIM:300652|GARD:0010188 http://identifiers.org/omim/300652 http://purl.obolibrary.org/obo/MONDO_0010391 angioma serpiginosum, X-linked MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010394 MONDO:0010393 intellectual disability, X-linked 93 biolink:Disease mondo UMLS:C1970841|MESH:C567066|OMIM:300659 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene. http://identifiers.org/omim/300659|MESH:C567066|UMLS:C1970841 http://purl.obolibrary.org/obo/MONDO_0010393 intellectual disability, X-linked type 93|intellectual disability, X-linked 93|mental retardation, X-linked 93; MRX93|BRWD3 non-syndromic X-linked intellectual disability|mental retardation, X-linked 93|intellectual disability, X-linked, with macrocephaly|MRX93|mental retardation, X-linked type 93|intellectual disability, X-linked 93; MRX93|non-syndromic X-linked intellectual disability caused by mutation in BRWD3|mental retardation, X-linked, with macrocephaly MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria biolink:Disease mondo OMIM:238710|MESH:C565499|UMLS:C1855927 MESH:C565499|UMLS:C1855927|http://identifiers.org/omim/238710 http://purl.obolibrary.org/obo/MONDO_0009389 hyperlysinemia due to defect in lysine TRANSPORT into mitochondria MONDO:0009388 hyperlysinemia (disease) biolink:Disease mondo UMLS:C0268553|NCIT:C123433|OMIM:238700|SCTID:58558003|ICD10:E72.3|Orphanet:2203|ICD9:270.7|GARD:0002828|DOID:9274|HP:0002161 Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present. http://identifiers.org/omim/238700|DOID:9274|SNOMEDCT:58558003|MESH:D020167|UMLS:C0936256|UMLS:C0268553|NCIT:C123433|ORPHA:2203 http://purl.obolibrary.org/obo/MONDO_0009388 hyperlysinemia type I|Alpha-aminoadipic semialdehyde synthase deficiency|L-lysine:NAD-oxido-reductase deficiency|L-lysine NAD-oxido-reductase deficiency|hyperlysinemia, type I|hyperlysinemia|lysine:Alpha-ketoglutarate reductase deficiency|lysine intolerance|lysine alpha-ketoglutarate reductase deficiency|hyperlysinemia, type 1 ordo_disease MONDO:0009387 familial lipoprotein lipase deficiency biolink:Disease mondo SCTID:275598004|Orphanet:309015|DOID:14118|GARD:0012241|COHD:437521|ICD9:272.3|NCIT:C84771|ICD10:E78.3|MESH:D008072|OMIM:238600 Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. DOID:14118|ORPHA:309015|http://identifiers.org/omim/238600|NCIT:C84771|SNOMEDCT:275598004|MESH:D008072 http://purl.obolibrary.org/obo/MONDO_0009387 hyperlipoproteinemia, type 1|lipoprotein lipase deficiency, familial|hyperchylomicronemia|mixed hyperglyceridemia|familial lipoprotein lipase deficiency (disorder) [ambiguous]|lipd deficiency|hyperchylomicronemia, familial|hyperlipoproteinemia type I|hyperlipoproteinemia, type 1A|familial fat-induced hypertriglyceridemia|familial hyperlipoproteinemia type I|lipase D deficiency|chylomicronemia, familial|hyperlipemia, idiopathic, Burger-Grutz type|endogenous hypertriglyceridaemia|hyperlipoproteinemia, type I|LPL deficiency|Burger-Grutz syndrome|lipoprotein lipase deficiency|familial lipoprotein lipase deficiency with type I phenotype|type I hyperlipoproteinemia|Fredrickson type I lipaemia|familial LPL deficiency|familial hyperchylomicronemia|hyperlipemia, essential familial|familial chylomiconemia syndrome|hypercholesterinaemic xanthomatosis|Fredrickson type I hyperlipoproteinemia gard_rare|ordo_clinical_subtype MONDO:0009386 hyperlexia biolink:Disease mondo OMIM:238350|MESH:C565500 MESH:C565500|http://identifiers.org/omim/238350 http://purl.obolibrary.org/obo/MONDO_0009386 hyperlexia|compulsive reading|precocious reading MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency biolink:Disease mondo ICD10:D82.3|MESH:C564469|Orphanet:538934|UMLS:C1845076|NCIT:C126295|OMIM:300635|GARD:0010916|DOID:0060706 A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2. UMLS:C1845076|http://identifiers.org/omim/300635|MESH:C564469|NCIT:C126295|ORPHA:538934|DOID:0060706 http://purl.obolibrary.org/obo/MONDO_0010385 lymphoproliferative syndrome, X-linked, 2|lymphoproliferative syndrome, X-linked, type 2|XLP2|X-linked lymphoproliferative syndrome type 2|XIAP deficiency/XLPs|XIAP-related lymphoproliferative disease, X-linked|XIAP deficiency|lymphoproliferative syndrome, X-linked, 2; XLP2|Xiap deficiency ordo_disease|gard_rare MONDO:0009385 hyperleucine-Isoleucinemia biolink:Disease mondo SCTID:7046009|UMLS:C0268574|OMIM:238340|MESH:C562674 http://identifiers.org/omim/238340|MESH:C562674|UMLS:C0268574|SNOMEDCT:7046009 http://purl.obolibrary.org/obo/MONDO_0009385 hyperleucine-Isoleucinemia MONDO:0009384 Leydig cell hypoplasia, type 1 biolink:Disease mondo OMIM:238320 Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene. http://identifiers.org/omim/238320 http://purl.obolibrary.org/obo/MONDO_0009384 hypergonadotropic hypogonadism, Male, due to Lhcgr defect|luteinizing hormone resistance, female|Leydig cell hypoplasia, complete|Leydig cell hypoplasia with male pseudohermaphroditism|Leydig cell hypoplasia, type I|Leydig cell hypoplasia, partial|Leydig cell agenesis|Leydig cell Hypoplasia, type 2|Leydig cell hypoplasia caused by mutation in LHCGR|LHCGR Leydig cell hypoplasia MONDO:0010384 hypospadias 1, X-linked biolink:Disease mondo MESH:C567482|OMIM:300633|UMLS:C2678098 UMLS:C2678098|http://identifiers.org/omim/300633|MESH:C567482 http://purl.obolibrary.org/obo/MONDO_0010384 hypospadias 1, X-linked; HYSP1|HYSP1|hypospadias 1, X-linked MONDO:0009383 transient familial neonatal hyperbilirubinemia biolink:Disease mondo MESH:C562692|Orphanet:2312|OMIM:237900|GARD:0002791|UMLS:C0270210|ICD10:P59.8|GARD:0003304 http://identifiers.org/omim/237900|MESH:C562692|ORPHA:2312|UMLS:C0270210 http://purl.obolibrary.org/obo/MONDO_0009383 breast milk jaundice|HBLRTFN|transient familial hyperbilirubinemia|hyperbilirubinemia, transient familial neonatal|hyperbilirubinemia, transient familial neonatal; HBLRTFN|hyperbilirubinemia transient familial neonatal|Lucey-Driscoll syndrome gard_rare|ordo_disease MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010387 MONDO:0010386 immunodeficiency 33 biolink:Disease mondo UMLS:C1970879|GARD:0012915|MESH:C564468|OMIM:300640|MESH:C567070|ICD10:D84.8|OMIM:300636|UMLS:C1845073|Orphanet:319612 Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene. MESH:C567070|http://identifiers.org/omim/300636|http://identifiers.org/omim/300640|UMLS:C1845073|ORPHA:319612|UMLS:C1970879|MESH:C564468 http://purl.obolibrary.org/obo/MONDO_0010386 invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG|invasive pneumococcal disease, recurrent isolated, 2; IPD2|X-linked MSMD due to IKBKG deficiency|IKBKG X-linked mendelian susceptibility to mycobacterial diseases|atypical Mycobacteriosis, familial, X-linked 1|IMD33|immunodeficiency type 33|NF-kappa B essential modulator deficiency|invasive pneumococcal disease, recurrent isolated, type 2|X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency|X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency|familial X-linked 1 atypical mycobacteriosis|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG|NEMO deficiency syndrome|invasive pneumococcal disease, recurrent isolated, 2|IPD2|IKBKG invasive pneumococcal disease, recurrent isolated|X-linked MSMD due to NEMO deficiency|immunodeficiency 33, Mycobacteriosis, X-linked predisposition|ordo_etiological_subtype MONDO:0009382 PSHB biolink:Disease mondo OMIM:237800 http://identifiers.org/omim/237800 http://purl.obolibrary.org/obo/MONDO_0009382 PSHB|hyperbilirubinemia, shunt, primary|hyperbilirubinemia, shunt, primary; PSHB MONDO:0009381 hyperbilirubinemia, conjugated, type 3 biolink:Disease mondo SCTID:235906009|OMIM:237550|MESH:C562885|UMLS:C0400964 http://identifiers.org/omim/237550|MESH:C562885|UMLS:C0400964|SNOMEDCT:235906009 http://purl.obolibrary.org/obo/MONDO_0009381 hyperbilirubinemia, conjugated, type III MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency biolink:Disease mondo ICD10:D84.8|MESH:C567068|UMLS:C1970859|Orphanet:319623|OMIM:300645 Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene. ORPHA:319623|http://identifiers.org/omim/300645|MESH:C567068|UMLS:C1970859 http://purl.obolibrary.org/obo/MONDO_0010389 atypical Mycobacteriosis, familial, X-linked 2|immunodeficiency type 34|immunodeficiency 34|immunodeficiency 34, Mycobacteriosis, X-linked|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB|immunodeficiency 34; IMD34|CYBB X-linked mendelian susceptibility to mycobacterial diseases|X-linked MSMD due to CYBB deficiency|IMD34 predisposition|ordo_etiological_subtype MONDO:0009380 Dubin-Johnson syndrome biolink:Disease mondo SCTID:44553005|GARD:0002793|NCIT:C34741|UMLS:C0022350|OMIM:237500|MedDRA:10013800|MESH:D007566|GARD:0006289|Orphanet:234|DOID:12308|ICD10:E80.6 Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells. MESH:D007566|DOID:12308|UMLS:C0022350|http://identifiers.org/omim/237500|SNOMEDCT:44553005|MEDDRA:10013800|ORPHA:234|NCIT:C34741 http://purl.obolibrary.org/obo/MONDO_0009380 Dubin-Johnson syndrome; DJS|hyperbilirubinemia 2|hyperbilirubinemia type 2|Sprinz-Nelson syndrome|chronic idiopathic jaundice|hyperbilirubinemia, Dubin-Johnson type|Dubin Johnson syndrome|Dubin-Johnson syndrome|conjugated hyperbilirubinemia|DJS|Dubin-Sprinz disease ordo_disease|gard_rare MONDO:0036976 benign epithelial neoplasm biolink:Disease mondo NCIT:C4092|ICDO:8011/0|UMLS:C0334232|ICDO:8010/0 A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. NCIT:C4092|UMLS:C0334232 http://purl.obolibrary.org/obo/MONDO_0036976 epithelioma, benign|benign epithelioma|epithelial neoplasm, benign|benign tumor of epithelium|benign epithelial tumor|benign tumor of the epithelium|benign neoplasm of epithelium|benign neoplasm of the epithelium|benign epithelial neoplasm MONDO:0010388 rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked biolink:Disease mondo UMLS:C1845070|OMIM:300643|MESH:C564467 http://identifiers.org/omim/300643|UMLS:C1845070|MESH:C564467 http://purl.obolibrary.org/obo/MONDO_0010388 ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked; RESDX|ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked; RESDX|rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked|RESDX|rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked OBO:so#member_of member_of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/so#member_of HGNC:11503 SYNJ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11503 MONDO:0010381 Tn polyagglutination syndrome biolink:Disease mondo OMIM:300622|MESH:C562719|UMLS:C0272137 UMLS:C0272137|http://identifiers.org/omim/300622|MESH:C562719 http://purl.obolibrary.org/obo/MONDO_0010381 Tn polyagglutination syndrome; TNPS|Tn polyagglutination syndrome|galactosyltransferase deficiency|TNPS MONDO:0010380 cataract, ataxia, short stature, and mental retardation biolink:Disease mondo GARD:0010222|OMIM:300619|UMLS:C1845094|MESH:C535345 http://identifiers.org/omim/300619|UMLS:C1845094|MESH:C535345 http://purl.obolibrary.org/obo/MONDO_0010380 cataract, ataxia, short stature, and mental retardation|cataracts, ataxia, short stature, and mental retardation|cataract, ataxia, short stature, and intellectual disability|Casm syndrome|cataracts, ataxia, short stature, and intellectual disability MONDO:0010383 fragile X syndrome biolink:Disease mondo NCIT:C84717|SCTID:613003|UMLS:C0016667|OMIM:300624|GARD:0006464|ICD10:Q99.2|DOID:14261|COHD:436803|MedDRA:10017324|Orphanet:908|ICD9:759.83|MESH:D005600 A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. NCIT:C84717|UMLS:C0016667|http://identifiers.org/omim/300624|SNOMEDCT:613003|DOID:14261|UMLS:C0751156|MEDDRA:10017324|ORPHA:908|MESH:D005600 http://purl.obolibrary.org/obo/MONDO_0010383 FRAXA syndrome|primary ovarian insufficiency, fragile X-associated|fragile 10 intellectual disability syndrome|X-linked mental retardation and macroorchidism|fragile X syndrome; FXS|X-linked intellectual disability and macroorchidism|fragile 10 premature ovarian failure|fragile 10 syndrome|FraX syndrome|fragile X intellectual disability syndrome|mental retardation, X-linked, associated with Marxq28|fragile X mental retardation syndrome|Martin-Bell syndrome|marker 10 syndrome|fra(X) syndrome|intellectual disability, X-linked, associated with Marxq28|marker X syndrome|fragile 10 mental retardation syndrome|FXS ordo_malformation_syndrome MONDO:0010382 fragile X-associated tremor/ataxia syndrome biolink:Disease mondo DOID:0050879|Orphanet:93256|NCIT:C126566|MESH:C564105|OMIM:300623|UMLS:C1839780|ICD10:G11.2|SCTID:448045004 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. http://identifiers.org/omim/300623|UMLS:C3164069|DOID:0050879|MESH:C564105|UMLS:C1839780|SNOMEDCT:448045004|NCIT:C126566|ORPHA:93256 http://purl.obolibrary.org/obo/MONDO_0010382 FXTAS|fragile X tremor/ataxia syndrome; FXTAS|FXTAS syndrome|fragile X tremor/ataxia syndrome|fragile 10 tremor/ataxia syndrome ordo_malformation_syndrome MONDO:0022357 congenital acardia biolink:Disease mondo GARD:0009823|ICD9:759.89|SCTID:205834002 SNOMEDCT:205834002 http://purl.obolibrary.org/obo/MONDO_0022357 acardia|congenital absence of the heart gard_rare HGNC:11506 SYP biolink:OntologyClass mondo http://identifiers.org/hgnc/11506 MONDO:0009399 hyperphosphatemia, polyuria, and seizures biolink:Disease mondo MESH:C565494|OMIM:239350|UMLS:C1855922 MESH:C565494|http://identifiers.org/omim/239350|UMLS:C1855922 http://purl.obolibrary.org/obo/MONDO_0009399 hyperphosphatemia, polyuria, and seizures MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 biolink:Disease mondo OMIM:239300|UMLS:CN030519 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene. http://identifiers.org/omim/239300|UMLS:CN030519 http://purl.obolibrary.org/obo/MONDO_0009398 glycosylphosphatidylinositol biosynthesis defect 2|hyperphosphatasia with mental retardation syndrome 1|hyperphosphatasia with mental retardation syndrome 1; HPMRS1|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV|PIGV hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 1; HPMRS1|Mabry syndrome|hyperphosphatasia with intellectual disability syndrome 1|hyperphosphatasia with intellectual disability syndrome type 1|hyperphosphatasia with mental retardation syndrome type 1|HPMRS1 MONDO:0009397 neonatal severe primary hyperparathyroidism biolink:Disease mondo Orphanet:417|UMLS:C1832615|SCTID:715218009|NCIT:C131853|ICD10:E21.0|GARD:0002838|OMIM:239200|MESH:C563375 3.5 mM) from birth and associated with major hyperparathyroidism. MESH:C563375|NCIT:C131853|SNOMEDCT:715218009|UMLS:C1832615|ORPHA:417|http://identifiers.org/omim/239200 http://purl.obolibrary.org/obo/MONDO_0009397 NSHPT|Nsph|hyperparathyroidism, neonatal severe primary|hyperparathyroidism, neonatal severe; NSHPT|neonatal severe hyperparathyroidism|hyperparathyroidism, neonatal severe ordo_disease HGNC:11509 SYT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11509 MONDO:0010374 retinitis pigmentosa 34 biolink:Disease mondo UMLS:C1845104|GARD:0010390|ICD10:H35.5|OMIM:300605|DOID:0110417|MESH:C564475 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28. http://identifiers.org/omim/300605|UMLS:C1845104|DOID:0110417|MESH:C564475 http://purl.obolibrary.org/obo/MONDO_0010374 retinitis pigmentosa 34|RP 34|retinitis pigmentosa type 34|RP34|retinitis pigmentosa 34; RP34 gard_rare MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria biolink:Disease mondo MESH:C565496|OMIM:239199|UMLS:C1855924 UMLS:C1855924|http://identifiers.org/omim/239199|MESH:C565496 http://purl.obolibrary.org/obo/MONDO_0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria MONDO:0009395 hyperostosis corticalis generalisata biolink:Disease mondo NCIT:C131812|GARD:0002833|ICD10:M85.2|SCTID:59763006|OMIM:239100|Orphanet:3416|DOID:0080036 Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies. SNOMEDCT:59763006|NCIT:C131812|ORPHA:3416|DOID:0080036|http://identifiers.org/omim/239100 http://purl.obolibrary.org/obo/MONDO_0009395 Van Buchem disease|VBCH|endosteal hyperostosis autosomal recessive|VAN Buchem disease; VBCH|hyperphosphatasemia tarda|endosteal hyperostosis|van Buchem disease|SOST-related sclerosing bone dysplasia|hyperostosis corticalis generalisata|endosteal hyperostosis, autosomal recessive|van Buchem disease type 1 ordo_malformation_syndrome MONDO:0010373 premature ovarian failure 2B biolink:Disease mondo OMIM:300604|MESH:C564476|UMLS:C1845105 Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene. http://identifiers.org/omim/300604|UMLS:C1845105|MESH:C564476 http://purl.obolibrary.org/obo/MONDO_0010373 POF2B|premature ovarian failure 2B; POF2B|premature ovarian failure type 2B|POF1B primary ovarian failure|premature ovarian failure 2B|primary ovarian failure caused by mutation in POF1B HGNC:11510 SYT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11510 MONDO:0009394 juvenile Paget disease biolink:Disease mondo ICD10:M88.0|NCIT:C131861|SCTID:9723006|ICD10:M88.9|Orphanet:2801|ICD10:M88.8|GARD:0002831|OMIM:239000|MESH:C537701 Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss. NCIT:C131861|SNOMEDCT:9723006|http://identifiers.org/omim/239000|ORPHA:2801|MESH:C537701 http://purl.obolibrary.org/obo/MONDO_0009394 hyperphosphatasia, familial idiopathic|Paget disease of bone 5, juvenile-onset|PDB5|JPD|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|JPG|Paget disease juvenile type|Paget disease of bone 5, juvenile-onset; PDB5|juvenile Paget's disease|hyperostosid corticalis deformans juvenilis|juvenile Pagets disease|juvenile Paget disease|familial hyperphosphatasia|familial osteoectasia|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia ordo_malformation_syndrome|gard_rare MONDO:0010376 obsolete Brooks-Wisniewski-brown syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010376 MONDO:0010375 developmental and epileptic encephalopathy, 8 biolink:Disease mondo OMIM:300607|DOID:0080215|Orphanet:163985|UMLS:C1845102|ICD10:G25.8|MESH:C564474 UMLS:C1845102|http://identifiers.org/omim/300607|DOID:0080215|MESH:C564474|ORPHA:163985 http://purl.obolibrary.org/obo/MONDO_0010375 hyperekplexia and epilepsy|epileptic encephalopathy, early infantile, 8; EIEE8|epileptic encephalopathy, early infantile, type 8|hyperekplexia-epilepsy syndrome|epileptic encephalopathy, early infantile, 8|DEE8|early infantile epileptic encephalopathy 8|EIEE8 ordo_disease MONDO:0009393 ornithine translocase deficiency biolink:Disease mondo Orphanet:415|GARD:0002830|SCTID:30287008|ICD10:E72.4|UMLS:C0268540|OMIM:238970|NCIT:C129029|MESH:C538380|DOID:0050720 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction. http://identifiers.org/omim/238970|UMLS:C0268540|MESH:C538380|NCIT:C129029|ORPHA:415|DOID:0050720|SNOMEDCT:30287008 http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency syndrome|ornithine translocase deficiency|hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|triple H syndrome|HHH syndrome|HHHS|Hhh syndrome|HHH|hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome|ornithine carrier deficiency|ORNT1 deficiency ordo_disease MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with deafness biolink:Disease mondo MESH:C564472|SCTID:719838008|Orphanet:139583|ICD10:G60.8|UMLS:C1845095|UMLS:C4304400|GARD:0012731|OMIM:300614 This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. ORPHA:139583|SNOMEDCT:719838008|http://identifiers.org/omim/300614|UMLS:C1845095|UMLS:C4304400|MESH:C564472 http://purl.obolibrary.org/obo/MONDO_0010378 X-linked auditory neuropathy with peripheral sensory neuropathy type 1|DFNX5|X-linked HSAN with deafness|deafness, X-linked 5|auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy|deafness, X-linked 5; DFNX5 gard_rare|ordo_disease MONDO:0009392 hyperopia, high biolink:Disease mondo OMIM:238950|MESH:C565497 http://identifiers.org/omim/238950|MESH:C565497 http://purl.obolibrary.org/obo/MONDO_0009392 hyperopia, high HGNC:11515 TBXT biolink:OntologyClass mondo http://identifiers.org/hgnc/11515 MONDO:0009391 hypermetabolism due to defect in mitochondria biolink:Disease mondo UMLS:C1855926|OMIM:238800|MESH:C565498 http://identifiers.org/omim/238800|MESH:C565498|UMLS:C1855926 http://purl.obolibrary.org/obo/MONDO_0009391 hypermetabolism due to defect in mitochondria MONDO:0010377 MYP13 biolink:Disease mondo OMIM:300613|UMLS:C1845096|MESH:C564473 UMLS:C1845096|http://identifiers.org/omim/300613|MESH:C564473 http://purl.obolibrary.org/obo/MONDO_0010377 MYP13|myopia 13, X-linked|myopia 13, X-linked; MYP13 MONDO:0009390 hyperlysinuria with hyperammonemia biolink:Disease mondo UMLS:C0268555|ICD9:270.7|SCTID:342553006|OMIM:238750 http://identifiers.org/omim/238750|SNOMEDCT:342553006|UMLS:C0268555 http://purl.obolibrary.org/obo/MONDO_0009390 hyperlysinemia, periodic|hyperlysinuria with hyperammonemia MONDO:0010379 Brunner syndrome biolink:Disease mondo ICD10:E70.8|DOID:0060693|UMLS:C0796275|GARD:0003531|MESH:C563156|Orphanet:3057|SCTID:718210003|OMIM:300615 Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. MESH:C563156|DOID:0060693|ORPHA:3057|SNOMEDCT:718210003|UMLS:C0796275|http://identifiers.org/omim/300615 http://purl.obolibrary.org/obo/MONDO_0010379 Brunner syndrome; BRNRS|monoamine oxidase A deficiency|Brunner syndrome|antisocial behavior, susceptibility to|BRNRS ordo_disease MONDO:0022349 congenital absence of septum pellucidum biolink:Disease mondo MESH:C535562|ICD9:742.4|GARD:0009253|SCTID:253143001 The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made. MESH:C535562|SNOMEDCT:253143001 http://purl.obolibrary.org/obo/MONDO_0022349 absence of septum pellucidum gard_rare GO:0090594 inflammatory response to wounding biolink:OntologyClass mondo The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents. http://purl.obolibrary.org/obo/GO_0090594 MONDO:0010370 Cornelia de Lange syndrome 2 biolink:Disease mondo NCIT:C75485|UMLS:C1802395|OMIM:300590 An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation. http://identifiers.org/omim/300590|UMLS:C1802395|NCIT:C75485 http://purl.obolibrary.org/obo/MONDO_0010370 Cdls, X-linked|SMC1A Cornelia de Lange syndrome|Cornelia de Lange syndrome caused by mutation in SMC1A|Cornelia De Lange syndrome type 2|Cornelia DE Lange syndrome 2; CDLS2|Cornelia De Lange syndrome, X-linked|Cornelia de Lange syndrome 2|CDLS2|X-linked Cornelia De Lange syndrome MONDO:0010372 Clark-Baraitser syndrome biolink:Disease mondo UMLS:C2931130|GARD:0009994|OMIM:300602|MESH:C536208 http://identifiers.org/omim/300602|MESH:C536208|UMLS:C2931130 http://purl.obolibrary.org/obo/MONDO_0010372 mental retardation, tall stature, obesity, macrocephaly and typical facial features|intellectual disability, tall stature, obesity, macrocephaly and typical facial features|Clark-Baraitser syndrome|Baraitser syndrome gard_rare GO:0090596 sensory organ morphogenesis biolink:OntologyClass mondo Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/GO_0090596 MONDO:0010371 Aland island eye disease biolink:Disease mondo MESH:C562664|SCTID:266455006|Orphanet:178333|DOID:0050630|ICD10:H35.5|GARD:0010574|UMLS:C0268505|OMIM:300600 Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. MESH:C562664|UMLS:C0268505|http://identifiers.org/omim/300600|ORPHA:178333|DOID:0050630|SNOMEDCT:266455006 http://purl.obolibrary.org/obo/MONDO_0010371 Aland island eye disease|FORSIUS-Eriksson type ocular albinism|AIED|Åland Islands eye disease|ALAND ISLAND eye disease; AIED|AIED|Forsius-Eriksson syndrome|Forsius Eriksson type ocular albinism|Forsius-Eriksson type ocular albinism ordo_disease MONDO:0000953 cancer of short bone of lower limb biolink:Disease mondo UMLS:C0153518|ICD10:C40.3|ICD9:170.8|DOID:10151|SCTID:712525007 DOID:10151|UMLS:C0153518|SNOMEDCT:712525007 http://purl.obolibrary.org/obo/MONDO_0000953 malignant neoplasm of short bones of leg|malignant neoplasm of short bone of lower limb MONDO:0000952 cancer of long bone of lower limb biolink:Disease mondo SCTID:449627008|ICD10:C40.2|DOID:10149|ICD9:170.7|UMLS:C3265932 A cancer that involves the hindlimb long bone. DOID:10149|SNOMEDCT:449627008|UMLS:C3265932 http://purl.obolibrary.org/obo/MONDO_0000952 malignant neoplasm of long bones of leg|long bones of lower limb cancer|hindlimb long bone cancer|cancer of hindlimb long bone|malignant hindlimb long bone neoplasm|malignant neoplasm of hindlimb long bone MONDO:0000951 thymus lymphoma biolink:Disease mondo NCIT:C6451|UMLS:C1336745|EFO:1000054|DOID:10146 A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. UMLS:C1336745|NCIT:C6451|DOID:10146 http://purl.obolibrary.org/obo/MONDO_0000951 lymphoma of the Thymus|Thymus lymphoma|primary thymic lymphoma|lymphoma of thymus|thymic lymphoma|lymphoma of Thymus|thymus lymphoma MONDO:0000950 asthenopia biolink:Disease mondo DOID:10141|UMLS:C0004095|ICD10:H53.14|MESH:D001248 Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches. MESH:D001248|UMLS:C0004095|DOID:10141 http://purl.obolibrary.org/obo/MONDO_0000950 accommodative strain MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 biolink:Disease mondo OMIM:612558 http://identifiers.org/omim/612558 http://purl.obolibrary.org/obo/MONDO_0012935 Clls4|leukemia, chronic lymphocytic, susceptibility to, type 4|leukemia, chronic lymphocytic, susceptibility to, 4 predisposition MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 biolink:Disease mondo OMIM:612559 http://identifiers.org/omim/612559 http://purl.obolibrary.org/obo/MONDO_0012936 Clls5|leukemia, chronic lymphocytic, susceptibility to, type 5|leukemia, chronic lymphocytic, susceptibility to, 5 predisposition MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 biolink:Disease mondo OMIM:612555 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene. http://identifiers.org/omim/612555 http://purl.obolibrary.org/obo/MONDO_0012933 susceptibility to familial breast-ovarian cancer 2|breast-ovarian cancer, familial, susceptibility to, 2; BROVCA2|breast-ovarian cancer, familial, susceptibility to, type 2|BROVCA2|BRCA2 hereditary breast ovarian cancer syndrome|breast cancer, familial, susceptibility to, 2|hereditary breast ovarian cancer syndrome caused by mutation in BRCA2|breast-ovarian cancer, familial, susceptibility to, 2|ovarian cancer, familial, susceptibility to, 2 predisposition MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 biolink:Disease mondo OMIM:612557 http://identifiers.org/omim/612557 http://purl.obolibrary.org/obo/MONDO_0012934 Clls3|leukemia, chronic lymphocytic, susceptibility to, type 3|leukemia, chronic lymphocytic, susceptibility to, 3 predisposition MONDO:0012939 Diamond-Blackfan anemia 8 biolink:Disease mondo OMIM:612563|UMLS:C2675511|MESH:C567253 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene. MESH:C567253|http://identifiers.org/omim/612563|UMLS:C2675511 http://purl.obolibrary.org/obo/MONDO_0012939 Diamond-Blackfan anemia 8; DBA8|Diamond-Blackfan anemia caused by mutation in RPS7|DBA8|Diamond-Blackfan Anemia type 8|Diamond-Blackfan anemia 8|RPS7 Diamond-Blackfan anemia MONDO:0012937 Diamond-Blackfan anemia 6 biolink:Disease mondo OMIM:612561 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene. http://identifiers.org/omim/612561 http://purl.obolibrary.org/obo/MONDO_0012937 Diamond-Blackfan anemia 6; DBA6|Aase-Smith syndrome 2|DBA6|Diamond-Blackfan Anemia type 6|RPL5 Diamond-Blackfan anemia|Diamond-Blackfan anemia 6|Diamond-Blackfan anemia caused by mutation in RPL5 MONDO:0012938 Diamond-Blackfan anemia 7 biolink:Disease mondo OMIM:612562|MESH:C567254|UMLS:C2675512 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene. MESH:C567254|http://identifiers.org/omim/612562|UMLS:C2675512 http://purl.obolibrary.org/obo/MONDO_0012938 Diamond-Blackfan anemia 7; DBA7|RPL11 Diamond-Blackfan anemia|DBA7|Diamond-Blackfan anemia caused by mutation in RPL11|Diamond-Blackfan Anemia type 7|Diamond-Blackfan anemia 7 HGNC:4452 GPC4 biolink:OntologyClass mondo http://identifiers.org/hgnc/4452 HGNC:4451 GPC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4451 MONDO:0012942 LNCR3 biolink:Disease mondo UMLS:C2675497|OMIM:612571 http://identifiers.org/omim/612571|UMLS:C2675497 http://purl.obolibrary.org/obo/MONDO_0012942 LNCR3|lung cancer susceptibility 3|adenocarcinoma of lung, susceptibility to|lung cancer susceptibility 3; LNCR3 MONDO:0012943 retinitis pigmentosa 46 biolink:Disease mondo ICD10:H35.5|OMIM:612572|DOID:0110409|MESH:C567249|UMLS:C2675496 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene. MESH:C567249|http://identifiers.org/omim/612572|UMLS:C2675496|DOID:0110409 http://purl.obolibrary.org/obo/MONDO_0012943 retinitis pigmentosa type 46|RP46|retinitis pigmentosa 46|IDH3B retinitis pigmentosa|retinitis pigmentosa 46; RP46|retinitis pigmentosa, autosomal recessive, Idh3B-related|retinitis pigmentosa caused by mutation in IDH3B MONDO:0012940 inflammatory bowel disease 24 biolink:Disease mondo DOID:0110908|UMLS:C2675509|OMIM:612566|MESH:C567252 An inflammatory bowel disease that has material basis in variation in the chromosome 20q13. MESH:C567252|http://identifiers.org/omim/612566|UMLS:C2675509|DOID:0110908 http://purl.obolibrary.org/obo/MONDO_0012940 inflammatory bowel disease 24; IBD24|inflammatory bowel disease type 24|inflammatory bowel disease 24|IBD24 MONDO:0012941 inflammatory bowel disease 25 biolink:Disease mondo DOID:0110909|MESH:C567251|UMLS:C2675508|OMIM:612567 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene. MESH:C567251|http://identifiers.org/omim/612567|UMLS:C2675508|DOID:0110909 http://purl.obolibrary.org/obo/MONDO_0012941 inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease 25, autosomal recessive|IL10RB inflammatory bowel disease|early onset autosomal recessive inflammatory bowel disease 25|inflammatory bowel disease type 25|IBD25|inflammatory bowel disease caused by mutation in IL10RB|inflammatory bowel disease 25, autosomal recessive; IBD25 MONDO:0000946 psychologic vaginismus biolink:Disease mondo ICD9:306.51|DOID:10131|ICD10:F52.5|SCTID:71787009 Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. SNOMEDCT:71787009|DOID:10131|NCIT:C35113 http://purl.obolibrary.org/obo/MONDO_0000946 functional vaginismus|non-organic vaginismus|psychogenic vaginismus MONDO:0024913 cattle disease biolink:Disease mondo MESH:D002418|UMLS:C0007453 Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. MESH:D002418|UMLS:C0007453 http://purl.obolibrary.org/obo/MONDO_0024913 cattle disease|disease, cattle|disease, bovine|bovine disease|diseases, cattle|diseases, bovine|bovine diseases MONDO:0000945 venous insufficiency (disease) biolink:Disease mondo ICD9:459.81|COHD:321596|UMLS:C0042485|MESH:D014689|HP:0005293|DOID:10128|SCTID:20696009 Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle. DOID:10128|SNOMEDCT:20696009|MESH:D014689|UMLS:C0042485 http://purl.obolibrary.org/obo/MONDO_0000945 peripheral venous insufficiency|venous insufficiency MONDO:0024912 cat disease biolink:Disease mondo MESH:D002371|UMLS:C0007350 Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used. MESH:D002371|UMLS:C0007350 http://purl.obolibrary.org/obo/MONDO_0024912 Feline disease|diseases, Feline|diseases, Cat|cat disease|disease, Cat|Feline diseases|disease, Feline MONDO:0000944 cerebral artery occlusion biolink:Disease mondo ICD9:434.90|COHD:372924|ICD9:434|ICD9:434.91|SCTID:20059004|ICD9:434.9|DOID:10127 DOID:10127|SNOMEDCT:20059004 http://purl.obolibrary.org/obo/MONDO_0000944 HGNC:4458 GPI biolink:OntologyClass mondo http://identifiers.org/hgnc/4458 MONDO:0000943 acute hydrops keratoconus biolink:Disease mondo DOID:10125|UMLS:C0339286|SCTID:111523009|ICD9:371.62 DOID:10125|SNOMEDCT:111523009|UMLS:C0339286 http://purl.obolibrary.org/obo/MONDO_0000943 acute corneal hydrops|keratoconus, acute hydrops|acute hydrops of cornea HGNC:4456 GPD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4456 MONDO:0000949 conjunctival degeneration biolink:Disease mondo DOID:10139|COHD:381580|ICD9:372.50|ICD10:H11.10|SCTID:40787005|UMLS:C0155160 UMLS:C0155160|SNOMEDCT:40787005|DOID:10139 http://purl.obolibrary.org/obo/MONDO_0000949 HGNC:4455 GPD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4455 MONDO:0000948 xerophthalmia biolink:Disease mondo DOID:10138|NCIT:C34503|ICD10:E50.7|MESH:D014985|COHD:373204|ICD10:H04.12|SCTID:363677007|UMLS:C0043349|UMLS:C3665609|ICD9:375.15 Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma. DOID:10138|SNOMEDCT:363677007|UMLS:C0043349|UMLS:C3665609|MESH:D014985|NCIT:C34503 http://purl.obolibrary.org/obo/MONDO_0000948 conjunctival xerosis MONDO:0024919 dog disease biolink:Disease mondo UMLS:C0012979|MESH:D004283 Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used. UMLS:C0012979|MESH:D004283 http://purl.obolibrary.org/obo/MONDO_0024919 diseases, Dog|disease, canine|dog disease|canine disease|disease, Dog|diseases, canine|canine diseases HGNC:4454 GPC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/4454 MONDO:0000947 psychosexual disorder biolink:Disease mondo SCTID:56627002|ICD9:302.79|COHD:436666|DOID:10132|ICD9:302.9|ICD9:302.89 DOID:10132|SNOMEDCT:56627002 http://purl.obolibrary.org/obo/MONDO_0000947 non-organic sexual dysfunction MONDO:0000960 diabetic peripheral angiopathy biolink:Disease mondo ICD9:250.7|MESH:D003925|EFO:1000896|SCTID:127014009|DOID:10182|UMLS:C0011875|UMLS:C0011871|ICD9:443.81|NCIT:C35610|DOID:11713 Diabetic angiopathy is a form of angiopathy associated with diabetic complications. MESH:D003925|NCIT:C35610|SNOMEDCT:127014009|UMLS:C0011875|UMLS:C0011871|DOID:10182|DOID:11713 http://purl.obolibrary.org/obo/MONDO_0000960 diabetic angiopathy|diabetic vascular disorder MONDO:0000964 skin lipoma biolink:Disease mondo ICD9:214.1|NCIT:C4616|DOID:10188|SCTID:255187008|ICD9:214.0 A benign or malignant adipose tissue neoplasm of the skin. NCIT:C4616|SNOMEDCT:255187008|DOID:10188 http://purl.obolibrary.org/obo/MONDO_0000964 lipoma of the skin|skin lipoma|cutaneous lipomatous tumor|cutaneous lipoma|zone of skin lipoma|lipoma of face|lipoma of skin|lipoma of zone of skin MONDO:0000963 esophageal lipoma biolink:Disease mondo DOID:10187|NCIT:C5701|UMLS:C1333455 A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections. UMLS:C1333455|DOID:10187|NCIT:C5701 http://purl.obolibrary.org/obo/MONDO_0000963 esophagus lipoma|esophageal lipoma|lipoma of esophagus|lipoma of the esophagus NCBITaxon:6843 Chelicerata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6843 chelicerates MONDO:0000962 spindle cell lipoma biolink:Disease mondo SCTID:404058008|UMLS:C0334474|ICDO:8857/0|DOID:10184|NCIT:C4254 A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity. UMLS:C0334474|SNOMEDCT:404058008|NCIT:C4254|DOID:10184 http://purl.obolibrary.org/obo/MONDO_0000962 spindle cell lipoma (morphologic abnormality)|spindle cell lipoma MONDO:0000961 endobronchial lipoma biolink:Disease mondo UMLS:C0852937|DOID:10183|NCIT:C5063 A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree. NCIT:C5063|DOID:10183|UMLS:C0852937 http://purl.obolibrary.org/obo/MONDO_0000961 endobronchial lipoma MONDO:0012924 Diamond-Blackfan anemia 4 biolink:Disease mondo OMIM:612527|MESH:C567281|UMLS:C2675860 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene. MESH:C567281|http://identifiers.org/omim/612527|UMLS:C2675860 http://purl.obolibrary.org/obo/MONDO_0012924 Diamond-Blackfan anemia 4; DBA4|Diamond-Blackfan Anemia type 4|RPS17 Diamond-Blackfan anemia|Diamond-Blackfan anemia 4|Diamond-Blackfan anemia caused by mutation in RPS17|DBA4 MONDO:0012925 Diamond-Blackfan anemia 5 biolink:Disease mondo UMLS:C2675859|OMIM:612528|MESH:C567280 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene. MESH:C567280|http://identifiers.org/omim/612528|UMLS:C2675859 http://purl.obolibrary.org/obo/MONDO_0012925 Diamond-Blackfan anemia 5; DBA5|RPL35A Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPL35A|Diamond-Blackfan Anemia type 5|Diamond-Blackfan anemia 5|DBA5 MONDO:0036915 benign ovarian mucinous tumor biolink:Disease mondo NCIT:C40039|EFO:1000115|UMLS:C1511100 A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma. NCIT:C40039|UMLS:C1511100 http://purl.obolibrary.org/obo/MONDO_0036915 benign ovarian mucinous tumor|ovarian mucinous neoplasm, benign|benign ovarian mucinous neoplasm MONDO:0012922 infantile hypertrophic pyloric stenosis type 5 biolink:Disease mondo MESH:C567283|UMLS:C2675862|OMIM:612525 MESH:C567283|http://identifiers.org/omim/612525|UMLS:C2675862 http://purl.obolibrary.org/obo/MONDO_0012922 pyloric stenosis, infantile hypertrophic, 5|pyloric stenosis, infantile hypertrophic, 5; IHPS5|IHPS5 MONDO:0012923 congenital generalized lipodystrophy type 3 biolink:Disease mondo DOID:0111137|ICD10:E88.1|MESH:C567282|UMLS:C2675861|OMIM:612526|GARD:0013389 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene. MESH:C567282|http://identifiers.org/omim/612526|DOID:0111137|UMLS:C2675861 http://purl.obolibrary.org/obo/MONDO_0012923 CAV1 congenital generalized lipodystrophy (disease)|type 3 Berardinelli-Seip congenital lipodystrophy|lipodystrophy, congenital generalized, type 3; CGL3|lipodystrophy, Berardinelli-Seip congenital, type 3|BSCL3|Berardinelli-Seip congenital lipodystrophy, type 3|Berardinelli-Seip congenital lipodystrophy type 3|CGL3|lipodystrophy, congenital generalized, type 3|congenital generalized lipodystrophy (disease) caused by mutation in CAV1 gard_rare MONDO:0012928 hereditary spastic paraplegia 42 biolink:Disease mondo ICD10:G11.4|UMLS:C2675528|SCTID:763070001|DOID:0110794|MESH:C567262|OMIM:612539|Orphanet:171863 Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. DOID:0110794|SNOMEDCT:763070001|ORPHA:171863|MESH:C567262|http://identifiers.org/omim/612539|UMLS:C2675528 http://purl.obolibrary.org/obo/MONDO_0012928 autosomal dominant spastic paraplegia 42|autosomal dominant spastic paraplegia type 42|spastic paraplegia 42, autosomal dominant|SPG42|spastic paraplegia 42, autosomal dominant; SPG42|SLC33A1 autosomal dominant pure spastic paraplegia|autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1|hereditary spastic paraplegia type 42 ordo_disease MONDO:0012929 Compton-North congenital myopathy biolink:Disease mondo ICD10:G71.2|MESH:C567261|Orphanet:210163|OMIM:612540|UMLS:C2675527|DOID:0080101 ORPHA:210163|MESH:C567261|DOID:0080101|http://identifiers.org/omim/612540|UMLS:C2675527 http://purl.obolibrary.org/obo/MONDO_0012929 congenital lethal myopathy, Compton-North type|myopathy, congenital, Compton-NORTH; MYPCN|myopathy, congenital, Compton-NORTH|MYPCN ordo_disease MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation biolink:Disease mondo Orphanet:99710 ORPHA:99710 http://purl.obolibrary.org/obo/MONDO_0036918 ordo_disease MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 biolink:Disease mondo MESH:C567279|ICD10:K00.5|OMIM:612529|UMLS:C2675858|DOID:0110060 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene. UMLS:C2675858|MESH:C567279|http://identifiers.org/omim/612529|DOID:0110060 http://purl.obolibrary.org/obo/MONDO_0012926 AI2A2|amelogenesis imperfecta pigmented hypomaturation type 2|MMP20 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in MMP20|amelogenesis imperfecta, hypomaturation type, IIA2|amelogenesis imperfecta, pigmented hypomaturation type, 2|amelogenesis imperfecta, hypomaturation type, IIA2; AI2A2|amelogenesis imperfecta hypomaturation type IIA2|amelogenesis imperfecta type IIA2 MONDO:0012927 chromosome 1q41-q42 deletion syndrome biolink:Disease mondo ICD10:Q93.5|OMIM:612530|Orphanet:250999|GARD:0003738|SCTID:716515000|UMLS:C4274528|UMLS:C2675857|DOID:0060412 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. UMLS:C2675857|DOID:0060412|ORPHA:250999|UMLS:C4274528|http://identifiers.org/omim/612530|SNOMEDCT:716515000 http://purl.obolibrary.org/obo/MONDO_0012927 holoprosencephaly 10|chromosome 1q41-q42 deletion syndrome|1q41q42 microdeletion syndrome|Del(1)(q41q42)|monosomy 1q41-q42|1q41-q42 deletion syndrome|deletion 1q41-q42|1q41-q42 microdeletion syndrome|monosomy 1q41q42 gard_rare|ordo_malformation_syndrome MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to biolink:Disease mondo OMIM:612551 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene. http://identifiers.org/omim/612551 http://purl.obolibrary.org/obo/MONDO_0012931 focal segmental glomerulosclerosis caused by mutation in APOL1|focal segmental glomerulosclerosis 4, susceptibility to|focal segmental glomerulosclerosis 4, susceptibility to; FSGS4|APOL1 focal segmental glomerulosclerosis|FSGS4|end-stage renal disease, nondiabetic, susceptibility to|susceptibility to focal segmental glomerulosclerosis 4 predisposition MONDO:0012932 MYP16 biolink:Disease mondo MESH:C567259|OMIM:612554|UMLS:C2675523 MESH:C567259|http://identifiers.org/omim/612554|UMLS:C2675523 http://purl.obolibrary.org/obo/MONDO_0012932 myopia 16, autosomal dominant|myopia 16, autosomal dominant; MYP16|MYP16 MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency biolink:Disease mondo Orphanet:331176|UMLS:C2675526|OMIM:612541|ICD10:D70 http://identifiers.org/omim/612541|UMLS:C2675526|ORPHA:331176 http://purl.obolibrary.org/obo/MONDO_0012930 pulmonary arterial hypertension, leukopenia, and atrial septal defect|severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome|SCN4|severe congenital neutropenia type 4|Dursun syndrome|neutropenia, severe congenital, 4, autosomal recessive; SCN4|neutropenia, severe congenital, 4, autosomal recessive ordo_disease MONDO:0000957 lacrimal passage granuloma biolink:Disease mondo DOID:10174|SCTID:417563003|ICD10:H04.81|UMLS:C0155253|ICD9:375.81 DOID:10174|SNOMEDCT:417563003|UMLS:C0155253 http://purl.obolibrary.org/obo/MONDO_0000957 granuloma of lacrimal passages MONDO:0000956 small intestine cancer biolink:Disease mondo ICD10:C17.9|DOID:10154|ICD9:152.9|GARD:0009385|NCIT:C7523|ICD10:C17|UMLS:C0153425 A primary or metastatic malignant neoplasm involving the small intestine. DOID:10154|UMLS:C0153425|NCIT:C7523 http://purl.obolibrary.org/obo/MONDO_0000956 malignant tumor of small bowel|malignant neoplasm of the small intestine|malignant small bowel neoplasm|malignant small intestine tumor|malignant small intestine neoplasm|small intestine cancer|malignant tumor of the small intestine|malignant tumor of small intestine|malignant neoplasm of the small bowel|malignant neoplasms of the small intestine|small bowel tumors|malignant neoplasm of small bowel|malignant small bowel tumor|cancer of small intestine|malignant small intestinal neoplasm|malignant tumor of the small bowel|malignant neoplasm of small intestine gard_rare MONDO:0000955 ileum cancer biolink:Disease mondo DOID:10153|ICD10:C17.2|ICD9:152.2 A malignant neoplasm involving the ileum DOID:10153 http://purl.obolibrary.org/obo/MONDO_0000955 cancer of ileum|ileum cancer|malignant ileum neoplasm|ileal neoplasm|malignant neoplasm of ileum MONDO:0000954 Meckel diverticulum cancer biolink:Disease mondo UMLS:C0153429|DOID:10152|ICD9:152.3|SCTID:187752007 A cancer involving a Meckel's diverticulum. DOID:10152|UMLS:C0153429|SNOMEDCT:187752007 http://purl.obolibrary.org/obo/MONDO_0000954 malignant neoplasm of Meckel's diverticulum|Meckel's diverticulum cancer|malignant Meckel's diverticulum neoplasm|Meckel diverticulum cancer|cancer of Meckel's diverticulum MONDO:0024905 bird disease biolink:Disease mondo MESH:D001715|UMLS:C0005591 Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc. UMLS:C0005591|MESH:D001715 http://purl.obolibrary.org/obo/MONDO_0024905 disease, Avian|Avian disease|bird disease|disease, Bird|diseases, Avian|Avian diseases|diseases, Bird MONDO:0000959 malignant hypertensive renal disease biolink:Disease mondo DOID:10177|SCTID:65443008|ICD9:403.00|COHD:442766|UMLS:C0155593 UMLS:C0155593|SNOMEDCT:65443008|DOID:10177 http://purl.obolibrary.org/obo/MONDO_0000959 MONDO:0000958 neuroretinitis biolink:Disease mondo DOID:10176|ICD9:363.05|ICD10:H30.9|UMLS:C0154874|COHD:432630 Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina. DOID:10176|UMLS:C0154874 http://purl.obolibrary.org/obo/MONDO_0000958 focal retinitis and retinochoroiditis, juxtapapillary|Juxtapapillary focal retinitis and retinochoroiditis|papilloretinitis MONDO:0012919 type 1 diabetes mellitus 20 biolink:Disease mondo ICD10:E10|DOID:0110757|UMLS:C2675866|MESH:C567286|OMIM:612520 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene. UMLS:C2675866|DOID:0110757|MESH:C567286|http://identifiers.org/omim/612520 http://purl.obolibrary.org/obo/MONDO_0012919 insulin-dependent diabetes mellitus 20|type 1 diabetes mellitus caused by mutation in HNF1A|diabetes mellitus, insulin-dependent, 20|diabetes mellitus, insulin-dependent, 20; IDDM20|diabetes mellitus, insulin-dependent, type 20|IDDM20|HNF1A type 1 diabetes mellitus MONDO:0000931 endometrial disease biolink:Disease mondo SCTID:418632009|DOID:1005|NCIT:C3504 A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma. DOID:1005|NCIT:C3504|SNOMEDCT:418632009 http://purl.obolibrary.org/obo/MONDO_0000931 disorder of endometrium|endometrium disease|disorder of endometrium|endometrial disorder|disease or disorder of endometrium|disease of endometrium|endometrium disease or disorder MONDO:0000930 nodular malignant melanoma biolink:Disease mondo SCTID:254731001|DOID:10047|GARD:0009961|NCIT:C4225|UMLS:C0334424|EFO:0008515|ICDO:8721/3 An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance. DOID:10047|NCIT:C4225|UMLS:C0334424|SNOMEDCT:254731001 http://purl.obolibrary.org/obo/MONDO_0000930 nodular cutaneous (skin) melanoma|nodular malignant skin melanoma|nodular malignant melanoma of skin|nodular malignant melanoma of the skin|nodular melanoma|nodular melanoma (morphologic abnormality) MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome biolink:Disease mondo NCIT:C122804|UMLS:C2675904|MESH:C567292|OMIM:612469 A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. UMLS:C2675904|MESH:C567292|NCIT:C122804|http://identifiers.org/omim/612469 http://purl.obolibrary.org/obo/MONDO_0012913 WAGR syndrome with obesity|Wagro syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome|chromosome 11P13-p12 deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome; WAGRO|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome|WAGRO|Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome; WAGRO MONDO:0012914 chromosome 1q21.1 deletion syndrome biolink:Disease mondo ICD10:Q93.5|ICD9:758.33|Orphanet:250989|OMIM:612474|GARD:0010813|SCTID:699305004|DOID:0060411 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome. DOID:0060411|ORPHA:250989|SNOMEDCT:699305004|http://identifiers.org/omim/612474 http://purl.obolibrary.org/obo/MONDO_0012914 Del(1)(q21)|chromosome 1q21.1 deletion syndrome, 1.35-MB|1q21.1 microdeletion syndrome|monosomy 1q21.1|chromosome 1q21.1 microdeletion syndrome|1q21.1 microdeletion ordo_malformation_syndrome MONDO:0012911 pseudohypoparathyroidism type 1C biolink:Disease mondo ICD10:E20.1|GARD:0010681|MESH:C548076|Orphanet:79444|UMLS:C2932716|SCTID:717792007|OMIM:612462 Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). ORPHA:79444|UMLS:C2932716|SNOMEDCT:717792007|http://identifiers.org/omim/612462|MESH:C548076 http://purl.obolibrary.org/obo/MONDO_0012911 PHP1C|pseudohypoparathyroidism, type 1C|pseudohypoparathyroidism, type IC; PHP1C|Php 1C|pseudohypoparathyroidism, type IC ordo_disease|gard_rare MONDO:0012912 pseudopseudohypoparathyroidism biolink:Disease mondo SCTID:237659007|ICD10:E20.1|ICD9:275.49|OMIM:612463|Orphanet:665|Orphanet:79445|GARD:0007860|DOID:4183|MESH:D011556|UMLS:C0033835|NCIT:C129722 Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). ORPHA:79445|MESH:D011556|UMLS:C0033835|SNOMEDCT:237659007|http://identifiers.org/omim/612463|DOID:4183|NCIT:C129722|ORPHA:665 http://purl.obolibrary.org/obo/MONDO_0012912 Albright hereditary osteodystrophy-PPHP syndrome|pseudopseudohypoparathyroidism|PPHP|pseudopseudohypoparathyroidism; PPHP|Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]|Albright hereditary osteodystrophy without multiple hormone resistance|Pseudopseudo-hypoparathyroidism|aho-PPHP syndrome|Albright Hereditary osteodystrophy with Multiple hormone Resistance|pseudo-pseudohypoparathyroidism|Normocalcemic pseudohypoparathyroidism ordo_disease|gard_rare MONDO:0012917 specific language impairment 4 biolink:Disease mondo MESH:C567288|UMLS:C2675874|OMIM:612514 UMLS:C2675874|MESH:C567288|http://identifiers.org/omim/612514 http://purl.obolibrary.org/obo/MONDO_0012917 specific language impairment 4|specific language impairment 4; SLI4|SLI4 MONDO:0012918 primary ciliary dyskinesia 10 biolink:Disease mondo DOID:0110612|MESH:C567287|OMIM:612518|ICD10:Q34.8|UMLS:C2675867 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene. UMLS:C2675867|DOID:0110612|MESH:C567287|http://identifiers.org/omim/612518 http://purl.obolibrary.org/obo/MONDO_0012918 ciliary dyskinesia, primary, 10; CILD10|ciliary dyskinesia, primary, type 10|primary ciliary dyskinesia caused by mutation in DNAAF2|CILD10|ciliary dyskinesia, primary, 10|primary ciliary dyskinesia type 10|DNAAF2 primary ciliary dyskinesia|ciliary dyskinesia, primary, 10, with or without situs inversus|primary ciliary dyskinesia 10 with or without situs inversus MONDO:0012915 chromosome 1q21.1 duplication syndrome biolink:Disease mondo Orphanet:250994|GARD:0010591|OMIM:612475|UMLS:C2675891|MESH:C567290|DOID:0060435|ICD10:Q92.3 Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual. UMLS:C2675891|DOID:0060435|ORPHA:250994|MESH:C567290|http://identifiers.org/omim/612475 http://purl.obolibrary.org/obo/MONDO_0012915 chromosome 1q21.1 duplication syndrome|trisomy 1q21.1|dup(1)(q21.1)|1q21.1 microduplication syndrome ordo_malformation_syndrome|gard_rare MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome biolink:Disease mondo UMLS:C2675875|OMIM:612513|MESH:C567289|Orphanet:261349|SCTID:719651000|UMLS:C4304538|DOID:0060415|ICD10:Q93.5|GARD:0013391 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. UMLS:C4304538|UMLS:C2675875|DOID:0060415|SNOMEDCT:719651000|ORPHA:261349|MESH:C567289|http://identifiers.org/omim/612513 http://purl.obolibrary.org/obo/MONDO_0012916 2p15-p16.1 microdeletion syndrome|monosomy 2p15-p16.1|monosomy 2p15p16.1|Del(2)(p15p16.1)|chromosome 2p16.1-p15 deletion syndrome|2p15p16.1 microdeletion syndrome ordo_malformation_syndrome MONDO:0000929 balloon cell malignant melanoma biolink:Disease mondo SCTID:403922007|ICDO:8722/3|DOID:10044|UMLS:C0334426|NCIT:C4227 A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion. SNOMEDCT:403922007|DOID:10044|NCIT:C4227|UMLS:C0334426 http://purl.obolibrary.org/obo/MONDO_0000929 balloon cell cutaneous (skin) melanoma|balloon cell skin melanoma|balloon cell malignant skin melanoma|balloon cell malignant melanoma of skin|balloon cell malignant melanoma of the skin|balloon cell melanoma MONDO:0012920 type 1 diabetes mellitus 21 biolink:Disease mondo MESH:C567285|OMIM:612521|DOID:0110758|ICD10:E10|UMLS:C2675865 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25. DOID:0110758|MESH:C567285|http://identifiers.org/omim/612521|UMLS:C2675865 http://purl.obolibrary.org/obo/MONDO_0012920 IDDM21|insulin-dependent diabetes mellitus 21|diabetes mellitus, insulin-dependent, 21|diabetes mellitus, insulin-dependent, 21; IDDM21 MONDO:0012921 type 1 diabetes mellitus 22 biolink:Disease mondo UMLS:C2675864|MESH:C567284|OMIM:612522|DOID:0110759|ICD10:E10 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene. DOID:0110759|MESH:C567284|http://identifiers.org/omim/612522|UMLS:C2675864 http://purl.obolibrary.org/obo/MONDO_0012921 diabetes mellitus, insulin-dependent, type 22|CCR5 type 1 diabetes mellitus|type 1 diabetes mellitus caused by mutation in CCR5|insulin-dependent diabetes mellitus 22|diabetes mellitus, insulin-dependent, 22|diabetes mellitus, insulin-dependent, 22; IDDM22|IDDM22 MONDO:0000924 compensatory emphysema biolink:Disease mondo UMLS:C0155918|SCTID:33325001|DOID:10031|COHD:261895|ICD10:J98.3|ICD9:518.2 SNOMEDCT:33325001|UMLS:C0155918|DOID:10031 http://purl.obolibrary.org/obo/MONDO_0000924 MONDO:0000923 interstitial emphysema biolink:Disease mondo ICD9:518.1|UMLS:C1370824|NCIT:C34571|SCTID:77690003|DOID:10030|ICD10:J98.2 Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. DOID:10030|UMLS:C1370824|SNOMEDCT:77690003|NCIT:C34571 http://purl.obolibrary.org/obo/MONDO_0000923 pie|pulmonary interstitial emphysema|interstitial emphysema of lung MONDO:0000922 pelvic inflammatory disease biolink:Disease mondo NCIT:C3889|ICD9:614-616.99|SCTID:198130006|ICD9:614.9|ICD10:N70-N77|ICD9:614.8|EFO:1001388|MESH:D000292|ICD10:N73.9|DOID:1003|UMLS:C0242172 Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection. DOID:1003|SNOMEDCT:198130006|UMLS:C0242172|NCIT:C3889|MESH:D000292 http://purl.obolibrary.org/obo/MONDO_0000922 disease (PID), pelvic inflammatory|inflammatory disease (PID), pelvic|pelvic infection|PID|pelvic inflammatory disease|pelvic inflammatory disease, (PID)|PID, pelvic inflammatory disease MONDO:0000921 ampulla of vater neoplasm biolink:Disease mondo UMLS:C0345916|NCIT:C4443|SCTID:126858004|ONCOTREE:AMPULLAOFVATER|DOID:10022 A benign or malignant neoplasm involving the ampulla of Vater. DOID:10022|NCIT:C4443|SNOMEDCT:126858004|UMLS:C0345916 http://purl.obolibrary.org/obo/MONDO_0000921 tumor of hepatopancreatic ampulla|hepatopancreatic ampulla neoplasm|neoplasm of ampulla of Vater|ampulla of Vater tumor|neoplasm of the ampulla of Vater|AMPULLAOFVATER|tumor of the ampulla of Vater|hepatopancreatic ampulla neoplasm (disease)|neoplasm of hepatopancreatic ampulla|hepatopancreatic ampulla tumor|tumor of ampulla of Vater MONDO:0000928 eyelid melanoma biolink:Disease mondo UMLS:C0339116|NCIT:C4358|SCTID:231834005|ICD9:172.1|DOID:10040 A melanoma that arises from the upper or lower eyelid. UMLS:C0339116|SNOMEDCT:231834005|DOID:10040|NCIT:C4358 http://purl.obolibrary.org/obo/MONDO_0000928 malignant melanoma of eyelid|malignant melanoma of the eyelid|melanoma of eyelid|melanoma of the eyelid|melanoma (disease) of eyelid|eyelid melanoma (disease)|eyelid melanoma|malignant eyelid melanoma MONDO:0000927 asymptomatic neurosyphilis biolink:Disease mondo COHD:376335|ICD9:094.3|ICD10:A52.2|DOID:10035|SCTID:37754005|UMLS:C0153167 SNOMEDCT:37754005|DOID:10035|UMLS:C0153167 http://purl.obolibrary.org/obo/MONDO_0000927 MONDO:0000926 eye accommodation disease biolink:Disease mondo ICD10:H52.5|SCTID:54552008|DOID:10034|ICD9:367.5|UMLS:C0152198 Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies. DOID:10034|UMLS:C0152198|SNOMEDCT:54552008 http://purl.obolibrary.org/obo/MONDO_0000926 disorder of accommodation MONDO:0000925 hyperlucent lung biolink:Disease mondo UMLS:C0524799|MESH:D019568|DOID:10032 A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax. UMLS:C0524799|MESH:D019568|DOID:10032 http://purl.obolibrary.org/obo/MONDO_0000925 MONDO:0012908 complement component 6 deficiency biolink:Disease mondo ICD10:D84.1|DOID:0060299|OMIM:612446|UMLS:C2676232 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene. UMLS:C2676232|http://identifiers.org/omim/612446|DOID:0060299 http://purl.obolibrary.org/obo/MONDO_0012908 complement component 6 deficiency; C6D|complement component 6 deficiency, subtotal|C6 deficiency|C6D|complement component 6 deficiency|classic complement early component deficiency caused by mutation in C6|C6 deficiency, subtotal|C6 classic complement early component deficiency MONDO:0012909 skeletal defects, genital hypoplasia, and mental retardation biolink:Disease mondo MESH:C567306|OMIM:612447|UMLS:C2676231 MESH:C567306|UMLS:C2676231|http://identifiers.org/omim/612447 http://purl.obolibrary.org/obo/MONDO_0012909 skeletal defects, genital hypoplasia, and mental retardation|skeletal defects, genital hypoplasia, and intellectual disability MONDO:0000942 corneal disease biolink:Disease mondo ICD10:H18.9|DOID:10124|ICD9:371.89|MESH:D003316|SCTID:15250008|ICD9:371.9|ICD9:371.30|UMLS:C0010034|NCIT:C26731 A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. DOID:10124|NCIT:C26731|MESH:D003316|SNOMEDCT:15250008|UMLS:C0010034 http://purl.obolibrary.org/obo/MONDO_0000942 disorder of cornea|disease or disorder of cornea|disease of cornea|disorder of cornea|cornea disease|corneal disorder|corneal disease|cornea disease or disorder MONDO:0000941 eyelid degenerative disease biolink:Disease mondo ICD9:374.50|UMLS:C0155209|DOID:10120|SCTID:1112003 A neurodegenerative disease that involves the eyelid. DOID:10120|SNOMEDCT:1112003|UMLS:C0155209 http://purl.obolibrary.org/obo/MONDO_0000941 eyelid neurodegenerative disease|neurodegenerative disease of eyelid MONDO:0000940 trypanosomiasis biolink:Disease mondo DOID:10113|ICD10:B57.2|ICD9:086.9|ICD9:086|SCTID:78940002|MESH:D014352|UMLS:C0041227|ICD10:B56 Infection with protozoa of the genus trypanosoma. DOID:10113|MESH:D014352|UMLS:C0041227|SNOMEDCT:78940002 http://purl.obolibrary.org/obo/MONDO_0000940 Trypanosoma infectious disease|Trypanosoma caused disease or disorder|Trypanosoma disease or disorder|Trypanosomiases MONDO:0012902 autosomal dominant nonsyndromic deafness 27 biolink:Disease mondo OMIM:612431|DOID:0110556|ICD10:H90.3 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1. DOID:0110556|http://identifiers.org/omim/612431 http://purl.obolibrary.org/obo/MONDO_0012902 autosomal dominant nonsyndromic deafness type 27|DFNA27|autosomal dominant deafness 27|deafness, autosomal dominant 27; DFNA27|deafness, autosomal dominant 27 MONDO:0012903 autosomal recessive nonsyndromic deafness 45 biolink:Disease mondo DOID:0110502|ICD10:H90.3|OMIM:612433 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44. DOID:0110502|http://identifiers.org/omim/612433 http://purl.obolibrary.org/obo/MONDO_0012903 DFNB45|deafness, autosomal recessive 45; DFNB45|autosomal recessive nonsyndromic deafness type 45|deafness, autosomal recessive 45|autosomal recessive deafness 45 MONDO:0012900 cardiomyopathy, familial restrictive, 3 biolink:Disease mondo OMIM:612422|MESH:C567316|UMLS:C2676271 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. MESH:C567316|UMLS:C2676271|http://identifiers.org/omim/612422 http://purl.obolibrary.org/obo/MONDO_0012900 RCM3|cardiomyopathy, familial restrictive, 3; RCM3|familial isolated restrictive cardiomyopathy caused by mutation in TNNT2|TNNT2 familial isolated restrictive cardiomyopathy|cardiomyopathy, familial restrictive, type 3|cardiomyopathy, familial restrictive, 3 MONDO:0012901 inherited prekallikrein deficiency biolink:Disease mondo ICD10:D68.8|GARD:0004477|Orphanet:749|ICD9:286.9|MESH:C562725|OMIM:612423 An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome. ORPHA:749|MESH:C562725|http://identifiers.org/omim/612423 http://purl.obolibrary.org/obo/MONDO_0012901 hereditary prekallikrein deficiency|prekallikrein deficiency|congenital prekallikrein deficiency|prekallikrein deficiency, congenital|Fletcher Factor deficiency|PKK deficiency ordo_disease|gard_rare MONDO:0012906 primary ciliary dyskinesia 9 biolink:Disease mondo OMIM:612444|DOID:0110622|MESH:C567310|ICD10:Q34.8|UMLS:C2676235 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene. http://identifiers.org/omim/612444|DOID:0110622|MESH:C567310|UMLS:C2676235 http://purl.obolibrary.org/obo/MONDO_0012906 ciliary dyskinesia, primary, type 9|CILD9|ciliary dyskinesia, primary, 9|DNAI2 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in DNAI2|primary ciliary dyskinesia 9 with or without situs inversus|ciliary dyskinesia, primary, 9, with or without situs inversus|primary ciliary dyskinesia type 9|ciliary dyskinesia, primary, 9; CILD9 MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome biolink:Disease mondo SCTID:717920004|MESH:C567309|UMLS:C2676234|OMIM:612445|Orphanet:171844 This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. http://identifiers.org/omim/612445|SNOMEDCT:717920004|ORPHA:171844|MESH:C567309|UMLS:C2676234 http://purl.obolibrary.org/obo/MONDO_0012907 scoliosis, arachnodactyly, and blindness ordo_malformation_syndrome MONDO:0012904 epilepsy, progressive myoclonic, 1B biolink:Disease mondo SCTID:702326000|ICD9:345.10|MESH:C580388|UMLS:C2676254|OMIM:612437 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene. MESH:C580388|UMLS:C2676254|http://identifiers.org/omim/612437|SNOMEDCT:702326000 http://purl.obolibrary.org/obo/MONDO_0012904 epilepsy, progressive myoclonic, 1B; EPM1B|EPM1B|epilepsy, progressive myoclonic, type 1B|epilepsy, progressive myoclonic, 1B|PRICKLE1 progressive myoclonic epilepsy|progressive myoclonic epilepsy caused by mutation in PRICKLE1 MONDO:0012905 hypomyelinating leukodystrophy 6 biolink:Disease mondo MESH:C567314|OMIM:612438|Orphanet:139441|GARD:0010917|ICD10:E75.2|DOID:0060798|UMLS:C2676244 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. ORPHA:139441|DOID:0060798|MESH:C567314|UMLS:C2676244|http://identifiers.org/omim/612438 http://purl.obolibrary.org/obo/MONDO_0012905 HABC|hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum|leukodystrophy, hypomyelinating, 6; HLD6|leukodystrophy, hypomyelinating, 6|hypomyelination with atrophy of basal ganglia and cerebellum|leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|HLD6|leukodystrophy, hypomyelinating, type 6|H-ABC|hypomyelinating leukodystrophy type 6 ordo_disease MONDO:0012910 age-related hearing impairment 1 biolink:Disease mondo OMIM:612448|MESH:C567305|UMLS:C2676230 MESH:C567305|UMLS:C2676230|http://identifiers.org/omim/612448 http://purl.obolibrary.org/obo/MONDO_0012910 age-related hearing impairment 1|presbycusis 1|age-related hearing impairment 1; ARHI1|ARHI1 MONDO:0000935 larynx squamous papilloma biolink:Disease mondo NCIT:C7742|UMLS:C0240164|DOID:10071 A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare. NCIT:C7742|DOID:10071|UMLS:C0240164 http://purl.obolibrary.org/obo/MONDO_0000935 squamous papilloma of larynx|squamous papilloma of the larynx|larynx papilloma|papilloma of larynx|papilloma of the larynx|larynx squamous papilloma|laryngeal papilloma MONDO:0000934 laryngeal leiomyoma biolink:Disease mondo NCIT:C6027|UMLS:C1334370|DOID:10070 A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C6027|DOID:10070|UMLS:C1334370 http://purl.obolibrary.org/obo/MONDO_0000934 laryngeal leiomyoma|leiomyoma of larynx|leiomyoma of the larynx|larynx leiomyoma MONDO:0000933 subglottis neoplasm biolink:Disease mondo DOID:10069|SCTID:126696001|UMLS:C0345746|NCIT:C4426 A benign or malignant neoplasm that affects the subglottic area of the larynx. DOID:10069|SNOMEDCT:126696001|NCIT:C4426|UMLS:C0345746 http://purl.obolibrary.org/obo/MONDO_0000933 subglottis neoplasm (disease)|tumor of subglottis|subglottic neoplasm|subglottis neoplasm|neoplasm of the subglottis|neoplasm of subglottis|subglottic tumor|subglottis tumor|tumor of the subglottis MONDO:0000932 obsolete skin amelanotic melanoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000932 MONDO:0000939 intracranial abscess biolink:Disease mondo SCTID:27614006|ICD9:324.0|UMLS:C0021874|COHD:435509|DOID:10095|NCIT:C34734 An abscess that is located in the intracranial space. NCIT:C34734|SNOMEDCT:27614006|DOID:10095|UMLS:C0021874 http://purl.obolibrary.org/obo/MONDO_0000939 MONDO:0000938 gastric leiomyoma biolink:Disease mondo UMLS:C0238440|NCIT:C3876|DOID:10087|SCTID:276812001 A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT). SNOMEDCT:276812001|DOID:10087|NCIT:C3876|UMLS:C0238440 http://purl.obolibrary.org/obo/MONDO_0000938 gastric leiomyoma|leiomyoma of stomach|stomach leiomyoma|leiomyoma of the stomach MONDO:0000937 syphilitic encephalitis biolink:Disease mondo UMLS:C0153168|SCTID:26135000|ICD9:094.81|DOID:10081 An encephalitis caused by infection with Treponema. DOID:10081|UMLS:C0153168|SNOMEDCT:26135000 http://purl.obolibrary.org/obo/MONDO_0000937 Treponema caused encephalitis|Treponema encephalitis MONDO:0000936 syphilitic meningitis biolink:Disease mondo UMLS:C0153166|GARD:0008731|MESH:C536775|COHD:441228|DOID:10073|ICD9:094.2|SCTID:301086002 An infectious meningitis caused by infection with Treponema. SNOMEDCT:301086002|MESH:C536775|UMLS:C0153166|DOID:10073 http://purl.obolibrary.org/obo/MONDO_0000936 meningitis, syphilitic|Treponema infectious meningitis|syphilitic aseptic meningitis|meningeal syphilis|Treponema caused infectious meningitis MONDO:0000993 prostate squamous cell carcinoma biolink:Disease mondo NCIT:C5536|ONCOTREE:PRSC|UMLS:C1302530|SCTID:399590005|DOID:10287 An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation. UMLS:C1302530|SNOMEDCT:399590005|NCIT:C5536|DOID:10287 http://purl.obolibrary.org/obo/MONDO_0000993 squamous cell carcinoma of prostate|prostate gland squamous cell carcinoma|prostate squamous cell carcinoma|squamous cell carcinoma of the prostate|PRSC MONDO:0000992 heart conduction disease biolink:Disease mondo ICD9:426.6|SCTID:44808001|DOID:10273 A disease that has its basis in the disruption of the heart's electrical conduction system. DOID:10273|SNOMEDCT:44808001 http://purl.obolibrary.org/obo/MONDO_0000992 disease of cardiac conduction|conduction disease of heart|cardiac conduction disorder|cardiac conduction disease|heart rhythm disease|disorder of cardiac conduction MONDO:0000991 left bundle branch block biolink:Disease mondo SCTID:63467002|ICD9:426.2|SCTID:4973001|ICD10:I44.60|UMLS:C0155702|DOID:10272|COHD:313209 A bundle branch block in which the activation of the left ventricle is delayed. SNOMEDCT:63467002|UMLS:C0155702|DOID:10272|SNOMEDCT:4973001 http://purl.obolibrary.org/obo/MONDO_0000991 left bundle branch hemiblock|left bundle branch [block] or [hemiblock] MONDO:0000990 acute subendocardial myocardial infarction biolink:Disease mondo SCTID:70422006|ICD9:410.70|ICD9:410.72|ICD9:410.71|DOID:10266|UMLS:C0264710|ICD9:410.7 Acute form of subendocardial myocardial infarction. UMLS:C0264710|DOID:10266|SNOMEDCT:70422006 http://purl.obolibrary.org/obo/MONDO_0000990 subendocardial infarction acute myocardial infarction|acute subendocardial infarction|subendocardial myocardial infarction, acute|acute nontransmural infarction MONDO:0000997 monocular esotropia biolink:Disease mondo DOID:10293|ICD9:378.01|UMLS:C0152204|COHD:375285|SCTID:5455000|ICD10:H50.01 A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze. SNOMEDCT:5455000|DOID:10293|UMLS:C0152204 http://purl.obolibrary.org/obo/MONDO_0000997 MONDO:0000996 prostate lymphoma biolink:Disease mondo DOID:10290|UMLS:C1335512|NCIT:C5533 A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland. DOID:10290|NCIT:C5533|UMLS:C1335512 http://purl.obolibrary.org/obo/MONDO_0000996 primary prostate lymphoma|prostate lymphoma|lymphoma of prostate|lymphoma of the prostate|lymphoma of prostate gland|prostate gland lymphoma MONDO:0000995 familial periodic paralysis biolink:Disease mondo NCIT:C84709|MESH:D010245|GARD:0006422|ICD10:G72.3|SCTID:267607008|DOID:1029|Orphanet:371433 A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. MESH:D010245|DOID:1029|ORPHA:371433|SNOMEDCT:267607008|NCIT:C84709 http://purl.obolibrary.org/obo/MONDO_0000995 familial periodic paralyses|paralyses, normokalemic periodic|periodic paralysis, familial|genetic periodic paralysis|normokalemic periodic paralyses|periodic paralyses, normokalemic|paralysis, familial periodic|normokalemic periodic paralysis|hereditary periodic paralysis (disease)|familial periodic paralysis|periodic paralysis, normokalemic|periodic paralyses, familial|paralysis, normokalemic periodic ordo_group_of_disorders|gard_rare MONDO:0009329 pulmonary venoocclusive disease 2 biolink:Disease mondo OMIM:234810|SCTID:233949008|GARD:0008527|ICD10:D18.0|ICD9:416.8|UMLS:C0340548|MESH:C535861|Orphanet:199241 A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal. ORPHA:199241|MESH:C535861|SNOMEDCT:233949008|UMLS:C0340548|http://identifiers.org/omim/234810 http://purl.obolibrary.org/obo/MONDO_0009329 familial pulmonary capillary hemangiomatosis|pulmonary venoocclusive disease 2, autosomal recessive|pulmonary capillary hemangiomatosis|hemangiomatosis, familial pulmonary capillary|pulmonary venoocclusive disease 2, autosomal recessive; PVOD2|PVOD2 ordo_disease MONDO:0009328 hemangiomatosis, cutaneous, with associated features biolink:Disease mondo UMLS:C0220738|MESH:C562438|OMIM:234800 UMLS:C0220738|MESH:C562438|http://identifiers.org/omim/234800 http://purl.obolibrary.org/obo/MONDO_0009328 hemangiomatosis, cutaneous, with associated features MONDO:0024965 muscular dystrophy, non-human animal biolink:Disease mondo UMLS:C0026851|MESH:D009137 MESH:D009137|UMLS:C0026851 http://purl.obolibrary.org/obo/MONDO_0024965 dystrophies, animal muscular|animal muscular dystrophy|dystrophy, animal muscular|animal muscular dystrophies|muscular dystrophies, animal MONDO:0000994 malignant prostate phyllodes tumor biolink:Disease mondo NCIT:C5531|DOID:10289|UMLS:C1334615 An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia. DOID:10289|NCIT:C5531|UMLS:C1334615 http://purl.obolibrary.org/obo/MONDO_0000994 malignant phyllodes neoplasm of prostate|malignant phyllodes tumor of prostate|malignant prostate phyllodes neoplasm|malignant phyllodes tumor of the prostate|malignant phyllodes neoplasm of the prostate|prostate malignant phyllodes tumor|malignant prostate phyllodes tumor MONDO:0012979 primary ciliary dyskinesia 12 biolink:Disease mondo UMLS:C2675228|OMIM:612650|DOID:0110601|MESH:C567211|ICD10:Q34.8 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene. MESH:C567211|http://identifiers.org/omim/612650|UMLS:C2675228|DOID:0110601 http://purl.obolibrary.org/obo/MONDO_0012979 ciliary dyskinesia, primary, 12|CILD12|ciliary dyskinesia, primary, 12; CILD12|ciliary dyskinesia, primary, 12, without situs inversus|primary ciliary dyskinesia 12 without situs inversus|RSPH9 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 12|primary ciliary dyskinesia type 12|primary ciliary dyskinesia caused by mutation in RSPH9 MONDO:0009327 heart, malformation of biolink:Disease mondo OMIM:140500|OMIM:234750 http://identifiers.org/omim/234750|http://identifiers.org/omim/140500 http://purl.obolibrary.org/obo/MONDO_0009327 heart, malformation of MONDO:0010316 FG syndrome 3 biolink:Disease mondo GARD:0009924|UMLS:C1845567|OMIM:300406 http://identifiers.org/omim/300406|UMLS:C1845567 http://purl.obolibrary.org/obo/MONDO_0010316 FG syndrome 3|FGS3|FG syndrome 3; FGS3 gard_rare MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency biolink:Disease mondo NCIT:C4682|SCTID:203592006|DOID:0060013|GARD:0005618|Orphanet:276|EFO:0005555|ICD10:D81.2|OMIM:300400 Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. http://identifiers.org/omim/300400|ORPHA:276|DOID:0060013|SNOMEDCT:203592006|UMLS:C2931540|NCIT:C4682 http://purl.obolibrary.org/obo/MONDO_0010315 severe combined immunodeficiency, X-linked|severe combined immunodeficiency, X-linked; SCIDX1|X-SCID|severe combined immunodeficiency T- B+ due to gamma chain deficiency|T-B+ severe combined immunodeficiency due to gamma chain deficiency|X-linked severe combined immunodeficiency|SCID, X-linked|XSCID|X-linked SCID|immunodeficiency 4|severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative|thymic epithelial hypoplasia|SCIDX|severe combined immunodeficiency T- B+, X-linked|T-B+ severe combined immunodeficiency, X-linked|SCID-X1|SCIDX1|T-B+ SCID due to gamma chain deficiency ordo_disease MONDO:0009326 congenital heart block biolink:Disease mondo COHD:315069|ICD9:746.86|MedDRA:10019263|DOID:990|SCTID:46619002|GARD:0006164|OMIM:234700|MESH:C535758|ICD10:Q24.6|Orphanet:60041|UMLS:C0149530 Heart block that occurs on or before 28 days of life. UMLS:C0149530|http://identifiers.org/omim/234700|MEDDRA:10019263|ORPHA:60041|SNOMEDCT:46619002|DOID:990|MESH:C535758 http://purl.obolibrary.org/obo/MONDO_0009326 congenital atrioventricular block|heart block, congenital gard_rare|ordo_disease MONDO:0009325 deafness-enamel hypoplasia-nail defects syndrome biolink:Disease mondo UMLS:C1856186|Orphanet:3220|SCTID:721085000|GARD:0001687|MESH:C535994 Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. MESH:C535994|ORPHA:3220|UMLS:C1856186|SNOMEDCT:721085000 http://purl.obolibrary.org/obo/MONDO_0009325 Heimler syndrome|deafness enamel hypoplasia nail defects|bilateral sensorineural hearing loss, enamel hypoplasia and nail defects|sensorineural hearing loss, enamel hypoplasia, and nail abnormalities ordo_malformation_syndrome MONDO:0010318 FG syndrome 4 biolink:Disease mondo GARD:0009925|UMLS:CN033933|OMIM:300422 Any FG syndrome in which the cause of the disease is a mutation in the CASK gene. http://identifiers.org/omim/300422|UMLS:CN033933 http://purl.obolibrary.org/obo/MONDO_0010318 CASK FG syndrome|cask FG syndrome|intellectual disability, X-linked, with or without Nystagmus|X-linked intellectual disability with or without nystagmus|FG syndrome 4|FG syndrome 4; FGS4|FG syndrome caused by mutation in CASK|FG syndrome caused by mutation in cask|mental retardation, X-linked, with or without Nystagmus|FG syndrome type 4|FGS4 gard_rare MONDO:0012977 autosomal recessive nonsyndromic deafness 1B biolink:Disease mondo OMIM:612645|MESH:C567213|GTR:AN1075764|DOID:0110476|UMLS:C2675235|UMLS:CN674504|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. MESH:C567213|http://identifiers.org/omim/612645|UMLS:C2675235|UMLS:CN674504|DOID:0110476 http://purl.obolibrary.org/obo/MONDO_0012977 autosomal recessive nonsyndromic deafness caused by mutation in GJB6|deafness, autosomal recessive 1B; DFNB1B|deafness, autosomal recessive 1B|autosomal recessive nonsyndromic deafness type 1B|GJB6 autosomal recessive nonsyndromic deafness|DFNB1B|Autosomal recessive deafness type 1B|autosomal recessive deafness 1B|deafness, autosomal recessive type 1B MONDO:0009324 Hartnup disease biolink:Disease mondo MedDRA:10019165|DOID:1060|MESH:D006250|SCTID:80902009|UMLS:C0018609|Orphanet:2116|ICD10:E72.02|OMIM:234500|GARD:0006569|NCIT:C84748|ICD10:E72.0 Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). UMLS:C0018609|SNOMEDCT:80902009|NCIT:C84748|http://identifiers.org/omim/234500|ORPHA:2116|MEDDRA:10019165|MESH:D006250|DOID:1060 http://purl.obolibrary.org/obo/MONDO_0009324 Hartnup disorder; HND|HND|neutral amino acid transport defect|Hartnup disease|neutral 1 amino acid transport defect|deficiency of tryptophan oxygenase|Hartnup disorder|aminoaciduria, Hartnup type ordo_disease|gard_rare MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related biolink:Disease mondo MESH:C564502|GARD:0005614|UMLS:C0796244|UMLS:C1845298|OMIM:300419|OMIM:300504|MESH:C563150 http://identifiers.org/omim/300419|UMLS:C0796244|http://identifiers.org/omim/300504|UMLS:C1845298|MESH:C564502|MESH:C563150 http://purl.obolibrary.org/obo/MONDO_0010317 MRXARX|intellectual disability, X-linked 29|mental retardation, X-linked 52; MRX52|mental retardation, X-linked 29|intellectual disability, X-linked 38|mental retardation, X-linked 52|mental retardation, X-linked 38|MRX52|intellectual disability, X-linked 33|intellectual disability, X-linked, with or without seizures, ARX-related|intellectual disability, X-linked 32|intellectual disability, X-linked 43|intellectual disability, X-linked 54|intellectual disability, X-linked 87|intellectual disability, X-linked 76|mental retardation, X-linked 33|mental retardation, X-linked, with or without seizures, arx-related|intellectual disability, X-linked 52; MRX52|intellectual disability, X-linked, with or without seizures, arx-RELATED; MRXARX|mental retardation, X-linked 54|mental retardation, X-linked 32|mental retardation, X-linked 43|mental retardation, X-linked 87|mental retardation, X-linked 76|intellectual disability, X-linked 52|mental retardation, X-linked, with or without seizures, arx-RELATED; MRXARX|ARX-related intellectual disability MONDO:0012978 primary ciliary dyskinesia 11 biolink:Disease mondo DOID:0110602|MESH:C567212|ICD10:Q34.8|OMIM:612649|UMLS:C2675229 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene. MESH:C567212|UMLS:C2675229|http://identifiers.org/omim/612649|DOID:0110602 http://purl.obolibrary.org/obo/MONDO_0012978 ciliary dyskinesia, primary, 11; CILD11|ciliary dyskinesia, primary, 11, without situs inversus|ciliary dyskinesia, primary, type 11|primary ciliary dyskinesia 11 without situs inversus|primary ciliary dyskinesia caused by mutation in RSPH4A|primary ciliary dyskinesia type 11|ciliary dyskinesia, primary, 11|CILD11|RSPH4A primary ciliary dyskinesia MONDO:0009323 Halothane hepatitis biolink:Disease mondo UMLS:C0241913|MESH:C562477|SCTID:235873001|OMIM:234350 MESH:C562477|http://identifiers.org/omim/234350|SNOMEDCT:235873001|UMLS:C0241913 http://purl.obolibrary.org/obo/MONDO_0009323 Halothane hepatitis GO:1905330 regulation of morphogenesis of an epithelium biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of morphogenesis of an epithelium. http://purl.obolibrary.org/obo/GO_1905330 regulation of epithelium morphogenesis GO:1905331 negative regulation of morphogenesis of an epithelium biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of morphogenesis of an epithelium. http://purl.obolibrary.org/obo/GO_1905331 down-regulation of morphogenesis of an epithelium|downregulation of epithelium morphogenesis|down regulation of epithelium morphogenesis|inhibition of epithelium morphogenesis|down-regulation of epithelium morphogenesis|negative regulation of epithelium morphogenesis|downregulation of morphogenesis of an epithelium|down regulation of morphogenesis of an epithelium|inhibition of morphogenesis of an epithelium MONDO:0010319 syndromic X-linked intellectual disability Hedera type biolink:Disease mondo MESH:C564516|OMIM:300423|UMLS:C1845543|Orphanet:93952|DOID:0060806 X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. http://identifiers.org/omim/300423|ORPHA:93952|UMLS:C1845543|MESH:C564516|DOID:0060806 http://purl.obolibrary.org/obo/MONDO_0010319 mental retardation, X-linked, syndromic, Hedera type|X-linked intellectual disability with epilepsy|X-linked mental retardation with epilepsy|MRXSH|X-linked intellectual disability, Hedera type|intellectual disability, X-linked, syndromic, Hedera type|MRXE|intellectual disability, X-linked, with epilepsy|mental retardation, X-linked, with epilepsy|intellectual disability, X-linked, syndromic, Hedera type; MRXSH|mental retardation, X-linked, syndromic, Hedera type; MRXSH ordo_disease MONDO:0009322 obsolete halo nevi biolink:Disease mondo OMIM:234300 http://identifiers.org/omim/234300 http://purl.obolibrary.org/obo/MONDO_0009322 MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome biolink:Disease mondo ICD10:Q74.2|UMLS:C1856197|OMIM:234280|MESH:C536885|Orphanet:2110|GARD:0003118 Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. http://identifiers.org/omim/234280|ORPHA:2110|UMLS:C1856197|MESH:C536885 http://purl.obolibrary.org/obo/MONDO_0009321 hallux varus and preaxial polysyndactyly|Kleiner Holmes syndrome|Kleiner-Holmes syndrome ordo_malformation_syndrome GO:1905332 positive regulation of morphogenesis of an epithelium biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of morphogenesis of an epithelium. http://purl.obolibrary.org/obo/GO_1905332 upregulation of morphogenesis of an epithelium|up-regulation of epithelium morphogenesis|activation of epithelium morphogenesis|up regulation of morphogenesis of an epithelium|upregulation of epithelium morphogenesis|up-regulation of morphogenesis of an epithelium|activation of morphogenesis of an epithelium|positive regulation of epithelium morphogenesis|up regulation of epithelium morphogenesis MONDO:0009320 Hall-Riggs syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C1856198|OMIM:234250|Orphanet:2107|MESH:C535623|SCTID:721008000|GARD:0002586 Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit. http://identifiers.org/omim/234250|ORPHA:2107|UMLS:C1856198|MESH:C535623|SNOMEDCT:721008000 http://purl.obolibrary.org/obo/MONDO_0009320 HALL-Riggs intellectual disability syndrome|HALL-Riggs mental retardation syndrome|Hall Riggs mental retardation syndrome|Hall Riggs intellectual disability syndrome ordo_malformation_syndrome MONDO:0012982 episodic ataxia type 6 biolink:Disease mondo DOID:0050994|SCTID:718753002|OMIM:612656|ICD10:G11.8|UMLS:C2675211|Orphanet:209967|MESH:C567207 Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. ORPHA:209967|DOID:0050994|SNOMEDCT:718753002|MESH:C567207|UMLS:C2675211|http://identifiers.org/omim/612656 http://purl.obolibrary.org/obo/MONDO_0012982 SLC1A3 hereditary episodic ataxia|hereditary episodic ataxia caused by mutation in SLC1A3|episodic ataxia, type 6; EA6|EA6|episodic ataxia, type 6 ordo_disease MONDO:0012983 cone-rod dystrophy 12 biolink:Disease mondo DOID:0111019|OMIM:612657|UMLS:C2675210|MESH:C567206 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene. UMLS:C2675210|http://identifiers.org/omim/612657|DOID:0111019|MESH:C567206 http://purl.obolibrary.org/obo/MONDO_0012983 cone-rod dystrophy 12; CORD12|cone-rod dystrophy type 12|cone-rod dystrophy 12|CORD12|PROM1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in PROM1 MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C2675227|DOID:0060641|Orphanet:199332|MESH:C567210|UMLS:C4509819|OMIM:612651|SCTID:723309006 Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. ORPHA:199332|UMLS:C4509819|DOID:0060641|SNOMEDCT:723309006|MESH:C567210|http://identifiers.org/omim/612651|UMLS:C2675227 http://purl.obolibrary.org/obo/MONDO_0012980 ECO syndrome|endocrine-CEREBROOSTEODYSPLASIA|ECO|endocrine-CEREBROOSTEODYSPLASIA; ECO ordo_malformation_syndrome MONDO:0010321 autism, susceptibility to, X-linked 1 biolink:Disease mondo OMIM:300425 http://identifiers.org/omim/300425 http://purl.obolibrary.org/obo/MONDO_0010321 autism, susceptibility to, X-linked 1; AUTSX1|autism, susceptibility to, X-linked 1|AUTSX1|autism, susceptibility to, X-linked type 1|susceptibility to X-linked autism 1 predisposition MONDO:0012981 hereditary spherocytosis type 4 biolink:Disease mondo OMIM:612653|UMLS:C2675212|DOID:0110919|MESH:C567208 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene. DOID:0110919|MESH:C567208|http://identifiers.org/omim/612653|UMLS:C2675212 http://purl.obolibrary.org/obo/MONDO_0012981 SLC4A1 hereditary spherocytosis|HS4|spherocytosis, type 4; SPH4|spherocytosis, type 4|hereditary spherocytosis 4|SPH4|spherocytosis, hereditary, 4|hereditary spherocytosis caused by mutation in SLC4A1 MONDO:0010320 retinitis pigmentosa 23 biolink:Disease mondo UMLS:C1419610|ICD10:H35.5|DOID:0110412|GARD:0010391|OMIM:300424 Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene. UMLS:C1419610|DOID:0110412|http://identifiers.org/omim/300424 http://purl.obolibrary.org/obo/MONDO_0010320 RP 23|retinitis pigmentosa 23; RP23|OFD1 retinitis pigmentosa|retinitis pigmentosa 23|RP23|retinitis pigmentosa caused by mutation in OFD1|retinitis pigmentosa type 23 gard_rare MONDO:0010323 Atkin-Flaitz syndrome biolink:Disease mondo Orphanet:1193|GARD:0003537|SCTID:718577005|OMIM:300431|ICD10:Q87.8 Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. ORPHA:1193|http://identifiers.org/omim/300431|UMLS:C0796206|SNOMEDCT:718577005 http://purl.obolibrary.org/obo/MONDO_0010323 X-linked intellectual disability, Atkin type|Atkin syndrome|Atkin-Flaitz syndrome ordo_malformation_syndrome MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria biolink:Disease mondo GARD:0010785|OMIM:612691|MESH:C567201|ICD10:Q04.3|UMLS:C2675191|Orphanet:208441 UMLS:C2675191|http://identifiers.org/omim/612691|ORPHA:208441|MESH:C567201 http://purl.obolibrary.org/obo/MONDO_0012986 polymicrogyria, bilateral temporooccipital|polymicrogyria, bilateral temporooccipital; BTOP|BTOP ordo_clinical_subtype|gard_rare MONDO:0010322 MRX2 biolink:Disease mondo MESH:C563135|OMIM:300428|UMLS:C0796207 MESH:C563135|http://identifiers.org/omim/300428|UMLS:C0796207 http://purl.obolibrary.org/obo/MONDO_0010322 intellectual disability, X-linked 2; MRX2|mental retardation, X-linked 2; MRX2|intellectual disability, X-linked 2|mental retardation, X-linked 2|MRX2 MONDO:0012987 agammaglobulinemia 6, autosomal recessive biolink:Disease mondo UMLS:C3150207|OMIM:612692 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene. http://identifiers.org/omim/612692|UMLS:C3150207 http://purl.obolibrary.org/obo/MONDO_0012987 agammaglobulinemia, autosomal recessive, due to Cd79B defect|AGM6|agammaglobulinemia 6, autosomal recessive; AGM6|CD79B autosomal agammaglobulinemia|agammaglobulinemia 6, autosomal recessive|autosomal agammaglobulinemia caused by mutation in CD79B MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type biolink:Disease mondo Orphanet:85288|ICD10:Q87.8|UMLS:C1845530|SCTID:718910006|GARD:0001133|OMIM:300434|MESH:C537495 UMLS:C1845530|ORPHA:85288|MESH:C537495|SNOMEDCT:718910006|http://identifiers.org/omim/300434 http://purl.obolibrary.org/obo/MONDO_0010325 Stocco DOS Santos X-linked intellectual disability syndrome; SDSX|Stocco DOS Santos X-linked mental retardation syndrome; SDSX|intellectual disability, X-linked, Stocco Dos Santos type|mental retardation, X-linked, Stocco Dos Santos type|Stocco dos Santos syndrome|Stocco DOS Santos X-linked intellectual disability syndrome|Sdsx|Stocco DOS Santos X-linked mental retardation syndrome|intellectual disability, Stocco dos Santos type|mental retardation, Stocco dos Santos type ordo_malformation_syndrome MONDO:0012984 PHARC syndrome biolink:Disease mondo MESH:C567203|OMIM:612674|SCTID:723452007|DOID:0080181|UMLS:C2675204|Orphanet:171848 Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. http://identifiers.org/omim/612674|UMLS:C2675204|SNOMEDCT:723452007|ORPHA:171848|MESH:C567203|DOID:0080181 http://purl.obolibrary.org/obo/MONDO_0012984 PHARC|polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; PHARC|polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome|peripheral neuropathy, Fiskerstrand type|PHARC syndrome|polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract ordo_disease MONDO:0010324 MRX81 biolink:Disease mondo OMIM:300433|UMLS:C1845531|MESH:C564515 UMLS:C1845531|MESH:C564515|http://identifiers.org/omim/300433 http://purl.obolibrary.org/obo/MONDO_0010324 intellectual disability, X-linked 81; MRX81|mental retardation, X-linked 81; MRX81|MRX81|intellectual disability, X-linked 81|mental retardation, X-linked 81 MONDO:0012985 hereditary spherocytosis type 5 biolink:Disease mondo MESH:C567202|DOID:0110920|OMIM:612690|UMLS:C2675192 Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene. http://identifiers.org/omim/612690|UMLS:C2675192|DOID:0110920|MESH:C567202 http://purl.obolibrary.org/obo/MONDO_0012985 hereditary spherocytosis 5|spherocytosis, type 5|spherocytosis, hereditary, 5|hereditary spherocytosis caused by mutation in EPB42|SPH5|HS5|spherocytosis, type 5; SPH5|EPB42 hereditary spherocytosis MONDO:0000989 mumps infectious disease biolink:Disease mondo ICD9:072|ICD10:B26.9|EFO:0007383|MESH:D019351|SCTID:36989005|NCIT:C29888|UMLS:C0026780|MESH:D009107|ICD10:B26|GARD:0007116|DOID:10264 A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. MESH:D009107|UMLS:C0026780|SNOMEDCT:36989005|MESH:D019351|NCIT:C29888|DOID:10264 http://purl.obolibrary.org/obo/MONDO_0000989 mumps|Mumps virus infectious disease|Mumps virus caused disease or disorder|Mumps virus disease or disorder|epidemic parotitis|mumps virus infectious disease gard_rare MONDO:0000988 discharging ear biolink:Disease mondo ICD10:H92.10|DOID:10261|ICD10:H92.1|ICD9:388.60|ICD9:388.6 Discharge or drainage of fluid from the ear. NCIT:C35199|DOID:10261 http://purl.obolibrary.org/obo/MONDO_0000988 MONDO:0000987 cholesterolosis of gallbladder biolink:Disease mondo ICD10:K82.4|SCTID:61565001|DOID:10254|ICD9:575.6|COHD:197318|UMLS:C0152456 A disorder characterized by a change in the gallbladder wall due to excess cholesterol. UMLS:C0152456|SNOMEDCT:61565001|DOID:10254 http://purl.obolibrary.org/obo/MONDO_0000987 strawberry gallbladder MONDO:0024950 horse disease biolink:Disease mondo MESH:D006734|UMLS:C0019940 Diseases of domestic and wild horses of the species Equus caballus. MESH:D006734|UMLS:C0019940 http://purl.obolibrary.org/obo/MONDO_0024950 horse disease|disease, horse|disease, equine|equine disease|diseases, equine|diseases, horse|equine diseases MONDO:0024953 lameness, non-human animal biolink:Disease mondo MESH:D007794 A departure from the normal gait in animals. MESH:D007794 http://purl.obolibrary.org/obo/MONDO_0024953 animal lameness|Gait disorders, animal|animal Gait disorder|animal Lamenesses|disorder, animal Gait|disorders, animal Gait|Lamenesses, animal|animal Gait disorders|Gait disorder, animal MONDO:0009339 congenital bile acid synthesis defect 2 biolink:Disease mondo MESH:C535443|Orphanet:79303|GARD:0010045|DOID:0111069|ICD10:K76.8|UMLS:C1856127|OMIM:235555 Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. http://identifiers.org/omim/235555|UMLS:C1856127|DOID:0111069|MESH:C535443|ORPHA:79303 http://purl.obolibrary.org/obo/MONDO_0009339 bile acid synthesis defect, congenital, 2; CBAS2|cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|bile acid synthesis defect, congenital, 2|CBAS2|congenital bile acid synthesis defect, type 2|bile acid synthesis defect, congenital, type 2|congenital bile acid synthesis defect caused by mutation in AKR1D1|cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency|congenital bile acid synthesis defect type 2|AKR1D1 congenital bile acid synthesis defect|BASD2 ordo_disease MONDO:0024954 larva migrans, visceral biolink:Disease mondo MESH:D007816 A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati. MESH:D007816 http://purl.obolibrary.org/obo/MONDO_0024954 visceral larva migrans|visceral larva Migran|visceral larva migrans syndrome|larva Migran, visceral|Migran, visceral larva|migrans, visceral larva MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome biolink:Disease mondo ICD10:K76.5|GARD:0010083|Orphanet:79124|OMIM:235550|UMLS:C1856128|SCTID:724361001|MESH:C537257 Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. SNOMEDCT:724361001|http://identifiers.org/omim/235550|UMLS:C1856128|MESH:C537257|ORPHA:79124 http://purl.obolibrary.org/obo/MONDO_0009338 veno-occlusive disease and immunodeficiency syndrome|familial veno-occlusive disease with immunodeficiency|hepatic veno-occlusive disease with immunodeficiency|VODI syndrome|hepatic venoocclusive disease with immunodeficiency; VODI|hepatic venoocclusive disease with immunodeficiency|VODI gard_rare|ordo_disease MONDO:0012968 Usher syndrome type 1H biolink:Disease mondo OMIM:612632|ICD10:H35.5|MESH:C567227|DOID:0110835|UMLS:C2675458 An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23. MESH:C567227|http://identifiers.org/omim/612632|UMLS:C2675458|DOID:0110835 http://purl.obolibrary.org/obo/MONDO_0012968 USHER syndrome, type IH; USH1H|Usher syndrome type IH|USH1H|USHER syndrome, type IH MONDO:0010305 creatine transporter deficiency biolink:Disease mondo GARD:0001608|NCIT:C125665|SCTID:698290008|DOID:0050800|ICD9:758.81|MESH:C535598|Orphanet:52503|ICD10:E72.8|OMIM:300352 X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. http://identifiers.org/omim/300352|SNOMEDCT:698290008|DOID:0050800|MESH:C535598|NCIT:C125665|ORPHA:52503 http://purl.obolibrary.org/obo/MONDO_0010305 creatine transporter deficiency|cerebral creatine deficiency syndrome 1; CCDS1|mental retardation, X-linked, with seizures, short stature, and midface hypoplasia|SLC6A8 deficiency|creatine deficiency, X-linked|intellectual disability, X-linked with seizures, short stature and midface hypoplasia|mental retardation, X-linked, with creatine Transport deficiency|X-linked creatine transporter deficiency|X-linked creatine deficiency syndrome|intellectual disability, X-linked, with creatine transport deficiency|X-linked creatine deficiency|cerebral creatine deficiency syndrome type 1|creatine transporter defect|intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia|cerebral creatine deficiency syndrome 1|mental retardation, X-linked with seizures, short stature and midface hypoplasia|intellectual disability, X-linked, with creatine Transport deficiency|CCDS1|creatine deficiency syndrome, X-linked|mental retardation, X-linked, with creatine transport deficiency ordo_disease MONDO:0010304 Graves disease, susceptibility to, X-linked 1 biolink:Disease mondo OMIM:300351 http://identifiers.org/omim/300351 http://purl.obolibrary.org/obo/MONDO_0010304 Graves disease, susceptibility to, X-linked 1|Graves disease, susceptibility to, X-linked 2|Grdx1|Graves disease, susceptibility to, X-linked type 1 predisposition MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 biolink:Disease mondo OMIM:612633 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene. http://identifiers.org/omim/612633 http://purl.obolibrary.org/obo/MONDO_0012969 PON1 microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, type 5|MVCD5|retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in PON1|microvascular complications of diabetes, susceptibility to, 5|microvascular complications of diabetes, susceptibility to, 5; MVCD5 predisposition MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 biolink:Disease mondo OMIM:235510|UMLS:C4012050 Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene. http://identifiers.org/omim/235510|UMLS:C4012050 http://purl.obolibrary.org/obo/MONDO_0009337 Hennekam lymphangiectasia-lymphedema syndrome 1; HKLLS1|Hennekam syndrome caused by mutation in CCBE1|Hennekam lymphangiectasia-lymphedema syndrome 1|Hennekam lymphangiectasia-lymphedema syndrome|lymphatic dysplasia, generalized|CCBE1 Hennekam syndrome|Hennekam lymphangiectasia-lymphedema syndrome type 1|HKLLS1 MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin biolink:Disease mondo OMIM:235500 http://identifiers.org/omim/235500 http://purl.obolibrary.org/obo/MONDO_0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin MONDO:0010307 MRX73 biolink:Disease mondo MESH:C564528|OMIM:300355|UMLS:C1845860 http://identifiers.org/omim/300355|UMLS:C1845860|MESH:C564528 http://purl.obolibrary.org/obo/MONDO_0010307 intellectual disability, X-linked 73; MRX73|intellectual disability, X-linked 73|MRX73|mental retardation, X-linked 73; MRX73|mental retardation, X-linked 73 MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 biolink:Disease mondo OMIM:612628 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene. http://identifiers.org/omim/612628 http://purl.obolibrary.org/obo/MONDO_0012966 nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 4|IL1RN microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, 4|microvascular complications of diabetes, susceptibility to, 4; MVCD4|microvascular complications of diabetes, susceptibility caused by mutation in IL1RN|MVCD4 predisposition MONDO:0010306 X-linked intellectual disability, Cabezas type biolink:Disease mondo SCTID:719811001|GARD:0013244|UMLS:C1845861|DOID:0060822|UMLS:C1845845|Orphanet:85293|ICD10:Q87.8|OMIM:300354 X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. http://identifiers.org/omim/300354|ORPHA:85293|SNOMEDCT:719811001|UMLS:C1845861|UMLS:C1845845|DOID:0060822 http://purl.obolibrary.org/obo/MONDO_0010306 MRXS15|mental retardation, X-linked, syndromic 15|Cabezas syndrome; syndromic X-linked intellectual disability 15|intellectual disability, X-linked, syndromic, Cabezas type; MRXSC|X-linked intellectual disability with short stature|intellectual disability, X-linked, with short stature|intellectual disability, X-linked, syndromic 15 (Cabezas type)|mental retardation, X-linked, syndromic 15 (Cabezas type)|X-linked mental retardation with short stature, hypogonadism, and abnormal gait|MRXSC|intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait|intellectual disability, X-linked, syndromic, Cabezas type|Cul4B-related X-linked intellectual disability|X-linked mental retardation with short stature|X-linked intellectual disability with short stature, hypogonadism, and abnormal gait|mental retardation, X-linked, syndromic, Cabezas type; MRXSC|Cabezas syndrome|syndromic X-linked intellectual disability Cabezas type|mental retardation, X-linked, with short stature|mental retardation, X-linked, syndromic, Cabezas type|Cabezas type of X-linked syndromic intellectual disability|Cabezas syndrome; syndromic X-linked mental retardation 15|mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait|intellectual disability, X-linked, syndromic 15|MRSS ordo_malformation_syndrome MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency biolink:Disease mondo ICD10:D55.3|SCTID:766982000|OMIM:612631|Orphanet:86817|MESH:C567228|UMLS:C2675459 Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. MESH:C567228|http://identifiers.org/omim/612631|UMLS:C2675459|ORPHA:86817|SNOMEDCT:766982000 http://purl.obolibrary.org/obo/MONDO_0012967 ADENYLATE KINASE deficiency, hemolytic anemia due to ordo_disease MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 biolink:Disease mondo OMIM:235400 http://identifiers.org/omim/235400 http://purl.obolibrary.org/obo/MONDO_0009335 susceptibility to atypical hemolytic uremic syndrome 1|AHUS1|hemolytic uremic syndrome, atypical, susceptibility to, 1; AHUS1|hemolytic uremic syndrome, atypical, susceptibility to, type 1|hemolytic uremic syndrome, typical|hemolytic uremic syndrome, atypical, susceptibility to, 1|Ahus, susceptibility to, 1 predisposition MONDO:0010309 MRX42 biolink:Disease mondo UMLS:C1845810|MESH:C564524|OMIM:300372 http://identifiers.org/omim/300372|UMLS:C1845810|MESH:C564524 http://purl.obolibrary.org/obo/MONDO_0010309 mental retardation, X-linked 42|mental retardation, X-linked 42; MRX42|intellectual disability, X-linked 42; MRX42|intellectual disability, X-linked 42|MRX42 MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells biolink:Disease mondo MESH:C565522|OMIM:235370|UMLS:C1856158 http://identifiers.org/omim/235370|UMLS:C1856158|MESH:C565522 http://purl.obolibrary.org/obo/MONDO_0009334 hemolytic anemia with thermal sensitivity of red cells MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome biolink:Disease mondo GARD:0005430|OMIM:235255|UMLS:C1856159|MESH:C536478|Orphanet:1655 Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure. http://identifiers.org/omim/235255|UMLS:C1856159|ORPHA:1655|MESH:C536478 http://purl.obolibrary.org/obo/MONDO_0009333 persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly|Urioste syndrome|Müllerian derivatives-lymphangiectasia-polydactyly syndrome|renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly|MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly ordo_malformation_syndrome MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia biolink:Disease mondo UMLS:C3550789|NCIT:C136653|OMIM:300367 An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present. http://identifiers.org/omim/300367|NCIT:C136653|UMLS:C3550789 http://purl.obolibrary.org/obo/MONDO_0010308 XLTDA|thrombocytopenia, X-linked, with or without dyserythropoietic anemia|thrombocytopenia, X-linked, with or without dyserythropoietic anemia; XLTDA|X-linked thrombocytopenia, with or without dyserythropoietic Anemia MONDO:0009332 congenital hematological disorder biolink:Disease mondo NCIT:C104003 A disorder of the blood that is present at birth. NCIT:C104003 http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological system disease|congenital hematological disorder MONDO:0009331 isolated hemihyperplasia biolink:Disease mondo ICD10:Q87.3|OMIM:235000|MESH:C565524|UMLS:C1856184|Orphanet:2128|MedDRA:10019463|GARD:0002630 Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma. ORPHA:2128|MEDDRA:10019463|UMLS:C1856184|UMLS:C0332890|MESH:C565524|http://identifiers.org/omim/235000 http://purl.obolibrary.org/obo/MONDO_0009331 Hemicorporal hypertrophy|isolated hemihypertrophy|IH|hemihyperplasia, isolated; IH|hemihyperplasia|hemi 3 syndrome|hemi-3 syndrome|hemihypertrophy, isolated|hemihyperplasia, isolated ordo_morphological_anomaly MONDO:0009330 hemangiopericytoma, malignant biolink:Disease mondo ICDO:9150/3|OMIM:234820|GARD:0002627|NCIT:C4301|MESH:C562740|UMLS:C0334542 An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone. UMLS:C0334542|http://identifiers.org/omim/234820|NCIT:C4301|MESH:C562740 http://purl.obolibrary.org/obo/MONDO_0009330 hemangiopericytoma, malignant|malignant hemangiopericytoma|malignant hemangiopericytoma NOS MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 biolink:Disease mondo OMIM:612635 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene. http://identifiers.org/omim/612635 http://purl.obolibrary.org/obo/MONDO_0012971 microvascular complications of diabetes, susceptibility to, 7|microvascular complications of diabetes, susceptibility to, 7; MVCD7|HFE microvascular complications of diabetes, susceptibility|MVCD7|microvascular complications of diabetes, susceptibility caused by mutation in HFE|proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 7|nephropathy, diabetic, susceptibility to|nonproliferative retinopathy, diabetic, susceptibility to predisposition MONDO:0012972 FEB10 biolink:Disease mondo UMLS:C2675251|OMIM:612637|MESH:C567218 http://identifiers.org/omim/612637|UMLS:C2675251|MESH:C567218 http://purl.obolibrary.org/obo/MONDO_0012972 febrile seizures, familial, 10; FEB10|convulsions, familial febrile, 10|febrile seizures, familial, 10|FEB10 MONDO:0010310 osteopathia striata with cranial sclerosis biolink:Disease mondo DOID:0060886|EFO:0005834|MESH:C536053|ICD9:733.99|SCTID:254129003|GARD:0004148|OMIM:300373|ICD10:Q78.8|UMLS:C0432268|Orphanet:2780 Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. MESH:C536053|ORPHA:2780|UMLS:C0432268|SNOMEDCT:254129003|DOID:0060886|http://identifiers.org/omim/300373 http://purl.obolibrary.org/obo/MONDO_0010310 osteopathia striata - cranial sclerosis|osteopathia striata with cranial sclerosis|osteopathia striata-cranial sclerosis syndrome|hyperostosis generalisata with striations|osteopathia striata with cranial sclerosis; OSCS|OSCS|osteopathia striata cranial sclerosis|Robinow-Unger syndrome ordo_malformation_syndrome MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 biolink:Disease mondo OMIM:612634 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene. http://identifiers.org/omim/612634 http://purl.obolibrary.org/obo/MONDO_0012970 microvascular complications of diabetes, susceptibility to, 6; MVCD6|SOD2 microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility caused by mutation in SOD2|nephropathy, diabetic, susceptibility to|MVCD6|microvascular complications of diabetes, susceptibility to, type 6|microvascular complications of diabetes, susceptibility to, 6 predisposition MONDO:0012975 autosomal dominant nonsyndromic deafness 3B biolink:Disease mondo MESH:C567215|OMIM:612643|UMLS:C2675237|DOID:0110565|ICD10:H90.3 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. MESH:C567215|UMLS:C2675237|http://identifiers.org/omim/612643|DOID:0110565 http://purl.obolibrary.org/obo/MONDO_0012975 GJB6 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 3B|autosomal dominant nonsyndromic deafness caused by mutation in GJB6|deafness, autosomal dominant 3B|deafness, autosomal dominant 3B; DFNA3B|deafness, autosomal dominant type 3B|autosomal dominant deafness 3B|DFNA3B MONDO:0010312 radial ray deficiency, X-linked biolink:Disease mondo MESH:C564523|OMIM:300378|UMLS:C1845717 UMLS:C1845717|MESH:C564523|http://identifiers.org/omim/300378 http://purl.obolibrary.org/obo/MONDO_0010312 radial ray deficiency, X-linked|Rrdx MONDO:0010311 Becker muscular dystrophy biolink:Disease mondo SCTID:387732009|MedDRA:10059117|UMLS:C3490459|GARD:0005900|MESH:C570377|ICD10:G71.0|OMIM:300376|UMLS:C0699741|NCIT:C84587|DOID:9883|Orphanet:98895 Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. MESH:C570377|MEDDRA:10059117|ORPHA:98895|UMLS:C0699741|UMLS:C0917713|SNOMEDCT:387732009|NCIT:C84587|UMLS:C3490459|DOID:9883|http://identifiers.org/omim/300376 http://purl.obolibrary.org/obo/MONDO_0010311 muscular dystrophy pseudohypertrophic progressive, Becker type|benign pseudohypertrophic muscular dystrophy|BMD|muscular dystrophy, pseudohypertrophic progressive, Becker type|Becker muscular dystrophy|Becker's muscular dystrophy|Becker dystrophinopathy|muscular dystrophy, Becker type; BMD|muscular dystrophy, Becker type|benign congenital myopathy|BMD gard_rare|ordo_disease MONDO:0012976 autosomal dominant nonsyndromic deafness 2B biolink:Disease mondo ICD10:H90.3|MESH:C567214|DOID:0110559|UMLS:C2675236|OMIM:612644 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene. MESH:C567214|UMLS:C2675236|http://identifiers.org/omim/612644|DOID:0110559 http://purl.obolibrary.org/obo/MONDO_0012976 autosomal dominant deafness 2B|autosomal dominant nonsyndromic deafness caused by mutation in GJB3|DFNA2B|deafness, autosomal dominant 2B; DFNA2B|deafness, autosomal dominant 2B|deafness, autosomal dominant type 2B|autosomal dominant nonsyndromic deafness type 2B|GJB3 autosomal dominant nonsyndromic deafness MONDO:0012973 inflammatory bowel disease 26 biolink:Disease mondo MESH:C567217|DOID:0110901|OMIM:612639|UMLS:C2675249 An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15. UMLS:C2675249|http://identifiers.org/omim/612639|DOID:0110901|MESH:C567217 http://purl.obolibrary.org/obo/MONDO_0012973 inflammatory bowel disease 26; IBD26|IBD26|inflammatory bowel disease type 26|inflammatory bowel disease 26 MONDO:0010314 BPPX biolink:Disease mondo OMIM:300388|SCTID:438583008 SNOMEDCT:438583008|http://identifiers.org/omim/300388 http://purl.obolibrary.org/obo/MONDO_0010314 perisylvian syndrome, congenital bilateral|BPPX|BPP|PMGX|polymicrogyria, bilateral perisylvian, X-linked; BPPX|polymicrogyria, bilateral perisylvian, X-linked MONDO:0012974 autosomal dominant nonsyndromic deafness 59 biolink:Disease mondo MESH:C567216|UMLS:C2675238|OMIM:612642|ICD10:H90.3|DOID:0110583 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3. MESH:C567216|UMLS:C2675238|http://identifiers.org/omim/612642|DOID:0110583 http://purl.obolibrary.org/obo/MONDO_0012974 deafness, autosomal dominant 59|autosomal dominant deafness 59|deafness, autosomal dominant 59; DFNA59|DFNA59|autosomal dominant nonsyndromic deafness type 59 MONDO:0010313 intellectual disability, X-linked 63 biolink:Disease mondo MESH:C564522|OMIM:300387|GARD:0005613|UMLS:C1845672 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene. UMLS:C1845672|MESH:C564522|http://identifiers.org/omim/300387 http://purl.obolibrary.org/obo/MONDO_0010313 mental retardation, X-linked 68|intellectual disability, X-linked 63; MRX63|intellectual disability, X-linked type 63|intellectual disability, X-linked 63|ACSL4 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in ACSL4|mental retardation, X-linked 63; MRX63|ACSL4-related intellectual disability|mental retardation, X-linked 63|intellectual disability, X-linked 68|MRX63|mental retardation, X-linked type 63 MONDO:0024945 hepatitis, non-human animal biolink:Disease mondo MESH:D006520 Inflammation of the liver in non-human animals. MESH:D006520 http://purl.obolibrary.org/obo/MONDO_0024945 Hepatitides, animal|animal Hepatitis|animal Hepatitides MONDO:0000999 obsolete pneumoconiosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000999 MONDO:0000998 obsolete parotid disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000998 MONDO:0000971 chest wall lipoma biolink:Disease mondo SCTID:448270009|UMLS:C1332932|ICD9:214.8|NCIT:C6719|DOID:10200 A benign adipose tissue neoplasm of the chest wall. UMLS:C1332932|NCIT:C6719|SNOMEDCT:448270009|DOID:10200 http://purl.obolibrary.org/obo/MONDO_0000971 lipoma of chest wall|chest wall lipoma|lipoma of the chest wall MONDO:0000970 breast lipoma biolink:Disease mondo NCIT:C4647|ICD9:214.1|UMLS:C0349565|DOID:10199|SCTID:276891009 A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent. SNOMEDCT:276891009|UMLS:C0349565|DOID:10199|NCIT:C4647 http://purl.obolibrary.org/obo/MONDO_0000970 lipoma of breast|breast lipoma|lipoma of the breast MONDO:0000975 lipoma of spermatic cord biolink:Disease mondo COHD:197823|UMLS:C0153972|ICD9:214.4|NCIT:C3606|DOID:10206|SCTID:93162007 A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions. SNOMEDCT:93162007|NCIT:C3606|UMLS:C0153972|DOID:10206 http://purl.obolibrary.org/obo/MONDO_0000975 lipoma of the spermatic cord|lipoma of spermatic cord|spermatic cord lipoma MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 biolink:Disease mondo MESH:C565532|OMIM:233700|DOID:0070192|UMLS:C1856251 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene. MESH:C565532|DOID:0070192|http://identifiers.org/omim/233700|UMLS:C1856251 http://purl.obolibrary.org/obo/MONDO_0009309 Soc2, deficiency of|p47-PHOX, deficiency of|granulomatous disease, chronic, due to Ncf1 deficiency|soluble oxidase component II, deficiency of|CDG1|NCF1 chronic granulomatous disease|Ncf1, deficiency of|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I|chronic granulomatous disease caused by mutation in NCF1|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I; CDG1|neutrophil cytosol Factor 1, deficiency of|CGD, autosomal recessive cytochrome B-positive, type 1 MONDO:0000974 axillary lipoma biolink:Disease mondo ICD9:214.8|DOID:10205|NCIT:C35419|UMLS:C0347429|SCTID:188993006 A benign adipose tissue neoplasm of the axilla. SNOMEDCT:188993006|NCIT:C35419|DOID:10205|UMLS:C0347429 http://purl.obolibrary.org/obo/MONDO_0000974 lipoma of axilla|axilla lipoma|axillary lipoma MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative biolink:Disease mondo OMIM:233690|DOID:0070193|UMLS:C1856255|MESH:C565533 MESH:C565533|DOID:0070193|http://identifiers.org/omim/233690|UMLS:C1856255 http://purl.obolibrary.org/obo/MONDO_0009308 Cyba deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-negative|CGD, autosomal recessive cytochrome B-negative|CGD due to deficiency of the Alpha Subunit of cytochrome B NCBITaxon:6854 Arachnida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6854 arachnids|arachnids MONDO:0009307 granulomatous disease with defect in neutrophil chemotaxis biolink:Disease mondo OMIM:233670|UMLS:C1856261|MESH:C565534 MESH:C565534|http://identifiers.org/omim/233670|UMLS:C1856261 http://purl.obolibrary.org/obo/MONDO_0009307 granulomatous disease with defect in neutrophil chemotaxis MONDO:0000973 external ear lipoma biolink:Disease mondo UMLS:C0347423|NCIT:C4618|SCTID:188988008|DOID:10203|ICD9:215.0 A benign adipose tissue neoplasm of the external ear. SNOMEDCT:188988008|DOID:10203|UMLS:C0347423|NCIT:C4618 http://purl.obolibrary.org/obo/MONDO_0000973 lipoma of the external ear|external ear lipoma|lipoma of external auditory meatus|lipoma of the external auditory meatus|external Ear lipoma|lipoma of external ear|lipoma of external Ear|lipoma of the external Ear|external auditory meatus lipoma MONDO:0000972 gallbladder lipoma biolink:Disease mondo UMLS:C1333747|NCIT:C5835|DOID:10201 A benign adipose tissue neoplasm involving the gallbladder wall. UMLS:C1333747|DOID:10201|NCIT:C5835 http://purl.obolibrary.org/obo/MONDO_0000972 lipoma of gallbladder|lipoma of the gallbladder|gallbladder lipoma|lipoma of gall bladder|gall bladder lipoma MONDO:0009306 combined immunodeficiency with skin granulomas biolink:Disease mondo MESH:C567115|ICD10:D81.1|OMIM:233650|UMLS:C2673536|Orphanet:157949 UMLS:C2673536|ORPHA:157949|MESH:C567115|http://identifiers.org/omim/233650 http://purl.obolibrary.org/obo/MONDO_0009306 CCHIDG|combined immunodeficiency due to RAG 1/2 deficiency|Cid due to RAG 1/2 deficiency|combined cellular and humoral immune defects with granulomas|combined cellular and humoral immune defects with granulomas; CCHIDG ordo_disease MONDO:0009305 granulocytopenia with immunoglobulin abnormality biolink:Disease mondo UMLS:C1856263|OMIM:233600|MESH:C565535 MESH:C565535|http://identifiers.org/omim/233600|UMLS:C1856263 http://purl.obolibrary.org/obo/MONDO_0009305 granulocytopenia with immunoglobulin abnormality MONDO:0012957 multiple sclerosis, susceptibility to, 3 biolink:Disease mondo OMIM:612595 http://identifiers.org/omim/612595 http://purl.obolibrary.org/obo/MONDO_0012957 multiple sclerosis, susceptibility to, 3; MS3|MS3|multiple sclerosis, susceptibility to, 3 predisposition MONDO:0012958 multiple sclerosis, susceptibility to, 4 biolink:Disease mondo OMIM:612596 http://identifiers.org/omim/612596 http://purl.obolibrary.org/obo/MONDO_0012958 multiple sclerosis, susceptibility to, 4; MS4|MS4|multiple sclerosis, susceptibility to, 4 predisposition MONDO:0009304 obsolete Gorlin-Chaudhry-Moss syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009304 MONDO:0009303 anti-glomerular basement membrane disease biolink:Disease mondo MedDRA:10018620|ICD10:M31.0+|ICD10:N08.5*|GARD:0002551|DOID:9808|OMIM:233450|ICD9:446.21|NCIT:C84566|MESH:D019867|ICD10:M31.0|Orphanet:375|UMLS:C0403529|SCTID:236432001|EFO:0007290 Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. SNOMEDCT:236432001|UMLS:C0403529|MESH:D019867|NCIT:C84566|DOID:9808|http://identifiers.org/omim/233450|ORPHA:375|MEDDRA:10018620 http://purl.obolibrary.org/obo/MONDO_0009303 anti-GBM syndrome|anti-glomerular basement membrane disease|Goodpasture syndrome|anti-glomerular basement membrane antibody disease|rapidly progressive glomerulonephritis with pulmonary hemorrhage|pulmonary renal syndrome|glomerulonephritis - pulmonary hemorrhage ordo_disease|gard_rare MONDO:0012955 lung cancer susceptibility 4 biolink:Disease mondo UMLS:C2675479|OMIM:612593 http://identifiers.org/omim/612593|UMLS:C2675479 http://purl.obolibrary.org/obo/MONDO_0012955 lung cancer susceptibility 4; LNCR4|LNCR4|lung cancer susceptibility 4 predisposition MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome biolink:Disease mondo UMLS:C1856272|GARD:0002541|ICD10:Q99.1|OMIM:233430|Orphanet:1770|MESH:C565536 Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive. http://identifiers.org/omim/233430|UMLS:C1856272|ORPHA:1770|MESH:C565536 http://purl.obolibrary.org/obo/MONDO_0009302 gonadal dysgenesis, 10Y type, with associated anomalies|gonadal dysgenesis, XY type, with associated anomalies|gonadal dysgenesis XY type associated anomalies ordo_malformation_syndrome|gard_rare MONDO:0012956 multiple sclerosis, susceptibility to, 2 biolink:Disease mondo OMIM:612594 http://identifiers.org/omim/612594 http://purl.obolibrary.org/obo/MONDO_0012956 MS2|multiple sclerosis, susceptibility to, 2|multiple sclerosis, susceptibility to, 2; MS2 predisposition MONDO:0009301 46,XY sex reversal 7 biolink:Disease mondo MESH:C565537|OMIM:233420 http://identifiers.org/omim/233420|MESH:C565537 http://purl.obolibrary.org/obo/MONDO_0009301 46,XY Sex reversal, partial or complete, Dhh-related|46,XY gonadal dysgenesis, partial or complete, Dhh-related|46,XY sex reversal 7|46,XY SEX reversal 7; SRXY7|46,XY Sex reversal type 7|SRXY7|gonadal dysgenesis, XY, Male-limited MONDO:0009300 Perrault syndrome 1 biolink:Disease mondo OMIM:233400 Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene. http://identifiers.org/omim/233400 http://purl.obolibrary.org/obo/MONDO_0009300 Perrault syndrome caused by mutation in HSD17B4|ovarian dysgenesis with sensorineural deafness|Perrault syndrome type 1|gonadal dysgenesis, 20 type, with deafness|PRLTS1|Perrault syndrome 1|Perrault syndrome 1; PRLTS1|HSD17B4 Perrault syndrome MONDO:0012959 PSORS11 biolink:Disease mondo OMIM:612599 http://identifiers.org/omim/612599 http://purl.obolibrary.org/obo/MONDO_0012959 PSORS11|psoriasis 11, susceptibility to; PSORS11|psoriasis 11, susceptibility to MONDO:0012960 intellectual disability, autosomal dominant 5 biolink:Disease mondo GARD:0012558|DOID:0070035|MESH:C567234|UMLS:C2675473|OMIM:612621 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene. MESH:C567234|http://identifiers.org/omim/612621|UMLS:C2675473|DOID:0070035 http://purl.obolibrary.org/obo/MONDO_0012960 mental retardation, autosomal dominant 5|SYNGAP1-related NSID|mental retardation, autosomal dominant type 5|SYNGAP1 syndrome|mental retardation, autosomal dominant 5; MRD5|autosomal dominant intellectual disability 5|autosomal dominant mental retardation 5|SYNGAP1-related non-syndromic intellectual disability|MRD5|intellectual disability, autosomal dominant type 5|intellectual disability, autosomal dominant 5; MRD5|autosomal dominant non-syndromic intellectual disability 5|intellectual disability, autosomal dominant 5|autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1|SYNGAP1 autosomal dominant non-syndromic intellectual disability|SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism MONDO:0012961 type 1 diabetes mellitus 23 biolink:Disease mondo UMLS:C2675472|OMIM:612622|MESH:C567233|ICD10:E10|DOID:0110760 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27. MESH:C567233|http://identifiers.org/omim/612622|UMLS:C2675472|DOID:0110760 http://purl.obolibrary.org/obo/MONDO_0012961 diabetes mellitus, insulin-dependent, 23; IDDM23|diabetes mellitus, insulin-dependent, 23|insulin-dependent diabetes mellitus 23|IDDM23 MONDO:0010301 THCYTX biolink:Disease mondo OMIM:300331|UMLS:C1845888 http://identifiers.org/omim/300331|UMLS:C1845888 http://purl.obolibrary.org/obo/MONDO_0010301 thrombocythemia, X-linked|thrombocythemia, X-linked; THCYTX|thrombocytosis, X-linked|THCYTX MONDO:0012964 chromosome 15q26-qter deletion syndrome biolink:Disease mondo ICD10:Q93.5|DOID:0060397|MESH:C567232|SCTID:766050000|OMIM:612626|Orphanet:1596|UMLS:C2675463 Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. MESH:C567232|http://identifiers.org/omim/612626|ORPHA:1596|UMLS:C2675463|SNOMEDCT:766050000|DOID:0060397 http://purl.obolibrary.org/obo/MONDO_0012964 distal monosomy type 15q|Drayer syndrome|15q26 deletion syndrome|chromosome 15q26-qter deletion syndrome|distal 15q deletion syndrome|telomeric 15q deletion syndrome|monosomy 15q26|distal monosomy 15q ordo_malformation_syndrome GO:1905349 ciliary transition zone assembly biolink:OntologyClass mondo The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. http://purl.obolibrary.org/obo/GO_1905349 cilial transition zone assembly|ciliary transition zone formation|cilial transition zone formation|cilium transition zone assembly|cilium transition zone formation MONDO:0012965 BFIS4 biolink:Disease mondo OMIM:612627|UMLS:C2675462|MESH:C567231 MESH:C567231|http://identifiers.org/omim/612627|UMLS:C2675462 http://purl.obolibrary.org/obo/MONDO_0012965 seizures, benign familial infantile, 4; BFIS4|convulsions, benign familial infantile, 4|BFIS4|seizures, benign familial infantile, 4 MONDO:0010300 MRX53 biolink:Disease mondo UMLS:C1845889|OMIM:300324|MESH:C564533 UMLS:C1845889|MESH:C564533|http://identifiers.org/omim/300324 http://purl.obolibrary.org/obo/MONDO_0010300 MRX53|mental retardation, X-linked 53|intellectual disability, X-linked 53; MRX53|mental retardation, X-linked 53; MRX53|intellectual disability, X-linked 53 MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 biolink:Disease mondo OMIM:612623 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene. http://identifiers.org/omim/612623 http://purl.obolibrary.org/obo/MONDO_0012962 microvascular complications of diabetes, susceptibility caused by mutation in EPO|MVCD2|microvascular complications of diabetes, susceptibility to, type 2|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 2; MVCD2|microvascular complications of diabetes, susceptibility to, 2|EPO microvascular complications of diabetes, susceptibility|proliferative retinopathy, diabetic, susceptibility to predisposition MONDO:0010303 colobomatous microphthalmia biolink:Disease mondo UMLS:CN228419|ICD10:Q11.2|GARD:0003644|Orphanet:98938|MESH:C537463 Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. UMLS:CN228419|MESH:C537463|ORPHA:98938 http://purl.obolibrary.org/obo/MONDO_0010303 MCOPCB1|MAC|microphthalmia associated with colobomatous cyst|microphthalmia with colobomatous cyst|microphthalmia, isolated, with coloboma 1|microphthalmos bilateral, colobomatous orbital cyst|microphthalmia-anophthalmia-coloboma syndrome gard_rare|ordo_malformation_syndrome MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 biolink:Disease mondo OMIM:612624 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene. http://identifiers.org/omim/612624 http://purl.obolibrary.org/obo/MONDO_0012963 nephropathy, diabetic, susceptibility to|MVCD3|microvascular complications of diabetes, susceptibility caused by mutation in ACE|microvascular complications of diabetes, susceptibility to, type 3|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 3|microvascular complications of diabetes, susceptibility to, 3; MVCD3|ACE microvascular complications of diabetes, susceptibility predisposition MONDO:0010302 Ito hypomelanosis biolink:Disease mondo Orphanet:435|ICD10:Q87.8|DOID:3156|OMIM:300337|GARD:0002992 Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines. http://identifiers.org/omim/300337|ORPHA:435|DOID:3156 http://purl.obolibrary.org/obo/MONDO_0010302 hypomelanosis of Ito; HMI|Incontinentia pigmenti type 1|Incontinentia pigmenti achromians|IPA|HMI|Incontinentia pigmenti, type I, formerly|Ito|hi syndrome|Incontinentia pigmenti, type I|pigmentary mosaicism, Ito type|hypomelanosis of Ito|Ito hypomelanosis|Incontinentia pigmenti type 1 (formerly) ordo_disease MONDO:0024935 foot rot biolink:Disease mondo UMLS:C0016513|MESH:D005535 A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed) MESH:D005535|UMLS:C0016513 http://purl.obolibrary.org/obo/MONDO_0024935 foot Rots|Rots, foot|rot, foot MONDO:0000968 kidney lipoma biolink:Disease mondo DOID:10194|NCIT:C5101|UMLS:C1335744 A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. DOID:10194|UMLS:C1335744|NCIT:C5101 http://purl.obolibrary.org/obo/MONDO_0000968 kidney lipoma|renal lipoma|lipoma of kidney|lipoma of the kidney MONDO:0000967 conventional lipoma biolink:Disease mondo NCIT:C27530|DOID:10193|UMLS:C1333059 A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. DOID:10193|UMLS:C1333059|NCIT:C27530 http://purl.obolibrary.org/obo/MONDO_0000967 classic type lipoma|conventional lipoma MONDO:0024934 fish disease biolink:Disease mondo MESH:D005393|UMLS:C0016154 Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates). UMLS:C0016154|MESH:D005393 http://purl.obolibrary.org/obo/MONDO_0024934 fish disease|disease, fish|diseases, fish MONDO:0000966 pleomorphic lipoma biolink:Disease mondo ICDO:8854/0|UMLS:C0205823|NCIT:C3703|DOID:10192|SCTID:404059000 A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei. DOID:10192|SNOMEDCT:404059000|NCIT:C3703|UMLS:C0205823 http://purl.obolibrary.org/obo/MONDO_0000966 pleomorphic lipoma|pleomorphic lipoma (morphologic abnormality) MONDO:0000965 liver lipoma biolink:Disease mondo NCIT:C5750|DOID:10190|UMLS:C1333970 A rare benign adipose tissue neoplasm of the liver. NCIT:C5750|UMLS:C1333970|DOID:10190 http://purl.obolibrary.org/obo/MONDO_0000965 lipoma of the liver|liver lipoma|hepatic lipoma|lipoma of liver MONDO:0000969 pleural lipoma biolink:Disease mondo SCTID:2460001000004103|UMLS:C1335434|DOID:10195|NCIT:C6644 A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall. DOID:10195|UMLS:C1335434|SNOMEDCT:2460001000004103|NCIT:C6644 http://purl.obolibrary.org/obo/MONDO_0000969 pleura lipoma|pleural lipoma|lipoma of pleura|lipoma of the pleura MONDO:0000982 obsolete Brown's tendon sheath syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000982 MONDO:0000981 Histoplasma pericarditis biolink:Disease mondo SCTID:187059008|DOID:10234|UMLS:C0153279|ICD9:115.93 An pericarditis (disease) caused by infection with Histoplasma. SNOMEDCT:187059008|UMLS:C0153279|DOID:10234 http://purl.obolibrary.org/obo/MONDO_0000981 histoplasmosis pericarditis|acute Histoplasma pericarditis|histoplasmosis with pericarditis|Histoplasma caused pericarditis (disease)|Histoplasma pericarditis (disease) MONDO:0000980 aortic atherosclerosis (disease) biolink:Disease mondo ICD9:440.0|SCTID:81817003|ICD10:I70.0|HP:0012397|DOID:10230|UMLS:C0155733 A atherosclerosis that involves the aorta. UMLS:C0155733|DOID:10230|SNOMEDCT:81817003 http://purl.obolibrary.org/obo/MONDO_0000980 aortic atherosclerosis|aorta atherosclerosis|atherosclerosis of aorta MONDO:0000986 pleurisy biolink:Disease mondo ICD9:511.8|SCTID:196075003|NCIT:C26860|UMLS:C0032231|COHD:78786|DOID:10247|MESH:D010998|EFO:1001825|ICD10:R09.1 Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom. MESH:D010998|DOID:10247|NCIT:C26860|SNOMEDCT:196075003|UMLS:C0032231 http://purl.obolibrary.org/obo/MONDO_0000986 pleura inflammation|inflammation of pleura|pleuritis MONDO:0009319 pantothenate kinase-associated neurodegeneration biolink:Disease mondo DOID:3981|UMLS:C0018523|Orphanet:157850|OMIM:234200|ICD9:333.0|GARD:0006564|MESH:D006211|ICD10:G23.0|SCTID:2992000|NCIT:C84988 Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system. SNOMEDCT:2992000|MESH:D006211|DOID:3981|UMLS:C0018523|ORPHA:157850|http://identifiers.org/omim/234200|NCIT:C84988 http://purl.obolibrary.org/obo/MONDO_0009319 neuroaxonal dystrophy, late infantile|pigmentary pallidal degeneration|pantothenate kinase-associated neurodegeneration|NBIA1|neurodegeneration with brain iron accumulation type 1|neurodegeneration with brain iron accumulation 1|PKAN|Hallervorden-Spatz syndrome|brain iron accumulation type I syndrome|Hallervorden-Spatz disease|neurodegeneration with brain iron accumulation 1; NBIA1|Pkan neuroaxonal dystrophy, juvenile-onset ordo_disease MONDO:0000985 obsolete ehrlichiosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000985 MONDO:0009318 Hallermann-Streiff syndrome biolink:Disease mondo GARD:0000288|Orphanet:2108|ICD10:Q87.0|SCTID:7903009|OMIM:234100|UMLS:C0018522|NCIT:C84746|MESH:D006210|DOID:4534 Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. MESH:D006210|UMLS:C0018522|http://identifiers.org/omim/234100|NCIT:C84746|SNOMEDCT:7903009|ORPHA:2108|DOID:4534 http://purl.obolibrary.org/obo/MONDO_0009318 oculomandibulofacial syndrome|Hallermann-Streiff syndrome; HSS|Hallermann Streiff syndrome|Hallermann Streiff Francois syndrome|Hallermann's syndrome|Hallerman - Streiff syndrome|Hallermann syndrome|Hallermann-Streiff syndrome|François dyscephalic syndrome|FranC'ois dyscephalic syndrome|Francois dyscephalic syndrome|HSS ordo_malformation_syndrome|gard_rare MONDO:0000984 thalassemia biolink:Disease mondo EFO:1001996|MESH:D013789|UMLS:C0039730|ICD9:282.4|ICD9:282.40|NCIT:C35069|ICD9:282.49|SCTID:40108008|ICD10:D56|GARD:0007756|DOID:10241|ICD10:D56.9|COHD:30978 An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. NCIT:C35069|UMLS:C0039730|MESH:D013789|DOID:10241|SNOMEDCT:40108008 http://purl.obolibrary.org/obo/MONDO_0000984 sickle-cell thalassemia with crisis|thalassemia Hb-S disease with crisis|sickle-cell thalassemia without crisis|thalassemia Hb-S disease without crisis MONDO:0000983 exhibitionism biolink:Disease mondo ICD10:F65.2|DOID:10236|SCTID:58349009|MESH:D005084|NCIT:C94352|ICD9:302.4 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. SNOMEDCT:58349009|MESH:D005084|DOID:10236|NCIT:C94352 http://purl.obolibrary.org/obo/MONDO_0000983 MONDO:0009317 nonphotosensitive trichothiodystrophy biolink:Disease mondo Orphanet:1245 A trichothiodystrophy that is non-photosensitive ORPHA:1245 http://purl.obolibrary.org/obo/MONDO_0009317 MONDO:0012946 intellectual disability, autosomal dominant 3 biolink:Disease mondo MESH:C567241|UMLS:C2675488|DOID:0070033|OMIM:612580 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene. DOID:0070033|MESH:C567241|http://identifiers.org/omim/612580|UMLS:C2675488 http://purl.obolibrary.org/obo/MONDO_0012946 autosomal dominant non-syndromic intellectual disability 3|mental retardation, autosomal dominant 3|mental retardation, autosomal dominant type 3|mental retardation, autosomal dominant 3; MRD3|MRD3|intellectual disability, autosomal dominant type 3|autosomal dominant intellectual disability 3|autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15|intellectual disability, autosomal dominant 3|intellectual disability, autosomal dominant 3; MRD3|CDH15 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 3 MONDO:0009316 hair defect-photosensitivity-intellectual disability syndrome biolink:Disease mondo Orphanet:1408|GARD:0002582|MESH:C537628|OMIM:234030 Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration. http://identifiers.org/omim/234030|UMLS:C1856241|ORPHA:1408|MESH:C537628 http://purl.obolibrary.org/obo/MONDO_0009316 kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation|hair defect with photosensitivity and mental retardation|Calderon Gonzalez-Cantu syndrome|hair defect with photosensitivity and intellectual disability|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability|Calderón-González-Cantu syndrome ordo_malformation_syndrome MONDO:0009315 congenital factor XII deficiency biolink:Disease mondo SCTID:46981006|MESH:D005175|DOID:2231|NCIT:C131740|UMLS:C0015526|ICD9:286.3|ICD10:D68.2|Orphanet:330|OMIM:234000|GARD:0006558 Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. DOID:2231|MESH:D005175|NCIT:C131740|SNOMEDCT:46981006|http://identifiers.org/omim/234000|UMLS:C0015526|ORPHA:330 http://purl.obolibrary.org/obo/MONDO_0009315 F12 deficiency|factor XII deficiency|congenital Hageman factor deficiency|deficiency, Hageman|coagulation factor 12 deficiency|Haf deficiency|Hageman Factor deficiency|factor 12 deficiency|factor XII deficiency disease ordo_disease|gard_rare MONDO:0012947 intellectual disability, autosomal dominant 4 biolink:Disease mondo MESH:C567240|UMLS:C2675487|DOID:0070034|OMIM:612581 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene. DOID:0070034|MESH:C567240|http://identifiers.org/omim/612581|UMLS:C2675487 http://purl.obolibrary.org/obo/MONDO_0012947 mental retardation, autosomal dominant type 4|autosomal dominant non-syndromic intellectual disability 4|mental retardation, autosomal dominant 4; MRD4|MRD4|autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3|intellectual disability, autosomal dominant type 4|autosomal dominant intellectual disability 4|intellectual disability, autosomal dominant 4|intellectual disability, autosomal dominant 4; MRD4|autosomal dominant mental retardation 4|mental retardation, autosomal dominant 4|KIRREL3 autosomal dominant non-syndromic intellectual disability MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome biolink:Disease mondo UMLS:C2675492|OMIM:612576|MESH:C567245 MESH:C567245|http://identifiers.org/omim/612576|UMLS:C2675492 http://purl.obolibrary.org/obo/MONDO_0012944 chromosome 17P13.3, telomeric, duplication syndrome|split-hand/foot malformation with long bone deficiency 3 MONDO:0009314 obsolete GTP-cyclohydrolase I deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009314 MONDO:0012945 amyotrophic lateral sclerosis type 11 biolink:Disease mondo OMIM:612577|UMLS:C2675491|DOID:0060202|GARD:0010496|MESH:C567244 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene. MESH:C567244|http://identifiers.org/omim/612577|UMLS:C2675491|DOID:0060202 http://purl.obolibrary.org/obo/MONDO_0012945 amyotrophic lateral sclerosis caused by mutation in FIG4|amyotrophic lateral sclerosis 11; ALS11|amyotrophic lateral sclerosis type 11|ALS11|amyotrophic lateral sclerosis 11|FIG4 amyotrophic lateral sclerosis gard_rare MONDO:0009313 Grubben-de Cock-Borghgraef syndrome biolink:Disease mondo UMLS:C2931551|MESH:C537621|Orphanet:2101|ICD10:Q87.8|GARD:0002576|OMIM:233810 Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients. UMLS:C2931551|ORPHA:2101|http://identifiers.org/omim/233810|MESH:C537621 http://purl.obolibrary.org/obo/MONDO_0009313 severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin|growth retardation, small and puffy hands and feet, and eczema|developmental delay-hypotonia-extremities hypertrophy syndrome|developmental delay - hypotonia - extremities hypertrophy|Grubben de Cock Borghgraef syndrome gard_rare|ordo_malformation_syndrome MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency biolink:Disease mondo SCTID:724176001|GARD:0012604|MESH:C565529|UMLS:C2931279|Orphanet:1979|OMIM:233805|ICD10:E88.1|GARD:0004280 Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). SNOMEDCT:724176001|UMLS:C2931279|http://identifiers.org/omim/233805|ORPHA:1979|MESH:C565529 http://purl.obolibrary.org/obo/MONDO_0009312 combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency|Werner-like syndrome due to combined Growth Factor deficiency|growth factors, combined defect OF|peptide growth factors deficiency|Werner-like syndrome due to combined growth factor deficiency|peptidic growth factors deficiency|Hoepffner Dreyer Reimers syndrome|Hoepffner-Dreyer-Reimers syndrome|insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency ordo_disease MONDO:0009311 grouped pigmentation of the retina biolink:Disease mondo UMLS:C1856244|OMIM:233800|MESH:C565530 UMLS:C1856244|http://identifiers.org/omim/233800|MESH:C565530 http://purl.obolibrary.org/obo/MONDO_0009311 grouped pigmentation of the retina|grouped pigmentation of retinal pigment epithelium|grouped pigmentation of the macula MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 biolink:Disease mondo DOID:0070191|OMIM:233710|MESH:C565531|UMLS:C1856245 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene. DOID:0070191|http://identifiers.org/omim/233710|UMLS:C1856245|MESH:C565531 http://purl.obolibrary.org/obo/MONDO_0009310 chronic granulomatous disease caused by mutation in NCF2|Ncf2, deficiency of|neutrophil cytosol Factor 2, deficiency of|CGD, autosomal recessive cytochrome B-positive, type 2|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II; CDG2|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II|P67-PHOX, deficiency of|granulomatous disease, chronic, due to Ncf2 deficiency|NCF2 chronic granulomatous disease|CDG2 MONDO:0012948 chromosome 6pter-p24 deletion syndrome biolink:Disease mondo ICD10:Q93.5|MESH:C567239|DOID:0060422|OMIM:612582|SCTID:718688008|UMLS:C4305276|Orphanet:96125|UMLS:C2675486 Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. SNOMEDCT:718688008|DOID:0060422|MESH:C567239|UMLS:C4305276|http://identifiers.org/omim/612582|UMLS:C2675486|ORPHA:96125 http://purl.obolibrary.org/obo/MONDO_0012948 distal deletion 6p|chromosome 6pter-p24 deletion syndrome|6p subtelomeric deletion syndrome|monosomy 6p25|6p25 microdeletion syndrome|distal monosomy type 6p|distal monosomy 6p ordo_malformation_syndrome MONDO:0012949 ANIB9 biolink:Disease mondo UMLS:C2675485|MESH:C567238|OMIM:612586 MESH:C567238|http://identifiers.org/omim/612586|UMLS:C2675485 http://purl.obolibrary.org/obo/MONDO_0012949 aneurysm, intracranial BERRY, 9|aneurysm, intracranial BERRY, 9; ANIB9|ANIB9 MONDO:0012950 ANIB10 biolink:Disease mondo MESH:C567237|OMIM:612587|UMLS:C2675484 MESH:C567237|http://identifiers.org/omim/612587|UMLS:C2675484 http://purl.obolibrary.org/obo/MONDO_0012950 ANIB10|aneurysm, intracranial BERRY, 10; ANIB10|aneurysm, intracranial BERRY, 10 MONDO:0012953 colorectal cancer, susceptibility to, 10 biolink:Disease mondo OMIM:612591 Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. http://identifiers.org/omim/612591 http://purl.obolibrary.org/obo/MONDO_0012953 colorectal cancer caused by mutation in POLD1|colorectal cancer, susceptibility to, on chromosome 19Q|colorectal cancer, susceptibility to, type 10|colorectal cancer, susceptibility to, 10; CRCS10|CRCS10|susceptibility to colorectal cancer 10|colorectal cancer, susceptibility to, 10|POLD1 colorectal cancer predisposition MONDO:0012954 colorectal cancer, susceptibility to, 11 biolink:Disease mondo OMIM:612592 http://identifiers.org/omim/612592 http://purl.obolibrary.org/obo/MONDO_0012954 colorectal cancer, susceptibility to, 11|CRCS11|colorectal cancer, susceptibility to, 11; CRCS11|colorectal cancer, susceptibility to, on chromosome 20P predisposition MONDO:0012951 CRCS8 biolink:Disease mondo OMIM:612589 http://identifiers.org/omim/612589 http://purl.obolibrary.org/obo/MONDO_0012951 CRCS8|colorectal cancer, susceptibility to, 8; CRCS8|colorectal cancer, susceptibility to, on chromosome 14Q|colorectal cancer, susceptibility to, 8 predisposition MONDO:0012952 CRCS9 biolink:Disease mondo OMIM:612590 http://identifiers.org/omim/612590 http://purl.obolibrary.org/obo/MONDO_0012952 colorectal cancer, susceptibility to, 9|CRCS9|colorectal cancer, susceptibility to, 9; CRCS9|colorectal cancer, susceptibility to, on chromosome 16Q predisposition MONDO:0000979 pinta disease biolink:Disease mondo UMLS:C0031946|ICD9:103|NCIT:C85011|ICD9:103.9|GARD:0007397|ICD10:A67.3|ICD10:A67.2|SCTID:22064009|ICD10:A67.1|ICD10:A67.0|ICD10:A67|EFO:1001396|ICD9:103.3|DOID:1022|ICD9:103.2|ICD9:103.1|ICD10:A67.9|ICD9:103.0|MESH:D010874 An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes. UMLS:C0031946|SNOMEDCT:22064009|DOID:1022|NCIT:C85011|MESH:D010874 http://purl.obolibrary.org/obo/MONDO_0000979 endemic treponematosis caused by Treponema carateum|Mal del pinto|Empeines|Azul|Lota|Carate|infection by Treponema carateum|pinta|Tina MONDO:0000978 extrahepatic bile duct lipoma biolink:Disease mondo NCIT:C5854|DOID:10209|UMLS:C1333509 A rare benign adipose tissue neoplasm of the extrahepatic bile duct. NCIT:C5854|UMLS:C1333509|DOID:10209 http://purl.obolibrary.org/obo/MONDO_0000978 lipoma of the extrahepatic bile duct|lipoma of extrahepatic bile duct|extrahepatic bile duct lipoma MONDO:0000977 chondroid lipoma biolink:Disease mondo UMLS:C1266131|DOID:10208|SCTID:404065000|NCIT:C6503|ICDO:8862/0 A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females. UMLS:C1266131|NCIT:C6503|DOID:10208|SNOMEDCT:404065000 http://purl.obolibrary.org/obo/MONDO_0000977 MONDO:0000976 paratesticular lipoma biolink:Disease mondo UMLS:C1335348|DOID:10207|NCIT:C6384 A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range. NCIT:C6384|DOID:10207|UMLS:C1335348 http://purl.obolibrary.org/obo/MONDO_0000976 paratesticular lipoma GO:2000348 regulation of CD40 signaling pathway biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of signaling via the CD40 signaling pathway. http://purl.obolibrary.org/obo/GO_2000348 regulation of CD40 signalling pathway GO:2000349 negative regulation of CD40 signaling pathway biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of signaling via the CD40 signaling pathway. http://purl.obolibrary.org/obo/GO_2000349 negative regulation of CD40 signalling pathway CHEBI:28044 phenylalanine biolink:ChemicalSubstance mondo An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group. http://purl.obolibrary.org/obo/CHEBI_28044 Phenylalanine|phenylalanine|F|fenilalanina|alpha-Amino-beta-phenylpropionic acid|Phenylalanin|2-amino-3-phenylpropanoic acid|DL-Phenylalanine|PHE HP:0001288 Gait disturbance biolink:PhenotypicFeature mondo SNOMEDCT_US:22325002|UMLS:C0575081 The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. http://purl.obolibrary.org/obo/HP_0001288 Abnormal walk|Gait abnormalities|Abnormal gait|Gait difficulties|Gait disturbances|Impaired gait HP:0001289 Confusion biolink:PhenotypicFeature mondo MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676 Lack of clarity and coherence of thought, perception, understanding, or action. http://purl.obolibrary.org/obo/HP_0001289 Confusion|Disorientation|Easily confused|Mental disorientation HP:0001287 Meningitis biolink:PhenotypicFeature mondo UMLS:C0025289|MSH:D008581|SNOMEDCT_US:7180009 Inflammation of the meninges. http://purl.obolibrary.org/obo/HP_0001287 NCBITaxon:1489388 Euteleosteomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1489388 CHEBI:53000 epitope biolink:ChemicalSubstance mondo The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds. http://purl.obolibrary.org/obo/CHEBI_53000 antigenic determinant|epitope function|epitope role CHEBI:65001 EC 3.1.1.3 (triacylglycerol lipase) inhibitor biolink:ChemicalSubstance mondo Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of triacylglycerol lipase (EC 3.1.1.3). http://purl.obolibrary.org/obo/CHEBI_65001 pancreatic lipase inhibitor|GEH inhibitor|salt-resistant post-heparin lipase inhibitor|triglyceride hydrolase inhibitor|liver lipase inhibitor|steapsin inhibitors|glycerol-ester hydrolase inhibitors|triolein hydrolase inhibitor|Tweenase inhibitor|cacordase inhibitors|triacylglycerol lipase inhibitors|Tweenase inhibitors|cacordase inhibitor|triacylglycerol lipase inhibitor|glycerol-ester hydrolase inhibitor|tween-hydrolysing esterase inhibitor|triolein hydrolase inhibitors|steapsin inhibitor|GEH inhibitors|triglyceride hydrolase inhibitors|liver lipase inhibitors|salt-resistant post-heparin lipase inhibitors|pancreatic lipase inhibitors|tributyrase inhibitor|butyrinase inhibitor|Tweenesterase inhibitors|hepatic monoacylglycerol acyltransferase inhibitor|tributyrin esterase inhibitors|EC 3.1.1.3 inhibitors|PPL inhibitors|triacylglycerol ester hydrolase inhibitor|glycerol ester hydrolase inhibitor|post-heparin plasma protamine-resistant lipase inhibitors|Tween hydrolase inhibitor|triglyceride lipase inhibitors|capalase L inhibitor|triacetinase inhibitor|tween-hydrolyzing esterase inhibitors|EC 3.1.1.3 (triacylglycerol lipase) inhibitors|pancreatic triacylglycerol lipase inhibitor|heparin releasable hepatic lipase inhibitor|triglyceridase inhibitor|triacylglycerol lipase (EC 3.1.1.3) inhibitors|lipazin inhibitor|hepatic lipase inhibitor|tributyrinase inhibitors|lipase inhibitor|hepatic lipase inhibitors|lipase inhibitors|tributyrinase inhibitor|lipazin inhibitors|pancreatic triacylglycerol lipase inhibitors|heparin releasable hepatic lipase inhibitors|triglyceridase inhibitors|triacylglycerol lipase (EC 3.1.1.3) inhibitor|post-heparin plasma protamine-resistant lipase inhibitor|triglyceride lipase inhibitor|triacetinase inhibitors|Tween hydrolase inhibitors|capalase L inhibitors|triacylglycerol ester hydrolase inhibitors|PPL inhibitor|EC 3.1.1.3 inhibitor|tributyrin esterase inhibitor|glycerol ester hydrolase inhibitors|butyrinase inhibitors|Tweenesterase inhibitor|tributyrase inhibitors|hepatic monoacylglycerol acyltransferase inhibitors GO:2000350 positive regulation of CD40 signaling pathway biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of signaling via the CD40 signaling pathway. http://purl.obolibrary.org/obo/GO_2000350 positive regulation of CD40 signalling pathway HP:0001297 Stroke biolink:PhenotypicFeature mondo UMLS:C0038454|SNOMEDCT_US:230690007|MSH:D020521 Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. http://purl.obolibrary.org/obo/HP_0001297 Cerebrovascular accidents|Cerebral vascular events|Cerebrovascular accident|Stroke UBERON_CORE:subdivision_of subdivision of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/uberon/core#subdivision_of HP:0001298 Encephalopathy biolink:PhenotypicFeature mondo MSH:D001927|SNOMEDCT_US:81308009|UMLS:C0085584 Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. http://purl.obolibrary.org/obo/HP_0001298 CHEBI:16042 halide anion biolink:ChemicalSubstance mondo A monoatomic monoanion resulting from the addition of an electron to any halogen atom. http://purl.obolibrary.org/obo/CHEBI_16042 halide(1-)|halides|halide ions|Halide|a halide anion|halide anions|HX|halogen anion CHEBI:28024 cyanic acid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_28024 hydrogen nitridooxocarbonate|Zyansaeure|[C(N)OH]|Cyanic acid|Cyansaeure|HOCN|hydroxidonitridocarbon|nitridooxocarbonic acid HP:0025234 Parasomnia biolink:PhenotypicFeature mondo An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep. http://purl.obolibrary.org/obo/HP_0025234 HP:0001268 Mental deterioration biolink:PhenotypicFeature mondo MSH:D060825|UMLS:C0234985 Loss of previously present mental abilities, generally in adults. http://purl.obolibrary.org/obo/HP_0001268 Progressive cognitive decline|Intellectual deterioration|Cognitive decline, progressive|Mental deterioration|Cognitive decline HP:0001269 Hemiparesis biolink:PhenotypicFeature mondo SNOMEDCT_US:127377003|UMLS:C0018989|MSH:D010291|SNOMEDCT_US:20022000 Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. http://purl.obolibrary.org/obo/HP_0001269 Weakness of one side of body HP:0001262 Excessive daytime somnolence biolink:PhenotypicFeature mondo SNOMEDCT_US:79519003|UMLS:C2830004|SNOMEDCT_US:271782001 A state of abnormally strong desire for sleep during the daytime. http://purl.obolibrary.org/obo/HP_0001262 More than typical sleepiness during day|Excessive daytime sleepiness HP:0001260 Dysarthria biolink:PhenotypicFeature mondo MSH:D004401|SNOMEDCT_US:8011004|UMLS:C0013362 Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. http://purl.obolibrary.org/obo/HP_0001260 Difficulty articulating speech|Dysarthric speech GO:0004509 steroid 21-monooxygenase activity biolink:OntologyClass mondo Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O. http://purl.obolibrary.org/obo/GO_0004509 cytochrome p450 XXIA1 activity|steroid,hydrogen-donor:oxygen oxidoreductase (21-hydroxylating)|cytochrome P450 CYP21A1|steroid 21-hydroxylase activity|21-hydroxylase activity HP:0001276 Hypertonia biolink:PhenotypicFeature mondo SNOMEDCT_US:41581000|MSH:D009122|SNOMEDCT_US:56731001|UMLS:C0026826 A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. http://purl.obolibrary.org/obo/HP_0001276 Spasticity and rigidity of muscles|Hypertonicity|Muscle hypertonia|Increased muscle tone HP:0001279 Syncope biolink:PhenotypicFeature mondo SNOMEDCT_US:272030005|SNOMEDCT_US:271594007|MSH:D013575|UMLS:C0039070|SNOMEDCT_US:309585006 Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. http://purl.obolibrary.org/obo/HP_0001279 Fainting spell HP:0001273 Abnormal corpus callosum morphology biolink:PhenotypicFeature mondo UMLS:C1842581 Abnormality of the corpus callosum. http://purl.obolibrary.org/obo/HP_0001273 Abnormal corpus callosum|Corpus callosum abnormality|Abnormality of the corpus callosum HGNC:4401 GNB5 biolink:OntologyClass mondo http://identifiers.org/hgnc/4401 HP:0001274 Agenesis of corpus callosum biolink:PhenotypicFeature mondo Fyler:4321|UMLS:C0175754|SNOMEDCT_US:5102002|MSH:D061085 Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. http://purl.obolibrary.org/obo/HP_0001274 Absence of corpus callosum|Absent corpus callosum|Callosal agenesis|Dysplastic or absent corpus callosum|Corpus callosum agenesis|Agenesis of the corpus callosum HGNC:4400 GNB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4400 NCBITaxon:451870 Chaetothyriomycetidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_451870 NCBITaxon:451871 Eurotiomycetidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_451871 UBERON:0006003 integumentary adnexa biolink:AnatomicalEntity mondo Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. http://purl.obolibrary.org/obo/UBERON_0006003 skin adnexa|skin appendage|body hair or bristle|adnexae cutis|skin adnexal structure UBERON:0006002 vitelline artery biolink:AnatomicalEntity mondo The paired arteries that carry blood to the yolk sac from the dorsal aorta http://purl.obolibrary.org/obo/UBERON_0006002 HGNC:4416 GNPAT biolink:OntologyClass mondo http://identifiers.org/hgnc/4416 CHEBI:16015 L-glutamic acid biolink:ChemicalSubstance mondo An optically active form of glutamic acid having L-configuration. http://purl.obolibrary.org/obo/CHEBI_16015 (S)-glutamic acid|GLUTAMIC ACID|glutamic acid|Glutamate|(S)-2-aminopentanedioic acid|acide glutamique|Glu|L-Glu|L-Glutaminic acid|acidum glutamicum|L-glutamic acid|acido glutamico|L-Glutamic acid|L-Glutaminsaeure|(2S)-2-aminopentanedioic acid|E HGNC:4415 GNMT biolink:OntologyClass mondo http://identifiers.org/hgnc/4415 UBERON:0006009 cusp of cardiac valve biolink:AnatomicalEntity mondo The part of the heart valves that serves to seal the heart valves when closed. There are three cusps for each valve except for the mitral valve, which has only two (hence its alternate name, 'bicuspid valve'). 'Nodules' are located at the tip of the valve, to form a tighter seal[WP]. http://purl.obolibrary.org/obo/UBERON_0006009 cardiac valvule|cardiac valve cusp|semilunar valvule|cardiac valvular cusp|cardial valve cusp UBERON:0006008 fibrous ring of heart biolink:AnatomicalEntity mondo A ring of ribrous tissue that surrounds the atrioventricular and arterial orifices http://purl.obolibrary.org/obo/UBERON_0006008 annulus fibrosus cordis|fibrous ring of heart|atrioventricular ring|anulus fibrosus cordis|coronary tendon|Lower's ring|aortic annulus|anulus fibrosus of heart NCBITaxon:451864 Dikarya organism taxon mondo PMID:17572334|PMID:16151185|PMID:17051209|GC_ID:1|PMID:15689432|PMID:17010206 http://purl.obolibrary.org/obo/NCBITaxon_451864 HGNC:4419 GNRH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4419 OBO:CP_0000043 cartwheel heterochromatin biolink:Cell mondo Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/CP_0000043 NCBITaxon:451866 Taphrinomycotina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_451866 NCBITaxon:451867 Dothideomycetidae organism taxon mondo GC_ID:1|PMID:17486979 http://purl.obolibrary.org/obo/NCBITaxon_451867 NCBITaxon:451868 Pleosporomycetidae organism taxon mondo GC_ID:1|PMID:17486979 http://purl.obolibrary.org/obo/NCBITaxon_451868 GO:2000310 regulation of NMDA receptor activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity. http://purl.obolibrary.org/obo/GO_2000310 regulation of N-methyl-D-aspartate selective glutamate receptor activity HGNC:4422 GNS biolink:OntologyClass mondo http://identifiers.org/hgnc/4422 HGNC:4421 GNRHR biolink:OntologyClass mondo http://identifiers.org/hgnc/4421 NCBITaxon:147573 Piedraia hortae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147573 NCBITaxon:147571 Piedraiaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147571 NCBITaxon:147572 Piedraia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147572 HGNC:4428 GOLGA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/4428 NCBITaxon:206351 Neisseriales organism taxon mondo PMID:23575986|GC_ID:11|PMID:16403855 http://purl.obolibrary.org/obo/NCBITaxon_206351 HP:0025278 Cold-induced sweating biolink:PhenotypicFeature mondo Sweating provoked by cold temperature rather than by heat. http://purl.obolibrary.org/obo/HP_0025278 OBO:CP_0000037 increased nucleus size biolink:Cell mondo A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. http://purl.obolibrary.org/obo/CP_0000037 HP:0025270 Abnormality of esophagus physiology biolink:PhenotypicFeature mondo Any physiological abnormality of the esophagus. http://purl.obolibrary.org/obo/HP_0025270 Abnormality of oesophagus physiology|Functional abnormality of the esophagus OBO:CP_0000035 polychromatophilic cytoplasm biolink:Cell mondo Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/CP_0000035 HGNC:4431 GOSR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4431 HP:0025276 Abnormality of skin adnexa physiology biolink:PhenotypicFeature mondo Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. http://purl.obolibrary.org/obo/HP_0025276 HGNC:4439 GP1BA biolink:OntologyClass mondo http://identifiers.org/hgnc/4439 HGNC:4440 GP1BB biolink:OntologyClass mondo http://identifiers.org/hgnc/4440 OBO:CP_0000027 acidophilic cytoplasm biolink:Cell mondo Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/CP_0000027 eosinophilic NCBITaxon:147553 Pneumocystidomycetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147553 Archiascomycota HGNC:4446 GPAA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4446 HGNC:4444 GP9 biolink:OntologyClass mondo http://identifiers.org/hgnc/4444 OBO:CP_0000028 basophilic cytoplasm biolink:Cell mondo Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/CP_0000028 NCBITaxon:147550 Sordariomycetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147550 NCBITaxon:147545 Eurotiomycetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147545 Plectomycetes|Loculoascomycetes|bitunicate ascomycetes FOODON:03510136 food consumer group biolink:OntologyClass mondo A food consumer group is a class of organism based on their heterotrophic requirements or preferences. http://purl.obolibrary.org/obo/FOODON_03510136 OBO:CP_0000000 neutrophillic cytoplasm biolink:Cell mondo Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/CP_0000000 NCBITaxon:147541 Dothideomycetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147541 Loculoascomycetes|bitunicate ascomycetes GO:0016595 glutamate binding biolink:OntologyClass mondo Interacting selectively and non-covalently with glutamate, the anion of 2-aminopentanedioic acid. http://purl.obolibrary.org/obo/GO_0016595 glutamic acid binding GO:0016597 amino acid binding biolink:OntologyClass mondo Interacting selectively and non-covalently with an amino acid, organic acids containing one or more amino substituents. http://purl.obolibrary.org/obo/GO_0016597 NCBITaxon:147537 Saccharomycotina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147537 true yeasts NCBITaxon:147538 Pezizomycotina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_147538 Euascomycota MONDO:0022397 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene biolink:Disease mondo Orphanet:156168 ORPHA:156168 http://purl.obolibrary.org/obo/MONDO_0022397 ordo_group_of_disorders MONDO:0022398 aglossia and situs inversus biolink:Disease mondo GARD:0009211 A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs. http://purl.obolibrary.org/obo/MONDO_0022398 gard_rare MONDO:0022399 retinal ciliopathy due to mutation in the rpgr gene biolink:Disease mondo Orphanet:156171 ORPHA:156171 http://purl.obolibrary.org/obo/MONDO_0022399 ordo_group_of_disorders MONDO:0022394 cervical intraepithelial neoplasia biolink:Disease mondo UMLS:C0206708|MEDGEN:60214|SCTID:285636001|GARD:0009244 SNOMEDCT:285636001|UMLS:C0206708 http://purl.obolibrary.org/obo/MONDO_0022394 Neoplasms, Cervical Intraepithelial|Intraepithelial Neoplasms, Cervical|Cervix Intraepithelial Neoplasia|Cervical Intraepithelial Neoplasm|Cervical Intraepithelial Neoplasia|Cervical intraepithelial neoplasia|Cervical Intraepithelial Neoplasms|Cervix Uteri Intraepithelial Neoplasia|NEOPL CERVICAL INTRAEPITHELIAL|Neoplasm, Cervical Intraepithelial|Uterine Cervix Intraepithelial Neoplasia|Intraepithelial Neoplasm, Cervical|Intraepithelial Neoplasia of Cervix|Intraepithelial Neoplasia of the Cervix|Intraepithelial Neoplasia of Cervix Uteri|Intraepithelial Neoplasia of the Cervix Uteri|Intraepithelial Neoplasia of Uterine Cervix|Intraepithelial Neoplasia of the Uterine Cervix|Intraepithelial Neoplasia, Cervical|Neoplasia, Cervical Intraepithelial|Cervical Dysplasia gard_rare GO:0004565 beta-galactosidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides. http://purl.obolibrary.org/obo/GO_0004565 S 2107|sumiklat|exo-(1->4)-beta-D-galactanase activity|beta-D-galactanase activity|beta-lactosidase activity|trilactase activity|maxilact|oryzatym|beta-D-galactoside galactohydrolase activity|beta-D-lactosidase activity|hydrolact|lactozym|lactose hydrolysis GO:0004566 beta-glucuronidase activity biolink:OntologyClass mondo Catalysis of the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate. http://purl.obolibrary.org/obo/GO_0004566 ketodase activity|exo-beta-D-glucuronidase activity|beta-glucuronide glucuronohydrolase activity|glucuronidase activity|beta-D-glucuronoside glucuronosohydrolase activity GO:0004561 alpha-N-acetylglucosaminidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. http://purl.obolibrary.org/obo/GO_0004561 N-acetyl-alpha-D-glucosaminidase activity|NAG activity|alpha-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase activity|alpha-D-2-acetamido-2-deoxyglucosidase activity|N-acetyl-alpha-glucosaminidase activity|alpha-acetylglucosaminidase activity GO:0004563 beta-N-acetylhexosaminidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. http://purl.obolibrary.org/obo/GO_0004563 N-acetyl-beta-glucosaminidase activity|beta-N-acetyl-D-hexosaminidase activity|beta-D-hexosaminidase activity|beta-D-N-acetylhexosaminidase activity|beta-acetylhexosaminidinase activity|N-acetyl-beta-D-hexosaminidase activity|beta-hexosaminidase activity|beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase activity|hexosaminidase A|N-acetyl-beta-hexosaminidase activity|beta-acetylaminodeoxyhexosidase activity|N-acetylhexosaminidase activity GO:2000382 positive regulation of mesoderm development biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of mesoderm development. http://purl.obolibrary.org/obo/GO_2000382 HP:0001249 Intellectual disability biolink:PhenotypicFeature mondo UMLS:C4020876|UMLS:C0025362|MSH:D008607|UMLS:C0423903|SNOMEDCT_US:91138005|SNOMEDCT_US:247578003|UMLS:C3714756|SNOMEDCT_US:228156007|UMLS:C1843367|UMLS:C0917816 Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. http://purl.obolibrary.org/obo/HP_0001249 Mental deficiency|Mental-retardation|Mental retardation, nonspecific|Poor school performance|Mental retardation|Intellectual disability|Low intelligence|Nonprogressive mental retardation|Nonprogressive intellectual disability|Dull intelligence NCBITaxon:1489341 Osteoglossocephalai organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1489341 GO:2000380 regulation of mesoderm development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of mesoderm development. http://purl.obolibrary.org/obo/GO_2000380 GO:2000381 negative regulation of mesoderm development biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development. http://purl.obolibrary.org/obo/GO_2000381 HGNC:23594 VPS13C biolink:OntologyClass mondo http://identifiers.org/hgnc/23594 HP:0001254 Lethargy biolink:PhenotypicFeature mondo MSH:D053609|SNOMEDCT_US:214264003|UMLS:C0023380 A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. http://purl.obolibrary.org/obo/HP_0001254 Lethargy HP:0001259 Coma biolink:PhenotypicFeature mondo ICD-10:R40.2|UMLS:C0009421|MSH:D003128|SNOMEDCT_US:371632003 Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. http://purl.obolibrary.org/obo/HP_0001259 Coma HP:0001257 Spasticity biolink:PhenotypicFeature mondo UMLS:C0026838|SNOMEDCT_US:397790002|MSH:D009128|SNOMEDCT_US:221360009 A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. http://purl.obolibrary.org/obo/HP_0001257 Muscular spasticity|Muscle spasticity|Involuntary muscle stiffness, contraction, or spasm HP:0001251 Ataxia biolink:PhenotypicFeature mondo UMLS:C0007758|SNOMEDCT_US:85102008|MSH:D002524 Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). http://purl.obolibrary.org/obo/HP_0001251 Cerebellar ataxia HP:0001252 Muscular hypotonia biolink:PhenotypicFeature mondo SNOMEDCT_US:398152000|SNOMEDCT_US:398151007|MSH:D009123|UMLS:C0026827 Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. Muscular hypotonia may be related to defects in skeletal muscle, neuromuscular junction, or peripheral nerve. http://purl.obolibrary.org/obo/HP_0001252 Muscle hypotonia|Low or weak muscle tone HP:0001250 Seizure biolink:PhenotypicFeature mondo SNOMEDCT_US:91175000|MSH:D012640|SNOMEDCT_US:128613002|SNOMEDCT_US:246545002|UMLS:C0014544|SNOMEDCT_US:313307000|UMLS:C0036572|MSH:D004827|SNOMEDCT_US:84757009 A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. http://purl.obolibrary.org/obo/HP_0001250 Epileptic seizure|Seizures|Epilepsy HGNC:23564 MIR17HG biolink:OntologyClass mondo http://identifiers.org/hgnc/23564 HGNC:11588 TBP biolink:OntologyClass mondo http://identifiers.org/hgnc/11588 HGNC:11584 TBK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11584 HGNC:11582 TBCE biolink:OntologyClass mondo http://identifiers.org/hgnc/11582 HGNC:11581 TBCD biolink:OntologyClass mondo http://identifiers.org/hgnc/11581 GO:0004557 alpha-galactosidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. http://purl.obolibrary.org/obo/GO_0004557 alpha-D-galactoside galactohydrolase activity|alpha-D-galactosidase activity|alpha-galactoside galactohydrolase activity|melibiase activity|alpha-galactosidase A GO:0004559 alpha-mannosidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. http://purl.obolibrary.org/obo/GO_0004559 1,2-alpha-mannosidase|exo-alpha-mannosidase activity|alpha-D-mannopyranosidase activity|alpha-D-mannoside mannohydrolase activity|p-nitrophenyl-alpha-mannosidase activity|1,2-alpha-D-mannosidase activity|alpha-D-mannosidase activity GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds biolink:OntologyClass mondo Catalysis of the hydrolysis of any O-glycosyl bond. http://purl.obolibrary.org/obo/GO_0004553 O-glucosyl hydrolase activity GO:0004555 alpha,alpha-trehalase activity biolink:OntologyClass mondo Catalysis of the reaction: alpha,alpha-trehalose + H2O = 2 D-glucose. http://purl.obolibrary.org/obo/GO_0004555 alpha,alpha-trehalose glucohydrolase activity HGNC:23573 MORC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/23573 HGNC:11599 TBX21 biolink:OntologyClass mondo http://identifiers.org/hgnc/11599 HGNC:11598 TBX20 biolink:OntologyClass mondo http://identifiers.org/hgnc/11598 HP:0001231 Abnormal fingernail morphology biolink:PhenotypicFeature mondo UMLS:C4021782 An abnormality of the fingernails. http://purl.obolibrary.org/obo/HP_0001231 Abnormal fingernails|Abnormality of the fingernails HGNC:11596 TBX19 biolink:OntologyClass mondo http://identifiers.org/hgnc/11596 HGNC:11595 TBX18 biolink:OntologyClass mondo http://identifiers.org/hgnc/11595 HGNC:11594 TBX15 biolink:OntologyClass mondo http://identifiers.org/hgnc/11594 HGNC:11592 TBX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11592 MONDO:0022220 Parinaud syndrome biolink:Disease mondo NCIT:C54102|UMLS:C0152222|MEDGEN:57754|SCTID:37991008 A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause. SNOMEDCT:37991008|NCIT:C54102|UMLS:C0152222 http://purl.obolibrary.org/obo/MONDO_0022220 Syndrome, Parinaud|Parinaud syndrome|vertical gaze palsy - parinaud|Parinaud's Syndrome|Syndrome, Parinaud's|dorsal midbrain syndrome|Parinaud's ophthalmoplegia|Parinaud Syndrome|Parinauds Syndrome|parinaud syndrome|dorsal midbrain syndrome|Paralysis of vertical movement|parinaud's ophthalmoplegia|Vertical gaze palsy - Parinaud|parinaud syndrome|Parinaud's syndrome|Dorsal Midbrain Syndrome|Dorsal midbrain syndrome|paralysis of vertical movement|parinaud's syndrome MONDO:0024883 metastatic neoplasm biolink:Disease mondo ICDO:8000/6|NCIT:C3261 A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology. NCIT:C3261 http://purl.obolibrary.org/obo/MONDO_0024883 metastatic neoplasm|metastatic tumor|metastatic disease MONDO:0024882 secondary neoplasm biolink:Disease mondo NCIT:C36255 A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. NCIT:C36255 http://purl.obolibrary.org/obo/MONDO_0024882 secondary neoplasm|secondary tumor MONDO:0024885 malignant ovarian serous tumor biolink:Disease mondo NCIT:C40025 An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma. NCIT:C40025 http://purl.obolibrary.org/obo/MONDO_0024885 ovarian serous tumor, malignant|malignant ovarian serous tumor HGNC:23663 VKORC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23663 MONDO:0024884 metastatic carcinoma in the bone biolink:Disease mondo NCIT:C36082|UMLS:C0700110 A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate. UMLS:C0700110|NCIT:C36082 http://purl.obolibrary.org/obo/MONDO_0024884 metastatic carcinoma in the bone|metastatic carcinoma to the bone NCBITaxon:279271 Leptotrombidium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_279271 MONDO:0024886 serous adenofibroma biolink:Disease mondo NCIT:C67090|ICDO:9014/0|UMLS:C0334498 A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential. NCIT:C67090|UMLS:C0334498 http://purl.obolibrary.org/obo/MONDO_0024886 serous adenofibroma MONDO:0024889 benign mesonephroma biolink:Disease mondo ICDO:9110/0|NCIT:C4294|UMLS:C0334530|DOID:2616 A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants. DOID:2616|NCIT:C4294|UMLS:C0334530 http://purl.obolibrary.org/obo/MONDO_0024889 mesonephric neoplasm, benign|benign mesonephric neoplasm|mesonephric adenoma|Mesonephroma, benign (morphologic abnormality)|mesonephric duct adenoma|Mesonephroma, benign|benign Mesonephroma|Wolffian duct adenoma MONDO:0024888 mesonephric neoplasm biolink:Disease mondo ICDO:9110/1|NCIT:C4295 An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. NCIT:C4295 http://purl.obolibrary.org/obo/MONDO_0024888 neoplasm of mesonephric duct|mesonephric duct tumor|mesonephric tumor|Wolffian duct neoplasm|tumor of mesonephric duct|Mesonephroma|mesonephroma|mesonephric duct neoplasm|Wolffian duct tumor|mesonephric neoplasm MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation biolink:Disease mondo ICD10:Q04.3|OMIM:300067|Orphanet:2148|UMLS:C4275012|UMLS:C1848199|SCTID:715780008|GARD:0006914 Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. UMLS:C1848199|UMLS:C4275012|SNOMEDCT:715780008|http://identifiers.org/omim/300067|ORPHA:2148 http://purl.obolibrary.org/obo/MONDO_0010239 LISX|lissencephaly and agenesis of corpus callosum|lissencephaly, X-linked, 1|lissencephaly, X-linked, type 1|subcortical band heterotopia, X-linked|subcortical laminar heterotopia, X-linked,|subcortical laminar heterotopia, X-linked|X-linked lissencephaly type 1|XLIS|Dc syndrome|Double cortex syndrome|LISX1|lissencephaly X-linked|Xlis|lissencephaly, X-linked, 1; LISX1|X-linked lissencephaly gard_rare|ordo_disease MONDO:0009249 hereditary fructose intolerance biolink:Disease mondo SCTID:20052008|OMIM:229600|MedDRA:10019878|ICD9:271.2|DOID:9869|NCIT:C84720|ICD10:E74.12|ICD10:E74.1|UMLS:C0016751|Orphanet:469|GARD:0006622 Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. SNOMEDCT:20052008|http://identifiers.org/omim/229600|MEDDRA:10019878|ORPHA:469|MESH:D005633|NCIT:C84720|DOID:9869|UMLS:C0016751 http://purl.obolibrary.org/obo/MONDO_0009249 fructose intolerance, hereditary|aldolase B deficiency|fructose intolerance|fructose-1,6-bisphosphate aldolase B deficiency|fructose-1-phosphate aldolase deficiency|Fructosaemia|hereditary fructose-1-phosphate aldolase deficiency|Aldob deficiency|hereditary fructosemia|fructosemia|hereditary fructose intolerance syndrome ordo_disease MONDO:0010238 deafness, X-linked 4 biolink:Disease mondo MESH:C564723|UMLS:C1848204|OMIM:300066 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene. MESH:C564723|UMLS:C1848204|http://identifiers.org/omim/300066 http://purl.obolibrary.org/obo/MONDO_0010238 DFNX4|deafness, X-linked 6, progressive|deafness, X-linked 4|deafness, nonsyndromic sensorineural progressive 6|deafness, X-linked 4; DFNX4|SMPX X-linked nonsyndromic deafness|X-linked nonsyndromic deafness caused by mutation in SMPX|deafness, X-linked type 4 clingen MONDO:0009248 fructose and galactose intolerance biolink:Disease mondo OMIM:229500|UMLS:C1856686|MESH:C565558 http://identifiers.org/omim/229500|UMLS:C1856686|MESH:C565558 http://purl.obolibrary.org/obo/MONDO_0009248 fructose and galactose intolerance MONDO:0009247 frontofacionasal dysplasia biolink:Disease mondo MESH:C538063|OMIM:229400|UMLS:C2931720|ICD10:Q75.8|SCTID:716022002|Orphanet:1791|GARD:0002390 Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes). ORPHA:1791|UMLS:C2931720|MESH:C538063|SNOMEDCT:716022002|http://identifiers.org/omim/229400 http://purl.obolibrary.org/obo/MONDO_0009247 Ffnd|fronto-facio-nasal dysostosis|fronto-facio-nasal dyplasia|Gollop syndrome|Frontofacionasal dysostosis|frontofacionasal dysplasia ordo_malformation_syndrome|gard_rare MONDO:0009246 Friedreich ataxia and congenital glaucoma biolink:Disease mondo MESH:C538061|UMLS:C1856688|OMIM:229310 UMLS:C1856688|MESH:C538061|http://identifiers.org/omim/229310 http://purl.obolibrary.org/obo/MONDO_0009246 Friedreich ataxia and congenital glaucoma MONDO:0009245 Friedreich ataxia biolink:Disease mondo DOID:12705|SCTID:10394003|COHD:441554|MedDRA:10017374|ICD10:G11.1|GARD:0006468|MESH:D005621|ICD9:334.0|NCIT:C84718|Orphanet:95|OMIM:229300|UMLS:C0016719 Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing. MEDDRA:10017374|DOID:12705|ORPHA:95|MESH:D005621|NCIT:C84718|UMLS:C0016719|SNOMEDCT:10394003|http://identifiers.org/omim/229300 http://purl.obolibrary.org/obo/MONDO_0009245 Friedreich's tabes|Friedreich ataxia 1; FRDA|Friedreich ataxia type 1|spinocerebellar ataxia, Friedreich|hereditary spinal ataxia|Friedreich ataxia 1|Fa|hereditary spinal sclerosis|Friedreich ataxia 1|FA|Friedreich ataxia with retained reflexes|FRDA|Friedreich's ataxia|Frda1 ordo_disease|gard_rare MONDO:0009244 Freesia Flowers, inability to smell biolink:Disease mondo OMIM:229250 http://identifiers.org/omim/229250 http://purl.obolibrary.org/obo/MONDO_0009244 Freesia Flowers, inability to smell MONDO:0024881 secondary malignant neoplasm biolink:Disease mondo ICD9:198.89|ICD9:199.1|SCTID:128462008|NCIT:C4968 A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. NCIT:C4968|SNOMEDCT:128462008 http://purl.obolibrary.org/obo/MONDO_0024881 secondary malignancy|secondary malignant neoplasm|secondary cancer MONDO:0024880 metastatic malignant neoplasm biolink:Disease mondo NCIT:C36263 A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site. NCIT:C36263 http://purl.obolibrary.org/obo/MONDO_0024880 metastatic malignant neoplasm|malignant metastatic neoplasm|metastatic neoplasm, malignant|metastatic cancer MONDO:0009243 Fraser-like syndrome biolink:Disease mondo MESH:C565562|UMLS:CN200837|Orphanet:2051|OMIM:229230|UMLS:C1856708 UMLS:CN200837|UMLS:C1856708|MESH:C565562|ORPHA:2051|http://identifiers.org/omim/229230 http://purl.obolibrary.org/obo/MONDO_0009243 Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies|Fraser-like syndrome MONDO:0009242 brittle cornea syndrome biolink:Disease mondo Orphanet:90354|OMIMPS:229200|ICD10:Q79.6|DOID:14775|SCTID:719096006|GARD:0001019 Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. DOID:14775|SNOMEDCT:719096006|ORPHA:90354 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome type 1|Ehlers-Danlos syndrome type 6b|brittle cornea syndrome|type VIB Ehlers-Danlos syndrome|kyphoscoliosis type|brittle cornea syndrome 2|brittle cornea syndrome 1|EDS VIB (formerly)|Ehlers-Danlos syndrome type 6B (formerly)|BCS1 ordo_disease|prototype_pattern|gard_rare MONDO:0010242 fetal akinesia syndrome, X-linked biolink:Disease mondo GARD:0002293|MESH:C537921|UMLS:C1848171|OMIM:300073 http://identifiers.org/omim/300073|MESH:C537921|UMLS:C1848171 http://purl.obolibrary.org/obo/MONDO_0010242 polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures|fetal akinesia syndrome X-linked|fetal akinesia syndrome, X-linked|X-linked form of fetal akinesia syndrome gard_rare MONDO:0009241 fountain syndrome biolink:Disease mondo SCTID:720957007|OMIM:229120|GARD:0000064|ICD10:Q87.8|MESH:C537270|UMLS:C0795944|Orphanet:3219 Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. UMLS:C0795944|SNOMEDCT:720957007|ORPHA:3219|http://identifiers.org/omim/229120|MESH:C537270 http://purl.obolibrary.org/obo/MONDO_0009241 deafness-skeletal dysplasia-coarse face with full lips syndrome|mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|intellectual disability, deafness, skeletal abnormalities, coarse face with full lips|intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|deafness-skeletal dysplasia-lip granuloma syndrome|deafness, skeletal dysplasia, lip granuloma|fountain syndrome gard_rare|ordo_malformation_syndrome MONDO:0010241 congenital stationary night blindness 2A biolink:Disease mondo DOID:0110871|OMIM:300071|UMLS:C1848172 Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene. http://identifiers.org/omim/300071|DOID:0110871|UMLS:C1848172 http://purl.obolibrary.org/obo/MONDO_0010241 congenital stationary night blindness caused by mutation in CACNA1F|congenital stationary night blindness 2A X-linked|night blindness, congenital stationary, type 2|congenital stationary night blindness type 2A|CSNB2A|night blindness, congenital stationary, type 2A|night blindness, congenital stationary, type 2A; CSNB2A|CACNA1F congenital stationary night blindness|CSNB, incomplete, X-linked MONDO:0010244 CGF1 biolink:Disease mondo OMIM:300082|UMLS:C1848140 UMLS:C1848140|http://identifiers.org/omim/300082 http://purl.obolibrary.org/obo/MONDO_0010244 social cognition|cognitive function 1, social; CGF1|CGF1|cognitive function 1, social MONDO:0009240 formiminoglutamic aciduria biolink:Disease mondo SCTID:59761008|MESH:C537425|OMIM:229100|Orphanet:51208|ICD9:270.8|ICD10:E70.8|GARD:0009279|UMLS:C0268609 Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia. SNOMEDCT:59761008|ORPHA:51208|http://identifiers.org/omim/229100|UMLS:C0268609|MESH:C537425 http://purl.obolibrary.org/obo/MONDO_0009240 formiminotransferase deficiency|formiminotransferase deficiency syndrome|Formiminoglutamicaciduria (FIGLU-Uria)|formiminoglutamic aciduria|glutamate formiminotransferase deficiency|formiminotransferase cyclodeaminase deficiency|Figlu-Uria|Arakawa syndrome 1|FTCD deficiency|formiminoglutamic acidemia ordo_disease MONDO:0010243 X-linked immunoneurologic disorder biolink:Disease mondo SCTID:719827008|GARD:0000274|Orphanet:2571|OMIM:300076|UMLS:C1848144|ICD10:D82.8|MESH:C536743 X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. UMLS:C1848144|SNOMEDCT:719827008|http://identifiers.org/omim/300076|ORPHA:2571|MESH:C536743 http://purl.obolibrary.org/obo/MONDO_0010243 Woods-Black-Norbury syndrome|X-linked immunoneurological disorder|Woods Black Norbury syndrome|immunoneurologic disorder, X-linked|neonatal death immune deficiency ordo_disease MONDO:0010246 developmental and epileptic encephalopathy, 9 biolink:Disease mondo UMLS:C1848137|MESH:C564715|DOID:0060848|GARD:0010806|Orphanet:101039|OMIM:300088 Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. MESH:C564715|UMLS:C1848137|ORPHA:101039|DOID:0060848|http://identifiers.org/omim/300088 http://purl.obolibrary.org/obo/MONDO_0010246 epilepsy and mental retardation limited to females|PCDH19 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in PCDH19|familial epilepsy and mental retardation limited to females|PCDH19-related FLE|female restricted epilepsy with intellectual disability|epilepsy, female-restricted, with intellectual disability|early infantile female-limited epilecptic encephalopathy|epilepsy, female-restricted, with mental retardation|EFMR|Juberg-Hellman syndrome|female restricted epilepsy with intellectual disability|Juberg Hellman syndrome|EIEE9|early infantile epileptic encephalopathy 9|epileptic encephalopathy, early infantile, 9; EIEE9|DEE9|epileptic encephalopathy, early infantile, type 9|early infantile epileptic encephalopathy type 9|female restricted epilepsy with mental retardation|epilepsy and intellectual disability limited to females|PCDH19-related infantile epileptic encephalopathy|familial epilepsy and intellectual disability limited to females|female restricted epilepsy with intellectual deficit|epilepsy, female restricted, with mental retardation|epileptic encephalopathy, early infantile, 9|PCDH19-related female-limited epilepsy|epilepsy, female restricted, with intellectual disability ordo_disease MONDO:0010245 X-linked cone-rod dystrophy 2 biolink:Disease mondo DOID:0111006|GARD:0001462|MESH:C564717|OMIM:300085 http://identifiers.org/omim/300085|DOID:0111006|MESH:C564717 http://purl.obolibrary.org/obo/MONDO_0010245 cone-rod dystrophy, X-linked, 2|CORDX2|cone-rod dystrophy X-linked 2|X-linked cone dystrophy 2|cone dystrophy 2, X-linked|COD2|X-linked cone-rod dystrophy type 2|cone dystrophy X-linked 2|cone-rod dystrophy, X-linked, 2; CORDX2 gard_rare MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia biolink:Disease mondo OMIM:300106|Orphanet:93349|MESH:C564714|ICD10:Q77.7|UMLS:C1848097|GARD:0004979 X-linked form of spondyloepimetaphyseal dysplasia. MESH:C564714|UMLS:C1848097|ORPHA:93349|http://identifiers.org/omim/300106 http://purl.obolibrary.org/obo/MONDO_0010248 SEMDX|spondylo-epimetaphyseal dysplasia|SEMD, X-linked|SEMD X-linked|spondyloepimetaphyseal dysplasia, X-linked; SEMDX|spondyloepimetaphyseal dysplasia X-linked|spondyloepimetaphyseal dysplasia, X-linked gard_rare|ordo_disease MONDO:0010247 X-linked cerebral adrenoleukodystrophy biolink:Disease mondo Orphanet:139396|GARD:0009412|OMIM:300100|UMLS:CN199389|ICD10:E71.3|UMLS:CN036464 X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency. UMLS:CN036464|ORPHA:139396|http://identifiers.org/omim/300100|UMLS:CN199389 http://purl.obolibrary.org/obo/MONDO_0010247 adrenoleukodystrophy X-linked cerebral form|childhood-onset cerebral X-linked adrenoleukodystrophy|adrenoleukodystrophy; ALD|adrenoleukodystrophy|adrenomyeloneuropathy|ALD childhood cerebral form|Addison disease and cerebral sclerosis|melanodermic leukodystrophy|adrenoleukodystrophy childhood cerebral form|childhood cerebral ALD|ALD|Siemerling-Creutzfeldt disease|bronze Schilder disease gard_rare|ordo_clinical_subtype MONDO:0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta biolink:Disease mondo Orphanet:566243|ICD10:E07.8 ORPHA:566243 http://purl.obolibrary.org/obo/MONDO_0034217 ordo_disease MONDO:0024879 metastatic carcinoma biolink:Disease mondo NCIT:C3482|UMLS:C1384494|ICDO:8010/6 A carcinoma which has spread from the original site of growth to another anatomic site. UMLS:C1384494|NCIT:C3482 http://purl.obolibrary.org/obo/MONDO_0024879 metastatic carcinoma MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha biolink:Disease mondo Orphanet:566231 ORPHA:566231 http://purl.obolibrary.org/obo/MONDO_0034216 resistance to thyroid hormone alpha ordo_disease MONDO:0034212 methotrexate toxicity biolink:Disease mondo Orphanet:565782 ORPHA:565782 http://purl.obolibrary.org/obo/MONDO_0034212 ordo_disease MONDO:0036870 lymphatic vessel neoplasm biolink:Disease mondo NCIT:C3723|UMLS:C0206619 A benign or malignant neoplasm arising from the lymphatic vessels. NCIT:C3723|UMLS:C0206619 http://purl.obolibrary.org/obo/MONDO_0036870 tumor of lymphatic vessel|neoplasm of the lymphatic vessel|neoplasm of lymph vessel|lymph vessel tumor|neoplasm of the lymph vessel|neoplasm of lymphatic vessel|lymph vessel neoplasm|lymphatic vessel tumor|tumor of the lymphatic vessel|lymphatic vessel neoplasm|tumor of lymph vessel|tumor of the lymph vessel MONDO:0010240 obsolete androgen insensitivity syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010240 HGNC:21014 ANTXR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21014 MONDO:0024873 clitoral carcinoma biolink:Disease mondo UMLS:C1333070|NCIT:C9362 A carcinoma that arises from the clitoris. UMLS:C1333070|NCIT:C9362 http://purl.obolibrary.org/obo/MONDO_0024873 carcinoma of clitoris|carcinoma of the clitoris|clitoral carcinoma|clitoris carcinoma|clitoral cancer MONDO:0024876 tendon sheath disorder biolink:Disease mondo UMLS:C0729734|ICD9:727.9|SCTID:312381009 A disease that involves the tendon sheath. SNOMEDCT:312381009|UMLS:C0729734 http://purl.obolibrary.org/obo/MONDO_0024876 disease or disorder of tendon sheath|tendon sheath disease or disorder|tendon sheath disease|disease of tendon sheath|disorder of tendon sheath|tendon sheath disorder|disorder of tendon sheath GO:0099023 vesicle tethering complex biolink:OntologyClass mondo Any protein complex that plays a role in vesicle tethering. http://purl.obolibrary.org/obo/GO_0099023 GO:0099024 plasma membrane invagination biolink:OntologyClass mondo An infolding of the plasma membrane. http://purl.obolibrary.org/obo/GO_0099024 MONDO:0024878 secondary carcinoma biolink:Disease mondo UMLS:C0085668|NCIT:C36310 A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment. NCIT:C36310|UMLS:C0085668 http://purl.obolibrary.org/obo/MONDO_0024878 secondary carcinoma MONDO:0024877 clitoris neoplasm biolink:Disease mondo UMLS:C1263793|SCTID:126925009|ICD9:239.5 A neoplasm involving a clitoris. UMLS:C1263793|SNOMEDCT:126925009 http://purl.obolibrary.org/obo/MONDO_0024877 tumor of clitoris|clitoral neoplasm|neoplasm of clitoris|clitoris tumor MONDO:0010228 DFNX3 biolink:Disease mondo OMIM:300030|MESH:C564727|GARD:0001707 MESH:C564727|http://identifiers.org/omim/300030 http://purl.obolibrary.org/obo/MONDO_0010228 DFNX3|deafness, X-linked 3; DFNX3|deafness X-linked, DFN3|deafness, X-linked 3|deafness, X-linked 4, congenital sensorineural gard_rare MONDO:0010227 retinitis pigmentosa 3 biolink:Disease mondo MESH:C564520|DOID:0110414|GARD:0010381|OMIM:300029|UMLS:C1845667|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene. MESH:C564520|DOID:0110414|http://identifiers.org/omim/300029|UMLS:C1845667 http://purl.obolibrary.org/obo/MONDO_0010227 retinitis pigmentosa 15|cone-rod Degeneration, X-linked|retinitis pigmentosa type 3|retinitis pigmentosa caused by mutation in RPGR|retinitis pigmentosa 3|RPGR retinitis pigmentosa|retinitis pigmentosa 3; RP3|Choroidoretinal Degeneration with retinal reflex in heterozygous Women|RP3 MONDO:0012889 SS3 biolink:Disease mondo OMIM:612388 http://identifiers.org/omim/612388 http://purl.obolibrary.org/obo/MONDO_0012889 sarcoidosis, susceptibility to, 3|SS3|sarcoidosis, susceptibility to, 3; SS3 predisposition MONDO:0009259 gamma-glutamylcysteine synthetase deficiency biolink:Disease mondo Orphanet:33574|ICD10:D55.1|SCTID:36799008|OMIM:230450|ICD9:270.8|MESH:C565557 Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. MESH:C565557|http://identifiers.org/omim/230450|SNOMEDCT:36799008|ORPHA:33574 http://purl.obolibrary.org/obo/MONDO_0009259 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to|rare inborn error of glutamate-cysteine ligase activity|glutamate-cysteine ligase deficiency|inborn glutamate-cysteine ligase activity disorder|inborn error of glutamate-cysteine ligase activity|rare inborn error of glutamate-cysteine ligase activity ordo_disease MONDO:0009258 classic galactosemia biolink:Disease mondo Orphanet:79239|SCTID:10899004|ICD10:E74.2|OMIM:230400 Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. SNOMEDCT:10899004|ORPHA:79239|http://identifiers.org/omim/230400|UMLS:C0268151 http://purl.obolibrary.org/obo/MONDO_0009258 galactosemia, Duarte variant|galactosemia, classic|galactose-1-phosphate uridylyltransferase deficiency|Galt deficiency|galactosemia type 1|GALT deficiency|galactosemia|galactose-1-phosphate uridyltransferase deficiency|classical galactosemia, homozygous duarte-type ordo_disease MONDO:0010229 alopecia, congenital biolink:Disease mondo SCTID:2965006|NCIT:C35790|OMIM:300042|MESH:C535981 A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common. NCIT:C35790|MESH:C535981|http://identifiers.org/omim/300042|SNOMEDCT:2965006 http://purl.obolibrary.org/obo/MONDO_0010229 congenital alopecia|alopecia, congenital; ALPC|alopecia, congenital|ALPC MONDO:0009257 galactose epimerase deficiency biolink:Disease mondo SCTID:8849004|ICD10:E74.2|Orphanet:79238|OMIM:230350|GARD:0005392 Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. http://identifiers.org/omim/230350|ORPHA:79238|SNOMEDCT:8849004 http://purl.obolibrary.org/obo/MONDO_0009257 galactosemia 3|galactose epimerase deficiency|Gale deficiency|GALE-D|galactosemia type 3|uridine diphosphate galactose-4-epimerase deficiency|GALE deficiency|UDP-galactose-4-epimerase deficiency|epimerase deficiency galactosemia gard_rare|ordo_disease MONDO:0009256 galactorrhea (disease) biolink:Disease mondo MESH:D005687|HP:0100829|OMIM:230300|SCTID:78622004|ICD9:611.6 Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia. http://identifiers.org/omim/230300|SNOMEDCT:78622004|MESH:D005687 http://purl.obolibrary.org/obo/MONDO_0009256 galactorrhea MONDO:0009255 galactokinase deficiency biolink:Disease mondo OMIM:230200|Orphanet:79237|GARD:0002422|ICD10:E74.2|ICD10:E74.29|SCTID:124302001|DOID:14695|NCIT:C114767|UMLS:C0268155 Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. UMLS:C0751158|DOID:14695|http://identifiers.org/omim/230200|ORPHA:79237|MESH:C535999|NCIT:C114767|UMLS:C0268155|SNOMEDCT:124302001 http://purl.obolibrary.org/obo/MONDO_0009255 galactokinase deficiency galactosemia|galactokinase deficiency|galactosemia type 2|galactosemia 2|hereditary galactokinase deficiency|galactosemia II|Galk deficiency|GALK-D|GALK deficiency ordo_disease|gard_rare MONDO:0009254 fucosidosis biolink:Disease mondo SCTID:64716005|DOID:14500|ICD10:E77.1|GARD:0006473|ICD9:271.8|Orphanet:349|UMLS:C0016788|NCIT:C61274|MESH:D005645|OMIM:230000 Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. http://identifiers.org/omim/230000|DOID:14500|NCIT:C61274|SNOMEDCT:64716005|MESH:D005645|UMLS:C0016788|ORPHA:349 http://purl.obolibrary.org/obo/MONDO_0009254 lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues|fucosidosis|Alpha-L-fucosidase deficiency|alpha fucosidase deficiency|A-fucosidase deficiency gard_rare|ordo_disease MONDO:0012894 OS6 biolink:Disease mondo SCTID:239873007|UMLS:C0409959|ICD9:715.96|OMIM:612401 UMLS:C0409959|http://identifiers.org/omim/612401|SNOMEDCT:239873007 http://purl.obolibrary.org/obo/MONDO_0012894 osteoarthritis susceptibility 6|osteoarthritis of knee|osteoarthritis susceptibility 6; OS6|OS6 MONDO:0009253 Fryns syndrome biolink:Disease mondo GARD:0003699|Orphanet:2059|ICD10:Q87.8|SCTID:702432006|NCIT:C98932|UMLS:C0220730|ICD9:759.89|MESH:C538070|OMIM:229850 Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations. SNOMEDCT:702432006|NCIT:C98932|UMLS:C0220730|ORPHA:2059|MESH:C538070|http://identifiers.org/omim/229850 http://purl.obolibrary.org/obo/MONDO_0009253 Moerman Van den Berghe Fryns syndrome|diaphragmatic hernia, abnormal face, and distal limb anomalies|Fryns syndrome|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome|FRNS|Fryns syndrome; FRNS ordo_malformation_syndrome|gard_rare MONDO:0010231 MRX20 biolink:Disease mondo UMLS:C0796226|OMIM:300047|MESH:C563142 http://identifiers.org/omim/300047|UMLS:C0796226|MESH:C563142 http://purl.obolibrary.org/obo/MONDO_0010231 intellectual disability, X-linked 20; MRX20|intellectual disability, X-linked 20|MRX20|mental retardation, X-linked 20|mental retardation, X-linked 20; MRX20 MONDO:0010230 MRX23 biolink:Disease mondo UMLS:C0796229|OMIM:300046|MESH:C563144 http://identifiers.org/omim/300046|UMLS:C0796229|MESH:C563144 http://purl.obolibrary.org/obo/MONDO_0010230 intellectual disability, X-linked 23|intellectual disability, X-linked 23; MRX23|MRX23|mental retardation, X-linked 23|mental retardation, X-linked 23; MRX23 MONDO:0009252 essential fructosuria biolink:Disease mondo MESH:C538068|ICD10:E74.1|ICD10:E74.11|OMIM:229800|Orphanet:2056|MedDRA:10015487|UMLS:C0268160|SCTID:40278002 Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. MEDDRA:10015487|UMLS:C0268160|MESH:C538068|ORPHA:2056|http://identifiers.org/omim/229800|SNOMEDCT:40278002 http://purl.obolibrary.org/obo/MONDO_0009252 ketohexokinase deficiency|fructosuria, essential|hepatic fructokinase deficiency|fructokinase deficiency ordo_disease MONDO:0012895 torsion dystonia 17 biolink:Disease mondo UMLS:C2676281|OMIM:612406|ICD10:G24.1|MESH:C567319|DOID:0090042|Orphanet:370103 A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12. ORPHA:370103|MESH:C567319|UMLS:C2676281|http://identifiers.org/omim/612406|DOID:0090042 http://purl.obolibrary.org/obo/MONDO_0012895 dystonia 17, torsion, autosomal recessive|primary dystonia, DYT17 type|dystonia 17, torsion, autosomal recessive; DYT17|DYT17|torsion dystonia type 17 ordo_disease MONDO:0010233 heterotopia, periventricular, X-linked dominant biolink:Disease mondo ICD9:742.4|SCTID:448227009|OMIM:300049|GARD:0007371 http://identifiers.org/omim/300049|SNOMEDCT:448227009 http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular nodular, with Frontometaphyseal dysplasia|heterotopia periventricular X-linked dominant|heterotopia, periventricular, Ehlers-Danlos variant|heterotopia, periventricular, X-linked dominant|periventricular nodular heterotopia 4, formerly|X-linked periventricular heterotopia|periventricular nodular heterotopia 4|NHBP|nodular heterotopia bilateral periventricular|nodular heterotopia, bilateral periventricular|BPNH|bilateral periventricular nodular heterotopia|PVNH1|periventricular nodular heterotopia 1|heterotopia, familial nodular|periventricular nodular heterotopia 1; PVNH1|heterotopia familial nodular MONDO:0009251 fructose-1,6-bisphosphatase deficiency biolink:Disease mondo GARD:0002400|ICD10:E74.1|SCTID:28183005|Orphanet:348|NCIT:C128119|OMIM:229700|ICD10:E74.19|UMLS:C0016756|DOID:5204 Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants. SNOMEDCT:28183005|UMLS:C0016756|DOID:5204|http://identifiers.org/omim/229700|ORPHA:348|NCIT:C128119 http://purl.obolibrary.org/obo/MONDO_0009251 FBP1D|fructose 1 phosphate aldolase deficiency|fructose 1,6 diphosphatase deficiency|fructose-1,6-bisphosphatase deficiency; FBP1D|fructose-1,6-diphosphatase deficiency|fructose-1,6-bisphosphatase deficiency|baker-Winegrad disease ordo_disease MONDO:0012892 connective tissue disorder due to lysyl hydroxylase-3 deficiency biolink:Disease mondo Orphanet:300284|SCTID:763318007|OMIM:612394|UMLS:C2676285|MESH:C567320 Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. UMLS:C2676285|MESH:C567320|http://identifiers.org/omim/612394|SNOMEDCT:763318007|ORPHA:300284 http://purl.obolibrary.org/obo/MONDO_0012892 connective tissue disorder due to LH3 deficiency|bone fragility with contractures, arterial rupture, and deafness|lysyl Hydroxylase 3 deficiency|bone fragility-contractures-arterial rupture-deafness syndrome|LH3 deficiency ordo_disease MONDO:0012893 osteoarthritis susceptibility 5 biolink:Disease mondo SCTID:239872002|UMLS:C0029410|OMIM:612400 Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene. UMLS:C0029410|http://identifiers.org/omim/612400|SNOMEDCT:239872002 http://purl.obolibrary.org/obo/MONDO_0012893 GDF5 osteoarthritis|OS5|osteoarthritis of hip|osteoarthritis susceptibility 5|osteoarthritis susceptibility 5; OS5|osteoarthritis susceptibility type 5|osteoarthritis caused by mutation in GDF5 predisposition MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked biolink:Disease mondo OMIM:300048|GARD:0003017|MESH:C535532 Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms. http://identifiers.org/omim/300048|MESH:C535532 http://purl.obolibrary.org/obo/MONDO_0010232 CIIP X-linked|CIIP|congenital short bowel syndrome, X-linked|CIIPX|Ipox|intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked|intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|Ciip, X-linked|intestinal pseudoobstruction neuronal chronic idiopathic X-linked|congenital idiopathic intestinal pseudoobstruction gard_rare MONDO:0009250 fructose utilization biolink:Disease mondo OMIM:229650 http://identifiers.org/omim/229650 http://purl.obolibrary.org/obo/MONDO_0009250 fructose utilization MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome biolink:Disease mondo Orphanet:3077|SCTID:702356009|ICD9:758.89|DOID:0060827|ICD10:F71.1|GARD:0003506|OMIM:300055 DOID:0060827|http://identifiers.org/omim/300055|ORPHA:3077|SNOMEDCT:702356009 http://purl.obolibrary.org/obo/MONDO_0010235 MRXS13|intellectual disability, X-linked 79|PPM-X syndrome|X-linked intellectual disability 79|mental retardation, X-linked, syndromic 13; MRXS13|mental retardation, X-linked, syndromic type 13|intellectual deficit, X-linked - psychosis - macroorchidism|mental retardation with psychosis, pyramidal signs, and macroorchidism|Lindsay-Burn syndrome|intellectual disability, X-linked, syndromic 13|X-linked intellectual disability with spasticity|mental retardation, X-linked, syndromic 13|intellectual disability, X-linked, syndromic type 13|intellectual disability, X-linked, syndromic 13; MRXS13|mental retardation, X-linked 16|mental retardation, X-linked, with spasticity|X-linked mental retardation with spasticity|intellectual disability psychosis macroorchidism|PPM-X|mental retardation psychosis macroorchidism|mental retardation, X-linked 79|X-linked mental retardation 79|intellectual disability, X-linked 16|intellectual disability, X-linked, with spasticity|intellectual disability with psychosis, pyramidal signs, and macroorchidism gard_rare|ordo_malformation_syndrome MONDO:0012898 narcolepsy 4, susceptibility to biolink:Disease mondo OMIM:612417|UMLS:C2676275 UMLS:C2676275|http://identifiers.org/omim/612417 http://purl.obolibrary.org/obo/MONDO_0012898 narcolepsy 4, susceptibility to|NRCLP4|narcolepsy 4, susceptibility to; NRCLP4 predisposition MONDO:0010234 obsolete body length, mouse, human homolog biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010234 body length, mouse, HUMAN homolog MONDO:0012899 AGA3 biolink:Disease mondo MESH:C567317|UMLS:C2676272|OMIM:612421 MESH:C567317|UMLS:C2676272|http://identifiers.org/omim/612421 http://purl.obolibrary.org/obo/MONDO_0012899 alopecia, androgenetic, 3; AGA3|alopecia, androgenetic, 3|AGA3 MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome biolink:Disease mondo MESH:C537512|SCTID:719812008|GARD:0004377|UMLS:C2931516|GARD:0002765|ICD10:Q87.0|OMIM:300064|Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. UMLS:C2931516|http://identifiers.org/omim/300064|SNOMEDCT:719812008|MESH:C537512|ORPHA:2898 http://purl.obolibrary.org/obo/MONDO_0010237 plagiocephaly and X-linked mental retardation|mental retardation, X-linked, with craniofacial dysmorphism|intellectual disability, X-linked, with craniofacial dysmorphism|intellectual disability, X-linked Hyde-Forster type|mental retardation, X-linked, Hyde-Forster type|Hyde Forster-McCarthy-Berry syndrome|intellectual disability, X-linked, Hyde-Forster type|mental retardation, X-linked Hyde-Forster type|intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|Hyde Forster McCarthy Berry syndrome|plagiocephaly and X-linked intellectual disability|mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features ordo_malformation_syndrome|gard_rare MONDO:0012896 PSORS10 biolink:Disease mondo OMIM:612410 http://identifiers.org/omim/612410 http://purl.obolibrary.org/obo/MONDO_0012896 PSORS10|psoriasis 10, susceptibility to; PSORS10|psoriasis 10, susceptibility to MONDO:0012897 congenital factor XI deficiency biolink:Disease mondo NCIT:C84705|UMLS:C0015523|SCTID:49762007|Orphanet:329|COHD:437256|DOID:2229|ICD9:286.2|MESH:D005173|GARD:0009670|ICD10:D68.1|OMIM:612416 Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. MESH:D005173|NCIT:C84705|UMLS:C0015523|http://identifiers.org/omim/612416|ORPHA:329|SNOMEDCT:49762007|DOID:2229 http://purl.obolibrary.org/obo/MONDO_0012897 factor 11 deficiency|PTA deficiency|factor XI deficiency|hereditary Factor XI deficiency|F11 deficiency|congenital factor XI deficiency|hemophilia C|Rosenthal factor deficiency|Rosenthal syndrome|plasma thromboplastin antecedent deficiency|hereditary factor XI deficiency disease|Rosenthal's disease|hereditary factor XI deficiency ordo_disease|gard_rare MONDO:0010236 MRX14 biolink:Disease mondo OMIM:300062|GARD:0008557|MESH:C537454 http://identifiers.org/omim/300062|MESH:C537454 http://purl.obolibrary.org/obo/MONDO_0010236 MRX14|intellectual disability, X-linked 14|mental retardation, X-linked 14|intellectual disability, X-linked 14; MRX14|mental retardation, X-linked 14; MRX14|intellectual disability, X-linked nonspecific, type 14|mental retardation, X-linked nonspecific, type 14 MONDO:0024868 metastatic carcinoma in the adrenal medulla biolink:Disease mondo NCIT:C9276|UMLS:C1334717 A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site. UMLS:C1334717|NCIT:C9276 http://purl.obolibrary.org/obo/MONDO_0024868 metastatic carcinoma in the adrenal medulla|metastatic carcinoma to the adrenal medulla MONDO:0022208 crystal arthropathy biolink:Disease mondo SCTID:18834007|ICD9:712.88|ICD9:712.98|MEDGEN:508879|ICD9:712.80|GARD:0012802|ICD9:712.90|ICD9:712|UMLS:C0152087 SNOMEDCT:18834007|UMLS:C0152087 http://purl.obolibrary.org/obo/MONDO_0022208 Crystal Arthritis|Crystal Arthropathy|Crystal Arthritides|Crystal Arthropathies|Crystalline arthritis|Arthropathies, Crystalline|Arthritides, Crystalline|Arthritis, Crystalline|Arthropathy, Crystalline|crystal-related arthropathy and periarthropathy|Crystal arthropathy|Arthropathies, Crystal|Crystal-induced arthritis AND/OR synovitis|Arthritides, Crystal|Arthropathy, Crystal|Arthritis, Crystal|crystal arthropathy|crystalline arthritis|Crystal-related arthropathy and periarthropathy|Crystalline Arthropathy|Crystalline Arthritis|Crystalline Arthritides|Crystalline Arthropathies|crystal-induced arthritis and/or synovitis MONDO:0012890 pontocerebellar hypoplasia type 2B biolink:Disease mondo MESH:C567325|OMIM:612389|DOID:0060268|UMLS:C2676466 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene. MESH:C567325|http://identifiers.org/omim/612389|UMLS:C2676466|DOID:0060268 http://purl.obolibrary.org/obo/MONDO_0012890 pontocerebellar hypoplasia, type 2B; PCH2B|TSEN2 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2|pontocerebellar hypoplasia, type 2B|PCH2B MONDO:0012891 pontocerebellar hypoplasia type 2C biolink:Disease mondo UMLS:C2676465|MESH:C567324|DOID:0060269|OMIM:612390 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene. MESH:C567324|http://identifiers.org/omim/612390|UMLS:C2676465|DOID:0060269 http://purl.obolibrary.org/obo/MONDO_0012891 TSEN34 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 2C; PCH2C|PCH2C|pontocerebellar hypoplasia, type 2C|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34 MONDO:0000894 mucinous bronchioloalveolar adenocarcinoma biolink:Disease mondo DOID:0080185 A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. DOID:0080185 http://purl.obolibrary.org/obo/MONDO_0000894 MONDO:0024861 mixed teratoma and seminoma biolink:Disease mondo NCIT:C9010 NCIT:C9010 http://purl.obolibrary.org/obo/MONDO_0024861 mixed teratoma and seminoma MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma biolink:Disease mondo DOID:0080184|ICDO:8254/3|UMLS:C1266036|NCIT:C7270 A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells. DOID:0080184|UMLS:C1266036|NCIT:C7270 http://purl.obolibrary.org/obo/MONDO_0000893 mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma|indeterminate bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma|mixed mucinous and non-mucinous bronchoalveolar lung carcinoma MONDO:0000892 colon medullary carcinoma biolink:Disease mondo NCIT:C60641|UMLS:C1880119|DOID:0080183|ONCOTREE:CMC A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. NCIT:C60641|UMLS:C1880119|DOID:0080183 http://purl.obolibrary.org/obo/MONDO_0000892 medullary colon carcinoma|colon medullary carcinoma|medullary carcinoma of the colon MONDO:0022200 treatment for disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022200 MONDO:0024863 small size posterior uveal melanoma biolink:Disease mondo NCIT:C9089|UMLS:C0278867 NCIT:C9089|UMLS:C0278867 http://purl.obolibrary.org/obo/MONDO_0024863 small size posterior uveal melanoma MONDO:0000891 mixed fibrolamellar hepatocellular carcinoma biolink:Disease mondo DOID:0080182 A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. DOID:0080182 http://purl.obolibrary.org/obo/MONDO_0000891 MONDO:0022201 has treatment by surgery biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022201 MONDO:0000898 malignant hemangioma biolink:Disease mondo UMLS:C0474836|DOID:0080189 A malignant form of hemangioma. UMLS:C0474836|DOID:0080189 http://purl.obolibrary.org/obo/MONDO_0000898 hemangioma, malignant MONDO:0022202 disseminated biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022202 MONDO:0024864 medium/large size posterior uveal melanoma biolink:Disease mondo UMLS:C0278868|NCIT:C9090 NCIT:C9090|UMLS:C0278868 http://purl.obolibrary.org/obo/MONDO_0024864 medium/large size posterior uveal melanoma MONDO:0000897 obsolete chronic myelomonocytic leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000897 MONDO:0000896 obsolete chronic neutrophilic leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000896 MONDO:0009229 hyaline fibromatosis syndrome biolink:Disease mondo GARD:0006807|OMIM:228600|UMLS:C2745948|Orphanet:498474 ORPHA:498474|UMLS:C2745948|http://identifiers.org/omim/228600 http://purl.obolibrary.org/obo/MONDO_0009229 juvenile hyaline fibromatosis (former subtype)|infantile systemic hyalinosis (former subtype)|hyaline fibromatosis syndrome; HFS|hyalinosis, systemic|inherited systemic hyalinosis|HFS|hyaline fibromatosis syndrome ordo_disease MONDO:0022205 pustular psoriasis biolink:Disease mondo MEDGEN:508876|UMLS:C0152081|ICD9:696.1|SCTID:200973000|GARD:0012813 SNOMEDCT:200973000|UMLS:C0152081 http://purl.obolibrary.org/obo/MONDO_0022205 pustular psoriasis|Pustular psoriasis gard_rare MONDO:0000895 nonmucinous bronchioloalveolar adenocarcinoma biolink:Disease mondo DOID:0080186 A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. DOID:0080186 http://purl.obolibrary.org/obo/MONDO_0000895 MONDO:0010217 de Sanctis-Cacchione syndrome biolink:Disease mondo MESH:C535992|NCIT:C84666|UMLS:CN199649|ICD9:759.89|SCTID:414673004|UMLS:C0265201|OMIM:278800|Orphanet:1569|GARD:0008276 A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. UMLS:C0265201|ORPHA:1569|UMLS:CN199649|MESH:C535992|NCIT:C84666|http://identifiers.org/omim/278800|SNOMEDCT:414673004 http://purl.obolibrary.org/obo/MONDO_0010217 de Sanctis-Cacchione syndrome|xerodermic idiocy gard_rare MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome biolink:Disease mondo ICD10:Q87.0|MESH:C565567|Orphanet:2025|UMLS:C1856761|OMIM:228560|GARD:0010528 Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. ORPHA:2025|http://identifiers.org/omim/228560|UMLS:C1856761|MESH:C565567 http://purl.obolibrary.org/obo/MONDO_0009228 gingival fibromatosis with craniofacial dysmorphism|fibromatosis, gingival, with distinctive facies|gingival fibromatosis with distinctive facies gard_rare|ordo_malformation_syndrome MONDO:0009227 myofibromatosis, infantile, 1 biolink:Disease mondo ICD9:756.9|SCTID:254146000|OMIM:228550|MESH:C562978 Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene. MESH:C562978|http://identifiers.org/omim/228550|SNOMEDCT:254146000 http://purl.obolibrary.org/obo/MONDO_0009227 myofibromatosis, infantile, type 1|myofibromatosis, infantile, 1|myofibromatosis caused by mutation in PDGFRB|myofibromatosis, juvenile|PDGFRB myofibromatosis|IMF1|fibromatosis, congenital generalized|myofibromatosis, infantile, 1; IMF1 MONDO:0010216 xeroderma pigmentosum group G biolink:Disease mondo MESH:C562593|NCIT:C3969|Orphanet:276267|UMLS:C0268141|OMIM:278780|SCTID:36454001|ICD10:Q82.1|DOID:0110849|GARD:0005629 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene. DOID:0110849|ORPHA:276267|http://identifiers.org/omim/278780|MESH:C562593|UMLS:C0268141|NCIT:C3969|SNOMEDCT:36454001 http://purl.obolibrary.org/obo/MONDO_0010216 xeroderma pigmentosum type 7|XP7|xeroderma pigmentosum, complementation group G|xeroderma pigmentosum, type G/Cockayne syndrome|xeroderma pigmentosum complementation group G|xeroderma pigmentosum, complementation group type G|xeroderma pigmentosum group type G|XPG|ERCC5 xeroderma pigmentosum|XP group G|xeroderma pigmentosum, complementation group G; XPG|XP, Group G|xeroderma pigmentosum caused by mutation in ERCC5|xeroderma pigmentosum 7|XP-G|xeroderma pigmentosum VII MONDO:0009226 fibrochondrogenesis 1 biolink:Disease mondo UMLS:C3278138|OMIM:228520 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene. http://identifiers.org/omim/228520|UMLS:C3278138 http://purl.obolibrary.org/obo/MONDO_0009226 fibrochondrogenesis type 1|FBCG1|COL11A1 fibrochondrogenesis|fibrochondrogenesis 1|fibrochondrogenesis caused by mutation in COL11A1|fibrochondrogenesis 1; FBCG1 MONDO:0012878 Cowden syndrome 2 biolink:Disease mondo UMLS:C3552552|OMIM:612359|MESH:C567337 Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene. UMLS:C3552552|MESH:C567337|http://identifiers.org/omim/612359 http://purl.obolibrary.org/obo/MONDO_0012878 SDHB Cowden disease|Cowden syndrome 2; CWS2|CWS2|Cowden syndrome type 2|Cowden syndrome 2|Cowden disease caused by mutation in SDHB MONDO:0010219 xylosidase deficiency biolink:Disease mondo MESH:C564730|UMLS:C1848407|OMIM:278900 MESH:C564730|UMLS:C1848407|http://identifiers.org/omim/278900 http://purl.obolibrary.org/obo/MONDO_0010219 xylosidase deficiency MONDO:0010218 46,XX sex reversal 2 biolink:Disease mondo OMIM:278850|UMLS:C2749215 UMLS:C2749215|http://identifiers.org/omim/278850 http://purl.obolibrary.org/obo/MONDO_0010218 SRXX2|46,XX Sex reversal type 2|46,XX sex reversal 2|46,XX SEX reversal 2; SRXX2|chromosome 17Q24 Duplication syndrome MONDO:0012879 schizophrenia 14 biolink:Disease mondo DOID:0070090|UMLS:C2677614|OMIM:612361 A schizophrenia that has material basis in a mutation on chromosome 2q32.1. DOID:0070090|UMLS:C2677614|http://identifiers.org/omim/612361 http://purl.obolibrary.org/obo/MONDO_0012879 schizophrenia 14|SCZD14|Sczd14|schizophrenia susceptibility locus, chromosome 2Q32-related|schizophrenia type 14 MONDO:0009225 fever, familial lifelong persistent biolink:Disease mondo MESH:C565569|OMIM:228400|UMLS:C1856788 http://identifiers.org/omim/228400|UMLS:C1856788|MESH:C565569 http://purl.obolibrary.org/obo/MONDO_0009225 fever, familial lifelong persistent MONDO:0009224 fetal iodine syndrome biolink:Disease mondo OMIM:228355|GARD:0002304|Orphanet:1910|UMLS:C4273860|ICD10:P72.2|SCTID:718228001 Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH). http://identifiers.org/omim/228355|UMLS:C4273860|SNOMEDCT:718228001|ORPHA:1910 http://purl.obolibrary.org/obo/MONDO_0009224 fetal iodine deficiency disorder|fetal iodine deficiency disorder; FIDD|endemic cretinism|FIDD ordo_malformation_syndrome|gard_rare MONDO:0000890 Zika virus congenital syndrome biolink:Disease mondo DOID:0080180 A congenital birth syndrome that arises from materal Zika infection. DOID:0080180 http://purl.obolibrary.org/obo/MONDO_0000890 congenital Zika virus infection|ZIKV congenital infection|congenital Zika syndrome MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia biolink:Disease mondo Orphanet:325448|GARD:0010127|ICD10:Q56.1|SCTID:8829008|UMLS:C0271582|OMIM:228300|MESH:C537919|DOID:0090091|ICD9:253.4 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene. UMLS:C0271582|http://identifiers.org/omim/228300|MESH:C537919|DOID:0090091|SNOMEDCT:8829008|ORPHA:325448 http://purl.obolibrary.org/obo/MONDO_0009223 HH23|Pasqualini syndrome|46,XY disorder of sex development due to LHB deficiency|hypogonadotropic hypogonadism 23 without anosmia; HH23|eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)|46,XY DSD due to LHB deficiency|46,XY DSD due to luteinizing hormone subunit beta deficiency|LHB hypogonadotropic hypogonadism|fertile eunuch syndrome|46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism caused by mutation in LHB|Leydig cell hypoplasia due to LHB deficiency|Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism 23 without anosmia ordo_clinical_subtype GO:1905276 regulation of epithelial tube formation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of epithelial tube formation. http://purl.obolibrary.org/obo/GO_1905276 GO:1905277 negative regulation of epithelial tube formation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of epithelial tube formation. http://purl.obolibrary.org/obo/GO_1905277 inhibition of epithelial tube formation|downregulation of epithelial tube formation|down-regulation of epithelial tube formation|down regulation of epithelial tube formation MONDO:0009222 Gollop-Wolfgang complex biolink:Disease mondo GARD:0002285|UMLS:C1856789|OMIM:228250|SCTID:716006003|ICD10:Q74.8|MESH:C537917|Orphanet:1986 Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur. http://identifiers.org/omim/228250|MESH:C537917|UMLS:C1856789|ORPHA:1986|SNOMEDCT:716006003 http://purl.obolibrary.org/obo/MONDO_0009222 femur, unilateral bifid, with monodactylous ectrodactyly|Gollop-Wolfgang complex|femur bifid with monodactylous ectrodactyly|GWC|bifid femur-monodactylous ectrodactyly syndrome ordo_malformation_syndrome MONDO:0009221 femur-fibula-ulna complex biolink:Disease mondo OMIM:228200|Orphanet:2019|UMLS:C1856790|MESH:C537918|MedDRA:10068448|ICD10:Q74.8|GARD:0002286 Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal. http://identifiers.org/omim/228200|UMLS:C2363814|MESH:C537918|UMLS:C1856790|MEDDRA:10068448|ORPHA:2019 http://purl.obolibrary.org/obo/MONDO_0009221 femur fibula ulna syndrome|femur-fibula-ulna dysostosis|FFU complex|femur-fibula-ulna syndrome|Ffu syndrome|PFFD ordo_malformation_syndrome GO:1905278 positive regulation of epithelial tube formation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of epithelial tube formation. http://purl.obolibrary.org/obo/GO_1905278 up-regulation of epithelial tube formation|up regulation of epithelial tube formation|activation of epithelial tube formation|upregulation of epithelial tube formation MONDO:0010220 Young syndrome biolink:Disease mondo MedDRA:10063689|MESH:C536718|GARD:0000341|ICD9:759.89|ICD10:N46|Orphanet:3471|OMIM:279000|SCTID:233666007|UMLS:C0340037 Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections. SNOMEDCT:233666007|http://identifiers.org/omim/279000|UMLS:C0340037|ORPHA:3471|MEDDRA:10063689|MESH:C536718 http://purl.obolibrary.org/obo/MONDO_0010220 Barry Perkins Young syndrome|young syndrome|sinusitis-infertility syndrome|azoospermia-sinopulmonary infections syndrome|Barry-Perkins-Young syndrome|azoospermia obstructive and chronic sinopulmonary infections|azoospermia, obstructive, and chronic sinopulmonary infections ordo_disease|gard_rare MONDO:0012883 acute promyelocytic leukemia biolink:Disease mondo ICD10:C92.4|MESH:D015473|ICDO:9866/3|SCTID:110004001|MedDRA:10001019|ICD10:C92.40|EFO:0000224|GARD:0000538|Orphanet:520|UMLS:C0023487|OMIM:612376|DOID:0060318|NCIT:C3182 Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue. UMLS:C0023487|DOID:0060318|MEDDRA:10001019|NCIT:C3182|MESH:D015473|http://identifiers.org/omim/612376|SNOMEDCT:110004001|ORPHA:520 http://purl.obolibrary.org/obo/MONDO_0012883 acute promyelocytic leukemia|acute promyelocytic leukemia with PML-rara|acute myeloid leukemia M3|APML|APML - acute promyelocytic leukemia|AML M3|promyelocytic leukemia|AML with t(15;17)(q22;q12);(PML/RARalpha) and variants|acute myeloblastic leukemia type 3|leukemia, acute promyelocytic|APL|acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants|acute myeloblastic leukemia 3|acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara|acute promyelocytic leukemia; APL|AML with t(15;17)(q22;q12)|FAB M3|acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara ordo_disease MONDO:0009220 visceral steatosis, congenital biolink:Disease mondo SCTID:270881008|COHD:4059290|GARD:0008514|OMIM:228100|ICD9:571.8 http://identifiers.org/omim/228100|SNOMEDCT:270881008 http://purl.obolibrary.org/obo/MONDO_0009220 fatty liver disease, congenital|steatosis of liver|fatal neonatal hepatic steatosis|visceral steatosis|visceral steatosis, congenital|White liver disease|fatty metamorphosis of viscera MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 biolink:Disease mondo OMIM:612378 http://identifiers.org/omim/612378 http://purl.obolibrary.org/obo/MONDO_0012884 SLEB13|systemic lupus erythematosus, susceptibility to, 13; SLEB13|systemic lupus erythematosus, susceptibility to, 13 predisposition MONDO:0010222 X-linked Opitz G/BBB syndrome biolink:Disease mondo ICD10:Q87.8|OMIM:300000|Orphanet:306597 X-linked form of Opitz G/BBB syndrome. http://identifiers.org/omim/300000|ORPHA:306597 http://purl.obolibrary.org/obo/MONDO_0010222 Opitz GBBB syndrome, type I; GBBB1|Opitz GBBB syndrome, X-linked|Opitz GBBB syndrome, type I|GBBB1|Opitz syndrome, X-linked|hypertelorism with esophageal Abnormality and hypospadias|Opitz syndrome|Opitz GBBB syndrome, type 1|hypertelorism-hypospadias syndrome|X-linked Opitz syndrome|Opitz G/BBB syndrome, X-linked|telecanthus-hypospadias syndrome|Opitz Bbbg syndrome, type 1|Opitz-G syndrome, type 1|X-linked Opitz BBB/G syndrome|XLOS ordo_etiological_subtype MONDO:0012881 major affective disorder 7 biolink:Disease mondo OMIM:612371|MESH:C567529 http://identifiers.org/omim/612371|MESH:C567529 http://purl.obolibrary.org/obo/MONDO_0012881 major affective disorder 7|bipolar affective disorder|MAFD7|major affective disorder type 7|major affective disorder 7; MAFD7 MONDO:0010221 CHIME syndrome biolink:Disease mondo Orphanet:3474|OMIM:280000|MESH:C536729|SCTID:720639008|ICD10:Q87.8|GARD:0000310|UMLS:C1848392 CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. SNOMEDCT:720639008|UMLS:C1848392|http://identifiers.org/omim/280000|ORPHA:3474|MESH:C536729 http://purl.obolibrary.org/obo/MONDO_0010221 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome; CHIME|CHIME|Zunich neuroectodermal syndrome|congenital disorder of glycosylation due to PIGL deficiency|CHIME syndrome|PIGL-CDG|neuroectodermal syndrome, Zunich type|glycosylphosphatidylinositol biosynthesis defect 5|coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome|neuroectodermal dysplasia, CHIME type|coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome; CHIME|coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome|Zunich-Kaye syndrome ordo_malformation_syndrome MONDO:0012882 major affective disorder 9 biolink:Disease mondo OMIM:612372|MESH:C567531 http://identifiers.org/omim/612372|MESH:C567531 http://purl.obolibrary.org/obo/MONDO_0012882 major affective disorder 9|bipolar affective disorder|MAJOR affective disorder 9; MAFD9|MAFD9 MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome biolink:Disease mondo Orphanet:2508|GARD:0004528|MESH:C563110|OMIM:300004|ICD10:Q87.8|UMLS:C0796124|SCTID:763797003 Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed. SNOMEDCT:763797003|MESH:C563110|http://identifiers.org/omim/300004|UMLS:C0796124|ORPHA:2508 http://purl.obolibrary.org/obo/MONDO_0010224 New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum|Proud syndrome|corpus callosum, agenesis of, with abnormal genitalia|ACC with abnormal genitalia|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|Proud Levine Carpenter syndrome|ACC-abnormal genitalia syndrome|Proud-Levine-Carpenter syndrome ordo_malformation_syndrome GO:0051092 positive regulation of NF-kappaB transcription factor activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. http://purl.obolibrary.org/obo/GO_0051092 activation of NF-kappaB transcription factor|activation of NF-kappaB|NF-kappaB activation MONDO:0012887 inflammatory bowel disease 23 biolink:Disease mondo UMLS:C2676484|DOID:0110884|OMIM:612381|MESH:C567326 An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1. DOID:0110884|MESH:C567326|http://identifiers.org/omim/612381|UMLS:C2676484 http://purl.obolibrary.org/obo/MONDO_0012887 inflammatory bowel disease 23|IBD23|inflammatory bowel disease type 23|inflammatory bowel disease 23; IBD23 MONDO:0012888 sarcoidosis, susceptibility to, 2 biolink:Disease mondo OMIM:612387 Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene. http://identifiers.org/omim/612387 http://purl.obolibrary.org/obo/MONDO_0012888 sarcoidosis, susceptibility to, 2; SS2|BTNL2 sarcoidosis|SS2|sarcoidosis, susceptibility to, type 2|susceptibility to sarcoidosis 2|sarcoidosis, susceptibility to, 2|sarcoidosis caused by mutation in BTNL2 predisposition MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency biolink:Disease mondo UMLS:C1848387|MESH:C564729|OMIM:300001 MESH:C564729|UMLS:C1848387|http://identifiers.org/omim/300001 http://purl.obolibrary.org/obo/MONDO_0010223 ichthyosis, X-linked, without steroid sulfatase deficiency GO:0051093 negative regulation of developmental process biolink:OntologyClass mondo Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/GO_0051093 downregulation of developmental process|inhibition of developmental process|down-regulation of developmental process|down regulation of developmental process MONDO:0010226 46,XY sex reversal 2 biolink:Disease mondo OMIM:300018|UMLS:C1848296|MESH:C535601 MESH:C535601|UMLS:C1848296|http://identifiers.org/omim/300018 http://purl.obolibrary.org/obo/MONDO_0010226 46,XY SEX reversal 2; SRXY2|46,XY sex reversal 2|SRXY2|dosage-sensitive Sex reversal|46,XY Sex reversal type 2|46,XY Sex reversal, Dax1-related MONDO:0012885 SRD5A3-CDG biolink:Disease mondo ICD10:E77.8|UMLS:C3150191|Orphanet:324737|GARD:0012397|OMIM:612379|SCTID:733601006|UMLS:C4317224 SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. ORPHA:324737|http://identifiers.org/omim/612379|UMLS:C4317224|SNOMEDCT:733601006|UMLS:C3150191 http://purl.obolibrary.org/obo/MONDO_0012885 coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|CDGIq|congenital disorder of glycosylation type 1q|CDG Iq|congenital disorder of glycosylation, type Iq; CDG1Q|congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency|CDG-Iq|CDG1Q|CDG syndrome type Iq|SRD5A3-CDG (CDG-Iq)|congenital disorder of glycosylation type Iq|congenital disorder of glycosylation, type Iq ordo_disease GO:0051090 regulation of DNA-binding transcription factor activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. http://purl.obolibrary.org/obo/GO_0051090 regulation of DNA binding transcription factor activity|regulation of sequence-specific DNA binding transcription factor activity|regulation of androgen receptor activity|regulation of thyroid hormone receptor activity|regulation of transcription factor activity MONDO:0010225 Dent disease type 1 biolink:Disease mondo SCTID:717789008|OMIM:300009|ICD10:N25.8|Orphanet:93622|UMLS:C4305530|UMLS:CN206679 Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. UMLS:CN206679|UMLS:C1848336|http://identifiers.org/omim/300009|SNOMEDCT:717789008|ORPHA:93622|MESH:C538212|UMLS:C4305530 http://purl.obolibrary.org/obo/MONDO_0010225 Dent disease type 1|CLCN5 Dent disease|nephrolithiasis, hypercalciuric, X-linked|Dent disease caused by mutation in CLCN5|nephrolithiasis type 1|nephrolithiasis 2|urolithiasis, hypercalciuric, X-linked|DENT disease 1 ordo_clinical_subtype MONDO:0012886 inflammatory bowel disease 22 biolink:Disease mondo DOID:0110905|MESH:C567327|OMIM:612380|UMLS:C2676485 An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2. DOID:0110905|MESH:C567327|http://identifiers.org/omim/612380|UMLS:C2676485 http://purl.obolibrary.org/obo/MONDO_0012886 IBD22|inflammatory bowel disease type 22|inflammatory bowel disease 22|inflammatory bowel disease 22; IBD22 GO:0051091 positive regulation of DNA-binding transcription factor activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. http://purl.obolibrary.org/obo/GO_0051091 positive regulation of thyroid hormone receptor activity|up-regulation of transcription factor activity|positive regulation of transcription factor activity|up regulation of transcription factor activity|activation of transcription factor activity|stimulation of transcription factor activity|upregulation of transcription factor activity|positive regulation of DNA binding transcription factor activity|positive regulation of sequence-specific DNA binding transcription factor activity MONDO:0024857 immature extragonadal teratoma biolink:Disease mondo NCIT:C8884|UMLS:C0855163 An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary. UMLS:C0855163|NCIT:C8884 http://purl.obolibrary.org/obo/MONDO_0024857 primary malignant extragonadal teratoma|extragonadal primary malignant teratoma|malignant extragonadal teratoma|immature extragonadal teratoma MONDO:0000889 haemophilus meningitis biolink:Disease mondo DOID:0080179|SCTID:5900006|COHD:437538|EFO:1000955|SCTID:192643004|MONDO:0006775|ICD9:320.0|MedDRA:10018953|ICD10:G00.0|MESH:D008583 Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults. SNOMEDCT:192643004|MESH:D008583|SNOMEDCT:5900006|DOID:0080179 http://purl.obolibrary.org/obo/MONDO_0000889 Haemophilus influenzae bacterial meningitis|Haemophilus influenzae caused bacterial meningitis GO:0051094 positive regulation of developmental process biolink:OntologyClass mondo Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/GO_0051094 up-regulation of developmental process|up regulation of developmental process|activation of developmental process|stimulation of developmental process|upregulation of developmental process MONDO:0000888 gastrointestinal mucositis biolink:Disease mondo COHD:437915|DOID:0080178|MESH:D052016|ICD9:538|SCTID:95518006|NCIT:C3853|UMLS:C0521585|ICD9:558.9 Inflammation of the mucous membranes lining the gastrointestinal tract. SNOMEDCT:95518006|MESH:D052016|UMLS:C0521585|NCIT:C3853|DOID:0080178 http://purl.obolibrary.org/obo/MONDO_0000888 gastrointestinal system mucosa inflammation|mucositis|inflammation of gastrointestinal system mucosa|gastrointestinal system mucosaitis HGNC:23639 TTC37 biolink:OntologyClass mondo http://identifiers.org/hgnc/23639 MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia biolink:Disease mondo DOID:0090084|MESH:C567220|UMLS:C3552553|ICD10:E23.0|OMIM:612370|GARD:0010773 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene. UMLS:C3552553|MESH:C567220|http://identifiers.org/omim/612370|DOID:0090084 http://purl.obolibrary.org/obo/MONDO_0012880 hypogonadotropic hypogonadism 5 with or without anosmia|hypogonadotropic hypogonadism 5 with or without anosmia; HH5|hypogonadotropic hypogonadism caused by mutation in CHD7|KAL5|HH5|Kallmann syndrome 5|CHD7 hypogonadotropic hypogonadism gard_rare GO:0090665 glycoprotein complex biolink:OntologyClass mondo A protein complex containing at least one glycosylated protein, may be held together by both covalent and noncovalent bonds. http://purl.obolibrary.org/obo/GO_0090665 GO:0051098 regulation of binding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/GO_0051098 GO:0051099 positive regulation of binding biolink:OntologyClass mondo Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/GO_0051099 up-regulation of binding|up regulation of binding|activation of binding|stimulation of binding|upregulation of binding GO:0099003 vesicle-mediated transport in synapse biolink:OntologyClass mondo Any vesicle-mediated transport that occurs in a synapse. http://purl.obolibrary.org/obo/GO_0099003 GO:0099004 calmodulin dependent kinase signaling pathway biolink:OntologyClass mondo Any signal transduction pathway involving calmodulin dependent kinase activity. http://purl.obolibrary.org/obo/GO_0099004 CAMK signaling pathway HGNC:23658 DELEC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23658 HGNC:23657 GNE biolink:OntologyClass mondo http://identifiers.org/hgnc/23657 MONDO:0012869 intellectual disability, autosomal dominant 22 biolink:Disease mondo OMIM:612337|MESH:C567346|DOID:0070052|UMLS:C3808184 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene. MESH:C567346|http://identifiers.org/omim/612337|UMLS:C3808184|DOID:0070052 http://purl.obolibrary.org/obo/MONDO_0012869 chromosome 1Q43-q44 deletion syndrome|autosomal dominant intellectual disability 22|intellectual disability, autosomal dominant 22; MRD22|mental retardation, autosomal dominant type 22|chromosome 1Qter deletion syndrome|autosomal dominant non-syndromic intellectual disability 22|mental retardation, autosomal dominant 22; MRD22|intellectual disability, autosomal dominant 22|ZBTB18 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 22|autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18|intellectual disability, autosomal dominant type 22|MRD22|autosomal dominant mental retardation 22 MONDO:0010206 hypotrichosis 8 biolink:Disease mondo OMIM:278150|DOID:0110705|MESH:C566950|UMLS:C3279470 Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene. UMLS:C3279470|MESH:C566950|DOID:0110705|http://identifiers.org/omim/278150 http://purl.obolibrary.org/obo/MONDO_0010206 hypotrichosis 8|LAH3|woolly hair, autosomal recessive 1, with or without hypotrichosis|hypotrichosis type 8|LPAR6 hypotrichosis|hypotrichosis, localized, autosomal recessive 3|hypotrichosis caused by mutation in LPAR6|HYPT8|HYPT8|hypotrichosis 8; HYPT8 MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia biolink:Disease mondo MESH:C537070|GARD:0010128|DOID:0090088|ICD10:E23.6|Orphanet:52901|SCTID:758664007|OMIM:229070|UMLS:C1856716 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene. http://identifiers.org/omim/229070|MESH:C537070|UMLS:C1856716|DOID:0090088|SNOMEDCT:758664007|ORPHA:52901 http://purl.obolibrary.org/obo/MONDO_0009239 follicle-stimulating hormone deficiency, isolated|hypogonadotropic hypogonadism caused by mutation in FSHB|isolated follicle stimulating hormone deficiency|hypogonadotropic hypogonadism 24 without anosmia; HH24|FSHB hypogonadotropic hypogonadism|isolated FSH deficiency|HH24|isolated follicle-stimulating hormone (FSH) deficiency|isolated follicle-stimulating hormone deficiency|hypogonadotropic hypogonadism 24 without anosmia ordo_disease MONDO:0009238 hereditary folate malabsorption biolink:Disease mondo GARD:0012983|SCTID:62578003|UMLS:C0342705|ICD10:D52.8|OMIM:229050|MESH:C562799|Orphanet:90045 Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders. http://identifiers.org/omim/229050|ORPHA:90045|SNOMEDCT:62578003|UMLS:C0342705|MESH:C562799 http://purl.obolibrary.org/obo/MONDO_0009238 congenital defect of folate absorption|folic acid transport defect|congenital folate malabsorption|folate malabsorption, hereditary ordo_disease|gard_rare MONDO:0010205 Wolman disease with hypolipoproteinemia and acanthocytosis biolink:Disease mondo OMIM:278100|MESH:C564736|UMLS:C1848436 MESH:C564736|http://identifiers.org/omim/278100|UMLS:C1848436 http://purl.obolibrary.org/obo/MONDO_0010205 Wolman disease with hypolipoproteinemia and acanthocytosis MONDO:0012867 hereditary spastic paraplegia 38 biolink:Disease mondo MESH:C567349|ICD10:G11.4|DOID:0110789|Orphanet:171617|UMLS:C2676732|OMIM:612335 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15. UMLS:C2676732|DOID:0110789|ORPHA:171617|MESH:C567349|http://identifiers.org/omim/612335 http://purl.obolibrary.org/obo/MONDO_0012867 autosomal dominant spastic paraplegia 38|autosomal dominant spastic paraplegia type 38|hereditary spastic paraplegia type 38|spastic paraplegia 38, autosomal dominant; SPG38|SPG38|spastic paraplegia 38, autosomal dominant ordo_disease MONDO:0009237 focal epithelial hyperplasia biolink:Disease mondo DOID:5362|UMLS:C0206067|SCTID:6121001|MESH:D017573|NCIT:C97083|ICD9:528.79|OMIM:229045|EFO:0007275 Hyperplasia characterized by the presence of a focal proliferation of epithelial cells. http://identifiers.org/omim/229045|DOID:5362|UMLS:C0206067|SNOMEDCT:6121001|NCIT:C97083|MESH:D017573 http://purl.obolibrary.org/obo/MONDO_0009237 multifocal epithelial hyperplasia|heck's disease|heck disease|FEH, oral|focal epithelial hyperplasia, oral MONDO:0010208 wrinkly skin syndrome biolink:Disease mondo ICD10:Q82.8|Orphanet:2834|OMIM:278250|ICD9:259.8|MESH:C536750|SCTID:238875009|UMLS:C0406587|GARD:0000273 Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). SNOMEDCT:238875009|UMLS:C0406587|ORPHA:2834|MESH:C536750|http://identifiers.org/omim/278250 http://purl.obolibrary.org/obo/MONDO_0010208 wrinkly skin syndrome; WSS|WSS|wrinkled skin syndrome|wrinkly skin syndrome ordo_clinical_subtype MONDO:0009236 Kandori fleck retina biolink:Disease mondo OMIM:228990|Orphanet:99179|ICD10:H35.5|UMLS:C0271257|MESH:C562701|SCTID:765191009 Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness. ORPHA:99179|SNOMEDCT:765191009|UMLS:C0271257|http://identifiers.org/omim/228990|MESH:C562701 http://purl.obolibrary.org/obo/MONDO_0009236 FLECK retina of KANDORI ordo_malformation_syndrome MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant biolink:Disease mondo OMIM:612336|ICD10:D68.8|UMLS:C3278211|MESH:C567077|MedDRA:10068370|Orphanet:26349 Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency. http://identifiers.org/omim/612336|UMLS:C2363755|ORPHA:26349|UMLS:C3278211|MEDDRA:10068370|MESH:C567077 http://purl.obolibrary.org/obo/MONDO_0012868 THPH5|protein S acquired deficiency|thrombophilia due to protein S deficiency, autosomal dominant; THPH5|hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant|thrombophilia due to protein S deficiency, autosomal dominant|autosomal dominant hereditary thrombophilia due to congenital protein S deficiency ordo_disease MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome biolink:Disease mondo GARD:0005594|Orphanet:1409|SCTID:239023005|MESH:C536746|OMIM:278200 UMLS:C0406718|ORPHA:1409|MESH:C536746|http://identifiers.org/omim/278200|SNOMEDCT:239023005 http://purl.obolibrary.org/obo/MONDO_0010207 woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears|wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome|Salamon syndrome|woolly hair hypotrichosis everted lower lip and outstanding ears ordo_malformation_syndrome MONDO:0009235 familial benign flecked retina biolink:Disease mondo OMIM:228980|MESH:C565564|UMLS:C1856718|Orphanet:363989|ICD10:H35.5 Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits. ORPHA:363989|UMLS:C1856718|http://identifiers.org/omim/228980|MESH:C565564 http://purl.obolibrary.org/obo/MONDO_0009235 FLECK retina, familial benign|FRFB|FLECK retina, familial benign; FRFB ordo_disease MONDO:0010209 xanthinuria type I biolink:Disease mondo MESH:C562584|ICD10:E79.8|Orphanet:93601|GARD:0005621|SCTID:72682008|OMIM:278300 Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. http://identifiers.org/omim/278300|MESH:C562584|SNOMEDCT:72682008|ORPHA:93601 http://purl.obolibrary.org/obo/MONDO_0010209 XO deficiency|xanthinuria type 1|XOR deficiency|xanthine oxidoreductase deficiency|xanthinuria, type I; XAN1|xanthinuria, type I|hereditary xanthinuria, type I|xanthine oxidase deficiency|XDH deficiency|xanthine dehydrogenase deficiency|XAN1|isolated xanthine oxidase deficiency|type 1 xanthinuria|xanthinuria, type 1 ordo_etiological_subtype MONDO:0009234 congenital high-molecular-weight kininogen deficiency biolink:Disease mondo MESH:C537060|OMIM:228960|NCIT:C98946|ICD10:D68.8|GARD:0002684|ICD9:286.9|Orphanet:483|SCTID:27312002 A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. MESH:C537060|http://identifiers.org/omim/228960|ORPHA:483|SNOMEDCT:27312002|NCIT:C98946 http://purl.obolibrary.org/obo/MONDO_0009234 HMWK|Fitzgerald trait kininogen deficiency, total, included|Flaujeac trait|Flaujeac factor deficiency|Flaujeac trait, included|Hmwk deficiency|kininogen deficiency, high molecular weight|kininogen deficiency, high molecular weight and Low molecular weight|Williams trait|kininogen deficiency, total|high molecular weight kininogen deficiency|Fitzgerald trait|high-molecular-weight kininogen deficiency, congenital|HMWK deficiency|Williams trait, included|kininogen deficiency, high molecular weight and LOW molecular weight, included ordo_disease|gard_rare MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome biolink:Disease mondo UMLS:C1856727|ICD10:Q87.8|MESH:C537226|Orphanet:2256|GARD:0000320|SCTID:716094008|OMIM:228940 Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. MESH:C537226|UMLS:C1856727|http://identifiers.org/omim/228940|SNOMEDCT:716094008|ORPHA:2256 http://purl.obolibrary.org/obo/MONDO_0009233 Saito Kuba Tsuruta syndrome|FIBULOULNAR aplasia or hypoplasia with renal abnormalities|Saito-Kuba-Tsuruta syndrome|Fibulo ulnar hypoplasia renal anomalies ordo_malformation_syndrome MONDO:0009232 Fuhrmann syndrome biolink:Disease mondo DOID:0090067|MESH:C538189|UMLS:C1856728|Orphanet:2854|GARD:0002410|ICD10:Q74.8|SCTID:721296004|OMIM:228930 Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. ORPHA:2854|http://identifiers.org/omim/228930|UMLS:C1856728|SNOMEDCT:721296004|DOID:0090067|MESH:C538189 http://purl.obolibrary.org/obo/MONDO_0009232 Fuhrmann syndrome|Fuhrmann-Rieger-de Sousa syndrome|fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome|bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies gard_rare|ordo_malformation_syndrome MONDO:0009231 fibular hypoplasia and complex brachydactyly biolink:Disease mondo ICD10:Q73.8|MESH:C537931|Orphanet:2639|GARD:0009879|SCTID:715474004|UMLS:C1856738|DOID:0050790|KEGG:H00467|OMIM:228900 ORPHA:2639|http://identifiers.org/omim/228900|MESH:C537931|UMLS:C1856738|DOID:0050790|SNOMEDCT:715474004 http://purl.obolibrary.org/obo/MONDO_0009231 fibular aplasia-complex brachydactyly syndrome|Du Pan syndrome|fibular hypoplasia and complex brachydactyly gard_rare|ordo_malformation_syndrome MONDO:0012872 THPH9 biolink:Disease mondo MESH:C567341|OMIM:612348 MESH:C567341|http://identifiers.org/omim/612348 http://purl.obolibrary.org/obo/MONDO_0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator; THPH9|THPH9|hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator|thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0009230 fibrosclerosis, multifocal biolink:Disease mondo OMIM:228800|ICD9:710.8|SCTID:111210001|ICD10:M35.5|GARD:0005697|MESH:C537375 MESH:C537375|http://identifiers.org/omim/228800|SNOMEDCT:111210001 http://purl.obolibrary.org/obo/MONDO_0009230 retroperitoneal fibrosis, familial|multifocal fibrosclerosis|fibrosclerosis, multifocal|mediastinal fibrosis, familial MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type biolink:Disease mondo OMIM:612350|ICD10:Q79.6|MESH:C567340|UMLS:C2676510|Orphanet:157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. ORPHA:157965|MESH:C567340|http://identifiers.org/omim/612350|UMLS:C2676510 http://purl.obolibrary.org/obo/MONDO_0012873 SCD-EDS|Ehlers-Danlos syndrome, spondylodysplastic type, 3; EDSSPD3|EDSSPD3|spondylocheirodysplasia, Ehlers-Danlos syndrome-like|EDS, spondylocheirodysplastic type|Ehlers-Danlos syndrome, spondylodysplastic type, 3 ordo_disease MONDO:0012870 chromosome 2q31.2 deletion syndrome biolink:Disease mondo MESH:C567344|OMIM:612345|DOID:0060416|UMLS:C2676724 DOID:0060416|MESH:C567344|http://identifiers.org/omim/612345|UMLS:C2676724 http://purl.obolibrary.org/obo/MONDO_0012870 chromosome 2q31.2 deletion syndrome MONDO:0010211 xeroderma pigmentosum group C biolink:Disease mondo NCIT:C114770|DOID:0110844|SCTID:25784009|UMLS:C2752147|OMIM:278720|Orphanet:276255|ICD10:Q82.1|GARD:0005626|MESH:C567886 An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. UMLS:C2752147|NCIT:C114770|DOID:0110844|ORPHA:276255|http://identifiers.org/omim/278720|SNOMEDCT:25784009|MESH:C567886 http://purl.obolibrary.org/obo/MONDO_0010211 xeroderma pigmentosum, complementation group C; XPC|XP-C|xeroderma pigmentosum, type 3|xeroderma pigmentosum III|XP3|xeroderma pigmentosum 3|XP, Group C|XP group C|xeroderma pigmentosum, complementation group C|XPC|XPCC|xeroderma pigmentosum, complementation group type C|xeroderma pigmentosum group type C gard_rare MONDO:0010210 xeroderma pigmentosum group A biolink:Disease mondo UMLS:C0268135|GARD:0005624|DOID:0110843|OMIM:278700|NCIT:C3965|SCTID:43477006|Orphanet:276249|ICD10:Q82.1 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene. SNOMEDCT:43477006|DOID:0110843|ORPHA:276249|http://identifiers.org/omim/278700|UMLS:C0268135|NCIT:C3965 http://purl.obolibrary.org/obo/MONDO_0010210 xeroderma pigmentosum, complementation group type a|xeroderma pigmentosum, complementation group A; XPA|xeroderma pigmentosum group type A|xeroderma pigmentosum, type 1|XPA xeroderma pigmentosum|XP group A|xeroderma pigmentosum 1|XP1|XPA|XP, group A|xeroderma pigmentosum caused by mutation in XPA|xeroderma pigmentosum, complementation group A|xeroderma pigmentosum complementation group A|XP-A gard_rare MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 biolink:Disease mondo MESH:C567343|OMIM:612347|GARD:0010364 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene. MESH:C567343|http://identifiers.org/omim/612347 http://purl.obolibrary.org/obo/MONDO_0012871 Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1|Jervell and Lange-Nielsen syndrome type 2|KCNE1 Jervell and Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome 2; JLNS2|Jervell and Lange-Nielsen syndrome 2|JLNS2 gard_rare MONDO:0010213 xeroderma pigmentosum group E biolink:Disease mondo NCIT:C114771|DOID:0110846|Orphanet:276261|OMIM:278740|UMLS:C1848411|ICD10:Q82.1|MESH:C564732|SCTID:56048001|GARD:0005627 An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. SNOMEDCT:56048001|MESH:C564732|DOID:0110846|NCIT:C114771|ORPHA:276261|UMLS:C1848411|http://identifiers.org/omim/278740 http://purl.obolibrary.org/obo/MONDO_0010213 XP, Group E|xeroderma pigmentosum 5|XP5|XPE|XP-E|xeroderma pigmentosum, type 5|XP group E|xeroderma pigmentosum, complementation group type E|xeroderma pigmentosum V|xeroderma pigmentosum group type E|XPe|xeroderma pigmentosum, complementation group E gard_rare MONDO:0012876 heparin cofactor 2 deficiency biolink:Disease mondo OMIM:612356|MESH:C562865|SCTID:234468009|ICD9:286.3|UMLS:C0398626 SNOMEDCT:234468009|MESH:C562865|http://identifiers.org/omim/612356|UMLS:C0398626 http://purl.obolibrary.org/obo/MONDO_0012876 Hcf2 deficiency|thrombophilia due to heparin cofactor 2 deficiency|Hcf 2 deficiency|heparin cofactor II deficiency MONDO:0012877 major affective disorder 8 biolink:Disease mondo OMIM:612357|MESH:C567530 http://identifiers.org/omim/612357|MESH:C567530 http://purl.obolibrary.org/obo/MONDO_0012877 bipolar affective disorder|MAJOR affective disorder 8; MAFD8|major affective disorder 8|MAFD8 MONDO:0010212 xeroderma pigmentosum group D biolink:Disease mondo DOID:0110845|MESH:C562591|NCIT:C3967|OMIM:278730|Orphanet:276258|ICD10:Q82.1|SCTID:68637004 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene. DOID:0110845|ORPHA:276258|MESH:C562591|http://identifiers.org/omim/278730|SNOMEDCT:68637004|NCIT:C3967 http://purl.obolibrary.org/obo/MONDO_0010212 xeroderma pigmentosum caused by mutation in ERCC2|XP, Group H|XPH|XP8|xeroderma pigmentosum VIII|XP group H|XP, Group D|xeroderma pigmentosum 4|XP4 xeroderma pigmentosum VIII, formerly|XP4|xeroderma pigmentosum, complementation group D|XP4 xeroderma pigmentosum VIII|XP group D|xeroderma pigmentosum IV|XPD|XPDC|ERCC2 xeroderma pigmentosum|xeroderma pigmentosum, complementation group type D|xeroderma pigmentosum group type D|XP, Group H, formerly|XP-D|xeroderma pigmentosum, complementation group D; XPD MONDO:0010215 xeroderma pigmentosum group F biolink:Disease mondo MESH:C562592|NCIT:C3968|SCTID:42530008|OMIM:278760|ICD10:Q82.1|Orphanet:276264|GARD:0005628|DOID:0110848 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. SNOMEDCT:42530008|DOID:0110848|ORPHA:276264|MESH:C562592|http://identifiers.org/omim/278760|NCIT:C3968 http://purl.obolibrary.org/obo/MONDO_0010215 XP6|xeroderma pigmentosum 6|xeroderma pigmentosum, complementation group F|xeroderma pigmentosum, type F/Cockayne syndrome|xeroderma pigmentosum, type 6|XP group F|xeroderma pigmentosum VI|XPF|xeroderma pigmentosum, complementation group type F|xeroderma pigmentosum group type F|ERCC4 xeroderma pigmentosum|XP, group F|xeroderma pigmentosum, complementation group F; XPF|XP-F|xeroderma pigmentosum caused by mutation in ERCC4 gard_rare MONDO:0012874 POROK6 biolink:Disease mondo OMIM:612353|UMLS:C2676508|MESH:C567339 MESH:C567339|http://identifiers.org/omim/612353|UMLS:C2676508 http://purl.obolibrary.org/obo/MONDO_0012874 porokeratosis 6, multiple types; POROK6|porokeratosis, disseminated superficial actinic, 4|porokeratosis 6, disseminated superficial actinic type; POROK6|porokeratosis 6, disseminated superficial|porokeratosis 6, disseminated superficial actinic type|POROK6 MONDO:0010214 xeroderma pigmentosum variant type biolink:Disease mondo UMLS:C1848410|ICD10:Q82.1|GARD:0005630|NCIT:C141367|Orphanet:90342|OMIM:278750|MESH:C536766|DOID:0110847 Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. MESH:C536766|UMLS:C0432328|DOID:0110847|UMLS:C1848410|NCIT:C141367|http://identifiers.org/omim/278750|ORPHA:90342 http://purl.obolibrary.org/obo/MONDO_0010214 xeroderma pigmentosum with normal DNA repair rates|xeroderma pigmentosum variant|xeroderma pigmentosum, variant type|xeroderma pigmentosum with normal DNA repair rates|photosensitivity with defective DNA synthesis|XPV|xeroderma pigmentosum, variant type; XPV gard_rare|ordo_disease MONDO:0012875 inflammatory bowel disease 21 biolink:Disease mondo OMIM:612354|DOID:0110906|UMLS:C2676507|MESH:C567338 An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11. DOID:0110906|MESH:C567338|http://identifiers.org/omim/612354|UMLS:C2676507 http://purl.obolibrary.org/obo/MONDO_0012875 inflammatory bowel disease 21|inflammatory bowel disease type 21|inflammatory bowel disease 21; IBD21|IBD21 GO:0038065 collagen-activated signaling pathway biolink:OntologyClass mondo A series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0038065 collagen-activated signalling pathway GO:0038064 collagen receptor activity biolink:OntologyClass mondo Combining with a collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. http://purl.obolibrary.org/obo/GO_0038064 transmembrane collagen receptor activity MONDO:0000899 obsolete malignant epithelioid hemangioendothelioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000899 MONDO:0022266 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022266 MONDO:0022267 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022267 GO:1905292 regulation of neural crest cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of neural crest cell differentiation. http://purl.obolibrary.org/obo/GO_1905292 GO:0099055 integral component of postsynaptic membrane biolink:OntologyClass mondo The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/GO_0099055 GO:1905293 negative regulation of neural crest cell differentiation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell differentiation. http://purl.obolibrary.org/obo/GO_1905293 down regulation of neural crest cell differentiation|inhibition of neural crest cell differentiation|downregulation of neural crest cell differentiation|down-regulation of neural crest cell differentiation GO:1905294 positive regulation of neural crest cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of neural crest cell differentiation. http://purl.obolibrary.org/obo/GO_1905294 up-regulation of neural crest cell differentiation|up regulation of neural crest cell differentiation|activation of neural crest cell differentiation|upregulation of neural crest cell differentiation MONDO:0009289 obsolete glycogen storage disease IC biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009289 MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB biolink:Disease mondo ICD10:E74.0|Orphanet:79259|SCTID:30102006|OMIM:232220|NCIT:C122661|UMLS:C0342749|SCTID:237965005|OMIM:232240|MESH:C562594|GARD:0002515 Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency. MESH:C562594|SNOMEDCT:237965005|NCIT:C122661|http://identifiers.org/omim/232240|http://identifiers.org/omim/232220|SNOMEDCT:30102006|ORPHA:79259|UMLS:C0342749 http://purl.obolibrary.org/obo/MONDO_0009288 glycogen storage disease Id|glycogen storage disease type Ic|glycogen storage disease Ic; GSD1C|GSD Ic|GSD due to G6P deficiency type IB|glycogenosis due to glucose-6-phosphatase transport defect type IB|glycogen storage disease due to G6P deficiency type IB|GSD type IB|glycogen storage disease Ib; GSD1B|G6P deficiency type IB|glycogen storage disease type IB|GSD Ib|G6PT deficiency|glucose-6-phosphate Transport defect|glycogenosis type 1b|GSD due to G6PT deficiency|glycogen storage disease type I non-a|GSDIb|GSD1B|Gsd1C|GSD type 1 non a|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease Ib|GSD type 1b|glycogen storage disease Ic|glycogen storage disease type 1b|G6P translocase deficiency|glycogenosis type IB ordo_clinical_subtype MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA biolink:Disease mondo UMLS:CN205860|GARD:0007864|ICD10:E74.0|UMLS:C2919796|SCTID:444707001|OMIM:232200|UMLS:CN069618|Orphanet:79258 Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency. UMLS:CN205860|http://identifiers.org/omim/232200|UMLS:C2919796|UMLS:CN069618|ORPHA:79258|SNOMEDCT:444707001 http://purl.obolibrary.org/obo/MONDO_0009287 hepatorenal form of glycogen storage disease|glycogenosis due to glucose-6-phosphatase deficiency type Ia|GSD due to G6P deficiency type Ia|glycogen storage disease due to G6P deficiency type Ia|glucose-6-phosphatase deficiency|glycogen storage disease Ia; GSD1A|hepatorenal glycogenosis|glycogen storage disease 1A|glycogen storage disease type Ia|Von Gierke disease|GSD Ia|glycogen storage disease caused by mutation in G6PC|glycogenosis due to glucose-6-phosphatase deficiency type 1a|GSDIa|GSD1A|GSD due to G6P deficiency type 1a|G6PC glycogen storage disease|G6P deficiency type 1a|glucose-6-phosphatase deficiency glycogen storage disease|GSD type 1a|glycogen storage disease Ia|glycogen storage disease type 1a|glycogenosis type Ia|GSD1|glycogen storage disease 1 ordo_clinical_subtype MONDO:0022263 obsolete congenital hepatic fibrosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022263 MONDO:0009286 gluteal muscles, absence of biolink:Disease mondo OMIM:231970|MESH:C535561|GARD:0008518 http://identifiers.org/omim/231970|MESH:C535561 http://purl.obolibrary.org/obo/MONDO_0009286 congenital absence of gluteal muscles|gluteal muscle, absence of|gluteal muscles, absence of|absence of gluteal muscle gard_rare MONDO:0010286 syndromic X-linked intellectual disability Siderius type biolink:Disease mondo Orphanet:85287|UMLS:C1846055|GARD:0009704|OMIM:300263|ICD10:Q87.8|DOID:0060812|MESH:C537333 MESH:C537333|ORPHA:85287|DOID:0060812|UMLS:C1846055|http://identifiers.org/omim/300263 http://purl.obolibrary.org/obo/MONDO_0010286 Siderius Hamel syndrome|Siderius X-linked intellectual disability syndrome; MRXSSD|Siderius X-linked intellectual disability syndrome|X-linked intellectual disability Hamel type|X-linked mental retardation Hamel type|mental retardation X-linked Siderius type|X-linked intellectual disability, Siderius type|intellectual deficit X-linked Siderius type|mental retardation syndrome, X-linked, Siderius type|mental retardation, X-linked, syndromic, Siderius type|intellectual disability syndrome, X-linked, Siderius type|intellectual disability X-linked Siderius type|Siderius-Hamel syndrome|Siderius X-linked mental retardation syndrome; MRXSSD|intellectual disability, X-linked, syndromic, Siderius type|MRXSSD|Siderius X-linked mental retardation syndrome|MRXSSD ordo_malformation_syndrome MONDO:0009285 gamma-glutamyl transpeptidase deficiency biolink:Disease mondo OMIM:231950|SCTID:78586005|GARD:0010099|ICD9:270.8|ICD10:E72.8|MESH:C536836|UMLS:C0268524|Orphanet:33573 Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine. UMLS:C0268524|ORPHA:33573|MESH:C536836|http://identifiers.org/omim/231950|SNOMEDCT:78586005 http://purl.obolibrary.org/obo/MONDO_0009285 gamma-glutamyltranspeptidase deficiency|rare inborn error of glutathione hydrolase activity|GGT1 deficiency|GGT deficiency|glutathionuria|inborn glutathione hydrolase activity disorder|GTG deficiency|inborn error of glutathione hydrolase activity|rare inborn error of glutathione hydrolase activity|gamma-glutamyltransferase deficiency ordo_disease MONDO:0010285 syndromic X-linked intellectual disability Abidi type biolink:Disease mondo ICD10:Q87.8|MESH:C535556|OMIM:300262|Orphanet:85273|DOID:0060818|UMLS:C1846056|GARD:0009157 X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. ORPHA:85273|MESH:C535556|DOID:0060818|UMLS:C1846056|http://identifiers.org/omim/300262 http://purl.obolibrary.org/obo/MONDO_0010285 short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes|syndromic X-linked intellectual disability Abidi type|MRXSAB|syndromic X-linked mental retardation Abidi type|ABIDI X-linked mental retardation syndrome|intellectual disability, X-linked syndromic, Abidi type|intellectual disability X-linked Abidi type|mental retardation, X-linked syndromic, Abidi type|X-linked intellectual disability, Abidi type|ABIDI X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic, Abidi type|ABIDI X-linked mental retardation syndrome; MRXSAB|intellectual disability, X-linked, syndromic, Abidi type|ABIDI X-linked intellectual disability syndrome; MRXSAB ordo_malformation_syndrome HGNC:11642 ZEB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11642 MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria biolink:Disease mondo Orphanet:289849|MESH:C565545|ICD10:D55.1|OMIM:231900|UMLS:C1856399 ORPHA:289849|UMLS:C1856399|MESH:C565545|http://identifiers.org/omim/231900 http://purl.obolibrary.org/obo/MONDO_0009284 GSSDE|glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to|glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to; GSSDE ordo_clinical_subtype MONDO:0010288 adrenomyodystrophy biolink:Disease mondo MESH:C538051|UMLS:C1846044|SCTID:763311001|Orphanet:977|OMIM:300270|GARD:0000562 Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. MESH:C538051|SNOMEDCT:763311001|ORPHA:977|UMLS:C1846044|http://identifiers.org/omim/300270 http://purl.obolibrary.org/obo/MONDO_0010288 adrenomyodystrophy ordo_disease HGNC:11641 TCF7L2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11641 MONDO:0010287 hereditary spastic paraplegia 16 biolink:Disease mondo MESH:C536643|UMLS:C1846046|GARD:0009585|DOID:0110769|Orphanet:100997|ICD10:G11.4|OMIM:300266 A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2. ORPHA:100997|MESH:C536643|DOID:0110769|UMLS:C1846046|http://identifiers.org/omim/300266 http://purl.obolibrary.org/obo/MONDO_0010287 spastic paraplegia 16|spastic paraplegia 16, X-linked|spastic paraplegia 16, X-linked; SPG16|X-linked spastic paraplegia type 16|hereditary spastic paraplegia type 16|SPG16|X-linked spastic paraplegia 16 ordo_disease MONDO:0009283 glutaric acidemia type 3 biolink:Disease mondo ICD10:E72.3|OMIM:231690|GARD:0012469|SCTID:238070003|ICD9:270.2|MESH:C562818|Orphanet:35706|UMLS:C0342873 Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive. MESH:C562818|ORPHA:35706|http://identifiers.org/omim/231690|UMLS:C0342873|SNOMEDCT:238070003 http://purl.obolibrary.org/obo/MONDO_0009283 GA III|glutaric aciduria (disease) caused by mutation in SUGCT|glutaric aciduria type III|Ga 3|glutaric aciduria type 3|glutaric aciduria III|glutaryl-CoA oxidase deficiency|GA3|glutaryl-Coa oxidase deficiency|glutaric aciduria III; GA3|SUGCT glutaric aciduria (disease)|glutaric aciduria 3|glutaric acidemia type III ordo_disease|gard_rare MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency biolink:Disease mondo OMIM:231680|GARD:0006523|ICD10:E71.3|DOID:0060358|ICD10:E71.313|NCIT:C84907|UMLS:C0268596|Orphanet:26791 A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure. NCIT:C84907|UMLS:C0268596|NCIT:C99102|http://identifiers.org/omim/231680|ORPHA:26791|DOID:0060358 http://purl.obolibrary.org/obo/MONDO_0009282 glutaric acidemia type 2|glutaric acidemia 2B|glutaric acidemia 2A|glutaric acidemia 2|multiple acyl Coenzyme A dehydrogenase deficiency|Etfa deficiency|ethylmalonic-Adipicaciduria|Etfdh deficiency|Etfb deficiency|glutaric aciduria type 2|MAD deficiency|Ga 2|EMA|multiple acyl-CoA dehydrogenase deficiency|glutaric acidemia type II|electron transfer flavoprotein deficiency|glutaric acidemia type II|glutaric aciduria 2|MADD|electron transfer flavoprotein ubiquinone oxidoreductase deficiency|multiple acyl-CoA dehydrogenase deficiency; MADD|glutaric aciduria, type 2|glutaric acidemia 2C ordo_disease HGNC:11647 TCIRG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11647 MONDO:0010289 intellectual disability, X-linked 72 biolink:Disease mondo MESH:C564547|OMIM:300271|UMLS:C1846038 MESH:C564547|UMLS:C1846038|http://identifiers.org/omim/300271 http://purl.obolibrary.org/obo/MONDO_0010289 mental retardation, X-linked 72; MRX72|intellectual disability, X-linked type 72|mental retardation, X-linked 72|intellectual disability, X-linked 72|MRX72|mental retardation, X-linked type 72|intellectual disability, X-linked 72; MRX72 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency biolink:Disease mondo Orphanet:25|UMLS:C0268595|GARD:0006522|OMIM:231670|MESH:C536833|NCIT:C99101|ICD10:E72.3|SCTID:76175005 Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. ORPHA:25|UMLS:C0268595|NCIT:C99101|http://identifiers.org/omim/231670|MESH:C536833|SNOMEDCT:76175005 http://purl.obolibrary.org/obo/MONDO_0009281 glutaric acidemia, type 1|GA1|GCDHD|glutaric aciduria type 1|glutaryl-CoA dehydrogenase deficiency|Ga 1|glutaric acidemia type I|glutaryl-coenzyme A dehydrogenase deficiency|glutaric acidemia I; GA1|glutaric acidemia 1|glutaric acidemia I|glutaric acidemia type 1|glutaric aciduria type I|glutaric aciduria, type 1|glutaric aciduria 1 ordo_disease MONDO:0009280 monosodium glutamate sensitivity biolink:Disease mondo OMIM:231630|MESH:C562377|UMLS:C0008127|SCTID:56344009|ICD9:989.89 SNOMEDCT:56344009|UMLS:C0008127|http://identifiers.org/omim/231630|MESH:C562377 http://purl.obolibrary.org/obo/MONDO_0009280 monosodium glutamate sensitivity|Chinese restaurant syndrome MONDO:0010280 ptosis, hereditary congenital 2 biolink:Disease mondo MESH:C564553|UMLS:C1846128|OMIM:300245 MESH:C564553|http://identifiers.org/omim/300245|UMLS:C1846128 http://purl.obolibrary.org/obo/MONDO_0010280 ptosis, hereditary congenital 2|Ptos2|ptosis, X-linked|ptosis, hereditary congenital type 2 MONDO:0010282 mycobacterium tuberculosis, susceptibility to, X-linked biolink:Disease mondo OMIM:300259 http://identifiers.org/omim/300259 http://purl.obolibrary.org/obo/MONDO_0010282 MTBSX|mycobacterium tuberculosis, susceptibility to, X-linked predisposition MONDO:0010281 Danon disease biolink:Disease mondo UMLS:C0878677|EFO:1001333|Orphanet:34587|OMIM:300257|MESH:D052120|SCTID:419097006|ICD10:E74.0|ICD9:759.89|GARD:0009730|NCIT:C84735|DOID:0050437 Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. DOID:0050437|MESH:D052120|UMLS:C0878677|http://identifiers.org/omim/300257|NCIT:C84735|ORPHA:34587|SNOMEDCT:419097006 http://purl.obolibrary.org/obo/MONDO_0010281 pseudoglycogenosis 2|lysosomal glycogen storage disease with normal acid maltase activity|lysosomal glycogen storage disease without acid maltase deficiency (formerly)|glycogen storage disease limited to the heart|vacuolar cardiomyopathy and myopathy X-linked|GSD IIb, formerly|X-linked vacuolar cardiomyopathy and myopathy|Danon disease|GSD IIb|pseudoglycogenosis II|GSD due to LAMP-2 deficiency|glycogen storage disease IIb|glycogen storage cardiomyopathy|GSD2B (formerly)|LAMP2 lysosomal glycogen storage disease|ANTOPOL disease|glycogen storage disease due to LAMP-2 deficiency|glycogenosis due to LAMP-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogen storage disease type 2b (formerly)|lysosomal glycogen storage disease caused by mutation in LAMP2|lysosomal glycogen storage disease without acid maltase deficiency|Antopol disease|vacuolar cardiomyopathy and myopathy, X-linked|glycogen storage disease type IIb ordo_disease|gard_rare MONDO:0010284 Armfield syndrome biolink:Disease mondo ICD10:Q87.8|OMIM:300261|DOID:0050764|MESH:C564551|SCTID:719017003|UMLS:C1846057|Orphanet:85276 X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. ORPHA:85276|SNOMEDCT:719017003|DOID:0050764|MESH:C564551|UMLS:C1846057|http://identifiers.org/omim/300261 http://purl.obolibrary.org/obo/MONDO_0010284 Armfield X-linked intellectual disability syndrome; MRXSA|Armfield X-linked mental retardation syndrome; MRXSA|intellectual disability syndrome, X-linked, Armfield type|Armfield X-linked mental retardation syndrome|syndromic X-linked mental retardation Armfield type|X-linked intellectual disability, Armfield type|intellectual disability, X-linked, syndromic, Armfield type|Armfield X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic, Armfield type|MRXSA|mental retardation syndrome, X-linked, Armfield type|Armfield syndrome|syndromic X-linked intellectual disability Armfield type ordo_malformation_syndrome MONDO:0010283 syndromic X-linked intellectual disability Lubs type biolink:Disease mondo DOID:0060799|ICD10:Q87.8|GARD:0009781|Orphanet:1762|ICD10:Q99.8|UMLS:C1846058|ICD9:758.89|MESH:C537723|SCTID:702816000|NCIT:C126747|OMIM:300260 Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown. ORPHA:1762|MESH:C537723|NCIT:C126747|DOID:0060799|SNOMEDCT:702816000|http://identifiers.org/omim/300260|UMLS:C1846058 http://purl.obolibrary.org/obo/MONDO_0010283 MRXSL|MECP2 Duplication syndrome|Lubs X-linked intellectual disability syndrome; MRXSL|Lubs X-linked mental retardation syndrome|Lubs X-linked mental retardation syndrome|MECP2 duplication syndrome|Lubs X-linked mental retardation syndrome (formerly)|mental retardation, X-linked, with recurrent respiratory infections|intellectual disability, X-linked, with recurrent respiratory infections|X-linked intellectual disability-hypotonia-recurrent infections syndrome|Lubs X-linked intellectual disability syndrome|intellectual disability, X-linked, Lubs type (formerly)|intellectual disability, X-linked, syndromic, Lubs type|XLMR syndrome, Lubs type|Lubs X-linked intellectual disability syndrome|Lubs X-linked mental retardation syndrome; MRXSL|telomeric duplication Xq|mental retardation, X-linked, syndromic, Lubs type|mental retardation, X-linked, Lubs type (formerly)|distal duplication Xq|Lubs X-linked intellectual disability syndrome (formerly)|trisomy Xq28 ordo_malformation_syndrome HGNC:23631 NPSR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/23631 HP:0001417 X-linked inheritance biolink:PhenotypicFeature mondo UMLS:C0241764|MSH:D050172|SNOMEDCT_US:263934009 A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. http://purl.obolibrary.org/obo/HP_0001417 X-linked form|X-linked MONDO:0009299 46 XX gonadal dysgenesis biolink:Disease mondo NCIT:C120197|UMLS:C0949595|DOID:14450|SCTID:95198001|OMIMPS:233300|DC:0000000|ICD10:Q99.1|Orphanet:243|MESH:D023961 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. MESH:D023961|UMLS:C0949595|NCIT:C120197|SNOMEDCT:95198001|ORPHA:243|DOID:14450|UMLS:C0685837 http://purl.obolibrary.org/obo/MONDO_0009299 XX gonadal dysgenesis|46,XX ovarian dysgenesis|follicular stimulating hormone-resistant ovaries|46,XX gonadal dysgenesis|hypergonadotropic ovarian dysgenesis|ovarian dysgenesis|FSH-RO|XX-GD|XX female gonadal dysgenesis|46,XX pure gonadal dysgenesis|46,XX complete gonadal dysgenesis ordo_malformation_syndrome HP:0001419 X-linked recessive inheritance biolink:PhenotypicFeature mondo UMLS:C1845977 A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. http://purl.obolibrary.org/obo/HP_0001419 X-linked recessive MONDO:0009298 GOMBO syndrome biolink:Disease mondo MESH:C537284|UMLS:C1856274|GARD:0002537|OMIM:233270 http://identifiers.org/omim/233270|MESH:C537284|UMLS:C1856274 http://purl.obolibrary.org/obo/MONDO_0009298 GOMBO syndrome|Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type biolink:Disease mondo OMIM:300232|OMIM:300660|UMLS:C1846148|Orphanet:83629|ICD10:G11.4|MESH:C567065|Orphanet:168448|ICD10:Q77.7|MESH:C536671|GARD:0004891 Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy. http://identifiers.org/omim/300660|MESH:C567065|MESH:C536671|ORPHA:83629|ORPHA:168448|http://identifiers.org/omim/300232|UMLS:C1846148 http://purl.obolibrary.org/obo/MONDO_0010275 LKMCD|SEMD, X-linked, with mental deterioration|SEMD X-linked with mental deterioration|leukoencephalopathy with metaphyseal chondrodysplasia|spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration|leukoencephalopathy with metaphyseal chondrodysplasia; LKMCD|spondyloepimetaphyseal dysplasia x-linked with mental deterioration ordo_disease MONDO:0009297 familial renal glucosuria biolink:Disease mondo DOID:9432|ICD9:271.4|MedDRA:10038457|SCTID:267430007|MESH:D006030|UMLS:C0017980|UMLS:C3245525|OMIM:233100|ICD10:E74.8|GARD:0007548|EFO:1001151|COHD:193170|Orphanet:69076 Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). DOID:9432|UMLS:C3245525|UMLS:C0017980|http://identifiers.org/omim/233100|ORPHA:69076|MESH:D006030|SNOMEDCT:267430007 http://purl.obolibrary.org/obo/MONDO_0009297 Glys1|GLYS|renal glycosuria|glycosuria, renal|renal glucosuria; GLYS|familial renal glucosuria|renal glucosuria|SGLT2 deficiency|renal diabetes gard_rare|ordo_disease HGNC:11654 TCOF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11654 HGNC:11653 TCN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11653 MONDO:0009296 glycoprotein storage disease biolink:Disease mondo MESH:C565538|UMLS:C1856275|SCTID:7810004|UMLS:C0268220|OMIM:232900 UMLS:C0268220|UMLS:C1856275|SNOMEDCT:7810004|http://identifiers.org/omim/232900|MESH:C565538 http://purl.obolibrary.org/obo/MONDO_0009296 glycoprotein storage disorder|glycoprotein storage disease MONDO:0010274 TGCT1 biolink:Disease mondo OMIM:300228|UMLS:C1846164|MESH:C564559 MESH:C564559|UMLS:C1846164|http://identifiers.org/omim/300228 http://purl.obolibrary.org/obo/MONDO_0010274 TGCT1|testicular germ cell tumor 1; TGCT1|testicular germ cell tumor 1 MONDO:0010277 syndromic X-linked intellectual disability Shashi type biolink:Disease mondo Orphanet:85286|SCTID:718900002|OMIM:300238|GARD:0004119|ICD10:Q87.8|UMLS:C4305085|UMLS:C1846145|MESH:C537135|DOID:0060826 X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. http://identifiers.org/omim/300238|UMLS:C1846145|UMLS:C4305085|MESH:C537135|ORPHA:85286|SNOMEDCT:718900002|DOID:0060826 http://purl.obolibrary.org/obo/MONDO_0010277 intellectual disability X-linked syndromic 11|MRXS11|mental retardation, X-linked, syndromic 11|mental retardation, X-linked, syndromic 11, Shashi type|mental retardation, X-linked, Shashi type|Shashi X-linked mental retardation syndrome|mental retardation X-linked Shashi type|intellectual disability, X-linked, Shashi type|X-linked intellectual disability, Shashi type|X-linked intellectual disability Shashi type|mental retardation X-linked syndromic 11|intellectual disability, X-linked, syndromic 11|intellectual disability, X-linked, syndromic 11, Shashi type|mental retardation, X-linked, syndromic 11; MRXS11|Shashi X-linked intellectual disability syndrome|syndromic X-linked intellectual disability type 11|X-linked mental retardation Shashi type|SMRXS|intellectual disability, X-linked, syndromic 11; MRXS11|intellectual disability X-linked Shashi type ordo_malformation_syndrome MONDO:0009295 glycogen storage disease VII biolink:Disease mondo ICD10:E74.0|GARD:0005686|ICD10:E74.09|Orphanet:371|NCIT:C118437|MedDRA:10053241|MESH:D006014|UMLS:C0017926|SCTID:89597008|OMIM:232800|DOID:11721 Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood. DOID:11721|UMLS:C0017926|SNOMEDCT:89597008|NCIT:C118437|MEDDRA:10053241|ORPHA:371|http://identifiers.org/omim/232800|MESH:D006014 http://purl.obolibrary.org/obo/MONDO_0009295 glycogen storage disease caused by mutation in PFKM|glycogen storage disease due to muscle phosphofructokinase deficiency|glycogenosis due to muscle phosphofructokinase deficiency|Tarui disease|muscle phosphofructokinase deficiency|glycogen storage disease type VII|GSDVII|GSD type 7|GSD7|Pfkm deficiency|glycogen storage disease VII; GSD7|GSD type VII|phosphofructokinase deficiency|GSD 7|phosphofructokinase myopathy|glycogen storage disease type 7|glycogen storage disease 7|GSD due to muscle phosphofructokinase deficiency|PFKM glycogen storage disease|glycogen storage disease VII|glycogen storage disease, type VII|glycogenosis type 7|glycogenosis type VII ordo_disease MONDO:0009294 glycogen storage disease VI biolink:Disease mondo MESH:D006013|UMLS:C0017925|NCIT:C126875|DOID:2754|MedDRA:10053240|OMIM:232700|ICD10:E74.09|ICD10:E74.0|GARD:0006529|Orphanet:369|SCTID:29291001 Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease. SNOMEDCT:29291001|UMLS:C0017925|MEDDRA:10053240|ORPHA:369|http://identifiers.org/omim/232700|MESH:D006013|NCIT:C126875|DOID:2754 http://purl.obolibrary.org/obo/MONDO_0009294 GSD type 6|glycogenosis type VI|liver glycogen phosphorylase deficiency|PYGL glycogen storage disease|GSD due to liver glycogen phosphorylase deficiency|glycogen storage disease type 6|phosphorylase deficiency glycogen-storage disease of liver|glycogenosis type 6|glycogen storage disease due to liver glycogen phosphorylase deficiency|GSD type VI|hers disease|hepatic glycogen phosphorylase deficiency|glycogen storage disease caused by mutation in PYGL|hepatic phosphorylase deficiency|hers' disease|glycogenosis due to liver glycogen phosphorylase deficiency|glycogen storage disease VI; GSD6|GSD6|GSD 6|glycogen storage disease 6|hepatophosphorylase deficiency glycogenosis|glycogen storage disease VI|glycogen storage disease type VI ordo_disease MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male biolink:Disease mondo MESH:C564557|UMLS:C1846147|OMIM:300233 MESH:C564557|UMLS:C1846147|http://identifiers.org/omim/300233 http://purl.obolibrary.org/obo/MONDO_0010276 radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE MONDO:0009293 glycogen storage disease V biolink:Disease mondo ICD10:E74.04|MESH:D006012|DOID:2746|OMIM:232600|UMLS:C0017924|ICD10:E74.0|Orphanet:368|SCTID:55912009|GARD:0006528|NCIT:C84738|MedDRA:10018462 Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance. NCIT:C84738|UMLS:C0017924|MESH:C537276|ORPHA:368|UMLS:C2936916|http://identifiers.org/omim/232600|MEDDRA:10018462|MESH:D006012|SNOMEDCT:55912009|DOID:2746 http://purl.obolibrary.org/obo/MONDO_0009293 glycogenosis due to muscle glycogen phosphorylase deficiency|GSD type V|GSD type 5|PYGM glycogen storage disease|McArdle disease|Mcardle disease|GSD due to muscle glycogen phosphorylase deficiency|glycogen storage disease type 5|glycogenosis type V|glycogen storage disease, type V|muscle glycogen phosphorylase deficiency|glycogenosis type 5|glycogen storage disease caused by mutation in PYGM|myophosphorylase deficiency|glycogen storage disease V; GSD5|glycogen storage disease type V|McArdle's disease|GSD 5|glycogen storage disease due to muscle glycogen phosphorylase deficiency|GSD5|glycogen storage disease 5|glycogen storage disease V|Pygm deficiency|McArdle type glycogen storage disease ordo_disease MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome biolink:Disease mondo UMLS:C1846129|OMIM:300244|Orphanet:88630|MESH:C564554|ICD10:Q87.2 Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. http://identifiers.org/omim/300244|UMLS:C1846129|ORPHA:88630|MESH:C564554 http://purl.obolibrary.org/obo/MONDO_0010279 terminal osseous dysplasia|terminal osseous dysplasia and pigmentary defects|terminal osseous dysplasia; TOD|TOD|osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula|Odpd|Odpf syndrome ordo_malformation_syndrome MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency biolink:Disease mondo UMLS:C0017923|ICD10:E74.09|NCIT:C84737|ICD10:E74.0|Orphanet:367|DOID:2750|UMLS:CN204783|OMIM:232500|ICD9:277.6|MedDRA:10053249|SCTID:124267007|GARD:0002520 Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases. UMLS:CN204783|UMLS:C1563715|NCIT:C84737|UMLS:C0017923|MEDDRA:10053249|SNOMEDCT:124267007|http://identifiers.org/omim/232500|ORPHA:367|DOID:2750 http://purl.obolibrary.org/obo/MONDO_0009292 GSD type 4|GSD IV, neuromuscular form, adult, with isolated myopathy|glycogen storage disease, type IV|brancher deficiency glycogenosis|Gbe1 deficiency|cirrhosis, familial, with deposition of abnormal glycogen|GSD IV, neuromuscular form, childhood|glycogenosis 4|glycogenosis type IV|glycogenosis due to glycogen branching enzyme deficiency|glycogenosis type 4|glycogen storage disease type 4|glycogen storage disease IV|amylopectinosis|Andersen's disease|GSD IV|GSD IV, neuromuscular form, fatal perinatal|branching-transferase deficiency glycogenosis|GSD 4|GBE1 glycogen storage disease|GSD type IV|glycogen storage disease 4|GSD IV, neuromuscular form, congenital|GSD due to glycogen branching enzyme deficiency|brancher deficiency|GSD IV, classic hepatic|glycogen storage disease type IV|glycogen branching enzyme deficiency|Andersen disease|GSD4|deficiency of 1,4-alpha-glucan branching enzyme|glycogen storage disease IV; GSD4|glycogen storage disease caused by mutation in GBE1|GSD IV, nonprogressive hepatic ordo_disease MONDO:0010278 Christianson syndrome biolink:Disease mondo DOID:0060825|Orphanet:85278|OMIM:300243|GARD:0010572|SCTID:702354007|UMLS:C2678194|MESH:C567484|ICD9:759.89|ICD10:Q87.8 Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. UMLS:C1846130|http://identifiers.org/omim/300243|UMLS:C2678194|MESH:C567484|ORPHA:85278|MESH:C537450|SNOMEDCT:702354007|DOID:0060825 http://purl.obolibrary.org/obo/MONDO_0010278 intellectual disability, X-linked syndromic, Christianson type|MRXSCH|mental retardation, microcephaly, epilepsy, and ataxia syndrome|MRXS Christianson|intellectual disability, X-linked, syndromic, Christianson type|X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome|Angelman-like syndrome x-linked|intellectual disability, X-linked, syndromic, Christianson type; MRXSCH|intellectual disability, microcephaly, epilepsy, and ataxia syndrome|Angelman-like syndrome, X-linked|X-linked Angelman-like syndrome|mental retardation, X-linked, syndromic, Christianson type|X-linked intellectual disability, South African type|intellectual disability x-linked syndromic Christianson type|intellectual disability microcephaly epilepsy and ataxia syndrome|mental retardation, X-linked syndromic, Christianson type|mental retardation, X-linked, syndromic, Christianson type; MRXSCH|X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy gard_rare|ordo_malformation_syndrome MONDO:0009291 glycogen storage disease III biolink:Disease mondo ICD10:E74.0|DOID:2748|MESH:D006010|ICD10:E74.03|OMIM:232400|GARD:0009442|MedDRA:10053250|Orphanet:366|UMLS:C0017922|SCTID:66937008|NCIT:C84736|UMLS:CN204781 Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. NCIT:C84736|UMLS:CN204781|UMLS:C0017922|SNOMEDCT:66937008|MEDDRA:10053250|http://identifiers.org/omim/232400|ORPHA:366|UMLS:C2936915|MESH:D006010|DOID:2748 http://purl.obolibrary.org/obo/MONDO_0009291 GSD type 3|glycogenosis type III|glycogen storage disease IIID|glycogen storage disease caused by mutation in AGL|glycogen storage disease IIIC|glycogen storage disease due to glycogen debranching enzyme deficiency|Agl deficiency|amylo 1,6 glucosidase deficiency|glycogen storage disease type III|glycogen storage disease IIIb|glycogen storage disease, type III|glycogen storage disease IIIa|GDE deficiency|Gde deficiency|glycogen storage disease III; GSD3|glycogenosis due to glycogen debranching enzyme deficiency|Cori disease|glycogenosis type 3|glycogen storage disease III|glycogen storage disease type 3|Cori-Forbes disease|deficiency of dextrin|AGL glycogen storage disease|glycogen storage disease 3|GSD due to glycogen debranching enzyme deficiency|glycogen Debrancher deficiency|GSDIII|limit dextrinosis|amylo-1,6-glucosidase deficiency|Forbes disease|deficiency of debranching enzyme|GSD3 ordo_disease MONDO:0009290 glycogen storage disease II biolink:Disease mondo NCIT:C84734|UMLS:C0017921|GARD:0002503|SCTID:274864009|MedDRA:10053185|DOID:2752|Orphanet:365|UMLS:C1968741|GARD:0005714|ICD10:E74.02|OMIM:232300|ICD10:E74.0 Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal. UMLS:C0017921|MEDDRA:10053185|http://identifiers.org/omim/232300|ORPHA:365|MESH:D006009|DOID:2752|SNOMEDCT:274864009|UMLS:C1968741|NCIT:C84734 http://purl.obolibrary.org/obo/MONDO_0009290 glycogenosis, generalized, Cardiac form|deficiency of alpha-glucosidase|glycogen storage disease caused by mutation in GAA|deficiency of glucoamylase|glucosidase acid-1,4-alpha deficiency|GSD2|Pompe disease|GAA deficiency|Cardiomegalia Glycogenica diffusa|lysosomal alpha-1,4-glucosidase deficiency|glycogen storage disease due to acid maltase deficiency|generalized glycogenosis|glycogenosis type 2|deficiency of maltase|GSD type II|glycogenosis due to acid maltase deficiency|Alpha-1,4-glucosidase deficiency|glycogen storage disease type 2|GSD II|Alpha-1,4-glucosidase acid deficiency|GSD 2|GAA glycogen storage disease|glycogen storage disease 2|glycogen storage disease type II|Aglucosidase alfa|glycogen storage disease II|glycogen storage disease II; GSD2|glycogenosis, type 2|deficiency of lysosomal alpha-glucosidase|GSD type 2|Pompe's disease|glycogenosis type II|glycogen storage disease, type II|acid maltase deficiency|acid maltase deficiency disease|GSD due to acid maltase deficiency gard_rare|clingen|ordo_disease MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome biolink:Disease mondo Orphanet:456328|OMIM:300219|MESH:C564561|UMLS:C1846169 X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. MESH:C564561|ORPHA:456328|http://identifiers.org/omim/300219|UMLS:C1846169 http://purl.obolibrary.org/obo/MONDO_0010271 myotubular myopathy with abnormal genital development|Xq28 contiguous gene deletion syndrome ordo_disease MONDO:0010270 syndromic X-linked intellectual disability 7 biolink:Disease mondo MESH:C537449|ICD10:Q87.8|GARD:0009156|Orphanet:85274|UMLS:C4304916|DOID:0060808|SCTID:719160009|OMIM:300218|UMLS:C1846170 Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. SNOMEDCT:719160009|ORPHA:85274|MESH:C537449|UMLS:C4304916|DOID:0060808|http://identifiers.org/omim/300218|UMLS:C1846170 http://purl.obolibrary.org/obo/MONDO_0010270 MRXS7|intellectual disability, X-linked syndromic 7|mental retardation, X-linked syndromic 7|Ahmad X-linked mental retardation syndrome|Ahmad X-linked intellectual disability syndrome|intellectual disability, X-linked, syndromic 7; MRXS7|X-linked intellectual disability, Ahmad type|intellectual disability, X-linked, syndromic 7|mental retardation X-linked syndromic 7|intellectual disability X-linked syndromic 7|mental retardation, obesity, hypogonadism, and tapering fingers|syndromic X-linked intellectual disability type 7|intellectual disability, obesity, hypogonadism, and tapering fingers|mental retardation, X-linked, syndromic 7|mental retardation, X-linked, syndromic 7; MRXS7 ordo_malformation_syndrome MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal biolink:Disease mondo OMIM:300221|MESH:C538326|GARD:0009899 MESH:C538326|http://identifiers.org/omim/300221 http://purl.obolibrary.org/obo/MONDO_0010273 lymphoma, Hodgkin, X-linked pseudoautosomal|Hodgkin disease, X-linked Pseudoautosomal MONDO:0010272 obsolete syndromic X-linked intellectual disability type 10 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010272 GO:0002089 lens morphogenesis in camera-type eye biolink:OntologyClass mondo The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/GO_0002089 lens morphogenesis in camera-style eye|lens morphogenesis GO:0014070 response to organic cyclic compound biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://purl.obolibrary.org/obo/GO_0014070 response to organic cyclic substance GO:0002087 regulation of respiratory gaseous exchange by nervous system process biolink:OntologyClass mondo A process carried out by the nervous system that is required for the proper control of respiratory gaseous exchange. This process occurs in the respiratory center of the brain in vertebrates. http://purl.obolibrary.org/obo/GO_0002087 neurological control of breathing|regulation of respiratory gaseous exchange by neurological system process MONDO:0009269 geleophysic dysplasia 1 biolink:Disease mondo UMLS:C3278147|OMIM:231050 Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene. UMLS:C3278147|http://identifiers.org/omim/231050 http://purl.obolibrary.org/obo/MONDO_0009269 GPHYSD1|ADAMTSL2 geleophysic dysplasia|Geleophysic dysplasia type 1|geleophysic dysplasia caused by mutation in ADAMTSL2|GELEOPHYSIC dysplasia 1; GPHYSD1|geleophysic dysplasia 1 GO:0002088 lens development in camera-type eye biolink:OntologyClass mondo The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/GO_0002088 lens development in camera-style eye|lens development MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome biolink:Disease mondo OMIM:231005|GARD:0002445|UMLS:C1856476|Orphanet:2072|GARD:0012504|UMLS:C2931585|ICD10:E75.2 Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement. UMLS:C2931585|ORPHA:2072|http://identifiers.org/omim/231005|UMLS:C1856476 http://purl.obolibrary.org/obo/MONDO_0009268 pseudo Gaucher disease|Gaucher-like disease|Gaucher disease, type 3C|cardiovascular Gaucher disease|Gaucher disease type 3C|Gaucher disease - ophthalmoplegia - cardiovascular calcification|Gaucher disease, type IIIC ordo_clinical_subtype|gard_rare MONDO:0009267 Gaucher disease type III biolink:Disease mondo OMIM:231000|ICD10:E75.2|Orphanet:77261|GARD:0002443|DOID:0110959|SCTID:5963005 Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1. SNOMEDCT:5963005|DOID:0110959|ORPHA:77261|UMLS:C0268251|http://identifiers.org/omim/231000 http://purl.obolibrary.org/obo/MONDO_0009267 Gaucher disease, chronic neuronopathic type|GD III|Gaucher disease, type 3|Gaucher's disease type III|Gaucher disease, type 3B|Gaucher disease, Norrbottnian type|Gaucher disease, type 3A|Gaucher disease, juvenile and adult, cerebral|Gaucher disease, Subacute neuronopathic type|Gaucher disease type 3|Gaucher disease, subacute neuronopathic type|Gd 3|Gaucher disease, type III|cerebral juvenile and adult form of Gaucher disease|chronic neuronopathic Gaucher disease ordo_clinical_subtype GO:0002082 regulation of oxidative phosphorylation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/GO_0002082 OXPHOS MONDO:0009266 Gaucher disease type II biolink:Disease mondo ICD10:E75.2|SCTID:12246008|GARD:0002442|OMIM:230900|DOID:0110958|Orphanet:77260 Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. http://identifiers.org/omim/230900|DOID:0110958|ORPHA:77260|UMLS:C0268250|SNOMEDCT:12246008 http://purl.obolibrary.org/obo/MONDO_0009266 GD II|Gaucher disease, infantile cerebral|Gaucher's disease type II|Gd 2|Gaucher disease, acute neuronopathic type|Gaucher disease type 2|infantile cerebral Gaucher disease|Gaucher disease, type 2|Gaucher disease, type II|acute neuronopathic Gaucher disease ordo_clinical_subtype MONDO:0009265 Gaucher disease type I biolink:Disease mondo Orphanet:77259|GARD:0002441|OMIM:230800|DOID:0110957|ICD10:E75.2 Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. http://identifiers.org/omim/230800|UMLS:C1961835|DOID:0110957|ORPHA:77259 http://purl.obolibrary.org/obo/MONDO_0009265 Gaucher's disease type I|acid Beta-glucosidase deficiency|Gaucher disease type 1|Gaucher disease, type I|glucocerebrosidase deficiency|Gd 1|non-cerebral juvenile Gaucher disease|Gba deficiency|Gaucher disease, type 1|GD I|Gaucher disease, noncerebral juvenile ordo_clinical_subtype MONDO:0010264 X-linked adrenal hypoplasia congenita biolink:Disease mondo OMIM:300200|UMLS:C0342482|SCTID:93235007|DOID:0080156|Orphanet:95702|GARD:0000555|NCIT:C123725|ICD10:E27.1 A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. http://identifiers.org/omim/300200|NCIT:C123725|SNOMEDCT:93235007|DOID:0080156|UMLS:C0342482|ORPHA:95702 http://purl.obolibrary.org/obo/MONDO_0010264 adrenal insufficiency, progressive, and hypogonadotropic hypogonadism|AHC with HHG|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|cytomegalic adrenocortical hypoplasia|cytomegalic congenital adrenal hypoplasia|X-linked congenital adrenal hypoplasia|AHC with isolated gonadotropin deficiency|adrenal hypoplasia, congenital; AHC|X-linked AHC|mineralocorticoid deficiency, isolated|AHC|Addison disease, X-linked|adrenal hypoplasia congenita|congenital adrenal hypoplasia|adrenal hypoplasia, congenital|adrenal hypoplasia, congenital, with precocious puberty ordo_disease MONDO:0009264 gastroschisis biolink:Disease mondo EFO:1000949|NCIT:C84725|UMLS:C0265706|DOID:11044|MESH:D020139|ICD9:756.73|COHD:4218764|GARD:0008661|Orphanet:2368|OMIM:230750|MedDRA:10018046|ICD10:Q79.3|SCTID:72951007 Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated. http://identifiers.org/omim/230750|DOID:11044|MESH:D020139|NCIT:C84725|ORPHA:2368|MEDDRA:10018046|SNOMEDCT:72951007|UMLS:C0265706 http://purl.obolibrary.org/obo/MONDO_0009264 abdominal wall defects|gastroschisis|eventration|congenital fissure of the abdominal cavity|laparoschisis ordo_morphological_anomaly|gard_rare HGNC:11621 HNF1A biolink:OntologyClass mondo http://identifiers.org/hgnc/11621 MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome biolink:Disease mondo Orphanet:86818|ICD10:Q87.8|OMIM:300194|MESH:C564570|UMLS:C1846242|SCTID:720982007 UMLS:C1846242|SNOMEDCT:720982007|ORPHA:86818|MESH:C564570|http://identifiers.org/omim/300194 http://purl.obolibrary.org/obo/MONDO_0010263 Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis|Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|ATS-MR|chromosome Xq22.3 telomeric deletion syndrome|AMME complex|AMME syndrome|Ats-Mr ordo_disease MONDO:0009263 gapo syndrome biolink:Disease mondo OMIM:230740|SCTID:721843003|GARD:0000400|Orphanet:2067|ICD10:Q87.8 GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations http://identifiers.org/omim/230740|SNOMEDCT:721843003|ORPHA:2067|UMLS:C0406723 http://purl.obolibrary.org/obo/MONDO_0009263 Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|Growth retardation, alopecia, pseudoanodontia, and optic atrophy|Growth retardation, alopecia, pseudoanodontia and optic atrophy|gapo syndrome ordo_malformation_syndrome|gard_rare MONDO:0009262 GM1 gangliosidosis type 3 biolink:Disease mondo GARD:0002431|OMIM:230650|SCTID:238027003|Orphanet:79257|ICD10:E75.1 GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. http://identifiers.org/omim/230650|ORPHA:79257|SNOMEDCT:238027003 http://purl.obolibrary.org/obo/MONDO_0009262 gangliosidosis, generalized GM1, chronic type|gangliosidosis, generalized GM1, adult type|GM1-gangliosidosis, type III|Beta-galactosidase deficiency type 3|gangliosidosis, generalized GM1, type 3|adult-onset GM1 gangliosidosis|adult GM1 gangliosidosis|GM1-gangliosidosis, type 3|gangliosidosis GM1 type 3|gangliosidosis generalized GM1 chronic type ordo_clinical_subtype|gard_rare MONDO:0010266 intellectual disability, X-linked 58 biolink:Disease mondo MESH:C564566|OMIM:300210|UMLS:C1846174 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene. UMLS:C1846174|http://identifiers.org/omim/300210|MESH:C564566 http://purl.obolibrary.org/obo/MONDO_0010266 intellectual disability, X-linked type 58|intellectual disability, X-linked 58|non-syndromic X-linked intellectual disability caused by mutation in TSPAN7|intellectual disability, X-linked 58; MRX58|mental retardation, X-linked 58|TSPAN7 non-syndromic X-linked intellectual disability|MRX58|mental retardation, X-linked type 58|mental retardation, X-linked 58; MRX58 MONDO:0009261 GM1 gangliosidosis type 2 biolink:Disease mondo OMIM:230600|Orphanet:79256|SCTID:18756002|GARD:0010126|ICD10:E75.1 GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age. http://identifiers.org/omim/230600|SNOMEDCT:18756002|ORPHA:79256 http://purl.obolibrary.org/obo/MONDO_0009261 juvenile GM1 gangliosidosis|gangliosidosis, generalized GM1, juvenile type|GM1-gangliosidosis, type II|gangliosidosis generalized GM1 type 2|gangliosidosis generalized GM1 juvenile type|gangliosidosis, generalized GM1, type 2|late-infantile GM1 gangliosidosis|GM1-gangliosidosis, type 2|gangliosidosis, generalized GM1, late-infantile type gard_rare|ordo_clinical_subtype MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 biolink:Disease mondo Orphanet:79022|MESH:C564567|ICD10:Q87.3|DOID:0080342|OMIM:300209|UMLS:C1846175 Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. http://identifiers.org/omim/300209|UMLS:C1846175|DOID:0080342|ORPHA:79022|MESH:C564567 http://purl.obolibrary.org/obo/MONDO_0010265 OFD1 Simpson-Golabi-Behmel syndrome|SGBS2|Simpson-Golabi-Behmel syndrome caused by mutation in OFD1|Sgbs2|lethal variant of Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome, type 2|Simpson-Golabi-Behmel syndrome, type 2; SGBS2 ordo_malformation_syndrome MONDO:0010268 X-linked lissencephaly with abnormal genitalia biolink:Disease mondo OMIM:300215|SCTID:717632002|GARD:0012491|ICD10:Q04.3|MESH:C564563|Orphanet:452 X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit. SNOMEDCT:717632002|http://identifiers.org/omim/300215|ORPHA:452|MESH:C564563 http://purl.obolibrary.org/obo/MONDO_0010268 X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome|X-linked lissencephaly with ambiguous genitalia|XLAG syndrome|lissencephaly, X-linked, with ambiguous genitalia|X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|hydranencephaly and abnormal genitalia|lissencephaly, X-linked 2|X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies|hydranencephaly with abnormal genitalia|lissencephaly, X-linked, 2; LISX2|LISX2|lissencephaly, X-linked, 2|Xlisg|XLAG (X-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, X-linked, type 2 gard_rare|ordo_malformation_syndrome MONDO:0009260 GM1 gangliosidosis type 1 biolink:Disease mondo GARD:0006479|OMIM:230500|SCTID:238026007|ICD10:E75.1|Orphanet:79255 GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations. SNOMEDCT:238026007|http://identifiers.org/omim/230500|ORPHA:79255 http://purl.obolibrary.org/obo/MONDO_0009260 infantile GM1 gangliosidosis|GLB deficiency type 1|gangliosidosis, generalized GM1, type I, with Cardiac involvement|gangliosidosis generalized GM1 type 1|GM1-gangliosidosis, type I, with Cardiac involvement|GM1-gangliosidosis, type I|Norman-Landing disease|Glb1 deficiency|gangliosidosis generalized GM1 infantile form|Beta galactosidase deficiency type 1|gangliosidosis, generalized GM1, type 1|GM1-gangliosidosis, type 1|Beta-galactosidase-1 deficiency|gangliosidosis, generalized GM1, infantile form gard_rare|ordo_clinical_subtype MONDO:0010267 EMWX biolink:Disease mondo MESH:C564565|OMIM:300211|UMLS:C1846173 http://identifiers.org/omim/300211|UMLS:C1846173|MESH:C564565 http://purl.obolibrary.org/obo/MONDO_0010267 episodic muscle weakness, X-linked; EMWX|EMWX|episodic muscle weakness, X-linked HGNC:11623 TCF12 biolink:OntologyClass mondo http://identifiers.org/hgnc/11623 MONDO:0010269 Coats disease biolink:Disease mondo OMIM:300216|MedDRA:10015901|MESH:D058456|GARD:0006121|ICD10:H35.02|COHD:373756|Orphanet:190|ICD10:H35.0|UMLS:C0154832|DOID:7765|SCTID:360455002|ICD10:H35.07|ICD9:362.12 Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children. SNOMEDCT:360455002|MEDDRA:10015901|MESH:D058456|UMLS:C0154832|http://identifiers.org/omim/300216|DOID:7765|ORPHA:190 http://purl.obolibrary.org/obo/MONDO_0010269 retinal telangiectasis|Coats disease|Leber miliary aneurysm|Coats' disease|congenital retinal telangiectasia|Coats' syndrome|exudative retinopathy gard_rare|ordo_disease GO:0014063 negative regulation of serotonin secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin. http://purl.obolibrary.org/obo/GO_0014063 down-regulation of serotonin secretion|positive regulation of serotonin release|down regulation of serotonin secretion|inhibition of serotonin secretion|downregulation of serotonin secretion GO:0014062 regulation of serotonin secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of serotonin. http://purl.obolibrary.org/obo/GO_0014062 regulation of serotonin release MONDO:0010260 ACLLX biolink:Disease mondo OMIM:300158|MESH:C564574|UMLS:C1846273 MESH:C564574|http://identifiers.org/omim/300158|UMLS:C1846273 http://purl.obolibrary.org/obo/MONDO_0010260 ACLLX|arthrogryposis, congenital, LOWER limb, X-linked; ACLLX|arthrogryposis, congenital, LOWER limb, X-linked|arthrogryposis, X-linked, type V, formerly|arthrogryposis, X-linked, type V MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses biolink:Disease mondo UMLS:C1970936|OMIM:300184|MESH:C537159|GARD:0009601 MESH:C537159|UMLS:C1970936|http://identifiers.org/omim/300184 http://purl.obolibrary.org/obo/MONDO_0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses|hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response MONDO:0010261 microphthalmia, syndromic 2 biolink:Disease mondo OMIM:300166 http://identifiers.org/omim/300166 http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2; MCOPS2|microphthalmia, cataracts, radiculomegaly, and septal heart defects|Ofcd syndrome|Maa2, formerly|MCOPS2|Anop2, formerly|Maa2|microphthalmia, syndromic type 2|Anop2|microphthalmia, syndromic 2|oculofaciocardiodental syndrome GO:0014064 positive regulation of serotonin secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin. http://purl.obolibrary.org/obo/GO_0014064 stimulation of serotonin secretion|upregulation of serotonin secretion|positive regulation of serotonin release|up-regulation of serotonin secretion|up regulation of serotonin secretion|activation of serotonin secretion MONDO:0024893 toxocara canis infection (canine roundworms) biolink:Disease mondo UMLS:C2930846|MESH:C531834 UMLS:C2930846|MESH:C531834 http://purl.obolibrary.org/obo/MONDO_0024893 Toxocara catis infection (feline roundworms)|Human infection with the larvae of canine or feline roundworms OBO:mondo#has_onset has onset biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#has_onset MONDO:0022236 colpocephaly biolink:Disease mondo SCTID:253160006|GARD:0010008|MESH:C535973 Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. MESH:C535973|SNOMEDCT:253160006 http://purl.obolibrary.org/obo/MONDO_0022236 gard_rare MONDO:0010249 obsolete X-linked B cell surface antigen, mouse, homolog-like 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010249 MONDO:0009279 triple-A syndrome biolink:Disease mondo OMIM:231550|Orphanet:869|NCIT:C131005|SCTID:45414006|EFO:1001997|DOID:0050602|MESH:C536008|GARD:0000457|ICD9:255.41|ICD10:E27.4 Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. ORPHA:869|UMLS:C2931084|SNOMEDCT:45414006|UMLS:C0271742|MESH:C536008|MESH:C536009|NCIT:C131005|DOID:0050602|http://identifiers.org/omim/231550 http://purl.obolibrary.org/obo/MONDO_0009279 AAA|adrenal insufficiency-achalasia-alacrima syndrome|4A syndrome|3A syndrome|achalasia-addisonianism-alacrima syndrome; AAAS|achalasia-alacrima syndrome|Addisonian-achalasia syndrome|2A syndrome|quaternary A syndrome|AAAS|glucocorticoid deficiency and achalasia|AAA syndrome|triple-a syndrome|Double A syndrome|achalasia alacrima syndrome|achalasia-addisonianism-alacrima syndrome|triple A syndrome|hypoadrenalism with achalasia|alacrima-achalasia-addisonianism|alacrima-achalasia-adrenal insufficiency neurologic disorder|achalasia addisonianism alacrimia syndrome|achalasia-addisonianism-alacrimia syndrome|Allgrove syndrome|ACTH-resistant adrenal insufficiency, achalasia and alacrima|Addisonian achalasia syndrome gard_rare|ordo_disease MONDO:0024890 pineal parenchymal cell neoplasm biolink:Disease mondo NCIT:C6965|ICDO:9360/1|UMLS:C0031941 A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.) UMLS:C0031941|NCIT:C6965 http://purl.obolibrary.org/obo/MONDO_0024890 pineal parenchymal neoplasm|pineal parenchymal cell neoplasm|Pineocytic neoplasm|neoplasm of pineal gland|neoplasm of the pineal gland|pineal gland tumor|pineal gland neoplasm|Pineocytic tumor|pineal parenchymal cell tumor|pineal parenchymal tumor|tumor of pineal gland|tumor of the pineal gland MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency biolink:Disease mondo MESH:C535310|ICD10:E71.3|GARD:0009870|Orphanet:71212 Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure. MESH:C535310|ORPHA:71212 http://purl.obolibrary.org/obo/MONDO_0009278 medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency|M/SCHAD|HADH deficiency|L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency|had deficiency|M-SCHAD deficiency|SCHAD deficiency|hyperinsulinism due to SCHAD deficiency|3-alpha hydroxyacyl-CoA dehydrogenase deficiency|HADHSC deficiency|3-hydroxylacyl-CoA dehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency|3-hydroxyacyl-CoA dehydrogenase deficiency|3-hydroxyacyl-Coenzyme A dehydrogenase deficiency|hyperinsulinism due to glutamodehydrogenase deficiency|SCHAD deficiency, formerly|Hadh deficiency gard_rare|ordo_disease MONDO:0009277 glaucoma 3A biolink:Disease mondo NCIT:C148260|DOID:11211|ICD9:743.21|OMIM:231300 An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1. DOID:11211|NCIT:C148260|http://identifiers.org/omim/231300 http://purl.obolibrary.org/obo/MONDO_0009277 simple buphthalmos|glaucoma 3, primary congenital, type a|Primary Congenital glaucoma 3A|buphthalmos|GLC3A|glaucoma 3, primary congenital, A|glaucoma, primary open angle, adult-onset|glaucoma, congenital|glaucoma, primary open angle, juvenile-onset|buphthalmos|glaucoma 3, primary congenital, A; GLC3A MONDO:0024892 soft tissue amyloid neoplasm biolink:Disease mondo DOID:6755|UMLS:C0333572|ICD9:714.32|NCIT:C8323|UMLS:C1706802 A soft tissue neoplasm composed of acellular amyloid material. UMLS:C0333572|DOID:6755|NCIT:C8323|UMLS:C1706802 http://purl.obolibrary.org/obo/MONDO_0024892 amyloid neoplasm|amyloid tumor|soft tissue amyloid tumor|soft tissue amyloid neoplasm|amyloid tumor (morphologic abnormality) MONDO:0009276 Bernard-Soulier syndrome biolink:Disease mondo ICD10:D69.1|UMLS:C0005129|Orphanet:274|MESH:D001606|DOID:2217|GARD:0002470|NCIT:C84595|MedDRA:10057473|OMIM:231200|SCTID:234478007 Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination. DOID:2217|MEDDRA:10057473|UMLS:C0005129|NCIT:C84595|SNOMEDCT:234478007|MESH:D001606|ORPHA:274|http://identifiers.org/omim/231200 http://purl.obolibrary.org/obo/MONDO_0009276 Hemorrhagiparous thrombocytic dystrophy|giant platelet disease|Bernard-Soulier syndrome, type C|macrothrombocytopenia, familial Bernard-Soulier type|Bernard-Soulier syndrome, type B|bleeding disorder, Platelet-type, 1|Bernard-Soulier syndrome|Bernard-Soulier syndrome; BSS|Platelet glycoprotein 1b, deficiency of|giant platelet syndrome|deficiency of platelet glycoprotein 1b|thrombopathy, Bernard-Soulier|hemorrhagic dystrophic thrombocytopenia|Bernard Soulier syndrome|Platelet glycoprotein Ib deficiency|Von Willebrand Factor receptor deficiency|Bernard - Soulier thrombopathy|BSS|glycoprotein Ib, Platelet, deficiency of|Bernard-Soulier syndrome, type A1 ordo_disease MONDO:0024891 non-infectious meningitis biolink:Disease mondo UMLS:C0393442|SCTID:230155003 SNOMEDCT:230155003|UMLS:C0393442 http://purl.obolibrary.org/obo/MONDO_0024891 non-infective meningitis MONDO:0009275 neonatal hemochromatosis biolink:Disease mondo NCIT:C129980|MESH:C536394|ICD10:E83.1|OMIM:231100|Orphanet:446|GARD:0007172|UMLS:C0268059 Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 UMLS:C0268059|ORPHA:446|http://identifiers.org/omim/231100|MESH:C536394|NCIT:C129980 http://purl.obolibrary.org/obo/MONDO_0009275 giant cell Hepatitis|neonatal hepatitis (formerly)|hemochromatosis, neonatal|alloimmune Hepatitis, congenital|idiopathic neonatal hemochromatosis|neonatal Hepatitis, formerly|neonatal Hepatitis|giant cell Hepatitis (formerly)|Nh|giant cell Hepatitis, formerly|hemochromatosis neonatal|Nhc ordo_disease|gard_rare MONDO:0010253 migraine, familial typical, susceptibility to, 2 biolink:Disease mondo OMIM:300125 http://identifiers.org/omim/300125 http://purl.obolibrary.org/obo/MONDO_0010253 migraine, familial typical, susceptibility to, 2|migraine, familial typical, susceptibility to, type 2|migraine with or without aura, susceptibility to, 2|Mgr2|Mfts predisposition MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism biolink:Disease mondo OMIM:300123 http://identifiers.org/omim/300123 http://purl.obolibrary.org/obo/MONDO_0010252 mental retardation, X-linked, with panhypopituitarism|intellectual disability, X-linked, with isolated Growth hormone deficiency|mental retardation, X-linked, with isolated Growth hormone deficiency|intellectual disability, X-linked, with panhypopituitarism MONDO:0009274 ghosal hematodiaphyseal dysplasia biolink:Disease mondo Orphanet:1802|OMIM:231095|SCTID:389214003|ICD9:756.59|GARD:0010297|MESH:C565551 Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. SNOMEDCT:389214003|http://identifiers.org/omim/231095|ORPHA:1802|MESH:C565551 http://purl.obolibrary.org/obo/MONDO_0009274 Ghosal hematodiaphyseal dysplasia syndrome|ghosal hematodiaphyseal dysplasia|diaphyseal dysplasia-anemia syndrome|GHOSAL hematodiaphyseal dysplasia; GHDD|GHDD|Ghosal syndrome gard_rare|ordo_malformation_syndrome MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to biolink:Disease mondo UMLS:C1848042|OMIM:300136 http://identifiers.org/omim/300136|UMLS:C1848042 http://purl.obolibrary.org/obo/MONDO_0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to|Iddmx|insulin-dependent diabetes mellitus, X-linked, susceptibility to predisposition MONDO:0009273 hydatidiform mole, recurrent, 1 biolink:Disease mondo UMLS:C3463897|OMIM:231090 Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene. UMLS:C3463897|http://identifiers.org/omim/231090 http://purl.obolibrary.org/obo/MONDO_0009273 hydatidiform Mole, complete|complete hydatidiform mole caused by mutation in NLRP7|NLRP7 complete hydatidiform mole|hydatidiform Mole, recurrent, type 1|hydatidiform mole, recurrent, 1|gestational trophoblastic disease|HYDM1|hydatidiform MOLE, recurrent, 1; HYDM1|hydatidiform mole HGNC:11630 HNF1B biolink:OntologyClass mondo http://identifiers.org/hgnc/11630 MONDO:0009272 German syndrome biolink:Disease mondo Orphanet:2077|MESH:C562543|SCTID:733037000|ICD10:Q87.8|OMIM:231080|UMLS:C3887495 German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. MESH:C562543|ORPHA:2077|SNOMEDCT:733037000|http://identifiers.org/omim/231080|UMLS:C3887495 http://purl.obolibrary.org/obo/MONDO_0009272 German syndrome ordo_malformation_syndrome MONDO:0010254 obsolete hematopoietic stem cell kinetics, control of biolink:Disease mondo OMIM:300129 http://identifiers.org/omim/300129 http://purl.obolibrary.org/obo/MONDO_0010254 hematopoietic stem cell kinetics, control of MONDO:0009271 geroderma osteodysplastica biolink:Disease mondo Orphanet:2078|ICD10:Q82.8|ICD9:759.89|MESH:C537799|GARD:0000413|OMIM:231070|UMLS:C0432255|SCTID:254116003 Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. SNOMEDCT:254116003|ORPHA:2078|http://identifiers.org/omim/231070|MESH:C537799|UMLS:C0432255 http://purl.obolibrary.org/obo/MONDO_0009271 GO|GERODERMA OSTEODYSPLASTICUM; GO|GERODERMA OSTEODYSPLASTICUM|Geroderma osteodysplasticum|Gerodermia osteodysplastica|Walt Disney dwarfism gard_rare|ordo_malformation_syndrome MONDO:0010257 HPCX1 biolink:Disease mondo OMIM:300147|UMLS:C1846279 http://identifiers.org/omim/300147|UMLS:C1846279 http://purl.obolibrary.org/obo/MONDO_0010257 prostate cancer, hereditary, X-linked 1|prostate cancer, hereditary, X-linked 1; HPCX1|prostate cancer susceptibility, X-linked|HPCX1 MONDO:0010256 intellectual disability, X-linked 21 biolink:Disease mondo OMIM:300143 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene. http://identifiers.org/omim/300143 http://purl.obolibrary.org/obo/MONDO_0010256 mental retardation, X-linked 21; MRX21|MRX21|mental retardation, X-linked type 21|non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1|intellectual disability, X-linked 21; MRX21|intellectual disability, X-linked type 21|intellectual disability, X-linked 21|mental retardation, X-linked 34|IL1RAPL1 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 34|mental retardation, X-linked 21 MONDO:0009270 genito-palato-cardiac syndrome biolink:Disease mondo GARD:0002460|UMLS:C1856466|Orphanet:2075|ICD10:Q87.8|OMIM:231060|MESH:C537683 Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. ORPHA:2075|http://identifiers.org/omim/231060|MESH:C537683|UMLS:C1856466 http://purl.obolibrary.org/obo/MONDO_0009270 genito palato cardiac syndrome|Gardner-Silengo-Wachtel syndrome|GENITOPALATOCARDIAC syndrome|Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect gard_rare|ordo_malformation_syndrome MONDO:0010259 retinitis pigmentosa 24 biolink:Disease mondo OMIM:300155|ICD10:H35.5|UMLS:C3887982|GARD:0010389|DOID:0110416 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27. http://identifiers.org/omim/300155|UMLS:C3887982|DOID:0110416 http://purl.obolibrary.org/obo/MONDO_0010259 RP 24|retinitis pigmentosa 24; RP24|RP24|retinitis pigmentosa type 24|retinitis pigmentosa 24 gard_rare HGNC:11634 TCF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11634 MONDO:0010258 MEHMO syndrome biolink:Disease mondo OMIM:300987|UMLS:C1846278|Orphanet:85282|UMLS:C4310813|SCTID:722037004|DOID:0060801|MESH:C537451|GARD:0009178|OMIM:300148|ICD10:Q87.8 MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. DOID:0060801|SNOMEDCT:722037004|UMLS:C2931496|http://identifiers.org/omim/300148|UMLS:C1846278|http://identifiers.org/omim/300987|UMLS:C4310813|MESH:C537451|ORPHA:85282 http://purl.obolibrary.org/obo/MONDO_0010258 syndromic X-linked mental retardation 20|intellectual disability, X-linked, syndromic 20|mental retardation, X-linked, syndromic 25|MRXSBRK|syndromic X-linked intellectual disability 20|intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MEHMO|MRXS25|mental retardation, X-linked, syndromic, Borck type|MEHMO syndrome; MEHMO|intellectual disability, X-linked, syndromic, Borck type; MRXSBRK|mental retardation, X-linked, syndromic 20|MRXS20|MEHMO|mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MEHMO|X-linked MEHMO syndrome|intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|intellectual disability, X-linked, syndromic, Borck type|syndromic X-linked mental retardation 25|intellectual disability, X-linked, syndromic 25|intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|syndromic X-linked intellectual disability 25|X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome ordo_malformation_syndrome HGNC:11633 TCF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11633 MONDO:0034204 syndromic congenital sodium diarrhea biolink:Disease mondo Orphanet:563708 ORPHA:563708 http://purl.obolibrary.org/obo/MONDO_0034204 ordo_disease GO:0038023 signaling receptor activity biolink:OntologyClass mondo Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/GO_0038023 receptor activity|receptor activity involved in signal transduction MONDO:0010251 MRX50 biolink:Disease mondo UMLS:C1848087|MESH:C564713|OMIM:300115 http://identifiers.org/omim/300115|MESH:C564713|UMLS:C1848087 http://purl.obolibrary.org/obo/MONDO_0010251 intellectual disability, X-linked 50; MRX50|MRX50|mental retardation, X-linked 50; MRX50|mental retardation, X-linked 50|intellectual disability, X-linked 50 MONDO:0010250 MRX49 biolink:Disease mondo OMIM:300114 http://identifiers.org/omim/300114 http://purl.obolibrary.org/obo/MONDO_0010250 mental retardation, X-linked 15|MRX49|intellectual disability, X-linked 49|mental retardation, X-linked 49|intellectual disability, X-linked 49; MRX49|mental retardation, X-linked 49; MRX49|intellectual disability, X-linked 15 GO:0038024 cargo receptor activity biolink:OntologyClass mondo Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles. http://purl.obolibrary.org/obo/GO_0038024 receptor activity|transport receptor activity|receptor activity involved in receptor-mediated endocytosis|endocytic receptor activity NCBITaxon:65647 Ixodes holocyclus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_65647 paralysis tick MONDO:0000832 obsolete myeloid neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000832 MONDO:0000831 thrombotic disease biolink:Disease mondo NCIT:C26891|MESH:D013927|ICD9:453.9|SCTID:439127006|DOID:0060903 The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. SNOMEDCT:439127006|NCIT:C26891|MESH:D013927|DOID:0060903 http://purl.obolibrary.org/obo/MONDO_0000831 Thromboses|clot, blood|thrombus|thrombosis|blood clot|Clots, blood|blood Clots|thrombotic disorder MONDO:0000830 obsolete Waldenstroem's macroglobulinemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000830 HGNC:4329 GLRB biolink:OntologyClass mondo http://identifiers.org/hgnc/4329 MONDO:0012814 diastasis recti and weakness of the linea alba biolink:Disease mondo MESH:C567402|UMLS:C2677303|OMIM:612198 UMLS:C2677303|http://identifiers.org/omim/612198|MESH:C567402 http://purl.obolibrary.org/obo/MONDO_0012814 diastasis recti and weakness of the linea alba MONDO:0012815 Coats plus syndrome biolink:Disease mondo OMIMPS:612199|ICD10:H35.0|UMLS:CN282828|Orphanet:313838|SCTID:711482008|MESH:C567401|ICD9:348.89 Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. ORPHA:313838|SNOMEDCT:711482008|MESH:C567401|UMLS:CN282828 http://purl.obolibrary.org/obo/MONDO_0012815 cerebroretinal microangiopathy with calcfications and cysts|cerebroretinal microangiopathy with calcifications and cysts|CRMCC|CRMCC ordo_disease MONDO:0012812 developmental and epileptic encephalopathy, 4 biolink:Disease mondo SCTID:768666006|GARD:0012900|MESH:C567404|UMLS:C2677326|OMIM:612164 Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition. UMLS:C2677326|http://identifiers.org/omim/612164|MESH:C567404|SNOMEDCT:768666006 http://purl.obolibrary.org/obo/MONDO_0012812 EIEE4|early infantile epileptic encephalopathy caused by mutation in STXBP1|epileptic encephalopathy, early infantile, type 4|STXBP1-related early-onset encephalopathy|epileptic encephalopathy, early infantile, 4|STXBP1 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy 4|DEE4|epileptic encephalopathy, early infantile, 4; EIEE4 gard_rare MONDO:0012813 retinitis pigmentosa 29 biolink:Disease mondo DOID:0110378|MESH:C567403|GARD:0010378|UMLS:C2677325|ICD10:H35.5|OMIM:612165 A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34. UMLS:C2677325|http://identifiers.org/omim/612165|MESH:C567403|DOID:0110378 http://purl.obolibrary.org/obo/MONDO_0012813 retinitis pigmentosa 29; RP29|retinitis pigmentosa type 29|RP29|RP 29|retinitis pigmentosa 29 gard_rare MONDO:0012818 maturity-onset diabetes of the young type 9 biolink:Disease mondo SCTID:609576002|MESH:C567393|UMLS:C2677132|OMIM:612225|GARD:0010663|DOID:0111107 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene. UMLS:C2677132|http://identifiers.org/omim/612225|MESH:C567393|DOID:0111107|SNOMEDCT:609576002 http://purl.obolibrary.org/obo/MONDO_0012818 maturity-onset diabetes of the young (disease) caused by mutation in PAX4|maturity-onset diabetes of the young, type 9|maturity-onset diabetes of the young, type 9; MODY9|MODY PAX4 related|MODY9|type 9 maturity-onset diabetes of the young|MODY type 9|diabetes mellitus MODY type 9|PAX4 maturity-onset diabetes of the young (disease) gard_rare MONDO:0012819 diabetic ketoacidosis biolink:Disease mondo ICD9:250.10|ICD9:250.1|MedDRA:10012671|EFO:1000897|COHD:443727|SCTID:420422005|DOID:1837|MESH:D016883|UMLS:C0011880|OMIM:612227 The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. UMLS:C0011880|SNOMEDCT:420422005|DOID:1837|MESH:D016883|http://identifiers.org/omim/612227|NCIT:C50530 http://purl.obolibrary.org/obo/MONDO_0012819 KPD|diabetes mellitus, ketosis-prone; KPD|ketosis-prone diabetes mellitus|diabetes mellitus, ketosis-prone MONDO:0012816 atrial fibrillation, familial, 6 biolink:Disease mondo UMLS:C2677294|MESH:C567400|OMIM:612201 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene. UMLS:C2677294|http://identifiers.org/omim/612201|MESH:C567400 http://purl.obolibrary.org/obo/MONDO_0012816 atrial fibrillation, familial, 6; ATFB6|familial atrial fibrillation caused by mutation in NPPA|atrial fibrillation, familial, type 6|NPPA familial atrial fibrillation|ATFB6|atrial fibrillation, familial, 6 MONDO:0012817 Ewing sarcoma biolink:Disease mondo MedDRA:10015560|GARD:0006390|ICDO:9260/3|ONCOTREE:ES|ICD10:C40.3|ICD10:C40.2|MESH:D012512|ICD10:C40.1|Orphanet:319|ICD10:C41.4|OMIM:612219|ICD10:C41.3|UMLS:C0553580|ICD10:C41.2|DOID:3369|ICD10:C40.0|NCIT:C4817|EFO:0000174 A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms. MEDDRA:10015560|NCIT:C4817|http://identifiers.org/omim/612219|ORPHA:319|MESH:D012512|DOID:3369|UMLS:C0553580 http://purl.obolibrary.org/obo/MONDO_0012817 sarcoma, Ewing's|ES|ES|neuroepithelioma, peripheral|Ewing's tumor|Ewing sarcoma; ES|localized peripheral primitive neuroectodermal tumor|localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing tumor|localized Ewing sarcoma|Ewing sarcoma|peripheral primitive neuroectodermal tumor|Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewings sarcoma|localized Ewing's sarcoma|Ewings sarcoma-primitive neuroectodermal tumor|Ewing's sarcoma|Ewing's family localized tumor|localized Ewing's tumor|PNET of Thoracopulmonary region ordo_disease HGNC:4331 GLS biolink:OntologyClass mondo http://identifiers.org/hgnc/4331 HGNC:6996 MEF2C biolink:OntologyClass mondo http://identifiers.org/hgnc/6996 MONDO:0012821 CRCS5 biolink:Disease mondo OMIM:612230 http://identifiers.org/omim/612230 http://purl.obolibrary.org/obo/MONDO_0012821 colorectal cancer, susceptibility to, 5; CRCS5|colorectal cancer, susceptibility to, on chromosome 10|colorectal cancer, susceptibility to, 5|CRCS5 predisposition HGNC:6998 MEFV biolink:OntologyClass mondo http://identifiers.org/hgnc/6998 HGNC:11603 TBX4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11603 MONDO:0012822 CRCS6 biolink:Disease mondo OMIM:612231 http://identifiers.org/omim/612231 http://purl.obolibrary.org/obo/MONDO_0012822 colorectal cancer, susceptibility to, 6; CRCS6|colorectal cancer, susceptibility to, 6|CRCS6|colorectal cancer, susceptibility to, on chromosome 8Q23 predisposition HGNC:11602 TBX3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11602 MONDO:0012820 colorectal cancer, susceptibility to, 3 biolink:Disease mondo OMIM:612229 Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene. http://identifiers.org/omim/612229 http://purl.obolibrary.org/obo/MONDO_0012820 colorectal cancer, susceptibility to, type 3|colorectal cancer caused by mutation in SMAD7|colorectal cancer, susceptibility to, on chromosome 18|CRCS3|colorectal cancer, susceptibility to, 3; CRCS3|susceptibility to colorectal cancer 3|SMAD7 colorectal cancer|colorectal cancer, susceptibility to, 3 predisposition HGNC:11600 TBX22 biolink:OntologyClass mondo http://identifiers.org/hgnc/11600 MONDO:0000825 obsolete hypomyelinating leukodystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000825 MONDO:0000824 congenital diarrhea biolink:Disease mondo UMLS:CN232319|DC:0000503|DOID:0060774|OMIMPS:214700 DOID:0060774|UMLS:CN232319 http://purl.obolibrary.org/obo/MONDO_0000824 diarrhea, congenital MONDO:0000823 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000823 MONDO:0000822 obsolete lymphoproliferative syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000822 HGNC:4336 GLUD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4336 HGNC:6990 MECP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6990 MONDO:0000829 obsolete early-onset Parkinson disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000829 HGNC:4335 GLUD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4335 MONDO:0000828 juvenile-onset Parkinson disease biolink:Disease mondo DOID:0060893 DOID:0060893 http://purl.obolibrary.org/obo/MONDO_0000828 juvenile-onset Parkinson's disease MONDO:0000827 salmonellosis biolink:Disease mondo MESH:D012480|SCTID:302231008|UMLS:CN205993|Orphanet:795|UMLS:C0036117|EFO:1001418|ICD10:A01.4|DOID:0060859|ICD10:A02.2|ICD10:A01.3|ICD10:A02.1|ICD9:003.0|ICD10:A01.2|ICD10:A01.1|ICD10:A01.0|ICD9:003.9|MedDRA:10039447|ICD10:A02.0|ICD10:A02.9|ICD10:A02.8|COHD:133685|ICD9:003.8 Infections with bacteria of the genus salmonella. MEDDRA:10039447|DOID:0060859|UMLS:CN205993|MESH:D012480|SNOMEDCT:302231008|UMLS:C0036117|ORPHA:795 http://purl.obolibrary.org/obo/MONDO_0000827 Salmonella infection|rare form of salmonellosis|infections, Salmonella ordo_group_of_disorders UBERON:0006048 digit 1 biolink:AnatomicalEntity mondo A digit that is part of a digit 1 plus metapodial segment. http://purl.obolibrary.org/obo/UBERON_0006048 dewclaw|digit I|autopod digit 1|limb digit 1 MONDO:0000826 obsolete syndromic X-linked intellectual disability Cabezas type biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000826 HGNC:6993 MEF2A biolink:OntologyClass mondo http://identifiers.org/hgnc/6993 MONDO:0012809 histiocytoma, Angiomatoid fibrous biolink:Disease mondo NCIT:C6494|ONCOTREE:AFH|UMLS:C1266127|ICDO:8836/1|MESH:C563181|OMIM:612160 A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare. MESH:C563181|NCIT:C6494|http://identifiers.org/omim/612160|UMLS:C1266127 http://purl.obolibrary.org/obo/MONDO_0012809 angiomatoid malignant fibrous histiocytoma|histiocytoma, Angiomatoid fibrous|angiomatoid fibrous histiocytoma|AFH MONDO:0000843 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000843 MONDO:0000842 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000842 MONDO:0000841 obsolete metaphyseal dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000841 MONDO:0000840 dysbaric osteonecrosis biolink:Disease mondo DOID:0080018|SCTID:431591000124102 A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism. SNOMEDCT:431591000124102|DOID:0080018 http://purl.obolibrary.org/obo/MONDO_0000840 caisson disease of bone|DON MONDO:0012803 diarrhea-vomiting due to trehalase deficiency biolink:Disease mondo GARD:0010372|OMIM:612119|MESH:C562603|SCTID:84193000|UMLS:C0268187|ICD9:271.8|Orphanet:103909|ICD10:E74.3 This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms. ORPHA:103909|MESH:C562603|UMLS:C0268187|http://identifiers.org/omim/612119|SNOMEDCT:84193000 http://purl.obolibrary.org/obo/MONDO_0012803 isolated trehalose intolerance|trehalase deficiency|trehalose intolerance ordo_disease MONDO:0012804 hypertrophic cardiomyopathy 12 biolink:Disease mondo OMIM:612124|UMLS:C2677491|DOID:0110318 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. http://identifiers.org/omim/612124|UMLS:C2677491|DOID:0110318 http://purl.obolibrary.org/obo/MONDO_0012804 cardiomyopathy, familial hypertrophic, type 12|CMH12|cardiomyopathy, familial hypertrophic, 12|cardiomyopathy, familial hypertrophic, 12; CMH12|CSRP3 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 12|hypertrophic cardiomyopathy type 12|hypertrophic cardiomyopathy caused by mutation in CSRP3 MONDO:0012801 autism, susceptibility to, 15 biolink:Disease mondo OMIM:612100 http://identifiers.org/omim/612100 http://purl.obolibrary.org/obo/MONDO_0012801 AUTS15|autism, susceptibility to, 15; AUTS15|autism, susceptibility to, type 15|susceptibility to autism 15|autism, susceptibility to, 15 predisposition HGNC:11605 TBX6 biolink:OntologyClass mondo http://identifiers.org/hgnc/11605 MONDO:0012802 oculoauricular syndrome biolink:Disease mondo DOID:0060482|Orphanet:157962|ICD10:Q87.8|OMIM:612109|UMLS:C2677500|MESH:C567416 Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia). DOID:0060482|ORPHA:157962|UMLS:C2677500|http://identifiers.org/omim/612109|MESH:C567416 http://purl.obolibrary.org/obo/MONDO_0012802 OCACS|Schorderet-Munier-Franceschetti syndrome|oculoauricular syndrome|oculoauricular syndrome; OCACS|oculoauricular syndrome, Schorderet type|microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear ordo_malformation_syndrome HGNC:11604 TBX5 biolink:OntologyClass mondo http://identifiers.org/hgnc/11604 MONDO:0012807 epidermolysis bullosa simplex with pyloric atresia biolink:Disease mondo UMLS:C2677349|SCTID:716701004|MESH:C567408|OMIM:612138|Orphanet:158684|ICD10:Q81.0 Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. ORPHA:158684|UMLS:C2677349|http://identifiers.org/omim/612138|MESH:C567408|SNOMEDCT:716701004 http://purl.obolibrary.org/obo/MONDO_0012807 EBS with pyloric atresia|EBS-PA|epidermolysis bullosa simplex with pyloric atresia; EBSPA|epidermolysis bullosa simplex with pyloric atresia|EBSPA ordo_disease NCBITaxon:41665 Neopterygii organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygi MONDO:0012808 dilated cardiomyopathy 1AA biolink:Disease mondo ICD10:I42.0|UMLS:C2677338|OMIM:612158|MESH:C567407|DOID:0110428 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene. DOID:0110428|UMLS:C2677338|http://identifiers.org/omim/612158|MESH:C567407 http://purl.obolibrary.org/obo/MONDO_0012808 dilated cardiomyopathy type 1AA|cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction; CMD1AA|ACTN2 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction|cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction|familial isolated dilated cardiomyopathy caused by mutation in ACTN2|dilated cardiomyopathy 1AA with or without left ventricular noncompaction|CMD1AA MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 biolink:Disease mondo Orphanet:98811|ICD10:G24.8|OMIM:612126|GARD:0010541|UMLS:C1842534|DOID:0090045|MESH:C564288|SCTID:724072002 Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. SNOMEDCT:724072002|http://identifiers.org/omim/612126|ORPHA:98811|DOID:0090045|MESH:C564288|UMLS:C1842534 http://purl.obolibrary.org/obo/MONDO_0012805 paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia|ped|paroxysmal exercise-induced dystonia|GLUT1 deficiency syndrome 2; GLUT1DS2|GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome type 2|dystonia 18|DYT18|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia|childhood onset GLUT1 deficiency syndrome type 2|ped with or without epilepsy and/or hemolytic Anemia|paroxysmal exertion-induced dyskinesia|DYT-SLC2A1|PxMD-SLC2A1|GLUT1DS2 ordo_disease HGNC:11609 TBXAS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11609 MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 biolink:Disease mondo OMIM:612132|UMLS:C2677481|MESH:C567411 UMLS:C2677481|http://identifiers.org/omim/612132|MESH:C567411 http://purl.obolibrary.org/obo/MONDO_0012806 EPAID2|ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant HGNC:11608 TBXA2R biolink:OntologyClass mondo http://identifiers.org/hgnc/11608 HGNC:11610 TCAP biolink:OntologyClass mondo http://identifiers.org/hgnc/11610 HGNC:4341 GLUL biolink:OntologyClass mondo http://identifiers.org/hgnc/4341 MONDO:0012810 ANIB7 biolink:Disease mondo OMIM:612161|MESH:C567406|UMLS:C2677337 UMLS:C2677337|http://identifiers.org/omim/612161|MESH:C567406 http://purl.obolibrary.org/obo/MONDO_0012810 ANIB7|aneurysm, intracranial BERRY, 7; ANIB7|aneurysm, intracranial BERRY, 7 MONDO:0012811 ANIB8 biolink:Disease mondo OMIM:612162|MESH:C567405|UMLS:C2677336 UMLS:C2677336|http://identifiers.org/omim/612162|MESH:C567405 http://purl.obolibrary.org/obo/MONDO_0012811 ANIB8|aneurysm, intracranial BERRY, 8|aneurysm, intracranial BERRY, 8; ANIB8 MONDO:0000836 disease of bone structure biolink:Disease mondo DOID:0080010 DOID:0080010 http://purl.obolibrary.org/obo/MONDO_0000836 bone structure disease MONDO:0000835 obsolete ischemic bone disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000835 MONDO:0000834 bone deterioration disease biolink:Disease mondo DOID:0080007 A bone structure disease that results in change or damage of structure located in bone. DOID:0080007 http://purl.obolibrary.org/obo/MONDO_0000834 MONDO:0000833 bone remodeling disease biolink:Disease mondo DOID:0080005 A bone disease that results in formation or resorption abnormalities located in bone. DOID:0080005 http://purl.obolibrary.org/obo/MONDO_0000833 MONDO:0000839 congenital abnormality biolink:Disease mondo EFO:0003915|UMLS:CN232116|MESH:D000013|ICD9:759.89|DOID:0080015|ICD9:759.9|NCIT:C2849|ICD10:Q00.Q99|SCTID:276654001 Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. SNOMEDCT:276654001|UMLS:CN232116|MESH:D000013|DOID:0080015|NCIT:C2849 http://purl.obolibrary.org/obo/MONDO_0000839 congenital deformity|congenital defect|congenital abnormality|physical disorder|congenital anatomic Abnormality|congenital Abnormality|fetal developmental abnormality|CM - congenital malformation|SCONG|congenital anomaly|congenital defect/deformity|congenital anomaly or birth defect|fetal malformation|congenital malformation|congenital anatomical Abnormality|congenital anomalies of fetus|foetal malformation|defect/deformity, congenital|defect/deformity, Congenital|birth defect|deformity/defect, Congenital MONDO:0000838 obsolete chromosomal disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000838 MONDO:0000837 bone resorption disease biolink:Disease mondo MESH:D001862|DOID:0080011 Bone loss due to osteoclastic activity. DOID:0080011|MESH:D001862 http://purl.obolibrary.org/obo/MONDO_0000837 MONDO:0000810 obsolete DMD-related dilated cardiomyopathy biolink:Disease mondo A dilated cardiomyopathy that has material basis in mutations in the DMD gene. http://purl.obolibrary.org/obo/MONDO_0000810 NCBITaxon:51028 Enterobius vermicularis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_51028 human pinworm NCBITaxon:51027 Enterobius organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_51027 MONDO:0000809 purpura fulminans biolink:Disease mondo SCTID:13507004|EFO:1001913|ICD10:D65|DOID:0060538|MESH:D055665 A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation. MESH:D055665|DOID:0060538|SNOMEDCT:13507004 http://purl.obolibrary.org/obo/MONDO_0000809 purpura gangrenosa|fibrinolytic purpura MONDO:0000808 obsolete hepatoid adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000808 MONDO:0012800 trichoepithelioma, multiple familial, 2 biolink:Disease mondo MESH:C567418|UMLS:C2677505|GARD:0010373|OMIM:612099 http://identifiers.org/omim/612099|UMLS:C2677505|MESH:C567418 http://purl.obolibrary.org/obo/MONDO_0012800 trichoepithelioma, multiple familial, 2|Mft2|multiple familial trichoepithelioma 2|trichoepithelioma multiple familial 2|trichoepithelioma, multiple familial, type 2 gard_rare MONDO:0000803 tiger prawn allergy biolink:Disease mondo DOID:0060528 A allergy involving a Penaeus monodon. DOID:0060528 http://purl.obolibrary.org/obo/MONDO_0000803 allergy of Penaeus monodon|Penaeus monodon allergic disease|Penaeus monodon allergy|Penaeus monodon caused allergic disease MONDO:0000802 Indian prawn allergy biolink:Disease mondo DOID:0060527 A allergic disease involving a Indian prawn. DOID:0060527 http://purl.obolibrary.org/obo/MONDO_0000802 Fenneropenaeus indicus allergy|Indian prawn allergic disease|allergy of Indian prawn MONDO:0000801 green mud crab allergy biolink:Disease mondo DOID:0060526 A allergic disease involving a green mud crab. DOID:0060526 http://purl.obolibrary.org/obo/MONDO_0000801 Scylla paramamosain allergy|allergy of green mud crab|crab allergy|green mud crab allergic disease MONDO:0000800 brown shrimp allergy biolink:Disease mondo DOID:0060525 A allergic disease involving a brown shrimp. DOID:0060525 http://purl.obolibrary.org/obo/MONDO_0000800 allergy of brown shrimp|Farfantepenaeus aztecus allergy|brown shrimp allergic disease MONDO:0000807 latex allergy biolink:Disease mondo DOID:0060532|COHD:4102123|MESH:D020315|ICD9:995.3|SCTID:300916003|ICD9:V15.07|ICD9:989.82 Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein. DOID:0060532|SNOMEDCT:300916003|MESH:D020315 http://purl.obolibrary.org/obo/MONDO_0000807 MONDO:0000806 horned turban snail allergy biolink:Disease mondo DOID:0060531 A allergy involving a Turbo cornutus. DOID:0060531 http://purl.obolibrary.org/obo/MONDO_0000806 allergy of Turbo cornutus|Turbo cornutus caused allergic disease|Turbo cornutus allergic disease|Turbo cornutus allergy NCBITaxon:51026 Oxyuridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_51026 MONDO:0000805 snail allergy biolink:Disease mondo DOID:0060530 A allergic disease involving a snail food product. DOID:0060530 http://purl.obolibrary.org/obo/MONDO_0000805 snail food product allergic disease|allergy of snail food product MONDO:0000804 white shrimp allergy biolink:Disease mondo DOID:0060529 A allergy involving a Litopenaeus schmitti. DOID:0060529 http://purl.obolibrary.org/obo/MONDO_0000804 Litopenaeus schmitti allergic disease|Litopenaeus vannamei allergy|Litopenaeus schmitti caused allergic disease|allergy of Litopenaeus schmitti NCBITaxon:51025 Oxyuroidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_51025 MONDO:0000821 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000821 MONDO:0000820 cerebral cavernous malformation biolink:Disease mondo DOID:0060669|NCIT:C84626 A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur. NCIT:C84626|DOID:0060669 http://purl.obolibrary.org/obo/MONDO_0000820 familial cavernous angioma|cavernous angiomatous malformations|cerebral capillary malformations|CCM MONDO:0000819 anencephaly biolink:Disease mondo ICD10:00.0|NCIT:C84560|DOID:0060668 A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. DOID:0060668|NCIT:C84560 http://purl.obolibrary.org/obo/MONDO_0000819 anencephalus UBERON:0006011 hyaloid vein biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006011 hyaloid veins UBERON:0006010 hyaloid canal biolink:AnatomicalEntity mondo A small transparent canal running through the vitreous body from the optical nerve disc to the lens. It is formed by an invagination of the hyaloid, a membrane which encloses the vitreous body[WP]. http://purl.obolibrary.org/obo/UBERON_0006010 Cloquet's canal|canalis hyaloideus|canal of Cloquet|Stilling's canal MONDO:0000814 B-cell adult acute lymphocytic leukemia biolink:Disease mondo UMLS:C0279593|DOID:0060592|NCIT:C9143|EFO:1001935 An acute B-lymphoblastic leukemia occurring in adults. DOID:0060592|UMLS:C0279593|NCIT:C9143 http://purl.obolibrary.org/obo/MONDO_0000814 adult B cell acute lymphoblastic leukemia|B-cell adult acute lymphoblastic leukemia|B-cell adult ALL|adult B-cell acute lymphocytic leukemia|B-cell childhood acute lymphoblastic leukemia of adults|adult B cell ALL|B cell adult acute lymphoblastic leukemia|adult B-lymphoblastic leukemia|adult B acute lymphoblastic leukemia|adult B-cell ALL|adult B cell acute lymphocytic leukemia|adult B-cell childhood acute lymphoblastic leukemia|B acute lymphoblastic leukemia|B cell adult acute lymphocytic leukemia|adult B-cell acute lymphoblastic leukemia|adult precursor B-lymphoblastic leukemia|B cell adult ALL|adult B-cell lymphocytic leukemia MONDO:0000813 cardiac tuberculosis biolink:Disease mondo MESH:D014381|DOID:0060570|EFO:1001442|UMLS:C0041308 Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium. DOID:0060570|MESH:D014381|UMLS:C0041308 http://purl.obolibrary.org/obo/MONDO_0000813 cardiovascular tuberculosis MONDO:0000812 vertebral column disease biolink:Disease mondo UMLS:C0037933|SCTID:699699005|MESH:D013122|DOID:0060564|ICD9:724.9 A disease involving the vertebral column. DOID:0060564|MESH:D013122|SNOMEDCT:699699005|UMLS:C0037933 http://purl.obolibrary.org/obo/MONDO_0000812 disease or disorder of vertebral column|disease of vertebral column|disorder of vertebral column|vertebral column disease|spinal disease|vertebral column disease or disorder|disease of spine|disorder of vertebral column MONDO:0000811 anomalous left coronary artery from the pulmonary artery biolink:Disease mondo MESH:D063748|UMLS:C1735886|DOID:0060562 A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life. DOID:0060562|MESH:D063748|UMLS:C1735886 http://purl.obolibrary.org/obo/MONDO_0000811 Bland-White-Garland syndrome|ALCAPA|BWGS|ALCAPA disorder|White-Garland syndrome NCBITaxon:77643 Mycobacterium tuberculosis complex organism taxon mondo GC_ID:11|PMID:29205127|PMID:15243089 http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium complex MONDO:0000818 obsolete lethal congenital contracture syndrome 4 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000818 HGNC:4367 GM2A biolink:OntologyClass mondo http://identifiers.org/hgnc/4367 MONDO:0000817 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000817 MONDO:0000816 abdominal obesity-metabolic syndrome biolink:Disease mondo MESH:C535554|OMIMPS:605552|UMLS:C2930930|DOID:0060611 MESH:C535554|DOID:0060611|UMLS:C2930930 http://purl.obolibrary.org/obo/MONDO_0000816 MONDO:0000815 fetal nicotine spectrum disorder biolink:Disease mondo DOID:0060606 A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. DOID:0060606 http://purl.obolibrary.org/obo/MONDO_0000815 MONDO:0000872 B-cell childhood acute lymphoblastic leukemia biolink:Disease mondo NCIT:C9140|EFO:1001946|UMLS:C0279584|DOID:0080146 An acute B-lymphoblastic leukemia occurring in children. UMLS:C0279584|DOID:0080146|NCIT:C9140 http://purl.obolibrary.org/obo/MONDO_0000872 B cell pediatric acute lymphocytic leukemia|B-cell pediatric acute lymphogenous leukemia|B cell childhood ALL|B cell childhood acute lymphoblastic leukemia|childhood B acute lymphoblastic leukemia|B-cell childhood acute lymphoid leukemia|B-cell childhood ALL|B-cell childhood acute lymphocytic leukemia|B-cell childhood acute lymphogenous leukemia|B-cell pediatric acute lymphoblastic leukemia|B acute lymphoblastic leukemia|B cell childhood acute lymphocytic leukemia|B cell pediatric acute lymphoblastic leukemia|B cell pediatric ALL|childhood B-ALL|B-cell pediatric acute lymphocytic leukemia|childhood precursor B-lymphoblastic leukemia|B-cell pediatric acute lymphoid leukemia|B-cell pediatric ALL GO:0051038 negative regulation of transcription involved in meiotic cell cycle biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of transcription involved in the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0051038 down regulation of transcription during meiosis|inhibition of transcription during meiosis|down-regulation of transcription during meiosis|negative regulation of transcription, meiotic|negative regulation of meiotic transcription|downregulation of transcription during meiosis|meiotic repression of transcription MONDO:0000871 T-cell childhood acute lymphocytic leukemia biolink:Disease mondo DOID:0080145|EFO:1001947|NCIT:C7953|UMLS:C0279583 An acute lymphoblastic leukemia of T-cell origin occurring in children. NCIT:C7953|UMLS:C0279583|DOID:0080145 http://purl.obolibrary.org/obo/MONDO_0000871 T-cell childhood acute lymphocytic leukemia|T-cell pediatric acute lymphoblastic leukemia|childhood T acute lymphoblastic leukemia|T-cell childhood ALL|T acute lymphoblastic leukemia|childhood T-ALL|T-cell pediatric acute lymphocytic leukemia|T-cell childhood acute lymphoblastic leukemia|childhood T-cell acute lymphoblastic leukemia|childhood precursor T-lymphoblastic leukemia|T-cell pediatric ALL GO:0051039 positive regulation of transcription involved in meiotic cell cycle biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of transcription as part of a meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0051039 upregulation of transcription during meiosis|positive regulation of meiotic transcription|up regulation of transcription during meiosis|stimulation of transcription during meiosis|positive regulation of transcription, meiotic|up-regulation of transcription during meiosis|activation of transcription during meiosis MONDO:0000870 childhood acute lymphoblastic leukemia biolink:Disease mondo DOID:0080144|NCIT:C3168|GARD:0009240 An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. NCIT:C3168|DOID:0080144 http://purl.obolibrary.org/obo/MONDO_0000870 acute lymphoblastic leukemia (ALL)|childhood precursor lymphoblastic leukemia|pediatric acute lymphoblastic leukemia|pediatric ALL|childhood acute lymphocytic leukemia|pediatric acute lymphoid leukemia|pediatric acute lymphogenous leukemia|pediatric acute lymphocytic leukemia (ALL)|pediatric acute lymphocytic leukemia|childhood ALL|childhood acute lymphoid leukemia|childhood acute lymphoblastic leukemia|childhood acute lymphogenous leukemia gard_rare GO:0051037 regulation of transcription involved in meiotic cell cycle biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of transcription as part of a meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0051037 meiotic regulation of transcription|regulation of transcription, meiotic NCBITaxon:6757 Portunidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6757 swimming crabs MONDO:0000876 obsolete herpes simplex virus keratitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000876 MONDO:0009209 autosomal recessive faciodigitogenital syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:1974|OMIM:227330 Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. http://identifiers.org/omim/227330|ORPHA:1974 http://purl.obolibrary.org/obo/MONDO_0009209 Aarskog-like syndrome|facio-digito-genital syndrome, Kuwait type|Aarskog-like syndrome|Teebi-Naguib-Alawadi syndrome|Kuwait type faciodigitogenital syndrome|faciodigitogenital syndrome, autosomal recessive ordo_malformation_syndrome MONDO:0000875 adult acute monocytic leukemia biolink:Disease mondo UMLS:C0280634|DOID:0080149|NCIT:C8263 A acute monocytic leukemia that occurs in an adult. NCIT:C8263|UMLS:C0280634|DOID:0080149 http://purl.obolibrary.org/obo/MONDO_0000875 adult acute differentiated monocytic leukemia (M5b)|adult acute monocytic leukemia|M5b adult acute leukemia|acute monocytic leukemia|acute monocytic leukemia of adults|M5b adult acute differentiated monocytic leukemia MONDO:0009208 faciothoracogenital syndrome biolink:Disease mondo MESH:C536387|UMLS:C2931184|GARD:0002228|OMIM:227320 UMLS:C2931184|http://identifiers.org/omim/227320|MESH:C536387 http://purl.obolibrary.org/obo/MONDO_0009208 faciothoracogenital syndrome|congenital anomalies, involving mainly the face, thorax, and genitalia|facio thoraco genital syndrome MONDO:0000874 T-cell childhood lymphoblastic lymphoma biolink:Disease mondo EFO:1001948|UMLS:C1332998|NCIT:C7210|DOID:0080148 A T lymphoblastic lymphoma that occurs during childhood. UMLS:C1332998|NCIT:C7210|DOID:0080148 http://purl.obolibrary.org/obo/MONDO_0000874 T lymphoblastic lymphoma|childhood precursor T-lymphoblastic lymphoma|childhood T lymphoblastic lymphoma MONDO:0000873 lymphoblastic lymphoma biolink:Disease mondo UMLS:C0079748|ICD9:202.80|NCIT:C9360|SCTID:109965004|GARD:0003329|DOID:0080147|ICDO:9727/3 A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma. UMLS:C0079748|SNOMEDCT:109965004|DOID:0080147|NCIT:C9360 http://purl.obolibrary.org/obo/MONDO_0000873 lymphoma, lymphoblastic|precursor lymphoblastic lymphoma|precursor cell lymphoblastic lymphoma|lymphoblastic lymphoma|lymphoma, lymphoblastic, malignant gard_rare MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor biolink:Disease mondo UMLS:C1856882|OMIM:227310 http://identifiers.org/omim/227310|UMLS:C1856882 http://purl.obolibrary.org/obo/MONDO_0009207 factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor|factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor MONDO:0012858 primary CD59 deficiency biolink:Disease mondo OMIM:612300|UMLS:C2676767|MESH:C567355|ICD10:D84.1|Orphanet:169464 MESH:C567355|http://identifiers.org/omim/612300|UMLS:C2676767|ORPHA:169464 http://purl.obolibrary.org/obo/MONDO_0012858 HACD59|hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy; HACD59|CD59 deficiency|hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy ordo_disease MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 biolink:Disease mondo SCTID:84048006|OMIM:227300 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene. SNOMEDCT:84048006|http://identifiers.org/omim/227300 http://purl.obolibrary.org/obo/MONDO_0009206 factor V and factor VIII, combined deficiency of, 1|combined deficiency of factor V and factor VIII caused by mutation in LMAN1|factor 5 and Factor VIII, combined deficiency of, 1|F5F8D1|factor V and factor VIII, combined deficiency of, 1; F5F8D1|familial multiple coagulation Factor deficiency 1|multiple coagulation Factor deficiency 1|FMFD 1|LMAN1 combined deficiency of factor V and factor VIII MONDO:0009205 faciocardiorenal syndrome biolink:Disease mondo GARD:0002230|Orphanet:1973|SCTID:723333000|MESH:C536388|UMLS:C0795936|OMIM:227280|ICD10:Q87.8 Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. UMLS:C0795936|http://identifiers.org/omim/227280|MESH:C536388|ORPHA:1973|SNOMEDCT:723333000 http://purl.obolibrary.org/obo/MONDO_0009205 Eastman-Bixler syndrome|faciocardiorenal syndrome|Eastman Bixler syndrome ordo_malformation_syndrome|gard_rare MONDO:0012859 autosomal recessive osteopetrosis 7 biolink:Disease mondo UMLS:C2676766|GARD:0010106|DOID:0110946|ICD10:Q78.2|MESH:C567354|Orphanet:178389|OMIM:612301 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene. MESH:C567354|ORPHA:178389|http://identifiers.org/omim/612301|UMLS:C2676766|DOID:0110946 http://purl.obolibrary.org/obo/MONDO_0012859 osteopetrosis autosomal recessive 7|osteopetrosis, autosomal recessive 7; OPTB7|osteopetrosis-hypogammaglobulinemia syndrome|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|osteoclast-poor osteopetrosis with hypogammaglobulinemia|OPTB7|osteopetrosis (disease) caused by mutation in TNFRSF11A|osteopetrosis, autosomal recessive type 7|osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7|osteopetrosis, autosomal recessive 7|osteopetrosis osteoclast-poor with hypogammaglobulinemia|TNFRSF11A osteopetrosis (disease) ordo_disease|gard_rare UBERON:0006082 fundus of urinary bladder biolink:AnatomicalEntity mondo The base or posterior surface of the urinary bladder contains the trigone of the bladder and the outlet where urine empties through the internal urethral orifice. http://purl.obolibrary.org/obo/UBERON_0006082 base of urinary bladder|fundus of bladder|urinary bladder fundus region|bladder dome|urinary bladder fundus|urinary bladder base|fundus vesicae MONDO:0012856 Birk-Barel syndrome biolink:Disease mondo GARD:0010358|DOID:0050675|MESH:C567357|UMLS:C2676770|OMIM:612292|Orphanet:166108|SCTID:764861005|ICD10:Q87.8 Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing). http://identifiers.org/omim/612292|MESH:C567357|UMLS:C2676770|DOID:0050675|SNOMEDCT:764861005|ORPHA:166108 http://purl.obolibrary.org/obo/MONDO_0012856 BIRK-Barel intellectual disability dysmorphism syndrome|intellectual disability-hypotonia-facial dysmorphism syndrome|intellectual disability, Birk-Barel type|mental retardation with hypotonia and Facial Dysmorphism|BIRK-Barel mental retardation dysmorphism syndrome|intellectual disability with hypotonia and Facial Dysmorphism|Birk-Barel syndrome|Birk Barel mental retardation dysmorphism syndrome|Birk Barel intellectual disability dysmorphism syndrome ordo_disease|gard_rare MONDO:0009204 lethal faciocardiomelic dysplasia biolink:Disease mondo Orphanet:1972|GARD:0002229|MESH:C565578|UMLS:C1856891|OMIM:227270|ICD10:Q87.8|SCTID:719400000 Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. http://identifiers.org/omim/227270|ORPHA:1972|MESH:C565578|UMLS:C1856891|SNOMEDCT:719400000 http://purl.obolibrary.org/obo/MONDO_0009204 faciocardiomelic dysplasia lethal|faciocardiomelic dysplasia, lethal ordo_malformation_syndrome|gard_rare MONDO:0012857 POROK5 biolink:Disease mondo MESH:C567356|UMLS:C2676769|OMIM:612293 http://identifiers.org/omim/612293|MESH:C567356|UMLS:C2676769 http://purl.obolibrary.org/obo/MONDO_0012857 porokeratosis 5, disseminated superficial actinic type|porokeratosis 5, disseminated superficial actinic type; POROK5|POROK5|porokeratosis, disseminated superficial actinic, 3 MONDO:0009203 focal facial dermal dysplasia type III biolink:Disease mondo Orphanet:1807|SCTID:403771007|GARD:0000121|ICD10:Q82.8|OMIM:227260 Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis. UMLS:C1744559|SNOMEDCT:403771007|http://identifiers.org/omim/227260|ORPHA:1807|MESH:C536385 http://purl.obolibrary.org/obo/MONDO_0009203 facial ectodermal dysplasia|FFDD type 2|bitemporal forceps Marks syndrome|FFDD type III|focal facial dermal dysplasia 3, Setleis type|focal facial dermal dysplasia type 2|FFDD3|focal Facial dermal dysplasia, type II, formerly|Setleis syndrome|bitemporal forceps marks syndrome|FFDD3|focal facial dermal dysplasia 3, Setleis type; FFDD3|focal Facial dermal dysplasia, type II gard_rare|ordo_clinical_subtype MONDO:0009202 Thakker-Donnai syndrome biolink:Disease mondo Orphanet:1780|UMLS:C2931219|OMIM:227255|ICD10:Q87.8|GARD:0005158 http://identifiers.org/omim/227255|ORPHA:1780|UMLS:C2931219 http://purl.obolibrary.org/obo/MONDO_0009202 Dysmorphism-multiple structural anomalies syndrome|Dysmorphism multiple structural anomalies|facial dysmorphism with multiple malformations|dysmorphic facial features and multiple structural abnormalities gard_rare|ordo_malformation_syndrome MONDO:0009201 facial abnormalities, kyphoscoliosis, and mental retardation biolink:Disease mondo OMIM:227250|MESH:C565580|UMLS:C1856893 http://identifiers.org/omim/227250|MESH:C565580|UMLS:C1856893 http://purl.obolibrary.org/obo/MONDO_0009201 facial abnormalities, kyphoscoliosis, and intellectual disability|facial abnormalities, kyphoscoliosis, and mental retardation MONDO:0009200 eyebrow duplication-syndactyly syndrome biolink:Disease mondo MESH:C536383|UMLS:C1856896|Orphanet:3172|OMIM:227210|GARD:0002216 Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. ORPHA:3172|http://identifiers.org/omim/227210|MESH:C536383|UMLS:C1856896 http://purl.obolibrary.org/obo/MONDO_0009200 eyebrows, DUPLICATION of, with stretchable skin and syndactyly|eyebrows duplication of, with stretchable skin and syndactyly ordo_malformation_syndrome MONDO:0012861 premature ovarian failure 6 biolink:Disease mondo OMIM:612310|UMLS:C2676742|MESH:C567351 Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene. MESH:C567351|http://identifiers.org/omim/612310|UMLS:C2676742 http://purl.obolibrary.org/obo/MONDO_0012861 premature ovarian failure type 6|FIGLA primary ovarian failure|primary ovarian failure caused by mutation in FIGLA|premature ovarian failure 6; Pof6|Pof6|premature ovarian failure 6 MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 biolink:Disease mondo OMIM:612311 http://identifiers.org/omim/612311 http://purl.obolibrary.org/obo/MONDO_0012862 Adhd5|attention deficit-hyperactivity disorder, susceptibility to, 5|motor timing quantitative trait locus|attention Deficit-hyperactivity disorder, susceptibility to, type 5 predisposition MONDO:0010200 Wilson disease biolink:Disease mondo UMLS:C0019202|SCTID:88518009|NCIT:C84756|MedDRA:10019819|DOID:893|OMIM:277900|GARD:0007893|Orphanet:905|ICD10:E83.0|MESH:D006527|ICD10:E83.01 Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. MEDDRA:10019819|DOID:893|SNOMEDCT:88518009|ORPHA:905|UMLS:C0019202|MESH:D006527|NCIT:C84756|http://identifiers.org/omim/277900 http://purl.obolibrary.org/obo/MONDO_0010200 WD|hepatolenticular degeneration|hepatolenticular Degeneration|cerebral pseudosclerosis|Wnd|Wilson disease|Westphal pseudosclerosis|Wilson's disease|Westphal-Strumpell syndrome ordo_disease|gard_rare|clingen MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive biolink:Disease mondo OMIM:612304|UMLS:C2676759|MESH:C567353|GARD:0013041 MESH:C567353|http://identifiers.org/omim/612304|UMLS:C2676759 http://purl.obolibrary.org/obo/MONDO_0012860 Proc deficiency, autosomal recessive|Protein C deficiency, autosomal recessive|thrombophilia due to protein C deficiency, autosomal recessive|hereditary thrombophilia due to PC deficiency|thrombophilia due to PROTEIN C deficiency, autosomal recessive; THPH4|autosomal recessive protein C deficiency|THPH4|hereditary thrombophilia due to congenital protein C deficiency|autosomal recessive hereditary thrombophilia due to protein C deficiency gard_rare MONDO:0012865 Pseudofolliculitis barbae biolink:Disease mondo OMIM:612318|UMLS:C0549150|ICD10:L73.1|COHD:4160464|MESH:C563016 UMLS:C0549150|MESH:C563016|http://identifiers.org/omim/612318 http://purl.obolibrary.org/obo/MONDO_0012865 pili Incarnati|Pseudofolliculitis barbae|PFB|ingrown hairs MONDO:0010202 obsolete Wiskott-Aldrich syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010202 MONDO:0010201 Winchester syndrome biolink:Disease mondo UMLS:CN204453|SCTID:254151006|GARD:0007894|OMIM:277950|ICD9:733.29 SNOMEDCT:254151006|UMLS:CN204453|http://identifiers.org/omim/277950 http://purl.obolibrary.org/obo/MONDO_0010201 multicentric osteolysis, nodulosis and arthropathy|Winchester syndrome|noa syndrome|Winchester-Grossman syndrome|Al-Qeel Sewairi syndrome|Torg Winchester syndrome|WNCHRS|nodulosis arthropathy osteolysis syndrome|Winchester syndrome; WNCHRS MONDO:0012866 hereditary spastic paraplegia 35 biolink:Disease mondo SCTID:764688002|MESH:C567311|UMLS:C3496228|DOID:0110786|OMIM:612319|Orphanet:171629|ICD10:G11.4 Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. DOID:0110786|SNOMEDCT:764688002|ORPHA:171629|UMLS:C3496228|MESH:C567311|http://identifiers.org/omim/612319 http://purl.obolibrary.org/obo/MONDO_0012866 FAHN|SPG35|autosomal recessive spastic paraplegia type 35|fatty acid hydroxylase-associated neurodegeneration|leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia|spastic paraplegia 35, autosomal recessive|autosomal recessive spastic paraplegia 35|FA2H hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in FA2H|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|spastic paraplegia 35, autosomal recessive; SPG35|hereditary spastic paraplegia type 35 ordo_disease GO:1905207 regulation of cardiocyte differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cardiocyte differentiation. http://purl.obolibrary.org/obo/GO_1905207 regulation of cardiac cell differentiation|regulation of heart cell differentiation MONDO:0010204 lysosomal acid lipase deficiency biolink:Disease mondo GARD:0012097|OMIM:278000|ICD10:E75.5|Orphanet:275761|DOID:0080217|MESH:C531854|SCTID:715923003 Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. DOID:0080217|SNOMEDCT:715923003|http://identifiers.org/omim/278000|ORPHA:275761|MESH:C531854 http://purl.obolibrary.org/obo/MONDO_0010204 lysosomal acid lipase deficiency|LAL deficiency|Wolman disease|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lysosomal and lipase deficiency|lipa deficiency ordo_disease MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 biolink:Disease mondo OMIM:612312 http://identifiers.org/omim/612312 http://purl.obolibrary.org/obo/MONDO_0012863 Adhd6|digit span quantitative trait locus|attention deficit-hyperactivity disorder, susceptibility to, 6|attention Deficit-hyperactivity disorder, susceptibility to, type 6 predisposition GO:1905208 negative regulation of cardiocyte differentiation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cardiocyte differentiation. http://purl.obolibrary.org/obo/GO_1905208 down regulation of cardiocyte differentiation|down regulation of heart cell differentiation|inhibition of cardiocyte differentiation|inhibition of heart cell differentiation|downregulation of cardiac cell differentiation|down-regulation of cardiocyte differentiation|down-regulation of heart cell differentiation|negative regulation of heart cell differentiation|down regulation of cardiac cell differentiation|inhibition of cardiac cell differentiation|negative regulation of cardiac cell differentiation|down-regulation of cardiac cell differentiation|downregulation of cardiocyte differentiation|downregulation of heart cell differentiation MONDO:0012864 chromosome 2q32-q33 deletion syndrome biolink:Disease mondo OMIM:612313|Orphanet:251019|MESH:C567350|SCTID:719659003|DOID:0060428|ICD10:Q93.5|UMLS:C2676739|GARD:0013206|UMLS:C4304531 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. UMLS:C2676739|UMLS:C4304531|ORPHA:251019|DOID:0060428|SNOMEDCT:719659003|MESH:C567350|http://identifiers.org/omim/612313 http://purl.obolibrary.org/obo/MONDO_0012864 SATB2 syndrome|monosomy 2q32-q33|glass|monosomy 2q32|glass syndrome|2q32q33 microdeletion syndromes|glass syndrome; glass|SATB2-associated syndrome|monosomy 2q32q33|Del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|2q32-q33 microdeletion syndrome|SAS|Del(2)(q32)|2q32q33 microdeletion syndrome gard_rare|ordo_malformation_syndrome GO:1905209 positive regulation of cardiocyte differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cardiocyte differentiation. http://purl.obolibrary.org/obo/GO_1905209 up regulation of cardiac cell differentiation|up-regulation of cardiac cell differentiation|upregulation of cardiocyte differentiation|activation of cardiac cell differentiation|upregulation of heart cell differentiation|positive regulation of heart cell differentiation|up regulation of cardiocyte differentiation|upregulation of cardiac cell differentiation|up regulation of heart cell differentiation|up-regulation of cardiocyte differentiation|up-regulation of heart cell differentiation|positive regulation of cardiac cell differentiation|activation of cardiocyte differentiation|activation of heart cell differentiation MONDO:0010203 intellectual disability, Wolff type biolink:Disease mondo ICD10:Q87.0|MESH:C537448|Orphanet:3080|UMLS:C1848439|OMIM:277990 Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias. MESH:C537448|UMLS:C1848439|ORPHA:3080|http://identifiers.org/omim/277990 http://purl.obolibrary.org/obo/MONDO_0010203 Wolff-Zimmermann syndrome|WOLFF intellectual disability syndrome|WOLFF mental retardation syndrome ordo_malformation_syndrome MONDO:0000869 obsolete congenital fibrosis of the extraocular muscles biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000869 MONDO:0000868 obsolete mitochondrial DNA depletion syndrome 6 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000868 MTDPS6|mitochondrial DNA depletion syndrome type 6 MONDO:0000867 obsolete multiple pterygium syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000867 MONDO:0000866 myoglobinuria biolink:Disease mondo HP:0002913|MESH:D009212|ICD10:R82.1|DOID:0080108 DOID:0080108|MESH:D009212 http://purl.obolibrary.org/obo/MONDO_0000866 myoglobinurias NCBITaxon:6760 Scylla organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6760 mud crabs|mangrove crabs MONDO:0000883 myeloid neoplasms associated with PDGFRB rearrangement biolink:Disease mondo ICDO:9966/3|DOID:0080166|NCIT:C84276|ONCOTREE:MLNPDGFRB|UMLS:C2827361 Myeloid and rarely lymphoid neoplasms characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. Patients usually present with chronic myelomonocytic leukemia and less often with atypical chronic myeloid leukemia, or chronic eosinophilic leukemia. NCIT:C84276|DOID:0080166|UMLS:C2827361 http://purl.obolibrary.org/obo/MONDO_0000883 myeloid neoplasms with PDGFRB rearrangement|myeloid/lymphoid neoplasms with PDGFRB rearrangement|myeloid and lymphoid neoplasms with PDGFRB rearrangement|myeloid/lymphoid neoplasms with PDGFRB rearrangement GO:0051049 regulation of transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051049 MONDO:0000882 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement biolink:Disease mondo DOID:0080165|ONCOTREE:MLNPDGFRA|UMLS:C2827360|NCIT:C84275|ICDO:9965/3 Hematologic neoplasms characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. Patients usually present with chronic eosinophilic leukemia, and less often with acute myeloid leukemia or T-lymphoblastic leukemia. NCIT:C84275|DOID:0080165|UMLS:C2827360 http://purl.obolibrary.org/obo/MONDO_0000882 myeloid/lymphoid neoplasms with PDGFRA rearrangement|myeloid and lymphoid neoplasms with PDGFRA rearrangement|myeloid/lymphoid neoplasms with PDGFRA rearrangement MONDO:0000881 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 biolink:Disease mondo DOID:0080164|UMLS:C2827356|NCIT:C84270 A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, or FGFR1 genes, resulting in the formation of fusion transcripts and aberrant tyrosine kinase activity. Eosinophilia is a characteristic finding but it is not always present. This group includes the myeloid and lymphoid neoplasms with t(8;9)(p22;p24.1);PCM1-JAK2 as a provisional entity. NCIT:C84270|DOID:0080164|UMLS:C2827356 http://purl.obolibrary.org/obo/MONDO_0000881 myeloid/lymphoid neoplasms with eosinophilia and Gene rearrangement|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1|myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with Pcm1-JAK2|myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with Pcm1-JAK2 GO:0051047 positive regulation of secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. http://purl.obolibrary.org/obo/GO_0051047 stimulation of secretion|upregulation of secretion|up-regulation of secretion|up regulation of secretion|activation of secretion GO:0051048 negative regulation of secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. http://purl.obolibrary.org/obo/GO_0051048 down-regulation of secretion|down regulation of secretion|inhibition of secretion|downregulation of secretion NCBITaxon:4107 Solanum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4107 MONDO:0000880 obsolete lupus nephritis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000880 MONDO:0000887 obsolete hepatic veno-occlusive disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000887 MONDO:0000886 obsolete meningococcal meningitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000886 MONDO:0009219 fascial dystrophy, congenital biolink:Disease mondo ICD9:709.8|OMIM:228020|MESH:C563219|SCTID:399948007 http://identifiers.org/omim/228020|SNOMEDCT:399948007|MESH:C563219 http://purl.obolibrary.org/obo/MONDO_0009219 fascial dystrophy, congenital MONDO:0000885 obsolete cloacal exstrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000885 MONDO:0009218 Farber lipogranulomatosis biolink:Disease mondo GARD:0006426|MESH:D055577|ICD9:272.8|UMLS:C0268255|SCTID:79935000|UMLS:CN204335|NCIT:C84710|OMIM:228000|DOID:0050464|ICD10:E75.2|Orphanet:333 Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. UMLS:CN204335|UMLS:C0268255|NCIT:C84710|http://identifiers.org/omim/228000|MESH:C537075|UMLS:C2936785|MESH:D055577|DOID:0050464|ORPHA:333|SNOMEDCT:79935000 http://purl.obolibrary.org/obo/MONDO_0009218 Farber's disease|N-Laurylsphingosine deacylase deficiency|Farber lipogranulomatosis; FRBRL|AC deficiency|Farber disease|FRBRL|acid ceramidase deficiency|N-LAURYLSPHINGOSINE deacylase deficiency|Farber lipogranulomatosis|ceramidase deficiency ordo_disease MONDO:0000884 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities biolink:Disease mondo DOID:0080167 DOID:0080167 http://purl.obolibrary.org/obo/MONDO_0000884 MONDO:0012847 autosomal recessive congenital ichthyosis 6 biolink:Disease mondo OMIM:612281|ICD10:Q80.2|UMLS:C2677065|DOID:0060715 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene. UMLS:C2677065|http://identifiers.org/omim/612281|DOID:0060715 http://purl.obolibrary.org/obo/MONDO_0012847 ichthyosis, congenital, autosomal recessive 6; ARCI6|ichthyosis, congenital, autosomal recessive, Nipal4-related|ARCI6|ichthyosis, congenital, autosomal recessive 6|autosomal recessive congenital ichthyosis type 6|ichthyosis, congenital, autosomal recessive type 6 UBERON:0006072 cervical region of vertebral column biolink:AnatomicalEntity mondo That portion of the spine comprising the cervical vertebrae. The neck area of the spine. http://purl.obolibrary.org/obo/UBERON_0006072 cervical spinal column|cervical vertebrae series|cervical skeleton|cervical spine|cervical vertebral column|axial skeleton cervical region|skeletal system of neck MONDO:0009217 Fanconi-like syndrome biolink:Disease mondo UMLS:C0151638|OMIM:227850|MESH:C536855|SCTID:236469003|DOID:0090066 A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. UMLS:C0151638|http://identifiers.org/omim/227850|DOID:0090066|MESH:C536855|SNOMEDCT:236469003 http://purl.obolibrary.org/obo/MONDO_0009217 Fanconi-like syndrome MONDO:0009216 glycogen storage disease due to GLUT2 deficiency biolink:Disease mondo OMIM:227810|Orphanet:2088|SCTID:61598006|GARD:0002268|ICD10:E74.0 Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. ORPHA:2088|http://identifiers.org/omim/227810|SNOMEDCT:61598006 http://purl.obolibrary.org/obo/MONDO_0009216 glycogenosis, Fanconi type|pseudo-phlorizin diabetes|Fanconi-Bickel disease|Fanconi syndrome with intestinal malabsorption and galactose intolerance|hepatorenal glycogenosis with renal fanconi syndrome|FBS|GLUT2 deficiency|Fanconi-Bickel syndrome; FBS|glycogen storage disease XI|Fanconi Bickel syndrome|glycogenosis due to GLUT2 deficiency|glycogenosis Fanconi EXACT|glycogen storage disease 11|hepatic glycogenosis with Fanconi nephropathy|hepatorenal glycogenosis with renal Fanconi syndrome|GSD type XI|GSD due to GLUT2 deficiency|glycogen storage disease type XI|GSD type 11|Fanconi-Bickel syndrome|Bickel-Fanconi glycogenosis|glycogen storage disease type 11|hepatic glycogenosis with amino aciduria and glucosuria|glycogen storage disease due to GLUT2 deficiency ordo_disease|gard_rare MONDO:0012848 Meckel syndrome, type 6 biolink:Disease mondo ICD10:Q61.9|DOID:0070120|MESH:C567365|OMIM:612284|UMLS:C2676790 Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. MESH:C567365|http://identifiers.org/omim/612284|UMLS:C2676790|DOID:0070120 http://purl.obolibrary.org/obo/MONDO_0012848 Meckel syndrome, type 6; MKS6|Meckel syndrome caused by mutation in CC2D2A|MKS6|Meckel syndrome, type 6|Meckel syndrome 6|Meckel-Gruber syndrome, type 6|CC2D2A Meckel syndrome UBERON:0006071 caudal region biolink:AnatomicalEntity mondo Subdivision of an organism along anterior-posterior axis that is the posteriormost region, extending past the anus (or cloaca, if present), consisting of a tail in some fully formed chordates (or a tail bud in embryos). In animals that have a sacral region, this is the region immediately posterior to this. http://purl.obolibrary.org/obo/UBERON_0006071 post-anal tail region|tail region|post-anal caudal region|postsacral region MONDO:0012845 inflammatory bowel disease 19 biolink:Disease mondo DOID:0110890|OMIM:612278|MESH:C567372|UMLS:C2677079 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene. http://identifiers.org/omim/612278|MESH:C567372|DOID:0110890|UMLS:C2677079 http://purl.obolibrary.org/obo/MONDO_0012845 IBD19|inflammatory bowel disease type 19|inflammatory bowel disease caused by mutation in IRGM|inflammatory bowel disease 19; IBD19|inflammatory bowel disease (Crohn disease) 19; IBD19|IRGM inflammatory bowel disease|inflammatory bowel disease (Crohn disease) 19|inflammatory bowel disease 19 MONDO:0009215 Fanconi anemia complementation group A biolink:Disease mondo NCIT:C125702|EFO:0009044|OMIM:227650|DOID:0111095|UMLS:CN653908|GTR:AN1051558 Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. UMLS:CN653908|DOID:0111095|http://identifiers.org/omim/227650|NCIT:C125702 http://purl.obolibrary.org/obo/MONDO_0009215 Fanconi Anemia, complementation group type a|FANCA|Estren-Dameshek variant of Fanconi Anemia|Fanconi anemia complementation group type A|Fanconi Anemia, Estren-Dameshek variant|Fanconi anemia, complementation group A; FANCA|FANCA Fanconi anemia|Fanconi Anemia|Fanconi anemia, complementation group A|Fanconi anemia caused by mutation in FANCA|Estren-Dameshek variant of Fanconi pancytopenia MONDO:0012846 GEFSP6 biolink:Disease mondo UMLS:C2677078|OMIM:612279|MESH:C567371 http://identifiers.org/omim/612279|MESH:C567371|UMLS:C2677078 http://purl.obolibrary.org/obo/MONDO_0012846 generalized epilepsy with febrile seizures plus, type 6|generalized epilepsy with febrile seizures plus, type 6; GEFSP6|GEFSP6|Gefs+, type 6 MONDO:0009214 Fanconi anemia complementation group D2 biolink:Disease mondo DOID:0111083|UMLS:C3160738|NCIT:C125706|OMIM:227646 Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. DOID:0111083|http://identifiers.org/omim/227646|UMLS:C3160738|NCIT:C125706 http://purl.obolibrary.org/obo/MONDO_0009214 Fanconi anemia, complementation group D2|Fanconi pancytopenia type 4|Fanconi pancytopenia, type 4|Fanconi Anemia, complementation group D|Fanconi anemia, complementation group D2; FANCD2|Fad2|FANCD2|FA4|FAD2 MONDO:0009213 Fanconi anemia complementation group C biolink:Disease mondo DOID:0111087|UMLS:C3468041|OMIM:227645|NCIT:C125704 Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. DOID:0111087|http://identifiers.org/omim/227645|NCIT:C125704|UMLS:C3468041 http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group type C|Fanconi Anemia, complementation group type C|FANCC|facc|FACC|Fanconi pancytopenia, type 3|FA3|Fanconi pancytopenia type 3|Fanconi anemia, complementation group C|Fanconi anemia, complementation group C; FANCC MONDO:0009212 congenital factor X deficiency biolink:Disease mondo SCTID:76642003|ICD9:286.3|OMIM:227600|DOID:2222|ICD10:D68.2|GARD:0006404|Orphanet:328|NCIT:C98940 Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms. SNOMEDCT:76642003|ORPHA:328|http://identifiers.org/omim/227600|DOID:2222|NCIT:C98940 http://purl.obolibrary.org/obo/MONDO_0009212 disease, Stuart-Prower|Stuart-Prower Factor deficiency|factor X deficiency, congenital|congenital Stuart factor deficiency|hereditary Factor X deficiency|factor 10 deficiency|Stuart factor deficiency, congenital|Stuart-Prower factor deficiency|F10 deficiency|factor X deficiency ordo_disease MONDO:0009211 congenital factor VII deficiency biolink:Disease mondo UMLS:C1394919|OMIM:227500|DOID:2215|ICD10:D68.2|MedDRA:10016079|GARD:0002238|Orphanet:327|NCIT:C131631 Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor. UMLS:C1394919|ORPHA:327|http://identifiers.org/omim/227500|MEDDRA:10016079|DOID:2215|NCIT:C131631 http://purl.obolibrary.org/obo/MONDO_0009211 deficiency, stable|congenital proconvertin deficiency|F7 deficiency|factor VII deficiency|factor 7 deficiency|hypoproconvertinemia ordo_disease MONDO:0012849 Joubert syndrome 9 biolink:Disease mondo UMLS:C2676788|MESH:C567364|OMIM:612285|DOID:0111004 Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene. MESH:C567364|http://identifiers.org/omim/612285|UMLS:C2676788|DOID:0111004 http://purl.obolibrary.org/obo/MONDO_0012849 Joubert syndrome 9; JBTS9|Joubert syndrome 9|Joubert syndrome 9/15, digenic|JBTS9|Joubert syndrome caused by mutation in CC2D2A|Joubert syndrome type 9|CC2D2A Joubert syndrome MONDO:0009210 congenital factor V deficiency biolink:Disease mondo UMLS:C0015499|MESH:D005166|ICD10:D68.2|MedDRA:10048930|DOID:2216|GARD:0002237|SCTID:88776002|NCIT:C98938|OMIM:227400|Orphanet:326 Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms. UMLS:C0015499|SNOMEDCT:88776002|ORPHA:326|MEDDRA:10048930|http://identifiers.org/omim/227400|DOID:2216|MESH:D005166|NCIT:C98938 http://purl.obolibrary.org/obo/MONDO_0009210 hereditary hypoproaccelerinaemia|Parahemophilia|factor 5 deficiency|Proaccelerin deficiency|hereditary factor V deficiency|factor V deficiency|Owren disease|hereditary Factor V deficiency|deficiency, labile|labile factor deficiency|labile Factor deficiency|Owren Parahemophilia ordo_disease|gard_rare MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 biolink:Disease mondo UMLS:C2676786|OMIM:612286|DOID:0080077|MESH:C567363 UMLS:C2676786|MESH:C567363|http://identifiers.org/omim/612286|DOID:0080077 http://purl.obolibrary.org/obo/MONDO_0012850 nephrolithiasis/osteoporosis, hypophosphatemic, 1; NPHLOP1|nephrolithiasis/osteoporosis, hypophosphatemic, type 1|NPHLOP1|hypophosphatemic nephrolithiasis/osteoporosis type 1|nephrolithiasis/osteoporosis, hypophosphatemic, 1 GO:1905213 negative regulation of mitotic chromosome condensation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation. http://purl.obolibrary.org/obo/GO_1905213 MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 biolink:Disease mondo OMIM:612287|DOID:0080078|MESH:C567362|UMLS:C2676782 UMLS:C2676782|DOID:0080078|MESH:C567362|http://identifiers.org/omim/612287 http://purl.obolibrary.org/obo/MONDO_0012851 NPHLOP2|nephrolithiasis/osteoporosis, hypophosphatemic, 2; NPHLOP2|nephrolithiasis/osteoporosis, hypophosphatemic, type 2|hypophosphatemic nephrolithiasis/osteoporosis type 2|nephrolithiasis/osteoporosis, hypophosphatemic, 2 GO:1905214 regulation of RNA binding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of RNA binding. http://purl.obolibrary.org/obo/GO_1905214 HGNC:4385 GNAI2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4385 GO:1905215 negative regulation of RNA binding biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of RNA binding. http://purl.obolibrary.org/obo/GO_1905215 down-regulation of RNA binding|down regulation of RNA binding|inhibition of RNA binding|downregulation of RNA binding UBERON:0006077 subdivision of vertebral column biolink:AnatomicalEntity mondo A collection of all skeletal elements in some subdivision of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0006077 vertebral subdivision|vertebral series|subdivision of vertebral skeleton|vertebral column subdivision|vertebral region|vertebrae series GO:1905216 positive regulation of RNA binding biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of RNA binding. http://purl.obolibrary.org/obo/GO_1905216 activation of RNA binding|upregulation of RNA binding|up-regulation of RNA binding|up regulation of RNA binding UBERON:0006076 caudal region of vertebral column biolink:AnatomicalEntity mondo Subdivision of vertebral column that corresponds to the caudal subdivision of the body, containing the caudal vertebrae. http://purl.obolibrary.org/obo/UBERON_0006076 postsacral region|caudal vertebrae series|caudal region|caudal skeleton|axial skeleton tail region|tail region MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome biolink:Disease mondo MESH:C567359|ICD10:Q87.0|UMLS:C2676772|Orphanet:140963|OMIM:612290 This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. UMLS:C2676772|ORPHA:140963|http://identifiers.org/omim/612290|MESH:C567359 http://purl.obolibrary.org/obo/MONDO_0012854 microtia, hearing impairment, and cleft palate|microtia with or without hearing impairment ordo_malformation_syndrome MONDO:0012855 Joubert syndrome 8 biolink:Disease mondo OMIM:612291|UMLS:C2676771|MESH:C567358|DOID:0111003 Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene. http://identifiers.org/omim/612291|MESH:C567358|DOID:0111003|UMLS:C2676771 http://purl.obolibrary.org/obo/MONDO_0012855 ARL13B Joubert syndrome|Joubert syndrome caused by mutation in ARL13B|Joubert syndrome type 8|Joubert syndrome 8; JBTS8|JBTS8|Joubert syndrome 8 UBERON:0006075 sacral region of vertebral column biolink:AnatomicalEntity mondo Subdivision of vertebral column that corresponds to the sacral subdivision of the body, containing the sacral vertebrae or sacrum. http://purl.obolibrary.org/obo/UBERON_0006075 sacral vertebrae series|sacral skeleton|axial skeleton sacral region|sacrum MONDO:0012852 inflammatory bowel disease 20 biolink:Disease mondo OMIM:612288|DOID:0110898|MESH:C567361|UMLS:C2676781 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24. UMLS:C2676781|DOID:0110898|MESH:C567361|http://identifiers.org/omim/612288 http://purl.obolibrary.org/obo/MONDO_0012852 inflammatory bowel disease type 20|inflammatory bowel disease 20|IBD20|inflammatory bowel disease 20; IBD20 UBERON:0006074 lumbar region of vertebral column biolink:AnatomicalEntity mondo Subdivision of vertebral column that corresponds to the lumbar subdivision of the body, containing the lumbar vertebrae. http://purl.obolibrary.org/obo/UBERON_0006074 axial skeleton lumbar region|lumbar spine|lumbar vertebrae series|lumbar skeleton|lumbar vertebral column MONDO:0012853 progeroid syndrome, Petty type biolink:Disease mondo SCTID:205800003|ICD10:E34.8|OMIM:233500|GARD:0004497|GARD:0000066|Orphanet:2095|ICD9:759.89|UMLS:C2931653|MESH:C537290|ICD10:Q87.0|OMIM:612289 Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. MESH:C537290|SNOMEDCT:205800003|UMLS:C2931653|ORPHA:2095|UMLS:C0345382|http://identifiers.org/omim/612289|http://identifiers.org/omim/233500 http://purl.obolibrary.org/obo/MONDO_0012853 Fontaine progeroid syndrome; FPS|Petty-Laxova-Wiedemann syndrome|dental and eye anomalies, patent ductus arteriosus, and normal intelligence|Gorlin-Chaudhry-Moss syndrome|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome|craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies|Fontaine progeroid syndrome|progeroid syndrome congenital Petty type|Gorlin Chaudhry Moss syndrome|progeroid syndrome, congenital, Petty type|Petty syndrome|FPS|dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome|craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|progeroid syndrome Petty type|cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora|GCM syndrome|Petty Laxova Wiedemann syndrome|GCMS ordo_malformation_syndrome|gard_rare UBERON:0006073 thoracic region of vertebral column biolink:AnatomicalEntity mondo That part of the spine comprising the thoracic vertebrae. http://purl.obolibrary.org/obo/UBERON_0006073 thoracic spine|thoracic vertebral column|axial skeleton thoracic region|columna vertebralis thoracicus|thoracic vertebrae series NCBITaxon:6774 Portunoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6774 MONDO:0000879 cutaneous candidiasis biolink:Disease mondo MESH:D002179|DOID:0080161|UMLS:C0006846 Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed) DOID:0080161|UMLS:C0006846|MESH:D002179 http://purl.obolibrary.org/obo/MONDO_0000879 zone of skin candidiasis MONDO:0000878 cytomegalovirus retinitis biolink:Disease mondo EFO:1001302|NCIT:C50521|DOID:0080160|UMLS:C0206178|GARD:0009531|SCTID:22455005|MESH:D017726 Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness. DOID:0080160|UMLS:C0206178|NCIT:C50521|SNOMEDCT:22455005|MESH:D017726 http://purl.obolibrary.org/obo/MONDO_0000878 Cytomegalovirus retinitis|cytomegalovirus retinitis|Cytomegaloviral Retinitis|Cytomegalovirus caused retinitis|CMV retinitis|Retinitis, Cytomegaloviral gard_rare MONDO:0000877 obsolete Cryptococcal meningitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000877 HGNC:4389 GNAO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4389 GO:0051046 regulation of secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. http://purl.obolibrary.org/obo/GO_0051046 HGNC:4388 GNAL biolink:OntologyClass mondo http://identifiers.org/hgnc/4388 HGNC:4387 GNAI3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4387 MONDO:0000850 obsolete hypochondroplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000850 GO:0051058 negative regulation of small GTPase mediated signal transduction biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction. http://purl.obolibrary.org/obo/GO_0051058 negative regulation of small GTPase-mediated signal transduction|down regulation of small GTPase mediated signal transduction|downregulation of small GTPase mediated signal transduction|inhibition of small GTPase mediated signal transduction|down-regulation of small GTPase mediated signal transduction MONDO:0000854 obsolete Stickler syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000854 MONDO:0000853 obsolete Kniest dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000853 MONDO:0000852 obsolete hypochondrogenesis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000852 MONDO:0000851 obsolete achondrogenesis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000851 MONDO:0012836 systemic lupus erythematosus, susceptibility to, 12 biolink:Disease mondo OMIM:612254 http://identifiers.org/omim/612254 http://purl.obolibrary.org/obo/MONDO_0012836 systemic lupus erythematosus, susceptibility to, 12; SLEB12|systemic lupus erythematosus, susceptibility to, 12|SLEB12 predisposition UBERON:0006061 process of vertebra biolink:AnatomicalEntity mondo A process projection from a part of the vertebra such as centrum or arches. Examples: transverse process, diapophyses, parapophyses, and zygapophyses (both the cranial zygapophyses and the caudal zygapophyses). http://purl.obolibrary.org/obo/UBERON_0006061 spinous process|vertebral process|vertebra process MONDO:0012837 inflammatory bowel disease 15 biolink:Disease mondo MESH:C567381|UMLS:C2677094|OMIM:612255|DOID:0110897 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21. UMLS:C2677094|MESH:C567381|http://identifiers.org/omim/612255|DOID:0110897 http://purl.obolibrary.org/obo/MONDO_0012837 inflammatory bowel disease type 15|inflammatory bowel disease 15|IBD15|inflammatory bowel disease 15; IBD15 MONDO:0012834 systemic lupus erythematosus, susceptibility to, 10 biolink:Disease mondo OMIM:612251 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene. http://identifiers.org/omim/612251 http://purl.obolibrary.org/obo/MONDO_0012834 SLEB10|susceptibility to systemic lupus erythematosus 10|systemic lupus erythematosus, susceptibility to, 10|systemic lupus erythematosus (disease) caused by mutation in IRF5|systemic lupus erythematosus, susceptibility to, 10; SLEB10|IRF5 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, type 10 predisposition MONDO:0012835 systemic lupus erythematosus, susceptibility to, 11 biolink:Disease mondo OMIM:612253 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene. http://identifiers.org/omim/612253 http://purl.obolibrary.org/obo/MONDO_0012835 systemic lupus erythematosus, susceptibility to, type 11|susceptibility to systemic lupus erythematosus 11|systemic lupus erythematosus, susceptibility to, 11|STAT4 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, 11; SLEB11|SLEB11|systemic lupus erythematosus (disease) caused by mutation in STAT4 predisposition MONDO:0012838 inflammatory bowel disease 16 biolink:Disease mondo MESH:C567380|OMIM:612259|UMLS:C2677093|DOID:0110896 An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32. UMLS:C2677093|MESH:C567380|http://identifiers.org/omim/612259|DOID:0110896 http://purl.obolibrary.org/obo/MONDO_0012838 inflammatory bowel disease type 16|IBD16|inflammatory bowel disease 16|inflammatory bowel disease 16; IBD16 MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency biolink:Disease mondo UMLS:C2677092|ICD10:D84.8|GARD:0012638|MESH:C567379|OMIM:612260|Orphanet:183713 Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. UMLS:C2677092|MESH:C567379|ORPHA:183713|http://identifiers.org/omim/612260 http://purl.obolibrary.org/obo/MONDO_0012839 MyD88 deficiency; MYD88D|MyD88 deficiency|MYD88D|pyogenic bacterial infections, recurrent, due to MyD88 deficiency|recurrent pyogenic bacterial infections due to MyD88 deficiency ordo_disease MONDO:0012840 inflammatory bowel disease 17 biolink:Disease mondo MESH:C567378|DOID:0110883|OMIM:612261|UMLS:C2677091 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene. http://identifiers.org/omim/612261|DOID:0110883|UMLS:C2677091|MESH:C567378 http://purl.obolibrary.org/obo/MONDO_0012840 inflammatory bowel disease caused by mutation in IL23R|inflammatory bowel disease type 17|inflammatory bowel disease 17|IBD17|IL23R inflammatory bowel disease|inflammatory bowel disease 17; IBD17 UBERON:0006068 bone of tail biolink:AnatomicalEntity mondo A bone that is part of a post-anal tail. http://purl.obolibrary.org/obo/UBERON_0006068 tail vertebra|tail bone HGNC:4396 GNB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4396 UBERON:0006067 musculature of hindlimb zeugopod biolink:AnatomicalEntity mondo Any collection of muscles that is part of a hindlimb zeugopod. http://purl.obolibrary.org/obo/UBERON_0006067 muscle group of leg|leg musculature|set of muscles of leg HGNC:4394 GNAT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4394 UBERON:0006065 hemal arch biolink:AnatomicalEntity mondo A vertebral arch that is attached to the ventral surface or the vertebral centrum and encloses and protects the caudal artery and vein ventrally. http://purl.obolibrary.org/obo/UBERON_0006065 chevron|ventral arcocentrum|haemal arch|ventral arch MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 biolink:Disease mondo OMIM:612269 Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene. http://identifiers.org/omim/612269 http://purl.obolibrary.org/obo/MONDO_0012843 ECA5|epilepsy, childhood absence, susceptibility to, 5|epilepsy, childhood absence, susceptibility to, type 5|susceptibility to childhood absence epilepsy 5|GABRB3 childhood absence epilepsy|epilepsy, childhood absence, susceptibility to, 5; ECA5|childhood absence epilepsy caused by mutation in GABRB3 predisposition HGNC:4393 GNAT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4393 MONDO:0012844 primary ciliary dyskinesia 8 biolink:Disease mondo DOID:0110616|OMIM:612274|MESH:C567373|ICD10:Q34.8|UMLS:C2677085 A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25. http://identifiers.org/omim/612274|MESH:C567373|DOID:0110616|UMLS:C2677085 http://purl.obolibrary.org/obo/MONDO_0012844 primary ciliary dyskinesia 8 with or without situs inversus|ciliary dyskinesia, primary, 8|CILD8|ciliary dyskinesia, primary, 8, with or without situs inversus|ciliary dyskinesia, primary, 8; CILD8|primary ciliary dyskinesia type 8 HGNC:4392 GNAS biolink:OntologyClass mondo http://identifiers.org/hgnc/4392 MONDO:0012841 inflammatory bowel disease 18 biolink:Disease mondo UMLS:C2677090|DOID:0110888|MESH:C567377|OMIM:612262 An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1. http://identifiers.org/omim/612262|MESH:C567377|DOID:0110888|UMLS:C2677090 http://purl.obolibrary.org/obo/MONDO_0012841 inflammatory bowel disease 18; IBD18|IBD18|inflammatory bowel disease type 18|inflammatory bowel disease 18 MONDO:0012842 CMM7 biolink:Disease mondo OMIM:612263 http://identifiers.org/omim/612263 http://purl.obolibrary.org/obo/MONDO_0012842 melanoma, cutaneous malignant, susceptibility to, 7|melanoma, cutaneous malignant, susceptibility to, 7; CMM7|CMM7 predisposition HGNC:4390 GNAQ biolink:OntologyClass mondo http://identifiers.org/hgnc/4390 GO:0051052 regulation of DNA metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving DNA. http://purl.obolibrary.org/obo/GO_0051052 regulation of DNA metabolism MONDO:0000847 obsolete pycnodysostosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000847 MONDO:0000846 obsolete craniodiaphyseal dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000846 GO:0051053 negative regulation of DNA metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving DNA. http://purl.obolibrary.org/obo/GO_0051053 down regulation of DNA metabolic process|inhibition of DNA metabolic process|downregulation of DNA metabolic process|negative regulation of DNA metabolism|down-regulation of DNA metabolic process MONDO:0024813 pulmonary sulcus neoplasm biolink:Disease mondo NCIT:C27710 A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. NCIT:C27710 http://purl.obolibrary.org/obo/MONDO_0024813 pulmonary sulcus tumor|pulmonary sulcus neoplasm MONDO:0000845 fibrous dysplasia biolink:Disease mondo ICD9:733.29|SCTID:254145001|NCIT:C34609|DOID:0080031 A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures. DOID:0080031|NCIT:C34609|SNOMEDCT:254145001 http://purl.obolibrary.org/obo/MONDO_0000845 fibrous dysplasia of bone GO:0051050 positive regulation of transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051050 up-regulation of transport|up regulation of transport|activation of transport|stimulation of transport|upregulation of transport GO:0051051 negative regulation of transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051051 down regulation of transport|inhibition of transport|downregulation of transport|down-regulation of transport MONDO:0000844 obsolete spondyloepimetaphyseal dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000844 GO:0051056 regulation of small GTPase mediated signal transduction biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. http://purl.obolibrary.org/obo/GO_0051056 regulation of small GTPase-mediated signal transduction GO:0051057 positive regulation of small GTPase mediated signal transduction biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of small GTPase mediated signal transduction. http://purl.obolibrary.org/obo/GO_0051057 up-regulation of small GTPase mediated signal transduction|up regulation of small GTPase mediated signal transduction|activation of small GTPase mediated signal transduction|stimulation of small GTPase mediated signal transduction|positive regulation of small GTPase-mediated signal transduction|upregulation of small GTPase mediated signal transduction MONDO:0000849 fibrogenesis imperfecta ossium biolink:Disease mondo DOID:0080040 A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. DOID:0080040 http://purl.obolibrary.org/obo/MONDO_0000849 baker's disease GO:0051054 positive regulation of DNA metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving DNA. http://purl.obolibrary.org/obo/GO_0051054 up-regulation of DNA metabolic process|up regulation of DNA metabolic process|activation of DNA metabolic process|stimulation of DNA metabolic process|upregulation of DNA metabolic process|positive regulation of DNA metabolism GO:0051055 negative regulation of lipid biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. http://purl.obolibrary.org/obo/GO_0051055 negative regulation of lipid anabolism|negative regulation of lipid synthesis|downregulation of lipid biosynthetic process|negative regulation of lipid formation|down regulation of lipid biosynthetic process|inhibition of lipid biosynthetic process|negative regulation of lipogenesis|down-regulation of lipid biosynthetic process|negative regulation of lipid biosynthesis MONDO:0000848 obsolete axial osteomalacia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000848 MONDO:0000861 obsolete tubular aggregate myopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000861 MONDO:0000860 obsolete neural tube defect biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000860 MONDO:0000865 congenital fiber-type disproportion biolink:Disease mondo DOID:0080102 DOID:0080102 http://purl.obolibrary.org/obo/MONDO_0000865 MONDO:0000864 obsolete congenital myopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000864 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia biolink:Disease mondo UMLS:CN220387|GARD:0003885|MESH:C536101|DOID:0080099|Orphanet:2598|OMIMPS:600462|SCTID:724138007|ICD10:G71.3 Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. SNOMEDCT:724138007|ORPHA:2598|MESH:C536101|UMLS:CN220387|DOID:0080099 http://purl.obolibrary.org/obo/MONDO_0000863 myopathy with lactic acidosis and sideroblastic anemia|MLASA|MSA|sideroblastic anemia and mitochondrial myopathy|myopathy, lactic acidosis, and siderblastic anemia|mitochondrial myopathy and sideroblastic anemia|myopathy, lactic acidosis and sideroblastic anemia ordo_disease MONDO:0024812 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024812 MONDO:0000862 obsolete reducing body myopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000862 MONDO:0012825 extraskeletal myxoid chondrosarcoma biolink:Disease mondo Orphanet:209916|DOID:6496|UMLS:C1275278|ICD10:C49.9|ICD9:171.9|OMIM:612237|NCIT:C27502|ONCOTREE:EMCHS|SCTID:404079008|MESH:C563195 A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs. DOID:6496|http://identifiers.org/omim/612237|ORPHA:209916|SNOMEDCT:404079008|MESH:C563195|UMLS:C1275278|NCIT:C27502 http://purl.obolibrary.org/obo/MONDO_0012825 extraosseous chondrosarcoma|myxoid extraskeletal chondrosarcoma|EMC|chondrosarcoma, extraskeletal myxoid|extraskeletal chondrosarcoma|myxoid extraosseous chondrosarcoma ordo_disease MONDO:0012826 scoliosis, isolated, susceptibility to, 4 biolink:Disease mondo OMIM:612238 http://identifiers.org/omim/612238 http://purl.obolibrary.org/obo/MONDO_0012826 IS4|scoliosis, isolated, susceptibility to, 4|scoliosis, isolated, susceptibility to, 4; IS4 predisposition MONDO:0012823 CRCS7 biolink:Disease mondo OMIM:612232 http://identifiers.org/omim/612232 http://purl.obolibrary.org/obo/MONDO_0012823 colorectal cancer, susceptibility to, 7; CRCS7|CRCS7|colorectal cancer, susceptibility to, on chromosome 11|colorectal cancer, susceptibility to, 7 predisposition MONDO:0012824 hypomyelinating leukodystrophy 4 biolink:Disease mondo DOID:0060789|MESH:C567390|UMLS:C2677109|Orphanet:280288|ICD10:E75.2|OMIM:612233 Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene. UMLS:C2677109|MESH:C567390|http://identifiers.org/omim/612233|ORPHA:280288|DOID:0060789 http://purl.obolibrary.org/obo/MONDO_0012824 leukodystrophy caused by mutation in HSPD1|HSPD1 leukodystrophy|mitochondrial HSP60 chaperonopathy|mitochondrial Hsp60 chaperonopathy|Pelizaeus-Merzbacher-like disease due to HSPD1 mutation|hypomyelinating leukodystrophy type 4|leukodystrophy, hypomyelinating, 4|leukodystrophy, hypomyelinating, 4; HLD4|HLD4|Mitchap60 disease|MitCHAP60 disease|leukodystrophy, hypomyelinating, type 4 ordo_clinical_subtype NCBITaxon:41687 Scedosporium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41687 MONDO:0012829 inflammatory bowel disease 12 biolink:Disease mondo UMLS:C2677105|MESH:C567388|DOID:0110887|OMIM:612241 An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3 UMLS:C2677105|http://identifiers.org/omim/612241|MESH:C567388|DOID:0110887 http://purl.obolibrary.org/obo/MONDO_0012829 inflammatory bowel disease type 12|inflammatory bowel disease 12|inflammatory bowel disease 12; IBD12|IBD12 MONDO:0012827 scoliosis, isolated, susceptibility to, 5 biolink:Disease mondo OMIM:612239 http://identifiers.org/omim/612239 http://purl.obolibrary.org/obo/MONDO_0012827 scoliosis, isolated, susceptibility to, 5|scoliosis, isolated, susceptibility to, 5; IS5|IS5 predisposition MONDO:0012828 atrial fibrillation, familial, 7 biolink:Disease mondo OMIM:612240|UMLS:C2677106|MESH:C567389 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene. UMLS:C2677106|MESH:C567389|http://identifiers.org/omim/612240 http://purl.obolibrary.org/obo/MONDO_0012828 ATFB7|atrial fibrillation, familial, type 7|atrial fibrillation, familial, 7|atrial fibrillation, familial, 7; ATFB7|familial atrial fibrillation caused by mutation in KCNA5|KCNA5 familial atrial fibrillation UBERON:0006058 multi-limb segment region biolink:AnatomicalEntity mondo A collection of two or more connected limb segments. Examples: arm (comprising stylopod and zeugopod regions). http://purl.obolibrary.org/obo/UBERON_0006058 UBERON:0006056 posterior surface of head biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006056 MONDO:0012832 inflammatory bowel disease 14 biolink:Disease mondo OMIM:612245|DOID:0110895|MESH:C567383|UMLS:C2677100 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene. UMLS:C2677100|http://identifiers.org/omim/612245|MESH:C567383|DOID:0110895 http://purl.obolibrary.org/obo/MONDO_0012832 inflammatory bowel disease type 14|inflammatory bowel disease 14|IBD14|IRF5 inflammatory bowel disease|inflammatory bowel disease 14; IBD14|inflammatory bowel disease caused by mutation in IRF5 MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome biolink:Disease mondo Orphanet:93262|DOID:0111161|SCTID:702361006|NCIT:C38145|ICD10:Q75.1|OMIM:612247|MESH:C567382 Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). SNOMEDCT:702361006|http://identifiers.org/omim/612247|MESH:C567382|DOID:0111161|NCIT:C38145|ORPHA:93262 http://purl.obolibrary.org/obo/MONDO_0012833 Crouzon syndrome with acanthosis nigricans; can|Chronic kidney allograft nephropathy|chronic allograft nephropathy|Crouzon syndrome with acanthosis nigricans|Crouzon-dermoskeletal syndrome|Crouzonodermoskeletal syndrome|CAN ordo_malformation_syndrome MONDO:0012830 chromosome 10q23 deletion syndrome biolink:Disease mondo OMIM:612242|Orphanet:276413|ICD10:Q93.5|GARD:0013018|DOID:0060389|MESH:C567385|UMLS:C2677102|UMLS:CN202618 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. http://identifiers.org/omim/612242|UMLS:CN202618|MESH:C567385|DOID:0060389|ORPHA:276413|UMLS:C2677102 http://purl.obolibrary.org/obo/MONDO_0012830 10q22.3q23.3 microdeletion syndrome|juvenile polyposis, infantile|chromosome 10q23 deletion syndrome|monosomy 10q22.3q23.3|deletion 10q22.3q23.3|10q22.3q23 microdeletion syndrome|chromosome 10q22.3-q23.2 deletion syndrome|Del(10)(q22.3q23.3)|juvenile polyposis of infancy|chromosome 10Q22.3-q23.2 deletion syndrome gard_rare|ordo_malformation_syndrome UBERON:0006052 digit 5 biolink:AnatomicalEntity mondo A digit that is part of a digit 5 plus metapodial segment. http://purl.obolibrary.org/obo/UBERON_0006052 autopod digit 5|limb digit 5|fifth digit|digit V|digiti minimi MONDO:0012831 inflammatory bowel disease 13 biolink:Disease mondo OMIM:612244|UMLS:C2677101|MESH:C567384|DOID:0110893 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene. http://identifiers.org/omim/612244|MESH:C567384|DOID:0110893|UMLS:C2677101 http://purl.obolibrary.org/obo/MONDO_0012831 inflammatory bowel disease type 13|ABCB1 inflammatory bowel disease|inflammatory bowel disease caused by mutation in ABCB1|inflammatory bowel disease 13|IBD13|inflammatory bowel disease 13; IBD13 MONDO:0000858 neuronal intestinal dysplasia biolink:Disease mondo UMLS:C0345244|SCTID:253783001|ICD9:751.5|DOID:0080072 UMLS:C0345244|DOID:0080072|SNOMEDCT:253783001 http://purl.obolibrary.org/obo/MONDO_0000858 NCBITaxon:6752 Brachyura organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6752 short-tailed crabs|true crabs MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 biolink:Disease mondo DOID:0080069 A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. DOID:0080069 http://purl.obolibrary.org/obo/MONDO_0000857 MONDO:0000856 obsolete Charcot-Marie-Tooth disease type 6 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000856 MONDO:0000855 obsolete acromesomelic dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000855 MONDO:0000859 spina bifida occulta (disease) biolink:Disease mondo ICD9:756.17|SCTID:76916001|COHD:381677|HP:0003298|NCIT:C101044|MESH:D016136|DOID:0080073 The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic. DOID:0080073|NCIT:C101044|SNOMEDCT:76916001|MESH:D016136 http://purl.obolibrary.org/obo/MONDO_0000859 spina bifida occulta UBERON:0006059 falx cerebri biolink:AnatomicalEntity mondo The falx cerebri, also known as the cerebral falx, so named from its sickle-like form, is a strong, arched fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. It is narrow in front, where it is attached to the crista galli of the ethmoid; and broad behind, where it is connected with the upper surface of the tentorium cerebelli. Its upper margin is convex, and attached to the inner surface of the skull in the middle line, as far back as the internal occipital protuberance; it contains the superior sagittal sinus. Its lower margin is free and concave, and contains the inferior sagittal sinus. The falx cerebri is known to calcify with age. http://purl.obolibrary.org/obo/UBERON_0006059 cerebral falx GO:2000225 negative regulation of testosterone biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of testosterone biosynthetic process. http://purl.obolibrary.org/obo/GO_2000225 HGNC:6903 MAT1A biolink:OntologyClass mondo http://identifiers.org/hgnc/6903 GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://purl.obolibrary.org/obo/GO_0016628 HGNC:6909 MATN3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6909 GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors, other acceptors GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP. http://purl.obolibrary.org/obo/GO_0016620 HGNC:6912 MATR3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6912 HGNC:6913 MAX biolink:OntologyClass mondo http://identifiers.org/hgnc/6913 GO:2000224 regulation of testosterone biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of testosterone biosynthetic process. http://purl.obolibrary.org/obo/GO_2000224 PO:0025131 plant anatomical entity biolink:OntologyClass mondo An anatomical entity that is or was part of a plant. http://purl.obolibrary.org/obo/PO_0025131 entidad anatómica vegetal (Spanish, exact)|植物 解剖学（形態）的実体 (Japanese, exact) HGNC:6922 MBL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6922 HGNC:6929 MC1R biolink:OntologyClass mondo http://identifiers.org/hgnc/6929 HP:0001387 Joint stiffness biolink:PhenotypicFeature mondo SNOMEDCT_US:84445001|UMLS:C0162298 Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. http://purl.obolibrary.org/obo/HP_0001387 Joint stiffness|Stiff joint|Stiff joints HP:0025354 Abnormal cellular phenotype biolink:PhenotypicFeature mondo An anomaly of cellular morphology or physiology. http://purl.obolibrary.org/obo/HP_0025354 GO:2000241 regulation of reproductive process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of reproductive process. http://purl.obolibrary.org/obo/GO_2000241 HGNC:6930 MC2R biolink:OntologyClass mondo http://identifiers.org/hgnc/6930 GO:2000242 negative regulation of reproductive process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of reproductive process. http://purl.obolibrary.org/obo/GO_2000242 HGNC:6931 MC3R biolink:OntologyClass mondo http://identifiers.org/hgnc/6931 GO:2000243 positive regulation of reproductive process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of reproductive process. http://purl.obolibrary.org/obo/GO_2000243 HGNC:6932 MC4R biolink:OntologyClass mondo http://identifiers.org/hgnc/6932 HP:0001384 Abnormality of the hip joint biolink:PhenotypicFeature mondo UMLS:C4020870 An abnormality of the hip joint. http://purl.obolibrary.org/obo/HP_0001384 Abnormality of the hip joints|Abnormality of the hip joint GO:0004634 phosphopyruvate hydratase activity biolink:OntologyClass mondo Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O. http://purl.obolibrary.org/obo/GO_0004634 2-phosphoglycerate enolase activity|2-phospho-D-glycerate-hydrolase activity|2-phosphoglycerate dehydratase activity|2-phosphoglyceric dehydratase activity|gamma-enolase activity|2-phospho-D-glycerate hydro-lyase activity|phosphoenolpyruvate hydratase activity|14-3-2-protein|enolase activity|nervous-system specific enolase|2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming) GO:2000258 negative regulation of protein activation cascade biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of protein activation cascade. http://purl.obolibrary.org/obo/GO_2000258 negative regulation of protein activation pathway|negative regulation of protein activitory cascade HGNC:6936 MCCC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6936 GO:2000259 positive regulation of protein activation cascade biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein activation cascade. http://purl.obolibrary.org/obo/GO_2000259 positive regulation of protein activitory cascade|positive regulation of protein activation pathway HGNC:6937 MCCC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6937 HGNC:6938 CHST6 biolink:OntologyClass mondo http://identifiers.org/hgnc/6938 GO:0016614 oxidoreductase activity, acting on CH-OH group of donors biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/GO_0016614 oxidoreductase activity, acting on the CH-OH group of donors, other acceptors GO:2000252 negative regulation of feeding behavior biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of feeding behavior. http://purl.obolibrary.org/obo/GO_2000252 negative regulation of behavioural response to food|negative regulation of behavioral response to food|negative regulation of drinking|negative regulation of eating|negative regulation of feeding behaviour HP:0001396 Cholestasis biolink:PhenotypicFeature mondo UMLS:C0008370|SNOMEDCT_US:197446008|SNOMEDCT_US:33688009|MSH:D002779|SNOMEDCT_US:30144000 Impairment of bile flow due to obstruction in bile ducts. http://purl.obolibrary.org/obo/HP_0001396 Slowed or blocked flow of bile from liver HP:0001397 Hepatic steatosis biolink:PhenotypicFeature mondo SNOMEDCT_US:197321007|MSH:D005234|UMLS:C2711227|SNOMEDCT_US:442191002 Steatosis is a term used to denote lipid accumulation within hepatocytes. http://purl.obolibrary.org/obo/HP_0001397 Fatty infiltration of liver|Liver steatosis|Fatty liver|Steatosis GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP. http://purl.obolibrary.org/obo/GO_0016616 GO:2000253 positive regulation of feeding behavior biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of feeding behavior. http://purl.obolibrary.org/obo/GO_2000253 positive regulation of feeding behaviour|positive regulation of behavioural response to food|positive regulation of eating|positive regulation of drinking|positive regulation of behavioral response to food UBERON:0008713 pectoral girdle and thoracic body wall skeletal muscle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0008713 UBERON:0008715 muscle tissue of prostate biolink:AnatomicalEntity mondo A muscle tissue that is part of a prostate gland. http://purl.obolibrary.org/obo/UBERON_0008715 prostatic musclular tissue|prostate gland muscle tissue|prostate muscle tissue|prostatic muscle HGNC:6944 MCM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6944 UBERON:0008716 hilum of kidney biolink:AnatomicalEntity mondo An opening on medial margin of the kidney leading into the renal sinus. he renal vessels enter/leave the kidney at the hilum; the renal pelvis leaves the kidney at the hilum. http://purl.obolibrary.org/obo/UBERON_0008716 renal hilum|hilar area of the kidney GO:2000257 regulation of protein activation cascade biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein activation cascade. http://purl.obolibrary.org/obo/GO_2000257 regulation of protein activitory cascade|regulation of protein activation pathway HP:0001394 Cirrhosis biolink:PhenotypicFeature mondo SNOMEDCT_US:19943007|MSH:D008103|UMLS:C0023890 A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. http://purl.obolibrary.org/obo/HP_0001394 Hepatic cirrhosis|Scar tissue replaces healthy tissue in the liver|Liver cirrhosis HP:0001392 Abnormality of the liver biolink:PhenotypicFeature mondo UMLS:C4021780|MSH:D008107|UMLS:C0023895|SNOMEDCT_US:235856003 An abnormality of the liver. http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver|Abnormal liver|Liver disease|Liver abnormality GO:0004602 glutathione peroxidase activity biolink:OntologyClass mondo Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O. http://purl.obolibrary.org/obo/GO_0004602 glutathione:hydrogen-peroxide oxidoreductase activity|selenium-glutathione peroxidase activity|GSH peroxidase activity|reduced glutathione peroxidase activity|non-selenium glutathione peroxidase activity GO:0004601 peroxidase activity biolink:OntologyClass mondo Catalysis of the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O. http://purl.obolibrary.org/obo/GO_0004601 horseradish peroxidase (HRP)|protoheme peroxidase|lactoperoxidase activity|extensin peroxidase|oxyperoxidase activity|MPO|peroxidase reaction|myeloperoxidase activity|scopoletin peroxidase|verdoperoxidase|donor:hydrogen-peroxide oxidoreductase activity|secretory plant peroxidase activity|heme peroxidase|thiocyanate peroxidase|guaiacol peroxidase|bacterial catalase-peroxidase activity|pyrocatechol peroxidase|japanese radish peroxidase|eosinophil peroxidase activity RO:0011002 regulates activity of biolink:OntologyClass mondo The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B. http://purl.obolibrary.org/obo/RO_0011002 HGNC:6947 MCM4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6947 HGNC:6949 MCM6 biolink:OntologyClass mondo http://identifiers.org/hgnc/6949 MONDO:0000909 Bartter disease type 4B biolink:Disease mondo ICD10:E26.8|UMLS:C2751312|DOID:0110146|OMIM:613090 A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. http://identifiers.org/omim/613090|DOID:0110146|UMLS:C2751312 http://purl.obolibrary.org/obo/MONDO_0000909 Bartter syndrome, type 4b, digenic|Bartter syndrome, type 4B, neonatal, with sensorineural deafness|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome, type 4B|Bartter syndrome, type 4B, neonatal, with sensorineural deafness; BARTS4B|neonatal Bartter syndrome type 4B with sensorineural deafness|BARTS4B UBERON:0008788 posterior cranial fossa biolink:AnatomicalEntity mondo The infratentorial compartment that contains the CEREBELLUM and BRAIN STEM. It is formed by the posterior third of the superior surface of the body of the sphenoid (SPHENOID BONE), by the occipital, the petrous, and mastoid portions of the TEMPORAL BONE, and the posterior inferior angle of the PARIETAL BONE. http://purl.obolibrary.org/obo/UBERON_0008788 fossa cranii posterior|posterior fossa MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 biolink:Disease mondo OMIM:615616|DOID:0110084|ICD10:I42.8|UMLS:C3810138 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene. DOID:0110084|UMLS:C3810138|http://identifiers.org/omim/615616 http://purl.obolibrary.org/obo/MONDO_0000908 arrhythmogenic right ventricular dysplasia, familial, 13; ARVD13|arrhythmogenic right ventricular cardiomyopathy 13|ARVC13|arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3|arrhythmogenic right ventricular dysplasia type 13|ARVD13|arrhythmogenic right ventricular dysplasia, familial, 13|arrhythmogenic right ventricular dysplasia, familial, type 13|familial arrhythmogenic right ventricular dysplasia 13|CTNNA3 arrhythmogenic right ventricular cardiomyopathy UBERON:0008789 cranial fossa biolink:AnatomicalEntity mondo Any of the three large depressions in the posterior, middle, and anterior aspects of the floor of the cranial cavity http://purl.obolibrary.org/obo/UBERON_0008789 MONDO:0000907 obsolete amelogenesis imperfecta type 1C biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000907 HGNC:6953 CD46 biolink:OntologyClass mondo http://identifiers.org/hgnc/6953 HGNC:6954 MCPH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6954 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy biolink:Disease mondo DOID:0090003|DOID:0060600|SCTID:702439002|GARD:0001537|OMIM:218000|Orphanet:1496|UMLS:C0795950|ICD10:G60.0|MESH:C536446 Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait. ORPHA:1496|UMLS:C0795950|MESH:C536446|DOID:0090003|SNOMEDCT:702439002|DOID:0060600|http://identifiers.org/omim/218000 http://purl.obolibrary.org/obo/MONDO_0000902 corpus callosum, agenesis of, with neuronopathy|hereditary motor and sensory neuropathy with agenesis of the corpus callosum|ACCPN|Charlevoix disease|corpus callosum agenesis-neuronopathy syndrome|peripheral neuropathy associated with agenesis of the corpus callosum|agenesis of the corpus callosum with peripheral neuropathy; ACCPN|agenesis of corpus callosum with neuronopathy|corpus callosum agenesis neuronopathy|HMSN/ACC|agenesis of corpus callosum with polyneuropathy|Andermann syndrome|agenesis of corpus callosum with peripheral neuropathy|agenesis of the corpus callosum with peripheral neuropathy|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum ordo_disease MONDO:0000901 relapsed/refractory diffuse large B-cell lymphoma biolink:Disease mondo DOID:0080192 A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. DOID:0080192 http://purl.obolibrary.org/obo/MONDO_0000901 UBERON:0008780 inner cell mass derived epiblast biolink:AnatomicalEntity mondo An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers http://purl.obolibrary.org/obo/UBERON_0008780 embryonic epiblast MONDO:0000900 obsolete PTEN hamartoma tumor syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000900 MONDO:0000906 obsolete Alzheimer disease 5 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000906 obsolete Alzheimer's disease 5 UBERON:0008783 dorsal venous arch biolink:AnatomicalEntity mondo The dorsal venous arch of the foot is a superficial vein that connects the small saphenous vein and the great saphenous vein. Anatomically, it is defined by where the dorsal veins of the first and fifth digit, respectively, meet the great saphenous vein and small saphenous vein. http://purl.obolibrary.org/obo/UBERON_0008783 arcus venosus dorsalis pedis|dorsal venous arch of foot|arcus venosus dorsalis pedis UBERON:0008784 lower limb segment biolink:AnatomicalEntity mondo A limb segment that is part of a hindlimb. http://purl.obolibrary.org/obo/UBERON_0008784 free lower limb subdivision|subdivision of free lower limb|segment of free lower limb|free lower limb segment MONDO:0000905 obsolete cortisone reductase deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000905 UBERON:0006127 funiculus of spinal cord biolink:AnatomicalEntity mondo A funiculus of neuraxis that is part of a spinal cord. http://purl.obolibrary.org/obo/UBERON_0006127 spinal cord funiculus|white column of spinal cord UBERON:0008785 upper limb segment biolink:AnatomicalEntity mondo A limb segment that is part of a forelimb. http://purl.obolibrary.org/obo/UBERON_0008785 free upper limb subdivision|subdivision of free upper limb|segment of free upper limb|free upper limb segment MONDO:0000904 complex cortical dysplasia with other brain malformations biolink:Disease mondo DOID:0090131|OMIMPS:614039|UMLS:CN228165 DOID:0090131|UMLS:CN228165 http://purl.obolibrary.org/obo/MONDO_0000904 cortical dysplasia, complex, with other brain malformations|CDCBM MONDO:0000903 myoclonus-dystonia syndrome biolink:Disease mondo ICD9:333.99|Orphanet:36899|GARD:0007139|DOID:0090033|ICD10:G24.1|UMLS:C1834570|SCTID:439732004|MESH:C536096 Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. MESH:C536096|DOID:0090033|ORPHA:36899|UMLS:C1834570|SNOMEDCT:439732004 http://purl.obolibrary.org/obo/MONDO_0000903 myoclonus-Dystonia|Hereditary essential myoclonus|dystonia, alcohol responsive|dystonia 11|dystonia 11, myoclonic|hereditary essential myoclonus|DYT11|myoclonus-dystonia|dystonia-11, myoclonic|alcohol-responsive dystonia|DYT-SGCE|dystonia with myoclonus|myoclonic dystonia|myoclonus-dystonia syndrome|myoclonus, hereditary essential|dystonia, alcohol-responsive|myoclonic dystonia GO:0004614 phosphoglucomutase activity biolink:OntologyClass mondo Catalysis of the reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate. http://purl.obolibrary.org/obo/GO_0004614 glucose phosphomutase activity|phosphoglucose mutase activity|alpha-D-glucose 1,6-phosphomutase activity MONDO:0000920 duodenum cancer biolink:Disease mondo MESH:D004379|DOID:10021|SCTID:363403002|ICD10:C17.0|ICD9:152.0|NCIT:C9328 A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma. SNOMEDCT:363403002|DOID:10021|MESH:D004379|NCIT:C9328 http://purl.obolibrary.org/obo/MONDO_0000920 duodenum cancer|duodenal cancer|duodenal neoplasm|malignant duodenum neoplasm|malignant tumor of duodenum|malignant tumor of the duodenum|cancer of duodenum|malignant duodenal neoplasm|malignant neoplasm of duodenum|malignant duodenal tumor|malignant neoplasm of the duodenum MONDO:0000919 ampulla of vater cancer biolink:Disease mondo UMLS:C0153454|ICD9:156.2|NCIT:C3536|ICD10:C24.1|DOID:10020|SCTID:363417006 A primary or metastatic malignant neoplasm involving the ampulla of Vater. SNOMEDCT:363417006|DOID:10020|UMLS:C0153454|NCIT:C3536 http://purl.obolibrary.org/obo/MONDO_0000919 malignant neoplasm of ampulla of Vater|cancer of hepatopancreatic ampulla|malignant ampulla of Vater tumor|malignant neoplasm of the ampulla of Vater|malignant hepatopancreatic ampulla neoplasm|malignant tumour of ampulla of vater|malignant ampulla of Vater neoplasm|malignant neoplasm of hepatopancreatic ampulla|malignant tumor of ampulla of Vater|malignant tumor of the ampulla of Vater|hepatopancreatic ampulla cancer MONDO:0000918 endometritis biolink:Disease mondo EFO:1001312|DOID:1002|MESH:D004716|SCTID:78623009|UMLS:C0014179|NCIT:C26764 An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding. SNOMEDCT:78623009|DOID:1002|NCIT:C26764|MESH:D004716|UMLS:C0014179 http://purl.obolibrary.org/obo/MONDO_0000918 uterine infection|inflammation of endometrium|endometrium inflammation MONDO:0000913 hereditary spherocytosis type 2 biolink:Disease mondo UMLS:C2674219|DOID:0110917|OMIM:616649 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene. UMLS:C2674219|DOID:0110917|http://identifiers.org/omim/616649 http://purl.obolibrary.org/obo/MONDO_0000913 spherocytosis, hereditary, 2|hereditary spherocytosis type 2|spherocytosis, type 2|SPTB hereditary spherocytosis|HS2|SPH2|hereditary spherocytosis 2|spherocytosis, type 2; SPH2|hereditary spherocytosis caused by mutation in SPTB MONDO:0000912 autosomal recessive nonsyndromic deafness 5 biolink:Disease mondo UMLS:C1833319|ICD10:H90.3|OMIM:600792|DOID:0110507|MESH:C563444 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12. DOID:0110507|MESH:C563444|UMLS:C1833319|http://identifiers.org/omim/600792 http://purl.obolibrary.org/obo/MONDO_0000912 neurosensory nonsyndromic recessive deafness 5|DFNB5|autosomal recessive deafness 5|autosomal recessive nonsyndromic deafness type 5|deafness, autosomal recessive 5|deafness, autosomal recessive 5; DFNB5 MONDO:0000911 obsolete dilated cardiomyopathy 1T biolink:Disease mondo OMIM:613740|MESH:C566052|DOID:0110452|UMLS:C3151039 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene. DOID:0110452|http://identifiers.org/omim/613740|MESH:C566052|UMLS:C3151039 http://purl.obolibrary.org/obo/MONDO_0000911 moved to 115200|cardiomyopathy, dilated, 1T|cardiomyopathy, dilated, 1T; CMD1T|familial isolated dilated cardiomyopathy caused by mutation in TMPO|cardiomyopathy, dilated, type 1T|CMD1T|TMPO familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1T MONDO:0000910 retinitis pigmentosa 6 biolink:Disease mondo MESH:C564065|DOID:0110413|UMLS:C1839368|OMIM:312612|ICD10:H35.5|GARD:0010377 A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2. MESH:C564065|DOID:0110413|http://identifiers.org/omim/312612|UMLS:C1839368 http://purl.obolibrary.org/obo/MONDO_0000910 retinitis pigmentosa type 6|retinitis pigmentosa 6|RP 6|retinitis pigmentosa, X-linked recessive, 6|retinitis pigmentosa 6; RP6|RP6 gard_rare MONDO:0000917 obsolete thyroid lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000917 UBERON:0008772 proximal epiphysis of tibia biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a tibia. http://purl.obolibrary.org/obo/UBERON_0008772 upper end of tibia|head of tibia|proximal end of tibia|proximal tibial epiphysis MONDO:0000916 intestinal infectious disease biolink:Disease mondo ICD9:008.8|ICD10:A00-A09|ICD9:001-009.99|UMLS:C0152516|DOID:100|ICD10:A00.A09|SCTID:266071000|UMLS:C0178238|COHD:198678 An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. DOID:100|UMLS:C0178238|UMLS:C0152516|SNOMEDCT:266071000 http://purl.obolibrary.org/obo/MONDO_0000916 bacterial enteritis GO:0004619 phosphoglycerate mutase activity biolink:OntologyClass mondo Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate. http://purl.obolibrary.org/obo/GO_0004619 phosphoglycerate phosphomutase activity|PGA mutase activity|diphosphoglycomutase|phosphoglyceromutase activity|GriP mutase|monophosphoglyceromutase activity|D-phosphoglycerate 2,3-phosphomutase activity|PGAM activity|bisphosphoglyceromutase|PGM|MPGM|monophosphoglycerate mutase activity MONDO:0000915 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000915 GO:0004618 phosphoglycerate kinase activity biolink:OntologyClass mondo Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+). http://purl.obolibrary.org/obo/GO_0004618 3-phosphoglyceric acid kinase activity|ATP:D-3-phosphoglycerate 1-phosphotransferase activity|3-phosphoglycerate kinase activity|phosphoglyceric kinase activity|3-phosphoglycerate phosphokinase activity|3-phosphoglyceric acid phosphokinase activity|ATP:3-phospho-D-glycerate 1-phosphotransferase activity|3-PGK|ATP-3-phospho-D-glycerate-1-phosphotransferase activity|phosphoglyceric acid kinase activity|glycerophosphate kinase activity|glycerate 3-phosphate kinase activity|phosphoglycerokinase activity|PGK|3-phosphoglyceric kinase activity UBERON:0008775 proximal epiphysis of fibula biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a fibula. http://purl.obolibrary.org/obo/UBERON_0008775 fibular head|head of fibula|upper end of fibula|caput fibulae|proximal end of fibula MONDO:0000914 CADASIL 1 biolink:Disease mondo ICD10:F01.1|OMIM:125310|DOID:0111035 A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. DOID:0111035|http://identifiers.org/omim/125310 http://purl.obolibrary.org/obo/MONDO_0000914 CADASIL1|Casil|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1|CADASIL type 1|dementia, hereditary multi-infarct type|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; CADASIL1|CADASIL HGNC:6973 MDM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6973 HGNC:4315 GLE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4315 HGNC:4313 GLDC biolink:OntologyClass mondo http://identifiers.org/hgnc/4313 HGNC:4312 GCLM biolink:OntologyClass mondo http://identifiers.org/hgnc/4312 HGNC:4311 GCLC biolink:OntologyClass mondo http://identifiers.org/hgnc/4311 HGNC:6971 MDH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6971 HGNC:4319 GLI3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4319 HGNC:4318 GLI2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4318 GO:2000214 regulation of proline metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of proline metabolic process. http://purl.obolibrary.org/obo/GO_2000214 regulation of proline metabolism GO:2000215 negative regulation of proline metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process. http://purl.obolibrary.org/obo/GO_2000215 negative regulation of proline metabolism GO:2000216 positive regulation of proline metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of proline metabolic process. http://purl.obolibrary.org/obo/GO_2000216 positive regulation of proline metabolism HGNC:4326 GLRA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4326 HGNC:21082 SEC63 biolink:OntologyClass mondo http://identifiers.org/hgnc/21082 HP:0001328 Specific learning disability biolink:PhenotypicFeature mondo UMLS:C4025790 Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. http://purl.obolibrary.org/obo/HP_0001328 HGNC:21086 MIB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21086 HP:0001322 obsolete Brain very small biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0001322 HP:0001320 Cerebellar vermis hypoplasia biolink:PhenotypicFeature mondo UMLS:C1840379 Underdevelopment of the vermis of cerebellum. http://purl.obolibrary.org/obo/HP_0001320 Hypoplastic cerebellar vermis|Cerebellar vermal hypoplasia|Hypoplasia of the cerebellar vermis GO:0014046 dopamine secretion biolink:OntologyClass mondo The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone. http://purl.obolibrary.org/obo/GO_0014046 FOODON:03510019 cattle as consumer biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03510019 HP:0001324 Muscle weakness biolink:PhenotypicFeature mondo SNOMEDCT_US:26544005|MSH:D018908|UMLS:C0151786 Reduced strength of muscles. http://purl.obolibrary.org/obo/HP_0001324 Muscular weakness|Muscle weakness HP:0001339 Lissencephaly biolink:PhenotypicFeature mondo UMLS:C0266463|MSH:D054082|SNOMEDCT_US:204036008|UMLS:C1879312 A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. http://purl.obolibrary.org/obo/HP_0001339 Fewer or absent grooves in brain MONDO:0022293 vascular disorder of penis biolink:Disease mondo MEDGEN:102349|UMLS:C0156307|SCTID:198029003|NCIT:C35218|ICD9:607.82 A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma. UMLS:C0156307|SNOMEDCT:198029003|NCIT:C35218 http://purl.obolibrary.org/obo/MONDO_0022293 Penis vascular disorder|Vascular disorder of penis|penile vascular disorder|Penile Vascular Disorder|Penile vascular disorder GO:0014059 regulation of dopamine secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of dopamine. http://purl.obolibrary.org/obo/GO_0014059 HP:0001331 Absent septum pellucidum biolink:PhenotypicFeature mondo MSH:C535562|UMLS:C0431371|SNOMEDCT_US:253143001 Absence of the septum pellucidum. http://purl.obolibrary.org/obo/HP_0001331 Agenesis of the septum pellucidum|Missing septum pellucidum|Absence of the septum pellucidum|Absence of septum pellucidum HP:0001336 Myoclonus biolink:PhenotypicFeature mondo UMLS:C1854302|SNOMEDCT_US:127324008|UMLS:C0027066|SNOMEDCT_US:17450006|MSH:D009207 Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. http://purl.obolibrary.org/obo/HP_0001336 Jerking|Involuntary jerking movements|Myoclonic jerks HP:0001337 Tremor biolink:PhenotypicFeature mondo UMLS:C0040822|MSH:D014202|SNOMEDCT_US:26079004 An unintentional, oscillating to-and-fro muscle movement about a joint axis. http://purl.obolibrary.org/obo/HP_0001337 Tremor|Tremors FOODON:03510021 animal as food consumer biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03510021 HGNC:33067 SNORD116-1 biolink:OntologyClass mondo http://identifiers.org/hgnc/33067 HGNC:21062 FARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21062 HP:0001305 Dandy-Walker malformation biolink:PhenotypicFeature mondo UMLS:C0010964|MSH:D003616|SNOMEDCT_US:14447001 A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. http://purl.obolibrary.org/obo/HP_0001305 Dandy-walker anomaly|Dandy-Walker cyst HGNC:21061 SERAC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21061 HP:0001300 Parkinsonism biolink:PhenotypicFeature mondo UMLS:C0242422|MSH:D020734|SNOMEDCT_US:32798002 Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. http://purl.obolibrary.org/obo/HP_0001300 Parkinsonian disease GO:0016684 oxidoreductase activity, acting on peroxide as acceptor biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/GO_0016684 GO:0014020 primary neural tube formation biolink:OntologyClass mondo The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube. http://purl.obolibrary.org/obo/GO_0014020 primary neurulation|primary neural tube morphogenesis HGNC:21071 IYD biolink:OntologyClass mondo http://identifiers.org/hgnc/21071 HP:0001317 Abnormal cerebellum morphology biolink:PhenotypicFeature mondo UMLS:C1866129|UMLS:C0742038 Any structural abnormality of the cerebellum. http://purl.obolibrary.org/obo/HP_0001317 Cerebellar signs|Cerebellar abnormality|Abnormality of the cerebellum|Cerebellar abnormalities|Cerebellar anomaly MONDO:0010297 FG syndrome 2 biolink:Disease mondo GARD:0009923|UMLS:C1845902|OMIM:300321 Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene. UMLS:C1845902|http://identifiers.org/omim/300321 http://purl.obolibrary.org/obo/MONDO_0010297 FGS2|FG syndrome caused by mutation in FLNA|FG syndrome 2; FGS2|FG syndrome type 2|FG syndrome 2|FLNA FG syndrome gard_rare MONDO:0010296 AGMX2 biolink:Disease mondo OMIM:300310|UMLS:C1845903|MESH:C538057|GARD:0010007 UMLS:C1845903|http://identifiers.org/omim/300310|MESH:C538057 http://purl.obolibrary.org/obo/MONDO_0010296 XLA2|AGMX2|agammaglobulinemia, X-linked, type 2|agammaglobulinemia X-linked type 2|agammaglobulinemia, X-linked, type 2; AGMX2 MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency biolink:Disease mondo SCTID:238007004|UMLS:C0268117|MESH:C562583|Orphanet:79233|ICD10:E79.8|OMIM:300323|ICD9:277.2 Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. ORPHA:79233|SNOMEDCT:238007004|MESH:C562583|UMLS:C0268117|http://identifiers.org/omim/300323 http://purl.obolibrary.org/obo/MONDO_0010299 HPRT-related gout|HPRT partial deficiency|HPRT deficiency, partial|HPRT deficiency, grade I|HPRT-related hyperuricemia|Hprt1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency|KELLEY-Seegmiller syndrome|Kelley-Seegmiller syndrome|gout, HPRT-related|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|HPRT1 partial deficiency|hypoxanthine guanine phosphoribosyltransferase deficiency, grade I ordo_disease MONDO:0010298 Lesch-Nyhan syndrome biolink:Disease mondo Orphanet:510|ICD10:E79.1|UMLS:C0023374|DOID:1919|NCIT:C61255|MESH:D007926|UMLS:CN205196|GARD:0007226|OMIM:300322|ICD9:277.2|MedDRA:10057589|SCTID:10406007 Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. ORPHA:510|SNOMEDCT:10406007|UMLS:C0023374|NCIT:C61255|MESH:D007926|MEDDRA:10057589|UMLS:CN205196|DOID:1919|http://identifiers.org/omim/300322 http://purl.obolibrary.org/obo/MONDO_0010298 hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])|Lesch Nyhan disease|HPRT deficiency, complete|complete hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT deficiency, neurologic variant|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|X-linked hyperuricemia|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous]|hypoxanthine-guanine phosphoribosyltransferase deficiency|Lesch-Nyhan syndrome; LNS|HPRT complete deficiency|deficiency of IMP pyrophosphorylase|hypoxanthine guanine phosphoribosyltransferase deficiency|X-linked hyperuricemia (disorder) [ambiguous]|LNS|hypoxanthine-guanine-phosphoribosyltransferase deficiency|Lesch - Nyhan syndrome|Lesch-Nyhan syndrome|HPRT deficiency grade IV|hypoxanthine guanine phospho-ribosyltransferase 1 deficiency|hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV|Hprt1 deficiency|Lesch-Nyhan syndrome, neurologic variant|HG-PRT deficiency|HPRT deficiency|Lesch Nyhan syndrome ordo_disease MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010291 androgen insensitivity syndrome due to coactivator deficiency MONDO:0010290 MNG2 biolink:Disease mondo OMIM:300273|MESH:C564546|UMLS:C1846033 MESH:C564546|UMLS:C1846033|http://identifiers.org/omim/300273 http://purl.obolibrary.org/obo/MONDO_0010290 goiter, multinodular 2|MNG2|goiter, multinodular 2; MNG2 MONDO:0010293 hypohidrotic ectodermal dysplasia with immunodeficiency biolink:Disease mondo GARD:0009936|UMLS:C1846006|ICD10:D82.8|SCTID:703525006|OMIMPS:300291|NCIT:C118844|Orphanet:98813 ORPHA:98813|UMLS:C1846006|SNOMEDCT:703525006|NCIT:C118844 http://purl.obolibrary.org/obo/MONDO_0010293 ectodermal dysplasia, anhidrotic, with immune deficiency|hypohidrotic ectodermal dysplasia with immune deficiency|Xhm-Ed|anhidrotic ectodermal dysplasia with immune deficiency|hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia|EDA-ID|ectodermal dysplasia, hypohidrotic, with immune deficiency|anhidrotic ectodermal dysplasia with immunodeficiency|HED-ID ordo_clinical_subtype MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome biolink:Disease mondo OMIM:300280|UMLS:C1846010|MESH:C564544 MESH:C564544|UMLS:C1846010|http://identifiers.org/omim/300280 http://purl.obolibrary.org/obo/MONDO_0010292 Uruguay Faciocardiomusculoskeletal syndrome|faciocardiomusculoskeletal syndrome, Uruguay type|FCMSU|URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome; FCMSU|Fcms GO:0014033 neural crest cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. http://purl.obolibrary.org/obo/GO_0014033 MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome biolink:Disease mondo SCTID:720986005|Orphanet:69088|OMIM:300301|MESH:C564538|ICD10:Q78.2 This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. MESH:C564538|SNOMEDCT:720986005|http://identifiers.org/omim/300301|ORPHA:69088 http://purl.obolibrary.org/obo/MONDO_0010295 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; OLEDAID|ol-EDA-ID|ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema|OLEDAID ordo_disease GO:0014032 neural crest cell development biolink:OntologyClass mondo The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/GO_0014032 MONDO:0010294 X-linked severe congenital neutropenia biolink:Disease mondo UMLS:C1845987|SCTID:718882006|ICD10:D70|GARD:0003981|Orphanet:86788|MESH:C564539|OMIM:300299 This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. UMLS:C1845987|ORPHA:86788|MESH:C564539|http://identifiers.org/omim/300299|SNOMEDCT:718882006 http://purl.obolibrary.org/obo/MONDO_0010294 neutropenia, severe congenital, X-linked|Xln|severe congenital neutropenia X-linked|severe congenital neutropenia, X-linked|neutropenia, severe congenital, X-linked; SCNX|SCNX gard_rare|ordo_disease GO:0014031 mesenchymal cell development biolink:OntologyClass mondo The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/GO_0014031 GO:0004689 phosphorylase kinase activity biolink:OntologyClass mondo Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a. http://purl.obolibrary.org/obo/GO_0004689 glycogen phosphorylase kinase activity|ATP:phosphorylase-b phosphotransferase activity|PHK|phosphorylase kinase, intrinsic catalyst activity|STK17|dephosphophosphorylase kinase activity|phosphorylase kinase (phosphorylating) activity|phosphorylase B kinase activity GO:0004683 calmodulin-dependent protein kinase activity biolink:OntologyClass mondo Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. http://purl.obolibrary.org/obo/GO_0004683 caldesmon kinase (phosphorylating) activity|multifunctional calcium/calmodulin regulated protein kinase activity|microtubule-associated protein 2 kinase activity|multifunctional calcium- and calmodulin-regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase IV activity|Ca2+/calmodulin-dependent protein kinase 1 activity|calmodulin-dependent protein kinase I activity|ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity|calmodulin regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase II activity|CaMKKbeta|CaMKKalpha|calcium- and calmodulin-dependent protein kinase activity|CaM kinase II activity|Ca2+/calmodulin-dependent protein kinase kinase activity|CaMKI|CaMKII|CAM PKII|CaM kinase activity|calmodulin-dependent kinase II activity|ATP:caldesmon O-phosphotransferase activity|Ca2+/CaM-dependent kinase activity|calcium/calmodulin-dependent protein kinase type II activity|CaMKIV|Ca2+/calmodulin-dependent protein kinase activity|STK20|CaM-regulated serine/threonine kinase activity|Ca2+/calmodulin-dependent protein kinase kinase beta activity|calcium/calmodulin-dependent protein kinase activity|Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity HGNC:21042 NUS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21042 HGNC:21043 PITPNM3 biolink:OntologyClass mondo http://identifiers.org/hgnc/21043 HP:0001369 Arthritis biolink:PhenotypicFeature mondo SNOMEDCT_US:3723001|MSH:D001168|UMLS:C0003864 Inflammation of a joint. http://purl.obolibrary.org/obo/HP_0001369 Joint inflammation|Arthritis HP:0025337 Red eye biolink:PhenotypicFeature mondo A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. http://purl.obolibrary.org/obo/HP_0025337 Red eyes|Red eye HP:0001367 Abnormal joint morphology biolink:PhenotypicFeature mondo UMLS:C0240083|UMLS:C0022408|MSH:D007592|SNOMEDCT_US:399269003 An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. http://purl.obolibrary.org/obo/HP_0001367 Abnormal shape of joints|Abnormality of the joints|Anomaly of the joints|Joint disease GO:0016667 oxidoreductase activity, acting on a sulfur group of donors biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/GO_0016667 oxidoreductase activity, acting on sulfur group of donors, other acceptors|oxidoreductase activity, acting on sulphur group of donors HGNC:21057 RSPH9 biolink:OntologyClass mondo http://identifiers.org/hgnc/21057 HGNC:21056 ERMARD biolink:OntologyClass mondo http://identifiers.org/hgnc/21056 HGNC:21050 CDKAL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21050 HGNC:21054 RSPH3 biolink:OntologyClass mondo http://identifiers.org/hgnc/21054 HP:0001376 Limitation of joint mobility biolink:PhenotypicFeature mondo UMLS:C1857108 A reduction in the freedom of movement of one or more joints. http://purl.obolibrary.org/obo/HP_0001376 Decreased joint mobility|Decreased mobility of joints|Limited joint mobility|Limitation of joint mobility|Limited joint motion GO:2000272 negative regulation of signaling receptor activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity. http://purl.obolibrary.org/obo/GO_2000272 negative regulation of receptor activity GO:2000273 positive regulation of signaling receptor activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of signaling receptor activity. http://purl.obolibrary.org/obo/GO_2000273 HGNC:33020 SNORD115-1 biolink:OntologyClass mondo http://identifiers.org/hgnc/33020 HP:0001373 Joint dislocation biolink:PhenotypicFeature mondo MSH:D004204|SNOMEDCT_US:108367008|UMLS:C0012691|SNOMEDCT_US:87642003 Displacement or malalignment of joints. http://purl.obolibrary.org/obo/HP_0001373 Joint dislocations|Recurrent joint dislocations|Joint dislocation CHEBI:137982 tertiary ammonium ion biolink:ChemicalSubstance mondo An organic cation obtained by protonation of the amino group of any tertiary amino compound. http://purl.obolibrary.org/obo/CHEBI_137982 tertiary amine(1+)|tertiary ammonium ions|a tertiary amine HP:0001370 Rheumatoid arthritis biolink:PhenotypicFeature mondo UMLS:C0003873|SNOMEDCT_US:69896004|MSH:D001172 Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. http://purl.obolibrary.org/obo/HP_0001370 RA|Rheumatoid arthritis HP:0001371 Flexion contracture biolink:PhenotypicFeature mondo SNOMEDCT_US:203598005|UMLS:C0009918|UMLS:C0009917|SNOMEDCT_US:57048009|MSH:D003286|UMLS:C1850530|SNOMEDCT_US:55033002|UMLS:C0333068|SNOMEDCT_US:7890003|SNOMEDCT_US:88565003|SNOMEDCT_US:385522000 A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. http://purl.obolibrary.org/obo/HP_0001371 Joint contracture|Flexion contractures of joints|Flexion contractures|Contractures|Contracture|Flexed joint that cannot be straightened|Joint contractures GO:0016670 oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen. http://purl.obolibrary.org/obo/GO_0016670 oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor CHEBI:137980 metalloid atom biolink:ChemicalSubstance mondo An atom of an element that exhibits properties that are between those of metals and nonmetals, or that has a mixture of them. The term generally includes boron, silicon, germanium, arsenic, antimony, and tellurium, while carbon, aluminium, selenium, polonium, and astatine are less commonly included. http://purl.obolibrary.org/obo/CHEBI_137980 metalloids|metalloid HGNC:21024 CUL7 biolink:OntologyClass mondo http://identifiers.org/hgnc/21024 HGNC:21022 AARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21022 GO:2000283 negative regulation of cellular amino acid biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cellular amino acid biosynthetic process. http://purl.obolibrary.org/obo/GO_2000283 negative regulation of cellular amino acid anabolism|negative regulation of amino acid biosynthetic process|negative regulation of cellular amino acid synthesis|negative regulation of cellular amino acid formation|negative regulation of cellular amino acid biosynthesis GO:0016646 oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://purl.obolibrary.org/obo/GO_0016646 GO:2000284 positive regulation of cellular amino acid biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process. http://purl.obolibrary.org/obo/GO_2000284 positive regulation of amino acid biosynthetic process|positive regulation of cellular amino acid anabolism|positive regulation of cellular amino acid biosynthesis|positive regulation of cellular amino acid synthesis|positive regulation of cellular amino acid formation GO:0016645 oxidoreductase activity, acting on the CH-NH group of donors biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/GO_0016645 oxidoreductase activity, acting on the CH-NH group of donors, other acceptors GO:0002009 morphogenesis of an epithelium biolink:OntologyClass mondo The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. http://purl.obolibrary.org/obo/GO_0002009 epithelium morphogenesis GO:2000282 regulation of cellular amino acid biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cellular amino acid biosynthetic process. http://purl.obolibrary.org/obo/GO_2000282 regulation of cellular amino acid formation|regulation of amino acid biosynthetic process|regulation of cellular amino acid biosynthesis|regulation of cellular amino acid anabolism|regulation of cellular amino acid synthesis HGNC:21034 NDUFAF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/21034 GO:0004674 protein serine/threonine kinase activity biolink:OntologyClass mondo Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. http://purl.obolibrary.org/obo/GO_0004674 protein serine kinase activity|protein-serine kinase activity|threonine-specific protein kinase activity|protein kinase (phosphorylating) activity|serine/threonine protein kinase activity|serine protein kinase activity|protein phosphokinase activity|serine-specific protein kinase activity|serine(threonine) protein kinase activity|serine kinase activity|protein serine-threonine kinase activity GO:0004672 protein kinase activity biolink:OntologyClass mondo Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/GO_0004672 protamine kinase activity HGNC:21033 HACE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21033 GO:2000294 positive regulation of defecation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of defecation. http://purl.obolibrary.org/obo/GO_2000294 HGNC:6901 MASP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6901 HGNC:6902 MASP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6902 GO:0016651 oxidoreductase activity, acting on NAD(P)H biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/GO_0016651 oxidoreductase activity, acting on NADH or NADPH|NAD(P)H dehydrogenase|oxidoreductase activity, acting on NADH or NADPH, other acceptor GO:2000292 regulation of defecation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of defecation. http://purl.obolibrary.org/obo/GO_2000292 GO:2000293 negative regulation of defecation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of defecation. http://purl.obolibrary.org/obo/GO_2000293 MONDO:0000795 penicillin allergy biolink:Disease mondo NCIT:C34911|SCTID:91936005|ICD9:995.27|UMLS:C0030824|ICD9:V14.0|DOID:0060520 An allergy to Penicillin. UMLS:C0030824|NCIT:C34911|SNOMEDCT:91936005|DOID:0060520 http://purl.obolibrary.org/obo/MONDO_0000795 penicillin allergic disease|allergy of penicillin MONDO:0000794 beta-lactam allergy biolink:Disease mondo DOID:0060519 A allergy involving a beta-lactam. DOID:0060519 http://purl.obolibrary.org/obo/MONDO_0000794 allergy of beta-lactam|beta-lactam allergic disease MONDO:0000793 rainbow trout allergy biolink:Disease mondo DOID:0060518 A allergy involving a Oncorhynchus mykiss. DOID:0060518 http://purl.obolibrary.org/obo/MONDO_0000793 Oncorhynchus mykiss allergy|Oncorhynchus mykiss caused allergic disease|allergy of Oncorhynchus mykiss|Oncorhynchus mykiss allergic disease MONDO:0000792 obsolete zebrafish allergy biolink:Disease mondo DOID:0060517 DOID:0060517 http://purl.obolibrary.org/obo/MONDO_0000792 HGNC:23785 PIKFYVE biolink:OntologyClass mondo http://identifiers.org/hgnc/23785 MONDO:0000799 crustacean allergy biolink:Disease mondo DOID:0060524 A allergic disease involving a crustacean food product. DOID:0060524 http://purl.obolibrary.org/obo/MONDO_0000799 allergy of crustacean food product|crustacean food product allergic disease MONDO:0022103 chronic prostatitis biolink:Disease mondo SCTID:19905009|UMLS:C0085696|NCIT:C26930|ICD9:601.1 An infectious or non-infectious chronic inflammatory process that affects the prostate gland. NCIT:C26930|SNOMEDCT:19905009|UMLS:C0085696 http://purl.obolibrary.org/obo/MONDO_0022103 Chronic prostatitis|chronic prostatitis|Chronic Prostatitis MONDO:0000798 mollusc allergy biolink:Disease mondo DOID:0060523 A allergic disease involving a mollusc food product. DOID:0060523 http://purl.obolibrary.org/obo/MONDO_0000798 mollusc food product allergic disease|allergy of mollusc food product MONDO:0000797 goat milk allergy biolink:Disease mondo DOID:0060522 A allergy involving goat milk. DOID:0060522 http://purl.obolibrary.org/obo/MONDO_0000797 Capra hircus milk allergy|allergy of goat dairy food product|goat dairy food product allergic disease MONDO:0000796 cow milk allergy (disease) biolink:Disease mondo DOID:0060521|HP:0100327 A allergy involving cow mile. DOID:0060521 http://purl.obolibrary.org/obo/MONDO_0000796 cow milk allergy|Bos taurus milk allergy|cow milk based food product allergic disease|allergy of cow milk based food product MONDO:0009129 dwarfism, proportionate, with hip dislocation biolink:Disease mondo OMIM:223550|UMLS:C1857196|GARD:0010606|MESH:C565614 MESH:C565614|http://identifiers.org/omim/223550|UMLS:C1857196 http://purl.obolibrary.org/obo/MONDO_0009129 dwarfism, proportionate with hip dislocation|dwarfism, proportionate, with hip dislocation gard_rare HP:0001967 Diffuse mesangial sclerosis biolink:PhenotypicFeature mondo SNOMEDCT_US:111406002|UMLS:C0268747|MSH:C537346 Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. http://purl.obolibrary.org/obo/HP_0001967 Diffuse mesangial sclerosis glomerulopathy|Mesangial sclerosis MONDO:0010118 Threoninemia biolink:Disease mondo OMIM:273770 http://identifiers.org/omim/273770 http://purl.obolibrary.org/obo/MONDO_0010118 hyperthreoninemia|Threoninemia MONDO:0009128 dwarfism, mental retardation, and eye abnormality biolink:Disease mondo UMLS:C0796076|OMIM:223540|MESH:C535809|Orphanet:2650 ORPHA:2650|MESH:C535809|http://identifiers.org/omim/223540|UMLS:C0796076 http://purl.obolibrary.org/obo/MONDO_0009128 dwarfism, intellectual disability, and eye abnormality|dwarfism, mental retardation, and eye abnormality|Mollica syndrome MONDO:0010117 3M syndrome 1 biolink:Disease mondo OMIM:273750 Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene. http://identifiers.org/omim/273750 http://purl.obolibrary.org/obo/MONDO_0010117 three M syndrome 1; 3M1|Dolichospondylic dysplasia|3M syndrome|3-M syndrome caused by mutation in CUL7|three M syndrome 1|3-M syndrome caused by mutation in Cul7|Le Merrer syndrome|gloomy face syndrome|3M1|CUL7 3-M syndrome|Cul7 3-M syndrome|Yakut short stature syndrome|three M syndrome type 1 MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone biolink:Disease mondo UMLS:C1857197|MESH:C565615|GARD:0003293|OMIM:223500 MESH:C565615|http://identifiers.org/omim/223500|UMLS:C1857197 http://purl.obolibrary.org/obo/MONDO_0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone|dwarfism, low-birth-weight type with unresponsiveness to growth hormone gard_rare HP:0001965 Abnormal scalp morphology biolink:PhenotypicFeature mondo UMLS:C4025734 Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. http://purl.obolibrary.org/obo/HP_0001965 Anomaly of scalp|Abnormality of the scalp MONDO:0012779 CELIAC10 biolink:Disease mondo OMIM:612008 http://identifiers.org/omim/612008 http://purl.obolibrary.org/obo/MONDO_0012779 celiac disease, susceptibility to, 10; CELIAC10|celiac disease, susceptibility to, 10|gluten-sensitive enteropathy, susceptibility to, 10|CELIAC10 predisposition MONDO:0010119 Glanzmann's thrombasthenia biolink:Disease mondo SCTID:32942005|Orphanet:849|GARD:0002478|NCIT:C61249|OMIM:273800|ICD10:D69.1|MESH:D013915|DOID:2219 Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia. ORPHA:849|http://identifiers.org/omim/273800|NCIT:C61249|DOID:2219|SNOMEDCT:32942005|MESH:D013915 http://purl.obolibrary.org/obo/MONDO_0010119 deficiency of GP IIb-IIIa complex|Glanzmann thrombasthenia; GT|Platelet fibrinogen receptor, deficiency of|Glanzmann thrombasthenia|thrombasthenia|GP IIb-IIIa Complex, deficiency of|platelet glycoprotein IIb-IIIa deficiency|Diacyclothrombopathia 2B 3A|Thrombocytasthenia|glycoprotein Complex IIb-IIIa, deficiency of|Platelet glycoprotein 2B 3A deficiency|glycoprotein IIb/IIIa defect|deficiency of glycoprotein complex IIb-IIIa|bleeding disorder, Platelet-type, 2|BDPLT2|platelet-type bleeding disorder 2|Glanzmann thrombasthenia type A|GT|deficiency of GP 2B 3A complex|deficiency of platelet fibrinogen receptor|thrombasthenia of Glanzmann and Naegeli|Platelet glycoprotein IIb-IIIa deficiency ordo_disease MONDO:0009126 duodenal atresia (disease) biolink:Disease mondo OMIM:223400|Orphanet:1203|SCTID:51118003|ICD10:Q41.0|HP:0002247|GARD:0000054|MedDRA:10013812|ICD9:751.1|UMLS:C0266174|DOID:0080216|NCIT:C101025|MESH:C535720 Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen. SNOMEDCT:51118003|NCIT:C101025|MESH:C535720|http://identifiers.org/omim/223400|MEDDRA:10013812|UMLS:C0266174|ORPHA:1203|DOID:0080216 http://purl.obolibrary.org/obo/MONDO_0009126 congenital atresia of duodenum|atresia of duodenum|duodenal stenosis|duodenal atresia|congenital duodenal atresia ordo_morphological_anomaly|gard_rare HP:0001966 Mesangial abnormality biolink:PhenotypicFeature mondo UMLS:C4025733 An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. http://purl.obolibrary.org/obo/HP_0001966 MONDO:0000791 carp allergy biolink:Disease mondo DOID:0060516 A allergy involving a Cyprinus carpio. DOID:0060516 http://purl.obolibrary.org/obo/MONDO_0000791 Cyprinus carpio fish allergy|Cyprinus carpio caused allergic disease|allergy of Cyprinus carpio|Cyprinus carpio allergic disease MONDO:0009125 dopamine beta-hydroxylase, plasma, thermolability of biolink:Disease mondo OMIM:223380 http://identifiers.org/omim/223380 http://purl.obolibrary.org/obo/MONDO_0009125 dopamine beta-hydroxylase, plasma, thermolability of MONDO:0009124 Dubowitz syndrome biolink:Disease mondo SCTID:2593002|UMLS:C0175691|GARD:0006290|ICD9:742.8|ICD10:Q87.1|MedDRA:10059589|NCIT:C125591|Orphanet:235|OMIM:223370|DOID:14796|MESH:C535718 Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. ORPHA:235|UMLS:C0175691|MEDDRA:10059589|DOID:14796|MESH:C535718|NCIT:C125591|SNOMEDCT:2593002|http://identifiers.org/omim/223370 http://purl.obolibrary.org/obo/MONDO_0009124 intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci|Dubowitz syndrome|Dubowitz's syndrome|intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci|dwarfism-eczema-peculiar facies syndrome gard_rare|ordo_malformation_syndrome MONDO:0000790 Atlantic salmon allergy biolink:Disease mondo DOID:0060515 A allergy involving a Salmo salar. DOID:0060515 http://purl.obolibrary.org/obo/MONDO_0000790 Salmo salar caused allergic disease|Salmo salar allergic disease|allergy of Salmo salar|Salmo salar fish allergy MONDO:0009123 dopamine beta-hydroxylase deficiency biolink:Disease mondo SCTID:237923004|GARD:0001903|MESH:C535600|ICD9:270.8|GARD:1903|Orphanet:230|ICD10:G90.8|OMIM:223360|UMLS:C0342687|DOID:0090145 Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension. DOID:0090145|UMLS:C0342687|MESH:C535600|http://identifiers.org/omim/223360|SNOMEDCT:237923004|ORPHA:230 http://purl.obolibrary.org/obo/MONDO_0009123 dopamine beta hydroxylase deficiency|dopamine BETA-HYDROXYLASE deficiency, congenital|norepinephrine deficiency|congenital dopamine beta-hydroxylase deficiency|noradrenaline deficiency ordo_disease|gard_rare MONDO:0009122 Dohle bodies and leukemia biolink:Disease mondo OMIM:223350|MESH:C565617|UMLS:C1857225 MESH:C565617|http://identifiers.org/omim/223350|UMLS:C1857225 http://purl.obolibrary.org/obo/MONDO_0009122 Dohle bodies and leukemia MONDO:0010121 thrombocytopenia-absent radius syndrome biolink:Disease mondo GARD:0005116|MedDRA:10071719|OMIM:274000|NCIT:C99038|SCTID:85589009|Orphanet:3320|UMLS:C0175703|ICD10:Q87.2|DOID:14699|ICD9:759.89 Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. ORPHA:3320|MEDDRA:10071719|http://identifiers.org/omim/274000|SNOMEDCT:85589009|UMLS:C0175703|NCIT:C99038|DOID:14699 http://purl.obolibrary.org/obo/MONDO_0010121 chromosome 1Q21.1 deletion syndrome, 200-Kb|thrombocytopenia-absent radius syndrome; TAR|thrombocytopenia absent radii|thrombocytopenia-absent radius syndrome|Tar syndrome|TAR|TAR syndrome|absent radii and thrombocytopenia|thrombocytopenia with absent radii (TAR) syndrome|thrombocytopenia absent radius syndrome|chromosome 1q21.1 deletion syndrome|radial aplasia-thrombocytopenia syndrome ordo_malformation_syndrome MONDO:0009121 von Voss-Cherstvoy syndrome biolink:Disease mondo Orphanet:3439|MESH:C565618|GARD:0001894|ICD10:Q87.8|UMLS:C1857226|SCTID:719021005|OMIM:223340 Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. MESH:C565618|SNOMEDCT:719021005|http://identifiers.org/omim/223340|ORPHA:3439|UMLS:C1857226 http://purl.obolibrary.org/obo/MONDO_0009121 phocomelia, thrombocytopenia, encephalocele, urogenital malformations|von Voss-Cherstvoy syndrome|Von Voss Cherstvoy syndrome|phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome|phocomelia thrombocytopenia encephalocele and urogenital malformations|DK phocomelia syndrome ordo_malformation_syndrome MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency biolink:Disease mondo OMIM:612016|ICD10:G11.1|UMLS:C4511089|SCTID:725394006|Orphanet:139485|MESH:C567436|GARD:0010294|UMLS:C2677589|DOID:0070241 This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy. DOID:0070241|http://identifiers.org/omim/612016|UMLS:C2677589|MESH:C567436|SNOMEDCT:725394006|UMLS:C4511089|ORPHA:139485 http://purl.obolibrary.org/obo/MONDO_0012784 autosomal recessive cerebellar ataxia type 2|coenzyme Q10 deficiency, primary, 4; COQ10D4|autosomal recessive ataxia due to coenzyme Q10 deficiency|coenzyme Q10 deficiency, primary, type 4|autosomal recessive spinocerebellar ataxia 9|coenzyme Q10 deficiency, primary, 4|spinocerebellar ataxia, autosomal recessive 9|SCAR9|COQ10D4|autosomal recessive spinocerebellar ataxia type 9|ARCA2 ordo_disease HGNC:4298 GLB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4298 MONDO:0012785 infantile hypertrophic pyloric stenosis type 3 biolink:Disease mondo UMLS:C2677588|OMIM:612017|MESH:C567435 http://identifiers.org/omim/612017|UMLS:C2677588|MESH:C567435 http://purl.obolibrary.org/obo/MONDO_0012785 pyloric stenosis, infantile hypertrophic, 3|IHPS3|pyloric stenosis, infantile hypertrophic, 3; IHPS3 MONDO:0010120 THC3 biolink:Disease mondo UMLS:C2678311|MESH:C567487|OMIM:273900 UMLS:C2678311|MESH:C567487|http://identifiers.org/omim/273900 http://purl.obolibrary.org/obo/MONDO_0010120 thrombocytopenia, autosomal recessive, 3|thrombocytopenia 3|THC3|thrombocytopenia 3; THC3 MONDO:0009120 marfanoid syndrome, De Silva type biolink:Disease mondo GARD:0003401|MESH:C565619|Orphanet:2464|OMIM:223330|UMLS:C1857227 Marfanoid syndrome, da Silva type is characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions. MESH:C565619|http://identifiers.org/omim/223330|UMLS:C1857227|ORPHA:2464 http://purl.obolibrary.org/obo/MONDO_0009120 diverticulosis of bowel, hernia, and retinal detachment|Marphanoid syndrome type De Silva ordo_malformation_syndrome|gard_rare MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome biolink:Disease mondo ICD10:D82.8|OMIM:274190|UMLS:C1848818|Orphanet:2951|MESH:C564770 Absent thumb-short stature-immunodeficiency is an exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. UMLS:C1848818|http://identifiers.org/omim/274190|ORPHA:2951|MESH:C564770 http://purl.obolibrary.org/obo/MONDO_0010123 thumb agenesis, short stature, and immunodeficiency ordo_malformation_syndrome MONDO:0012782 CELIAC13 biolink:Disease mondo OMIM:612011 http://identifiers.org/omim/612011 http://purl.obolibrary.org/obo/MONDO_0012782 celiac disease, susceptibility to, 13|gluten-sensitive enteropathy, susceptibility to, 13|CELIAC13|celiac disease, susceptibility to, 13; CELIAC13 predisposition HGNC:4296 GLA biolink:OntologyClass mondo http://identifiers.org/hgnc/4296 MONDO:0010122 congenital thrombotic thrombocytopenic purpura biolink:Disease mondo Orphanet:93583|ICD10:M31.3|ICD9:287.33|OMIM:274150|GARD:0009430|SCTID:373420004|NCIT:C131657 Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. ORPHA:93583|SNOMEDCT:373420004|http://identifiers.org/omim/274150|NCIT:C131657 http://purl.obolibrary.org/obo/MONDO_0010122 Upshaw Factor, deficiency of|thrombotic microangiopathy, familial|Microangiopathic hemolytic Anemia|TTP|thrombotic thrombocytopenic purpura, congenital; TTP|USS|congenital ADAMTS-13 deficiency|congenital TTP|Schulman-Upshaw syndrome|Microangiopathic hemolytic Anemia, congenital|thrombotic thrombocytopenic purpura, familial|thrombotic thrombocytopenic purpura, congenital|familial TTP|hereditary thrombotic thrombocytopenic purpura|congenital ADAMTS13 deficiency|Upshaw-Schulman syndrome|TTP, congenital ordo_clinical_subtype MONDO:0012783 RFT1-CDG biolink:Disease mondo Orphanet:244310|GARD:0012394|OMIM:612015|ICD10:E77.8|MESH:C567437|UMLS:C2677590|SCTID:733084000 (3p21.1). SNOMEDCT:733084000|ORPHA:244310|http://identifiers.org/omim/612015|UMLS:C2677590|MESH:C567437 http://purl.obolibrary.org/obo/MONDO_0012783 CDG in|CDG syndrome type In|Man5GlcNAc2-PP-Dol flippase deficiency|congenital disorder of glycosylation type In|CDG1N|congenital disorder of glycosylation, type In|CDGIN|congenital disorder of glycosylation type 1n|CDG-In|carbohydrate deficient glycoprotein syndrome type In|congenital disorder of glycosylation, type In; CDG1N|RFT1-CDG (CDG-In) ordo_disease MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome biolink:Disease mondo MESH:C564769|Orphanet:2489|OMIM:274205|UMLS:C1848816|ICD10:Q87.8 Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. UMLS:C1848816|ORPHA:2489|http://identifiers.org/omim/274205|MESH:C564769 http://purl.obolibrary.org/obo/MONDO_0010125 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness ordo_malformation_syndrome MONDO:0012788 CHDS9 biolink:Disease mondo OMIM:612030 http://identifiers.org/omim/612030 http://purl.obolibrary.org/obo/MONDO_0012788 CHDS9|coronary heart disease, susceptibility to, 9|coronary heart disease, susceptibility to, 9; CHDS9 predisposition CHEBI:16733 D-alpha-amino acid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_16733 D-alpha-amino acids|D-alpha-amino acids|D-alpha-amino acid|D-Amino acid MONDO:0010124 thumb, distal hyperextensibility of biolink:Disease mondo OMIM:274200 http://identifiers.org/omim/274200 http://purl.obolibrary.org/obo/MONDO_0010124 thumb, distal hyperextensibility of MONDO:0012789 dystonia 16 biolink:Disease mondo GARD:0010539|ICD10:G24.1|OMIM:612067|Orphanet:210571|SCTID:722435003|UMLS:C2677567|DOID:0090048|MESH:C567430 Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. http://identifiers.org/omim/612067|UMLS:C2677567|MESH:C567430|DOID:0090048|SNOMEDCT:722435003|ORPHA:210571 http://purl.obolibrary.org/obo/MONDO_0012789 dystonia type 16|PRKRA dystonic disorder|dystonia 16|dystonia 16; DYT16|DYT16|dystonic disorder caused by mutation in PRKRA|Young-onset dystonia-(parkinsonism)|DYT-PRKRA|early-onset dystonia parkinsonism ordo_disease|gard_rare NCBITaxon:123736 Oestrus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_123736 MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome biolink:Disease mondo OMIM:612018|UMLS:C2677587|SCTID:722457005|Orphanet:247794|MESH:C567434 Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. ORPHA:247794|SNOMEDCT:722457005|http://identifiers.org/omim/612018|UMLS:C2677587|MESH:C567434 http://purl.obolibrary.org/obo/MONDO_0012786 cataract, juvenile, with microcornea and glucosuria|cataract, juvenile, with microcornea|CTRCT47|cataract, juvenile, with microcornea and glucosuria; CJMG|cataract 47|cataract, juvenile, with microcornea and glucosuria, formerly|cataract 47; CTRCT47|CJMG ordo_disease NCBITaxon:123737 Oestrus ovis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_123737 sheep bot fly MONDO:0010127 thymoma, familial biolink:Disease mondo MESH:C564767|UMLS:C1848814|OMIM:274230 An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome. UMLS:C1848814|http://identifiers.org/omim/274230|MESH:C564767 http://purl.obolibrary.org/obo/MONDO_0010127 hereditary thymoma (disease)|thymoma, familial|thymic neoplasia MONDO:0012787 hereditary spastic paraplegia 39 biolink:Disease mondo ICD10:G11.4|UMLS:C2677586|UMLS:C4304963|OMIM:612020|DOID:0110790|SCTID:719103009|GARD:0004924|Orphanet:139480|MESH:C567433 This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting. ORPHA:139480|SNOMEDCT:719103009|http://identifiers.org/omim/612020|UMLS:C2677586|MESH:C567433|UMLS:C4304963|DOID:0110790 http://purl.obolibrary.org/obo/MONDO_0012787 hereditary spastic paraplegia caused by mutation in PNPLA6|PNPLA6 hereditary spastic paraplegia|NTEMND|spastic paraplegia due to NTE mutation|NTE-related motor neuron disorder|autosomal recessive spastic paraplegia 39|spastic paraplegia 39, autosomal recessive|hereditary spastic paraplegia type 39|spastic paraplegia 39|NTE related motor neuron disorder|spastic paraplegia due to neuropathy target esterase mutation|NTE-related motor neuron disorder|spastic paraplegia 39, autosomal recessive; SPG39|SPG39|autosomal recessive spastic paraplegia type 39 ordo_disease MONDO:0010126 thymic aplasia with fetal death biolink:Disease mondo MESH:C564768|UMLS:C1848815|OMIM:274210 UMLS:C1848815|http://identifiers.org/omim/274210|MESH:C564768 http://purl.obolibrary.org/obo/MONDO_0010126 thymic aplasia with fetal death HP:0001962 Palpitations biolink:PhenotypicFeature mondo SNOMEDCT_US:80313002|UMLS:C0030252 A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. http://purl.obolibrary.org/obo/HP_0001962 Missed heart beat|Heart palpitations|Skipped heart beat|Palpitations GO:0051195 obsolete negative regulation of cofactor metabolic process biolink:OntologyClass mondo OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. http://purl.obolibrary.org/obo/GO_0051195 downregulation of cofactor metabolic process|negative regulation of cofactor metabolism|down regulation of cofactor metabolic process|inhibition of cofactor metabolic process|down-regulation of cofactor metabolic process GO:0051196 obsolete regulation of coenzyme metabolic process biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. http://purl.obolibrary.org/obo/GO_0051196 regulation of coenzyme and prosthetic group metabolic process|regulation of coenzyme and prosthetic group metabolism|regulation of coenzyme metabolism GO:0051193 obsolete regulation of cofactor metabolic process biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. http://purl.obolibrary.org/obo/GO_0051193 regulation of cofactor metabolism GO:0051194 obsolete positive regulation of cofactor metabolic process biolink:OntologyClass mondo OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. http://purl.obolibrary.org/obo/GO_0051194 up regulation of cofactor metabolic process|stimulation of cofactor metabolic process|positive regulation of cofactor metabolism|up-regulation of cofactor metabolic process|activation of cofactor metabolic process|upregulation of cofactor metabolic process MONDO:0000789 Atlantic cod allergy biolink:Disease mondo DOID:0060514 A allergy involving a Gadus morhua. DOID:0060514 http://purl.obolibrary.org/obo/MONDO_0000789 Gadus morhua fish allergy|Gadus morhua allergic disease|Gadus morhua caused allergic disease|allergy of Gadus morhua MONDO:0012780 CELIAC11 biolink:Disease mondo OMIM:612009 http://identifiers.org/omim/612009 http://purl.obolibrary.org/obo/MONDO_0012780 CELIAC11|celiac disease, susceptibility to, 11|gluten-sensitive enteropathy, susceptibility to, 11|celiac disease, susceptibility to, 11; CELIAC11 predisposition MONDO:0012781 CELIAC12 biolink:Disease mondo OMIM:612010 http://identifiers.org/omim/612010 http://purl.obolibrary.org/obo/MONDO_0012781 gluten-sensitive enteropathy, susceptibility to, 12|celiac disease, susceptibility to, 12|celiac disease, susceptibility to, 12; CELIAC12|CELIAC12 predisposition GO:0051197 obsolete positive regulation of coenzyme metabolic process biolink:OntologyClass mondo OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. http://purl.obolibrary.org/obo/GO_0051197 positive regulation of coenzyme and prosthetic group metabolism|stimulation of coenzyme metabolic process|up regulation of coenzyme metabolic process|up-regulation of coenzyme metabolic process|activation of coenzyme metabolic process|positive regulation of coenzyme metabolism|positive regulation of coenzyme and prosthetic group metabolic process|upregulation of coenzyme metabolic process GO:0051198 obsolete negative regulation of coenzyme metabolic process biolink:OntologyClass mondo OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. http://purl.obolibrary.org/obo/GO_0051198 negative regulation of coenzyme and prosthetic group metabolic process|downregulation of coenzyme metabolic process|down regulation of coenzyme metabolic process|negative regulation of coenzyme metabolism|inhibition of coenzyme metabolic process|negative regulation of coenzyme and prosthetic group metabolism|down-regulation of coenzyme metabolic process MONDO:0024757 cardiovascular neoplasm biolink:Disease mondo SCTID:721573003|NCIT:C4784 A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. NCIT:C4784|SNOMEDCT:721573003 http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm|neoplasm of cardiovascular system|cardiovascular system tumor|cardiovascular system neoplasm|cardiovascular tumor|tumor of cardiovascular system MONDO:0010107 testicular regression syndrome biolink:Disease mondo UMLS:C0266427|MESH:C537770|SCTID:53599007|Orphanet:983|ICD10:Q55.0|OMIM:273250|MedDRA:10002641|ICD9:752.89 Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development. ORPHA:983|SNOMEDCT:53599007|MEDDRA:10002641|UMLS:C1261504|UMLS:C0266427|http://identifiers.org/omim/273250|MESH:C537770|UMLS:C0405582 http://purl.obolibrary.org/obo/MONDO_0010107 testicular regression, embryonic|TRS|vanishing testis syndrome|ETRS|embryonic testicular regression syndrome|testicular regression syndrome|vanishing testes syndrome|anorchia, familial|XY gonadal agenesis syndrome|testicular regression syndrome; TRS ordo_morphological_anomaly MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type biolink:Disease mondo ICD9:756.59|UMLS:C0432209|ICD10:Q77.7|GARD:0009810|Orphanet:156731|OMIM:224400|MESH:C537999|SCTID:95243004 MESH:C537999|UMLS:C0432209|http://identifiers.org/omim/224400|SNOMEDCT:95243004|ORPHA:156731 http://purl.obolibrary.org/obo/MONDO_0009139 Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type|Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type|dyssegmental dysplasia, Rolland-Desbuquois type|dyssegmental dysplasia Rolland-Desbuquois type|dyssegmental dwarfism, Rolland-Desbuquois type|Ddrd|dyssegmental dwarfism Rolland-Desbuquois type gard_rare|ordo_disease MONDO:0010106 testes, rudimentary biolink:Disease mondo OMIM:273150 http://identifiers.org/omim/273150 http://purl.obolibrary.org/obo/MONDO_0010106 testes, rudimentary MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities biolink:Disease mondo GARD:0003348|GARD:0005146|MESH:C536496|OMIM:273390 http://identifiers.org/omim/273390|MESH:C536496 http://purl.obolibrary.org/obo/MONDO_0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities|Madokoro Ohdo Sonoda syndrome|tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality gard_rare MONDO:0009138 dysosteosclerosis biolink:Disease mondo ICD10:Q78.8|SCTID:254123002|GARD:0002012|OMIM:224300|Orphanet:1782|MESH:C562973|UMLS:C0432262|ICD9:756.9 Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. SNOMEDCT:254123002|ORPHA:1782|UMLS:C0432262|http://identifiers.org/omim/224300|MESH:C562973 http://purl.obolibrary.org/obo/MONDO_0009138 dysosteosclerosis ordo_malformation_syndrome|gard_rare MONDO:0012768 HPC11 biolink:Disease mondo OMIM:611955|MESH:C567449|UMLS:C2677773 http://identifiers.org/omim/611955|UMLS:C2677773|MESH:C567449 http://purl.obolibrary.org/obo/MONDO_0012768 HPC11|prostate cancer, hereditary, 11; HPC11|prostate cancer, hereditary, 11 MONDO:0012769 HPC14 biolink:Disease mondo UMLS:C2677772|OMIM:611958|MESH:C567448 http://identifiers.org/omim/611958|UMLS:C2677772|MESH:C567448 http://purl.obolibrary.org/obo/MONDO_0012769 prostate cancer, hereditary, 14|prostate cancer, hereditary, 14; HPC14|HPC14 MONDO:0010108 testicular germ cell tumor biolink:Disease mondo ICD9:239.5|SCTID:713577007|NCIT:C8591|ICD10:C62.1|MESH:C563236|OMIM:273300|EFO:1000566|UMLS:C1336708|GARD:0013047|Orphanet:363504|DOID:5557 A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. NCIT:C8591|MESH:C563236|SNOMEDCT:713577007|UMLS:C1336708|ORPHA:363504|DOID:5557|http://identifiers.org/omim/273300 http://purl.obolibrary.org/obo/MONDO_0010108 testicular germ cell tumor|testicular germ cell neoplasms|testicular germ cell neoplasm|TGCT|testicular germ cell cancer|testis germ cell tumor|teratoma, testicular|germ cell neoplasm of testis|embryonal cell carcinoma|germ cell neoplasm of the testis|Male germ cell tumor|germ cell tumor of testis|testicular germ cell tumor; TGCT|spermatocytic seminoma|seminoma|TGCT|nonseminomatous germ cell tumors|germ cell tumor of the testis|endodermal sinus tumor ordo_group_of_disorders MONDO:0009137 dysmyelination with jaundice biolink:Disease mondo OMIM:224250|UMLS:C1857143|MESH:C565610 MESH:C565610|http://identifiers.org/omim/224250|UMLS:C1857143 http://purl.obolibrary.org/obo/MONDO_0009137 dysmyelination with jaundice HP:0001977 Abnormal thrombosis biolink:PhenotypicFeature mondo UMLS:C4025731 Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). http://purl.obolibrary.org/obo/HP_0001977 Abnormal blood clotting|Abnormal blood clot MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 biolink:Disease mondo UMLS:C1857144|OMIM:224230|GARD:0006300|SCTID:707272006|MESH:C565611|DOID:0070015 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14. MESH:C565611|http://identifiers.org/omim/224230|DOID:0070015|UMLS:C1857144|SNOMEDCT:707272006 http://purl.obolibrary.org/obo/MONDO_0009136 autosomal recessive dyskeratosis congenita 1|DKCB|dyskeratosis congenita, autosomal recessive 1; DKCB1|dyskeratosis congenita, autosomal recessive type 1|dyskeratosis congenita, autosomal recessive 1|DKCB1|dyskeratosis congenita autosomal recessive|autosomal recessive dyskeratosis congenita prototype_pattern|gard_rare MONDO:0009135 anemia, congenital dyserythropoietic, type 1a biolink:Disease mondo OMIM:224120 http://identifiers.org/omim/224120 http://purl.obolibrary.org/obo/MONDO_0009135 anemia, congenital dyserythropoietic, type Ia; CDAN1A|anemia, congenital dyserythropoietic, type Ia|dyserythropoietic Anemia, congenital, type Ia|CDA Ia|CDAN1A|anemia, congenital dyserythropoietic, type 1 MONDO:0009134 congenital dyserythropoietic anemia type 2 biolink:Disease mondo ICD10:D64.4|SCTID:68870007|ICD9:285.8|Orphanet:98873|GARD:0002001|OMIM:224100 Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. ORPHA:98873|http://identifiers.org/omim/224100|SNOMEDCT:68870007|UMLS:C1306589 http://purl.obolibrary.org/obo/MONDO_0009134 anemia, congenital dyserythropoietic, type II; CDAN2|anemia, dyserythropoietic, congenital type 2|anemia, congenital dyserythropoietic, type II|CDA type 2|CDAN2|Cda 2|dyserythropoietic Anemia, congenital, type 2|SEC23B-CDG|congenital dyserythropoietic anemia type 2|hempas anemia|CDA type II|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)|dyserythropoietic Anemia, hempas type|anemia, congenital dyserythropoietic, type 2|hereditary erythroblastic multinuclearity with Positive acidified-serum test|CDA II ordo_disease HGNC:23791 INF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/23791 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium biolink:Disease mondo MedDRA:10013140|OMIMPS:224050|GARD:0001998|Orphanet:1766|MESH:C535731|DOID:0050997|SCTID:230782004|ICD10:G11.8|NCIT:C114781 A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. DOID:0050997|MESH:C535731|NCIT:C114781|UMLS:C0394006|MEDDRA:10013140|SNOMEDCT:230782004|ORPHA:1766 http://purl.obolibrary.org/obo/MONDO_0009133 dialysis dysequilibrium syndrome|CAMRQ syndrome|cerebellar disorder, nonprogressive, with mental retardation|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar hypoplasia, VLDLR associated|VLDLRCH|cerebellar ataxia, mental retardation, and dysequilibrium|cerebellar ataxia, mental retardation and dysequlibrium syndrome|dysequilibrium syndrome|cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|DES|CAMRQ gard_rare|ordo_disease|prototype_pattern MONDO:0009132 dysautonomia-like disorder biolink:Disease mondo OMIM:224000|MESH:C535728|GARD:0009475|UMLS:C1857153 http://identifiers.org/omim/224000|MESH:C535728|UMLS:C1857153 http://purl.obolibrary.org/obo/MONDO_0009132 dysautonomia like disorder|dysautonomia-like disorder gard_rare MONDO:0010110 tetraamelia-multiple malformations syndrome biolink:Disease mondo Orphanet:3301|MESH:C536500|GARD:0000386|ICD10:Q87.8|SCTID:716249009|UMLS:C2931218 Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. UMLS:C2931218|ORPHA:3301|http://identifiers.org/omim/273395|MESH:C536500|SNOMEDCT:716249009 http://purl.obolibrary.org/obo/MONDO_0010110 TETRAAMELIA syndrome, autosomal recessive|TETRAAMELIA syndrome, autosomal recessive; TETAMS|Zimmer Taub Sova syndrome|TETAMS|Zimmer phocomelia|Tetraamelia multiple malformations X-linked ordo_malformation_syndrome MONDO:0012773 Hunter-Macdonald syndrome biolink:Disease mondo OMIM:611962|MESH:C567445|UMLS:C2677745 MESH:C567445|UMLS:C2677745|http://identifiers.org/omim/611962 http://purl.obolibrary.org/obo/MONDO_0012773 Hunter-Macdonald syndrome MONDO:0012774 chromosome 15q13.3 microdeletion syndrome biolink:Disease mondo DOID:0060394|GARD:0010296|MESH:C567439|OMIM:612001|SCTID:699254009|ICD10:Q93.5|Orphanet:199318 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. http://identifiers.org/omim/612001|MESH:C567439|SNOMEDCT:699254009|ORPHA:199318|DOID:0060394 http://purl.obolibrary.org/obo/MONDO_0012774 chromosome 15q13.3 deletion syndrome|Del(15)(q13.3)|microdeletion 15q13.3 syndrome|monosomy 15q13.3|chromosome 15q13.3 microdeletion syndrome|15q13.3 microdeletion|15q13.3 microdeletion syndrome ordo_malformation_syndrome MONDO:0009131 Riley-Day syndrome biolink:Disease mondo DOID:11589|OMIM:223900|ICD10:G90.1|MESH:D004402|UMLS:C0013364|COHD:4104196|NCIT:C84706|Orphanet:1764|SCTID:29159009|MedDRA:10039179|GARD:0007581 A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. MEDDRA:10039179|DOID:11589|MESH:D004402|NCIT:C84706|http://identifiers.org/omim/223900|UMLS:C0013364|ORPHA:1764|SNOMEDCT:29159009 http://purl.obolibrary.org/obo/MONDO_0009131 neuropathy, hereditary sensory and autonomic, type III|neuropathy, hereditary sensory and autonomic, type III; HSAN3|HSN 3|hereditary sensory and autonomic neuropathy 3|familial dysautonomia|HSAN III|dysautonomia, familial|familial autonomic nervous dysfunction|hereditary sensory and autonomic neuropathy type 3|HSAN3|neuropathy, hereditary sensory and autonomic, type 3|HSAN 3|Riley-Day syndrome|Riley Day syndrome|hereditary sensory and autonomic neuropathy type III|hereditary sensory neuropathy type 3 ordo_disease MONDO:0009130 Dyggve-Melchior-Clausen disease biolink:Disease mondo SCTID:82699004|ICD10:Q77.7|GARD:0006295|NCIT:C124844|UMLS:C0265286|DOID:0111167|OMIM:223800|Orphanet:239 Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias. MESH:C535726|SNOMEDCT:82699004|http://identifiers.org/omim/223800|NCIT:C124844|ORPHA:239|UMLS:C0265286|DOID:0111167 http://purl.obolibrary.org/obo/MONDO_0009130 DMC disease|Dyggve-Melchior-Clausen disease; DMC|DMC syndrome|DMC|Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen syndrome|pseudo-Morquio disease type I ordo_disease MONDO:0012771 asthma-related traits, susceptibility to, 7 biolink:Disease mondo OMIM:611960 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene. http://identifiers.org/omim/611960 http://purl.obolibrary.org/obo/MONDO_0012771 CHI3L1 inherited susceptibility to asthma|asthma-related traits, susceptibility to, type 7|asthma-RELATED traits, susceptibility to, 7; ASRT7|inherited susceptibility to asthma caused by mutation in CHI3L1|asthma-related traits, susceptibility to, 7|ASRT7 predisposition MONDO:0010112 thalamic degeneration, symmetric infantile biolink:Disease mondo UMLS:C2931220|Orphanet:3311|GARD:0005160|MESH:C536504|OMIM:273490 UMLS:C2931220|ORPHA:3311|http://identifiers.org/omim/273490|MESH:C536504 http://purl.obolibrary.org/obo/MONDO_0010112 thalamic degeneration, symmetric infantile|symmetrical thalamic degeneration in infants|symmetric infantile thalamic degeneration gard_rare MONDO:0012772 Stevenson-Carey syndrome biolink:Disease mondo UMLS:C2677763|OMIM:611961|MESH:C567446 MESH:C567446|UMLS:C2677763|http://identifiers.org/omim/611961 http://purl.obolibrary.org/obo/MONDO_0012772 Stevenson-Carey syndrome MONDO:0010111 odontotrichomelic syndrome biolink:Disease mondo Orphanet:2723|SCTID:239028001|UMLS:CN074199|OMIM:273400 Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive. UMLS:CN074199|SNOMEDCT:239028001|ORPHA:2723|http://identifiers.org/omim/273400 http://purl.obolibrary.org/obo/MONDO_0010111 odontotrichomelic syndrome|tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities|Freire-Maia syndrome ordo_malformation_syndrome HP:0001974 Leukocytosis biolink:PhenotypicFeature mondo MSH:D007964|UMLS:C0023518|SNOMEDCT_US:111583006 An abnormal increase in the number of leukocytes in the blood. http://purl.obolibrary.org/obo/HP_0001974 Increased blood leukocyte number|High white blood count|Elevated white blood count MONDO:0010114 thanatophoric dysplasia, Glasgow variant biolink:Disease mondo MESH:C536506|Orphanet:93275|OMIM:273680|UMLS:C1848865 ORPHA:93275|UMLS:C1848865|http://identifiers.org/omim/273680|MESH:C536506 http://purl.obolibrary.org/obo/MONDO_0010114 neonatally lethal short-limb skeletal dysplasia, Glasgow type|thanatophoric dysplasia, Glasgow variant MONDO:0012777 CELIAC8 biolink:Disease mondo OMIM:612006 http://identifiers.org/omim/612006 http://purl.obolibrary.org/obo/MONDO_0012777 celiac disease, susceptibility to, 8|CELIAC8|celiac disease, susceptibility to, 8; CELIAC8|gluten-sensitive enteropathy, susceptibility to, 8 predisposition MONDO:0010113 thalidomide susceptibility biolink:Disease mondo OMIM:273600 http://identifiers.org/omim/273600 http://purl.obolibrary.org/obo/MONDO_0010113 thalidomide susceptibility predisposition MONDO:0012778 CELIAC9 biolink:Disease mondo OMIM:612007 http://identifiers.org/omim/612007 http://purl.obolibrary.org/obo/MONDO_0012778 CELIAC9|celiac disease, susceptibility to, 9|celiac disease, susceptibility to, 9; CELIAC9|gluten-sensitive enteropathy, susceptibility to, 9 predisposition MONDO:0012775 thrombocytopenia 4 biolink:Disease mondo MESH:C567438|UMLS:C2677608|OMIM:612004 Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene. http://identifiers.org/omim/612004|MESH:C567438|UMLS:C2677608 http://purl.obolibrary.org/obo/MONDO_0012775 thrombocytopenia, autosomal dominant, 4|thrombocytopenia caused by mutation in CYCS|thrombocytopenia type 4|thrombocytopenia 4|thrombocytopenia 4; THC4|CYCS thrombocytopenia|THC4 MONDO:0010116 thoracomelic dysplasia biolink:Disease mondo OMIM:273740|UMLS:C1848863|Orphanet:1803|GARD:0010612|ICD10:Q77.2|MESH:C564773 MESH:C564773|UMLS:C2931227|UMLS:C1848863|ORPHA:1803|http://identifiers.org/omim/273740 http://purl.obolibrary.org/obo/MONDO_0010116 'thoraco-limb' dysplasia|thoracolimb dysplasia, Rivera type|Rivera-Perez-Salas syndrome|thoraco-limb dysplasia|thoracomelic dysplasia ordo_disease HP:0001972 Macrocytic anemia biolink:PhenotypicFeature mondo UMLS:C0002886|MSH:D000748|SNOMEDCT_US:83414005 A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). http://purl.obolibrary.org/obo/HP_0001972 Macrocytic anaemia MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome biolink:Disease mondo UMLS:C1848864|Orphanet:1861|MESH:C564774|GARD:0005180|ICD10:Q87.8|OMIM:273730 MESH:C564774|UMLS:C1848864|ORPHA:1861|http://identifiers.org/omim/273730 http://purl.obolibrary.org/obo/MONDO_0010115 thoracic dysplasia-hydrocephalus syndrome|thoracic dysplasia hydrocephalus syndrome ordo_malformation_syndrome|gard_rare MONDO:0012776 CELIAC7 biolink:Disease mondo OMIM:612005 http://identifiers.org/omim/612005 http://purl.obolibrary.org/obo/MONDO_0012776 celiac disease, susceptibility to, 7|celiac disease, susceptibility to, 7; CELIAC7|CELIAC7|gluten-sensitive enteropathy, susceptibility to, 7 predisposition MONDO:0034106 developmental and epileptic encephalopathy, 73 biolink:Disease mondo OMIM:618379|Orphanet:544503 ORPHA:544503|http://identifiers.org/omim/618379 http://purl.obolibrary.org/obo/MONDO_0034106 DEE73|rnf13-related severe early-onset epileptic encephalopathy|epileptic encephalopathy, early infantile, 73 ordo_disease MONDO:0034104 global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome biolink:Disease mondo Orphanet:544488 ORPHA:544488 http://purl.obolibrary.org/obo/MONDO_0034104 ordo_disease MONDO:0034103 infection-related hemolytic uremic syndrome biolink:Disease mondo Orphanet:544482 ORPHA:544482 http://purl.obolibrary.org/obo/MONDO_0034103 ordo_disease MONDO:0012770 HPC15 biolink:Disease mondo MESH:C567447|UMLS:C2677771|OMIM:611959 UMLS:C2677771|MESH:C567447|http://identifiers.org/omim/611959 http://purl.obolibrary.org/obo/MONDO_0012770 prostate cancer, hereditary, 15; HPC15|HPC15|prostate cancer, hereditary, 15 MONDO:0000773 Timothy grass allergy biolink:Disease mondo DOID:0060498 A allergy involving a Phleum pratense. DOID:0060498 http://purl.obolibrary.org/obo/MONDO_0000773 Phleum pratense caused allergic disease|allergy of Phleum pratense|Phleum pratense allergic disease MONDO:0000772 pollen allergy biolink:Disease mondo DOID:0060497 A allergy involving pollen. DOID:0060497 http://purl.obolibrary.org/obo/MONDO_0000772 pollen allergic disease|allergy of pollen MONDO:0000771 allergic respiratory disease biolink:Disease mondo DOID:0060496 A respiratory system disease with a basis in a pathological type I hypersensitivity reaction. DOID:0060496 http://purl.obolibrary.org/obo/MONDO_0000771 respiratory allergy|airway allergy|allergic form of respiratory system disease|allergic respiratory system disease MONDO:0000770 shellfish allergy biolink:Disease mondo UMLS:C0577625|SCTID:300913006|MESH:D000067208|DOID:0060495 Allergic reaction to shellfish or shellfish products. SNOMEDCT:300913006|MESH:D000067208|DOID:0060495|UMLS:C0577625 http://purl.obolibrary.org/obo/MONDO_0000770 MONDO:0024744 childhood choroid plexus neoplasm biolink:Disease mondo NCIT:C42080 A neoplasm that arises from the choroid plexus in the brain and occurs during childhood. NCIT:C42080 http://purl.obolibrary.org/obo/MONDO_0024744 choroid plexus neoplasm|pediatric choroid plexus neoplasm|pediatric choroid plexus neoplasm|childhood choroid plexus neoplasm|choroid plexus neoplasm of childhood GO:0099111 microtubule-based transport biolink:OntologyClass mondo A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/GO_0099111 MONDO:0000777 gastrointestinal allergy biolink:Disease mondo DOID:0060502 A allergic disease that involves the digestive tract. DOID:0060502 http://purl.obolibrary.org/obo/MONDO_0000777 digestive tract allergic disease|allergic disease of digestive tract MONDO:0000776 metal allergy biolink:Disease mondo ICD9:995.3|SCTID:300915004|UMLS:C0577627|DOID:0060501 A allergy involving a metal allergen. UMLS:C0577627|DOID:0060501|SNOMEDCT:300915004 http://purl.obolibrary.org/obo/MONDO_0000776 metal allergen allergic disease|allergy of metal allergen MONDO:0000775 drug allergy biolink:Disease mondo COHD:439224|DOID:0060500|MESH:D004342 Immunologically mediated adverse reactions to medicinal substances used legally or illegally. DOID:0060500|MESH:D004342 http://purl.obolibrary.org/obo/MONDO_0000775 exposure to drug allergic disease|allergy of exposure to drug MONDO:0009109 lysinuric protein intolerance biolink:Disease mondo DOID:0060439|ICD9:270.8|UMLS:C0268647|OMIM:222700|Orphanet:470|GARD:0001853|MedDRA:10058300|NCIT:C121563|SCTID:303852004|MESH:C562687|ICD10:E72.0|GARD:0003335 Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. http://identifiers.org/omim/222700|UMLS:C0268647|NCIT:C121563|SNOMEDCT:303852004|ORPHA:470|MEDDRA:10058300|DOID:0060439|MESH:C562687 http://purl.obolibrary.org/obo/MONDO_0009109 hyperdibasic aminoaciduria type 2|LPI|lysinuric PROTEIN intolerance; LPI|hyperdibasic aminoaciduria|dibasic aminoaciduria 2|dibasic amino aciduria 2|Dibasicamino aciduria II|lysinuric protein intolerance|dibasic amino aciduria II gard_rare|ordo_disease MONDO:0024746 immature teratoma biolink:Disease mondo ICDO:9080/3|NCIT:C4286 A teratoma composed of immature, fetal-type tissues. NCIT:C4286 http://purl.obolibrary.org/obo/MONDO_0024746 malignant teratoma|teratoma, malignant|immature teratoma MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers biolink:Disease mondo OMIM:618414|Orphanet:544602 ORPHA:544602|http://identifiers.org/omim/618414 http://purl.obolibrary.org/obo/MONDO_0034109 ordo_disease MONDO:0009108 hyperdibasic aminoaciduria type 1 biolink:Disease mondo Orphanet:1032|OMIM:222690|GARD:0001854|UMLS:C2673736|MESH:C567132|ICD10:E72.0 Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported. http://identifiers.org/omim/222690|MESH:C567132|ORPHA:1032|UMLS:C2673736 http://purl.obolibrary.org/obo/MONDO_0009108 dibasic amino aciduria 1|dibasic amino aciduria type 1|dibasic aminoaciduria 1|dibasic amino aciduria I gard_rare|ordo_disease MONDO:0000774 autoimmune neuropathy biolink:Disease mondo DOID:0040087|DOID:0060499 An autoimmune form of peripheral neuropathy. DOID:0060499|DOID:0040087 http://purl.obolibrary.org/obo/MONDO_0000774 autoimmune peripheral neuropathy MONDO:0009107 diastrophic dysplasia biolink:Disease mondo OMIM:222600|GARD:0006275|MESH:C536170|ICD9:756.89|ICD10:Q77.5|DOID:14687|SCTID:58561002|Orphanet:628 Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). http://identifiers.org/omim/222600|MESH:C536170|DOID:14687|ORPHA:628|UMLS:C0220726|SNOMEDCT:58561002 http://purl.obolibrary.org/obo/MONDO_0009107 DTD|DD|diastrophic dysplasia; DTD|diastrophic dysplasia|diastrophic dwarfism|diastrophic dysplasia, Broad bone-Platyspondylic variant ordo_disease MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 biolink:Disease mondo Orphanet:488434|GARD:0010573|MESH:C567455|UMLS:C2677809|OMIM:611929 Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age. http://identifiers.org/omim/611929|ORPHA:488434|MESH:C567455|UMLS:C2677809 http://purl.obolibrary.org/obo/MONDO_0012759 camptodactyly syndrome, Guadalajara, type 3|camptodactyly syndrome Guadalajara type 3|camptodactyly syndrome, Guadalajara, type III ordo_malformation_syndrome HP:0001945 Fever biolink:PhenotypicFeature mondo SNOMEDCT_US:386661006|UMLS:C0015967|MSH:D005334|SNOMEDCT_US:50177009 Elevated body temperature due to failed thermoregulation. http://purl.obolibrary.org/obo/HP_0001945 Pyrexia|Fever|Hyperthermia MONDO:0009106 diastematomyelia biolink:Disease mondo COHD:139132|SCTID:49351009|MedDRA:10012750|Orphanet:1671|ICD9:742.51|NCIT:C98913|ICD10:Q06.2|GARD:0001851|OMIM:222500|UMLS:C0011999 A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. http://identifiers.org/omim/222500|MEDDRA:10012750|ORPHA:1671|UMLS:C0011999|SNOMEDCT:49351009|NCIT:C98913 http://purl.obolibrary.org/obo/MONDO_0009106 SSCM|Pseudodiplomyelia|diplomyelia|SCM type 1|split cord malformation|diastematomyelia|Dimyelia|split spinal cord malformation|split cord malformation type 1 ordo_morphological_anomaly MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome biolink:Disease mondo OMIM:611926|ICD10:D82.8|Orphanet:137631|UMLS:C3150156|SCTID:721977007 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. SNOMEDCT:721977007|http://identifiers.org/omim/611926|ORPHA:137631|UMLS:C3150156 http://purl.obolibrary.org/obo/MONDO_0012757 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis ordo_disease MONDO:0009105 tricho-hepato-enteric syndrome biolink:Disease mondo SCTID:703406006|UMLS:C1857276|GARD:0005258|OMIMPS:222470|Orphanet:84064 Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction. SNOMEDCT:703406006|UMLS:C1857276|ORPHA:84064 http://purl.obolibrary.org/obo/MONDO_0009105 THES1|phenotypic diarrhea|Syndromatic diarrhea|syndromic diarrhea/Tricho-hepato-enteric syndrome|TRICHOHEPATOENTERIC syndrome 1|Trichohepatoenteric syndrome|Tricho-hepato-enteric syndrome|syndromic diarrhea|SD/THE|Trichohepatoenteric syndrome type 1 ordo_disease HP:0001943 Hypoglycemia biolink:PhenotypicFeature mondo UMLS:C0020615|SNOMEDCT_US:237630007|SNOMEDCT_US:302866003|MSH:D007003|SNOMEDCT_US:271327008 A decreased concentration of glucose in the blood. http://purl.obolibrary.org/obo/HP_0001943 Hypoglycaemia|Low blood sugar MONDO:0012758 prostate cancer, hereditary, 13 biolink:Disease mondo MESH:C567456|UMLS:C2677821|OMIM:611928 Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene. http://identifiers.org/omim/611928|MESH:C567456|UMLS:C2677821 http://purl.obolibrary.org/obo/MONDO_0012758 HPC13|MSMB familial prostate cancer|prostate cancer, hereditary, 13|familial prostate cancer caused by mutation in MSMB|prostate cancer, hereditary, 13; HPC13|prostate cancer, hereditary, type 13 MONDO:0009104 Donnai-Barrow syndrome biolink:Disease mondo GARD:0001899|UMLS:C1857277|ICD10:Q87.8|GARD:1899|DOID:0090144|OMIM:222448|Orphanet:2143|MESH:C536390|ICD9:759.89|SCTID:702418009 Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common. SNOMEDCT:702418009|ORPHA:2143|UMLS:C1857277|MESH:C536390|DOID:0090144|http://identifiers.org/omim/222448 http://purl.obolibrary.org/obo/MONDO_0009104 facio-oculo-acoustico-renal syndrome|diaphragmatic hernia-exomphalos-hypertelorism syndrome|Donnai-Barrow syndrome|Holmes-Schepens syndrome|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|syndrome of ocular and facial anomalies, telecanthus and deafness|faciooculoacousticorenal syndrome|DBS/FOAR syndrome|diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria|diaphragmatic hernia-hypertelorism-myopia-deafness syndrome|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria|FOAR syndrome ordo_malformation_syndrome|gard_rare HP:0001944 Dehydration biolink:PhenotypicFeature mondo SNOMEDCT_US:34095006|MSH:D003681|UMLS:C0011175 http://purl.obolibrary.org/obo/HP_0001944 Dehydration|Exsiccosis MONDO:0009103 diaphragmatic hernia 2 biolink:Disease mondo OMIM:222400|MESH:C565629 MESH:C565629|http://identifiers.org/omim/222400 http://purl.obolibrary.org/obo/MONDO_0009103 diaphragmatic hernia 2; DIH2|diaphragmatic hernia 2|DIH2 MONDO:0009102 diaminopentanuria biolink:Disease mondo UMLS:C1857285|MESH:C565630|OMIM:222350 UMLS:C1857285|MESH:C565630|http://identifiers.org/omim/222350 http://purl.obolibrary.org/obo/MONDO_0009102 Diaminopentanuria|cystine-lysinuria MONDO:0009101 Wolfram syndrome 1 biolink:Disease mondo DOID:0110629|OMIM:222300|ICD10:E13.8 Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene. DOID:0110629|http://identifiers.org/omim/222300 http://purl.obolibrary.org/obo/MONDO_0009101 Wolfram syndrome caused by mutation in WFS1|diabetes insipidus and mellitus with optic atrophy and deafness|WOLFRAM syndrome 1; WFS1|WFS1|Wolfram syndrome 1|Wfs|Wolfram syndrome type 1|WFS1 Wolfram syndrome MONDO:0009100 IDDM 1 biolink:Disease mondo OMIM:222100 http://identifiers.org/omim/222100 http://purl.obolibrary.org/obo/MONDO_0009100 diabetes mellitus, type 1|insulin-dependent diabetes mellitus 1|IDDM|diabetes mellitus, insulin-dependent|IDDM1|diabetes mellitus, insulin-dependent, 1|diabetes mellitus, insulin-dependent; IDDM|juvenile-onset diabetes MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 biolink:Disease mondo ICD10:I47.2|NCIT:C148368|DOID:0060676|OMIM:611938|UMLS:C2677794 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene. DOID:0060676|NCIT:C148368|UMLS:C2677794|http://identifiers.org/omim/611938 http://purl.obolibrary.org/obo/MONDO_0012762 ventricular tachycardia, catecholaminergic polymorphic, type 2|CPVT2|ventricular tachycardia, stress-induced polymorphic|CASQ2 catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic, 2; CPVT2|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2|ventricular tachycardia, catecholaminergic polymorphic, 2|catecholaminergic polymorphic ventricular tachycardia type 2|CVPT2 MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome biolink:Disease mondo Orphanet:544628 ORPHA:544628 http://purl.obolibrary.org/obo/MONDO_0034110 ordo_disease HGNC:11786 THBS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11786 MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 biolink:Disease mondo OMIM:611942 Any childhood absence epilepsy in which the cause of the disease is a mutation in the CACNA1H gene. http://identifiers.org/omim/611942 http://purl.obolibrary.org/obo/MONDO_0012763 epilepsy, childhood absence, susceptibility to, 6|epilepsy, childhood absence, susceptibility to, type 6|CACNA1H childhood absence epilepsy|epilepsy, idiopathic generalized, susceptibility to, 6|epilepsy, childhood absence, susceptibility to, 6; ECA6|susceptibility to childhood absence epilepsy 6|childhood absence epilepsy caused by mutation in CACNA1H|ECA6 predisposition MONDO:0010101 Teebi-Shaltout syndrome biolink:Disease mondo GARD:0005125|Orphanet:3291|MESH:C536950|OMIM:272950|UMLS:C1848912 Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. http://identifiers.org/omim/272950|UMLS:C1848912|ORPHA:3291|MESH:C536950 http://purl.obolibrary.org/obo/MONDO_0010101 Teebi-Shaltout syndrome; TBSH|craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage|Teebi-Shaltout syndrome|TBSH|Teebi Shaltout syndrome ordo_malformation_syndrome|gard_rare MONDO:0012760 EIG5 biolink:Disease mondo OMIM:611934 http://identifiers.org/omim/611934 http://purl.obolibrary.org/obo/MONDO_0012760 epilepsy, idiopathic generalized, susceptibility to, 5; EIG5|EIG5|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10|epilepsy, idiopathic generalized, susceptibility to, 5 predisposition HGNC:11784 THBD biolink:OntologyClass mondo http://identifiers.org/hgnc/11784 MONDO:0010100 Tay-Sachs disease biolink:Disease mondo DOID:3320|ICD10:E75.02|UMLS:C0039373|ICD10:E75.0|MedDRA:10043147|NCIT:C85184|MESH:D013661|SCTID:111385000|OMIM:272800|GARD:0007737|Orphanet:845 GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. http://identifiers.org/omim/272800|NCIT:C85184|MEDDRA:10043147|SNOMEDCT:111385000|UMLS:C1848922|UMLS:C0039373|MESH:D013661|DOID:3320|ORPHA:845 http://purl.obolibrary.org/obo/MONDO_0010100 hexosaminidase a deficiency|TSD|Tay-Sachs disease, juvenile|GM2-gangliosidosis, type 1|GM2 gangliosidosis, type 1|GM2-gangliosidosis, variant B1|GM2-gangliosidosis, adult chronic type|hexosaminidase A deficiency|Tay-Sachs disease|Tay-Sachs disease, variant B1|B variant GM2 gangliosidosis|GM2 gangliosidosis, B, B1 variant|B variant GM2-gangliosidosis|disease, Tay-Sachs|Tay-Sachs disease, pseudo-Ab variant|gangliosidosis GM2, type 1|TAY-Sachs disease; TSD|hexosaminidase a deficiency, adult type|sphingolipidosis, Tay-Sachs|hexosaminidase alpha-subunit deficiency (variant B)|hexa deficiency ordo_disease|gard_rare MONDO:0012761 chromosome 3q29 microduplication syndrome biolink:Disease mondo GARD:0010360|DOID:0060459|OMIM:611936|ICD10:Q92.3|Orphanet:251038|UMLS:C2749873|MESH:C567626|SCTID:717973004 3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance. SNOMEDCT:717973004|MESH:C567626|UMLS:C2749873|http://identifiers.org/omim/611936|ORPHA:251038|DOID:0060459 http://purl.obolibrary.org/obo/MONDO_0012761 chromosome 3q29 DUPLICATION syndrome|microduplication 3Q29 syndrome|3q29 microduplication syndrome|3q29 microduplication|trisomy 3q29 gard_rare|ordo_malformation_syndrome HP:0001941 Acidosis biolink:PhenotypicFeature mondo MSH:D000138|SNOMEDCT_US:51387008|UMLS:C0001122 Abnormal acid accumulation or depletion of base. http://purl.obolibrary.org/obo/HP_0001941 MONDO:0012766 hereditary spastic paraplegia 37 biolink:Disease mondo DOID:0110788|OMIM:611945|UMLS:C2936880|ICD10:G11.4|SCTID:763369007|MESH:C567931|Orphanet:171612 Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. DOID:0110788|SNOMEDCT:763369007|ORPHA:171612|UMLS:C2936880|MESH:C567931|http://identifiers.org/omim/611945 http://purl.obolibrary.org/obo/MONDO_0012766 autosomal dominant spastic paraplegia type 37|hereditary spastic paraplegia type 37|SPG37|spastic paraplegia 37, autosomal dominant; SPG37|spastic paraplegia 37, autosomal dominant|autosomal dominant spastic paraplegia 37 ordo_disease MONDO:0010103 teeth, fused biolink:Disease mondo OMIM:273000|SCTID:1744008 SNOMEDCT:1744008|http://identifiers.org/omim/273000 http://purl.obolibrary.org/obo/MONDO_0010103 teeth, fused MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome biolink:Disease mondo OMIM:272980|UMLS:C1848909|MESH:C536945|Orphanet:2731|GARD:0005118 This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. http://identifiers.org/omim/272980|UMLS:C1848909|ORPHA:2731|MESH:C536945 http://purl.obolibrary.org/obo/MONDO_0010102 teeth, congenital absence of, with taurodontia and sparse hair|taurodontia, absent teeth, and sparse hair|taurodontia, absent teeth, sparse hair syndrome ordo_malformation_syndrome|gard_rare HP:0001942 Metabolic acidosis biolink:PhenotypicFeature mondo MSH:D000138|SNOMEDCT_US:59455009|UMLS:C0220981 Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. http://purl.obolibrary.org/obo/HP_0001942 MONDO:0012767 age related macular degeneration 11 biolink:Disease mondo MESH:C567450|DOID:0110023|UMLS:C2677774|OMIM:611953 Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene. UMLS:C2677774|MESH:C567450|DOID:0110023|http://identifiers.org/omim/611953 http://purl.obolibrary.org/obo/MONDO_0012767 macular degeneration, age-related, 11; ARMD11|ARMD11|age related macular degeneration type 11|macular degeneration, age-related, 11|macular Degeneration, age-related, type 11|CST3 age-related macular degeneration|age-related macular degeneration caused by mutation in CST3 MONDO:0012764 RIDDLE syndrome biolink:Disease mondo MESH:C567453|EFO:0009055|Orphanet:420741|DOID:0090113|UMLS:C2677792|ICD10:D82.8|OMIM:611943 An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. ORPHA:420741|MESH:C567453|UMLS:C2677792|http://identifiers.org/omim/611943|DOID:0090113 http://purl.obolibrary.org/obo/MONDO_0012764 radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties|RIDDLE syndrome|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|RNF168 deficiency ordo_malformation_syndrome MONDO:0036779 axillary neoplasm biolink:Disease mondo UMLS:C1290308|SCTID:126639006|NCIT:C35749 A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes. UMLS:C1290308|NCIT:C35749|SNOMEDCT:126639006 http://purl.obolibrary.org/obo/MONDO_0036779 axillary neoplasm|neoplasm of axilla|axilla tumor|tumor of axilla|axilla neoplasm MONDO:0010105 teratoma, pineal biolink:Disease mondo MESH:C537401|UMLS:C1848902|OMIM:273120 UMLS:C1848902|http://identifiers.org/omim/273120|MESH:C537401 http://purl.obolibrary.org/obo/MONDO_0010105 teratoma, pineal MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome biolink:Disease mondo SCTID:723442008|GARD:0005127|GARD:0005027|Orphanet:2972|OMIM:273050|UMLS:C1848903 Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. MESH:C536952|UMLS:C2931509|UMLS:C1848903|MESH:C537496|http://identifiers.org/omim/273050|ORPHA:2972|SNOMEDCT:723442008 http://purl.obolibrary.org/obo/MONDO_0010104 teeth noneruption of with maxillary hypoplasia and genu valgum|multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|Stoelinga de Koomen Davis syndrome|non erupted teeth with maxillary hypoplasia and genu valgum|multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|teeth, noneruption of, with maxillary hypoplasia and genu valgum|Stoelinga-de Koomen-Davis syndrome ordo_malformation_syndrome|gard_rare MONDO:0012765 lymphedema, hereditary, 1B biolink:Disease mondo MESH:C567452|OMIM:611944|UMLS:C2677787|DOID:0070211 DOID:0070211|MESH:C567452|UMLS:C2677787|http://identifiers.org/omim/611944 http://purl.obolibrary.org/obo/MONDO_0012765 LMPH1B|lymphedema, hereditary, IB|lymphedema, hereditary, IB; LMPH1B MONDO:0000769 chicken egg allergy biolink:Disease mondo DOID:0060492 An egg allergy triggered by Gallus gallus eggs. DOID:0060492 http://purl.obolibrary.org/obo/MONDO_0000769 Gallus gallus egg allergy MONDO:0000768 obsolete Zika fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000768 MONDO:0000767 obsolete nut midline carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000767 HGNC:11782 TH biolink:OntologyClass mondo http://identifiers.org/hgnc/11782 HGNC:11781 TGM5 biolink:OntologyClass mondo http://identifiers.org/hgnc/11781 GO:0099118 microtubule-based protein transport biolink:OntologyClass mondo A microtubule-based process that results in the transport of proteins. http://purl.obolibrary.org/obo/GO_0099118 MONDO:0000784 melon allergy biolink:Disease mondo DOID:0060509 A fruit allergy triggered by Cucumis melo plant fruit food product. DOID:0060509 http://purl.obolibrary.org/obo/MONDO_0000784 Cucumis melo fruit allergy MONDO:0000783 orange allery biolink:Disease mondo DOID:0060508 A fruit allergy triggered by Citrus sinensis plant fruit food product. DOID:0060508 http://purl.obolibrary.org/obo/MONDO_0000783 Citrus sinensis fruit allergy|orange allergy MONDO:0000782 Indian plum allergy biolink:Disease mondo DOID:0060507 A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. DOID:0060507 http://purl.obolibrary.org/obo/MONDO_0000782 Ziziphus mauritiana fruit allergy GO:0099124 axonal dopamine secretion biolink:OntologyClass mondo The regulated release of dopamine from an axon. http://purl.obolibrary.org/obo/GO_0099124 axonal dopamine release|axonal DA release MONDO:0000781 cherry allergy biolink:Disease mondo DOID:0060506 A fruit allergy triggered by Prunus avium plant fruit food product. DOID:0060506 http://purl.obolibrary.org/obo/MONDO_0000781 Prunus avium fruit allergy MONDO:0000788 fish allergy biolink:Disease mondo DOID:0060513 A allergy involving fish. DOID:0060513 http://purl.obolibrary.org/obo/MONDO_0000788 fish food product allergic disease|allergy of fish food product MONDO:0000787 tomato allergy biolink:Disease mondo DOID:0060512 A allergy involving a Solanum lycopersicum. DOID:0060512 http://purl.obolibrary.org/obo/MONDO_0000787 Solanum lycopersicum fruit allergy|Solanum lycopersicum allergic disease|allergy of Solanum lycopersicum|Solanum lycopersicum caused allergic disease MONDO:0000786 plum allergy biolink:Disease mondo DOID:0060511 A allergy involving a Prunus domestica. DOID:0060511 http://purl.obolibrary.org/obo/MONDO_0000786 Prunus domestica fruit allergy|Prunus domestica allergic disease|allergy of Prunus domestica|Prunus domestica caused allergic disease MONDO:0000785 peach allergy biolink:Disease mondo DOID:0060510 A allergy involving a Prunus persica. DOID:0060510 http://purl.obolibrary.org/obo/MONDO_0000785 Prunus persica fruit allergy|Prunus persica allergic disease|allergy of Prunus persica|Prunus persica caused allergic disease MONDO:0009119 diverticulosis, small-intestinal biolink:Disease mondo OMIM:223320|MESH:C565620|UMLS:C1857228 UMLS:C1857228|MESH:C565620|http://identifiers.org/omim/223320 http://purl.obolibrary.org/obo/MONDO_0009119 diverticulosis, small-intestinal MONDO:0012748 primary ciliary dyskinesia 7 biolink:Disease mondo DOID:0110605|ICD10:Q34.8|OMIM:611884|MESH:C567504|UMLS:C2678473 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene. http://identifiers.org/omim/611884|DOID:0110605|UMLS:C2678473|MESH:C567504 http://purl.obolibrary.org/obo/MONDO_0012748 ciliary dyskinesia, primary, type 7|DNAH11 primary ciliary dyskinesia|ciliary dyskinesia, primary, 7|primary ciliary dyskinesia type 7|primary ciliary dyskinesia caused by mutation in DNAH11|primary ciliary dyskinesia 7 with or without situs inversus|ciliary dyskinesia, primary, 7, with or without situs inversus|ciliary dyskinesia, primary, 7; CILD7|CILD7 MONDO:0009118 disseminated sclerosis with narcolepsy biolink:Disease mondo OMIM:223300|MESH:C565621|UMLS:C1857229 UMLS:C1857229|MESH:C565621|http://identifiers.org/omim/223300 http://purl.obolibrary.org/obo/MONDO_0009118 disseminated sclerosis with narcolepsy MONDO:0012749 mesomelic dysplasia, camera type biolink:Disease mondo MESH:C567503|OMIM:611886|UMLS:C2678472 http://identifiers.org/omim/611886|UMLS:C2678472|MESH:C567503 http://purl.obolibrary.org/obo/MONDO_0012749 mesomelic dysplasia, camera type MONDO:0009117 obsolete disorganization, mouse, homolog of biolink:Disease mondo OMIM:223200|UMLS:C1857230 UMLS:C1857230|http://identifiers.org/omim/223200 http://purl.obolibrary.org/obo/MONDO_0009117 disorganization, mouse, homolog OF|Ds MONDO:0009116 lactose intolerance (disease) biolink:Disease mondo DOID:10604|UMLS:C0022951|ICD9:271.3|COHD:4143342|HP:0004789|ICD10:E73|EFO:1000062|SCTID:267425008|OMIM:223100|ICD10:E73.9|NCIT:C3154 Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose. http://identifiers.org/omim/223100|UMLS:C0022951|SNOMEDCT:267425008|NCIT:C3154|DOID:10604 http://purl.obolibrary.org/obo/MONDO_0009116 adult lactase deficiency|lactase persistence|lactose intolerance, ADULT type|lactose intolerance|hypolactasia, adult type|LM - lactose malabsorption|disaccharide intolerance 3 MONDO:0012746 dilated cardiomyopathy 2A biolink:Disease mondo UMLS:C2678474|OMIM:611880|DOID:0110460|ICD10:I42.0 A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13. http://identifiers.org/omim/611880|DOID:0110460|UMLS:C2678474 http://purl.obolibrary.org/obo/MONDO_0012746 cardiomyopathy, dilated, 2A; CMD2A|dilated cardiomyopathy type 2A|cardiomyopathy, dilated, type 2A|cardiomyopathy, dilated, autosomal recessive|cardiomyopathy, dilated, 2A|cardiomyopathy, congestive, autosomal recessive|CMD2A MONDO:0012747 glycogen storage disease due to aldolase A deficiency biolink:Disease mondo ICD9:282.3|GARD:0000600|UMLS:C0272066|SCTID:111578003|MESH:C562718|Orphanet:57|ICD10:E74.0|OMIM:611881 Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported. http://identifiers.org/omim/611881|ORPHA:57|UMLS:C0272066|MESH:C562718|SNOMEDCT:111578003 http://purl.obolibrary.org/obo/MONDO_0012747 glycogenosis due to aldolase A deficiency|glycogenosis type XII|glycogen storage disease XII; GSD12|GSD12|GSD type 12|aldolase deficiency, Red cell|aldolase deficiency red cell|glycogen storage disease type 12|glycogen storage disease type XII|Aldoa deficiency|GSD type XII|Red cell aldolase deficiency|GSD due to aldolase A deficiency|glycogen storage disease 12|aldolase a deficiency|glycogen storage disease XII|GSD 12|glycogenosis type 12 ordo_disease MONDO:0009115 congenital lactase deficiency biolink:Disease mondo OMIM:223000|ICD9:271.3|Orphanet:53690|GARD:0012311|SCTID:5388008|ICD10:E73.0|MESH:C562600 Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. SNOMEDCT:5388008|ORPHA:53690|http://identifiers.org/omim/223000|MESH:C562600|UMLS:C0268179 http://purl.obolibrary.org/obo/MONDO_0009115 Alactasia, congenital|lactase deficiency, congenital|disaccharide intolerance 2 gard_rare|ordo_disease MONDO:0000780 apricot allergy biolink:Disease mondo DOID:0060505 A allergy involving a Prunus armeniaca. DOID:0060505 http://purl.obolibrary.org/obo/MONDO_0000780 Prunus armeniaca caused allergic disease|allergy of Prunus armeniaca|Prunus armeniaca fruit allergy|Prunus armeniaca allergic disease MONDO:0009114 congenital sucrase-isomaltase deficiency biolink:Disease mondo MedDRA:10066387|GARD:0006183|MESH:C538139|OMIM:222900|SCTID:78373000|ICD9:271.3|GARD:0007710|ICD10:E74.3|Orphanet:35122|UMLS:C1283620|NCIT:C128190 A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose. UMLS:C1283620|NCIT:C128190|SNOMEDCT:78373000|ORPHA:35122|MESH:C538139|MEDDRA:10066387|http://identifiers.org/omim/222900 http://purl.obolibrary.org/obo/MONDO_0009114 sucrase-isomaltase deficiency, congenital; CSID|sucrase-alpha-dextrinase deficiency|congenital sucrose intolerance|disaccharide intolerance|SI deficiency|disaccharide intolerance i|congenital sucrose-isomaltase malabsorption|sucrose isomaltose enzyme deficiency|congenital sucrose-isomaltase intolerance|sucrose intolerance, congenital|genetic sucrase-isomaltose malabsorption|disaccharide intolerance, 1|sucrase-isomaltase deficiency|sucrase-isomaltase deficiency, congenital|disaccharide intolerance 1|intestinal sucrase-a-dextrinase deficiency|sucrose-isomaltose malabsorption, congenital|sucrose-isomaltase malabsorption, congenital|sucrose intolerance congenital|invertase deficiency|congenital sucrose malabsorption|CSID|congenital sucrase-isomaltose malabsorption ordo_disease|gard_rare MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency biolink:Disease mondo GARD:0001874|NCIT:C131638|OMIM:222800|ICD10:D55.2|UMLS:C1291620|Orphanet:714 A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. ORPHA:714|NCIT:C131638|UMLS:C1291620|http://identifiers.org/omim/222800 http://purl.obolibrary.org/obo/MONDO_0009113 bisphosphoglyceromutase deficiency|diphosphoglycerate phosphatase deficiency|bisphosphoglycerate mutase deficiency|diphosphoglycerate mutase deficiency of erythrocyte|DPGM deficiency|BPGM deficiency ordo_disease MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 biolink:Disease mondo Orphanet:309796|GARD:0009429|DOID:0110852|OMIM:222765|UMLS:C1857242|ICD10:Q77.3|MESH:C537607 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. MESH:C537607|DOID:0110852|ORPHA:309796|http://identifiers.org/omim/222765|UMLS:C1857242 http://purl.obolibrary.org/obo/MONDO_0009112 Dihydroxyacetonephosphate acyltransferase deficiency|Glyceronephosphate O-acyltransferase deficiency|chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate|type 2 rhizomelic chondrodysplasia punctata|chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata, type 2|rhizomelic chondrodysplasia punctata, type 2; RCDP2|Gnpat deficiency|peroxisomal Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata caused by mutation in GNPAT|Rcdp2|Dhapat deficiency|GNPAT rhizomelic chondrodysplasia punctata|RCDP2 gard_rare|ordo_etiological_subtype HP:0001959 Polydipsia biolink:PhenotypicFeature mondo MSH:D059606|UMLS:C0085602|SNOMEDCT_US:267026004|SNOMEDCT_US:17173007 Excessive thirst manifested by excessive fluid intake. http://purl.obolibrary.org/obo/HP_0001959 Extreme thirst MONDO:0009111 dihydropyrimidinuria biolink:Disease mondo OMIM:222748|GARD:0012347|ICD10:E79.8|ICD9:277.2|Orphanet:38874|SCTID:238014002 Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. SNOMEDCT:238014002|ORPHA:38874|http://identifiers.org/omim/222748 http://purl.obolibrary.org/obo/MONDO_0009111 DPYSD|Dpys deficiency|dihydropyrimidinase deficiency; DPYSD|Dph deficiency|dihydropyrimidinuria|dihydropyrimidinase deficiency ordo_disease MONDO:0012751 AAA3 biolink:Disease mondo OMIM:611891|UMLS:C2678470|MESH:C567501 UMLS:C2678470|MESH:C567501|http://identifiers.org/omim/611891 http://purl.obolibrary.org/obo/MONDO_0012751 aortic aneurysm, familial abdominal, 3|AAA3|aortic aneurysm, familial abdominal, 3; AAA3 MONDO:0009110 dicarboxylic aminoaciduria biolink:Disease mondo DOID:0060650|ICD10:E72.0|OMIM:222730|MESH:C536171|SCTID:716747007|GARD:0001855|UMLS:C1857253|Orphanet:2195 Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. MESH:C536171|DOID:0060650|SNOMEDCT:716747007|http://identifiers.org/omim/222730|ORPHA:2195|UMLS:C1857253 http://purl.obolibrary.org/obo/MONDO_0009110 dicarboxylic aminoaciduria; DCBXA|Dicarboxylicaminoaciduria|dicarboxylic aminoaciduria|glutamate-aspartate Transport defect|DCBXA|glutamate-aspartate transport defect gard_rare|ordo_disease MONDO:0034121 NAD(P)HX dehydratase deficiency biolink:Disease mondo OMIM:618321|Orphanet:555402 ORPHA:555402|http://identifiers.org/omim/618321 http://purl.obolibrary.org/obo/MONDO_0034121 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2; PEBEL2 ordo_disease HGNC:11796 THRA biolink:OntologyClass mondo http://identifiers.org/hgnc/11796 MONDO:0012752 ANIB6 biolink:Disease mondo OMIM:611892|UMLS:C2678469|MESH:C567500 UMLS:C2678469|MESH:C567500|http://identifiers.org/omim/611892 http://purl.obolibrary.org/obo/MONDO_0012752 ANIB6|aneurysm, intracranial BERRY, 6; ANIB6|aneurysm, intracranial BERRY, 6 HGNC:11795 THPO biolink:OntologyClass mondo http://identifiers.org/hgnc/11795 MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome biolink:Disease mondo Orphanet:53696|SCTID:715565004|UMLS:C2678471|MESH:C567502|OMIM:611890 ORPHA:53696|SNOMEDCT:715565004|UMLS:C2678471|MESH:C567502|http://identifiers.org/omim/611890 http://purl.obolibrary.org/obo/MONDO_0012750 lethal arthrogryposis with anterior horn cell disease; LAAHD|LAAHD|Vuopala disease|lethal arthrogryposis with anterior horn cell disease ordo_malformation_syndrome MONDO:0012755 episodic ataxia type 7 biolink:Disease mondo ICD10:G11.8|UMLS:C2677843|OMIM:611907|Orphanet:209970|MESH:C567459|SCTID:718752007|DOID:0050995 Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings. http://identifiers.org/omim/611907|DOID:0050995|SNOMEDCT:718752007|MESH:C567459|UMLS:C2677843|ORPHA:209970 http://purl.obolibrary.org/obo/MONDO_0012755 episodic ataxia, type 7; EA7|episodic ataxia, type 7|EA7 ordo_disease HP:0001952 Glucose intolerance biolink:PhenotypicFeature mondo UMLS:C0235401 Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). http://purl.obolibrary.org/obo/HP_0001952 Glucose intolerance|Abnormal glucose tolerance MONDO:0012756 proximal 16p11.2 microdeletion syndrome biolink:Disease mondo UMLS:CN202166|MESH:C579850|SCTID:718227006|ICD10:Q93.5|SCTID:699307007|Orphanet:261197|NCIT:C120408|GARD:0010740|OMIM:611913|ICD9:758.39 The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. SNOMEDCT:718227006|http://identifiers.org/omim/611913|SNOMEDCT:699307007|ORPHA:261197|UMLS:CN202166|NCIT:C120408|MESH:C579850 http://purl.obolibrary.org/obo/MONDO_0012756 Del(16)(p11.2)|proximal monosomy 16p11.2|16p11.2 deletion syndrome|microdeletion 16p11.2|proximal del(16)(p11.2)|chromosome 16p11.2 deletion syndrome, 593-KB|chromosome 16p11.2 deletion syndrome|monosomy 16p11.2|autism, susceptibility to, 14A ordo_malformation_syndrome|gard_rare|predisposition HGNC:11799 THRB biolink:OntologyClass mondo http://identifiers.org/hgnc/11799 MONDO:0012753 amyotrophic lateral sclerosis type 9 biolink:Disease mondo UMLS:C2678468|OMIM:611895|GARD:0010498|MESH:C567499|DOID:0060200 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene. DOID:0060200|UMLS:C2678468|MESH:C567499|http://identifiers.org/omim/611895 http://purl.obolibrary.org/obo/MONDO_0012753 amyotrophic lateral sclerosis 9|ALS9|ANG amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 9; ALS9|amyotrophic lateral sclerosis type 9|amyotrophic lateral sclerosis caused by mutation in ANG gard_rare MONDO:0012754 NNO3 biolink:Disease mondo MESH:C567498|UMLS:C2678467|OMIM:611897 UMLS:C2678467|MESH:C567498|http://identifiers.org/omim/611897 http://purl.obolibrary.org/obo/MONDO_0012754 nanophthalmos 3|nanophthalmos 3; NNO3|Nanophthalmia 3|NNO3 MONDO:0034127 IgA pemphigus biolink:Disease mondo Orphanet:555905 ORPHA:555905 http://purl.obolibrary.org/obo/MONDO_0034127 ordo_disease MONDO:0000779 apple allergy biolink:Disease mondo DOID:0060504 A allergy involving a Malus domestica. DOID:0060504 http://purl.obolibrary.org/obo/MONDO_0000779 Malus domestica caused allergic disease|allergy of Malus domestica|Malus domestica allergic disease|Malus domestica fruit allergy MONDO:0000778 fruit allergy biolink:Disease mondo DOID:0060503 A food allergy triggered by a plant fruit product. DOID:0060503 http://purl.obolibrary.org/obo/MONDO_0000778 UBERON:0008397 tracheobronchial epithelium biolink:AnatomicalEntity mondo Epithelium pertaining to the trachea and bronchi. http://purl.obolibrary.org/obo/UBERON_0008397 bronchotracheal epithelium MONDO:0036781 benign axillary neoplasm biolink:Disease mondo NCIT:C35750|UMLS:C0684828 A non-metastasizing neoplasm that arises from the structures of the axilla. NCIT:C35750|UMLS:C0684828 http://purl.obolibrary.org/obo/MONDO_0036781 benign axillary neoplasm|axillary neoplasm, benign HGNC:11791 TCHH biolink:OntologyClass mondo http://identifiers.org/hgnc/11791 MONDO:0034122 obsolete NAD(P)HX epimerase deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0034122 MONDO:0022145 obsolete Chiari malformation type II biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022145 GO:0099177 regulation of trans-synaptic signaling biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of trans-synaptic signaling. http://purl.obolibrary.org/obo/GO_0099177 GO:0099171 presynaptic modulation of chemical synaptic transmission biolink:OntologyClass mondo Any process, acting in the presynapse that results in modulation of chemical synaptic transmission. http://purl.obolibrary.org/obo/GO_0099171 HGNC:11758 TFG biolink:OntologyClass mondo http://identifiers.org/hgnc/11758 MONDO:0009169 endocardial fibroelastosis biolink:Disease mondo ICD10:I42.4|OMIM:226000|Orphanet:2022|UMLS:C0014117|NCIT:C98922|MESH:D004695|EFO:0007251|MedDRA:10014663|COHD:314370|DOID:12929|SCTID:65457005|ICD9:425.3|GARD:0006336 Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia. NCIT:C98922|DOID:12929|MEDDRA:10014663|MESH:D004695|ORPHA:2022|UMLS:C0014117|http://identifiers.org/omim/226000|SNOMEDCT:65457005 http://purl.obolibrary.org/obo/MONDO_0009169 endocardial fibroelastosis|EFE|endomyocardial fibroelastosis|Elastomyofibrosis|endocardial fibroelastosis; EFE ordo_disease|gard_rare MONDO:0009168 Fowler syndrome biolink:Disease mondo MESH:C565593|SCTID:700242002|MedDRA:10071718|ICD9:596.59|OMIM:225790|Orphanet:221126 http://identifiers.org/omim/225790|ORPHA:221126|SNOMEDCT:700242002|UMLS:C3203738|MEDDRA:10071718|MESH:C565593 http://purl.obolibrary.org/obo/MONDO_0009168 PVHH|proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome; PVHH|hydranencephaly, fowler type|proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome|cerebral proliferative glomeruloid vasculopathy|hydrocephaly/hydranencephaly due to cerebral vasculopathy|Encephaloclastic proliferative vasculopathy|proliferative vasculopathy and hydranencephaly/hydrocephaly ordo_malformation_syndrome MONDO:0022140 Charles bonnet syndrome biolink:Disease mondo GARD:0010343|SCTID:193756007|UMLS:C0339731 Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized. UMLS:C0339731|SNOMEDCT:193756007 http://purl.obolibrary.org/obo/MONDO_0022140 CBS|charles bonnet syndrome gard_rare GO:0099170 postsynaptic modulation of chemical synaptic transmission biolink:OntologyClass mondo Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission. http://purl.obolibrary.org/obo/GO_0099170 MONDO:0009167 Bonnemann-Meinecke-Reich syndrome biolink:Disease mondo UMLS:C1856973|OMIM:225755|ICD10:Q04.8|SCTID:733049004|Orphanet:1261|GARD:0002113|MESH:C565594 Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. http://identifiers.org/omim/225755|SNOMEDCT:733049004|ORPHA:1261|MESH:C565594|UMLS:C1856973 http://purl.obolibrary.org/obo/MONDO_0009167 Bonnemann Meinecke Reich syndrome|encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration|encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration|encephalopathy-intracerebral calcification-retinal degeneration syndrome gard_rare|ordo_malformation_syndrome MONDO:0009166 pontocerebellar hypoplasia type 4 biolink:Disease mondo DOID:0060273|UMLS:C1856974|Orphanet:166063|MESH:C536716|SCTID:718608006|OMIM:225753|ICD10:Q04.3|GARD:0000343 Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. ORPHA:166063|SNOMEDCT:718608006|MESH:C536716|UMLS:C1856974|DOID:0060273|http://identifiers.org/omim/225753 http://purl.obolibrary.org/obo/MONDO_0009166 PCH4|pontocerebellar hypoplasia, type 4|encephalopathy fatal infantile with olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia|pontocerebellar hypoplasia, type 4; PCH4|fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia ordo_malformation_syndrome|gard_rare MONDO:0009165 Aicardi-Goutieres syndrome 1 biolink:Disease mondo UMLS:C0796126|OMIM:225750|GARD:0010893 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene. UMLS:C0796126|http://identifiers.org/omim/225750 http://purl.obolibrary.org/obo/MONDO_0009165 Aicardi-Goutieres syndrome 1|Aicardi-Goutieres syndrome caused by mutation in TREX1|Ags|Aicardi-Goutieres syndrome 1; AGS1|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|Aicardi-Goutieres syndrome 1, autosomal dominant|Cree encephalitis|Pseudotoxoplasmosis syndrome|TREX1 Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 1|AGS1 MONDO:0010165 ulna hypoplasia-intellectual disability syndrome biolink:Disease mondo UMLS:C2931370|OMIM:276821|UMLS:C1848650|GARD:0005398|MESH:C564757|ICD10:Q87.2|Orphanet:2249 Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. MESH:C536934|MESH:C564757|UMLS:C2931370|UMLS:C1848650|ORPHA:2249|http://identifiers.org/omim/276821 http://purl.obolibrary.org/obo/MONDO_0010165 mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation|bilateral ulnar hypoplasia and intellectual disability|bilateral ulnar hypoplasia and mental retardation|mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability|ulnar hypoplasia with mental retardation|ulna hypoplasia with mental retardation|mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability|mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation|ulna hypoplasia with intellectual disability|ulnar hypoplasia with intellectual disability ordo_malformation_syndrome HGNC:11764 TG biolink:OntologyClass mondo http://identifiers.org/hgnc/11764 MONDO:0010164 phocomelia, Schinzel type biolink:Disease mondo MESH:C535612|ICD10:Q87.2|GARD:0009212|GARD:0005124|OMIM:276820|Orphanet:2879|SCTID:715522000 Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder. ORPHA:2879|MESH:C535612|SNOMEDCT:715522000|http://identifiers.org/omim/276820 http://purl.obolibrary.org/obo/MONDO_0010164 Teebi Naguib Al Awadi syndrome|severe limb deficit|aplasia/hypoplasia of limbs and pelvis|profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence|Al-Awadi/Raas-Rothschild syndrome|limb/pelvis-hypoplasia/aplasia syndrome|Schinzel phocomelia syndrome|Al-Awadi-Raas-Rothschild syndrome|Al Awadi Teebi Farag syndrome|absence of ulna and fibula with severe limb deficiency|ulna and fibula, absence of, with severe limb deficiency|Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome|congenital absence of ulna and fibula|ulna and fibula absence of with severe limb deficiency|Al Awadi-Raas-Rothschild syndrome|AARRS gard_rare|ordo_malformation_syndrome HGNC:11763 TFRC biolink:OntologyClass mondo http://identifiers.org/hgnc/11763 MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts biolink:Disease mondo OMIM:225740|UMLS:C1856990|MESH:C565596 UMLS:C1856990|MESH:C565596|http://identifiers.org/omim/225740 http://purl.obolibrary.org/obo/MONDO_0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts|Lyon syndrome MONDO:0010167 urocanic aciduria (disease) biolink:Disease mondo UMLS:C0268514|SCTID:60952007|MESH:C536479|GARD:0008539|HP:0012237|Orphanet:210128|ICD10:E70.8|OMIM:276880 Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date. http://identifiers.org/omim/276880|MESH:C536479|ORPHA:210128|SNOMEDCT:60952007|UMLS:C0268514 http://purl.obolibrary.org/obo/MONDO_0010167 urocanic aciduria|urocanase deficiency; UROCD|UROCD|encephalopathy due to urocanase deficiency|urocanase deficiency ordo_disease MONDO:0009163 encephalomalacia, multilocular biolink:Disease mondo OMIM:225700|MESH:C565597|UMLS:C1856991 UMLS:C1856991|MESH:C565597|http://identifiers.org/omim/225700 http://purl.obolibrary.org/obo/MONDO_0009163 encephalomalacia, multilocular HGNC:11762 TFR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11762 MONDO:0009162 Ellis-van Creveld syndrome biolink:Disease mondo UMLS:C0013903|OMIM:225500|SCTID:62501005|ICD9:756.55|Orphanet:289|MedDRA:10008724|GARD:0001301|DOID:12714|ICD10:Q77.6|UMLS:CN239258|NCIT:C84684|MESH:D004613 Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. NCIT:C84684|MESH:D004613|SNOMEDCT:62501005|UMLS:CN239258|MEDDRA:10008724|ORPHA:289|UMLS:C0013903|http://identifiers.org/omim/225500|DOID:12714 http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome|Chondroectodermal dysplasia|Ellis-VAN Creveld syndrome; EVC|mesodermic dysplasia|Ellis Van Creveld syndrome|Mesoectodermal dysplasia|EVC gard_rare|ordo_malformation_syndrome MONDO:0010166 ulnar agenesis and endocardial fibroelastosis biolink:Disease mondo UMLS:C1848649|OMIM:276822|MESH:C564756 MESH:C564756|UMLS:C1848649|http://identifiers.org/omim/276822 http://purl.obolibrary.org/obo/MONDO_0010166 ulnar agenesis and endocardial fibroelastosis MONDO:0010169 Usher syndrome type 2A biolink:Disease mondo MESH:C536490|OMIM:276901|DOID:0110838|UMLS:C1848634|ICD10:H35.5|GARD:0005440 Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene. http://identifiers.org/omim/276901|MESH:C536490|DOID:0110838|UMLS:C1848634 http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome, type 2A|USHER syndrome, type IIA|USH2A|USH2A Usher syndrome|Usher syndrome caused by mutation in USH2A|Usher syndrome type IIA|USHER syndrome, type IIA; USH2A|US2 MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type biolink:Disease mondo SCTID:55711009|GARD:0002089|ICD10:Q79.6|OMIM:225410|MESH:C567527|Orphanet:1901 A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility. SNOMEDCT:55711009|UMLS:C2700425|MESH:C567527|ORPHA:1901|http://identifiers.org/omim/225410 http://purl.obolibrary.org/obo/MONDO_0009161 dermatosparaxis|Ehlers-Danlos syndrome, dermatosparaxis type; EDSDERMS|EDS VIIC|EDS 7C|dermatosparaxis EDS|dermatosparaxis Ehlers-Danlos syndrome|EDSDERMS|Ehlers-Danlos syndrome, dermatosparaxis type|Ehlers-Danlos syndrome, type VII, autosomal recessive|dEDS|Ehlers-Danlos syndrome type 7C (formerly)|EDS7C|Ehlers-Danlos syndrome type 7C ordo_disease NCBITaxon:640628 Poinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_640628 HGNC:11768 TGFB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11768 MONDO:0010168 Usher syndrome type 1 biolink:Disease mondo GARD:0005435|DOID:0110826|SCTID:232057003|Orphanet:231169|GARD:0005436|ICD10:H35.5|OMIM:276900|NCIT:C126327 A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa. http://identifiers.org/omim/276900|UMLS:C0339533|NCIT:C126327|DOID:0110826|SNOMEDCT:232057003|ORPHA:231169 http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome, type I, French variety|USH1|retinitis pigmentosa and congenital deafness|USH1A|Usher syndrome, type 1|Usher syndrome, type 1A|US1|Usher syndrome, type Ia, formerly|Usher syndrome, type Ia|USHER syndrome, type I; USH1|USHER syndrome, type I|Usher syndrome, type I, French variety, formerly|Usher syndrome, type 1B clingen|ordo_clinical_subtype|gard_rare MONDO:0009160 obsolete Ehlers-Danlos syndrome, type 6 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009160 HGNC:11766 TGFB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11766 HP:0011339 Abnormality of upper lip vermillion biolink:PhenotypicFeature mondo UMLS:C4023406 An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. http://purl.obolibrary.org/obo/HP_0011339 Anomaly of the upper lip vermillion|Abnormality of the red part of the upper lip|Deformity of the upper lip vermillion|Malformation of the upper lip vermillion MONDO:0010161 tyrosinemia type I biolink:Disease mondo MedDRA:10069462|Orphanet:882|ICD10:E70.2|UMLS:C0268490|SCTID:410056006|DOID:0050726|NCIT:C98641|OMIM:276700|GARD:0002658 Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. SNOMEDCT:410056006|DOID:0050726|ORPHA:882|NCIT:C98641|MEDDRA:10069462|UMLS:C0268490|http://identifiers.org/omim/276700 http://purl.obolibrary.org/obo/MONDO_0010161 type I tyrosinemia|fumarylacetoacetate hydrolase deficiency|tyrosinemia type I|FAH deficiency|hepatorenal tyrosinemia|fumarylacetoacetase deficiency|Fah deficiency|tyrosinemia, type I; TYRSN1|TYRSN1|tyrosinemia type 1|tyrosinemia, type I|tyrosinemia, type 1 gard_rare|ordo_disease MONDO:0010160 tyrosinemia type II biolink:Disease mondo GARD:0003105|MedDRA:10069463|SCTID:4887000|NCIT:C129032|Orphanet:28378|DOID:0050725|ICD10:E70.2|OMIM:276600 Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. SNOMEDCT:4887000|DOID:0050725|MEDDRA:10069463|http://identifiers.org/omim/276600|NCIT:C129032|ORPHA:28378 http://purl.obolibrary.org/obo/MONDO_0010160 keratosis palmoplantaris-corneal dystrophy syndrome|Tyrosinosis, oculocutaneous type|Richner-Hanhart syndrome|tyrosine transaminase deficiency|tyrosinemia type 2|tyrosine aminotransferase deficiency|Oregon type tyrosinemia|keratosis palmoplantaris with corneal dystrophy|tyrosinemia, type II; TYRSN2|Richner Hanhart syndrome|tyrosinemia due to TAT deficiency|TYRSN2|tyrosinemia, type II|tyrosinemia, type 2|tyrosinemia due to tyrosine aminotransferase deficiency|oculocutaneous tyrosinemia|Tyrosinosis oculocutaneous type|tyrosinemia type II|Tat deficiency gard_rare|ordo_disease MONDO:0010163 Tyrosinosis biolink:Disease mondo ICD9:270.2|UMLS:C0268484|OMIM:276800|MESH:C562659|SCTID:57414003 SNOMEDCT:57414003|MESH:C562659|UMLS:C0268484|http://identifiers.org/omim/276800 http://purl.obolibrary.org/obo/MONDO_0010163 Tyrosinosis MONDO:0010162 tyrosinemia type III biolink:Disease mondo ICD9:270.2|Orphanet:69723|GARD:0010332|MedDRA:10069461|ICD10:E70.2|SCTID:415764005|DOID:0050727|OMIM:276710|UMLS:C0268623 Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. ORPHA:69723|DOID:0050727|MEDDRA:10069461|SNOMEDCT:415764005|UMLS:C0268623|http://identifiers.org/omim/276710 http://purl.obolibrary.org/obo/MONDO_0010162 4-alpha hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia type 3|4-alpha hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia type III|tyrosinemia, type III; TYRSN3|tyrosinemia due to HPD deficiency|TYRSN3|tyrosinemia, type III|4-Hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia, type 3|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|4-Hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency gard_rare|ordo_disease MONDO:0024797 adult brain stem neoplasm biolink:Disease mondo UMLS:C1332192|NCIT:C5967 A brainstem neoplasm that occurs in an adult. UMLS:C1332192|NCIT:C5967 http://purl.obolibrary.org/obo/MONDO_0024797 tumor of adult brain stem|tumor of adult brainstem|tumor of the adult brain stem|adult brain stem neoplasm|adult brainstem neoplasm|neoplasm of the adult brainstem|neoplasm of adult brain stem|neoplasm of adult brainstem|neoplasm of the adult brain stem|adult brain stem tumor|adult brainstem tumor|brainstem neoplasm of adults|tumor of the adult brainstem HGNC:23752 CERS3 biolink:OntologyClass mondo http://identifiers.org/hgnc/23752 HGNC:11769 TGFB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11769 MONDO:0009179 recessive dystrophic epidermolysis bullosa biolink:Disease mondo Orphanet:79408|OMIM:226600|SCTID:48528004|ICD10:Q81.2|ICD9:757.39|DOID:0060642|GARD:0006308 Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. http://identifiers.org/omim/226600|ORPHA:79408|SNOMEDCT:48528004|DOID:0060642 http://purl.obolibrary.org/obo/MONDO_0009179 RDEB, Hallopeau-Siemens type|RDEB|RDEB generalisata gravis|dystrophic epidermolysis bullosa, autosomal recessive|epidermolysis bullosa dystrophica, Hallopeau-Siemens type|RDEB, severe generalized|epidermolysis bullosa dystrophica, autosomal recessive; RDEB|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type|epidermolysis bullosa dystrophica inversa, autosomal recessive|severe generalized RDEB|autosomal recessive dystrophic epidermolysis bullosa generalisata gravis|epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant|RDEB-sev gen|epidermolysis bullosa dystrophica, generalized severe, autosomal recessive|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)|severe generalized RDEB|recessive dystrophic epidermolysis bullosa, severe generalized|severe generalized recessive dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica, autosomal recessive ordo_disease MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica biolink:Disease mondo MESH:C562637|SCTID:254176007|OMIM:226500|ICD9:757.39 MESH:C562637|http://identifiers.org/omim/226500|SNOMEDCT:254176007 http://purl.obolibrary.org/obo/MONDO_0009178 epidermolysis bullosa progressiva, recessive|epidermolysis bullosa dystrophica Neurotrophica|epidermolysis bullosa with congenital deafness MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome biolink:Disease mondo MESH:C535492|ICD10:Q81.8|OMIM:226440|Orphanet:231556|UMLS:C1856969|GARD:0000299 ORPHA:231556|UMLS:C1856969|http://identifiers.org/omim/226440|MESH:C535492 http://purl.obolibrary.org/obo/MONDO_0009177 epidermolysis bullosa, late-onset localized junctional, with intellectual disability|epidermolysis bullosa, late-onset localized junctional, with mental retardation|epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders ordo_disease MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome biolink:Disease mondo ICD10:Q87.0|UMLS:C1848743|GARD:0005126|GARD:0005277|OMIM:275595|MESH:C564759|Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. http://identifiers.org/omim/275595|MESH:C564759|UMLS:C1848743|ORPHA:3368 http://purl.obolibrary.org/obo/MONDO_0010154 trigonocephaly - bifid nose - acral anomalies|trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia|trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ordo_malformation_syndrome MONDO:0009176 epidermodysplasia verruciformis biolink:Disease mondo NCIT:C126877|Orphanet:302|UMLS:C0014522|ICD9:757.8|OMIM:226400|ICD10:B07|MESH:D004819|MedDRA:10052339|OMIMPS:226400|ICD9:078.19|DOID:13777|GARD:0006357|SCTID:19138001 Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. MESH:D004819|UMLS:C0014522|MEDDRA:10052339|ORPHA:302|http://identifiers.org/omim/226400|DOID:13777|SNOMEDCT:19138001|NCIT:C126877 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis; EV|Lewandowsky-Lutz dysplasia|ever|Lewandowsky-Lutz syndrome|epidermodysplasia verruciformis|Lutz-Lewandowsky epidermodysplasia verruciformis|EV ordo_disease|gard_rare MONDO:0009175 eosinophilic fasciitis (disease) biolink:Disease mondo MedDRA:10014954|ICD9:728.89|NCIT:C112116|ICD10:M35.4|SCTID:24129002|GARD:0006351|OMIM:226350|HP:0045029|UMLS:C0264005|Orphanet:3165 Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed. ORPHA:3165|MEDDRA:10014954|SNOMEDCT:24129002|UMLS:C0264005|http://identifiers.org/omim/226350|NCIT:C112116 http://purl.obolibrary.org/obo/MONDO_0009175 Shulman syndrome|diffuse fasciitis with eosinophilia|EF|eosinophilic fasciitis ordo_disease MONDO:0010153 trichoodontoonychial dysplasia biolink:Disease mondo MESH:C564760|UMLS:C3502453|SCTID:766813000|GARD:0005267|OMIM:275450|Orphanet:3355 Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. http://identifiers.org/omim/275450|SNOMEDCT:766813000|UMLS:C3502453|MESH:C564760|ORPHA:3355 http://purl.obolibrary.org/obo/MONDO_0010153 trichoodontoonychial dysplasia with bone deficiency in frontoparietal region|trichoodontoonychial dysplasia with bone deficiency ordo_malformation_syndrome|gard_rare MONDO:0009174 protein-losing enteropathy (disease) biolink:Disease mondo HP:0002243|UMLS:C0033680|OMIM:226300|ICD9:579.8|DOID:10611|MESH:D011504|SCTID:22542007 Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine. SNOMEDCT:22542007|DOID:10611|UMLS:C0033680|http://identifiers.org/omim/226300|MESH:D011504 http://purl.obolibrary.org/obo/MONDO_0009174 CHAPLE|enteropathy, exudative|enteropathy, PROTEIN-losing|protein-losing enteropathy|complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy; CHAPLE|exudative enteropathy|complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy MONDO:0010156 Troyer syndrome biolink:Disease mondo GARD:0005372|OMIM:275900|MESH:C536858|SCTID:230264003|DOID:0050886|ICD10:G11.4|UMLS:C0393559|Orphanet:101000|ICD9:335.29 Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. SNOMEDCT:230264003|http://identifiers.org/omim/275900|MESH:C536858|DOID:0050886|ORPHA:101000|UMLS:C0393559 http://purl.obolibrary.org/obo/MONDO_0010156 childhood-onset spastic paraparesis-distal muscle wasting syndrome|autosomal recessive spastic paraplegia 20|childhood-onset spastic paraparesis with distal muscle wasting|spastic paraparesis, childhood-onset, with distal muscle wasting|SPG20|spastic paraplegia 20, autosomal recessive|hereditary spastic paraplegia 20|spastic paraplegia 20, autosomal recessive; SPG20|spastic paraplegia 20|spastic paraplegia, autosomal recessive, Troyer type|Cross-McKusick syndrome|spastic paraplegia 20 (Troyer syndrome)|Troyer syndrome|autosomal recessive spastic paraplegia Troyer type|spastic paraplegia type 20|autosomal recessive spastic paraplegia type 20 gard_rare|ordo_disease HGNC:11773 TGFBR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11773 MONDO:0010155 Dorfman-Chanarin disease biolink:Disease mondo OMIM:275630|ICD10:E75.5|GARD:0003979|Orphanet:98907|SCTID:19604005 SNOMEDCT:19604005|http://identifiers.org/omim/275630|ORPHA:98907 http://purl.obolibrary.org/obo/MONDO_0010155 ichthyotic neutral Lipid storage disease|Chanarin-Dorfman disease|Chanarin-Dorfman syndrome; CDS|ichthyosiform erythroderma with leukocyte vacuolation|triglyceride storage disease with impaired long-chain fatty acid oxidation|NLSDI|neutral lipid storage disease with ichthyotic|neutral lipid storage disease with ichthyosis|CDS|Chanarin-Dorfman syndrome|neutral Lipid storage disease with ichthyosis|Dorfman-Chanarin syndrome|Chanarin-Dorfman syndrome|Dorfman Chanarin syndrome|DCs|disorder of cornification 12 (neutral lipid storage type) ordo_disease MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency biolink:Disease mondo OMIM:226200|SCTID:190952002|UMLS:C0268416|ICD9:277.89|ICD10:K90.8|Orphanet:168601|MESH:C562649 Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. UMLS:C0268416|http://identifiers.org/omim/226200|SNOMEDCT:190952002|MESH:C562649|ORPHA:168601 http://purl.obolibrary.org/obo/MONDO_0009173 congenital enterokinase deficiency|enteropeptidase deficiency|enterokinase deficiency ordo_disease HGNC:11772 TGFBR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11772 MONDO:0009172 enterocolitis (disease) biolink:Disease mondo HP:0004387|SCTID:43752006|ICD9:558.9|NCIT:C79573|MESH:D004760|EFO:1001481|UMLS:C0014356|OMIM:226150 An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use. NCIT:C79573|UMLS:C0014356|http://identifiers.org/omim/226150|SNOMEDCT:43752006|MESH:D004760 http://purl.obolibrary.org/obo/MONDO_0009172 enterocolitis MONDO:0010158 T-substance anomaly biolink:Disease mondo OMIM:276200 http://identifiers.org/omim/276200 http://purl.obolibrary.org/obo/MONDO_0010158 T-substance anomaly HGNC:11779 TGM3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11779 MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia biolink:Disease mondo UMLS:C1856970|OMIM:226110|MESH:C565591 http://identifiers.org/omim/226110|MESH:C565591|UMLS:C1856970 http://purl.obolibrary.org/obo/MONDO_0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia MONDO:0010157 Tryptophanuria with dwarfism biolink:Disease mondo OMIM:276100|UMLS:C0268473|GARD:0004268|ICD9:259.4|MESH:C562658|SCTID:12045002 SNOMEDCT:12045002|MESH:C562658|http://identifiers.org/omim/276100|UMLS:C0268473 http://purl.obolibrary.org/obo/MONDO_0010157 Tryptophanuria with dwarfism gard_rare HGNC:11777 TGM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11777 MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta biolink:Disease mondo UMLS:C1856971|OMIM:226100|MESH:C565592 http://identifiers.org/omim/226100|MESH:C565592|UMLS:C1856971 http://purl.obolibrary.org/obo/MONDO_0009170 endocardial fibroelastosis and coarctation of abdominal aorta MONDO:0010159 constitutional mismatch repair deficiency syndrome biolink:Disease mondo SCTID:61665008|GARD:0000420|OMIM:276300|UMLS:C4321324|NCIT:C130202|UMLS:C0265325|MESH:C536928|Orphanet:252202 A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1. http://identifiers.org/omim/276300|UMLS:C4321324|UMLS:C0265325|MESH:C536928|NCIT:C130202|ORPHA:252202|SNOMEDCT:61665008 http://purl.obolibrary.org/obo/MONDO_0010159 glioma-polyposis syndrome|CMMR-D syndrome|malignant tumors of the central nervous system associated with familial polyposis of the colon|constitutional MIS-match repair deficiency syndrome|Btp1 syndrome|brain tumor-polyposis syndrome|mismatch repair cancer syndrome; MMRCS|Turcot syndrome|constitutional mismatch repair deficiency syndrome|MMRCS|mismatch repair deficiency|mismatch repair cancer syndrome|childhood cancer syndrome|brain tumor-polyposis syndrome 1|MMR deficiency|CNS tumors with familial polyposis of the colon|CMMR-D ordo_disease HGNC:11776 TGIF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11776 MONDO:0010150 head and neck squamous cell carcinoma biolink:Disease mondo ONCOTREE:HNSC|UMLS:C1168401|Orphanet:67037|MESH:C535575|DOID:5520|NCIT:C34447|EFO:0000181|MedDRA:10060121|OMIM:275355|SCTID:716659002 A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands. DOID:5520|NCIT:C34447|ORPHA:67037|SNOMEDCT:716659002|MESH:C535575|UMLS:C1168401|MEDDRA:10060121|http://identifiers.org/omim/275355 http://purl.obolibrary.org/obo/MONDO_0010150 craniocervical region squamous cell carcinoma|HNSCC|SCCHN|squamous cell carcinoma of head and neck|squamous cell carcinoma, head and neck; HNSCC|carcinoma of the head and neck|squamous cell carcinoma of the head and neck|squamous cell carcinoma, head and neck|head and neck squamous cell carcinoma|head and neck squamous cell carcinoma, NOS|squamous cell carcinomas of head and neck ordo_disease HGNC:11771 TGFBI biolink:OntologyClass mondo http://identifiers.org/hgnc/11771 MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome biolink:Disease mondo Orphanet:3363|MESH:C536554|OMIM:275400|SCTID:719944006|UMLS:C1848745|GARD:0005266 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. SNOMEDCT:719944006|MESH:C536554|UMLS:C1848745|ORPHA:3363|http://identifiers.org/omim/275400 http://purl.obolibrary.org/obo/MONDO_0010152 eyelashes, long, with intellectual disability|trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina|trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina|long eyelashes-intellectual disability syndrome|Oliver-McFarlane syndrome; OMCS|Oliver-McFarlane syndrome|eyelashes, long, with mental retardation|trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina|Oliver McFarlane syndrome|OMCS|eyelashes, long with intellectual disability ordo_malformation_syndrome MONDO:0010151 tricarboxylic acid cycle, defect of biolink:Disease mondo MESH:C564762|OMIM:275370|UMLS:C1848746 MESH:C564762|UMLS:C1848746|http://identifiers.org/omim/275370 http://purl.obolibrary.org/obo/MONDO_0010151 tricarboxylic acid cycle, defect of HP:0011314 Abnormality of long bone morphology biolink:PhenotypicFeature mondo UMLS:C4021165 An abnormality of size or shape of the long bones. http://purl.obolibrary.org/obo/HP_0011314 Abnormal shape of long bone|Abnormality of the tubular bones MONDO:0010139 isolated thyroid-stimulating hormone deficiency biolink:Disease mondo UMLS:C4082174|Orphanet:90674|OMIM:275100|GARD:0010129|UMLS:C0271789|DOID:0070123|ICD10:E03.1 Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis. UMLS:C4082174|DOID:0070123|http://identifiers.org/omim/275100|UMLS:C0271789|ORPHA:90674 http://purl.obolibrary.org/obo/MONDO_0010139 thyrotropin, biologically inactive|hypothyroidism, congenital, nongoitrous, type 4|thyroid-stimulating hormone deficiency|thyroid-stimulating hormone, deficiency of|hypothyroidism, congenital, nongoitrous, 4|TSH deficiency|pituitary cretinism|thyrotropin deficiency, isolated|congenital nongoitrous hypothyroidism 4|congenital nongoitrous hypothryoidism 4|isolated thyrotropin deficiency|isolated TSH deficiency|CHNG4|hypothyroidism, congenital, nongoitrous, 4; CHNG4 ordo_disease MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome biolink:Disease mondo OMIM:225040|UMLS:C1857053|MESH:C565605|Orphanet:1812|ICD10:Q87.8 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. ORPHA:1812|MESH:C565605|http://identifiers.org/omim/225040|UMLS:C1857053 http://purl.obolibrary.org/obo/MONDO_0009149 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum ordo_malformation_syndrome MONDO:0009148 Rosselli-Gulienetti syndrome biolink:Disease mondo UMLS:C0796139|OMIM:225000|Orphanet:90339|MESH:C563117 A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene http://identifiers.org/omim/225000|MESH:C563117|UMLS:C0796139|ORPHA:90339 http://purl.obolibrary.org/obo/MONDO_0009148 Rosselli-Gulienetti syndrome speculative MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive biolink:Disease mondo UMLS:C3887494|OMIM:224900 http://identifiers.org/omim/224900|UMLS:C3887494 http://purl.obolibrary.org/obo/MONDO_0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; ECTD10B|ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic|ECTD10B|ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome biolink:Disease mondo GARD:0009723|OMIM:224800|MESH:C565606|Orphanet:1883|MESH:C535757|UMLS:C1857068 Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. MESH:C565606|MESH:C535757|http://identifiers.org/omim/224800|UMLS:C1857068|ORPHA:1883 http://purl.obolibrary.org/obo/MONDO_0009146 hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers|ectodermal dysplasia and neurosensory deafness|congenital ectodermal dysplasia with hearing loss|Mikaelian syndrome|ectodermal dysplasia-sensorineural hearing loss syndrome ordo_malformation_syndrome|gard_rare MONDO:0009145 SchC6pf-Schulz-Passarge syndrome biolink:Disease mondo ICD9:758.89|SCTID:700062000|MESH:C565607|UMLS:C1857069|OMIM:224750|ICD10:Q82.8|Orphanet:50944 SchC6pf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy. SNOMEDCT:700062000|http://identifiers.org/omim/224750|UMLS:C1857069|ORPHA:50944|MESH:C565607 http://purl.obolibrary.org/obo/MONDO_0009145 keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome|palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|SChöPF-Schulz-Passarge syndrome|eccrine tumors-ectodermal dysplasia|eccrine tumors with ectodermal dysplasia|SSPS|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|SCHOPF-Schulz-Passarge syndrome|SCHOPF-Schulz-Passarge syndrome; SSPS|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome ordo_disease MONDO:0009144 Ebstein anomaly (disease) biolink:Disease mondo ICD10:Q22.5|EFO:0007244|ICD9:746.2|GARD:0006313|DOID:14289|OMIM:224700|COHD:4069182|Orphanet:1880|NCIT:C84681|MESH:D004437|MedDRA:10014075|UMLS:C0013481 Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. MEDDRA:10014075|http://identifiers.org/omim/224700|MESH:D004437|NCIT:C84681|UMLS:C0013481|DOID:14289|ORPHA:1880 http://purl.obolibrary.org/obo/MONDO_0009144 Ebstein's malformation|Ebstein's anomaly of tricuspid valve|Ebstein's anomaly (disorder) [ambiguous]|Ebstein malformation|Ebstein's anomaly of right atrioventricular valve|Ebstein anomaly|Ebstein's anomaly|Ebstein's anomaly of common atrioventricular valve|Ebstein anomaly of the tricuspid valve ordo_morphological_anomaly MONDO:0010143 lethal restrictive dermopathy biolink:Disease mondo SCTID:400128006|GARD:0001516|DOID:0060762|MESH:C536920|OMIM:275210|ICD10:Q82.8|Orphanet:1662|UMLS:C0406585 Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. http://identifiers.org/omim/275210|UMLS:C0406585|SNOMEDCT:400128006|ORPHA:1662|MESH:C536920|DOID:0060762 http://purl.obolibrary.org/obo/MONDO_0010143 restrictive dermopathy, lethal|hyperkeratosis-contracture syndrome|restrictive dermopathy|fetal hypokinesia sequence due to restrictive dermopathy|tight skin contracture syndrome, lethal|lethal restrictive dermopathy|tight skin contracture syndrome ordo_disease MONDO:0009143 Meier-Gorlin syndrome 1 biolink:Disease mondo OMIM:224690|ICD9:759.89|SCTID:703508009|UMLS:CN030358 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene. http://identifiers.org/omim/224690|SNOMEDCT:703508009|UMLS:CN030358 http://purl.obolibrary.org/obo/MONDO_0009143 Meier-GORLIN syndrome 1; MGORS1|ORC1 Meier-Gorlin syndrome|Meier-Gorlin syndrome 1|Meier-Gorlin syndrome|microtia, absent patellae, micrognathia syndrome|Ear, patella, short stature syndrome|Meier-Gorlin syndrome type 1|Meier-Gorlin syndrome caused by mutation in ORC1|MGORS1 HGNC:11742 TFAP2A biolink:OntologyClass mondo http://identifiers.org/hgnc/11742 CHEBI:16716 benzene biolink:ChemicalSubstance mondo A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. http://purl.obolibrary.org/obo/CHEBI_16716 [6]annulene|Phene|Pyrobenzole|Pyrobenzol|BENZENE|benzene|Benzene|Benzine|phenyl hydride|Benzol|Mineral naphtha|Bicarburet of hydrogen|Coal naphtha|benzole|Benzen|cyclohexatriene MONDO:0010142 hypothyroidism due to TSH receptor mutations biolink:Disease mondo DOID:0070126|ICD10:E03.1|UMLS:CN206435|UMLS:C3493776|OMIM:275200|Orphanet:90673 Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. http://identifiers.org/omim/275200|ORPHA:90673|UMLS:C3493776|UMLS:CN206435|DOID:0070126 http://purl.obolibrary.org/obo/MONDO_0010142 hypothyroidism, congenital, nongoitrous, type 1|CHNG1|hypothyroidism, congenital, nongoitrous, 1|hypothyroidism due to unresponsiveness to thyrotropin|hypothyroidism, congenital, nongoitrous, 1; CHNG1|congenital nongoitrous hypothyroidism 1|congenital nongoitrous hypothryoidism 1|TSH resistance|thyroid-stimulating hormone, resistance to|hypothyroidism, congenital, due to TSH resistance|hypothyroidism, Nonautoimmune|thyrotropin resistance ordo_disease MONDO:0009142 dystonia with Ringbinden biolink:Disease mondo MESH:C565608|UMLS:C1857089|OMIM:224550 http://identifiers.org/omim/224550|UMLS:C1857089|MESH:C565608 http://purl.obolibrary.org/obo/MONDO_0009142 dystonia with Ringbinden HGNC:11741 TFAM biolink:OntologyClass mondo http://identifiers.org/hgnc/11741 MONDO:0009141 torsion dystonia 2 biolink:Disease mondo GARD:0002028|NCIT:C123415|UMLS:C1857093|ICD10:G24.1|DOID:0090038|Orphanet:99657|OMIM:224500|MESH:C538006 Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. http://identifiers.org/omim/224500|NCIT:C123415|MESH:C538006|UMLS:C1857093|ORPHA:99657|DOID:0090038 http://purl.obolibrary.org/obo/MONDO_0009141 torsion dystonia 2, autosomal recessive type|torsion dystonia type 2|autosomal recessive torsion dystonia 2|dystonia musculorum deformans type 2|dystonia musculorum deformans 2|HPCA dystonic disorder|dystonia 2, torsion, autosomal recessive|primary dystonia, DYT2 type|dystonia 2, torsion, autosomal recessive; DYT2|DYT2|dystonic disorder caused by mutation in HPCA ordo_disease MONDO:0010145 tibia, absence of, with congenital deafness biolink:Disease mondo UMLS:C1848758|MESH:C564764|OMIM:275230 http://identifiers.org/omim/275230|MESH:C564764|UMLS:C1848758 http://purl.obolibrary.org/obo/MONDO_0010145 tibia, absence of, with congenital deafness HGNC:11740 TF biolink:OntologyClass mondo http://identifiers.org/hgnc/11740 MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia biolink:Disease mondo ICD9:759.89|ICD10:Q77.7|OMIM:224410|SCTID:93132001|MESH:C537998|DOID:0090032|GARD:0002026|Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. http://identifiers.org/omim/224410|SNOMEDCT:93132001|ORPHA:1865|MESH:C537998|DOID:0090032 http://purl.obolibrary.org/obo/MONDO_0009140 dyssegmental dysplasia Silverman-Handmaker type|Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type|Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type|dyssegmental dwarfism, Silverman-Handmaker type|DDSH|dyssegmental dysplasia, Silverman-Handmaker type; DDSH|dyssegmental dwarfism Silverman-Handmaker type|dyssegmental dysplasia, Silverman-Handmaker type gard_rare|ordo_disease MONDO:0010144 tibial hemimelia biolink:Disease mondo OMIM:275220|ICD10:Q72.5|GARD:0008707|MESH:C535563|Orphanet:93322|SCTID:79177001 Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula. http://identifiers.org/omim/275220|MESH:C535563|SNOMEDCT:79177001|ORPHA:93322 http://purl.obolibrary.org/obo/MONDO_0010144 bilateral absence of the tibia|tibial hemimelia|absence of tibia|congenital aplasia and dysplasia of the tibia with intact fibula|tibial longitudinal meromelia|congenital longitudinal deficiency of the tibia|Thm|tibia, absence of|congenital absence of tibia ordo_morphological_anomaly MONDO:0010147 tongue, pigmented fungiform papillae of biolink:Disease mondo UMLS:C1848756|OMIM:275250 UMLS:C1848756|http://identifiers.org/omim/275250 http://purl.obolibrary.org/obo/MONDO_0010147 tongue, pigmented fungiform papillae of MONDO:0010146 Kerion celsi biolink:Disease mondo ICD10:B35.0|GARD:0003109|OMIM:275240|SCTID:19087001|Orphanet:499|UMLS:C0276742 A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy. http://identifiers.org/omim/275240|MESH:C536165|ORPHA:499|UMLS:C0276742|SNOMEDCT:19087001 http://purl.obolibrary.org/obo/MONDO_0010146 Tinea capitis profunda|trichophytia profunda barbae|trichophytia profunda capitis|TINEA imbricata, susceptibility to|susceptibility to Tinea imbricata|Trichophyton infection gard_rare|ordo_disease MONDO:0010149 transcobalamin II deficiency biolink:Disease mondo ICD10:D51.2|UMLS:C0342701|GARD:0012338|NCIT:C142806|OMIM:275350|Orphanet:859|SCTID:237934001|DOID:0050818 Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia. NCIT:C142806|http://identifiers.org/omim/275350|SNOMEDCT:237934001|DOID:0050818|ORPHA:859|UMLS:C0342701 http://purl.obolibrary.org/obo/MONDO_0010149 TCN2 deficiency|transcobalamin 2 deficiency|transcobalamin deficiency|TC 2 deficiency|Tcn2 deficiency|transcobalamin II deficiency|inherited deficiency of transcobalamin ordo_disease MONDO:0010148 Mounier-Kuhn syndrome biolink:Disease mondo GARD:0003793|UMLS:C2713583|Orphanet:3347|NCIT:C85196|SCTID:57451009|ICD9:748.3|UMLS:C0040587|ICD10:J98.0|OMIM:275300|MedDRA:10044316|MESH:D014137|GARD:0005234 Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections. ORPHA:3347|MESH:D014137|http://identifiers.org/omim/275300|UMLS:C2713583|SNOMEDCT:57451009|UMLS:C0040587|NCIT:C85196|MEDDRA:10044316 http://purl.obolibrary.org/obo/MONDO_0010148 tracheobronchomegaly|idiopathic tracheobronchomegaly|congenital tracheobronchomegaly|Mounier-Kühn syndrome|Mounier Kuhn syndrome|Mounier-Kuhn syndrome ordo_clinical_syndrome HGNC:11743 TFAP2B biolink:OntologyClass mondo http://identifiers.org/hgnc/11743 MONDO:0010141 tiglic acidemia biolink:Disease mondo ICD9:270.8|UMLS:C1848793|MESH:C536921|GARD:0009958|SCTID:444755001|OMIM:275190 http://identifiers.org/omim/275190|SNOMEDCT:444755001|MESH:C536921|UMLS:C1848793 http://purl.obolibrary.org/obo/MONDO_0010141 disorder of isoleucine metabolism|tiglic acidemia gard_rare NCBITaxon:38323 Bartonella henselae organism taxon mondo PMID:8240958|GC_ID:11|PMID:1371515 http://purl.obolibrary.org/obo/NCBITaxon_38323 Rochalimaea henselae HGNC:23719 PGAP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/23719 MONDO:0010140 isolated thyrotropin-releasing hormone deficiency biolink:Disease mondo Orphanet:238670|SCTID:10736002|ICD10:E03.1|NCIT:C121741|OMIM:275120|ICD9:253.4 Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. NCIT:C121741|ORPHA:238670|SNOMEDCT:10736002|http://identifiers.org/omim/275120 http://purl.obolibrary.org/obo/MONDO_0010140 isolated thyroliberin deficiency|isolated TRF deficiency|thyrotropin-releasing hormone deficiency|isolated protirelin deficiency|isolated TRH deficiency|isolated TSH-releasing factor deficiency|tertiary hypothyroidism|isolated thyrotropin-releasing factor deficiency|hypothalamic hypothyroidism|TRH deficiency|isolated prothyroliberin deficiency ordo_disease MONDO:0022113 central centrifugal cicatricial alopecia biolink:Disease mondo GARD:0010826|UMLS:C1274708|OMIM:618352|ICD9:704.09|SCTID:109441000119102 SNOMEDCT:109441000119102|UMLS:C1274708|http://identifiers.org/omim/618352 http://purl.obolibrary.org/obo/MONDO_0022113 hot comb alopecia|central centrifugal alopecia|CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA; CCCA|central centrifugal cicatricial alopecia gard_rare HGNC:23734 PTF1A biolink:OntologyClass mondo http://identifiers.org/hgnc/23734 MONDO:0010129 thymic-renal-anal-lung dysplasia biolink:Disease mondo GARD:0005202|ICD10:Q87.8|SCTID:723555007|OMIM:274265|Orphanet:3326|UMLS:C1848812|MESH:C536907 This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. SNOMEDCT:723555007|UMLS:C1848812|ORPHA:3326|http://identifiers.org/omim/274265|MESH:C536907 http://purl.obolibrary.org/obo/MONDO_0010129 syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)|thymic-renal-anal-lung dysplasia ordo_malformation_syndrome|gard_rare MONDO:0010128 thyrocerebrorenal syndrome biolink:Disease mondo GARD:0005203|Orphanet:3327|MESH:C536908|OMIM:274240|UMLS:C4518579|SCTID:733096007|UMLS:C1848813 Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. UMLS:C1848813|UMLS:C4518579|ORPHA:3327|SNOMEDCT:733096007|http://identifiers.org/omim/274240|MESH:C536908 http://purl.obolibrary.org/obo/MONDO_0010128 Thyrocerebral-retinal syndrome|cutler-Bass-Romshe syndrome|THYROCEREBRORETINAL syndrome ordo_malformation_syndrome MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type biolink:Disease mondo MESH:C536200|SCTID:720858001|ICD10:Q79.6|OMIM:225320|GARD:0012613|Orphanet:230851 Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. http://identifiers.org/omim/225320|UMLS:C1857034|SNOMEDCT:720858001|MESH:C536200|ORPHA:230851 http://purl.obolibrary.org/obo/MONDO_0009159 Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form|EDS, cardiac valvular type|Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome|Cardiac valvular form of Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, CARDIAC valvular type; EDSCV|Cardiac-valvular Ehlers-Danlos syndrome|Cardiac-valvular EDS|cvEDS|Ehlers-Danlos syndrome, arthrochalasis type|Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form|EDSCV ordo_disease HP:0001999 Abnormal facial shape biolink:PhenotypicFeature mondo SNOMEDCT_US:398302004|UMLS:C0424503|UMLS:C4072833|SNOMEDCT_US:32003007|UMLS:C1385263|UMLS:C4072832|SNOMEDCT_US:398206004|SNOMEDCT_US:248200007|UMLS:C0266617 An abnormal morphology (form) of the face or its components. http://purl.obolibrary.org/obo/HP_0001999 Facial dysmorphism|Abnormal facial shape|Malformation of face|Deformity of face|Unusual facial appearance|Distortion of face|Unusual facies|Dysmorphic facial features|Dysmorphic facies|Distinctive facies|Abnormal morphology of the face|Funny looking face hposlim_core MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type biolink:Disease mondo SCTID:83586000|ICD10:Q79.6|GARD:0008508|Orphanet:75501|OMIM:225310|MESH:C565600 Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive. http://identifiers.org/omim/225310|ORPHA:75501|SNOMEDCT:83586000|MESH:C565600 http://purl.obolibrary.org/obo/MONDO_0009158 EDS X|Ehlers-Danlos syndrome, type 10|FN Abnormality|EDS10 (formerly)|Ehlers-Danlos syndrome type 10|Ehlers-Danlos syndrome, fibronectin-deficient|EDS 10|Ehlers-Danlos syndrome type 10 (formerly)|Ehlers-Danlos syndrome, type X (formerly)|Ehlers-Danlos syndrome, dysfibronectinemic type|Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality ordo_disease MONDO:0009157 split hand-foot malformation 6 biolink:Disease mondo ICD10:Q71.6|OMIM:225300|MESH:C567616|DOID:0090026|UMLS:C2749665 Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene. http://identifiers.org/omim/225300|MESH:C567616|UMLS:C2749665|DOID:0090026 http://purl.obolibrary.org/obo/MONDO_0009157 split hand-foot malformation caused by mutation in WNT10B|WNT10B split hand-foot malformation|split-hand/foot malformation 6; SHFM6|split hand-foot malformation type 6|SHFM6|split-hand/foot malformation 6|split-hand/foot malformation type 6|ectrodactyly, autosomal recessive CHEBI:16709 pyridoxine biolink:ChemicalSubstance mondo A hydroxymethylpyridine with hydroxymethyl groups at positions 4 and 5, a hydroxy group at position 3 and a methyl group at position 2. The 4-methanol form of vitamin B6, it is converted intoto pyridoxal phosphate which is a coenzyme for synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid. http://purl.obolibrary.org/obo/CHEBI_16709 Pyridoxol|Pyridoxine|3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine|pyridoxine|4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol|vitamin B6|2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine|3-hydroxy-4,5-dimethylol-alpha-picoline|5-hydroxy-6-methyl-3,4-pyridinedimethanol MONDO:0009156 ectrodactyly-polydactyly syndrome biolink:Disease mondo OMIM:225290|MESH:C565601|Orphanet:1892|ICD10:Q74.8|UMLS:C1857040 Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. UMLS:C1857040|ORPHA:1892|MESH:C565601|http://identifiers.org/omim/225290 http://purl.obolibrary.org/obo/MONDO_0009156 ectrodactyly-polydactyly ordo_malformation_syndrome MONDO:0009155 EEM syndrome biolink:Disease mondo GARD:0002078|ICD10:Q87.8|Orphanet:1897|MESH:C536190|SCTID:720856002|OMIM:225280 EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). UMLS:C1857041|MESH:C536190|ORPHA:1897|SNOMEDCT:720856002|http://identifiers.org/omim/225280 http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome|EEMS|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome; EEMS|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ordo_malformation_syndrome|gard_rare MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 biolink:Disease mondo ICD10:E03.1|OMIM:225250|DOID:0070125|UMLS:C2673630|MESH:C567123 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene. DOID:0070125|MESH:C567123|http://identifiers.org/omim/225250|UMLS:C2673630 http://purl.obolibrary.org/obo/MONDO_0009154 CHNG5|hypothyroidism, congenital, nongoitrous, 5; CHNG5|hypothyroidism, congenital, nongoitrous, 5|NKX2-5 hypothyroidism, congenital, nongoitrous|congenital nongoitrous hypothyroidism 5|hypothyroidism, congenital, nongoitrous, type 5|congenital nongoitrous hypothryoidism 5|hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5 MONDO:0010132 familial thyroid dyshormonogenesis biolink:Disease mondo NCIT:C121751|ICD10:E03.1|SCTID:718183003|ICD10:E03.0|MESH:C564766|UMLS:C1848805|Orphanet:95716 Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. UMLS:C1848805|NCIT:C121751|SNOMEDCT:718183003|MESH:C564766|ORPHA:95716 http://purl.obolibrary.org/obo/MONDO_0010132 dyshormonogenesis|thyroid dyshormonogenesis ordo_disease MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism biolink:Disease mondo MESH:C567423|UMLS:C2677524|OMIM:612089 UMLS:C2677524|http://identifiers.org/omim/612089|MESH:C567423 http://purl.obolibrary.org/obo/MONDO_0012795 hypophosphatemic rickets and hyperparathyroidism MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive biolink:Disease mondo NCIT:C85191|OMIM:274300|GARD:0000301|HGNC:11799 A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. http://identifiers.org/omim/274300|NCIT:C85191 http://purl.obolibrary.org/obo/MONDO_0010131 thyroid hormone Resistance|thyroid hormone resistance, generalized, autosomal recessive; GRTH|Refetoff syndrome|thyroid hormone unresponsiveness|thyroid hormone Resistance syndrome|thyroid hormone resistance, generalized, autosomal recessive|THRB|thyroid hormone receptor BETA|GRTH|Gthr|thyroid hormone Resistance syndrome gard_rare MONDO:0012796 retinitis pigmentosa 41 biolink:Disease mondo UMLS:C2677516|OMIM:612095|GARD:0010379|MESH:C567422|ICD10:H35.5|DOID:0110376 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene. http://identifiers.org/omim/612095|UMLS:C2677516|MESH:C567422|DOID:0110376 http://purl.obolibrary.org/obo/MONDO_0012796 retinitis pigmentosa 41; RP41|retinitis pigmentosa 41|RP 41|RP41|retinitis pigmentosa type 41|PROM1 retinitis pigmentosa|retinal Degeneration, autosomal recessive, prominin-related|retinitis pigmentosa caused by mutation in PROM1 gard_rare CHEBI:16705 6-aminopenicillanic acid biolink:ChemicalSubstance mondo A penicillanic acid compound having a (6R)-amino substituent. The active nucleus common to all penicillins, it may be substituted at the 6-amino position to form the semisynthetic penicillins, resulting in a variety of antibacterial and pharmacologic characteristics. http://purl.obolibrary.org/obo/CHEBI_16705 Penicin|6-Aminopenicillanate|6-Aminopenicillamine acid|6-amino-2,2-dimethylpenam-3alpha-carboxylic acid|Aminopenicillanic acid|(+)-6-aminopenicillanic acid|6-Aminopenicillanic acid|Penin|(2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|6-Aps|6-APA|6-Apa|Phenacyl 6-aminopenicillinate|6beta-aminopenicillanic acid MONDO:0009153 ectopia lentis et pupillae biolink:Disease mondo SCTID:419237004|MESH:C563268|UMLS:C1644196|OMIM:225200 SNOMEDCT:419237004|UMLS:C1644196|http://identifiers.org/omim/225200|MESH:C563268 http://purl.obolibrary.org/obo/MONDO_0009153 ectopia lentis et pupillae|ectopia lentis with ectopia of pupil HGNC:11752 TFE3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11752 MONDO:0010134 Pendred syndrome biolink:Disease mondo OMIM:274600|DOID:0060744|Orphanet:705|GARD:0004271|ICD10:E07.1|MESH:C536648|SCTID:70348004|NCIT:C121745|UMLS:C0271829 Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. UMLS:C0271829|http://identifiers.org/omim/274600|NCIT:C121745|MESH:C536648|ORPHA:705|SNOMEDCT:70348004|DOID:0060744 http://purl.obolibrary.org/obo/MONDO_0010134 Pendred syndrome|hypothyroidism, congenital, due to dyshormonogenesis, 2B|thyroid hormonogenesis, genetic defect in, 2B|autosomal recessive sensorineural hearing impairment and goiter|thyroid dyshormonogenesis 2B|PDS|goiter-deafness syndrome|Pendred syndrome; PDS|deafness with goiter|congenital hypothyroidism due to dyshormonogenesis 2B|TDH2B|genetic defect in thyroid hormonogenesis 2B ordo_malformation_syndrome|clingen MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive biolink:Disease mondo GARD:0002060|UMLS:C3541474|OMIM:225100|DOID:0111149 An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. DOID:0111149|http://identifiers.org/omim/225100|UMLS:C3541474 http://purl.obolibrary.org/obo/MONDO_0009152 ectopia lentis, isolated autosomal recessive|autosomal recessive isolated ectopia lentis|ECTOL2|ectopia lentis 2, isolated, autosomal recessive; ECTOL2|autosomal recessive isolated ectopia lentis 2|ectopia lentis 2, isolated, autosomal recessive MONDO:0012793 hypouricemia, renal, 2 biolink:Disease mondo UMLS:C2677549|MESH:C567426|OMIM:612076 UMLS:C2677549|http://identifiers.org/omim/612076|MESH:C567426 http://purl.obolibrary.org/obo/MONDO_0012793 gout susceptibility 2|hypouricemia, renal, 2; RHUC2|hypouricemia, renal, type 2|hypouricemia, renal, 2|RHUC2|uric acid concentration, serum, quantitative trait locus 2 MONDO:0009151 Zlotogora-Ogur syndrome biolink:Disease mondo NCIT:C122656|SCTID:716248001|GARD:0000375|Orphanet:3253|DOID:0060773|GARD:0001045|OMIM:225060 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. SNOMEDCT:716248001|DOID:0060773|ORPHA:3253|NCIT:C122656|MESH:C536726|http://identifiers.org/omim/225060 http://purl.obolibrary.org/obo/MONDO_0009151 ectodermal dysplasia, margarita Island type|orofacial cleft 7|cleft lip/palate-ectodermal dysplasia syndrome; CLPED1|Zlotogora-Zilberman-Tenenbaum syndrome|margarita type of ectodermal dysplasia|ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly|CLPED1|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, type 4|Zlotogora-Ogur syndrome|ectodermal dysplasia type 4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti|cleft lip with or without cleft palate, nonsyndromic, 7|Bustos Simosa pinto Cisternas syndrome|ectodermal dysplasia margarita island type|autosomal recessive ectodermal dysplasia|cleft lip-palate-ectodermal dysplasia syndrome|cleft lip/palate-ectodermal dysplasia syndrome|Zlotogora syndrome|ED4 gard_rare|ordo_malformation_syndrome MONDO:0012794 ANE syndrome biolink:Disease mondo OMIM:612079|MESH:C567425|Orphanet:157954|UMLS:C2677535 ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis. UMLS:C2677535|http://identifiers.org/omim/612079|MESH:C567425|ORPHA:157954 http://purl.obolibrary.org/obo/MONDO_0012794 alopecia, neurologic defects, and endocrinopathy syndrome; anes|alopecia-progressive neurological defect-endocrinopathy syndrome|alopecia, neurologic defects, and endocrinopathy syndrome|anes|ANE syndrome ordo_disease MONDO:0010133 thyroid dyshormonogenesis 2A biolink:Disease mondo MESH:C563206|NCIT:C121750|SCTID:124204003|ICD9:277.6|UMLS:C1291299|OMIM:274500 Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. http://identifiers.org/omim/274500|NCIT:C121750|MESH:C563206|SNOMEDCT:124204003|UMLS:C1291299 http://purl.obolibrary.org/obo/MONDO_0010133 thyroid dyshormonogenesis type 2A|thyroid hormonogenesis, genetic defect in, 2A|thyroid peroxidase deficiency|iodide peroxidase deficiency|familial thyroid dyshormonogenesis caused by mutation in TPO|TPO familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 2A; TDH2A|TDH2A|thyroid dyshormonogenesis 2A|hypothyroidism, congenital, due to dyshormonogenesis, 2A MONDO:0012799 hypertrophic cardiomyopathy 11 biolink:Disease mondo MESH:C567419|UMLS:C2677506|DOID:0110317|OMIM:612098 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. http://identifiers.org/omim/612098|UMLS:C2677506|MESH:C567419|DOID:0110317 http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy caused by mutation in ACTC1|cardiomyopathy, familial hypertrophic, 11|cardiomyopathy, familial hypertrophic, 11; CMH11|CMH11|cardiomyopathy familial hypertrophic 11|ACTC1 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 11|hypertrophic cardiomyopathy type 11 MONDO:0010136 thyroid dyshormonogenesis 4 biolink:Disease mondo UMLS:C0342195|SCTID:17885001|MESH:C562770|OMIM:274800 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene. MESH:C562770|SNOMEDCT:17885001|http://identifiers.org/omim/274800|UMLS:C0342195 http://purl.obolibrary.org/obo/MONDO_0010136 thyroid hormonogenesis, genetic defect in, 4|iodotyrosine dehalogenase deficiency|deiodinase deficiency|thyroid dyshormonogenesis 4|TDH4|hypothyroidism, congenital, due to dyshormonogenesis, 4|familial thyroid dyshormonogenesis caused by mutation in IYD|thyroid dyshormonogenesis type 4|IYD familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 4; TDH4 MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome biolink:Disease mondo MESH:C565604|ICD10:Q82.4|Orphanet:1882|GARD:0002049|OMIM:225050|SCTID:239050000 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive. SNOMEDCT:239050000|ORPHA:1882|MESH:C565604|http://identifiers.org/omim/225050 http://purl.obolibrary.org/obo/MONDO_0009150 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia|HEDH syndrome|hypohidrotic ectodermal dysplasia with hypothyroidism|hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia|hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia|another syndrome|ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia gard_rare|ordo_malformation_syndrome MONDO:0010135 thyroid dyshormonogenesis 3 biolink:Disease mondo UMLS:C0342194|SCTID:23536000|OMIM:274700|MESH:C562769 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene. MESH:C562769|SNOMEDCT:23536000|http://identifiers.org/omim/274700|UMLS:C0342194 http://purl.obolibrary.org/obo/MONDO_0010135 familial thyroid dyshormonogenesis caused by mutation in TG|thyroid hormonogenesis, genetic defect in, 3|thyroid dyshormonogenesis 3|TDH3|hypothyroidism, congenital, due to dyshormonogenesis, 3|thyroid dyshormonogenesis type 3|TG familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 3; TDH3 HP:0001997 Gout biolink:PhenotypicFeature mondo SNOMEDCT_US:190828008|SNOMEDCT_US:48440001|MSH:D015210|SNOMEDCT_US:90560007|SNOMEDCT_US:170733007|MSH:D006073|UMLS:C0018099|UMLS:C0003868 Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. http://purl.obolibrary.org/obo/HP_0001997 Gouty arthritis MONDO:0012797 OTSC8 biolink:Disease mondo UMLS:C2677515|MESH:C567421|OMIM:612096 http://identifiers.org/omim/612096|UMLS:C2677515|MESH:C567421 http://purl.obolibrary.org/obo/MONDO_0012797 OTSC8|otosclerosis 8|otosclerosis 8; OTSC8 MONDO:0010138 thyrotoxicosis biolink:Disease mondo COHD:138387|SCTID:90739004|MESH:D013971|OMIM:275000|ICD9:242|ICD10:E05.9|NCIT:C61469|DOID:7997|EFO:0009190|ICD9:242.80|UMLS:C0040156|ICD9:242.90 A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. http://identifiers.org/omim/275000|DOID:7997|SNOMEDCT:90739004|UMLS:C0040156|MESH:D013971|NCIT:C61469 http://purl.obolibrary.org/obo/MONDO_0010138 GRD1|Grd|Graves disease, susceptibility to, 1; GRD1|hyperthyroidism, autoimmune|thyrotoxicosis|Graves disease, susceptibility to, 1 predisposition MONDO:0010137 thyroid dyshormonogenesis 5 biolink:Disease mondo UMLS:C0342196|SCTID:63127008|MESH:C562771|OMIM:274900 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene. MESH:C562771|SNOMEDCT:63127008|http://identifiers.org/omim/274900|UMLS:C0342196 http://purl.obolibrary.org/obo/MONDO_0010137 DUOXA2 familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 5|TDH5|thyroid dyshormonogenesis 5|hypothyroidism, congenital, due to dyshormonogenesis, 5|familial thyroid dyshormonogenesis caused by mutation in DUOXA2|thyroid dyshormonogenesis type 5|thyroid dyshormonogenesis 5; TDH5 MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops biolink:Disease mondo UMLS:C2677512|MESH:C567420|OMIM:612097 http://identifiers.org/omim/612097|UMLS:C2677512|MESH:C567420 http://purl.obolibrary.org/obo/MONDO_0012798 deafness, unilateral, with delayed endolymphatic hydrops MONDO:0022109 catatrichy biolink:Disease mondo GARD:0010080|UMLS:C1861799|MESH:C535346 UMLS:C1861799|MESH:C535346 http://purl.obolibrary.org/obo/MONDO_0022109 forelock gard_rare MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria biolink:Disease mondo ICD10:G71.3|MESH:C567624|Orphanet:1933|DOID:0080124|GARD:0003681|OMIM:612073 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA. http://identifiers.org/omim/612073|DOID:0080124|MESH:C567624|ORPHA:1933 http://purl.obolibrary.org/obo/MONDO_0012791 mitochondrial DNA depletion syndrome type 5|MTDPS5|mitochondrial DNA depletion syndrome 5|encephalomyopathy|mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related|mitochondrial encephalomyopathy aminoacidopathy|mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)|mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); MTDPS5|booth-Haworth-Dilling syndrome|mitochondrial encephalomyopathy-aminoacidopathy syndrome|mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive gard_rare|ordo_disease MONDO:0012792 mitochondrial DNA depletion syndrome 8a biolink:Disease mondo OMIM:612075|SCTID:765100000|DOID:0080127|ICD10:G31.8|Orphanet:255235|GARD:0013200 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene. http://identifiers.org/omim/612075|DOID:0080127|ORPHA:255235|SNOMEDCT:765100000 http://purl.obolibrary.org/obo/MONDO_0012792 mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy|Mngie, Rrm2B-related|mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)|RRM2B-related mitochondrial DNA depletion syndrome|RRM2B mitochondrial DNA depletion syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related|mitochondrial DNA depletion syndrome 8B (Mngie type)|mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy|encephalomyopathic type with renal tubulopathy|mitochondrial DNA depletion syndrome type 8a|MTDPS8A|mitochondrial DNA depletion syndrome caused by mutation in RRM2B|mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A ordo_disease NCBITaxon:1658400 Hectopsyllidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1658400 Tunginae|Tungidae MONDO:0010130 dihydropyrimidine dehydrogenase deficiency biolink:Disease mondo ICD9:277.2|GARD:0000019|OMIM:274270|ICD10:E79.8|UMLS:C1959620|Orphanet:1675|DOID:14218|MedDRA:10052622|SCTID:77365006|NCIT:C84672|MESH:D054067 Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. SNOMEDCT:77365006|http://identifiers.org/omim/274270|MESH:D054067|MEDDRA:10052622|ORPHA:1675|DOID:14218|UMLS:C1959620|NCIT:C84672 http://purl.obolibrary.org/obo/MONDO_0010130 hereditary thymine-uraciluria|DYPD deficiency|familial pyrimidinaemia|thymine-Uraciluria, hereditary|dihydropyrimidine dehydrogenase deficiency|thymine-uracilurea|Dpyd deficiency|dihydrouracil dehydrogenase deficiency|DPD deficiency|5-fluorouracil toxicity|pyrimidinemia, familial|familial pyrimidinemia ordo_disease|gard_rare MONDO:0012790 amyotrophic lateral sclerosis type 10 biolink:Disease mondo OMIM:612069|DOID:0060201|GARD:0010497|UMLS:C3502417|MESH:C567429 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene. http://identifiers.org/omim/612069|MESH:C567429|UMLS:C3502417|DOID:0060201 http://purl.obolibrary.org/obo/MONDO_0012790 Ftld-TDP, Tardbp-related|amyotrophic lateral sclerosis 10, with or without frontotemporal dementia|ALS10|amyotrophic lateral sclerosis 10|frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related|TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions|frontotemporal dementia with Tdp43 inclusions, Tardbp-related|TARDBP amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 10 with or without frontotemporal dementia|amyotrophic lateral sclerosis 10 with or without frontotemporal dementia; ALS10|amyotrophic lateral sclerosis caused by mutation in TARDBP gard_rare GO:0051119 sugar transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of a sugar from one side of a membrane to the other. A sugar is any member of a class of sweet, water-soluble, crystallizable carbohydrates, which are the monosaccharides and smaller oligosaccharides. http://purl.obolibrary.org/obo/GO_0051119 sugar/polyol channel activity MONDO:0000711 obsolete amyotrophic lateral sclerosis type 13 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000711 MONDO:0000710 gastroduodenal Crohn disease biolink:Disease mondo DOID:0060191|ICD10:K50.0 An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite. DOID:0060191 http://purl.obolibrary.org/obo/MONDO_0000710 upper GI Crohn's disease|gastroduodenal Crohn's disease HGNC:4208 GCSH biolink:OntologyClass mondo http://identifiers.org/hgnc/4208 HGNC:11714 TEAD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11714 HGNC:11720 TECTA biolink:OntologyClass mondo http://identifiers.org/hgnc/11720 MONDO:0000709 Crohn ileitis biolink:Disease mondo NCIT:C35329|MedDRA:10021312|NDFRT:N0000001662|ICD9:558.9|UMLS:C0020877|SCTID:52457000|MESH:D007079|ICD10:K52.9|CSP:1248-5305|DOID:0060189 An Crohn disease involving a pathogenic inflammatory response in the ileum. DOID:0060189|SNOMEDCT:52457000|UMLS:C0020877|NCIT:C35329|MESH:D007079 http://purl.obolibrary.org/obo/MONDO_0000709 Crohn's ileitis|ileitis UBERON:0035956 epididymal lumen biolink:AnatomicalEntity mondo The lumen of the epididymis http://purl.obolibrary.org/obo/UBERON_0035956 epididymis lumen|lumen of epididymis MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia biolink:Disease mondo Orphanet:93610|UMLS:C1969038|OMIM:611590|ICD10:N25.8 Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. http://identifiers.org/omim/611590|UMLS:C1969038|ORPHA:93610 http://purl.obolibrary.org/obo/MONDO_0012700 renal tubular acidosis, distal, with hemolytic anemia|dRTA with anemia|distal renal tubular acidosis with anemia|RTA, distal, autosomal recessive, with hemolytic Anemia|renal tubular acidosis, distal, with normal Red cell morphology ordo_clinical_subtype HGNC:11724 TEK biolink:OntologyClass mondo http://identifiers.org/hgnc/11724 MONDO:0012701 cataract 12 multiple types biolink:Disease mondo OMIM:611597|ICD10:Q12.0|DOID:0110239|MESH:C566909 A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. http://identifiers.org/omim/611597|MESH:C566909|DOID:0110239 http://purl.obolibrary.org/obo/MONDO_0012701 cataract 12, multiple types|cataract 12, multiple types; CTRCT12|CTRCT12 MONDO:0000704 lymphocytic colitis biolink:Disease mondo DOID:0060184|UMLS:C0400822|MedDRA:10025268|GARD:0006939|ICD9:558.9|SCTID:31437008|MESH:D046730|NCIT:C27147|ICD10:K52.89|EFO:1001294|ICD10:K52.832|Orphanet:65279 Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. SNOMEDCT:31437008|MESH:D046730|UMLS:C0400822|DOID:0060184|NCIT:C27147|ORPHA:65279 http://purl.obolibrary.org/obo/MONDO_0000704 HGNC:4218 GDF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4218 MONDO:0000703 collagenous colitis biolink:Disease mondo NCIT:C27021|ICD10:K52.831|GARD:0006135|DOID:0060183|UMLS:C0238067|ICD9:558.9|MedDRA:10048928|Orphanet:36205|ICD10:K52.89|MESH:D046729|SCTID:19311003|EFO:1001293 A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. MESH:D046729|UMLS:C0238067|NCIT:C27021|SNOMEDCT:19311003|DOID:0060183|ORPHA:36205 http://purl.obolibrary.org/obo/MONDO_0000703 GO:0004807 triose-phosphate isomerase activity biolink:OntologyClass mondo Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate. http://purl.obolibrary.org/obo/GO_0004807 D-glyceraldehyde-3-phosphate ketol-isomerase activity|triose phosphate mutase activity|triosephosphate isomerase activity|D-glyceraldehyde-3-phosphate aldose-ketose-isomerase activity|triose phosphoisomerase activity|triosephosphate mutase activity|phosphotriose isomerase activity HGNC:4217 GDF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4217 MONDO:0000702 microscopic colitis biolink:Disease mondo MESH:D046728|DOID:0060182|UMLS:C0400821|Orphanet:58220|ICD9:558.9|NCIT:C38504|SCTID:235753003|EFO:1001295 Inflammation of the colon that is only apparent by microscopic examination. MESH:D046728|NCIT:C38504|ORPHA:58220|UMLS:C0400821|SNOMEDCT:235753003|DOID:0060182 http://purl.obolibrary.org/obo/MONDO_0000702 MONDO:0000701 ischemic colitis biolink:Disease mondo DOID:0060181|MESH:D017091|UMLS:C0162529|SCTID:30588004|ICD10:K55.9 Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature. UMLS:C0162529|SNOMEDCT:30588004|DOID:0060181|MESH:D017091 http://purl.obolibrary.org/obo/MONDO_0000701 colonic ischemia UBERON:0008342 intestinal villus of duodenum biolink:AnatomicalEntity mondo An intestinal villus in the duodenum. http://purl.obolibrary.org/obo/UBERON_0008342 UBERON:0008343 intestinal villus of jejunum biolink:AnatomicalEntity mondo An intestinal villus in the jejunum. http://purl.obolibrary.org/obo/UBERON_0008343 MONDO:0000708 Crohn jejunoileitis biolink:Disease mondo ICD10:K50.0|DOID:0060188 DOID:0060188 http://purl.obolibrary.org/obo/MONDO_0000708 jejunoileitis HGNC:4214 GDF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4214 MONDO:0000707 diversion colitis biolink:Disease mondo SCTID:51290000|ICD9:558.9|ICD10:K52|UMLS:C0267532|ICD9:558|DOID:0060187 A colitis which can occur as a complication of ileostomy or colostomy. UMLS:C0267532|SNOMEDCT:51290000|DOID:0060187 http://purl.obolibrary.org/obo/MONDO_0000707 UBERON:0008344 intestinal villus of ileum biolink:AnatomicalEntity mondo An intestinal villus in the ileum. http://purl.obolibrary.org/obo/UBERON_0008344 MONDO:0000706 chemical colitis biolink:Disease mondo ICD9:558.9|ICD10:K52|SCTID:72965009|ICD9:558|DOID:0060186 A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically. SNOMEDCT:72965009|DOID:0060186 http://purl.obolibrary.org/obo/MONDO_0000706 UBERON:0008345 ileal epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a ileum. http://purl.obolibrary.org/obo/UBERON_0008345 epithelium of ileum MONDO:0000705 Clostridium difficile colitis biolink:Disease mondo DOID:0060185|EFO:0009130|MedDRA:10009657|SCTID:423590009|MESH:D004761|ICD10:A04.7|NCIT:C35286 A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated. MESH:D004761|NCIT:C35286|DOID:0060185|SNOMEDCT:423590009 http://purl.obolibrary.org/obo/MONDO_0000705 C. diff infection|pseudomembranous colitis|Clostridioides difficile colitis (disease)|Clostridium difficile infection|Clostridioides difficile caused colitis (disease)|C. diff colitis UBERON:0008346 duodenal epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a duodenum. http://purl.obolibrary.org/obo/UBERON_0008346 epithelium of duodenum MONDO:0000722 non-syndromic synpolydactyly biolink:Disease mondo DOID:0060242 A synpolydactyly that is not part of a larger syndrome. DOID:0060242 http://purl.obolibrary.org/obo/MONDO_0000722 nonsyndromic synpolydactyly|synpolydactyly|isolated synpolydactyly|syndactyly type 2 MONDO:0000721 xanthinuria biolink:Disease mondo OMIMPS:278300|SCTID:190919008|ICD9:277.2 A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. SNOMEDCT:190919008 http://purl.obolibrary.org/obo/MONDO_0000721 GO:0051128 regulation of cellular component organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. http://purl.obolibrary.org/obo/GO_0051128 regulation of cellular component organisation|regulation of cell organisation|regulation of cellular component organization and biogenesis|regulation of cell organization MONDO:0000720 obsolete basal ganglia calcification biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000720 GO:0051129 negative regulation of cellular component organization biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. http://purl.obolibrary.org/obo/GO_0051129 negative regulation of cellular component organization and biogenesis|negative regulation of cell organisation|down-regulation of cell organization|down regulation of cell organization|inhibition of cell organization|downregulation of cell organization UBERON:0011980 crurotarsal joint biolink:AnatomicalEntity mondo A joint that connects the bones of the crus to the proximal tarsal bones http://purl.obolibrary.org/obo/UBERON_0011980 crurotarsal CHEBI:26155 plant growth regulator biolink:ChemicalSubstance mondo A chemical, natural or artificial, that can affect the rate of growth of a plant. http://purl.obolibrary.org/obo/CHEBI_26155 plant growth regulators HGNC:11727 TERC biolink:OntologyClass mondo http://identifiers.org/hgnc/11727 CHEBI:26151 piperidines biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26151 HGNC:4221 GDF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/4221 UBERON:0011977 epiphysis of proximal phalanx of manus biolink:AnatomicalEntity mondo An epiphysis that is part of a proximal phalanx of manus. http://purl.obolibrary.org/obo/UBERON_0011977 epiphysis of proximal phalanx of finger UBERON:0011976 epiphysis of distal phalanx of pes biolink:AnatomicalEntity mondo An epiphysis that is part of a distal phalanx of pes. http://purl.obolibrary.org/obo/UBERON_0011976 epiphysis of distal phalanx of toe UBERON:0008337 inguinal part of abdomen biolink:AnatomicalEntity mondo The external junctural region between the lower part of the abdomen and the thigh. http://purl.obolibrary.org/obo/UBERON_0008337 groin|inguen|iliac region|iliac fossa viewed surgically|groin area|inguinal region|inguinal region|iliac region|inguen|groin region UBERON:0035965 wall of blood vessel biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035965 blood vessel wall|vascular wall HGNC:11730 TERT biolink:OntologyClass mondo http://identifiers.org/hgnc/11730 HGNC:4220 GDF5 biolink:OntologyClass mondo http://identifiers.org/hgnc/4220 UBERON:0011975 epiphysis of middle phalanx of pes biolink:AnatomicalEntity mondo An epiphysis that is part of a middle phalanx of pes. http://purl.obolibrary.org/obo/UBERON_0011975 epiphysis of middle phalanx of toe UBERON:0008338 plantar part of pes biolink:AnatomicalEntity mondo The sole is the bottom of the foot. http://purl.obolibrary.org/obo/UBERON_0008338 plantar region|sole of foot|sole of the foot|pelma|planta|sole|planta|regio plantaris|soles of the feet|plantar part of foot|sole of foot UBERON:0011974 epiphysis of proximal phalanx of pes biolink:AnatomicalEntity mondo An epiphysis that is part of a proximal phalanx of pes. http://purl.obolibrary.org/obo/UBERON_0011974 epiphysis of proximal phalanx of toe UBERON:0008339 microvascular endothelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0008339 HGNC:6888 MAPKAPK3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6888 UBERON:0011979 epiphysis of distal phalanx of manus biolink:AnatomicalEntity mondo An epiphysis that is part of a distal phalanx of manus. http://purl.obolibrary.org/obo/UBERON_0011979 epiphysis of distal phalanx of finger HGNC:11733 TEX11 biolink:OntologyClass mondo http://identifiers.org/hgnc/11733 UBERON:0011978 epiphysis of middle phalanx of manus biolink:AnatomicalEntity mondo An epiphysis that is part of a middle phalanx of manus. http://purl.obolibrary.org/obo/UBERON_0011978 epiphysis of middle phalanx of finger MONDO:0000715 lymph node adenoid cystic carcinoma biolink:Disease mondo DOID:0060219 A adenoid cystic carcinoma that involves the lymph node. DOID:0060219 http://purl.obolibrary.org/obo/MONDO_0000715 lymph node adenoid cystic cancer|lymph node adenoid cystic carcinoma MONDO:0000714 obsolete crest syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000714 MONDO:0000713 obsolete Balo concentric sclerosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000713 MONDO:0000712 obsolete FTDALS biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000712 HGNC:4226 GDI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4226 UBERON:0008331 clitoral smooth muscle biolink:AnatomicalEntity mondo A smooth muscle tissue that is part of a clitoris. http://purl.obolibrary.org/obo/UBERON_0008331 clitoris smooth muscle MONDO:0000719 obsolete Baraitser-winter syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000719 MONDO:0000718 obsolete Adams-Oliver syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000718 MONDO:0000717 obsolete acrofrontofacionasal dysostosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000717 HGNC:6882 MAPK8IP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6882 HGNC:4223 MSTN biolink:OntologyClass mondo http://identifiers.org/hgnc/4223 MONDO:0000716 agraphia biolink:Disease mondo DOID:0060223|ICD10:R48.8 An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. DOID:0060223 http://purl.obolibrary.org/obo/MONDO_0000716 UBERON:0011973 epiphysis of phalanx of pes biolink:AnatomicalEntity mondo An epiphysis that is part of a phalanx of a pes [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0011973 epiphysis of phalanx of toe UBERON:0011972 medial ligament of ankle joint biolink:AnatomicalEntity mondo A skeletal ligament that connects a tibia and connects a tarsal skeleton. http://purl.obolibrary.org/obo/UBERON_0011972 medial collateral ligament of ankle joint|ligamentum deltoideum|ligamentum collaterale mediale articulationis talocruralis|ligamentum deltoideum (articulatio talocruralis)|deltoid collateral ligament of ankle joint|ligamentum collaterale mediale (articulatio talocruralis)|deltoid ligament of ankle joint UBERON:0011971 calcaneofibular ligament biolink:AnatomicalEntity mondo A skeletal ligament that connects the fibula to the calcaneus http://purl.obolibrary.org/obo/UBERON_0011971 ligamentum calcaneofibulare HGNC:4232 GDNF biolink:OntologyClass mondo http://identifiers.org/hgnc/4232 CHEBI:38106 organosulfur heterocyclic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compounds|heterocyclic organosulfur compounds NCBITaxon:2044726 Dioctophymatida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2044726 CHEBI:38104 oxacycle biolink:ChemicalSubstance mondo Any organic heterocyclic compound containing at least one ring oxygen atom. http://purl.obolibrary.org/obo/CHEBI_38104 oxacycles|heterocyclic organooxygen compounds|organooxygen heterocyclic compounds HGNC:6898 MARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6898 UBERON:0011968 radio-carpal joint biolink:AnatomicalEntity mondo A skeletal joint that connects a radius bone and connects a carpal skeleton. http://purl.obolibrary.org/obo/UBERON_0011968 articulatio radiocarpea|radiocarpal articulation|wrist joint|radiocarpal joint GO:0051130 positive regulation of cellular component organization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. http://purl.obolibrary.org/obo/GO_0051130 positive regulation of cell organisation|up-regulation of cell organization|up regulation of cell organization|activation of cell organization|stimulation of cell organization|upregulation of cell organization|positive regulation of cellular component organization and biogenesis HGNC:4238 GFI1B biolink:OntologyClass mondo http://identifiers.org/hgnc/4238 HGNC:4237 GFI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4237 HGNC:4236 GFER biolink:OntologyClass mondo http://identifiers.org/hgnc/4236 HGNC:6891 MAPRE2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6891 HGNC:4235 GFAP biolink:OntologyClass mondo http://identifiers.org/hgnc/4235 CHEBI:38101 organonitrogen heterocyclic compound biolink:ChemicalSubstance mondo Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms. http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compounds|heterocyclic organonitrogen compounds HGNC:6893 MAPT biolink:OntologyClass mondo http://identifiers.org/hgnc/6893 UBERON:0008324 erectile tissue biolink:AnatomicalEntity mondo with numerous vascular spaces that may become engorged with blood http://purl.obolibrary.org/obo/UBERON_0008324 GO:0051148 negative regulation of muscle cell differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation. http://purl.obolibrary.org/obo/GO_0051148 inhibition of muscle cell differentiation|downregulation of muscle cell differentiation|down-regulation of muscle cell differentiation|down regulation of muscle cell differentiation GO:0051149 positive regulation of muscle cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of muscle cell differentiation. http://purl.obolibrary.org/obo/GO_0051149 up-regulation of muscle cell differentiation|up regulation of muscle cell differentiation|activation of muscle cell differentiation|stimulation of muscle cell differentiation|upregulation of muscle cell differentiation GO:0051146 striated muscle cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle. http://purl.obolibrary.org/obo/GO_0051146 voluntary muscle cell differentiation GO:0051147 regulation of muscle cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of muscle cell differentiation. http://purl.obolibrary.org/obo/GO_0051147 MONDO:0000700 familial hemiplegic migraine biolink:Disease mondo OMIMPS:141500|NCIT:C117009|ICD9:346.8|GARD:0010975|DOID:0060178|ICD10:G43.8|SCTID:95656000 A migraine disorder characterized by individual and family history of aura that includes motor weakness. NCIT:C117009|SNOMEDCT:95656000|DOID:0060178 http://purl.obolibrary.org/obo/MONDO_0000700 FHM|hereditary hemiplegic migraine|hemiplegic-ophthalmoplegic migraine|hemiplegic migraine, familial HGNC:11708 TDO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11708 UBERON:0011960 articular capsule of glenohumeral joint biolink:AnatomicalEntity mondo An articular capsule that is part of the glenohumeral joint. http://purl.obolibrary.org/obo/UBERON_0011960 fibrous capsule of glenohumeral joint|capsule of shoulder joint|articular capsule of humerus|glenohumeral joint capsule|articular capsule of shoulder joint UBERON:0011955 left hepatic vein biolink:AnatomicalEntity mondo A hepatic vein that is part of a left lobe of liver. http://purl.obolibrary.org/obo/UBERON_0011955 HGNC:4241 GFPT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4241 UBERON:0011953 stomach glandular region biolink:AnatomicalEntity mondo A region of the stomach that is lined with glandular epithelium. http://purl.obolibrary.org/obo/UBERON_0011953 glandular stomach UBERON:0011956 right hepatic vein biolink:AnatomicalEntity mondo A hepatic vein that is part of a right lobe of liver. http://purl.obolibrary.org/obo/UBERON_0011956 UBERON:0008310 nasopharyngeal gland biolink:AnatomicalEntity mondo A gland that is part of a nasopharynx. http://purl.obolibrary.org/obo/UBERON_0008310 HGNC:4247 GGCX biolink:OntologyClass mondo http://identifiers.org/hgnc/4247 NCBITaxon:90964 Staphylococcaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_90964 Staphylococcus group MONDO:0000751 cervical polyp (disease) biolink:Disease mondo UMLS:C0007855|ICD10:D26.9|UMLS:C0347493|SCTID:65576009|ICD9:219|HP:0030159|COHD:4280498|NCIT:C2939|DOID:0060325|ICD10:D26 A polyp that arises from the surface of the cervix. DOID:0060325|UMLS:C0007855|SNOMEDCT:65576009|UMLS:C0347493|NCIT:C2939 http://purl.obolibrary.org/obo/MONDO_0000751 polyp of cervix|adenomatous polyp of cervix|cervical polyp|polyp of the cervix|adenomatous polyp of the cervix|polyp of cervix uteri|adenomatous polyp of uterine cervix|polyp of uterine cervix|polyp of the cervix uteri|adenomatous polyp of the uterine cervix|polyp of the uterine cervix|uterine cervix polyp|cervix polyp|cervix adenomatous polyp|cervix uteri adenomatous polyp|cervix uteri polyp|uterine cervix adenomatous polyp MONDO:0000750 dental abscess biolink:Disease mondo SCTID:299709002|DOID:0060324|ICD10:K04.6|UMLS:C0518988 A tooth disease characterized by a localized collection of pus associated with a tooth. DOID:0060324|UMLS:C0518988|SNOMEDCT:299709002 http://purl.obolibrary.org/obo/MONDO_0000750 HP:0001929 Reduced factor XI activity biolink:PhenotypicFeature mondo UMLS:C0015523|MSH:D005173|SNOMEDCT_US:49762007 Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. http://purl.obolibrary.org/obo/HP_0001929 Low factor XI activity|Factor XI deficiency MONDO:0000755 ectopic pregnancy biolink:Disease mondo GARD:0006318|ICD9:633.9|ICD10:O00.9|ICD9:633.8|ICD9:633.90|MESH:D011271|DOID:0060329|NCIT:C34945|ICD10:O00|ICD9:633|SCTID:34801009 An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. SNOMEDCT:34801009|MESH:D011271|NCIT:C34945|DOID:0060329 http://purl.obolibrary.org/obo/MONDO_0000755 extrauterine pregnancy|pregnancy, ectopic|eccyesis gard_rare MONDO:0000754 anal fistula (disease) biolink:Disease mondo ICD10:K60.3|SCTID:72779005|HP:0010447|NCIT:C60785|DOID:0060328|MESH:D012003 A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess. DOID:0060328|NCIT:C60785|SNOMEDCT:72779005|MESH:D012003 http://purl.obolibrary.org/obo/MONDO_0000754 anorectal fistula|anal fistula MONDO:0000753 obsolete omphalocele biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000753 MONDO:0000752 obsolete myelomeningocele biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000752 MONDO:0012737 long QT syndrome 10 biolink:Disease mondo MESH:C567514|OMIM:611819|DOID:0110651|ICD10:I45.8|UMLS:C2678484|GARD:0010436 Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene. MESH:C567514|http://identifiers.org/omim/611819|DOID:0110651|UMLS:C2678484 http://purl.obolibrary.org/obo/MONDO_0012737 long QT syndrome type 10|atrial fibrillation, familial, 17|long QT syndrome 10|long QT syndrome 10; LQT10|long QT syndrome caused by mutation in SCN4B|LQT10|SCN4B long QT syndrome gard_rare MONDO:0012738 long QT syndrome 11 biolink:Disease mondo OMIM:611820|MESH:C567513|UMLS:C2678483|DOID:0110652|ICD10:I45.8|GARD:0010437 Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene. MESH:C567513|http://identifiers.org/omim/611820|DOID:0110652|UMLS:C2678483 http://purl.obolibrary.org/obo/MONDO_0012738 long QT syndrome caused by mutation in AKAP9|LQT11|long QT syndrome type 11|long QT syndrome 11|long QT syndrome 11; LQT11|AKAP9 long QT syndrome gard_rare HP:0001924 Sideroblastic anemia biolink:PhenotypicFeature mondo MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896 Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). http://purl.obolibrary.org/obo/HP_0001924 Sideroblastic anaemia|Hypersideremic anemia MONDO:0012735 Temple-Baraitser syndrome biolink:Disease mondo EFO:0009062|OMIM:611816|Orphanet:420561|UMLS:C2678486|ICD10:Q87.2|MESH:C567516|GARD:0009441 Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. http://identifiers.org/omim/611816|ORPHA:420561|UMLS:C2678486|MESH:C567516 http://purl.obolibrary.org/obo/MONDO_0012735 severe mental retardation and absent nails of hallux and pollex|severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|intellectual disability, severe, and absent nails of hallux and pollex|severe intellectual disability and absent nails of hallux and pollex|TMBTS|Temple-Baraitser syndrome; TMBTS|Temple-Baraitser syndrome|mental retardation, severe, and absent nails of hallux and pollex ordo_disease NCBITaxon:652611 Pseudomonas aeruginosa PA14 organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_652611 Pseudomonas aeruginosa str. PA14|Pseudomonas aeruginosa strain PA14 MONDO:0012736 long QT syndrome 9 biolink:Disease mondo ICD10:I45.8|DOID:0110650|OMIM:611818|MESH:C567515|GARD:0010435 Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene. MESH:C567515|http://identifiers.org/omim/611818|DOID:0110650 http://purl.obolibrary.org/obo/MONDO_0012736 long QT syndrome 9; LQT9|long QT syndrome type 9|long QT syndrome 9|CAV3 long QT syndrome|long QT syndrome caused by mutation in CAV3|long QT syndrome 2/9, digenic|LQT9|long QT syndrome 9, acquired, susceptibility to gard_rare HP:0001927 Acanthocytosis biolink:PhenotypicFeature mondo SNOMEDCT_US:250249008|UMLS:C0687751 Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. http://purl.obolibrary.org/obo/HP_0001927 Acanthocytes|Red cell acanthocytosis hposlim_core HP:0001928 Abnormality of coagulation biolink:PhenotypicFeature mondo SNOMEDCT_US:362970003|MSH:D006474|UMLS:C1846821|SNOMEDCT_US:64779008|MSH:D001778|UMLS:C0019087|UMLS:C0005779 An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. http://purl.obolibrary.org/obo/HP_0001928 Abnormal blood coagulation studies|Blood coagulation disorder|Coagulation abnormality|Coagulation abnormalities|Haemorrhagic disorders MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome biolink:Disease mondo MESH:C567512|Orphanet:139450|ICD10:Q15.8|OMIM:611863|UMLS:C2678482|GARD:0010300 This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. MESH:C567512|http://identifiers.org/omim/611863|ORPHA:139450|UMLS:C2678482 http://purl.obolibrary.org/obo/MONDO_0012739 microtia eye coloboma and imperforation of the nasolacrimal duct|Balikova-Vermeesch syndrome|microtia with nasolacrimal duct imperforation and eye coloboma ordo_malformation_syndrome MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal biolink:Disease mondo UMLS:C2678480|UMLS:C4518343|SCTID:734029004|Orphanet:261330|ICD10:Q93.5|DOID:0060413|OMIM:611867|MESH:C567511 Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours. DOID:0060413|SNOMEDCT:734029004|UMLS:C4518343|UMLS:C2678480|ORPHA:261330|MESH:C567511|http://identifiers.org/omim/611867 http://purl.obolibrary.org/obo/MONDO_0012740 chromosome 22q11.2 deletion syndrome, distal|distal monosomy 22q11.2|distal del(22)(q11.2)|distal 22q11.2 microdeletion syndrome|distal chromosome 22Q11.2 deletion syndrome ordo_malformation_syndrome MONDO:0012741 prostate cancer, hereditary, 12 biolink:Disease mondo MESH:C567510|OMIM:611868|UMLS:C2678479 Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene. http://identifiers.org/omim/611868|UMLS:C2678479|MESH:C567510 http://purl.obolibrary.org/obo/MONDO_0012741 prostate cancer, hereditary, 12|prostate cancer, hereditary, 12; HPC12|HPC12|EHBP1 familial prostate cancer|prostate cancer, hereditary, type 12|familial prostate cancer caused by mutation in EHBP1 MONDO:0012744 dilated cardiomyopathy 1Y biolink:Disease mondo DOID:0110457|ICD10:I42.0|MESH:C567507|OMIM:611878 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. http://identifiers.org/omim/611878|DOID:0110457|MESH:C567507 http://purl.obolibrary.org/obo/MONDO_0012744 dilated cardiomyopathy type 1Y|CMD1Y|cardiomyopathy, dilated, type 1Y|cardiomyopathy, dilated, 1Y|cardiomyopathy, dilated, 1Y; CMD1Y|familial isolated dilated cardiomyopathy caused by mutation in TPM1|left ventricular noncompaction 9|TPM1 familial isolated dilated cardiomyopathy HGNC:4250 GGT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4250 HP:0001920 Renal artery stenosis biolink:PhenotypicFeature mondo UMLS:C0035067|SNOMEDCT_US:302233006|SNOMEDCT_US:282664001|MSH:D012078|Fyler:2634 The presence of stenosis of the renal artery. http://purl.obolibrary.org/obo/HP_0001920 Narrowing of kidney artery MONDO:0012745 dilated cardiomyopathy 1Z biolink:Disease mondo UMLS:C2678475|DOID:0110434|ICD10:I42.0|OMIM:611879|MESH:C567506 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. http://identifiers.org/omim/611879|DOID:0110434|UMLS:C2678475|MESH:C567506 http://purl.obolibrary.org/obo/MONDO_0012745 TNNC1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in TNNC1|CMD1Z|dilated cardiomyopathy type 1Z|cardiomyopathy, dilated, type 1Z|cardiomyopathy, dilated, 1Z|cardiomyopathy, dilated, 1Z; CMD1Z MONDO:0012742 Brugada syndrome 3 biolink:Disease mondo OMIM:611875|ICD10:I49.8|GARD:0010361|MESH:C567509|DOID:0110220|UMLS:C2678478 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene. http://identifiers.org/omim/611875|DOID:0110220|UMLS:C2678478|MESH:C567509 http://purl.obolibrary.org/obo/MONDO_0012742 Brugada syndrome 3|CACNA1C Brugada syndrome|Brugada syndrome type 3|Brugada syndrome caused by mutation in CACNA1C|Brugada syndrome 3; BRGDA3|BRGDA3 gard_rare MONDO:0012743 Brugada syndrome 4 biolink:Disease mondo ICD10:I49.8|GARD:0010362|DOID:0110221|MESH:C567508|UMLS:C2678477|OMIM:611876 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene. DOID:0110221|http://identifiers.org/omim/611876|UMLS:C2678477|MESH:C567508 http://purl.obolibrary.org/obo/MONDO_0012743 Brugada syndrome caused by mutation in CACNB2|Brugada syndrome 4|CACNB2 Brugada syndrome|Brugada syndrome type 4|BRGDA4|Brugada syndrome 4; BRGDA4 gard_rare MONDO:0000748 mastoiditis (disease) biolink:Disease mondo ICD10:H70.90|COHD:374655|NCIT:C128368|SCTID:52404001|ICD9:383.9|DOID:0060322|HP:0000265|UMLS:C0024904|ICD10:H70.9|MESH:D008417 Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process. NCIT:C128368|MESH:D008417|DOID:0060322|UMLS:C0024904|SNOMEDCT:52404001 http://purl.obolibrary.org/obo/MONDO_0000748 mastoiditis|inflammation of mastoid process of temporal bone|mastoid process of temporal bone inflammation|mastoid process of temporal boneitis MONDO:0024715 benign synovial neoplasm biolink:Disease mondo NCIT:C3829|UMLS:C0221289|ICDO:9040/0 A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath. UMLS:C0221289|NCIT:C3829 http://purl.obolibrary.org/obo/MONDO_0024715 synovium neoplasm, benign|synovioma, benign|benign synovial tumor|benign tumor of synovium|benign tumor of the synovium|benign synovioma|benign synovium neoplasm|benign neoplasm of synovium|benign neoplasm of the synovium|benign synovial neoplasm MONDO:0000747 obsolete umbilical hernia biolink:Disease mondo COHD:4245842|DOID:0060321|NCIT:C118375|ICD9:756.72|ICD9:553.1|UMLS:C0019322|SCTID:396347007|MESH:D006554|HP:0001537|ICD10:Q79.2 A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. SNOMEDCT:396347007|UMLS:C0019322|MESH:D006554|DOID:0060321|NCIT:C118375 http://purl.obolibrary.org/obo/MONDO_0000747 MONDO:0000746 obsolete inguinal hernia biolink:Disease mondo HP:0000023|SCTID:396232000|MESH:D006552|NCIT:C34690|COHD:4288544|DOID:0060320|ICD9:550.90|ICD10:K40.90|ICD10:K40|ICD9:550 The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. NCIT:C34690|MESH:D006552|DOID:0060320|SNOMEDCT:396232000 http://purl.obolibrary.org/obo/MONDO_0000746 MONDO:0000745 cardiac arrest biolink:Disease mondo ICD10:I46|ICD9:427.5|MESH:D006323|COHD:321042|DOID:0060319|UMLS:C0018790|SCTID:410429000|UMLS:C0444720 Cessation of breathing and/or cardiac function. NCIT:C50483|NCIT:C50479|MESH:D006323|SNOMEDCT:410429000|DOID:0060319|UMLS:C0444720|UMLS:C0018790 http://purl.obolibrary.org/obo/MONDO_0000745 cardiopulmonary arrest|circulatory arrest GO:0051155 positive regulation of striated muscle cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation. http://purl.obolibrary.org/obo/GO_0051155 upregulation of striated muscle cell differentiation|up regulation of striated muscle cell differentiation|stimulation of striated muscle cell differentiation|up-regulation of striated muscle cell differentiation|activation of striated muscle cell differentiation GO:0051153 regulation of striated muscle cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of striated muscle cell differentiation. http://purl.obolibrary.org/obo/GO_0051153 MONDO:0000749 breast abscess biolink:Disease mondo DOID:0060323|SCTID:28432003|UMLS:C0151463 A breast disease characterized by a collection of pus in the breast. UMLS:C0151463|SNOMEDCT:28432003|DOID:0060323 http://purl.obolibrary.org/obo/MONDO_0000749 GO:0051154 negative regulation of striated muscle cell differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation. http://purl.obolibrary.org/obo/GO_0051154 inhibition of striated muscle cell differentiation|down-regulation of striated muscle cell differentiation|downregulation of striated muscle cell differentiation|down regulation of striated muscle cell differentiation MONDO:0000762 syndrome caused by partial chromosomal duplication biolink:Disease mondo DOID:0060429 DOID:0060429 http://purl.obolibrary.org/obo/MONDO_0000762 chromosomal duplication syndrome MONDO:0000761 syndrome caused by partial chromosomal deletion biolink:Disease mondo DOID:0060388 DOID:0060388 http://purl.obolibrary.org/obo/MONDO_0000761 chromosomal deletion syndrome MONDO:0000760 obsolete acrofacial dysostosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000760 MONDO:0000766 corneal endothelial dystrophy biolink:Disease mondo DOID:0060443|ICD9:371.57|COHD:443740|SCTID:416960004 A corneal dystrophy (disease) that involves the corneal epithelium. DOID:0060443|SNOMEDCT:416960004 http://purl.obolibrary.org/obo/MONDO_0000766 corneal epithelium corneal dystrophy (disease)|endothelial dystrophy|corneal dystrophy (disease) of corneal epithelium MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney biolink:Disease mondo NCIT:C37265|UMLS:C1334602 A mixed epithelial stromal tumor of the kidney with malignant stromal features. NCIT:C37265|UMLS:C1334602 http://purl.obolibrary.org/obo/MONDO_0024711 malignant mixed epithelial stromal tumor of the kidney|mixed epithelial stromal tumor of the kidney, malignant|malignant MEST MONDO:0000765 obsolete corneal stromal dystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000765 MONDO:0000764 epithelial-stromal TGFBI dystrophy biolink:Disease mondo DOID:0060441 Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene. DOID:0060441 http://purl.obolibrary.org/obo/MONDO_0000764 corneal dystrophy (disease) caused by mutation in TGFBI|TGFBI corneal dystrophy (disease) MONDO:0000763 epithelial and subepithelial corneal dystrophy biolink:Disease mondo DOID:0060440 DOID:0060440 http://purl.obolibrary.org/obo/MONDO_0000763 epithelial and subepithelial dystrophy MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome biolink:Disease mondo OMIM:611773|GARD:0010889|Orphanet:73229|SCTID:702428000|ICD9:758.89|MESH:C567088|UMLS:C2673195|ICD10:I99 Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. MESH:C567088|ORPHA:73229|SNOMEDCT:702428000|http://identifiers.org/omim/611773|UMLS:C2673195 http://purl.obolibrary.org/obo/MONDO_0012726 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps|HANAC syndrome|hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome|HANAC|hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; HANAC ordo_disease MONDO:0012727 mucocutaneous lymph node syndrome biolink:Disease mondo Orphanet:2331|SCTID:75053002|MedDRA:10023320|UMLS:C0026691|GARD:0006816|OMIM:611775|MESH:D009080|EFO:0004246|DOID:13378|NCIT:C34825|ICD10:M30.3|ICD9:446.1 Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. MESH:D009080|ORPHA:2331|MEDDRA:10023320|UMLS:C0026691|http://identifiers.org/omim/611775|NCIT:C34825|DOID:13378|SNOMEDCT:75053002 http://purl.obolibrary.org/obo/MONDO_0012727 acute febrile mucocutaneous lymph node syndrome|acute febrile mucocutaneous lymph node syndrome [MCLS]|MLNS|Kd|Kawasaki disease|acute febrile MCLS|infantile polyarteritis|mucocutaneous lymph node syndrome|Kawasaki syndrome|Kawasaki's disease|infantile polyarteritis nodosa ordo_disease HP:0001935 Microcytic anemia biolink:PhenotypicFeature mondo UMLS:C0085576|SNOMEDCT_US:234349007|MSH:C562385 A kind of anemia in which the volume of the red blood cells is reduced. http://purl.obolibrary.org/obo/HP_0001935 Microcytic anaemia MONDO:0012724 familial cold autoinflammatory syndrome 2 biolink:Disease mondo OMIM:611762|ICD10:E85.0|MESH:C567090|UMLS:C2673198|UMLS:C3897034|Orphanet:247868|DOID:0090063|NCIT:C119043 An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month. http://identifiers.org/omim/611762|UMLS:C3897034|DOID:0090063|UMLS:C2673198|NCIT:C119043|ORPHA:247868|MESH:C567090 http://purl.obolibrary.org/obo/MONDO_0012724 NLRP12 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome 2|NALP12-associated hereditary periodic fever syndrome|familial cold autoinflammatory syndrome caused by mutation in NLRP12|familial cold autoinflammatory syndrome 2; FCAS2|NAPS12|familial cold autoinflammatory syndrome type 2|NLRP12-associated hereditary periodic fever syndrome|FCAS2 ordo_disease MONDO:0012725 lipoprotein glomerulopathy biolink:Disease mondo SCTID:446923008|OMIM:611771|ICD10:N07.8|Orphanet:329481|UMLS:C2673196|MESH:C567089|ICD9:272.8|ICD9:593.89 ORPHA:329481|http://identifiers.org/omim/611771|UMLS:C2673196|SNOMEDCT:446923008|MESH:C567089 http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy; LPG|lipoprotein glomerulopathy|LPG ordo_disease HP:0001933 Subcutaneous hemorrhage biolink:PhenotypicFeature mondo UMLS:C0854107 This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). http://purl.obolibrary.org/obo/HP_0001933 Bleeding below the skin|Subcutaneous haemorrhage HP:0001939 Abnormality of metabolism/homeostasis biolink:PhenotypicFeature mondo UMLS:C4021768 http://purl.obolibrary.org/obo/HP_0001939 Metabolism abnormality|Laboratory abnormality MONDO:0012728 Brugada syndrome 2 biolink:Disease mondo ICD10:I49.8|DOID:0110219|UMLS:C2673193|MESH:C567087|OMIM:611777 Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene. MESH:C567087|http://identifiers.org/omim/611777|DOID:0110219|UMLS:C2673193 http://purl.obolibrary.org/obo/MONDO_0012728 Brugada syndrome caused by mutation in GPD1L|Brugada syndrome 2; BRGDA2|GPD1L Brugada syndrome|Brugada syndrome type 2|Brugada syndrome 2|BRGDA2 MONDO:0012729 erythrocytosis, familial, 4 biolink:Disease mondo OMIM:611783|UMLS:C2673187|MESH:C567086|DOID:0080339 Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene. MESH:C567086|DOID:0080339|http://identifiers.org/omim/611783|UMLS:C2673187 http://purl.obolibrary.org/obo/MONDO_0012729 erythrocytosis, familial, type 4|familial polycythemia caused by mutation in EPAS1|erythrocytosis, familial, 4; ECYT4|ECYT4|EPAS1 familial polycythemia|erythrocytosis, familial, 4 MONDO:0012730 aortic aneurysm, familial thoracic 6 biolink:Disease mondo MESH:C567085|UMLS:C2673186|OMIM:611788 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene. http://identifiers.org/omim/611788|UMLS:C2673186|MESH:C567085 http://purl.obolibrary.org/obo/MONDO_0012730 aortic aneurysm, familial thoracic 6; AAT6|AAT6|ACTA2 familial thoracic aortic aneurysm and aortic dissection|familial thoracic aortic aneurysm with livedo reticularis and iris flocculi|familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2|aortic aneurysm, familial thoracic 6|aortic aneurysm, familial thoracic type 6 HGNC:4263 GHR biolink:OntologyClass mondo http://identifiers.org/hgnc/4263 MONDO:0012733 autosomal recessive bestrophinopathy biolink:Disease mondo SCTID:723828008|DOID:0050662|UMLS:C3888198|UMLS:C2678493|Orphanet:139455|MESH:C567518|OMIM:611809|ICD10:H35.5 Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). http://identifiers.org/omim/611809|DOID:0050662|SNOMEDCT:723828008|ORPHA:139455|UMLS:C2678493|UMLS:C3888198|MESH:C567518 http://purl.obolibrary.org/obo/MONDO_0012733 bestrophinopathy, autosomal recessive; ARB|bestrophinopathy, autosomal recessive|retinopathy, Burgess-Black type|ARB|bestrophinopathy ordo_disease HGNC:4261 GH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4261 HP:0001931 Hypochromic anemia biolink:PhenotypicFeature mondo MSH:D000747|UMLS:C0002884|SNOMEDCT_US:44452003 A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. http://purl.obolibrary.org/obo/HP_0001931 Hypochromic anaemia MONDO:0012734 SERKAL syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C2678492|GARD:0010302|Orphanet:139466|NCIT:C123726|OMIM:611812|SCTID:723720008|MESH:C567517 SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. http://identifiers.org/omim/611812|ORPHA:139466|UMLS:C2678492|NCIT:C123726|SNOMEDCT:723720008|MESH:C567517 http://purl.obolibrary.org/obo/MONDO_0012734 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs; SERKAL|46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs|46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs|Sex reversion-kidneys, adrenal and lung dysgenesis syndrome|SERKAL syndrome|SERKAL ordo_malformation_syndrome MONDO:0012731 elliptocytosis 1 biolink:Disease mondo MESH:C567520|UMLS:C2678497|OMIM:611804 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene. http://identifiers.org/omim/611804|UMLS:C2678497|MESH:C567520 http://purl.obolibrary.org/obo/MONDO_0012731 Protein 4.1 of erythrocyte Membrane, defect of|elliptocytosis 1; EL1|elliptocytosis, Rhesus-linked type|elliptocytosis type 1|EPB41 hereditary elliptocytosis|EL1|hereditary elliptocytosis caused by mutation in EPB41|4.1-minus trait|elliptocytosis 1|4.1- trait MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus biolink:Disease mondo OMIM:611808|MESH:C567519|UMLS:C2678494 http://identifiers.org/omim/611808|UMLS:C2678494|MESH:C567519 http://purl.obolibrary.org/obo/MONDO_0012732 ETINPH|tremor, hereditary essential, and idiopathic normal pressure hydrocephalus; ETINPH|tremor, hereditary essential, and idiopathic normal pressure hydrocephalus UBERON:0035927 sulcus of parietal lobe biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035927 parietal lobe sulci|parietal lobe sulcus|PLs MONDO:0000759 obsolete acrorenal syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000759 MONDO:0000758 bacillary angiomatosis biolink:Disease mondo UMLS:C0085434|MESH:D016917|DOID:0060345|SCTID:58213005|NCIT:C3477|ICD9:083.8 A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals. DOID:0060345|NCIT:C3477|SNOMEDCT:58213005|MESH:D016917|UMLS:C0085434 http://purl.obolibrary.org/obo/MONDO_0000758 Bartonella angiomatosis|bacillary epithelioid Angiomatoses|angiomatoses, epithelioid|Bartonella caused angiomatosis|bacillary angiomatosis|bacillary Angiomatoses|angiomatoses, bacillary|angiomatosis, bacillary epithelioid|epithelioid angiomatosis, bacillary|epithelioid angiomatosis|epithelioid Angiomatoses|angiomatosis, epithelioid|bacillary epithelioid angiomatosis|epithelioid Angiomatoses, bacillary|angiomatoses, bacillary epithelioid MONDO:0000757 glucocorticoid-induced osteoporosis biolink:Disease mondo DOID:0060343 An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. DOID:0060343 http://purl.obolibrary.org/obo/MONDO_0000757 steroid-induced osteoporosis MONDO:0000756 parameningeal embryonal rhabdomyosarcoma biolink:Disease mondo DOID:0060338 An embryonal rhabdomyosarcoma located in the parameningeal region. DOID:0060338 http://purl.obolibrary.org/obo/MONDO_0000756 HGNC:4268 CBLIF biolink:OntologyClass mondo http://identifiers.org/hgnc/4268 HGNC:4266 GHRHR biolink:OntologyClass mondo http://identifiers.org/hgnc/4266 HP:0001909 Leukemia biolink:PhenotypicFeature mondo SNOMEDCT_US:269475001|UMLS:C0376545|MSH:D019337|SNOMEDCT_US:93143009|SNOMEDCT_US:87163000|SNOMEDCT_US:129154003|MSH:D007938|UMLS:C0023418 A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. http://purl.obolibrary.org/obo/HP_0001909 Blood cancer|Leukaemia GO:0051179 localization biolink:OntologyClass mondo Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. http://purl.obolibrary.org/obo/GO_0051179 single-organism localization|single organism localization|establishment and maintenance of cellular component location|establishment and maintenance of substance location|establishment and maintenance of substrate location|establishment and maintenance of localization|establishment and maintenance of position|localisation HP:0001907 Thromboembolism biolink:PhenotypicFeature mondo SNOMEDCT_US:371039008|UMLS:C0085307|MSH:D013923|SNOMEDCT_US:13713005|UMLS:C0040038|MSH:D016769 The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. http://purl.obolibrary.org/obo/HP_0001907 Embolism and thrombosis|Thromboembolic disease|Blood clot in blood vessel|Thromboembolic events MONDO:0000733 cornea plana biolink:Disease mondo DOID:0060287|SCTID:204145006|HP:0007720|ICD10:Q13.4|OMIMPS:121400 SNOMEDCT:204145006|DOID:0060287 http://purl.obolibrary.org/obo/MONDO_0000733 flat cornea MONDO:0000732 combined oxidative phosphorylation deficiency biolink:Disease mondo OMIMPS:609060|GARD:0012893|DOID:0060286 A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes. DOID:0060286 http://purl.obolibrary.org/obo/MONDO_0000732 gard_rare MONDO:0000731 obsolete peeling skin syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000731 MONDO:0000730 obsolete pontocerebellar hypoplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000730 MONDO:0012715 MGR12 biolink:Disease mondo OMIM:611706 http://identifiers.org/omim/611706 http://purl.obolibrary.org/obo/MONDO_0012715 migraine with or without aura, susceptibility to, 12|MGR12|migraine with or without aura, susceptibility to, 12; MGR12 predisposition MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type biolink:Disease mondo GARD:0010629|Orphanet:163654|MESH:C567128|UMLS:C2673649|OMIM:611717|SCTID:718765003|ICD10:Q77.7 Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). MESH:C567128|http://identifiers.org/omim/611717|ORPHA:163654|UMLS:C2673649|SNOMEDCT:718765003 http://purl.obolibrary.org/obo/MONDO_0012716 Sed-BDS|fantasy Island syndrome|SED-BDS|spondyloepiphyseal dysplasia-brachydactyly and distinctive speech|tattoo dysplasia|Tatoo dysplasia|spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome ordo_disease MONDO:0012713 spondylometaphyseal dysplasia, East African type biolink:Disease mondo OMIM:611702|MESH:C535796|GARD:0004992|UMLS:C2673686 http://identifiers.org/omim/611702|MESH:C535796|UMLS:C2673686 http://purl.obolibrary.org/obo/MONDO_0012713 spondylometaphyseal dysplasia, East African type|spondylometaphyseal dysplasia East-African type gard_rare MONDO:0012714 early-onset myopathy with fatal cardiomyopathy biolink:Disease mondo MESH:C567129|UMLS:C2673677|ICD10:G71.8|Orphanet:289377|OMIM:611705|SCTID:702343002 MESH:C567129|SNOMEDCT:702343002|http://identifiers.org/omim/611705|UMLS:C2673677|ORPHA:289377 http://purl.obolibrary.org/obo/MONDO_0012714 myopathy, early-onset, with fatal cardiomyopathy|Salih myopathy|EOMFC|Salih myopathy; SALMY|SALMY ordo_disease MONDO:0012719 encephalopathy due to prosaposin deficiency biolink:Disease mondo OMIM:611721|Orphanet:139406|SCTID:720864008|GARD:0012505|UMLS:C4303785|MESH:C567125|UMLS:C2673635|ICD10:E75.2 Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses. SNOMEDCT:720864008|MESH:C567125|http://identifiers.org/omim/611721|UMLS:C4303785|UMLS:C2673635|ORPHA:139406 http://purl.obolibrary.org/obo/MONDO_0012719 combined Sap deficiency|combined SAP deficiency|combined saposin deficiency|PSAPD|prosaposin deficiency|combined prosaposin deficiency ordo_disease|gard_rare MONDO:0012717 renal hypomagnesemia 4 biolink:Disease mondo ICD10:E83.4|MESH:C567127|DOID:0060882|OMIM:611718|UMLS:C2673648 Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. MESH:C567127|http://identifiers.org/omim/611718|UMLS:C2673648|DOID:0060882 http://purl.obolibrary.org/obo/MONDO_0012717 hypomagnesemia 4, renal; HOMG4|familial primary hypomagnesemia caused by mutation in EGF|HOMG4|primary hypomagnesemia caused by mutation in EGF|hypomagnesemia, renal, Normocalciuric|renal hypomagnesemia type 4|EGF primary hypomagnesemia|EGF familial primary hypomagnesemia|hypomagnesemia 4, renal HP:0001903 Anemia biolink:PhenotypicFeature mondo SNOMEDCT_US:271737000|UMLS:C0002871|UMLS:C0162119|SNOMEDCT_US:165397008|MSH:D000740 A reduction in erythrocytes volume or hemoglobin concentration. http://purl.obolibrary.org/obo/HP_0001903 Anaemia|Low number of red blood cells or hemoglobin|Decreased hemoglobin MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia biolink:Disease mondo ICD10:E88.8|UMLS:C2673642|OMIM:611719|MESH:C567126|SCTID:724279004|Orphanet:137908|UMLS:C4510567 This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. UMLS:C4510567|MESH:C567126|ORPHA:137908|http://identifiers.org/omim/611719|SNOMEDCT:724279004|UMLS:C2673642 http://purl.obolibrary.org/obo/MONDO_0012718 combined oxidative phosphorylation deficiency 5; COXPD5|combined oxidative phosphorylation deficiency 5|combined oxidative phosphorylation defect type 5|COXPD5|MRPS22 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 5|combined oxidative phosphorylation deficiency caused by mutation in MRPS22 ordo_disease HGNC:4274 GJA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4274 MONDO:0012722 Dauwerse-Peters syndrome biolink:Disease mondo UMLS:C2673203|GARD:0010568|MESH:C567093|OMIM:611733 http://identifiers.org/omim/611733|UMLS:C2673203|MESH:C567093 http://purl.obolibrary.org/obo/MONDO_0012722 short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly|short stature, facial dysmorphism, severe brachydactyly and syndactyly|Dauwerse-Peters syndrome gard_rare MONDO:0012723 Leber congenital amaurosis 10 biolink:Disease mondo MESH:C565720|DOID:0110291|GARD:0010487|OMIM:611755|ICD10:H35.5 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene. http://identifiers.org/omim/611755|DOID:0110291|MESH:C565720 http://purl.obolibrary.org/obo/MONDO_0012723 amaurosis congenita of Leber, type 10|CEP290 Leber congenital amaurosis|Leber congenital amaurosis type 10|Leber congenital amaurosis 10; LCA10|LCA10|Leber congenital amaurosis caused by mutation in CEP290|Leber congenital amaurosis 10 gard_rare MONDO:0012720 Krabbe disease, atypical, due to saposin A deficiency biolink:Disease mondo GARD:0010289|MESH:C567097|UMLS:C2673266|OMIM:611722 http://identifiers.org/omim/611722|UMLS:C2673266|MESH:C567097 http://purl.obolibrary.org/obo/MONDO_0012720 saposin A deficiency|Krabbe disease, atypical, due to saposin A deficiency|Krabbe disease, atypical due to saposin A deficiency gard_rare MONDO:0012721 progressive myoclonic epilepsy type 3 biolink:Disease mondo ICD10:G40.3|GARD:0002167|OMIM:611726|Orphanet:263516|MESH:C567095|UMLS:C2673257 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene. http://identifiers.org/omim/611726|UMLS:C2673257|ORPHA:263516|MESH:C567095 http://purl.obolibrary.org/obo/MONDO_0012721 EPM3|EPM 3|ceroid lipofuscinosis, neuronal, 14|progressive myoclonic epilepsy 3|KCTD7 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 3, with or without intracellular inclusions|epilepsy progressive myoclonic type 3|PME type 3|epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; EPM3|progressive myoclonic epilepsy due to KCTD7 deficiency|progressive myoclonic epilepsy caused by mutation in KCTD7|progressive myoclonus epilepsy type 3 ordo_disease|gard_rare GO:0051173 positive regulation of nitrogen compound metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/GO_0051173 upregulation of nitrogen metabolic process|positive regulation of nitrogen metabolic process|up regulation of nitrogen metabolic process|positive regulation of nitrogen metabolism|stimulation of nitrogen metabolic process|up-regulation of nitrogen metabolic process|activation of nitrogen metabolic process MONDO:0000726 idiopathic scoliosis biolink:Disease mondo SCTID:203639008|UMLS:CN241052|DOID:0060250 A scoliosis with no known cause. UMLS:CN241052|SNOMEDCT:203639008|DOID:0060250 http://purl.obolibrary.org/obo/MONDO_0000726 GO:0051174 regulation of phosphorus metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolism MONDO:0000725 obsolete Simpson-Golabi-Behmel syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000725 MONDO:0000724 specific language impairment biolink:Disease mondo UMLS:C0454651|DOID:0060244|OMIMPS:606711 A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. UMLS:C0454651|DOID:0060244 http://purl.obolibrary.org/obo/MONDO_0000724 language impairment (disease) GO:0051171 regulation of nitrogen compound metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen metabolic process|regulation of nitrogen metabolism MONDO:0000723 stutter disorder biolink:Disease mondo OMIMPS:184450|NCIT:C35043|DOID:0060243|ICD10:F80.81 A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age. NCIT:C35043|DOID:0060243 http://purl.obolibrary.org/obo/MONDO_0000723 stammering|stuttering, familial persistent|stuttering|stutter|familial persistent stuttering GO:0051172 negative regulation of nitrogen compound metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/GO_0051172 downregulation of nitrogen metabolic process|negative regulation of nitrogen metabolism|down regulation of nitrogen metabolic process|inhibition of nitrogen metabolic process|down-regulation of nitrogen metabolic process|negative regulation of nitrogen metabolic process MONDO:0000729 obsolete congenital ptosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000729 HGNC:4279 GJA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/4279 MONDO:0000728 ptosis (disease) biolink:Disease mondo ICD10:H02.40|UMLS:C0033377|ICD10:H02.4|HP:0000508|MESH:D001763|ICD9:374.3|ICD9:374.30|ICD10:H02.409|NCIT:C27298|UMLS:C0005745|DOID:0060260|SCTID:11934000 The drooping of the upper eyelid. UMLS:C0033377|MESH:D001763|SNOMEDCT:11934000|NCIT:C27298|DOID:0060260|UMLS:C0005745 http://purl.obolibrary.org/obo/MONDO_0000728 blepharoptosis|eyelid ptosis|ptosis|drooping eyelid GO:0051175 negative regulation of sulfur metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. http://purl.obolibrary.org/obo/GO_0051175 inhibition of sulfur metabolic process|down-regulation of sulfur metabolic process|negative regulation of sulphur metabolism|negative regulation of sulphur metabolic process|negative regulation of sulfur metabolism|downregulation of sulfur metabolic process|down regulation of sulfur metabolic process UBERON:0008367 breast epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a breast. http://purl.obolibrary.org/obo/UBERON_0008367 MONDO:0000727 scapuloperoneal myopathy biolink:Disease mondo UMLS:C2931268|MESH:C536624|DOID:0060253 A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. MESH:C536624|DOID:0060253|UMLS:C2931268 http://purl.obolibrary.org/obo/MONDO_0000727 scapuloperoneal syndrome, myopathic type|myopathy, scapuloperoneal GO:0051176 positive regulation of sulfur metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. http://purl.obolibrary.org/obo/GO_0051176 upregulation of sulfur metabolic process|positive regulation of sulphur metabolic process|positive regulation of sulfur metabolism|positive regulation of sulphur metabolism|up regulation of sulfur metabolic process|stimulation of sulfur metabolic process|up-regulation of sulfur metabolic process|activation of sulfur metabolic process HGNC:4277 GJA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4277 MONDO:0000740 adenoid hypertrophy biolink:Disease mondo DOID:0060311|UMLS:C0149825|ICD10:J35.2|ICD9:474.12|SCTID:111591002|MedDRA:10001229 An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. SNOMEDCT:111591002|DOID:0060311|UMLS:C0149825 http://purl.obolibrary.org/obo/MONDO_0000740 enlarged adenoids|adenoidal hypertrophy NCBITaxon:4447 Liliopsida organism taxon mondo PMID:25249442|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4447 monocots|monocots|monocotyledons|Monocotyledoneae MONDO:0000744 lung abscess (disease) biolink:Disease mondo ICD10:J85.2|UMLS:C0024110|SCTID:73452002|EFO:1001362|ICD9:513.0|MESH:D008169|COHD:257010|DOID:0060317|HP:0025044|NCIT:C99090 A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis. SNOMEDCT:73452002|MESH:D008169|UMLS:C0024110|NCIT:C99090|DOID:0060317 http://purl.obolibrary.org/obo/MONDO_0000744 lung abscess NCBITaxon:89940 Cladophialophora bantiana organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_89940 Cladosporium bantianum|Xylohypha bantiana|Cladosporium trichoides MONDO:0000743 oral hairy leukoplakia biolink:Disease mondo UMLS:C0206186|NCIT:C3722|MESH:D017733|SCTID:414952002|ICD10:K13.3|DOID:0060315|ICD9:528.6 An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy. UMLS:C0206186|SNOMEDCT:414952002|DOID:0060315|MESH:D017733|NCIT:C3722 http://purl.obolibrary.org/obo/MONDO_0000743 mouth hairy leukoplakia|hairy leukoplakia of the mouth|hairy leukoplakia of mouth|hairy leukoplakia of the oral mucosa|hairy leukoplakia of oral mucosa|hairy leukoplakia|oral hairy keratosis|oral cavity hairy leukoplakia MONDO:0000742 obsolete persistent generalized lymphadenopathy biolink:Disease mondo SCTID:95892003|DOID:0060314 DOID:0060314|SNOMEDCT:95892003 http://purl.obolibrary.org/obo/MONDO_0000742 PGL MONDO:0000741 angular cheilitis biolink:Disease mondo DOID:0060312|UMLS:C0221237|ICD10:K13.0|SCTID:16459000|UMLS:C0221264|NCIT:C112198 Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts. UMLS:C0221237|UMLS:C0221264|DOID:0060312|NCIT:C112198|SNOMEDCT:16459000 http://purl.obolibrary.org/obo/MONDO_0000741 cheilitis of angle of oral opening|angular stomatitis|angular cheilosis|angle of oral opening cheilitis|commissural cheilitis|cheilosis|angular cheilitis|perleche|perlèche MONDO:0012704 dilated cardiomyopathy 1X biolink:Disease mondo OMIM:611615|MESH:C566907|DOID:0110444|ICD10:I42.0|UMLS:C1969024 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene. http://identifiers.org/omim/611615|MESH:C566907|DOID:0110444|UMLS:C1969024 http://purl.obolibrary.org/obo/MONDO_0012704 cardiomyopathy, dilated, type 1X|cardiomyopathy, dilated, 1X|cardiomyopathy, dilated, 1X; CMD1X|familial isolated dilated cardiomyopathy caused by mutation in FKTN|FKTN familial isolated dilated cardiomyopathy|dilated cardiomyopathy with mild or no proximal muscle weakness|cardiomyopathy, dilated, with mild or No proximal muscle weakness|dilated cardiomyopathy type 1X|CMD1X MONDO:0012705 familial temporal lobe epilepsy 3 biolink:Disease mondo MESH:C566903|OMIM:611630|DOID:0060750|UMLS:C1968848 UMLS:C1968848|http://identifiers.org/omim/611630|MESH:C566903|DOID:0060750 http://purl.obolibrary.org/obo/MONDO_0012705 familial temporal lobe epilepsy type 3|FMTLE|epilepsy, familial mesial temporal lobe|ETL3|familial mesial temporal lobe epilepsy|epilepsy, familial temporal lobe, 3; ETL3|epilepsy, familial temporal lobe, 3 HP:0001913 Granulocytopenia biolink:PhenotypicFeature mondo MSH:D000380|SNOMEDCT_US:417672002|SNOMEDCT_US:17182001|UMLS:C0001824 An abnormally reduced number of granulocytes in the blood. http://purl.obolibrary.org/obo/HP_0001913 NCBITaxon:63330 Hendra henipavirus organism taxon mondo GC_ID:1|PMID:7701348 http://purl.obolibrary.org/obo/NCBITaxon_63330 Hendra virus|Equine morbillivirus MONDO:0012702 CELIAC6 biolink:Disease mondo OMIM:611598 http://identifiers.org/omim/611598 http://purl.obolibrary.org/obo/MONDO_0012702 celiac disease, susceptibility to, 6|celiac disease, susceptibility to, 6; CELIAC6|CELIAC6|gluten-sensitive enteropathy, susceptibility to, 6|autoimmune disease, susceptibility to, 5 predisposition HP:0001911 Abnormal granulocyte morphology biolink:PhenotypicFeature mondo UMLS:C0427515|SNOMEDCT_US:250274006 Any structural abnormality or abnormal count of granulocytes. http://purl.obolibrary.org/obo/HP_0001911 Abnormality of granulocytes MONDO:0012703 lissencephaly due to TUBA1A mutation biolink:Disease mondo Orphanet:171680|UMLS:CN200289|NCIT:C148461|ICD10:Q04.3|MESH:C566908|OMIM:611603 Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. ORPHA:171680|NCIT:C148461|UMLS:CN200289|http://identifiers.org/omim/611603|MESH:C566908 http://purl.obolibrary.org/obo/MONDO_0012703 lissencephaly 3; LIS3|lissencephaly 3|LIS3|lissencephaly type 3 ordo_malformation_syndrome MONDO:0012708 PLSA1 biolink:Disease mondo OMIM:611637|MESH:C566900 http://identifiers.org/omim/611637|MESH:C566900 http://purl.obolibrary.org/obo/MONDO_0012708 PLSA1|primary lateral sclerosis, ADULT, 1|Pls, adult|primary lateral sclerosis, ADULT, 1; PLSA1 MONDO:0012709 microphthalmia, isolated, with coloboma 5 biolink:Disease mondo OMIM:611638|MESH:C566899|UMLS:C1968843 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene. UMLS:C1968843|MESH:C566899|http://identifiers.org/omim/611638 http://purl.obolibrary.org/obo/MONDO_0012709 microphthalmia, isolated, with coloboma type 5|microphthalmia, isolated, with coloboma 5; MCOPCB5|SHH microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 5|Shh microphthalmia, isolated, with coloboma|MCOPCB5|microphthalmia, isolated, with coloboma caused by mutation in Shh|microphthalmia, isolated, with coloboma caused by mutation in SHH MONDO:0012706 familial temporal lobe epilepsy 4 biolink:Disease mondo UMLS:C1968847|OMIM:611631|MESH:C566902|DOID:0060753 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22. UMLS:C1968847|http://identifiers.org/omim/611631|MESH:C566902|DOID:0060753 http://purl.obolibrary.org/obo/MONDO_0012706 ETL4|EPOLM|epilepsy, familial temporal lobe, 4; ETL4|epilepsy, familial temporal lobe, 4|familial temporal lobe epilepsy type 4|epilepsy, occipitotemporal lobe, and migraine with aura|occipitotemporal lobe epilepsy and migraine with aura MONDO:0012707 FEB9 biolink:Disease mondo MESH:C566901|UMLS:C1968846|OMIM:611634 UMLS:C1968846|http://identifiers.org/omim/611634|MESH:C566901 http://purl.obolibrary.org/obo/MONDO_0012707 febrile seizures, familial, 9; FEB9|febrile seizures, familial, 9|FEB9|febrile convulsions, familial, 9 HGNC:4286 GJB4 biolink:OntologyClass mondo http://identifiers.org/hgnc/4286 UBERON:0011997 coelom biolink:AnatomicalEntity mondo The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. http://purl.obolibrary.org/obo/UBERON_0011997 enterocoelom|schizocoelom|coelomic cavity|coelem|haemocoelom HGNC:4285 GJB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4285 HGNC:4284 GJB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4284 MONDO:0012711 peripapillary atrophy, beta type biolink:Disease mondo MESH:C566898|UMLS:C1968838|OMIM:611650 MESH:C566898|http://identifiers.org/omim/611650|UMLS:C1968838 http://purl.obolibrary.org/obo/MONDO_0012711 peripapillary atrophy, BETA type; PPAB|Beta-PPA|peripapillary atrophy, beta type|peripapillary chorioretinal atrophy, Beta type|PPAB GO:0051180 vitamin transport biolink:OntologyClass mondo The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/GO_0051180 vitamin or cofactor transport HGNC:4283 GJB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4283 GO:0051181 obsolete cofactor transport biolink:OntologyClass mondo OBSOLETE. The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein. http://purl.obolibrary.org/obo/GO_0051181 vitamin or cofactor transport MONDO:0012712 DYTCA biolink:Disease mondo UMLS:C2673697|OMIM:611694|MESH:C567131 MESH:C567131|http://identifiers.org/omim/611694|UMLS:C2673697 http://purl.obolibrary.org/obo/MONDO_0012712 dystonia with cerebellar atrophy; DYTCA|DYTCA|dystonia with cerebellar atrophy HGNC:4281 GJA8 biolink:OntologyClass mondo http://identifiers.org/hgnc/4281 MONDO:0012710 HSCR9 biolink:Disease mondo OMIM:611644 http://identifiers.org/omim/611644 http://purl.obolibrary.org/obo/MONDO_0012710 HSCR9|Hirschsprung disease, susceptibility to, 9; HSCR9|Hirschsprung disease, susceptibility to, 9 predisposition MONDO:0000737 obsolete megalocornea biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000737 MONDO:0000736 dyschromatosis universalis hereditaria biolink:Disease mondo Orphanet:241|DOID:0060304|GARD:0001996|OMIMPS:127500|SCTID:239082002|UMLS:C2930995|ICD10:L81.8|UMLS:C1306229|MESH:C535730 A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. UMLS:C2930995|ORPHA:241|MESH:C535730|DOID:0060304|SNOMEDCT:239082002|UMLS:C1306229 http://purl.obolibrary.org/obo/MONDO_0000736 DUH|dyschromatosis universalis gard_rare|ordo_disease NCBITaxon:1262365 Tabanoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1262365 MONDO:0000735 obsolete oculodentodigital dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000735 MONDO:0000734 Ohdo syndrome and variants biolink:Disease mondo DOID:0060289 DOID:0060289 http://purl.obolibrary.org/obo/MONDO_0000734 Ohdo blepharophimosis syndrome|Ohdo syndrome GO:0051188 obsolete cofactor biosynthetic process biolink:OntologyClass mondo OBSOLETE. The chemical reactions and pathways resulting in the formation of a cofactor, a substance that is required for the activity of an enzyme or other protein. http://purl.obolibrary.org/obo/GO_0051188 cofactor anabolism|cofactor biosynthesis|cofactor synthesis|cofactor formation MONDO:0000739 uvulitis biolink:Disease mondo UMLS:C0042174|ICD9:528.3|DOID:0060310|ICD10:K12.2|NCIT:C128385|SCTID:300932000|MedDRA:10051962 Inflammation of the uvula. UMLS:C0042174|NCIT:C128385|DOID:0060310|SNOMEDCT:300932000 http://purl.obolibrary.org/obo/MONDO_0000739 palatine uvula inflammation|inflammation of palatine uvula|acute uvulitis GO:0051186 obsolete cofactor metabolic process biolink:OntologyClass mondo OBSOLETE. The chemical reactions and pathways involving a cofactor, a substance that is required for the activity of an enzyme or other protein. Cofactors may be inorganic, such as the metal atoms zinc, iron, and copper in certain forms, or organic, in which case they are referred to as coenzymes. Cofactors may either be bound tightly to active sites or bind loosely with the substrate. http://purl.obolibrary.org/obo/GO_0051186 cofactor metabolism HGNC:4289 GK biolink:OntologyClass mondo http://identifiers.org/hgnc/4289 MONDO:0000738 obsolete syndromic X-linked intellectual disability biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000738 HGNC:4288 GJB6 biolink:OntologyClass mondo http://identifiers.org/hgnc/4288 CHEBI:38092 cardenolide glycoside biolink:ChemicalSubstance mondo Any member of the class of cardenolides with glycosyl residues attached to position 3. http://purl.obolibrary.org/obo/CHEBI_38092 5alpha-cardenolide glycoside|5beta-cardenolide glycoside GO:0016746 transferase activity, transferring acyl groups biolink:OntologyClass mondo Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/GO_0016746 acyltransferase activity GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups biolink:OntologyClass mondo Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/GO_0016747 transferase activity, transferring groups other than amino-acyl groups CHEBI:51061 hormone receptor modulator biolink:ChemicalSubstance mondo A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulators GO:0016741 transferase activity, transferring one-carbon groups biolink:OntologyClass mondo Catalysis of the transfer of a one-carbon group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/GO_0016741 GO:0016740 transferase activity biolink:OntologyClass mondo Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/GO_0016740 GO:0004773 steryl-sulfatase activity biolink:OntologyClass mondo Catalysis of the reaction: 3-beta-hydroxyandrost-5-en-17-one 3-sulfate + H2O = 3-beta-hydroxyandrost-5-en-17-one + sulfate. http://purl.obolibrary.org/obo/GO_0004773 steroid 3-sulfatase activity|steryl-sulphatase activity|dehydroepiandrosterone sulfatase activity|phenolic steroid sulfatase activity|3-beta-hydroxysteroid sulfate sulfatase activity|steryl-sulfate sulfohydrolase activity|pregnenolone sulfatase activity|dehydroepiandrosterone sulfate sulfatase activity|sterol sulfatase activity|steroid sulfatase activity|steroid sulfate sulfohydrolase activity|arylsulfatase C activity GO:0016757 transferase activity, transferring glycosyl groups biolink:OntologyClass mondo Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/GO_0016757 transglycosidase activity|glycosyltransferase activity|transglycosylase activity|transferase activity, transferring other glycosyl groups GO:0016755 transferase activity, transferring amino-acyl groups biolink:OntologyClass mondo Catalysis of the transfer of an amino-acyl group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/GO_0016755 aminoacyltransferase activity CHEBI:38099 thiadiazoles biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_38099 NCBITaxon:4479 Poaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4479 grass family|Bambusaceae|Gramineae GO:0004743 pyruvate kinase activity biolink:OntologyClass mondo Catalysis of the reaction: = ADP + H(+) + phosphoenolpyruvate => ATP + pyruvate. http://purl.obolibrary.org/obo/GO_0004743 phosphoenol transphosphorylase activity|ATP:pyruvate 2-O-phosphotransferase activity|phosphoenolpyruvate kinase activity CHEBI:38070 anti-arrhythmia drug biolink:ChemicalSubstance mondo A drug used for the treatment or prevention of cardiac arrhythmias. Anti-arrhythmia drugs may affect the polarisation-repolarisation phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibres. http://purl.obolibrary.org/obo/CHEBI_38070 anti-arrhythmia agent|antiarrhythmic agent HGNC:6814 MAGEL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6814 GO:0004749 ribose phosphate diphosphokinase activity biolink:OntologyClass mondo Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). http://purl.obolibrary.org/obo/GO_0004749 ATP:D-ribose-5-phosphate diphosphotransferase activity|ribose-phosphate diphosphokinase activity|ribophosphate pyrophosphokinase activity|PPRibP synthetase activity|PP-ribose P synthetase activity|phosphoribosyl-diphosphate synthetase activity|phosphoribosylpyrophosphate synthase activity|PRPP synthetase activity|pyrophosphoribosylphosphate synthetase activity|phosphoribosylpyrophosphate synthetase activity|ribose-5-phosphate pyrophosphokinase activity|phosphoribosyl diphosphate synthetase activity|phosphoribosyl pyrophosphate synthetase activity|5-phosphoribosyl-alpha-1-pyrophosphate synthetase activity|5-phosphoribosyl-1-pyrophosphate synthetase activity|ribose-phosphate pyrophosphokinase activity|5-phosphoribose pyrophosphorylase activity GO:0004758 serine C-palmitoyltransferase activity biolink:OntologyClass mondo Catalysis of the reaction: L-serine + H(+) + palmitoyl-CoA = 3-dehydrosphinganine + CO(2) + CoA. http://purl.obolibrary.org/obo/GO_0004758 serine palmitoyltransferase|acyl-CoA:serine C-2 acyltransferase decarboxylating|SPT|3-oxosphinganine synthetase activity|palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity GO:0004757 sepiapterin reductase activity biolink:OntologyClass mondo Catalysis of the reaction: 7,8-dihydrobiopterin + NADP+ = sepiapterin + NADPH + H+. http://purl.obolibrary.org/obo/GO_0004757 7,8-dihydrobiopterin:NADP+ oxidoreductase activity CHEBI:51039 dopamine uptake inhibitor biolink:ChemicalSubstance mondo A dopaminergic agent that blocks the transport of dopamine into axon terminals or into storage vesicles within terminals. Most of the adrenergic uptake inhibitors also inhibit dopamine uptake. http://purl.obolibrary.org/obo/CHEBI_51039 dopamine uptake inhibitors|DARI|dopamine reuptake inhibitors|dopamine reuptake inhibitor|DRI HGNC:6816 MAK biolink:OntologyClass mondo http://identifiers.org/hgnc/6816 HGNC:6819 MALT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6819 HGNC:6823 MAN1B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6823 CHEBI:38077 polypyrrole biolink:ChemicalSubstance mondo A compound composed of two or more pyrrole units. http://purl.obolibrary.org/obo/CHEBI_38077 polypyrroles|poly(pyrrole)s|PPys PATO:0015023 decreased combustibility biolink:OntologyClass mondo An decrease in combustibility. http://purl.obolibrary.org/obo/PATO_0015023 noncombustible PATO:0015024 increased porosity biolink:OntologyClass mondo An increase in porosity. http://purl.obolibrary.org/obo/PATO_0015024 PATO:0015021 combustibility biolink:OntologyClass mondo The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids. http://purl.obolibrary.org/obo/PATO_0015021 PATO:0015022 increased combustibility biolink:OntologyClass mondo An increase in combustibility. http://purl.obolibrary.org/obo/PATO_0015022 combustible PATO:0015025 decreased porosity biolink:OntologyClass mondo An decrease in porosity. http://purl.obolibrary.org/obo/PATO_0015025 HGNC:6826 MAN2B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6826 GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor. http://purl.obolibrary.org/obo/GO_0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, miscellaneous UBERON:0008424 inguinal mammary gland biolink:AnatomicalEntity mondo A mammary gland that is part of a inguinal part of abdomen. http://purl.obolibrary.org/obo/UBERON_0008424 UBERON:0008425 mammary ridge biolink:AnatomicalEntity mondo A ridge of epidermal cells that will form the mammary placodes. http://purl.obolibrary.org/obo/UBERON_0008425 mammary fold|mammary line|milk line|mammary gland ridge HGNC:6831 MANBA biolink:OntologyClass mondo http://identifiers.org/hgnc/6831 HGNC:6833 MAOA biolink:OntologyClass mondo http://identifiers.org/hgnc/6833 UBERON:0008429 cervical vertebral foramen biolink:AnatomicalEntity mondo A vertebral foramen that is part of a cervical vertebra. http://purl.obolibrary.org/obo/UBERON_0008429 NCBITaxon:715962 dothideomyceta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_715962 UBERON:0008420 buccal epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a buccal mucosa. http://purl.obolibrary.org/obo/UBERON_0008420 CHEBI:26078 phosphoric acid biolink:ChemicalSubstance mondo A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom. http://purl.obolibrary.org/obo/CHEBI_26078 H3PO4|Phosphorsaeure|acide phosphorique|acidum phosphoricum|orthophosphoric acid|trihydroxidooxidophosphorus|Orthophosphoric acid|trihydrogen tetraoxophosphate(3-)|phosphoric acid|Phosphoric acid|Phosphorsaeureloesungen|Phosphate|tetraoxophosphoric acid|[PO(OH)3] CHEBI:26079 phosphoric acid derivative biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26079 GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor. http://purl.obolibrary.org/obo/GO_0016712 microsomal p450 activity|microsomal monooxygenase activity|flavoprotein monooxygenase activity|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidizing)|aryl hydrocarbon hydroxylase activity|cytochrome P450 CYP19|aryl-4-monooxygenase activity|xenobiotic monooxygenase activity|microsomal P-450|flavoprotein-linked monooxygenase activity|cytochrome p450 activity|unspecific monooxygenase activity HGNC:6840 MAP2K1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6840 CHEBI:26082 phosphorus molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_26082 phosphorus molecular entities HGNC:6842 MAP2K2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6842 GO:0004737 pyruvate decarboxylase activity biolink:OntologyClass mondo Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2. http://purl.obolibrary.org/obo/GO_0004737 pyruvic decarboxylase activity|2-oxo-acid carboxy-lyase (aldehyde-forming)|alpha-carboxylase activity|2-oxo-acid carboxy-lyase activity|alpha-ketoacid carboxylase activity HGNC:6848 MAP3K1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6848 UBERON:0008404 proximal tubular epithelium biolink:AnatomicalEntity mondo The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. http://purl.obolibrary.org/obo/UBERON_0008404 proximal tubule epithelium|epithelium of proximal renal tubule|proximal renal tubule epithelium|epithelium of proximal convoluted tubule|proximale tubular epithelium HGNC:6853 MAP3K14 biolink:OntologyClass mondo http://identifiers.org/hgnc/6853 UBERON:0008408 distal tubular epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a distal tubule. http://purl.obolibrary.org/obo/UBERON_0008408 distal tubule epithelium HGNC:6859 MAP3K7 biolink:OntologyClass mondo http://identifiers.org/hgnc/6859 NCBITaxon:715989 sordariomyceta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_715989 GO:1905516 positive regulation of fertilization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of fertilization. http://purl.obolibrary.org/obo/GO_1905516 up-regulation of fertilization|up-regulation of syngamy|up regulation of fertilization|up regulation of syngamy|activation of fertilization|activation of syngamy|positive regulation of syngamy|upregulation of fertilization|upregulation of syngamy CHEBI:38032 carbotricyclic compound biolink:ChemicalSubstance mondo A carbopolyclic compound comprising of three carbocyclic rings. http://purl.obolibrary.org/obo/CHEBI_38032 carbotricyclic compounds HGNC:4206 OPN1MW biolink:OntologyClass mondo http://identifiers.org/hgnc/4206 HGNC:4204 GCNT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4204 GO:0051100 negative regulation of binding biolink:OntologyClass mondo Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/GO_0051100 down-regulation of binding|down regulation of binding|inhibition of binding|downregulation of binding GO:0051101 regulation of DNA binding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/GO_0051101 HGNC:6860 MAP3K8 biolink:OntologyClass mondo http://identifiers.org/hgnc/6860 GO:0002184 cytoplasmic translational termination biolink:OntologyClass mondo The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon. http://purl.obolibrary.org/obo/GO_0002184 MONDO:0022180 chromosome 16 trisomy biolink:Disease mondo NCIT:C37866|GARD:0007060 NCIT:C37866 http://purl.obolibrary.org/obo/MONDO_0022180 trisomy 16|trisomy chromosome 16|mosaic trisomy 16 gard_rare GO:0099094 ligand-gated cation channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of an inorganic cation by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. http://purl.obolibrary.org/obo/GO_0099094 GO:0002181 cytoplasmic translation biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein. http://purl.obolibrary.org/obo/GO_0002181 GO:0002182 cytoplasmic translational elongation biolink:OntologyClass mondo The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm. http://purl.obolibrary.org/obo/GO_0002182 GO:0002183 cytoplasmic translational initiation biolink:OntologyClass mondo The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/GO_0002183 ENVO:01001483 surface of an astronomical body biolink:OntologyClass mondo A surface layer where the solid or liquid material of an astronomical body comes into contact with an atmosphere or outer space. http://purl.obolibrary.org/obo/ENVO_01001483 MONDO:0022177 chromosome 13q trisomy biolink:Disease mondo UMLS:C0795849|MESH:C535485 MESH:C535485|UMLS:C0795849 http://purl.obolibrary.org/obo/MONDO_0022177 trisomy 13q|Duplication 13q MONDO:0022178 chromosome 13q-mosaicism biolink:Disease mondo MESH:C535486|UMLS:CN037259 MESH:C535486|UMLS:CN037259 http://purl.obolibrary.org/obo/MONDO_0022178 Mosiacism of chromosome 13q ENVO:01001477 liquid astronomical body part biolink:OntologyClass mondo A part of an astronomical body which is primarily composed of a continuous volume of liquid material, shaped by one or more environmental processes. http://purl.obolibrary.org/obo/ENVO_01001477 ENVO:01001476 body of liquid biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01001476 ENVO:01001479 fluid astronomical body part biolink:OntologyClass mondo A part of an astronomical body which is primarily composed of a continuous volume of liquid or gaseous material, shaped by one or more environmental processes. http://purl.obolibrary.org/obo/ENVO_01001479 ENVO:01001478 gaseous astronomical body part biolink:OntologyClass mondo A part of an astronomical body which is primarily composed of a continuous volume of gaseous material, shaped by one or more environmental processes. http://purl.obolibrary.org/obo/ENVO_01001478 MONDO:0022171 chromhidrosis biolink:Disease mondo SCTID:26147006|GARD:0010749|ICD9:705.89|ICD10:L75.1 A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms. SNOMEDCT:26147006 http://purl.obolibrary.org/obo/MONDO_0022171 chromhidrosis|secretion of colored sweat gard_rare MONDO:0022173 chromosome 11q trisomy biolink:Disease mondo MESH:C538297 MESH:C538297 http://purl.obolibrary.org/obo/MONDO_0022173 trisomy 11q|Duplication 11q MONDO:0022174 chromosome 12p deletion biolink:Disease mondo MESH:C538301|GARD:0006068|UMLS:C0795844|NCIT:C36410 A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. NCIT:C36410|MESH:C538301|UMLS:C0795844 http://purl.obolibrary.org/obo/MONDO_0022174 monosomy 12p|loss of chromosome 12p|12p deletion|12p monosomy|12p-|partial monosomy 12p|12p del|del(12p)|deletion 12p gard_rare MONDO:0010198 Wernicke-Korsakoff syndrome biolink:Disease mondo EFO:1001242|SCTID:69482004|OMIM:277730|GARD:0006843|DOID:10915|MedDRA:10047913|NCIT:C35764|MESH:C538669 Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed. http://identifiers.org/omim/277730|DOID:10915|MESH:C538669|NCIT:C35764|SNOMEDCT:69482004 http://purl.obolibrary.org/obo/MONDO_0010198 Wernicke encephalopathy|Korsakoff's psychosis|alcohol-induced encephalopathy|Korsakoff syndrome|Wernicke-Korsakoff syndrome|Korsakov psychosis|Korsakov's psychosis|Korsakoff's syndrome|transketolase defect gard_rare MONDO:0010197 whistling face syndrome, recessive form biolink:Disease mondo MESH:C536699|OMIM:277720|UMLS:C1848470|GARD:0010024 UMLS:C1848470|http://identifiers.org/omim/277720|MESH:C536699 http://purl.obolibrary.org/obo/MONDO_0010197 whistling face syndrome, recessive form gard_rare MONDO:0034186 autosomal recessive extra-oral halitosis biolink:Disease mondo Orphanet:562538 ORPHA:562538 http://purl.obolibrary.org/obo/MONDO_0034186 ordo_disease MONDO:0010199 white forelock with malformations biolink:Disease mondo ICD10:Q87.8|SCTID:763619009|UMLS:C1848463|OMIM:277740|GARD:0010081|MESH:C536700|Orphanet:2475 White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. SNOMEDCT:763619009|MESH:C536700|UMLS:C1848463|http://identifiers.org/omim/277740|ORPHA:2475 http://purl.obolibrary.org/obo/MONDO_0010199 white forelock with malformations ordo_malformation_syndrome|gard_rare MONDO:0010190 pontocerebellar hypoplasia type 2A biolink:Disease mondo OMIM:277470|DOID:0060267|MESH:C564738|GARD:0003631 Any pontocerebellar hypoplasia type 2 in which the cause of the disease is a mutation in the TSEN54 gene. http://identifiers.org/omim/277470|DOID:0060267|MESH:C564738 http://purl.obolibrary.org/obo/MONDO_0010190 PCH2A|Pch2|pontocerebellar hypoplasia type 2 caused by mutation in TSEN54|pontocerebellar hypoplasia, type 2A|microcephaly pontocerebellar hypoplasia dyskinesia|Volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy|TSEN54 pontocerebellar hypoplasia type 2|pontocerebellar hypoplasia, type 2A; PCH2A gard_rare MONDO:0010192 Waardenburg syndrome type 4A biolink:Disease mondo OMIM:277580|DOID:0110953 A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. DOID:0110953|http://identifiers.org/omim/277580 http://purl.obolibrary.org/obo/MONDO_0010192 WS4A|Waardenburg syndrome type IVA|EDNRB Waardenburg syndrome|Waardenburg-Shah syndrome|Shah-Waardenburg syndrome|Ws4|Waardenburg syndrome, type 4A; WS4A|Waardenburg syndrome with Hirschsprung disease type 4A|Waardenburg syndrome caused by mutation in EDNRB|Waardenburg syndrome with Hirschsprung disease, type 4A|Waardenburg syndrome, type 4A MONDO:0010191 von Willebrand disease 3 biolink:Disease mondo ICD10:D68.0|MESH:D056729|NCIT:C85213|OMIM:277480|DOID:0111054|Orphanet:166096|UMLS:C1264041|SCTID:128108002 Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). NCIT:C85213|http://identifiers.org/omim/277480|ORPHA:166096|SNOMEDCT:128108002|MESH:D056729|DOID:0111054|UMLS:C1264041 http://purl.obolibrary.org/obo/MONDO_0010191 von Willebrand's disease 3|von Willebrand disease type 3|VWD3|Von Willebrand disease, type 3|VWD type 3|von Willebrand's disease type 3|VON WILLEBRAND disease, type 3|von Willebrand disease type III|VWD, type 3|VON WILLEBRAND disease, type 3; VWD3 ordo_clinical_subtype MONDO:0010194 Weill-Marchesani syndrome 1 biolink:Disease mondo OMIM:277600 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. http://identifiers.org/omim/277600 http://purl.obolibrary.org/obo/MONDO_0010194 Weill-Marchesani syndrome, autosomal recessive|mesodermal Dysmorphodystrophy, congenital|Weill-Marchesani syndrome 1|spherophakia-brachymorphia syndrome|Weill-Marchesani syndrome caused by mutation in ADAMTS10|WMS1|Weill-Marchesani syndrome type 1|Weill-Marchesani syndrome 1; WMS1|ADAMTS10 Weill-Marchesani syndrome MONDO:0010193 Weaver syndrome biolink:Disease mondo OMIM:277590|GTR:AN0102079|ICD9:759.89|GARD:0007878|DOID:14731|NCIT:C125599|MESH:C536687|GTR:AN0102080|UMLS:C0265210|Orphanet:3447|ICD10:Q87.3|UMLS:CN036342|SCTID:63119004 Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. UMLS:CN036342|NCIT:C125599|SNOMEDCT:63119004|http://identifiers.org/omim/277590|ORPHA:3447|UMLS:C0265210|MESH:C536687|DOID:14731 http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome|EZH2 related overgrowth|WEAVER syndrome; WVS|Weaver-like syndrome|WVS|overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly|Weaver Smith syndrome|Weaver-Smith syndrome|camptodactyly-overgrowth-unusual facies syndrome|Weaver like syndrome|Weaver Williams syndrome|Weaver-Williams syndrome|mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|WEAVER-like syndrome|intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|camptodactyly - overgrowth - unusual facies ordo_malformation_syndrome MONDO:0010196 Werner syndrome biolink:Disease mondo OMIM:277700|NCIT:C3447|MESH:D014898|Orphanet:902|MedDRA:10049429|GARD:0007885|ICD10:E34.8|UMLS:C0043119|SCTID:51626007|DOID:5688|ICD9:259.8 Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. ORPHA:902|http://identifiers.org/omim/277700|SNOMEDCT:51626007|NCIT:C3447|MEDDRA:10049429|UMLS:C0043119|MESH:D014898|DOID:5688 http://purl.obolibrary.org/obo/MONDO_0010196 adult progeria|Werner's syndrome|Werner syndrome|WS|Werner syndrome; WRN|WRN|adult premature ageing syndrome ordo_disease MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome biolink:Disease mondo Orphanet:562639 ORPHA:562639 http://purl.obolibrary.org/obo/MONDO_0034189 ordo_disease MONDO:0010195 obsolete Weissenbacher-Zweymuller syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010195 HGNC:21181 SUMO4 biolink:OntologyClass mondo http://identifiers.org/hgnc/21181 MONDO:0009189 multiple epiphyseal dysplasia type 4 biolink:Disease mondo UMLS:C1847593|MESH:C535504|GARD:0009793|ICD10:Q77.3|DOID:0070300|SCTID:715672007|Orphanet:93307|OMIM:226900 Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. SNOMEDCT:715672007|ORPHA:93307|DOID:0070300|UMLS:C1847593|MESH:C535504|http://identifiers.org/omim/226900 http://purl.obolibrary.org/obo/MONDO_0009189 EDM4|epiphyseal dysplasia, multiple, 4; EDM4|epiphyseal dysplasia, multiple, type 4|multiple epiphyseal dysplasia with clubfoot|multiple epiphyseal dysplasia with double-layered patella|epiphyseal dysplasia, multiple, 4|epiphyseal dysplasia multiple 4|Polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2|rMED|MED4|multiple epiphyseal dysplasia with Bilayered patellae|multiple epiphyseal dysplasia 4|multiple epiphyseal dysplasia, autosomal recessive|autosomal recessive multiple epiphyseal dysplasia|SLC26A2 multiple epiphyseal dysplasia (disease) ordo_disease MONDO:0009188 epilepsy-telangiectasia syndrome biolink:Disease mondo OMIM:226850|UMLS:C1856929|MESH:C535497|GARD:0002168|ICD10:G40.8|Orphanet:1951 Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait. ORPHA:1951|UMLS:C1856929|MESH:C535497|http://identifiers.org/omim/226850 http://purl.obolibrary.org/obo/MONDO_0009188 epilepsy telangiectasia|epilepsy-telangiectasia|mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency|intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency ordo_disease MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 biolink:Disease mondo ICD10:D68.2|UMLS:C1848534|Orphanet:98434|SCTID:724356003|OMIM:277450|MESH:C564741 Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. MESH:C564741|SNOMEDCT:724356003|UMLS:C1848534|http://identifiers.org/omim/277450|ORPHA:98434 http://purl.obolibrary.org/obo/MONDO_0010187 FMFD 3|glutamic acid, deficient gamma-carboxylation of|GGCX congenital vitamin K-dependent coagulation factors combined deficiency|vitamin K-dependent coagulation defect|VKCFD1|vitamin K-dependent clotting factors, combined deficiency of, 1|vitamin K-dependent clotting factors, combined deficiency of, type 1|vitamin K-dependent clotting factors, combined deficiency of, 1; VKCFD1|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX|Vkcfd|familial multiple coagulation Factor deficiency 3|multiple coagulation Factor deficiency 3|hereditary combined deficiency of factors II, VII, IX and X|factors II, VII, IX, and X, combined deficiency of|hereditary combined deficiency of vitamin K-dependent clotting factors prototype_pattern|ordo_disease MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome biolink:Disease mondo GARD:0002166|UMLS:C1856930|Orphanet:1459|MESH:C535496|OMIM:226810 Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. ORPHA:1459|UMLS:C1856930|MESH:C535496|http://identifiers.org/omim/226810 http://purl.obolibrary.org/obo/MONDO_0009187 familial unilateral and bilateral occipital calcifications and epilepsy|CEC|bilateral occipital calcifications with epilepsy|epilepsy occipital calcifications|epilepsy with bilateral occipital calcifications|celiac disease, epilepsy, and cerebral calcification syndrome|celiac disease epilepsy occipital calcifications ordo_disease MONDO:0010186 vitamin D-dependent rickets, type 2A biolink:Disease mondo SCTID:237894002|NCIT:C131075|UMLS:C0342646|OMIM:277440 Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. NCIT:C131075|UMLS:C0342646|SNOMEDCT:237894002|http://identifiers.org/omim/277440 http://purl.obolibrary.org/obo/MONDO_0010186 vitamin D dependent rickets 2a|rickets, hereditary vitamin D-resistant|rickets-alopecia syndrome|vitamin d-dependent rickets type II with alopecia|VDR vitamin D-dependent rickets, type 2|vitamin D-dependent rickets, type 2A, with or without alopecia|vitamin D-dependent rickets, type 2A; VDDR2A|Pseudovitamin D-deficiency, type 2A|generalized resistance to 1,25-dihydroxyvitamin D|vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|vitamin D-dependent rickets, type 2A|hypocalcemic vitamin D-resistant rickets|vitamin D-dependent rickets, type 2 caused by mutation in VDR|Pddr 2A|vitamin D receptor deficiency rickets|VDDR2A|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia MONDO:0009186 epilepsy, photogenic, with spastic diplegia and mental retardation biolink:Disease mondo OMIM:226800|UMLS:C1856931|MESH:C565587 UMLS:C1856931|MESH:C565587|http://identifiers.org/omim/226800 http://purl.obolibrary.org/obo/MONDO_0009186 epilepsy, photogenic, with spastic diplegia and mental retardation|epilepsy, photogenic, with spastic diplegia and intellectual disability MONDO:0010189 vitiligo, progressive, with mental retardation and urethral duplication biolink:Disease mondo UMLS:C1848532|MESH:C564739|OMIM:277465 MESH:C564739|UMLS:C1848532|http://identifiers.org/omim/277465 http://purl.obolibrary.org/obo/MONDO_0010189 vitiligo, progressive, with intellectual disability and urethral duplication|vitiligo, progressive, with mental retardation and urethral duplication MONDO:0009185 amelocerebrohypohidrotic syndrome biolink:Disease mondo OMIM:226750|Orphanet:1946|UMLS:C0406740|GARD:0003128|SCTID:109478007|MESH:C537213|ICD10:G40.8 Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. MESH:C537213|UMLS:C0406740|ORPHA:1946|http://identifiers.org/omim/226750|SNOMEDCT:109478007 http://purl.obolibrary.org/obo/MONDO_0009185 Kohlschutter-Tonz syndrome|Kohlschutter Tonz syndrome|KOHLSCHUTTER-Tonz syndrome|epilepsy-dementia-amelogenesis imperfecta syndrome|epilepsy and Yellow teeth|KOHLSCHUTTER-Tonz syndrome; KTZS|epilepsy, dementia, and amelogenesis imperfecta|epilepsy dementia amelogenesis imperfecta|Kohlschutter syndrome|KTZS ordo_malformation_syndrome MONDO:0010188 familial isolated deficiency of vitamin E biolink:Disease mondo GARD:0008595|SCTID:702442008|OMIM:277460|ICD10:G11.1|ICD9:334.3|ICD9:269.1|DOID:0090028|MedDRA:10047631|MESH:C535393|Orphanet:96 Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. MEDDRA:10047631|MESH:C535393|DOID:0090028|SNOMEDCT:702442008|UMLS:C1848533|ORPHA:96|http://identifiers.org/omim/277460 http://purl.obolibrary.org/obo/MONDO_0010188 vitamin E, familial isolated deficiency OF|Friedreich-like ataxia with selective vitamin E deficiency|Friedreich-like ataxia|AVED|familial isolated vitamin E deficiency|vitamin E, familial isolated deficiency OF; VED|isolated vitamin E deficiency|ataxia with vitamin E deficiency|VED|Friedreich-like ataxia|ataxia, Friedreich-like, with selective vitamin E deficiency|ataxia with isolated vitamin E deficiency|familial isolated deficiency of vitamin type E ordo_disease MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia biolink:Disease mondo OMIM:226735|MESH:C565588 MESH:C565588|http://identifiers.org/omim/226735 http://purl.obolibrary.org/obo/MONDO_0009184 epidermolysis bullosa with diaphragmatic hernia MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia biolink:Disease mondo GARD:0009694|Orphanet:79403|DOID:0060733|ICD10:Q81.8|MESH:C535377|OMIM:226730|UMLS:C1856934 Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract. MESH:C535377|UMLS:C1856934|ORPHA:79403|http://identifiers.org/omim/226730|DOID:0060733 http://purl.obolibrary.org/obo/MONDO_0009183 Carmi syndrome|junctional epidermolysis bullosa with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita|epidermolysis bullosa junctionalis with pyloric atresia|aplasia cutis congenita with gastrointestinal atresia|epidermolysis bullosa JUNCTIONALIS with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia|junctional epidermolysis bullosa-pyloric atresia syndrome|JEB-Pa|EB-Pa-ACC|JEB-PA|junctional epidermolysis bullosa - pyloric atresia|epidermolysis bullosa with pyloric atresia gard_rare|ordo_disease MONDO:0009182 junctional epidermolysis bullosa Herlitz type biolink:Disease mondo ICD10:Q81.1|OMIM:226700|Orphanet:79404|SCTID:400140006|GARD:0002153|DOID:0060737 Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. http://identifiers.org/omim/226700|ORPHA:79404|DOID:0060737|SNOMEDCT:400140006 http://purl.obolibrary.org/obo/MONDO_0009182 Herlitz-Pearson-type epidermolysis bullosa|epidermolysis bullosa, junctional, Herlitz-Pearson type|epidermolysis bullosa, junctional, Herlitz type|junctional epidermolysis bullosa, Herlitz-Pearson type|epidermolysis bullosa Junctionalis, Herlitz type|junctional epidermolysis bullosa, generalized severe|epidermolysis bullosa letalis|junctional epidermolysis bullosa, Herlitz type|JEB-Herlitz type|JEB-H|Herlitz type epidermolysis bullosa junctionalis|junctional epidermolysis bullosa generalisata gravis|Herlitz-Pearson type epidermolysis bullosa|JEB, generalized severe gard_rare|ordo_disease MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy biolink:Disease mondo Orphanet:257|MESH:C535955|GARD:0002137|SCTID:723308003|ICD10:Q81.0|OMIM:226670|UMLS:C2931072|DOID:0090017 Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. ORPHA:257|DOID:0090017|http://identifiers.org/omim/226670|UMLS:C2931072|MESH:C535955|SNOMEDCT:723308003 http://purl.obolibrary.org/obo/MONDO_0009181 Epidermolysa bullosa simplex and limb girdle muscular dystrophy|epidermolysis bullosa simplex - limb girdle muscular dystrophy|epidermolysis bullosa simplex with muscular dystrophy; EBSMD|Epidermolysa bullosa simplex with muscular dystrophy|limb-girdle muscular dystrophy with epidermolysis bullosa simplex|EBSMD|epidermolysis bullosa simplex with muscular dystrophy|EBS-MD|MD-EBS|epidermolysis bullosa simplex and limb-girdle muscular dystrophy|MDEBS ordo_disease|gard_rare NCBITaxon:740972 Tritrichomonadida organism taxon mondo GC_ID:1|PMID:20093080 http://purl.obolibrary.org/obo/NCBITaxon_740972 Trichomonadida Kirby, 1947, emend. Brugerolle and Patterson, 2001 NCBITaxon:740973 Dientamoebidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_740973 Protrichomonadinae MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type biolink:Disease mondo ICD9:757.39|OMIM:226650|GARD:0002151|ICD10:Q81.8|SCTID:33662006|Orphanet:89840 Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. SNOMEDCT:33662006|http://identifiers.org/omim/226650|ORPHA:89840 http://purl.obolibrary.org/obo/MONDO_0009180 JEB-nH|epidermolysis bullosa Junctionalis, progressive|JEB-I|epidermolysis bullosa, generalized atrophic benign|epidermolysis bullosa Junctionalis, severe Nonlethal|junctional epidermolysis bullosa inversa|epidermolysis bullosa, junctional, non-Herlitz type|JEN-nH|epidermolysis bullosa Junctionalis, Disentis type|epidermolysis bullosa, junctional, Localisata variant|epidermolysis bullosa Junctionalis, non-Herlitz type ordo_disease MONDO:0010181 oculogastrointestinal muscular dystrophy biolink:Disease mondo Orphanet:1876|OMIM:277320|SCTID:722060007|GARD:0005496|ICD10:G71.0 Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. SNOMEDCT:722060007|UMLS:C1848586|http://identifiers.org/omim/277320|MESH:C536350|ORPHA:1876 http://purl.obolibrary.org/obo/MONDO_0010181 visceral myopathy, familial, with external ophthalmoplegia|visceral myopathy - familial external ophthalmoplegia|familial visceral myopathy with external ophthalmoplegia|visceral myopathy-familial external ophthalmoplegia syndrome|muscular dystrophy, oculogastrointestinal|intestinal pseudoobstruction with external ophthalmoplegia ordo_disease MONDO:0010180 autosomal recessive spondylocostal dysostosis biolink:Disease mondo Orphanet:2311|UMLS:CN032975|ICD9:756.9|SCTID:61367005|MESH:C535781|ICD10:Q76.8 Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. MESH:C535781|UMLS:C2931020|http://identifiers.org/omim/277300|ORPHA:2311|SNOMEDCT:61367005|UMLS:C0265343|MESH:C537565|UMLS:CN032975 http://purl.obolibrary.org/obo/MONDO_0010180 Jarcho-Levin syndrome|spondylocostal dysostosis 1, autosomal recessive|costovertebral dysplasia|spondylocostal dysostosis, autosomal recessive|SCDO1|spondylocostal dysostosis 1, autosomal recessive; SCDO1 ordo_malformation_syndrome MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF biolink:Disease mondo OMIM:277380|SCTID:80887004|DOID:0050717|MESH:C564747|GARD:0003584|ICD10:E72.1|Orphanet:79284 A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner. ORPHA:79284|MESH:C564747|http://identifiers.org/omim/277380|SNOMEDCT:80887004|DOID:0050717 http://purl.obolibrary.org/obo/MONDO_0010183 combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF|vitamin B12 lysosomal release defect|MAHCF|cblF methylmalonic acidemia and homocystinuria|cobalamin, defect in lysosomal release of|lysosomal membrane cobalamin transporter deficiency|vitamin B12 storage disease|methylmalonic aciduria due to vitamin B12-release defect|cobalamin locus f variant|methylmalonic aciduria and homocystinuria, cblF type|cobalamin F deficiency|methylmalonic aciduria and homocystinuria, cblF type; MAHCF|cobalamin F defect|inherited methylmalonic acidemia and homocystinuria|methylmalonic acidemia with homocystinuria type cblF|methylmalonic acidemia and homocystinuria, cblF type|cblF defect|methylmalonic aciduria with homocystinuria, type cblF|cobalamin F disease ordo_clinical_subtype MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive biolink:Disease mondo MESH:C567486|UMLS:C2678266|OMIM:277350 http://identifiers.org/omim/277350|UMLS:C2678266|MESH:C567486 http://purl.obolibrary.org/obo/MONDO_0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD biolink:Disease mondo Orphanet:79283|DOID:0050716|SCTID:31220004|GARD:0003582|ICD10:E72.1|MESH:C564743|UMLS:CN205879|OMIM:277410 A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations. DOID:0050716|ORPHA:79283|MESH:C564743|SNOMEDCT:31220004|UMLS:CN205879|http://identifiers.org/omim/277410 http://purl.obolibrary.org/obo/MONDO_0010185 methylmalonic acidemia with homocystinuria, type cblD|methylmalonic aciduria, Cblh type|methylmalonic aciduria with homocystinuria, type cblD|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD|homocystinuria, cblD type, variant 1, included|m0e.321 cobalamin locus d variant|methylmalonic acidemia and homocystinuria, cblD type|methylmalonic acidemia with homocystinuria type cblD|cblD methylmalonic acidemia and homocystinuria|cobalamin D deficiency|methylmalonic aciduria and homocystinuria, cblD type; MAHCD|methylmalonic aciduria, cblD type, variant 2|methylmalonic acidemia, Cblh type, formerly|cobalamin D defect|methylmalonic acidemia, Cblh type|cblD - cobalamin locus d|Mehtylmalonic acidemia with homocystinuria cbI d|cblD defect|methylmalonic aciduria, cblD type, variant 2, included|MAHCD|cobalamin d disease|homocystinuria, cblD type, variant 1|methylmalonic aciduria, Cblh type, formerly|methylmalonic aciduria and homocystinuria, cblD type ordo_clinical_subtype MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC biolink:Disease mondo GARD:0012128|Orphanet:79282|DOID:0050715|SCTID:74653006|ICD10:E72.1|NCIT:C142174|UMLS:CN205878|OMIM:277400 A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner. DOID:0050715|ORPHA:79282|NCIT:C142174|UMLS:CN205878|http://identifiers.org/omim/277400|SNOMEDCT:74653006 http://purl.obolibrary.org/obo/MONDO_0010184 combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC|vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|cblC|methylmalonic acidemia and homocystinuria, cblC type|cobalamin C deficiency|cblC methylmalonic acidemia and homocystinuria|methylmalonic aciduria and homocystinuria cblC|cobalamin C defect|methylmalonic aciduria and homocystinuria, cblC type, digenic|methylmalonic aciduria and homocystinuria, vitamin B12-responsive|cblC defect|methylmalonic aciduria and homocystinuria, cblC type; MAHCC|methylmalonic acidemia and homocystinuria cblC|cobalamin locus c variant|MAHCC|cobalamin c disease|cblC - cobalamin locus c|methylmalonic aciduria and homocystinuria, cblC type|methylmalonic acidemia with homocystinuria type cblC|methylmalonic aciduria with homocystinuria, type cblC|methylmalonic acidemia with homocystinuria, type cblC ordo_clinical_subtype HP:0011220 Prominent forehead biolink:PhenotypicFeature mondo UMLS:C1867446|UMLS:C1837260 Forward prominence of the entire forehead, due to protrusion of the frontal bone. http://purl.obolibrary.org/obo/HP_0011220 Prominence of frontal region|Prominent forehead|Protruding forehead|Bulging forehead|Pronounced forehead hposlim_core HP:0011226 Aplasia/Hypoplasia of the eyelid biolink:PhenotypicFeature mondo UMLS:C4023453 Absence or underdevelopment of the eyelid. http://purl.obolibrary.org/obo/HP_0011226 Failure of development of eyelid|Hypotrophic eyelid HGNC:21191 DAOA biolink:OntologyClass mondo http://identifiers.org/hgnc/21191 GO:0099081 supramolecular polymer biolink:OntologyClass mondo A polymeric supramolecular structure. http://purl.obolibrary.org/obo/GO_0099081 MONDO:0022151 Chitty Hall Webb syndrome biolink:Disease mondo UMLS:C2931066|GARD:0001277|MESH:C535929|SCTID:725103004 MESH:C535929|UMLS:C2931066|SNOMEDCT:725103004 http://purl.obolibrary.org/obo/MONDO_0022151 bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay gard_rare MONDO:0009199 ethanolaminosis biolink:Disease mondo ICD9:270.8|SCTID:64235006|UMLS:C0268423|MESH:C562651|OMIM:227150 UMLS:C0268423|http://identifiers.org/omim/227150|SNOMEDCT:64235006|MESH:C562651 http://purl.obolibrary.org/obo/MONDO_0009199 ethanolamine kinase deficiency|ethanolaminosis HGNC:21197 FA2H biolink:OntologyClass mondo http://identifiers.org/hgnc/21197 GO:0099080 supramolecular complex biolink:OntologyClass mondo A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. http://purl.obolibrary.org/obo/GO_0099080 MONDO:0009198 congenital lethal erythroderma biolink:Disease mondo MESH:C535513|GARD:0002192|ICD10:Q82.8|SCTID:722391005|Orphanet:1954|OMIM:227090 Congenital lethal erythroderma is a rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. http://identifiers.org/omim/227090|ORPHA:1954|UMLS:C1856898|SNOMEDCT:722391005|MESH:C535513 http://purl.obolibrary.org/obo/MONDO_0009198 erythroderma, lethal congenital|congenital exfoliative erythroderma resistant to treatment|lethal congenital erythroderma|erythroderma lethal congenital ordo_disease|gard_rare MONDO:0010176 orofaciodigital syndrome type 6 biolink:Disease mondo OMIM:277170|MESH:C536531|DOID:0060376|GARD:0004412|ICD10:Q04.3|SCTID:721873007|UMLS:C2745997|NCIT:C124841|Orphanet:2754 Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. MESH:C536531|SNOMEDCT:721873007|DOID:0060376|http://identifiers.org/omim/277170|UMLS:C2745997|NCIT:C124841|ORPHA:2754 http://purl.obolibrary.org/obo/MONDO_0010176 Varadi syndrome|Varadi-Papp syndrome|Joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|orofaciodigital syndrome VI|orofaciodigital syndrome 6|orofaciodigital syndrome type 6|polydactyly cleft lip palate psychomotor retardation|Váradi-Papp syndrome|oral-Facial-digital syndrome, type 6|polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation|Váradi syndrome|Joubert syndrome with oral-facial-digital syndrome|polydactyly - cleft lip/palate - psychomotor retardation|polydactyly-cleft lip/palate-psychomotor retardation syndrome|Ofds 6|orofaciodigital syndrome VI|orofaciodigital syndrome VI; OFD6|OFD6 gard_rare|ordo_disease MONDO:0010175 van Bogaert-Hozay syndrome biolink:Disease mondo MESH:C536526|OMIM:277150|GARD:0008415|UMLS:C1848598 MESH:C536526|http://identifiers.org/omim/277150|UMLS:C1848598 http://purl.obolibrary.org/obo/MONDO_0010175 van Bogaert-Hozay syndrome|A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects|A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects|Hozay’s syndrome|Hozay's syndrome|acro-osteolysis-facial dysplasia syndrome gard_rare MONDO:0009197 transient erythroblastopenia of childhood biolink:Disease mondo NCIT:C131683|UMLS:C0238478|ICD9:284.81|ICD10:D60.1|Orphanet:98871|MESH:C536980|OMIM:227050|SCTID:191255003|UMLS:C0451688|GARD:0007793 An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. UMLS:C0238478|http://identifiers.org/omim/227050|UMLS:C0451688|ORPHA:98871|MESH:C536980|NCIT:C131683|SNOMEDCT:191255003 http://purl.obolibrary.org/obo/MONDO_0009197 transient erythroblastopenia of childhood; tec|tec|transient erythroblastopenia of childhood|familial transient erythroblastopenia of childhood|erythroblastopenia, transient|transient acquired pure red cell aplasia gard_rare|ordo_disease MONDO:0009196 ermine phenotype biolink:Disease mondo UMLS:C0268501|ICD10:E70.3|MEDGEN:82812|Orphanet:999|ICD9:270.2|UMLS:C1856899|MESH:C535508|MESH:C562663|SCTID:10170007|GARD:0000407|OMIM:227010 Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. SNOMEDCT:10170007|http://identifiers.org/omim/227010|UMLS:C1856899|MESH:C535508|ORPHA:999|MESH:C562663|UMLS:C0268501 http://purl.obolibrary.org/obo/MONDO_0009196 BADS|BADS syndrome|black locks, oculocutaneous albinism, and deafness of the sensorineural type|pigmentary disorder with hearing loss|ermine phenotype|black locks with albinism and deafness syndrome|O'Doherty syndrome ordo_malformation_syndrome|gard_rare MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation biolink:Disease mondo NCIT:C129303|OMIM:277180 An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis. NCIT:C129303|http://identifiers.org/omim/277180 http://purl.obolibrary.org/obo/MONDO_0010178 vas deferens, congenital bilateral aplasia of; CBAVD|CBAVD|CAVD|congenital bilateral aplasia of the vas deferens|vas deferens, congenital bilateral aplasia of MONDO:0010177 retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome biolink:Disease mondo ICD10:E78.8|GARD:0004635|MESH:C564750|Orphanet:3018|OMIM:277175 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage. MESH:C535283|MESH:C564750|http://identifiers.org/omim/277175|ORPHA:3018|UMLS:C2930864 http://purl.obolibrary.org/obo/MONDO_0010177 digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a|Rambaud-Gallian syndrome|Rambaud-Gallian-Touchard syndrome|vascular hyalinosis ordo_malformation_syndrome MONDO:0009195 erythema of acral regions biolink:Disease mondo OMIM:227000 http://identifiers.org/omim/227000 http://purl.obolibrary.org/obo/MONDO_0009195 erythema of acral regions MONDO:0009194 chronic Epstein-Barr virus infection syndrome biolink:Disease mondo OMIM:614894|OMIM:226990|Orphanet:2566|ICD10:B27.0|GARD:0009534 Chronic active Epstein-Barr virus infection (CAEBV) is a rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV. ORPHA:2566|http://identifiers.org/omim/226990|http://identifiers.org/omim/614894 http://purl.obolibrary.org/obo/MONDO_0009194 CAEBV syndrome|CAEBV infection|immunodeficiency 32B; IMD32B|chronic active Epstein-Barr virus infection|chronic EBV infection syndrome|CEBV|IMD32B|IRF8 deficiency, autosomal recessive|Epstein-Barr VIRUS, susceptibility to chronic infection by|chronic active Epstein-Barr disease|monocyte and dendritic cell deficiency, autosomal recessive|immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive|immunodeficiency 32B ordo_disease|gard_rare MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract biolink:Disease mondo OMIM:226985|MESH:C565584|UMLS:C1856902 MESH:C565584|UMLS:C1856902|http://identifiers.org/omim/226985 http://purl.obolibrary.org/obo/MONDO_0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract MONDO:0010179 isolated right ventricular hypoplasia biolink:Disease mondo ICD10:Q22.6|SCTID:718135001|UMLS:C1848587|MESH:C535682|GARD:0004721|Orphanet:439|OMIM:277200 Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. ORPHA:439|SNOMEDCT:718135001|MESH:C535682|http://identifiers.org/omim/277200|UMLS:C1848587 http://purl.obolibrary.org/obo/MONDO_0010179 isolated hypoplasia of the right ventricle|Irvh|right ventricular hypoplasia, isolated|hypoplasia of the right ventricle|right ventricular hypoplasia|right ventricle hypoplasia ordo_morphological_anomaly MONDO:0009192 Wolcott-Rallison syndrome biolink:Disease mondo ICD10:E13|Orphanet:1667|UMLS:C0432217|GARD:0005589|NCIT:C131007|MESH:C536739|DOID:0090060|OMIM:226980|SCTID:254066006 Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. ORPHA:1667|NCIT:C131007|DOID:0090060|MESH:C536739|UMLS:C0432217|http://identifiers.org/omim/226980|SNOMEDCT:254066006 http://purl.obolibrary.org/obo/MONDO_0009192 early-onset diabetes mellitus with multiple epiphyseal dysplasia|Wolcott-Rallison syndrome|epiphyseal dysplasia multiple with early-onset diabetes mellitus|WRS|Iddm-Med syndrome|IDDM-MED syndrome|MED-IDDM syndrome|Med-Iddm syndrome|epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|Wolcott Rallison syndrome ordo_disease|gard_rare MONDO:0009191 Lowry-Wood syndrome biolink:Disease mondo SCTID:721975004|ICD10:Q87.5|MESH:C537038|Orphanet:1824|MedDRA:10062600|GARD:0000264|OMIM:226960|UMLS:C0796021 Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. ORPHA:1824|MEDDRA:10062600|http://identifiers.org/omim/226960|SNOMEDCT:721975004|UMLS:C0796021|MESH:C537038 http://purl.obolibrary.org/obo/MONDO_0009191 epiphyseal dysplasia-microcephaly-nystagmus syndrome|Lowry-Wood syndrome|LWS|epiphyseal dysplasia, microcephaly, and NYSTAGMUS|Lowry Wood syndrome|epiphyseal dysplasia, microcephaly and nystagmus ordo_disease|gard_rare MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness biolink:Disease mondo OMIM:226950|UMLS:C1856918|MESH:C565585 MESH:C565585|UMLS:C1856918|http://identifiers.org/omim/226950 http://purl.obolibrary.org/obo/MONDO_0009190 epiphyseal dysplasia of femoral head, myopia, and deafness MONDO:0010170 Usher syndrome type 3A biolink:Disease mondo OMIM:276902|DOID:0110841|ICD10:H35.5 Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene. DOID:0110841|http://identifiers.org/omim/276902 http://purl.obolibrary.org/obo/MONDO_0010170 Usher syndrome caused by mutation in CLRN1|USHER syndrome, type IIIA; USH3A|CLRN1 Usher syndrome|Usher syndrome type IIIA|USH3A|Usher syndrome, type 3|USHER syndrome, type IIIA|Usher syndrome, type 3A MONDO:0010172 VACTERL with hydrocephalus biolink:Disease mondo UMLS:C1848599|ICD10:Q87.8|OMIM:276950|GARD:0000272|Orphanet:3412 VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. UMLS:C1848599|ORPHA:3412|http://identifiers.org/omim/276950 http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL hydrocephaly|vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly|VACTERL association with hydrocephalus|Vater association with hydrocephalus|Sujansky-Leonard syndrome|Vater association with macrocephaly and ventriculomegaly|VACTERL association with hydrocephaly|VACTERL-H ordo_malformation_syndrome MONDO:0010171 Usher syndrome type 1C biolink:Disease mondo GARD:0005437|OMIM:276904|DOID:0110830|UMLS:C1848604|ICD10:H35.5 A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner. DOID:0110830|UMLS:C1848604|http://identifiers.org/omim/276904 http://purl.obolibrary.org/obo/MONDO_0010171 USHER syndrome, type IC; USH1C|USH1C|Usher syndrome, type I, Acadian variety|Usher syndrome type IC|USHER syndrome, type IC|Usher syndrome type I Acadian variety|Usher syndrome, Acadian variety|Usher syndrome, type 1C gard_rare MONDO:0010174 Valinemia biolink:Disease mondo MESH:C536524|GARD:0007845|SCTID:47719001|UMLS:C0268573|OMIM:277100 Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal. MESH:C536524|http://identifiers.org/omim/277100|SNOMEDCT:47719001|UMLS:C0268573 http://purl.obolibrary.org/obo/MONDO_0010174 hypervalinemia|valine transaminase deficiency|Valinemia gard_rare MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 biolink:Disease mondo OMIM:277000|SCTID:8793008|ICD10:Q51.8|Orphanet:247775|GARD:0007100|ICD9:752.49 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. http://identifiers.org/omim/277000|ORPHA:247775|SNOMEDCT:8793008 http://purl.obolibrary.org/obo/MONDO_0010173 Mrk anomaly|genital renal ear syndrome|Mayer-Rokitansky-Küster-Hauser syndrome type 1|Müllerian agenesis|Von Mayer-Rokitansky-Kuster anomaly|congenital absence of the uterus and vagina (CAUV)|MRKH syndrome|MRKH anomaly|MRKH syndrome type 1|Mullerian dysgenesis|uterus Bipartitus solidus Rudimentarius cum vagina Solida|Mullerian aplasia/dysgenesis|Rokitansky syndrome|Mayer-Rokitansky-KUSTER-Hauser syndrome|urogenital adysplasia|Rokitansky sequence|congenital absence of uterus and vagina|Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) ordo_clinical_subtype|gard_rare HP:0011297 Abnormal digit morphology biolink:PhenotypicFeature mondo UMLS:C3550704 A morphological abnormality of a digit, i.e., of a finger or toe. http://purl.obolibrary.org/obo/HP_0011297 Abnormality of digit|Digital anomalies|Abnormality of fingers or toes hposlim_core GO:0016787 hydrolase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. http://purl.obolibrary.org/obo/GO_0016787 GO:0016788 hydrolase activity, acting on ester bonds biolink:OntologyClass mondo Catalysis of the hydrolysis of any ester bond. http://purl.obolibrary.org/obo/GO_0016788 esterase activity ENVO:01001434 anthropogenic ecosystem conversion process biolink:OntologyClass mondo A process during which an ecosystem - natural or anthropised - is changed by the actions of humans. http://purl.obolibrary.org/obo/ENVO_01001434 HP:0011280 Abnormality of urine calcium concentration biolink:PhenotypicFeature mondo UMLS:C4023434 An abnormality of calcium concentration in the urine. http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine Ca2+ concentration|Abnormality of urine Ca concentration HP:0011282 Abnormality of hindbrain morphology biolink:PhenotypicFeature mondo UMLS:C4021170 An abnormality of the hindbrain, also known as the rhombencephalon. http://purl.obolibrary.org/obo/HP_0011282 Abnormal shape of hindbrain|Abnormality of the hindbrain HP:0011283 Abnormality of the metencephalon biolink:PhenotypicFeature mondo UMLS:C4023432 An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. http://purl.obolibrary.org/obo/HP_0011283 HGNC:21176 RMND1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21176 MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia biolink:Disease mondo Orphanet:556985 ORPHA:556985 http://purl.obolibrary.org/obo/MONDO_0034143 ordo_disease MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome biolink:Disease mondo Orphanet:556955 ORPHA:556955 http://purl.obolibrary.org/obo/MONDO_0034142 ordo_disease GO:0016798 hydrolase activity, acting on glycosyl bonds biolink:OntologyClass mondo Catalysis of the hydrolysis of any glycosyl bond. http://purl.obolibrary.org/obo/GO_0016798 glycosidase activity|N-glycosylase|glycosylase MONDO:0034147 neonatal epileptic encephalopathy due to glutaminase deficiency biolink:Disease mondo Orphanet:557064 ORPHA:557064 http://purl.obolibrary.org/obo/MONDO_0034147 ordo_disease MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency biolink:Disease mondo Orphanet:557056 ORPHA:557056 http://purl.obolibrary.org/obo/MONDO_0034146 ordo_disease MONDO:0034145 oculocerebrodental syndrome biolink:Disease mondo Orphanet:557003|OMIM:618440 http://identifiers.org/omim/618440|ORPHA:557003 http://purl.obolibrary.org/obo/MONDO_0034145 Cataracts, Early-Onset, With Skeletal and Dental Anomalies|OCSKD|oculoskeletodental syndrome|oculoskeletodental syndrome; OCSKD ordo_disease GO:0016791 phosphatase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/GO_0016791 para-nitrophenyl phosphatase activity|4-nitrophenylphosphatase activity|p-nitrophenylphosphate phosphohydrolase activity|phosphatase|phosphoric monoester hydrolase activity|p-nitrophenylphosphatase activity|4-nitrophenylphosphate phosphohydrolase activity|K-pNPPase activity|PNPPase activity|ecto-p-nitrophenyl phosphatase activity|NPPase activity|nitrophenyl phosphatase activity HGNC:21144 DSE biolink:OntologyClass mondo http://identifiers.org/hgnc/21144 HP:0011276 Vascular skin abnormality biolink:PhenotypicFeature mondo SNOMEDCT_US:11263005|UMLS:C0162819|MSH:D017445|UMLS:C1842892 http://purl.obolibrary.org/obo/HP_0011276 Vascular abnormalities restricted to skin|Skin vascular malformation HP:0011277 Abnormality of the urinary system physiology biolink:PhenotypicFeature mondo UMLS:C4023437 http://purl.obolibrary.org/obo/HP_0011277 HGNC:21143 ZBTB24 biolink:OntologyClass mondo http://identifiers.org/hgnc/21143 GO:0016769 transferase activity, transferring nitrogenous groups biolink:OntologyClass mondo Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/GO_0016769 transferase activity, transferring other nitrogenous groups MONDO:0034150 idiopathic gastroparesis biolink:Disease mondo Orphanet:558411 ORPHA:558411 http://purl.obolibrary.org/obo/MONDO_0034150 ordo_disease GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups biolink:OntologyClass mondo Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/GO_0016765 transferase activity, transferring alkyl or aryl groups, other than methyl groups CHEBI:51086 chemical role biolink:ChemicalSubstance mondo A role played by the molecular entity or part thereof within a chemical context. http://purl.obolibrary.org/obo/CHEBI_51086 HGNC:21158 RNF135 biolink:OntologyClass mondo http://identifiers.org/hgnc/21158 HGNC:21157 GTF2H5 biolink:OntologyClass mondo http://identifiers.org/hgnc/21157 HGNC:21150 RNF125 biolink:OntologyClass mondo http://identifiers.org/hgnc/21150 MONDO:0022196 chronic erosive gastritis biolink:Disease mondo ICD9:535.40|GARD:0006099|UMLS:C0267145|SCTID:63137003 SNOMEDCT:63137003|UMLS:C0267145 http://purl.obolibrary.org/obo/MONDO_0022196 varioliform gastritis|idiopathic chronic, erosive gastritis|chronic erosive gastritis|diffuse varioliform gastritis|ceg - chronic erosive gastritis gard_rare GO:0016778 diphosphotransferase activity biolink:OntologyClass mondo Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). http://purl.obolibrary.org/obo/GO_0016778 GO:0016774 phosphotransferase activity, carboxyl group as acceptor biolink:OntologyClass mondo Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to a carboxyl group (acceptor). http://purl.obolibrary.org/obo/GO_0016774 GO:0016772 transferase activity, transferring phosphorus-containing groups biolink:OntologyClass mondo Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/GO_0016772 GO:0016773 phosphotransferase activity, alcohol group as acceptor biolink:OntologyClass mondo Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). http://purl.obolibrary.org/obo/GO_0016773 HGNC:21244 LEMD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21244 UBERON:5003625 manual digit 5 plus metapodial segment biolink:AnatomicalEntity mondo A subdivision of the autopod consisting of manual digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_5003625 manual digit V plus metapodial segment|manual digit 5 digitopodial subdivision|manual digit 5 ray|manual digit 5 ( phalanges plus metapodial) plus soft tissue|manual digit 5 MONDO:0000674 mirror agnosia biolink:Disease mondo DOID:0060144 An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. DOID:0060144 http://purl.obolibrary.org/obo/MONDO_0000674 MONDO:0000673 integrative agnosia biolink:Disease mondo DOID:0060143 Agnosia characterized by the inability to integrate perceptual wholes within knowledge. DOID:0060143 http://purl.obolibrary.org/obo/MONDO_0000673 MONDO:0000672 form agnosia biolink:Disease mondo DOID:0060142 An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. DOID:0060142 http://purl.obolibrary.org/obo/MONDO_0000672 MONDO:0024643 myocardial disorder biolink:Disease mondo NCIT:C35544|SCTID:57809008 A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy. SNOMEDCT:57809008|NCIT:C35544 http://purl.obolibrary.org/obo/MONDO_0024643 myocardial disorder|myocardium disease or disorder|disorder of myocardium|disease or disorder of myocardium|disorder of myocardium|disorder of heart muscle|myocardial disease|disease of myocardium|myocardium disease HGNC:21246 PNPLA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21246 MONDO:0024642 gastric neuroendocrine tumor G2 biolink:Disease mondo UMLS:C3272407|NCIT:C95880 A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent. NCIT:C95880|UMLS:C3272407 http://purl.obolibrary.org/obo/MONDO_0024642 gastric NET G2|gastric neuroendocrine tumor G2 NCBITaxon:41831 Psychodoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41831 MONDO:0000671 finger agnosia (disease) biolink:Disease mondo HP:0010525|DOID:0060141 An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers DOID:0060141 http://purl.obolibrary.org/obo/MONDO_0000671 finger agnosia|manual digit agnosia MONDO:0000678 simultanagnosia biolink:Disease mondo GARD:0011943|DOID:0060148 An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. DOID:0060148 http://purl.obolibrary.org/obo/MONDO_0000678 gard_rare MONDO:0024645 retroperitoneal neoplasm biolink:Disease mondo NCIT:C3357 A benign or malignant neoplasm that affects the retroperitoneum. NCIT:C3357 http://purl.obolibrary.org/obo/MONDO_0024645 tumor of retroperitoneal space|retroperitoneal neoplasm|neoplasm of retroperitoneal space|retroperitoneal space tumor|retroperitoneal space neoplasm MONDO:0024644 myocardial ischemia biolink:Disease mondo SCTID:414545008|NCIT:C50625|MESH:D017202|EFO:1001375|ICD10:I20.I25|UMLS:C0151744 A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). UMLS:C0151744|SNOMEDCT:414545008|NCIT:C50625|MESH:D017202 http://purl.obolibrary.org/obo/MONDO_0024644 ischemic heart diseases|ischemic disease of myocardium|IHD|ischemias, myocardial|ischemic heart disease|heart disease, ischemic|disease, ischemic heart|myocardium ischemic disease|heart diseases, ischemic|myocardial Ischemias|ischemia, myocardial|diseases, ischemic heart MONDO:0000677 semantic agnosia biolink:Disease mondo DOID:0060147 An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. DOID:0060147 http://purl.obolibrary.org/obo/MONDO_0000677 MONDO:0024647 urolithiasis biolink:Disease mondo ICD10:N21|NCIT:C114688|UMLS:C0451641|SCTID:95566004 Stone(s) within the urinary tract. SNOMEDCT:95566004|UMLS:C0451641|NCIT:C114688 http://purl.obolibrary.org/obo/MONDO_0024647 calculus|urolithiasis|kidney stone|urinary stones MONDO:0000676 phonagnosia biolink:Disease mondo DOID:0060146 An agnosia that is a loss of the ability to recognize familiar voices. DOID:0060146 http://purl.obolibrary.org/obo/MONDO_0000676 MONDO:0024646 obsolete refractory biolink:Disease mondo UMLS:C1514815|NCIT:C39752 NCIT:C39752 http://purl.obolibrary.org/obo/MONDO_0024646 MONDO:0000675 pain agnosia biolink:Disease mondo NCIT:C125664|EFO:1001484|DOID:0060145 Loss of the ability to perceive and process pain. DOID:0060145|NCIT:C125664 http://purl.obolibrary.org/obo/MONDO_0000675 analgesia MONDO:0009009 hypoplasminogenemia biolink:Disease mondo GARD:0004380|ICD10:L90.5|MESH:C580017|UMLS:C0398621|Orphanet:722|UMLS:C1968804|OMIM:217090|SCTID:95840007 Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing. UMLS:C0398621|ORPHA:722|MESH:C580017|SNOMEDCT:95840007|UMLS:C1968804|http://identifiers.org/omim/217090 http://purl.obolibrary.org/obo/MONDO_0009009 plasminogen deficiency, type I|ligneous conjunctivitis|type 1 plasminogen deficiency|Dysplasminogenemia|plasminogen deficiency, type 2|plasminogen deficiency, type 1|plasminogen deficiency type 1 ordo_disease MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome biolink:Disease mondo GARD:0002612|OMIM:217085|GARD:0004166|MESH:C535849|UMLS:C2931046|ICD10:Q87.8|Orphanet:1338 ORPHA:1338|MESH:C535849|UMLS:C2931046|http://identifiers.org/omim/217085 http://purl.obolibrary.org/obo/MONDO_0009008 congenital heart defects, hamartomas of tongue, and polysyndactyly|Ostravik-Lindemann-Solberg syndrome|CHDTHP|congenital heart defects, hamartomas of tongue, and polysyndactyly; CHDTHP|Orstavik Lindemann Solberg syndrome|heart defect, tongue hamartoma and polysyndactyly ordo_malformation_syndrome|gard_rare MONDO:0009007 Jalili syndrome biolink:Disease mondo Orphanet:1873|GARD:0001463|ICD9:520.5|UMLS:CN200616|OMIM:217080|ICD9:362.75|UMLS:C3495589|ICD10:H35.5|MESH:C000596385|SCTID:707608003 Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD). UMLS:C3495589|UMLS:CN200616|ORPHA:1873|UMLS:C2931074|SNOMEDCT:707608003|http://identifiers.org/omim/217080|MESH:C000596385 http://purl.obolibrary.org/obo/MONDO_0009007 cone rod dystrophy-amelogenesis imperfecta syndrome|Jalili syndrome|cone-rod dystrophy and amelogenesis imperfecta|cone-rod dystrophy amelogenesis imperfecta|cone-rod dystrophy with amelogenesis imperfecta ordo_malformation_syndrome|gard_rare MONDO:0009006 complement component 2 deficiency biolink:Disease mondo GARD:0001452|NCIT:C119992|DOID:0060295|OMIM:217000|UMLS:C3150275|ICD10:D84.1 Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion. UMLS:C3150275|DOID:0060295|http://identifiers.org/omim/217000|NCIT:C119992 http://purl.obolibrary.org/obo/MONDO_0009006 complement component 2 deficiency|C2 complement deficiency|complement component 2 deficiency; C2D|C2 deficiency|C2D|complement deficiency caused by mutation in C2 gard_rare MONDO:0012658 brachydactyly type B2 biolink:Disease mondo ICD10:Q73.8|UMLS:C1969652|OMIM:611377|Orphanet:140908|DOID:0110975 Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. UMLS:C1969652|DOID:0110975|http://identifiers.org/omim/611377|ORPHA:140908 http://purl.obolibrary.org/obo/MONDO_0012658 BDB2|brachydactyly, type B2|brachydactyly, type B2; BDB2 ordo_malformation_syndrome MONDO:0012659 age related macular degeneration 9 biolink:Disease mondo OMIM:611378|MESH:C566958|DOID:0110021|UMLS:C1969651 Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene. UMLS:C1969651|http://identifiers.org/omim/611378|DOID:0110021|MESH:C566958 http://purl.obolibrary.org/obo/MONDO_0012659 age related macular degeneration type 9|macular degeneration, age-related, 9; ARMD9|age-related macular degeneration caused by mutation in C3|C3 age-related macular degeneration|macular degeneration, age-related, 9|ARMD9|macular Degeneration, age-related, type 9 MONDO:0009005 complement component C1r/C1s deficiency biolink:Disease mondo OMIM:216950|NCIT:C119991|UMLS:C3150274 Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. http://identifiers.org/omim/216950|UMLS:C3150274|NCIT:C119991 http://purl.obolibrary.org/obo/MONDO_0009005 complement component C1r/C1s deficiency|C1r/C1s deficiency MONDO:0000670 cortical deafness biolink:Disease mondo UMLS:C0392704|DOID:0060140 An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. UMLS:C0392704|DOID:0060140 http://purl.obolibrary.org/obo/MONDO_0000670 MONDO:0009004 combined inflammatory and immunologic defect biolink:Disease mondo MESH:C565684|UMLS:C1857617|OMIM:216920 MESH:C565684|UMLS:C1857617|http://identifiers.org/omim/216920 http://purl.obolibrary.org/obo/MONDO_0009004 combined inflammatory and immunologic defect MONDO:0009003 achromatopsia 2 biolink:Disease mondo GARD:0009649|DOID:0110007|UMLS:C1857618|OMIM:216900 Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms. DOID:0110007|UMLS:C1857618|http://identifiers.org/omim/216900 http://purl.obolibrary.org/obo/MONDO_0009003 RMCH2|Rod monochromacy 2|colorblindness, total|achromatopsia 2; ACHM2|rod monochromacy 2|CNGA3 achromatopsia|Rod monochromatism 2|achromatopsia type 2|ACHM2|achromatopsia caused by mutation in CNGA3|rod monochromatism 2|achromatopsia 2 gard_rare MONDO:0009002 coloboma, ocular, autosomal recessive biolink:Disease mondo UMLS:C4011974|OMIM:216820 UMLS:C4011974|http://identifiers.org/omim/216820 http://purl.obolibrary.org/obo/MONDO_0009002 coloboma, ocular, autosomal recessive MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C1857619|OMIM:216800|SCTID:722463001|Orphanet:91494|MESH:C565686 Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. MESH:C565686|SNOMEDCT:722463001|ORPHA:91494|UMLS:C1857619|http://identifiers.org/omim/216800 http://purl.obolibrary.org/obo/MONDO_0009001 coloboma of macula and skeletal anomalies ordo_malformation_syndrome MONDO:0009000 familial reactive perforating collagenosis biolink:Disease mondo GARD:0013331|UMLS:C1857624|ICD10:L87.1|OMIM:216700|MESH:C565687|Orphanet:79147 Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. MESH:C565687|ORPHA:79147|http://identifiers.org/omim/216700|UMLS:C1857624 http://purl.obolibrary.org/obo/MONDO_0009000 collagenosis, familial reactive perforating; RPC|inherited reactive perforating collagenosis|collagenosis, familial reactive perforating|RPC ordo_disease|gard_rare MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction biolink:Disease mondo OMIM:268315|MESH:C564829|UMLS:C1849333 http://identifiers.org/omim/268315|UMLS:C1849333|MESH:C564829 http://purl.obolibrary.org/obo/MONDO_0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction MONDO:0012663 Plasmodium falciparum fever episodes quantitative trait locus 1 biolink:Disease mondo OMIM:611384 http://identifiers.org/omim/611384 http://purl.obolibrary.org/obo/MONDO_0012663 Plasmodium falciparum fever episodes quantitative trait locus 1|malaria fever episodes quantitative trait locus 1|Plasmodium falciparum fever episodes quantitative trait locus type 1|Pffe1 HGNC:4177 GBA biolink:OntologyClass mondo http://identifiers.org/hgnc/4177 MONDO:0012664 spastic ataxia 3 biolink:Disease mondo MESH:C566956|Orphanet:314603|UMLS:C1969645|UMLS:CN230089|DOID:0050942|OMIM:611390|ICD10:G11.4 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene. UMLS:CN230089|http://identifiers.org/omim/611390|MESH:C566956|DOID:0050942|ORPHA:314603|UMLS:C1969645 http://purl.obolibrary.org/obo/MONDO_0012664 autosomal recessive spastic ataxia with leukoencephalopathy|autosomal recessive spastic ataxia type 3|spastic ataxia 3, autosomal recessive; SPAX3|spastic ataxia type 3|MARS2 autosomal recessive spastic ataxia|spastic ataxia 3, autosomal recessive|ARSAL|SPAX3|autosomal recessive spastic ataxia caused by mutation in MARS2 ordo_disease MONDO:0010002 Rothmund-Thomson syndrome biolink:Disease mondo UMLS:C0032339|Orphanet:2909|DOID:2732|MESH:D011038|GARD:0004392|OMIMPS:268400|NCIT:C3335|SCTID:69093006|ICD10:Q82.8|ICD9:759.89 Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers. SNOMEDCT:69093006|UMLS:C0032339|NCIT:C3335|ORPHA:2909|MESH:D011038|DOID:2732 http://purl.obolibrary.org/obo/MONDO_0010002 poikiloderma of Rothmund-Thomson|Rothmund-Thomson syndrome|Rothmund-Thomson syndrome; RTS|RTS|poikiloderma congenitale|congenital poikiloderma|RTS|poikiloderma atrophicans and cataract ordo_disease MONDO:0012661 susceptibility to visceral leishmaniasis, 3 biolink:Disease mondo OMIM:611382 http://identifiers.org/omim/611382 http://purl.obolibrary.org/obo/MONDO_0012661 leishmaniasis, visceral, susceptibility to, 3|kala-AZAR, susceptibility to, 3; KAZA3|kala-AZAR, susceptibility to, 3|KAZA3 predisposition HGNC:4175 GATM biolink:OntologyClass mondo http://identifiers.org/hgnc/4175 HGNC:33235 PWRN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/33235 MONDO:0010001 ectodermal dysplasia-blindness syndrome biolink:Disease mondo GARD:0000293|OMIM:268320|Orphanet:1806|ICD10:Q87.8|MESH:C535865|UMLS:C1849332 Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. ORPHA:1806|http://identifiers.org/omim/268320|UMLS:C1849332|MESH:C535865 http://purl.obolibrary.org/obo/MONDO_0010001 microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities|microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities|RODRIGUES blindness ordo_malformation_syndrome MONDO:0012662 Usher syndrome type 2D biolink:Disease mondo ICD10:H35.5|DOID:0110840|OMIM:611383 Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene. http://identifiers.org/omim/611383|DOID:0110840 http://purl.obolibrary.org/obo/MONDO_0012662 Usher syndrome type IID|USHER syndrome, type IID|Usher syndrome caused by mutation in WHRN|USH2D|WHRN Usher syndrome|USHER syndrome, type IID; USH2D|Usher syndrome, type 2D HGNC:4174 GATA6 biolink:OntologyClass mondo http://identifiers.org/hgnc/4174 MONDO:0010004 EEC syndrome biolink:Disease mondo GARD:0002076|DC:0000689|Orphanet:1896|UMLS:C0406704|ICD10:Q82.4|OMIM:268650|DOID:0060782|NCIT:C148261|SCTID:39788007|UMLS:CN776907 EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). UMLS:CN776907|NCIT:C148261|SNOMEDCT:39788007|UMLS:C0406704|ORPHA:1896|http://identifiers.org/omim/268650|DOID:0060782 http://purl.obolibrary.org/obo/MONDO_0010004 ectrodactyly-ectodermal dysplasia-cleft syndrome|ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome|ectrodactyly-ectodermal dysplasia-clefting syndrome|Rudiger syndrome 1|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate|Walker-Clodius syndrome|ectrodactyly-cleft lip/palate syndrome|RUDIGER syndrome ordo_malformation_syndrome|gard_rare MONDO:0012667 dilated cardiomyopathy 1W biolink:Disease mondo MESH:C566954|UMLS:C1969639|DOID:0110446|ICD10:I42.0|OMIM:611407 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. http://identifiers.org/omim/611407|MESH:C566954|DOID:0110446|UMLS:C1969639 http://purl.obolibrary.org/obo/MONDO_0012667 cardiomyopathy, dilated, type 1W|cardiomyopathy, dilated, 1W; CMD1W|cardiomyopathy, dilated, 1W|VCL familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in VCL|CMD1W|dilated cardiomyopathy type 1W HGNC:4173 GATA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/4173 MONDO:0010003 Rowley-Rosenberg syndrome biolink:Disease mondo UMLS:C0268426|SCTID:53783003|OMIM:268500|MESH:C535874|GARD:0008556 UMLS:C0268426|http://identifiers.org/omim/268500|MESH:C535874|SNOMEDCT:53783003 http://purl.obolibrary.org/obo/MONDO_0010003 Growth retardation, pulmonary hypertension, and amino aciduria|Growth retardation, pulmonary hypertension, and aminoaciduria|Rowley-Rosenberg syndrome gard_rare MONDO:0012668 Tented eyebrows biolink:Disease mondo OMIM:611426 http://identifiers.org/omim/611426 http://purl.obolibrary.org/obo/MONDO_0012668 Tented eyebrows HGNC:4172 GATA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4172 MONDO:0010006 Sandhoff disease biolink:Disease mondo MESH:D012497|NCIT:C85052|ICD10:E75.0|SCTID:23849003|DOID:3323|Orphanet:796|GARD:0002521|UMLS:C0036161|OMIM:268800|ICD10:E75.01|GARD:0007604 Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration. SNOMEDCT:23849003|MESH:D012497|UMLS:C0036161|ORPHA:796|DOID:3323|http://identifiers.org/omim/268800|NCIT:C85052 http://purl.obolibrary.org/obo/MONDO_0010006 Sandhoff disease, infantile type|GM2 gangliosidosis, 0 variant|GM2 gangliosidosis, type 2|GM2 gangliosidosis 0 variant|Sandhoff-Jatzkewitz-Pilz disease|Hexosaminidases a and B deficiency|Hexosaminidases A and B deficiency|Sandhoff Jatzkewitz disease|Beta-hexosaminidase-beta-subunit deficiency|Sandhoff disease, juvenile type|GM2-gangliosidosis, type 2|Sandhoff disease|total hexosaminidase deficiency|Sandhoff disease, adult type|hexosaminidase A and B deficiency disease ordo_disease|gard_rare MONDO:0012665 cataract 33 biolink:Disease mondo Orphanet:217046|DOID:0110264|MESH:C566955|OMIM:611391|Orphanet:217052|UMLS:C3808107|ICD10:Q12.0 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene. http://identifiers.org/omim/611391|DOID:0110264|MESH:C566955|UMLS:C3808107|ORPHA:217052|ORPHA:217046 http://purl.obolibrary.org/obo/MONDO_0012665 CTRCT33|cataract 33|cortical cataract 33|cataract 33, multiple types|BFSP1 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in BFSP1|cataract 33, cortical|cataract type 33|cataract 33, multiple types; CTRCT33|cataract 33; CTRCT33 HGNC:4171 GATA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4171 MONDO:0010005 saccharopinuria biolink:Disease mondo ICD10:E72.3|MESH:C537218|UMLS:C0268556|ICD9:270.7|SCTID:111397004|Orphanet:3124|GARD:0000314|OMIM:268700 Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. SNOMEDCT:111397004|ORPHA:3124|UMLS:C0268556|MESH:C537218|UMLS:C2936921|http://identifiers.org/omim/268700 http://purl.obolibrary.org/obo/MONDO_0010005 saccharopine dehydrogenase deficiency|hyperlysinemia type II|hyperlysinemia, type 2|Alpha-aminoadipic semialdehyde synthase deficiency|saccharopinuria ordo_disease MONDO:0012666 asthma-related traits, susceptibility to, 6 biolink:Disease mondo OMIM:611403 http://identifiers.org/omim/611403 http://purl.obolibrary.org/obo/MONDO_0012666 ASRT6|asthma-related traits, susceptibility to, type 6|asthma-related traits, susceptibility to, 6 predisposition HGNC:4170 GATA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4170 MONDO:0024638 pancreatic gastrinoma biolink:Disease mondo NCIT:C95596 A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption. NCIT:C95596 http://purl.obolibrary.org/obo/MONDO_0024638 pancreatic gastrinoma MONDO:0024637 malignant soft tissue neoplasm biolink:Disease mondo NCIT:C4867|SCTID:269469005 A malignant neoplasm arising exclusively from the soft tissues. SNOMEDCT:269469005|NCIT:C4867 http://purl.obolibrary.org/obo/MONDO_0024637 malignant tumor of the soft tissue|malignant tumor of soft tissue|malignant soft tissue neoplasm|malignant neoplasm of the soft tissue|malignant neoplasm of soft tissue|malignant soft tissue tumor MONDO:0000669 color agnosia biolink:Disease mondo DOID:0060139 An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. DOID:0060139 http://purl.obolibrary.org/obo/MONDO_0000669 NCBITaxon:41828 Chironomoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41828 MONDO:0024639 gastric enterochromaffin cell serotonin-producing neuroendocrine tumor biolink:Disease mondo UMLS:C3274137|NCIT:C27443 A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome. NCIT:C27443|UMLS:C3274137 http://purl.obolibrary.org/obo/MONDO_0024639 gastric EC cell serotonin-producing NET|gastric enterochromaffin cell serotonin-producing neuroendocrine tumor|gastric EC-cell serotonin-producing neuroendocrine tumor MONDO:0000668 autotopagnosia biolink:Disease mondo DOID:0060138 An agnosia that is a loss of the ability to orient parts of the body. DOID:0060138 http://purl.obolibrary.org/obo/MONDO_0000668 MONDO:0012660 susceptibility to visceral leishmaniasis, 2 biolink:Disease mondo OMIM:611381 http://identifiers.org/omim/611381 http://purl.obolibrary.org/obo/MONDO_0012660 KAZA2|kala-AZAR, susceptibility to, 2; KAZA2|leishmaniasis, visceral, susceptibility to, 2|kala-AZAR, susceptibility to, 2 predisposition MONDO:0024630 defective phagocytic cell chemotaxis biolink:Disease mondo SCTID:234580003|ICD9:279.8|UMLS:C0398735 UMLS:C0398735|SNOMEDCT:234580003 http://purl.obolibrary.org/obo/MONDO_0024630 defective phagocytic cell chemotaxis CHEBI:28616 carbamic acid biolink:ChemicalSubstance mondo A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. http://purl.obolibrary.org/obo/CHEBI_28616 Aminoameisensaeure|Carbamic acid|CARBAMIC ACID|carbamic acid|Carbamate|Carbamidsaeure|Aminoformic acid MONDO:0000685 visual agnosia (disease) biolink:Disease mondo NCIT:C35276|SCTID:25762009|DOID:0060155|HP:0030222 An inability to recognize or interpret objects by sight. NCIT:C35276|SNOMEDCT:25762009|DOID:0060155 http://purl.obolibrary.org/obo/MONDO_0000685 visual agnosia|visuoperceptual agnosia MONDO:0000684 verbal auditory agnosia biolink:Disease mondo DOID:0060154 An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. DOID:0060154 http://purl.obolibrary.org/obo/MONDO_0000684 MONDO:0024632 defective phagocytic cell opsonization biolink:Disease mondo UMLS:C0398733|SCTID:234578009 SNOMEDCT:234578009|UMLS:C0398733 http://purl.obolibrary.org/obo/MONDO_0024632 defective phagocytic cell opsonization MONDO:0000683 topographical agnosia biolink:Disease mondo SCTID:83824009|DOID:0060153 An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. DOID:0060153|SNOMEDCT:83824009 http://purl.obolibrary.org/obo/MONDO_0000683 NCBITaxon:41820 Culicoides organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41820 punkies|Culicoides MONDO:0000682 time agnosia biolink:Disease mondo DOID:0060152 An agnosia that is a loss of the ability to comprehend the succession and duration of events. DOID:0060152 http://purl.obolibrary.org/obo/MONDO_0000682 MONDO:0024634 large intestine disease biolink:Disease mondo SCTID:119523007|UMLS:C0341321 A disease that involves the large intestine. SNOMEDCT:119523007|UMLS:C0341321 http://purl.obolibrary.org/obo/MONDO_0024634 disorder of large intestine|disease of large intestine|disorder of large intestine|disease or disorder of large intestine|large intestine disease or disorder NCBITaxon:41827 Culicoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41827 MONDO:0000689 obsolete survival motor neuron spinal muscular atrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000689 MONDO:0024633 hypertensive renal disease biolink:Disease mondo ICD9:403.90|NCIT:C4757|SCTID:38481006 Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. NCIT:C4757|SNOMEDCT:38481006 http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive nephropathy|hypertensive renal disease|hypertensive nephropathy MONDO:0000688 inherited organic acidemia biolink:Disease mondo GARD:0009433|UMLS:C1263739|NCIT:C101334|ICD9:277.89|Orphanet:289899|DOID:0060159 An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. NCIT:C101334|DOID:0060159|UMLS:C1263739|ORPHA:289899 http://purl.obolibrary.org/obo/MONDO_0000688 organic aciduria|rare inborn error of organic acid metabolic process|organic acidemia|inborn error of organic acid metabolic process|disorder of organic acid metabolism|organic acid metabolism disorder|inborn organic acid metabolic process disorder|rare inborn error of organic acid metabolic process ordo_group_of_disorders|gard_rare HP:0011400 Abnormal CNS myelination biolink:PhenotypicFeature mondo UMLS:C4021152 An abnormality of myelination of nerves in the central nervous system. http://purl.obolibrary.org/obo/HP_0011400 Abnormal formation of myelin sheaths MONDO:0024636 inflammation of heart layer biolink:Disease mondo ICD9:429.89|SCTID:399617002 An inflammatory disease involving a pathogenic inflammatory response in the heart layer. SNOMEDCT:399617002 http://purl.obolibrary.org/obo/MONDO_0024636 heart layer inflammation|carditis MONDO:0000687 diffuse alopecia areata biolink:Disease mondo MESH:C531609|DOID:0060157|SCTID:46586006 An alopecia areata that involves diffuse loss of hair over the whole scalp. MESH:C531609|SNOMEDCT:46586006|DOID:0060157 http://purl.obolibrary.org/obo/MONDO_0000687 marginal alopecia|Cazenave's vitiligo|alopecia celsi|patchy alopecia|Jonston's alopecia|Celsus' vitiligo MONDO:0000686 alexia without agraphia biolink:Disease mondo DOID:0060156|MESH:D020237 Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483) DOID:0060156|MESH:D020237 http://purl.obolibrary.org/obo/MONDO_0000686 without agraphia, alexia|agraphia, alexia without|agnosia, visual verbal|visual verbal Agnosias|Pure alexias|Blindnesses, Pure Word|blindness, Pure Word|verbal agnosia, visual|Word blindness, Pure|alexia syndrome without agraphia|without Agraphias, alexia|Agraphias, alexia without|Word Blindnesses, Pure|Pure alexia without agraphia|Pure Word blindness|visual verbal agnosia|Pure alexia|alexia without agraphia|Pure Word Blindnesses|alexia without Agraphias|Agnosias, visual verbal|alexias, Pure|verbal Agnosias, visual MONDO:0024635 small intestine disease biolink:Disease mondo UMLS:C0341268|SCTID:119522002 A disease that involves the small intestine. SNOMEDCT:119522002|UMLS:C0341268 http://purl.obolibrary.org/obo/MONDO_0024635 small intestine disease or disorder|disorder of small intestine|disease of small intestine|disorder of small intestine|disease or disorder of small intestine MONDO:0009019 congenital hereditary endothelial dystrophy of cornea biolink:Disease mondo Orphanet:293603|ICD10:H18.5|DOID:0060649|OMIM:217700|GARD:0006196|MESH:C536439 Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision. MESH:C536439|DOID:0060649|ORPHA:293603|http://identifiers.org/omim/217700 http://purl.obolibrary.org/obo/MONDO_0009019 corneal endothelial dystrophy|corneal endothelial dystrophy 2, autosomal recessive; CHED2|corneal endothelial dystrophy 2, autosomal recessive|CHEDII|Maumenee corneal dystrophy|congenital hereditary endothelial dystrophy of the cornea|corneal dystrophy, congenital hereditary endothelial|CHED2|congenital hereditary endothelial dystrophy type II|autosomal recessive congenital hereditary endothelial dystrophy|corneal endothelial dystrophy; CHED|corneal endothelial dystrophy 2, autosomal recessive, formerly|autosomal recessive CHED|congenital hereditary endothelial dystrophy type 2|CHED|CHED2, formerly|corneal endothelial dystrophy type 2|corneal endothelial dystrophy 2|infantile hereditary endothelial dystrophy|congenital hereditary endothelial dystrophy of cornea ordo_disease|gard_rare MONDO:0012649 obsolete FTSD biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012649 HGNC:4180 GBE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4180 MONDO:0009018 central cloudy dystrophy of François biolink:Disease mondo MESH:C563262|ICD10:H18.5|UMLS:C1622427|SCTID:419074008|Orphanet:98972|OMIM:217600 Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision. ORPHA:98972|MESH:C563262|SNOMEDCT:419074008|http://identifiers.org/omim/217600|UMLS:C1622427 http://purl.obolibrary.org/obo/MONDO_0009018 CCDF|central cloudy dystrophy of Francois|central cloudy corneal dystrophy of François|central cloudy dystrophy of Francois; CCDF|corneal dystrophy, central type|central cloudy dystrophy of François ordo_disease MONDO:0009017 corneal degeneration, band-shaped spheroid biolink:Disease mondo OMIM:217520 http://identifiers.org/omim/217520 http://purl.obolibrary.org/obo/MONDO_0009017 corneal degeneration, band-shaped spheroid MONDO:0012647 obsolete generalized epilepsy with febrile seizures plus, type 3 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012647 MONDO:0009016 band keratopathy biolink:Disease mondo MESH:C562399|NCIT:C118765|UMLS:C0155120|OMIM:217500|COHD:436695|ICD9:371.43|DOID:11164|ICD10:H18.42|SCTID:35055000 The deposition of calcium on the cornea, resulting in pain and decreased visual acuity. SNOMEDCT:35055000|UMLS:C0155120|DOID:11164|MESH:C562399|http://identifiers.org/omim/217500|NCIT:C118765 http://purl.obolibrary.org/obo/MONDO_0009016 corneal dystrophy, band-SHAPED|band keratopathy|band-shaped keratopathy MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency biolink:Disease mondo OMIM:611283|Orphanet:79159|ICD10:E71.1|UMLS:C1969809|NCIT:C129975|GARD:0010223|MESH:C535541 Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). UMLS:C1969809|http://identifiers.org/omim/611283|NCIT:C129975|MESH:C535541|ORPHA:79159 http://purl.obolibrary.org/obo/MONDO_0012648 IBD deficiency|isobutyryl-CoA dehydrogenase deficiency|isobutyric aciduria|Acad8 deficiency|acyl-CoaA dehydrogenase family, member 8, deficiency of|acyl-Coa dehydrogenase family, member 8, deficiency of ordo_disease|gard_rare MONDO:0009015 corneal dystrophy-perceptive deafness syndrome biolink:Disease mondo MESH:C535473|SCTID:720749004|Orphanet:1490|OMIM:217400|GARD:0001529|UMLS:C1857572|ICD10:H18.5 Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss. SNOMEDCT:720749004|MESH:C535473|http://identifiers.org/omim/217400|UMLS:C1857572|ORPHA:1490 http://purl.obolibrary.org/obo/MONDO_0009015 CDPD|corneal dystrophy and sensorineural deafness|corneal dystrophy and perceptive deafness|corneal dystrophy and perceptive deafness; CDPD|corneal dystrophy with progressive deafness|Cdpd1|Harboyan syndrome|congenital corneal dystrophy, progressive sensorineural deafness ordo_malformation_syndrome MONDO:0000681 tactile agnosia biolink:Disease mondo DOID:0060151 An agnosia that is a loss of the ability to recognize or identify objects by touch alone. DOID:0060151 http://purl.obolibrary.org/obo/MONDO_0000681 MONDO:0000680 astereognosia (disease) biolink:Disease mondo HP:0010527|DOID:0060150 An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. DOID:0060150 http://purl.obolibrary.org/obo/MONDO_0000680 somatosensory agnosia|astereognosia MONDO:0009014 cornea plana 2 biolink:Disease mondo OMIM:217300|UMLS:C1857574|MESH:C565677 Any cornea plana in which the cause of the disease is a mutation in the KERA gene. MESH:C565677|http://identifiers.org/omim/217300|UMLS:C1857574 http://purl.obolibrary.org/obo/MONDO_0009014 cornea plana 2, autosomal recessive; CNA2|cornea plana 2; CNA2|cornea plana 2, autosomal recessive|cornea plana 2|cornea plana caused by mutation in KERA|cornea plana type 2|CNA2|KERA cornea plana MONDO:0009013 convulsive disorder, familial, with prenatal or early onset biolink:Disease mondo OMIM:217200|UMLS:C1857575|MESH:C565678 http://identifiers.org/omim/217200|UMLS:C1857575|MESH:C565678 http://purl.obolibrary.org/obo/MONDO_0009013 convulsive disorder, familial, with prenatal or early onset HGNC:21253 LHFPL5 biolink:OntologyClass mondo http://identifiers.org/hgnc/21253 MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome biolink:Disease mondo ICD10:Q87.8|GARD:0003361|OMIM:217150|MESH:C565679|UMLS:C1857576|Orphanet:2215 Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. http://identifiers.org/omim/217150|ORPHA:2215|UMLS:C1857576|MESH:C565679 http://purl.obolibrary.org/obo/MONDO_0009012 malignant hyperthermia arthrogryposis torticollis|malignant hyperthermia - arthrogryposis - torticollis|froster-Iskenius-Waterson-Hall syndrome|froster-Iskenius-Waterson syndrome|malignant hyperthermia-arthrogryposis-torticollis syndrome|contractures, congenital, torticollis, and malignant hyperthermia ordo_malformation_syndrome|gard_rare MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L biolink:Disease mondo MESH:C566968|DOID:0110284|OMIM:611307|UMLS:C1969785|Orphanet:206549|GARD:0012536|ICD10:G71.0 Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. http://identifiers.org/omim/611307|MESH:C566968|DOID:0110284|ORPHA:206549|UMLS:C1969785 http://purl.obolibrary.org/obo/MONDO_0012652 muscular dystrophy, limb-girdle, type 2L; LGMD2L|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5|ANO5 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2L|muscular dystrophy, limb-girdle, type 2L|LGMD2L ordo_disease MONDO:0009011 constriction rings syndrome biolink:Disease mondo OMIM:217100|ICD10:Q79.8|Orphanet:295000 Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. http://identifiers.org/omim/217100|ORPHA:295000 http://purl.obolibrary.org/obo/MONDO_0009011 terminal transverse defects of arm|Adam Complex|CONSTRICTING bands, congenital|constriction band syndrome|amputation, congenital|Streeter dysplasia|Streeter anomaly|congenital ring constrictions|amniotic band sequence ordo_malformation_syndrome MONDO:0012653 PHPVAD biolink:Disease mondo UMLS:C1969784|OMIM:611308 http://identifiers.org/omim/611308|UMLS:C1969784 http://purl.obolibrary.org/obo/MONDO_0012653 persistent hyperplastic primary vitreous, autosomal dominant; PHPVAD|PHPVAD|persistent hyperplastic primary vitreous, autosomal dominant MONDO:0009010 aortic arch interruption biolink:Disease mondo ICD10:Q20.1|ICD9:745.11|MedDRA:10022599|ICD10:Q25.21|ICD10:Q25.4|GARD:0000740|Orphanet:2299 Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths. UMLS:C0152419|ORPHA:2299|MEDDRA:10022599 http://purl.obolibrary.org/obo/MONDO_0009010 gard_rare|ordo_morphological_anomaly MONDO:0012650 Cernunnos-XLF deficiency biolink:Disease mondo ICD10:D81.1|SCTID:720853005|Orphanet:169079|UMLS:C1969799|MESH:C566970|OMIM:611291 Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. http://identifiers.org/omim/611291|MESH:C566970|ORPHA:169079|UMLS:C1969799|SNOMEDCT:720853005 http://purl.obolibrary.org/obo/MONDO_0012650 combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation|severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency|Nhej1 syndrome|Cernunnos deficiency|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency|Cernunnos XLFD|NHEJ1 deficiency ordo_disease MONDO:0012651 spastic ataxia 2 biolink:Disease mondo MESH:C566969|ICD10:G11.4|DOID:0050941|Orphanet:397946|UMLS:C1969796|OMIM:611302 Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs. http://identifiers.org/omim/611302|MESH:C566969|DOID:0050941|UMLS:C1969796|ORPHA:397946 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2, autosomal recessive|spastic ataxia caused by mutation in KIF1C|KIF1C spastic ataxia|SPG58|SPAX2|spastic ataxia type 2|autosomal recessive spastic paraplegia type 58|autosomal recessive spastic ataxia type 2|spastic ataxia 2, autosomal recessive; SPAX2 ordo_disease MONDO:0012656 lethal congenital contracture syndrome 3 biolink:Disease mondo ICD10:Q68.8|OMIM:611369|UMLS:C4275144|UMLS:C1969655|Orphanet:137783|GARD:0012644|DOID:0060653|MESH:C566961|SCTID:715420005 Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement. DOID:0060653|SNOMEDCT:715420005|UMLS:C4275144|ORPHA:137783|http://identifiers.org/omim/611369|MESH:C566961|UMLS:C1969655 http://purl.obolibrary.org/obo/MONDO_0012656 lethal congenital contracture syndrome 3; LCCS3|lethal congenital contracture syndrome 3|lethal congenital contracture syndrome caused by mutation in PIP5K1C|lethal congenital contracture syndrome type 3|LCCS3|Israeli Bedouin type B multiple contracture syndrome|PIP5K1C lethal congenital contracture syndrome|multiple contracture syndrome, Israeli Bedouin type B ordo_malformation_syndrome|gard_rare MONDO:0012657 Mungan syndrome biolink:Disease mondo MESH:C548078|GARD:0010687|OMIM:611376 http://identifiers.org/omim/611376|MESH:C548078 http://purl.obolibrary.org/obo/MONDO_0012657 visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities|pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities|pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities|visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities|MUNGAN syndrome; MGS|MGS|MUNGAN syndrome MONDO:0012654 atrial heart septal defect 4 biolink:Disease mondo UMLS:C1969657|OMIM:611363|MESH:C566963|DOID:0110109|ICD10:Q21.1 Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene. http://identifiers.org/omim/611363|DOID:0110109|MESH:C566963|UMLS:C1969657 http://purl.obolibrary.org/obo/MONDO_0012654 ASD4|TBX20 atrial heart septal defect|atrial septal defect type 4|atrial septal defect 4; ASD4|atrial heart septal defect caused by mutation in TBX20|atrial septal defect 4|atrial heart septal defect type 4 MONDO:0012655 EJM4 biolink:Disease mondo UMLS:C1969656|OMIM:611364 http://identifiers.org/omim/611364|UMLS:C1969656 http://purl.obolibrary.org/obo/MONDO_0012655 EJM4|myoclonic epilepsy, juvenile, susceptibility to, 4|myoclonic epilepsy, juvenile, susceptibility to, 4; EJM4 predisposition MONDO:0024627 phagocytic cell dysfunction biolink:Disease mondo UMLS:C0398732|SCTID:302874002 SNOMEDCT:302874002|UMLS:C0398732 http://purl.obolibrary.org/obo/MONDO_0024627 defective phagocytosis|phagocytic cell dysfunction NCBITaxon:41819 Ceratopogonidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41819 biting midges|no-see-ums MONDO:0024626 defective phagocytic cell engulfment biolink:Disease mondo SCTID:234585008|UMLS:C0398742 SNOMEDCT:234585008|UMLS:C0398742 http://purl.obolibrary.org/obo/MONDO_0024626 defective phagocytic cell killing MONDO:0000679 social emotional agnosia biolink:Disease mondo DOID:0060149 An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. DOID:0060149 http://purl.obolibrary.org/obo/MONDO_0000679 expressive agnosia HGNC:4189 GCDH biolink:OntologyClass mondo http://identifiers.org/hgnc/4189 MONDO:0000652 integumentary system benign neoplasm biolink:Disease mondo DOID:0060121 A benign neoplasm that involves the integumental system. DOID:0060121 http://purl.obolibrary.org/obo/MONDO_0000652 integumental system benign neoplasm MONDO:0000651 thoracic disease biolink:Disease mondo NCIT:C35742|SCTID:118946009|MESH:D013896|DOID:0060118|SCTID:609622007|UMLS:C3661979|UMLS:C0039978 A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. UMLS:C3661979|SNOMEDCT:609622007|UMLS:C0039978|NCIT:C35742|MESH:D013896|SNOMEDCT:118946009|DOID:0060118 http://purl.obolibrary.org/obo/MONDO_0000651 disorder of thoracic segment of trunk|thoracic disease|disorder of thorax|thoracic segment of trunk disease|disorder of thoracic segment of trunk|thoracic disorder|disease or disorder of thoracic segment of trunk|disease of thoracic segment of trunk|thoracic segment of trunk disease or disorder MONDO:0000650 peritoneal benign neoplasm biolink:Disease mondo DOID:0060117|NCIT:C8612|UMLS:C0496874 A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis. UMLS:C0496874|NCIT:C8612|DOID:0060117 http://purl.obolibrary.org/obo/MONDO_0000650 benign peritoneal neoplasm|peritoneum benign neoplasm MONDO:0024621 serous cystadenocarcinoma biolink:Disease mondo NCIT:C3778|ICDO:8441/3 A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures. NCIT:C3778 http://purl.obolibrary.org/obo/MONDO_0024621 serous cystadenocarcinoma|serous adenocarcinoma MONDO:0024620 meningitis caused by poliovirus biolink:Disease mondo SCTID:721765009|UMLS:C4303134 UMLS:C4303134|SNOMEDCT:721765009 http://purl.obolibrary.org/obo/MONDO_0024620 meningitis caused by human poliovirus|polio virus meningitis MONDO:0024623 otorhinolaryngologic disease biolink:Disease mondo UMLS:C0395797|ICD9:478.19|MESH:D010038|UMLS:C0029896|SCTID:232208008|NCIT:C118420 Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. UMLS:C0395797|SNOMEDCT:232208008|UMLS:C0029896|NCIT:C118420|MESH:D010038 http://purl.obolibrary.org/obo/MONDO_0024623 ENT diseases|disease, ENT|otolaryngologic disease|disease, otolaryngological|diseases, otorhinolaryngologic|disease, otorhinolaryngological|otolaryngologic diseases|ENT disease|ear/nose/throat disease|otolaryngological disease|otorhinolaryngological disease|diseases, otorhinolaryngological|diseases, otolaryngologic|ear, nose or throat disorder|otolaryngologic disorder|ear, nose and throat disorder|diseases, ENT|otorhinolaryngologic disease|disease, otorhinolaryngologic|otolaryngological diseases|diseases, otolaryngological|otorhinolaryngological diseases|disease, otolaryngologic MONDO:0000656 obsolete alpha chain disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000656 MONDO:0024622 thyroid gland adenocarcinoma biolink:Disease mondo NCIT:C27380 An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). NCIT:C27380 http://purl.obolibrary.org/obo/MONDO_0024622 thyroid adenocarcinoma|thyroid gland adenocarcinoma MONDO:0000655 obsolete heavy chain disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000655 MONDO:0024625 disorder of lacrimal gland biolink:Disease mondo SCTID:95766002|UMLS:C0235228 A disease that involves the lacrimal gland. SNOMEDCT:95766002|UMLS:C0235228 http://purl.obolibrary.org/obo/MONDO_0024625 disorder of lacrimal gland|disease or disorder of lacrimal gland|disease of lacrimal gland|lacrimal gland disease|lacrimal gland disease or disorder MONDO:0000654 benign connective and soft tissue neoplasm biolink:Disease mondo NCIT:C53684|COHD:374882|DOID:0060123 A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. NCIT:C53684|DOID:0060123 http://purl.obolibrary.org/obo/MONDO_0000654 benign mesenchymal cell neoplasm|soft tissue benign neoplasm|benign tumor of the soft tissue and bone|tumor of the soft tissue|neoplasm of soft tissue|benign neoplasm of the soft tissue and bone|benign connective and soft tissue neoplasm|neoplasm of soft tissues|benign connective and soft tissue tumor|connective and soft tissue neoplasm, benign|connective tissue benign neoplasm MONDO:0000653 integumentary system cancer biolink:Disease mondo DOID:0060122 A malignant neoplasm involving the integumental system DOID:0060122 http://purl.obolibrary.org/obo/MONDO_0000653 malignant neoplasm of integumental system|cancer of integumental system|integumental system cancer|malignant integumental system neoplasm MONDO:0024624 obsolete atrophy of lacrimal gland biolink:Disease mondo SCTID:91951001|UMLS:C0339119 A degenerative disorder that involves the lacrimal gland. SNOMEDCT:91951001|UMLS:C0339119 http://purl.obolibrary.org/obo/MONDO_0024624 degenerative disorder of lacrimal gland|lacrimal gland degenerative disorder|lacrimal atrophy|atrophy of lacrimal gland MONDO:0012638 microphthalmia-brain atrophy syndrome biolink:Disease mondo SCTID:720010009|GARD:0009292|ICD10:Q11.2|Orphanet:77299|OMIM:611222|MESH:C566985 Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. MESH:C566985|ORPHA:77299|SNOMEDCT:720010009|http://identifiers.org/omim/611222 http://purl.obolibrary.org/obo/MONDO_0012638 microphthalmia and brain atrophy|MOBA|syndromic microphthalmia type 10|MOBA syndrome|microphthalmia, syndromic 10|microphthalmia syndromic 10|microphthalmia, syndromic 10; MCOPS10|MCOPS10 gard_rare|ordo_malformation_syndrome MONDO:0012639 hereditary spastic paraplegia 18 biolink:Disease mondo ICD10:G11.4|GARD:0004922|Orphanet:209951|DOID:0110771|MESH:C567628|OMIM:611225|SCTID:732932004 A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. ORPHA:209951|UMLS:C2749936|DOID:0110771|SNOMEDCT:732932004|MESH:C567628|http://identifiers.org/omim/611225 http://purl.obolibrary.org/obo/MONDO_0012639 autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2|spastic paraplegia 18, autosomal recessive|IDMDC|autosomal recessive spastic paraplegia type 18|SPG18|hereditary spastic paraplegia type 18|spastic paraplegia 18|intellectual disability, motor dysfunction and joint contractures|spastic paraplegia 18, autosomal recessive; SPG18|ERLIN2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 18|intellectual disability, motor dysfunction, and Joint contractures ordo_disease MONDO:0012636 restless legs syndrome, susceptibility to, 6 biolink:Disease mondo OMIM:611185|GARD:0010273 http://identifiers.org/omim/611185 http://purl.obolibrary.org/obo/MONDO_0012636 restless legs syndrome, susceptibility to, 6|periodic limb movements in sleep|RLS6|restless legs syndrome, susceptibility to, 6; RLS6 predisposition MONDO:0012637 COG1-CDG biolink:Disease mondo Orphanet:263508|GARD:0010226|OMIM:611209|ICD10:E77.8|DOID:0070259|MESH:C535756|SCTID:718750004 COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. MESH:C535756|ORPHA:263508|DOID:0070259|SNOMEDCT:718750004|http://identifiers.org/omim/611209 http://purl.obolibrary.org/obo/MONDO_0012637 CDG2G|CDG IIg|congenital disorder of glycosylation, type IIg|congenital disorder of glycosylation type IIg|congenital disorder of glycosylation, type IIg; CDG2G|CDG syndrome type IIg|congenital disorder of glycosylation type 2g|COG1-CDG (CDG-IIg)|CDG 2G|CDG-IIg|carbohydrate deficient glycoprotein syndrome type IIg|Cdgii/Cog1 Cerebrocostomandibular-like syndrome ordo_disease MONDO:0012641 restless legs syndrome, susceptibility to, 5 biolink:Disease mondo GARD:0010272|OMIM:611242 http://identifiers.org/omim/611242 http://purl.obolibrary.org/obo/MONDO_0012641 restless legs syndrome, susceptibility to, 5|RLS5|RLS 5|restless legs syndrome, susceptibility to, 5; RLS5 predisposition NCBITaxon:28845 Diphyllobothrium dendriticum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_28845 MONDO:0012642 major affective disorder 4 biolink:Disease mondo MESH:C567073|OMIM:611247 MESH:C567073|http://identifiers.org/omim/611247 http://purl.obolibrary.org/obo/MONDO_0012642 MAFD4|major affective disorder 4|bipolar affective disorder|MAJOR affective disorder 4; MAFD4 HGNC:4198 GCM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4198 NCBITaxon:28843 Diphyllobothriidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_28843 Ligulidae MONDO:0012640 Charcot-Marie-Tooth disease type 4J biolink:Disease mondo NCIT:C134954|SCTID:720638000|UMLS:C1970011|DOID:0110184|Orphanet:139515|OMIM:611228|MESH:C566984|GARD:0012443|ICD10:G60.0 Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. ORPHA:139515|SNOMEDCT:720638000|UMLS:C1970011|NCIT:C134954|http://identifiers.org/omim/611228|MESH:C566984|DOID:0110184 http://purl.obolibrary.org/obo/MONDO_0012640 Charcot-Marie-Tooth disease, type 4J|Charcot-Marie-Tooth disease, autosomal recessive, type 4J|FIG4 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4|CMT4J|Charcot-Marie-Tooth disease, type 4J; CMT4J|autosomal recessive Charcot-Marie-Tooth disease type 4J ordo_disease|gard_rare NCBITaxon:28844 Diphyllobothrium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_28844 fish tapeworms|broad tapeworm|broad tapeworms MONDO:0012645 GLC1N biolink:Disease mondo OMIM:611274|UMLS:C1969812|MESH:C566977 UMLS:C1969812|http://identifiers.org/omim/611274|MESH:C566977 http://purl.obolibrary.org/obo/MONDO_0012645 JOAG1N|glaucoma 1, open angle, N|glaucoma 1, open angle, N; GLC1N|GLC1N HGNC:4195 GCK biolink:OntologyClass mondo http://identifiers.org/hgnc/4195 MONDO:0012646 GLC1H biolink:Disease mondo UMLS:C1969811|MESH:C566976|OMIM:611276 UMLS:C1969811|http://identifiers.org/omim/611276|MESH:C566976 http://purl.obolibrary.org/obo/MONDO_0012646 glaucoma 1, open angle, H; GLC1H|GLC1H|glaucoma 1, open angle, H MONDO:0012643 hereditary spastic paraplegia 32 biolink:Disease mondo DOID:0110783|UMLS:C1970009|SCTID:726606003|MESH:C566983|Orphanet:171622|UMLS:C4511958|GARD:0012749|ICD10:G11.4|OMIM:611252 Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. UMLS:C1970009|UMLS:C4511958|ORPHA:171622|http://identifiers.org/omim/611252|MESH:C566983|SNOMEDCT:726606003|DOID:0110783 http://purl.obolibrary.org/obo/MONDO_0012643 spastic paraplegia 32, autosomal recessive|spastic paraplegia 32|SPG32|hereditary spastic paraplegia type 32|autosomal recessive spastic paraplegia type 32|spastic paraplegia 32, autosomal recessive; SPG32|autosomal recessive spastic paraplegia 32 ordo_disease HGNC:4193 GCH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4193 MONDO:0012644 asphyxiating thoracic dystrophy 2 biolink:Disease mondo OMIM:611263|DOID:0110086|UMLS:C1970005|MESH:C566982|ICD10:Q77.2 Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. UMLS:C1970005|http://identifiers.org/omim/611263|DOID:0110086|MESH:C566982 http://purl.obolibrary.org/obo/MONDO_0012644 SRTD2|short-rib thoracic dysplasia 2 with or without polydactyly; SRTD2|Jeune syndrome caused by mutation in IFT80|asphyxiating thoracic dystrophy type 2|asphyxiating thoracic dystrophy 2|ATD2|short-rib thoracic dysplasia 2 with or without polydactyly|IFT80 Jeune syndrome HGNC:4192 GCGR biolink:OntologyClass mondo http://identifiers.org/hgnc/4192 HGNC:21219 CILK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21219 MONDO:0000649 sensory system cancer biolink:Disease mondo DOID:0060116 A malignant neoplasm involving the sensory system DOID:0060116 http://purl.obolibrary.org/obo/MONDO_0000649 malignant sensory system neoplasm|malignant neoplasm of sensory system|sensory system cancer|cancer of sensory system MONDO:0024616 tympanitis biolink:Disease mondo UMLS:C0027134|SCTID:14852000 An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane. UMLS:C0027134|SNOMEDCT:14852000 http://purl.obolibrary.org/obo/MONDO_0024616 inflammation of tympanic membrane|tympanic membrane inflammation|myringitis MONDO:0000648 nervous system benign neoplasm biolink:Disease mondo ICD9:225.8|NCIT:C4789|ICD9:225.9|UMLS:C0497550|SCTID:92247009|DOID:0060115|COHD:373432 Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas). DOID:0060115|UMLS:C0497550|NCIT:C4789|SNOMEDCT:92247009 http://purl.obolibrary.org/obo/MONDO_0000648 benign tumor of nervous system|benign tumor of the nervous system|benign neoplasm of nervous system|benign nervous system tumor|benign neoplasm of the nervous system|nervous system neoplasm, benign|benign nervous system neoplasm|nervous system benign neoplasm MONDO:0024615 T-cell and NK-cell neoplasm biolink:Disease mondo UMLS:C1336554|NCIT:C27908 NCIT:C27908|UMLS:C1336554 http://purl.obolibrary.org/obo/MONDO_0024615 T-cell neoplasm|T-cell and NK-cell neoplasm MONDO:0024618 poliovirus infection biolink:Disease mondo SCTID:721764008|UMLS:C4303135 An disease or disorder caused by infection with Enterovirus C. UMLS:C4303135|SNOMEDCT:721764008 http://purl.obolibrary.org/obo/MONDO_0024618 human poliovirus infection|infection caused by human poliovirus|Enterovirus C infectious disease|Enterovirus C caused disease or disorder|Enterovirus C disease or disorder MONDO:0000647 benign vaginal neoplasm biolink:Disease mondo COHD:201244|NCIT:C3610|ICD9:221.1|UMLS:C0154002|DOID:0060114|SCTID:92473001 A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus. DOID:0060114|UMLS:C0154002|NCIT:C3610|SNOMEDCT:92473001 http://purl.obolibrary.org/obo/MONDO_0000647 benign vaginal neoplasm|vaginal benign neoplasm|benign vaginal tumor|vagina female reproductive organ benign neoplasm|vagina benign neoplasm|benign tumor of vagina|benign vaginal neoplasms|benign tumor of the vagina|benign neoplasm of vagina|benign neoplasm of the vagina MONDO:0000646 ovarian benign neoplasm biolink:Disease mondo DOID:0060112|NCIT:C2895|SCTID:92260003|EFO:1000116|COHD:199764 A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma. SNOMEDCT:92260003|DOID:0060112|NCIT:C2895 http://purl.obolibrary.org/obo/MONDO_0000646 benign neoplasm of the ovary|benign neoplasm of ovary|benign tumor of the ovary|benign tumor of ovary|benign ovarian neoplasm|benign ovarian tumor|ovary benign neoplasm MONDO:0024617 xanthogranuloma biolink:Disease mondo SCTID:189099001|NCIT:C27302 NCIT:C27302|SNOMEDCT:189099001 http://purl.obolibrary.org/obo/MONDO_0024617 xanthogranuloma HP:0410243 Abnormal circulating IgM level biolink:PhenotypicFeature mondo An abnormal deviation from normal levels of IgM immunoglobulin in blood. http://purl.obolibrary.org/obo/HP_0410243 Abnormal IgM level in blood MONDO:0024619 central nervous system infectious disorder biolink:Disease mondo MESH:D002494|ICD9:349.89|UMLS:C0007684|NCIT:C27582|EFO:1001456|SCTID:128117002 An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis. SNOMEDCT:128117002|UMLS:C0007684|NCIT:C27582|MESH:D002494 http://purl.obolibrary.org/obo/MONDO_0024619 central nervous system infectious disorder|infectious disease of central nervous system|central nervous system infectious disease|infections, central nervous system|central nervous system infection MONDO:0000663 anosognosia biolink:Disease mondo DOID:0060133 An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. DOID:0060133 http://purl.obolibrary.org/obo/MONDO_0000663 MONDO:0000662 amusia biolink:Disease mondo UMLS:C0234497|DOID:0060132 An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. UMLS:C0234497|DOID:0060132 http://purl.obolibrary.org/obo/MONDO_0000662 receptive amusia MONDO:0024610 parasitic skin disease biolink:Disease mondo UMLS:C0037280|MESH:D012876 Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites. UMLS:C0037280|MESH:D012876 http://purl.obolibrary.org/obo/MONDO_0024610 skin disease, parasitic|parasitic skin disease|disease, parasitic skin|parasitic skin diseases|diseases, parasitic skin MONDO:0000661 alexithymia biolink:Disease mondo DOID:0060131 An agnosia that is a deficiency in understanding, processing, or describing emotions. DOID:0060131 http://purl.obolibrary.org/obo/MONDO_0000661 GO:2000819 regulation of nucleotide-excision repair biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of nucleotide-excision repair. http://purl.obolibrary.org/obo/GO_2000819 regulation of interstrand crosslink repair|regulation of NER|regulation of pyrimidine-dimer repair, DNA damage excision|regulation of intrastrand cross-link repair MONDO:0000660 akinetopsia biolink:Disease mondo DOID:0060130 An agnosia that is a loss of motion perception. DOID:0060130 http://purl.obolibrary.org/obo/MONDO_0000660 MONDO:0024612 manic bipolar affective disorder biolink:Disease mondo NCIT:C34805|SCTID:191618007 The manic phase of bipolar disorder. SNOMEDCT:191618007|NCIT:C34805 http://purl.obolibrary.org/obo/MONDO_0024612 manic bipolar affective disorder|manic-depressive - now manic|bipolar affective disorder, current episode manic HGNC:21237 UQCC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21237 MONDO:0000667 auditory agnosia biolink:Disease mondo DOID:0060137 An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. DOID:0060137 http://purl.obolibrary.org/obo/MONDO_0000667 MONDO:0024611 orbit neoplasm biolink:Disease mondo NCIT:C3290 A benign or malignant neoplasm that affects the orbit. NCIT:C3290 http://purl.obolibrary.org/obo/MONDO_0024611 orbit of skull neoplasm|neoplasm of orbit|orbit tumor|neoplasm of orbit of skull|orbit of skull tumor|orbital tumor|tumor of the orbit|orbital neoplasm|tumor of orbit|orbital neoplasms|tumor of orbit of skull|orbit neoplasm|neoplasm of the orbit MONDO:0000666 associative visual agnosia biolink:Disease mondo DOID:0060136 An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. DOID:0060136 http://purl.obolibrary.org/obo/MONDO_0000666 associative agnosia MONDO:0000665 apraxia biolink:Disease mondo GARD:0005838|ICD10:R48.2|DOID:0060135|MESH:D001072 Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition. MESH:D001072|DOID:0060135 http://purl.obolibrary.org/obo/MONDO_0000665 dyspraxia|Apraxias gard_rare MONDO:0024614 neurotic depression biolink:Disease mondo NCIT:C35369 A term used for any state of depression that is not psychotic. NCIT:C35369 http://purl.obolibrary.org/obo/MONDO_0024614 neurotic depression MONDO:0024613 bipolar depression biolink:Disease mondo NCIT:C34424|SCTID:191627008 The depressive stage of bipolar disorder. SNOMEDCT:191627008|NCIT:C34424 http://purl.obolibrary.org/obo/MONDO_0024613 bipolar affective disorder, current episode depression|bipolar depression|manic-depressive - now depressed MONDO:0000664 apperceptive agnosia biolink:Disease mondo DOID:0060134 An agnosia that is a loss of the ability to distinguish visual shapes. DOID:0060134 http://purl.obolibrary.org/obo/MONDO_0000664 MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 biolink:Disease mondo OMIM:611136|MESH:C567002 Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRA1 gene. MESH:C567002|http://identifiers.org/omim/611136 http://purl.obolibrary.org/obo/MONDO_0012627 epilepsy, idiopathic generalized, susceptibility to, 13; EIG13|epilepsy, childhood absence, susceptibility to, 4|epilepsy, idiopathic generalized, susceptibility to, 13|EIG13|juvenile myoclonic epilepsy caused by mutation in GABRA1|epilepsy, idiopathic generalized, susceptibility to, type 13|susceptibility to idiopathic generalized epilepsy 13|GABRA1 juvenile myoclonic epilepsy|epilepsy, juvenile myoclonic, susceptibility to, 5 predisposition GO:0099240 intrinsic component of synaptic membrane biolink:OntologyClass mondo The component of the synaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/GO_0099240 intrinsic to synaptic membrane MONDO:0012628 CHDS8 biolink:Disease mondo OMIM:611139 http://identifiers.org/omim/611139 http://purl.obolibrary.org/obo/MONDO_0012628 coronary heart disease, susceptibility to, 8|coronary heart disease, susceptibility to, 8; CHDS8|CHDS8 predisposition MONDO:0012625 retinitis pigmentosa 37 biolink:Disease mondo MESH:C567005|ICD10:H35.5|OMIM:611131|UMLS:C1970163|DOID:0110399 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene. DOID:0110399|UMLS:C1970163|MESH:C567005|http://identifiers.org/omim/611131 http://purl.obolibrary.org/obo/MONDO_0012625 RP37|retinitis pigmentosa caused by mutation in NR2E3|retinitis pigmentosa 37|NR2E3 retinitis pigmentosa|retinitis pigmentosa type 37|retinitis pigmentosa 37; RP37 MONDO:0012626 Meckel syndrome, type 4 biolink:Disease mondo ICD10:Q61.9|OMIM:611134|DOID:0070118|UMLS:C1970161 Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. DOID:0070118|UMLS:C1970161|http://identifiers.org/omim/611134 http://purl.obolibrary.org/obo/MONDO_0012626 Meckel-like Cerebrorenodigital syndrome|Meckel-Gruber syndrome, type 4|MKS4|Meckel syndrome caused by mutation in CEP290|Meckel syndrome, type 4; MKS4|Meckel syndrome, type 4|CEP290 Meckel syndrome|Meckel syndrome 4 MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 biolink:Disease mondo UMLS:C1970149|ICD10:G24.8|MESH:C567001|OMIM:611147|DOID:0090047 A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31. DOID:0090047|UMLS:C1970149|MESH:C567001|http://identifiers.org/omim/611147 http://purl.obolibrary.org/obo/MONDO_0012629 paroxysmal nonkinesigenic dyskinesia 2; PNKD2|paroxysmal nonkinesigenic dyskinesia type 2|dystonia 20|PNKD2|paroxysmal nonkinesigenic dyskinesia 2 MONDO:0012630 Alzheimer disease 13 biolink:Disease mondo MESH:C567000|DOID:0110046|OMIM:611152|ICD10:G30|UMLS:C1970147 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. UMLS:C1970147|MESH:C567000|http://identifiers.org/omim/611152|DOID:0110046 http://purl.obolibrary.org/obo/MONDO_0012630 Alzheimer's disease type 13|Alzheimer disease 13|Alzheimer disease 13; AD13|AD13|Alzheimer's disease 13 MONDO:0012631 Alzheimer disease 14 biolink:Disease mondo UMLS:C1970144|OMIM:611154|DOID:0110047|MESH:C566999|ICD10:G30 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. UMLS:C1970144|http://identifiers.org/omim/611154|DOID:0110047|MESH:C566999 http://purl.obolibrary.org/obo/MONDO_0012631 Alzheimer disease 14|AD14|Alzheimer disease 14; AD14|Alzheimer's disease 14|Alzheimer's disease type 14 MONDO:0012634 craniofacial dysplasia - osteopenia syndrome biolink:Disease mondo Orphanet:314555|MESH:C566988|UMLS:C1970027|OMIM:611174 ORPHA:314555|UMLS:C1970027|http://identifiers.org/omim/611174|MESH:C566988 http://purl.obolibrary.org/obo/MONDO_0012634 HMMS|Hamamy syndrome|HAMAMY syndrome; HMMS|hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility|HAMAMY syndrome|hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility ordo_malformation_syndrome MONDO:0012635 COG8-CDG biolink:Disease mondo SCTID:717774004|ICD10:E77.8|OMIM:611182|GARD:0012411|DOID:0070260|Orphanet:95428|MESH:C566987|UMLS:C1970021 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. ORPHA:95428|UMLS:C1970021|DOID:0070260|SNOMEDCT:717774004|http://identifiers.org/omim/611182|MESH:C566987 http://purl.obolibrary.org/obo/MONDO_0012635 congenital disorder of glycosylation type 2h|congenital disorder of glycosylation, type IIh|CDG2H|carbohydrate deficient glycoprotein syndrome type IIh|CDG-IIh|congenital disorder of glycosylation, type IIh; CDG2H|congenital disorder of glycosylation type IIh|CDG syndrome type IIh|CDG IIh|COG8-CDG (CDG-IIh) ordo_disease MONDO:0012632 Alzheimer disease 15 biolink:Disease mondo DOID:0110048|UMLS:C1970143|MESH:C566998|ICD10:G30|OMIM:611155 An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. UMLS:C1970143|http://identifiers.org/omim/611155|MESH:C566998|DOID:0110048 http://purl.obolibrary.org/obo/MONDO_0012632 AD15|Alzheimer disease 15|Alzheimer disease 15; AD15|Alzheimer's disease type 15|Alzheimer's disease 15 MONDO:0012633 obsolete malaria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012633 MONDO:0000659 delta-heavy chain disease biolink:Disease mondo SCTID:20224008|ICD9:203.80|UMLS:C0272253|DOID:0060129 A heavy chain disease that results from an overproduction of delta antibody (IgD). DOID:0060129|SNOMEDCT:20224008|UMLS:C0272253 http://purl.obolibrary.org/obo/MONDO_0000659 delta heavy chain disease|IgD heavy chain disease|delta chain disease MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability biolink:Disease mondo OMIM:617404|UMLS:C4479410|DOID:0080197|EFO:0009149 A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. http://identifiers.org/omim/617404|UMLS:C4479410|DOID:0080197 http://purl.obolibrary.org/obo/MONDO_0024607 MDCCAID|muscular dystrophy, congenital, with cataracts and intellectual disability; MDCCAID|muscular dystrophy, congenital, with cataracts and intellectual disability MONDO:0000658 obsolete mu chain disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000658 MONDO:0000657 obsolete gamma heavy chain disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000657 MONDO:0024609 vulvar squamous cell carcinoma biolink:Disease mondo UMLS:C0280856|DOID:2101|NCIT:C4052|EFO:1000624|Orphanet:494448|SCTID:254895003 An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003) ORPHA:494448|DOID:2101|UMLS:C0280856|NCIT:C4052|SNOMEDCT:254895003 http://purl.obolibrary.org/obo/MONDO_0024609 vulvar epidermoid carcinoma|epidermoid carcinoma of the vulva|epidermoid carcinoma of vulva|epidermoid cell carcinoma of the vulva|vulvar squamous cell cancer|epidermoid cell carcinoma of vulva|vulvar epidermoid cell carcinoma|mammalian vulva squamous cell carcinoma|squamous cell carcinoma of the vulva|vulva epidermoid cell carcinoma|vulvar squamous cell carcinoma|vulva epidermoid carcinoma|squamous cell carcinoma of vulva|vulva squamous cell carcinoma MONDO:0024608 dientamoebiasis biolink:Disease mondo DOID:946|MESH:D004030|SCTID:67915005 Gastrointestinal infection with organisms of the genus dientamoeba. DOID:946|SNOMEDCT:67915005|MESH:D004030 http://purl.obolibrary.org/obo/MONDO_0024608 Dientamoeba disease or disorder|Dientamoeba infectious disease|Dientamoeba caused disease or disorder|Dientamoebiases|intestinal trichomoniasis CARO:0000000 anatomical entity biolink:OntologyClass mondo http://purl.obolibrary.org/obo/CARO_0000000 CARO:0000003 connected anatomical structure biolink:OntologyClass mondo http://purl.obolibrary.org/obo/CARO_0000003 MONDO:0024685 Philadelphia-positive myelogenous leukemia biolink:Disease mondo NCIT:C3177|UMLS:C0023476 UMLS:C0023476|NCIT:C3177 http://purl.obolibrary.org/obo/MONDO_0024685 Philadelphia-positive myelogenous leukemia|Philadelphia-positive myelocytic leukemia|Ph1-positive granulocytic leukemia|Ph1-positive myelocytic leukemia|Ph1-positive myeloid leukemia|Ph1-positive myelogenous leukemia|Philadelphia-positive granulocytic leukemia|Philadelphia-positive myeloid leukemia MONDO:0022022 bowenoid papulosis biolink:Disease mondo ICD9:447.8|SCTID:402913004|GARD:0005951|NCIT:C8374|UMLS:C0334106 Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported. NCIT:C8374|SNOMEDCT:402913004|UMLS:C0334106 http://purl.obolibrary.org/obo/MONDO_0022022 Bowenoid papulosis|bowenoid papulosis|BP gard_rare HP:0011450 Unusual CNS infection biolink:PhenotypicFeature mondo MSH:D002494|UMLS:C0007684|SNOMEDCT_US:128117002 A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. http://purl.obolibrary.org/obo/HP_0011450 Central nervous system infection HP:0011452 Functional abnormality of the middle ear biolink:PhenotypicFeature mondo UMLS:C4021846 An abnormality of the function of the middle ear. http://purl.obolibrary.org/obo/HP_0011452 Functional abnormality of the middle ear CARO:0000007 immaterial anatomical entity biolink:OntologyClass mondo http://purl.obolibrary.org/obo/CARO_0000007 MONDO:0022025 boylan dew greco syndrome biolink:Disease mondo UMLS:C2931419|MESH:C537083|GARD:0000954 MESH:C537083|UMLS:C2931419 http://purl.obolibrary.org/obo/MONDO_0022025 congenital hypomyelination neuropathy with arthrogryposis multiplex congenita gard_rare MONDO:0024686 tenosynovial giant cell tumor, diffuse type biolink:Disease mondo ONCOTREE:TGCT|NCIT:C3401|ICDO:9251/0 A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion. NCIT:C3401 http://purl.obolibrary.org/obo/MONDO_0024686 diffuse giant cell neoplasm of tendon sheath|diffuse giant cell neoplasm of Tenosynovium|diffuse giant cell neoplasm of the Tenosynovium|pigmented villonodular synovitis|diffuse tenosynovial giant cell tumor|diffuse giant cell tumor of Tenosynovium|diffuse giant cell tumor of the Tenosynovium|tenosynovial giant cell tumor diffuse type|tenosynovial giant cell tumor, diffuse type|diffuse tenosynovial giant cell neoplasm|diffuse giant cell tumor of tendon sheath CARO:0000006 material anatomical entity biolink:OntologyClass mondo http://purl.obolibrary.org/obo/CARO_0000006 MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia biolink:Disease mondo GARD:0010824|Orphanet:189427|UMLS:CN200644|MESH:C565662|ICD10:E24.8|SCTID:720459002|UMLS:C2062388 ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. UMLS:C2062388|ORPHA:189427|UMLS:CN200644|MESH:C565662|SNOMEDCT:720459002 http://purl.obolibrary.org/obo/MONDO_0009049 primary bilateral macronodular adrenal hyperplasia|ACTH-independent Cushing syndrome|MMAD|AIMAH|ACTH-independent macronodular adrenocortical hyperplasia|primary macronodular adrenal hyperplasia|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|massive macronodular adrenocortical disease gard_rare|prototype_pattern|ordo_disease MONDO:0009048 curved nail of fourth toe biolink:Disease mondo OMIM:219070 http://identifiers.org/omim/219070 http://purl.obolibrary.org/obo/MONDO_0009048 curved nail of fourth toe|claw-like fingers and toes MONDO:0009047 cryptorchidism (disease) biolink:Disease mondo SCTID:204878001|NCIT:C12326|DOID:11383|ICD10:Q53.9|OMIM:219050|MESH:D003456|HP:0000028|ICD9:752.51|EFO:0004562|ICD9:752.5|COHD:437655 The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. NCIT:C12326|MESH:D003456|SNOMEDCT:204878001|DOID:11383|http://identifiers.org/omim/219050 http://purl.obolibrary.org/obo/MONDO_0009047 undescended testis|undescended testicles|cryptorchism|undescended testes|undescended testicle|cryptorchidism|cryptorchidism, unilateral or bilateral MONDO:0009046 Fraser syndrome biolink:Disease mondo GARD:0006465|OMIMPS:219000|SCTID:204102004|MESH:D058497|UMLS:C0265233|NCIT:C118436|DOID:0090001|ICD10:Q87.0|Orphanet:2052 Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. MESH:D058497|ORPHA:2052|NCIT:C118436|UMLS:C0265233|DOID:0090001|SNOMEDCT:204102004|http://identifiers.org/omim/219000 http://purl.obolibrary.org/obo/MONDO_0009046 cryptophthalmos-syndactyly syndrome|cryptophthalmos with Other malformations|cryptophthalmos syndrome|Ulrich-Feichtiger syndrome|cryptophthalmos with other malformations|cyclopism|Fraser-Francois syndrome|Meyer-Schwickerath's syndrome|Fraser syndrome gard_rare|ordo_malformation_syndrome|prototype_pattern MONDO:0022020 Boudhina Yedes Khiari syndrome biolink:Disease mondo UMLS:C2931668|GARD:0000945|MESH:C537939 Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions MESH:C537939|UMLS:C2931668 http://purl.obolibrary.org/obo/MONDO_0022020 gard_rare MONDO:0009045 cataract-nephropathy-encephalopathy syndrome biolink:Disease mondo OMIM:218900|ICD10:Q87.8|GARD:0001614|MESH:C536216|UMLS:C0795914|SCTID:722381004|Orphanet:1380 Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. http://identifiers.org/omim/218900|SNOMEDCT:722381004|ORPHA:1380|UMLS:C0795914|MESH:C536216 http://purl.obolibrary.org/obo/MONDO_0009045 crome syndrome|congenital cataracts, renal tubular necrosis and encephalopathy in two sisters ordo_malformation_syndrome MONDO:0010044 hereditary spastic paraplegia 15 biolink:Disease mondo MESH:C536642|DOID:0110768|Orphanet:100996|GARD:0009581|ICD10:G11.4|OMIM:270700|UMLS:C1849128|SCTID:709417000 Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. MESH:C536642|UMLS:C1849128|DOID:0110768|SNOMEDCT:709417000|http://identifiers.org/omim/270700|ORPHA:100996 http://purl.obolibrary.org/obo/MONDO_0010044 autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26|autosomal recessive spastic paraplegia type 15|hereditary spastic paraplegia type 15|recessive spastic paraplegia with retinal degeneration|spastic paraplegia-retinal degeneration syndrome|autosomal recessive spastic paraplegia 15|SPG15|spastic paraplegia and retinal degeneration|Kjellin syndrome|hereditary spastic paraparesis type 15|spastic paraplegia 15, autosomal recessive; SPG15|spastic paraplegia 15|spastic paraplegia and retinal Degeneration|ZFYVE26 autosomal recessive complex spastic paraplegia|spastic paraplegia 15, autosomal recessive ordo_disease MONDO:0009044 Crigler-Najjar syndrome biolink:Disease mondo NCIT:C84656|Orphanet:205|DOID:3803|MedDRA:10011386|MESH:D003414|ICD10:E80.5|SCTID:28259009|UMLS:CN119421|UMLS:C0010324 Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2. NCIT:C84656|MESH:D003414|MEDDRA:10011386|UMLS:CN119421|ORPHA:205|DOID:3803|UMLS:C0010324|SNOMEDCT:28259009 http://purl.obolibrary.org/obo/MONDO_0009044 Crigler Najjar syndrome|Crigler-Najjar syndrome|bilirubin UDP glucuronyl transferase deficiency|hereditary unconjugated hyperbilirubinemia|UGT deficiency|bilirubin uridinediphosphate glucuronosyltransferase deficiency|bilirubin-UGT deficiency|Crigler-Najjar syndrome, type I ordo_disease MONDO:0009043 generalized resistance to thyroid hormone biolink:Disease mondo ICD10:E07.8|Orphanet:3221 A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues. ORPHA:3221 http://purl.obolibrary.org/obo/MONDO_0009043 Refetoff syndrome|deafness-thyroid hormone resistance syndrome|GRTH ordo_disease MONDO:0010043 hereditary spastic paraplegia 17 biolink:Disease mondo Orphanet:100998|GARD:0004219|MESH:C536644|UMLS:CN074197|UMLS:C2931276|OMIM:270685|DOID:0110770|ICD10:G11.4 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene. MESH:C536644|DOID:0110770|UMLS:C2931276|http://identifiers.org/omim/270685|UMLS:CN074197|ORPHA:100998 http://purl.obolibrary.org/obo/MONDO_0010043 hereditary spastic paraplegia caused by mutation in BSCL2|spastic paraplegia 17, autosomal dominant|Silver spastic paraplegia syndrome|SPG17|autosomal dominant spastic paraplegia 17|dHMN5B|hereditary spastic paraplegia type 17|spastic paraplegia with amyotrophy of hands and feet|autosomal dominant spastic paraplegia type 17|distal hereditary motor neuropathy type 5B|spastic paraplegia 17|BSCL2 hereditary spastic paraplegia|Silver syndrome|spastic paraplegia-amyotrophy of hands and feet|spastic paraplegia 17, autosomal dominant; SPG17 ordo_disease MONDO:0010046 hereditary spastic paraplegia 23 biolink:Disease mondo UMLS:C0796019|SCTID:726608002|GARD:0000336|OMIM:270750|DOID:0110774|Orphanet:101003|ICD10:G11.4|MESH:C536859 Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. SNOMEDCT:726608002|MESH:C536859|DOID:0110774|ORPHA:101003|http://identifiers.org/omim/270750|UMLS:C0796019 http://purl.obolibrary.org/obo/MONDO_0010046 spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|spastic paraplegia 23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia vitiligo premature graying and characteristic facies|SPG23|spastic paraplegia with pigmentary abnormalities|DSTYK autosomal recessive complex spastic paraplegia|spastic paraplegia 23|SPG 23|spastic paraplegia 23; SPG23|spastic paraplegia and pigmentary abnormalities|autosomal recessive spastic paraplegia type 23|autosomal recessive complex spastic paraplegia caused by mutation in DSTYK|hereditary spastic paraplegia type 23|Lison syndrome ordo_disease MONDO:0009042 craniotelencephalic dysplasia biolink:Disease mondo GARD:0001605|UMLS:C1857471|ICD10:Q04.3|MESH:C535597|OMIM:218670|Orphanet:1528|SCTID:715422002 Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. http://identifiers.org/omim/218670|UMLS:C1857471|ORPHA:1528|MESH:C535597|SNOMEDCT:715422002 http://purl.obolibrary.org/obo/MONDO_0009042 Complex of anomalies involving the cranium and brain|craniotelencephalic dysplasia ordo_malformation_syndrome|gard_rare MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome biolink:Disease mondo ICD10:G82.1|UMLS:C0795942|Orphanet:2823|GARD:0002343|MESH:C537938|OMIM:270710 This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. ORPHA:2823|UMLS:C0795942|MESH:C537938|http://identifiers.org/omim/270710 http://purl.obolibrary.org/obo/MONDO_0010045 FITZSIMMONS-Guilbert syndrome|spastic paraplegia associated with brachydactyly type E|moved to 270550, 190350, and 616944|Fitzsimmons-Guilbert syndrome|Fitzsimmons syndrome MONDO:0009041 craniosynostosis-mental retardation-clefting syndrome biolink:Disease mondo MESH:C537906|UMLS:C1857472|GARD:0001599|UMLS:C2931663|MESH:C565663|GARD:0000817|OMIM:218650 A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. http://identifiers.org/omim/218650|UMLS:C1857472|MESH:C537906|MESH:C565663|UMLS:C2931663 http://purl.obolibrary.org/obo/MONDO_0009041 craniosynostosis-intellectual disability-clefting syndrome|craniosynostosis intellectual disability clefting syndrome|craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|Baraitser Rodeck garner syndrome|craniosynostosis mental retardation clefting syndrome|craniosynostosis-mental retardation-clefting syndrome gard_rare MONDO:0010048 spastic paraplegia with myoclonic epilepsy biolink:Disease mondo UMLS:C1849114|OMIM:270805|MESH:C564810 UMLS:C1849114|MESH:C564810|http://identifiers.org/omim/270805 http://purl.obolibrary.org/obo/MONDO_0010048 spastic paraplegia with myoclonic epilepsy MONDO:0009040 craniosynostosis-mental retardation syndrome of 51N and Gettig biolink:Disease mondo OMIM:218649|MESH:C565664|UMLS:C1857473|GARD:0010282 http://identifiers.org/omim/218649|UMLS:C1857473|MESH:C565664 http://purl.obolibrary.org/obo/MONDO_0009040 craniosynostosis-intellectual disability syndrome of Lin and Gettig|craniosynostosis-mental retardation syndrome of Lin and Gettig|Lin-Gettig syndrome MONDO:0010047 hereditary spastic paraplegia 5A biolink:Disease mondo UMLS:C2931357|Orphanet:100986|GARD:0004926|DOID:0110810|ICD10:G11.4|SCTID:763373005|UMLS:C1849115|OMIM:270800 Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. MESH:C536871|UMLS:C1849115|DOID:0110810|UMLS:C2931357|UMLS:C2931356|http://identifiers.org/omim/270800|SNOMEDCT:763373005|ORPHA:100986 http://purl.obolibrary.org/obo/MONDO_0010047 spastic paraplegia 5A, autosomal recessive; SPG5A|spastic paraplegia type 5B, recessive|hereditary spastic paraplegia type 5A|CYP7B1 pure or complex autosomal recessive spastic paraplegia|spastic paraplegia type 5A|spastic paraplegia 5A, autosomal recessive|autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia type 5A|pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1|spastic paraplegia 5A|autosomal recessive spastic paraplegia 5A|SPG5A ordo_disease MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome biolink:Disease mondo OMIM:270850|MESH:C564809|GARD:0004931|Orphanet:2818|UMLS:C1849113 Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. ORPHA:2818|UMLS:C1849113|MESH:C564809|http://identifiers.org/omim/270850 http://purl.obolibrary.org/obo/MONDO_0010049 spastic paresis glaucoma mental retardation|spastic paresis, glaucoma, and intellectual disability|spastic paresis, glaucoma, and mental retardation|spastic paresis glaucoma intellectual disability ordo_disease HP:0011458 Abdominal symptom biolink:PhenotypicFeature mondo UMLS:C0740651 http://purl.obolibrary.org/obo/HP_0011458 MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation biolink:Disease mondo OMIM:270500|UMLS:C3151619 UMLS:C3151619|http://identifiers.org/omim/270500 http://purl.obolibrary.org/obo/MONDO_0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability|ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation MONDO:0010042 spastic diplegia and mental retardation biolink:Disease mondo OMIM:270600|UMLS:C1849139|MESH:C537481|GARD:0004911 UMLS:C1849139|http://identifiers.org/omim/270600|MESH:C537481 http://purl.obolibrary.org/obo/MONDO_0010042 spastic diplegia and intellectual disability|spastic diplegia and mental retardation|spastic diplegia, infantile type|spastic diplegia infantile type|hereditary spastic diplegia with mental retardation|hereditary spastic diplegia with intellectual disability MONDO:0010041 Charlevoix-Saguenay spastic ataxia biolink:Disease mondo ICD10:G11.1|Orphanet:98|GARD:0004910|SCTID:702445005|DOID:0050946|OMIM:270550|MESH:C536787|UMLS:C1849140 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. DOID:0050946|MESH:C536787|UMLS:C1849140|http://identifiers.org/omim/270550|ORPHA:98|SNOMEDCT:702445005 http://purl.obolibrary.org/obo/MONDO_0010041 spastic ataxia of Charlevoix-Saguenay|SPAX6|autosomal recessive spastic ataxia type 6|ARSACS|spastic ataxia Charlevoix-Saguenay type|sacs|spastic ataxia, Charlevoix-Saguenay type|autosomal recessive spastic ataxia of Charlevoix-Saguenay|Charlevoix-Saguenay spastic ataxia|spastic ataxia 6, autosomal recessive|spastic ataxia, Charlevoix-Saguenay type; sacs ordo_disease MONDO:0024674 Pancoast syndrome biolink:Disease mondo NCIT:C55815|UMLS:C0030271|MESH:D010178|SCTID:278065000 A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent. UMLS:C0030271|MESH:D010178|SNOMEDCT:278065000|NCIT:C55815 http://purl.obolibrary.org/obo/MONDO_0024674 syndrome, Pancoast|tumor, Pancoast|syndrome, Pancoast's|Pancoast's syndrome|Pancoast tumor|Pancoasts syndrome|superior pulmonary sulcus syndrome|Pancoast syndrome MONDO:0022011 bobble-head doll syndrome biolink:Disease mondo GARD:0009731|MESH:C536241 Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain. MESH:C536241 http://purl.obolibrary.org/obo/MONDO_0022011 BHDS|bobble head doll syndrome gard_rare MONDO:0024673 skin lymphangioma biolink:Disease mondo UMLS:C1333176|NCIT:C27509 A lymphangioma arising from the skin. NCIT:C27509|UMLS:C1333176 http://purl.obolibrary.org/obo/MONDO_0024673 skin lymphangioma|cutaneous lymphangioma MONDO:0022013 Boerhaave syndrome biolink:Disease mondo GARD:0009261|SCTID:19995004|MESH:C536571|UMLS:C0238115 A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. MESH:C536571|SNOMEDCT:19995004|UMLS:C0238115 http://purl.obolibrary.org/obo/MONDO_0022013 Boerhaave syndrome|boerhaave's syndrome|spontaneous rupture of the esophagus|Boerhave syndrome|spontaneous perforation of esophagus|spontaneous esophageal perforation|Boerhaave's syndrome|spontaneous rupture of esophagus|spontaneous perforation of the esophagus gard_rare MONDO:0024676 childhood kidney Wilms tumor biolink:Disease mondo NCIT:C27730|UMLS:C1333015 A Wilms tumor of the kidney which occurs in children. NCIT:C27730|UMLS:C1333015 http://purl.obolibrary.org/obo/MONDO_0024676 childhood Wilms tumor|childhood kidney Wilms tumor|Wilms tumor|childhood renal Wilms tumor|kidney Wilms tumor|childhood renal Wilms' tumor MONDO:0024675 adult kidney Wilms tumor biolink:Disease mondo UMLS:C1332219|NCIT:C6180 Wilms tumor of the kidney which occurs in adults. UMLS:C1332219|NCIT:C6180 http://purl.obolibrary.org/obo/MONDO_0024675 adult nephroblastoma|adenosarcoma of adult kidney|adenosarcoma of the adult kidney|adult renal Wilms' tumor|kidney Wilms tumor of adults|adult renal adenosarcoma|adult kidney Wilms tumor|adult renal Wilms tumor|adult kidney adenosarcoma HP:0011442 Abnormal central motor function biolink:PhenotypicFeature mondo UMLS:C4023354 An anomaly of the control or production of movement in the central nervous system. http://purl.obolibrary.org/obo/HP_0011442 Abnormality of central motor function HP:0011443 Abnormality of coordination biolink:PhenotypicFeature mondo UMLS:C4023353 http://purl.obolibrary.org/obo/HP_0011443 Coordination issue|Abnormality of coordination MONDO:0024677 pancreatic insulinoma biolink:Disease mondo MedDRA:10022498|ICD10:E16.8|SCTID:302822000|MESH:D007340|DOID:3892|NCIT:C95598|EFO:0000549|GARD:0003010|HP:0012197 An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. SNOMEDCT:302822000|MEDDRA:10022498|MESH:D007340|DOID:3892|NCIT:C95598 http://purl.obolibrary.org/obo/MONDO_0024677 beta-cell adenoma|Insulomas|beta-cell tumors|adenoma, beta-cell|insulin-producing tumor of islet cells|insulinoma tumor suppressor GENE locus|beta cell tumor|adenomas, beta-cell|insulinoma|insuloma|beta-cell tumor|beta-cell adenomas|tumor, beta-cell|islet cell adenoma|Insulinomas|pancreatic insulinoma|tumors, beta-cell|adenoma, beta cell ordo_disease|gard_rare MONDO:0022018 Borrone di Rocco Crovato syndrome biolink:Disease mondo UMLS:C1859406|MESH:C536577|GARD:0000939 UMLS:C1859406|MESH:C536577 http://purl.obolibrary.org/obo/MONDO_0022018 Borrone dermatocardioskeletal syndrome gard_rare HP:0011446 Abnormality of higher mental function biolink:PhenotypicFeature mondo UMLS:C4023352 Cognitive, psychiatric or memory anomaly. http://purl.obolibrary.org/obo/HP_0011446 MONDO:0010029 situs inversus biolink:Disease mondo ICD9:759.3|DOID:758|ICD10:Q89.3|MESH:D012857|GARD:0004883|OMIM:270100|SCTID:24614000|ICD9:759.89|COHD:193306|HP:0001696|NCIT:C87121|Orphanet:101063 A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). SNOMEDCT:24614000|DOID:758|NCIT:C87121|MESH:D012857|http://identifiers.org/omim/270100|ORPHA:101063 http://purl.obolibrary.org/obo/MONDO_0010029 SIV|laterality sequence|situs inversus totalis (disease)|complete situs inversus|situs inversus viscerum|complete transposition|complete situs inversus viscerum|situs inversus totalis|situs ambiguus|heterotaxy, visceral, 5, autosomal; HTX5|situs inversus|complete transposition (morphologic abnormality)|heterotaxy, visceral, 5, autosomal|HTX5 ordo_morphological_anomaly MONDO:0009059 cysteine Peptiduria biolink:Disease mondo OMIM:219550|MESH:C565659|UMLS:C1857438 http://identifiers.org/omim/219550|UMLS:C1857438|MESH:C565659 http://purl.obolibrary.org/obo/MONDO_0009059 cysteine Peptiduria MONDO:0009058 cystathioninuria (disease) biolink:Disease mondo ICD10:E72.1|NCIT:C129070|HP:0003153|UMLS:C3495552|UMLS:C0220993|GARD:2428|OMIM:219500|GARD:0002428|DOID:0090142|UMLS:C0268616|SCTID:13003007|Orphanet:212 Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. http://identifiers.org/omim/219500|UMLS:C0220993|UMLS:C0268616|NCIT:C129070|UMLS:C3495552|ORPHA:212|SNOMEDCT:13003007|MESH:C535408|DOID:0090142 http://purl.obolibrary.org/obo/MONDO_0009058 cystathionase deficiency|gamma-cystathionase deficiency|Cystathione gamma-lyase deficiency syndrome|cystathioninuria|cystathione gamma-lyase deficiency syndrome mostly_harmless|ordo_disease MONDO:0009057 cyanosis and hepatic disease biolink:Disease mondo UMLS:C1857443|MESH:C565660|OMIM:219400 UMLS:C1857443|MESH:C565660|http://identifiers.org/omim/219400 http://purl.obolibrary.org/obo/MONDO_0009057 cyanosis and hepatic disease MONDO:0009056 cutis verticis gyrata and mental retardation biolink:Disease mondo UMLS:C1857444|Orphanet:1557|OMIM:219300 UMLS:C1857444|ORPHA:1557|http://identifiers.org/omim/219300 http://purl.obolibrary.org/obo/MONDO_0009056 cutis verticis gyrata-intellectual disability syndrome|CVG/MR|cutis verticis gyrata and intellectual disability|cutis verticis gyrata and mental retardation; CVG/MR|cutis verticis gyrata and mental retardation|cutis verticis gyrata and intellectual disability; CVG/MR MONDO:0009055 cutis marmorata telangiectatica congenita (disease) biolink:Disease mondo Orphanet:1556|MESH:C536226|ICD10:Q82.8|ICD9:757.8|HP:0025107|OMIM:219250|GARD:0006228|SCTID:254778000 Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin. UMLS:C0345419|ORPHA:1556|MESH:C536226|SNOMEDCT:254778000|http://identifiers.org/omim/219250 http://purl.obolibrary.org/obo/MONDO_0009055 CMTC|Van Lohuizen syndrome|cutis marmorata telangiectatica congenita|hereditary cutis marmorata telangiectatica congenita|cutis marmorata telangiectatica congenita; CMTC ordo_malformation_syndrome MONDO:0010033 generalized peeling skin syndrome biolink:Disease mondo ICD10:Q80.8|Orphanet:263543|UMLS:C4305156|SCTID:718749004|UMLS:CN202304|GARD:0012862 Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy. SNOMEDCT:718749004|ORPHA:263543|UMLS:CN202304|UMLS:C4305156 http://purl.obolibrary.org/obo/MONDO_0010033 PSS1|peeling skin syndrome 1|generalized PSS|generalized deciduous skin|peeling skin syndrome type 1 ordo_disease HGNC:11896 TNFAIP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11896 MONDO:0012696 OTSC4 biolink:Disease mondo OMIM:611571|MESH:C566914|UMLS:C1969046 http://identifiers.org/omim/611571|MESH:C566914|UMLS:C1969046 http://purl.obolibrary.org/obo/MONDO_0012696 otosclerosis 4|OTSC4|otosclerosis 4; OTSC4 MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement biolink:Disease mondo UMLS:C1849195|MESH:C536668|GARD:0004885|OMIM:270220 MESH:C536668|UMLS:C1849195|http://identifiers.org/omim/270220 http://purl.obolibrary.org/obo/MONDO_0010032 Sjogren-Larsson-like syndrome|Sjogren-Larsson-like ichthyosis without CNS or eye involvement|ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement MONDO:0009054 autosomal recessive cutis laxa type 2, classic type biolink:Disease mondo GARD:0001638|UMLS:CN204606|MESH:C562632|DOID:0070136|OMIM:219200|SCTID:73856006|ICD10:Q82.8|DOID:0070141|Orphanet:357074 ORPHA:357074|SNOMEDCT:73856006|http://identifiers.org/omim/219200|MESH:C562632|DOID:0070141|DOID:0070136|UMLS:CN204606 http://purl.obolibrary.org/obo/MONDO_0009054 ARCL2, classic type|ARCL2, Debré type|Arcl2|cutis laxa with Joint laxity and retarded development|cutis laxa, autosomal recessive, type 2A|cutis laxa, autosomal recessive, type IIA; ARCL2A|cutis laxa with congenital disorder of glycosylation|ARCL2, debre type|cutis laxa, autosomal recessive, type IIA|cutis laxa with Growth and developmental delay|cutis laxa, autosomal recessive type 2A|ARCL2, DebrC) type|autosomal recessive cutis laxa type 2, DebrC) type|autosomal recessive cutis laxa type II classic type|cutis laxa with bone dystrophy|ARCL2A|cutis laxa, debre type|autosomal recessive cutis laxa type 2, Debré type|ADCL2 ordo_clinical_subtype MONDO:0012697 OTSC7 biolink:Disease mondo UMLS:C1969044|OMIM:611572|MESH:C566913 http://identifiers.org/omim/611572|MESH:C566913|UMLS:C1969044 http://purl.obolibrary.org/obo/MONDO_0012697 OTSC7|otosclerosis 7|otosclerosis 7; OTSC7 MONDO:0012694 Joubert syndrome 7 biolink:Disease mondo UMLS:C1969053|MESH:C566916|OMIM:611560|DOID:0111002 Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. DOID:0111002|http://identifiers.org/omim/611560|MESH:C566916|UMLS:C1969053 http://purl.obolibrary.org/obo/MONDO_0012694 Joubert syndrome 7|RPGRIP1L Joubert syndrome|Joubert syndrome type 7|JBTS7|Joubert syndrome caused by mutation in RPGRIP1L|Joubert syndrome 7; JBTS7 MONDO:0010035 Smith-Lemli-Opitz syndrome biolink:Disease mondo OMIM:270400|ICD10:Q87.1|DOID:14692|SCTID:43929004|MESH:D019082|UMLS:C0175694|ICD9:759.89|GARD:0005683|NCIT:C85071|ICD10:E78.72|Orphanet:818 Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. UMLS:C2713347|UMLS:C0175694|MESH:D019082|DOID:14692|ORPHA:818|NCIT:C85071|SNOMEDCT:43929004|http://identifiers.org/omim/270400 http://purl.obolibrary.org/obo/MONDO_0010035 polydactyly, sex reversal, renal hypoplasia, and unilobular lung|Smith Lemli Opitz syndrome|lethal acrodysgenital syndrome|Smith-Lemli-Opitz syndrome; SLOS|7-dehydrocholesterol reductase deficiency|Rutledge lethal multiple congenital anomaly syndrome|SLO syndrome|RSH syndrome|Smith-Opitz-inborn syndrome|SLOS|polydactyly, sex reversal, renal hypoplasia, and unilobar lung|Smith-Lemli-Opitz syndrome ordo_malformation_syndrome|gard_rare MONDO:0009053 ALDH18A1-related de Barsy syndrome biolink:Disease mondo SCTID:59252009|ICD10:Q87.8|Orphanet:35664|ICD10:Q82.8|DOID:0070132|ICD9:371.89|OMIM:219150 ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. SNOMEDCT:59252009|http://identifiers.org/omim/219150|ORPHA:35664|DOID:0070132 http://purl.obolibrary.org/obo/MONDO_0009053 progeroid syndrome of De Barsy|ARCL3A|cutis laxa, autosomal recessive, type IIIA; ARCL3A|neurocutaneous syndrome, Bicknell type|cutis laxa, autosomal recessive, type IIIA|Delta-1-pyrroline 5-carboxylate synthetase deficiency|P5CS deficiency|De Barsy syndrome a|autosomal recessive cutis laxa type IIIA|cutis laxa, autosomal recessive, type 3A|cutis laxa, corneal clouding, and mental retardation|cutis laxa, corneal clouding, and intellectual disability|De Barsy syndrome A ordo_etiological_subtype MONDO:0009052 cutis laxa, autosomal recessive, type 1A biolink:Disease mondo DOID:0070135|ICD10:Q82.8|OMIM:219100|UMLS:CN033664|MESH:C562628|SCTID:59451000 An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. UMLS:CN033664|SNOMEDCT:59451000|http://identifiers.org/omim/219100|MESH:C562628|DOID:0070135 http://purl.obolibrary.org/obo/MONDO_0009052 ARCL1|cutis laxa, autosomal recessive, type IA; ARCL1A|ARCL1A|cutis laxa, autosomal recessive|cutis laxa, autosomal recessive, type IA|autosomal recessive cutis laxa type IA MONDO:0012695 Meckel syndrome, type 5 biolink:Disease mondo UMLS:C1969052|ICD10:Q61.9|MESH:C566915|OMIM:611561|DOID:0070119 Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. http://identifiers.org/omim/611561|MESH:C566915|UMLS:C1969052|DOID:0070119 http://purl.obolibrary.org/obo/MONDO_0012695 RPGRIP1L Meckel syndrome|Meckel syndrome 5|Meckel-Gruber syndrome, type 5|Meckel syndrome, type 5; MKS5|MKS5|Meckel syndrome caused by mutation in RPGRIP1L|Meckel syndrome, type 5 MONDO:0010034 anosmia for butyl mercaptan biolink:Disease mondo OMIM:270350 http://identifiers.org/omim/270350 http://purl.obolibrary.org/obo/MONDO_0010034 skunk N-BUTYLMERCAPTAN, inability to smell|skunk N-butyl mercaptan, inability to smell MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome biolink:Disease mondo UMLS:C1857449|ICD10:L57.8|MESH:C536224|Orphanet:2881|GARD:0001633|OMIM:219095 Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991. UMLS:C1857449|ORPHA:2881|MESH:C536224|http://identifiers.org/omim/219095 http://purl.obolibrary.org/obo/MONDO_0009051 early cutaneous photosensitivity and severe colitis|cutaneous photosensitivity and colitis, lethal ordo_disease MONDO:0010037 sodium-potassium-ATPase activity of red cell biolink:Disease mondo OMIM:270425 http://identifiers.org/omim/270425 http://purl.obolibrary.org/obo/MONDO_0010037 sodium pump sites, number of|sodium-potassium-ATPase activity of red cell MONDO:0010036 congenital secretory sodium diarrhea 3 biolink:Disease mondo DOID:0060781|OMIM:270420|ICD10:P78.3 Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene. http://identifiers.org/omim/270420|DOID:0060781 http://purl.obolibrary.org/obo/MONDO_0010036 congenital secretory sodium diarrhea 3 with or without other congenital anomalies|SPINT2 secretory diarrhea|diarrhea 3, secretory sodium, congenital, syndromic|DIAR3|congenital secretory sodium diarrhea 3 syndromic|diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies; DIAR3|congenital secretory sodium diarrhea type 3|secretory diarrhea caused by mutation in SPINT2|diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies|sodium diarrhea, congenital MONDO:0009050 Cushing disease due to pituitary adenoma biolink:Disease mondo Orphanet:96253|GARD:0012867|UMLS:C0221406|NCIT:C113210|OMIM:219090|UMLS:C1306214|ICD10:D35.2|DOID:7004|ICD10:E24.0|SCTID:254958004|MedDRA:10035109|MESH:D049913 Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland. MEDDRA:10035109|ORPHA:96253|MESH:D049913|UMLS:C0221406|NCIT:C113210|http://identifiers.org/omim/219090|MESH:D047748|UMLS:C1306214|SNOMEDCT:254958004|DOID:7004 http://purl.obolibrary.org/obo/MONDO_0009050 pituitary adenoma 4, ACTH-secreting; PITA4|pituitary-dependent Cushing syndrome|Corticotropinoma|ACTH-secreting pituitary adenoma|pituitary adenoma, ACTH-secreting|ACTH-producing pituitary adenoma|Cushing disease, pituitary|pituitary corticotroph micro-adenoma|corticotroph pituitary adenoma|Cushing disease|ACTH producing pituitary adenoma|PITA4|corticotroph adenoma|pituitary dependent Cushing syndrome|Cushing's disease|pituitary adenoma 4, ACTH-secreting gard_rare|ordo_disease MONDO:0012698 Waardenburg syndrome type 2E biolink:Disease mondo OMIM:611584|DOID:0110956|UMLS:C2700405 Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene. UMLS:C2700405|http://identifiers.org/omim/611584|DOID:0110956 http://purl.obolibrary.org/obo/MONDO_0012698 Waardenburg syndrome, type 2E|WS2E with or without neurological involvement|SOX10 Waardenburg syndrome type 2|Waardenburg syndrome, type 2E; WS2E|hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation|Waardenburg syndrome type 2 caused by mutation in SOX10|Ws2E, with or without neurologic involvement|WS2E|Waardenburg syndrome type 2E with or without neurologic involvement|Waardenburg syndrome, type 2E, with or without neurologic involvement|Waardenburg syndrome type IIE MONDO:0010039 congenital heart defect-round face-developmental delay syndrome biolink:Disease mondo Orphanet:1355|SCTID:715987000|GARD:0004905|UMLS:C0796162|ICD10:Q87.8|OMIM:270460|MESH:C536680 Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. ORPHA:1355|MESH:C536680|http://identifiers.org/omim/270460|SNOMEDCT:715987000|UMLS:C0796162 http://purl.obolibrary.org/obo/MONDO_0010039 round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development|Sonoda syndrome ordo_malformation_syndrome MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M biolink:Disease mondo OMIM:611588|Orphanet:206554|UMLS:C1969040|GARD:0012538|MESH:C566912|DOID:0110296|ICD10:G71.0 Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. http://identifiers.org/omim/611588|MESH:C566912|UMLS:C1969040|DOID:0110296|ORPHA:206554 http://purl.obolibrary.org/obo/MONDO_0012699 FKTN autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN|muscular dystrophy, limb-girdle, type 2M|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4; MDDGC4|limb-girdle muscular dystrophy type 2M|MDDGC4|LGMD2M ordo_disease MONDO:0010038 growth delay due to insulin-like growth factor I resistance biolink:Disease mondo ICD10:E34.3|Orphanet:73273|GARD:0010609|OMIM:270450|SCTID:715625007|UMLS:C1849157 Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). ORPHA:73273|UMLS:C1849157|http://identifiers.org/omim/270450|SNOMEDCT:715625007 http://purl.obolibrary.org/obo/MONDO_0010038 insulin-like growth factor I, resistance to|Somatomedin-C, resistance to|resistance to IGF-1|insulin-like growth factor I, resistance to; IGF1RES|insulin-like growth factor 1 resistance to|Somatomedin, end-organ insensitivity to|Somatomedin-c resistance to|insulin-like Growth Factor I, resistance to, due to increased binding Protein|IGF1RES|IGF-1 resistance|Somatomedin end-organ insensitivity to|IGF-I resistance gard_rare|ordo_disease MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies biolink:Disease mondo MESH:C566918|UMLS:C1969055|OMIM:611555 http://identifiers.org/omim/611555|MESH:C566918|UMLS:C1969055 http://purl.obolibrary.org/obo/MONDO_0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies|renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies HGNC:11892 TNF biolink:OntologyClass mondo http://identifiers.org/hgnc/11892 MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency biolink:Disease mondo GARD:0010760|UMLS:C1969054|MESH:C566917|Orphanet:137625|OMIM:611556|SCTID:725027004|ICD10:E74.0 Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. http://identifiers.org/omim/611556|MESH:C566917|UMLS:C1969054|SNOMEDCT:725027004|ORPHA:137625 http://purl.obolibrary.org/obo/MONDO_0012693 glycogen storage disease type 0, muscle|glycogenosis type 0b|GSD 0B|GSD due to muscle and heart glycogen synthase deficiency|glycogen storage disease 0, muscle; GSD0B|glycogen storage disease 0, muscle|heart glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of heart|muscle glycogen storage disease 0|GSD type 0b|glycogen storage disease type 0b|glycogenosis due to muscle and heart glycogen synthase deficiency|muscle glycogen synthase deficiency|GSD0B ordo_disease MONDO:0012690 Noonan syndrome 5 biolink:Disease mondo UMLS:C1969057|DOID:0060583|GARD:0010700|MESH:C548083|OMIM:611553 Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. http://identifiers.org/omim/611553|UMLS:C1969057|DOID:0060583|MESH:C548083 http://purl.obolibrary.org/obo/MONDO_0012690 Noonan syndrome caused by mutation in RAF1|RAF1 gene related Noonan syndrome|Noonan syndrome 5; NS5|RAF1 Noonan syndrome|Noonan syndrome type 5|NS5|Noonan syndrome 5 gard_rare MONDO:0010031 Sjogren-Larsson syndrome biolink:Disease mondo SCTID:111303009|MedDRA:10048676|UMLS:C0037231|ICD10:Q87.1|MESH:D016111|NCIT:C85070|GARD:0007654|DOID:14501|OMIM:270200|EFO:0007031|Orphanet:816 SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. MEDDRA:10048676|UMLS:C0037231|ORPHA:816|DOID:14501|SNOMEDCT:111303009|NCIT:C85070|http://identifiers.org/omim/270200|MESH:D016111 http://purl.obolibrary.org/obo/MONDO_0010031 FAO deficiency|FALDH deficiency|Sjogren-Larsson syndrome; SLS|Sjogren-Larsson's syndrome|fatty alcohol:NAD+ oxidoreductase deficiency|Sjögren-Larsson syndrome|fatty acid alcohol oxidoreductase deficiency|SLS|Sjogren Larsson syndrome|FADH deficiency|fatty aldehyde dehydrogenase deficiency|ichthyosis, spastic neurologic disorder, and oligophrenia|Sjogren-Larsson syndrome ordo_disease|gard_rare MONDO:0012691 LEOPARD syndrome 2 biolink:Disease mondo OMIM:611554|UMLS:C1969056|MESH:C537117 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene. http://identifiers.org/omim/611554|UMLS:C1969056|MESH:C537117 http://purl.obolibrary.org/obo/MONDO_0012691 leopard syndrome 2|LEOPARD syndrome 2; LPRD2|LPRD2|Leopard syndrome type 2 MONDO:0010030 Sjogren syndrome biolink:Disease mondo MESH:D012859|GARD:0010252|SCTID:83901003|ICD9:710.2|OMIM:270150|ICD10:M35.00|ICD10:M35.0|EFO:0000699|Orphanet:289390|NCIT:C26883|DOID:12894 An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain MESH:D012859|http://identifiers.org/omim/270150|ORPHA:289390|DOID:12894|NCIT:C26883|SNOMEDCT:83901003 http://purl.obolibrary.org/obo/MONDO_0010030 xerodermosteosis|primary Sjögren syndrome|syndrome, Sjogren's|primary Sjogren-Gougerot syndrome|Sjögren syndrome|Sjogren's syndrome|Sjogren syndrome|primary Sjögren-Gougerot syndrome|sicca syndrome ordo_disease MONDO:0024663 primary skin meningioma biolink:Disease mondo NCIT:C5277 NCIT:C5277 http://purl.obolibrary.org/obo/MONDO_0024663 primary cutaneous meningioma|primary skin meningioma|primary meningioma of skin|primary meningioma of the skin MONDO:0000696 obsolete juvenile absence epilepsy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000696 MONDO:0024662 colorectal tubulovillous adenoma biolink:Disease mondo NCIT:C5675|UMLS:C1333118 A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. NCIT:C5675|UMLS:C1333118 http://purl.obolibrary.org/obo/MONDO_0024662 tubulovillous adenoma of the large bowel|tubulovillous adenoma of large bowel|colorectal tubulovillous adenoma|large bowel tubulovillous adenoma MONDO:0000695 obsolete histidinemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000695 MONDO:0024665 indeterminate sex and/or pseudohermaphroditism biolink:Disease mondo ICD9:752.7|SCTID:268229003|ICD10:Q56 SNOMEDCT:268229003 http://purl.obolibrary.org/obo/MONDO_0024665 gynandrism MONDO:0000694 seasonal affective disorder biolink:Disease mondo MESH:D016574|DOID:0060167|SCTID:247803002|ICD9:296.99 A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence. SNOMEDCT:247803002|DOID:0060167|MESH:D016574 http://purl.obolibrary.org/obo/MONDO_0000694 winter depression|seasonal affective disorder|sad|SADS MONDO:0024664 hypertension, pregnancy-induced biolink:Disease mondo MESH:D046110|SCTID:48194001|NCIT:C9243 A hypertensive disorder that develops during pregnancy. NCIT:C9243|SNOMEDCT:48194001|MESH:D046110 http://purl.obolibrary.org/obo/MONDO_0024664 hypertension associated disorders of pregnancy|hypertensions, pregnancy induced|hypertension, gestational|gestational hypertension|hypertension induced by pregnancy|hypertension complicating pregnancy|induced Hypertensions, pregnancy|hypertension-associated pregnancy disorder|pregnancy-induced hypertension|pregnancy transient hypertension|induced hypertension, pregnancy|hypertension, pregnancy induced|pregnancy induced hypertension|hypertension, pregnancy transient|transient hypertension, pregnancy MONDO:0000693 bipolar II disorder biolink:Disease mondo SCTID:83225003|DOID:0060166|ICD9:296.89 A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. SNOMEDCT:83225003|DOID:0060166 http://purl.obolibrary.org/obo/MONDO_0000693 bipolar 2 disorder|bipolar ll disorder|bipolar II disorder HGNC:23845 SLX4 biolink:OntologyClass mondo http://identifiers.org/hgnc/23845 MONDO:0024666 benign epithelial skin neoplasm biolink:Disease mondo UMLS:C0345981|NCIT:C7341 A form of epithelial skin neoplasm without malignant characteristics. UMLS:C0345981|NCIT:C7341 http://purl.obolibrary.org/obo/MONDO_0024666 epithelial skin neoplasm, benign|benign epithelial skin neoplasm|benign skin epithelium tumor|benign skin epithelium neoplasm|benign epithelial skin tumor MONDO:0000699 obsolete homocarnosinosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000699 MONDO:0000698 gamma-amino butyric acid metabolism disorder biolink:Disease mondo DOID:0060176 An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. DOID:0060176 http://purl.obolibrary.org/obo/MONDO_0000698 MONDO:0022007 water intoxication biolink:Disease mondo UMLS:C0043049|SCTID:71785001|MESH:D014869 A condition resulting from the excessive retention of water with sodium depletion. SNOMEDCT:71785001|UMLS:C0043049|MESH:D014869 http://purl.obolibrary.org/obo/MONDO_0022007 WATER INTOX|water intoxication syndrome|Water Intoxication|Water intoxication syndrome|Water intoxication MONDO:0000697 obsolete succinic semialdehyde dehydrogenase deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000697 MONDO:0010019 secretory component deficiency biolink:Disease mondo UMLS:C0398709|ICD9:279.03|SCTID:234554004|OMIM:269650|MESH:C562869 MESH:C562869|SNOMEDCT:234554004|UMLS:C0398709|http://identifiers.org/omim/269650 http://purl.obolibrary.org/obo/MONDO_0010019 IgA deficiency, secretory|secretory component deficiency MONDO:0009029 cranial nerves, congenital paresis of biolink:Disease mondo MESH:C565673|OMIM:218100|UMLS:C1857531 MESH:C565673|http://identifiers.org/omim/218100|UMLS:C1857531 http://purl.obolibrary.org/obo/MONDO_0009029 cranial nerves, congenital paresis of MONDO:0010018 second metatarsal-metacarpal syndrome biolink:Disease mondo MESH:C564824|UMLS:C1849259|OMIM:269630 http://identifiers.org/omim/269630|MESH:C564824|UMLS:C1849259 http://purl.obolibrary.org/obo/MONDO_0010018 second metatarsal-metacarpal syndrome MONDO:0009028 Crane-Heise syndrome biolink:Disease mondo GARD:0008428|SCTID:715991005|Orphanet:1512|ICD10:Q87.5|OMIM:218090|UMLS:C1857532|MESH:C536452 Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. SNOMEDCT:715991005|http://identifiers.org/omim/218090|UMLS:C1857532|ORPHA:1512|MESH:C536452 http://purl.obolibrary.org/obo/MONDO_0009028 cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus|Crane-Heise syndrome ordo_malformation_syndrome|gard_rare MONDO:0009027 cramps, familial adolescent biolink:Disease mondo OMIM:218050 http://identifiers.org/omim/218050 http://purl.obolibrary.org/obo/MONDO_0009027 cramps, familial adolescent MONDO:0009026 Costello syndrome biolink:Disease mondo MedDRA:10067380|UMLS:C0587248|GARD:0001550|Orphanet:3071|NCIT:C84652|ICD10:Q87.8|SCTID:309776008|DOID:0050469|OMIM:218040|ICD9:799.89|MESH:D056685 Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. http://identifiers.org/omim/218040|UMLS:C0587248|NCIT:C84652|MEDDRA:10067380|ORPHA:3071|MESH:D056685|DOID:0050469|SNOMEDCT:309776008 http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome|Costello syndrome; CSTLO|FCS syndrome|CSTLO|faciocutaneoskeletal syndrome|myopathy, congenital, with excess of muscle spindles ordo_malformation_syndrome|gard_rare|clingen MONDO:0000692 obsolete Kleine-Levin syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000692 MONDO:0009025 apparent mineralocorticoid excess biolink:Disease mondo OMIM:218030|SCTID:703256004|ICD10:E26.1|UMLS:C2936861|MESH:C537422|GARD:0000433|NCIT:C131083|DOID:0090121|Orphanet:320|UMLS:CN203981|UMLS:C3887949 Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. http://identifiers.org/omim/218030|SNOMEDCT:703256004|UMLS:CN203981|MESH:D043204|MESH:C537422|UMLS:C2936861|ORPHA:320|NCIT:C131083|UMLS:C3887949|UMLS:C0342488|DOID:0090121 http://purl.obolibrary.org/obo/MONDO_0009025 cortisol 11-Beta-ketoreductase deficiency|Ulick syndrome|Ame1|cortisol 11-beta-ketoreductase deficiency|AME|apparent mineralocorticoid EXCESS; AME|11 Beta-hydroxysteroid dehydrogenase type 2 deficiency|ape|11-beta-hydroxysteroid dehydrogenase deficiency type 2|AME 1|apparent mineralocorticoid excess ordo_disease|gard_rare MONDO:0000691 obsolete pain disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000691 MONDO:0000690 body dysmorphic disorder biolink:Disease mondo ICD10:F45.22|SCTID:83482000|DOID:0060163|MESH:D057215 Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning. SNOMEDCT:83482000|DOID:0060163|MESH:D057215 http://purl.obolibrary.org/obo/MONDO_0000690 body dysmorphia|dysmorphic syndrome|dysmorphophobia MONDO:0024661 tubulovillous adenoma biolink:Disease mondo UMLS:C0334307|NCIT:C4143|ICDO:8263/0 An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. NCIT:C4143|UMLS:C0334307 http://purl.obolibrary.org/obo/MONDO_0024661 tubulovillous adenoma MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome biolink:Disease mondo UMLS:C1857568|GARD:0001548|Orphanet:1389|MESH:C565674|OMIM:218010 This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly. http://identifiers.org/omim/218010|ORPHA:1389|UMLS:C1857568|MESH:C565674 http://purl.obolibrary.org/obo/MONDO_0009024 cortical blindness, retardation, and postaxial polydactyly gard_rare|ordo_malformation_syndrome MONDO:0024660 tubular adenoma biolink:Disease mondo UMLS:C0334292|NCIT:C4133|SCTID:444408007|ICDO:8211/0 A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum. SNOMEDCT:444408007|NCIT:C4133|UMLS:C0334292 http://purl.obolibrary.org/obo/MONDO_0024660 tubular adenoma|adenoma, tubular cell, benign MONDO:0009023 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009023 MONDO:0012685 major affective disorder 5 biolink:Disease mondo OMIM:611535|MESH:C567074 http://identifiers.org/omim/611535|MESH:C567074 http://purl.obolibrary.org/obo/MONDO_0012685 MAFD5|major affective disorder 5|bipolar affective disorder|MAJOR affective disorder 5; MAFD5 MONDO:0009022 corpus callosum, agenesis of biolink:Disease mondo OMIM:217990|SCTID:5102002|MESH:D061085|GARD:0001535|NCIT:C98905 A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. NCIT:C98905|SNOMEDCT:5102002|MESH:D061085|http://identifiers.org/omim/217990 http://purl.obolibrary.org/obo/MONDO_0009022 agenesis of the corpus callosum|ACC|isolated corpus callosum agenesis|corpus callosum agenesis|agenesis of corpus callosum|corpus callosum, agenesis of MONDO:0010022 senile plaque formation biolink:Disease mondo OMIM:269800 http://identifiers.org/omim/269800 http://purl.obolibrary.org/obo/MONDO_0010022 senile plaque formation MONDO:0012686 major affective disorder 6 biolink:Disease mondo OMIM:611536|MESH:C567075 http://identifiers.org/omim/611536|MESH:C567075 http://purl.obolibrary.org/obo/MONDO_0012686 MAFD6|major affective disorder 6|bipolar affective disorder|MAJOR affective disorder 6; MAFD6 MONDO:0009021 Toriello-Carey syndrome biolink:Disease mondo ICD10:Q87.8|SCTID:722477003|MESH:C563127|UMLS:C0796184|Orphanet:3338|OMIM:217980|GARD:0005225 Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. ORPHA:3338|UMLS:C0796184|http://identifiers.org/omim/217980|SNOMEDCT:722477003|MESH:C563127 http://purl.obolibrary.org/obo/MONDO_0009021 corpus callosum agenesis facial anomalies Robin sequence|corpus callosum agenesis-blepharophimosis-Robin sequence syndrome|corpus callosum, agenesis of, with facial anomalies and ROBIN sequence|agenesis of corpus callosum with facial anomalies and Robin sequence|Toriello-Carey syndrome ordo_malformation_syndrome|gard_rare MONDO:0010021 seizures, benign familial neonatal, autosomal recessive biolink:Disease mondo OMIM:269720|GARD:0001519|MESH:C564823|UMLS:C1849250 http://identifiers.org/omim/269720|MESH:C564823|UMLS:C1849250 http://purl.obolibrary.org/obo/MONDO_0010021 convulsions, benign familial neonatal, autosomal recessive|convulsions benign familial neonatal dominant form|seizures, benign familial neonatal, autosomal recessive|Bfns, autosomal recessive|autosomal dominant form of benign neonatal seizures|epilepsy, benign familial neonatal, autosomal recessive MONDO:0010024 Beemer-Langer syndrome biolink:Disease mondo ICD10:Q77.2|ICD9:756.9|OMIM:269860|UMLS:C0432198|MESH:C537599|DOID:9249|Orphanet:93268|GARD:0004832|SCTID:254052001 Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. SNOMEDCT:254052001|MESH:C537599|http://identifiers.org/omim/269860|UMLS:C0432198|DOID:9249|ORPHA:93268 http://purl.obolibrary.org/obo/MONDO_0010024 short rib-polydactyly syndrome Beemer type|short rib-polydactyly syndrome, type 4|short rib polydactyly syndrome Beemer-Langer type|SRPS type 4|short-rib thoracic dysplasia 12; SRTD12|short rib-polydactyly syndrome, Beemer-Langer type|Srps 4|short rib-polydactyly syndrome type 4|Beemer-Langer syndrome|short rib syndrome, Beemer type|type IV short rib polydactyly syndrome|SRTD12|short-rib thoracic dysplasia 12|Beemer Langer syndrome|short rib-polydactyly syndrome type IV ordo_malformation_syndrome MONDO:0009020 macular corneal dystrophy biolink:Disease mondo OMIM:217800|MedDRA:10025406|GARD:0006953|NCIT:C34793|ICD10:H18.5|UMLS:C0024439|SCTID:60258001|ICD10:H18.55|DOID:2565|ICD9:371.55|Orphanet:98969 Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment. MEDDRA:10025406|http://identifiers.org/omim/217800|SNOMEDCT:60258001|ORPHA:98969|NCIT:C34793|UMLS:C0024439|DOID:2565 http://purl.obolibrary.org/obo/MONDO_0009020 macular dystrophy, corneal, 1|Groenouw type II corneal dystrophy|macular corneal dystrophy type 1|MCD|Fehr corneal dystrophy|macular dystrophy, corneal type 1|Mcdc1, formerly|Groenouw type 2 corneal dystrophy|MCD|corneal dystrophy, macular type|macular corneal dystrophy, type 2|macular corneal dystrophy, type 1|Mcdc1|macular dystrophy, corneal; MCD|macular dystrophy, corneal|corneal dystrophy Groenouw type II ordo_disease MONDO:0012683 pontocerebellar hypoplasia type 6 biolink:Disease mondo UMLS:C1969084|DOID:0060275|MESH:C548074|OMIM:611523|SCTID:718606005|Orphanet:166073|GARD:0010710|ICD10:Q04.3 Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis. MESH:C548074|http://identifiers.org/omim/611523|SNOMEDCT:718606005|UMLS:C1969084|DOID:0060275|ORPHA:166073 http://purl.obolibrary.org/obo/MONDO_0012683 pontocerebellar hypoplasia, type 6; PCH6|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects|RARS2 non-syndromic pontocerebellar hypoplasia|encephalopathy fatal infantile with mitochondrial respiratory chain defects|fatal infantile encephalopathy with mitochondrial respiratory chain defects|non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2|pontocerebellar hypoplasia, type 6|PCH6 ordo_malformation_syndrome|gard_rare|clingen MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency biolink:Disease mondo OMIM:269840|GARD:0000387|SCTID:716378008|MESH:C536722|Orphanet:911|ICD10:D81.8 Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. SNOMEDCT:716378008|MESH:C536722|http://identifiers.org/omim/269840|ORPHA:911 http://purl.obolibrary.org/obo/MONDO_0010023 immunodeficiency 48|selective T-cell defect|selective T-cell defect; STCD|IMD48|severe combined immunodeficiency due to ZAP70 deficiency|zeta-associated-protein 70 deficiency|STCD|immunodeficiency 48; IMD48|ZAP-70 deficiency ordo_disease MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 biolink:Disease mondo DOID:0110083|OMIM:611528|UMLS:C1969081|ICD10:I42.8|MESH:C566925 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene. http://identifiers.org/omim/611528|DOID:0110083|MESH:C566925|UMLS:C1969081 http://purl.obolibrary.org/obo/MONDO_0012684 arrhythmogenic right ventricular dysplasia, familial, 12|ARVD12|ARVC12|arrhythmogenic right ventricular dysplasia type 12|arrhythmogenic right ventricular dysplasia, familial, 12; ARVD12|JUP familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular cardiomyopathy 12|familial arrhythmogenic right ventricular dysplasia 12|arrhythmogenic right ventricular dysplasia, familial, type 12|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP MONDO:0012689 premature ovarian failure 5 biolink:Disease mondo OMIM:611548|MESH:C566921|UMLS:C1969060 Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene. http://identifiers.org/omim/611548|MESH:C566921|UMLS:C1969060 http://purl.obolibrary.org/obo/MONDO_0012689 NOBOX primary ovarian failure|premature ovarian failure 5; Pof5|primary ovarian failure caused by mutation in NOBOX|Pof5|premature ovarian failure 5|premature ovarian failure type 5 MONDO:0010026 SHORT syndrome biolink:Disease mondo Orphanet:3163|MESH:C537327|UMLS:C0878684|OMIM:269880|ICD10:Q87.1|GARD:0007633 SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease. MESH:C537327|http://identifiers.org/omim/269880|UMLS:C0878684|ORPHA:3163 http://purl.obolibrary.org/obo/MONDO_0010026 Rieger anomaly-partial lipodystrophy syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay|lipodystrophy, partial, with Rieger anomaly and short stature|short syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay|Aarskog-Ose-Pande syndrome|lipodystrophy-Rieger anomaly-diabetes syndrome|partial lipodystrophy with Rieger anomaly and short stature ordo_malformation_syndrome MONDO:0010025 short stature-obesity syndrome biolink:Disease mondo MESH:C564821|UMLS:C1849235|OMIM:269870 http://identifiers.org/omim/269870|UMLS:C1849235|MESH:C564821 http://purl.obolibrary.org/obo/MONDO_0010025 short stature-obesity syndrome; SSOS|SSOS|short stature-obesity syndrome MONDO:0010028 sialuria biolink:Disease mondo ICD10:E77.8|DOID:3659|OMIM:269921|Orphanet:3166|MedDRA:10067529|SCTID:238051008|GARD:0004865|ICD9:796.4 Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. ORPHA:3166|MEDDRA:10067529|MESH:C537332|http://identifiers.org/omim/269921|DOID:3659|UMLS:C2931471|SNOMEDCT:238051008 http://purl.obolibrary.org/obo/MONDO_0010028 sialuria|sialuria, French type ordo_disease MONDO:0012687 familial cavitary optic disc anomaly biolink:Disease mondo Orphanet:464760|UMLS:C1969063|MESH:C566924|OMIM:611543 http://identifiers.org/omim/611543|MESH:C566924|UMLS:C1969063|ORPHA:464760 http://purl.obolibrary.org/obo/MONDO_0012687 CODA|familial CODA|cavitary optic DISC anomalies; CODA|cavitary optic DISC anomalies ordo_morphological_anomaly MONDO:0010027 free sialic acid storage disease, infantile form biolink:Disease mondo MedDRA:10067532|GARD:0000175|Orphanet:309324|ICD10:E77.8|SCTID:34566007|OMIM:269920 MEDDRA:10067532|SNOMEDCT:34566007|http://identifiers.org/omim/269920|UMLS:C1963905|ORPHA:309324 http://purl.obolibrary.org/obo/MONDO_0010027 infantile free sialic acid storage disease|N-acetylneuraminic acid storage disease|infantile sialic acid storage disorder|infantile sialic acid storage disease|Nana storage disease|sialuria, infantile form|ISSD|infantile sialic acid storage disease; ISSD gard_rare|ordo_clinical_subtype MONDO:0012688 cataract 17 multiple types biolink:Disease mondo MESH:C566923|DOID:0110270|ICD10:Q12.0|OMIM:611544|UMLS:C1969062 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene. http://identifiers.org/omim/611544|MESH:C566923|DOID:0110270|UMLS:C1969062 http://purl.obolibrary.org/obo/MONDO_0012688 autosomal recessive congenital nuclear cataract 3|CTRCT17|cataract 17, multiple types; CTRCT17|cataract, congenital nuclear, autosomal recessive 3|early-onset non-syndromic cataract caused by mutation in CRYBB1|CRYBB1 early-onset non-syndromic cataract|cataract 17, multiple types|CATCN3|cataract 17, multiple types, with or without microcornea MONDO:0024659 colorectal Kaposi sarcoma biolink:Disease mondo NCIT:C96510|UMLS:C3272833 A Kaposi sarcoma that arises from the colon or rectum. NCIT:C96510|UMLS:C3272833 http://purl.obolibrary.org/obo/MONDO_0024659 large intestinal Kaposi sarcoma|colorectal Kaposi sarcoma|large intestine Kaposi's sarcoma (disease)|Kaposi's sarcoma (disease) of large intestine HP:0410280 Pediatric onset biolink:PhenotypicFeature mondo Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/HP_0410280 Paediatric onset|Onset before adulthood MONDO:0012681 FEB7 biolink:Disease mondo MESH:C566929|UMLS:C1969087|OMIM:611515 http://identifiers.org/omim/611515|MESH:C566929|UMLS:C1969087 http://purl.obolibrary.org/obo/MONDO_0012681 febrile seizures, familial, 7|febrile seizures, familial, 7; FEB7|febrile convulsions, familial, 7|FEB7 MONDO:0012682 susceptibility to infection due to TYK2 deficiency biolink:Disease mondo UMLS:C1969086|Orphanet:331226|MESH:C566928|OMIM:611521|ICD10:D82.4 Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency in which the cause of the disease is a mutation in the TYK2 gene. http://identifiers.org/omim/611521|MESH:C566928|ORPHA:331226|UMLS:C1969086 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency type 35|immunodeficiency 35|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2|hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive|TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|tyrosine kinase 2 deficiency|IMD35|HIES with atypical Mycobacteriosis, autosomal recessive|immunodeficiency 35; IMD35|TYK2 deficiency|autosomal recessive hyper-IgE syndrome due to TYK2 deficiency predisposition|ordo_disease MONDO:0010020 congenital generalized lipodystrophy type 2 biolink:Disease mondo OMIM:269700|GARD:0010212|ICD10:E88.1|DOID:0111136 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene. DOID:0111136|http://identifiers.org/omim/269700 http://purl.obolibrary.org/obo/MONDO_0010020 congenital generalized lipodystrophy (disease) caused by mutation in BSCL2|Berardinelli-Seip congenital lipodystrophy type 2|lipoatrophic diabetes, congenital|Berardinelli-Seip congenital lipodystrophy, type 2|lipodystrophy, congenital generalized, type 2|CGL2|lipodystrophy, total, and acromegaloid gigantism|congenital lipoatrophic diabetes|BSCL2 congenital generalized lipodystrophy (disease)|Berardinelli-Seip syndrome|Seip syndrome|BSCL2-related Brunzell syndrome|Berardinelli Seip congenital lipodystrophy type 2|Brunzell syndrome, BSCL2-related|Berardinelli syndrome|total lipodystrophy and acromegaloid gigantism|Brunzell syndrome BSCL2-related|lipodystrophy, Berardinelli-Seip congenital, type 2|lipodystrophy, congenital generalized, type 2; CGL2 gard_rare MONDO:0012680 nephronophthisis 7 biolink:Disease mondo MESH:C566930|OMIM:611498|DOID:0111116|UMLS:C1969092 Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. http://identifiers.org/omim/611498|DOID:0111116|MESH:C566930|UMLS:C1969092 http://purl.obolibrary.org/obo/MONDO_0012680 nephronophthisis type 7|GLIS2 nephronophthisis (disease)|NPHP7|nephronophthisis (disease) caused by mutation in GLIS2|nephronophthisis 7; NPHP7|nephronophthisis 7 MONDO:0024652 embryonic cyst of fallopian tube biolink:Disease mondo SCTID:302954008|ICD10:Q50.4 SNOMEDCT:302954008 http://purl.obolibrary.org/obo/MONDO_0024652 cyst of mesenteric remnant|embryonic cyst of fallopian tube MONDO:0024651 corticosteroid-induced osteoporosis biolink:Disease mondo UMLS:C1272167|SCTID:390833005|ICD9:733.09 SNOMEDCT:390833005|UMLS:C1272167 http://purl.obolibrary.org/obo/MONDO_0024651 osteoporosis due to corticosteroid|osteoporosis caused by corticosteroid MONDO:0024654 skull disorder biolink:Disease mondo SCTID:118945008|NCIT:C27655|UMLS:C1290854 A non-neoplastic or neoplastic disorder that affects structures of the skull. UMLS:C1290854|SNOMEDCT:118945008|NCIT:C27655 http://purl.obolibrary.org/obo/MONDO_0024654 skull disease or disorder|skull disease|disease of skull|disorder of skull|skull disorder|disorder of skull|disease or disorder of skull MONDO:0024653 skull neoplasm biolink:Disease mondo NCIT:C3375|SCTID:126538005|UMLS:C0037305|ICD9:239.2 A benign or malignant neoplasm that affects the bones and structures of the skull. NCIT:C3375|UMLS:C0037305|SNOMEDCT:126538005 http://purl.obolibrary.org/obo/MONDO_0024653 skull neoplasm|neoplasm of skull|tumor of the skull|skull tumor|neoplasm of the skull|tumor of skull HP:0011420 Age of death biolink:PhenotypicFeature mondo UMLS:C1546180 The age group when the cessation of life happens. http://purl.obolibrary.org/obo/HP_0011420 MONDO:0024656 colorectal lymphoma biolink:Disease mondo NCIT:C96498|UMLS:C3272822 An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas. NCIT:C96498|UMLS:C3272822 http://purl.obolibrary.org/obo/MONDO_0024656 large intestine lymphoma|primary colorectal lymphoma|large intestinal lymphoma|colorectal lymphoma|lymphoma of large intestine MONDO:0024655 rheumatic pericarditis biolink:Disease mondo SCTID:28381002|UMLS:C0264747 SNOMEDCT:28381002|UMLS:C0264747 http://purl.obolibrary.org/obo/MONDO_0024655 rheumatic pericarditis MONDO:0024658 extrahepatic bile duct sarcoma biolink:Disease mondo NCIT:C5029|UMLS:C2205442 A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. NCIT:C5029|UMLS:C2205442 http://purl.obolibrary.org/obo/MONDO_0024658 sarcoma of the extrahepatic bile duct|extrahepatic bile duct sarcoma|sarcoma of extrahepatic bile duct MONDO:0024657 obsolete macrocystic neurilemmoma biolink:Disease mondo DOID:3203 DOID:3203 http://purl.obolibrary.org/obo/MONDO_0024657 MONDO:0010008 sarcosinemia biolink:Disease mondo Orphanet:3129|ICD9:270.8|MESH:C537236|SCTID:64852002|GARD:0000158|MedDRA:10059299|UMLS:C0268563|ICD10:E72.5|OMIM:268900 Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. SNOMEDCT:64852002|ORPHA:3129|UMLS:C0268563|MESH:C537236|MEDDRA:10059299|http://identifiers.org/omim/268900 http://purl.obolibrary.org/obo/MONDO_0010008 SARD deficiency|sarcosinemia|sarcosine dehydrogenase complex deficiency|hypersarcosinemia|SARCOS|SARDH deficiency|sarcosinemia; SARCOS ordo_disease|gard_rare MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome biolink:Disease mondo OMIM:268850|UMLS:C0796142|Orphanet:2511|GARD:0003596|ICD10:Q87.8 Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. UMLS:C0796142|ORPHA:2511|http://identifiers.org/omim/268850 http://purl.obolibrary.org/obo/MONDO_0010007 sao Paulo MCA/Mr syndrome|Richieri Costa-Guion Almeida-Ramos syndrome|short stature, mental retardation, eye anomalies, and cleft Lip/palate|short stature, intellectual disability, eye anomalies, and cleft Lip/palate|Richieri-COSTA/Guion-Almeida syndrome|microbrachycephaly ptosis cleft lip ordo_malformation_syndrome|gard_rare MONDO:0009039 Baller-Gerold syndrome biolink:Disease mondo Orphanet:1225|MESH:C536788|OMIM:218600|GARD:0001602|ICD10:Q75.0|DOID:0050654|SCTID:77608001|UMLS:C0265308 Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). http://identifiers.org/omim/218600|SNOMEDCT:77608001|ORPHA:1225|UMLS:C0265308|DOID:0050654|MESH:C536788 http://purl.obolibrary.org/obo/MONDO_0009039 craniosynostosis with radial defects|BGS|BALLER-Gerold syndrome; BGS|Baller-Gerold syndrome|craniosynostosis-radial aplasia syndrome gard_rare|ordo_malformation_syndrome MONDO:0012669 Legius syndrome biolink:Disease mondo GARD:0010714|UMLS:C1969623|OMIM:611431|Orphanet:137605|SCTID:703541007|ICD10:Q85.0|ICD9:709.09|MESH:C548032 Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling. ORPHA:137605|SNOMEDCT:703541007|http://identifiers.org/omim/611431|MESH:C548032|UMLS:C1969623 http://purl.obolibrary.org/obo/MONDO_0012669 neurofibromatosis type 1 like syndrome|Legius syndrome|neurofibromatosis type 1-like syndrome|neurofibromatosis 1-like syndrome|NF1-like syndrome gard_rare|ordo_malformation_syndrome MONDO:0010009 SC phocomelia syndrome biolink:Disease mondo OMIM:269000|DOID:0050536|NCIT:C4681 A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. It is considered to be a mild variant of Roberts syndrome. NCIT:C4681|http://identifiers.org/omim/269000|DOID:0050536 http://purl.obolibrary.org/obo/MONDO_0010009 pseudothalidomide syndrome|hypomelia hypotrichosis Facial hemangioma syndrome|SC phocomelia syndrome|SC pseudothalidomide syndrome|Roberts-SC phocomelia syndrome|phocomelia-pseudothalidomide syndrome|Roberts-SC phocomelia syndrome MONDO:0009038 craniosynostosis-fibular aplasia syndrome biolink:Disease mondo SCTID:732250002|ICD10:Q87.2|Orphanet:1533|MESH:C565665|OMIM:218550|UMLS:C1857492 Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972. http://identifiers.org/omim/218550|UMLS:C1857492|SNOMEDCT:732250002|ORPHA:1533|MESH:C565665 http://purl.obolibrary.org/obo/MONDO_0009038 craniosynostosis with fibular aplasia|Lowry syndrome ordo_malformation_syndrome MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits biolink:Disease mondo OMIM:218530|MESH:C565666|UMLS:C1857493 http://identifiers.org/omim/218530|UMLS:C1857493|MESH:C565666 http://purl.obolibrary.org/obo/MONDO_0009037 craniosynostosis with anomalies of the cranial base and digits MONDO:0009036 cardiocranial syndrome, Pfeiffer type biolink:Disease mondo UMLS:C1857495|GARD:0008586|Orphanet:2872|MESH:C535578|ICD10:Q87.8|OMIM:218450|SCTID:720606005 Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit). http://identifiers.org/omim/218450|SNOMEDCT:720606005|UMLS:C1857495|ORPHA:2872|MESH:C535578 http://purl.obolibrary.org/obo/MONDO_0009036 Pfeiffer Cardiocranial syndrome|craniosynostosis-congenital heart disease-intellectual disability syndrome|sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis|Cardiocranial syndrome|craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis|Pfeiffer-type cardiocranial syndrome|Pfeiffer Singer Zschiesche syndrome|Pfeiffer-Singer-Zschiesche syndrome ordo_malformation_syndrome MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive biolink:Disease mondo GARD:0001582|MESH:C536570|OMIM:218400 Autosomal recessive form of craniometaphyseal dysplasia. http://identifiers.org/omim/218400|MESH:C536570 http://purl.obolibrary.org/obo/MONDO_0009035 craniometaphyseal dysplasia, autosomal recessive; CMDR|craniometaphyseal dysplasia, autosomal recessive type|craniometaphyseal dysplasia, autosomal recessive|CMDR|autosomal recessive craniometaphyseal dysplasia MONDO:0024650 drug-induced osteoporosis biolink:Disease mondo SCTID:14651005|ICD9:733.09 SNOMEDCT:14651005 http://purl.obolibrary.org/obo/MONDO_0024650 drug-induced osteoporosis MONDO:0009034 craniofacial dyssynostosis biolink:Disease mondo Orphanet:1516|MESH:C536455|GARD:0001575|UMLS:C1857511|ICD10:Q87.0|OMIM:218350 Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. http://identifiers.org/omim/218350|UMLS:C1857511|ORPHA:1516|MESH:C536455 http://purl.obolibrary.org/obo/MONDO_0009034 craniofacial dyssynostosis with short stature|bilateral lambdoid and sagittal synostosis|craniofacial dyssynostosis and short stature|craniosynostosis-craniofacial dysostosis syndrome ordo_malformation_syndrome|gard_rare MONDO:0009033 temtamy syndrome biolink:Disease mondo ICD10:Q87.8|SCTID:719947004|Orphanet:1777|UMLS:C1857512|GARD:0005688|OMIM:218340|NCIT:C148371|MESH:C536959 Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. SNOMEDCT:719947004|NCIT:C148371|http://identifiers.org/omim/218340|UMLS:C1857512|ORPHA:1777|MESH:C536959 http://purl.obolibrary.org/obo/MONDO_0009033 intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|Dysmorphism, corpus callosum agenesis and colobomas|TEMTAMY syndrome; TEMTYS|TEMTYS|mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|Temtamy-Shalash syndrome|craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation|temtamy syndrome ordo_malformation_syndrome|gard_rare MONDO:0012674 age related macular degeneration 10 biolink:Disease mondo UMLS:C1969108|OMIM:611488|DOID:0110022|MESH:C566935 Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene. http://identifiers.org/omim/611488|DOID:0110022|MESH:C566935|UMLS:C1969108 http://purl.obolibrary.org/obo/MONDO_0012674 macular degeneration, age-related, 10; ARMD10|age-related macular degeneration caused by mutation in TLR4|macular degeneration, age-related, 10|macular Degeneration, age-related, type 10|age related macular degeneration type 10|TLR4 age-related macular degeneration|ARMD10 MONDO:0010011 schizencephaly biolink:Disease mondo ICD10:Q04.6|Orphanet:799|NCIT:C99056|GARD:0000166|SCTID:253159001|OMIM:269160|ICD9:742.4 Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. http://identifiers.org/omim/269160|ORPHA:799|NCIT:C99056|SNOMEDCT:253159001 http://purl.obolibrary.org/obo/MONDO_0010011 schizencephaly ordo_disease|gard_rare MONDO:0009032 cranioectodermal dysplasia biolink:Disease mondo OMIMPS:218330|GARD:0000359|UMLS:CN016627|Orphanet:1515|UMLS:C0432235|NCIT:C129305|ICD10:Q87.5|ICD9:756.9|DOID:0050577|SCTID:254093009|UMLS:CN119432 Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). SNOMEDCT:254093009|UMLS:CN016627|UMLS:CN119432|NCIT:C129305|ORPHA:1515|DOID:0050577|UMLS:C0432235 http://purl.obolibrary.org/obo/MONDO_0009032 CED|cranioectodermal dysplasia|Sensenbrenner syndrome|Levin syndrome ordo_malformation_syndrome MONDO:0010010 Schinzel-Giedion syndrome biolink:Disease mondo MedDRA:10063540|SCTID:18899000|GARD:0000117|OMIM:269150|MESH:C536632|Orphanet:798|ICD9:759.89|UMLS:C0265227|ICD10:Q87.0|NCIT:C129308 Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. NCIT:C129308|http://identifiers.org/omim/269150|UMLS:C0265227|MESH:C536632|ORPHA:798|MEDDRA:10063540|SNOMEDCT:18899000 http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel Giedion midface-retraction syndrome|Sgs|Schinzel-Giedion syndrome|SGS|Schinzel-Giedion midface retraction syndrome|Schinzel Giedion syndrome|Schinzel-Giedion midface-retraction syndrome gard_rare|ordo_malformation_syndrome MONDO:0012675 corticosteroid-binding globulin deficiency biolink:Disease mondo OMIM:611489|ICD10:E27.8|Orphanet:199247|DOID:0090030|GARD:0013101|UMLS:C1852529 Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists. http://identifiers.org/omim/611489|DOID:0090030|ORPHA:199247|UMLS:C1852529 http://purl.obolibrary.org/obo/MONDO_0012675 CBG deficiency|transcortin deficiency|corticosteroid-binding globulin deficiency|corticosteroid-binding globulin, elevated|Transcortin deficiency|Cbg deficiency gard_rare|ordo_disease MONDO:0010013 schneckenbecken dysplasia biolink:Disease mondo SCTID:254049009|OMIM:269250|ICD9:756.9|GARD:0000169|DOID:0050775|ICD10:Q77.7|Orphanet:3144|UMLS:C0432194|MESH:C536637 Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. ORPHA:3144|http://identifiers.org/omim/269250|UMLS:C0432194|DOID:0050775|MESH:C536637|SNOMEDCT:254049009 http://purl.obolibrary.org/obo/MONDO_0010013 chondrodysplasia, lethal neonatal, with snail-like pelvis|chondrodysplasia lethal neonatal with snail like pelvis|SLC35D1-CDG|schneckenbecken dysplasia; SHNKND|chondrodysplasia with snail-like pelvis|SHNKND|schneckenbecken dysplasia gard_rare|ordo_malformation_syndrome MONDO:0012672 cholelithiasis biolink:Disease mondo SCTID:266474003|ICD9:574|ICD9:574.5|ICD9:574.20|EFO:0004799|DOID:10211|MESH:D002769|NCIT:C122822|UMLS:C0008350|OMIM:611465 The presence of calculi in the gallbladder. MESH:D002769|NCIT:C122822|http://identifiers.org/omim/611465|UMLS:C0008350|SNOMEDCT:266474003|DOID:10211 http://purl.obolibrary.org/obo/MONDO_0012672 gallbladder disease 4; GBD4|GBD4|gallbladder disease 4|gallstones|gallbladder disease type 4 MONDO:0009031 craniodiaphyseal dysplasia biolink:Disease mondo MESH:C562940|UMLS:C0410539|GARD:0001567|Orphanet:1513|SCTID:205506004|NCIT:C131429|ICD9:756.59|OMIM:218300|DOID:0080032|ICD10:M85.2 Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. MESH:C562940|http://identifiers.org/omim/218300|DOID:0080032|UMLS:C0410539|ORPHA:1513|NCIT:C131429|http://identifiers.org/omim/122860|SNOMEDCT:205506004 http://purl.obolibrary.org/obo/MONDO_0009031 CDD|craniodiaphyseal dysplasia|craniodiaphyseal dysplasia; CDD|Lionitis ordo_malformation_syndrome|gard_rare MONDO:0010012 autoimmune polyendocrinopathy type 2 biolink:Disease mondo GARD:0007611|ICD10:E31.0|Orphanet:3143|OMIM:269200|SCTID:83728000|ICD9:258.8|DOID:0050168|NCIT:C129728 Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. SNOMEDCT:83728000|http://identifiers.org/omim/269200|DOID:0050168|NCIT:C129728|ORPHA:3143 http://purl.obolibrary.org/obo/MONDO_0010012 autoimmune polyendocrine syndrome, type II|polyglandular autoimmune syndrome, type 2|PGA 2|autoimmune polyendocrine syndrome type 2|autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome|polyglandular deficiency syndrome type 2|multiple endocrine deficiency syndrome, type 2|autoimmune polyendocrine syndrome, type II; APS2|APS 2|diabetes mellitus, Addison disease, myxedema|diabetes mellitus, Addison's disease, myxedema|autoimmune polyglandular syndrome type 2|Schmidt's syndrome|APS type 2|polyendocrine autoimmune syndrome, type 2|APS2|Schmidt syndrome ordo_disease MONDO:0012673 CRCS2 biolink:Disease mondo OMIM:611469 http://identifiers.org/omim/611469 http://purl.obolibrary.org/obo/MONDO_0012673 colorectal cancer, susceptibility to, on chromosome 8Q24|colorectal cancer, susceptibility to, 2|CRCS2|colorectal cancer, susceptibility to, 2; CRCS2 predisposition MONDO:0009030 cranial nerves, recurrent paresis of biolink:Disease mondo UMLS:C1857530|MESH:C565672|OMIM:218200 http://identifiers.org/omim/218200|UMLS:C1857530|MESH:C565672 http://purl.obolibrary.org/obo/MONDO_0009030 cranial nerves, recurrent paresis of MONDO:0010015 anterior segment dysgenesis 7 biolink:Disease mondo DOID:0060648|Orphanet:289499|OMIM:269400|UMLS:C3151617 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene. http://identifiers.org/omim/269400|UMLS:C3151617|DOID:0060648|ORPHA:289499 http://purl.obolibrary.org/obo/MONDO_0010015 sclerocornea with Other ocular anomalies|sclerocornea with other ocular anomalies|CCMCO|ASGD7|corneal opacification and other ocular anomalies|congenital cataract microcornea with corneal opacity|anterior segment dysgenesis 7; ASGD7|corneal opacification with Other ocular anomalies|COPOA|PXDN anterior segment dysgenesis|corneal opacification with other ocular anomalies; COPOA|anterior segment dysgenesis caused by mutation in PXDN|corneal opacification with other ocular anomalies ordo_malformation_syndrome MONDO:0012678 ATFB5 biolink:Disease mondo MESH:C566932|UMLS:C1969099|OMIM:611494 http://identifiers.org/omim/611494|MESH:C566932|UMLS:C1969099 http://purl.obolibrary.org/obo/MONDO_0012678 ATFB5|atrial fibrillation, familial, 5|atrial fibrillation, familial, 5; ATFB5 MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type biolink:Disease mondo ICD10:Q78.8|OMIM:269300|Orphanet:85184|SCTID:278833002 Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. SNOMEDCT:278833002|ORPHA:85184|http://identifiers.org/omim/269300 http://purl.obolibrary.org/obo/MONDO_0010014 CRMDD|CRANIOMETADIAPHYSEAL dysplasia; CRMDD|CRANIOMETADIAPHYSEAL dysplasia|Schwartz-Lelek syndrome ordo_malformation_syndrome MONDO:0012679 autosomal recessive osteopetrosis 6 biolink:Disease mondo OMIM:611497|MESH:C566931|UMLS:C1969093|DOID:0110945|ICD10:Q78.2|GARD:0004156|Orphanet:210110 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene. http://identifiers.org/omim/611497|MESH:C566931|UMLS:C0432261|UMLS:C1969093|ORPHA:210110|DOID:0110945 http://purl.obolibrary.org/obo/MONDO_0012679 autosomal recessive intermediate osteopetrosis|osteopetrosis, autosomal recessive 6; OPTB6|osteopetrosis autosomal recessive intermediate form|osteopetrosis (disease) caused by mutation in PLEKHM1|autosomal recessive osteopetrosis intermediate form|osteopetrosis, autosomal recessive type 6|osteopetrosis, autosomal recessive, Intermediate form|intermediate osteopetrosis|osteopetrosis autosomal recessive 6|OPTB6|autosomal recessive osteopetrosis type 6|PLEKHM1 osteopetrosis (disease)|osteopetrosis, autosomal recessive 6 gard_rare|ordo_malformation_syndrome MONDO:0012676 autosomal recessive osteopetrosis 4 biolink:Disease mondo MESH:C566933|DOID:0110944|OMIM:611490|GARD:0005993 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene. http://identifiers.org/omim/611490|MESH:C566933|DOID:0110944 http://purl.obolibrary.org/obo/MONDO_0012676 autosomal recessive osteopetrosis caused by mutation in CLCN7|osteopetrosis, autosomal recessive type 4|infantile malignant osteopetrosis 2|osteopetrosis infantile malignant 2|autosomal recessive malignant osteopetrosis caused by mutation in CLCN7|OPTB4|osteopetrosis, autosomal recessive 4|CLCN7 autosomal recessive osteopetrosis|osteopetrosis, infantile malignant 2|CLCN7 autosomal recessive malignant osteopetrosis|osteopetrosis autosomal recessive 4|osteopetrosis, autosomal recessive 4; OPTB4|autosomal recessive osteopetrosis type 4 gard_rare MONDO:0010017 sea-blue histiocyte syndrome biolink:Disease mondo EFO:1001170|Orphanet:158029|SCTID:37821003|NCIT:C85062|GARD:0008241|DOID:4423|MESH:D012618|OMIM:269600|ICD10:D76.3|UMLS:C0036489 A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly. SNOMEDCT:37821003|DOID:4423|ORPHA:158029|http://identifiers.org/omim/269600|MESH:D012618|UMLS:C0036489|NCIT:C85062 http://purl.obolibrary.org/obo/MONDO_0010017 SEA-blue histiocyte disease|histiocytosis, Sea-blue|sea-blue histiocytosis|inherited Lipemic splenomegaly clingen|ordo_disease MONDO:0012677 atrial fibrillation, familial, 4 biolink:Disease mondo MESH:C566244|OMIM:611493|UMLS:C1862394 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene. UMLS:C1862394|MESH:C566244|http://identifiers.org/omim/611493 http://purl.obolibrary.org/obo/MONDO_0012677 ATFB4|atrial fibrillation, familial, type 4|familial atrial fibrillation caused by mutation in KCNE2|KCNE2 familial atrial fibrillation|atrial fibrillation, familial, 4|atrial fibrillation, familial, 4; ATFB4 MONDO:0010016 sclerosteosis 1 biolink:Disease mondo ICD10:M85.2|DOID:0060756|UMLS:CN032489|OMIM:269500 Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene. UMLS:CN032489|http://identifiers.org/omim/269500|DOID:0060756 http://purl.obolibrary.org/obo/MONDO_0010016 sclerosteosis 1; SOST1|SOST sclerosteosis|SOST1|sclerosteosis 1|sclerosteosis type 1|cortical hyperostosis with syndactyly|SOST|sclerosteosis caused by mutation in SOST HGNC:11875 TMPO biolink:OntologyClass mondo http://identifiers.org/hgnc/11875 MONDO:0024649 optic tract astrocytoma biolink:Disease mondo UMLS:C1336971|NCIT:C7533 An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. UMLS:C1336971|NCIT:C7533 http://purl.obolibrary.org/obo/MONDO_0024649 astrocytoma (excluding glioblastoma) of optic tract|visual pathway astrocytoma|optic tract astrocytoma (excluding glioblastoma)|optic tract astrocytoma MONDO:0024648 optic tract meningioma biolink:Disease mondo UMLS:C1336972|NCIT:C5587 A meningioma that affects the visual pathway. NCIT:C5587|UMLS:C1336972 http://purl.obolibrary.org/obo/MONDO_0024648 visual pathway meningioma|meningioma of visual pathway|meningioma of the visual pathway|optic tract meningioma|optic tract meningioma (disease)|meningioma of the optic tract|meningioma (disease) of optic tract|meningioma of optic tract MONDO:0012670 autosomal recessive nonsyndromic deafness 63 biolink:Disease mondo OMIM:611451|ICD10:H90.3|MESH:C566951|DOID:0110515|UMLS:C1969621 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene. http://identifiers.org/omim/611451|MESH:C566951|DOID:0110515|UMLS:C1969621 http://purl.obolibrary.org/obo/MONDO_0012670 deafness, autosomal recessive 63|deafness, autosomal recessive 63; DFNB63|LRTOMT autosomal recessive nonsyndromic deafness|autosomal recessive deafness 63|deafness, autosomal recessive type 63|DFNB63|autosomal recessive nonsyndromic deafness type 63|autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT MONDO:0012671 ETM3 biolink:Disease mondo OMIM:611456|MESH:C566949|UMLS:C1969617 http://identifiers.org/omim/611456|MESH:C566949|UMLS:C1969617 http://purl.obolibrary.org/obo/MONDO_0012671 ETM3|tremor, hereditary essential, 3|tremor, hereditary essential, 3; ETM3 GO:0051234 establishment of localization biolink:OntologyClass mondo Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/GO_0051234 establishment of localisation GO:0051235 maintenance of location biolink:OntologyClass mondo Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. http://purl.obolibrary.org/obo/GO_0051235 maintenance of localization|retention|storage|sequestering GO:0051239 regulation of multicellular organismal process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/GO_0051239 NCBITaxon:6951 Astigmata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6951 GO:0016903 oxidoreductase activity, acting on the aldehyde or oxo group of donors biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/GO_0016903 oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors CHEBI:26020 phosphate biolink:ChemicalSubstance mondo Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom. http://purl.obolibrary.org/obo/CHEBI_26020 phosphates|phosphates GO:2000860 positive regulation of aldosterone secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of aldosterone secretion. http://purl.obolibrary.org/obo/GO_2000860 HGNC:11843 TLL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11843 HGNC:6758 MAB21L2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6758 NCBITaxon:6960 Hexapoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6960 Uniramia|Atelocerata|insects|Tracheata|insects GO:0051247 positive regulation of protein metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein. http://purl.obolibrary.org/obo/GO_0051247 up-regulation of protein metabolic process|positive regulation of protein metabolism|up regulation of protein metabolic process|activation of protein metabolic process|stimulation of protein metabolic process|upregulation of protein metabolic process GO:0051248 negative regulation of protein metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of chemical reactions and pathways involving a protein. http://purl.obolibrary.org/obo/GO_0051248 down-regulation of protein metabolic process|down regulation of protein metabolic process|negative regulation of protein metabolism|inhibition of protein metabolic process|downregulation of protein metabolic process GO:0051245 negative regulation of cellular defense response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the rate of the cellular defense response. http://purl.obolibrary.org/obo/GO_0051245 down regulation of cellular defense response|downregulation of cellular defense response|inhibition of cellular defense response|negative regulation of cellular defence response|down-regulation of cellular defense response GO:0051246 regulation of protein metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein. http://purl.obolibrary.org/obo/GO_0051246 regulation of protein metabolism MONDO:0000601 autoimmune disease of urogenital tract biolink:Disease mondo DOID:0060049 A hypersensitivity reaction type II disease that involves the genitourinary system. DOID:0060049 http://purl.obolibrary.org/obo/MONDO_0000601 genitourinary system autoimmune disease|genitourinary system hypersensitivity reaction type II disease|autoimmune disease of genitourinary system MONDO:0000600 nosophobia biolink:Disease mondo DOID:0060048|EFO:1001903 A specific phobia that involves an irrational fear of contracting a disease. DOID:0060048 http://purl.obolibrary.org/obo/MONDO_0000600 GO:0051249 regulation of lymphocyte activation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/GO_0051249 HGNC:11849 TLR3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11849 HGNC:11848 TLR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11848 HGNC:11847 TLR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11847 NCBITaxon:63235 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_63235 HGNC:11851 TLR5 biolink:OntologyClass mondo http://identifiers.org/hgnc/11851 HGNC:6764 MAD2L2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6764 HGNC:11850 TLR4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11850 HGNC:6769 SMAD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6769 HGNC:11854 TSPAN7 biolink:OntologyClass mondo http://identifiers.org/hgnc/11854 GO:0051240 positive regulation of multicellular organismal process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/GO_0051240 up regulation of multicellular organismal process|stimulation of multicellular organismal process|up-regulation of multicellular organismal process|activation of multicellular organismal process|upregulation of multicellular organismal process IAO:0000002 example to be eventually removed biolink:OntologyClass mondo http://purl.obolibrary.org/obo/IAO_0000002 GO:0051241 negative regulation of multicellular organismal process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of an organismal process, the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/GO_0051241 downregulation of multicellular organismal process|down regulation of multicellular organismal process|inhibition of multicellular organismal process|down-regulation of multicellular organismal process HGNC:6762 MAD1L1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6762 NCBITaxon:6936 Argasidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6936 softbacked ticks|soft ticks NCBITaxon:6935 Ixodida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6935 ticks NCBITaxon:6934 Parasitiformes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6934 NCBITaxon:6933 Acari organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6933 mites & ticks|mites and ticks|Acarina HGNC:23801 SIPA1L3 biolink:OntologyClass mondo http://identifiers.org/hgnc/23801 NCBITaxon:6939 Ixodidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6939 hardbacked ticks|hard ticks|scale ticks NCBITaxon:6937 Ornithodoros organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6937 Alectorobius|relapsing fever ticks HGNC:11817 TIMM8A biolink:OntologyClass mondo http://identifiers.org/hgnc/11817 HGNC:6774 SMAD9 biolink:OntologyClass mondo http://identifiers.org/hgnc/6774 UBERON:0008447 intertarsal joint biolink:AnatomicalEntity mondo Intertarsal articulations are the joints of the tarsus. The specific intertarsal articulations are: Talocalcaneal articulation Talocalcaneonavicular articulation Calcaneocuboid articulation Cuneonavicular articulation Cuboideonavicular articulation Intercuneiform articulation Cuneocuboid articulation http://purl.obolibrary.org/obo/UBERON_0008447 articulationes intertarsales|articulationes intertarsale|articulationes intertarseae|tarsal joints|intertarsal joint|intertarsal articulation|intertarsal|intermetatarsal joint|tarsal joint HGNC:6776 MAF biolink:OntologyClass mondo http://identifiers.org/hgnc/6776 HGNC:11822 TIMP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11822 GO:0051250 negative regulation of lymphocyte activation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/GO_0051250 down-regulation of lymphocyte activation|down regulation of lymphocyte activation|inhibition of lymphocyte activation|downregulation of lymphocyte activation GO:0051251 positive regulation of lymphocyte activation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/GO_0051251 up regulation of lymphocyte activation|activation of lymphocyte activation|stimulation of lymphocyte activation|upregulation of lymphocyte activation|up-regulation of lymphocyte activation HGNC:4118 GALK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4118 HGNC:4116 GALE biolink:OntologyClass mondo http://identifiers.org/hgnc/4116 GO:0051254 positive regulation of RNA metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/GO_0051254 up-regulation of RNA metabolic process|up regulation of RNA metabolic process|activation of RNA metabolic process|positive regulation of RNA metabolism|stimulation of RNA metabolic process|upregulation of RNA metabolic process HGNC:4115 GALC biolink:OntologyClass mondo http://identifiers.org/hgnc/4115 HGNC:6770 SMAD4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6770 HGNC:4114 GAL biolink:OntologyClass mondo http://identifiers.org/hgnc/4114 GO:0051252 regulation of RNA metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolism HGNC:6772 SMAD6 biolink:OntologyClass mondo http://identifiers.org/hgnc/6772 GO:0051253 negative regulation of RNA metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/GO_0051253 inhibition of RNA metabolic process|downregulation of RNA metabolic process|negative regulation of RNA metabolism|down-regulation of RNA metabolic process|down regulation of RNA metabolic process HGNC:6773 SMAD7 biolink:OntologyClass mondo http://identifiers.org/hgnc/6773 NCBITaxon:6947 Prostigmata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6947 NCBITaxon:6946 Acariformes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6946 NCBITaxon:6945 Ixodes scapularis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6945 black-legged tick|blacklegged tick|deer tick|Ixodes dammini|shoulder tick NCBITaxon:6944 Ixodes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6944 NCBITaxon:6943 Amblyomma americanum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6943 Lone Star tick|Haemalastor americanus NCBITaxon:6942 Amblyomma organism taxon mondo GC_ID:1|PMID:12386418 http://purl.obolibrary.org/obo/NCBITaxon_6942 Aponomma HGNC:11825 NKX2-1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11825 HGNC:11824 TINF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11824 HGNC:11828 TJP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11828 HGNC:4122 GALNS biolink:OntologyClass mondo http://identifiers.org/hgnc/4122 HGNC:11834 TKT biolink:OntologyClass mondo http://identifiers.org/hgnc/11834 HGNC:11831 TK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11831 HGNC:23805 ASXL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/23805 UBERON:0008430 lumbar vertebral foramen biolink:AnatomicalEntity mondo A vertebral foramen that is part of a lumbar vertebra. http://purl.obolibrary.org/obo/UBERON_0008430 IAO:0000027 data item biolink:OntologyClass mondo a data item is an information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements. http://purl.obolibrary.org/obo/IAO_0000027 UBERON:0008431 sacral foramen biolink:AnatomicalEntity mondo A vertebral foramen that is part of a sacral vertebra. http://purl.obolibrary.org/obo/UBERON_0008431 UBERON:0008432 thoracic vertebral foramen biolink:AnatomicalEntity mondo A vertebral foramen that is part of a thoracic vertebra. http://purl.obolibrary.org/obo/UBERON_0008432 HGNC:6783 MAG biolink:OntologyClass mondo http://identifiers.org/hgnc/6783 MONDO:0000630 immune system organ benign neoplasm biolink:Disease mondo DOID:0060092 A benign neoplasm that involves the immune organ. DOID:0060092 http://purl.obolibrary.org/obo/MONDO_0000630 immune organ benign neoplasm GO:2000828 regulation of parathyroid hormone secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of parathyroid hormone secretion. http://purl.obolibrary.org/obo/GO_2000828 regulation of parathyrin secretion|regulation of parathormone secretion|regulation of PTH secretion GO:2000829 negative regulation of parathyroid hormone secretion biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of parathyroid hormone secretion. http://purl.obolibrary.org/obo/GO_2000829 negative regulation of PTH secretion|negative regulation of parathyrin secretion|negative regulation of parathormone secretion MONDO:0000634 thoracic benign neoplasm biolink:Disease mondo SCTID:255059002|DOID:0060097|NCIT:C4565|UMLS:C0346440|ICD9:229.8 A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma. DOID:0060097|NCIT:C4565|UMLS:C0346440|SNOMEDCT:255059002 http://purl.obolibrary.org/obo/MONDO_0000634 thoracic segment of trunk benign neoplasm|benign thoracic tumor|benign tumor of thorax|benign tumor of the thorax|benign thoracic neoplasm|benign neoplasm of thorax|benign neoplasm of the thorax MONDO:0000633 sensory organ benign neoplasm biolink:Disease mondo DOID:0060096 A benign neoplasm that involves the sense organ. DOID:0060096 http://purl.obolibrary.org/obo/MONDO_0000633 sense organ benign neoplasm MONDO:0000632 uterine benign neoplasm biolink:Disease mondo ICD9:219.9|DOID:0060095|UMLS:C0153999|SCTID:92470003|NCIT:C3609|ICD9:219.8|COHD:195500 A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp. DOID:0060095|SNOMEDCT:92470003|NCIT:C3609|UMLS:C0153999 http://purl.obolibrary.org/obo/MONDO_0000632 benign uterus neoplasms|benign uterus tumors|benign uterine neoplasm|Uterous tumors, benign|benign uterine tumors|uterine tumors, benign|uterine neoplasms, benign|benign uterine tumor|benign tumor of uterus|benign tumor of the uterus|Uterous neoplasms, benign|benign uterine neoplasms|benign neoplasm of uterus|benign uterus tumor|benign neoplasm of the uterus|uterus benign neoplasm|benign uterine neoplasm NOS|benign uterus neoplasm MONDO:0000631 bone benign neoplasm biolink:Disease mondo DOID:0060094|COHD:74606|ICD9:213.9|NCIT:C4880|SCTID:92027006 A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites. DOID:0060094|SNOMEDCT:92027006|NCIT:C4880 http://purl.obolibrary.org/obo/MONDO_0000631 benign tumor of bone|benign tumor of the bone|benign neoplasm of bone|benign neoplasm of the bone|benign bone tumor|benign osseous tumor|benign osseous neoplasm|bone tissue benign neoplasm|benign bone neoplasm MONDO:0012616 obsolete MRT8 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012616 MONDO:0012617 MRT9 biolink:Disease mondo MESH:C567014|UMLS:C1970195|OMIM:611095 http://identifiers.org/omim/611095|UMLS:C1970195|MESH:C567014 http://purl.obolibrary.org/obo/MONDO_0012617 mental retardation, autosomal recessive 9; MRT9|MRT9|mental retardation, autosomal recessive 9|mental retardation, autosomal recessive 26|intellectual disability, autosomal recessive 9; MRT9|intellectual disability, autosomal recessive 26|intellectual disability, autosomal recessive 9 MONDO:0012614 intellectual disability, autosomal recessive 6 biolink:Disease mondo MESH:C567017|OMIM:611092|UMLS:C1970198 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene. UMLS:C1970198|MESH:C567017|http://identifiers.org/omim/611092 http://purl.obolibrary.org/obo/MONDO_0012614 mental retardation, autosomal recessive type 6|GRIK2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 6|autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2|mental retardation, autosomal recessive 6|mental retardation, autosomal recessive 6; MRT6|intellectual disability, autosomal recessive 6; MRT6|MRT6|intellectual disability, autosomal recessive 6 MONDO:0012615 intellectual disability, autosomal recessive 7 biolink:Disease mondo UMLS:C1970197|MESH:C567016|OMIM:611093 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene. UMLS:C1970197|MESH:C567016|http://identifiers.org/omim/611093 http://purl.obolibrary.org/obo/MONDO_0012615 intellectual disability, autosomal recessive 22|mental retardation, autosomal recessive type 7|intellectual disability, autosomal recessive type 7|mental retardation, autosomal recessive 7; MRT7|TUSC3 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 7|MRT7|intellectual disability, autosomal recessive 7; MRT7|mental retardation, autosomal recessive 22|autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3|intellectual disability, autosomal recessive 7 GO:2000823 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_2000823 GO:2000824 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_2000824 GO:2000825 positive regulation of androgen receptor activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of androgen receptor activity. http://purl.obolibrary.org/obo/GO_2000825 MONDO:0012618 MRT10 biolink:Disease mondo MESH:C567013|UMLS:C1970194|OMIM:611096 http://identifiers.org/omim/611096|UMLS:C1970194|MESH:C567013 http://purl.obolibrary.org/obo/MONDO_0012618 mental retardation, autosomal recessive 10; MRT10|intellectual disability, autosomal recessive 20|intellectual disability, autosomal recessive 10; MRT10|intellectual disability, autosomal recessive 10|mental retardation, autosomal recessive 20|mental retardation, autosomal recessive 10|MRT10 MONDO:0012619 MRT11 biolink:Disease mondo MESH:C567012|OMIM:611097|UMLS:C1970193 http://identifiers.org/omim/611097|UMLS:C1970193|MESH:C567012 http://purl.obolibrary.org/obo/MONDO_0012619 mental retardation, autosomal recessive 11; MRT11|intellectual disability, autosomal recessive 11|intellectual disability, autosomal recessive 11; MRT11|MRT11|mental retardation, autosomal recessive 11 MONDO:0012620 HPC10 biolink:Disease mondo OMIM:611100|MESH:C567011|UMLS:C1970192 UMLS:C1970192|MESH:C567011|http://identifiers.org/omim/611100 http://purl.obolibrary.org/obo/MONDO_0012620 HPC10|prostate cancer, hereditary, 10; HPC10|prostate cancer, hereditary, 10 MONDO:0012623 MRT4 biolink:Disease mondo UMLS:C1970179|OMIM:611107|MESH:C567008 UMLS:C1970179|MESH:C567008|http://identifiers.org/omim/611107 http://purl.obolibrary.org/obo/MONDO_0012623 MRT4|mental retardation, autosomal recessive 4|intellectual disability, autosomal recessive 4|intellectual disability, autosomal recessive 4; MRT4|mental retardation, autosomal recessive 4; MRT4 MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency biolink:Disease mondo UMLS:C1970173|SCTID:725046003|Orphanet:99901|ICD10:E71.3|OMIM:611126|MESH:C567006 Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy. SNOMEDCT:725046003|UMLS:C1970173|MESH:C567006|http://identifiers.org/omim/611126|ORPHA:99901 http://purl.obolibrary.org/obo/MONDO_0012624 acyl-CoA dehydrogenase 9 deficiency|Acad9 deficiency|mitochondrial complex I deficiency due to ACAD9 deficiency|mitochondrial Complex 1 deficiency due to Acad9 deficiency|ACAD9 deficiency ordo_disease MONDO:0012621 deafness-infertility syndrome biolink:Disease mondo MESH:C567010|ICD10:Q93.5|GARD:0011911|Orphanet:94064|SCTID:700489002|OMIM:611102|ICD9:758.39 Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility. ORPHA:94064|SNOMEDCT:700489002|MESH:C567010|http://identifiers.org/omim/611102 http://purl.obolibrary.org/obo/MONDO_0012621 dis|chromosome 15Q15.3 deletion syndrome|deafness-infertility syndrome; dis|deafness, sensorineural, and Male infertility|deafness-infertility syndrome|sensorineural deafness and male infertility gard_rare|ordo_malformation_syndrome MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome biolink:Disease mondo ICD10:E75.2|GARD:0012652|SCTID:703537008|OMIM:611105|Orphanet:137898|MESH:C567009 This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. MESH:C567009|ORPHA:137898|http://identifiers.org/omim/611105|SNOMEDCT:703537008 http://purl.obolibrary.org/obo/MONDO_0012622 leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation|LBSL|mitochondrial aspartyl-tRNA synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement - high lactate|leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation|leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation; LBSL|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome ordo_disease MONDO:0000627 benign endocrine neoplasm biolink:Disease mondo ICD9:227.8|SCTID:92085000|DOID:0060089|UMLS:C0347524|ICD9:227.9|COHD:136937|NCIT:C4621 A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. DOID:0060089|SNOMEDCT:92085000|NCIT:C4621|UMLS:C0347524 http://purl.obolibrary.org/obo/MONDO_0000627 endocrine organ benign neoplasm|benign neoplasm of the endocrine gland|benign endocrine neoplasm|benign neoplasm of endocrine gland|benign endocrine gland tumor|benign tumor of the endocrine gland|benign endocrine gland neoplasm|benign tumor of endocrine gland|benign endocrine tumor|endocrine gland benign neoplasm GO:0051272 positive regulation of cellular component movement biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/GO_0051272 positive regulation of cellular component motion MONDO:0000626 vestibular gland benign neoplasm biolink:Disease mondo DOID:0060088 A benign neoplasm that involves the vestibular gland. DOID:0060088 http://purl.obolibrary.org/obo/MONDO_0000626 vestibular gland benign neoplasm MONDO:0000625 benign male reproductive system neoplasm biolink:Disease mondo UMLS:C0947786|DOID:0060087|NCIT:C4777 A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor. UMLS:C0947786|DOID:0060087|NCIT:C4777 http://purl.obolibrary.org/obo/MONDO_0000625 benign Male reproductive system tumor|male reproductive organ benign neoplasm|benign Male reproductive system neoplasm GO:0051270 regulation of cellular component movement biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/GO_0051270 regulation of cellular component motion|regulation of cell movement MONDO:0000624 benign female reproductive system neoplasm biolink:Disease mondo DOID:0060086|NCIT:C4934|UMLS:C0744514 A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor. DOID:0060086|UMLS:C0744514|NCIT:C4934 http://purl.obolibrary.org/obo/MONDO_0000624 benign female reproductive system neoplasm|benign gynecologic tumor|benign female reproductive system tumor|benign gynecologic neoplasm|female reproductive organ benign neoplasm GO:0051271 negative regulation of cellular component movement biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/GO_0051271 negative regulation of cellular component motion HGNC:4138 GANAB biolink:OntologyClass mondo http://identifiers.org/hgnc/4138 GO:0051276 chromosome organization biolink:OntologyClass mondo A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. http://purl.obolibrary.org/obo/GO_0051276 nuclear genome maintenance|maintenance of genome integrity|chromosome organization and biogenesis|chromosome organisation HGNC:4137 GAN biolink:OntologyClass mondo http://identifiers.org/hgnc/4137 HGNC:4136 GAMT biolink:OntologyClass mondo http://identifiers.org/hgnc/4136 MONDO:0000629 cardiovascular organ benign neoplasm biolink:Disease mondo DOID:0060091 A benign neoplasm that involves the cardiovascular system. DOID:0060091 http://purl.obolibrary.org/obo/MONDO_0000629 cardiovascular system benign neoplasm HGNC:4135 GALT biolink:OntologyClass mondo http://identifiers.org/hgnc/4135 MONDO:0000628 central nervous system organ benign neoplasm biolink:Disease mondo DOID:0060090 A benign neoplasm that involves the central nervous system. DOID:0060090 http://purl.obolibrary.org/obo/MONDO_0000628 central nervous system benign neoplasm MONDO:0000641 obsolete cerebellar medulloblastoma biolink:Disease mondo A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. http://purl.obolibrary.org/obo/MONDO_0000641 MONDO:0000640 central nervous system primitive neuroectodermal neoplasm biolink:Disease mondo DOID:0060103|NCIT:C5398|UMLS:CN201960 A neuroectodermal tumor that involves the central nervous system. NCIT:C5398|UMLS:CN201960|DOID:0060103 http://purl.obolibrary.org/obo/MONDO_0000640 central nervous system primitive neuroectodermal neoplasm|CNS primitive neuroectodermal neoplasm|central nervous system neuroectodermal tumor|CNS primitive neuroectodermal tumor|central primitive neuroectodermal tumor|primitive neuroectodermal tumor of central nervous system|CNS embryonal tumor, not otherwise specified|central nervous system embryonal tumor, not otherwise specified|CNS PNET|central nervous system PNET|central nervous system primitive neuroectodermal tumor (WHO grade IV)|central nervous system embryonal tumor, NOS|central nervous system primitive neuroectodermal tumor|CNS embryonal tumor, NOS|central primitive neuroectodermal neoplasm CHEBI:28659 phosphorus atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_28659 Phosphor|phosphorus|Phosphorus|P|fosforo|phosphore|15P|phosphorus MONDO:0000645 fallopian tube benign neoplasm biolink:Disease mondo DOID:0060111|ICD10:D28.2|NCIT:C4517|MedDRA:10053865|Orphanet:180237|UMLS:C0346190|SCTID:92100009 A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma. DOID:0060111|NCIT:C4517|UMLS:C0346190|MEDDRA:10053865|SNOMEDCT:92100009|ORPHA:180237 http://purl.obolibrary.org/obo/MONDO_0000645 benign tumor of fallopian tube|fallopian tube neoplasm, benign|benign tumor of the fallopian tube|benign neoplasm of fallopian tube|benign neoplasm of the fallopian tube|benign fallopian tube tumor|benign fallopian tube neoplasm|fallopian tube tumor, benign|fallopian tube benign neoplasm|benign tumor of fallopian tubes ordo_disease MONDO:0000644 cervical benign neoplasm biolink:Disease mondo DOID:0060110|UMLS:C0153997|SCTID:92056006|NCIT:C3607|COHD:196364 A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma. DOID:0060110|SNOMEDCT:92056006|NCIT:C3607|UMLS:C0153997 http://purl.obolibrary.org/obo/MONDO_0000644 benign tumor of uterine cervix|benign tumor of the cervix uteri|benign neoplasm of cervix uteri|benign tumor of the uterine cervix|benign neoplasm of uterine cervix|benign neoplasm of the cervix uteri|benign cervix uteri tumor|benign uterine cervix neoplasm|benign uterine cervix tumor|benign neoplasm of the uterine cervix|benign cervix uteri neoplasm NOS|benign cervix uteri neoplasm|uterine cervix benign neoplasm|benign cervical neoplasm|benign tumor of cervix uteri MONDO:0000643 vulvar benign neoplasm biolink:Disease mondo UMLS:C0154003|NCIT:C3611|DOID:0060109|SCTID:92486005|COHD:438390 A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma. DOID:0060109|UMLS:C0154003|NCIT:C3611|SNOMEDCT:92486005 http://purl.obolibrary.org/obo/MONDO_0000643 benign vulvar tumor|benign vulvar neoplasm|mammalian vulva benign neoplasm|benign neoplasm of the vulva|benign neoplasm of vulva|benign vulva tumor|benign tumor of the vulva|benign tumor of vulva|benign vulva neoplasm|benign vulval neoplasm|vulva benign neoplasm MONDO:0000642 brain meningioma biolink:Disease mondo DOID:0060106 A meningioma (disease) that involves the brain. DOID:0060106 http://purl.obolibrary.org/obo/MONDO_0000642 brain meningioma (disease)|meningioma (disease) of brain MONDO:0012605 isolated microphthalmia 5 biolink:Disease mondo Orphanet:251279|MESH:C567024|UMLS:C1970236|OMIM:611040|ICD10:Q15.8|DOID:0060837 Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene. http://identifiers.org/omim/611040|ORPHA:251279|DOID:0060837|UMLS:C1970236|MESH:C567024 http://purl.obolibrary.org/obo/MONDO_0012605 microphthalmia, isolated type 5|isolated microphthalmia caused by mutation in MFRP|Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|isolated microphthalmia type 5|microphthalmia, isolated 5; MCOP5|posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen|microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen|MCOP5|microphthalmia, isolated 5|MFRP isolated microphthalmia ordo_disease GO:2000830 positive regulation of parathyroid hormone secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of parathyroid hormone secretion. http://purl.obolibrary.org/obo/GO_2000830 positive regulation of parathyrin secretion|positive regulation of parathormone secretion|positive regulation of PTH secretion MONDO:0012606 mycobacterium tuberculosis, susceptibility to, 2 biolink:Disease mondo OMIM:611046 http://identifiers.org/omim/611046 http://purl.obolibrary.org/obo/MONDO_0012606 MTBS2|Mycobacterium tuberculosis, susceptibility to, type 2|mycobacterium tuberculosis, susceptibility to, 2 predisposition GO:2000831 regulation of steroid hormone secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of steroid hormone secretion. http://purl.obolibrary.org/obo/GO_2000831 MONDO:0012603 episodic kinesigenic dyskinesia 2 biolink:Disease mondo ICD10:G24.8|MESH:C567026|OMIM:611031|DOID:0090054|UMLS:C1970238 A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1. http://identifiers.org/omim/611031|DOID:0090054|UMLS:C1970238|MESH:C567026 http://purl.obolibrary.org/obo/MONDO_0012603 episodic kinesigenic dyskinesia 2; EKD2|episodic kinesigenic dyskinesia type 2|dystonia 19|EKD2|episodic kinesigenic dyskinesia 2 GO:2000832 negative regulation of steroid hormone secretion biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of steroid hormone secretion. http://purl.obolibrary.org/obo/GO_2000832 MONDO:0012604 isolated microphthalmia 3 biolink:Disease mondo DOID:0060842|MESH:C567025|ICD10:Q11.0|UMLS:C1970237|OMIM:611038 Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene. http://identifiers.org/omim/611038|DOID:0060842|UMLS:C1970237|MESH:C567025 http://purl.obolibrary.org/obo/MONDO_0012604 isolated microphthalmia caused by mutation in RAX|isolated microphthalmia caused by mutation in rax|RAX isolated microphthalmia|microphthalmia, isolated 3|rax isolated microphthalmia|MCOP3|isolated microphthalmia type 3|microphthalmia, isolated type 3|microphthalmia, isolated 3; MCOP3 HGNC:11802 TIA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11802 GO:2000833 positive regulation of steroid hormone secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of steroid hormone secretion. http://purl.obolibrary.org/obo/GO_2000833 MONDO:0012609 Alzheimer disease 12 biolink:Disease mondo OMIM:611073|ICD10:G30|MESH:C567022|UMLS:C1970209|DOID:0110045 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. MESH:C567022|http://identifiers.org/omim/611073|DOID:0110045|UMLS:C1970209 http://purl.obolibrary.org/obo/MONDO_0012609 Ad12|Alzheimer disease 12|Alzheimer disease, familial, 12|Alzheimer disease familial 12|Alzheimer's disease 12|AD12|Alzheimer's disease type 12|Alzheimer disease type 12 GO:2000834 regulation of androgen secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of androgen secretion. http://purl.obolibrary.org/obo/GO_2000834 NCBITaxon:2720871 Circumdati organism taxon mondo GC_ID:1|PMID:28082760 http://purl.obolibrary.org/obo/NCBITaxon_2720871 GO:2000835 negative regulation of androgen secretion biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of androgen secretion. http://purl.obolibrary.org/obo/GO_2000835 MONDO:0012607 asthma-related traits, susceptibility to, 5 biolink:Disease mondo OMIM:611064 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene. http://identifiers.org/omim/611064 http://purl.obolibrary.org/obo/MONDO_0012607 asthma-related traits, susceptibility to, 5|IRAK3 inherited susceptibility to asthma|inherited susceptibility to asthma caused by mutation in IRAK3|asthma-related traits, susceptibility to, type 5|ASRT5 predisposition GO:2000836 positive regulation of androgen secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of androgen secretion. http://purl.obolibrary.org/obo/GO_2000836 MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset biolink:Disease mondo OMIM:611067|Orphanet:206580|UMLS:C1970211|MESH:C567023|ICD10:G12.2 Autosomal recessive lower motor neuron disease with childhood onset is a rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. http://identifiers.org/omim/611067|ORPHA:206580|UMLS:C1970211|MESH:C567023 http://purl.obolibrary.org/obo/MONDO_0012608 distal spinal muscular atrophy type 4|autosomal recessive distal spinal muscular atrophy type 4|spinal muscular atrophy, distal, autosomal recessive, 4|dSMA4|spinal muscular atrophy, distal, autosomal recessive, 4; DSMA4|spinal muscular atrophy, distal, autosomal recessive, type 4|DSMA4 ordo_disease MONDO:0012612 intellectual disability, autosomal recessive 12 biolink:Disease mondo UMLS:C1970200|OMIM:611090|MESH:C567019 UMLS:C1970200|MESH:C567019|http://identifiers.org/omim/611090 http://purl.obolibrary.org/obo/MONDO_0012612 intellectual disability, autosomal recessive 12|mental retardation, autosomal recessive 12|mental retardation, autosomal recessive type 12|intellectual disability, autosomal recessive 12; MRT12|mental retardation, autosomal recessive 12; MRT12|MRT12|intellectual disability, autosomal recessive type 12 HGNC:11812 TRIM24 biolink:OntologyClass mondo http://identifiers.org/hgnc/11812 HGNC:11811 KLF11 biolink:OntologyClass mondo http://identifiers.org/hgnc/11811 CHEBI:16646 carbohydrate biolink:ChemicalSubstance mondo Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. http://purl.obolibrary.org/obo/CHEBI_16646 carbohidrato|glucides|hydrates de carbone|carbohidratos|carbohydrate|glucide|carbohydrates|saccharides|Kohlenhydrat|Kohlenhydrate|glucidos|glucido|saccharide|saccharidum MONDO:0012613 intellectual disability, autosomal recessive 5 biolink:Disease mondo OMIM:611091|UMLS:C1970199|MESH:C567018 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene. UMLS:C1970199|MESH:C567018|http://identifiers.org/omim/611091 http://purl.obolibrary.org/obo/MONDO_0012613 mental retardation, autosomal recessive type 5|NSUN2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 5|autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2|mental retardation, autosomal recessive 5|mental retardation, autosomal recessive 5; MRT5|intellectual disability, autosomal recessive 5; MRT5|intellectual disability, autosomal recessive 5|MRT5 MONDO:0012610 inflammatory bowel disease 10 biolink:Disease mondo DOID:0110885|UMLS:C1970207|MESH:C567021|OMIM:611081 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene. DOID:0110885|UMLS:C1970207|MESH:C567021|http://identifiers.org/omim/611081 http://purl.obolibrary.org/obo/MONDO_0012610 ATG16L1 inflammatory bowel disease|inflammatory bowel disease (Crohn disease) 10|inflammatory bowel disease 10|inflammatory bowel disease type 10|IBD10|inflammatory bowel disease 10; IBD10|inflammatory bowel disease (Crohn disease) 10; IBD10|inflammatory bowel disease caused by mutation in ATG16L1 MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy biolink:Disease mondo Orphanet:500533|MESH:C567020|OMIM:611087|GARD:0012913|UMLS:C1970203 ORPHA:500533|UMLS:C1970203|MESH:C567020|http://identifiers.org/omim/611087 http://purl.obolibrary.org/obo/MONDO_0012611 polyhydramnios-megalencephaly-symptomatic epilepsy syndrome|polyhydramnios, megalencephaly, and symptomatic epilepsy|PMSE syndrome|pretzel syndrome|PMSE|polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome|polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE ordo_disease MONDO:0000638 benign glioma biolink:Disease mondo DOID:0060101 A form of glioma without malignant characteristics. DOID:0060101 http://purl.obolibrary.org/obo/MONDO_0000638 glioma, benign MONDO:0000637 musculoskeletal system cancer biolink:Disease mondo DOID:0060100 A malignant neoplasm involving the musculoskeletal system DOID:0060100 http://purl.obolibrary.org/obo/MONDO_0000637 malignant neoplasm of musculoskeletal system|musculoskeletal system cancer|malignant musculoskeletal system neoplasm|cancer of musculoskeletal system|skeletal system cancer MONDO:0000636 musculoskeletal system benign neoplasm biolink:Disease mondo DOID:0060099 A benign neoplasm that involves the musculoskeletal system. DOID:0060099 http://purl.obolibrary.org/obo/MONDO_0000636 musculoskeletal system benign neoplasm MONDO:0000635 obsolete osteoblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000635 MONDO:0000639 cartilage cancer biolink:Disease mondo DOID:0060102|GARD:0006004 A cancer involving a cartilage tissue. DOID:0060102 http://purl.obolibrary.org/obo/MONDO_0000639 cancer of cartilage tissue|cartilage tissue cancer|malignant cartilage tissue neoplasm|malignant neoplasm of cartilage tissue|cartilaginous cancer gard_rare GO:2000849 regulation of glucocorticoid secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glucocorticoid secretion. http://purl.obolibrary.org/obo/GO_2000849 MONDO:0000612 lymphatic system cancer biolink:Disease mondo DOID:0060073 A malignant neoplasm involving the lymphatic part of lymphoid system DOID:0060073 http://purl.obolibrary.org/obo/MONDO_0000612 malignant neoplasm of lymphatic part of lymphoid system|lymphatic part of lymphoid system cancer|malignant lymphatic part of lymphoid system neoplasm|cancer of lymphatic part of lymphoid system MONDO:0000611 pre-malignant neoplasm biolink:Disease mondo DOID:0060071 A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. DOID:0060071 http://purl.obolibrary.org/obo/MONDO_0000611 MONDO:0000610 marantic endocarditis biolink:Disease mondo DOID:0060068|MESH:D059905|SCTID:57181007 Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia). DOID:0060068|SNOMEDCT:57181007|MESH:D059905 http://purl.obolibrary.org/obo/MONDO_0000610 nonbacterial thrombotic endocarditis|non-bacterial thrombotic endocarditis GO:2000846 regulation of corticosteroid hormone secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of corticosteroid hormone secretion. http://purl.obolibrary.org/obo/GO_2000846 regulation of corticosteroid secretion GO:2000847 negative regulation of corticosteroid hormone secretion biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of corticosteroid hormone secretion. http://purl.obolibrary.org/obo/GO_2000847 negative regulation of corticosteroid secretion GO:2000848 positive regulation of corticosteroid hormone secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of corticosteroid hormone secretion. http://purl.obolibrary.org/obo/GO_2000848 positive regulation of corticosteroid secretion MONDO:0012601 AUTS10 biolink:Disease mondo OMIM:611016 http://identifiers.org/omim/611016 http://purl.obolibrary.org/obo/MONDO_0012601 AUTS10|autism, susceptibility to, 10|autism, susceptibility to, 10; AUTS10 predisposition MONDO:0012602 autosomal recessive nonsyndromic deafness 24 biolink:Disease mondo MESH:C567027|ICD10:H90.3|OMIM:611022|DOID:0110482|UMLS:C1970239 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene. DOID:0110482|UMLS:C1970239|MESH:C567027|http://identifiers.org/omim/611022 http://purl.obolibrary.org/obo/MONDO_0012602 DFNB24|RDX autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 24|autosomal recessive deafness 24|deafness, autosomal recessive type 24|deafness, autosomal recessive 24; DFNB24|autosomal recessive nonsyndromic deafness caused by mutation in RDX|deafness, autosomal recessive 24 MONDO:0012600 AUTS9 biolink:Disease mondo OMIM:611015 http://identifiers.org/omim/611015 http://purl.obolibrary.org/obo/MONDO_0012600 autism, susceptibility to, 9|autism, susceptibility to, 9; AUTS9|AUTS9 predisposition MONDO:0000605 hypersensitivity reaction disease biolink:Disease mondo NCIT:C3114|SCTID:473010000|EFO:1002003|DOID:0060056 An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. DOID:0060056|SNOMEDCT:473010000|NCIT:C3114 http://purl.obolibrary.org/obo/MONDO_0000605 hypersensitive|hypersensitivity reaction|sensitive|allergic reaction|hypersensitivity|sensitivity|hypersensitivity MONDO:0000604 obsolete autonomic peripheral neuropathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000604 autonomic nervous system peripheral neuropathy MONDO:0000603 autoimmune disease of cardiovascular system biolink:Disease mondo DOID:0060051 A hypersensitivity reaction type II disease that involves the cardiovascular system. DOID:0060051 http://purl.obolibrary.org/obo/MONDO_0000603 cardiovascular system hypersensitivity reaction type II disease|cardiovascular system autoimmune disease MONDO:0000602 autoimmune disease of blood biolink:Disease mondo DOID:0060050 A hypersensitivity reaction type II disease that involves the blood. DOID:0060050 http://purl.obolibrary.org/obo/MONDO_0000602 blood autoimmune disease|blood hypersensitivity reaction type II disease CHEBI:16670 peptide biolink:ChemicalSubstance mondo Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. http://purl.obolibrary.org/obo/CHEBI_16670 peptido|peptidos|peptides|Peptide|Peptid CHEBI:41609 carbonate biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_41609 Karbonat|[CO3](2-)|trioxidocarbonate(2-)|CO3(2-)|CARBONATE ION|carbonate MONDO:0000609 obsolete sideroblastic anemia with spinocerebellar ataxia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000609 MONDO:0000608 familial juvenile hyperuricemic nephropathy biolink:Disease mondo UMLS:CN239392|OMIMPS:162000|GARD:0000067|SCTID:46785007|MESH:C537696|DOID:0060062 UMLS:CN239392|MESH:C537696|SNOMEDCT:46785007|DOID:0060062 http://purl.obolibrary.org/obo/MONDO_0000608 juvenile gout|FJHN|familial juvenile hyperuricemic nephropathy|nephropathy, familial, with gout|familial nephropathy associated with hyperuricemia|gouty nephropathy, familial juvenile|familial juvenile gouty nephropathy|juvenile gouty nephropathy|gouty nephropathy, familial|familial nephropathy with gout gard_rare MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma biolink:Disease mondo NCIT:C3467|MESH:D016410|EFO:0002913|DOID:0060061|ICDO:9709/3 A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. NCIT:C3467|DOID:0060061|MESH:D016410 http://purl.obolibrary.org/obo/MONDO_0000607 skin T-cell non-Hodgkin's lymphoma|PCTCL|CTCL|primary cutaneous T-cell non-Hodgkin's lymphoma|cutaneous T-cell non-Hodgkin's lymphoma|cutaneous T-cell lymphoma|T-cell non-Hodgkin's lymphoma of skin|cutaneous T cell lymphoma|primary cutaneous T-cell non-Hodgkin lymphoma|T-cell non-Hodgkin's lymphoma of the skin|cutaneous T-cell non-Hodgkin lymphoma MONDO:0000606 gluten allergy biolink:Disease mondo DOID:0060057 A allergy involving gluten. DOID:0060057 http://purl.obolibrary.org/obo/MONDO_0000606 gluten allergic disease|allergy of gluten|gluten allergic reaction|allergy to gluten MONDO:0000623 obsolete organ system benign neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000623 MONDO:0000622 obsolete cell type benign neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000622 MONDO:0000621 immune system cancer biolink:Disease mondo DOID:0060083 A malignant neoplasm involving the immune system DOID:0060083 http://purl.obolibrary.org/obo/MONDO_0000621 cancer of immune system|immune system cancer|malignant immune system neoplasm|malignant neoplasm of immune system MONDO:0000620 breast benign neoplasm biolink:Disease mondo ICD9:217|NCIT:C4505|DOID:0060082|SCTID:269485000|COHD:72576 A non-metastasizing neoplasm arising from the breast parenchyma. DOID:0060082|SNOMEDCT:269485000|NCIT:C4505 http://purl.obolibrary.org/obo/MONDO_0000620 benign tumor of breast|benign tumor of the breast|benign neoplasm of breast|benign neoplasm of the breast|benign breast tumor|breast benign neoplasm|benign breast neoplasm GO:2000855 regulation of mineralocorticoid secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of mineralocorticoid secretion. http://purl.obolibrary.org/obo/GO_2000855 GO:2000856 negative regulation of mineralocorticoid secretion biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of mineralocorticoid secretion. http://purl.obolibrary.org/obo/GO_2000856 GO:2000857 positive regulation of mineralocorticoid secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of mineralocorticoid secretion. http://purl.obolibrary.org/obo/GO_2000857 GO:2000858 regulation of aldosterone secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of aldosterone secretion. http://purl.obolibrary.org/obo/GO_2000858 GO:2000859 negative regulation of aldosterone secretion biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of aldosterone secretion. http://purl.obolibrary.org/obo/GO_2000859 HGNC:4166 GAS8 biolink:OntologyClass mondo http://identifiers.org/hgnc/4166 HGNC:4162 GARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4162 GO:2000850 negative regulation of glucocorticoid secretion biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion. http://purl.obolibrary.org/obo/GO_2000850 GO:2000851 positive regulation of glucocorticoid secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion. http://purl.obolibrary.org/obo/GO_2000851 MONDO:0000616 progesterone-receptor negative breast cancer biolink:Disease mondo DOID:0060078 DOID:0060078 http://purl.obolibrary.org/obo/MONDO_0000616 MONDO:0000615 progesterone-receptor positive breast cancer biolink:Disease mondo DOID:0060077 DOID:0060077 http://purl.obolibrary.org/obo/MONDO_0000615 MONDO:0000614 obsolete estrogen-receptor negative breast cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000614 MONDO:0000613 obsolete estrogen-receptor positive breast cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000613 MONDO:0000619 obsolete triple-receptor negative breast cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000619 NCBITaxon:2 Bacteria organism taxon mondo PMID:10425795|PMID:8123559|PMID:11411719|GC_ID:11|PMID:11540071|PMID:11321083|PMID:9336922|PMID:9103655|PMID:11760965|PMID:10939677|PMID:8186100|PMID:8590690|PMID:12054223|PMID:7520741|PMID:10843050|PMID:2112744|PMID:11542017|PMID:11211268|PMID:10939673|PMID:10939651|PMID:11321113|PMID:10490293|PMID:10425797|PMID:10425796|PMID:11542087|PMID:270744 http://purl.obolibrary.org/obo/NCBITaxon_2 Prokaryotae|Prokaryota|prokaryotes|bacteria|Procaryotae|eubacteria|Monera|prokaryote|not Bacteria Haeckel 1894 MONDO:0000618 Her2-receptor negative breast cancer biolink:Disease mondo DOID:0060080 DOID:0060080 http://purl.obolibrary.org/obo/MONDO_0000618 MONDO:0000617 obsolete Her2-receptor positive breast cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000617 NCBITaxon:1 root organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1 all GO:0002225 positive regulation of antimicrobial peptide production biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production. http://purl.obolibrary.org/obo/GO_0002225 up-regulation of antimicrobial peptide production|activation of antimicrobial peptide production|antimicrobial peptide induction|upregulation of antimicrobial peptide production|up regulation of antimicrobial peptide production|stimulation of antimicrobial peptide production GO:0004888 transmembrane signaling receptor activity biolink:OntologyClass mondo Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. http://purl.obolibrary.org/obo/GO_0004888 transmembrane signalling receptor activity|transmembrane receptor activity GO:0004887 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0004887 GO:0002228 natural killer cell mediated immunity biolink:OntologyClass mondo The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. http://purl.obolibrary.org/obo/GO_0002228 NK cell mediated immunity GO:0004882 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0004882 GO:0016866 intramolecular transferase activity biolink:OntologyClass mondo Catalysis of the transfer of a functional group from one position to another within a single molecule. http://purl.obolibrary.org/obo/GO_0016866 mutase activity|intramolecular transferase activity, transferring other groups GO:0016868 intramolecular transferase activity, phosphotransferases biolink:OntologyClass mondo Catalysis of the transfer of a phosphate group from one position to another within a single molecule. http://purl.obolibrary.org/obo/GO_0016868 phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers|phosphomutase activity GO:0016860 intramolecular oxidoreductase activity biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears. http://purl.obolibrary.org/obo/GO_0016860 intramolecular isomerase activity|intramolecular oxidoreductase activity, other intramolecular oxidoreductases GO:0016861 intramolecular oxidoreductase activity, interconverting aldoses and ketoses biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears. http://purl.obolibrary.org/obo/GO_0016861 intramolecular isomerase activity, interconverting aldoses and ketoses GO:0002232 leukocyte chemotaxis involved in inflammatory response biolink:OntologyClass mondo The movement of an immune cell in response to an external stimulus contributing to an inflammatory response. http://purl.obolibrary.org/obo/GO_0002232 leukocyte chemotaxis during inflammatory response|immune cell chemotaxis during inflammatory response|leucocyte chemotaxis during inflammatory response GO:0002233 leukocyte chemotaxis involved in immune response biolink:OntologyClass mondo The movement of an immune cell in response to an external stimulus a part of an immune response. http://purl.obolibrary.org/obo/GO_0002233 immune cell chemotaxis during immune response|leucocyte chemotaxis during immune response GO:0004896 cytokine receptor activity biolink:OntologyClass mondo Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. http://purl.obolibrary.org/obo/GO_0004896 IL receptor|interleukin receptor activity|hematopoietin/interferon-class (D200-domain) cytokine receptor activity GO:0016879 ligase activity, forming carbon-nitrogen bonds biolink:OntologyClass mondo Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. http://purl.obolibrary.org/obo/GO_0016879 other carbon-nitrogen ligase activity GO:0016874 ligase activity biolink:OntologyClass mondo Catalysis of the joining of two molecules, or two groups within a single molecule, using the energy from the hydrolysis of ATP, a similar triphosphate, or a pH gradient. http://purl.obolibrary.org/obo/GO_0016874 synthetase activity GO:0002204 somatic recombination of immunoglobulin genes involved in immune response biolink:OntologyClass mondo The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. http://purl.obolibrary.org/obo/GO_0002204 somatic recombination of immunoglobulin genes during immune response|somatic recombination of antibody genes during immune response ENVO:01001307 partially_surrounded_by biolink:OntologyClass mondo x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies a non-trivial proportion of the outermost boundary of x http://purl.obolibrary.org/obo/ENVO_01001307 GO:0002200 somatic diversification of immune receptors biolink:OntologyClass mondo The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. http://purl.obolibrary.org/obo/GO_0002200 ENVO:01001309 liquid air-water interface layer biolink:OntologyClass mondo A liquid surface layer which is in contact with air. http://purl.obolibrary.org/obo/ENVO_01001309 ENVO:01001308 hydroform biolink:OntologyClass mondo A geographic feature which is primarily composed of a continuous volume of liquid water held in shape or sustained by an environmental process. http://purl.obolibrary.org/obo/ENVO_01001308 GO:0016840 carbon-nitrogen lyase activity biolink:OntologyClass mondo Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99). http://purl.obolibrary.org/obo/GO_0016840 other carbon-nitrogen lyase activity GO:0016842 amidine-lyase activity biolink:OntologyClass mondo Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate. http://purl.obolibrary.org/obo/GO_0016842 GO:0002208 somatic diversification of immunoglobulins involved in immune response biolink:OntologyClass mondo The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. http://purl.obolibrary.org/obo/GO_0002208 somatic diversification of antibodies during immune response|somatic diversification of immunoglobulins during immune response GO:0004879 nuclear receptor activity biolink:OntologyClass mondo A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. http://purl.obolibrary.org/obo/GO_0004879 ligand-dependent transcription factor activity|calcitriol receptor activity|vitamin A receptor activity|9-cis retinoic acid receptor activity|estrogen nuclear receptor activity|juvenile hormone receptor activity|thyroid hormone receptor activity|nuclear hormone receptor|retinoid-X receptor activity|RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding|vitamin D3 receptor activity|ecdysteroid hormone receptor activity|androgen receptor activity|nuclear receptor activity|ligand-dependent nuclear receptor activity|retinoic acid receptor activity|1,25-(OH)2D3 receptor activity|RXR|RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding|RNA polymerase II transcription factor activity, glucocorticoid-activated sequence-specific DNA binding|vitamin D receptor activity|glucocorticoid receptor activity|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity GO:0004872 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0004872 GO:0004875 complement receptor activity biolink:OntologyClass mondo Combining with any component or product of the complement cascade and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. http://purl.obolibrary.org/obo/GO_0004875 anaphylatoxin receptor activity CL:0011115 precursor cell biolink:Cell mondo A cell that, by division or terminal differentiation, can give rise to other cell types. http://purl.obolibrary.org/obo/CL_0011115 GO:0004871 obsolete signal transducer activity biolink:OntologyClass mondo OBSOLETE. Conveys a signal across a cell to trigger a change in cell function or state. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/GO_0004871 hematopoietin/interferon-class (D200-domain) cytokine receptor signal transducer activity|quorum sensing signal generator activity|quorum sensing response regulator activity HGNC:6700 LRP8 biolink:OntologyClass mondo http://identifiers.org/hgnc/6700 HGNC:6701 LRPAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6701 GO:0016853 isomerase activity biolink:OntologyClass mondo Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. http://purl.obolibrary.org/obo/GO_0016853 other isomerase activity GO:0016854 racemase and epimerase activity biolink:OntologyClass mondo Catalysis of a reaction that alters the configuration of one or more chiral centers in a molecule. http://purl.obolibrary.org/obo/GO_0016854 racemase and epimerase activity, acting on other compounds HGNC:6708 LSS biolink:OntologyClass mondo http://identifiers.org/hgnc/6708 GO:0016826 hydrolase activity, acting on acid sulfur-nitrogen bonds biolink:OntologyClass mondo Catalysis of the hydrolysis of any acid sulfur-nitrogen bond. http://purl.obolibrary.org/obo/GO_0016826 hydrolase activity, acting on acid sulphur-nitrogen bonds HGNC:6709 LTA biolink:OntologyClass mondo http://identifiers.org/hgnc/6709 GO:0016829 lyase activity biolink:OntologyClass mondo Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. http://purl.obolibrary.org/obo/GO_0016829 other lyase activity MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy biolink:Disease mondo Orphanet:544254 ORPHA:544254 http://purl.obolibrary.org/obo/MONDO_0034099 ordo_disease GO:0016825 hydrolase activity, acting on acid phosphorus-nitrogen bonds biolink:OntologyClass mondo Catalysis of the hydrolysis of any acid phosphorus-nitrogen bond. http://purl.obolibrary.org/obo/GO_0016825 MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome biolink:Disease mondo Orphanet:543470 ORPHA:543470 http://purl.obolibrary.org/obo/MONDO_0034092 ordo_disease HGNC:6715 LTBP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6715 NCBITaxon:51291 Chlamydiales organism taxon mondo PMID:16079343|PMID:10319462|PMID:26179278|PMID:11211265|PMID:25634949|GC_ID:11|PMID:10826799 http://purl.obolibrary.org/obo/NCBITaxon_51291 chlamydias HGNC:6716 LTBP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6716 HGNC:6717 LTBP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6717 HGNC:6719 LTC4S biolink:OntologyClass mondo http://identifiers.org/hgnc/6719 GO:0016835 carbon-oxygen lyase activity biolink:OntologyClass mondo Catalysis of the breakage of a carbon-oxygen bond. http://purl.obolibrary.org/obo/GO_0016835 other carbon-oxygen lyase activity GO:0016836 hydro-lyase activity biolink:OntologyClass mondo Catalysis of the cleavage of a carbon-oxygen bond by elimination of water. http://purl.obolibrary.org/obo/GO_0016836 GO:0016830 carbon-carbon lyase activity biolink:OntologyClass mondo Catalysis of the cleavage of C-C bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. http://purl.obolibrary.org/obo/GO_0016830 other carbon-carbon lyase activity GO:0016831 carboxy-lyase activity biolink:OntologyClass mondo Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound. http://purl.obolibrary.org/obo/GO_0016831 decarboxylase activity GO:0016832 aldehyde-lyase activity biolink:OntologyClass mondo Catalysis of the cleavage of a C-C bond in a molecule containing a hydroxyl group and a carbonyl group to form two smaller molecules, each being an aldehyde or a ketone. http://purl.obolibrary.org/obo/GO_0016832 aldolase activity GO:0051216 cartilage development biolink:OntologyClass mondo The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. http://purl.obolibrary.org/obo/GO_0051216 chondrogenesis|cartilage organ development|cartilage biogenesis|cartilage element development|cartilage biosynthesis|cartilage formation UBERON:0008522 nasal muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of an nose. http://purl.obolibrary.org/obo/UBERON_0008522 muscle of nose GO:0051223 regulation of protein transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051223 GO:0051224 negative regulation of protein transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051224 inhibition of protein transport|downregulation of protein transport|down-regulation of protein transport|down regulation of protein transport HGNC:6741 LZTFL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6741 GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides biolink:OntologyClass mondo Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide. http://purl.obolibrary.org/obo/GO_0016811 HGNC:6742 LZTR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6742 GO:0016812 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides biolink:OntologyClass mondo Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amide. http://purl.obolibrary.org/obo/GO_0016812 GO:0016814 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines biolink:OntologyClass mondo Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amidine, a compound of the form R-C(=NH)-NH2. http://purl.obolibrary.org/obo/GO_0016814 GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds biolink:OntologyClass mondo Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds. http://purl.obolibrary.org/obo/GO_0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in other compounds GO:0051222 positive regulation of protein transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051222 up-regulation of protein transport|up regulation of protein transport|activation of protein transport|stimulation of protein transport|upregulation of protein transport HGNC:6740 LYZ biolink:OntologyClass mondo http://identifiers.org/hgnc/6740 MONDO:0022067 Cantu sanchez-corona fragoso syndrome biolink:Disease mondo MESH:C535571|UMLS:C2930937|GARD:0001081 UMLS:C2930937|MESH:C535571 http://purl.obolibrary.org/obo/MONDO_0022067 severe mental deficiency, proportionate dwarfism, and delayed sexual maturation|severe mental deficiency proportionate dwarfism and delayed sexual maturation gard_rare HP:0011376 Morphological abnormality of the vestibule of the inner ear biolink:PhenotypicFeature mondo UMLS:C0542259 A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. http://purl.obolibrary.org/obo/HP_0011376 Vestibular abnormality ENVO:01001367 primary aerosol formation process biolink:OntologyClass mondo A material transport process during which solid or liquid particles are directly introduced into a volume of gas. http://purl.obolibrary.org/obo/ENVO_01001367 primary aerosol formation ENVO:01001366 aerosolised particle formation process biolink:OntologyClass mondo A process during which particles suspended in a gaseous medium are formed. http://purl.obolibrary.org/obo/ENVO_01001366 new particle formation process MONDO:0022060 calloso-genital dysplasia biolink:Disease mondo UMLS:C2931677|MESH:C537962|GARD:0001055 UMLS:C2931677|MESH:C537962 http://purl.obolibrary.org/obo/MONDO_0022060 primary amenorrhoea with coloboma and total agenesis of the corpus callosum gard_rare MONDO:0009089 deafness-oligodontia syndrome biolink:Disease mondo MESH:C538049|GARD:0001698|UMLS:C1857333|Orphanet:3230|OMIM:221740 Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. UMLS:C1857333|http://identifiers.org/omim/221740|ORPHA:3230|MESH:C538049 http://purl.obolibrary.org/obo/MONDO_0009089 deafness oligodontia syndrome|deafness-oligodontia syndrome|autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia|congenital profound sensorineural deafness and oligodontia ordo_malformation_syndrome|gard_rare MONDO:0010088 mucosulfatidosis biolink:Disease mondo Orphanet:585|OMIM:272200|NCIT:C84908|UMLS:C0268263|SCTID:54898003|MESH:D052517|ICD10:E75.2|GARD:0005061|DOID:0050441 Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. MESH:D052517|UMLS:C1720864|SNOMEDCT:54898003|UMLS:C0268263|NCIT:C84908|DOID:0050441|ORPHA:585|http://identifiers.org/omim/272200 http://purl.obolibrary.org/obo/MONDO_0010088 sulfatidosis juvenile, Austin type|mucosulfatidosis|juvenile sulfatidosis, Austin type|multiple sulfatase deficiency; MSD|sulfatidosis, juvenile, Austin type|multiple sulfatase deficiency disease|multiple sulfatase deficiency|juvenile sulfatidosis|MSD ordo_disease MONDO:0009088 deafness, neural, with atypical atopic dermatitis biolink:Disease mondo UMLS:C1857334|MESH:C565639|OMIM:221700 MESH:C565639|UMLS:C1857334|http://identifiers.org/omim/221700 http://purl.obolibrary.org/obo/MONDO_0009088 deafness, neural, with atypical atopic dermatitis NCBITaxon:28901 Salmonella enterica organism taxon mondo PMID:10319519|PMID:15653929|GC_ID:11|PMID:10939679|PMID:15653930 http://purl.obolibrary.org/obo/NCBITaxon_28901 Salmonella cholerae-suis|Bacillus cholerae-suis|Salmonella enterica ser. choleraesuis|Salmonella choleraesuis MONDO:0010087 Sugarman brachydactyly biolink:Disease mondo GARD:0005058|OMIM:272150|Orphanet:498602|DOID:0110979 Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. DOID:0110979|ORPHA:498602|http://identifiers.org/omim/272150 http://purl.obolibrary.org/obo/MONDO_0010087 brachydactyly with Major proximal phalangeal shortening|Sugarman brachydactyly|brachydactyly of the hands and feet with duplication of the first toes|Sugarman-Hager-Kulik syndrome|brachydactyly with major proximal phalangeal shortening gard_rare|ordo_morphological_anomaly MONDO:0009087 deafness, neural, congenital moderate biolink:Disease mondo UMLS:C1857337|MESH:C565640|OMIM:221500 MESH:C565640|http://identifiers.org/omim/221500|UMLS:C1857337 http://purl.obolibrary.org/obo/MONDO_0009087 deafness, neural, congenital moderate MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency biolink:Disease mondo Orphanet:538958|OMIM:618261 http://identifiers.org/omim/618261|ORPHA:538958 http://purl.obolibrary.org/obo/MONDO_0034054 ordo_disease MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome biolink:Disease mondo MESH:C537305|GARD:0002568|OMIM:221400|Orphanet:3217|SCTID:733071009|UMLS:C1857338 Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). ORPHA:3217|http://identifiers.org/omim/221400|SNOMEDCT:733071009|UMLS:C1857338|MESH:C537305 http://purl.obolibrary.org/obo/MONDO_0009086 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll-Hirschowitz syndrome|nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll Hirschowitz syndrome ordo_disease MONDO:0010089 isolated sulfite oxidase deficiency biolink:Disease mondo OMIM:272300|ICD10:E72.1|SCTID:367368009|MESH:C538141|GARD:0005062|Orphanet:99731 SNOMEDCT:367368009|MESH:C538141|ORPHA:99731|http://identifiers.org/omim/272300 http://purl.obolibrary.org/obo/MONDO_0010089 ISOD|sulfocysteinuria|Sulfocysteinuria|sulfite oxidase deficiency, isolated; ISOD|sulfite oxidase deficiency|sulfite oxidase deficiency, isolated ordo_clinical_subtype MONDO:0009085 deafness-vitiligo-achalasia syndrome biolink:Disease mondo MESH:C565642|OMIM:221350|UMLS:C1857339|ICD10:Q87.8|Orphanet:3239|GARD:0001705 Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. MESH:C565642|ORPHA:3239|http://identifiers.org/omim/221350|UMLS:C1857339 http://purl.obolibrary.org/obo/MONDO_0009085 deafness vitiligo achalasia|deafness, congenital, with vitiligo and achalasia|congenital deafness with vitiligo and achalasia ordo_malformation_syndrome|gard_rare MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome biolink:Disease mondo SCTID:763213001|GARD:0000305|UMLS:C1857340|OMIM:221320|Orphanet:3236|MESH:C535993 Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. SNOMEDCT:763213001|MESH:C535993|ORPHA:3236|http://identifiers.org/omim/221320|UMLS:C1857340 http://purl.obolibrary.org/obo/MONDO_0009084 Jackson Barr syndrome|Jackson-Barr syndrome|deafness, conductive, with ptosis and skeletal anomalies|deafness conductive ptosis skeletal anomalies ordo_malformation_syndrome MONDO:0009083 conductive deafness-malformed external ear syndrome biolink:Disease mondo UMLS:C1857341|OMIM:221300|Orphanet:3216|GARD:0001460|MESH:C565644 MESH:C565644|ORPHA:3216|http://identifiers.org/omim/221300|UMLS:C1857341 http://purl.obolibrary.org/obo/MONDO_0009083 Mengel-Konigsmark syndrome|Ear deformity and conductive hearing loss|conductive deafness - malformed external ear|familial congenital moderate neural hearing loss|deafness, conductive, with malformed external EAR|conductive deafness with malformed external ear|conductive hearing loss and malformed low-set ears|conductive hearing loss-malformed external ear syndrome ordo_malformation_syndrome MONDO:0009082 high myopia-sensorineural deafness syndrome biolink:Disease mondo UMLS:CN204687|GARD:0012844|SCTID:720506002|ICD10:H90.5|OMIM:221200|Orphanet:363396 High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. SNOMEDCT:720506002|UMLS:CN204687|http://identifiers.org/omim/221200|ORPHA:363396 http://purl.obolibrary.org/obo/MONDO_0009082 deafness and myopia|deafness and myopia syndrome|DFNMYP|deafness and myopia; DFNMYP ordo_disease MONDO:0009081 deafness, congenital, with total albinism biolink:Disease mondo OMIM:220900|UMLS:C1857343|MESH:C565646 MESH:C565646|UMLS:C1857343|http://identifiers.org/omim/220900 http://purl.obolibrary.org/obo/MONDO_0009081 deafness, congenital, with total albinism MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss biolink:Disease mondo Orphanet:71271|UMLS:C1857344|SCTID:723611008|MESH:C565647|DOID:0090024|ICD10:Q87.2|OMIM:220600 Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. ORPHA:71271|DOID:0090024|MESH:C565647|UMLS:C1857344|http://identifiers.org/omim/220600|SNOMEDCT:723611008 http://purl.obolibrary.org/obo/MONDO_0009080 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive|deafness, congenital, with split hands and feet|congenital deafness with split hands and feet|split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive; SHFM1D|split hand-split foot-deafness syndrome|SHFM1D ordo_malformation_syndrome MONDO:0010080 familial infantile bilateral striatal necrosis biolink:Disease mondo Orphanet:225154|ICD10:G23.2|UMLS:CN201303|OMIM:271930|GARD:0010665 Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. UMLS:CN201303|ORPHA:225154|http://identifiers.org/omim/271930 http://purl.obolibrary.org/obo/MONDO_0010080 familial infantile striatonigral necrosis|infantile bilateral striatal necrosis|bilateral striatal Necrosis, infantile|FBSN|SNDI|striatonigral degeneration, infantile; SNDI|hereditary infantile bilateral striatal necrosis|familial bilateral striatal necrosis|striatal degeneration, familial|familial infantile striatonigral degeneration|striatonigral degeneration, infantile|familial IBSN gard_rare|ordo_clinical_subtype MONDO:0010082 subaortic stenosis-short stature syndrome biolink:Disease mondo GARD:0000405|Orphanet:3191|MESH:C537749|UMLS:C0795947|OMIM:271960 ORPHA:3191|UMLS:C0795947|MESH:C537749|http://identifiers.org/omim/271960 http://purl.obolibrary.org/obo/MONDO_0010082 subaortic stenosis short stature syndrome|Onat syndrome|subaortic stenosis--short stature syndrome ordo_malformation_syndrome|gard_rare MONDO:0010081 subaortic stenosis, membranous biolink:Disease mondo MESH:C564793|OMIM:271950 MESH:C564793|http://identifiers.org/omim/271950 http://purl.obolibrary.org/obo/MONDO_0010081 subaortic stenosis, membranous MONDO:0010084 sucrosuria, hiatus hernia and mental retardation biolink:Disease mondo OMIM:272000|MESH:C564792|UMLS:C1848963 UMLS:C1848963|http://identifiers.org/omim/272000|MESH:C564792 http://purl.obolibrary.org/obo/MONDO_0010084 sucrosuria, hiatus hernia and mental retardation|sucrosuria, hiatus hernia and intellectual disability MONDO:0010083 succinic semialdehyde dehydrogenase deficiency biolink:Disease mondo GARD:0007695|MESH:C535803|Orphanet:22|SCTID:49748000|ICD10:E72.8|OMIM:271980|DOID:0060175|UMLS:C0268631 Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. ORPHA:22|UMLS:C0268631|SNOMEDCT:49748000|DOID:0060175|MESH:C535803|http://identifiers.org/omim/271980 http://purl.obolibrary.org/obo/MONDO_0010083 4-hydroxybutyric aciduria|GABA metabolic defect|Ssadh deficiency|SSADH deficiency|succinic semialdehyde dehydrogenase deficiency; SSADHD|SSADH|SSADHD|gamma-hydroxybutyric aciduria|succinic semialdehyde dehydrogenase deficiency|gamma-hydroxybutyricaciduria gard_rare|ordo_disease MONDO:0010086 sudden infant death syndrome biolink:Disease mondo NCIT:C85173|ICD10:R95|COHD:435937|MESH:D013398|UMLS:C0038644|SCTID:51178009|DOID:9007|EFO:0005303|OMIM:272120|GARD:0007711|ICD9:798.0|MedDRA:10042439 Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource. MESH:D013398|SNOMEDCT:51178009|UMLS:C0038644|http://identifiers.org/omim/272120|NCIT:C85173|DOID:9007 http://purl.obolibrary.org/obo/MONDO_0010086 sudden infant death syndrome|sudden infant death syndrome (finding)|cot death (context-dependent category)|Crib death (context-dependent category)|Sids|crib death|sudden death of nonspecific cause in infancy|sudden infant death syndrome (context-dependent category)|SIDS|sudden infant death syndrome NOS (context-dependent category)|cot death gard_rare MONDO:0010085 Schilder disease biolink:Disease mondo OMIM:272100|ICD9:341.1|Orphanet:59298|SCTID:49692006|UMLS:C0007795|ICD10:G37.0 Schilder's disease is a progressive demyelinating disorder of the central nervous system. SNOMEDCT:49692006|ORPHA:59298|http://identifiers.org/omim/272100|UMLS:C0007795 http://purl.obolibrary.org/obo/MONDO_0010085 Schilder disease|Schilder's disease|SUDANOPHILIC cerebral sclerosis|Myelinoclastic diffuse sclerosis ordo_disease HP:0011362 Abnormal hair quantity biolink:PhenotypicFeature mondo UMLS:C4023401|UMLS:C4023397 An abnormal amount of hair. http://purl.obolibrary.org/obo/HP_0011362 Abnormality of hair density|Abnormal hair quantity MONDO:0022055 Calabro syndrome biolink:Disease mondo MESH:C537960|UMLS:C0796276|GARD:0008584 UMLS:C0796276|MESH:C537960 http://purl.obolibrary.org/obo/MONDO_0022055 craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects gard_rare MONDO:0022057 calcifying epithelial odontogenic tumor biolink:Disease mondo MESH:C537961|UMLS:C0334574|GARD:0006256|NCIT:C54301|ICDO:9340/0 A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases. NCIT:C54301|UMLS:C0334574|MESH:C537961 http://purl.obolibrary.org/obo/MONDO_0022057 CEOT|calcifying epithelial odontogenic tumor|Pindborg tumor gard_rare HP:0011368 Epidermal thickening biolink:PhenotypicFeature mondo UMLS:C4020752|UMLS:C0494876 Thickening of the epidermal layer of the skin. http://purl.obolibrary.org/obo/HP_0011368 Abnormality of keratinization ENVO:01001357 desert biolink:OntologyClass mondo A landform which has been rendered barren or partially barren by environmental extremes, especially by low rainfall. http://purl.obolibrary.org/obo/ENVO_01001357 MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome biolink:Disease mondo UMLS:C1849011|ICD10:Q77.7|GARD:0010616|Orphanet:93358|MESH:C564794|OMIM:271665 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. UMLS:C1849011|MESH:C564794|http://identifiers.org/omim/271665|ORPHA:93358 http://purl.obolibrary.org/obo/MONDO_0010077 spondyloepimetaphyseal dysplasia - short limb - abnormal calcification|Smed, short limb-hand type|Smed, short limb-abnormal calcification type|SMED short limb-hand type|Smed-SL|Smed short limb-abnormal calcification type|spondylometaepiphyseal dysplasia short limb-hand type|Smed, type 2|spondylometaepiphyseal dysplasia short limb-abnormal calcification type|SMED type 2|spondylometaepiphyseal dysplasia, short limb-hand type|Smed-SL/Ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type ordo_disease MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome biolink:Disease mondo OMIM:221995|Orphanet:3145|SCTID:716200002|ICD10:N21.5|GARD:0000259 This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. SNOMEDCT:716200002|ORPHA:3145|http://identifiers.org/omim/221995 http://purl.obolibrary.org/obo/MONDO_0009099 diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification|diabetes insipidus nephrogenic intellectual disability and intracerebral calcification|diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification|diabetes insipidus nephrogenic mental retardation and intracerebral calcification|Schofer-Beetz-Bohl syndrome|Schofer Beetz Bohl syndrome ordo_disease|gard_rare MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type biolink:Disease mondo UMLS:C0432213|MESH:C562958|OMIM:271650|SCTID:717330004|ICD10:Q77.7|Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. http://identifiers.org/omim/271650|ORPHA:93351|MESH:C562958|SNOMEDCT:717330004|UMLS:C0432213 http://purl.obolibrary.org/obo/MONDO_0010076 spondyloepimetaphyseal dysplasia, Irapa type|SEMDIT|spondyloepimetaphyseal dysplasia, Irapa type; SEMDIT|SEMD, Irapa type ordo_disease MONDO:0009098 dextrocardia with unusual facies and microphthalmia biolink:Disease mondo GARD:0000136|MESH:C538269|UMLS:C1857298|OMIM:221950 MESH:C538269|UMLS:C1857298|http://identifiers.org/omim/221950 http://purl.obolibrary.org/obo/MONDO_0009098 Aughton syndrome|dextrocardia with unusual facies and microphthalmia|dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation|dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability gard_rare MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive biolink:Disease mondo Orphanet:300337|OMIM:221900|UMLS:C1969783 Autosomal recessive form of persistent hyperplastic primary vitreous. ORPHA:300337|UMLS:C1969783|http://identifiers.org/omim/221900 http://purl.obolibrary.org/obo/MONDO_0009097 retinal nonattachment, nonsyndromic congenital|retinal nonattachment and falciform detachment|autosomal recessive persistent hyperplastic primary vitreous|persistent fetal vasculature|persistent hyperplastic primary vitreous, autosomal recessive; PHPVAR|persistent hyperplastic primary vitreous, autosomal recessive|PHPVAR MONDO:0010079 Canavan disease biolink:Disease mondo MedDRA:10067608|GARD:0005984|OMIM:271900|SCTID:80544005|ICD10:E75.2|NCIT:C84611|UMLS:C0206307|DOID:3613|Orphanet:141|MESH:D017825 Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. DOID:3613|http://identifiers.org/omim/271900|NCIT:C84611|MESH:D017825|MEDDRA:10067608|SNOMEDCT:80544005|ORPHA:141|UMLS:C0206307 http://purl.obolibrary.org/obo/MONDO_0010079 Aspa deficiency|aminoacylase 2 deficiency|Canavan disease|aspartoacylase deficiency|spongy degeneration of the brain|Von Bogaert-Bertrand disease|spongy degeneration of the central nervous system|Acy2 deficiency|spongy degeneration of central nervous system|ACY2 deficiency|Canavan-VAN Bogaert-Bertrand disease|spongy Degeneration of central nervous system|Canavan-Van Bogaert-Bertrand disease|Asp deficiency ordo_disease|gard_rare MONDO:0009096 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia biolink:Disease mondo MESH:C580150|OMIM:221820|UMLS:C3711381|Orphanet:313808|GARD:0010981|ICD9:323.81|NCIT:C153289|SCTID:702427005|ICD10:E75.2 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. UMLS:C3711381|SNOMEDCT:702427005|MESH:C580150|ORPHA:313808|NCIT:C153289|http://identifiers.org/omim/221820 http://purl.obolibrary.org/obo/MONDO_0009096 ALSP|pigmentary orthochromatic leukodystrophy|subcortical gliosis of Neumann|POLD|leukoencephalopathy, hereditary diffuse, with spheroids|adult-onset leukodystrophy with neuroaxonal spheroids|hereditary diffuse leukoencephalopathy with spheroids|leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia|neuroaxonal leukodystrophy|familial dementia, Neumann type|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|dementia, familial, Neumann type|FPSG|leukoencephalopathy, hereditary diffuse, with spheroids; HDLS|familial progressive subcortical gliosis|gliosis, familial progressive subcortical|leukoencephalopathy, diffuse hereditary, with spheroids|hereditary diffuse leukoencephalopathy with axonal spheroids|HDLS|autosomal dominant leukoencephalopathy with neuroaxonal spheroids|leukoencephalopathy, diffuse hereditary, with spheroids; HDLS|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|GPSC ordo_disease MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome biolink:Disease mondo ICD9:758.89|GARD:0004994|ICD10:Q77.7|MESH:C535799|UMLS:C0796173|Orphanet:1856|OMIM:271700|SCTID:702339001|NCIT:C135088 An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia. MESH:C535799|http://identifiers.org/omim/271700|NCIT:C135088|UMLS:C0796173|SNOMEDCT:702339001|ORPHA:1856 http://purl.obolibrary.org/obo/MONDO_0010078 spondyloperipheral dysplasia with short ulna|spondyloperipheral dysplasia ordo_disease MONDO:0009095 dermatoosteolysis, Kirghizian type biolink:Disease mondo OMIM:221810|MESH:C535373|UMLS:C1857301|GARD:0001814|Orphanet:1657|SCTID:721090002 Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive. MESH:C535373|UMLS:C1857301|http://identifiers.org/omim/221810|SNOMEDCT:721090002|ORPHA:1657 http://purl.obolibrary.org/obo/MONDO_0009095 autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia|Kirghizian Dermatoosteolysis|dermatoosteolysis, Kirghizian type|Dermatoosteolysis Kirghizian type gard_rare|ordo_malformation_syndrome MONDO:0009094 dermochondrocorneal dystrophy biolink:Disease mondo ICD9:379.99|UMLS:C0432288|OMIM:221800|Orphanet:79149|SCTID:254150007|MESH:C535375|GARD:0001815 Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive. MESH:C535375|UMLS:C0432288|ORPHA:79149|SNOMEDCT:254150007|http://identifiers.org/omim/221800 http://purl.obolibrary.org/obo/MONDO_0009094 François syndrome|FranC'ois syndrome|DCCD|Francois syndrome|Dermochondrocorneal dystrophy of François|dermochondrocorneal dystrophy ordo_disease MONDO:0009093 dermatoleukodystrophy biolink:Disease mondo MESH:C538220|UMLS:C1857314|GARD:0001813|OMIM:221790|ICD10:E75.2|Orphanet:1659|SCTID:733044009 Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. SNOMEDCT:733044009|MESH:C538220|http://identifiers.org/omim/221790|UMLS:C1857314|ORPHA:1659 http://purl.obolibrary.org/obo/MONDO_0009093 Dermatoleukodystrophy ordo_disease|gard_rare MONDO:0009092 Nasu-Hakola disease biolink:Disease mondo ICD9:758.89|GARD:9921|GARD:0009921|SCTID:702347001|Orphanet:2770|ICD10:E75.2|DOID:0090112|UMLS:C1857316|OMIMPS:221770 Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. DOID:0090112|SNOMEDCT:702347001|UMLS:C1857316|http://identifiers.org/omim/221770|ORPHA:2770|MESH:C536329 http://purl.obolibrary.org/obo/MONDO_0009092 PLOSL|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL|NHD|polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly|brain-bone-fat disease|PLO-SL|PLOSL|presenile dementia with bone cysts|dementia, progressive, with lipomembranous polycystic osteodysplasia|dementia, prefrontal, with bone cysts|Nasu-Hakola disease ordo_malformation_syndrome MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities biolink:Disease mondo UMLS:C3489787|Orphanet:231720|GARD:0010603|OMIM:221750|MESH:C536710 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. UMLS:C3489787|http://identifiers.org/omim/221750|ORPHA:231720|MESH:C536710 http://purl.obolibrary.org/obo/MONDO_0009091 deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|Pituitary hormone deficiency, combined with rigid cervical spine|non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome|pituitary hormone deficiency, combined, type 3|CPHD3|Winkelmann-Bethge-Pfeiffer syndrome|Deafness, sensorineural with pituitary dwarfism|pituitary hormone deficiency, combined, 3; CPHD3|pituitary hormone deficiency, combined, with rigid cervical spine|pituitary hormone deficiency, combined, 3 ordo_malformation_syndrome|gard_rare MONDO:0009090 deafness, sensorineural, autosomal-mitochondrial type biolink:Disease mondo OMIM:221745|MESH:C565637 http://identifiers.org/omim/221745|MESH:C565637 http://purl.obolibrary.org/obo/MONDO_0009090 deafness, sensorineural, autosomal-mitochondrial type MONDO:0010071 obsolete spondyloenchondrodysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010071 MONDO:0010070 BCYM1A biolink:Disease mondo OMIM:271530|MESH:C537099|UMLS:C1849055|Orphanet:93301 ORPHA:93301|MESH:C537099|UMLS:C1849055|http://identifiers.org/omim/271530 http://purl.obolibrary.org/obo/MONDO_0010070 BCYM1A|spondylodysplasia with Pure brachyolmia|brachyolmia, recessive type of Hobaek|brachyolmia type 1, Hobaek type; BCYM1A|brachyolmia type 1, Hobaek type MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type biolink:Disease mondo UMLS:C1849053|ICD10:Q77.7|Orphanet:163665|MESH:C564796|SCTID:719202006|OMIM:271620 Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. http://identifiers.org/omim/271620|SNOMEDCT:719202006|ORPHA:163665|UMLS:C1849053|MESH:C564796 http://purl.obolibrary.org/obo/MONDO_0010073 spondyloepiphyseal dysplasia tarda with mental retardation|spondyloepiphyseal dysplasia tarda with intellectual disability|Sedt with mental retardation|Sedt with intellectual disability ordo_disease MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive biolink:Disease mondo MESH:C564797|UMLS:C1849054|OMIM:271600 Autosomal recessive form of spondyloepiphyseal dysplasia tarda. UMLS:C1849054|MESH:C564797|http://identifiers.org/omim/271600 http://purl.obolibrary.org/obo/MONDO_0010072 autosomal recessive spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, autosomal recessive MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures biolink:Disease mondo OMIM:271640 Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene. http://identifiers.org/omim/271640 http://purl.obolibrary.org/obo/MONDO_0010075 spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures; SEMDJL1|spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6|B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity|SEMDJL1|spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures|SEMDJL MONDO:0010074 BCYM1B biolink:Disease mondo OMIM:271630|UMLS:C1849048|Orphanet:93303|MESH:C535787 http://identifiers.org/omim/271630|ORPHA:93303|UMLS:C1849048|MESH:C535787 http://purl.obolibrary.org/obo/MONDO_0010074 spondyloepiphyseal dysplasia tarda, Toledo type|Sed, chondroitin sulfate type|BCYM1B|brachyolmia type 1, Toledo type; BCYM1B|brachyolmia type 1, Toledo type|PAPS-chondroitin sulfate sulfotransferase deficiency HP:0011354 Generalized abnormality of skin biolink:PhenotypicFeature mondo UMLS:C4021157 An abnormality of the skin that is not localized to any one particular region. http://purl.obolibrary.org/obo/HP_0011354 Generalised abnormality of skin|Generalized abnormality of skin HP:0011355 Localized skin lesion biolink:PhenotypicFeature mondo UMLS:C0850826 A lesion of the skin that is located in a specific region rather than being generalized. http://purl.obolibrary.org/obo/HP_0011355 Localised skin lesion|Localized skin lesion HP:0011356 Regional abnormality of skin biolink:PhenotypicFeature mondo UMLS:C4023402 An abnormality of the skin that is restricted to a particular body region. http://purl.obolibrary.org/obo/HP_0011356 HP:0011357 obsolete Abnormality of hair density biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0011357 GO:0002284 myeloid dendritic cell differentiation involved in immune response biolink:OntologyClass mondo The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response. http://purl.obolibrary.org/obo/GO_0002284 myeloid dendritic cell differentiation during immune response GO:0002285 lymphocyte activation involved in immune response biolink:OntologyClass mondo A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_0002285 lymphocyte activation during immune response GO:0002286 T cell activation involved in immune response biolink:OntologyClass mondo The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_0002286 T-cell activation during immune response|T lymphocyte activation during immune response|T-lymphocyte activation during immune response|T cell activation during immune response OBO:chebi#is_substituent_group_from is substituent group from biolink:OntologyClass mondo http://purl.obolibrary.org/obo/chebi#is_substituent_group_from MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type biolink:Disease mondo OMIM:220111|SCTID:718219002|Orphanet:70472|ICD10:G31.8|MESH:C537004|GARD:0008370 Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. http://identifiers.org/omim/220111|MESH:C537004|ORPHA:70472|SNOMEDCT:718219002 http://purl.obolibrary.org/obo/MONDO_0009069 Cox deficiency, Saguenay Lac saint Jean type|Cox deficiency, French Canadian type|cytochrome C oxidase deficiency, French Canadian type|COX deficiency, French-Canadian type|Leigh syndrome, French Canadian type|cytochrome C oxidase deficiency, French-Canadian type|Leigh syndrome, French Canadian type; LSFC|LSFC|Leigh syndrome, Saguenay-Lac-Saint-Jean type|Cox deficiency, Saguenay-Lac-Saint-Jean type|Leigh syndrome, Saguenay Lac saint Jean type|cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type|SLSJ-COX deficiency|Leigh syndrome, French-Canadian type ordo_disease MONDO:0009068 cytochrome-c oxidase deficiency disease biolink:Disease mondo ICD10:E88.8|SCTID:67434000|Orphanet:254905|GARD:0000048|DOID:3762|NCIT:C98910|MESH:D030401|OMIM:220110|UMLS:C0268237 A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. http://identifiers.org/omim/220110|MESH:D030401|SNOMEDCT:67434000|ORPHA:254905|DOID:3762|NCIT:C98910|UMLS:C0268237 http://purl.obolibrary.org/obo/MONDO_0009068 Complex 4 mitochondrial respiratory chain deficiency|isolated COX deficiency|COX deficiency|Complex IV deficiency|Cox deficiency|isolated cytochrome C oxidase deficiency|cytochrome C oxidase deficiency|mitochondrial Complex 4 deficiency|isolated mitochondrial respiratory chain complex IV deficiency|cytochrome-C oxidase deficiency|mitochondrial complex IV deficiency|deficiency of mitochondrial respiratory chain complex4 gard_rare|ordo_disease GO:0002281 macrophage activation involved in immune response biolink:OntologyClass mondo A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_0002281 macrophage polarization involved in immune response|macrophage activation during immune response MONDO:0009067 cystinuria (disease) biolink:Disease mondo NCIT:C84664|ICD10:E72.01|HP:0003131|SCTID:85020001|MESH:D003555|ICD10:E72.0|OMIM:220100|GARD:0006237|MedDRA:10011778|DOID:9266|Orphanet:214|UMLS:C0010691 Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. UMLS:C0268646|MESH:D003555|http://identifiers.org/omim/220100|MEDDRA:10011778|ORPHA:214|SNOMEDCT:85020001|UMLS:C0010691|DOID:9266|NCIT:C84664 http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria, type II|cystinuria, type B|cystinuria, type a|CSNU|cystinuria-lysinuria|cystinuria, type III, formerly|cystinuria, type non-I, formerly|cystinuria, type I, formerly|cystinuria, type non-I|cystinuria, type III|cystinuria-lysinuria syndrome|cystinuria, type I|cystinuria|cystinuria, type II, formerly|cystinuria, type A/B gard_rare|ordo_disease MONDO:0010066 familial isolated congenital asplenia biolink:Disease mondo ICD10:Q89.0|Orphanet:101351|MESH:C563028|SCTID:726708009|OMIM:271400 Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. MESH:C563028|http://identifiers.org/omim/271400|SNOMEDCT:726708009|ORPHA:101351 http://purl.obolibrary.org/obo/MONDO_0010066 ICAS|asplenia, isolated congenital; ICAS|hyposplenia, isolated congenital|splenic hypoplasia|asplenia, familial|asplenia, isolated congenital ordo_morphological_anomaly MONDO:0009066 juvenile nephropathic cystinosis biolink:Disease mondo ICD10:N16.3*|MESH:C562683|ICD10:E72.0+|EFO:0009049|Orphanet:411634|UMLS:C0268626|OMIM:219900|SCTID:22830006 Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. UMLS:C0268626|SNOMEDCT:22830006|ORPHA:411634|MESH:C562683|http://identifiers.org/omim/219900 http://purl.obolibrary.org/obo/MONDO_0009066 intermediate cystinosis|cystinosis, intermediate|cystinosis, late-onset juvenile or adolescent nephropathic type|juvenile cystinosis ordo_clinical_subtype MONDO:0010065 spinocerebellar degeneration with slow eye movements biolink:Disease mondo OMIM:271322 http://identifiers.org/omim/271322 http://purl.obolibrary.org/obo/MONDO_0010065 SDSEM|spinocerebellar degeneration with slow eye movements; SDSEM|spinocerebellar degeneration with slow eye movements MONDO:0009065 obsolete cystinosis, nephropathic biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009065 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type biolink:Disease mondo SCTID:389161008|MESH:C535786|OMIM:271510|DOID:5684|GARD:0004970|NCIT:C129031|ICD10:Q77.7|ICD9:756.9|Orphanet:93357 A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation. SNOMEDCT:389161008|MESH:C535786|http://identifiers.org/omim/271510|ORPHA:93357|NCIT:C129031|DOID:5684 http://purl.obolibrary.org/obo/MONDO_0010068 spondyloepimetaphyseal dysplasia Sponastrime type|spondyloepimetaphyseal dysplasia, sponastrime type|short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation|spondylar and nasal alterations with striated metaphyses|sponastrime dysplasia|short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation|spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia|Sponastrime dysplasia|spondylar and nasal alterations-striated metaphyses syndrome|spondyloepimetaphyseal dysplasia, Sponastrime type|spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia gard_rare|ordo_disease MONDO:0009064 ocular cystinosis biolink:Disease mondo UMLS:C2931013|MESH:C535765|OMIM:219750|Orphanet:411641|ICD10:E72.0 Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations. ORPHA:411641|MESH:C535765|UMLS:C2931013|http://identifiers.org/omim/219750 http://purl.obolibrary.org/obo/MONDO_0009064 cystinosis, ADULT NONNEPHROPATHIC|cystinosis, ocular Nonnephropathic|non-nephropathic cystinosis|adult-onset cystinosis|cystinosis, benign Nonnephropathic ordo_clinical_subtype MONDO:0010067 splenoportal vascular anomalies biolink:Disease mondo OMIM:271500|SCTID:234131004|MESH:C562761 http://identifiers.org/omim/271500|MESH:C562761|SNOMEDCT:234131004 http://purl.obolibrary.org/obo/MONDO_0010067 splenoportal vascular anomalies MONDO:0009063 ventriculomegaly-cystic kidney disease biolink:Disease mondo Orphanet:443988|OMIM:219730|UMLS:C1857423 ORPHA:443988|UMLS:C1857423|http://identifiers.org/omim/219730 http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly with cystic kidney disease|congenital nephrosis-cerebral ventriculomegaly syndrome|ventriculomegaly with cystic kidney disease; VMCKD|VMCKD ordo_disease MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome biolink:Disease mondo OMIM:219721|GARD:0003303|MESH:C537039|Orphanet:2575|SCTID:720401009 A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. MESH:C537039|ORPHA:2575|UMLS:C2931402|http://identifiers.org/omim/219721|SNOMEDCT:720401009 http://purl.obolibrary.org/obo/MONDO_0009062 cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability|cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies|cystic fibrosis gastritis megaloblastic anemia|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation|Lubani-Al Saleh-Teebi syndrome|Lubani Al Saleh Teebi syndrome ordo_disease MONDO:0009061 cystic fibrosis biolink:Disease mondo MESH:D003550|ICD10:E84.9|DOID:1485|COHD:441267|ICD10:E84|ICD10:E84.8|NCIT:C2975|GARD:0006233|UMLS:C0010674|ICD9:277.0|ICD10:E84.1|SCTID:190905008|ICD10:E84.0|Orphanet:586|MedDRA:10011762|OMIM:219700 Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. NCIT:C2975|MEDDRA:10011762|ORPHA:586|UMLS:C0010674|DOID:1485|SNOMEDCT:190905008|http://identifiers.org/omim/219700|MESH:D003550 http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis; CF|mucoviscidosis|CF|cystic fibrosis ordo_disease|gard_rare MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome biolink:Disease mondo OMIM:271520|Orphanet:94095|UMLS:C1849069|MESH:C564799|ICD10:Q87.8 Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested. UMLS:C1849069|http://identifiers.org/omim/271520|ORPHA:94095|MESH:C564799 http://purl.obolibrary.org/obo/MONDO_0010069 CMn syndrome|Casamassima-Morton-Nance syndrome|spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome|spondylocostal dysostosis with anal atresia and urogenital anomalies ordo_malformation_syndrome MONDO:0009060 cystic disease of lung biolink:Disease mondo OMIM:219600|UMLS:C1384901|MESH:C563237 MESH:C563237|UMLS:C1384901|http://identifiers.org/omim/219600 http://purl.obolibrary.org/obo/MONDO_0009060 cystic disease of lung MONDO:0010060 infantile onset spinocerebellar ataxia biolink:Disease mondo Orphanet:1186|MESH:C535523|DOID:0080126|OMIM:271245|SCTID:724227000|DOID:0050556|UMLS:C1849096|ICD10:G11.1|GARD:0004062 Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. DOID:0080126|ORPHA:1186|DOID:0050556|SNOMEDCT:724227000|MESH:C535523|http://identifiers.org/omim/271245|UMLS:C1849096 http://purl.obolibrary.org/obo/MONDO_0010060 OHAHA syndrome|Ohaha syndrome|ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|mitochondrial DNA depletion syndrome type 7|MTDPS7|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|TWNK autosomal recessive degenerative and progressive cerebellar ataxia|IOSCA|mitochondrial DNA depletion syndrome 7 (hepatocerebral type); MTDPS7|spinocerebellar ataxia 8, formerly|autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK|ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|spinocerebellar ataxia, infantile, with sensory neuropathy|spinocerebellar ataxia 8 (formerly)|mitochondrial DNA depletion syndrome 7 (hepatocerebral type)|spinocerebellar ataxia 8|spinocerebellar ataxia, infantile-onset|ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis|SCA8 (formerly)|spinocerebellar ataxia infantile with sensory neuropathy|mitochondrial DNA depletion syndrome 7 ordo_disease MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome biolink:Disease mondo UMLS:C1849088|ICD10:G11.8|MESH:C564802|OMIM:271270|Orphanet:1185|GARD:0004958 Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. UMLS:C1849088|MESH:C564802|ORPHA:1185|http://identifiers.org/omim/271270 http://purl.obolibrary.org/obo/MONDO_0010062 spinocerebellar ataxia with dysmorphism ordo_disease MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome biolink:Disease mondo ICD10:G11.1|OMIM:271250|Orphanet:95433|UMLS:C1849094|MESH:C537309|GARD:0009971 ORPHA:95433|MESH:C537309|UMLS:C1849094|http://identifiers.org/omim/271250 http://purl.obolibrary.org/obo/MONDO_0010061 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome|spinocerebellar ataxia with blindness and deafness|SCABD|spinocerebellar ataxia, autosomal recessive 3|spinocerebellar ataxia autosomal recessive 3|autosomal recessive cerebellar ataxia - blindness - deafness|autosomal recessive spinocerebellar ataxia type 3|spinocerebellar ataxia, autosomal recessive 3; SCAR3|autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome|SCAR3 ordo_disease MONDO:0010064 spastic ataxia-corneal dystrophy syndrome biolink:Disease mondo Orphanet:2572|OMIM:271320|SCTID:715465001|ICD10:G11.8|GARD:0003795|UMLS:C1849085|MESH:C536989 Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. UMLS:C1849085|MESH:C536989|http://identifiers.org/omim/271320|ORPHA:2572|SNOMEDCT:715465001 http://purl.obolibrary.org/obo/MONDO_0010064 spastic ataxia-ocular anomalies syndrome|spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs|Mousa-Al Din-Al Nassar syndrome|spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia|Bedouin spastic ataxia syndrome|Mousa Al din Al Nassar syndrome ordo_disease MONDO:0010063 corneal-cerebellar syndrome biolink:Disease mondo Orphanet:3177|SCTID:720750004|UMLS:C1849087|ICD10:G11.1|GARD:0001525|OMIM:271310|MESH:C535472 Corneal cerebellar syndrome is characterised by the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of whom had only minor spinocerebellar signs without ocular involvement. UMLS:C1849087|http://identifiers.org/omim/271310|SNOMEDCT:720750004|ORPHA:3177|MESH:C535472 http://purl.obolibrary.org/obo/MONDO_0010063 spinocerebellar degeneration corneal dystrophy|corneal-cerebellar syndrome|spinocerebellar degeneration-corneal dystrophy syndrome|corneal cerebellar syndrome|Der Kaloustian Jarudi Khoury syndrome|corneal dystrophy with spinocerebellar Degeneration|Der Kaloustian-Jarudi-Khoury syndrome|spinocerebellar degeneration and corneal dystrophy ordo_malformation_syndrome MONDO:0022034 lentivirus infection biolink:Disease mondo MESH:D016180|UMLS:C0079680|EFO:1001357 Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. UMLS:C0079680|MESH:D016180 http://purl.obolibrary.org/obo/MONDO_0022034 Disease due to Lentivirus|Infection, Lentivirus|Lentivirus Infections|Infections, Lentivirus|Lentivirus Infection|Disease caused by Lentivirus MONDO:0022037 large-cell immunoblastic lymphoma biolink:Disease mondo MESH:D016400|GARD:0008219|UMLS:C0079746 Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan. UMLS:C0079746|MESH:D016400 http://purl.obolibrary.org/obo/MONDO_0022037 Lymphoma, Immunoblastic, Large Cell|Large-Cell Immunoblastic Lymphomas|Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical)|Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma|Lymphoma, immunoblastic, high grade|Immunoblastic malignant lymphoma - large cell|Large Cell Immunoblastic Lymphoma|Lymphoma, Large-Cell, Immunoblastic|Diffuse Immunoblastic Lymphosarcomas|Lymphoma, Immunoblastic, Large-Cell|Immunoblastic Lymphoma, Large-Cell|Lymphoma, Immunoblastic Large-Cell|Sarcoma, Immunoblastic|Immunoblastic Lymphoma|Lymphosarcomas, Diffuse Immunoblastic|Immunoblastic Lymphosarcomas, Diffuse|LARGE IMMUNOBLASTIC LYMPHOMA|LYMPHOMA IMMUNOBLASTIC LARGE|IMMUNOBLASTIC LARGE LYMPHOMA|Immunoblastic Lymphosarcoma, Diffuse|Immunoblastic Large-Cell Lymphoma|LYMPHOMA LARGE IMMUNOBLASTIC|Lymphomas, Immunoblastic Large-Cell|Lymphoma, Large Cell, Immunoblastic|Diffuse non-Hodgkin lymphoma, immunoblastic|Immunoblastomas|Malignant lymphoma - immunoblastic|Large-Cell Lymphoma, Immunoblastic|Immunoblastic Sarcomas|Immunoblastic Sarcoma|Immunoblastic Large Cell Lymphoma|Lymphoma, Large-Cell Immunoblastic|Immunoblastoma|Diffuse non-Hodgkin's lymphoma, immunoblastic|Large cell immunoblastic lymphoma|Immunoblastic Large-Cell Lymphomas|Lymphosarcoma, Diffuse Immunoblastic|Large-Cell Lymphomas, Immunoblastic|Immunoblastic Lymphomas, Large-Cell|Lymphomas, Large-Cell Immunoblastic|Diffuse Immunoblastic Lymphosarcoma|Sarcomas, Immunoblastic|Large-Cell Immunoblastic Lymphoma gard_rare GO:0002292 T cell differentiation involved in immune response biolink:OntologyClass mondo The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells. http://purl.obolibrary.org/obo/GO_0002292 T lymphocyte differentiation during immune response|T-cell differentiation during immune response|T cell differentiation during immune response|T cell development involved in immune response|T-lymphocyte differentiation during immune response MONDO:0009079 DOORS syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:79500|SCTID:719800009|GARD:0001685|MESH:C563052|OMIM:220500 DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome. SNOMEDCT:719800009|http://identifiers.org/omim/220500|ORPHA:79500|MESH:C563052 http://purl.obolibrary.org/obo/MONDO_0009079 autosomal recessive deafness-onychodystrophy syndrome|deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome; DOORS|door syndrome|DOORS|deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome|deafness onychodystrophy osteodystrophy and mental retardation syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome|brachydactyly due to absence of distal phalanges|deafness onychodystrophy osteodystrophy and intellectual disability syndrome|deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome; DOORS|deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome|deafness-onychoosteodystrophy-intellectual disability syndrome|Eronen syndrome|drc syndrome|DOORS syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome|Digitorenocerebral syndrome gard_rare|ordo_malformation_syndrome MONDO:0009078 Jervell and Lange-Nielsen syndrome biolink:Disease mondo SCTID:373905003|Orphanet:90647|ICD10:I45.8|MedDRA:10057936|UMLS:C0022387|NCIT:C84793|OMIMPS:220400 Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias. ORPHA:90647|UMLS:C0022387|SNOMEDCT:373905003|MEDDRA:10057936|NCIT:C84793 http://purl.obolibrary.org/obo/MONDO_0009078 Jervell and Lange-Nielsen syndrome type 1|Jervell and Lange-Nielsen syndrome 1|Jervell and Lange Nielsen syndrome|long QT interval-deafness syndrome|JLNS1 prototype_pattern|ordo_clinical_subtype MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy biolink:Disease mondo UMLS:C1857348|MESH:C565649|OMIM:220300 UMLS:C1857348|http://identifiers.org/omim/220300|MESH:C565649 http://purl.obolibrary.org/obo/MONDO_0009077 deafness, congenital, and familial myoclonic epilepsy MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality biolink:Disease mondo UMLS:C1849108|MESH:C564806|OMIM:271110 http://identifiers.org/omim/271110|UMLS:C1849108|MESH:C564806 http://purl.obolibrary.org/obo/MONDO_0010055 spinal muscular atrophy with microcephaly and mental subnormality MONDO:0009076 autosomal recessive nonsyndromic deafness 1A biolink:Disease mondo GARD:0001697|MESH:C567134|NCIT:C129022|OMIM:220290|DOID:0110475|ICD10:H90.3 An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. http://identifiers.org/omim/220290|NCIT:C129022|DOID:0110475|MESH:C567134 http://purl.obolibrary.org/obo/MONDO_0009076 DFNB1A|autosomal recessive nonsyndromic deafness type 1A|deafness, autosomal recessive type 1A|deafness nonsyndromic, connexin 26 linked|deafness, autosomal recessive 1A; DFNB1A|autosomal recessive deafness 1A|deafness, digenic, Gjb2/Gjb6|deafness, autosomal recessive 1A|DFNB1|connexin 26 deafness|deafness, digenic, Gjb2/Gjb3|GJB2-related deafness gard_rare MONDO:0010054 spinal muscular atrophy with mental retardation biolink:Disease mondo MESH:C564807|UMLS:C1849109|OMIM:271109 http://identifiers.org/omim/271109|UMLS:C1849109|MESH:C564807 http://purl.obolibrary.org/obo/MONDO_0010054 spinal muscular atrophy with mental retardation|spinal muscular atrophy with intellectual disability MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome biolink:Disease mondo GARD:0001669|MESH:C535771|SCTID:733094005|UMLS:C1857351|ICD10:Q87.8|Orphanet:1566|OMIM:220220 Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. UMLS:C1857351|SNOMEDCT:733094005|ORPHA:1566|MESH:C535771|http://identifiers.org/omim/220220 http://purl.obolibrary.org/obo/MONDO_0009075 DWM with postaxial polydactyly|Pierquin syndrome|Dandy-Walker malformation with postaxial polydactyly ordo_malformation_syndrome MONDO:0010057 spinal muscular atrophy, Ryukyuan type biolink:Disease mondo GARD:0009646|MESH:C536881|OMIM:271200|UMLS:C1849102 MESH:C536881|http://identifiers.org/omim/271200|UMLS:C1849102 http://purl.obolibrary.org/obo/MONDO_0010057 spinal muscular atrophy, Ryukyuan type|Ryukyuan muscular atrophy|spinal muscular atrophy Ryukyuan type gard_rare MONDO:0010056 spinal muscular atrophy, type IV biolink:Disease mondo OMIM:271150|GARD:0000564|SCTID:85505000|ICD9:335.19|DOID:0050529|Orphanet:83420|ICD10:G12.1 Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. DOID:0050529|http://identifiers.org/omim/271150|ORPHA:83420|SNOMEDCT:85505000 http://purl.obolibrary.org/obo/MONDO_0010056 spinal muscular atrophy, type IV|spinal muscular atrophy 4|spinal muscular atrophy, adult form|adult-onset spinal muscular atrophy|spinal muscular atrophy, proximal, adult, autosomal recessive|spinal muscular atrophy, type 4|SMA4|proximal spinal muscular atrophy type 4|SMA type IV|SMA4|SMA type 4|adult spinal muscular atrophy|SMA 4|spinal muscular atrophy type 4|spinal muscular atrophy, type IV; SMA4|spinal muscular atrophy of adults|SMA-IV ordo_clinical_subtype|gard_rare MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome biolink:Disease mondo OMIM:220219|MESH:C535985|ICD10:Q87.8|Orphanet:1970|UMLS:C1857352 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. ORPHA:1970|MESH:C535985|http://identifiers.org/omim/220219|UMLS:C1857352 http://purl.obolibrary.org/obo/MONDO_0009074 Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY|Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY ordo_malformation_syndrome MONDO:0009073 Ritscher-Schinzel syndrome 1 biolink:Disease mondo DOID:0060571|OMIM:220210 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene. DOID:0060571|http://identifiers.org/omim/220210 http://purl.obolibrary.org/obo/MONDO_0009073 Ritscher-Schinzel syndrome caused by mutation in WASHC5|Craniocerebellocardiac dysplasia|RTSC1|RTSC|Dandy-Walker-like malformation with atrioventricular septal defect|Ritscher-Schinzel syndrome|3C syndrome|Ritscher-Schinzel syndrome 1; RTSC1|Ritscher-Schinzel syndrome type 1|Ritscher-Schinzel syndrome; RTSC|WASHC5 Ritscher-Schinzel syndrome MONDO:0010059 obsolete spinal muscular atrophy, type I, with congenital bone fractures biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010059 MONDO:0009072 Dandy-Walker syndrome biolink:Disease mondo GARD:0006242|MedDRA:10048411|COHD:4031189|EFO:1000890|ICD10:Q03.1|MESH:D003616|UMLS:C0010964|OMIM:220200|NCIT:C75012|SCTID:14447001|Orphanet:217|DOID:2785 Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. ORPHA:217|NCIT:C75012|DOID:2785|UMLS:C0010964|SNOMEDCT:14447001|MESH:D003616|http://identifiers.org/omim/220200 http://purl.obolibrary.org/obo/MONDO_0009072 mega cisterna magna (type of DW complex)|Dandy-Walker malformation|Dandy-Walker complex|isolated Dandy-Walker malformation|atresia of foramina of Magendie and Luschka|DWS|Dandy-Walker variant (type of DW complex)|Dandy-Walker syndrome; DWS|Dandy-Walker syndrome|DW complex|Dandy-Walker syndrome or malformation (type of DW complex) ordo_morphological_anomaly MONDO:0010058 scapuloperoneal spinal muscular atrophy, autosomal recessive biolink:Disease mondo UMLS:CN074295|OMIM:271220 http://identifiers.org/omim/271220|UMLS:CN074295 http://purl.obolibrary.org/obo/MONDO_0010058 spinal muscular atrophy, scapuloperoneal MONDO:0009071 hereditary renal hypouricemia biolink:Disease mondo MESH:C537757|GARD:0009496|SCTID:236478009|Orphanet:94088|ICD9:790.6 Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF). MESH:C537757|ORPHA:94088|SNOMEDCT:236478009 http://purl.obolibrary.org/obo/MONDO_0009071 hypouricemia, renal|Dalmatian hypouricemia|renal hypouricemia ordo_malformation_syndrome MONDO:0034082 obsolete necrobiosis lipoidica biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0034082 MONDO:0009070 D-glyceric aciduria biolink:Disease mondo ICD10:E74.8|UMLS:C1291386|GARD:0000234|SCTID:237980004|NCIT:C128804|Orphanet:941|MESH:C535767|UMLS:C0342765|OMIM:220120 A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21. SNOMEDCT:237980004|ORPHA:941|NCIT:C128804|MESH:C535767|UMLS:C0342765|UMLS:C1291386|http://identifiers.org/omim/220120 http://purl.obolibrary.org/obo/MONDO_0009070 d-glyceric aciduria|D-glyceric acidemia|D-glycericacidemia|non ketotic hyperglycinemia syndrome|glycerate kinase deficiency|D-glycerate kinase deficiency ordo_disease MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome biolink:Disease mondo MESH:C564808|Orphanet:3011|UMLS:C1849112|OMIM:270950|GARD:0004932 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents. UMLS:C1849112|MESH:C564808|http://identifiers.org/omim/270950|ORPHA:3011 http://purl.obolibrary.org/obo/MONDO_0010051 spastic quadriplegia, retinitis pigmentosa, and intellectual disability|spastic quadriplegia retinitis pigmentosa mental retardation|progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss|spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome|spastic quadriplegia retinitis pigmentosa intellectual disability|progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss|spastic quadriplegia, retinitis pigmentosa, and mental retardation ordo_disease MONDO:0010050 spastic pseudosclerosis biolink:Disease mondo UMLS:C0599464|OMIM:270900|MESH:C563024 MESH:C563024|http://identifiers.org/omim/270900|UMLS:C0599464 http://purl.obolibrary.org/obo/MONDO_0010050 Corticopallidodegeneration|disseminated encephalomyelopathy|spastic pseudosclerosis MONDO:0010053 hereditary spherocytosis type 3 biolink:Disease mondo MESH:C567489|DOID:0110918|OMIM:270970|UMLS:C2678338 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene. DOID:0110918|http://identifiers.org/omim/270970|UMLS:C2678338|MESH:C567489 http://purl.obolibrary.org/obo/MONDO_0010053 spherocytosis, type 3|HS3|hereditary spherocytosis caused by mutation in SPTA1|spherocytosis, hereditary, 3|hereditary spherocytosis 3|SPTA1 hereditary spherocytosis|spherocytosis, type 3; SPH3|SPH3 MONDO:0010052 spermatogenic failure 4 biolink:Disease mondo MESH:C536875|DOID:0070176|OMIM:270960|GARD:0008530 Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene. MESH:C536875|http://identifiers.org/omim/270960|DOID:0070176 http://purl.obolibrary.org/obo/MONDO_0010052 azoospermia with maturation arrest|SYCP3 azoospermia|pregnancy loss, recurrent, susceptibility to, 4|spermatogenic failure 4|azoospermia caused by mutation in SYCP3|SPGF4|spermatogenic failure type 4|spermatogenesis arrest|arrest of spermatogenesis|azoospermia due to Perturbations of meiosis|spermatogenic failure 4; SPGF4|pregnancy loss, recurrent, 4 predisposition GO:0002269 leukocyte activation involved in inflammatory response biolink:OntologyClass mondo A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response. http://purl.obolibrary.org/obo/GO_0002269 leukocyte activation during inflammatory response|immune cell activation during inflammatory response GO:0002262 myeloid cell homeostasis biolink:OntologyClass mondo The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. http://purl.obolibrary.org/obo/GO_0002262 GO:0002263 cell activation involved in immune response biolink:OntologyClass mondo A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_0002263 cell activation during immune response HGNC:21285 ADCY10 biolink:OntologyClass mondo http://identifiers.org/hgnc/21285 ENVO:01001311 solid surface layer biolink:OntologyClass mondo A surface layer which is composed primarily of solid environmental material. http://purl.obolibrary.org/obo/ENVO_01001311 GO:0002277 myeloid dendritic cell activation involved in immune response biolink:OntologyClass mondo The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_0002277 myeloid dendritic cell activation during immune response GO:0002279 mast cell activation involved in immune response biolink:OntologyClass mondo The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_0002279 mast cell activation during immune response GO:0002274 myeloid leukocyte activation biolink:OntologyClass mondo A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/GO_0002274 myeloid leucocyte activation MONDO:0022094 Cartwright Nelson Fryns syndrome biolink:Disease mondo GARD:0001132|UMLS:C2931062|MESH:C535917 MESH:C535917|UMLS:C2931062 http://purl.obolibrary.org/obo/MONDO_0022094 Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails|Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails gard_rare GO:0002275 myeloid cell activation involved in immune response biolink:OntologyClass mondo A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_0002275 myeloid cell activation during immune response MONDO:0022096 pyogenic granuloma biolink:Disease mondo MESH:D017789|GARD:0010963|SCTID:200722003|UMLS:C0085653 A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. SNOMEDCT:200722003|UMLS:C0085653|MESH:D017789 http://purl.obolibrary.org/obo/MONDO_0022096 Granulomata Pyogenicum|Granuloma pyogenicum|angiogranulomas|PG - Pyogenic granuloma|Capillary Hemangioma, Lobular|hemangioma, Lobular Capillary|Granuloma Telangiecticum|Pyogenic Granuloma|Granuloma Pyogenicum|Lobular Capillary Hemangioma|Capillary hemangioma of granulation tissue type|Pyogenic granuloma|hemangiomatous Granulation Tissue|Lobular capillary hemangioma|Granuloma telangiectaticum|Granuloma, Pyogenic|Lobular Hemangioma|angiogranuloma|Granulation Tissue-Type Hemangioma ENVO:01001319 saline water body biolink:OntologyClass mondo A body of water which is primarily composed of saline water. http://purl.obolibrary.org/obo/ENVO_01001319 saline body of water MONDO:0022098 catamenial pneumothorax biolink:Disease mondo GARD:0009858|UMLS:C0340007|SCTID:233642001|MESH:C538279 Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery. MESH:C538279|SNOMEDCT:233642001|UMLS:C0340007 http://purl.obolibrary.org/obo/MONDO_0022098 premenstrual pneumothorax|catamenial pneumothorax gard_rare MONDO:0034022 myopathic Ehlers-Danlos syndrome biolink:Disease mondo Orphanet:536516 ORPHA:536516 http://purl.obolibrary.org/obo/MONDO_0034022 ordo_disease MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome biolink:Disease mondo Orphanet:536471 ORPHA:536471 http://purl.obolibrary.org/obo/MONDO_0034021 ordo_disease MONDO:0036688 rhabdomyoma biolink:Disease mondo ICDO:8900/0|MESH:D012207|UMLS:C0035411|NCIT:C3358|SCTID:402877008 A benign mesenchymal tumor arising from skeletal or cardiac muscle. MESH:D012207|UMLS:C0035411|SNOMEDCT:402877008|NCIT:C3358 http://purl.obolibrary.org/obo/MONDO_0036688 Rhabdomyomatous neoplasm|rhabdomyoma|rhabdomyoma, benign ENVO:01001310 liquid surface layer biolink:OntologyClass mondo A surface layer which is composed primarily of some liquid. http://purl.obolibrary.org/obo/ENVO_01001310 MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome biolink:Disease mondo Orphanet:536545 A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. ORPHA:536545 http://purl.obolibrary.org/obo/MONDO_0034024 EDS VI|kyphoscoliotic EDS ordo_disease MONDO:0022089 Carnevale hernandez castillo syndrome biolink:Disease mondo GARD:0001117|MESH:C535585|UMLS:C2930940 UMLS:C2930940|MESH:C535585 http://purl.obolibrary.org/obo/MONDO_0022089 Triphalyngeal thumbs and brachyectrodactyly gard_rare GO:0002244 hematopoietic progenitor cell differentiation biolink:OntologyClass mondo The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. http://purl.obolibrary.org/obo/GO_0002244 haematopoietic progenitor cell differentiation|haemopoietic progenitor cell differentiation|hemopoietic progenitor cell differentiation GO:0002246 wound healing involved in inflammatory response biolink:OntologyClass mondo The series of events that restore integrity to damaged tissue that contribute to an inflammatory response. http://purl.obolibrary.org/obo/GO_0002246 healing during inflammatory response|inflammatory response wound healing ENVO:01001346 erosion biolink:OntologyClass mondo An action of exogenic processes (such as water flow or wind) which remove environmental material from one location on the surface of an astronomical body, transporting it to another location where it is deposited. http://purl.obolibrary.org/obo/ENVO_01001346 NCBITaxon:135621 Pseudomonadaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_135621 HP:0011390 Morphological abnormality of the inner ear biolink:PhenotypicFeature mondo UMLS:C4023381 A structural anomaly of the internal part of the ear. http://purl.obolibrary.org/obo/HP_0011390 NCBITaxon:135625 Pasteurellales organism taxon mondo PMID:16280474|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_135625 Pasteruellaceae group NCBITaxon:135624 Aeromonadales organism taxon mondo PMID:16280474|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_135624 Aeromonadaceae/Succinivibrionaceae group NCBITaxon:135623 Vibrionales organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_135623 Vibrionaceae group|'Vibrionales' MONDO:0036696 spleen neoplasm biolink:Disease mondo GARD:0007683|NCIT:C3383 A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma. NCIT:C3383 http://purl.obolibrary.org/obo/MONDO_0036696 tumor of spleen|splenic neoplasm|neoplasm of spleen|spleen tumor GO:0016885 ligase activity, forming carbon-carbon bonds biolink:OntologyClass mondo Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. http://purl.obolibrary.org/obo/GO_0016885 GO:0016881 acid-amino acid ligase activity biolink:OntologyClass mondo Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. http://purl.obolibrary.org/obo/GO_0016881 peptide synthase activity UBERON:5003635 pedal digit 5 plus metapodial segment biolink:AnatomicalEntity mondo A subdivision of the autopod consisting of pedal digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_5003635 pedal digit 5 ray|pedal digit 5 ( phalanges plus metapodial) plus soft tissue|pedal digit 5 digitopodial subdivision|pedal digit 5|pedal digit V plus metapodial segment HP:0011387 Enlarged vestibular aqueduct biolink:PhenotypicFeature mondo MSH:C566366|UMLS:C1863752 Increased size of the vestibular aqueduct. http://purl.obolibrary.org/obo/HP_0011387 Widened vestibular aqueduct|Dilated vestibular aqueduct ENVO:01001334 advective transport process biolink:OntologyClass mondo A material transport process during which a volume of material is displaced due to a disequilibrium in physical forces and during which 1) the qualities that inhere in that volume and 2) the processes that are unfolding within it are largely unchanged. http://purl.obolibrary.org/obo/ENVO_01001334 advective transport HP:0011389 Functional abnormality of the inner ear biolink:PhenotypicFeature mondo UMLS:C4023382 An abnormality of the function of the inner ear. http://purl.obolibrary.org/obo/HP_0011389 Functional abnormality of the inner ear UBERON:5003631 pedal digit 1 plus metapodial segment biolink:AnatomicalEntity mondo A subdivision of the autopod consisting of pedal digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_5003631 pedal digit 1 digitopodial subdivision|pedal digit 1 ray|pedal digit 1 ( phalanges plus metapodial) plus soft tissue|pedal digit 1|pedal digit I plus metapodial segment OBO:mondo#disease_has_basis_in_development_of disease_has_basis_in_development_of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of GO:0002250 adaptive immune response biolink:OntologyClass mondo An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). http://purl.obolibrary.org/obo/GO_0002250 acquired immune response|immune memory response MONDO:0022070 Cantu sanchez-corona hernandez syndrome biolink:Disease mondo GARD:0001083 Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies http://purl.obolibrary.org/obo/MONDO_0022070 gard_rare MONDO:0022071 carbon baby syndrome biolink:Disease mondo SCTID:238700008|UMLS:C0406419|GARD:0001089 Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown. SNOMEDCT:238700008|UMLS:C0406419 http://purl.obolibrary.org/obo/MONDO_0022071 universal acquired melanosis gard_rare GO:0002252 immune effector process biolink:OntologyClass mondo Any process of the immune system that can potentially contribute to an immune response. http://purl.obolibrary.org/obo/GO_0002252 GO:0002253 activation of immune response biolink:OntologyClass mondo Any process that initiates an immune response. http://purl.obolibrary.org/obo/GO_0002253 MONDO:0010099 Tay-Sachs disease AB variant biolink:Disease mondo Orphanet:309246|MESH:D049290|SCTID:71253000|ICD10:E75.0|UMLS:C0268275|NCIT:C133084|DOID:4795|OMIM:272750 GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency. UMLS:C0268275|NCIT:C133084|SNOMEDCT:71253000|MESH:D049290|DOID:4795|http://identifiers.org/omim/272750|ORPHA:309246 http://purl.obolibrary.org/obo/MONDO_0010099 Tay-Sachs disease, variant AB|hexosaminidase activator deficiency|GM2-gangliosidosis, AB variant|Ab variant GM2-gangliosidosis|GM2 activator deficiency|Tay-Sachs disease, AB variant|GM2 gangliosidosis, AB variant ordo_disease MONDO:0010098 taurodontism (disease) biolink:Disease mondo MESH:C536946|ICD10:K00.2|SCTID:51744007|OMIM:272700|HP:0000679|UMLS:C0266039|GARD:0005119|Orphanet:3289 Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome. ORPHA:3289|UMLS:C0266039|SNOMEDCT:51744007|MESH:C536946|http://identifiers.org/omim/272700 http://purl.obolibrary.org/obo/MONDO_0010098 Bull teeth|large pulp chambers in the molars|taurodontism ordo_morphological_anomaly MONDO:0034041 congenital axonal neuropathy with encephalopathy biolink:Disease mondo Orphanet:538101 A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. ORPHA:538101 http://purl.obolibrary.org/obo/MONDO_0034041 ordo_disease MONDO:0010091 Cold-induced sweating syndrome 1 biolink:Disease mondo OMIM:272430|GARD:0001611|MESH:C536214|Orphanet:1545|SCTID:725097006|ICD10:G90.8 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. http://identifiers.org/omim/601378|UMLS:C1832409|ORPHA:1545|MESH:C536214|http://identifiers.org/omim/272430|SNOMEDCT:725097006 http://purl.obolibrary.org/obo/MONDO_0010091 CRISPONI/cold-induced sweating syndrome 1; CISS1|Crisponi/cold-induced sweating syndrome 1|Crisponi syndrome|muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death|cold-induced sweating syndrome 1|cold-induced sweating syndrome 1; CISS1|Sohar-Crisponi syndrome|cold-induced sweating syndrome type 1|CISS1 ordo_malformation_syndrome MONDO:0010090 Summitt syndrome biolink:Disease mondo UMLS:C1802405|ICD10:Q82.0|GARD:0000127|Orphanet:3210|MESH:C538142|SCTID:733606001|OMIM:272350 Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome. ORPHA:3210|MESH:C538142|UMLS:C1802405|http://identifiers.org/omim/272350|SNOMEDCT:733606001 http://purl.obolibrary.org/obo/MONDO_0010090 recessive acrocephalosyndactyly with normal intelligence|Summitt's acrocephalosyndactyly|Summitt syndrome ordo_malformation_syndrome|gard_rare MONDO:0010093 syndesmodysplasic dwarfism biolink:Disease mondo OMIM:272450|Orphanet:2654|MESH:C537869|UMLS:C2931647 ORPHA:2654|MESH:C537869|http://identifiers.org/omim/272450|UMLS:C2931647 http://purl.obolibrary.org/obo/MONDO_0010093 syndesmodysplasic dwarfism MONDO:0010092 Filippi syndrome biolink:Disease mondo OMIM:272440|ICD10:Q87.8|SCTID:720954000|Orphanet:3255|MESH:C538152|GARD:0000062|UMLS:C0795940 Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. ORPHA:3255|MESH:C538152|SNOMEDCT:720954000|UMLS:C0795940|http://identifiers.org/omim/272440 http://purl.obolibrary.org/obo/MONDO_0010092 Scott craniodigital syndrome with mental retardation|unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly|syndactyly, type I, with microcephaly and intellectual disability|FLPIS|syndactyly type I with microcephaly and intellectual disability|syndactyly type I with microcephaly and mental retardation|unusual facial appearance, microcephaly, growth and mental retardation and syndactyly|type 1 syndactyly-microcephaly-intellectual disability syndrome|syndactyly, type I, with microcephaly and mental retardation|Filippi syndrome|FILIPPI syndrome; FLPIS|Scott craniodigital syndrome with intellectual disability gard_rare|ordo_malformation_syndrome MONDO:0010095 ataxia-tapetoretinal degeneration syndrome biolink:Disease mondo MESH:C564788|OMIM:272600|Orphanet:1178|UMLS:C1848932 UMLS:C1848932|ORPHA:1178|http://identifiers.org/omim/272600|MESH:C564788 http://purl.obolibrary.org/obo/MONDO_0010095 tapetoretinal degeneration with ataxia ordo_disease OIO:SubsetProperty subset_property biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#SubsetProperty MONDO:0010094 spondylocarpotarsal synostosis syndrome biolink:Disease mondo GARD:4974|DOID:0090116|ICD10:Q76.4|OMIM:272460|GARD:0004974|SCTID:702351004|Orphanet:3275|ICD9:758.89|UMLS:C1848934|MESH:C535780 Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. UMLS:C1848934|ORPHA:3275|http://identifiers.org/omim/272460|DOID:0090116|MESH:C535780|SNOMEDCT:702351004 http://purl.obolibrary.org/obo/MONDO_0010094 spondylocarpotarsal synostosis syndrome|spondylocarpotarsal syndrome|spondylocarpotarsal synostosis|Synspondylism|congenital scoliosis with unilateral unsegmented bar|spondylocarpotarsal synostosis syndrome; SCT|SCT|Synspondylism congenital|Synspondylism, congenital|scoliosis, congenital, with unilateral unsegmented Bar|congenital synspondylism|vertebral fusion with carpal coalition|scoliosis, congenital with unilateral unsegmented bar|SCT gard_rare|ordo_malformation_syndrome MONDO:0010097 Tatsumi factor deficiency biolink:Disease mondo OMIM:272650|MESH:C564787|UMLS:C1848931 UMLS:C1848931|http://identifiers.org/omim/272650|MESH:C564787 http://purl.obolibrary.org/obo/MONDO_0010097 Tatsumi factor deficiency MONDO:0010096 tardive dyskinesia (disease) biolink:Disease mondo UMLS:C0686347|SCTID:102449007|HP:0040141|OMIM:272620 SNOMEDCT:102449007|UMLS:C0686347|http://identifiers.org/omim/272620 http://purl.obolibrary.org/obo/MONDO_0010096 tardive dyskinesia MONDO:0024520 renal hypodysplasia/aplasia 3 biolink:Disease mondo OMIM:617805|UMLS:CN703737|EFO:0009137 UMLS:CN703737|http://identifiers.org/omim/617805 http://purl.obolibrary.org/obo/MONDO_0024520 RHDA3|renal hypodysplasia/aplasia 3; RHDA3 MONDO:0000553 uterine corpus endometrial carcinoma biolink:Disease mondo DOID:0050939 A endometrial carcinoma (disease) that involves the body of uterus. DOID:0050939 http://purl.obolibrary.org/obo/MONDO_0000553 endometrial carcinoma (disease) of body of uterus|body of uterus endometrial carcinoma (disease) HGNC:21365 LYRM4 biolink:OntologyClass mondo http://identifiers.org/hgnc/21365 MONDO:0000552 breast lobular carcinoma biolink:Disease mondo EFO:0008509|NCIT:C3771|ICDO:8520/3|DOID:0050938|SCTID:278054005 An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal. NCIT:C3771|DOID:0050938|SNOMEDCT:278054005 http://purl.obolibrary.org/obo/MONDO_0000552 carcinoma of lobule of mammary gland|lobule of mammary gland carcinoma|lobular carcinoma|lobular breast carcinoma|lobular adenocarcinoma|lobular carcinoma of breast|lobular carcinoma of the breast MONDO:0024522 amyloidosis, primary localized cutaneous, 1 biolink:Disease mondo UMLS:C0268398|OMIM:105250 Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene. UMLS:C0268398|http://identifiers.org/omim/105250 http://purl.obolibrary.org/obo/MONDO_0024522 amyloidosis, familial cutaneous lichen|lichen amyloidosis, familial|amyloidosis, primary cutaneous, 1|PCA|amyloidosis 9|PLCA1|amyloidosis, primary localized cutaneous, 1; PLCA1|primary cutaneous amyloidosis caused by mutation in OSMR|OSMR primary cutaneous amyloidosis MONDO:0000551 retroperitoneal neuroblastoma biolink:Disease mondo DOID:0050937 A neuroblastoma that involves the retroperitoneal space. DOID:0050937 http://purl.obolibrary.org/obo/MONDO_0000551 neuroblastoma of retroperitoneal space|retroperitoneal space neuroblastoma MONDO:0000550 extra-adrenal sympathetic paraganglioma biolink:Disease mondo EFO:0000489|NCIT:C48576|UMLS:C1257877|DOID:0050936 A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. NCIT:C48576|DOID:0050936|UMLS:C1257877 http://purl.obolibrary.org/obo/MONDO_0000550 Extra-adrenal Chromaffinoma|Extra-adrenal pheochromocytoma|Extra-adrenal chromaffin neoplasm|Extra-adrenal pheochromocytoma|Extra-adrenal sympathetic paraganglioma|Extra-adrenal Chromaffinoma|Extra-adrenal sympathetic Paraganglionic neoplasm|Extra-adrenal chromaffin neoplasm|extraadrenal pheochromocytoma MONDO:0024521 aortic aneurysm, familial abdominal, 1 biolink:Disease mondo OMIM:100070 http://identifiers.org/omim/100070 http://purl.obolibrary.org/obo/MONDO_0024521 abdominal aortic aneurysm|aortic aneurysm, familial abdominal, 1; AAA1|AAA1|aneurysm, abdominal aortic MONDO:0000557 hereditary ataxia biolink:Disease mondo GARD:0010748|SCTID:763597000|DOID:0050951|ICD10:G11|GARD:0006614|MESH:C531684|Orphanet:183518|NCIT:C140268 Cerebellar ataxia that is transmitted from parent to child. NCIT:C140268|ORPHA:183518|MESH:C531684|DOID:0050951|SNOMEDCT:763597000 http://purl.obolibrary.org/obo/MONDO_0000557 rare hereditary ataxia|hereditary cerebellar ataxia|SCA ordo_group_of_disorders|gard_rare MONDO:0024524 dyschromatosis universalis hereditaria 1 biolink:Disease mondo OMIM:127500|UMLS:C2675711|MESH:C567273 http://identifiers.org/omim/127500|MESH:C567273|UMLS:C2675711 http://purl.obolibrary.org/obo/MONDO_0024524 dyschromatosis universalis hereditaria 1; DUH1|DUH1 MONDO:0024523 aortic valve disease 1 biolink:Disease mondo OMIM:109730|DOID:0080333|UMLS:C3887892 Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene. http://identifiers.org/omim/109730|DOID:0080333|UMLS:C3887892 http://purl.obolibrary.org/obo/MONDO_0024523 aortic valve, calcification of|bicuspid aortic valve|aortic valve disease|NOTCH1 aortic valve disease|Notch1 aortic valve disease|AOVD1|aortic valve disease caused by mutation in NOTCH1|aortic valve disease caused by mutation in Notch1|aortic valve, bicuspid|aortic valve disease 1; AOVD1|aortic stenosis, calcific MONDO:0000556 obsolete autosomal recessive cerebellar ataxia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000556 MONDO:0024526 Zimmermann-Laband syndrome 1 biolink:Disease mondo OMIM:135500|UMLS:CN032818 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene. UMLS:CN032818|http://identifiers.org/omim/135500 http://purl.obolibrary.org/obo/MONDO_0024526 fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly|KCNH1 Zimmermann-Laband syndrome|ZLS1|Zimmermann-Laband syndrome 1; ZLS1|Zimmermann-Laband syndrome caused by mutation in KCNH1|Laband syndrome MONDO:0000555 obsolete autosomal recessive hypophosphatemic rickets biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000555 MONDO:0024525 FRTS1 biolink:Disease mondo OMIM:134600 http://identifiers.org/omim/134600 http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1; FRTS1|Fanconi renotubular syndrome|renal Fanconi syndrome|Luder-Sheldon syndrome|adult Fanconi syndrome|FRTS1|Fanconi syndrome without cystinosis MONDO:0000554 endocervical adenocarcinoma biolink:Disease mondo SCTID:123842006|DOID:0050940|UMLS:C4289591|NCIT:C127907|ONCOTREE:ECAD|UMLS:C1263762 An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei. SNOMEDCT:123842006|DOID:0050940|NCIT:C127907|UMLS:C1263762|UMLS:C4289591 http://purl.obolibrary.org/obo/MONDO_0000554 endocervical adenocarcinoma, usual type|endocervix adenocarcinoma MONDO:0012539 Joubert syndrome 6 biolink:Disease mondo DOID:0111001|OMIM:610688|MESH:C537689|UMLS:C1853153 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene. DOID:0111001|MESH:C537689|http://identifiers.org/omim/610688|UMLS:C1853153 http://purl.obolibrary.org/obo/MONDO_0012539 TMEM67 Joubert syndrome|Joubert syndrome 6|Joubert syndrome type 6|JBTS6|Joubert syndrome caused by mutation in TMEM67|Joubert syndrome 6; JBTS6 clingen MONDO:0012537 SHFLD2 biolink:Disease mondo UMLS:C1853156|OMIM:610685|MESH:C565199 MESH:C565199|http://identifiers.org/omim/610685|UMLS:C1853156 http://purl.obolibrary.org/obo/MONDO_0012537 SHFLD2|split-hand/foot malformation with long bone deficiency 2; SHFLD2|split-hand/foot malformation with long bone deficiency 2 MONDO:0012538 nemaline myopathy 7 biolink:Disease mondo OMIM:610687|DOID:0110934|UMLS:C1853154|MESH:C565198 Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene. MESH:C565198|http://identifiers.org/omim/610687|UMLS:C1853154|DOID:0110934 http://purl.obolibrary.org/obo/MONDO_0012538 CFL2 nemaline myopathy|nemaline myopathy 7; NEM7|nemaline myopathy type 7|nemaline myopathy 7, autosomal recessive|nemaline myopathy caused by mutation in CFL2|nemaline myopathy 7|NEM7 MONDO:0012542 PSORS8 biolink:Disease mondo OMIM:610707 http://identifiers.org/omim/610707 http://purl.obolibrary.org/obo/MONDO_0012542 PSORS8|psoriasis 8, susceptibility to; PSORS8|psoriasis 8, susceptibility to HGNC:4056 G6PC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4056 MONDO:0012543 optic atrophy 5 biolink:Disease mondo GARD:0010201|UMLS:C1853139|OMIM:610708|MESH:C537126 MESH:C537126|http://identifiers.org/omim/610708|UMLS:C1853139 http://purl.obolibrary.org/obo/MONDO_0012543 OPA5|optic atrophy 5; OPA5|optic atrophy 5 MONDO:0036511 childhood malignant kidney neoplasm biolink:Disease mondo NCIT:C123907|UMLS:C4086162 A malignant neoplasm that affects the kidney and occurs in childhood. NCIT:C123907|UMLS:C4086162 http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant renal neoplasm|pediatric kidney cancer|pediatric kidney cancer|childhood malignant kidney tumor|childhood malignant kidney neoplasm|childhood kidney cancer|kidney cancer of childhood|childhood malignant renal tumor MONDO:0012540 age related macular degeneration 4 biolink:Disease mondo OMIM:610698|UMLS:C1853147|DOID:0110017|MESH:C565196 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene. MESH:C565196|DOID:0110017|http://identifiers.org/omim/610698|UMLS:C1853147 http://purl.obolibrary.org/obo/MONDO_0012540 macular degeneration, age-related, 4; ARMD4|ARMD4|age-related macular degeneration caused by mutation in CFH|CFH age-related macular degeneration|age related macular degeneration type 4|macular degeneration, age-related, 4|macular Degeneration, age-related, type 4 MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia biolink:Disease mondo UMLS:C1853144|SCTID:702360007|Orphanet:90024|OMIM:610706|ICD10:Q16.5|GARD:0010707|ICD9:759.89|MESH:C565195 Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. SNOMEDCT:702360007|ORPHA:90024|MESH:C548011|MESH:C565195|http://identifiers.org/omim/610706|UMLS:C1853144|UMLS:C2932664 http://purl.obolibrary.org/obo/MONDO_0012541 deafness congenital with inner ear agenesis microtia and microdontia|deafness with labyrinthine aplasia microtia and microdontia (LAMM)|congenital deafness with inner ear agenesis microtia and microdontia|deafness with Lamm|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|microdontia-type I microtia-deafness syndrome|LAMM syndrome|deafness, congenital, with inner EAR agenesis, microtia, and microdontia ordo_malformation_syndrome HGNC:4053 ISG15 biolink:OntologyClass mondo http://identifiers.org/hgnc/4053 MONDO:0012546 nephrotic syndrome, type 3 biolink:Disease mondo OMIM:610725|UMLS:C1853124 Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. http://identifiers.org/omim/610725|UMLS:C1853124 http://purl.obolibrary.org/obo/MONDO_0012546 nephrotic syndrome, early-onset, type 3|NPHS3|nephrotic syndrome, type 3; NPHS3|nephrotic syndrome, type 3|nephrotic syndrome caused by mutation in PLCE1|PLCE1 nephrotic syndrome MONDO:0012547 Noonan syndrome 4 biolink:Disease mondo OMIM:610733|GARD:0010699|MESH:C548082|UMLS:C1853120|DOID:0060582 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. MESH:C548082|http://identifiers.org/omim/610733|UMLS:C1853120|DOID:0060582 http://purl.obolibrary.org/obo/MONDO_0012547 NS4|Noonan syndrome 4; NS4|Noonan syndrome type 4|Noonan syndrome caused by mutation in SOS1|SOS1 gene related Noonan syndrome|Noonan syndrome 4|SOS1 Noonan syndrome gard_rare MONDO:0012544 brachydactyly-syndactyly syndrome biolink:Disease mondo DOID:0050689|UMLS:C1853137|ICD10:Q73.8|OMIM:610713|Orphanet:93409|MESH:C565193 Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. MESH:C565193|DOID:0050689|http://identifiers.org/omim/610713|UMLS:C1853137|ORPHA:93409 http://purl.obolibrary.org/obo/MONDO_0012544 Bdsd|brachydactyly-syndactyly syndrome; BDSD|brachydactyly-syndactyly, Zhao type|brachydactyly-syndactyly syndrome|brachydactyly-syndactyly-oligodactyly syndrome ordo_malformation_syndrome MONDO:0012545 neutral lipid storage myopathy biolink:Disease mondo SCTID:699315005|ICD10:E75.5|OMIM:610717|GARD:0010288|Orphanet:98908 SNOMEDCT:699315005|ORPHA:98908|http://identifiers.org/omim/610717 http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage disease with myopathy; NLSDM|neutral lipid storage disease without ichthyosis|neutral lipid storage disease with myopathy|NLSDM|neutral lipid storage disease with myopathy without ichthyosis|triglyceride deposit cardiomyovasculopathy ordo_disease MONDO:0024517 schwannomatosis 1 biolink:Disease mondo OMIM:162091|UMLS:C4048809 http://identifiers.org/omim/162091|UMLS:C4048809 http://purl.obolibrary.org/obo/MONDO_0024517 SCHWANNOMATOSIS 1; SWNTS1|neurilemmomatosis, congenital cutaneous|SWNTS1 MONDO:0024516 familial acne inversa biolink:Disease mondo OMIMPS:142690 An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0024516 hereditary hidradenitis suppurativa|ACNINV|familial hidradenitis suppurativa MONDO:0000549 cervical neuroblastoma biolink:Disease mondo DOID:0050935 A relatively uncommon neuroblastoma that is found in the neck. DOID:0050935 http://purl.obolibrary.org/obo/MONDO_0000549 neck neuroblastoma|neuroblastoma of neck MONDO:0024519 renal hypodysplasia/aplasia 1 biolink:Disease mondo GARD:0004791|OMIM:191830 http://identifiers.org/omim/191830 http://purl.obolibrary.org/obo/MONDO_0024519 RHDA1|renal agenesis|renal aplasia|renal adysplasia|Selig Benacerraf Greene syndrome|renal dysplasia, megalocystis, and sirenomelia|renal hypodysplasia/aplasia 1; RHDA1|hereditary renal aplasia MONDO:0000548 ovarian clear cell cancer biolink:Disease mondo NCIT:C40077|DOID:0050934|UMLS:C1518230 An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells. NCIT:C40077|DOID:0050934|UMLS:C1518230 http://purl.obolibrary.org/obo/MONDO_0000548 ovarian clear cell carcinoma|malignant ovarian clear cell neoplasm|clear-cell ovarian carcinoma|malignant ovarian clear cell tumor MONDO:0024518 reactive thrombocytosis biolink:Disease mondo ICD9:286.9|UMLS:C0457506|SCTID:234500001 A thrombocytosis caused by an underlying condition, such as an infection. SNOMEDCT:234500001|UMLS:C0457506 http://purl.obolibrary.org/obo/MONDO_0024518 secondary thrombocytosis UBERON:0008188 tendon of biceps brachii biolink:AnatomicalEntity mondo A tendon that attaches_to a biceps brachii. http://purl.obolibrary.org/obo/UBERON_0008188 biceps brachii tendon|tendon of biceps brachii muscle MONDO:0000547 obsolete ovarian serous carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000547 HGNC:4057 G6PD biolink:OntologyClass mondo http://identifiers.org/hgnc/4057 MONDO:0000564 obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000564 MONDO:0000563 GRID2-related autosomal dominant spinocerebellar ataxia biolink:Disease mondo DOID:0050988 DOID:0050988 http://purl.obolibrary.org/obo/MONDO_0000563 GRID2-related spinocerebellar ataxia ENVO:00005800 desert sand biolink:OntologyClass mondo Sand which is part of a desert. http://purl.obolibrary.org/obo/ENVO_00005800 MONDO:0000562 obsolete hypomyelinating leukoencephalopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000562 MONDO:0000561 spinocerebellar ataxia type 16 biolink:Disease mondo Orphanet:98770|UMLS:CN229296|NCIT:C150250|DOID:0050966 An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP. NCIT:C150250|ORPHA:98770|DOID:0050966|UMLS:CN229296 http://purl.obolibrary.org/obo/MONDO_0000561 SCAR16 MONDO:0000568 autoimmune disease of central nervous system biolink:Disease mondo DOID:0060004 A hypersensitivity reaction type II disease that involves the central nervous system. DOID:0060004 http://purl.obolibrary.org/obo/MONDO_0000568 central nervous system autoimmune disease|central nervous system hypersensitivity reaction type II disease MONDO:0024512 spondyloarthropathy, susceptibility to biolink:Disease mondo UMLS:CN118840|OMIMPS:106300 UMLS:CN118840 http://purl.obolibrary.org/obo/MONDO_0024512 SPDA predisposition MONDO:0000567 obsolete C1 inhibitor deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000567 MONDO:0000566 obsolete substance withdrawal disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000566 MONDO:0000565 infective endocarditis biolink:Disease mondo SCTID:233850007|NCIT:C78265|ICD9:136.9|GARD:0006337|DOID:0060000 Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue. DOID:0060000|SNOMEDCT:233850007|NCIT:C78265 http://purl.obolibrary.org/obo/MONDO_0000565 endocarditis, infective|endocarditis infective gard_rare MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia biolink:Disease mondo ICD10:E23.0|UMLS:C3552343|DOID:0090077|OMIM:610628|GARD:0010772|MESH:C565696 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene. UMLS:C3552343|MESH:C565696|DOID:0090077|http://identifiers.org/omim/610628 http://purl.obolibrary.org/obo/MONDO_0012528 PROK2 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in PROK2|Kallman syndrome 4|hypogonadotropic hypogonadism 4 with or without anosmia|KAL4|hypogonadotropic hypogonadism 4 with or without anosmia; HH4|HH4|Kallmann syndrome 4 gard_rare MONDO:0012529 Diamond-Blackfan anemia 3 biolink:Disease mondo GARD:0010241|MESH:C536355|OMIM:610629|UMLS:C1857719 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene. UMLS:C1857719|MESH:C536355|http://identifiers.org/omim/610629 http://purl.obolibrary.org/obo/MONDO_0012529 Diamond-Blackfan anemia 3; DBA3|RPS24 Diamond-Blackfan anemia|DBA3|Diamond-Blackfan Anemia type 3|Diamond-Blackfan anemia 3|Diamond-Blackfan anemia caused by mutation in RPS24|anemia Diamond-Blackfan 3 gard_rare MONDO:0012526 hereditary angioedema type 3 biolink:Disease mondo Orphanet:100054|ICD10:D84.1|ICD9:277.6|MESH:D056828|OMIM:610618|SCTID:427167008 Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. SNOMEDCT:427167008|UMLS:C1960459|ORPHA:100054|UMLS:C1857728|MESH:D056828|http://identifiers.org/omim/610618 http://purl.obolibrary.org/obo/MONDO_0012526 inherited estrogen-associated angioedema|HAE3|HAE-III|angioedema, hereditary, type III; HAE3|hereditary angioneurotic edema type 3|hereditary angioedema with normal C1 inhibitor activity|Hae with normal C1 inhibitor concentration and function|angioedema, hereditary, type 3|angioedema, hereditary, type III|inherited estrogen-dependent angioedema|estrogen-related Hae|F12 hereditary angioedema|inherited estrogen-dependent angioneurotic edema|HAE 3|estrogen-sensitive Hae|hereditary angioedema caused by mutation in F12|inherited estrogen-associated angioneurotic edema|Hae 3|angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function ordo_etiological_subtype HP:0001735 Acute pancreatitis biolink:PhenotypicFeature mondo SNOMEDCT_US:197456007|UMLS:C0001339 A acute form of pancreatitis. http://purl.obolibrary.org/obo/HP_0001735 Pancreatitis, acute|Acute pancreatic inflammation MONDO:0012527 cataract 11 multiple types biolink:Disease mondo OMIM:610623|GARD:0010228|ICD10:Q12.0|DOID:0110249|MESH:C535344 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene. MESH:C535344|DOID:0110249|http://identifiers.org/omim/610623 http://purl.obolibrary.org/obo/MONDO_0012527 PITX3 early-onset non-syndromic cataract|posterior polar cataract 4|cataract, posterior polar, 4|CTPP4|Posterior polar cataract, 4|Cpp4|CPP4|cataract 11 with microphthalmia and neurodevelopmental abnormalities|early-onset non-syndromic cataract caused by mutation in PITX3|cataract 11, multiple types|cataract 11, multiple types; CTRCT11|CTRCT11 MONDO:0000560 obsolete spinocerebellar ataxia type 4 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000560 MONDO:0012531 xeroderma pigmentosum group B biolink:Disease mondo Orphanet:276252|UMLS:C0268136|GARD:0005625|OMIM:610651|ICD10:Q82.1|MESH:C562590|DOID:0110850|NCIT:C3966|SCTID:1073003 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene. NCIT:C3966|SNOMEDCT:1073003|http://identifiers.org/omim/610651|DOID:0110850|ORPHA:276252|MESH:C562590|UMLS:C0268136 http://purl.obolibrary.org/obo/MONDO_0012531 xeroderma pigmentosum, complementation group type B|ERCC3 xeroderma pigmentosum|xeroderma pigmentosum, complementation group B; XPB|XP, Group B|XPBC|xeroderma pigmentosum caused by mutation in ERCC3|XP-B|XPB/CS|xeroderma pigmentosum B/Cockayne syndrome|XP group B|xeroderma pigmentosum, complementation group B|xeroderma pigmentosum group type B|XPB|xeroderma pigmentosum, type 2 gard_rare MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 biolink:Disease mondo GARD:0010615|OMIM:610655|MESH:C565691 MESH:C565691|http://identifiers.org/omim/610655 http://purl.obolibrary.org/obo/MONDO_0012532 telangiectasia, hereditary hemorrhagic, type 4; HHT4|HHT4|telangiectasia, hereditary hemorrhagic, type 4 gard_rare HGNC:4065 GAA biolink:OntologyClass mondo http://identifiers.org/hgnc/4065 MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome biolink:Disease mondo OMIM:610644|Orphanet:85112|MESH:C567165|ICD10:Q56.0 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. MESH:C567165|ORPHA:85112|http://identifiers.org/omim/610644 http://purl.obolibrary.org/obo/MONDO_0012530 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal|palmoplantar hyperkeratosis and true hermaphroditism|palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome ordo_disease HP:0001732 Abnormality of the pancreas biolink:PhenotypicFeature mondo SNOMEDCT_US:3855007|UMLS:C4025751|UMLS:C0030286|MSH:D010182 An abnormality of the pancreas. http://purl.obolibrary.org/obo/HP_0001732 Pancreatic disease|Abnormality of the pancreas MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis biolink:Disease mondo UMLS:C1853187|MESH:C538328|GARD:0010055|OMIM:610680 MESH:C538328|http://identifiers.org/omim/610680|UMLS:C1853187 http://purl.obolibrary.org/obo/MONDO_0012535 holoprosencephaly, recurrent infections, and monocytosis gard_rare HP:0001733 Pancreatitis biolink:PhenotypicFeature mondo MSH:D010195|SNOMEDCT_US:75694006|UMLS:C0030305 The presence of inflammation in the pancreas. http://purl.obolibrary.org/obo/HP_0001733 Pancreatic inflammation MONDO:0012536 osteogenesis imperfecta type 7 biolink:Disease mondo SCTID:254111008|ICD10:Q78.0|UMLS:C1853162|OMIM:610682|DOID:0110337|GARD:0008701 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene. SNOMEDCT:254111008|DOID:0110337|http://identifiers.org/omim/610682|UMLS:C1853162 http://purl.obolibrary.org/obo/MONDO_0012536 osteogenesis imperfecta, type IIb, formerly|osteogenesis imperfecta caused by mutation in CRTAP|osteogenesis imperfecta, type VII; OI7|osteogenesis imperfecta, type IIb|osteogenesis imperfecta type VII|osteogenesis imperfecta, type VII|OI type 7|OI type VII|OI7|CRTAP osteogenesis imperfecta|osteogenesis imperfecta, type 7|OI, type 7 MONDO:0012533 AUTS7 biolink:Disease mondo OMIM:610676 http://identifiers.org/omim/610676 http://purl.obolibrary.org/obo/MONDO_0012533 AUTS7|autism, susceptibility to, 7; AUTS7|autism, susceptibility to, 7 predisposition HGNC:4061 SLC37A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/4061 MONDO:0012534 combined oxidative phosphorylation defect type 4 biolink:Disease mondo UMLS:C1857682|SCTID:766876004|Orphanet:254925|OMIM:610678|MESH:C565690|ICD10:E88.8 Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. UMLS:C1857682|MESH:C565690|http://identifiers.org/omim/610678|ORPHA:254925|SNOMEDCT:766876004 http://purl.obolibrary.org/obo/MONDO_0012534 combined oxidative phosphorylation deficiency 4; COXPD4|combined oxidative phosphorylation deficiency caused by mutation in TUFM|COXPD4|combined oxidative phosphorylation deficiency type 4|TUFM combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 4 ordo_disease MONDO:0024506 Adams-Oliver syndrome 1 biolink:Disease mondo OMIM:100300|UMLS:CN028867 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene. http://identifiers.org/omim/100300|UMLS:CN028867 http://purl.obolibrary.org/obo/MONDO_0024506 aplasia cutis congenita with terminal transverse limb defects|ARHGAP31 Adams-Oliver syndrome|absence defect of limbs, scalp, and skull|Adams-Oliver syndrome 1; AOS1|Adams-Oliver syndrome caused by mutation in ARHGAP31|AOS|congenital scalp defects with distal limb reduction anomalies|AOS1|aplasia cutis congenita, congenital heart defect, and frontonasal cysts MONDO:0024505 disorder by anatomical region biolink:Disease mondo UMLS:C1290853|SCTID:123946008 A broad grouping of diseases based on major body subdivisions. UMLS:C1290853|SNOMEDCT:123946008 http://purl.obolibrary.org/obo/MONDO_0024505 disease by body site|disorder of anatomical|disorder by body site|disorder of organism subdivision|disease of organism subdivision metaclass MONDO:0000559 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000559 MONDO:0024508 epilepsy, hot water, 1 biolink:Disease mondo OMIM:613339 http://identifiers.org/omim/613339 http://purl.obolibrary.org/obo/MONDO_0024508 HWE1|epilepsy, hot water, 1; HWE1|bathing epilepsy|water immersion epilepsy|epilepsy, hot water, 1 MONDO:0000558 obsolete spastic ataxia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000558 MONDO:0024507 aniridia 1 biolink:Disease mondo OMIM:106210|SCTID:253231007 SNOMEDCT:253231007|http://identifiers.org/omim/106210 http://purl.obolibrary.org/obo/MONDO_0024507 AN1|aniridia 1; AN1|aniridia II, formerly|aniridia II|cataract, congenital, with late-onset corneal dystrophy MONDO:0000531 bronchus mucoepidermoid carcinoma biolink:Disease mondo DOID:0050916 A mucoepidermoid carcinoma that involves the bronchus. DOID:0050916 http://purl.obolibrary.org/obo/MONDO_0000531 bronchus mucoepidermoid carcinoma MONDO:0000530 rectum adenoma biolink:Disease mondo DOID:0050915|UMLS:C1302652|NCIT:C5546|SCTID:399730005 An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. UMLS:C1302652|SNOMEDCT:399730005|DOID:0050915|NCIT:C5546 http://purl.obolibrary.org/obo/MONDO_0000530 rectum adenoma|adenoma of rectum|adenoma of the rectum|rectal adenoma MONDO:0024500 duodenal neuroendocrine neoplasm biolink:Disease mondo A neuroendocrine neoplasm that involves the duodenum. http://purl.obolibrary.org/obo/MONDO_0024500 duodenum neuroendocrine tumor|duodenum neuroendocrine neoplasm|duodenum neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of duodenum|duodenum neuroendocrine tumor|duodenum NET MONDO:0024502 gallbladder neuroendocrine neoplasm biolink:Disease mondo UMLS:C3273115|NCIT:C96917 A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). NCIT:C96917|UMLS:C3273115 http://purl.obolibrary.org/obo/MONDO_0024502 gall bladder neuroendocrine tumor|gallbladder neuroendocrine neoplasm|gall bladder neuroendocrine neoplasm|gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade|gall bladder neuroendocrine tumor|gall bladder NET|neuroendocrine neoplasm of gall bladder MONDO:0000535 tonsil squamous cell carcinoma biolink:Disease mondo DOID:0050920 A squamous cell carcinoma that involves the tonsil. DOID:0050920 http://purl.obolibrary.org/obo/MONDO_0000535 tonsil squamous cell carcinoma MONDO:0024501 appendix neuroendocrine neoplasm biolink:Disease mondo NCIT:C60709 A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). NCIT:C60709 http://purl.obolibrary.org/obo/MONDO_0024501 vermiform appendix NET|neuroendocrine neoplasm of vermiform appendix|appendix neuroendocrine neoplasm|vermiform appendix neuroendocrine tumor|vermiform appendix neuroendocrine neoplasm|vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade|vermiform appendix neuroendocrine tumor MONDO:0000534 trachea mucoepidermoid carcinoma biolink:Disease mondo SCTID:707379000|UMLS:C3873401|DOID:0050919 A mucoepidermoid carcinoma that involves the trachea. SNOMEDCT:707379000|UMLS:C3873401|DOID:0050919 http://purl.obolibrary.org/obo/MONDO_0000534 trachea mucoepidermoid carcinoma MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor biolink:Disease mondo Orphanet:506090|NCIT:C4446 A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome. ORPHA:506090|NCIT:C4446 http://purl.obolibrary.org/obo/MONDO_0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor|carcinoid neoplasm of the pancreas|serotonin-producing neuroendocrine tumor of pancreas|serotonin-producing PNET|serotonin-producing pancreatic neuroendocrine tumor|serotonin-producing tumor of pancreas|pancreatic serotonin producing tumor|pancreatic carcinoid tumor|pancreatic serotonin producing neoplasm|serotonin-producing tumor of the pancreas|carcinoid tumor of pancreas|EC cell, serotonin producing pancreatic neuroendocrine tumor|carcinoid tumor of the pancreas|serotonin-producing pancreatic NET|carcinoid neoplasm of pancreas|EC cell, serotonin producing pancreatic NET ordo_disease MONDO:0000533 obsolete vaginal carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000533 MONDO:0024503 digestive system neuroendocrine neoplasm biolink:Disease mondo MESH:C535650|Orphanet:100092|GARD:0002437|NCIT:C27721|UMLS:CN197371 A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas). NCIT:C27721|UMLS:CN197371|ORPHA:100092|MESH:C535650 http://purl.obolibrary.org/obo/MONDO_0024503 carcinoid tumor|digestive system neuroendocrine tumor, well differentiated, low or intermediate grade|alimentary part of gastrointestinal system neuroendocrine neoplasm|gastroenteropancreatic endocrine tumor|GEP tumors|alimentary part of gastrointestinal system neuroendocrine tumor|carcinoid tumor of digestive system|gastroenteropancreatic neuroendocrine neoplasm|GEP-NET|alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade|alimentary part of gastrointestinal system NET|alimentary part of gastrointestinal system neuroendocrine tumor|digestive system neuroendocrine neoplasm|neuroendocrine neoplasm of alimentary part of gastrointestinal system|neuroendocrine neoplasm of digestive system|GEP-NEN|digestive system NET|gastrointestinal system neuroendocrine neoplasm|gastrointestinal neuroendocrine neoplasm|gastro-enteropancreatic neuroendocrine tumor|digestive system neuroendocrine tumor gard_rare|ordo_group_of_disorders MONDO:0000532 lung combined type small cell adenocarcinoma biolink:Disease mondo DOID:0050917 A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin. DOID:0050917 http://purl.obolibrary.org/obo/MONDO_0000532 MONDO:0012517 atypical Gaucher disease due to saposin C deficiency biolink:Disease mondo OMIM:610539|DOID:0110961|Orphanet:309252|UMLS:C1864651|ICD10:E75.2|MESH:C566435|GARD:0012503 Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. ORPHA:309252|DOID:0110961|UMLS:C1864651|MESH:C566435|http://identifiers.org/omim/610539 http://purl.obolibrary.org/obo/MONDO_0012517 atypical Gaucher's disease due to saposin c deficiency|atypical Gaucher disease due to saposin C deficiency|PSAP Gaucher disease|Gaucher disease, atypical, due to saposin C deficiency|Gaucher disease caused by mutation in PSAP|Gaucher disease, atypical ordo_clinical_subtype MONDO:0012518 congenital myasthenic syndrome 12 biolink:Disease mondo OMIM:610542|DOID:0110660 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene. DOID:0110660|http://identifiers.org/omim/610542 http://purl.obolibrary.org/obo/MONDO_0012518 congenital myasthenia 12 with tubular aggregates|myasthenic syndrome, congenital, 12|GFPT1 congenital myasthenic syndromes with glycosylation defect|CMS12|congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1|myasthenic syndrome, congenital, with tubular aggregates 1|congenital myasthenic syndrome type 12|myasthenic syndrome, congenital, 12; CMS12|myasthenic syndrome, congenital, type 12 MONDO:0012515 GLC1M biolink:Disease mondo OMIM:610535|UMLS:C1864653|MESH:C566436 UMLS:C1864653|MESH:C566436|http://identifiers.org/omim/610535 http://purl.obolibrary.org/obo/MONDO_0012515 glaucoma 1, open angle, M|GLC1M|glaucoma 1, open angle, M; GLC1M|JOAG1M MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome biolink:Disease mondo DOID:0080196|Orphanet:79113|UMLS:C1864652|ICD10:Q87.0|SCTID:711543008|GARD:0010056|OMIM:610536|MESH:C537405 Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability. UMLS:C1864652|SNOMEDCT:711543008|DOID:0080196|MESH:C537405|ORPHA:79113|http://identifiers.org/omim/610536 http://purl.obolibrary.org/obo/MONDO_0012516 mandibulofacial dysostosis with microcephaly|MFDM|Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome|Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate|mandibulofacial dysostosis, Guion-Almeida type; MFDGA|MFDM syndrome|Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mandibulofacial dysostosis, Guion-Almeida type|MFDGA|Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate ordo_malformation_syndrome HP:0001702 Abnormal tricuspid valve morphology biolink:PhenotypicFeature mondo UMLS:C4025753|EPCC:06.01.00 Any structural anomaly of the tricuspid valve. http://purl.obolibrary.org/obo/HP_0001702 Abnormality of the tricuspid valve MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion biolink:Disease mondo OMIM:610543|UMLS:C1864648|GARD:0010754|Orphanet:353281|ICD10:Q87.2 Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. http://identifiers.org/omim/610543|ORPHA:353281|UMLS:C1864648 http://purl.obolibrary.org/obo/MONDO_0012519 Rsts deletion syndrome|16p13.3 deletion syndrome|Rubinstein-Taybi deletion syndrome|chromosome 16p13.3 deletion syndrome, proximal gard_rare|ordo_clinical_subtype NCBITaxon:1891714 Betapolyomavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1891714 MONDO:0012520 insulin-resistance syndrome type A biolink:Disease mondo EFO:1001503|MESH:C562710|GARD:0003008|NCIT:C131836|Orphanet:2297|ICD10:E13|OMIM:610549 Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight. MESH:C562710|ORPHA:2297|UMLS:C0342336|http://identifiers.org/omim/610549|NCIT:C131836 http://purl.obolibrary.org/obo/MONDO_0012520 Iran, type a|diabetes mellitus, insulin-resistant, with acanthosis nigricans|diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin-resistant acanthosis nigricans, type A|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism|type A insulin resistance syndrome ordo_disease MONDO:0012521 herpes simplex encephalitis biolink:Disease mondo NCIT:C84762|ICD10:G05.1*|GARD:0006649|MESH:D020803|Orphanet:1930|ICD10:B00.4+ Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. NCIT:C84762|MESH:D020803|ORPHA:1930 http://purl.obolibrary.org/obo/MONDO_0012521 Herpes simplex meningo-encephalitis|HSV encephalitis|Simplexvirus infectious encephalitis|Simplexvirus caused infectious encephalitis|HSE|Herpes simplex virus encephalitis|HSVE|Herpes simplex neuroinvasion|herpetic encephalitis ordo_disease|gard_rare HGNC:4076 GABRA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4076 HGNC:4075 GABRA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4075 MONDO:0012524 corticosterone methyloxidase type 2 deficiency biolink:Disease mondo UMLS:C3463917|OMIM:610600 http://identifiers.org/omim/610600|UMLS:C3463917 http://purl.obolibrary.org/obo/MONDO_0012524 hyperreninemic hypoaldosteronism, familial, 1|Cmo 2 deficiency|corticosterone methyloxidase type II deficiency|18-oxidase deficiency|aldosterone deficiency due to deficiency of steroid 18-oxidase|steroid 18-oxidase deficiency|aldosterone deficiency 2 HP:0001700 Myocardial necrosis biolink:PhenotypicFeature mondo SNOMEDCT_US:251061000|UMLS:C1442837 Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). http://purl.obolibrary.org/obo/HP_0001700 MONDO:0012525 Leber congenital amaurosis 12 biolink:Disease mondo OMIM:610612|ICD10:H35.5|GARD:0010489|MESH:C565697|DOID:0110080 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene. DOID:0110080|MESH:C565697|http://identifiers.org/omim/610612 http://purl.obolibrary.org/obo/MONDO_0012525 RD3 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in RD3|Leber congenital amaurosis 12; LCA12|LCA12|Leber congenital amaurosis 12|amaurosis congenita of Leber, type 12|Leber congenital amaurosis type 12 gard_rare MONDO:0012522 diabetes mellitus, transient neonatal, 3 biolink:Disease mondo SCTID:609581006|OMIM:610582 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene. SNOMEDCT:609581006|http://identifiers.org/omim/610582 http://purl.obolibrary.org/obo/MONDO_0012522 diabetes mellitus, type II, autosomal dominant|diabetes mellitus, transient neonatal, 3|diabetes mellitus, transient neonatal, type 3|transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11|Tndm3|KCNJ11 transient neonatal diabetes mellitus (disease) MONDO:0012523 retinitis pigmentosa 36 biolink:Disease mondo OMIM:610599|UMLS:C1864621|GARD:0010403|ICD10:H35.5|DOID:0110405|MESH:C566431 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene. UMLS:C1864621|MESH:C566431|http://identifiers.org/omim/610599|DOID:0110405 http://purl.obolibrary.org/obo/MONDO_0012523 retinitis pigmentosa 36; RP36|RP 36|retinitis pigmentosa type 36|retinitis pigmentosa caused by mutation in PRCD|retinitis pigmentosa 36|PRCD retinitis pigmentosa|RP36 gard_rare MONDO:0000528 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000528 MONDO:0000527 colon adenoma biolink:Disease mondo NCIT:C3864|DOID:0050912|UMLS:C0850572 An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. DOID:0050912|UMLS:C0850572|NCIT:C3864 http://purl.obolibrary.org/obo/MONDO_0000527 adenoma of the colon|colonic adenoma|adenoma of colon|colon adenoma MONDO:0000526 obsolete appendix carcinoid tumor biolink:Disease mondo A carcinoid tumor (disease) that involves the vermiform appendix. http://purl.obolibrary.org/obo/MONDO_0000526 MONDO:0000525 cecum villous adenoma biolink:Disease mondo UMLS:C1332869|DOID:0050910|NCIT:C5520|EFO:1000155 A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. NCIT:C5520|UMLS:C1332869|DOID:0050910 http://purl.obolibrary.org/obo/MONDO_0000525 villous adenoma of the cecum|villous adenoma of cecum|caecum villous adenoma|cecal villous adenoma|cecum villous adenoma|caecum adenoma|cecum adenoma MONDO:0000529 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000529 MONDO:0000542 obsolete duodenum adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000542 MONDO:0000541 jejunal adenocarcinoma (disease) biolink:Disease mondo UMLS:C4072935|HP:0030411|DOID:0050926 A adenocarcinoma that involves the jejunum. DOID:0050926|UMLS:C4072935 http://purl.obolibrary.org/obo/MONDO_0000541 jejunal adenocarcinoma|jejunum adenocarcinoma MONDO:0000540 small intestinal neuroendocrine tumor G1 biolink:Disease mondo SCTID:276818002|UMLS:C0349536|COHD:198100|NCIT:C4638|DOID:0050925 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. NCIT:C4638|DOID:0050925|UMLS:C0349536|SNOMEDCT:276818002 http://purl.obolibrary.org/obo/MONDO_0000540 small intestine neuroendocrine neoplasm G1|carcinoid tumor of the small intestine|small intestine carcinoid tumor|carcinoid tumor of small intestine|small intestine NET G1|small bowel carcinoid tumor|small intestinal NET G1|small intestine carcinoid tumor|small intestine carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of small intestine|carcinoid tumor of the small bowel|carcinoid tumor of small bowel|small intestine neuroendocrine tumor, well differentiated, low grade|small intestine carcinoid neuroendocrine tumor|small intestinal neuroendocrine tumor G1|small intestinal carcinoid tumor MONDO:0000546 obsolete parotid gland adenoid cystic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000546 MONDO:0000545 sublingual gland adenoid cystic carcinoma biolink:Disease mondo DOID:0050930 A adenoid cystic carcinoma that involves the sublingual gland. DOID:0050930 http://purl.obolibrary.org/obo/MONDO_0000545 sublingual gland adenoid cystic carcinoma MONDO:0000544 mucosal melanoma biolink:Disease mondo UMLS:C3898222|NCIT:C114828|DOID:0050929 A melanoma that arises from a mucosal site. UMLS:C3898222|DOID:0050929|NCIT:C114828 http://purl.obolibrary.org/obo/MONDO_0000544 mucosal melanoma MONDO:0000543 ovarian melanoma biolink:Disease mondo DOID:0050928 A melanoma (disease) that involves the ovary. DOID:0050928 http://purl.obolibrary.org/obo/MONDO_0000543 ovary metastatic melanoma|melanoma (disease) of ovary|ovary melanoma (disease)|metastatic melanoma of ovary MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 biolink:Disease mondo ICD10:I42.8|MESH:C566471|OMIM:610476|DOID:0110082 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene. DOID:0110082|http://identifiers.org/omim/610476|MESH:C566471 http://purl.obolibrary.org/obo/MONDO_0012506 arrhythmogenic right ventricular dysplasia, familial, type 11|arrhythmogenic right ventricular dysplasia type 11|ARVC11|arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair|familial arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia, familial, 11|ARVD11|DSC2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair|arrhythmogenic right ventricular dysplasia, familial, 11; ARVD11|arrhythmogenic right ventricular cardiomyopathy 11|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2 HGNC:4081 GABRB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4081 MONDO:0012507 retinal cone dystrophy 4 biolink:Disease mondo GARD:0010650|UMLS:C1864849|MESH:C566470|OMIM:610478 Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene. http://identifiers.org/omim/610478|UMLS:C1864849|MESH:C566470 http://purl.obolibrary.org/obo/MONDO_0012507 retinal cone dystrophy 4; RCD4|retinal cone dystrophy type 4|RCD4|retinal cone dystrophy 4|CACNA2D4 cone dystrophy|cone dystrophy caused by mutation in CACNA2D4 gard_rare MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome biolink:Disease mondo ICD10:Q87.2|Orphanet:85164|OMIM:610474|DOID:0111160|UMLS:C1864852|MESH:C537975|GARD:0010012 Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. UMLS:C1864852|ORPHA:85164|DOID:0111160|MESH:C537975|http://identifiers.org/omim/610474 http://purl.obolibrary.org/obo/MONDO_0012504 camptodactyly, tall stature, and hearing loss syndrome|CATSHLS|CATSHL syndrome|camptodactyly, tall stature, and hearing loss syndrome; CATSHLS ordo_disease|gard_rare MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 biolink:Disease mondo MESH:C566472|UMLS:C1864851|OMIM:610475 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene. http://identifiers.org/omim/610475|UMLS:C1864851|MESH:C566472 http://purl.obolibrary.org/obo/MONDO_0012505 pigmented nodular adrenocortical disease, primary, 2; PPNAD2|pigmented nodular adrenocortical disease, primary, type 2|PDE11A primary pigmented nodular adrenocortical disease|primary pigmented nodular adrenocortical disease caused by mutation in PDE11A|PPNAD2|pigmented nodular adrenocortical disease, primary, 2|Cushing syndrome, adrenal, due to PPNAD2|pigmented micronodular adrenocortical disease, primary, 2 HP:0001718 Mitral stenosis biolink:PhenotypicFeature mondo SNOMEDCT_US:79619009|MSH:D008946|ICD-10:Q23.2|EPCC:06.02.92|UMLS:C0026269|Fyler:1511 An abnormal narrowing of the orifice of the mitral valve. http://purl.obolibrary.org/obo/HP_0001718 Mitral valve stenosis HGNC:21350 PDHX biolink:OntologyClass mondo http://identifiers.org/hgnc/21350 MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome biolink:Disease mondo OMIM:610483|GARD:0010011|SCTID:722281001|ICD10:Q87.0|MESH:C538055|Orphanet:83617|UMLS:C1864848 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. http://identifiers.org/omim/610483|ORPHA:83617|SNOMEDCT:722281001|UMLS:C1864848|MESH:C538055 http://purl.obolibrary.org/obo/MONDO_0012508 agammaglobulinemia, microcephaly, and severe dermatitis ordo_malformation_syndrome MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 biolink:Disease mondo OMIM:610489|MESH:C566469 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene. http://identifiers.org/omim/610489|MESH:C566469 http://purl.obolibrary.org/obo/MONDO_0012509 PRKAR1A primary pigmented nodular adrenocortical disease|primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A|pigmented micronodular adrenocortical disease, primary, 1|pigmented nodular adrenocortical disease, primary, type 1|PPNAD1|adrenocortical nodular dysplasia, primary|pigmented nodular adrenocortical disease, primary, 1; PPNAD1|pigmented nodular adrenocortical disease, primary, 1|Cushing syndrome, adrenal, due to PPNAD1 MONDO:0012510 combined oxidative phosphorylation defect type 2 biolink:Disease mondo OMIM:610498|MESH:C566468|UMLS:C1864843|ICD10:E88.8|Orphanet:254920|SCTID:764943000 Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. UMLS:C1864843|MESH:C566468|SNOMEDCT:764943000|http://identifiers.org/omim/610498|ORPHA:254920 http://purl.obolibrary.org/obo/MONDO_0012510 corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis|combined oxidative phosphorylation deficiency 2; COXPD2|COXPD2|combined oxidative phosphorylation deficiency type 2|MRPS16 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MRPS16|combined oxidative phosphorylation deficiency 2 ordo_disease HGNC:4087 GABRG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4087 MONDO:0012513 maturity-onset diabetes of the young type 7 biolink:Disease mondo UMLS:C1864839|SCTID:609574004|MESH:C566466|GARD:0010661|OMIM:610508|DOID:0111106 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene. SNOMEDCT:609574004|UMLS:C1864839|MESH:C566466|DOID:0111106|http://identifiers.org/omim/610508 http://purl.obolibrary.org/obo/MONDO_0012513 maturity-onset diabetes of the young (disease) caused by mutation in KLF11|KLF11 maturity-onset diabetes of the young (disease)|MODY type 7|diabetes mellitus MODY type 7|maturity-onset diabetes of the young, type 7|MODY KLF11 related|maturity-onset diabetes of the young, type 7; MODY7|MODY7|type 7 maturity-onset diabetes of the young gard_rare HP:0001710 Conotruncal defect biolink:PhenotypicFeature mondo UMLS:C1853238 A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. http://purl.obolibrary.org/obo/HP_0001710 Conotruncal heart defects MONDO:0012514 hypomyelinating leukodystrophy 5 biolink:Disease mondo MESH:C567166|ICD9:341.8|SCTID:702379005|GARD:0011980|OMIM:610532|Orphanet:85163|UMLS:C1864663|ICD10:G37.8|DOID:0060793 Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit. DOID:0060793|UMLS:C1864663|MESH:C567166|ORPHA:85163|SNOMEDCT:702379005|http://identifiers.org/omim/610532 http://purl.obolibrary.org/obo/MONDO_0012514 hypomyelination - congenital cataract|HLD5|hypomyelination-congenital cataract syndrome|leukodystrophy, hypomyelinating, type 5|hypomyelination and congenital cataract|leukodystrophy caused by mutation in FAM126A|hypomyelination and congenital cataract: HCC|leukodystrophy, hypomyelinating, 5; HLD5|FAM126A leukodystrophy|hypomyelinating leukodystrophy type 5|leukodystrophy, hypomyelinating, 5 ordo_malformation_syndrome HGNC:4084 GABRD biolink:OntologyClass mondo http://identifiers.org/hgnc/4084 MONDO:0012511 preterm premature rupture of the membranes biolink:Disease mondo DOID:0111144|OMIM:610504|SCTID:312974005|MESH:C563032 A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. SNOMEDCT:312974005|DOID:0111144|http://identifiers.org/omim/610504|MESH:C563032 http://purl.obolibrary.org/obo/MONDO_0012511 PPROM|preterm premature rupture of the membranes; PPROM|preterm premature rupture of the membranes HGNC:4083 GABRB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/4083 MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 biolink:Disease mondo SCTID:720951008|ICD10:E88.8|Orphanet:168566|MESH:C566467|OMIM:610505 Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. ORPHA:168566|MESH:C566467|SNOMEDCT:720951008|http://identifiers.org/omim/610505 http://purl.obolibrary.org/obo/MONDO_0012512 TSFM combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in TSFM|combined oxidative phosphorylation deficiency 3|fatal mitochondrial disease due to COXPD3|combined oxidative phosphorylation deficiency 3; COXPD3|COXPD3|encephalomyopathy, respiratory failure, and lactic acidosis|combined oxidative phosphorylation deficiency type 3|concentric cardiomyopathy, hypotonia, and lactic acidosis ordo_disease MONDO:0000539 striated muscle rhabdoid tumor biolink:Disease mondo DOID:0050924 A rhabdoid tumor that involves the striated muscle tissue. DOID:0050924 http://purl.obolibrary.org/obo/MONDO_0000539 striated muscle tissue rhabdoid tumor MONDO:0000538 obsolete spindle epithelial tumor with thymus-like differentiation tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000538 MONDO:0000537 obsolete gastrointestinal carcinoma (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000537 MONDO:0000536 pharyngeal squamous cell carcinoma biolink:Disease mondo SCTID:408649007|EFO:1001965|NCIT:C102872|DOID:0050921|UMLS:C1319317 A squamous cell carcinoma that arises from the pharynx. UMLS:C1319317|SNOMEDCT:408649007|DOID:0050921|NCIT:C102872 http://purl.obolibrary.org/obo/MONDO_0000536 pharyngeal squamous cell carcinoma|pharyngeal squam. cell carcinoma|pharynx squamous cell carcinoma|pharyngeal throat squamous cell cancer|pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma MONDO:0000597 Munchausen by proxy biolink:Disease mondo DOID:0060045|SCTID:95637005|GARD:0007117|MESH:D016735 A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. DOID:0060045|SNOMEDCT:95637005|MESH:D016735 http://purl.obolibrary.org/obo/MONDO_0000597 Munchausen by proxy syndrome|Munchausen syndrome by proxy gard_rare MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 biolink:Disease mondo OMIM:612199 Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene. http://identifiers.org/omim/612199 http://purl.obolibrary.org/obo/MONDO_0024564 Coats plus syndrome caused by mutation in CTC1|cerebroretinal microangiopathy with calcifications and cysts 1; CRMCC1|Crmcc|CRMCC1|CTC1 Coats plus syndrome|Coats plus syndrome MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 biolink:Disease mondo OMIM:610551 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene. http://identifiers.org/omim/610551 http://purl.obolibrary.org/obo/MONDO_0024563 herpes simplex encephalitis caused by mutation in UNC93B1|encephalopathy, acute, infection-induced, susceptibility to, 1|IIAE1|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1; IIAE1|herpes simplex encephalitis, susceptibility to, 1|UNC93B1 herpes simplex encephalitis predisposition MONDO:0000596 paraphilic disorder biolink:Disease mondo DOID:0060044|SCTID:50299009|MESH:D010262 Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V) MESH:D010262|DOID:0060044|SNOMEDCT:50299009 http://purl.obolibrary.org/obo/MONDO_0000596 Sex deviation|paraphilia disorder|paraphilia|deviation, Sex|disorder of sexual preference|Deviations, Sex|Paraphilias|disorders, Paraphilic|paraphilic disorder|disorder, Paraphilic|Sex Deviations MONDO:0000595 sexual and gender identity disorders biolink:Disease mondo SCTID:231532002|NCIT:C92202|DOID:0060043 A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle. DOID:0060043|SNOMEDCT:231532002|NCIT:C92202 http://purl.obolibrary.org/obo/MONDO_0000595 sexual disorder MONDO:0024566 febrile seizures, familial, 11 biolink:Disease mondo OMIM:614418|UMLS:C3280734 UMLS:C3280734|http://identifiers.org/omim/614418 http://purl.obolibrary.org/obo/MONDO_0024566 convulsions, familial febrile, 11|febrile seizures, familial, 11; FEB11|FEB11 MONDO:0000594 pervasive developmental disorder biolink:Disease mondo SCTID:35919005|MESH:D002659|DOID:0060040|NCIT:C97179|ICD9:299.80 A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. DOID:0060040|NCIT:C97179|MESH:D002659|SNOMEDCT:35919005 http://purl.obolibrary.org/obo/MONDO_0000594 pervasive development disorder|pervasive development disorders|pervasive child development disorders MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 biolink:Disease mondo OMIM:613573|UMLS:C3150807 Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene. UMLS:C3150807|http://identifiers.org/omim/613573 http://purl.obolibrary.org/obo/MONDO_0024565 ectodermal dysplasia-syndactyly syndrome 1; EDSS1|NECTIN4 ectodermal dysplasia-syndactyly syndrome|EDSS1|ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4 MONDO:0024568 infantile liver failure syndrome 1 biolink:Disease mondo UMLS:C3809522|GARD:0013114|OMIM:615438|Orphanet:370088|ICD10:K72.0 Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene. UMLS:C3809522|ORPHA:370088|http://identifiers.org/omim/615438 http://purl.obolibrary.org/obo/MONDO_0024568 infantile liver failure syndrome 1; ILFS1|infantile liver failure syndrome 1|ILFS1|infantile liver failure syndrome type 1|LARS infantile liver failure|Lars infantile liver failure|infantile liver failure caused by mutation in LARS|acute infantile liver failure - multisystemic involvement syndrome|infantile liver failure caused by mutation in Lars ordo_disease MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 biolink:Disease mondo UMLS:C3809454|OMIM:615419 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene. UMLS:C3809454|http://identifiers.org/omim/615419 http://purl.obolibrary.org/obo/MONDO_0024567 NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies|IHPRF1|hypotonia, infantile, with psychomotor retardation and characteristic facies 1; IHPRF1|Ihprf|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN MONDO:0000599 writing disorder biolink:Disease mondo DOID:0060047 A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. DOID:0060047 http://purl.obolibrary.org/obo/MONDO_0000599 MONDO:0000598 aphasia biolink:Disease mondo DOID:0060046|ICD10:R47.01|COHD:440424 A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. DOID:0060046 http://purl.obolibrary.org/obo/MONDO_0000598 MONDO:0024569 optic atrophy 8 biolink:Disease mondo OMIM:616648 http://identifiers.org/omim/616648 http://purl.obolibrary.org/obo/MONDO_0024569 optic atrophy 8; OPA8|OPA8 HGNC:23987 NDUFA12 biolink:OntologyClass mondo http://identifiers.org/hgnc/23987 HGNC:4092 GAD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4092 MONDO:0024560 PDA1 biolink:Disease mondo OMIM:607411 http://identifiers.org/omim/607411 http://purl.obolibrary.org/obo/MONDO_0024560 PDA1|patent ductus arteriosus 1; PDA1|PDA UBERON:0035764 pulmonary lymph node biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035764 intrapulmonary lymph node|pulmonary node MONDO:0000593 obsolete autoimmune disease of skin and connective tissue biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000593 MONDO:0000592 specific developmental disorder biolink:Disease mondo SCTID:10720004|ICD9:315.8|DOID:0060038 A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. DOID:0060038|SNOMEDCT:10720004 http://purl.obolibrary.org/obo/MONDO_0000592 specific delays in development|specific developmental disorder UBERON:0035763 cavity of cardiac chamber biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035763 heart lumen|heart cavity|cardiac chamber cavity MONDO:0024562 sick sinus syndrome 1 biolink:Disease mondo OMIM:608567 Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene. http://identifiers.org/omim/608567 http://purl.obolibrary.org/obo/MONDO_0024562 sick sinus syndrome caused by mutation in SCN5A|sinus rhythm, congenital absence of|sinus node disease, familial, autosomal recessive|sick sinus syndrome 1; SSS1|sinus bradycardia syndrome, familial|SSS1|SCN5A sick sinus syndrome|sick sinus syndrome, congenital MONDO:0000591 intrinsic cardiomyopathy biolink:Disease mondo DOID:0060036 A cardiomyopathy that is due to abnormalities in heart muscle cells. DOID:0060036 http://purl.obolibrary.org/obo/MONDO_0000591 primary cardiomyopathy MONDO:0024561 vitelliform macular dystrophy 3 biolink:Disease mondo OMIM:608161 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. http://identifiers.org/omim/608161 http://purl.obolibrary.org/obo/MONDO_0024561 vitelliform macular dystrophy caused by mutation in PRPH2|vitelliform macular dystrophy, adult-onset|foveomacular dystrophy, adult-onset|PRPH2 vitelliform macular dystrophy|VMD3|macular dystrophy, vitelliform, 3; VMD3|foveomacular dystrophy, adult-onset, with or without choroidal neovascularization MONDO:0000590 autoimmune disease of peripheral nervous system biolink:Disease mondo DOID:0060033 A hypersensitivity reaction type II disease that involves the peripheral nervous system. DOID:0060033 http://purl.obolibrary.org/obo/MONDO_0000590 peripheral nervous system hypersensitivity reaction type II disease|peripheral nervous system autoimmune disease MONDO:0012586 coronary artery disease, autosomal dominant 2 biolink:Disease mondo UMLS:C1970440|MESH:C567045|OMIM:610947 Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene. http://identifiers.org/omim/610947|MESH:C567045|UMLS:C1970440 http://purl.obolibrary.org/obo/MONDO_0012586 ADCAD2|coronary artery disease, autosomal dominant 2; ADCAD2|LRP6 coronary artery disease|coronary artery disease, autosomal dominant type 2|coronary artery disease, autosomal dominant 2|coronary artery disease caused by mutation in LRP6 HP:0001762 Talipes equinovarus biolink:PhenotypicFeature mondo MEDDRA:10043106|SNOMEDCT_US:397932003|SNOMEDCT_US:249808002|MSH:D003025|Fyler:4171|UMLS:C0009081 Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. http://purl.obolibrary.org/obo/HP_0001762 Foot, talipes equinovarus|Equinovarus|Pes equinovarus|Club feet|Club foot|Talipes varus|Clubbing of feet|Clubfoot|Clubfeet|Pes equinus hposlim_core MONDO:0012587 hypertension, essential, susceptibility to, 7 biolink:Disease mondo OMIM:610948 http://identifiers.org/omim/610948 http://purl.obolibrary.org/obo/MONDO_0012587 hypertension, essential, susceptibility to, 7|hypertension, essential, susceptibility to, type 7|Hyt7 predisposition MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 biolink:Disease mondo OMIM:610927 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene. http://identifiers.org/omim/610927 http://purl.obolibrary.org/obo/MONDO_0012584 CR2 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, type 9|systemic lupus erythematosus (disease) caused by mutation in CR2|systemic lupus erythematosus, susceptibility to, 9; SLEB9|SLEB9|susceptibility to systemic lupus erythematosus 9|systemic lupus erythematosus, susceptibility to, 9 predisposition MONDO:0012585 coronary heart disease, susceptibility to, 7 biolink:Disease mondo OMIM:610938 Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene. http://identifiers.org/omim/610938 http://purl.obolibrary.org/obo/MONDO_0012585 coronary heart disease, susceptibility to, 7; CHDS7|coronary artery disease caused by mutation in CD36|susceptibility to coronary heart disease 7|coronary heart disease, susceptibility to, 7|CHDS7|CD36 coronary artery disease|coronary heart disease, susceptibility to, type 7 predisposition HP:0001760 Abnormal foot morphology biolink:PhenotypicFeature mondo SNOMEDCT_US:229844004|UMLS:C0016506|MSH:D005530 An abnormality of the skeleton of foot. http://purl.obolibrary.org/obo/HP_0001760 Abnormality of the feet|Abnormality of the foot|Abnormal feet structure|Foot deformity|Foot deformities MONDO:0012588 neuronal ceroid lipofuscinosis 7 biolink:Disease mondo DOID:0110722|GARD:0001220|MESH:C563989|OMIM:610951|Orphanet:228366|ICD10:E75.4 Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. http://identifiers.org/omim/610951|DOID:0110722|MESH:C563989|ORPHA:228366 http://purl.obolibrary.org/obo/MONDO_0012588 MFSD8 neuronal ceroid lipofuscinosis|CLN7 disease, late infantile|ceroid lipofuscinosis, neuronal, 7|CLN7 disease|CLN7|ceroid lipofuscinosis, neuronal, 7; CLN7|neuronal ceroid lipofuscinosis caused by mutation in MFSD8|ceroid lipofuscinosis, neuronal, type 7|neuronal ceroid lipofuscinosis type 7 gard_rare|ordo_etiological_subtype MONDO:0012589 Pitt-Hopkins syndrome biolink:Disease mondo ICD9:758.5|DOID:0060488|NCIT:C129872|OMIM:610954|MESH:C537403|GARD:0004372|Orphanet:2896|UMLS:C1970431|ICD10:Q87.0|SCTID:702344008 Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. NCIT:C129872|http://identifiers.org/omim/610954|DOID:0060488|UMLS:C1970431|SNOMEDCT:702344008|ORPHA:2896|MESH:C537403 http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome; PTHS|Pitt Hopkins syndrome|PTHS|Pitt-Hopkins syndrome|mental retardation, Syndromal, with intermittent hyperventilation|intellectual disability, Syndromal, with intermittent hyperventilation|encephalopathy, Severe epileptic, with autonomic dysfunction|intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea gard_rare|ordo_malformation_syndrome ENVO:01001286 slate dust biolink:OntologyClass mondo Dust which is primarily composed of slate particles. http://purl.obolibrary.org/obo/ENVO_01001286 ENVO:01001285 talc dust biolink:OntologyClass mondo Dust which is primarily composed of hydrated magnesium silicate (talc) particles. http://purl.obolibrary.org/obo/ENVO_01001285 HGNC:21317 DYM biolink:OntologyClass mondo http://identifiers.org/hgnc/21317 ENVO:01001288 kaolin dust biolink:OntologyClass mondo Dust which is primarily composed of kaolinite particles. http://purl.obolibrary.org/obo/ENVO_01001288 kaolinite dust MONDO:0012582 interstitial lung disease due to ABCA3 deficiency biolink:Disease mondo MESH:C567046|OMIM:610921|UMLS:C1970456|Orphanet:440402|ICD10:J84.8 Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. http://identifiers.org/omim/610921|UMLS:C1970456|MESH:C567046|ORPHA:440402 http://purl.obolibrary.org/obo/MONDO_0012582 SMDP3|interstitial lung disease due to ABCA3 deficiency|surfactant metabolism dysfunction, pulmonary, 3; SMDP3|surfactant metabolism dysfunction, pulmonary, type 3|pulmonary alveolar proteinosis, congenital, 3|surfactant metabolism dysfunction, pulmonary, 3|interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency ordo_disease ENVO:01001282 silica dust biolink:OntologyClass mondo Dust which is composed primarily of slicon dioxide. http://purl.obolibrary.org/obo/ENVO_01001282 MONDO:0012583 STHAG5 biolink:Disease mondo OMIM:610926|MESH:C565757|UMLS:C1858210 MESH:C565757|http://identifiers.org/omim/610926|UMLS:C1858210 http://purl.obolibrary.org/obo/MONDO_0012583 he-Zhao deficiency|hypodontia/oligodontia 5|tooth agenesis, selective, 5; STHAG5|tooth agenesis, selective, 5|STHAG5 MONDO:0012580 hereditary pulmonary alveolar proteinosis biolink:Disease mondo Orphanet:264675|ICD10:J84.0|GARD:0004582|MESH:C535832|UMLS:C2931035|OMIMPS:265120|SCTID:707442002 Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure. UMLS:C2931035|MESH:C535832|ORPHA:264675|SNOMEDCT:707442002 http://purl.obolibrary.org/obo/MONDO_0012580 congenital PAP|sufactant metabolism dysfunction, pulmonary|inborn error of pulmonary surfactant metabolism|pulmonary alveolar proteinosis, congenital|hereditary pulmonary alveolar proteinosis|congenital pulmonary alveolar proteinosis gard_rare|ordo_disease ENVO:01001284 barium dust biolink:OntologyClass mondo Dust which is primarily composed of barium particles. http://purl.obolibrary.org/obo/ENVO_01001284 MONDO:0012581 osteogenesis imperfecta type 8 biolink:Disease mondo MESH:C536049|OMIM:610915|DOID:0110336|GARD:0010152|ICD10:Q78.0 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene. http://identifiers.org/omim/610915|MESH:C536049|DOID:0110336 http://purl.obolibrary.org/obo/MONDO_0012581 OI8|OI, type 8|osteogenesis imperfecta, type 8|osteogenesis imperfecta, type VIII; OI8|osteogenesis imperfecta caused by mutation in P3H1|osteogenesis imperfecta type VIII|osteogenesis imperfecta, type VIII|P3H1 osteogenesis imperfecta|OI type VIII MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 biolink:Disease mondo OMIM:600462|UMLS:C1838103 Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene. UMLS:C1838103|http://identifiers.org/omim/600462 http://purl.obolibrary.org/obo/MONDO_0024553 PUS1 myopathy, lactic acidosis, and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia|myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1|MLASA1|myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 MONDO:0024552 linear skin defects with multiple congenital anomalies 1 biolink:Disease mondo OMIM:309801 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene. UMLS:C0796070|http://identifiers.org/omim/309801 http://purl.obolibrary.org/obo/MONDO_0024552 microphthalmia, syndromic 7|Midas syndrome|microphthalmia with linear skin defects|HCCS microphthalmia with linear skin defects syndrome|LSDMCA1|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia with linear skin defects syndrome caused by mutation in HCCS|linear skin defects with multiple congenital anomalies 1; LSDMCA1 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 biolink:Disease mondo OMIM:604004|DOID:0080316 DOID:0080316|http://identifiers.org/omim/604004|UMLS:C1858854 http://purl.obolibrary.org/obo/MONDO_0024555 megalencephalic leukoencephalopathy with subcortical cysts 1; MLC1|Lvm|VL|leukoencephalopathy with swelling and cysts|Van Der Knaap disease|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|MLC1 MONDO:0024554 D-2-hydroxyglutaric aciduria 1 biolink:Disease mondo UMLS:C3152055|OMIM:600721 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene. http://identifiers.org/omim/600721|UMLS:C3152055 http://purl.obolibrary.org/obo/MONDO_0024554 D2HGDH D-2-hydroxyglutaric aciduria|D-2-hydroxyglutaric aciduria 1; D2HGA1|D2HGA1|D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH MONDO:0024557 ataxia-telangiectasia-like disorder 1 biolink:Disease mondo OMIM:604391|UMLS:C1858391 Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene. http://identifiers.org/omim/604391|UMLS:C1858391 http://purl.obolibrary.org/obo/MONDO_0024557 Atld|ataxia - telangiectasia-like disorder caused by mutation in MRE11|MRE11 ataxia-telangiectasia-like disorder|ataxia-telangiectasia-like disorder 1; ATLD1|ataxia-telangiectasia-like disorder caused by mutation in MRE11|MRE11 ataxia - telangiectasia-like disorder|ATLD1 MONDO:0024556 epilepsy, familial focal, with variable foci 1 biolink:Disease mondo OMIM:604364|UMLS:C1858477 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene. http://identifiers.org/omim/604364|UMLS:C1858477 http://purl.obolibrary.org/obo/MONDO_0024556 epilepsy, familial focal, with variable foci|FFEVF1|epilepsy, familial focal, with variable foci caused by mutation in DEPDC5|DEPDC5 epilepsy, familial focal, with variable foci|epilepsy, partial, with variable foci|epilepsy, familial focal, with variable foci 1; FFEVF1 MONDO:0024559 AAT1 biolink:Disease mondo OMIM:607086 http://identifiers.org/omim/607086 http://purl.obolibrary.org/obo/MONDO_0024559 aortic dissection, familial|aortic aneurysm, familial thoracic 1; AAT1|aortic aneurysm, familial thoracic|AAT1|aneurysm, thoracic aortic|FAA1|Erdheim cystic medial necrosis of aorta|annuloaortic ectasia MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 biolink:Disease mondo OMIM:605432 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene. http://identifiers.org/omim/605432 http://purl.obolibrary.org/obo/MONDO_0024558 RUSAT1|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11|HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radioulnar synostosis with amegakaryocytic thrombocytopenia 1; RUSAT1|Rusat|thrombocytopenia, congenital, with radioulnar synostosis NCBITaxon:1129771 Leptotrichiaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1129771 MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency biolink:Disease mondo Orphanet:538931|OMIM:308240 A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. ORPHA:538931|http://identifiers.org/omim/308240 http://purl.obolibrary.org/obo/MONDO_0024551 Purtilo syndrome|Xlp|immunodeficiency 5|infectious mononucleosis, Severe, susceptibility to|immunodeficiency, X-linked progressive combined variable|lymphoproliferative syndrome, X-linked, 1; XLP1|EBV infection, Severe, susceptibility to|Epstein-Barr Virus infection, familial fatal|Lyp|lymphoproliferative disease, X-linked|XLP1|Duncan disease ordo_disease MONDO:0024550 frontometaphyseal dysplasia 1 biolink:Disease mondo OMIM:305620 Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene. http://identifiers.org/omim/305620|UMLS:C0265293 http://purl.obolibrary.org/obo/MONDO_0024550 FMD1|FLNA frontometaphyseal dysplasia|FRONTOMETAPHYSEAL dysplasia 1; FMD1|frontometaphyseal dysplasia caused by mutation in FLNA|Fmd MONDO:0012575 branchiootorenal syndrome 2 biolink:Disease mondo UMLS:C1970479|OMIM:610896 Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. http://identifiers.org/omim/610896|UMLS:C1970479 http://purl.obolibrary.org/obo/MONDO_0012575 branchiootorenal syndrome type 2|branchio-oto-renal syndrome caused by mutation in SIX5|branchiootorenal syndrome 2; BOR2|BOR2|branchiootorenal syndrome 2|SIX5 branchio-oto-renal syndrome MONDO:0012576 PSNP3 biolink:Disease mondo UMLS:C1970476|MESH:C567050|OMIM:610898 http://identifiers.org/omim/610898|MESH:C567050|UMLS:C1970476 http://purl.obolibrary.org/obo/MONDO_0012576 supranuclear palsy, progressive, 3|PSNP3|supranuclear palsy, progressive, 3; PSNP3 UBERON:0035767 intrapulmonary bronchus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035767 MONDO:0012573 vesicoureteral reflux 2 biolink:Disease mondo UMLS:C1970483|MESH:C567053|OMIM:610878 Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene. http://identifiers.org/omim/610878|MESH:C567053|UMLS:C1970483 http://purl.obolibrary.org/obo/MONDO_0012573 vesicoureteral reflux type 2|vesicoureteral reflux 2; VUR2|vesicoureteral reflux (disease) caused by mutation in ROBO2|VUR2|vesicoureteral reflux 2|ROBO2 vesicoureteral reflux (disease) MONDO:0012574 Potocki-Lupski syndrome biolink:Disease mondo ICD10:Q92.3|Orphanet:1713|UMLS:C2931246|OMIM:610883|GARD:0010145|NCIT:C124846|SCTID:734016004|DOID:0060853 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated. ORPHA:1713|MESH:C536578|http://identifiers.org/omim/610883|SNOMEDCT:734016004|UMLS:C2931246|DOID:0060853|NCIT:C124846 http://purl.obolibrary.org/obo/MONDO_0012574 17p11.2 microduplication syndrome|Potocki-Lupski syndrome (dup(17)(p11.2p11.2))|Duplication 17p11.2 syndrome|trisomy 17p11.2|Potocki-Lupski syndrome; PTLS|17p11.2 Duplication syndrome|chromosome 17p11.2 duplication syndrome|chromosome 17P11.2 Duplication syndrome|Potocki-Lupski syndrome|PTLS ordo_malformation_syndrome MONDO:0012579 autoimmune pulmonary alveolar proteinosis biolink:Disease mondo UMLS:C1970472|SCTID:707443007|MESH:C567049|ICD10:J84.0|GARD:0007499|OMIM:610910|Orphanet:747 Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS). ORPHA:747|http://identifiers.org/omim/610910|SNOMEDCT:707443007|UMLS:C1970472|MESH:C567049 http://purl.obolibrary.org/obo/MONDO_0012579 pulmonary alveolar lipoproteinosis acquired|iPAP|idiopathic pulmonary alveolar proteinosis|APAP|pulmonary alveolar proteinosis, autoimmune|pulmonary alveolar lipoproteinosis, acquired|PAP acquired|autoimmune PAP|pulmonary alveolar proteinosis autoimmune|idiopathic PAP|pulmonary alveolar proteinosis, acquired|pulmonary alveolar proteinosis acquired|acquired pulmonary alveolar proteinosis|PAP|Pap, acquired ordo_disease|gard_rare MONDO:0012577 asthma-related traits, susceptibility to, 4 biolink:Disease mondo OMIM:610906 http://identifiers.org/omim/610906 http://purl.obolibrary.org/obo/MONDO_0012577 asthma-related traits, susceptibility to, 4|asthma and allergic rhinitis, susceptibility to|ASRT4|asthma-related traits, susceptibility to, type 4 predisposition MONDO:0012578 AUTS13 biolink:Disease mondo OMIM:610908 http://identifiers.org/omim/610908 http://purl.obolibrary.org/obo/MONDO_0012578 autism, susceptibility to, 13; AUTS13|autism, susceptibility to, 13|AUTS13 predisposition ENVO:01001275 solid layer biolink:OntologyClass mondo A layer which is primarily composed of some solid material, allowing for non-solid parts such as interstitial pockets of gas or liquid. http://purl.obolibrary.org/obo/ENVO_01001275 MONDO:0024549 MCOPCB1 biolink:Disease mondo OMIM:300345 http://identifiers.org/omim/300345 http://purl.obolibrary.org/obo/MONDO_0024549 MCOPCB1|microphthalmia, isolated, with coloboma 1; MCOPCB1|microphthalmia, colobomatous, isolated 1 ENVO:01001276 water ice layer biolink:OntologyClass mondo A solid layer which is primarily composed of some water-based ice. http://purl.obolibrary.org/obo/ENVO_01001276 MONDO:0012571 primary ciliary dyskinesia 6 biolink:Disease mondo MESH:C567057|OMIM:610852|ICD10:Q34.8|DOID:0110606|UMLS:C1970506 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene. http://identifiers.org/omim/610852|DOID:0110606|MESH:C567057|UMLS:C1970506 http://purl.obolibrary.org/obo/MONDO_0012571 ciliary dyskinesia, primary, type 6|NME8 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in NME8|primary ciliary dyskinesia type 6|ciliary dyskinesia, primary, 6|CILD6|ciliary dyskinesia, primary, 6; CILD6 MONDO:0012572 Sakoda complex biolink:Disease mondo OMIM:610871|MESH:C567055|UMLS:C1970485|GARD:0009695 http://identifiers.org/omim/610871|UMLS:C1970485|MESH:C567055 http://purl.obolibrary.org/obo/MONDO_0012572 Sakoda complex|Sakoda spectrum|sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate|sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate gard_rare ENVO:01001273 liquid layer biolink:OntologyClass mondo A layer which is primarily composed of some liquid material. http://purl.obolibrary.org/obo/ENVO_01001273 MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency biolink:Disease mondo ICD10:D68.4|SCTID:717941005|Orphanet:91135|OMIM:610842|MESH:C563654|UMLS:C1835813|UMLS:C4049241 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs. http://identifiers.org/omim/610842|MESH:C563654|UMLS:C4049241|UMLS:C1835813|ORPHA:91135|SNOMEDCT:717941005 http://purl.obolibrary.org/obo/MONDO_0012570 PXE-like disorder with multiple coagulation Factor deficiency|pseudoxanthoma elasticum-like syndrome|pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency|PXE-like syndrome ordo_disease MONDO:0024542 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 biolink:Disease mondo UMLS:CN074243|OMIM:224050 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene. http://identifiers.org/omim/224050|UMLS:CN074243 http://purl.obolibrary.org/obo/MONDO_0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1|cerebellar hypoplasia, VLDLR-associated|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1|cerebellar ataxia, congenital, and intellectual disability, autosomal recessive|VLDLR dysequilibrium syndrome|dysequilibrium syndrome|cerebellar ataxia, congenital, and mental retardation, autosomal recessive|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1; CAMRQ1|dysequilibrium syndrome caused by mutation in VLDLR|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; CAMRQ1|CAMRQ1|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1 MONDO:0000575 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000575 MONDO:0024541 trichohepatoenteric syndrome 1 biolink:Disease mondo OMIM:222470|UMLS:CN034858 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene. http://identifiers.org/omim/222470|UMLS:CN034858 http://purl.obolibrary.org/obo/MONDO_0024541 diarrhea, fatal infantile, with trichorrhexis nodosa|diarrhea, syndromic|TRICHOHEPATOENTERIC syndrome 1; THES1|TTC37 tricho-hepato-enteric syndrome|The syndrome|THES1|tricho-hepato-enteric syndrome caused by mutation in TTC37 MONDO:0000574 obsolete CD45 deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000574 MONDO:0024544 Heimler syndrome 1 biolink:Disease mondo OMIM:234580 http://identifiers.org/omim/234580 http://purl.obolibrary.org/obo/MONDO_0024544 HEIMLER syndrome 1; HMLR1|hearing loss, sensorineural, with enamel hypoplasia and nail defects|HMLR1|peroxisome biogenesis disorder 1C MONDO:0000573 recombinase activating gene 2 deficiency biolink:Disease mondo DOID:0060012 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. DOID:0060012 http://purl.obolibrary.org/obo/MONDO_0000573 MONDO:0024543 brittle cornea syndrome 1 biolink:Disease mondo SCTID:31798004|OMIM:229200 Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene. SNOMEDCT:31798004|http://identifiers.org/omim/229200 http://purl.obolibrary.org/obo/MONDO_0024543 ZNF469 brittle cornea syndrome|brittle cornea syndrome 1; BCS1|brittle cornea syndrome caused by mutation in ZNF469|corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility|Ehlers-Danlos syndrome, type Vib, formerly|dysgenesis Mesodermalis corneae Et sclerae|Ehlers-Danlos syndrome, type Vib|Fragilitas oculi with Joint hyperextensibility|BCS1 MONDO:0000572 recombinase activating gene 1 deficiency biolink:Disease mondo DOID:0060011 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. DOID:0060011 http://purl.obolibrary.org/obo/MONDO_0000572 MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 biolink:Disease mondo OMIM:259100 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene. http://identifiers.org/omim/259100 http://purl.obolibrary.org/obo/MONDO_0024546 HPGD primary hypertrophic osteoarthropathy|Cranioosteoarthropathy|pachydermoperiostosis, autosomal recessive|familial idiopathic osteoarthropathy of childhood|PHOAR1|Touraine-Solente-Gole syndrome|Pho, autosomal recessive|primary hypertrophic osteoarthropathy caused by mutation in HPGD|PDP, autosomal recessive|Currarino idiopathic osteoarthropathy|hypertrophic osteoarthropathy, primary, autosomal recessive, 1; PHOAR1 MONDO:0000579 obsolete coronin-1A deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000579 MONDO:0024545 Miyoshi muscular dystrophy 1 biolink:Disease mondo OMIM:254130|DOID:0070199|UMLS:C1850808 Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene. UMLS:C1850808|http://identifiers.org/omim/254130|DOID:0070199 http://purl.obolibrary.org/obo/MONDO_0024545 DYSF Miyoshi myopathy|Miyoshi myopathy caused by mutation in DYSF|muscular dystrophy, distal, late-onset, autosomal recessive|MIYOSHI muscular dystrophy 1; MMD1|MMD1|Miyoshi myopathy MONDO:0000578 obsolete CD3gamma deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000578 MONDO:0024548 peeling skin syndrome 1 biolink:Disease mondo UMLS:C3891449|OMIM:270300 Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene. UMLS:C3891449|http://identifiers.org/omim/270300 http://purl.obolibrary.org/obo/MONDO_0024548 deciduous skin|PSS|CDSN peeling skin syndrome|skin peeling, familial continuous generalized|peeling skin syndrome 1; PSS1|peeling skin syndrome caused by mutation in CDSN|keratolysis exfoliativa congenita|PSS1 MONDO:0000577 congenital anemia biolink:Disease mondo UMLS:C0158995|NCIT:C35228|SCTID:63565007 Anemia, the cause of which is present at birth. NCIT:C35228|SNOMEDCT:63565007|UMLS:C0158995 http://purl.obolibrary.org/obo/MONDO_0000577 congenital anemia (disease)|congenital anemia MONDO:0024547 pancreatic agenesis 1 biolink:Disease mondo OMIM:260370|UMLS:C3891828 Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene. http://identifiers.org/omim/260370|UMLS:C3891828 http://purl.obolibrary.org/obo/MONDO_0024547 pancreatic agenesis caused by mutation in PDX1|Pagen|PAGEN1|pancreatic agenesis 1; PAGEN1|pancreatic hypoplasia, congenital|PDX1 pancreatic agenesis HGNC:21304 ADPRS biolink:OntologyClass mondo http://identifiers.org/hgnc/21304 MONDO:0000576 obsolete CD3delta deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000576 MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency biolink:Disease mondo OMIM:610798|SCTID:718717004|UMLS:C4305256|MESH:C563663|Orphanet:90023|UMLS:C1835829|ICD10:D82.8 Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. UMLS:C1835829|SNOMEDCT:718717004|UMLS:C4305256|ORPHA:90023|http://identifiers.org/omim/610798|MESH:C563663 http://purl.obolibrary.org/obo/MONDO_0012559 immunodeficiency due to defect in MAPBP-interacting PROTEIN|immunodeficiency due to defect in Mapbp-interacting Protein|primary immunodeficiency syndrome with short stature|primary immunodeficiency syndrome due to LAMTOR2 deficiency ordo_disease MONDO:0000571 obsolete CD3zeta deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000571 MONDO:0000570 obsolete severe combined immunodeficiency due to artemis deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000570 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 biolink:Disease mondo UMLS:CN034131|OMIM:220400 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. UMLS:CN034131|http://identifiers.org/omim/220400 http://purl.obolibrary.org/obo/MONDO_0024540 prolonged QT interval in Ekg and sudden death|Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1|JLNS1|Cardioauditory syndrome of Jervell and Lange-Nielsen|Surdo-Cardiac syndrome|deafness, congenital, and functional heart disease|KCNQ1 Jervell and Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome 1; JLNS1 MONDO:0012564 Polyosteolysis-hyperostosis syndrome biolink:Disease mondo OMIM:610830|GARD:0010456|UMLS:C1835818|MESH:C563658 http://identifiers.org/omim/610830|MESH:C563658|UMLS:C1835818 http://purl.obolibrary.org/obo/MONDO_0012564 Polyosteolysis-hyperostosis syndrome|Polyosteolysis/hyperostosis syndrome gard_rare MONDO:0012565 Fanconi anemia complementation group N biolink:Disease mondo DOID:0111094|OMIM:610832|UMLS:C1835817|MESH:C563657 Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. DOID:0111094|http://identifiers.org/omim/610832|MESH:C563657|UMLS:C1835817 http://purl.obolibrary.org/obo/MONDO_0012565 Fanconi anemia, complementation group N|Fanconi anemia complementation group type N|Fanconi Anemia, complementation group type N|FANCN|Fanconi anemia, complementation group N; FANCN|Fanconi anemia caused by mutation in PALB2|PALB2 Fanconi anemia MONDO:0012562 holoprosencephaly 7 biolink:Disease mondo MESH:C563660|OMIM:610828|DOID:0110876|UMLS:C1835820 Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene. http://identifiers.org/omim/610828|DOID:0110876|MESH:C563660|UMLS:C1835820 http://purl.obolibrary.org/obo/MONDO_0012562 PTCH1 holoprosencephaly|holoprosencephaly 7; HPE7|holoprosencephaly 7|holoprosencephaly caused by mutation in PTCH1|HPE7|holoprosencephaly type 7 MONDO:0012563 holoprosencephaly 9 biolink:Disease mondo OMIM:610829|DOID:0110873|UMLS:C1835819 Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene. http://identifiers.org/omim/610829|DOID:0110873|UMLS:C1835819 http://purl.obolibrary.org/obo/MONDO_0012563 pituitary anomalies with holoprosencephaly-like features|holoprosencephaly with microphthalmia and first branchial arch anomalies|holoprosencephaly 9; HPE9|holoprosencephaly 9|HPE9|holoprosencephaly with microphthalmia and first branchial Arch anomalies|holoprosencephaly caused by mutation in GLI2|holoprosencephaly type 9|pituitary anomalies with holoprosencephaly-like features|GLI2 holoprosencephaly HP:0001743 Abnormality of the spleen biolink:PhenotypicFeature mondo UMLS:C4025749 An abnormality of the spleen. http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen MONDO:0012568 OS4 biolink:Disease mondo UMLS:C1835815|OMIM:610839 http://identifiers.org/omim/610839|UMLS:C1835815 http://purl.obolibrary.org/obo/MONDO_0012568 osteoarthritis susceptibility 4; OS4|osteoarthritis susceptibility 4|OS4|osteoarthritis, generalized, without dysplasia MONDO:0012569 MMVP3 biolink:Disease mondo MESH:C563655|OMIM:610840|UMLS:C1835814 http://identifiers.org/omim/610840|MESH:C563655|UMLS:C1835814 http://purl.obolibrary.org/obo/MONDO_0012569 myxomatous mitral valve prolapse 3|mitral valve prolapse, myxomatous 3|MVP3|mitral valve prolapse, myxomatous 3; MMVP3|MMVP3|mitral valve prolapse 3; MVP3 HP:0001744 Splenomegaly biolink:PhenotypicFeature mondo MSH:D013163|SNOMEDCT_US:16294009|UMLS:C0038002 Abnormal increased size of the spleen. http://purl.obolibrary.org/obo/HP_0001744 Increased spleen size MONDO:0012566 AUTS11 biolink:Disease mondo OMIM:610836 http://identifiers.org/omim/610836 http://purl.obolibrary.org/obo/MONDO_0012566 AUTS11|autism, susceptibility to, 11|autism, susceptibility to, 11; AUTS11 predisposition MONDO:0012567 AUTS12 biolink:Disease mondo OMIM:610838 http://identifiers.org/omim/610838 http://purl.obolibrary.org/obo/MONDO_0012567 AUTS12|autism, susceptibility to, 12|autism, susceptibility to, 12; AUTS12 predisposition MONDO:0024539 choroidal dystrophy, central areolar, 1 biolink:Disease mondo OMIM:215500 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. http://identifiers.org/omim/215500 http://purl.obolibrary.org/obo/MONDO_0024539 GUCY2D central areolar choroidal dystrophy|choroidal dystrophy, central areolar, 1; CACD1|choroidal dystrophy, central areolar|CACD1|central areolar choroidal dystrophy caused by mutation in GUCY2D|choroidal sclerosis MONDO:0024538 basal ganglia calcification, idiopathic, 1 biolink:Disease mondo OMIM:213600|UMLS:C0393590 UMLS:C0393590|http://identifiers.org/omim/213600 http://purl.obolibrary.org/obo/MONDO_0024538 Fahr disease, familial|basal ganglia calcification, idiopathic, 3, formerly|striopallidodentate calcinosis, bilateral|basal ganglia calcification, idiopathic, 3|ferrocalcinosis, cerebrovascular|striopallidodentate calcinosis, autosomal dominant, adult-onset|IBGC1|basal ganglia calcification, idiopathic, 1; IBGC1|Fahr disease, familial, formerly|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset MONDO:0000569 autoimmune disease of endocrine system biolink:Disease mondo ICD9:279.49|SCTID:237822008|UMLS:C0342552|DOID:0060005 A hypersensitivity reaction type II disease that involves the endocrine system. UMLS:C0342552|DOID:0060005|SNOMEDCT:237822008 http://purl.obolibrary.org/obo/MONDO_0000569 endocrine system hypersensitivity reaction type II disease|endocrine system autoimmune disease MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0012560 MONDO:0012561 congenital anomalies of kidney and urinary tract 1, susceptibility to biolink:Disease mondo UMLS:C1835826|MESH:C563661|OMIM:610805|DOID:0080206 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. http://identifiers.org/omim/610805|MESH:C563661|UMLS:C1835826|DOID:0080206 http://purl.obolibrary.org/obo/MONDO_0012561 congenital anomalies of kidney and urinary tract 1, susceptibility to|renal hypodysplasia, nonsyndromic, 1|congenital anomaly of kidney and urinary tract caused by mutation in DSTYK|congenital anomalies of kidney and urinary tract 1|congenital anomalies of kidney and urinary tract 1, susceptibility to; CAKUT1|CAKUT1|congenital anomalies of kidney and urinary tract 1; CAKUT1|DSTYK congenital anomaly of kidney and urinary tract predisposition MONDO:0024531 myopathy, tubular aggregate, 1 biolink:Disease mondo UMLS:C4011726|OMIM:160565 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene. UMLS:C0410207|UMLS:C4011726|http://identifiers.org/omim/160565 http://purl.obolibrary.org/obo/MONDO_0024531 myopathy, tubular aggregate|tubular aggregate myopathy caused by mutation in STIM1|myopathy, tubular aggregate, 1; TAM1|STIM1 tubular aggregate myopathy|TAM1|tubular aggregate myopathy MONDO:0000586 autoimmune disease of exocrine system biolink:Disease mondo DOID:0060029 A hypersensitivity reaction type II disease that involves the exocrine system. DOID:0060029 http://purl.obolibrary.org/obo/MONDO_0000586 exocrine system hypersensitivity reaction type II disease|exocrine system autoimmune disease NCBITaxon:314295 Hominoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_314295 ape|apes MONDO:0024530 Bethlem myopathy 1 biolink:Disease mondo UMLS:CN029274|OMIM:158810 http://identifiers.org/omim/158810|UMLS:CN029274 http://purl.obolibrary.org/obo/MONDO_0024530 muscular dystrophy, benign congenital|myopathy, benign congenital, with contractures|BTHLM1|Bethlem myopathy|Bethlem myopathy 1; BTHLM1 MONDO:0000585 obsolete Good syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000585 MONDO:0024533 pulmonary hypertension, primary, 1 biolink:Disease mondo OMIM:178600 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. http://identifiers.org/omim/178600 http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, Fenfluramine-associated|Pph1 with Hht|pulmonary hypertension, primary, 1; PPH1|pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia|primary pulmonary hypertension caused by mutation in BMPR2|PHT|pulmonary hypertension, primary, Dexfenfluramine-associated|PPH1|BMPR2 primary pulmonary hypertension|pulmonary arterial hypertension MONDO:0000584 B cell linker protein deficiency biolink:Disease mondo DOID:0060027 A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. DOID:0060027 http://purl.obolibrary.org/obo/MONDO_0000584 BLNK deficiency|B-cell linker protein deficiency MONDO:0024532 otofaciocervical syndrome 1 biolink:Disease mondo UMLS:CN034490|OMIM:166780|UMLS:C3714941 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene. UMLS:C3714941|http://identifiers.org/omim/166780|UMLS:CN034490 http://purl.obolibrary.org/obo/MONDO_0024532 EYA1 otofaciocervical syndrome|OFC|otofaciocervical syndrome 1; OTFCS|OFC1|otofaciocervical syndrome caused by mutation in EYA1|OTFCS MONDO:0000583 immunoglobulin beta deficiency biolink:Disease mondo DOID:0060026|UMLS:C3502055|MESH:C567200 DOID:0060026|MESH:C567200|UMLS:C3502055 http://purl.obolibrary.org/obo/MONDO_0000583 IgB deficiency MONDO:0024535 Singleton-Merten syndrome 1 biolink:Disease mondo OMIM:182250|UMLS:C4225427 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. http://identifiers.org/omim/182250|UMLS:C4225427 http://purl.obolibrary.org/obo/MONDO_0024535 singleton-Merten dysplasia caused by mutation in IFIH1|SGMRT1|IFIH1 singleton-Merten dysplasia|singleton-Merten syndrome 1; SGMRT1 UBERON:0008192 tendon of triceps brachii biolink:AnatomicalEntity mondo A tendon that attaches_to a triceps brachii. http://purl.obolibrary.org/obo/UBERON_0008192 triceps brachii tendon|triceps tendon|tendon of triceps brachii muscle MONDO:0024534 Dowling-Degos disease 1 biolink:Disease mondo OMIM:179850|UMLS:C3714534 Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene. UMLS:C3714534|http://identifiers.org/omim/179850 http://purl.obolibrary.org/obo/MONDO_0024534 Dowling-Degos disease caused by mutation in KRT5|reticular pigment anomaly of flexures|Dowling-Degos disease 1; DDD1|DDD|KRT5 Dowling-Degos disease|DDD1 MONDO:0000589 autoimmune disease of musculoskeletal system biolink:Disease mondo DOID:0060032 A hypersensitivity reaction type II disease that involves the musculoskeletal system. DOID:0060032 http://purl.obolibrary.org/obo/MONDO_0000589 musculoskeletal system hypersensitivity reaction type II disease|musculoskeletal system autoimmune disease UBERON:0008193 pneumatized bone biolink:AnatomicalEntity mondo A bone that is hollow or contains many air cells, such as the mastoid process of the temporal bone[TMD]. http://purl.obolibrary.org/obo/UBERON_0008193 hollow bone|pneumatic bone|os pneumaticum HGNC:21316 ANKRD11 biolink:OntologyClass mondo http://identifiers.org/hgnc/21316 MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 biolink:Disease mondo OMIM:211530|UMLS:CN029849|NCIT:C133724 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene. UMLS:CN029849|NCIT:C133724|http://identifiers.org/omim/211530 http://purl.obolibrary.org/obo/MONDO_0024537 BVVLS1|pontobulbar palsy with deafness|SLC52A3 Brown-Vialetto-van Laere syndrome|bulbar palsy, progressive, with sensorineural deafness|BROWN-Vialetto-VAN Laere syndrome 1; BVVLS1|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3 MONDO:0000588 autoimmune disease of gastrointestinal tract biolink:Disease mondo DOID:0060031 A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system. DOID:0060031 http://purl.obolibrary.org/obo/MONDO_0000588 alimentary part of gastrointestinal system autoimmune disease|alimentary part of gastrointestinal system hypersensitivity reaction type II disease|autoimmune disease of alimentary part of gastrointestinal system MONDO:0024536 glucocorticoid deficiency 1 biolink:Disease mondo UMLS:C1859974|OMIM:202200 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene. UMLS:C1859974|http://identifiers.org/omim/202200 http://purl.obolibrary.org/obo/MONDO_0024536 adrenal unresponsiveness to ACTH|glucocorticoid deficiency 1; GCCD1|GCCD1|familial glucocorticoid deficiency caused by mutation in MC2R|ACTH resistance|familial glucocorticoid deficiency 1|MC2R familial glucocorticoid deficiency MONDO:0000587 autoimmune disease of ear, nose and throat biolink:Disease mondo DOID:0060030 An autoimmune form of otorhinolaryngologic disease. DOID:0060030 http://purl.obolibrary.org/obo/MONDO_0000587 autoimmune disease of eyes, ear, nose and throat|autoimmune otorhinolaryngologic disease MONDO:0012548 Kostmann syndrome biolink:Disease mondo ICD10:D70|Orphanet:99749|UMLS:CN032247|OMIM:610738|GARD:0000302 Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. UMLS:CN032247|ORPHA:99749|http://identifiers.org/omim/610738 http://purl.obolibrary.org/obo/MONDO_0012548 severe congenital neutropenia autosomal recessive 3|severe congenital neutropenia type 3|SCN3|neutropenia, severe congenital, 3, autosomal recessive; SCN3|Kostmann disease|neutropenia, severe congenital, 3, autosomal recessive|infantile agranulocytosis|agranulocytosis infantile|agranulocytosis, infantile ordo_disease MONDO:0012549 autosomal recessive ataxia, Beauce type biolink:Disease mondo UMLS:C1853116|OMIM:610743|Orphanet:88644|UMLS:C3683483|ICD10:G11.2|GARD:0012234 A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations. UMLS:C3683483|ORPHA:88644|http://identifiers.org/omim/610743|UMLS:C1853116 http://purl.obolibrary.org/obo/MONDO_0012549 spinocerebellar ataxia, autosomal recessive 8|cerebellar ataxia, autosomal recessive, type 1|ataxia, recessive, of Beauce|SYNE1-related autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia type 1|ARCA1|SCAR8|spinocerebellar ataxia, autosomal recessive 8; SCAR8|spinocerebellar ataxia, autosomal recessive type 8|spinocerebellar ataxia autosomal recessive 8|autosomal recessive spinocerebellar ataxia 8|autosomal recessive ataxia Beauce type|recessive ataxia of Beauce ordo_disease MONDO:0000582 obsolete immunoglobulin alpha deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000582 MONDO:0000581 obsolete lambda 5 deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000581 MONDO:0000580 obsolete CD40 ligand deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000580 NCBITaxon:314293 Simiiformes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_314293 Anthropoidea MONDO:0012553 cerebrooculofacioskeletal syndrome 2 biolink:Disease mondo UMLS:C1853102|MESH:C565185|OMIM:610756 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. MESH:C565185|http://identifiers.org/omim/610756|UMLS:C1853102 http://purl.obolibrary.org/obo/MONDO_0012553 cerebrooculofacioskeletal syndrome type 2|ERCC2 COFS syndrome|cerebrooculofacioskeletal syndrome 2|cerebrooculofacioskeletal syndrome 2; COFS2|COFS2|COFS syndrome caused by mutation in ERCC2 MONDO:0012554 cerebrooculofacioskeletal syndrome 4 biolink:Disease mondo UMLS:C1853100|MESH:C565184|OMIM:610758 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene. MESH:C565184|http://identifiers.org/omim/610758|UMLS:C1853100 http://purl.obolibrary.org/obo/MONDO_0012554 COFS syndrome caused by mutation in ERCC1|cerebrooculofacioskeletal syndrome 4; COFS4|cerebrooculofacioskeletal syndrome type 4|COFS4|ERCC1 COFS syndrome|cerebrooculofacioskeletal syndrome 4 HP:0001751 Vestibular dysfunction biolink:PhenotypicFeature mondo UMLS:C1843865 An abnormality of the functioning of the vestibular apparatus. http://purl.obolibrary.org/obo/HP_0001751 Impaired vestibular function|Interictal vestibular dysfunction|Vestibular function defect MONDO:0012551 AA2 biolink:Disease mondo OMIM:610753|MESH:C565186|UMLS:C1853104 MESH:C565186|http://identifiers.org/omim/610753|UMLS:C1853104 http://purl.obolibrary.org/obo/MONDO_0012551 AA2|alopecia areata 2|alopecia areata 2; AA2 MONDO:0012552 multiple endocrine neoplasia type 4 biolink:Disease mondo UMLS:C4274947|DOID:0080137|UMLS:C1970712|Orphanet:276152|OMIM:610755|MESH:C567059|SCTID:715907003|ICD10:D44.8 Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. UMLS:C4274947|DOID:0080137|SNOMEDCT:715907003|http://identifiers.org/omim/610755|ORPHA:276152|MESH:C567059|UMLS:C1970712 http://purl.obolibrary.org/obo/MONDO_0012552 MEN4|CDKN1B multiple endocrine neoplasia|multiple endocrine neoplasia caused by mutation in CDKN1B|multiple endocrine neoplasia, type 4|multiple endocrine neoplasia, type IV|multiple endocrine neoplasia, type IV; MEN4 ordo_disease MONDO:0036501 refractory malignant neoplasm biolink:Disease mondo NCIT:C120186|UMLS:C0677936 A malignant neoplasm that does not respond to treatment. UMLS:C0677936|NCIT:C120186 http://purl.obolibrary.org/obo/MONDO_0036501 refractory cancer|refractory malignant neoplasm|resistant cancer|clinical resistance MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome biolink:Disease mondo UMLS:C4305259|SCTID:718713000|OMIM:610773|UMLS:C1835845|MESH:C563665|ICD10:G71.3|Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. ORPHA:91130|UMLS:C4305259|SNOMEDCT:718713000|http://identifiers.org/omim/610773|MESH:C563665|UMLS:C1835845 http://purl.obolibrary.org/obo/MONDO_0012557 mitochondrial phosphate carrier deficiency|hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome|Mpcd ordo_disease MONDO:0012558 epiphyseal dysplasia, Baumann type biolink:Disease mondo OMIM:610797|UMLS:C1835830|MESH:C563664 http://identifiers.org/omim/610797|MESH:C563664|UMLS:C1835830 http://purl.obolibrary.org/obo/MONDO_0012558 epiphyseal dysplasia, Baumann type HGNC:11998 TP53 biolink:OntologyClass mondo http://identifiers.org/hgnc/11998 MONDO:0012555 Cornelia de Lange syndrome 3 biolink:Disease mondo UMLS:C1853099|OMIM:610759 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene. http://identifiers.org/omim/610759|UMLS:C1853099 http://purl.obolibrary.org/obo/MONDO_0012555 Cornelia De Lange syndrome type 3|Cornelia de Lange syndrome caused by mutation in SMC3|Cornelia de Lange syndrome caused by mutation in Smc3|Cornelia DE Lange syndrome 3; CDLS3|Cornelia de Lange syndrome 3|CDLS3|SMC3 Cornelia de Lange syndrome|Smc3 Cornelia de Lange syndrome MONDO:0012556 DK1-CDG biolink:Disease mondo MESH:C563666|GARD:0012393|ICD10:E77.8|Orphanet:91131|SCTID:718712005|OMIM:610768 DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. ORPHA:91131|http://identifiers.org/omim/610768|SNOMEDCT:718712005|MESH:C563666 http://purl.obolibrary.org/obo/MONDO_0012556 dolichol kinase deficiency|CDG syndrome type Im|hypotonia and ichthyosis due to dolichol phosphate deficiency|congenital disorder of glycosylation type Im|DOLK-CDG (CDG-Im)|congenital disorder of glycosylation, type Im; CDG1M|Dk1 deficiency|CDG Im|congenital disorder of glycosylation type 1m|CDG-Im|CDGIm|CDG1M|carbohydrate deficient glycoprotein syndrome type Im|congenital disorder of glycosylation, type Im ordo_disease MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 biolink:Disease mondo UMLS:C1834846|OMIM:157640 Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. http://identifiers.org/omim/157640|UMLS:C1834846 http://purl.obolibrary.org/obo/MONDO_0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; PEOA1|autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG|POLG autosomal dominant progressive external ophthalmoplegia|progressive external ophthalmoplegia, autosomal dominant 1|PEOA1 UBERON:0008196 muscle of pectoral girdle biolink:AnatomicalEntity mondo Any muscle organ that is part of a pectoral girdle region. http://purl.obolibrary.org/obo/UBERON_0008196 muscle of shoulder girdle|pectoral girdle muscle HGNC:21307 DSG4 biolink:OntologyClass mondo http://identifiers.org/hgnc/21307 MONDO:0024527 glomerulopathy with fibronectin deposits 1 biolink:Disease mondo OMIM:137950 http://identifiers.org/omim/137950 http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with giant fibrillar deposits|lobular glomerulopathy, familial|glomerulopathy with fibronectin deposits 1; GFND1|GFND1 ENVO:01001299 atmospheric zone biolink:OntologyClass mondo An environmental zone which is part of an atmosphere. http://purl.obolibrary.org/obo/ENVO_01001299 atmospheric area MONDO:0024529 MVP1 biolink:Disease mondo OMIM:157700|UMLS:CN074267|GARD:0003688 http://identifiers.org/omim/157700|UMLS:CN074267 http://purl.obolibrary.org/obo/MONDO_0024529 prolapsed mitral valve|mitral valve prolapse, familial, X-linked|floppy mitral valve|PMV|barlow syndrome|mitral valve prolapse, myxomatous 1|mitral valve prolapse, familial|MVP1|click-murmur syndrome|myxomatous valvular disease, familial|myxomatous mitral valve prolapse 1|mitral regurgitation, familial|mitral valve prolapse 1; MVP1 HGNC:21308 ELOVL5 biolink:OntologyClass mondo http://identifiers.org/hgnc/21308 MONDO:0012550 iris pattern biolink:Disease mondo OMIM:610744|UMLS:C1853115 http://identifiers.org/omim/610744|UMLS:C1853115 http://purl.obolibrary.org/obo/MONDO_0012550 iris pattern GO:0051355 proprioception involved in equilibrioception biolink:OntologyClass mondo The series of events contributing to equilibrioception by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception plays an important role in the ability of an organism to perceive its orientation with respect to gravity. http://purl.obolibrary.org/obo/GO_0051355 equilibrioception by proprioception|perception of orientation with respect to gravity by proprioception|proprioception during equilibrioception GO:0051356 visual perception involved in equilibrioception biolink:OntologyClass mondo The series of events during equilibrioception required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual input plays an important role in the ability of an organism to perceive its orientation with respect to gravity. http://purl.obolibrary.org/obo/GO_0051356 visual perception during equilibrioception|equilibrioception by visual perception|perception of orientation with respect to gravity by visual perception GO:1903109 positive regulation of mitochondrial transcription biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of transcription occuring in the mitochondrion. http://purl.obolibrary.org/obo/GO_1903109 positive regulation of mitochondrial transcription|upregulation of transcription from mitochondrial promoter|upregulation of mitochondrial transcription|up-regulation of transcription from mitochondrial promoter|up-regulation of mitochondrial transcription|up regulation of transcription from mitochondrial promoter|activation of transcription from mitochondrial promoter|positive regulation of transcription from mitochondrial promoter|up regulation of mitochondrial transcription|activation of mitochondrial transcription GO:1903108 regulation of mitochondrial transcription biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of transcription occuring in the mitochondrion. http://purl.obolibrary.org/obo/GO_1903108 regulation of transcription from mitochondrial promoter|regulation of mitochondrial transcription HGNC:11957 MED12 biolink:OntologyClass mondo http://identifiers.org/hgnc/11957 HGNC:6631 LMAN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6631 UBERON:0011745 pulmonary valve leaflets biolink:AnatomicalEntity mondo A cardiac valve leaflet that is part of a pulmonary valve. http://purl.obolibrary.org/obo/UBERON_0011745 HGNC:11960 GIGYF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11960 HGNC:6636 LMNA biolink:OntologyClass mondo http://identifiers.org/hgnc/6636 HGNC:6637 LMNB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6637 HGNC:6638 LMNB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6638 IAO:0000116 editor note biolink:OntologyClass mondo http://purl.obolibrary.org/obo/IAO_0000116 GO:0051350 negative regulation of lyase activity biolink:OntologyClass mondo Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. http://purl.obolibrary.org/obo/GO_0051350 down-regulation of lyase activity|lyase inhibitor|downregulation of lyase activity|down regulation of lyase activity|inhibition of lyase activity IAO:0000115 definition biolink:OntologyClass mondo http://purl.obolibrary.org/obo/IAO_0000115 GO:0051353 positive regulation of oxidoreductase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. http://purl.obolibrary.org/obo/GO_0051353 oxidoreductase activator|up-regulation of oxidoreductase activity|up regulation of oxidoreductase activity|activation of oxidoreductase activity|ribonucleotide reductase activating enzyme activity|stimulation of oxidoreductase activity|upregulation of oxidoreductase activity GO:0051354 negative regulation of oxidoreductase activity biolink:OntologyClass mondo Any process that stops or reduces the rate of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. http://purl.obolibrary.org/obo/GO_0051354 inhibition of oxidoreductase activity|downregulation of oxidoreductase activity|down-regulation of oxidoreductase activity|oxidoreductase inhibitor|down regulation of oxidoreductase activity GO:0051351 positive regulation of ligase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. http://purl.obolibrary.org/obo/GO_0051351 up-regulation of ligase activity|up regulation of ligase activity|ligase activator|activation of ligase activity|stimulation of ligase activity|upregulation of ligase activity GO:0051352 negative regulation of ligase activity biolink:OntologyClass mondo Any process that stops or reduces the rate of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. http://purl.obolibrary.org/obo/GO_0051352 down-regulation of ligase activity|down regulation of ligase activity|ligase inhibitor|inhibition of ligase activity|downregulation of ligase activity NCBITaxon:1891762 Human polyomavirus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1891762 Human polyomavirus BKV|Polyomavirus hominis 1|BK virus|human polyomavirus type BK BKV|BK virus BKV|BKV|polyomavirus BK|Human polyomavirus BK|Papovavirus BKV|BK polyomavirus|Human polyomavirus (type BK) UBERON:0011742 aortic valve leaflet biolink:AnatomicalEntity mondo A cardiac valve leaflet that is part of a aortic valve. http://purl.obolibrary.org/obo/UBERON_0011742 aortic valve leaflets UBERON:0011741 cardiac valve leaflet biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011741 valve leaflet IAO:0000120 metadata complete biolink:OntologyClass mondo Class has all its metadata, but is either not guaranteed to be in its final location in the asserted IS_A hierarchy or refers to another class that is not complete. http://purl.obolibrary.org/obo/IAO_0000120 HGNC:11976 TNXB biolink:OntologyClass mondo http://identifiers.org/hgnc/11976 HGNC:6649 LMOD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6649 IAO:0000125 pending final vetting biolink:OntologyClass mondo All definitions, placement in the asserted IS_A hierarchy and required minimal metadata are complete. The class is awaiting a final review by someone other than the term editor. http://purl.obolibrary.org/obo/IAO_0000125 IAO:0000123 metadata incomplete biolink:OntologyClass mondo Class is being worked on; however, the metadata (including definition) are not complete or sufficiently clear to the branch editors. http://purl.obolibrary.org/obo/IAO_0000123 IAO:0000124 uncurated biolink:OntologyClass mondo Nothing done yet beyond assigning a unique class ID and proposing a preferred term. http://purl.obolibrary.org/obo/IAO_0000124 IAO:0000121 organizational term biolink:OntologyClass mondo term created to ease viewing/sort terms for development purpose, and will not be included in a release http://purl.obolibrary.org/obo/IAO_0000121 IAO:0000122 ready for release biolink:OntologyClass mondo Class has undergone final review, is ready for use, and will be included in the next release. Any class lacking "ready_for_release" should be considered likely to change place in hierarchy, have its definition refined, or be obsoleted in the next release. Those classes deemed "ready_for_release" will also derived from a chain of ancestor classes that are also "ready_for_release." http://purl.obolibrary.org/obo/IAO_0000122 HGNC:11937 CD70 biolink:OntologyClass mondo http://identifiers.org/hgnc/11937 HGNC:11936 FASLG biolink:OntologyClass mondo http://identifiers.org/hgnc/11936 GO:2000765 regulation of cytoplasmic translation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cytoplasmic translation. http://purl.obolibrary.org/obo/GO_2000765 HGNC:11935 CD40LG biolink:OntologyClass mondo http://identifiers.org/hgnc/11935 GO:2000766 negative regulation of cytoplasmic translation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation. http://purl.obolibrary.org/obo/GO_2000766 HGNC:11934 TNFSF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11934 GO:2000767 positive regulation of cytoplasmic translation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. http://purl.obolibrary.org/obo/GO_2000767 HGNC:6654 LMX1B biolink:OntologyClass mondo http://identifiers.org/hgnc/6654 GO:1903131 mononuclear cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. http://purl.obolibrary.org/obo/GO_1903131 HGNC:11943 TNNC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11943 IAO:0000136 is about biolink:OntologyClass mondo A (currently) primitive relation that relates an information artifact to an entity. http://purl.obolibrary.org/obo/IAO_0000136 HGNC:11948 TNNT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/11948 HGNC:11947 TNNI3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11947 HGNC:11946 TNNI2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11946 HGNC:11949 TNNT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/11949 HGNC:6664 LOX biolink:OntologyClass mondo http://identifiers.org/hgnc/6664 HGNC:6665 LOXL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6665 HGNC:11950 TNNT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/11950 HGNC:4006 FUCA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4006 HGNC:6663 LORICRIN biolink:OntologyClass mondo http://identifiers.org/hgnc/6663 NCBITaxon:2039 Tropheryma whipplei organism taxon mondo PMID:1377787|PMID:10843039|PMID:11491348|GC_ID:11|PMID:10555351|PMID:8863438 http://purl.obolibrary.org/obo/NCBITaxon_2039 Whipple's disease-associated bacterium|Tropheryma whippelii|Whipple's bacillus NCBITaxon:2038 Tropheryma organism taxon mondo PMID:1377787|PMID:11491348|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_2038 MONDO:0000513 bone ameloblastoma biolink:Disease mondo DOID:0050895 A ameloblastoma that involves the bone tissue. DOID:0050895 http://purl.obolibrary.org/obo/MONDO_0000513 bone tissue ameloblastoma|ameloblastoma of bone tissue MONDO:0000512 obsolete ameloblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000512 NCBITaxon:2037 Actinomycetales organism taxon mondo PMID:19244447|PMID:28840812|GC_ID:11|PMID:10028252|PMID:16558735 http://purl.obolibrary.org/obo/NCBITaxon_2037 MONDO:0000511 obsolete gallbladder adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000511 MONDO:0000510 synucleinopathy biolink:Disease mondo DOID:0050890 A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ] DOID:0050890 http://purl.obolibrary.org/obo/MONDO_0000510 synucleinopathies|alpha synucleinopathies HGNC:11919 CD40 biolink:OntologyClass mondo http://identifiers.org/hgnc/11919 HGNC:11918 TNFRSF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/11918 HGNC:11916 TNFRSF1A biolink:OntologyClass mondo http://identifiers.org/hgnc/11916 HGNC:4012 FUT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4012 HGNC:6677 LPL biolink:OntologyClass mondo http://identifiers.org/hgnc/6677 HGNC:4010 FUS biolink:OntologyClass mondo http://identifiers.org/hgnc/4010 MONDO:0012502 normophosphatemic familial tumoral calcinosis biolink:Disease mondo MESH:C566473|DOID:0080170|GARD:0010878|ICD10:M11.2|Orphanet:306658|OMIM:610455 ORPHA:306658|DOID:0080170|MESH:C566473|http://identifiers.org/omim/610455 http://purl.obolibrary.org/obo/MONDO_0012502 calcinosis, tumoral, with Normophosphatemia|tumoral calcinosis, normophosphatemic, familial; NFTC|NFTC|tumoral calcinosis, normophosphatemic, familial|familial normophosphatemic tumoral calcinosis gard_rare|ordo_clinical_subtype HGNC:11922 CD27 biolink:OntologyClass mondo http://identifiers.org/hgnc/11922 MONDO:0012503 thiopurine S-methyltransferase deficiency biolink:Disease mondo OMIM:610460|DOID:0080172|SCTID:238012003|GARD:0005173|Orphanet:3315|MESH:C536512 An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity. SNOMEDCT:238012003|ORPHA:3315|DOID:0080172|MESH:C536512|http://identifiers.org/omim/610460 http://purl.obolibrary.org/obo/MONDO_0012503 poor metabolism of thiopurines-1|rare inborn error of thiopurine S-methyltransferase activity|inborn error of thiopurine S-methyltransferase activity|rare inborn error of thiopurine S-methyltransferase activity|Thiopurines, poor metabolism of|THPM1|thiopurine methyltransferase deficiency|thiopurines, poor metabolism of, 1; THPM1|thiopurine S methyltranferase deficiency|TPMT deficiency|inborn thiopurine S-methyltransferase activity disorder|Thiopurines, poor metabolism of, 1|6-mercaptopurine sensitivity|thiopurine S-methyltransferase deficiency MONDO:0012500 chilblain lupus 1 biolink:Disease mondo OMIM:610448 Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene. http://identifiers.org/omim/610448 http://purl.obolibrary.org/obo/MONDO_0012500 chilblain lupus 1|chilblain lupus 1; CHBL1|TREX1 chilblain lupus|chilblain lupus caused by mutation in TREX1|CHBL1|chilblain lupus type 1 HGNC:11920 FAS biolink:OntologyClass mondo http://identifiers.org/hgnc/11920 MONDO:0012501 mutagen sensitivity biolink:Disease mondo GARD:0008273|OMIM:610452 http://identifiers.org/omim/610452 http://purl.obolibrary.org/obo/MONDO_0012501 mutagen sensitivity gard_rare MONDO:0000506 obsolete Caroli disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000506 MONDO:0000505 obsolete small cell neuroendocrine carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000505 MONDO:0000504 obsolete follicular lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000504 MONDO:0000503 lung adenocarcinoma in situ biolink:Disease mondo DOID:0050870|ONCOTREE:LAIS|NCIT:C8748|NCIT:C136486|UMLS:C0854971 A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion. DOID:0050870|NCIT:C8748|UMLS:C0854971|NCIT:C136486 http://purl.obolibrary.org/obo/MONDO_0000503 stage 0 adenosquamous lung cancer|bronchioloalveolar carcinoma|bronchioalveolar carcinoma|lung adenosquamous cell carcinoma in situ|stage 0 adenosquamous cell carcinoma of lung|lung adenocarcinoma In situ|adenosquamous cell carcinoma in situ of lung|stage 0 adenosquamous cell carcinoma of the lung|adenosquamous cell carcinoma in situ of the lung|stage 0 adenosquamous lung carcinoma aJCC v7|stage 0 adenosquamous lung carcinoma aJCC v6 and v7|stage 0 adenosquamous lung carcinoma aJCC v6|in situ pulmonary adenocarcinoma|stage 0 adenosquamous cell lung carcinoma HGNC:4017 FUT6 biolink:OntologyClass mondo http://identifiers.org/hgnc/4017 MONDO:0000509 non-syndromic intellectual disability biolink:Disease mondo DOID:0050889 An intellectual disability that is not part of a larger syndrome. DOID:0050889 http://purl.obolibrary.org/obo/MONDO_0000509 nonsyndromic intellectual disability|isolated intellectual disability|isolated intellectual disability MONDO:0000508 syndromic intellectual disability biolink:Disease mondo DOID:0050888|UMLS:CN225415 A intellectual disability that is part of a larger syndrome. UMLS:CN225415|DOID:0050888 http://purl.obolibrary.org/obo/MONDO_0000508 syndrome associated with intellectual disability|syndromic intellectual disability|syndrome associated with intellectual disability MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia biolink:Disease mondo ICD10:G71.8|UMLS:C1833662|DOID:0050881|Orphanet:52430|GARD:0010899|OMIMPS:167320|SCTID:703544004|DC:0000545 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. DOID:0050881|ORPHA:52430|SNOMEDCT:703544004|UMLS:C1833662 http://purl.obolibrary.org/obo/MONDO_0000507 IBMPFD|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia|limb-girdle muscular dystrophy with Paget disease of bone|inclusion body myopathy with early-onset Paget disease and frontotemporal dementia|inclusion body myopathy/Paget disease/frontotemporal dementia|inclusion body myopathy with Paget's disease of bone and frontotemporal dementia|pagetoid neuroskeletal syndrome|pagetoid amyotrophic lateral sclerosis ordo_disease MONDO:0000520 parietal lobe ependymal tumor biolink:Disease mondo NCIT:C131575|DOID:0050903|UMLS:C4330935 An ependymal tumor affecting the parietal lobe of the brain. UMLS:C4330935|NCIT:C131575|DOID:0050903 http://purl.obolibrary.org/obo/MONDO_0000520 parietal lobe ependymal tumor|ependymal tumor of parietal lobe|parietal lobe ependymoma NCBITaxon:2049 Actinomycetaceae organism taxon mondo PMID:19244447|GC_ID:11|PMID:30186281|PMID:16558803 http://purl.obolibrary.org/obo/NCBITaxon_2049 MONDO:0000524 mixed extragonadal germ cell cancer biolink:Disease mondo DOID:0050907 A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle. DOID:0050907 http://purl.obolibrary.org/obo/MONDO_0000524 MONDO:0000523 obsolete conjunctival nevus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000523 MONDO:0000522 obsolete inflammatory myofibroblastic tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000522 MONDO:0000521 salivary gland carcinoma biolink:Disease mondo UMLS:C0948750|DOID:0050904|ONCOTREE:SACA|NCIT:C9272 A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma. UMLS:C0948750|NCIT:C9272|DOID:0050904 http://purl.obolibrary.org/obo/MONDO_0000521 carcinoma of the salivary gland|salivary gland cancer|salivary gland carcinoma|carcinoma of saliva-secreting gland|saliva-secreting gland carcinoma|salivary carcinoma|carcinoma of salivary gland HGNC:11926 TNFSF11 biolink:OntologyClass mondo http://identifiers.org/hgnc/11926 UBERON:0011779 nerve of head region biolink:AnatomicalEntity mondo A nerve that is part of a head. http://purl.obolibrary.org/obo/UBERON_0011779 head nerve|cephalic nerve UBERON:0011777 nucleus of spinal cord biolink:AnatomicalEntity mondo A neural nucleus that is part of the spinal cord. http://purl.obolibrary.org/obo/UBERON_0011777 spinal cord nucleus CHEBI:16526 carbon dioxide biolink:ChemicalSubstance mondo A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food. http://purl.obolibrary.org/obo/CHEBI_16526 methanedione|dioxidocarbon|CO2|carbonic anhydride|E290|[CO2]|E-290|carbon dioxide|E 290|Carbon dioxide|CARBON DIOXIDE|R-744 MONDO:0000517 brain stem medulloblastoma biolink:Disease mondo DOID:0050899 A medulloblastoma that involves the brainstem. DOID:0050899 http://purl.obolibrary.org/obo/MONDO_0000517 medulloblastoma of brainstem|brainstem medulloblastoma MONDO:0000516 phalanx chondroma biolink:Disease mondo DOID:0050898 A chondroma that involves the phalanx. DOID:0050898 http://purl.obolibrary.org/obo/MONDO_0000516 phalanx chondroma MONDO:0000515 bone chondrosarcoma biolink:Disease mondo DOID:0050897 A chondrosarcoma (disease) that involves the bone tissue. DOID:0050897 http://purl.obolibrary.org/obo/MONDO_0000515 chondrosarcoma (disease) of bone tissue|bone tissue chondrosarcoma (disease) MONDO:0000514 bone squamous cell carcinoma biolink:Disease mondo DOID:0050896 A squamous cell carcinoma that involves the bone tissue. DOID:0050896 http://purl.obolibrary.org/obo/MONDO_0000514 bone tissue squamous cell carcinoma HGNC:4026 FXYD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4026 MONDO:0000519 corpus callosum oligodendroglioma biolink:Disease mondo DOID:0050901 A oligodendroglioma that involves the corpus callosum. DOID:0050901 http://purl.obolibrary.org/obo/MONDO_0000519 corpus callosum oligodendroglioma|oligodendroglioma of corpus callosum MONDO:0000518 sacrum chordoma biolink:Disease mondo UMLS:C3164279|SCTID:447730004|DOID:0050900 A chordoma (disease) that involves the fused sacrum. DOID:0050900|SNOMEDCT:447730004|UMLS:C3164279 http://purl.obolibrary.org/obo/MONDO_0000518 fused sacrum chordoma (disease)|chordoma (disease) of fused sacrum HGNC:6685 LRAT biolink:OntologyClass mondo http://identifiers.org/hgnc/6685 UBERON:0011775 vagus nerve nucleus biolink:AnatomicalEntity mondo A cranial nerve nucleus that is associated with a vagus nerve. http://purl.obolibrary.org/obo/UBERON_0011775 nucleus of Xth nerve|vagal nucleus|nucleus of vagus nerve|tenth cranial nerve nucleus|nucleus of vagal nerve|vagal X nucleus|nodosal nucleus|vagus nucleus|nucleus of vagal X nerve GO:1903169 regulation of calcium ion transmembrane transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of calcium ion transmembrane transport. http://purl.obolibrary.org/obo/GO_1903169 regulation of transmembrane calcium transport|regulation of calcium ion membrane transport GO:2000725 regulation of cardiac muscle cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation. http://purl.obolibrary.org/obo/GO_2000725 regulation of cardiomyocyte differentiation|regulation of heart muscle cell differentiation GO:2000726 negative regulation of cardiac muscle cell differentiation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation. http://purl.obolibrary.org/obo/GO_2000726 negative regulation of heart muscle cell differentiation|negative regulation of cardiomyocyte differentiation UBERON:0011773 upper jaw opening biolink:AnatomicalEntity mondo An anatomical space that is part of a bone of upper jaw. http://purl.obolibrary.org/obo/UBERON_0011773 UBERON:0011772 lower jaw opening biolink:AnatomicalEntity mondo An anatomical space that is part of a bone of lower jaw. http://purl.obolibrary.org/obo/UBERON_0011772 GO:2000727 positive regulation of cardiac muscle cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation. http://purl.obolibrary.org/obo/GO_2000727 positive regulation of cardiomyocyte differentiation|positive regulation of heart muscle cell differentiation HGNC:6697 LRP5 biolink:OntologyClass mondo http://identifiers.org/hgnc/6697 UBERON:0011767 right recurrent laryngeal nerve biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011767 vagus X nerve right recurrent laryngeal branch|right recurrent laryngeal nerve|right recurrent laryngeal branch HGNC:6698 LRP6 biolink:OntologyClass mondo http://identifiers.org/hgnc/6698 UBERON:0011766 left recurrent laryngeal nerve biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011766 left recurrent laryngeal branch|vagus X nerve left recurrent laryngeal branch|left recurrent laryngeal nerve UBERON:0011769 cartilaginous projection biolink:AnatomicalEntity mondo Anatomical projection that is composed of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0011769 cartilaginous process|cartilage process GO:1903170 negative regulation of calcium ion transmembrane transport biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transport. http://purl.obolibrary.org/obo/GO_1903170 down regulation of transmembrane calcium transport|downregulation of calcium ion membrane transport|downregulation of transmembrane calcium transport|inhibition of transmembrane calcium transport|down-regulation of calcium ion transmembrane transport|down regulation of calcium ion membrane transport|down regulation of calcium ion transmembrane transport|inhibition of calcium ion membrane transport|negative regulation of calcium ion membrane transport|down-regulation of calcium ion membrane transport|inhibition of calcium ion transmembrane transport|downregulation of calcium ion transmembrane transport|down-regulation of transmembrane calcium transport|negative regulation of transmembrane calcium transport HGNC:6692 LRP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6692 HGNC:6694 LRP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6694 HGNC:4036 FYB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4036 HGNC:6696 LRP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6696 HGNC:4035 ACKR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4035 HGNC:11909 TNFRSF11B biolink:OntologyClass mondo http://identifiers.org/hgnc/11909 MONDO:0000502 villous adenoma biolink:Disease mondo MESH:D018253|UMLS:C0206674|ICDO:8261/0|DOID:0050869|NCIT:C7399 An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina. NCIT:C7399|DOID:0050869|UMLS:C0206674|MESH:D018253 http://purl.obolibrary.org/obo/MONDO_0000502 villous adenoma MONDO:0000501 obsolete Jensen syndrome biolink:Disease mondo GARD:0003046|UMLS:C1839564|DOID:0050867|MESH:C537568 DOID:0050867|MESH:C537568|UMLS:C1839564 http://purl.obolibrary.org/obo/MONDO_0000501 nerve deafness optic nerve atrophy, and dementia|syndrome of opticoacoustic nerve atrophy with dementia|deafness-opticoacoustic nerve atrophy-dementia syndrome|Opticoacustic nerve atrophy with dementia|Jensen syndrome|opticoacoustic nerve atrophy with dementia gard_rare MONDO:0000500 tongue squamous cell carcinoma biolink:Disease mondo NCIT:C4648|SCTID:276952000|DOID:0050865|UMLS:C0349566|EFO:1000055 A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis. DOID:0050865|UMLS:C0349566|NCIT:C4648|SNOMEDCT:276952000 http://purl.obolibrary.org/obo/MONDO_0000500 tongue scc|squamous cell carcinoma of tongue|squamous cell carcinoma of the tongue|scc of tongue|scc of the tongue|tongue squamous cell carcinoma HGNC:11908 TNFRSF11A biolink:OntologyClass mondo http://identifiers.org/hgnc/11908 GO:2000736 regulation of stem cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of stem cell differentiation. http://purl.obolibrary.org/obo/GO_2000736 GO:2000737 negative regulation of stem cell differentiation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation. http://purl.obolibrary.org/obo/GO_2000737 HGNC:11905 TNFRSF10B biolink:OntologyClass mondo http://identifiers.org/hgnc/11905 GO:2000738 positive regulation of stem cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of stem cell differentiation. http://purl.obolibrary.org/obo/GO_2000738 UBERON:0011757 differentiated genital tubercle biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0011757 primordial phallus|phallus primordialis|phallus HGNC:4044 FZD6 biolink:OntologyClass mondo http://identifiers.org/hgnc/4044 UBERON:0011756 male genital swelling biolink:AnatomicalEntity mondo A genital swelling that is part of a male reproductive organ. http://purl.obolibrary.org/obo/UBERON_0011756 scrotal bulge|labioscrotal swelling of male|scrotal primordium UBERON:0011755 female labial swelling biolink:AnatomicalEntity mondo A genital swelling that is part of a female reproductive system. http://purl.obolibrary.org/obo/UBERON_0011755 labial swelling|labial primordium|labioscrotal swelling of female HGNC:4042 FZD4 biolink:OntologyClass mondo http://identifiers.org/hgnc/4042 UBERON:0011754 genital swelling biolink:AnatomicalEntity mondo Paired structures in the embryo that represent the final stage of development of the caudal end of the external genitals before sexual differentiation. In both males and females the two swellings merge: in the female, they become the posterior labial commissure; In the male, they become the scrotum http://purl.obolibrary.org/obo/UBERON_0011754 tuberculum labioscrotale|labioscrotal swelling IAO:0000103 failed exploratory term biolink:OntologyClass mondo The term was used in an attempt to structure part of the ontology but in retrospect failed to do a good job http://purl.obolibrary.org/obo/IAO_0000103 CHEBI:16541 protein polypeptide chain biolink:ChemicalSubstance mondo A naturally occurring polypeptide synthesized at the ribosome. http://purl.obolibrary.org/obo/CHEBI_16541 Protein|protein polypeptide chains|polypeptide chain IAO:0000102 data about an ontology part biolink:OntologyClass mondo data about an ontology part is a data item about a part of an ontology, for example a term http://purl.obolibrary.org/obo/IAO_0000102 UBERON:0008114 joint of girdle biolink:AnatomicalEntity mondo A skeletal joint that is part of a appendage girdle region. http://purl.obolibrary.org/obo/UBERON_0008114 girdle joint UBERON:0008115 surface of cartilage biolink:AnatomicalEntity mondo A anatomical surface that is part of a cartilage element. http://purl.obolibrary.org/obo/UBERON_0008115 cartilage surface GO:0002349 histamine production involved in inflammatory response biolink:OntologyClass mondo The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002349 histamine production involved in acute inflammatory response GO:0002343 peripheral B cell selection biolink:OntologyClass mondo Any B cell selection process that occurs in the periphery. http://purl.obolibrary.org/obo/GO_0002343 peripheral B-lymphocyte selection|peripheral B-cell selection|peripheral B lymphocyte selection GO:0002344 B cell affinity maturation biolink:OntologyClass mondo The process in which B cells produce antibodies with increased antigen affinity. This is accomplished by somatic hypermutation and selection for B cells which produce higher affinity antibodies to antigen. http://purl.obolibrary.org/obo/GO_0002344 B-lymphocyte affinity maturation|B-cell affinity maturation|B lymphocyte affinity maturation NCBITaxon:2085 Mycoplasmatales organism taxon mondo PMID:16350067|GC_ID:4 http://purl.obolibrary.org/obo/NCBITaxon_2085 Borrelomycetales|Mollicutales|Paramycetales|Pleuropneumoniales|The Mycoplasmas|Mycoplasmas IAO:0000078 curation status specification biolink:OntologyClass mondo The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. http://purl.obolibrary.org/obo/IAO_0000078 GO:0002351 serotonin production involved in inflammatory response biolink:OntologyClass mondo The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002351 serotonin production involved in acute inflammatory response GO:0016999 antibiotic metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving an antibiotic, a substance produced by or derived from certain fungi, bacteria, and other organisms, that can destroy or inhibit the growth of other microorganisms. http://purl.obolibrary.org/obo/GO_0016999 antibiotic metabolism NCBITaxon:2093 Mycoplasma organism taxon mondo PMID:11411711|PMID:25288662|PMID:8863441|PMID:10826816|PMID:15176735|PMID:13403276|PMID:16403858|PMID:16350067|PMID:11321109|PMID:11931184|PMID:8995799|GC_ID:4 http://purl.obolibrary.org/obo/NCBITaxon_2093 Pleuropneumonia|Borrelomyces|Haemobartonella|Asterococcus|Eperythrozoon|Bovimyces|Asteromyces NCBITaxon:2092 Mycoplasmataceae organism taxon mondo PMID:13403276|PMID:16350067|GC_ID:4 http://purl.obolibrary.org/obo/NCBITaxon_2092 Pleuropneumoniaceae|Borrelomycetaceae|Parasitaceae GO:1905706 regulation of mitochondrial ATP synthesis coupled proton transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport. http://purl.obolibrary.org/obo/GO_1905706 GO:1905707 negative regulation of mitochondrial ATP synthesis coupled proton transport biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport. http://purl.obolibrary.org/obo/GO_1905707 GO:0002335 mature B cell differentiation biolink:OntologyClass mondo The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. http://purl.obolibrary.org/obo/GO_0002335 mature B-cell differentiation|mature B lymphocyte differentiation|mature B-lymphocyte differentiation|mature cell development GO:0051302 regulation of cell division biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells. http://purl.obolibrary.org/obo/GO_0051302 GO:0051301 cell division biolink:OntologyClass mondo The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. http://purl.obolibrary.org/obo/GO_0051301 GO:0002339 B cell selection biolink:OntologyClass mondo The process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival. http://purl.obolibrary.org/obo/GO_0002339 B-cell selection|B lymphocyte selection|B-lymphocyte selection UBERON:0011830 duct of lesser vestibular gland biolink:AnatomicalEntity mondo A duct that is part of a minor vestibular gland. http://purl.obolibrary.org/obo/UBERON_0011830 lesser vestibular gland duct UBERON:0011823 dense connective tissue biolink:AnatomicalEntity mondo Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets http://purl.obolibrary.org/obo/UBERON_0011823 UBERON:0011822 dense irregular connective tissue biolink:AnatomicalEntity mondo Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/UBERON_0011822 irregular dense connective tissue|typus irregularis (textus connectivus collagenosus compactus) UBERON:0011821 irregular connective tissue biolink:AnatomicalEntity mondo Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/UBERON_0011821 IAO:0000030 information content entity biolink:OntologyClass mondo A generically dependent continuant that is about some thing. http://purl.obolibrary.org/obo/IAO_0000030 UBERON:0011820 atrioventricular region biolink:AnatomicalEntity mondo An anatomical junction that divides and overlaps with and atrium and a ventricle in the heart. http://purl.obolibrary.org/obo/UBERON_0011820 atrioventricular junction|AV segment|atrial ventricular junction|AV region|atrioventricular segment UBERON:0011826 vestibular gland biolink:AnatomicalEntity mondo Lobular organ the parenchyma of which consists of glandular acini which communicate with the vestibule of vagina. Examples: right vestibular gland, lesser vestibular gland. http://purl.obolibrary.org/obo/UBERON_0011826 UBERON:0011825 loose connective tissue biolink:AnatomicalEntity mondo Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. http://purl.obolibrary.org/obo/UBERON_0011825 textus connectivus laxus|textus connectivus collagenosus laxus UBERON:0011824 fibrous connective tissue biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011824 GO:0002313 mature B cell differentiation involved in immune response biolink:OntologyClass mondo The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response. http://purl.obolibrary.org/obo/GO_0002313 mature B-cell differentiation during immune response|mature B cell differentiation during immune response|mature B cell development involved in immune response|mature B-lymphocyte differentiation during immune response|mature B lymphocyte differentiation during immune response GO:0004972 NMDA glutamate receptor activity biolink:OntologyClass mondo An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. http://purl.obolibrary.org/obo/GO_0004972 N-methyl-D-aspartate selective glutamate receptor activity|NMDA receptor GO:0002312 B cell activation involved in immune response biolink:OntologyClass mondo The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/GO_0002312 B lymphocyte activation during immune response|B-lymphocyte activation during immune response|B cell activation during immune response|B-cell activation during immune response GO:0004970 ionotropic glutamate receptor activity biolink:OntologyClass mondo Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts. http://purl.obolibrary.org/obo/GO_0004970 HGNC:6601 LIG4 biolink:OntologyClass mondo http://identifiers.org/hgnc/6601 UBERON:0011814 non-neurogenic ectodermal placode biolink:AnatomicalEntity mondo Ectodermal placode that does not develop into a component of the nervous system. http://purl.obolibrary.org/obo/UBERON_0011814 OBO:mondo#AMBIGUOUS ambiguous biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#AMBIGUOUS UBERON:0011818 superficial fascia biolink:AnatomicalEntity mondo Superficial fascia is found in the subcutis in most regions of the body, blending with the reticular layer of the dermis. It is present on the face, over the upper portion of the sternocleidomastoid, at the nape of the neck, and overlying the sternum. It is comprised mainly of loose areolar connective tissue and adipose and is the layer that primarily determines the shape of a body. In addition to its subcutaneous presence, this type of fascia surrounds organs and glands, neurovascular bundles, and is found at many other locations where it fills otherwise unoccupied space. It serves as a storage medium of fat and water; as a passageway for lymph, nerve and blood vessels; and as a protective padding to cushion and insulate. Superficial fascia is present, but does not contain fat, in the eyelids, ear, scrotum, penis and clitoris. http://purl.obolibrary.org/obo/UBERON_0011818 superficial fascial layer|tela subcutanea|subcutaneous tissue UBERON:0011817 skin appendage placode biolink:AnatomicalEntity mondo An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). http://purl.obolibrary.org/obo/UBERON_0011817 cutaneous appendage follicle placode|skin follicle placode GO:0051321 meiotic cell cycle biolink:OntologyClass mondo Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. http://purl.obolibrary.org/obo/GO_0051321 meiosis GO:0051336 regulation of hydrolase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. http://purl.obolibrary.org/obo/GO_0051336 hydrolase regulator GO:0051339 regulation of lyase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. http://purl.obolibrary.org/obo/GO_0051339 lyase regulator GO:0051338 regulation of transferase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/GO_0051338 transferase regulator HGNC:6610 LIM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6610 GO:0051346 negative regulation of hydrolase activity biolink:OntologyClass mondo Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds. http://purl.obolibrary.org/obo/GO_0051346 down regulation of hydrolase activity|inhibition of hydrolase activity|down-regulation of hydrolase activity|hydrolase inhibitor|downregulation of hydrolase activity GO:0051347 positive regulation of transferase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://purl.obolibrary.org/obo/GO_0051347 up-regulation of transferase activity|activation of transferase activity|upregulation of transferase activity|up regulation of transferase activity|stimulation of transferase activity|transferase activator GO:0051345 positive regulation of hydrolase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds. http://purl.obolibrary.org/obo/GO_0051345 upregulation of hydrolase activity|up regulation of hydrolase activity|stimulation of hydrolase activity|up-regulation of hydrolase activity|activation of hydrolase activity|hydrolase activator CHEBI:28479 D-tyrosine biolink:ChemicalSubstance mondo An optically active form of tyrosine having D-configuration. http://purl.obolibrary.org/obo/CHEBI_28479 (2R)-2-amino-3-(4-hydroxyphenyl)propanoic acid|DTY|(R)-3-(p-Hydroxyphenyl)alanine|(R)-2-Amino-3-(p-hydroxyphenyl)propionic acid|D-Tyr|D-Tyrosin|D-tyrosine|D-TYROSINE|D-Tyrosine GO:0051348 negative regulation of transferase activity biolink:OntologyClass mondo Any process that stops or reduces the rate of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://purl.obolibrary.org/obo/GO_0051348 downregulation of transferase activity|down regulation of transferase activity|inhibition of transferase activity|down-regulation of transferase activity|transferase inhibitor GO:0051349 positive regulation of lyase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. http://purl.obolibrary.org/obo/GO_0051349 lyase activator|upregulation of lyase activity|stimulation of lyase activity|up regulation of lyase activity|activation of lyase activity|up-regulation of lyase activity HGNC:6617 LIPA biolink:OntologyClass mondo http://identifiers.org/hgnc/6617 HGNC:6619 LIPC biolink:OntologyClass mondo http://identifiers.org/hgnc/6619 GO:0016937 short-branched-chain-acyl-CoA dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue. http://purl.obolibrary.org/obo/GO_0016937 HGNC:6621 LIPE biolink:OntologyClass mondo http://identifiers.org/hgnc/6621 GO:0051340 regulation of ligase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6. http://purl.obolibrary.org/obo/GO_0051340 ligase regulator GO:0051341 regulation of oxidoreductase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://purl.obolibrary.org/obo/GO_0051341 oxidoreductase regulator HP:0011013 Abnormal circulating carbohydrate concentration biolink:PhenotypicFeature mondo UMLS:C4023599 A deviation from the normal concentration of a carbohydrate in the blood circulation. http://purl.obolibrary.org/obo/HP_0011013 HP:0011014 Abnormal glucose homeostasis biolink:PhenotypicFeature mondo UMLS:C4023598 Abnormality of glucose homeostasis. http://purl.obolibrary.org/obo/HP_0011014 HP:0011015 Abnormal blood glucose concentration biolink:PhenotypicFeature mondo UMLS:C4023597 An abnormality of the concentration of glucose in the blood. http://purl.obolibrary.org/obo/HP_0011015 Abnormality of blood glucose concentration HP:0011016 Abnormality of urine glucose concentration biolink:PhenotypicFeature mondo UMLS:C4023596 An abnormality of the concentration of glucose in the urine. http://purl.obolibrary.org/obo/HP_0011016 HP:0011017 Abnormal cellular physiology biolink:PhenotypicFeature mondo UMLS:C4023595 An abnormality in a cellular process. http://purl.obolibrary.org/obo/HP_0011017 Abnormality of cell physiology HP:0001686 Loss of voice biolink:PhenotypicFeature mondo MSH:D001044|SNOMEDCT_US:44564008|UMLS:C0003564|SNOMEDCT_US:441913003 http://purl.obolibrary.org/obo/HP_0001686 Aphonia MONDO:0036591 adrenal cortex neoplasm biolink:Disease mondo NCIT:C2858 A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) NCIT:C2858 http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex tumor|neoplasm of adrenal cortex|adrenocortical neoplasm|adrenocortical tumor|adrenal cortex neoplasm|tumor of adrenal cortex MONDO:0036595 ovarian Sertoli-Leydig cell tumor biolink:Disease mondo NCIT:C2880|SCTID:254866007|UMLS:C0003810|EFO:1000429 A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8. SNOMEDCT:254866007|UMLS:C0003810|NCIT:C2880 http://purl.obolibrary.org/obo/MONDO_0036595 arrhenoblastoma|Arrhenoblastoma|Sertoli-Leydig neoplasm of the ovary|Sertoli-Leydig neoplasm of ovary|ovarian Sertoli-Leydig cell tumor|Androblastoma|androblastoma|Sertoli-Leydig cell tumor of the ovary|Sertoli-Leydig cell tumor of ovary|ovarian Sertoli-Leydig cell neoplasm MONDO:0024597 obsolete CD3epsilon deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024597 HP:0011001 Increased bone mineral density biolink:PhenotypicFeature mondo MSH:D010026|SNOMEDCT_US:49347007|UMLS:C0029464 An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. http://purl.obolibrary.org/obo/HP_0011001 Increased bone density|Osteosclerosis|Increased bone mineral density|Osteosclerosis of bones HP:0011002 Osteopetrosis biolink:PhenotypicFeature mondo MSH:D010022|SNOMEDCT_US:367489004|UMLS:C0029454|SNOMEDCT_US:1926006 Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. http://purl.obolibrary.org/obo/HP_0011002 Albers-Schönberg disease|Marble bone disease|Albers-Schoenberg disease|Albers-Schonberg disease|Harder, denser, fracture-prone bones HP:0011004 Abnormal systemic arterial morphology biolink:PhenotypicFeature mondo UMLS:C0151489|Fyler:2600|SNOMEDCT_US:234119001|UMLS:C4021205 An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. http://purl.obolibrary.org/obo/HP_0011004 Arterial abnormalities|Abnormal systemic artery morphology|Abnormality of the systemic arterial tree|Systemic artery abnormality NCBITaxon:1913638 Zoopagomycota organism taxon mondo GC_ID:1|PMID:27738200 http://purl.obolibrary.org/obo/NCBITaxon_1913638 NCBITaxon:1913637 Mucoromycota organism taxon mondo GC_ID:1|PMID:27738200 http://purl.obolibrary.org/obo/NCBITaxon_1913637 HP:0001697 Abnormal pericardium morphology biolink:PhenotypicFeature mondo Fyler:1900|UMLS:C4025754 An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. http://purl.obolibrary.org/obo/HP_0001697 Abnormality of the pericardium HP:0001698 Pericardial effusion biolink:PhenotypicFeature mondo MSH:D010490|Fyler:1940|SNOMEDCT_US:373945007|UMLS:C0031039 Accumulation of fluid within the pericardium. http://purl.obolibrary.org/obo/HP_0001698 Pericardial effusions|Fluid around heart HP:0011008 Temporal pattern biolink:PhenotypicFeature mondo UMLS:C4021204 The speed at which disease manifestations appear and develop. http://purl.obolibrary.org/obo/HP_0011008 Speed of onset HP:0001669 Transposition of the great arteries biolink:PhenotypicFeature mondo SNOMEDCT_US:204296002|SNOMEDCT_US:26146002|UMLS:C3536741 A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. http://purl.obolibrary.org/obo/HP_0001669 Transposition of great vessels MONDO:0024582 male reproductive system neoplasm biolink:Disease mondo SCTID:126895004|ICD9:239.5|NCIT:C3054 A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma. SNOMEDCT:126895004|NCIT:C3054 http://purl.obolibrary.org/obo/MONDO_0024582 tumor of male reproductive organ|male reproductive organ neoplasm|tumor of Male reproductive system|tumor of the Male reproductive system|Male reproductive system neoplasm|neoplasm of male reproductive organ|male reproductive organ tumor|neoplasm of Male reproductive system|neoplasm of the Male reproductive system|Male reproductive system tumor MONDO:0024581 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024581 MONDO:0024583 obsolete hernia biolink:Disease mondo NCIT:C34685|MESH:D006547|ICD10:K40.K46 The protrusion of part of an organ or fibroadipose tissue through an abnormal opening. MESH:D006547|NCIT:C34685 http://purl.obolibrary.org/obo/MONDO_0024583 hernias|enterocele HP:0001662 Bradycardia biolink:PhenotypicFeature mondo MSH:D001919|UMLS:C0428977|SNOMEDCT_US:48867003 A slower than normal heart rate (in adults, slower than 60 beats per minute). http://purl.obolibrary.org/obo/HP_0001662 Slow heartbeats|Brachycardia HP:0001663 Ventricular fibrillation biolink:PhenotypicFeature mondo UMLS:C0042510|MSH:D014693|SNOMEDCT_US:71908006 Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. http://purl.obolibrary.org/obo/HP_0001663 HP:0001660 Truncus arteriosus biolink:PhenotypicFeature mondo MSH:D014338|Fyler:500|SNOMEDCT_US:58140002|ICD-10:Q20.0|Fyler:0500|UMLS:C4020867|UMLS:C0041206 A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. http://purl.obolibrary.org/obo/HP_0001660 Common arterial trunk|Persistant truncus arteriosus HP:0025634 Abnormal ureter physiology biolink:PhenotypicFeature mondo A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/HP_0025634 MONDO:0024575 pregnancy disorder biolink:Disease mondo SCTID:173300003|MESH:D011248|NCIT:C35169 A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. MESH:D011248|SNOMEDCT:173300003|NCIT:C35169 http://purl.obolibrary.org/obo/MONDO_0024575 disorder of pregnancy|pregnancy disorder|complication, pregnancy|pregnancy disease|complication of pregnancy or childbirth|disorder of pregnancy, childbirth, or puerperium|Complications, pregnancy|pregnancy complication MONDO:0024574 von Willebrand disease (hereditary or acquired) biolink:Disease mondo ICD9:286.4|NCIT:C68677|SCTID:128105004|MESH:D014842|ICD10:D68.0|COHD:434316 Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. NCIT:C68677|MESH:D014842|SNOMEDCT:128105004 http://purl.obolibrary.org/obo/MONDO_0024574 von Willebrand's disease|von Willebrand disorder|von Willebrand disease|VWD HP:0001679 Abnormal aortic morphology biolink:PhenotypicFeature mondo UMLS:C4025756|Fyler:1453 An abnormality of the aorta. http://purl.obolibrary.org/obo/HP_0001679 Abnormality of the aorta|Abnormal aorta morphology MONDO:0024571 AIDS-related disorder biolink:Disease mondo UMLS:C0877121|NCIT:C4991 A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. UMLS:C0877121|NCIT:C4991 http://purl.obolibrary.org/obo/MONDO_0024571 AIDS/HIV - relatedDisease associated with AIDS|disease associated with AIDS|AIDS-related disorder|AIDS-related complications MONDO:0024570 hyperparathyroidism 4 biolink:Disease mondo UMLS:C4479229|OMIM:617343|UMLS:CN240514 Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene. http://identifiers.org/omim/617343|UMLS:C4479229|UMLS:CN240514 http://purl.obolibrary.org/obo/MONDO_0024570 hyperparathyroidism 4; HRPT4|HRPT4|GCM2 familial isolated hyperparathyroidism|familial isolated hyperparathyroidism caused by mutation in GCM2 MONDO:0024573 familial hypertrophic cardiomyopathy biolink:Disease mondo OMIMPS:192600|NCIT:C84773|DOID:0080326|MESH:D024741|GARD:0007229|SCTID:471885006 Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. MESH:D024741|NCIT:C84773|SNOMEDCT:471885006|DOID:0080326 http://purl.obolibrary.org/obo/MONDO_0024573 hereditary hypertrophic cardiomyopathy|hypertrophic familial cardiomyopathy|familial hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic MONDO:0024572 immunodeficiency-related disorder biolink:Disease mondo UMLS:C1334159|NCIT:C35686 A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. UMLS:C1334159|NCIT:C35686 http://purl.obolibrary.org/obo/MONDO_0024572 Immunodepression-related disorder|immunodeficiency-related disorder|Immunosuppression-related disorder|Immunosuppression disorders MONDO:0012597 prostate cancer, hereditary, 9 biolink:Disease mondo MESH:C567031|OMIM:610997|UMLS:C1970250 http://identifiers.org/omim/610997|UMLS:C1970250|MESH:C567031 http://purl.obolibrary.org/obo/MONDO_0012597 HPC9|prostate cancer, hereditary, type 9|prostate cancer, hereditary, 9 MONDO:0012598 GINGF4 biolink:Disease mondo GARD:0002475|OMIM:611010|MESH:C567028 MESH:C567028|http://identifiers.org/omim/611010 http://purl.obolibrary.org/obo/MONDO_0012598 fibromatosis, gingival, 4|fibromatosis gingival, hereditary, 4|gingival fibromatosis, 4|fibromatosis, gingival, hereditary, 4|GGF4|HGF4|hereditary gingival fibromatosis, 4|fibromatosis, gingival, 4; GINGF4|GINGF4 MONDO:0012595 leprosy, susceptibility to, 4 biolink:Disease mondo OMIM:610988 Any leprosy in which the cause of the disease is a mutation in the LTA gene. http://identifiers.org/omim/610988 http://purl.obolibrary.org/obo/MONDO_0012595 leprosy, susceptibility to, type 4|LPRS4|leprosy, susceptibility to, 4; LPRS4|leprosy caused by mutation in LTA|leprosy, early-onset, susceptibility to|LTA leprosy|susceptibility to leprosy 4|leprosy, susceptibility to, 4 predisposition MONDO:0012596 PSAT deficiency biolink:Disease mondo OMIM:610992|MESH:C567032|SCTID:718603002|UMLS:C1970253|Orphanet:284417|DOID:0050723|GARD:0013273|ICD10:E72.8 Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. http://identifiers.org/omim/610992|SNOMEDCT:718603002|UMLS:C1970253|MESH:C567032|ORPHA:284417|DOID:0050723 http://purl.obolibrary.org/obo/MONDO_0012596 phosphoserine aminotransferase deficiency; PSATD|phosphoserine aminotransferase deficiency|PSAT deficiency|PSATD ordo_disease MONDO:0012599 HYT8 biolink:Disease mondo OMIM:611014 http://identifiers.org/omim/611014 http://purl.obolibrary.org/obo/MONDO_0012599 hypertension, essential, susceptibility to, 8; HYT8|hypertension, essential, susceptibility to, 8|HYT8 predisposition MONDO:0012590 XFE progeroid syndrome biolink:Disease mondo UMLS:C1970416|GARD:0010628|DOID:0060590|MESH:C567043|OMIM:610965 A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13. DOID:0060590|UMLS:C1970416|MESH:C567043|http://identifiers.org/omim/610965 http://purl.obolibrary.org/obo/MONDO_0012590 XFE progeroid syndrome|XPF-ERCC1 progeroid syndrome|XFE progeroid syndrome; XFEPS|XFEPS gard_rare MONDO:0012593 brain-lung-thyroid syndrome biolink:Disease mondo MESH:C567034|GARD:0012163|SCTID:719098007|Orphanet:209905|OMIM:610978|ICD10:E03.1 Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). http://identifiers.org/omim/610978|SNOMEDCT:719098007|MESH:C567034|ORPHA:209905 http://purl.obolibrary.org/obo/MONDO_0012593 choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction; CAHTP|BLT syndrome|CAHTP|choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction|choreoathetosis-hypothyroidism-neonatal respiratory distress|brain-lung-thyroid syndrome gard_rare|ordo_disease MONDO:0012594 complement factor I deficiency biolink:Disease mondo MESH:C572568|DOID:0050419|UMLS:C3463916|OMIM:610984|Orphanet:200418|ICD10:D84.1 http://identifiers.org/omim/610984|UMLS:C3463916|MESH:C572568|DOID:0050419|ORPHA:200418 http://purl.obolibrary.org/obo/MONDO_0012594 immunodeficiency with factor I anomaly|complement factor I deficiency|CFID|complement Factor 1 deficiency|complement component 3 inactivator deficiency|complement factor I deficiency; CFID|C3 inactivator deficiency ordo_disease MONDO:0012591 osteogenesis imperfecta type 5 biolink:Disease mondo UMLS:C1970414|DOID:0110344|OMIM:610967|MESH:C567042|Orphanet:216828|ICD10:Q78.0|GARD:0008699 Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI). UMLS:C2931093|ORPHA:216828|MESH:C567042|UMLS:C1970414|MESH:C536046|DOID:0110344|http://identifiers.org/omim/610967 http://purl.obolibrary.org/obo/MONDO_0012591 osteogenesis imperfecta type V|osteogenesis imperfecta, type V; OI5|OI with calcification in interosseous membranes|osteogenesis imperfecta, type V|type V OI|IFITM5 osteogenesis imperfecta|OI5|OI type V|osteogenesis imperfecta caused by mutation in IFITM5|OI type 5|OI, type 5|osteogenesis imperfecta, type 5 ordo_clinical_subtype MONDO:0012592 osteogenesis imperfecta type 11 biolink:Disease mondo DOID:0110351|OMIM:610968|GARD:0012875|UMLS:C3151218|ICD10:Q78.0 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene. UMLS:C3151218|DOID:0110351|http://identifiers.org/omim/610968 http://purl.obolibrary.org/obo/MONDO_0012592 FKBP10 osteogenesis imperfecta|osteogenesis imperfecta type XI|osteogenesis imperfecta, type 11|OI type XI|OI, type 11|osteogenesis imperfecta, type XI; OI11|OI type 11|osteogenesis imperfecta, type XI|osteogenesis imperfecta caused by mutation in FKBP10|OI11 ENVO:01001205 lithification biolink:OntologyClass mondo A process during which sediments compact under pressure, expel connate fluids, and gradually become solid sedimentary rock. http://purl.obolibrary.org/obo/ENVO_01001205 ENVO:01001201 marine environmental zone biolink:OntologyClass mondo An environmental zone which is bounded by material parts of a marine environment. http://purl.obolibrary.org/obo/ENVO_01001201 GO:0002381 immunoglobulin production involved in immunoglobulin-mediated immune response biolink:OntologyClass mondo The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002381 immunoglobulin production during immune response|immunoglobulin production involved in immunoglobulin mediated immune response|immunoglobulin production involved in immune response|antibody secretion during immune response|immunoglobulin biosynthetic process involved in immune response|immunoglobulin secretion involved in immune response|antibody production during immune response ENVO:01001200 anthropised terrestrial environmental zone biolink:OntologyClass mondo A terrestrial zone which is bounded by constructed, manufactured, or other anthropogenic material entities. http://purl.obolibrary.org/obo/ENVO_01001200 HP:0011043 Abnormality of circulating adrenocorticotropin level biolink:PhenotypicFeature mondo UMLS:C4023574 An abnormal concentration of corticotropin in the blood. http://purl.obolibrary.org/obo/HP_0011043 Abnormality of circulating adrenocorticotropin level|Abnormality of circulating corticotropin level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating ACTH level HP:0011042 Abnormal blood potassium concentration biolink:PhenotypicFeature mondo UMLS:C4023575 An abnormal concentration of potassium. http://purl.obolibrary.org/obo/HP_0011042 Abnormal blood K concentration|Abnormality of potassium homeostasis CHEBI:77425 EC 1.1.1.188 (prostaglandin-F synthase) inhibitor biolink:ChemicalSubstance mondo An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that interferes with the action of prostaglandin-F synthase (EC 1.1.1.188). http://purl.obolibrary.org/obo/CHEBI_77425 PGF synthetase inhibitor|prostaglandin D2-ketoreductase inhibitors|prostaglandin 11-ketoreductase inhibitor|EC 1.1.1.188 inhibitor|reductase, 15-hydroxy-11-oxoprostaglandin inhibitor|PGD2 11-ketoreductase inhibitors|reductase, 15-hydroxy-11-oxoprostaglandin inhibitors|PGD2 11-ketoreductase inhibitor|prostaglandin 11-ketoreductase inhibitors|EC 1.1.1.188 inhibitors|PGF synthetase inhibitors|prostaglandin D2-ketoreductase inhibitor|prostaglandin-D2 11-reductase inhibitors|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitor|synthetase, prostaglandin F2alpha inhibitors|prostaglandin 11-keto reductase inhibitor|prostaglandin F synthase inhibitors|PGF2alpha synthetase inhibitors|prostaglandin F synthetase inhibitors|NADPH-dependent prostaglandin D2 11-keto reductase inhibitors|EC 1.1.1.188 (prostaglandin-F synthase) inhibitors|NADPH-dependent prostaglandin D2 11-keto reductase inhibitor|prostaglandin F synthetase inhibitor|PGF2alpha synthetase inhibitor|prostaglandin F synthase inhibitor|prostaglandin 11-keto reductase inhibitors|synthetase, prostaglandin F2alpha inhibitor|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitors|prostaglandin-D2 11-reductase inhibitor HP:0011032 Abnormality of fluid regulation biolink:PhenotypicFeature mondo SNOMEDCT_US:1860003|UMLS:C2364164|SNOMEDCT_US:190902006 An abnormality of the regulation of body fluids. http://purl.obolibrary.org/obo/HP_0011032 Fluid imbalance|Abnormality of fluid regulation ENVO:01001227 aquatic natural environment biolink:OntologyClass mondo A natural environment which is within a water body. http://purl.obolibrary.org/obo/ENVO_01001227 HP:0011035 Abnormal renal cortex morphology biolink:PhenotypicFeature mondo UMLS:C4023580 An abnormality of the cortex of the kidney. http://purl.obolibrary.org/obo/HP_0011035 Abnormality of renal cortex morphology ENVO:01001226 terrestrial natural environment biolink:OntologyClass mondo A natural environment which is located on a land mass. http://purl.obolibrary.org/obo/ENVO_01001226 GO:0002366 leukocyte activation involved in immune response biolink:OntologyClass mondo A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_0002366 immune cell activation during immune response|leucocyte activation during immune response|leukocyte activation during immune response GO:0002367 cytokine production involved in immune response biolink:OntologyClass mondo The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002367 cytokine biosynthetic process involved in immune response|cytokine production during immune response|cytokine secretion involved in immune response|cytokine secretion during immune response HP:0011030 Abnormal blood transition element cation concentration biolink:PhenotypicFeature mondo UMLS:C4023584 An abnormality of the homeostasis (concentration) of transition element cation. http://purl.obolibrary.org/obo/HP_0011030 Abnormality of transition element cation homeostasis HP:0011031 Abnormality of iron homeostasis biolink:PhenotypicFeature mondo UMLS:C4023583 An abnormality of the homeostasis (concentration) of iron cation. http://purl.obolibrary.org/obo/HP_0011031 ENVO:01001216 ultraviolet stellar radiation biolink:OntologyClass mondo A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 10 nm and 400 nm. http://purl.obolibrary.org/obo/ENVO_01001216 ultraviolet solar radiation HP:0011024 Abnormality of the gastrointestinal tract biolink:PhenotypicFeature mondo SNOMEDCT_US:25374005|SNOMEDCT_US:119292006|MSH:D004066|UMLS:C0012242|SNOMEDCT_US:53619000|UMLS:C0017178|UMLS:C4023588|MSH:D005767 An abnormality of the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the GI tract|Gastrointestinal disease|Digestive system disease|Abnormality of the gastrointestinal tract HP:0011025 Abnormal cardiovascular system physiology biolink:PhenotypicFeature mondo UMLS:C4023587 Abnormal functionality of the cardiovascular system. http://purl.obolibrary.org/obo/HP_0011025 Abnormality of cardiovascular system physiology GO:0002376 immune system process biolink:OntologyClass mondo Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. http://purl.obolibrary.org/obo/GO_0002376 ENVO:01001215 visible spectrum stellar radiation biolink:OntologyClass mondo A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 380 nm and 760 nm. http://purl.obolibrary.org/obo/ENVO_01001215 optical stellar radiation|visible spectrum solar radiation GO:0002377 immunoglobulin production biolink:OntologyClass mondo The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002377 antibody production|immunoglobulin biosynthetic process|immunoglobulin secretion HP:0011028 Abnormality of blood circulation biolink:PhenotypicFeature mondo UMLS:C4020760|UMLS:C4023585 An abnormality of blood circulation. http://purl.obolibrary.org/obo/HP_0011028 Blood circulation disorder HGNC:21390 RIPPLY2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21390 HGNC:21396 ABHD5 biolink:OntologyClass mondo http://identifiers.org/hgnc/21396 HP:0011029 Internal hemorrhage biolink:PhenotypicFeature mondo UMLS:C1390214 The presence of hemorrhage within the body. http://purl.obolibrary.org/obo/HP_0011029 Internal bleeding|Internal haemorrhage ENVO:01001211 stellar radiation biolink:OntologyClass mondo An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a star. http://purl.obolibrary.org/obo/ENVO_01001211 solar radiation MONDO:0000432 lymphoplasmacytic lymphoma biolink:Disease mondo NCIT:C3212|ICD9:273.3|ONCOTREE:LPL|ICDO:9761/3|UMLS:C0334633|ICDO:9671/3|ICD10:C88.0|DOID:0050747 A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein. DOID:0050747|NCIT:C3212|UMLS:C0334633 http://purl.obolibrary.org/obo/MONDO_0000432 lymphoma, lymphoplasmacytic, malignant|lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)|lymphoma, plasmacytic|lymphoplasmacytoid lymphoma|Immunocytoma, lymphoplasmacytic type|lymphoplasmacytic lymphoma MONDO:0000431 obsolete mantle cell lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000431 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma biolink:Disease mondo DOID:0050743|MESH:D016411|ICDO:9702/3|ICD10:C84.4|GARD:0007368|SCTID:109977009|COHD:434881|DOID:0050749|NCIT:C3468 This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma. DOID:0050743|DOID:0050749|MESH:D016411|SNOMEDCT:109977009|NCIT:C3468 http://purl.obolibrary.org/obo/MONDO_0000430 NK-T cell lymphoma|mature T-cell and NK-cell non-Hodgkin's lymphoma|PTCL|mature T-cell and NK-cell non-Hodgkin lymphoma|mature T-cell lymphoma|peripheral T-cell lymphoma|mature T-cell non-Hodgkin's lymphoma|mature T-and NK-cell lymphoma|mature T-cell and natural killer cell lymphoma|mature T-cell and NK-cell lymphoma gard_rare MONDO:0000436 obsolete T-cell large granular lymphocyte leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000436 MONDO:0000435 obsolete splenic marginal zone lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000435 MONDO:0000434 obsolete peripheral T-cell lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000434 MONDO:0024404 obsolete meningitis caused by anaerobic bacteria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024404 MONDO:0000433 obsolete marginal zone B-cell lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000433 MONDO:0012418 autosomal recessive nonsyndromic deafness 62 biolink:Disease mondo UMLS:C1857820|ICD10:H90.3|OMIM:610143|DOID:0110514|MESH:C565719 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23. UMLS:C1857820|http://identifiers.org/omim/610143|MESH:C565719|DOID:0110514 http://purl.obolibrary.org/obo/MONDO_0012418 DFNB62|autosomal recessive nonsyndromic deafness type 62|deafness, autosomal recessive 62|deafness, autosomal recessive 62; DFNB62|autosomal recessive deafness 62 MONDO:0012419 age related macular degeneration 7 biolink:Disease mondo OMIM:610149|UMLS:C1857813|DOID:0110019|MESH:C565718 Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene. UMLS:C1857813|http://identifiers.org/omim/610149|DOID:0110019|MESH:C565718 http://purl.obolibrary.org/obo/MONDO_0012419 ARMD7|macular Degeneration, age-related, type 7|macular Degeneration, age-related, neovascular type, susceptibility to|age-related macular degeneration caused by mutation in HTRA1|macular degeneration, age-related, 7; ARMD7|macular Degeneration, age-related, wet type, susceptibility to|age related macular degeneration type 7|HTRA1 age-related macular degeneration|macular degeneration, age-related, 7 MONDO:0012416 Devriendt syndrome biolink:Disease mondo MESH:C535947|UMLS:C1857830|OMIM:610136|GARD:0010052 UMLS:C1857830|http://identifiers.org/omim/610136|MESH:C535947 http://purl.obolibrary.org/obo/MONDO_0012416 Devriendt syndrome|severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism|severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism gard_rare MONDO:0012417 heart-hand syndrome, Slovenian type biolink:Disease mondo ICD10:Q87.2|UMLS:C1857829|MESH:C535852|OMIM:610140|Orphanet:168796|GARD:0009846|SCTID:721014007 Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. ORPHA:168796|UMLS:C1857829|http://identifiers.org/omim/610140|SNOMEDCT:721014007|MESH:C535852 http://purl.obolibrary.org/obo/MONDO_0012417 atriodigital dysplasia, Slovenian type|Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome|heart-hand syndrome, Slovenian type gard_rare|ordo_malformation_syndrome HGNC:21484 MCM9 biolink:OntologyClass mondo http://identifiers.org/hgnc/21484 MONDO:0012421 autosomal recessive nonsyndromic deafness 44 biolink:Disease mondo ICD10:H90.3|UMLS:C1857809|OMIM:610154|DOID:0110501|MESH:C565716 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene. UMLS:C1857809|http://identifiers.org/omim/610154|MESH:C565716|DOID:0110501 http://purl.obolibrary.org/obo/MONDO_0012421 autosomal recessive deafness 44|ADCY1 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in ADCY1|deafness, autosomal recessive type 44|DFNB44|deafness, autosomal recessive 44; DFNB44|deafness, autosomal recessive 44|autosomal recessive nonsyndromic deafness type 44 MONDO:0012422 type 1 diabetes mellitus 19 biolink:Disease mondo OMIM:610155|UMLS:C1857808|ICD10:E10|DOID:0110756|MESH:C565715 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3. UMLS:C1857808|http://identifiers.org/omim/610155|MESH:C565715|DOID:0110756 http://purl.obolibrary.org/obo/MONDO_0012422 IDDM19|diabetes mellitus, insulin-dependent, 19; IDDM19|insulin-dependent diabetes mellitus 19|diabetes mellitus, insulin-dependent, 19 MONDO:0012420 autosomal recessive nonsyndromic deafness 49 biolink:Disease mondo OMIM:610153|DOID:0110506|UMLS:C1857811|ICD10:H90.3|NCIT:C129024|MESH:C565717 An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness. NCIT:C129024|UMLS:C1857811|http://identifiers.org/omim/610153|MESH:C565717|DOID:0110506 http://purl.obolibrary.org/obo/MONDO_0012420 autosomal recessive deafness 49|DFNB49|deafness, autosomal recessive 49; DFNB49|autosomal recessive nonsyndromic deafness type 49|deafness, autosomal recessive type 49|deafness, autosomal recessive 49|autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2|MARVELD2 autosomal recessive nonsyndromic deafness MONDO:0012425 FECD2 biolink:Disease mondo UMLS:C1857800|OMIM:610158 UMLS:C1857800|http://identifiers.org/omim/610158 http://purl.obolibrary.org/obo/MONDO_0012425 corneal dystrophy, Fuchs endothelial, 2|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 2; FECD2|FECD2|Fcd1 locus MONDO:0012426 immunodeficiency 25 biolink:Disease mondo MESH:C565712|DOID:0060007|OMIM:610163|UMLS:C1857798 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene. UMLS:C1857798|http://identifiers.org/omim/610163|MESH:C565712|DOID:0060007 http://purl.obolibrary.org/obo/MONDO_0012426 IMD25|severe combined immunodeficiency (disease) caused by mutation in CD247|immunodeficiency type 25|CD3zeta deficiency|immunodeficiency 25; IMD25|immunodeficiency due to defect in CD3-zeta|immunodeficiency 25|CD247 severe combined immunodeficiency (disease) MONDO:0012423 MORM syndrome biolink:Disease mondo OMIM:610156|MESH:C536984|Orphanet:75858|GARD:0010121|UMLS:C1857802|SCTID:715628009 MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. ORPHA:75858|UMLS:C1857802|http://identifiers.org/omim/610156|MESH:C536984|SNOMEDCT:715628009 http://purl.obolibrary.org/obo/MONDO_0012423 intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome|MORM syndrome|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome|mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome; MORMS|mental retardation, truncal obesity, retinal dystrophy and micropenis|MORMS|intellectual disability, truncal obesity, retinal dystrophy and micropenis|intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome; MORMS|mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome gard_rare|ordo_disease MONDO:0012424 obsolete heat-shock RNA 1 biolink:Disease mondo OMIM:610157 http://identifiers.org/omim/610157 http://purl.obolibrary.org/obo/MONDO_0012424 Hsr1|heat-shock RNA type 1|heat-shock RNA 1 MONDO:0000429 autosomal genetic disease biolink:Disease mondo DOID:0050739|ICD9:758.5|UMLS:C0265384|SCTID:1899006 A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. SNOMEDCT:1899006|UMLS:C0265384|DOID:0050739 http://purl.obolibrary.org/obo/MONDO_0000429 autosomal inherited disorder|autosomal hereditary disorder|autosomal inherited disease MONDO:0000428 Y-linked disease biolink:Disease mondo DOID:0050738|MESH:D050174|UMLS:C1563751 Y-linked form of disease. UMLS:C1563751|DOID:0050738|MESH:D050174 http://purl.obolibrary.org/obo/MONDO_0000428 genetic disease, Y-linked|disease, Y-linked genetic|disease, Y-linked|Y-linked disease or disorder|genetic diseases, Y linked|Y-linked genetic disease|diseases, Y-linked genetic|Y-linked genetic diseases|disease or disorder, Y-linked|Y linked genetic diseases|genetic diseases, Y-chromosome linked|genetic diseases, Y chromosome linked MONDO:0000427 obsolete autosomal recessive disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000427 MONDO:0000426 autosomal dominant disease biolink:Disease mondo DOID:0050736|UMLS:C0265385|ICD9:758.5|SCTID:11164009 Autosomal dominant form of disease. UMLS:C0265385|SNOMEDCT:11164009|DOID:0050736 http://purl.obolibrary.org/obo/MONDO_0000426 disease or disorder, autosomal dominant|autosomal dominant inherited disorder|autosomal dominant disease or disorder|autosomal dominant hereditary disorder|disease, autosomal dominant HGNC:6595 LHX3 biolink:OntologyClass mondo http://identifiers.org/hgnc/6595 HGNC:6597 LIFR biolink:OntologyClass mondo http://identifiers.org/hgnc/6597 HGNC:21497 ACAD9 biolink:OntologyClass mondo http://identifiers.org/hgnc/21497 MONDO:0000443 obsolete adenylosuccinase lyase deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000443 MONDO:0000442 obsolete paramyloidosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000442 MONDO:0000441 obsolete X-linked myopathy with excessive autophagy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000441 MONDO:0000440 metabolic acidosis biolink:Disease mondo SCTID:59455009|DOID:0050758 DOID:0050758|SNOMEDCT:59455009 http://purl.obolibrary.org/obo/MONDO_0000440 HGNC:21498 ATG16L1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21498 MONDO:0000447 autosomal dominant polycystic liver disease biolink:Disease mondo GARD:0009457|ICD9:751.62|NCIT:C82833|OMIMPS:174050|DOID:0050770|UMLS:C0158683|HP:0006557|SCTID:72925005 An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver. NCIT:C82833|MESH:C536330|UMLS:C0158683|DOID:0050770|SNOMEDCT:72925005 http://purl.obolibrary.org/obo/MONDO_0000447 ADPLD|congenital hepatic cyst|fibrocystic liver disease|AD polycystic liver disease|congenital cystic liver disease|PCLD|polycystic liver disease MONDO:0000446 midface dysplasia biolink:Disease mondo DOID:0050767 DOID:0050767 http://purl.obolibrary.org/obo/MONDO_0000446 MONDO:0000445 obsolete neuroacanthocytosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000445 MONDO:0000444 obsolete ARC syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000444 pericyte cell syndromic disease MONDO:0012407 pyridoxal phosphate-responsive seizures biolink:Disease mondo SCTID:724576005|Orphanet:79096|OMIM:610090|UMLS:C1864723|MESH:C566449|GARD:0010730|ICD10:G40.8 Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. UMLS:C1864723|SNOMEDCT:724576005|MESH:C566449|http://identifiers.org/omim/610090|ORPHA:79096 http://purl.obolibrary.org/obo/MONDO_0012407 pyridoxamine 5-prime-phosphate oxidase deficiency; PNPOD|pyridoxine 5' phosphate oxidase deficiency|pyridoxal 5'-phosphate-dependent epilepsy|pyridoxamine 5'-phosphate oxidase deficiency|epileptic encephalopathy, neonatal, Pnpo-related|seizures, pyridoxine-resistant, PLP-sensitive|PNPOD|pyridoxamine 5'-oxidase deficiency|PNPO deficiency|pyridoxine-5'-phosphate oxidase deficiency|pyridoxal phosphate-dependent seizures|Pnpo deficiency|PNPO-related neonatal epileptic encephalopathy|pyridoxamine 5-prime-phosphate oxidase deficiency ordo_disease MONDO:0012408 microphthalmia, isolated, with coloboma 3 biolink:Disease mondo OMIM:610092|UMLS:C1864721 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene. UMLS:C1864721|http://identifiers.org/omim/610092 http://purl.obolibrary.org/obo/MONDO_0012408 MCOPCB3|microphthalmia, colobomatous, isolated 3|microphthalmia, isolated, with coloboma type 3|microphthalmia, isolated, with coloboma 3; MCOPCB3|microphthalmia, isolated, with coloboma 3|VSX2 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma caused by mutation in VSX2|microphthalmia, cataracts, and iris abnormalities MONDO:0012405 polyposis syndrome, hereditary mixed, 2 biolink:Disease mondo UMLS:C1864730|OMIM:610069|MESH:C566451 Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene. UMLS:C1864730|MESH:C566451|http://identifiers.org/omim/610069 http://purl.obolibrary.org/obo/MONDO_0012405 polyposis syndrome, hereditary mixed, type 2|polyposis syndrome, hereditary mixed, 2; HMPS2|BMPR1A hereditary mixed polyposis syndrome|HMPS2|polyposis syndrome, hereditary mixed, 2|hereditary mixed polyposis syndrome caused by mutation in BMPR1A MONDO:0012406 HRPT3 biolink:Disease mondo UMLS:C1864729|OMIM:610071|MESH:C566450 UMLS:C1864729|MESH:C566450|http://identifiers.org/omim/610071 http://purl.obolibrary.org/obo/MONDO_0012406 HRPT3|hyperparathyroidism, familial isolated|hyperparathyroidism 3|hyperparathyroidism 3; HRPT3 HGNC:21493 DNAAF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/21493 MONDO:0012409 isolated microphthalmia 2 biolink:Disease mondo DOID:0060839|OMIM:610093|ICD10:Q11.0|UMLS:C1864720|MESH:C566446 Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene. DOID:0060839|UMLS:C1864720|MESH:C566446|http://identifiers.org/omim/610093 http://purl.obolibrary.org/obo/MONDO_0012409 MCOP2|VSX2 isolated microphthalmia|microphthalmia, isolated 2|anophthalmia, clinical, isolated|isolated microphthalmia caused by mutation in VSX2|microphthalmia, isolated 2; MCOP2|microphthalmia, isolated type 2|isolated microphthalmia type 2 MONDO:0012410 Finnish upper limb-onset distal myopathy biolink:Disease mondo Orphanet:399086|OMIM:610099|UMLS:C1864706|SCTID:763718009|ICD10:G71.0 Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. ORPHA:399086|http://identifiers.org/omim/610099|UMLS:C1864706|SNOMEDCT:763718009 http://purl.obolibrary.org/obo/MONDO_0012410 distal myopathy type 3|myopathy, distal, 3|MPD3|myopathy, distal, 3; MPD3 ordo_disease MONDO:0012411 giant axonal neuropathy 2 biolink:Disease mondo ICD10:G60.0|DOID:0090069|GARD:0012447|UMLS:CN226146|Orphanet:401964|OMIM:610100|UMLS:C1864695 Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene. UMLS:CN226146|ORPHA:401964|http://identifiers.org/omim/610100|DOID:0090069|UMLS:C1864695 http://purl.obolibrary.org/obo/MONDO_0012411 GAN2|HMSN2 with giant axons|giant axonal neuropathy 2, autosomal dominant; GAN2|autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons|DCAF8 giant axonal neuropathy|autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons|CMT2 with giant axons|giant axonal neuropathy caused by mutation in DCAF8|giant axonal neuropathy 2, autosomal dominant|giant axonal neuropathy type 2 ordo_disease ENVO:01001192 sediment surface biolink:OntologyClass mondo The surface layer of a mass of sediment. http://purl.obolibrary.org/obo/ENVO_01001192 surface sediment|surface of a sedimentary mass ENVO:01001191 water surface biolink:OntologyClass mondo The surface layer of a volume of water. http://purl.obolibrary.org/obo/ENVO_01001191 water body surface|surface of a body of water MONDO:0012414 neuronal ceroid lipofuscinosis 10 biolink:Disease mondo SCTID:720831008|GARD:0001218|MESH:C566438|Orphanet:228337|DOID:0110725|ICD10:E75.4|OMIM:610127 Neuronal ceroid lipofuscinosis 10(CLN10-NCL) is arare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. ORPHA:228337|MESH:C566438|http://identifiers.org/omim/610127|SNOMEDCT:720831008|DOID:0110725 http://purl.obolibrary.org/obo/MONDO_0012414 CLN10 disease, congenital (subtype)|neuronal ceroid lipofuscinosis due to cathepsin D deficiency|neuronal ceroid lipofuscinosis cathepsin D-deficient|CLN10|CLN10 disease, adult (subtype)|CLN10 disease, late infantile (subtype)|ceroid lipofuscinosis neuronal Cathepsin D-deficient|neuronal ceroid lipofuscinosis, congenital|neuronal ceroid lipofuscinosis type 10|CTSD neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, Cathepsin D-deficient|CLN10 disease, juvenile (subtype)|CLN10 disease|ceroid lipofuscinosis, neuronal, 10; CLN10|Cathepsin D deficiency|ceroid lipofuscinosis, neuronal, type 10|neuronal ceroid lipofuscinosis due to Cathepsin D deficiency|ceroid lipofuscinosis, neuronal, 10|neuronal ceroid lipofuscinosis caused by mutation in CTSD ordo_etiological_subtype|gard_rare MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 biolink:Disease mondo MESH:C566437|UMLS:C1864668|OMIM:610131 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene. UMLS:C1864668|MESH:C566437|http://identifiers.org/omim/610131 http://purl.obolibrary.org/obo/MONDO_0012415 progressive external ophthalmoplegia, autosomal dominant 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions|PEOA4|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; PEOA4 MONDO:0012412 complement component 7 deficiency biolink:Disease mondo OMIM:610102|UMLS:C1864694|DOID:0060300|ICD10:D84.1|MESH:C566443 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene. MESH:C566443|http://identifiers.org/omim/610102|DOID:0060300|UMLS:C1864694 http://purl.obolibrary.org/obo/MONDO_0012412 C7 classic complement early component deficiency|complement component 7 deficiency|complement component 7 deficiency; C7D|C7 deficiency|C7D|classic complement early component deficiency caused by mutation in C7 MONDO:0012413 syndromic microphthalmia type 5 biolink:Disease mondo OMIM:610125|Orphanet:178364|GARD:0003692|SCTID:718761007|UMLS:C1864690|MESH:C566441|UMLS:C4305151|ICD10:Q11.2 Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. ORPHA:178364|UMLS:C4305151|SNOMEDCT:718761007|MESH:C566441|http://identifiers.org/omim/610125|UMLS:C1864690 http://purl.obolibrary.org/obo/MONDO_0012413 microphthalmia, syndromic 5|syndromic microphthalmia/anophthalmia due to OTX2 mutation|MCOPS5|OTX2-related eye disorders|microphthalmia, syndromic type 5|microphthalmia syndromic 5|syndromic microphthalmia caused by mutation in OTX2|retinal dystrophy, early-onset, with or without pituitary dysfunction|OTX2 syndromic microphthalmia|microphthalmia, syndromic 5; MCOPS5 ordo_malformation_syndrome MONDO:0000439 obsolete batten disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000439 MONDO:0000438 obsolete ataxia with oculomotor apraxia type 2 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000438 MONDO:0000437 cerebellar ataxia biolink:Disease mondo SCTID:85102008|NCIT:C82341|COHD:435242|MESH:D002524|GARD:0012060|UMLS:C0087012|DOID:0050753|Orphanet:102002|ICD9:334.3 A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. NCIT:C82341|SNOMEDCT:85102008|MESH:D002524|DOID:0050753|ORPHA:102002|UMLS:C0087012 http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar dysmetria|spinocerebellar ataxia|ataxia, cerebellar|cerebellar Dysmetrias|ataxias, cerebellar|ataxia|cerebellar Ataxias|rare ataxia|ataxia syndrome|spinocerebellar Degeneration ordo_group_of_disorders ENVO:01001199 terrestrial environmental zone biolink:OntologyClass mondo An environmental zone which is bounded by material parts of a land mass or the atmosphere or space adjacent to it. http://purl.obolibrary.org/obo/ENVO_01001199 MONDO:0000410 funisitis biolink:Disease mondo NCIT:C97077|ICD9:658.80|SCTID:396343006|DOID:0050698|UMLS:C1275592 An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid. DOID:0050698|SNOMEDCT:396343006|NCIT:C97077|UMLS:C1275592 http://purl.obolibrary.org/obo/MONDO_0000410 MONDO:0000414 childhood electroclinical syndrome biolink:Disease mondo DOID:0050704 A electroclinical syndrome that occurs during childhood. DOID:0050704 http://purl.obolibrary.org/obo/MONDO_0000414 pediatric electroclinical syndrome|pediatric electroclinical syndrome|electroclinical syndrome of childhood UBERON:0008281 tooth bud biolink:AnatomicalEntity mondo A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. http://purl.obolibrary.org/obo/UBERON_0008281 dental germ|dental bud|tooth germ MONDO:0000413 infancy electroclinical syndrome biolink:Disease mondo DOID:0050703 An electroclinical syndrome with onset in infancy occurring between birth and one year of age. DOID:0050703 http://purl.obolibrary.org/obo/MONDO_0000413 MONDO:0000412 neonatal period electroclinical syndrome biolink:Disease mondo DOID:0050702 An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. DOID:0050702 http://purl.obolibrary.org/obo/MONDO_0000412 MONDO:0000411 electroclinical syndrome biolink:Disease mondo DOID:0050701 An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. DOID:0050701 http://purl.obolibrary.org/obo/MONDO_0000411 electro-clinical syndrome NCBITaxon:544448 Tenericutes organism taxon mondo PMID:29458499|PMID:26654112|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_544448 Mollicutota|Mollicutaeota HP:0001824 Weight loss biolink:PhenotypicFeature mondo SNOMEDCT_US:161832001|UMLS:C1262477|SNOMEDCT_US:89362005|SNOMEDCT_US:262285001|MSH:D015431 Reduction inexisting body weight. http://purl.obolibrary.org/obo/HP_0001824 MONDO:0012400 cortical dysplasia-focal epilepsy syndrome biolink:Disease mondo ICD10:Q04.8|OMIM:610042|Orphanet:163681|UMLS:C1864887|DOID:0090130|NCIT:C133743 An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder. UMLS:C1864887|NCIT:C133743|http://identifiers.org/omim/610042|DOID:0090130|ORPHA:163681 http://purl.obolibrary.org/obo/MONDO_0012400 CDFES|Pitt-Hopkins-like syndrome 1|CDFE syndrome|CDFE syndrome|cortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome 1; PTHSL1|PTHSL1|cortical dysplasia-focal epilepsy syndrome; CDFES ordo_disease MONDO:0012403 systemic lupus erythematosus, susceptibility to, 7 biolink:Disease mondo OMIM:610065 http://identifiers.org/omim/610065 http://purl.obolibrary.org/obo/MONDO_0012403 systemic lupus erythematosus, susceptibility to, 7|systemic lupus erythematosus, susceptibility to, 7; SLEB7|SLEB7 predisposition MONDO:0012404 systemic lupus erythematosus, susceptibility to, 8 biolink:Disease mondo OMIM:610066 http://identifiers.org/omim/610066 http://purl.obolibrary.org/obo/MONDO_0012404 systemic lupus erythematosus, susceptibility to, 8; SLEB8|systemic lupus erythematosus, susceptibility to, 8|SLEB8 predisposition MONDO:0012401 congenital stromal corneal dystrophy biolink:Disease mondo Orphanet:101068|MESH:C566452|SCTID:702359002|DOID:0060445|ICD10:H18.5|UMLS:C1864738|OMIM:610048|ICD9:371.56 Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. UMLS:C1864738|MESH:C566452|http://identifiers.org/omim/610048|DOID:0060445|ORPHA:101068|SNOMEDCT:702359002 http://purl.obolibrary.org/obo/MONDO_0012401 corneal dystrophy, congenital stromal; CSCD|CSCD|congenital stromal corneal dystrophy|congenital hereditary stromal dystrophy|Witschel dystrophy|corneal dystrophy, congenital stromal ordo_disease MONDO:0012402 opioid dependence, susceptibility to, 1 biolink:Disease mondo OMIM:610064 http://identifiers.org/omim/610064 http://purl.obolibrary.org/obo/MONDO_0012402 opioid dependence, susceptibility to, 1|Ods1|opioid dependence, susceptibility to, type 1 predisposition MONDO:0000407 malignant pleural solitary fibrous tumor biolink:Disease mondo DOID:0050695 A malignant form of pleural solitary fibrous tumor. DOID:0050695 http://purl.obolibrary.org/obo/MONDO_0000407 pleural solitary fibrous tumor, malignant MONDO:0000406 obsolete Brown-Vialetto-van Laere syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000406 MONDO:0000405 anal canal cancer biolink:Disease mondo ICD9:154.2|UMLS:C0153445|SCTID:363352004|DOID:0050688 A malignant neoplasm involving the anal canal UMLS:C0153445|SNOMEDCT:363352004|DOID:0050688 http://purl.obolibrary.org/obo/MONDO_0000405 cancer of anal canal|anal canal cancer|malignant neoplasm of anal canal|malignant anal canal neoplasm MONDO:0000404 obsolete cell type cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000404 MONDO:0000409 chorioamnionitis biolink:Disease mondo MESH:D002821|SCTID:11612004|NCIT:C26720|DOID:0050697 A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion. NCIT:C26720|SNOMEDCT:11612004|MESH:D002821|DOID:0050697 http://purl.obolibrary.org/obo/MONDO_0000409 inflammation of fetal membrane|fetal membrane inflammation|intra-amniotic infection MONDO:0000408 fetal alcohol spectrum disorder biolink:Disease mondo UMLS:C2985290|NCIT:C92780|SCTID:609437000|UMLS:CN200663|DOID:0050696 A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. SNOMEDCT:609437000|UMLS:C2985290|UMLS:CN200663|DOID:0050696|NCIT:C92780 http://purl.obolibrary.org/obo/MONDO_0000408 MONDO:0000421 inborn serine deficiency biolink:Disease mondo DOID:0050721 An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process. DOID:0050721 http://purl.obolibrary.org/obo/MONDO_0000421 rare inborn error of L-serine biosynthetic process|inborn error of L-serine biosynthetic process|rare inborn error of L-serine biosynthetic process|inborn L-serine biosynthetic process disorder MONDO:0000420 obsolete cerebral folate receptor alpha deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000420 HGNC:21474 INPP5E biolink:OntologyClass mondo http://identifiers.org/hgnc/21474 MONDO:0000425 X-linked disease biolink:Disease mondo UMLS:C2828000|DOID:0050735|UMLS:C1138434|MESH:D040181|ICD9:799.89|NCIT:C85865|SCTID:128430005 X-linked form of disease. SNOMEDCT:128430005|UMLS:C2828000|DOID:0050735|MESH:D040181|UMLS:C1138434|NCIT:C85865 http://purl.obolibrary.org/obo/MONDO_0000425 X-linked hereditary disease|X-linked disease or disorder|disease, X-linked|X-linked hereditary disorder|X linked genetic diseases|X-linked inherited disease|disease or disorder, X-linked|genetic diseases, X-chromosome linked|genetic disease, X-linked|genetic diseases, X chromosome linked|disease, X-linked genetic|genetic diseases, X linked|X-linked genetic disease|diseases, X-linked genetic|X-linked genetic diseases|X-linked inherited disorder NCBITaxon:63417 Trichophyton verrucosum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_63417 Ectotrichophyton verrucosum|Favotrichophyton verrucosum MONDO:0000424 inborn vitamin B12 deficiency (disease) biolink:Disease mondo EFO:0000734|DOID:0050731 Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. DOID:0050731 http://purl.obolibrary.org/obo/MONDO_0000424 hypocobalaminemia|rare inborn error of cobalamin metabolic process|inborn cobalamin metabolic process disorder|inborn error of cobalamin metabolic process|rare inborn error of cobalamin metabolic process|cobalamin deficiency HGNC:21478 RFX6 biolink:OntologyClass mondo http://identifiers.org/hgnc/21478 NCBITaxon:63419 Trichophyton concentricum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_63419 Oospora concentrica|Aspergillus concentricum|Mycoderma concentricum|Lepidophyton concentricum|Achorion concentricum|Endodermophyton concentricum MONDO:0000423 obsolete coenzyme Q10 deficiency disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000423 MONDO:0000422 obsolete inborn glycogen metabolism disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000422 GO:0110165 cellular anatomical entity biolink:OntologyClass mondo A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. http://purl.obolibrary.org/obo/GO_0110165 MONDO:0000418 obsolete Ohtahara syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000418 MONDO:0000417 early onset absence epilepsy biolink:Disease mondo DOID:0050708 A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. DOID:0050708 http://purl.obolibrary.org/obo/MONDO_0000417 MONDO:0000416 obsolete variable age at onset electroclinical syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000416 MONDO:0000415 adolescence-adult electroclinical syndrome biolink:Disease mondo DOID:0050705 An electroclinical syndrome with onset in adolescence and adulthood. DOID:0050705 http://purl.obolibrary.org/obo/MONDO_0000415 MONDO:0000419 obsolete 3-Methylcrotonyl-CoA carboxylase deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000419 MONDO:0000476 generalized dystonia biolink:Disease mondo SCTID:425492002|MESH:D004422|ICD9:333.8|ICD9:333.6|DOID:0050835|ICD10:G24.2|ICD10:G24.1|ICD9:333.89 DOID:0050835|MESH:D004422|SNOMEDCT:425492002 http://purl.obolibrary.org/obo/MONDO_0000476 torsion dystonia|symptomatic torsion dystonia|torsion disease of childhood|dystonias, Idiopathic torsion|torsion dystonia, Idiopathic|spasm, Progressive torsion|Progressive torsion spasm|dystonia deformans progressiva|Idiopathic torsion dystonias|dystonias, torsion|Idiopathic torsion dystonia|idiopathic torsion dystonia|childhood torsion disease|dystonia 12|Oppenheim Ziehen disease|dystonia deformans progressiva|dystonia, Idiopathic torsion|torsion spasm, Progressive|torsion disease, childhood|dystonia deformans musculorum|Oppenheim-Ziehen disease|idiopathic non-familial dystonia|idiopathic familial dystonia|dystonia musculorum deformans|familial dystonia|fragments of torsion dystonia MONDO:0000475 obsolete pyrimidine metabolic disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000475 MONDO:0000474 pericardium disease biolink:Disease mondo DOID:0050829|SCTID:55855009|ICD9:423.9|UMLS:C0265122|ICD9:423.8 A disease involving the pericardium. DOID:0050829|SNOMEDCT:55855009|UMLS:C0265122 http://purl.obolibrary.org/obo/MONDO_0000474 disease of pericardium|pericardium disease or disorder|disorder of pericardium|disorder of pericardium|pericardium disease|disease or disorder of pericardium MONDO:0000473 arterial disorder biolink:Disease mondo UMLS:C0852949|ICD9:447.9|ICD9:447.8|DOID:0050828|NCIT:C35317|SCTID:359557001 An impairment of the structure or function of the blood vessels which carry blood away from the heart. UMLS:C0852949|NCIT:C35317|SNOMEDCT:359557001|DOID:0050828 http://purl.obolibrary.org/obo/MONDO_0000473 disease of artery|disorder of artery|disease or disorder of artery|artery disease|arterial disease|arteriopathy|artery disease or disorder|disorder of artery|arterial disorder MONDO:0000479 segmental dystonia biolink:Disease mondo UMLS:C1997740|DOID:0050838|SCTID:427945008|ICD9:333.89 A dystonia that affects two or more adjacent parts of the body. SNOMEDCT:427945008|DOID:0050838|UMLS:C1997740 http://purl.obolibrary.org/obo/MONDO_0000479 MONDO:0000478 multifocal dystonia biolink:Disease mondo DOID:0050837 A dystonia that involves two or more unrelated body parts. DOID:0050837 http://purl.obolibrary.org/obo/MONDO_0000478 MONDO:0000477 focal dystonia biolink:Disease mondo UMLS:C0743332|DOID:0050836|SCTID:445006008 A dystonia that is localized to a specific part of the body. DOID:0050836|UMLS:C0743332|SNOMEDCT:445006008 http://purl.obolibrary.org/obo/MONDO_0000477 UBERON:0035881 ethmoidomaxillary suture biolink:AnatomicalEntity mondo A suture between the orbital surface of the body of the maxilla with the orbital plate of the ethmoid bone. http://purl.obolibrary.org/obo/UBERON_0035881 sutura ethmoidomaxillaris|ethmoidomaxillary suture of skull HP:0001888 Lymphopenia biolink:PhenotypicFeature mondo UMLS:C0024312|SNOMEDCT_US:48813009|MSH:D008231 A reduced number of lymphocytes in the blood. http://purl.obolibrary.org/obo/HP_0001888 Lymphocytopenia|Absolute lymphocyte count decrease|Decreased blood lymphocyte number|Low lymphocyte number HP:0001889 Megaloblastic anemia biolink:PhenotypicFeature mondo MSH:D000749|SNOMEDCT_US:53165003|UMLS:C0002888 Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). http://purl.obolibrary.org/obo/HP_0001889 Megaloblastic anaemia MONDO:0000472 obsolete rheumatic heart disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000472 MONDO:0000471 tricuspid valve disease biolink:Disease mondo NCIT:C78649|ICD9:397.0|DOID:0050826|UMLS:C0264776|ICD10:I07|UMLS:C0264882|ICD10:I07.9|SCTID:20721001 A disease involving the tricuspid valve. UMLS:C0264882|SNOMEDCT:20721001|NCIT:C78649|DOID:0050826|UMLS:C0264776 http://purl.obolibrary.org/obo/MONDO_0000471 tricuspid valve disorder|disease of tricuspid valve|disorder of tricuspid valve|rheumatic disease of tricuspid valve|disorder of tricuspid valve|tricuspid valve disease|RH. tricuspid valve disease|disease or disorder of tricuspid valve|rheumatic tricuspid valve disease|tricuspid disease|tricuspid valve disease or disorder UBERON:0035884 maxillary-premaxillary suture biolink:AnatomicalEntity mondo A suture between the maxilla and premaxilla. http://purl.obolibrary.org/obo/UBERON_0035884 premaxillary suture|incisive suture|maxillary-premaxillary incisive suture MONDO:0000470 endocardium disease biolink:Disease mondo UMLS:C0854140|DOID:0050825|SCTID:123596001 A disease involving the endocardium. SNOMEDCT:123596001|UMLS:C0854140|DOID:0050825 http://purl.obolibrary.org/obo/MONDO_0000470 endocardial disease|disease or disorder of endocardium|disease of endocardium|endocardiopathy|endocardium disease or disorder|disorder of endocardium|disorder of endocardium|endocardium disease MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency biolink:Disease mondo OMIM:610293|UMLS:C4510605|GARD:0009965|ICD10:E88.8|SCTID:724344004|Orphanet:83639|UMLS:C1853205 The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. ORPHA:83639|UMLS:C1853205|SNOMEDCT:724344004|UMLS:C4510605|http://identifiers.org/omim/610293 http://purl.obolibrary.org/obo/MONDO_0012465 glycosylphosphatidylinositol deficiency|PIGM-CDG|GPID|GPI deficiency|glycosylphosphatidylinositol deficiency; GPID|congenital disorder of glycosylation due to PIGM deficiency|glycosylphosphatidylinositol biosynthesis defect 1 ordo_disease|gard_rare HP:0001882 Leukopenia biolink:PhenotypicFeature mondo MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530 An abnormal decreased number of leukocytes in the blood. http://purl.obolibrary.org/obo/HP_0001882 Low white blood cell count|Decreased blood leukocyte number MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to biolink:Disease mondo OMIM:610297|MESH:C565204 Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene. MESH:C565204|http://identifiers.org/omim/610297 http://purl.obolibrary.org/obo/MONDO_0012466 Parkinson disease 13, autosomal dominant, susceptibility to; PARK13|young-onset Parkinson disease caused by mutation in HTRA2|Parkinson disease 13, autosomal dominant, susceptibility to|susceptibility to autosomal dominant Parkinson disease 13|PARK13|HTRA2 young-onset Parkinson disease predisposition HP:0001883 Talipes biolink:PhenotypicFeature mondo SNOMEDCT_US:398309008|MSH:D000070558|UMLS:C1301937|UMLS:C3552713 A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. http://purl.obolibrary.org/obo/HP_0001883 Talipes foot deformities MONDO:0012463 retinitis pigmentosa 35 biolink:Disease mondo DOID:0110357|OMIM:610282|MESH:C565206|GARD:0010402|ICD10:H35.5|UMLS:C1853214 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene. UMLS:C1853214|MESH:C565206|http://identifiers.org/omim/610282|DOID:0110357 http://purl.obolibrary.org/obo/MONDO_0012463 RP35|retinitis pigmentosa 35|RP 35|retinitis pigmentosa caused by mutation in SEMA4A|retinitis pigmentosa type 35|SEMA4A retinitis pigmentosa|retinitis pigmentosa 35; RP35 gard_rare HP:0001880 Eosinophilia biolink:PhenotypicFeature mondo MSH:D004802|UMLS:C0014457 Increased count of eosinophils in the blood. http://purl.obolibrary.org/obo/HP_0001880 High blood eosinophil count HP:0001881 Abnormal leukocyte morphology biolink:PhenotypicFeature mondo UMLS:C0152009|SNOMEDCT_US:24827003|SNOMEDCT_US:134199001 An abnormality of leukocytes. http://purl.obolibrary.org/obo/HP_0001881 Abnormal leukocyte function|Abnormality of leukocytes MONDO:0012464 cone-rod dystrophy 10 biolink:Disease mondo OMIM:610283|DOID:0111017|UMLS:C1846529|MESH:C564597 Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene. MESH:C564597|UMLS:C1846529|DOID:0111017|http://identifiers.org/omim/610283 http://purl.obolibrary.org/obo/MONDO_0012464 CORD10|SEMA4A cone-rod dystrophy|cone-rod dystrophy type 10|cone-rod dystrophy 10; CORD10|cone-rod dystrophy 10|cone-rod dystrophy caused by mutation in SEMA4A MONDO:0012469 MYP14 biolink:Disease mondo OMIM:610320|UMLS:C1853196|MESH:C565202 http://identifiers.org/omim/610320|UMLS:C1853196|MESH:C565202 http://purl.obolibrary.org/obo/MONDO_0012469 myopia 14; MYP14|MYP14|myopia 14 MONDO:0012467 cold-induced sweating syndrome 2 biolink:Disease mondo DOID:0080330|MESH:C564791|OMIM:610313|UMLS:C1853198 Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene. http://identifiers.org/omim/610313|UMLS:C1853198|MESH:C564791|DOID:0080330 http://purl.obolibrary.org/obo/MONDO_0012467 CLCF1 cold-induced sweating syndrome|cold-induced sweating syndrome 2|Crisponi/cold-induced sweating syndrome 2|CRISPONI/cold-induced sweating syndrome 2; CISS2|CISS2|cold-induced sweating syndrome 2; CISS2|cold-induced sweating syndrome type 2|cold-induced sweating syndrome caused by mutation in CLCF1 MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa biolink:Disease mondo GARD:0009968|MESH:C537610|UMLS:C1853197|OMIM:610319 http://identifiers.org/omim/610319|UMLS:C1853197|MESH:C537610 http://purl.obolibrary.org/obo/MONDO_0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa gard_rare ENVO:01001164 geodiversity biolink:OntologyClass mondo A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. http://purl.obolibrary.org/obo/ENVO_01001164 MONDO:0012461 bulimia nervosa, susceptibility to, 2 biolink:Disease mondo OMIM:610269 http://identifiers.org/omim/610269 http://purl.obolibrary.org/obo/MONDO_0012461 moved to 607499 and 606788|BULN2|bulimia nervosa, susceptibility to, 2; BULN2|anorexia nervosa, susceptibility to, 2|bulimia nervosa, susceptibility to, type 2|susceptibility to bulimia nervosa 2|bulimia nervosa, susceptibility to, 2 predisposition MONDO:0012462 autosomal recessive frontotemporal pachygyria biolink:Disease mondo UMLS:C1853215|OMIM:610279|GARD:0010003|MESH:C538092|ICD10:Q04.3|Orphanet:329329 UMLS:C1853215|MESH:C538092|ORPHA:329329|http://identifiers.org/omim/610279 http://purl.obolibrary.org/obo/MONDO_0012462 pachygyria, frontotemporal ordo_malformation_syndrome MONDO:0012460 autosomal recessive nonsyndromic deafness 67 biolink:Disease mondo UMLS:C1853223|MESH:C565207|OMIM:610265|DOID:0110518|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene. UMLS:C1853223|MESH:C565207|http://identifiers.org/omim/610265|DOID:0110518 http://purl.obolibrary.org/obo/MONDO_0012460 autosomal recessive nonsyndromic deafness type 67|autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5|deafness, autosomal recessive type 67|deafness, autosomal recessive 67; DFNB67|LHFPL5 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 67|DFNB67|autosomal recessive deafness 67 clingen MONDO:0000487 hemidystonia biolink:Disease mondo SCTID:427232004|DOID:0050846|ICD9:333.99|UMLS:C1960561 A multifocal dystonia that involves the arm and leg on the same side of the body. SNOMEDCT:427232004|UMLS:C1960561|DOID:0050846 http://purl.obolibrary.org/obo/MONDO_0000487 MONDO:0024432 nerve plexus disease biolink:Disease mondo UMLS:C1335437|NCIT:C27744|SCTID:2231001|DOID:3688 A disease that involves the nerve plexus. DOID:3688|NCIT:C27744|UMLS:C1335437|SNOMEDCT:2231001 http://purl.obolibrary.org/obo/MONDO_0024432 nerve plexus disorder|nerve plexus disease or disorder|disorder of nerve plexus|disease of nerve plexus|disorder of nerve plexus|disease or disorder of nerve plexus|nerve plexus disease|plexopathy MONDO:0000486 craniofacial dystonia biolink:Disease mondo UMLS:C4023011|DOID:0050845|GARD:0010667 A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. UMLS:C4023011|DOID:0050845 http://purl.obolibrary.org/obo/MONDO_0000486 cranio-facial dystonia gard_rare MONDO:0024431 bilirubin metabolism disease biolink:Disease mondo SCTID:80006005 SNOMEDCT:80006005 http://purl.obolibrary.org/obo/MONDO_0024431 disorder of bilirubin metabolism MONDO:0000485 spasmodic dystonia biolink:Disease mondo UMLS:C1963946|DOID:0050844|Orphanet:93961|MESH:D055154|ICD9:478.79|SCTID:3331000119108|GARD:0007668 A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx. SNOMEDCT:3331000119108|ORPHA:93961|MESH:D055154|DOID:0050844|UMLS:C1963946 http://purl.obolibrary.org/obo/MONDO_0000485 mixed spasmodic dysphonia (type)|laryngeal dyskinesia|spastic dysphonia|spasmodic dysphonia|adductor spasmodic dysphonia|laryngeal dystonia|abductor spasmodic dysphonia MONDO:0000484 obsolete oromandibular dystonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000484 MONDO:0000489 diabetic encephalopathy biolink:Disease mondo DOID:0050850 A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. DOID:0050850 http://purl.obolibrary.org/obo/MONDO_0000489 MONDO:0000488 periampullary adenoma biolink:Disease mondo DOID:0050849|UMLS:CN068444 A adenoma that involves the periampullary region of duodenum. DOID:0050849|UMLS:CN068444 http://purl.obolibrary.org/obo/MONDO_0000488 periampullary region of duodenum adenoma MONDO:0012449 spinocerebellar ataxia type 23 biolink:Disease mondo GARD:0009950|UMLS:C4305146|DOID:0050973|UMLS:C1853250|MESH:C537201|Orphanet:101108|SCTID:718772002|OMIM:610245|ICD10:G11.2 Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. MESH:C537201|http://identifiers.org/omim/610245|SNOMEDCT:718772002|DOID:0050973|UMLS:C1853250|ORPHA:101108|UMLS:C4305146 http://purl.obolibrary.org/obo/MONDO_0012449 spinocerebellar ataxia type 23|spinocerebellar ataxia 23; SCA23|spinocerebellar ataxia 23|SCA23 ordo_disease MONDO:0000483 oculogyric crisis biolink:Disease mondo DOID:0050842 A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. DOID:0050842 http://purl.obolibrary.org/obo/MONDO_0000483 MONDO:0000482 focal hand dystonia biolink:Disease mondo SCTID:52008007|ICD9:333.84|DOID:0050841|UMLS:C0154676 A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. UMLS:C0154676|SNOMEDCT:52008007|DOID:0050841 http://purl.obolibrary.org/obo/MONDO_0000482 hand and arm dystonia|organic writer's cramp|writer's cramp MONDO:0000481 cervical dystonia biolink:Disease mondo GARD:0010668|Orphanet:93962|SCTID:74333002|ICD9:333.83|NCIT:C85072|DOID:0050840|COHD:376387 Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery. ORPHA:93962|SNOMEDCT:74333002|DOID:0050840|NCIT:C85072 http://purl.obolibrary.org/obo/MONDO_0000481 spasmodic torticollis gard_rare MONDO:0024430 allesthesia biolink:Disease mondo MESH:D066190 A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus. MESH:D066190 http://purl.obolibrary.org/obo/MONDO_0024430 Dyschirias|Alloesthesias|Allachesthesia|allochiria|Allesthesias|Allachesthesias|Alloesthesia|dyschiria|false allochiria MONDO:0000480 anismus biolink:Disease mondo DOID:0050839|UMLS:C0267601|ICD9:569.49|SCTID:83605009 A focal dystonia of the pelvic floor muscles during attempted defecation. UMLS:C0267601|SNOMEDCT:83605009|DOID:0050839 http://purl.obolibrary.org/obo/MONDO_0000480 dyssynergic defecation|spastic pelvic floor syndrome|puborectalis syndrome|focal dystonia of anal region skeletal muscle|anal region skeletal muscle focal dystonia|dyskinetic puborectalis|sphincteric disobedience syndrome|rectosphincteric dyssynergia MONDO:0012454 alcohol sensitivity, acute biolink:Disease mondo OMIM:610251|GARD:0012634 Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment. http://identifiers.org/omim/610251 http://purl.obolibrary.org/obo/MONDO_0012454 alcohol intolerance|acute alcohol sensitivity|alcohol sensitivity, acute|Hangover, susceptibility to gard_rare MONDO:0012455 Kleefstra syndrome biolink:Disease mondo UMLS:C0795833|MESH:C563043|ICD10:Q87.8|DOID:0060352|OMIMPS:610253|GARD:0008672|NCIT:C129976|Orphanet:261494|SCTID:724207001 Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. NCIT:C129976|MESH:C563043|DOID:0060352|SNOMEDCT:724207001|ORPHA:261494|UMLS:C0795833 http://purl.obolibrary.org/obo/MONDO_0012455 9q subtelomeric deletion syndrome|9q34 deletion syndrome|Kleefstra syndrome|9Q- syndrome|9q-syndrome|chromosome 9q deletion syndrome|9Q subtelomeric deletion syndrome|chromosome 9Q34.3 deletion syndrome|9q34.3 microdeletion syndrome prototype_pattern|gard_rare|ordo_malformation_syndrome HP:0001894 Thrombocytosis biolink:PhenotypicFeature mondo SNOMEDCT_US:6631009|SNOMEDCT_US:415115007|MSH:D013922|UMLS:C0857460|UMLS:C0836924 Increased numbers of platelets in the peripheral blood. http://purl.obolibrary.org/obo/HP_0001894 Increased platelet count|Thrombocythemia|Increased number of platelets in blood|Thrombocythaemia MONDO:0012452 autosomal recessive nonsyndromic deafness 65 biolink:Disease mondo MESH:C565211|OMIM:610248|UMLS:C1853248|DOID:0110516|ICD10:H90.3 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3. UMLS:C1853248|DOID:0110516|MESH:C565211|http://identifiers.org/omim/610248 http://purl.obolibrary.org/obo/MONDO_0012452 deafness, autosomal recessive 65; DFNB65|autosomal recessive deafness 65|deafness, autosomal recessive 65|autosomal recessive nonsyndromic deafness type 65|DFNB65 MONDO:0012453 hereditary spastic paraplegia 31 biolink:Disease mondo UMLS:C1853247|MESH:C565210|ICD10:G11.4|OMIM:610250|GARD:0010817|DOID:0110782|SCTID:763068005|Orphanet:101011 A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. UMLS:C1853247|DOID:0110782|ORPHA:101011|SNOMEDCT:763068005|MESH:C565210|http://identifiers.org/omim/610250 http://purl.obolibrary.org/obo/MONDO_0012453 autosomal dominant spastic paraplegia 31|REEP1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 31|SPG31|hereditary spastic paraplegia caused by mutation in REEP1|spastic paraplegia 31, autosomal dominant|spastic paraplegia 31|spastic paraplegia 31, autosomal dominant; SPG31|hereditary spastic paraplegia type 31 ordo_disease HP:0001892 Abnormal bleeding biolink:PhenotypicFeature mondo SNOMEDCT_US:64779008|SNOMEDCT_US:248250000|UMLS:C1458140 An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. http://purl.obolibrary.org/obo/HP_0001892 Bleeding tendency|Hemorrhagic diathesis|Bleeding diathesis MONDO:0012458 hypertension, essential, susceptibility to, 5 biolink:Disease mondo OMIM:610261 http://identifiers.org/omim/610261 http://purl.obolibrary.org/obo/MONDO_0012458 hypertension, essential, susceptibility to, type 5|Hyt5|hypertension, essential, susceptibility to, 5|hypertension, essential, body Mass-related predisposition MONDO:0012459 hypertension, essential, susceptibility to, 6 biolink:Disease mondo OMIM:610262 http://identifiers.org/omim/610262 http://purl.obolibrary.org/obo/MONDO_0012459 hypertension, essential, susceptibility to, type 6|Hyt6|hypertension, essential, kidney function-related|hypertension, essential, susceptibility to, 6 predisposition HGNC:33425 MIAT biolink:OntologyClass mondo http://identifiers.org/hgnc/33425 MONDO:0012456 congenital primary aphakia biolink:Disease mondo OMIM:610256|MESH:C537786|SCTID:35387008|MedDRA:10002947|NCIT:C35172|ICD9:743.35|DOID:11367|Orphanet:83461|GARD:0009952|ICD10:Q12.3 Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents. MESH:C537786|http://identifiers.org/omim/610256|ORPHA:83461|UMLS:C1853230|DOID:11367|MEDDRA:10002947|NCIT:C35172|SNOMEDCT:35387008 http://purl.obolibrary.org/obo/MONDO_0012456 congenital aphakia|CPA|ASGD2|aphakia, congenital primary|congenital absence of lens|anterior segment dysgenesis 2|anterior segment dysgenesis 2; ASGD2 ordo_malformation_syndrome MONDO:0012457 IHPS2 biolink:Disease mondo OMIM:610260|MESH:C565208|UMLS:C1853228 MESH:C565208|http://identifiers.org/omim/610260|UMLS:C1853228 http://purl.obolibrary.org/obo/MONDO_0012457 pyloric stenosis, infantile hypertrophic, 2|IHPS2|pyloric stenosis, infantile hypertrophic, 2; IHPS2 MONDO:0024429 Alice in wonderland syndrome biolink:Disease mondo NCIT:C116362|MESH:D062026 A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities. NCIT:C116362|MESH:D062026 http://purl.obolibrary.org/obo/MONDO_0024429 ENVO:01001154 volatile astrogeological material biolink:OntologyClass mondo A material which is composed primarily of chemical elements and compounds with relatively low boiling points, equilibrium condensation temperatures below 1300 Kelvin, and which are part of the crust or atmosphere of a moon or planet. http://purl.obolibrary.org/obo/ENVO_01001154 volatile ENVO:01001155 astrogeological gas biolink:OntologyClass mondo An astrogeological volatile which is composed primarily of chemical compounds with boiling points around those of hydrogen and helium. http://purl.obolibrary.org/obo/ENVO_01001155 gas MONDO:0012450 spinocerebellar ataxia type 28 biolink:Disease mondo OMIM:610246|UMLS:C1853249|SCTID:715824008|ICD10:G11.1|DOID:0050977|MESH:C537205|GARD:0009951|UMLS:C4274988|Orphanet:101109 Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. DOID:0050977|UMLS:C1853249|ORPHA:101109|SNOMEDCT:715824008|MESH:C537205|UMLS:C4274988|http://identifiers.org/omim/610246 http://purl.obolibrary.org/obo/MONDO_0012450 spinocerebellar ataxia 28|SCA28|spinocerebellar ataxia type 28|spinocerebellar ataxia 28; SCA28 ordo_disease MONDO:0012451 EOE1 biolink:Disease mondo OMIM:610247 http://identifiers.org/omim/610247 http://purl.obolibrary.org/obo/MONDO_0012451 EOE1|esophagitis, eosinophilic|esophagitis, eosinophilic, 1|esophagitis, eosinophilic, 1; EOE1 MONDO:0024421 short stature contractures hypotonia biolink:Disease mondo GARD:0004839 http://purl.obolibrary.org/obo/MONDO_0024421 Hennekam Koss de Geest syndrome gard_rare MONDO:0000454 obsolete multiple synostoses syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000454 MONDO:0000453 short QT syndrome biolink:Disease mondo NCIT:C71060|SCTID:698272007|MESH:C580439|ICD9:426.89|DOID:0050793|Orphanet:51083|UMLS:C2348199|OMIMPS:609620|ICD10:I49.8 A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified DOID:0050793|MESH:C580439|NCIT:C71060|UMLS:C2348199|ORPHA:51083|SNOMEDCT:698272007 http://purl.obolibrary.org/obo/MONDO_0000453 familial short QT syndrome|ventricular arrhythmia associated with short QT syndrome prototype_pattern|ordo_disease MONDO:0000452 progressive relapsing multiple sclerosis biolink:Disease mondo DOID:0050785|UMLS:C0393666|SCTID:230374002 A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. DOID:0050785|SNOMEDCT:230374002|UMLS:C0393666 http://purl.obolibrary.org/obo/MONDO_0000452 progressive-relapsing MS|PRMS MONDO:0024422 auditory perceptual disorders biolink:Disease mondo SCTID:229752008|MESH:D001308|NCIT:C84575|UMLS:C0751257 Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech. SNOMEDCT:229752008|UMLS:C0751257|NCIT:C84575|MESH:D001308 http://purl.obolibrary.org/obo/MONDO_0024422 auditory processing disorders|comprehension disorder, auditory|disorder of sensory perception of sound|perceptual disorder, acoustic|Inattentions, auditory|disorders, Psychoacoustical|inattention, auditory|auditory processing disorder|perceptual disorders, acoustic|disorders, auditory comprehension|comprehension disorders, auditory|acoustic perceptual disorder|disorder, Psychoacoustical|disorder, acoustic perceptual|processing disorders, auditory|Psychoacoustical disorders|sensory perception of sound disease|auditory inattention|disorder, auditory processing|disorders, acoustic perceptual|disorder, auditory comprehension|perceptual disorder, auditory|auditory comprehension disorders|auditory comprehension disorder|disorders, auditory processing|perceptual disorders, auditory|disorder of sensory perception of sound|auditory Inattentions|auditory perceptual disorder|Psychoacoustical disorder|acoustic perceptual disorders|processing disorder, auditory MONDO:0000451 primary progressive multiple sclerosis biolink:Disease mondo DOID:0050784|UMLS:C0751964|EFO:0008520|SCTID:428700003 A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. DOID:0050784|UMLS:C0751964|SNOMEDCT:428700003 http://purl.obolibrary.org/obo/MONDO_0000451 primary-progressive MS|PPMS MONDO:0000458 proneural glioblastoma biolink:Disease mondo UMLS:C3828464|NCIT:C111692|DOID:0050804 A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications. UMLS:C3828464|DOID:0050804|NCIT:C111692 http://purl.obolibrary.org/obo/MONDO_0000458 glioblastoma proneural subtype|proneural glioblastoma GO:0110111 negative regulation of animal organ morphogenesis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of animal organ morphogenesis. http://purl.obolibrary.org/obo/GO_0110111 HGNC:21424 IFT74 biolink:OntologyClass mondo http://identifiers.org/hgnc/21424 MONDO:0000457 classical glioblastoma biolink:Disease mondo NCIT:C111694|UMLS:C3827253|DOID:0050803 A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification. UMLS:C3827253|DOID:0050803|NCIT:C111694 http://purl.obolibrary.org/obo/MONDO_0000457 classical glioblastoma|glioblastoma classical subtype MONDO:0000456 cerebral creatine deficiency syndrome biolink:Disease mondo DOID:0050798|Orphanet:79172|UMLS:CN227588|OMIMPS:300352|ICD10:E72.8 Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency. ORPHA:79172|DOID:0050798|UMLS:CN227588 http://purl.obolibrary.org/obo/MONDO_0000456 CDS|CCDS|creatine deficiency syndrome|cerebral creatine deficiency syndrome ordo_group_of_disorders MONDO:0000455 cone dystrophy biolink:Disease mondo GARD:0011897|Orphanet:1871|DOID:0050795|SCTID:312917007|UMLS:C0730290|ICD10:H35.5|ICD9:362.75 An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. ORPHA:1871|DOID:0050795|UMLS:C0730290|UMLS:C0271092|SNOMEDCT:312917007 http://purl.obolibrary.org/obo/MONDO_0000455 cone dystrophy|progressive cone dystrophy|retinal cone dystrophy|stationary cone dystrophy ordo_disease GO:0110110 positive regulation of animal organ morphogenesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of animal organ morphogenesis. http://purl.obolibrary.org/obo/GO_0110110 MONDO:0012438 pontocerebellar hypoplasia type 5 biolink:Disease mondo UMLS:C1857762|SCTID:718607001|MESH:C537745|ICD10:Q04.3|GARD:0010709|DOID:0060274|Orphanet:166068|OMIM:610204 Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. UMLS:C1857762|SNOMEDCT:718607001|MESH:C537745|http://identifiers.org/omim/610204|DOID:0060274|ORPHA:166068 http://purl.obolibrary.org/obo/MONDO_0012438 pontocerebellar hypoplasia, type 5|pontocerebellar hypoplasia, type 5; PCH5|olivopontocerebellar hypoplasia, fetal-onset|fetal-onset olivopontocerebellar hypoplasia|PCH5|olivopontocerebellar hypoplasia fetal-onset gard_rare|ordo_malformation_syndrome MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation biolink:Disease mondo Orphanet:261629|ICD10:Q44.7|UMLS:C1857761|OMIM:610205 ORPHA:261629|UMLS:C1857761|http://identifiers.org/omim/610205 http://purl.obolibrary.org/obo/MONDO_0012439 Alagille syndrome 2|Alagille syndrome type 2|Alagille syndrome 2; ALGS2|Alagille-Watson syndrome due to a NOTCH2 point mutation|Arteriohepatic dysplasia due to a NOTCH2 point mutation|syndromic bile duct paucity due to a NOTCH2 point mutation|ALGS2 ordo_etiological_subtype MONDO:0000450 secondary progressive multiple sclerosis biolink:Disease mondo DOID:0050783|EFO:0008522|UMLS:C0751965|SCTID:425500002 A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase. DOID:0050783|UMLS:C0751965|SNOMEDCT:425500002 http://purl.obolibrary.org/obo/MONDO_0000450 secondary-progressive MS|SPMS MONDO:0012443 ANIB4 biolink:Disease mondo UMLS:C1857749|MESH:C565700|OMIM:610213 http://identifiers.org/omim/610213|MESH:C565700|UMLS:C1857749 http://purl.obolibrary.org/obo/MONDO_0012443 aneurysm, intracranial BERRY, 4|ANIB4|aneurysm, intracranial BERRY, 4; ANIB4 MONDO:0012444 neurodegeneration with brain iron accumulation 2B biolink:Disease mondo DOID:0110736|OMIM:610217|ICD10:G23.0|GARD:0010688 http://identifiers.org/omim/610217|DOID:0110736 http://purl.obolibrary.org/obo/MONDO_0012444 neurodegeneration with brain iron accumulation type 2b|neurodegeneration with brain iron accumulation, Pla2g6-related|neurodegeneration with brain iron accumulation 2B; NBIA2B|Karak syndrome|atypical neuroaxonal dystrophy|neurodegeneration with brain iron accumulation 2B|NBIA2B|NBIA2b|neurodegeneration with brain iron accumulation type 2B|neurodegeneration with brain iron accumulation, Pla2G6-related|early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline|neuroaxonal dystrophy, atypical MONDO:0012441 migraine with or without aura, susceptibility to, 11 biolink:Disease mondo OMIM:610209 http://identifiers.org/omim/610209 http://purl.obolibrary.org/obo/MONDO_0012441 migraine with or without aura, susceptibility to, 11|Mgr11|migraine with or without aura, susceptibility to, type 11 predisposition MONDO:0012442 autosomal recessive nonsyndromic deafness 66 biolink:Disease mondo UMLS:C1857750|ICD10:H90.3|OMIM:610212|MESH:C565701|DOID:0110517 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene. http://identifiers.org/omim/610212|MESH:C565701|DOID:0110517|UMLS:C1857750 http://purl.obolibrary.org/obo/MONDO_0012442 DFNB66|autosomal recessive deafness 66|DCDC2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 66|autosomal recessive nonsyndromic deafness caused by mutation in DCDC2|deafness, autosomal recessive type 66|deafness, autosomal recessive 66; DFNB66|deafness, autosomal recessive 66 MONDO:0012447 synpolydactyly type 3 biolink:Disease mondo UMLS:C1853255|ICD10:Q70.2|ICD10:Q70.0|Orphanet:295199|OMIM:610234|MESH:C565216 MESH:C565216|ORPHA:295199|http://identifiers.org/omim/610234|UMLS:C1853255 http://purl.obolibrary.org/obo/MONDO_0012447 SD2, Malik type|synpolydactyly 3; SPD3|SD2c|SPD3|synpolydactyly 3|SPD, Malik type|synpolydactyly, Malik type ordo_clinical_subtype MONDO:0012448 hereditary spastic paraplegia 33 biolink:Disease mondo UMLS:C1853251|MESH:C565214|OMIM:610244|DOID:0110784 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene. MESH:C565214|http://identifiers.org/omim/610244|DOID:0110784|UMLS:C1853251 http://purl.obolibrary.org/obo/MONDO_0012448 spastic paraplegia 33, autosomal dominant|hereditary spastic paraplegia type 33|autosomal dominant spastic paraplegia 33|spastic paraplegia 33, autosomal dominant; SPG33|SPG33|ZFYVE27 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in ZFYVE27 MONDO:0012445 autosomal recessive nonsyndromic deafness 59 biolink:Disease mondo MESH:C565698|OMIM:610220|DOID:0110511|UMLS:C1857744|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene. UMLS:C1857744|http://identifiers.org/omim/610220|MESH:C565698|DOID:0110511 http://purl.obolibrary.org/obo/MONDO_0012445 deafness, autosomal recessive 59; DFNB59|deafness, autosomal recessive type 59|autosomal recessive nonsyndromic deafness caused by mutation in PJVK|DFNB59|deafness, autosomal recessive 59|autosomal recessive deafness 59|PJVK autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 59 MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements biolink:Disease mondo UMLS:C1853258|Orphanet:168606|OMIM:610227|MESH:C565217 MESH:C565217|http://identifiers.org/omim/610227|UMLS:C1853258|ORPHA:168606 http://purl.obolibrary.org/obo/MONDO_0012446 seborrhea-like dermatitis with psoriasiform elements ordo_disease MONDO:0024418 muscular fibrosis multifocal obstructed vessels biolink:Disease mondo Orphanet:2033|GARD:0003857 ORPHA:2033 http://purl.obolibrary.org/obo/MONDO_0024418 gard_rare MONDO:0024417 perceptual disorders biolink:Disease mondo MESH:D010468 Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. MESH:D010468 http://purl.obolibrary.org/obo/MONDO_0024417 MONDO:0000449 obsolete Opitz-GBBB syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000449 MONDO:0024419 enthesitis biolink:Disease mondo SCTID:359643005|NCIT:C114470|UMLS:C1282952 Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone. UMLS:C1282952|NCIT:C114470|SNOMEDCT:359643005 http://purl.obolibrary.org/obo/MONDO_0024419 inflammatory enthesopathy|enthesitis|inflammation of enthesis|enthesis inflammation MONDO:0000448 paraganglioma biolink:Disease mondo EFO:1000453|ICD9:239.7|NCIT:C3308|OMIMPS:168000|DOID:0050773|ICDO:8680/1|SCTID:127027008|ONCOTREE:PGNG|MESH:D010235|UMLS:C0030421 A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. UMLS:C0030421|SNOMEDCT:127027008|DOID:0050773|MESH:D010235|NCIT:C3308 http://purl.obolibrary.org/obo/MONDO_0000448 paraganglioma|chemodectoma|paragangliomas|neoplasm of paraganglion|neoplasm of the paraganglion|Paraganglionic neoplasm|paraganglion tumor|paraganglion neoplasm|Paraganglionic tumor|tumor of paraganglion|tumor of the paraganglion MONDO:0012440 migraine with or without aura, susceptibility to, 10 biolink:Disease mondo OMIM:610208 http://identifiers.org/omim/610208 http://purl.obolibrary.org/obo/MONDO_0012440 migraine with or without aura, susceptibility to, 10|migraine with pulsation|Mgr10|migraine with or without aura, susceptibility to, type 10 predisposition MONDO:0000465 atrioventricular block (disease) biolink:Disease mondo ICD9:426.10|HP:0001678|ICD10:I44.30|UMLS:C0004245|ICD10:I44.3|COHD:316135|MESH:D054537|DOID:0050820|SCTID:233917008 A heart block that is initiated in the atrioventricular node. MESH:D054537|DOID:0050820|UMLS:C0004245|NCIT:C26703|SNOMEDCT:233917008 http://purl.obolibrary.org/obo/MONDO_0000465 atrioventricular block|AVB|AV block|AV nodal block MONDO:0024410 infection caused by Bifidobacterium biolink:Disease mondo SCTID:721759009|UMLS:C1096283 A disease caused by infection with Bifidobacterium. UMLS:C1096283|SNOMEDCT:721759009 http://purl.obolibrary.org/obo/MONDO_0024410 infection caused by Bifidobacterium|Bifidobacterium infection|Bifidobacterium disease or disorder|Bifidobacterium infectious disease|Bifidobacterium caused disease or disorder MONDO:0000464 obsolete Stargardt disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000464 MONDO:0000463 Ochoa syndrome biolink:Disease mondo Orphanet:2704|MESH:C536480|DOID:0050816|SCTID:236533008|GARD:0000104|ICD10:N31.8|OMIMPS:236730 Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. MESH:C536480|DOID:0050816|UMLS:C0403555|SNOMEDCT:236533008|ORPHA:2704 http://purl.obolibrary.org/obo/MONDO_0000463 UFS|hydronephrosis-inverted smile syndrome|inverted smile and occult neuropathic bladder|partial facial palsy with urinary abnormalities|urofacial syndrome|Ochoa syndrome|urofacial Ochoa's syndrome|inverted smile-neurogenic bladder syndrome|hydronephrosis with peculiar facial expression gard_rare|ordo_malformation_syndrome MONDO:0024412 Peptostreptococcus infectious disease biolink:Disease mondo ICD9:041.84|SCTID:135341000119101|UMLS:C1096562 A disease caused by infection with Peptostreptococcus. SNOMEDCT:135341000119101|UMLS:C1096562 http://purl.obolibrary.org/obo/MONDO_0024412 Peptostreptococcus infection|Peptostreptococcus caused disease or disorder|Peptostreptococcus disease or disorder MONDO:0000462 eye adnexa disease biolink:Disease mondo DOID:0050815|SCTID:118941004|UMLS:C1290855|ICD10:H00.H06 A disease involving the ocular adnexa. DOID:0050815|SNOMEDCT:118941004|UMLS:C1290855 http://purl.obolibrary.org/obo/MONDO_0000462 disorder of ocular adnexa|disorder of ocular adnexa|ocular adnexa disease|disease or disorder of ocular adnexa|ocular adnexa disease or disorder|disease of ocular adnexa MONDO:0000469 sinoatrial node disease biolink:Disease mondo DOID:0050824 A disease involving the sinoatrial node. DOID:0050824 http://purl.obolibrary.org/obo/MONDO_0000469 sinuatrial node|disease of sinoatrial node|sinoatrial node disease or disorder|disorder of sinoatrial node|disorder of sinoatrial node|sinoatrial node disease|SA node|disease or disorder of sinoatrial node MONDO:0024414 anaerobic cellulitis biolink:Disease mondo ICD9:041.84|UMLS:C0241828|ICD9:682.9|SCTID:238401006 UMLS:C0241828|SNOMEDCT:238401006 http://purl.obolibrary.org/obo/MONDO_0024414 anaerobic cellulitis MONDO:0000468 third-degree atrioventricular block biolink:Disease mondo ICD9:426.0|UMLS:C0151517|NCIT:C50501|SCTID:27885002|DOID:0050823 A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) SNOMEDCT:27885002|NCIT:C50501|DOID:0050823|UMLS:C0151517 http://purl.obolibrary.org/obo/MONDO_0000468 complete AV block|atrioventricular block, third degree|complete atrioventricular block|third degree AV block|complete heart block|AV block third degree|non-congenital complete atrioventricular block|atrioventricular block complete|third degree atrioventricular block MONDO:0000467 second-degree atrioventricular block biolink:Disease mondo UMLS:C0264906|SCTID:195042002|ICD9:426.13|NCIT:C111119|COHD:318448|UMLS:C1621824|DOID:0050822 Intermittent failure of atrial electrical impulse conduction to the ventricles. SNOMEDCT:195042002|UMLS:C1621824|DOID:0050822|UMLS:C0264906|NCIT:C111119 http://purl.obolibrary.org/obo/MONDO_0000467 second-degree heart block|atrioventricular block second degree|second degree atrioventricular block|atrioventricular block, second degree|AV block second degree|second degree AV block MONDO:0024416 Neorickettsia infectious disease biolink:Disease mondo UMLS:C0276121|SCTID:78355003 A disease caused by infection with Neorickettsia. UMLS:C0276121|SNOMEDCT:78355003 http://purl.obolibrary.org/obo/MONDO_0024416 neorickettsiosis|Neorickettsia caused disease or disorder|Neorickettsia disease or disorder MONDO:0000466 first-degree atrioventricular block biolink:Disease mondo ICD9:426.11|UMLS:C0085614|COHD:314379|NCIT:C62015|DOID:0050821|SCTID:270492004 A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. NCIT:C62015|DOID:0050821|SNOMEDCT:270492004|UMLS:C0085614 http://purl.obolibrary.org/obo/MONDO_0000466 first degree atrioventricular block|AV block first degree|atrioventricular block, first degree|first degree AV block|atrioventricular block first degree MONDO:0024415 hemorrhagic duodenitis biolink:Disease mondo UMLS:C0341245|SCTID:95531001|ICD9:535.61 UMLS:C0341245|SNOMEDCT:95531001 http://purl.obolibrary.org/obo/MONDO_0024415 multiple duodenal erosions|hemorrhagic duodenitis|erosive duodenitis MONDO:0012429 Aicardi-Goutieres syndrome 2 biolink:Disease mondo OMIM:610181|UMLS:C3489724|GARD:0010894 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene. http://identifiers.org/omim/610181|UMLS:C3489724 http://purl.obolibrary.org/obo/MONDO_0012429 AGS2|Aicardi-Goutieres syndrome type 2|Aicardi-Goutieres syndrome 2|Aicardi-Goutieres syndrome 2; AGS2|RNASEH2B Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in RNASEH2B|RNASEH2B-related Aicardi-Goutieres syndrome HP:0001879 Abnormal eosinophil morphology biolink:PhenotypicFeature mondo UMLS:C4025738 An abnormal count or structure of eosinophils. http://purl.obolibrary.org/obo/HP_0001879 Abnormality of eosinophils HP:0001877 Abnormal erythrocyte morphology biolink:PhenotypicFeature mondo SNOMEDCT_US:12222001|UMLS:C4020862|UMLS:C0391870 Any structural abnormality of erythrocytes (red-blood cells). http://purl.obolibrary.org/obo/HP_0001877 Abnormality of red blood cells|Abnormality of erythroid lineage cell|Abnormality of erythrocytes MONDO:0012427 Loeys-Dietz syndrome 2 biolink:Disease mondo DOID:0070234|GARD:0010586|OMIM:610168|MESH:C537783|NCIT:C114768 A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2. http://identifiers.org/omim/610168|MESH:C537783|NCIT:C114768|DOID:0070234 http://purl.obolibrary.org/obo/MONDO_0012427 Loeys-Dietz syndrome type II|aortic aneurysm, familial thoracic 3|Loeys-Dietz syndrome 2|Loeys-Dietz syndrome 2; LDS2|Marfan syndrome, type II, formerly|Loeys-Dietz syndrome type 2|LDS2|Marfan syndrome, type II|Loeys-Dietz syndrome caused by mutation in TGFBR2|TGFBR2 Loeys-Dietz syndrome MONDO:0012428 KYPSC1 biolink:Disease mondo OMIM:610170|MESH:C565711|UMLS:C1857795 UMLS:C1857795|http://identifiers.org/omim/610170|MESH:C565711 http://purl.obolibrary.org/obo/MONDO_0012428 kyphoscoliosis 1; KYPSC1|KYPSC1|kyphoscoliosis 1 HP:0001878 Hemolytic anemia biolink:PhenotypicFeature mondo MSH:D000743|UMLS:C0002878|SNOMEDCT_US:61261009 A type of anemia caused by premature destruction of red blood cells (hemolysis). http://purl.obolibrary.org/obo/HP_0001878 Hemolytic anaemia|Haemolytic anaemia|Increased hemolysis MONDO:0000461 nutritional biotin deficiency biolink:Disease mondo MESH:C531633|SCTID:49607006|DOID:0050810 DOID:0050810|SNOMEDCT:49607006|MESH:C531633 http://purl.obolibrary.org/obo/MONDO_0000461 vitamine B7 deficiency|biotin deficiency disease|biotin deficiency|B7 deficiency MONDO:0000460 neural glioblastoma biolink:Disease mondo DOID:0050806|UMLS:C3828832|NCIT:C111693 A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5. DOID:0050806|NCIT:C111693|UMLS:C3828832 http://purl.obolibrary.org/obo/MONDO_0000460 neural glioblastoma|glioblastoma neural subtype MONDO:0012432 Joubert syndrome 5 biolink:Disease mondo UMLS:C1857780|MESH:C537688|OMIM:610188|DOID:0111000 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene. UMLS:C1857780|DOID:0111000|MESH:C537688|http://identifiers.org/omim/610188 http://purl.obolibrary.org/obo/MONDO_0012432 Joubert syndrome 5; JBTS5|CEP290 Joubert syndrome|JBTS5|Joubert syndrome 5|Joubert syndrome caused by mutation in CEP290|Joubert syndrome type 5 HP:0001871 Abnormality of blood and blood-forming tissues biolink:PhenotypicFeature mondo UMLS:C4020864|SNOMEDCT_US:191124002|SNOMEDCT_US:34093004|UMLS:C0018939|UMLS:C0850715|MSH:D006402 An abnormality of the hematopoietic system. http://purl.obolibrary.org/obo/HP_0001871 Hematologic disease|Abnormality of the hematopoietic system|Abnormality of the haematopoietic system|Hematological abnormality|Abnormality of blood and blood-forming tissues HP:0001872 Abnormal thrombocyte morphology biolink:PhenotypicFeature mondo MSH:D013915|UMLS:C4020863|SNOMEDCT_US:32942005|UMLS:C0151854|UMLS:C0040015|SNOMEDCT_US:127566005 An abnormality of platelets. http://purl.obolibrary.org/obo/HP_0001872 Thrombasthenia|Blood platelet disease|Platelet abnormalities MONDO:0012433 Senior-Loken syndrome 6 biolink:Disease mondo OMIM:610189|MESH:C565708|UMLS:C1857779 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. UMLS:C1857779|http://identifiers.org/omim/610189|MESH:C565708 http://purl.obolibrary.org/obo/MONDO_0012433 SENIOR-Loken syndrome 6; SLSN6|Senior-Loken syndrome 6|SLSN6|Senior-Loken syndrome caused by mutation in CEP290|CEP290 Senior-Loken syndrome|Senior-Loken syndrome type 6 MONDO:0012430 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 biolink:Disease mondo MESH:C567656|UMLS:C2750234|OMIM:610185 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene. http://identifiers.org/omim/610185|UMLS:C2750234|MESH:C567656 http://purl.obolibrary.org/obo/MONDO_0012430 dysequilibrium syndrome caused by mutation in WDR81|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; CAMRQ2|CAMRQ2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; CAMRQ2|WDR81 dysequilibrium syndrome|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MONDO:0012431 diaphragmatic hernia 3 biolink:Disease mondo OMIM:610187|MESH:C565710 Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene. http://identifiers.org/omim/610187|MESH:C565710 http://purl.obolibrary.org/obo/MONDO_0012431 diaphragmatic hernia 3; DIH3|ZFPM2 congenital diaphragmatic hernia|congenital diaphragmatic hernia caused by mutation in ZFPM2|diaphragmatic hernia 3|diaphragmatic hernia type 3|DIH3 MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism biolink:Disease mondo Orphanet:79118|OMIM:610199|MESH:C565705|DOID:0060638|UMLS:C1857775 A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others UMLS:C1857775|http://identifiers.org/omim/610199|MESH:C565705|ORPHA:79118|DOID:0060638 http://purl.obolibrary.org/obo/MONDO_0012436 diabetes mellitus, neonatal, with congenital hypothyroidism; NDH|NDH syndrome|neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome|diabetes mellitus, neonatal, with congenital hypothyroidism|NDH|Ndh syndrome ordo_disease MONDO:0012437 cataract 21 multiple types biolink:Disease mondo OMIM:610202|DOID:0110256|MESH:C565703|ICD10:Q12.0 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene. http://identifiers.org/omim/610202|DOID:0110256|MESH:C565703 http://purl.obolibrary.org/obo/MONDO_0012437 CTRCT21|congenital cataract cerulean type 4|CCA4|cataract 21, multiple types; CTRCT21|cataract 21, multiple types|MAF early-onset non-syndromic cataract|cataract, congenital, cerulean type, 4|early-onset non-syndromic cataract caused by mutation in MAF|cataract 21, multiple types, with or without microcornea|cataract, pulverulent, juvenile-onset|cataract 21 multiple types with or without microcornea HP:0001876 Pancytopenia biolink:PhenotypicFeature mondo SNOMEDCT_US:127034005|UMLS:C0030312|MSH:D010198 An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). http://purl.obolibrary.org/obo/HP_0001876 Low blood cell count MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 biolink:Disease mondo DOID:0110081|UMLS:C1857777|OMIM:610193|ICD10:I42.8|MESH:C565707 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. UMLS:C1857777|http://identifiers.org/omim/610193|DOID:0110081|MESH:C565707 http://purl.obolibrary.org/obo/MONDO_0012434 arrhythmogenic right ventricular dysplasia, familial, 10|DSG2 arrhythmogenic right ventricular cardiomyopathy|ARVD10|ARVC10|arrhythmogenic right ventricular dysplasia type 10|familial arrhythmogenic right ventricular dysplasia 10|arrhythmogenic right ventricular dysplasia, familial, 10; ARVD10|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2|arrhythmogenic right ventricular cardiomyopathy 10|arrhythmogenic right ventricular dysplasia, familial, type 10 HP:0001873 Thrombocytopenia biolink:PhenotypicFeature mondo SNOMEDCT_US:302215000|SNOMEDCT_US:415116008|MSH:D013921|UMLS:C0040034|UMLS:C0392386 A reduction in the number of circulating thrombocytes. http://purl.obolibrary.org/obo/HP_0001873 Low platelet count MONDO:0012435 3-methylglutaconic aciduria type 5 biolink:Disease mondo UMLS:C4039473|GARD:0010344|ICD10:E71.1|OMIM:610198|UMLS:C1857776|MESH:C565706|GARD:0012964|DOID:0110000|SCTID:711412004|Orphanet:66634 Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria. UMLS:C1857776|DOID:0110000|http://identifiers.org/omim/610198|UMLS:C4039473|MESH:C565706|ORPHA:66634|SNOMEDCT:711412004 http://purl.obolibrary.org/obo/MONDO_0012435 MGA 5|3-methylglutaconic aciduria type 5|3-METHYLGLUTACONIC aciduria, type V|3 alpha methylglutaconic aciduria type V|DCMA syndrome|dilated cardiomyopathy with ataxia|3 methylglutaconic aciduria type V|DNAJC19 3-methylglutaconic aciduria|MGA5|3-methylglutaconic aciduria type V|3-methylglutaconic aciduria caused by mutation in DNAJC19|DCMA|MGCA5|3-Methylglutaconic aciduria, type 5|cardiomyopathy, dilated, with ataxia|Mga, type 5|MGA V|3-METHYLGLUTACONIC aciduria, type V; MGCA5 ordo_disease|gard_rare ENVO:01001176 environment associated with an aquatic invertebrate biolink:OntologyClass mondo An environment which has its properties and composition largely determined by the presence of a metazoan which lacks a vetebral column and which has a habitat that is found in an aquatic environmental system. http://purl.obolibrary.org/obo/ENVO_01001176 MONDO:0000459 mesenchymal glioblastoma biolink:Disease mondo NCIT:C111695|UMLS:C3829122|DOID:0050805 A molecular subtype of glioblastoma characterized by the presence of NF1 mutations. UMLS:C3829122|DOID:0050805|NCIT:C111695 http://purl.obolibrary.org/obo/MONDO_0000459 glioblastoma mesenchymal subtype|mesenchymal glioblastoma IAO:0000228 term imported biolink:OntologyClass mondo http://purl.obolibrary.org/obo/IAO_0000228 IAO:0000229 term split biolink:OntologyClass mondo http://purl.obolibrary.org/obo/IAO_0000229 UBERON:0035841 esophagogastric junction muscularis propria biolink:AnatomicalEntity mondo muscularis propria from the lowest portion of the esophagus, just proximal to the stomach. http://purl.obolibrary.org/obo/UBERON_0035841 gastro-esophageal junction muscularis propria GO:1905651 regulation of artery morphogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of artery morphogenesis. http://purl.obolibrary.org/obo/GO_1905651 regulation of arterial morphogenesis|regulation of arteriogenesis GO:1905652 negative regulation of artery morphogenesis biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of artery morphogenesis. http://purl.obolibrary.org/obo/GO_1905652 down regulation of artery morphogenesis|downregulation of arterial morphogenesis|inhibition of artery morphogenesis|down-regulation of artery morphogenesis|downregulation of arteriogenesis|down regulation of arterial morphogenesis|inhibition of arterial morphogenesis|negative regulation of arterial morphogenesis|down-regulation of arterial morphogenesis|down regulation of arteriogenesis|inhibition of arteriogenesis|negative regulation of arteriogenesis|down-regulation of arteriogenesis|downregulation of artery morphogenesis HGNC:6511 LARGE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6511 HGNC:6512 LARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6512 UBERON:0011865 corneal stroma collagen fibril biolink:AnatomicalEntity mondo The connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity http://purl.obolibrary.org/obo/UBERON_0011865 UBERON:0011864 tendon collagen fibril biolink:AnatomicalEntity mondo The connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity http://purl.obolibrary.org/obo/UBERON_0011864 UBERON:0008229 craniocervical region musculature biolink:AnatomicalEntity mondo Musculature system of the pharyngeal and head regions. http://purl.obolibrary.org/obo/UBERON_0008229 head or neck muscle|head or neck muscle|head muscles UBERON:0035838 esophagogastric junction mucosa biolink:AnatomicalEntity mondo mucosa from the lowest portion of the esophagus, just proximal to the stomach. http://purl.obolibrary.org/obo/UBERON_0035838 gastro-esophageal junction mucosa UBERON:0035839 esophagogastric junction submucosa biolink:AnatomicalEntity mondo submucosa from the lowest portion of the esophagus, just proximal to the stomach. http://purl.obolibrary.org/obo/UBERON_0035839 gastro-esophageal junction submucosa GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II biolink:OntologyClass mondo The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. http://purl.obolibrary.org/obo/GO_0002504 peptide or polysaccharide antigen processing and presentation of via MHC class II GO:0002507 tolerance induction biolink:OntologyClass mondo A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. http://purl.obolibrary.org/obo/GO_0002507 HGNC:6518 LBR biolink:OntologyClass mondo http://identifiers.org/hgnc/6518 UBERON:0011863 bone collagen fibril biolink:AnatomicalEntity mondo The connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity http://purl.obolibrary.org/obo/UBERON_0011863 UBERON:0011862 pulmonary collagen fibril biolink:AnatomicalEntity mondo The connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity http://purl.obolibrary.org/obo/UBERON_0011862 UBERON:0011861 aorta collagen fibril biolink:AnatomicalEntity mondo The connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity http://purl.obolibrary.org/obo/UBERON_0011861 UBERON:0011860 collection of collagen fibrils biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011860 GO:1905653 positive regulation of artery morphogenesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of artery morphogenesis. http://purl.obolibrary.org/obo/GO_1905653 up regulation of arteriogenesis|up-regulation of arterial morphogenesis|activation of arterial morphogenesis|upregulation of artery morphogenesis|up-regulation of arteriogenesis|activation of arteriogenesis|upregulation of arterial morphogenesis|up regulation of artery morphogenesis|upregulation of arteriogenesis|up-regulation of artery morphogenesis|positive regulation of arterial morphogenesis|activation of artery morphogenesis|up regulation of arterial morphogenesis|positive regulation of arteriogenesis UBERON:0011856 acinus of lactiferous gland biolink:AnatomicalEntity mondo An acinus that is part of a mammary gland. http://purl.obolibrary.org/obo/UBERON_0011856 lactiferous gland acinus UBERON:0035845 enthesis biolink:AnatomicalEntity mondo The connective tissue between tendon and bone insertion sites, which acts to transmit tensile load from soft tissues to bone. They may be of the dense fibrous connective tissue or fibrocartilage type; fibrous entheses attach directly to bone or periosteum primarily via fibrous tissue, and fibrocartilaginous entheses attach to bone through a transitional layer of fibrocartilage from the fibrous tendon tissue the sites where tendons or ligaments insert into the bone. Recurring stress or inflammatory autoimmune disease can cause inflammation or occasionally fibrosis and calcification of the enthesis. http://purl.obolibrary.org/obo/UBERON_0035845 HGNC:6522 LCAT biolink:OntologyClass mondo http://identifiers.org/hgnc/6522 UBERON:0035847 fibrocartilage enthesis biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035847 UBERON:0035846 fibrous enthesis biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035846 HGNC:6524 LCK biolink:OntologyClass mondo http://identifiers.org/hgnc/6524 UBERON:0011859 internal acoustic meatus biolink:AnatomicalEntity mondo The internal auditory meatus (also internal acoustic meatus, internal auditory canal, and internal acoustic canal) is a canal in the petrous bone of the temporal bone of the skull that carries nerves from inside the cranium towards the middle and inner ear compartments namely cranial nerve VII and cranial nerve VIII. http://purl.obolibrary.org/obo/UBERON_0011859 internal auditory canal|porus acusticus internus|internal acoustic meatus|internal acoustic canal|internal auditory meatus UBERON:0011858 acinus of exocrine gland biolink:AnatomicalEntity mondo An acinus that is part of a exocrine gland. http://purl.obolibrary.org/obo/UBERON_0011858 exocrine gland acinus UBERON:0011857 acinus of lacrimal gland biolink:AnatomicalEntity mondo An acinus that is part of a lacrimal gland. http://purl.obolibrary.org/obo/UBERON_0011857 lacrimal gland acinus HGNC:21406 RARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21406 UBERON:0011850 acinus of salivary gland biolink:AnatomicalEntity mondo An acinus that is part of a salivary gland. http://purl.obolibrary.org/obo/UBERON_0011850 salivary gland acinus GO:1903012 positive regulation of bone development biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of bone development. http://purl.obolibrary.org/obo/GO_1903012 up regulation of bone development|up-regulation of bone development|activation of bone development|upregulation of bone development UBERON:0011845 duct of sebaceous gland biolink:AnatomicalEntity mondo A duct that is part of a sebaceous gland. http://purl.obolibrary.org/obo/UBERON_0011845 sebaceous gland duct GO:1903011 negative regulation of bone development biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of bone development. http://purl.obolibrary.org/obo/GO_1903011 downregulation of bone development|down regulation of bone development|inhibition of bone development|down-regulation of bone development GO:1903010 regulation of bone development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of bone development. http://purl.obolibrary.org/obo/GO_1903010 HGNC:6535 LDHA biolink:OntologyClass mondo http://identifiers.org/hgnc/6535 UBERON:0011847 acinus of parotid gland biolink:AnatomicalEntity mondo An acinus that is part of a parotid gland. http://purl.obolibrary.org/obo/UBERON_0011847 parotid gland acinus UBERON:0011846 acinus of sebaceous gland biolink:AnatomicalEntity mondo An acinus that is part of a sebaceous gland. http://purl.obolibrary.org/obo/UBERON_0011846 sebaceous gland acinus GO:0051493 regulation of cytoskeleton organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/GO_0051493 regulation of cytoskeleton organization and biogenesis|regulation of cytoskeleton organisation GO:0051494 negative regulation of cytoskeleton organization biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/GO_0051494 down regulation of cytoskeleton organization|inhibition of cytoskeleton organization|downregulation of cytoskeleton organization|negative regulation of cytoskeleton organisation|negative regulation of cytoskeleton organization and biogenesis|down-regulation of cytoskeleton organization HGNC:6530 LCT biolink:OntologyClass mondo http://identifiers.org/hgnc/6530 UBERON:0008202 bone of hip region biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0008202 GO:0051495 positive regulation of cytoskeleton organization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/GO_0051495 positive regulation of cytoskeleton organisation|up-regulation of cytoskeleton organization|up regulation of cytoskeleton organization|activation of cytoskeleton organization|positive regulation of cytoskeleton organization and biogenesis|stimulation of cytoskeleton organization|upregulation of cytoskeleton organization UBERON:0008203 pelvic cavity biolink:AnatomicalEntity mondo The part of the ventral body cavity that is within the pelvis. http://purl.obolibrary.org/obo/UBERON_0008203 cavitas pelvis|space of pelvic compartment GO:1903019 negative regulation of glycoprotein metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of glycoprotein metabolic process. http://purl.obolibrary.org/obo/GO_1903019 downregulation of glycoprotein metabolic process|down-regulation of glycoprotein metabolism|negative regulation of glycoprotein metabolism|down regulation of glycoprotein metabolic process|down regulation of glycoprotein metabolism|inhibition of glycoprotein metabolic process|down-regulation of glycoprotein metabolic process|downregulation of glycoprotein metabolism|inhibition of glycoprotein metabolism GO:1903018 regulation of glycoprotein metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glycoprotein metabolic process. http://purl.obolibrary.org/obo/GO_1903018 regulation of glycoprotein metabolism HGNC:6545 COG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6545 GO:1903020 positive regulation of glycoprotein metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process. http://purl.obolibrary.org/obo/GO_1903020 upregulation of glycoprotein metabolic process|up-regulation of glycoprotein metabolism|up regulation of glycoprotein metabolism|up regulation of glycoprotein metabolic process|positive regulation of glycoprotein metabolism|activation of glycoprotein metabolism|up-regulation of glycoprotein metabolic process|activation of glycoprotein metabolic process|upregulation of glycoprotein metabolism UBERON:0011831 duct of vestibular gland biolink:AnatomicalEntity mondo A duct that is part of a vestibular gland. http://purl.obolibrary.org/obo/UBERON_0011831 vestibular gland duct HGNC:6547 LDLR biolink:OntologyClass mondo http://identifiers.org/hgnc/6547 HGNC:6541 LDHB biolink:OntologyClass mondo http://identifiers.org/hgnc/6541 GO:1903028 positive regulation of opsonization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of opsonization. http://purl.obolibrary.org/obo/GO_1903028 up-regulation of opsonization|activation of opsonization|upregulation of opsonization|up regulation of opsonization GO:1903027 regulation of opsonization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of opsonization. http://purl.obolibrary.org/obo/GO_1903027 GO:1903026 negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. http://purl.obolibrary.org/obo/GO_1903026 down-regulation of RNA polymerase II regulatory region sequence-specific DNA binding|down regulation of RNA polymerase II regulatory region sequence-specific DNA binding|inhibition of RNA polymerase II regulatory region sequence-specific DNA binding|downregulation of RNA polymerase II regulatory region sequence-specific DNA binding GO:1903025 regulation of RNA polymerase II regulatory region sequence-specific DNA binding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. http://purl.obolibrary.org/obo/GO_1903025 HP:0001804 Hypoplastic fingernail biolink:PhenotypicFeature mondo UMLS:C1856786 Underdevelopment of a fingernail. http://purl.obolibrary.org/obo/HP_0001804 Underdeveloped fingernail|Small fingernail GO:1903034 regulation of response to wounding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of response to wounding. http://purl.obolibrary.org/obo/GO_1903034 regulation of physiological response to wounding HGNC:6554 LEPR biolink:OntologyClass mondo http://identifiers.org/hgnc/6554 HGNC:6556 LETM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6556 UBERON:0008266 periodontal ligament biolink:AnatomicalEntity mondo The fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone. It extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket[BTO]. http://purl.obolibrary.org/obo/UBERON_0008266 peridontium|peridontal fiber|alveolar periosteum|periodontal fiber|peridontal ligament fibre|peridontal ligament|periodontium|fibra periodontalis|desmodontium|alveolodental ligament|peridontal membrane|paradentium|peridontal fibre|alveolodental membrane|peridontal ligament fiber|odontoperiosteum|PDL|periodontal fibre|peridental membrane HGNC:6553 LEP biolink:OntologyClass mondo http://identifiers.org/hgnc/6553 MONDO:0000403 obsolete organ system cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000403 MONDO:0000402 small cell carcinoma biolink:Disease mondo UMLS:C0334239|SCTID:11010461000119101|DOID:0050685|ICDO:8042/3|NCIT:C3915|ICDO:8041/3|EFO:0008524|MESH:D018288 A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early. UMLS:C0334239|SNOMEDCT:11010461000119101|NCIT:C3915|DOID:0050685|MESH:D018288 http://purl.obolibrary.org/obo/MONDO_0000402 intermediate cell small cell carcinoma|small cell carcinoma - intermediate cell|small cell carcinoma|small cell carcinoma, intermediate cell (morphologic abnormality)|small cell NEC|small cell neuroendocrine carcinoma|small cell carcinoma, intermediate cell|small cell cancer|small cell carcinoma (extrapulmonary)|oat cell cancer|small cell car. (extrapulmonary)|oat cell carcinoma MONDO:0000401 obsolete congenital bile acid synthesis defect biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000401 MONDO:0000400 mixed cerebral palsy biolink:Disease mondo UMLS:C0751024|SCTID:702318008|NCIT:C97177|DOID:0050673|ICD9:343.8 A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy. UMLS:C0751024|DOID:0050673|SNOMEDCT:702318008|NCIT:C97177 http://purl.obolibrary.org/obo/MONDO_0000400 GO:1903039 positive regulation of leukocyte cell-cell adhesion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/GO_1903039 positive regulation of leukocyte adhesion|up regulation of leukocyte adhesion|up-regulation of leukocyte cell-cell adhesion|activation of leukocyte cell-cell adhesion|up-regulation of leukocyte cell adhesion|up-regulation of leukocyte adhesion|activation of leukocyte adhesion|up regulation of leukocyte cell adhesion|activation of leukocyte cell adhesion|positive regulation of leukocyte cell adhesion|upregulation of leukocyte cell-cell adhesion|upregulation of leukocyte adhesion|upregulation of leukocyte cell adhesion|up regulation of leukocyte cell-cell adhesion GO:1903038 negative regulation of leukocyte cell-cell adhesion biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/GO_1903038 inhibition of leukocyte cell adhesion|downregulation of leukocyte cell-cell adhesion|downregulation of leukocyte cell adhesion|downregulation of leukocyte adhesion|down regulation of leukocyte cell-cell adhesion|inhibition of leukocyte cell-cell adhesion|down regulation of leukocyte adhesion|down-regulation of leukocyte cell-cell adhesion|inhibition of leukocyte adhesion|down-regulation of leukocyte adhesion|negative regulation of leukocyte adhesion|down-regulation of leukocyte cell adhesion|negative regulation of leukocyte cell adhesion|down regulation of leukocyte cell adhesion GO:1903037 regulation of leukocyte cell-cell adhesion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/GO_1903037 regulation of leukocyte cell adhesion|regulation of leukocyte adhesion GO:1903036 positive regulation of response to wounding biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of response to wounding. http://purl.obolibrary.org/obo/GO_1903036 upregulation of response to wounding|upregulation of physiological response to wounding|positive regulation of physiological response to wounding|up regulation of response to wounding|up regulation of physiological response to wounding|up-regulation of response to wounding|activation of response to wounding|activation of physiological response to wounding|up-regulation of physiological response to wounding GO:1903035 negative regulation of response to wounding biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of response to wounding. http://purl.obolibrary.org/obo/GO_1903035 down regulation of response to wounding|down regulation of physiological response to wounding|inhibition of response to wounding|inhibition of physiological response to wounding|down-regulation of response to wounding|down-regulation of physiological response to wounding|negative regulation of physiological response to wounding|downregulation of response to wounding|downregulation of physiological response to wounding UBERON:0011899 epimysium biolink:AnatomicalEntity mondo Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. http://purl.obolibrary.org/obo/UBERON_0011899 fascia of muscle organ|epimysia UBERON:0035805 muscle layer of sigmoid colon biolink:AnatomicalEntity mondo A muscle layer that is part of the sigmoid colon http://purl.obolibrary.org/obo/UBERON_0035805 sigmoideum muscularis|sigmoid colon muscularis propria|muscularis propria of sigmoid colon|tunica muscularis colon sigmoideum|muscularis externa of sigmoid colon UBERON:0035804 future mouth biolink:AnatomicalEntity mondo The primordial mouth region of the developing head. http://purl.obolibrary.org/obo/UBERON_0035804 primordial mouth|primitive mouth UBERON:0035809 serous cavity biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0035809 HGNC:6560 LFNG biolink:OntologyClass mondo http://identifiers.org/hgnc/6560 HGNC:6562 LGALS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6562 UBERON:0011892 anterior uvea biolink:AnatomicalEntity mondo Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. http://purl.obolibrary.org/obo/UBERON_0011892 ciliary body and iris|tunica vasculosa bulbosa|anterior vascular tunic of the eye|vasculosa oculi|Haller tunica vascula|anterior part of uveal tract|anterior vascular layer of the eyeball|ventral uveal tract|anterior uveal tract GO:1903049 negative regulation of acetylcholine-gated cation channel activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of acetylcholine-gated cation channel activity. http://purl.obolibrary.org/obo/GO_1903049 down-regulation of acetylcholine-gated cation channel activity|down regulation of acetylcholine-gated cation channel activity|inhibition of acetylcholine-gated cation channel activity|downregulation of acetylcholine-gated cation channel activity GO:1903048 regulation of acetylcholine-gated cation channel activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of acetylcholine-gated cation channel activity. http://purl.obolibrary.org/obo/GO_1903048 UBERON:0011894 lumen of vagina biolink:AnatomicalEntity mondo A organ cavity that is part of a vagina. http://purl.obolibrary.org/obo/UBERON_0011894 vaginal lumen GO:1903047 mitotic cell cycle process biolink:OntologyClass mondo A process that is part of the mitotic cell cycle. http://purl.obolibrary.org/obo/GO_1903047 GO:1903046 meiotic cell cycle process biolink:OntologyClass mondo A process that is part of the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_1903046 UBERON:0035820 peritoneal sac biolink:AnatomicalEntity mondo A serous sac that is the aggregate of the peritoneum and the peritoneal cavity, located in the abdominal cavity. http://purl.obolibrary.org/obo/UBERON_0035820 peritoneal component GO:1903055 positive regulation of extracellular matrix organization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of extracellular matrix organization. http://purl.obolibrary.org/obo/GO_1903055 positive regulation of extracellular matrix organization and biogenesis|activation of extracellular matrix organization|up regulation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organisation|upregulation of extracellular matrix organization|up-regulation of extracellular matrix organization and biogenesis|up regulation of extracellular matrix organisation|positive regulation of extracellular matrix organisation|activation of extracellular matrix organisation|up-regulation of extracellular matrix organization|activation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organisation|up regulation of extracellular matrix organization GO:1903054 negative regulation of extracellular matrix organization biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization. http://purl.obolibrary.org/obo/GO_1903054 down regulation of extracellular matrix organisation|inhibition of extracellular matrix organization and biogenesis|down-regulation of extracellular matrix organization|downregulation of extracellular matrix organisation|inhibition of extracellular matrix organisation|downregulation of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organization|down regulation of extracellular matrix organization and biogenesis|downregulation of extracellular matrix organization|inhibition of extracellular matrix organization|down-regulation of extracellular matrix organization and biogenesis|negative regulation of extracellular matrix organization and biogenesis|negative regulation of extracellular matrix organisation|down-regulation of extracellular matrix organisation UBERON:0035814 pericardial fat biolink:AnatomicalEntity mondo The sum of epicardial and paracardial fat deposits. http://purl.obolibrary.org/obo/UBERON_0035814 GO:1903053 regulation of extracellular matrix organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of extracellular matrix organization. http://purl.obolibrary.org/obo/GO_1903053 regulation of extracellular matrix organisation|regulation of extracellular matrix organization and biogenesis UBERON:0035815 paracardial fat biolink:AnatomicalEntity mondo Fat deposits in the mediastinum outside the parietal pericardium . http://purl.obolibrary.org/obo/UBERON_0035815 intrathoracic fat UBERON:0035818 visceral fat biolink:AnatomicalEntity mondo Any fat deposit surrounding a visceral organ. http://purl.obolibrary.org/obo/UBERON_0035818 UBERON:0035819 abdominopelvic cavity biolink:AnatomicalEntity mondo The part of the ventral body cavity that is within the abdominal segment of the trunk, which encompasses the abdomen proper plus pelvic cavity. http://purl.obolibrary.org/obo/UBERON_0035819 cavitas abdominis et pelvis UBERON:0008242 lower back muscle biolink:AnatomicalEntity mondo A muscle of back that is part of a lower back. http://purl.obolibrary.org/obo/UBERON_0008242 UBERON:0008243 upper back muscle biolink:AnatomicalEntity mondo A muscle of back that is part of a dorsal thoracic segment of trunk. http://purl.obolibrary.org/obo/UBERON_0008243 HGNC:6572 LGI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/6572 OBO:cl#has_low_plasma_membrane_amount has_low_plasma_membrane_amount biolink:OntologyClass mondo A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount NCBITaxon:4564 Triticum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_4564 GO:1903059 regulation of protein lipidation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein lipidation. http://purl.obolibrary.org/obo/GO_1903059 regulation of protein amino acid lipidation|regulation of lipid:protein modification UBERON:0035831 costal diaphragm biolink:AnatomicalEntity mondo The domain of the diaphragm that is a thin domed sheet of muscle composed of a radial array of myofibers extending laterally from the ribs and medially to a central tendon. http://purl.obolibrary.org/obo/UBERON_0035831 pars costalis diaphragmatis|costal part of diaphragm UBERON:0011878 muscle layer of esophagus biolink:AnatomicalEntity mondo A muscle layer that is part of a wall of esophagus. http://purl.obolibrary.org/obo/UBERON_0011878 tela muscularis (oesophagus)|tunica muscularis esophagi|tunica muscularis oesophageae|muscular layer of oesophagus|muscular coat of oesophagus|muscle coat of esophagus UBERON:0011877 margin of tongue biolink:AnatomicalEntity mondo The lateral border that separates the dorsum from the inferior surface of the tongue on each side, the two borders meeting anteriorly at the apex.. http://purl.obolibrary.org/obo/UBERON_0011877 tongue margin|margo linguae UBERON:0035825 left adrenal gland cortex biolink:AnatomicalEntity mondo the thick outer layer of the adrenal gland that is in the left side of the abdomen http://purl.obolibrary.org/obo/UBERON_0035825 cortex of left suprarenal gland|left adrenal cortex|cortex of left adrenal gland UBERON:0035827 right adrenal gland cortex biolink:AnatomicalEntity mondo the thick outer layer of the adrenal gland that is in the right side of the abdomen http://purl.obolibrary.org/obo/UBERON_0035827 right adrenal cortex|cortex of right suprarenal gland|cortex of right adrenal gland UBERON:0035826 left adrenal gland medulla biolink:AnatomicalEntity mondo the adrenal gland medulla that is in the left side of the abdomen http://purl.obolibrary.org/obo/UBERON_0035826 medulla of left suprarenal gland|left adrenal medulla|medulla of left adrenal gland GO:1903061 positive regulation of protein lipidation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein lipidation. http://purl.obolibrary.org/obo/GO_1903061 positive regulation of lipid:protein modification|upregulation of protein amino acid lipidation|up regulation of lipid:protein modification|up regulation of protein lipidation|up-regulation of lipid:protein modification|activation of lipid:protein modification|activation of protein lipidation|up-regulation of protein lipidation|up-regulation of protein amino acid lipidation|upregulation of lipid:protein modification|up regulation of protein amino acid lipidation|activation of protein amino acid lipidation|upregulation of protein lipidation|positive regulation of protein amino acid lipidation GO:1903060 negative regulation of protein lipidation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of protein lipidation. http://purl.obolibrary.org/obo/GO_1903060 negative regulation of protein amino acid lipidation|down-regulation of protein amino acid lipidation|down regulation of protein amino acid lipidation|downregulation of lipid:protein modification|downregulation of protein lipidation|inhibition of protein amino acid lipidation|downregulation of protein amino acid lipidation|down regulation of lipid:protein modification|down regulation of protein lipidation|inhibition of lipid:protein modification|inhibition of protein lipidation|negative regulation of lipid:protein modification|down-regulation of lipid:protein modification|down-regulation of protein lipidation UBERON:0035828 right adrenal gland medulla biolink:AnatomicalEntity mondo the adrenal gland medulla that is in the right side of the abdomen http://purl.obolibrary.org/obo/UBERON_0035828 medulla of right suprarenal gland|medulla of right adrenal gland|right adrenal medulla IAO:0000226 placeholder removed biolink:OntologyClass mondo http://purl.obolibrary.org/obo/IAO_0000226 UBERON:0008230 tibialis biolink:AnatomicalEntity mondo Either of two muscles of the calf of the leg. http://purl.obolibrary.org/obo/UBERON_0008230 tibialis muscle IAO:0000227 terms merged biolink:OntologyClass mondo http://purl.obolibrary.org/obo/IAO_0000227 IAO:0000224 obsolete_core biolink:OntologyClass mondo Core is an instance of a grouping of terms from an ontology or ontologies. It is used by the ontology to identify main classes. http://purl.obolibrary.org/obo/IAO_0000224 UBERON:0008231 dorsal thoracic segment of trunk biolink:AnatomicalEntity mondo Subdivision of thorax, which in humans is the posterior part of the thorax and is demarcated from the chest by the external surface of the posterolateral part of the rib cage and the anterior surface of the thoracic vertebral column; together with the chest, it constitutes the thorax. http://purl.obolibrary.org/obo/UBERON_0008231 thoracic part of back|posterior part of thorax|dorsum of thorax|back of thorax|upper back|thoracic back IAO:0000225 obsolescence reason specification biolink:OntologyClass mondo The reason for which a term has been deprecated. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. http://purl.obolibrary.org/obo/IAO_0000225 HGNC:6584 LHB biolink:OntologyClass mondo http://identifiers.org/hgnc/6584 HGNC:6585 LHCGR biolink:OntologyClass mondo http://identifiers.org/hgnc/6585 GO:0002465 peripheral tolerance induction biolink:OntologyClass mondo Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. http://purl.obolibrary.org/obo/GO_0002465 GO:0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biolink:OntologyClass mondo An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. http://purl.obolibrary.org/obo/GO_0002460 GO:0002461 tolerance induction dependent upon immune response biolink:OntologyClass mondo Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. http://purl.obolibrary.org/obo/GO_0002461 immune response-dependent tolerance induction GO:0002445 type II hypersensitivity biolink:OntologyClass mondo An inflammatory response resulting in cell death or dysfunction mediated by activation of the classical complement pathway or induction of effector cell phagocytosis, cytolysis mechanisms via complement or Fc receptors following the binding of antibodies to cell surface antigens on a target cell, or mediated by the direct binding of antibody to cellular receptors. http://purl.obolibrary.org/obo/GO_0002445 GO:0002441 histamine secretion involved in inflammatory response biolink:OntologyClass mondo The regulated release of histamine by a cell as part of an inflammatory response. http://purl.obolibrary.org/obo/GO_0002441 histamine secretion involved in acute inflammatory response GO:0002442 serotonin secretion involved in inflammatory response biolink:OntologyClass mondo The regulated release of serotonin by a cell as part of an inflammatory response. http://purl.obolibrary.org/obo/GO_0002442 serotonin release involved in inflammatory response|serotonin secretion involved in acute inflammatory response GO:0002443 leukocyte mediated immunity biolink:OntologyClass mondo Any process involved in the carrying out of an immune response by a leukocyte. http://purl.obolibrary.org/obo/GO_0002443 leucocyte immune effector process|leucocyte mediated immunity|immune cell mediated immunity|leukocyte immune effector process|immune cell effector process|cellular immune response|cell-mediated immune response GO:0002444 myeloid leukocyte mediated immunity biolink:OntologyClass mondo Any process involved in the carrying out of an immune response by a myeloid leukocyte. http://purl.obolibrary.org/obo/GO_0002444 myeloid leukocyte immune effector process|myeloid leucocyte immune effector process|myeloid leucocyte mediated immunity GO:0002440 production of molecular mediator of immune response biolink:OntologyClass mondo The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0002440 production of cellular mediator of immune response GO:0002449 lymphocyte mediated immunity biolink:OntologyClass mondo Any process involved in the carrying out of an immune response by a lymphocyte. http://purl.obolibrary.org/obo/GO_0002449 cellular immune response|cell-mediated immunity GO:0002456 T cell mediated immunity biolink:OntologyClass mondo Any process involved in the carrying out of an immune response by a T cell. http://purl.obolibrary.org/obo/GO_0002456 cellular immune response|T-cell mediated immunity|cell-mediated immunity|T lymphocyte mediated immunity|T-lymphocyte mediated immunity UBERON:0008307 heart endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0008307 cardiac endothelium GO:0002429 immune response-activating cell surface receptor signaling pathway biolink:OntologyClass mondo A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of a cell capable of activating or perpetuating an immune response. http://purl.obolibrary.org/obo/GO_0002429 immune response-activating cell surface receptor signalling pathway|activation of immune response by cell surface receptor signaling pathway GO:0051445 regulation of meiotic cell cycle biolink:OntologyClass mondo Any process that modulates the rate or extent of progression through the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0051445 regulation of progression through meiotic cell cycle|modulation of meiotic cell cycle progression|regulation of meiotic cell cycle progression|meiotic cell cycle regulator|meiotic cell cycle modulation|meiotic cell cycle regulation GO:0051446 positive regulation of meiotic cell cycle biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of progression through the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0051446 up regulation of progression through meiotic cell cycle|stimulation of progression through meiotic cell cycle|positive regulation of meiotic cell cycle progression|up-regulation of progression through meiotic cell cycle|activation of progression through meiotic cell cycle|upregulation of progression through meiotic cell cycle|positive regulation of progression through meiotic cell cycle GO:0002437 inflammatory response to antigenic stimulus biolink:OntologyClass mondo An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. http://purl.obolibrary.org/obo/GO_0002437 GO:0002430 complement receptor mediated signaling pathway biolink:OntologyClass mondo A series of molecular signals generated as a consequence of a component of the complement pathway binding to a complement receptor. Such components include both whole complement proteins and fragments of complement proteins generated through the activity of the complement pathway. http://purl.obolibrary.org/obo/GO_0002430 complement receptor mediated signalling pathway|immune response-regulating cell surface receptor signalling pathway GO:0051447 negative regulation of meiotic cell cycle biolink:OntologyClass mondo Any process that stops, prevents or reduces the rate or extent of progression through the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0051447 negative regulation of meiotic cell cycle progression|downregulation of progression through meiotic cell cycle|down regulation of progression through meiotic cell cycle|inhibition of progression through meiotic cell cycle|negative regulation of progression through meiotic cell cycle|down-regulation of progression through meiotic cell cycle GO:0002433 immune response-regulating cell surface receptor signaling pathway involved in phagocytosis biolink:OntologyClass mondo An immune response-regulating cell surface receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. http://purl.obolibrary.org/obo/GO_0002433 phagocytosis triggered by activation of immune response cell surface activating receptor|immune response-regulating cell surface receptor signalling pathway involved in phagocytosis GO:2000677 regulation of transcription regulatory region DNA binding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of transcription regulatory region DNA binding. http://purl.obolibrary.org/obo/GO_2000677 GO:2000678 negative regulation of transcription regulatory region DNA binding biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding. http://purl.obolibrary.org/obo/GO_2000678 GO:2000679 positive regulation of transcription regulatory region DNA binding biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding. http://purl.obolibrary.org/obo/GO_2000679 UBERON:0011932 pilosebaceous unit biolink:AnatomicalEntity mondo An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle http://purl.obolibrary.org/obo/UBERON_0011932 pilo-sebaceous unit|pilosebaceous apparatus|fabrica pilosebacea|pilosebaceous gland|pilo-sebaceous apparatus UBERON:0011931 nasal hair biolink:AnatomicalEntity mondo Hair in the nose http://purl.obolibrary.org/obo/UBERON_0011931 hair of vestibular part of nose|nose hair|hair of nose UBERON:0011930 preganglionic parasympathetic fiber biolink:AnatomicalEntity mondo A cholinergic axonal fibers projecting from the CNS to a parasympathetic ganglion http://purl.obolibrary.org/obo/UBERON_0011930 parasympathetic preganglionic fiber GO:0002438 acute inflammatory response to antigenic stimulus biolink:OntologyClass mondo An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/GO_0002438 GO:0051458 corticotropin secretion biolink:OntologyClass mondo The regulated release of corticotropin by a cell. Corticotropin hormone is a polypeptide hormone synthesized and secreted from corticotropes in the anterior lobe of the pituitary gland in response to corticotropin-releasing hormone (CRH) released by the hypothalamus. http://purl.obolibrary.org/obo/GO_0051458 ACTH secretion|corticotropic hormone secretion|adrenotropic hormone secretion|adrenocorticotropin secretion|adrenocorticotropic hormone secretion|adrenotropin secretion GO:0051459 regulation of corticotropin secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of corticotropic hormone from a cell. http://purl.obolibrary.org/obo/GO_0051459 regulation of adrenotropin hormone secretion|regulation of corticotropic hormone secretion|regulation of adrenocorticotropin secretion|regulation of adrenotropin secretion|regulation of adrenocorticotropic hormone secretion|regulation of ACTH secretion UBERON:0011921 connecting stalk blood islands biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0011921 blood island of umbilical vesicle|insula sanguinea vesiculae umbilicalis UBERON:0011925 preganglionic autonomic fiber biolink:AnatomicalEntity mondo Nerve fibers which project from the central nervous system to autonomic ganglia. In the sympathetic division most preganglionic fibers originate with neurons in the intermediolateral column of the spinal cord, exit via ventral roots from upper thoracic through lower lumbar segments, and project to the paravertebral ganglia; there they either terminate in synapses or continue through the splanchnic nerves to the prevertebral ganglia. In the parasympathetic division the fibers originate in neurons of the brain stem and sacral spinal cord. In both divisions the principal transmitter is acetylcholine but peptide cotransmitters may also be released. http://purl.obolibrary.org/obo/UBERON_0011925 preganglionic nerve fiber|preganglionic autonomic fibre UBERON:0011927 preganglionic sympathetic fiber biolink:AnatomicalEntity mondo A cholinergic axonal fiber projecting from the CNS to a sympathetic ganglion http://purl.obolibrary.org/obo/UBERON_0011927 sympathetic preganglionic fiber CHEBI:16393 sphingosine biolink:ChemicalSubstance mondo A sphing-4-enine in which the double bond is trans. http://purl.obolibrary.org/obo/CHEBI_16393 trans-4-sphingenine|(2S,3R,E)-2-aminooctadec-4-ene-1,3-diol|Sphingenine|sphingosin|C18 sphingosine|(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-ene-1-ol|D-erythro-sphingosine|Sph|(2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene|(E)-2-amino-4-octadecan-1,3-diol|D-(+)-erythro-1,3-dihydroxy-2-amino-4-trans-octadecene|Sphingosine|Sphing-4-enine|trans-D-erythro-2-amino-4-octadecene-1,3-diol|Sphingosine d18:1|(2S,3R,4E)-2-amino-4-octadecene-1,3-diol|2-amino-4-octadecene-1,3-diol|(E)-D-erythro-4-octadecene-1,3-diol|(2S,3R,4E)-2-aminooctadec-4-ene-1,3-diol|(4E)-sphing-4-enine|Sphingoid|(4E)-sphingenine HGNC:6501 LAMP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/6501 HGNC:6502 RPSA biolink:OntologyClass mondo http://identifiers.org/hgnc/6502 GO:1905636 positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. http://purl.obolibrary.org/obo/GO_1905636 up regulation of RNA polymerase II regulatory region sequence-specific DNA binding|activation of RNA polymerase II regulatory region sequence-specific DNA binding|upregulation of RNA polymerase II regulatory region sequence-specific DNA binding|up-regulation of RNA polymerase II regulatory region sequence-specific DNA binding UBERON:0011919 yolk sac blood island biolink:AnatomicalEntity mondo masses of developing blood cells attached to endothelium in the yolk sac http://purl.obolibrary.org/obo/UBERON_0011919 yolk sac blood islands|visceral yolk sac blood island GO:0051460 negative regulation of corticotropin secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of corticotropic hormone from a cell. http://purl.obolibrary.org/obo/GO_0051460 negative regulation of adrenotropic hormone secretion|inhibition of adrenocorticotropin secretion|downregulation of adrenocorticotropin secretion|negative regulation of adrenocorticotropic hormone secretion|negative regulation of adrenotropin secretion|negative regulation of corticotropic hormone secretion|negative regulation of adrenocorticotropin secretion|down-regulation of adrenocorticotropin secretion|negative regulation of ACTH secretion|down regulation of adrenocorticotropin secretion GO:0051463 negative regulation of cortisol secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell. http://purl.obolibrary.org/obo/GO_0051463 down-regulation of cortisol secretion|downregulation of cortisol secretion|down regulation of cortisol secretion|inhibition of cortisol secretion GO:0051464 positive regulation of cortisol secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell. http://purl.obolibrary.org/obo/GO_0051464 upregulation of cortisol secretion|stimulation of cortisol secretion|up regulation of cortisol secretion|activation of cortisol secretion|up-regulation of cortisol secretion GO:0051461 positive regulation of corticotropin secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of corticotropin hormone from a cell. http://purl.obolibrary.org/obo/GO_0051461 positive regulation of ACTH secretion|up-regulation of adrenocorticotropin secretion|positive regulation of adrenotropic hormone secretion|up regulation of adrenocorticotropin secretion|activation of adrenocorticotropin secretion|positive regulation of corticotropic hormone secretion|positive regulation of adrenocorticotropin secretion|stimulation of adrenocorticotropin secretion|upregulation of adrenocorticotropin secretion|positive regulation of adrenotropin secretion|positive regulation of adrenocorticotropic hormone secretion GO:0051462 regulation of cortisol secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell. http://purl.obolibrary.org/obo/GO_0051462 MONDO:0024487 nail infection biolink:Disease mondo UMLS:C0343026|NCIT:C78493 An infectious process affecting the nail. NCIT:C78493|UMLS:C0343026 http://purl.obolibrary.org/obo/MONDO_0024487 nail infection MONDO:0024486 obsolete familial chronic mucocutaneous candidiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024486 MONDO:0024489 general tumor grading characteristic biolink:Disease mondo NCIT:C28076 A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. NCIT:C28076 http://purl.obolibrary.org/obo/MONDO_0024489 disease grade qualifier MONDO:0024488 tumor grading characteristic biolink:Disease mondo A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread http://purl.obolibrary.org/obo/MONDO_0024488 ENVO:01001125 ice biolink:OntologyClass mondo An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure. http://purl.obolibrary.org/obo/ENVO_01001125 HP:0011138 Abnormality of skin adnexa morphology biolink:PhenotypicFeature mondo UMLS:C4023518 An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. http://purl.obolibrary.org/obo/HP_0011138 Abnormal skin appendage MONDO:0024481 skin appendage disease biolink:Disease mondo SCTID:238714008|UMLS:C0037272 A disease that involves the cutaneous appendage. SNOMEDCT:238714008|UMLS:C0037272 http://purl.obolibrary.org/obo/MONDO_0024481 disease of cutaneous appendage|disorder of cutaneous appendage|disease of epidermal appendage|disorder of cutaneous appendage|disorder of skin appendage|cutaneous appendage disease|disease or disorder of cutaneous appendage|disease of epidermal appendages|cutaneous appendage disease or disorder MONDO:0024480 dermatosis of eyelid biolink:Disease mondo UMLS:C1274150|SCTID:402700001 SNOMEDCT:402700001|UMLS:C1274150 http://purl.obolibrary.org/obo/MONDO_0024480 dermatosis of eyelid MONDO:0024483 urothelial hyperplasia biolink:Disease mondo NCIT:C27877 Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003 NCIT:C27877 http://purl.obolibrary.org/obo/MONDO_0024483 urothelial hyperplasia|urothelium hyperplasia MONDO:0024482 eccrine sweat gland hamartoma biolink:Disease mondo NCIT:C5564|UMLS:C1333372 A hamartoma characterized by localized eccrine sweat gland malformation. UMLS:C1333372|NCIT:C5564 http://purl.obolibrary.org/obo/MONDO_0024482 eccrine sweat gland hamartoma (disease)|eccrine sweat gland hamartoma|hamartoma of the eccrine sweat gland|hamartoma of eccrine sweat gland MONDO:0024485 papillary urothelial hyperplasia biolink:Disease mondo NCIT:C27879 A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003 NCIT:C27879 http://purl.obolibrary.org/obo/MONDO_0024485 papillary urothelial hyperplasia ENVO:01001122 gas planet biolink:OntologyClass mondo A planet which is primarily composed of hydrogen and helium. http://purl.obolibrary.org/obo/ENVO_01001122 MONDO:0024476 epithelial neoplasm of rectum biolink:Disease mondo A epithelial neoplasm that involves the rectum. http://purl.obolibrary.org/obo/MONDO_0024476 rectum epithelial neoplasm|rectal epithelial tumor|rectal epithelial neoplasm HP:0011121 Abnormality of skin morphology biolink:PhenotypicFeature mondo Fyler:4133|UMLS:C4023528 Any morphological abnormality of the skin. http://purl.obolibrary.org/obo/HP_0011121 Abnormal skin structure|Abnormal skin morphology MONDO:0024475 squamous cell intraepithelial neoplasia biolink:Disease mondo NCIT:C8334 NCIT:C8334 http://purl.obolibrary.org/obo/MONDO_0024475 squamous intraepithelial lesion|sil|squamous cell intraepithelial neoplasia|SIN MONDO:0024478 mesenchymal hamartoma biolink:Disease mondo UMLS:C0334090|NCIT:C40427 UMLS:C0334090|NCIT:C40427 http://purl.obolibrary.org/obo/MONDO_0024478 mesenchymal hamartoma HP:0011122 Abnormality of skin physiology biolink:PhenotypicFeature mondo UMLS:C4023527 Any abnormality of the physiological function of the skin. http://purl.obolibrary.org/obo/HP_0011122 Abnormality of skin physiology MONDO:0024477 liver and intrahepatic bile duct neoplasm biolink:Disease mondo UMLS:C1333976|NCIT:C7103 A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma. UMLS:C1333976|NCIT:C7103 http://purl.obolibrary.org/obo/MONDO_0024477 hepatic and intrahepatic bile duct neoplasm|liver and intrahepatic bile duct neoplasm HP:0011123 Inflammatory abnormality of the skin biolink:PhenotypicFeature mondo MP:0004947|UMLS:C0011603|SNOMEDCT_US:703938007|MSH:D003872|UMLS:C3875321 The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. http://purl.obolibrary.org/obo/HP_0011123 Dermatitis|Inflammatory abnormality of the skin|Skin inflammation|Abnormal tendency to infections of the skin|Inflammatory skin disease MONDO:0024479 epithelial tumor of colon biolink:Disease mondo A epithelial neoplasm that involves the colon. http://purl.obolibrary.org/obo/MONDO_0024479 colon epithelial neoplasm MONDO:0024470 benign chondrogenic neoplasm biolink:Disease mondo UMLS:C0852519|SCTID:722690001|NCIT:C8592 A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma. NCIT:C8592|UMLS:C0852519|SNOMEDCT:722690001 http://purl.obolibrary.org/obo/MONDO_0024470 chondrogenic neoplasm, benign|benign cartilaginous neoplasm|benign cartilaginous tumor|benign neoplasm of the cartilage|benign neoplasm of cartilage|benign tumor of the cartilage|benign chondrogenic neoplasm|benign tumor of cartilage|benign chondrogenic tumor MONDO:0024472 boutonneuse fever biolink:Disease mondo ICD10:A77.1|SCTID:186774005|Orphanet:83313|MESH:D001907|Orphanet:101334|DOID:14095|ICD9:082.1|MedDRA:10006045|UMLS:C0006060|EFO:0007179 An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii. MEDDRA:10006045|DOID:14095|MESH:D001907|SNOMEDCT:186774005|UMLS:C0006060|ORPHA:83313|ORPHA:101334 http://purl.obolibrary.org/obo/MONDO_0024472 boutonneuse disease|Kenya fever|Kenyan tick typhus|fievre boutonneuse|Conor and Bruch's disease|marseilles fever|boutonneuse fever|Kenya tick typhus|Mediterranean tick fever|Mediterranean spotted fever|Rickettsia conorii spotted fever|South African tick-bite fever|tick typhus due to rickettsia conorii|African tick typhus ordo_disease|ordo_etiological_subtype MONDO:0024471 non-inflammatory vasculopathy biolink:Disease mondo Orphanet:496924 ORPHA:496924 http://purl.obolibrary.org/obo/MONDO_0024471 ordo_group_of_disorders MONDO:0024474 intraepithelial neoplasia biolink:Disease mondo NCIT:C8366 A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia). NCIT:C8366 http://purl.obolibrary.org/obo/MONDO_0024474 intraepithelial neoplasia|epithelial dysplasia|intraepithelial neoplasm MONDO:0024473 Astrakhan spotted fever biolink:Disease mondo DOID:0050041 An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia. DOID:0050041 http://purl.obolibrary.org/obo/MONDO_0024473 MONDO:0012498 congenital stationary night blindness autosomal dominant 1 biolink:Disease mondo OMIM:610445|MESH:C566474|UMLS:C1864869|DOID:0110862 Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene. UMLS:C1864869|MESH:C566474|http://identifiers.org/omim/610445|DOID:0110862 http://purl.obolibrary.org/obo/MONDO_0012498 night blindness, congenital stationary, autosomal dominant type 1|RHO congenital stationary night blindness|congenital stationary night blindness caused by mutation in RHO|night blindness, congenital stationary, rhodopsin-related|rhodopsin-related congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant 1|CSNBAD1|congenital stationary night blindness autosomal dominant type 1|night blindness, congenital stationary, autosomal dominant 1; CSNBAD1 MONDO:0012499 Buruli ulcer, susceptibility to biolink:Disease mondo GARD:0009520|OMIM:610446 http://identifiers.org/omim/610446 http://purl.obolibrary.org/obo/MONDO_0012499 Buruli ulcer, susceptibility to|BUD|Mycobacterium ulcerans, susceptibility to predisposition MONDO:0012496 Koolen de Vries syndrome biolink:Disease mondo OMIM:610443|ICD10:Q93.5|GARD:0010727|UMLS:C1864871|UMLS:CN776874|Orphanet:96169|DOID:0070076|DOID:0050880|SCTID:717338006 Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior. DOID:0070076|SNOMEDCT:717338006|UMLS:C1864871|DOID:0050880|ORPHA:96169|http://identifiers.org/omim/610443|UMLS:CN776874 http://purl.obolibrary.org/obo/MONDO_0012496 KANSL1-related intellectual disability syndrome|microdeletion 17Q21.31 syndrome|chromosome 17Q21.31 deletion syndrome|Koolen-DE Vries syndrome; KDVS|Koolen-De Vries syndrome|17q21.31 deletion syndrome|chromosome 17q21.31 microdeletion syndrome|Koolen-DE Vries syndrome|microdeletion 17q21.31 syndrome|KdVS|17q21.31 microdeletion syndrome|KDVS|chromosome 17q21.31 deletion syndrome ordo_malformation_syndrome MONDO:0012497 congenital stationary night blindness autosomal dominant 3 biolink:Disease mondo OMIM:610444|UMLS:C1864870|DOID:0110715|MESH:C566475 A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21. UMLS:C1864870|MESH:C566475|http://identifiers.org/omim/610444|DOID:0110715 http://purl.obolibrary.org/obo/MONDO_0012497 CSNBAD3|congenital stationary night blindness autosomal dominant type 3|Nougaret type congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant 3|night blindness, congenital stationary, Nougaret type|night blindness, congenital stationary, autosomal dominant type 3|night blindness, congenital stationary, autosomal dominant 3; CSNBAD3 MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive biolink:Disease mondo OMIM:610427|UMLS:C1864877 UMLS:C1864877|http://identifiers.org/omim/610427 http://purl.obolibrary.org/obo/MONDO_0012490 night blindness, congenital stationary, incomplete, autosomal recessive, formerly|night blindness, congenital stationary, incomplete, autosomal recessive|cone-rod synaptic disorder, congenital nonprogressive|CRSD|night blindness, congenital stationary, type 2B, formerly|night blindness, congenital stationary, type 2B|cone-rod synaptic disorder, congenital nonprogressive; CRSD ENVO:01001110 ecosystem biolink:OntologyClass mondo An environmental system which includes both living and non-living components. http://purl.obolibrary.org/obo/ENVO_01001110 MONDO:0012491 WM2 biolink:Disease mondo OMIM:610430 http://identifiers.org/omim/610430 http://purl.obolibrary.org/obo/MONDO_0012491 WM2|macroglobulinemia, WALDENSTROM, susceptibility to, 2|macroglobulinemia, WALDENSTROM, susceptibility to, 2; WM2 predisposition MONDO:0036482 retinitis pigmentosa 81 biolink:Disease mondo DOID:0080292|OMIM:617871|UMLS:CN802781 DOID:0080292|UMLS:CN802781|http://identifiers.org/omim/617871 http://purl.obolibrary.org/obo/MONDO_0036482 retinitis pigmentosa 81; RP81|RP81 MONDO:0012494 testicular microlithiasis (disease) biolink:Disease mondo MESH:C566478|OMIM:610441|HP:0012215|UMLS:C1864873 UMLS:C1864873|MESH:C566478|http://identifiers.org/omim/610441 http://purl.obolibrary.org/obo/MONDO_0012494 testicular microlithiasis MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly biolink:Disease mondo OMIM:617866|UMLS:CN795020|DOID:0080293 DOID:0080293|UMLS:CN795020|http://identifiers.org/omim/617866 http://purl.obolibrary.org/obo/MONDO_0036483 SRTD18|short-rib thoracic dysplasia 18 with polydactyly; SRTD18 MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G biolink:Disease mondo UMLS:CN847583|DOID:0080294|OMIM:617882 UMLS:CN847583|DOID:0080294|http://identifiers.org/omim/617882 http://purl.obolibrary.org/obo/MONDO_0036484 Charcot-Marie-Tooth disease, dominant intermediate G; CMTDIG|Charcot-Marie-Tooth disease dominant intermediate G|CMTDIG MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type biolink:Disease mondo Orphanet:168454|UMLS:C1864872|OMIM:610442|MESH:C535785|ICD10:Q77.7|GARD:0010057 Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. UMLS:C1864872|http://identifiers.org/omim/610442|MESH:C535785|ORPHA:168454 http://purl.obolibrary.org/obo/MONDO_0012495 SEMD, Geneviève type|spondyloepimetaphyseal dysplasia Genevieve type|SEMD, Genevieve type|SEMD Genevieve type|spondyloepimetaphyseal dysplasia, Genevieve type|spondyloepimetaphyseal dysplasia, Genevieve type; SEMDG|spondyloepimetaphyseal dysplasia, Geneviève type|SEMDG|Nans deficiency ordo_disease MONDO:0012492 restless legs syndrome, susceptibility to, 3 biolink:Disease mondo OMIM:610438|GARD:0010270 http://identifiers.org/omim/610438 http://purl.obolibrary.org/obo/MONDO_0012492 restless legs syndrome, susceptibility to, 3|RLS3|restless legs syndrome, susceptibility to, 3; RLS3 predisposition MONDO:0012493 restless legs syndrome, susceptibility to, 4 biolink:Disease mondo OMIM:610439|GARD:0010271 http://identifiers.org/omim/610439 http://purl.obolibrary.org/obo/MONDO_0012493 RLS4|restless legs syndrome, susceptibility to, 4|restless legs syndrome, susceptibility to, 4; RLS4|RLS 4 predisposition MONDO:0000498 arteritic anterior ischemic optic neuropathy biolink:Disease mondo UMLS:C2242711|SCTID:733506009|DOID:0050863 An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis) SNOMEDCT:733506009|UMLS:C2242711|DOID:0050863 http://purl.obolibrary.org/obo/MONDO_0000498 arteritic aion MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 biolink:Disease mondo OMIM:610913 http://identifiers.org/omim/610913 http://purl.obolibrary.org/obo/MONDO_0024465 surfactant metabolism dysfunction, pulmonary, 2; SMDP2|desquamative interstitial pneumonitis due to surfactant Protein C deficiency|SMDP2|pulmonary alveolar proteinosis, congenital, 2|interstitial lung disease due to surfactant Protein C deficiency HP:0011110 Tonsillitis biolink:PhenotypicFeature mondo UMLS:C0040425|MSH:D014069|SNOMEDCT_US:90176007 An inflammation of the tonsils. http://purl.obolibrary.org/obo/HP_0011110 Inflammation of tonsils MONDO:0024464 pituitary hormone deficiency, combined, 1 biolink:Disease mondo UMLS:C2751608|MESH:C567803|GARD:0010601|OMIM:613038 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene. UMLS:C2751608|http://identifiers.org/omim/613038|MESH:C567803 http://purl.obolibrary.org/obo/MONDO_0024464 CPHD1|combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1|pituitary hormone deficiency, combined 1|pituitary hormone deficiency, combined, 1; CPHD1|POU1F1 combined pituitary hormone deficiencies, genetic form MONDO:0000497 pyometritis biolink:Disease mondo SCTID:88981003|UMLS:C0034215|MESH:D055112|DOID:0050862|NCIT:C121207|UMLS:C0686163 Inflammation of uterine musculature associated with pus in the uterine cavity. UMLS:C0034215|SNOMEDCT:88981003|NCIT:C121207|MESH:D055112|UMLS:C0686163|DOID:0050862 http://purl.obolibrary.org/obo/MONDO_0000497 myometrium inflammation|pyometra|inflammation of myometrium MONDO:0024467 apocrine sweat gland disease biolink:Disease mondo ICD10:L75 A disease that involves the apocrine sweat gland. http://purl.obolibrary.org/obo/MONDO_0024467 disease of apocrine sweat gland|disease or disorder of apocrine sweat gland|disorder of apocrine sweat gland|apocrine sweat gland disease|apocrine sweat gland disease or disorder|disorder of apocrine sweat gland MONDO:0000496 hemorrhagic cystitis biolink:Disease mondo UMLS:C0085692|DOID:0050859|SCTID:87696004|NCIT:C114666 Inflammation of the bladder resulting in bloody urine. UMLS:C0085692|SNOMEDCT:87696004|DOID:0050859|NCIT:C114666 http://purl.obolibrary.org/obo/MONDO_0000496 MONDO:0024466 facial paresis, hereditary congenital, 1 biolink:Disease mondo OMIM:601471|UMLS:C1832284 http://identifiers.org/omim/601471|UMLS:C1832284 http://purl.obolibrary.org/obo/MONDO_0024466 Mobius syndrome 2, formerly|Moebius syndrome 2, formerly|Mobius syndrome 2|Moebius syndrome 2|HCFP1|facial palsy, congenital, unilateral or bilateral|facial paresis, hereditary congenital, 1; HCFP1 MONDO:0000495 oppositional defiant disorder (disease) biolink:Disease mondo HP:0010865|SCTID:18941000|MESH:D019958|DOID:0050856|COHD:441547|ICD9:313.81|NCIT:C92565 A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors. MESH:D019958|SNOMEDCT:18941000|NCIT:C92565|DOID:0050856 http://purl.obolibrary.org/obo/MONDO_0000495 oppositional defiant disorder MONDO:0024469 chondrogenic neoplasm biolink:Disease mondo UMLS:C0476147|NCIT:C4755 A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma. NCIT:C4755|UMLS:C0476147 http://purl.obolibrary.org/obo/MONDO_0024469 tumor of the cartilage|tumor of cartilage|cartilaginous tumor|chondromatous neoplasm|neoplasm of the cartilage|chondrogenic tumor|neoplasm of cartilage|chondrogenic neoplasm|chondromatous tumor|cartilaginous neoplasm ENVO:01001147 helium planet biolink:OntologyClass mondo A gas planet which has an atmosphere composed primarily of helium. http://purl.obolibrary.org/obo/ENVO_01001147 MONDO:0024468 anterior pituitary gland disease biolink:Disease mondo ICD9:253.9|ICD9:253.4|SCTID:51742006 A disease that involves the adenohypophysis. SNOMEDCT:51742006 http://purl.obolibrary.org/obo/MONDO_0024468 adenohypophysis disease or disorder|disease of adenohypophysis|disorder of anterior pituitary|disorder of adenohypophysis|disorder of anterior pituitary gland|disorder of adenohypophysis|adenohypophysis disease|disease or disorder of adenohypophysis MONDO:0000499 non-arteritic anterior ischemic optic neuropathy biolink:Disease mondo DOID:0050864|UMLS:C1852242 UMLS:C1852242|DOID:0050864 http://purl.obolibrary.org/obo/MONDO_0000499 nonarteritic anterior ischemic optic neuropathy|non-arteritic aion MONDO:0000490 glomerulosclerosis biolink:Disease mondo UMLS:C0178664|DOID:0050851|SCTID:197661001|NCIT:C120888|COHD:261071 A hardening of the kidney glomerulus caused by scarring of the blood vessels. UMLS:C0178664|DOID:0050851|NCIT:C120888|SNOMEDCT:197661001 http://purl.obolibrary.org/obo/MONDO_0000490 glomerular sclerosis HP:0001789 Hydrops fetalis biolink:PhenotypicFeature mondo MSH:D015160|UMLS:C0020305|SNOMEDCT_US:276508000 The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. http://purl.obolibrary.org/obo/HP_0001789 MONDO:0024461 angiomatosis biolink:Disease mondo SCTID:205562004|MESH:D000798|NCIT:C27503|UMLS:C0002992 A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling. SNOMEDCT:205562004|UMLS:C0002992|MESH:D000798|NCIT:C27503 http://purl.obolibrary.org/obo/MONDO_0024461 multiple hemangiomas|angiomatosis|diffuse angiomatosis|angiomatoses|diffuse hemangioma MONDO:0000494 renal fibrosis biolink:Disease mondo EFO:1001517|UMLS:C0151650|DOID:0050855|SCTID:197660000 A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis. UMLS:C0151650|DOID:0050855|SNOMEDCT:197660000 http://purl.obolibrary.org/obo/MONDO_0000494 MONDO:0000493 obsolete Muckle-Wells syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0000493 MONDO:0024460 obsolete Herpesviridae infections biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024460 MONDO:0024463 ovarian dysgenesis 1 biolink:Disease mondo OMIM:233300 http://identifiers.org/omim/233300 http://purl.obolibrary.org/obo/MONDO_0024463 ovarian dysgenesis 1; ODG1|XX gonadal dysgenesis|gonadal dysgenesis, 20 type|ovarian dysgenesis, hypergonadotropic, autosomal recessive|gonadal dysgenesis, XX type|ovarian failure, hypergonadotropic|ovarian dysgenesis, hypergonadotropic, with normal karyotype|ODG1|XXGD MONDO:0000492 chronic venous insufficiency biolink:Disease mondo DOID:0050853|UMLS:C1306557|EFO:0007940 Chronic form of venous insufficiency (disease). UMLS:C1306557|DOID:0050853 http://purl.obolibrary.org/obo/MONDO_0000492 chronic venous insufficiency (disease)|venous insufficiency (disease), chronic MONDO:0024462 familial cutaneous melanoma biolink:Disease mondo OMIMPS:155600 An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0024462 hereditary cutaneous melanoma (disease) MONDO:0000491 limb ischemia biolink:Disease mondo DOID:0050852|SCTID:21631000119105|UMLS:C2945695 A ischemia that involves the limb. SNOMEDCT:21631000119105|DOID:0050852|UMLS:C2945695 http://purl.obolibrary.org/obo/MONDO_0000491 ischemic disease of limb|limb ischemia|limb ischemic disease MONDO:0012487 alopecia-intellectual disability syndrome 2 biolink:Disease mondo MESH:C563668|UMLS:C1835852|GARD:0004291|OMIM:610422 MESH:C563668|UMLS:C1835852|http://identifiers.org/omim/610422 http://purl.obolibrary.org/obo/MONDO_0012487 alopecia intellectual disability syndrome 2|alopecia-intellectual disability syndrome 2|alopecia with mild to moderate intellectual deficit|APMR2|AMR syndrome 2|alopecia-mental retardation syndrome 2|alopecia-mental retardation syndrome 2; APMR2|alopecia-intellectual disability syndrome 2; APMR2 MONDO:0012488 hepatitis B virus, susceptibility to biolink:Disease mondo OMIM:610424|UMLS:C3552304 UMLS:C3552304|http://identifiers.org/omim/610424 http://purl.obolibrary.org/obo/MONDO_0012488 hepatitis b virus, susceptibility to|Hepatitis B Virus, resistance to|HBV, resistance to|HBV, susceptibility to predisposition MONDO:0012485 autosomal recessive nonsyndromic deafness 68 biolink:Disease mondo MESH:C563669|DOID:0110519|OMIM:610419|UMLS:C1835854|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene. MESH:C563669|UMLS:C1835854|http://identifiers.org/omim/610419|DOID:0110519 http://purl.obolibrary.org/obo/MONDO_0012485 S1PR2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in S1PR2|deafness, autosomal recessive 68; DFNB68|autosomal recessive deafness 68|DFNB68|autosomal recessive nonsyndromic deafness type 68|deafness, autosomal recessive 68 MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 biolink:Disease mondo MESH:C566904|UMLS:C1968893|OMIM:610420 UMLS:C1968893|http://identifiers.org/omim/610420|MESH:C566904 http://purl.obolibrary.org/obo/MONDO_0012486 preauricular Tag, isolated, autosomal dominant, type 1|preauricular tag, isolated, autosomal dominant, 1 HP:0001787 Abnormal delivery biolink:PhenotypicFeature mondo SNOMEDCT_US:274127000|UMLS:C0549629 An abnormality of the birth process. http://purl.obolibrary.org/obo/HP_0001787 Abnormal delivery|Delivery complication MONDO:0012489 cataract 23 biolink:Disease mondo OMIM:610425|UMLS:C3808012|DOID:0110271|ICD10:Q12.0 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene. UMLS:C3808012|http://identifiers.org/omim/610425|DOID:0110271 http://purl.obolibrary.org/obo/MONDO_0012489 cataract 23; CTRCT23|cataract 23, lamellar|cataract 23, multiple types, with or without microcornea|cataract 23|cataract 23, multiple types|CRYBA4 early-onset non-syndromic cataract|cataract type 23|CTRCT23|cataract 23, multiple types; CTRCT23|early-onset non-syndromic cataract caused by mutation in CRYBA4|lamellar cataract 23 MONDO:0036491 obsolete rare childhood malignant neoplasm biolink:Disease mondo NCIT:C114451|UMLS:C3828369 An infrequent malignant neoplasm that occurs during childhood. UMLS:C3828369|NCIT:C114451 http://purl.obolibrary.org/obo/MONDO_0036491 rare childhood malignant neoplasm|rare malignant childhood neoplasm|rare childhood cancer|Rare malignant neoplasm obsoletion_candidate MONDO:0012480 diabetes mellitus, transient neonatal, 2 biolink:Disease mondo MESH:C563672|OMIM:610374|SCTID:609580007|UMLS:C1835887 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene. UMLS:C1835887|http://identifiers.org/omim/610374|SNOMEDCT:609580007|MESH:C563672 http://purl.obolibrary.org/obo/MONDO_0012480 ABCC8 transient neonatal diabetes mellitus (disease)|diabetes mellitus, transient neonatal, 2|diabetes mellitus, transient neonatal, type 2|transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8|Tndm2 MONDO:0012483 cone-rod dystrophy 11 biolink:Disease mondo MESH:C563671|UMLS:C1835865|DOID:0111018|OMIM:610381 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene. UMLS:C1835865|DOID:0111018|http://identifiers.org/omim/610381|MESH:C563671 http://purl.obolibrary.org/obo/MONDO_0012483 cone-rod dystrophy caused by mutation in RAX2|cone-rod dystrophy 11; CORD11|cone-rod dystrophy type 11|cone-rod dystrophy 11|RAX2 cone-rod dystrophy|CORD11 MONDO:0012484 prosopagnosia, hereditary biolink:Disease mondo GARD:0010035|UMLS:C2931455|OMIM:610382 An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome. UMLS:C2931455|http://identifiers.org/omim/610382 http://purl.obolibrary.org/obo/MONDO_0012484 congenital prosopagnosia|face blindness|prosopagnosia, developmental|prosopagnosia, congenital|hereditary prosopagnosia|prosopagnosia, hereditary|developmental prosopagnosia|hereditary prosopagnosia (disease) MONDO:0012481 mevalonic aciduria biolink:Disease mondo NCIT:C84890|OMIM:610377|MedDRA:10072219|UMLS:C1959626|Orphanet:29|GARD:0003588|SCTID:718558008|DOID:0050452|ICD10:E88.8 Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. NCIT:C84890|MESH:D054078|DOID:0050452|SNOMEDCT:718558008|UMLS:C1959626|http://identifiers.org/omim/610377|UMLS:C0342731|MEDDRA:10072219|ORPHA:29 http://purl.obolibrary.org/obo/MONDO_0012481 mevalonic aciduria|HIDS|mevalonate kinase deficiency|hyperimmunoglobulin D with periodic fever syndrome|mevalonic aciduria; MEVA|complete mevalonate kinase deficiency|Mevalonicaciduria|MVA|MEVA|MKD gard_rare|ordo_disease MONDO:0012482 West Nile virus, susceptibility to biolink:Disease mondo OMIM:610379 http://identifiers.org/omim/610379 http://purl.obolibrary.org/obo/MONDO_0012482 West Nile virus, susceptibility to|WNV, susceptibility to predisposition MONDO:0024454 sacral nerve plexus disease biolink:Disease mondo MESH:C537224|GARD:0007597|UMLS:C2931445 A disease that involves the sacral nerve plexus. UMLS:C2931445|MESH:C537224 http://purl.obolibrary.org/obo/MONDO_0024454 disorder of sacral nerve plexus|sacral plexopathy|disorder of sacral nerve plexus|disease or disorder of sacral nerve plexus|sacral nerve plexus disorder|sacral nerve plexus disease or disorder|disease of sacral nerve plexus MONDO:0024456 anterior segment dysgenesis 3 biolink:Disease mondo GARD:0002482|GARD:0002978|MESH:C535535|OMIM:601631 An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1) MESH:C535535|http://identifiers.org/omim/601631 http://purl.obolibrary.org/obo/MONDO_0024456 anterior segment dysgenesis 3|IGDA syndrome|iris hypoplasia with glaucoma|IGDA|iridogoniodysgenesis, type 1; IRID1|FOXC1 iridogoniodysgenesis|ASGD3|anterior segment dysgenesis 3; ASGD3|iridogoniodysgenesis, type 1|iridogoniodysgenesis type 1|glaucoma iridogoniodysplasia, familial|IRID1|iridogoniodysgenesis anomaly, autosomal dominant|glaucoma iridogoniodysgenesia|iridogoniodysgenesis caused by mutation in FOXC1 gard_rare MONDO:0024455 autosomal dominant Robinow syndrome 1 biolink:Disease mondo DOID:0060766|OMIM:180700 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene. http://identifiers.org/omim/180700|DOID:0060766 http://purl.obolibrary.org/obo/MONDO_0024455 autosomal dominant Robinow syndrome caused by mutation in WNT5A|DRS1|fetal face syndrome|Robinow dwarfism|Robinow syndrome, autosomal dominant 1; DRS1|acral dysostosis with Facial and genital abnormalities|WNT5A autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant 1 MONDO:0024458 disease of visual system biolink:Disease mondo SCTID:128127008 A disease that involves the visual system. SNOMEDCT:128127008 http://purl.obolibrary.org/obo/MONDO_0024458 visual system disease|disease or disorder of visual system|visual system disease or disorder|disease of visual system|disorder of visual system|visual system disorder|disorder of visual system ENVO:01001136 ocean planet biolink:OntologyClass mondo A planet which has a surface layer that nearly completely or completely covered by water, and which has a substantial portion of its mass composed of water. http://purl.obolibrary.org/obo/ENVO_01001136 water world|panthalassic planet|aquaplanet MONDO:0024457 neurodegeneration with brain iron accumulation 2A biolink:Disease mondo GARD:0002751|OMIM:256600|DOID:0110735 http://identifiers.org/omim/256600|DOID:0110735 http://purl.obolibrary.org/obo/MONDO_0024457 neurodegeneration with brain iron accumulation type 2a|neurodegeneration, Pla2g6-associated|Seitelberger disease|neurodegeneration with brain iron accumulation 2A|Hunter Carpenter Macdonald syndrome|inaD|INAD1|NBIA2a|NBIA2A|neurodegeneration with brain iron accumulation type 2A|neurodegeneration, Pla2G6-associated|neurodegeneration, PLA2G6-associated|neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene|infantile neuroaxonal dystrophy 1|neurodegeneration with brain iron accumulation 2A; NBIA2A|neuroaxonal dystrophy, infantile ENVO:01001135 desert planet biolink:OntologyClass mondo A terrestrial planet which has a surface dominated by hot deserts. http://purl.obolibrary.org/obo/ENVO_01001135 dry planet MONDO:0024459 Aeromonas hydrophila intestinal disease biolink:Disease mondo ICD9:008.47|SCTID:446988001|UMLS:C2960005 UMLS:C2960005|SNOMEDCT:446988001 http://purl.obolibrary.org/obo/MONDO_0024459 intestinal infection due to Aeromonas hydrophila|intestinal infection caused by Aeromonas hydrophila ENVO:01001137 ice planet biolink:OntologyClass mondo A planet which has a surface layer that nearly completely or completely covered by ice, and which has a substantial portion of its mass composed of ice. http://purl.obolibrary.org/obo/ENVO_01001137 cryoplanet MONDO:0012476 hereditary spastic paraplegia 30 biolink:Disease mondo ICD10:G11.4|Orphanet:101010|DOID:0110781|SCTID:763377006|UMLS:C1835896|MESH:C563677|OMIM:610357 Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. DOID:0110781|MESH:C563677|ORPHA:101010|UMLS:C1835896|SNOMEDCT:763377006|http://identifiers.org/omim/610357 http://purl.obolibrary.org/obo/MONDO_0012476 autosomal recessive spastic paraplegia 30|spastic paraplegia 30, autosomal recessive|autosomal spastic paraplegia type 30|KIF1A hereditary spastic paraplegia|spastic paraplegia 30, autosomal recessive; SPG30|SPG30|hereditary spastic paraplegia caused by mutation in KIF1A|hereditary spastic paraplegia type 30 ordo_disease MONDO:0012477 retinitis pigmentosa 33 biolink:Disease mondo DOID:0110366|MESH:C563676|OMIM:610359|GARD:0010400|UMLS:C1835895|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene. MESH:C563676|UMLS:C1835895|http://identifiers.org/omim/610359|DOID:0110366 http://purl.obolibrary.org/obo/MONDO_0012477 retinitis pigmentosa 33|retinitis pigmentosa caused by mutation in SNRNP200|SNRNP200 retinitis pigmentosa|RP 33|retinitis pigmentosa type 33|RP33|retinitis pigmentosa 33; RP33 gard_rare MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 biolink:Disease mondo MESH:C563679|OMIM:610353|DOID:0060685|UMLS:C1835905 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene. MESH:C563679|DOID:0060685|UMLS:C1835905|http://identifiers.org/omim/610353 http://purl.obolibrary.org/obo/MONDO_0012474 ENFL4|autosomal dominant nocturnal frontal lobe epilepsy type 4|epilepsy, nocturnal frontal lobe, 4|nocturnal frontal lobe epilepsy 4|seizures, benign familial infantile, 6|CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy|epilepsy, nocturnal frontal lobe, 4; ENFL4|epilepsy, familial, with nocturnal wandering and Ictal fear|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2|epilepsy, nocturnal frontal lobe, type 4|convulsions, benign familial infantile, 6 HP:0001792 Small nail biolink:PhenotypicFeature mondo UMLS:C0263523|SNOMEDCT_US:11375002 A nail that is diminished in length and width, i.e., underdeveloped nail. http://purl.obolibrary.org/obo/HP_0001792 Nail hypoplasia|Hypoplastic nails|Small nails|Small nail|Hypoplastic nail MONDO:0012475 cone dystrophy with supernormal rod response biolink:Disease mondo SCTID:719455002|UMLS:C4304714|ICD10:H35.5|GARD:0010649|OMIM:610356|MESH:C563678|UMLS:C1835897|Orphanet:209932 Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. MESH:C563678|UMLS:C1835897|UMLS:C4304714|ORPHA:209932|http://identifiers.org/omim/610356|SNOMEDCT:719455002 http://purl.obolibrary.org/obo/MONDO_0012475 cone dystrophy with supernormal rod electroretinogram|RCD3B|cone dystrophy with supernormal rod ERG|cone dystrophy with night blindness and supernormal rod responses KCNV2 related|cone dystrophy with supernormal scotopic electroretinogram|retinal cone dystrophy type 3B|cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related|cone dystrophy with supernormal Rod responses|retinal cone dystrophy 3B; RCD3B|retinal cone dystrophy 3B ordo_disease MONDO:0012478 orofacial cleft 9 biolink:Disease mondo OMIM:610361|UMLS:C1835894|MESH:C563675 MESH:C563675|UMLS:C1835894|http://identifiers.org/omim/610361 http://purl.obolibrary.org/obo/MONDO_0012478 orofacial cleft 9; OFC9|orofacial cleft 9|OFC9|cleft lip with or without cleft palate, nonsyndromic, 9 MONDO:0012479 congenital malabsorptive diarrhea 4 biolink:Disease mondo UMLS:C1835888|SCTID:722392003|Orphanet:83620|DOID:0060779|OMIM:610370|MESH:C563673|ICD10:P78.3 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported. ORPHA:83620|MESH:C563673|DOID:0060779|UMLS:C1835888|SNOMEDCT:722392003|http://identifiers.org/omim/610370 http://purl.obolibrary.org/obo/MONDO_0012479 congenital malabsorptive diarrhea type 4|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells|diarrhea 4, malabsorptive, congenital; DIAR4|diarrhea 4, malabsorptive, congenital|enteric anendocrinosis|NEUROG3 congenital diarrhea|congenital diarrhea caused by mutation in NEUROG3|DIAR4 ordo_disease HP:0011107 Recurrent aphthous stomatitis biolink:PhenotypicFeature mondo SNOMEDCT_US:110426005|SNOMEDCT_US:427617000|MSH:D013281|UMLS:C0038363|SNOMEDCT_US:426965005|UMLS:C2937365|SNOMEDCT_US:398870000 Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. http://purl.obolibrary.org/obo/HP_0011107 Recurrent oral aphthae|Buccal aphthous ulcers|Aphthous stomatitis|Recurrent canker sores|Recurrent aphthous ulcers MONDO:0012472 Aicardi-Goutieres syndrome 4 biolink:Disease mondo UMLS:C1835912|GARD:0010896|OMIM:610333|MESH:C563681 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene. MESH:C563681|UMLS:C1835912|http://identifiers.org/omim/610333 http://purl.obolibrary.org/obo/MONDO_0012472 Aicardi-Goutieres syndrome 4|Aicardi-Goutieres syndrome caused by mutation in RNASEH2A|Aicardi-Goutieres syndrome 4; AGS4|RNASEH2A-related Aicardi-Goutieres syndrome|AGS4|Aicardi-Goutieres syndrome type 4|RNASEH2A Aicardi-Goutieres syndrome MONDO:0012473 right pulmonary artery, anomalous origin of, familial biolink:Disease mondo MESH:C535681|OMIM:610338|UMLS:C1835910|GARD:0010146 UMLS:C1835910|http://identifiers.org/omim/610338|MESH:C535681 http://purl.obolibrary.org/obo/MONDO_0012473 familial anomalous origin of right pulmonary artery|familial ARPA|Arpa, familial|ARPA familial|anomalous origin of right pulmonary artery familial|right pulmonary artery, anomalous origin of, familial|right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus gard_rare MONDO:0012470 HPC7 biolink:Disease mondo UMLS:C1853195|MESH:C565201|OMIM:610321 MESH:C565201|http://identifiers.org/omim/610321|UMLS:C1853195 http://purl.obolibrary.org/obo/MONDO_0012470 prostate cancer aggressiveness|HPC7|prostate cancer, hereditary, 7; HPC7|prostate cancer, hereditary, 7 MONDO:0012471 Aicardi-Goutieres syndrome 3 biolink:Disease mondo OMIM:610329|UMLS:C1835916|GARD:0010895|MESH:C563683 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene. MESH:C563683|UMLS:C1835916|http://identifiers.org/omim/610329 http://purl.obolibrary.org/obo/MONDO_0012471 Aicardi-Goutieres syndrome caused by mutation in RNASEH2C|RNASEH2C -related Aicardi-Goutieres syndrome|RNASEH2C Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 3|AGS3|Aicardi-Goutieres syndrome 3|Aicardi-Goutieres syndrome 3; AGS3 CHEBI:77307 cardioprotective agent biolink:ChemicalSubstance mondo Any protective agent that is able to prevent damage to the heart. http://purl.obolibrary.org/obo/CHEBI_77307 cardioprotective agents MONDO:0024498 glioma susceptibility 1 biolink:Disease mondo OMIM:137800 http://identifiers.org/omim/137800 http://purl.obolibrary.org/obo/MONDO_0024498 astrocytoma|glioblastoma multiforme|glioma of brain, familial|ependymoma|subependymoma|GLM1|glioma susceptibility 1; GLM1|oligodendroglioma predisposition MONDO:0024497 tumor grade 3 or 4, general grading system biolink:Disease mondo NCIT:C14158 Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. NCIT:C14158 http://purl.obolibrary.org/obo/MONDO_0024497 high grade|grade 3/4 MONDO:0024499 vascular bone neoplasm biolink:Disease mondo NCIT:C6478|UMLS:C1336946 A benign, intermediate, or malignant vascular neoplasm that arises from the bone. UMLS:C1336946|NCIT:C6478 http://purl.obolibrary.org/obo/MONDO_0024499 osseous vascular neoplasm|osseous vascular tumor|bone vascular neoplasm|vascular bone neoplasm|vascular neoplasm of bone|vascular neoplasm of the bone|vascular tumor of bone|bone vascular tumor|vascular tumor of the bone HP:0011146 Dialeptic seizure biolink:PhenotypicFeature mondo A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. http://purl.obolibrary.org/obo/HP_0011146 HP:0011147 Typical absence seizure biolink:PhenotypicFeature mondo MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|UMLS:C0014553|SNOMEDCT_US:230413002 A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. http://purl.obolibrary.org/obo/HP_0011147 Typical absence|Typical absence seizures MONDO:0024490 tumor grade X, general grading system biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024490 undetermined grade MONDO:0024492 tumor grade 2, general grading system biolink:Disease mondo EFO:0005746|NCIT:C28078 A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. NCIT:C28078 http://purl.obolibrary.org/obo/MONDO_0024492 moderately differentiated|intermediate grade|grade 2|grade II|G2 MONDO:0024491 tumor grade 1, general grading system biolink:Disease mondo LOINC:LA9629-2|NCIT:C28077|UMLS:C0475269 A morphologic qualifier indicating that a cancerous lesion is well differentiated. UMLS:C0475269|NCIT:C28077 http://purl.obolibrary.org/obo/MONDO_0024491 well differentiated|grade I|low grade|grade 1|G1 MONDO:0024494 tumor grade 4, general grading system biolink:Disease mondo NCIT:C28082 A morphologic qualifier indicating that a cancerous lesion is undifferentiated. NCIT:C28082 http://purl.obolibrary.org/obo/MONDO_0024494 grade 4|G4|high grade|grade IV|undifferentiated MONDO:0024493 tumor grade 3, general grading system biolink:Disease mondo NCIT:C28079|UMLS:C0475271 A morphologic qualifier indicating that a cancerous lesion is poorly differentiated. UMLS:C0475271|NCIT:C28079 http://purl.obolibrary.org/obo/MONDO_0024493 poorly differentiated|grade III|high grade|grade 3|G3 MONDO:0024496 tumor grade 2 or 3, general grading system biolink:Disease mondo NCIT:C94678 A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. NCIT:C94678 http://purl.obolibrary.org/obo/MONDO_0024496 grade 2/3 MONDO:0024495 tumor grade 1 or 2, general grading system biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0024495 grade 1/2 NCBITaxon:121229 Pthiridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_121229 Phthiridae|pubic lice NCBITaxon:121228 Pthirus pubis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_121228 genital louse|crab louse|Phtirus pubis|Phthirus pubis|public louse NCBITaxon:121227 Pthirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_121227 Phthirus|Phtirus NCBITaxon:121222 Pediculus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_121222 NCBITaxon:121221 Pediculidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_121221 primate body lice|body lice NCBITaxon:121226 Pediculus humanus capitis organism taxon mondo PMID:23049889|GC_ID:1|PMID:18434207 http://purl.obolibrary.org/obo/NCBITaxon_121226 Pediculus capitis|human head louse|human head lice NCBITaxon:121225 Pediculus humanus organism taxon mondo PMID:23049889|GC_ID:1|PMID:18434207 http://purl.obolibrary.org/obo/NCBITaxon_121225 human lice|human louse|head lice|body lice NCBITaxon:121224 Pediculus humanus corporis organism taxon mondo PMID:23049889|GC_ID:1|PMID:18434207 http://purl.obolibrary.org/obo/NCBITaxon_121224 human body lice|human body louse|Pediculus humanus humanus GO:0006144 purine nucleobase metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. http://purl.obolibrary.org/obo/GO_0006144 purine base metabolic process|purine metabolic process|purine base metabolism|purine metabolism GO:0006142 regulation of pyrimidine nucleobase metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. http://purl.obolibrary.org/obo/GO_0006142 regulation of pyrimidine base metabolic process|regulation of pyrimidine base metabolism GO:0006140 regulation of nucleotide metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. http://purl.obolibrary.org/obo/GO_0006140 regulation of nucleotide metabolism GO:0006141 regulation of purine nucleobase metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines. http://purl.obolibrary.org/obo/GO_0006141 regulation of purine base metabolic process|regulation of purine base metabolism GO:0045759 negative regulation of action potential biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. http://purl.obolibrary.org/obo/GO_0045759 down regulation of action potential|inhibition of action potential|down-regulation of action potential|downregulation of action potential GO:0033764 steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP, and in which one substrate is a sterol derivative. http://purl.obolibrary.org/obo/GO_0033764 GO:0045763 negative regulation of cellular amino acid metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amino acid. http://purl.obolibrary.org/obo/GO_0045763 inhibition of amino acid metabolic process|down-regulation of amino acid metabolic process|negative regulation of amino acid metabolism|downregulation of amino acid metabolic process|down regulation of amino acid metabolic process GO:0045764 positive regulation of cellular amino acid metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid. http://purl.obolibrary.org/obo/GO_0045764 upregulation of amino acid metabolic process|positive regulation of amino acid metabolism|up regulation of amino acid metabolic process|stimulation of amino acid metabolic process|activation of amino acid metabolic process|up-regulation of amino acid metabolic process GO:0045760 positive regulation of action potential biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. http://purl.obolibrary.org/obo/GO_0045760 up regulation of action potential|stimulation of action potential|up-regulation of action potential|activation of action potential|upregulation of action potential GO:0018130 heterocycle biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/GO_0018130 heterocycle anabolism|heterocycle biosynthesis|heterocycle synthesis|heterocycle formation FOODON:03400217 meat, poultry, seafood or related product (us cfr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0217 Products of the flesh of animals. [FDA CFSAN 1995] http://purl.obolibrary.org/obo/FOODON_03400217 HGNC:21580 KIAA0319 biolink:OntologyClass mondo http://identifiers.org/hgnc/21580 GO:0045778 positive regulation of ossification biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/GO_0045778 positive regulation of bone formation|positive regulation of bone biosynthesis|upregulation of ossification|stimulation of ossification|up regulation of ossification|activation of ossification|up-regulation of ossification GO:0045779 negative regulation of bone resorption biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption. http://purl.obolibrary.org/obo/GO_0045779 down-regulation of bone resorption|down regulation of bone resorption|downregulation of bone resorption|inhibition of bone resorption FOODON:03412215 mud crab family biolink:OntologyClass mondo Mud crab may refer to any crab that lives in or near mud, such as: species from family *Portunidae*, such as *Scylla serrata*; *Scylla tranquebarica*; *Scylla paramamosain*; members of the family *Panopeidae*, such as *Panopeus herbstii*; members of the family *Xanthidae*; *Helice crassa*, the tunnelling mud crab. [https://en.wikipedia.org/wiki/Mud_crab] http://purl.obolibrary.org/obo/FOODON_03412215 GO:0045780 positive regulation of bone resorption biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of bone resorption. http://purl.obolibrary.org/obo/GO_0045780 up-regulation of bone resorption|up regulation of bone resorption|activation of bone resorption|stimulation of bone resorption|upregulation of bone resorption GO:0006139 nucleobase-containing compound metabolic process biolink:OntologyClass mondo Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0006139 cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process GO:0045787 positive regulation of cell cycle biolink:OntologyClass mondo Any process that activates or increases the rate or extent of progression through the cell cycle. http://purl.obolibrary.org/obo/GO_0045787 stimulation of progression through cell cycle|up-regulation of progression through cell cycle|positive regulation of cell cycle progression|activation of progression through cell cycle|upregulation of progression through cell cycle|positive regulation of progression through cell cycle|up regulation of progression through cell cycle GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. http://purl.obolibrary.org/obo/GO_0043124 downregulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|down-regulation of I-kappaB kinase/NF-kappaB cascade|inhibition of I-kappaB kinase/NF-kappaB cascade|down regulation of I-kappaB kinase/NF-kappaB cascade GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. http://purl.obolibrary.org/obo/GO_0043123 up-regulation of I-kappaB kinase/NF-kappaB cascade|stimulation of I-kappaB kinase/NF-kappaB cascade|up regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|upregulation of I-kappaB kinase/NF-kappaB cascade|activation of I-kappaB kinase/NF-kappaB cascade GO:0045785 positive regulation of cell adhesion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cell adhesion. http://purl.obolibrary.org/obo/GO_0045785 up-regulation of cell adhesion|up regulation of cell adhesion|activation of cell adhesion|stimulation of cell adhesion|upregulation of cell adhesion GO:0045786 negative regulation of cell cycle biolink:OntologyClass mondo Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. http://purl.obolibrary.org/obo/GO_0045786 downregulation of progression through cell cycle|down regulation of progression through cell cycle|inhibition of progression through cell cycle|down-regulation of progression through cell cycle|negative regulation of progression through cell cycle|negative regulation of cell cycle progression GO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling biolink:OntologyClass mondo Any process that modulates I-kappaB kinase/NF-kappaB signaling. http://purl.obolibrary.org/obo/GO_0043122 regulation of I-kappaB kinase/NF-kappaB cascade GO:0070727 cellular macromolecule localization biolink:OntologyClass mondo Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localisation GO:0043129 surfactant homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli. http://purl.obolibrary.org/obo/GO_0043129 NCBITaxon:7088 Lepidoptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7088 moths|butterflies and moths|moths GO:0006109 regulation of carbohydrate metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates. http://purl.obolibrary.org/obo/GO_0006109 regulation of carbohydrate metabolism UBERON:0005704 secondary palatal shelf mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing secondary palatal shelf. http://purl.obolibrary.org/obo/UBERON_0005704 palatal shelf mesenchyme GO:0006101 citrate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving citrate, 2-hydroxy-1,2,3-propanetricarboyxlate. Citrate is widely distributed in nature and is an important intermediate in the TCA cycle and the glyoxylate cycle. http://purl.obolibrary.org/obo/GO_0006101 citrate metabolism HP:0040290 obsolete Abnormality of skeletal muscles biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0040290 GO:0055114 oxidation-reduction process biolink:OntologyClass mondo A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons. http://purl.obolibrary.org/obo/GO_0055114 oxidation reduction|oxidoreductase process UBERON:0005712 midgut duodenum mesentery biolink:AnatomicalEntity mondo A mesentery of duodenum that is part of a midgut. http://purl.obolibrary.org/obo/UBERON_0005712 UBERON:0005711 foregut duodenum mesentery biolink:AnatomicalEntity mondo A mesentery of duodenum that is part of a foregut. http://purl.obolibrary.org/obo/UBERON_0005711 HGNC:33551 NDUFAF8 biolink:OntologyClass mondo http://identifiers.org/hgnc/33551 HGNC:21576 NHLRC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21576 GO:0006119 oxidative phosphorylation biolink:OntologyClass mondo The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/GO_0006119 respiratory-chain phosphorylation HGNC:21575 AHI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21575 GO:0006111 regulation of gluconeogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. http://purl.obolibrary.org/obo/GO_0006111 regulation of gluconeogenesis involved in cellular glucose homeostasis|regulation of glucose biosynthesis|regulation of glucose biosynthetic process GO:0006112 energy reserve metabolic process biolink:OntologyClass mondo The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolism NCBITaxon:1980613 unclassified Bunyavirales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980613 MONDO:0043494 arteritis biolink:Disease mondo HP:0012089|EFO:0009011|NCIT:C34399|MESH:D001167|SCTID:52089001 An inflammatory process affecting an artery. NCIT:C34399|MESH:D001167|SNOMEDCT:52089001 http://purl.obolibrary.org/obo/MONDO_0043494 inflammation of artery|arterial Inflammation|arteritis|Inflammation, arterial|Arteritides|artery inflammation GO:0006110 regulation of glycolytic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glycolysis. http://purl.obolibrary.org/obo/GO_0006110 regulation of glycolysis involved in cellular glucose homeostasis GO:0043143 regulation of translation by machinery localization biolink:OntologyClass mondo Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0043143 translational protein localization|establishment and maintenance of translational machinery localization|regulation of translation by machinery localisation|establishment and maintenance of translational protein localization|translational machinery localization UBERON:0005702 optic eminence mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a optic eminence. http://purl.obolibrary.org/obo/UBERON_0005702 GO:0055123 digestive system development biolink:OntologyClass mondo The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/GO_0055123 NCBITaxon:92251 Trombiculidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_92251 redbugs|harvest mites|chiggers HGNC:1606 CCR5 biolink:OntologyClass mondo http://identifiers.org/hgnc/1606 GO:0008757 S-adenosylmethionine-dependent methyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate. http://purl.obolibrary.org/obo/GO_0008757 S-adenosyl methionine-dependent methyltransferase activity|SAM-dependent methyltransferase activity HGNC:21555 EYS biolink:OntologyClass mondo http://identifiers.org/hgnc/21555 HGNC:21558 RSPH4A biolink:OntologyClass mondo http://identifiers.org/hgnc/21558 GO:0043168 anion binding biolink:OntologyClass mondo Interacting selectively and non-covalently with anions, charged atoms or groups of atoms with a net negative charge. http://purl.obolibrary.org/obo/GO_0043168 GO:0043167 ion binding biolink:OntologyClass mondo Interacting selectively and non-covalently with ions, charged atoms or groups of atoms. http://purl.obolibrary.org/obo/GO_0043167 atom binding MONDO:0018480 carcinoma of esophagus, salivary gland type biolink:Disease mondo Orphanet:418945|ICD10:C15.8|ICD10:C15.5|ICD10:C15.4|ICD10:C15.3|ICD10:C15.2|ICD10:C15.1|ICD10:C15.0|UMLS:CN237468 ORPHA:418945|UMLS:CN237468 http://purl.obolibrary.org/obo/MONDO_0018480 esophageal carcinoma, salivary gland type ordo_disease MONDO:0018482 obsolete squamous cell carcinoma of stomach biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018482 MONDO:0018481 undifferentiated carcinoma of esophagus biolink:Disease mondo ICD10:C15.2|ICD10:C15.1|ICD10:C15.0|Orphanet:418951|ICD10:C15.8|UMLS:CN237469|ICD10:C15.5|NCIT:C27422|UMLS:C2188058|ICD10:C15.4|ICD10:C15.3 An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation. NCIT:C27422|ORPHA:418951|UMLS:C2188058|UMLS:CN237469 http://purl.obolibrary.org/obo/MONDO_0018481 undifferentiated esophageal carcinoma|undifferentiated esophageal cancer|esophageal undifferentiated carcinoma|esophagus undifferentiated carcinoma ordo_disease MONDO:0006499 hamartoma (disease) biolink:Disease mondo NCIT:C3075|MESH:D006222|HP:0010566|UMLS:C0018552|EFO:1000634|SCTID:400006008|ICD9:759.6 A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. SNOMEDCT:400006008|MESH:D006222|UMLS:C0018552|NCIT:C3075 http://purl.obolibrary.org/obo/MONDO_0006499 hamartoma MONDO:0006497 cerebral palsy biolink:Disease mondo HP:0100021|GARD:0010450|ICD10:G80.9|NCIT:C34460|DOID:1969|COHD:4134120|CSP:0723-4729|UMLS:C0007789|ICD10:G80|MESH:D002547|EFO:1000632|ICD9:343.8|SCTID:128188000|ICD9:343.9 A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. NCIT:C34460|SNOMEDCT:128188000|UMLS:C0007789|DOID:1969|MESH:D002547 http://purl.obolibrary.org/obo/MONDO_0006497 infantile cerebral palsy MONDO:0006498 adenomatous colon polyp biolink:Disease mondo SCTID:428054006|NCIT:C96479|EFO:1000633|HP:0005227 A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous. SNOMEDCT:428054006|NCIT:C96479 http://purl.obolibrary.org/obo/MONDO_0006498 colonic adenomatous polyp|adenomatous polyp of the colon|colon adenomatous polyp|adenomatous polyp of colon MONDO:0006495 obsolete marginal zone B-cell lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006495 MONDO:0006496 palsy biolink:Disease mondo Wikipedia:Palsy|MESH:D010243|EFO:1000631 A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) MESH:D010243 http://purl.obolibrary.org/obo/MONDO_0006496 Plegia|Plegias MONDO:0006493 Warthin tumor biolink:Disease mondo UMLS:C0001429|SCTID:422470007|GARD:0008569|EFO:1000625|MESH:D000235|NCIT:C2854|ICDO:8561/0 An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland. SNOMEDCT:422470007|UMLS:C0001429|MESH:D000235|NCIT:C2854 http://purl.obolibrary.org/obo/MONDO_0006493 papillary cystadenoma lymphomatosum (formerly)|Warthin tumor|papillary cystadenoma lymphomatosum|adenolymphoma|Warthin's tumor gard_rare MONDO:0006494 obsolete thyroid disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006494 NCBITaxon:171 Leptospira organism taxon mondo PMID:1581182|GC_ID:11|PMID:9103653|PMID:10425768|PMID:19868121 http://purl.obolibrary.org/obo/NCBITaxon_171 MONDO:0006491 vulvar lichen sclerosus biolink:Disease mondo UMLS:C0022783|EFO:1000623|MESH:D007724|NCIT:C27723 A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia. MESH:D007724|NCIT:C27723|UMLS:C0022783 http://purl.obolibrary.org/obo/MONDO_0006491 mammalian vulva lichen sclerosus et atrophicus|vulvar lichen sclerosus|lichen sclerosus et atrophicus of mammalian vulva CHEBI:83970 cardiac glycoside biolink:ChemicalSubstance mondo Steroid lactones containing sugar residues that act on the contractile force of the cardiac muscles. http://purl.obolibrary.org/obo/CHEBI_83970 cardiac glycosides MONDO:0006492 obsolete vulvar squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006492 FOODON:03400289 USA agency food product type biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0289 Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995] http://purl.obolibrary.org/obo/FOODON_03400289 MONDO:0006490 vaginal squamous cell carcinoma biolink:Disease mondo UMLS:C0238518|NCIT:C7736|EFO:1000620|ONCOTREE:VSC|SCTID:105121000119102 A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease. NCIT:C7736|SNOMEDCT:105121000119102|UMLS:C0238518 http://purl.obolibrary.org/obo/MONDO_0006490 epidermoid carcinoma of the vagina|carcinoma of vagina squamous cell|vaginal squamous cell carcinoma|vaginal epidermoid carcinoma|vaginal squamous cell cancer, NOS|vagina epidermoid cell carcinoma|squamous cell carcinoma of vagina|vaginal squamous cell carcinoma, not otherwise specified|vagina epidermoid carcinoma|squamous cell carcinoma of the vagina|vagina squamous cell carcinoma|vaginal epidermoid cell carcinoma|vaginal squamous cell cancer|vaginal squamous cell carcinoma, NOS|epidermoid cell carcinoma of vagina|epidermoid cell carcinoma of the vagina|epidermoid carcinoma of vagina|squamous cell carcinoma of the vulva/vagina NCBITaxon:170 Leptospiraceae organism taxon mondo GC_ID:11|PMID:16014471 http://purl.obolibrary.org/obo/NCBITaxon_170 Treponemataceae MONDO:0018488 rare genetic odontal or periodontal disorder biolink:Disease mondo UMLS:CN237489|Orphanet:420755 UMLS:CN237489|ORPHA:420755 http://purl.obolibrary.org/obo/MONDO_0018488 ordo_group_of_disorders|obsoletion_candidate MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency biolink:Disease mondo ICD10:D70|Orphanet:420699 ORPHA:420699 http://purl.obolibrary.org/obo/MONDO_0018487 ordo_disease MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea biolink:Disease mondo UMLS:CN237490|SCTID:765751002|Orphanet:420789|ICD10:G04.8 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported. UMLS:CN237490|ORPHA:420789|SNOMEDCT:765751002 http://purl.obolibrary.org/obo/MONDO_0018489 anti-IgLON5 disease|anti-IgLON5 syndrome ordo_disease MONDO:0018484 semicircular canal dehiscence syndrome biolink:Disease mondo DOID:0080193|SCTID:717799003|ICD10:H83.8|Orphanet:420402|GARD:0010993 Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms. ORPHA:420402|DOID:0080193|SNOMEDCT:717799003 http://purl.obolibrary.org/obo/MONDO_0018484 third mobile window syndrome|Minorbs syndrome|superior semicircular canal dehiscence syndrome|SCD syndrome|superior canal syndrome|superior semicircular canal dehiscence|superior canal dehiscence|Minor's syndrome|canal dehiscence syndrome ordo_clinical_syndrome MONDO:0018483 secondary pulmonary alveolar proteinosis biolink:Disease mondo SCTID:707510005|ICD10:J84.0|UMLS:C3873302|Orphanet:420259 A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency. ORPHA:420259|SNOMEDCT:707510005|UMLS:C3873302 http://purl.obolibrary.org/obo/MONDO_0018483 secondary PAP|SPAP ordo_disease MONDO:0018486 visual snow syndrome biolink:Disease mondo UMLS:CN237477|GARD:0012062|ICD10:H53.8|Orphanet:420556 Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow. UMLS:CN237477|ORPHA:420556 http://purl.obolibrary.org/obo/MONDO_0018486 visual snow gard_rare|ordo_disease MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset biolink:Disease mondo ICD10:E74.0|UMLS:C3888925|SCTID:722343009|UMLS:C0342753|Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. UMLS:C0342753|ORPHA:420429|SNOMEDCT:722343009|UMLS:C3888925 http://purl.obolibrary.org/obo/MONDO_0018485 Alpha-1,4-glucosidase acid deficiency, late onset|glycogen storage disease type 2, late-onset|GSD due to acid maltase deficiency, late-onset|glycogenosis type II, late-onset|GSD type 2, late-onset|glycogen storage disease type 2, late onset|GSD due to acid maltase deficiency, late onset|glycogenosis type II, late onset|GSD type 2, late onset|Pompe disease, late-onset|GSD type II, late-onset|glycogenosis type 2, late-onset|glycogen storage disease type II, late-onset|Pompe disease, late onset|GSD type II, late onset|glycogenosis type 2, late onset|Alpha-1,4-glucosidase acid deficiency, late-onset|glycogen storage disease type II, late onset ordo_clinical_subtype MONDO:0018471 generalized eruptive keratoacanthoma biolink:Disease mondo UMLS:CN237455|ICD10:L85.8|UMLS:C0345985|SCTID:254664008|Orphanet:411777 Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug. SNOMEDCT:254664008|UMLS:CN237455|ORPHA:411777|UMLS:C0345985 http://purl.obolibrary.org/obo/MONDO_0018471 Grzybowski syndrome|generalized eruptive keratoacanthomas of Grzybowski|GEKA ordo_disease MONDO:0018470 renal agenesis (disease) biolink:Disease mondo NCIT:C99041|HP:0000104|COHD:4003487|OMIMPS:191830|DOID:14766|HP:0008678|ICD10:Q60.1|Orphanet:411709|ICD10:Q60.0|SCTID:204942005|ICD10:Q60.2|GARD:0009228 Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). NCIT:C99041|DOID:14766|SNOMEDCT:204942005|ORPHA:411709 http://purl.obolibrary.org/obo/MONDO_0018470 renal adysplasia|renal aplasia|renal hypodysplasia/aplasia|renal agenesis|hereditary urogenital adysplasia|renal agenesis/hypoplasia|hereditary renal aplasia|absent/underdeveloped kidney|absent/small kidney ordo_morphological_anomaly MONDO:0043455 humoral hypercalcemia of malignancy biolink:Disease mondo MESH:C562390|NCIT:C3496|SCTID:47709007|UMLS:C0149911 Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. MESH:C562390|NCIT:C3496|UMLS:C0149911|SNOMEDCT:47709007 http://purl.obolibrary.org/obo/MONDO_0043455 hhm|malignancy associated hypercalcemia|humoral hypercalcemia of malignancy|hypercalcemia of malignancy|malignant hypercalcemia|mahc MONDO:0043452 chromosome 8, trisomy biolink:Disease mondo SCTID:205649008|NCIT:C36396|MESH:C537942 A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. SNOMEDCT:205649008|NCIT:C36396|MESH:C537942 http://purl.obolibrary.org/obo/MONDO_0043452 chromosome 8 duplication|trisomy 8 MONDO:0018477 bilirubin encephalopathy biolink:Disease mondo GARD:0006830|ICD10:P57.9|Orphanet:415286|SCTID:50143004 ORPHA:415286|SNOMEDCT:50143004 http://purl.obolibrary.org/obo/MONDO_0018477 kernicterus spectrum disorder|hyperbilirubinemic encephalopathy|kernicterus ordo_clinical_syndrome MONDO:0018476 dystonia-aphonia syndrome biolink:Disease mondo Orphanet:412217|UMLS:CN237465|ICD10:G24.8 UMLS:CN237465|ORPHA:412217 http://purl.obolibrary.org/obo/MONDO_0018476 ordo_disease MONDO:0018479 congenital adrenal hyperplasia biolink:Disease mondo DOID:0050811|SCTID:237751000|UMLS:C0701163|ICD10:E25|NCIT:C34360|Orphanet:418|ICD10:E25.9|UMLS:C0001627|MESH:D000312|ICD10:E25.0|MedDRA:10010323|GARD:0001467|ICD9:255.2 Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. MEDDRA:10010323|NCIT:C34360|UMLS:C0001627|MESH:D000312|ORPHA:418|DOID:0050811|SNOMEDCT:237751000|UMLS:C0701163 http://purl.obolibrary.org/obo/MONDO_0018479 adrenogenital syndrome|congenital lipoid adrenal hyperplasia|adrenogenital disorder|adrenal hyperplasia, congenital|CAH|lipoid CAH|congenital adrenal gland hyperplasia|adrenal hyperplasia ordo_group_of_disorders HGNC:21528 DIABLO biolink:OntologyClass mondo http://identifiers.org/hgnc/21528 MONDO:0018478 obsolete primary hyperoxaluria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018478 MONDO:0018473 hyperlipoproteinemia type 3 biolink:Disease mondo UMLS:C1862561|DOID:3145|OMIM:617347|MedDRA:10060751|Orphanet:412|UMLS:C0020479|ICD10:E78.2|GARD:0006703|SCTID:398796005 Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease. ORPHA:412|NCIT:C34710|DOID:3145|SNOMEDCT:398796005|http://identifiers.org/omim/617347|MESH:D006952|MEDDRA:10060751|UMLS:C0020479|UMLS:C1862561 http://purl.obolibrary.org/obo/MONDO_0018473 dysbetalipoproteinemia|remnant disease|familial hypercholesterolemia with hyperlipemia|low density lipoprotein cholesterol level quantitative trait locus 5|hyperlipoproteinemia, type III|coronary artery disease, Severe, Susceptibility to|dyslipidemia type 3|familial type 3 hyperlipoproteinemia|dysbetalipoproteinemia due to defect in apolipoprotein E-D|Broad-betalipoproteinemia|familial hypercholesterolaemia with hyperlipaemia|carbohydrate induced hyperlipemia|apolipoprotein E, deficiency or defect of|floating-betalipoproteinemia|hyperlipidemia type 3|familial dysbetalipoproteinemia|hyperlipoproteinemia type III|hyperlipemia with Familial Hypercholesterolemic xanthomatosis|familial Hyperbeta- and Prebetalipoproteinemia|remnant removal disease|familial hyperlipoproteinemia type 3|Broad beta disease|HLP type 3|remnant hyperlipidemia ordo_disease GO:0031175 neuron projection development biolink:OntologyClass mondo The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). http://purl.obolibrary.org/obo/GO_0031175 neurite development|neurite growth|neurite outgrowth|neurite formation|neurite biosynthesis MONDO:0018472 familial isolated trichomegaly biolink:Disease mondo Orphanet:411788|SCTID:764523004 Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. ORPHA:411788|SNOMEDCT:764523004 http://purl.obolibrary.org/obo/MONDO_0018472 ordo_disease MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments biolink:Disease mondo UMLS:CN237461|Orphanet:412066|ICD10:G31.8 UMLS:CN237461|ORPHA:412066 http://purl.obolibrary.org/obo/MONDO_0018475 ordo_disease MONDO:0018474 13q12.3 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|Orphanet:412035|UMLS:CN237459 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. UMLS:CN237459|ORPHA:412035 http://purl.obolibrary.org/obo/MONDO_0018474 Del(13)(q12.3)|monosomy 13q12.3 ordo_malformation_syndrome MONDO:0018460 Eales disease biolink:Disease mondo SCTID:54122009|MedDRA:10057429|MESH:C538011|ICD10:H35.0|UMLS:C0271073|Orphanet:40923|GARD:0006309 Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss. MEDDRA:10057429|SNOMEDCT:54122009|ORPHA:40923|UMLS:C0271073|MESH:C538011 http://purl.obolibrary.org/obo/MONDO_0018460 idiopathic retinal vasculitis|idiopathic retinal perivasculitis|idiopathic obliterative vasculopathy|idiopathic recurrent vitreal hemorrhage gard_rare|ordo_disease MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells biolink:Disease mondo UMLS:C2007059|DOID:7718|EFO:1000607|NCIT:C5723 A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells. DOID:7718|UMLS:C2007059|NCIT:C5723 http://purl.obolibrary.org/obo/MONDO_0006479 osteoclast-like giant cell neoplasm of pancreas|undifferentiated pancreatic carcinoma with osteoclast-like giant cells|osteoclast-like giant cell neoplasm of the pancreas|pancreatic osteoclast-like giant cell carcinoma MONDO:0006477 undifferentiated ovarian carcinoma biolink:Disease mondo SCTID:254856004|UMLS:C0346167|EFO:1000605|NCIT:C4509 An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor. SNOMEDCT:254856004|NCIT:C4509|UMLS:C0346167 http://purl.obolibrary.org/obo/MONDO_0006477 undifferentiated carcinoma of the ovary|ovary undifferentiated carcinoma|undifferentiated carcinoma of ovary|anaplastic carcinoma of the ovary|anaplastic carcinoma of ovary|ovarian undifferentiated carcinoma|anaplastic ovarian carcinoma|undifferentiated ovarian carcinoma|ovarian undifferentiated carcinoma|undifferentiated ovarian cancer MONDO:0006478 undifferentiated pancreatic carcinoma biolink:Disease mondo UMLS:C1336861|NCIT:C5722|EFO:1000606|ONCOTREE:UCP A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells. UMLS:C1336861|NCIT:C5722 http://purl.obolibrary.org/obo/MONDO_0006478 spindle cell pancreatic carcinoma|undifferentiated carcinoma of pancreas|undifferentiated carcinoma of the pancreas|pancreas undifferentiated carcinoma|sarcomatoid pancreatic carcinoma|undifferentiated (anaplastic) pancreatic carcinoma|undifferentiated pancreatic carcinoma|pleomorphic large cell pancreatic carcinoma|pancreatic carcinosarcoma|UCP MONDO:0043465 achlorhydria biolink:Disease mondo MESH:D000126|NCIT:C2850|SCTID:47481007 Absence of hydrochloric acid in the gastric juice. NCIT:C2850|MESH:D000126|SNOMEDCT:47481007 http://purl.obolibrary.org/obo/MONDO_0043465 absent gastric acidity|hypochlorhydria|achylia gastrica|gastric anacidity|achlorhydria MONDO:0043468 acne keloid biolink:Disease mondo UMLS:C0001145|NCIT:C34346|SCTID:238746008|EFO:1001256|MESH:D000153 A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent. UMLS:C0001145|MESH:D000153|NCIT:C34346|SNOMEDCT:238746008 http://purl.obolibrary.org/obo/MONDO_0043468 papillaris Capillitius, dermatitis|Keloidalis nuchae, lichen|folliculitis Keloidalis nuchae|dermatitis papillaris Capillitii|acne, keloidal|acne keloid|lichen Keloidalis nuchae|nuchae, lichen Keloidalis|folliculitis Keloidalis|keloidal Acnes|keloid Acnes, nuchal|keloid acne, nuchal|keloidal folliculitis|nuchal keloid Acnes|Capillitii, dermatitis papillaris|nuchae, folliculitis Keloidalis|nuchal keloid acne|Capillitius, dermatitis papillaris|keloids, acne|Keloidalis nuchae, folliculitis|keloidal acne|dermatitis papillaris Capillitius|keloid, acne|papillaris Capillitii, dermatitis|acne keloids|acne Keloidalis|acne, nuchal keloid|Acnes, nuchal keloid MONDO:0006475 unclassified renal cell carcinoma biolink:Disease mondo UMLS:C1336853|ONCOTREE:URCC|EFO:1000603|NCIT:C27892 A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. NCIT:C27892|UMLS:C1336853 http://purl.obolibrary.org/obo/MONDO_0006475 URCC|unclassified renal cell cancer|unclassified renal cell carcinoma MONDO:0006476 undifferentiated gallbladder carcinoma biolink:Disease mondo UMLS:C0279653|EFO:1000604|NCIT:C9167 A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma. NCIT:C9167|UMLS:C0279653 http://purl.obolibrary.org/obo/MONDO_0006476 undifferentiated gallbladder carcinoma|gallbladder undifferentiated carcinoma|gall bladder undifferentiated carcinoma|gallbladder undifferentiated carcinoma|undifferentiated gallbladder cancer|undifferentiated carcinoma of the gallbladder|undifferentiated carcinoma of gallbladder|anaplastic carcinoma of the gallbladder|anaplastic carcinoma of gallbladder|anaplastic gallbladder carcinoma MONDO:0006473 obsolete tracheal squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006473 MONDO:0006474 transitional cell carcinoma biolink:Disease mondo MESH:D002295|DOID:2671|UMLS:C0007138|NCIT:C2930|GARD:0007794|EFO:1000601|ICDO:8120/3 A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. NCIT:C2930|UMLS:C0007138|DOID:2671|MESH:D002295 http://purl.obolibrary.org/obo/MONDO_0006474 transitional cell neoplasm|transitional carcinoma|carcinoma of urothelial cell|carcinoma of transitional epithelial cell|urothelial cell carcinoma|transitional cell tumor|carcinoma, urothelial, malignant|transitional epithelial cell carcinoma|transitional cell carcinoma gard_rare MONDO:0006471 tracheal adenoid cystic carcinoma biolink:Disease mondo DOID:4875|SCTID:254619006|UMLS:C0345945|NCIT:C6051|EFO:1000598 An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes. UMLS:C0345945|SNOMEDCT:254619006|NCIT:C6051|DOID:4875 http://purl.obolibrary.org/obo/MONDO_0006471 trachea adenoid cystic carcinoma|adenoid cystic carcinoma of the trachea|tracheal adenoid cystic carcinoma|adenoid cystic carcinoma of trachea MONDO:0006472 obsolete tracheal carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006472 MONDO:0006470 tonsillar squamous cell carcinoma biolink:Disease mondo NCIT:C8183|UMLS:C0280317|EFO:1000597 A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass. NCIT:C8183|UMLS:C0280317 http://purl.obolibrary.org/obo/MONDO_0006470 palatine tonsil squamous cell carcinoma|tonsil scc|squamous cell carcinoma of tonsil|squamous cell carcinoma of the tonsil|scc of tonsil|scc of the tonsil|tonsillar scc NCBITaxon:194 Campylobacter organism taxon mondo PMID:12361288|PMID:1704793|PMID:19801389|PMID:16627635|PMID:29034857|PMID:11542086|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_194 MONDO:0043459 radiation-induced disorder biolink:Disease mondo Orphanet:521132|MESH:D000016|SCTID:85983004|NCIT:C26684|UMLS:C1527225 A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. NCIT:C26684|ORPHA:521132|UMLS:C1527225|MESH:D000016|SNOMEDCT:85983004 http://purl.obolibrary.org/obo/MONDO_0043459 radiation-induced Abnormality|Abnormality, radiation-induced|abnormalities, radiation induced|radiation induced abnormalities|radiation-induced abnormalities|radiation-induced disorder ordo_group_of_disorders MONDO:0043458 radiation injury biolink:Disease mondo MESH:D011832|UMLS:C0034535 Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES. UMLS:C0034535|MESH:D011832 http://purl.obolibrary.org/obo/MONDO_0043458 syndromes, radiation|radiation injury|Sicknesses, radiation|sickness, radiation|Injuries, radiation|injury, radiation|radiation sickness|radiation syndromes|radiation Sicknesses|radiation syndrome|syndrome, radiation MONDO:0018469 pulmonary non-tuberculous mycobacterial infection biolink:Disease mondo Orphanet:411703|ICD10:A31.0|GARD:0012829|UMLS:CN237452 ORPHA:411703|UMLS:CN237452 http://purl.obolibrary.org/obo/MONDO_0018469 nontuberculous mycobacterial lung disease|non-tuberculous mycobacterial lung disease ordo_disease NCBITaxon:196 Campylobacter fetus organism taxon mondo GC_ID:11|PMID:1354478|PMID:11321120 http://purl.obolibrary.org/obo/NCBITaxon_196 Spirillum fetus|Vibrio fetus MONDO:0018466 hereditary late onset Parkinson disease biolink:Disease mondo Orphanet:411602|SCTID:716662004|DOID:0060892|ICD10:G20 Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID). ORPHA:411602|SNOMEDCT:716662004|DOID:0060892 http://purl.obolibrary.org/obo/MONDO_0018466 autosomal dominant late-onset Parkinson disease|late onset Parkinson disease|late onset Parkinson's disease|late-onset Parkinson disease|hereditary late-onset Parkinson disease|LOPD ordo_disease MONDO:0018465 insulin autoimmune syndrome biolink:Disease mondo SCTID:408539000|ICD10:E16.1|GARD:0010808|DOID:0040100|UMLS:C0854359|Orphanet:411593|ICD9:279.49 Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood. ORPHA:411593|UMLS:C0854359|SNOMEDCT:408539000|DOID:0040100 http://purl.obolibrary.org/obo/MONDO_0018465 insulin autoimmune hypoglycemia|Hirata disease gard_rare|ordo_disease MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia biolink:Disease mondo ICD10:K20|Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy. ORPHA:411696 http://purl.obolibrary.org/obo/MONDO_0018468 PPI-REE|PPI-responsive esophageal eosinophilia|PPIRee ordo_disease MONDO:0018467 nephropathic infantile cystinosis biolink:Disease mondo Orphanet:411629|MONDO:0009065|ICD10:N16.3*|ICD10:E72.0+ Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. ORPHA:411629 http://purl.obolibrary.org/obo/MONDO_0018467 cystinosin, defect of|lysosomal cystine transport protein, defect of|CTNS|cystinosis, infantile nephropathic|cystinosis, atypical nephropathic ordo_clinical_subtype MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 biolink:Disease mondo Orphanet:411515|ICD10:Q93.5|UMLS:CN237442 ORPHA:411515|UMLS:CN237442 http://purl.obolibrary.org/obo/MONDO_0018462 ordo_etiological_subtype MONDO:0018461 Angelman syndrome due to a point mutation biolink:Disease mondo Orphanet:411511|UMLS:CN237441|ICD10:Q93.5 ORPHA:411511|UMLS:CN237441 http://purl.obolibrary.org/obo/MONDO_0018461 ordo_etiological_subtype MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity biolink:Disease mondo UMLS:CN237444|Orphanet:411543|ICD10:E79.8 Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. ORPHA:411543|UMLS:CN237444 http://purl.obolibrary.org/obo/MONDO_0018464 severe PRPP synthetase superactivity|severe PRPS1 superactivity ordo_clinical_subtype MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity biolink:Disease mondo ICD10:E79.8|Orphanet:411536|UMLS:CN237443 Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. ORPHA:411536|UMLS:CN237443 http://purl.obolibrary.org/obo/MONDO_0018463 mild PRPP synthetase superactivity|mild PRPS1 superactivity ordo_clinical_subtype UBERON:0015083 proximal tarsal bone pre-cartilage condensation biolink:AnatomicalEntity mondo A proximal tarsal endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0015083 UBERON:0015082 proximal tarsal cartilage biolink:AnatomicalEntity mondo A proximal tarsal endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0015082 MONDO:0006488 vaginal carcinosarcoma biolink:Disease mondo NCIT:C40278|UMLS:C1519918|EFO:1000618|DOID:136 An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component. DOID:136|UMLS:C1519918|NCIT:C40278 http://purl.obolibrary.org/obo/MONDO_0006488 vaginal malignant mixed mesodermal (Mullerian) tumor|vaginal malignant mixed Mullerian tumor|vaginal carcinosarcoma|malignant vaginal mixed epithelial and mesenchymal tumor|vaginal malignant mixed mesodermal (Müllerian) tumor|vaginal mixed epithelial and mesenchymal tumor MONDO:0006489 vaginal melanoma biolink:Disease mondo ONCOTREE:VMM|EFO:1000619|NCIT:C27394|UMLS:C2004576 A primary malignant neoplasm of the vagina composed of malignant melanocytes. NCIT:C27394|UMLS:C2004576 http://purl.obolibrary.org/obo/MONDO_0006489 vagina melanoma|melanoma (disease) of vagina|melanoma of vagina|melanoma of the vagina|vagina melanoma (disease)|mucosal melanoma of the vulva/vagina|vaginal melanoma GO:0045700 regulation of spermatid nuclear differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of spermatid nuclear differentiation. http://purl.obolibrary.org/obo/GO_0045700 MONDO:0006486 uveal melanoma biolink:Disease mondo UMLS:C0220633|GARD:0008621|DOID:6039|ICD10:C69.3|MESH:C536494|EFO:1000616|NCIT:C7712|MedDRA:10061252|Orphanet:39044|ONCOTREE:UM A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B. ORPHA:39044|MESH:C536494|MEDDRA:10061252|NCIT:C7712|UMLS:C0220633|UMLS:C0346373|DOID:6039 http://purl.obolibrary.org/obo/MONDO_0006486 choroidal melanoma|intraocular melanoma|melanoma of the uvea|uvea melanoma (disease)|melanoma (disease) of uvea|melanoma of uvea|melanoma, uveal, malignant|uveal melanoma|iris melanoma|uvea melanoma ordo_disease MONDO:0043479 adenoviridae infectious disease biolink:Disease mondo MESH:D000257|NCIT:C115149|SCTID:25225006|UMLS:C0001486 An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. SNOMEDCT:25225006|UMLS:C0001486|MESH:D000257|NCIT:C115149 http://purl.obolibrary.org/obo/MONDO_0043479 Adenoviridae disease or disorder|infection, Adenoviridae|infection, adenovirus|infections, Adenoviridae|infections, adenovirus|Adenoviridae infection|disease due to adenovirus|disease caused by adenovirus|Adenoviridae infectious disease|adenoviridae infectious disease|Adenoviridae caused disease or disorder|adenovirus infection|adenovirus infections MONDO:0006487 vaginal adenoid cystic carcinoma biolink:Disease mondo EFO:1000617|NCIT:C40261|UMLS:C1519912 An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present. UMLS:C1519912|NCIT:C40261 http://purl.obolibrary.org/obo/MONDO_0006487 vaginal adenoid cystic carcinoma|vaginal adenoid cystic cancer MONDO:0006484 usual ductal breast hyperplasia biolink:Disease mondo ICD9:611.89|NCIT:C27941|SCTID:472905007|EFO:1000612|UMLS:C3532429 A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells. NCIT:C27941|UMLS:C3532429|SNOMEDCT:472905007 http://purl.obolibrary.org/obo/MONDO_0006484 ductal breast hyperplasia of usual type|ordinary intraductal breast hyperplasia|UDH MONDO:0043472 ectopic ACTH secretion syndrome biolink:Disease mondo NCIT:C4387|SCTID:626004|MESH:D000182|UMLS:C0001231 A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott) SNOMEDCT:626004|UMLS:C0001231|MESH:D000182|NCIT:C4387 http://purl.obolibrary.org/obo/MONDO_0043472 ectopic ACTH syndrome|ectopic ACTH secretion causing Cushing's syndrome|ectopic ACTH syndromes|ACTH syndromes, ectopic|hypercortisolism due to nonpituitary tumor|ectopic ACTH secretion syndrome|ectopic ACTH secretion|syndromes, ectopic ACTH|syndrome, ectopic ACTH MONDO:0006485 uterine carcinosarcoma biolink:Disease mondo ONCOTREE:UCS|UMLS:C0280630|EFO:1000613|MESH:D012192|NCIT:C42700|DOID:6171|SCTID:702369008 A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. MESH:D012192|UMLS:C0280630|NCIT:C42700|DOID:6171|SNOMEDCT:702369008 http://purl.obolibrary.org/obo/MONDO_0006485 mixed mullerian sarcoma of uterus|uterine carcinosarcoma/uterine malignant mixed mullerian tumor|uterine malignant mixed mesodermal (Mullerian) tumor|carcinosarcoma of the uterus|malignant mixed mesodermal (Müllerian) tumor of the uterus|uterine carcinosarcoma|uterine malignant mixed mesodermal (Müllerian) tumor|malignant mixed mesodermal (Mullerian) tumor of the uterus|uterus carcinosarcoma MONDO:0043475 Adams-Stokes syndrome biolink:Disease mondo UMLS:C0001396|NCIT:C79765|EFO:1001259|SCTID:46935006|MESH:D000219 An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery. NCIT:C79765|UMLS:C0001396|MESH:D000219|SNOMEDCT:46935006 http://purl.obolibrary.org/obo/MONDO_0043475 syndrome, Adams-Stokes|syndrome, Stokes-Adams|Adam Stokes attacks|Stokes-Adams syndrome|Adam-Stokes attacks|Stokes Adams syndrome|attacks, Stokes-Adams|Stokes-Adams-morgagni syndrome|Stokes-Adams attacks|attacks, Adam-Stokes|Stokes Adams attacks|Adams Stokes syndrome MONDO:0006482 ureter small cell carcinoma biolink:Disease mondo DOID:6886|NCIT:C6176|UMLS:C1336878|EFO:1000610 A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor. NCIT:C6176|UMLS:C1336878|DOID:6886 http://purl.obolibrary.org/obo/MONDO_0006482 small cell carcinoma of ureter|small cell carcinoma of the ureter|ureter small cell carcinoma|ureteral small cell carcinoma MONDO:0006483 urothelial dysplasia biolink:Disease mondo NCIT:C39856|EFO:1000611|UMLS:C1275859 A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract. UMLS:C1275859|NCIT:C39856 http://purl.obolibrary.org/obo/MONDO_0006483 transitional cell dysplasia of the urinary tract|urothelial dysplasia MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant biolink:Disease mondo EFO:1000608|DOID:6192|UMLS:C1334180|NCIT:C6497 An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells. NCIT:C6497|UMLS:C1334180|DOID:6192 http://purl.obolibrary.org/obo/MONDO_0006480 undifferentiated pleomorphic sarcoma, inflammatory variant|Xanthosarcoma|malignant xanthogranuloma|inflammatory malignant fibrous histiocytoma|inflammatory MFH MONDO:0006481 ureter carcinoma biolink:Disease mondo EFO:1000609|NCIT:C8993|DOID:4939|SCTID:448864006|UMLS:C0600079 A carcinoma that arises from epithelial cells of the ureter. SNOMEDCT:448864006|DOID:4939|NCIT:C8993|UMLS:C0600079 http://purl.obolibrary.org/obo/MONDO_0006481 carcinoma of ureter|carcinoma of the ureter|ureter carcinoma|ureteral carcinoma|ureter cancer MONDO:0018459 isolated glycerol kinase deficiency biolink:Disease mondo Orphanet:408|GARD:0002807|ICD10:E74.8 Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ). MESH:C538138|ORPHA:408|UMLS:C0574108 http://purl.obolibrary.org/obo/MONDO_0018459 nonsyndromic inborn glycerol kinase deficiency|hyperglycerolemia|nonsyndromic glycerol kinase deficiency|isolated inborn glycerol kinase deficiency ordo_disease MONDO:0018458 familial hypocalciuric hypercalcemia biolink:Disease mondo OMIMPS:145980|UMLS:C1809471|DOID:0060699|GARD:0010828|NCIT:C123262|ICD10:E83.5|UMLS:C0342637|SCTID:237885008|Orphanet:405 Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. SNOMEDCT:237885008|ORPHA:405|UMLS:C1809471|UMLS:C0342637|DOID:0060699|NCIT:C123262 http://purl.obolibrary.org/obo/MONDO_0018458 FHH|hypocalciuric hypercalcemia|familial benign hypercalcemia|familial benign hypocalciuric hypercalcemia|FBHH|FBH ordo_disease GO:0045701 negative regulation of spermatid nuclear differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of spermatid nuclear differentiation. http://purl.obolibrary.org/obo/GO_0045701 down regulation of spermatid nuclear differentiation|downregulation of spermatid nuclear differentiation|inhibition of spermatid nuclear differentiation|down-regulation of spermatid nuclear differentiation GO:0045702 positive regulation of spermatid nuclear differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of spermatid nuclear differentiation. http://purl.obolibrary.org/obo/GO_0045702 up-regulation of spermatid nuclear differentiation|up regulation of spermatid nuclear differentiation|activation of spermatid nuclear differentiation|stimulation of spermatid nuclear differentiation|upregulation of spermatid nuclear differentiation MONDO:0018455 dysostosis of genetic origin with limb anomaly as a major feature biolink:Disease mondo Orphanet:404571 ORPHA:404571 http://purl.obolibrary.org/obo/MONDO_0018455 obsoletion_candidate|ordo_group_of_disorders HGNC:21504 PRY2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21504 MONDO:0018454 dysostosis of genetic origin biolink:Disease mondo Orphanet:404568 An instance of dysostosis that is caused by a modification of the individual's genome. ORPHA:404568 http://purl.obolibrary.org/obo/MONDO_0018454 genetic dysostosis ordo_group_of_disorders MONDO:0018457 rare genetic bone development disorder biolink:Disease mondo Orphanet:404584|UMLS:CN227376 UMLS:CN227376|ORPHA:404584 http://purl.obolibrary.org/obo/MONDO_0018457 rare genetic skeletal development disorder obsoletion_candidate|ordo_group_of_disorders UBERON:0015081 proximal tarsal endochondral element biolink:AnatomicalEntity mondo A proximal mesopodial endochondral element that is part of a hindlimb. http://purl.obolibrary.org/obo/UBERON_0015081 proximal tarsal MONDO:0018456 polyarticular juvenile idiopathic arthritis biolink:Disease mondo SCTID:16044751000119106|Orphanet:404580|EFO:1002020 SNOMEDCT:16044751000119106|ORPHA:404580 http://purl.obolibrary.org/obo/MONDO_0018456 polyarticular JIA|juvenile polyarticular arthritis|juvenile polyarthritis ordo_group_of_disorders UBERON:0015080 proximal carpal bone pre-cartilage condensation biolink:AnatomicalEntity mondo A proximal carpal endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0015080 MONDO:0018451 X-linked distal hereditary motor neuropathy biolink:Disease mondo Orphanet:404538|ICD10:G12.2 X-linked form of distal hereditary motor neuropathy. ORPHA:404538 http://purl.obolibrary.org/obo/MONDO_0018451 distal hereditary motor neuropathy, X-linked|X-linked dHMN|X-linked distal spinal muscular atrophy ordo_group_of_disorders MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 biolink:Disease mondo Orphanet:404521|UMLS:CN226195|ICD10:G12.2 Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. ORPHA:404521|UMLS:CN226195 http://purl.obolibrary.org/obo/MONDO_0018450 SMARD2|X-linked spinal muscular atrophy with respiratory distress|severe infantile axonal neuropathy with respiratory failure type 2|diaphragmatic spinal muscular atrophy type 2 ordo_disease MONDO:0018453 familial atypical multiple mole melanoma syndrome biolink:Disease mondo Orphanet:404560|NCIT:C27264|ICD10:D22.9 NCIT:C27264|ORPHA:404560 http://purl.obolibrary.org/obo/MONDO_0018453 FAMM-PC syndrome|familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|familial atypical mole syndrome|B-K mole syndrome|familial Clark nevus syndrome|melanoma-pancreatic cancer syndrome|familial atypical mole melanoma syndrome|familial dysplastic nevus syndrome|FAMMM syndrome|FAMM syndrome ordo_disease MONDO:0018452 deficiency of the interleukin-36 receptor antagonist biolink:Disease mondo ICD10:L40.1|Orphanet:404546|NCIT:C119057|UMLS:CN226196 An autoinflammatory disease caused by mutations in the IL36RN gene, which encodes the IL36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash. UMLS:CN226196|ORPHA:404546|NCIT:C119057 http://purl.obolibrary.org/obo/MONDO_0018452 deficiency of the Interleukin-36 receptor antagonist|deficiency of IL-36Ra|DITRA|deficiency of IL-36R antagonist|familial generalized pustular psoriasis|PSORP ordo_disease HP:0040214 Abnormal insulin level biolink:PhenotypicFeature mondo UMLS:C4073160 An abnormal concentration of insulin in the body. http://purl.obolibrary.org/obo/HP_0040214 HP:0040215 Abnormal circulating insulin level biolink:PhenotypicFeature mondo UMLS:C4073161 An abnormal concentration of insulin in the blood. http://purl.obolibrary.org/obo/HP_0040215 NCBITaxon:452563 Cladosporiaceae organism taxon mondo GC_ID:1|PMID:17486979 http://purl.obolibrary.org/obo/NCBITaxon_452563 Davidiellaceae GO:0045717 negative regulation of fatty acid biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. http://purl.obolibrary.org/obo/GO_0045717 down regulation of fatty acid biosynthetic process|inhibition of fatty acid biosynthetic process|downregulation of fatty acid biosynthetic process|negative regulation of fatty acid anabolism|negative regulation of fatty acid synthesis|negative regulation of fatty acid biosynthesis|down-regulation of fatty acid biosynthetic process|negative regulation of fatty acid formation HP:0030895 Abnormal gastrointestinal motility biolink:PhenotypicFeature mondo An anomaly of the muscular contractions that propel food though the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0030895 Abnormal GI motility HP:0040211 Abnormal skin morphology of the palm biolink:PhenotypicFeature mondo UMLS:C4073159 An abnormality of the skin of the palm, that is, the skin of the front of the hand. http://purl.obolibrary.org/obo/HP_0040211 GO:0045721 negative regulation of gluconeogenesis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. http://purl.obolibrary.org/obo/GO_0045721 inhibition of gluconeogenesis|downregulation of gluconeogenesis|down-regulation of gluconeogenesis|down regulation of gluconeogenesis GO:0045722 positive regulation of gluconeogenesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of gluconeogenesis. http://purl.obolibrary.org/obo/GO_0045722 up-regulation of gluconeogenesis|up regulation of gluconeogenesis|activation of gluconeogenesis|stimulation of gluconeogenesis|upregulation of gluconeogenesis GO:0045727 positive regulation of translation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. http://purl.obolibrary.org/obo/GO_0045727 positive regulation of protein formation|upregulation of protein biosynthetic process|positive regulation of protein biosynthesis|positive regulation of protein biosynthetic process|stimulation of protein biosynthetic process|up regulation of protein biosynthetic process|positive regulation of protein anabolism|up-regulation of protein biosynthetic process|activation of protein biosynthetic process|positive regulation of protein synthesis GO:0045723 positive regulation of fatty acid biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. http://purl.obolibrary.org/obo/GO_0045723 up-regulation of fatty acid biosynthetic process|up regulation of fatty acid biosynthetic process|activation of fatty acid biosynthetic process|positive regulation of fatty acid biosynthesis|positive regulation of fatty acid anabolism|stimulation of fatty acid biosynthetic process|upregulation of fatty acid biosynthetic process|positive regulation of fatty acid synthesis|positive regulation of fatty acid formation GO:0045724 positive regulation of cilium assembly biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the formation of a cilium. http://purl.obolibrary.org/obo/GO_0045724 up-regulation of cilium assembly|positive regulation of flagellum biogenesis|positive regulation of flagellum assembly|up regulation of cilium assembly|activation of cilium assembly|stimulation of cilium assembly|upregulation of cilium assembly GO:0031128 developmental induction biolink:OntologyClass mondo A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). http://purl.obolibrary.org/obo/GO_0031128 FOODON:03400260 nut or nut product (us cfr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0260 Nuts in all forms, including nut butters and pastes. http://purl.obolibrary.org/obo/FOODON_03400260 MONDO:0043424 digestive system infectious disease biolink:Disease mondo SCTID:715852004|NCIT:C35503 A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system. SNOMEDCT:715852004|NCIT:C35503 http://purl.obolibrary.org/obo/MONDO_0043424 infection of gastrointestinal tract|gastrointestinal system infection|gastrointestinal infection|digestive system infection GO:0006164 purine nucleotide biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0006164 purine nucleotide anabolism|purine nucleotide synthesis|purine nucleotide biosynthesis|purine nucleotide formation GO:0006165 nucleoside diphosphate phosphorylation biolink:OntologyClass mondo The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate. http://purl.obolibrary.org/obo/GO_0006165 GO:0006163 purine nucleotide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0006163 purine metabolism|purine metabolic process|purine nucleotide metabolism GO:0045738 negative regulation of DNA repair biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of DNA repair. http://purl.obolibrary.org/obo/GO_0045738 down regulation of DNA repair|inhibition of DNA repair|down-regulation of DNA repair|downregulation of DNA repair FOODON:03400267 seafood or seafood product (us cfr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0267 Flesh from fish or shellfish. Includes seafood product analogs and seafood-based sausage or luncheon meat as well as such products as squid ink and clam juice. http://purl.obolibrary.org/obo/FOODON_03400267 GO:0045739 positive regulation of DNA repair biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of DNA repair. http://purl.obolibrary.org/obo/GO_0045739 upregulation of DNA repair|up regulation of DNA repair|stimulation of DNA repair|activation of DNA repair|up-regulation of DNA repair MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency biolink:Disease mondo SCTID:303098002|Orphanet:422519|ICD9:270.7|UMLS:C0580190 SNOMEDCT:303098002|UMLS:C0580190|ORPHA:422519 http://purl.obolibrary.org/obo/MONDO_0018491 ordo_group_of_disorders MONDO:0018490 cono-spondylar dysplasia biolink:Disease mondo UMLS:CN237491|SCTID:766874001|ICD10:Q77.7|Orphanet:420794 Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. ORPHA:420794|SNOMEDCT:766874001|UMLS:CN237491 http://purl.obolibrary.org/obo/MONDO_0018490 short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome ordo_malformation_syndrome MONDO:0018493 malignant hyperthermia of anesthesia biolink:Disease mondo DOID:8545|MedDRA:10020844|SCTID:405501007|UMLS:C0024591|HP:0002047|ICD10:T88.3|OMIMPS:145600|MESH:D008305|ICD9:995.86|NCIT:C84869|Orphanet:423 Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat. MEDDRA:10020844|NCIT:C84869|DOID:8545|MESH:D008305|ORPHA:423|SNOMEDCT:405501007|UMLS:C0024591 http://purl.obolibrary.org/obo/MONDO_0018493 malignant hyperpyrexia due to anesthesia|hyperthermia of anesthesia|malignant hyperpyrexia|malignant hyperthermia syndrome|anesthesia related hyperthermia|malignant hyperthermia ordo_disease|clingen MONDO:0018492 hereditary clear cell renal cell carcinoma biolink:Disease mondo NCIT:C36260|SCTID:764961009|UMLS:CN237493|Orphanet:422526|DOID:7192|ICD10:C64 A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. DOID:7192|NCIT:C36260|SNOMEDCT:764961009|UMLS:CN237493|ORPHA:422526 http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell adenocarcinoma|hereditary conventional (clear cell) renal cell carcinoma|Hereditary clear cell renal cell cancer|hereditary clear cell renal carcinoma|hereditary clear cell renal cell carcinoma|hereditary conventional renal cell carcinoma ordo_disease MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy biolink:Disease mondo ICD10:Q24.8|Orphanet:423712 ORPHA:423712 http://purl.obolibrary.org/obo/MONDO_0018499 DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy ordo_clinical_subtype MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect biolink:Disease mondo ICD10:Q20.1|Orphanet:423693 ORPHA:423693 http://purl.obolibrary.org/obo/MONDO_0018498 DORV with subaortic or doubly committed VSD ordo_clinical_subtype MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome biolink:Disease mondo ICD10:E79.8|UMLS:CN237501|Orphanet:423479 #945;-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. ORPHA:423479|UMLS:CN237501 http://purl.obolibrary.org/obo/MONDO_0018495 ordo_disease MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome biolink:Disease mondo UMLS:CN237496|ICD10:Q87.1|Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. ORPHA:423306|UMLS:CN237496 http://purl.obolibrary.org/obo/MONDO_0018494 ordo_malformation_syndrome MONDO:0018497 obsolete rare autonomic nervous system disorder biolink:Disease mondo Orphanet:423662 Rare autonomic nervous system disease. ORPHA:423662 http://purl.obolibrary.org/obo/MONDO_0018497 rare autonomic nervous system disease ordo_group_of_disorders|obsoletion_candidate MONDO:0018496 ARX-related encephalopathy-brain malformation spectrum biolink:Disease mondo Orphanet:423655 ORPHA:423655 http://purl.obolibrary.org/obo/MONDO_0018496 ordo_group_of_disorders UBERON:0015152 gland of ocular region biolink:AnatomicalEntity mondo A gland that is typically found in or near the orbital region, in or around either the medial or lateral canthi, and is typically associated with secretions onto the eyeball or associated ducts. Includes the Harderian, nictitans and lacrimal glands. http://purl.obolibrary.org/obo/UBERON_0015152 orbital gland|ocular gland UBERON:0015155 conjunctival space biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a conjunctiva. http://purl.obolibrary.org/obo/UBERON_0015155 conjunctival sac cavity|subbrillar space|subconjunctival space|cavity of conjunctival sac MONDO:0006538 obsolete dermatitis herpetiformis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006538 MONDO:0006539 diffuse lipomatosis biolink:Disease mondo UMLS:C1333298|DOID:3923|NCIT:C6504|EFO:1000687 A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy. DOID:3923|NCIT:C6504|UMLS:C1333298 http://purl.obolibrary.org/obo/MONDO_0006539 diffuse lipomatosis UBERON:0015154 lateral gland of orbital region biolink:AnatomicalEntity mondo A gland that is located in or around the ocular region, nearer the outer canthi. http://purl.obolibrary.org/obo/UBERON_0015154 lateral ocular gland|lateral orbital gland MONDO:0006536 congenital generalized lipodystrophy (disease) biolink:Disease mondo DOID:0050585|EFO:1000681|SCTID:284449005|OMIMPS:608594|HP:0009059 An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. DOID:0050585|SNOMEDCT:284449005 http://purl.obolibrary.org/obo/MONDO_0006536 lipodystrophy, congenital generalized|familial generalized lipodystrophy|Beradinelli-Seip syndrome|congenital generalized lipodystrophy|hereditary generalized lipodystrophy MONDO:0006537 conjunctival pigmentation biolink:Disease mondo DOID:12304|SCTID:66081003|UMLS:C0155163|ICD9:372.55|EFO:1000682|ICD10:H11.13|COHD:381014 Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron. UMLS:C0155163|DOID:12304|SNOMEDCT:66081003 http://purl.obolibrary.org/obo/MONDO_0006537 MONDO:0006534 cholinergic urticaria biolink:Disease mondo UMLS:C0152230|COHD:138501|Wikipedia:Cholinergic_urticaria|EFO:1000679|ICD9:708.5|SCTID:73098005|ICD10:L50.5|DOID:14443 A type of physical urticarias (or hives) that appears when a person is sweating. DOID:14443|UMLS:C0152230|SNOMEDCT:73098005 http://purl.obolibrary.org/obo/MONDO_0006534 UBERON:0015150 dorsal hair biolink:AnatomicalEntity mondo A strand of hair that is part of a dorsum. http://purl.obolibrary.org/obo/UBERON_0015150 back hair|dorsal coat hair|hair of back MONDO:0006535 obsolete cicatricial pemphigoid biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006535 MONDO:0006532 cholesteatoma of external ear biolink:Disease mondo COHD:378434|UMLS:C0155398|SCTID:35247001|ICD10:H60.4|ICD9:380.21|EFO:1000677|ICD10:H60.40|DOID:9462 A cholesteatoma (disease) that involves the external ear. UMLS:C0155398|SNOMEDCT:35247001|DOID:9462 http://purl.obolibrary.org/obo/MONDO_0006532 cholesteatoma (disease) of external ear|external canal cholesteatoma|external ear cholesteatoma (disease) MONDO:0006533 cholesteatoma of middle ear biolink:Disease mondo ICD10:H71|SCTID:194339007|ICD9:385.33|DOID:10964|NCIT:C3654|ICD9:385.3|ICD9:385.32|EFO:1000678|MESH:D018424|UMLS:C0155490|COHD:381585 A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear. MESH:D018424|UMLS:C0155490|NCIT:C3654|DOID:10964|SNOMEDCT:194339007 http://purl.obolibrary.org/obo/MONDO_0006533 cholesteatoma of middle ear and/or mastoid|Epidermosis of middle ear|unspecified cholesteatoma (morphologic abnormality)|middle ear cholesteatoma|cholesteatoma (disease) of middle ear|cholesteatoma of the middle ear|Epidermosis of ear|cholesteatoma of middle ear|middle ear cholesteatoma (disease)|cholesteatoma|cholesteatoma of middle ear and mastoid MONDO:0006530 cholesteatoma (disease) biolink:Disease mondo SCTID:363668000|COHD:372925|DOID:869|UMLS:C0008373|ICD10:H71.9|ICD9:385.30|MESH:D002781|HP:0009797|EFO:1000675|NCIT:C2944|GARD:0010422|ICD10:H71.90 A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures. SNOMEDCT:363668000|MESH:D002781|NCIT:C2944|UMLS:C0008373|DOID:869 http://purl.obolibrary.org/obo/MONDO_0006530 congenital cholesteatoma (type)|cholesteatoma|secondary acquired cholesteatoma (type)|primary acquired cholesteatoma (type) HP:0030850 Abnormal pulse pressure biolink:PhenotypicFeature mondo UMLS:C0855322 An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. http://purl.obolibrary.org/obo/HP_0030850 MONDO:0006531 cholesteatoma of attic biolink:Disease mondo ICD10:H71.00|ICD9:385.31|UMLS:C0155489|COHD:258441|DOID:10963|EFO:1000676|ICD10:H71.0|SCTID:38708003 A cholesteatoma in the attic SNOMEDCT:38708003|UMLS:C0155489|DOID:10963 http://purl.obolibrary.org/obo/MONDO_0006531 HP:0003225 Reduced coagulation factor V activity biolink:PhenotypicFeature mondo SNOMEDCT_US:4320005|SNOMEDCT_US:88776002|MSH:D005166|UMLS:C0015499 Decreased activity of coagulation factor V. http://purl.obolibrary.org/obo/HP_0003225 Factor V deficiency|Reduced factor V activity MONDO:0018529 qualitative or quantitative defects of Torsin-1A-interacting protein 1 biolink:Disease mondo Orphanet:424925 ORPHA:424925 http://purl.obolibrary.org/obo/MONDO_0018529 qualitative or quantitative defects of Torsin-1A-interacting protein type 1 ordo_group_of_disorders MONDO:0018528 congenital myopathy with myasthenic-like onset biolink:Disease mondo SCTID:763315005|Orphanet:424107|ICD10:G71.2 Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. SNOMEDCT:763315005|ORPHA:424107 http://purl.obolibrary.org/obo/MONDO_0018528 ordo_disease MONDO:0018525 solid pseudopapillary carcinoma of pancreas biolink:Disease mondo ICD10:C25.2|UMLS:C1336029|ICD10:C25.1|ICD10:C25.0|Orphanet:424065|DOID:6827|NCIT:C5728|ICD10:C25.8|ICD10:C25.7|ICDO:8452/3|EFO:1000542 A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues. UMLS:C1336029|NCIT:C5728|ORPHA:424065|DOID:6827 http://purl.obolibrary.org/obo/MONDO_0018525 solid pseudopapillary carcinoma of pancreas|solid pseudopapillary carcinoma of the pancreas|solid pseudopapillary neoplasm of the pancreas|pancreatic solid pseudopapillary carcinoma ordo_disease MONDO:0018524 obsolete intraductal papillary mucinous carcinoma of pancreas biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018524 HP:0030852 High pulse pressure biolink:PhenotypicFeature mondo UMLS:C0855323 Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). http://purl.obolibrary.org/obo/HP_0030852 MONDO:0018527 osteoclastic giant cell tumor of pancreas biolink:Disease mondo Orphanet:424080|UMLS:CN237530|ICD10:C25.2|ICD10:C25.1|ICD10:C25.0|ICD10:C25.8|ICD10:C25.7 UMLS:CN237530|ORPHA:424080 http://purl.obolibrary.org/obo/MONDO_0018527 undifferentiated carcinoma of pancreas with osteoclast-like giant cells|OGCT of pancreas|pancreatic undifferentiated carcinoma with osteoclast-like giant cells|pancreatic osteoclastic giant cell tumor ordo_disease MONDO:0018526 obsolete serous cystadenocarcinoma of pancreas biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018526 MONDO:0018521 squamous cell carcinoma of pancreas biolink:Disease mondo Orphanet:424039|ICD10:C25.8|ICD10:C25.7|UMLS:C2675993|DOID:0080323|ICD10:C25.2|UMLS:CN237524|ICD10:C25.1|ICD10:C25.0 A squamous cell carcinoma that involves the pancreas. UMLS:C2675993|ORPHA:424039|DOID:0080323|UMLS:CN237524 http://purl.obolibrary.org/obo/MONDO_0018521 pancreatic squamous cell carcinoma|pancreas squamous cell carcinoma|squamous cell carcinoma of the pancreas ordo_disease MONDO:0018520 rare epithelial tumor of pancreas biolink:Disease mondo Orphanet:424033|UMLS:CN237523 ORPHA:424033|UMLS:CN237523 http://purl.obolibrary.org/obo/MONDO_0018520 rare pancreatic epithelial tumor ordo_group_of_disorders|obsoletion_candidate MONDO:0018523 pancreatic mucinous cystadenoma biolink:Disease mondo ICD10:C25.0|NCIT:C5718|DOID:7235|ICD10:C25.8|ICD10:C25.7|Orphanet:424053|ICD10:C25.2|DOID:7735|ICD10:C25.1 A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass. NCIT:C5718|DOID:7235|ORPHA:424053|DOID:7735 http://purl.obolibrary.org/obo/MONDO_0018523 colloid cystadenoma of pancreas|pancreatic mucinous cystadenoma|colloid cystadenoma of the pancreas|mucinous cystadenoma of the pancreas|mucinous cystadenocarcinoma of the pancreas|pancreatic colloidal cystadenoma|pancreatic mucinous cystic neoplasm|colloidal cystadenoma of pancreas|colloidal cystadenoma of the pancreas|pancreas mucinous cystadenoma|pancreatic mucinous cystadenocarcinoma|mucinous cystadenoma of pancreas|pancreatic colloid cystadenoma ordo_disease MONDO:0018522 obsolete acinar cell carcinoma of pancreas biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018522 HGNC:1582 CCND1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1582 HGNC:1583 CCND2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1583 UBERON:0015142 falciform fat biolink:AnatomicalEntity mondo A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver. http://purl.obolibrary.org/obo/UBERON_0015142 falciform fat depot|falciform ligament fat pad MONDO:0006549 fibroepithelial polyp of the anus biolink:Disease mondo SCTID:195469007|DOID:8170|NCIT:C4435|EFO:1000699 A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium. SNOMEDCT:195469007|DOID:8170|NCIT:C5604|NCIT:C4435 http://purl.obolibrary.org/obo/MONDO_0006549 anus skin tag|anal fibrous polyp|anal fibroepithelial polyp|fibrous polyp of anus|anal tag|fibrous polyp of the anus|skin tag of anus|fibroepithelial polyp of anus UBERON:0015144 autopod hair biolink:AnatomicalEntity mondo A strand of hair that is part of a autopod region. http://purl.obolibrary.org/obo/UBERON_0015144 hand/foot hair|hair of hand/foot|paw hair UBERON:0015143 mesenteric fat pad biolink:AnatomicalEntity mondo Encapsulated adipose tissue associated with the mesentery http://purl.obolibrary.org/obo/UBERON_0015143 mesenteric fat depot MONDO:0006547 exanthem (disease) biolink:Disease mondo ICD10:R21|MESH:D005076|Wikipedia:Exanthem|ICD9:782.1|NCIT:C39594|DOID:0050486|EFO:1000697|SCTID:271807003|HP:0000988 Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. MESH:D005076|NCIT:C39594|NCIT:C111884|DOID:0050486|SNOMEDCT:271807003 http://purl.obolibrary.org/obo/MONDO_0006547 skin Rash|cutaneous eruption|exanthem|exanthema|Rash|skin eruption MONDO:0006548 facial dermatosis biolink:Disease mondo DOID:3134|UMLS:C0015456|EFO:1000698|MESH:D005148 Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder. DOID:3134|MESH:D005148|UMLS:C0015456 http://purl.obolibrary.org/obo/MONDO_0006548 MONDO:0006545 erythema multiforme biolink:Disease mondo SCTID:36715001|MESH:D004892|UMLS:C0014742|ICD9:695.1|ICD9:695.10|COHD:132702|GARD:0006372|NCIT:C3024|ICD10:L51|EFO:1000694|DOID:0050185 Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN). NCIT:C3024|MESH:D004892|SNOMEDCT:36715001|UMLS:C0014742|DOID:0050185 http://purl.obolibrary.org/obo/MONDO_0006545 febrile mucocutaneous syndrome|Herpes iris, erythema multiforme type|Dermatostomatitis, erythema multiforme type|EM|erythema multiforme bullosum|erythema polymorphe, erythema multiforme type gard_rare MONDO:0006546 erythematosquamous dermatosis biolink:Disease mondo COHD:140172|DOID:9097|ICD9:690.8|NCIT:C34591|SCTID:54792008|UMLS:C0014747|EFO:1000695|ICD9:690 A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff. DOID:9097|SNOMEDCT:54792008|UMLS:C0014747|NCIT:C34591 http://purl.obolibrary.org/obo/MONDO_0006546 Other erythematosquamous dermatosis|erythematosquamous dermatosis MONDO:0006543 epidermolysis bullosa dystrophica biolink:Disease mondo DOID:4959|SCTID:254185007|ICD10:Q81.2|MESH:D016108|ICD9:757.39|NCIT:C84691|Wikipedia:Epidermolysis_bullosa_dystrophica|EFO:1000692 A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. DOID:4959|MESH:D016108|NCIT:C84691|SNOMEDCT:254185007 http://purl.obolibrary.org/obo/MONDO_0006543 dystrophic epidermolysis bullosa MONDO:0006544 erythema infectiosum biolink:Disease mondo ICD9:057.0|SCTID:34730008|UMLS:C0085273|NCIT:C84695|MESH:D016731|COHD:134569|DOID:8743|EFO:1000693|ICD10:B08.3 A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. NCIT:C84695|MESH:D016731|DOID:8743|SNOMEDCT:34730008|UMLS:C0085273 http://purl.obolibrary.org/obo/MONDO_0006544 fifth disease UBERON:0015149 ventral hair biolink:AnatomicalEntity mondo A strand of hair that is part of a ventrum. http://purl.obolibrary.org/obo/UBERON_0015149 ventral coat hair MONDO:0006541 epidermolysis bullosa biolink:Disease mondo EFO:1000690|ICD10:Q81|MESH:D004820|SCTID:61003004|NCIT:C67383|Wikipedia:Epidermolysis_bullosa|DOID:2730|ICD9:757.39|COHD:4246290|ICD10:Q81.9|GARD:0006359 Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. DOID:2730|SNOMEDCT:61003004|NCIT:C67383|MESH:D004820 http://purl.obolibrary.org/obo/MONDO_0006541 acantholysis bullosa|EB|epidermolysis bullosa gard_rare MONDO:0006542 obsolete epidermolysis bullosa acquisita biolink:Disease mondo A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. http://purl.obolibrary.org/obo/MONDO_0006542 UBERON:0015146 manus hair biolink:AnatomicalEntity mondo A strand of hair that is part of a manus. http://purl.obolibrary.org/obo/UBERON_0015146 hair of hand|front paw hair|hand hair MONDO:0006540 dyshidrosis biolink:Disease mondo COHD:133551|ICD9:692.9|EFO:1000688|ICD9:705.81|UMLS:C0032633|Wikipedia:Dyshidrosis|DOID:9230|MESH:D011146|SCTID:402567004 A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) DOID:9230|UMLS:C0032633|SNOMEDCT:402567004|MESH:D011146 http://purl.obolibrary.org/obo/MONDO_0006540 pompholyx|vesicular eczema of hands and/or feet|dyshidrosis|DYSHYDROTIC eczema|cheiropompholyx UBERON:0015145 pes hair biolink:AnatomicalEntity mondo A strand of hair that is part of a pes. http://purl.obolibrary.org/obo/UBERON_0015145 hind foot hair|hind paw hair|hair of foot|foot hair UBERON:0015148 tail hair biolink:AnatomicalEntity mondo A strand of hair that is part of a tail. http://purl.obolibrary.org/obo/UBERON_0015148 UBERON:0015147 pinna hair biolink:AnatomicalEntity mondo A strand of hair that is part of a pinna. http://purl.obolibrary.org/obo/UBERON_0015147 ear hair MONDO:0018518 obsolete adenocarcinoma of the anal canal biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018518 FOODON:00002454 food product by quality biolink:OntologyClass mondo A class which contains food product categories qualified by a quality such as granularity or temperature, which is useful for tasks like food inspection where little prior knowledge of how the food came to be is available. Some terms like "food (frozen)" are both a quality descriptor and the output of a process. http://purl.obolibrary.org/obo/FOODON_00002454 MONDO:0018517 obsolete obsolete carcinoma of the anal canal biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018517 FOODON:00002451 food transformation process biolink:OntologyClass mondo A process involving the physical transformation of a food source or food product into some derived organic material or food product http://purl.obolibrary.org/obo/FOODON_00002451 FOODON:00002452 invertebrate animal biolink:OntologyClass mondo Invertebrates are animals that neither possess nor develop a vertebral column (commonly known as a backbone or spine), derived from the notochord. This includes all animals apart from the subphylum Vertebrata. http://purl.obolibrary.org/obo/FOODON_00002452 animal MONDO:0018519 obsolete squamous cell carcinoma of the anal canal biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018519 MONDO:0018514 obsolete rare epithelial tumor of rectum biolink:Disease mondo UMLS:CN237519|Orphanet:423998 Any of the forms of epithelial neoplasm of rectum that have a rare incidence. UMLS:CN237519|ORPHA:423998 http://purl.obolibrary.org/obo/MONDO_0018514 rare epithelial neoplasm of rectum|rare rectal epithelial tumor ordo_group_of_disorders|obsoletion_candidate MONDO:0018513 squamous cell carcinoma of colon biolink:Disease mondo ICD10:C18.9|UMLS:C1333100|Orphanet:423994|ICD10:C18.8|SCTID:766981007|ICD10:C18.7|ICD10:C18.6|ICD10:C18.5|ICD10:C18.4|ICD10:C18.3|ICD10:C18.2|UMLS:CN237518|DOID:5519|NCIT:C5490|ICD10:C18.0 A squamous cell carcinoma that involves the colon. UMLS:CN237518|ORPHA:423994|NCIT:C5490|SNOMEDCT:766981007|UMLS:C1333100|DOID:5519 http://purl.obolibrary.org/obo/MONDO_0018513 colonic epidermoid carcinoma|colon squamous cell cancer|epidermoid carcinoma of the colon|epidermoid carcinoma of colon|squamous cell colon carcinoma|squamous cell carcinoma of colon|colonic squamous cell carcinoma|colon epidermoid carcinoma|squamous cell carcinoma of the colon|colon squamous cell carcinoma ordo_disease MONDO:0018516 epithelial tumor of anal canal biolink:Disease mondo UMLS:CN237521|Orphanet:424010 A epithelial neoplasm that involves the anal canal. UMLS:CN237521|ORPHA:424010 http://purl.obolibrary.org/obo/MONDO_0018516 anal canal epithelial neoplasm ordo_group_of_disorders MONDO:0018515 squamous cell carcinoma of rectum biolink:Disease mondo UMLS:C1335690|ICD10:C20|SCTID:766979005|NCIT:C5554|Orphanet:424002|DOID:5528 A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. DOID:5528|SNOMEDCT:766979005|NCIT:C5554|UMLS:C1335690|ORPHA:424002 http://purl.obolibrary.org/obo/MONDO_0018515 squamous carcinoma of rectum|rectal squamous cell carcinoma|squamous cell carcinoma of the rectum|squamous carcinoma of the rectum|rectum squamous cell carcinoma|squamous cell carcinoma of rectum|rectal squamous carcinoma|rectal squamous cell cancer ordo_disease MONDO:0018510 small intestine neuroendocrine neoplasm biolink:Disease mondo DOID:4434|Orphanet:423975|NCIT:C5803|UMLS:C1336005|UMLS:CN237515 A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). UMLS:CN237515|DOID:4434|ORPHA:423975|UMLS:C1336005|NCIT:C5803 http://purl.obolibrary.org/obo/MONDO_0018510 small intestine neuroendocrine neoplasm|neuroendocrine tumor of the small intestine|neuroendocrine tumor of small bowel|small intestinal neuroendocrine neoplasm|NET of the small intestine|small intestine neuroendocrine tumor|small intestine neuroendocrine tumor, well differentiated, low or intermediate grade|small intestine NET|neuroendocrine neoplasm of small intestine|small intestine neuroendocrine tumor|neuroendocrine neoplasm of the small intestine ordo_group_of_disorders MONDO:0018512 obsolete rare epithelial tumor of colon biolink:Disease mondo UMLS:CN237517|Orphanet:423991 Any of the forms of epithelial tumor of colon that have a rare incidence. UMLS:CN237517|ORPHA:423991 http://purl.obolibrary.org/obo/MONDO_0018512 rare epithelial tumor of colon ordo_group_of_disorders|obsoletion_candidate MONDO:0018511 epithelial tumor of the appendix biolink:Disease mondo Orphanet:423982|UMLS:CN237516 A epithelial neoplasm that involves the vermiform appendix. UMLS:CN237516|ORPHA:423982 http://purl.obolibrary.org/obo/MONDO_0018511 appendiceal epithelial tumor|vermiform appendix epithelial neoplasm ordo_group_of_disorders HP:0003231 Hypertyrosinemia biolink:PhenotypicFeature mondo UMLS:C1879362|SNOMEDCT_US:56595005 An increased concentration of tyrosine in the blood. http://purl.obolibrary.org/obo/HP_0003231 Increased tyrosine in blood|Tyrosinemia MONDO:0006518 sporadic Creutzfeld Jacob disease biolink:Disease mondo EFO:1000656 Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years. http://purl.obolibrary.org/obo/MONDO_0006518 MONDO:0006519 rectal cancer biolink:Disease mondo NCIT:C7418|ICD10:C20|DOID:1993|SCTID:363351006|ICD9:154.1|EFO:1000657 A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma. SNOMEDCT:363351006|NCIT:C7418|DOID:1993 http://purl.obolibrary.org/obo/MONDO_0006519 malignant rectal tumor|malignant rectum neoplasm|malignant neoplasm of the rectum|carcinoma of rectum|cancer of rectum|malignant rectal neoplasm|malignant neoplasm of rectum|malignant tumor of rectum|carcinoma of the rectum|rectum cancer|malignant rectum tumor|malignant tumor of the rectum|rectal cancer UBERON:0015130 connective tissue of prostate gland biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a prostate gland. http://purl.obolibrary.org/obo/UBERON_0015130 connective tissue of prostate MONDO:0006516 sarcopenia biolink:Disease mondo EFO:1000653|MedDRA:10063024|ICD10:M62.84|UMLS:C0872084|MESH:D055948 Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles. UMLS:C0872084|MESH:D055948 http://purl.obolibrary.org/obo/MONDO_0006516 MONDO:0006517 childhood malignant neoplasm biolink:Disease mondo EFO:1000654|NCIT:C4005|UMLS:C0278704 A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). UMLS:C0278704|NCIT:C4005 http://purl.obolibrary.org/obo/MONDO_0006517 malignant pediatric tumor|malignant pediatric neoplasm|malignant neoplasm|childhood cancer|malignant childhood tumor|pediatric cancer|malignant childhood neoplasm|childhood malignant neoplasm|childhood neoplasm, malignant|malignant neoplasm MONDO:0006514 recalcitrant atopic dermatitis biolink:Disease mondo EFO:1000651|PMID:25935106 Moderate to severe atopic dermatitis with allergic sensitisation. http://purl.obolibrary.org/obo/MONDO_0006514 MONDO:0006515 acute pancreatitis biolink:Disease mondo EFO:1000652|UMLS:C0001339|ICD9:577.0|ICD10:K85|SCTID:7881005|NCIT:C95437|Wikipedia:Acute_pancreatitis|COHD:199074|HP:0001735|DOID:2913|ICD10:K85.9|MESH:D019283|UMLS:C0267941 An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. UMLS:C0001339|UMLS:C0267941|SNOMEDCT:7881005|MESH:D019283|DOID:2913|NCIT:C95437 http://purl.obolibrary.org/obo/MONDO_0006515 acute necrotizing pancreatitis|pancreatitis necrotizing|acute pancreatitis NOS|pancreatitis, acute|acute pancreatitis (disorder) [ambiguous] NCBITaxon:1113537 Chlamydia/Chlamydophila group organism taxon mondo PMID:11211265|PMID:21048222|PMID:21048221|PMID:23620152|GC_ID:11|PMID:10319462 http://purl.obolibrary.org/obo/NCBITaxon_1113537 MONDO:0006512 estrogen-receptor positive breast cancer biolink:Disease mondo DOID:0060075|EFO:1000649 A subtype of breast cancer that is estrogen-receptor positive DOID:0060075 http://purl.obolibrary.org/obo/MONDO_0006512 ER+ breast cancer|estrogen receptor positive breast cancer MONDO:0006513 estrogen-receptor negative breast cancer biolink:Disease mondo EFO:1000650|DOID:0060076 A subtype of breast cancer that is estrogen-receptor negative DOID:0060076 http://purl.obolibrary.org/obo/MONDO_0006513 ER- breast cancer MONDO:0006510 renal tubular transport disease biolink:Disease mondo UMLS:C0035091|DOID:447|EFO:1000647|MESH:D015499 Genetic defects in the selective or non-selective transport functions of the kidney tubules. DOID:447|UMLS:C0035091|MESH:D015499 http://purl.obolibrary.org/obo/MONDO_0006510 kidney tubular transport, inborn errors|disorder of renal absorption|kidney tubular transport, inborn error|disorder of renal absorption|renal tubular transport errors|inborn renal tubular transport disorder|renal tubular transport, inborn error|renal absorption disease MONDO:0006511 obsolete developmental dysplasia of the hip biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006511 MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome biolink:Disease mondo UMLS:CN237512|Orphanet:423894|ICD10:G60.0 Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. UMLS:CN237512|ORPHA:423894 http://purl.obolibrary.org/obo/MONDO_0018507 ordo_disease HP:0003202 Skeletal muscle atrophy biolink:PhenotypicFeature mondo MSH:D009133|SNOMEDCT_US:74035001|UMLS:C0234958|UMLS:C0270948|UMLS:C1843479|UMLS:C0541794 The presence of skeletal muscular atrophy (which is also known as amyotrophy). http://purl.obolibrary.org/obo/HP_0003202 Muscle atrophy, neurogenic|Muscle degeneration|Neurogenic muscle atrophy|Amyotrophy|Muscle atrophy|Neurogenic muscular atrophy|Muscular atrophy|Neurogenic muscle atrophy, especially in the lower limbs|Muscle wasting|Amyotrophy involving the extremities|Muscle hypotrophy MONDO:0018506 mesenchymal tumor of small intestine biolink:Disease mondo UMLS:CN237511|Orphanet:423798 UMLS:CN237511|ORPHA:423798 http://purl.obolibrary.org/obo/MONDO_0018506 mesenchymal tumor of small bowel ordo_group_of_disorders MONDO:0018509 squamous cell carcinoma of the small intestine biolink:Disease mondo Orphanet:423968|UMLS:CN237514|UMLS:C1710111|ICD10:C17.8|ICD10:C17.3|NCIT:C43534|ICD10:C17.2|ICD10:C17.1|ICD10:C17.0 A carcinoma that arises from the small intestine. It is composed of malignant squamous cells. UMLS:C1710111|UMLS:CN237514|ORPHA:423968|NCIT:C43534 http://purl.obolibrary.org/obo/MONDO_0018509 squamous cell carcinoma of the small bowel|small intestinal squamous cell cancer|small intestinal squamous cell carcinoma|small intestine squamous cell carcinoma ordo_disease MONDO:0018508 obsolete rare carcinoma of small intestine biolink:Disease mondo Orphanet:423957 Any of the forms of small intestine carcinoma that have a rare incidence. ORPHA:423957 http://purl.obolibrary.org/obo/MONDO_0018508 rare small intestine carcinoma|rare carcinoma of small bowel ordo_group_of_disorders|obsoletion_candidate MONDO:0018503 carcinoma of stomach, salivary gland type biolink:Disease mondo ICD10:C16.8|ICD10:C16.6|ICD10:C16.5|ICD10:C16.4|ICD10:C16.3|ICD10:C16.2|ICD10:C16.1|ICD10:C16.0|Orphanet:423781|UMLS:CN237508 UMLS:CN237508|ORPHA:423781 http://purl.obolibrary.org/obo/MONDO_0018503 gastric carcinoma, salivary gland type ordo_disease GO:0080090 regulation of primary metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/GO_0080090 MONDO:0018502 hereditary gastric cancer biolink:Disease mondo Orphanet:423776 Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome. ORPHA:423776 http://purl.obolibrary.org/obo/MONDO_0018502 hereditary gastric cancer|hereditary cancer of stomach ordo_group_of_disorders HP:0030875 Abnormality of pulmonary circulation biolink:PhenotypicFeature mondo UMLS:C4280730 A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. http://purl.obolibrary.org/obo/HP_0030875 Abnormality of respiratory circulation|Abnormal pulmonary circulation MONDO:0018505 obsolete rare tumor of small intestine biolink:Disease mondo Orphanet:423793|UMLS:CN237510 Any of the forms of small intestine neoplasm that have a rare incidence. UMLS:CN237510|ORPHA:423793 http://purl.obolibrary.org/obo/MONDO_0018505 rare tumor of small bowel|rare small intestine neoplasm ordo_group_of_disorders|obsoletion_candidate MONDO:0018504 undifferentiated carcinoma of stomach biolink:Disease mondo ICD10:C16.2|SCTID:766757006|NCIT:C5476|ICD10:C16.1|ONCOTREE:USTAD|ICD10:C16.0|UMLS:C1336858|Orphanet:423786|ICD10:C16.8|UMLS:CN237509|ICD10:C16.6|ICD10:C16.5|ICD10:C16.4|ICD10:C16.3 A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation. UMLS:CN237509|ORPHA:423786|SNOMEDCT:766757006|NCIT:C5476|UMLS:C1336858 http://purl.obolibrary.org/obo/MONDO_0018504 undifferentiated carcinoma of the stomach|Gastric undifferentiated carcinoma|undifferentiated stomach adenocarcinoma|undifferentiated carcinoma of stomach|anaplastic carcinoma of the stomach|anaplastic carcinoma of stomach|undifferentiated gastric carcinoma|anaplastic gastric carcinoma|stomach undifferentiated carcinoma|undifferentiated gastric (stomach) cancer|Gastric undifferentiated carcinoma ordo_disease MONDO:0018501 obsolete rare carcinoma of stomach biolink:Disease mondo Orphanet:423771 Rare stomach carcinoma. ORPHA:423771 http://purl.obolibrary.org/obo/MONDO_0018501 rare gastric carcinoma|rare stomach carcinoma ordo_group_of_disorders|obsoletion_candidate MONDO:0018500 cutaneous larva migrans biolink:Disease mondo ICD9:126.9|SCTID:19362000|GARD:0001629|MESH:D007815|Orphanet:423717|ICD10:B76.9 Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances. ORPHA:423717|MESH:D007815|SNOMEDCT:19362000 http://purl.obolibrary.org/obo/MONDO_0018500 creeping eruption|dew itch|ground itch|CLM ordo_disease|gard_rare NCBITaxon:33993 Neorickettsia organism taxon mondo PMID:11760958|GC_ID:11|PMID:7537065 http://purl.obolibrary.org/obo/NCBITaxon_33993 MONDO:0006509 papillary carcinoma biolink:Disease mondo EFO:1000646|MESH:D002291|NCIT:C2927|DOID:3113|ICDO:8050/3|UMLS:C0007133 A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. MESH:D002291|NCIT:C2927|DOID:3113|UMLS:C0007133 http://purl.obolibrary.org/obo/MONDO_0006509 papillary carcinoma|papillary carcinoma NOS (morphologic abnormality)|papillary carcinoma (morphologic abnormality) MONDO:0006529 obsolete bullous skin disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006529 MONDO:0006527 anhidrosis biolink:Disease mondo SCTID:39659002|EFO:1000670|ICD9:705.0|DOID:11156|COHD:140490|ICD10:L74.4 Lack of sweating or the ability to sweat when provoked by the appropriate stimulus. NCIT:C34385|SNOMEDCT:39659002|DOID:11156 http://purl.obolibrary.org/obo/MONDO_0006527 adiaphoresis|absence of sweating MONDO:0006528 bacterial exanthem biolink:Disease mondo DOID:0050487|EFO:1000671 A bacteria-induced exanthem DOID:0050487 http://purl.obolibrary.org/obo/MONDO_0006528 HP:0040202 Abnormal consumption behavior biolink:PhenotypicFeature mondo UMLS:C4073150 http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behaviour MONDO:0006525 allergic contact dermatitis biolink:Disease mondo ICD10:L23.9|ICD9:692.9|UMLS:C0162820|EFO:1000668|SCTID:238575004|DOID:3042|COHD:4031019|ICD10:L23|NCIT:C26998|MESH:D017449 An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak. DOID:3042|UMLS:C0162820|MESH:D017449|NCIT:C26998|SNOMEDCT:238575004 http://purl.obolibrary.org/obo/MONDO_0006525 allergic contact dermatitis|allergic form of contact dermatitis MONDO:0006526 allergic urticaria biolink:Disease mondo COHD:139902|Wikipedia:Urticaria#Allergic_urticaria|DOID:10612|SCTID:40178009|ICD9:708.0|EFO:1000669|UMLS:C0149526|ICD10:L50.0 A urticaria with a basis in a pathological type I hypersensitivity reaction. DOID:10612|UMLS:C0149526|SNOMEDCT:40178009 http://purl.obolibrary.org/obo/MONDO_0006526 allergic urticaria (disease)|allergic form of urticaria (disease)|allergic form of urticaria MONDO:0006523 acrodermatitis biolink:Disease mondo MESH:D000169|ICD9:686.8|UMLS:C0001197|GARD:0005722|DOID:2722|CSP:4008-0032|EFO:1000664|SCTID:8197001|NCIT:C84532 An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected. DOID:2722|NCIT:C84532|UMLS:C0001197|SNOMEDCT:8197001|MESH:D000169 http://purl.obolibrary.org/obo/MONDO_0006523 gard_rare CHEBI:83925 non-proteinogenic alpha-amino acid biolink:ChemicalSubstance mondo Any alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. http://purl.obolibrary.org/obo/CHEBI_83925 non-proteinogenic alpha-amino acids|non-proteinogenic alpha-amino-acid|non-proteinogenic alpha-amino-acids MONDO:0006524 acrodermatitis chronica atrophicans biolink:Disease mondo DOID:0060344|SCTID:4340003|UMLS:C0263421|DERMO:0002165|EFO:1000665|ICD9:701.8|ICD10:L90.4 An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. UMLS:C0263421|DOID:0060344|SNOMEDCT:4340003 http://purl.obolibrary.org/obo/MONDO_0006524 Herxheimer disease|primary diffuse atrophy MONDO:0043510 brain injury biolink:Disease mondo MESH:D001930 Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits. MESH:D001930 http://purl.obolibrary.org/obo/MONDO_0043510 brain trauma|injury of brain|brain injury|brain Traumas MONDO:0006521 acneiform dermatitis biolink:Disease mondo UMLS:C0234894|NCIT:C35277|DOID:4399|EFO:1000662 Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids). DOID:4399|UMLS:C0234894|NCIT:C35277 http://purl.obolibrary.org/obo/MONDO_0006521 Rash acneiform UBERON:0015128 subepicardial layer of epicardium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0015128 subepicardial connective tissue|perimysial connective tissue of subepicardium MONDO:0006522 acquired keratosis biolink:Disease mondo SCTID:400166009|NCIT:C34746|COHD:137951|DOID:13072|EFO:1000663|ICD9:701.1 Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications. DOID:13072|NCIT:C34746|SNOMEDCT:400166009 http://purl.obolibrary.org/obo/MONDO_0006522 acquired keratoderma NOS|acquired keratoderma|keratoderma - acquired|keratoderma, acquired|acquired hyperkeratosis|acquired keratosis MONDO:0043512 traumatic encephalopathy biolink:Disease mondo SCTID:230282000|NCIT:C35542|EFO:1001277 Encephalopathy resulting from trauma. NCIT:C35542|SNOMEDCT:230282000 http://purl.obolibrary.org/obo/MONDO_0043512 post-traumatic dementia|dementia due to head trauma|post-traumatic brain syndrome|traumatic encephalopathy MONDO:0006520 Achenbach syndrome biolink:Disease mondo NCIT:C35467|PMID:22915534|SCTID:238824006|DOID:6687|EFO:1000661 A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days. SNOMEDCT:238824006|DOID:6687|NCIT:C35467 http://purl.obolibrary.org/obo/MONDO_0006520 paroxysmal hematoma of the finger|Achenbach syndrome UBERON:0015129 epicardial fat biolink:AnatomicalEntity mondo Visceral intrapericardial fat contiguous with the myocardial surface. http://purl.obolibrary.org/obo/UBERON_0015129 epicardial adipose tissue|pericardial adipose tissue FOODON:00002471 prepared seafood product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00002471 FOODON:00002470 food object quality biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00002470 NCBITaxon:33988 Rickettsieae organism taxon mondo GC_ID:11|PMID:8240958|PMID:11760958 http://purl.obolibrary.org/obo/NCBITaxon_33988 CHEBI:22978 cadmium molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_22978 cadmium molecular entities|cadmium compounds CHEBI:22977 cadmium atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_22977 cadmio|cadmium|48Cd|Kadmium|Cd|cadmium MONDO:0006578 mediastinal lipomatosis biolink:Disease mondo EFO:1000732|UMLS:C1334662|DOID:3926|NCIT:C27488 A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum. UMLS:C1334662|DOID:3926|NCIT:C27488 http://purl.obolibrary.org/obo/MONDO_0006578 mediastinal lipomatosis MONDO:0006579 melanoacanthoma biolink:Disease mondo EFO:1000733|Wikipedia:Melanocanthoma|DOID:11684|NCIT:C27548|UMLS:C1321683|SCTID:394727000 A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes. DOID:11684|SNOMEDCT:394727000|UMLS:C1321683|NCIT:C27548 http://purl.obolibrary.org/obo/MONDO_0006579 MONDO:0006576 Ludwig's angina biolink:Disease mondo UMLS:C3247204|SCTID:196542004|MESH:D008158|EFO:1000730|Wikipedia:Ludwig's_angina|UMLS:C0024081|ICD9:528.3|DOID:4558 Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed) MESH:D008158|SNOMEDCT:196542004|UMLS:C0024081|DOID:4558|UMLS:C3247204 http://purl.obolibrary.org/obo/MONDO_0006576 cellulitis (disease) of mouth floor|mouth floor cellulitis (disease)|cellulitis of floor of mouth|Ludwig angina NCBITaxon:136 Spirochaetales organism taxon mondo PMID:11542017|PMID:23908650|PMID:11075904|GC_ID:11|PMID:16558735|PMID:1917844 http://purl.obolibrary.org/obo/NCBITaxon_136 spirochetes MONDO:0006577 maxillary sinus cholesteatoma biolink:Disease mondo DOID:867|UMLS:C1334644|EFO:1000731|NCIT:C35868 A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment. UMLS:C1334644|NCIT:C35868|DOID:867 http://purl.obolibrary.org/obo/MONDO_0006577 maxillary sinus cholesteatoma (disease)|cholesteatoma (disease) of maxillary sinus MONDO:0006574 lipomatosis biolink:Disease mondo ICD9:272.8|SCTID:402693001|UMLS:C0023801|Wikipedia:Lipomatosis|DOID:3153|EFO:1000728|NCIT:C3193|MESH:D008068|ICD10:E88.2 A neoplastic process characterized by diffuse overgrowth of mature adipose tissue. NCIT:C3193|SNOMEDCT:402693001|MESH:D008068|DOID:3153|UMLS:C0023801 http://purl.obolibrary.org/obo/MONDO_0006574 Madelung disease|Launois-Bensaude syndrome|lipomatosis|Madelung's disease MONDO:0006575 obsolete loiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006575 MONDO:0006572 lichen planus biolink:Disease mondo COHD:132703|MESH:D008010|ICD9:697.0|ICD10:L43|NCIT:C3189|SCTID:4776004|EFO:1000726|UMLS:C0023646|ICD10:L43.9|DOID:9201 A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus. NCIT:C3189|MESH:D008010|UMLS:C0023646|SNOMEDCT:4776004|DOID:9201 http://purl.obolibrary.org/obo/MONDO_0006572 ruber planus|lichen, ruber planus|lichen ruber planus NCBITaxon:139 Borreliella burgdorferi organism taxon mondo PMID:7981102|PMID:8995796|PMID:7699027|PMID:1380285|PMID:9336916|PMID:24744012|GC_ID:11|PMID:1503971 http://purl.obolibrary.org/obo/NCBITaxon_139 Borrelia burdorferi|Borrelia burgdorferi|Lyme disease spirochete MONDO:0006573 lipodystrophy (disease) biolink:Disease mondo MESH:D008060|UMLS:C0023787|ICD10:E88.1|HP:0009125|Wikipedia:Lipodystrophy|NCIT:C97093|COHD:134324|DOID:811|SCTID:71325002|ICD9:272.6|EFO:1000727 A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. MESH:D008060|DOID:811|SNOMEDCT:71325002|UMLS:C0023787|NCIT:C97093 http://purl.obolibrary.org/obo/MONDO_0006573 lipodsystrophic syndrome|lipodsystrophic syndromes|lipodystrophy MONDO:0006570 lichen disease biolink:Disease mondo DOID:8574|UMLS:C0023643|SCTID:88996004|ICD9:697.8|ICD9:697|ICD9:697.9|EFO:1000724|ICD10:L28.0 A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin. UMLS:C0023643|SNOMEDCT:88996004|DOID:8574 http://purl.obolibrary.org/obo/MONDO_0006570 lichen condition|lichen NCBITaxon:137 Spirochaetaceae organism taxon mondo PMID:23908650|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_137 Treponemataceae NCBITaxon:138 Borrelia organism taxon mondo PMID:30154058|PMID:30586413|PMID:28141502|PMID:24744012|PMID:8863409|PMID:27930271|PMID:31836459|PMID:31722850|GC_ID:11|PMID:31454394|PMID:8863416 http://purl.obolibrary.org/obo/NCBITaxon_138 MONDO:0006571 lichen nitidus biolink:Disease mondo ICD9:697.1|DOID:8573|Wikipedia:Lichen_nitidus|ICD10:L44.1|SCTID:41890004|MESH:D017513|UMLS:C0162849|EFO:1000725|COHD:132704 A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses. DOID:8573|SNOMEDCT:41890004|UMLS:C0162849|MESH:D017513 http://purl.obolibrary.org/obo/MONDO_0006571 Pinkus' disease MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:CN237580|Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. UMLS:CN237580|ORPHA:435938 http://purl.obolibrary.org/obo/MONDO_0018569 ordo_malformation_syndrome MONDO:0018568 COG2-CDG biolink:Disease mondo UMLS:C4479353|Orphanet:435934|ICD10:E77.8 UMLS:C4479353|ORPHA:435934 http://purl.obolibrary.org/obo/MONDO_0018568 COG2-related congenital disorder of glycosylation ordo_disease HP:0030810 Abnormal tongue physiology biolink:PhenotypicFeature mondo UMLS:C4280754 Any functional anomaly of the tongue. http://purl.obolibrary.org/obo/HP_0030810 MONDO:0018565 congenital urachal anomaly biolink:Disease mondo Orphanet:435743 Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. ORPHA:435743 http://purl.obolibrary.org/obo/MONDO_0018565 ordo_group_of_disorders MONDO:0018564 3p25.3 microdeletion syndrome biolink:Disease mondo Orphanet:435638|ICD10:Q93.5|UMLS:CN237571 3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. UMLS:CN237571|ORPHA:435638 http://purl.obolibrary.org/obo/MONDO_0018564 monosomy 3p25.3|Del(3)p(25.3)|intellectual disability-epilepsy-stereotypic hand movement syndrome ordo_malformation_syndrome MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation biolink:Disease mondo Orphanet:435819|ICD10:G60.0|UMLS:CN237576 UMLS:CN237576|ORPHA:435819 http://purl.obolibrary.org/obo/MONDO_0018567 CMT2 due to TFG mutation ordo_disease MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome biolink:Disease mondo ICD10:M89.8|Orphanet:435804|UMLS:CN237575 UMLS:CN237575|ORPHA:435804 http://purl.obolibrary.org/obo/MONDO_0018566 ordo_disease MONDO:0018561 precocious puberty in female biolink:Disease mondo HP:0010465|UMLS:C0271616|Orphanet:435561 A precocious puberty that involves the female organism. UMLS:C0271616|ORPHA:435561 http://purl.obolibrary.org/obo/MONDO_0018561 precocious puberty of female organism|female organism precocious puberty ordo_group_of_disorders MONDO:0018560 anterior urethral valve biolink:Disease mondo Orphanet:435372|ICD10:Q64.7|UMLS:CN242188|SCTID:253907008 UMLS:CN242188|SNOMEDCT:253907008|ORPHA:435372 http://purl.obolibrary.org/obo/MONDO_0018560 ordo_morphological_anomaly MONDO:0018563 adactyly of foot biolink:Disease mondo Orphanet:435623|SCTID:66345008|ICD10:Q72.8 SNOMEDCT:66345008|ORPHA:435623 http://purl.obolibrary.org/obo/MONDO_0018563 congenital absence of toes ordo_morphological_anomaly MONDO:0018562 genetic otorhinolaryngological malformation biolink:Disease mondo Orphanet:435603 ORPHA:435603 http://purl.obolibrary.org/obo/MONDO_0018562 ordo_group_of_disorders NCBITaxon:151341 Polyomaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_151341 UBERON:0015181 neck of tooth biolink:AnatomicalEntity mondo The slightly constricted part of a tooth, between the crown and the root. http://purl.obolibrary.org/obo/UBERON_0015181 dental neck|cervix dentis|cervix of tooth|cervical zone of tooth|cervical margin of tooth|collumn dentis|tooth neck MONDO:0006589 occupational dermatitis biolink:Disease mondo EFO:1000744|NCIT:C34859|MESH:D009783|DOID:4404|SCTID:402587003|UMLS:C0028796|ICD9:692.9 Contact dermatitis associated with allergens or irritants found in the workplace. SNOMEDCT:402587003|UMLS:C0028796|MESH:D009783|NCIT:C34859|DOID:4404 http://purl.obolibrary.org/obo/MONDO_0006589 occupational allergic contact dermatitis|occupational eczema|occupational eczema (disorder) [ambiguous]|occupational dermatitis NCBITaxon:151340 Papillomaviridae organism taxon mondo GC_ID:1|PMID:20206957 http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomavirus MONDO:0006587 obsolete nodular nonsuppurative panniculitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006587 MONDO:0006588 nonepidermolytic palmoplantar keratoderma biolink:Disease mondo SCTID:716105001|ICD10:Q82.8|EFO:1000743|DOID:0050428|Orphanet:2337 Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. ORPHA:2337|DOID:0050428|SNOMEDCT:716105001 http://purl.obolibrary.org/obo/MONDO_0006588 NEPPK|autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type|diffuse nonepidermolytic palmomplantar keratoderma|tylosis|Unna-Thost syndrome|Thost-Unna syndrome|non-epidermolytic palmoplantar keratoderma|diffuse palmoplantar keratoderma, Bothnian type ordo_inheritance_inconsistent|ordo_disease MONDO:0006585 neurodermatitis biolink:Disease mondo UMLS:C0149922|NCIT:C111963|MESH:D009450|EFO:1000740|UMLS:C0027822|DOID:3309|SCTID:267854005 Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin. UMLS:C0149922|NCIT:C111963|UMLS:C0027822|MESH:D009450|SNOMEDCT:267854005|DOID:3309 http://purl.obolibrary.org/obo/MONDO_0006585 lichen simplex Chronicus MONDO:0006586 neurotic excoriation biolink:Disease mondo ICD9:698.4|Wikipedia:Neurotic_excoriations|ICD10:L98.1|EFO:1000741|DOID:9165|UMLS:C1274184|ICD9:300.19|SCTID:402736003 A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin. SNOMEDCT:402736003|DOID:9165|UMLS:C1274184 http://purl.obolibrary.org/obo/MONDO_0006586 factitious skin disease|dermatitis ficta|dermatitis factitia|dermatitis artefacta|dermatitis factitia [artefacta] MONDO:0006583 necrobiosis lipoidica biolink:Disease mondo SCTID:9418005|UMLS:C0027538|MESH:D009335|ICD10:L92.1|DOID:3486|Wikipedia:Necrobiosis_lipoidica|EFO:1000738|Orphanet:542592|NCIT:C34840|GARD:0013040 Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring. UMLS:C0027538|MESH:D009335|NCIT:C34840|DOID:3486|ORPHA:542592|SNOMEDCT:9418005 http://purl.obolibrary.org/obo/MONDO_0006583 necrobiosis lipoidica|necrobiosis lipoidica diabeticorum (formerly) gard_rare|ordo_disease MONDO:0006584 neonatal jaundice biolink:Disease mondo UMLS:C0022353|SCTID:387712008|ICD10:P59.9|MESH:D007567|COHD:435656|ICD9:774.6|DOID:2383|EFO:1000739|ICD9:774.5 Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. SNOMEDCT:387712008|NCIT:C99246|MESH:D007567|DOID:2383|UMLS:C0022353 http://purl.obolibrary.org/obo/MONDO_0006584 neonatal hyperbilirubinemia|neonatal icterus MONDO:0006581 miliaria rubra biolink:Disease mondo UMLS:C0162423|ICD10:L74.2|DOID:11153|ICD10:L74.0|SCTID:44279002|ICD9:705.1|UMLS:C3241961|EFO:1000735 Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps). UMLS:C0162423|UMLS:C3241961|SNOMEDCT:44279002|DOID:11153 http://purl.obolibrary.org/obo/MONDO_0006581 miliaria crystallina|sudamina|prickly heat - miliaria MONDO:0006582 mongolian spot biolink:Disease mondo UMLS:C0265985|NCIT:C3945|DOID:4702|MESH:D049328|SCTID:40467008|Wikipedia:Mongolian_spot|EFO:1000736 A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot. NCIT:C3945|MESH:D049328|UMLS:C0265985|DOID:4702|SNOMEDCT:40467008 http://purl.obolibrary.org/obo/MONDO_0006582 Mongolian macula|congenital dermal melanocytosis|blue sacral spot MONDO:0006580 miliaria biolink:Disease mondo SCTID:63951004|ICD10:L74.3|MESH:D008883|UMLS:C0026113|Wikipedia:Miliaria|EFO:1000734|DOID:1382|NCIT:C34820 A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands. SNOMEDCT:63951004|UMLS:C0026113|NCIT:C34820|MESH:D008883|DOID:1382 http://purl.obolibrary.org/obo/MONDO_0006580 prickly heat|heat Rash HP:0030824 Mizuo phenomenon biolink:PhenotypicFeature mondo UMLS:C4280748 Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. http://purl.obolibrary.org/obo/HP_0030824 Mizuo-Nakamura phenomenon MONDO:0018558 syndrome with woolly hair biolink:Disease mondo Orphanet:434809 ORPHA:434809 http://purl.obolibrary.org/obo/MONDO_0018558 ordo_group_of_disorders GO:0031090 organelle membrane biolink:OntologyClass mondo A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. http://purl.obolibrary.org/obo/GO_0031090 intracellular membrane MONDO:0018557 obsolete rare genetic autonomic nervous system disorder biolink:Disease mondo UMLS:CN237558|Orphanet:434786 Rare genetic autonomic nervous system disease. UMLS:CN237558|ORPHA:434786 http://purl.obolibrary.org/obo/MONDO_0018557 rare genetic autonomic nervous system disease obsoletion_candidate|ordo_group_of_disorders GO:0031091 platelet alpha granule biolink:OntologyClass mondo A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). http://purl.obolibrary.org/obo/GO_0031091 platelet alpha-granule MONDO:0018559 fetal lower urinary tract obstruction biolink:Disease mondo Orphanet:435365|UMLS:C4305545|SCTID:717752005 SNOMEDCT:717752005|UMLS:C4305545|ORPHA:435365 http://purl.obolibrary.org/obo/MONDO_0018559 LUTO ordo_group_of_disorders HP:0003272 Abnormality of the hip bone biolink:PhenotypicFeature mondo UMLS:C4021735 An abnormality of the hip bone. http://purl.obolibrary.org/obo/HP_0003272 Abnormality of the hip bone|Abnormality of the hips MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis biolink:Disease mondo EFO:0009199|UMLS:CN237555|Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. ORPHA:431353|UMLS:CN237555 http://purl.obolibrary.org/obo/MONDO_0018554 ordo_group_of_disorders MONDO:0018553 urachal diverticulum biolink:Disease mondo SCTID:253899000|ICD10:Q64.4|NCIT:C123254|Orphanet:431347|UMLS:CN237554 Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. ORPHA:431347|NCIT:C123254|SNOMEDCT:253899000|UMLS:CN237554 http://purl.obolibrary.org/obo/MONDO_0018553 Vesicourachal diverticulum ordo_morphological_anomaly HP:0003271 Visceromegaly biolink:PhenotypicFeature mondo SNOMEDCT_US:28543008|UMLS:C0042782 Abnormal increased size of the viscera of the abdomen. http://purl.obolibrary.org/obo/HP_0003271 MONDO:0018556 Lambert-Eaton myasthenic syndrome biolink:Disease mondo GARD:0006851|NCIT:C3155|Orphanet:43393|ICD10:G73.1|MedDRA:10067685|ICD10:G70.80|SCTID:56989000|DOID:0050214|UMLS:C0022972|ICD9:358.3|MESH:D015624 Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC). UMLS:C0022972|NCIT:C3155|SNOMEDCT:56989000|MEDDRA:10067685|MESH:D015624|DOID:0050214|ORPHA:43393 http://purl.obolibrary.org/obo/MONDO_0018556 myasthenic-myopathic syndrome of Lambert-Eaton|myasthenic syndrome of Lambert-Eaton|Lambert Eaton myasthenic syndrome|Eaton-Lambert syndrome|Lambert-Eaton syndrome|Lambert Eaton syndrome|Eaton Lambert syndrome|LEMS gard_rare|ordo_disease MONDO:0018555 hypogonadotropic hypogonadism biolink:Disease mondo DOID:0090070|HP:0000044|Orphanet:432|NCIT:C113347|ICD9:253.4|ICD10:E23.0|UMLS:CN235466|OMIMPS:147950|SCTID:33927004|DOID:7455 Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. DOID:7455|ORPHA:432|DOID:0090070|SNOMEDCT:33927004|UMLS:CN235466|NCIT:C113347 http://purl.obolibrary.org/obo/MONDO_0018555 normosmic congenital hypogonadotropic hypogonadism|Normosmic idiopathic hypogonadotropic hypogonadism|isolated congenital gonadotropin deficiency|congenital idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism|hypogonadotropic hypogonadism with or without anosmia|isolated hypogonadotropic hypogonadism|hypogonadotropism|low gonadotropins (secondary hypogonadism)|nIHH|hypogonadism, hypogonadotropic|secondary hypogonadism|gonadotropic deficiency|central hypogonadism ordo_disease MONDO:0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder biolink:Disease mondo Orphanet:431320|UMLS:CN237550 ORPHA:431320|UMLS:CN237550 http://purl.obolibrary.org/obo/MONDO_0018550 SPOAN and SPOAN-related disorder ordo_group_of_disorders HP:0030828 Wheezing biolink:PhenotypicFeature mondo MSH:D012135|UMLS:C0043144|SNOMEDCT_US:56018004 A high-pitched whistling sound associated with labored breathing. http://purl.obolibrary.org/obo/HP_0030828 Wheezing MONDO:0018552 urachal sinus biolink:Disease mondo Orphanet:431344|UMLS:CN237553|ICD10:Q64.4|SCTID:451030007 Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. ORPHA:431344|UMLS:CN237553|SNOMEDCT:451030007 http://purl.obolibrary.org/obo/MONDO_0018552 ordo_morphological_anomaly HP:0030829 Abnormal breath sound biolink:PhenotypicFeature mondo SNOMEDCT_US:301273002|UMLS:C0231856 An anomalous (adventitious) sound produced by the breathing process. http://purl.obolibrary.org/obo/HP_0030829 MONDO:0018551 patent urachus (disease) biolink:Disease mondo NCIT:C99005|SCTID:398316009|ICD10:Q64.4|HP:0010479|UMLS:CN237552|Orphanet:431341 Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. ORPHA:431341|NCIT:C99005|UMLS:CN237552|SNOMEDCT:398316009 http://purl.obolibrary.org/obo/MONDO_0018551 patent urachus ordo_morphological_anomaly MONDO:0006558 pemphigoid gestationis biolink:Disease mondo NCIT:C85003|UMLS:C0019343|Orphanet:63275|Wikipedia:Gestational_pemphigoid|DOID:0040098|GARD:0006497|MedDRA:10019939|ICD10:L12.8|ICD10CM:O26.4|DOID:14482|ICD10:O26.4|ICD9:646.80|ICD10:O26.40|MESH:D006559|SCTID:86081009|EFO:1000709 A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever. UMLS:C0019343|NCIT:C85003|MESH:D006559|ORPHA:63275|DOID:0040098|SNOMEDCT:86081009|MEDDRA:10019939|DOID:14482 http://purl.obolibrary.org/obo/MONDO_0006558 gestational pemphigoid|gestational herpes|Herpes gestationis (disorder)|Herpes gestationis NOS (disorder)|pemphigus gestationis|Herpes gestationis|pemphigoid gestationis|Herpes gestationis unspecified (disorder) ordo_disease|gard_rare MONDO:0006559 hidradenitis suppurativa biolink:Disease mondo Wikipedia:Hidradenitis_suppurativa|UMLS:C0162836|SCTID:59393003|MESH:D017497|EFO:1000710|DOID:2280|ICD10:L73.2|COHD:4241223|GARD:0006658 A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident. DOID:2280|MESH:D017497|SNOMEDCT:59393003|UMLS:C0162836 http://purl.obolibrary.org/obo/MONDO_0006559 hidradenitis suppurativa|acne inversa|acne inversa, familial MONDO:0006556 hand dermatosis biolink:Disease mondo EFO:1000706|MESH:D006229|UMLS:C0018567|DOID:3158 Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual. MESH:D006229|UMLS:C0018567|DOID:3158 http://purl.obolibrary.org/obo/MONDO_0006556 MONDO:0006557 hemangioma of subcutaneous tissue biolink:Disease mondo EFO:1000707|SCTID:93473009|UMLS:C0685200|DOID:13081|NCIT:C8540 A hemangioma arising from the subcutaneous soft tissues. SNOMEDCT:93473009|NCIT:C8540|DOID:13081|UMLS:C0685200 http://purl.obolibrary.org/obo/MONDO_0006557 subcutaneous hemangioma|subcutaneous angioma|subcutaneous haemangioma|subcutaneous tissue hemangioma|superficial fascia hemangioma|hemangioma of the subcutaneous tissue|subcutaneous tissue angioma|hemangioma of superficial fascia|angioma of subcutaneous tissue|hemangioma of subcutaneous tissue|angioma of the subcutaneous tissue UBERON:0015172 endometrial blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a endometrium. http://purl.obolibrary.org/obo/UBERON_0015172 blood vessel of endometrium MONDO:0006554 granuloma annulare biolink:Disease mondo Wikipedia:Granuloma_annulare|ICD9:709.8|EFO:1000704|ICD10:L92.0|SCTID:65508009|NCIT:C3470|DOID:3777|MESH:D016460|UMLS:C0085074|GARD:0006546 Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown. MESH:D016460|NCIT:C3470|UMLS:C0085074|SNOMEDCT:65508009|DOID:3777 http://purl.obolibrary.org/obo/MONDO_0006554 granuloma annulare|Granulome annulare gard_rare NCBITaxon:157 Treponema organism taxon mondo PMID:9734025|PMID:9019153|GC_ID:11|PMID:23961314 http://purl.obolibrary.org/obo/NCBITaxon_157 Microspironema|"Spironema" Vuillemin 1905 MONDO:0006555 granulomatous dermatitis biolink:Disease mondo DOID:4397|EFO:1000705|NCIT:C3505|UMLS:C0743086 An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells. UMLS:C0743086|NCIT:C3505|DOID:4397 http://purl.obolibrary.org/obo/MONDO_0006555 MONDO:0006552 folliculitis biolink:Disease mondo EFO:1000702|Wikipedia:Folliculitis|ICD9:704.8|DOID:4409|SCTID:13600006|NCIT:C94408|MESH:D005499 Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds. MESH:D005499|SNOMEDCT:13600006|NCIT:C94408|DOID:4409 http://purl.obolibrary.org/obo/MONDO_0006552 hair follicle dermatitis|dermatitis of hair follicle MONDO:0006553 Fox-Fordyce disease biolink:Disease mondo EFO:1000703|DOID:1381|SCTID:65038009|ICD10:L75.2|GARD:0006462|UMLS:C0016632|NCIT:C84716|MESH:D005588|Wikipedia:Fox-Fordyce_disease|ICD9:705.82 Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants. DOID:1381|MESH:D005588|NCIT:C84716|UMLS:C0016632|SNOMEDCT:65038009 http://purl.obolibrary.org/obo/MONDO_0006553 miliaria, apocrine|apocrine miliaria|Fox-Fordyce disease|Fox-Fordyce syndrome|Fox Fordyce disease gard_rare MONDO:0006550 fibroepithelial polyp of urethra biolink:Disease mondo UMLS:C1336884|EFO:1000700|NCIT:C6170|DOID:8108 A benign polypoid lesion of mesodermal origin that arises from the urethra. DOID:8108|UMLS:C1336884|NCIT:C6170 http://purl.obolibrary.org/obo/MONDO_0006550 fibroepithelial polyp of urethra|skin tag of urethra|urethra skin tag|urethral fibroepithelial polyp|fibroepithelial polyp of the urethra|urethra fibroepithelial polyp CHEBI:34905 paraquat biolink:ChemicalSubstance mondo An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions. http://purl.obolibrary.org/obo/CHEBI_34905 1,1'-Dimethyl-4,4'-bipyridinium|methyl viologen ion(2+)|1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium|paraquat dication|paraquat ion|1,1'-dimethyl-4,4'-bipyridyldiylium|N,N'-dimethyl-4,4'-bipyridinium|dimethyl viologen|Paraquat|N,N'-dimethyl-4,4'-bipyridinium dication UBERON:0015179 somite boundary epithelium biolink:AnatomicalEntity mondo Epithelium located in the intersomitic region. http://purl.obolibrary.org/obo/UBERON_0015179 intersomitic epithelium|intersomitic membrane MONDO:0006551 alopecia mucinosa biolink:Disease mondo EFO:1000701|MESH:D000507|PMID:24350019|ICD9:704.09|UMLS:C0002173|ICD10:L65.2|DOID:9905|NCIT:C82859|SCTID:27382006 A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma. SNOMEDCT:27382006|DOID:9905|UMLS:C0002173|NCIT:C82859|MESH:D000507 http://purl.obolibrary.org/obo/MONDO_0006551 alopecia mucinosis|hair follicle cutaneous focal mucinosis|cutaneous focal mucinosis of hair follicle|alopecia mucinosa|alopecia Mucinosa|follicular mucinosis UBERON:0015178 somite border biolink:AnatomicalEntity mondo A region of somite adjacent to presomitic mesoderm. http://purl.obolibrary.org/obo/UBERON_0015178 intersomitic junction|inter-somited border|somite boundary|intersomitic boundary|intersomitic fissure|segmental border NCBITaxon:43351 Dientamoeba organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43351 MONDO:0018547 acute tricyclic antidepressant poisoning biolink:Disease mondo ICD10:T43.0|UMLS:CN227537|Orphanet:43117 Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death. UMLS:CN227537|ORPHA:43117 http://purl.obolibrary.org/obo/MONDO_0018547 ordo_clinical_situation MONDO:0018546 serotonin syndrome biolink:Disease mondo SCTID:371089000|MESH:D020230|EFO:1001842|ICD9:333.99|Orphanet:43116|MedDRA:10040108 Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs). MESH:D020230|SNOMEDCT:371089000|MEDDRA:10040108|ORPHA:43116|UMLS:C0699828 http://purl.obolibrary.org/obo/MONDO_0018546 serotonin toxicity|serotonin toxidrome|serotonin storm|serotonergic syndrome ordo_disease HP:0003249 Genital ulcers biolink:PhenotypicFeature mondo UMLS:C0151281 http://purl.obolibrary.org/obo/HP_0003249 Genital ulcers MONDO:0018549 late-onset scapuloperoneal muscular dystrophy with hyaline bodies biolink:Disease mondo Orphanet:431263|UMLS:CN237548 ORPHA:431263|UMLS:CN237548 http://purl.obolibrary.org/obo/MONDO_0018549 late-onset scapuloperoneal syndrome, myopathic type|late-onset SPMD with hyaline bodies ordo_group_of_disorders MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect biolink:Disease mondo UMLS:CN227538|Orphanet:43119 Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine. UMLS:CN227538|ORPHA:43119 http://purl.obolibrary.org/obo/MONDO_0018548 ordo_clinical_situation MONDO:0018543 autosomal dominant hypocalcemia biolink:Disease mondo ICD10:E20.8|UMLS:CN205077|DOID:0090109|OMIMPS:601198|GARD:0002877|Orphanet:428|SCTID:711152006 Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. SNOMEDCT:711152006|ORPHA:428|DOID:0090109|UMLS:CN205077 http://purl.obolibrary.org/obo/MONDO_0018543 hypocalcemia, autosomal dominant|hypocalcemia|HYPOC|AD hypocalcemia ordo_clinical_subtype|gard_rare MONDO:0018542 severe congenital neutropenia biolink:Disease mondo ICD9:288.01|DOID:0050590|SCTID:89655007|Orphanet:42738|OMIMPS:202700|MedDRA:10052210|ICD10:D70 MEDDRA:10052210|MESH:C537592|DOID:0050590|SNOMEDCT:89655007|UMLS:C1853118|ORPHA:42738 http://purl.obolibrary.org/obo/MONDO_0018542 neutropenia, severe congenital|SCN ordo_group_of_disorders MONDO:0018545 primary immunodeficiency with predisposition to severe viral infection biolink:Disease mondo Orphanet:431156 ORPHA:431156 http://purl.obolibrary.org/obo/MONDO_0018545 ordo_group_of_disorders MONDO:0018544 X-linked adrenoleukodystrophy biolink:Disease mondo ICD9:341.1|NCIT:C61252|GARD:0005758|MedDRA:10051260|ICD10:E71.52|ICD10:E71.3|ICD10:E71.529|MESH:D000326|DOID:10588|ICD10:G37.0|Orphanet:43 X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. ORPHA:43|DOID:10588|MESH:D000326|UMLS:C0162309|MEDDRA:10051260|NCIT:C61252 http://purl.obolibrary.org/obo/MONDO_0018544 Siemerling-Creutzfeldt disease|X-linked ALD|encephalitis periaxialis, Schilder's|Bronze-Schilder disease|X-ALD|diffuse cerebral sclerosis of Schilder|Schilder disease|X-linked adrenoleukodystrophy|ALD|sudanophilic cerebral sclerosis|adrenoleukodystrophy|diffuse sclerosis|adrenoleukodystrophy, X-linked|Schilder's disease|encephalitis periaxialis concentrica ordo_disease MONDO:0018541 familial hypoaldosteronism biolink:Disease mondo SCTID:715343000|UMLS:CN205074|OMIMPS:103900|ICD10:E27.4|Orphanet:427|UMLS:C4275180 Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). UMLS:C4275180|ORPHA:427|UMLS:CN205074|SNOMEDCT:715343000 http://purl.obolibrary.org/obo/MONDO_0018541 ordo_disease HP:0003241 External genital hypoplasia biolink:PhenotypicFeature mondo UMLS:C1855333 Underdevelopment of part or all of the external reproductive organs. http://purl.obolibrary.org/obo/HP_0003241 Hypogenitalism|Underdevelopment of external reproductive organs|Small genitalia MONDO:0018540 PFAPA syndrome biolink:Disease mondo UMLS:CN205072|GARD:0005657|SCTID:717231003|ICD10:E85.0|Orphanet:42642|NCIT:C116917|UMLS:C4082167 PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. SNOMEDCT:717231003|NCIT:C116917|UMLS:CN205072|ORPHA:42642|UMLS:C4082167 http://purl.obolibrary.org/obo/MONDO_0018540 periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome|periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome|Marshall syndrome|periodic fever, aphthous stomatitis, pharyngitis and adenitis|Marshall syndrome with periodic fever|PFAPA ordo_disease UBERON:0015165 multi-unit eye biolink:AnatomicalEntity mondo An eye consisting of multiple light-sensing organs http://purl.obolibrary.org/obo/UBERON_0015165 MONDO:0006569 leg dermatosis biolink:Disease mondo UMLS:C0023219|DOID:3142|EFO:1000723|MESH:D007868 A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed) MESH:D007868|DOID:3142|UMLS:C0023219 http://purl.obolibrary.org/obo/MONDO_0006569 MONDO:0006567 kernicterus due to isoimmunization biolink:Disease mondo ICD9:773.4|ICD10:P57.0|UMLS:C0270204|NCIT:C101270|EFO:1000721|DOID:12043|SCTID:359007 Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. UMLS:C0270204|SNOMEDCT:359007|NCIT:C101270|DOID:12043 http://purl.obolibrary.org/obo/MONDO_0006567 kernicterus related to isoimmunization|kernicterus due to isoimmunization of fetus or newborn|kernicterus - due to isoimm. MONDO:0006568 obsolete Kimura disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006568 NCBITaxon:168 Treponema pallidum subsp. pertenue organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_168 Treponema pertenue|Treponema pallidum pertenue|yaws treponeme MONDO:0006565 juvenile dermatitis herpetiformis biolink:Disease mondo ICD10:L12.2|ICD9:694.2|DOID:8507|UMLS:C0152092|EFO:1000719|SCTID:5906000 Dermatitis herpetiformis in children DOID:8507|UMLS:C0152092|SNOMEDCT:5906000 http://purl.obolibrary.org/obo/MONDO_0006565 MONDO:0006566 keratosis biolink:Disease mondo UMLS:C0022593|NCIT:C34745|SCTID:254666005|MESH:D007642|EFO:1000720|DOID:161 A skin disorder consisting of hypertrophy of the stratum corneum of the skin. UMLS:C0022593|SNOMEDCT:254666005|DOID:161|NCIT:C34745|NCIT:C34747|MESH:D007642 http://purl.obolibrary.org/obo/MONDO_0006566 keratoderma MONDO:0006563 inverted follicular keratosis biolink:Disease mondo ICD9:264.8|NCIT:C9007|DOID:6945|UMLS:C0334019|EFO:1000717|Wikipedia:Inverted_follicular_keratosis|SCTID:394728005 Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies. SNOMEDCT:394728005|UMLS:C0334019|NCIT:C9007|DOID:6945 http://purl.obolibrary.org/obo/MONDO_0006563 inverted folicular keratosis|inverted follicular keratosis MONDO:0006564 irritant dermatitis biolink:Disease mondo ICD9:692.9|COHD:4004352|ICD10:L24.9|UMLS:C0162823|DOID:2772|MESH:D017453|SCTID:110979008|NCIT:C27151|EFO:1000718|ICD10:L24 An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site. MESH:D017453|SNOMEDCT:110979008|UMLS:C0162823|NCIT:C27151|DOID:2772 http://purl.obolibrary.org/obo/MONDO_0006564 primary irritant dermatitis|irritant contact dermatitis MONDO:0006561 eyelid hypopigmentation biolink:Disease mondo EFO:1000713|UMLS:C0155212|SCTID:68210006|ICD10:H02.73|DOID:11668|ICD9:374.53 Under-production of pigment in the eyelid. DOID:11668|UMLS:C0155212|SNOMEDCT:68210006 http://purl.obolibrary.org/obo/MONDO_0006561 hypopigmentation of eyelid MONDO:0006562 obsolete incontinentia pigmenti achromians biolink:Disease mondo SCTID:218358001|EFO:1000716 SNOMEDCT:218358001 http://purl.obolibrary.org/obo/MONDO_0006562 incontinentia pigmenti syndrome|incontinentia pigmenti achromians syndrome MONDO:0006560 hypohidrosis biolink:Disease mondo EFO:1000712|UMLS:C0020620|SCTID:45004005|DOID:11155|ICD10:L74.4|MESH:D007007|HP:0000966|Wikipedia:Hypodidrosis Reduced sweating. Causes include burns, dehydration, radiation, and leprosy. UMLS:C0020620|SNOMEDCT:45004005|MESH:D007007|NCIT:C34718|DOID:11155 http://purl.obolibrary.org/obo/MONDO_0006560 Oligohidrosis NCBITaxon:160 Treponema pallidum organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_160 Spirillum pallidum|Spirochaeta pallida|Microspironema pallidum|Spironema pallidum MONDO:0018539 rare epithelial tumor of small intestine biolink:Disease mondo UMLS:CN237541|Orphanet:425368 UMLS:CN237541|ORPHA:425368 http://purl.obolibrary.org/obo/MONDO_0018539 rare epithelial tumor of small bowel ordo_group_of_disorders|obsoletion_candidate NCBITaxon:163343 Trichostomatia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_163343 HP:0003256 Abnormality of the coagulation cascade biolink:PhenotypicFeature mondo UMLS:C0005779|SNOMEDCT_US:362970003|MSH:D001778|SNOMEDCT_US:64779008 An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. http://purl.obolibrary.org/obo/HP_0003256 Coagulopathy MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract biolink:Disease mondo ICD10:C24.1|Orphanet:424991|ICD10:C24.0|ICD10:C28.9|ICD10:C23|SCTID:765741003|UMLS:CN237537|ICD10:C24.8 Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. SNOMEDCT:765741003|UMLS:CN237537|ORPHA:424991 http://purl.obolibrary.org/obo/MONDO_0018536 adenocarcinoma of the gallbladder and EBT|adenocarcinoma of gallbladder and EBT|adenocarcinoma of the gallbladder and extrahepatic biliary tract ordo_disease MONDO:0018535 biliary cystadenocarcinoma biolink:Disease mondo Orphanet:424982|ICD10:C22.1|UMLS:C2064409 A cystadenocarcinoma that involves the biliary tree. UMLS:C2064409|ORPHA:424982 http://purl.obolibrary.org/obo/MONDO_0018535 intrahepatic bile duct cystadenocarcinoma ordo_disease MONDO:0018538 inherited digestive cancer-predisposing syndrome biolink:Disease mondo Orphanet:425003|UMLS:CN237539 UMLS:CN237539|ORPHA:425003 http://purl.obolibrary.org/obo/MONDO_0018538 ordo_group_of_disorders MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract biolink:Disease mondo SCTID:766978002|ICD10:C24.1|Orphanet:424996|ICD10:C24.0|ICD10:C23|ICD10:C24.9|ICD10:C24.8|UMLS:CN237538 Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement. SNOMEDCT:766978002|ORPHA:424996|UMLS:CN237538 http://purl.obolibrary.org/obo/MONDO_0018537 squamous cell carcinoma of gallblader and EBT ordo_disease MONDO:0018532 adenocarcinoma of liver and intrahepatic biliary tract biolink:Disease mondo UMLS:CN242181|ICD10:C22.1|ICD10:C22.0|Orphanet:424943 UMLS:CN242181|ORPHA:424943 http://purl.obolibrary.org/obo/MONDO_0018532 adenocarcinoma of the liver and IBT|adenocarcinoma of liver and IBT|adenocarcinoma of the liver and intrahepatic biliary tract ordo_disease MONDO:0018531 carcinoma of liver and intrahepatic biliary tract biolink:Disease mondo NCIT:C7927|ONCOTREE:HCCIHCH|Orphanet:424936|UMLS:C0279000 A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma. NCIT:C7927|UMLS:C0279000|ORPHA:424936 http://purl.obolibrary.org/obo/MONDO_0018531 liver cancer|liver and intrahepatic bile duct cancer|carcinoma of liver|hepatocellular carcinoma plus intrahepatic cholangiocarcinoma|primary liver carcinoma|carcinoma of liver and IBT|liver and intrahepatic bile duct carcinoma|cancer of liver and intrahepatic biliary tract|cancer of the liver and intrahepatic biliary tract|liver and intrahepatic biliary tract cancer|liver carcinoma|hepatic cancer|liver and hepatobiliary cancer, NOS|liver/hepatobiliary cancer|cancer of the liver|cancer of liver|liver and intrahepatic biliary tract carcinoma ordo_group_of_disorders MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract biolink:Disease mondo ICD10:C22.1|ICD10:C22.0|UMLS:CN242131|Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. UMLS:CN242131|ORPHA:424975 http://purl.obolibrary.org/obo/MONDO_0018534 squamous cell carcinoma of liver and IBT ordo_disease MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract biolink:Disease mondo ICD10:C22.7|Orphanet:424970|ICD10:C22.1|ICD10:C22.0|UMLS:CN242153 Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated. UMLS:CN242153|ORPHA:424970 http://purl.obolibrary.org/obo/MONDO_0018533 undifferentiated carcinoma of liver and IBT ordo_disease MONDO:0018530 rare epithelial tumor of liver and intrahepatic biliary tract biolink:Disease mondo UMLS:CN237535|Orphanet:424933 ORPHA:424933|UMLS:CN237535 http://purl.obolibrary.org/obo/MONDO_0018530 rare epithelial tumor of liver and IBT obsoletion_candidate|ordo_group_of_disorders UBERON:0005749 glomerular tuft biolink:AnatomicalEntity mondo The capillary loops of the kidney that normally function as a filtration unit[MP]. http://purl.obolibrary.org/obo/UBERON_0005749 glomerular capillary tuft|glomerulus HGNC:1500 CASP10 biolink:OntologyClass mondo http://identifiers.org/hgnc/1500 GO:0021700 developmental maturation biolink:OntologyClass mondo A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. http://purl.obolibrary.org/obo/GO_0021700 UBERON:0005754 rostral part of nephrogenic cord biolink:AnatomicalEntity mondo The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. http://purl.obolibrary.org/obo/UBERON_0005754 UBERON:0005753 caudal part of nephrogenic cord biolink:AnatomicalEntity mondo The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. http://purl.obolibrary.org/obo/UBERON_0005753 caudal region of nephrogenic cord|rear portion of nephrogenic cord|rear part of nephrogenic cord|caudal portion of nephrogenic cord HGNC:1509 CASP8 biolink:OntologyClass mondo http://identifiers.org/hgnc/1509 GO:0043062 extracellular structure organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/GO_0043062 extracellular structure organization and biogenesis|extracellular structure organisation HGNC:1502 CASP14 biolink:OntologyClass mondo http://identifiers.org/hgnc/1502 GO:0043069 negative regulation of programmed cell death biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. http://purl.obolibrary.org/obo/GO_0043069 down-regulation of programmed cell death|down regulation of programmed cell death|inhibition of programmed cell death|negative regulation of non-apoptotic programmed cell death|downregulation of programmed cell death GO:0043068 positive regulation of programmed cell death biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. http://purl.obolibrary.org/obo/GO_0043068 activation of programmed cell death|stimulation of programmed cell death|upregulation of programmed cell death|positive regulation of non-apoptotic programmed cell death|up-regulation of programmed cell death|up regulation of programmed cell death GO:0043065 positive regulation of apoptotic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. http://purl.obolibrary.org/obo/GO_0043065 upregulation of apoptosis|pro-apoptosis|up-regulation of apoptosis|positive regulation of apoptosis|up regulation of apoptosis|activation of apoptosis|stimulation of apoptosis GO:0043067 regulation of programmed cell death biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. http://purl.obolibrary.org/obo/GO_0043067 regulation of non-apoptotic programmed cell death GO:0043066 negative regulation of apoptotic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. http://purl.obolibrary.org/obo/GO_0043066 down-regulation of apoptosis|down regulation of apoptosis|apoptosis inhibitor activity|downregulation of apoptosis|inhibition of apoptosis|negative regulation of apoptosis|pro-survival|anti-apoptosis NCBITaxon:7148 Nematocera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7148 NCBITaxon:7147 Diptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7147 flies|flies HGNC:1512 CASQ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1512 UBERON:0005745 optic foramen biolink:AnatomicalEntity mondo An opening in the skull through which cranial nerve II passes.[MP]. http://purl.obolibrary.org/obo/UBERON_0005745 optic canal|optic nerve (II) foramen|optic nerve foramen|optic foramen|canalis opticus|foramen opticum ossis sphenoidalis UBERON:0005744 bone foramen biolink:AnatomicalEntity mondo Anatomical space that is an opening in a bone, usually for passage of blood vessels or nerves. http://purl.obolibrary.org/obo/UBERON_0005744 foramens@fr|foramina@fr|foramen UBERON:0005742 adventitia biolink:AnatomicalEntity mondo An outermost connective tissue covering of an organ, vessel, or other structure[WP]. http://purl.obolibrary.org/obo/UBERON_0005742 tunica advetitia|tunica externa UBERON:0005740 tunica intima of artery biolink:AnatomicalEntity mondo A tunica intima that is part of a artery. http://purl.obolibrary.org/obo/UBERON_0005740 tunica interna (intima)(arteriae)|arterial intima HGNC:1515 CAST biolink:OntologyClass mondo http://identifiers.org/hgnc/1515 UBERON:0005729 pectoral appendage field biolink:AnatomicalEntity mondo A limb/fin field that has the potential to develop into a pectoral appendage bud mesenchyme. http://purl.obolibrary.org/obo/UBERON_0005729 pectoral appendage field of lateral plate mesoderm|pectoral fin field UBERON:0005728 extraembryonic mesoderm biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0005728 extra-embryonic mesoderm|extraembryonic mesenchyme HGNC:1516 CAT biolink:OntologyClass mondo http://identifiers.org/hgnc/1516 HGNC:1513 CASQ2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1513 NCBITaxon:1485168 Longamoebia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1485168 HGNC:1514 CASR biolink:OntologyClass mondo http://identifiers.org/hgnc/1514 UBERON:0005726 chemosensory system biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005726 UBERON:0005734 tunica adventitia of blood vessel biolink:AnatomicalEntity mondo The outermost layer of a blood vessel, composed mainly of fibrous tissue. http://purl.obolibrary.org/obo/UBERON_0005734 tunica externa vasorum|tunica adventitia|tunica adventitia of vessel|tunica adventitia vasorum|external coat|adventitia externa UBERON:0005733 limb field biolink:AnatomicalEntity mondo A ring of cells capable of forming a limb. http://purl.obolibrary.org/obo/UBERON_0005733 limb field of lateral plate mesoderm UBERON:0005732 paired limb/fin field biolink:AnatomicalEntity mondo A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. http://purl.obolibrary.org/obo/UBERON_0005732 limb/fin field of lateral plate mesoderm|paired limb/fin field UBERON:0005730 pelvic appendage field biolink:AnatomicalEntity mondo A limb/fin field that has the potential to develop into a pelvic appendage bud mesenchyme. http://purl.obolibrary.org/obo/UBERON_0005730 pelvic appendage field of lateral plate mesoderm|pelvic fin field GO:0043085 positive regulation of catalytic activity biolink:OntologyClass mondo Any process that activates or increases the activity of an enzyme. http://purl.obolibrary.org/obo/GO_0043085 up-regulation of metalloenzyme activity|stimulation of metalloenzyme activity|up-regulation of enzyme activity|activation of metalloenzyme activity|upregulation of metalloenzyme activity|up regulation of enzyme activity|activation of enzyme activity|positive regulation of enzyme activity|positive regulation of metalloenzyme activity|stimulation of enzyme activity|up regulation of metalloenzyme activity|upregulation of enzyme activity UBERON:0005719 footplate apical ectodermal ridge biolink:AnatomicalEntity mondo An apical ectodermal ridge that is part of a footplate. http://purl.obolibrary.org/obo/UBERON_0005719 HGNC:1529 CAV3 biolink:OntologyClass mondo http://identifiers.org/hgnc/1529 GO:0043084 penile erection biolink:OntologyClass mondo The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. http://purl.obolibrary.org/obo/GO_0043084 HGNC:1527 CAV1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1527 GO:0043086 negative regulation of catalytic activity biolink:OntologyClass mondo Any process that stops or reduces the activity of an enzyme. http://purl.obolibrary.org/obo/GO_0043086 negative regulation of enzyme activity|down-regulation of enzyme activity|downregulation of metalloenzyme activity|down regulation of enzyme activity|down regulation of metalloenzyme activity|inhibition of enzyme activity|downregulation of enzyme activity|negative regulation of metalloenzyme activity|inhibition of metalloenzyme activity|down-regulation of metalloenzyme activity UBERON:0005725 olfactory system biolink:AnatomicalEntity mondo A sensory system that is capable of olfacttion (the sensory perception of smell). http://purl.obolibrary.org/obo/UBERON_0005725 UBERON:0005724 roof plate spinal cord region biolink:AnatomicalEntity mondo A tissue that is part of a spinal cord and is part of a roof plate. http://purl.obolibrary.org/obo/UBERON_0005724 roof plate spinal cord|roofplate spinal cord|spinal cord roof HP:0030809 Abnormal tongue morphology biolink:PhenotypicFeature mondo UMLS:C4280755 Any structural anomaly of the tongue. http://purl.obolibrary.org/obo/HP_0030809 UBERON:0005721 pronephric mesoderm biolink:AnatomicalEntity mondo A mesoderm that has the potential to develop into a pronephros. http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesenchyme|pronephric bulge|pronephric primordium|pronephric anlage GO:0055065 metal ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0055065 UBERON:0005720 hindbrain venous system biolink:AnatomicalEntity mondo A venous system that is part of a hindbrain. http://purl.obolibrary.org/obo/UBERON_0005720 rhombencephalon venous system HGNC:1530 MICU1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1530 GO:0055067 monovalent inorganic cation homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. http://purl.obolibrary.org/obo/GO_0055067 GO:0055072 iron ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0055072 iron homeostasis GO:0055074 calcium ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0055074 regulation of calcium ion concentration UBERON:0005792 nephric ridge biolink:AnatomicalEntity mondo Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. http://purl.obolibrary.org/obo/UBERON_0005792 nephric cord FOODON:00002403 food material biolink:OntologyClass mondo Food material is any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience http://purl.obolibrary.org/obo/FOODON_00002403 foodstuff|sustenance|food|nourishment GO:0055070 copper ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0055070 copper homeostasis NCBITaxon:7178 Culex tritaeniorhynchus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7178 UBERON:0003135 male reproductive organ biolink:AnatomicalEntity mondo A male organ involved in reproduction http://purl.obolibrary.org/obo/UBERON_0003135 male reproductive system organ|reproductive organ of male organism|reproductive structure of male organism|male organism sex organ|male organism reproductive structure|male organism reproductive system organ|male organism reproductive organ|reproductive system organ of male organism|sex organ of male organism|male sex organ|male reproductive gland/organ GO:0055076 transition metal ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/GO_0055076 HGNC:1540 SERPINA6 biolink:OntologyClass mondo http://identifiers.org/hgnc/1540 HGNC:1541 CBL biolink:OntologyClass mondo http://identifiers.org/hgnc/1541 UBERON:0003133 reproductive organ biolink:AnatomicalEntity mondo An organ involved in reproduction http://purl.obolibrary.org/obo/UBERON_0003133 genitalia|sex organ|genital organ|reproductive system organ GO:0055078 sodium ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0055078 UBERON:0003134 female reproductive organ biolink:AnatomicalEntity mondo A female organ involved in reproduction http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive system organ|reproductive organ of female organism|reproductive structure of female organism|female organism sex organ|female organism reproductive system organ|female organism reproductive structure|reproductive system organ of female organism|female organism reproductive organ|sex organ of female organism|female reproductive gland/organ|female sex organ UBERON:0005795 embryonic uterus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005795 fetal uterus NCBITaxon:7174 Culex organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7174 Culex MONDO:0006507 hereditary hemochromatosis biolink:Disease mondo GARD:0010746|DOID:2352|EFO:1000642|NCIT:C84481|MESH:D006432|ICD10:E83.11|OMIMPS:235200|ICD10:E83.110|ICD10:E83.119|SCTID:399187006|COHD:4148231 An inherited metabolic disorder characterized by iron accumulation in the tissues. DOID:2352|MESH:D006432|SNOMEDCT:399187006|NCIT:C84481 http://purl.obolibrary.org/obo/MONDO_0006507 iron storage disorder|hemochromatosis, hereditary|haemochromatosis|diabetes bronze|hemochromatosis MONDO:0006508 obsolete infantile epileptic encephalopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006508 MONDO:0006505 basal ganglia cerebrovascular disease biolink:Disease mondo MESH:D020144|EFO:1000640|DOID:10991|UMLS:C0751739 A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis). DOID:10991|UMLS:C0751739|MESH:D020144 http://purl.obolibrary.org/obo/MONDO_0006505 collection of basal ganglia cerebrovascular disorder|cerebrovascular disorder of collection of basal ganglia MONDO:0006506 congenital nonspherocytic hemolytic anemia biolink:Disease mondo EFO:1000641|ICD9:282.3|MESH:D000746|SCTID:301317008|UMLS:C0002882|DOID:2861 Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase. UMLS:C0002882|SNOMEDCT:301317008|MESH:D000746|DOID:2861 http://purl.obolibrary.org/obo/MONDO_0006506 hereditary nonspherocytic hemolytic anemia|HNSHA MONDO:0006503 obsolete episodic ataxia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006503 MONDO:0006504 acquired metabolic disease biolink:Disease mondo DOID:0060158|EFO:1000639 An instance of metabolic disease that is acquired during the lifetime of the individual. DOID:0060158 http://purl.obolibrary.org/obo/MONDO_0006504 acquired metabolic disease MONDO:0006501 obsolete inflammatory skin disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006501 UBERON:0003119 pharyngeal arch artery 2 biolink:AnatomicalEntity mondo The vessels formed within the second pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/UBERON_0003119 hyoid aortic arch|AA2|2nd aortic arch artery|second aortic arch|aortic arch 2|2nd pharyngeal arch artery|2nd arch artery|second branchial arch artery|2nd branchial arch artery HGNC:1546 SERPINH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1546 MONDO:0006502 acute respiratory distress syndrome biolink:Disease mondo MedDRA:10001052|COHD:4195694|NCIT:C3353|GARD:0005698|EFO:1000637|ICD10:J80 Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition. NCIT:C3353 http://purl.obolibrary.org/obo/MONDO_0006502 acute lung injury|acute respiratory distress syndrome|ARDS|non-cardiogenic pulmonary edema|increased-permeability pulmonary edema|ALI|shock lung|Stiff lung gard_rare MONDO:0006500 hemangioma biolink:Disease mondo ICD9:228.0|MESH:D006391|ICD10:D18.0|SCTID:400210000|UMLS:C0018916|ONCOTREE:HEMA|ICDO:9120/0|COHD:441818|ICD9:228.00|HP:0001028|DOID:255|ICD10:D18.00|GARD:0010759|EFO:1000635|NCIT:C3085|ICD9:228.09 A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. DOID:255|SNOMEDCT:400210000|MESH:D006391|UMLS:C0018916|NCIT:C3085 http://purl.obolibrary.org/obo/MONDO_0006500 hemangioma|benign angioma|benign hemangioma|angioma|hemangioma, benign UBERON:0003120 pharyngeal arch artery 3 biolink:AnatomicalEntity mondo The vessels formed within the third pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/UBERON_0003120 3rd pharyngeal arch artery|aortic arch 3|third branchial arch artery|3rd arch artery|3rd branchial arch artery|3rd aortic arch artery|third aortic arch|AA3|carotid arch UBERON:0003121 pharyngeal arch artery 4 biolink:AnatomicalEntity mondo The vessels formed within the fourth pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/UBERON_0003121 4th aortic arch artery|aortic arch 4|fourth branchial arch artery|4th pharyngeal arch artery|4th arch artery|systemic arch|4th branchial arch artery|fourth aortic arch|AA4 GO:0055085 transmembrane transport biolink:OntologyClass mondo The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0055085 membrane transport|ATP hydrolysis coupled transmembrane transport GO:0055086 nucleobase-containing small molecule metabolic process biolink:OntologyClass mondo The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. http://purl.obolibrary.org/obo/GO_0055086 nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside and nucleotide metabolism NCBITaxon:7180 Haemagogus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7180 Haemagogus GO:0055080 cation homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of cations within an organism or cell. http://purl.obolibrary.org/obo/GO_0055080 GO:0055081 anion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of anions within an organism or cell. http://purl.obolibrary.org/obo/GO_0055081 GO:0055082 cellular chemical homeostasis biolink:OntologyClass mondo Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. http://purl.obolibrary.org/obo/GO_0055082 UBERON:0003128 cranium biolink:AnatomicalEntity mondo Upper portion of the skull that excludes the mandible (when present in the organism). http://purl.obolibrary.org/obo/UBERON_0003128 calvarium|upper part of skull|skull minus mandible|bones of cranium|epicranial plate|skeletal system of head|ossa cranii|set of bones of cranium UBERON:0003129 skull biolink:AnatomicalEntity mondo Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. http://purl.obolibrary.org/obo/UBERON_0003129 cranial skeleton|skeletal system of head UBERON:0003126 trachea biolink:AnatomicalEntity mondo The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]. http://purl.obolibrary.org/obo/UBERON_0003126 cartilaginous trachea|vertebrate trachea|tracheal tubule|windpipe NCBITaxon:70999 Triatominae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_70999 kissing bugs UBERON:0005788 lamina rara interna biolink:AnatomicalEntity mondo Layer of the glomerular basement membrane adjacent to the glomerular capillary. http://purl.obolibrary.org/obo/UBERON_0005788 lamina interna of glomerular basement membrane|internal layer of glomerular basement membrane UBERON:0003124 chorion membrane biolink:AnatomicalEntity mondo the outermost extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0003124 fetal chorion|chorion|chorion frondosum|chorion (vertebrates)|embryonic chorion|chorionic sac|uterine chorion HGNC:1552 CBX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1552 GO:0055088 lipid homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. http://purl.obolibrary.org/obo/GO_0055088 UBERON:0003123 pharyngeal arch artery 6 biolink:AnatomicalEntity mondo The vessels formed within the sixth pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/UBERON_0003123 aortic arch 6|sixth aortic arch|6th aortic arch artery|pulmonary arch|6th arch artery|6th pharyngeal arch artery|6th branchial arch artery|sixth branchial arch artery|AA6 HGNC:1550 CBS biolink:OntologyClass mondo http://identifiers.org/hgnc/1550 UBERON:0017750 proximal mesopodial endochondral element biolink:AnatomicalEntity mondo A mesopodial endochondral element that is in the most proximal part of the mesopodial skeleton, connected to the zeugopodial skeleton. http://purl.obolibrary.org/obo/UBERON_0017750 UBERON:0017751 proximal mesopodial cartilage element biolink:AnatomicalEntity mondo A proximal mesopodial endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0017751 FOODON:00002420 has ingredient biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00002420 UBERON:0003110 otic region biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0003110 cranial vault GO:0055092 sterol homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of sterol within an organism or cell. http://purl.obolibrary.org/obo/GO_0055092 UBERON:0003117 pharyngeal arch 6 biolink:AnatomicalEntity mondo The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles http://purl.obolibrary.org/obo/UBERON_0003117 fourth branchial arch|6th pharyngeal arch|branchial arch 4|visceral arch 6|6th visceral arch|sixth pharyngeal arch|sixth branchial arch|6th arch|sixth visceral arch|gill arch 4 UBERON:0003118 pharyngeal arch artery 1 biolink:AnatomicalEntity mondo The vessels formed within the first pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/UBERON_0003118 1st aortic arch artery|first branchial arch artery|1st arch artery|1st pharyngeal arch artery|1st branchial arch artery|AA1|first arch artery|aortic arch 1|first aortic arch|mandibular aortic arch UBERON:0003115 pharyngeal arch 4 biolink:AnatomicalEntity mondo contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus http://purl.obolibrary.org/obo/UBERON_0003115 4th visceral arch|branchial arch 2|fourth visceral arch|visceral arch 4|4th branchial arch|second branchial arch|4th arch|fourth pharyngeal arch|second gill arch|4th pharyngeal arch|gill arch 2 NCBITaxon:7157 Culicidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7157 mosquitos|mosquitos CHEBI:58953 saturated fatty acid anion biolink:ChemicalSubstance mondo Any fatty acid anion in which there is no C-C unsaturation. http://purl.obolibrary.org/obo/CHEBI_58953 saturated fatty acid anions UBERON:0005777 glomerular basement membrane biolink:AnatomicalEntity mondo the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter http://purl.obolibrary.org/obo/UBERON_0005777 glomerular filtration membrane|glomerular capillary basement membrane|GBM UBERON:0003113 dermatocranium biolink:AnatomicalEntity mondo Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. http://purl.obolibrary.org/obo/UBERON_0003113 dermal part of skull|roofing bones of the skull|dendrocranium|skull exoskeleton|dermal skull bones|dermal bone cranium|skull roof|exocranium|roof of skull|dermal skull roof|dermatocranial cover UBERON:0003114 pharyngeal arch 3 biolink:AnatomicalEntity mondo The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. http://purl.obolibrary.org/obo/UBERON_0003114 3rd pharyngeal arch|first gill arch|third visceral arch|branchial arch 1|first branchial arch|visceral arch 3|3rd arch|3rd visceral arch|third pharyngeal arch|gill arch 1 CHEBI:58951 short-chain fatty acid anion biolink:ChemicalSubstance mondo Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C6). http://purl.obolibrary.org/obo/CHEBI_58951 a short-chain fatty acid|short-chain fatty acid anions UBERON:0003111 sphenoid region biolink:AnatomicalEntity mondo Anatomical cluster that forms the floor and sidewalls of the middle part of the cranium. http://purl.obolibrary.org/obo/UBERON_0003111 UBERON:0003112 olfactory region biolink:AnatomicalEntity mondo Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ. http://purl.obolibrary.org/obo/UBERON_0003112 ethmoid region CHEBI:46963 2-aminooctadecene-1,3-diol biolink:ChemicalSubstance mondo An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2. http://purl.obolibrary.org/obo/CHEBI_46963 2-aminooctadecene-1,3-diols|2-aminooctadecene-1,3-diol CHEBI:46964 2-aminooctadec-4-ene-1,3-diol biolink:ChemicalSubstance mondo A 2-aminooctadecene-1,3-diol having its double bond at position 4. http://purl.obolibrary.org/obo/CHEBI_46964 2-aminooctadec-4-ene-1,3-diol|2-aminooctadec-4-ene-1,3-diols CHEBI:46965 (2R,3S)-2-aminooctadec-4-ene-1,3-diol biolink:ChemicalSubstance mondo A 2-aminooctadec-4-ene-1,3-diol having (2R,3S)-configuration. http://purl.obolibrary.org/obo/CHEBI_46965 (2R,3S)-2-aminooctadec-4-ene-1,3-diol NCBITaxon:7162 Ochlerotatus triseriatus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7162 Aedes triseriatus UBERON:0005760 urorectal septum biolink:AnatomicalEntity mondo The ridge of mesoderm covered with endoderm that in the early developing embryo partitions the endodermal cloaca into the primary urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally); the urorectal septum eventually fuses with the cloacal membrane, dividing it into a dorsal anal membrane and a larger ventral urogenital membrane - this area of fusion is represented in the adult by the perineal body[MP]. http://purl.obolibrary.org/obo/UBERON_0005760 urorectal membrane|urorectal fold|septum urorectale|cloacal septum HP:0005832 Dysharmonic delayed bone age biolink:PhenotypicFeature mondo UMLS:C1859444 A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. http://purl.obolibrary.org/obo/HP_0005832 CHEBI:46967 L-erythro-sphingosine biolink:ChemicalSubstance mondo A (2R,3S)-2-aminooctadec-4-ene-1,3-diol in which the double bond has E geochemistry. http://purl.obolibrary.org/obo/CHEBI_46967 L-erythro-sphing-4-enine|(2R,3S,4E)-2-aminooctadec-4-ene-1,3-diol|L-Erythro-c18-sphingosine CHEBI:58945 organophosphate oxoanion biolink:ChemicalSubstance mondo An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated. http://purl.obolibrary.org/obo/CHEBI_58945 organophosphate oxoanions UBERON:0005769 basement membrane of epithelium biolink:AnatomicalEntity mondo An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane|basement membrane of connective tissue|membrana basalis UBERON:0003104 mesenchyme biolink:AnatomicalEntity mondo Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyma|portion of mesenchymal tissue|mesenchymal tissue|portion of mesenchyme tissue|mesenchyme tissue UBERON:0003102 surface structure biolink:AnatomicalEntity mondo Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. http://purl.obolibrary.org/obo/UBERON_0003102 surface region|surface feature|surface structures|anatomical surface feature HGNC:1573 KRIT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1573 NCBITaxon:7165 Anopheles gambiae organism taxon mondo PMID:16076241|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7165 Anopheles gambiae sensu stricto|African malaria mosquito|Anopheles gambiae S UBERON:0003103 compound organ biolink:AnatomicalEntity mondo Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. http://purl.obolibrary.org/obo/UBERON_0003103 organ UBERON:0005764 acellular membrane biolink:AnatomicalEntity mondo A acellular anatomical structure that is the bounding layer of a anatomical structure. http://purl.obolibrary.org/obo/UBERON_0005764 UBERON:0003100 female organism biolink:AnatomicalEntity mondo Gonochoristic organism that can produce female gametes. http://purl.obolibrary.org/obo/UBERON_0003100 female human body|female NCBITaxon:7164 Anopheles organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7164 Anopheles UBERON:0003101 male organism biolink:AnatomicalEntity mondo Gonochoristic organism that can produce male gametes. http://purl.obolibrary.org/obo/UBERON_0003101 male human body|male GO:0031226 intrinsic component of plasma membrane biolink:OntologyClass mondo The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/GO_0031226 intrinsic to plasma membrane GO:0070838 divalent metal ion transport biolink:OntologyClass mondo The directed movement of divalent metal cations, any metal ion with a +2 electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0070838 GO:0043217 myelin maintenance biolink:OntologyClass mondo The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath. http://purl.obolibrary.org/obo/GO_0043217 GO:0031224 intrinsic component of membrane biolink:OntologyClass mondo The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. http://purl.obolibrary.org/obo/GO_0031224 intrinsic to membrane HGNC:18085 TMEM199 biolink:OntologyClass mondo http://identifiers.org/hgnc/18085 HGNC:18083 TRPV4 biolink:OntologyClass mondo http://identifiers.org/hgnc/18083 HGNC:18084 TRPV3 biolink:OntologyClass mondo http://identifiers.org/hgnc/18084 GO:0006281 DNA repair biolink:OntologyClass mondo The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. http://purl.obolibrary.org/obo/GO_0006281 GO:0006282 regulation of DNA repair biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of DNA repair. http://purl.obolibrary.org/obo/GO_0006282 GO:0043227 membrane-bounded organelle biolink:OntologyClass mondo Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0043227 membrane-enclosed organelle GO:0043226 organelle biolink:OntologyClass mondo Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0043226 GO:0043229 intracellular organelle biolink:OntologyClass mondo Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0043229 GO:0043228 non-membrane-bounded organelle biolink:OntologyClass mondo Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/GO_0043228 non-membrane-enclosed organelle NCBITaxon:236781 Tineinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_236781 HGNC:18053 PKD1L1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18053 GO:0043234 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0043234 NCBITaxon:474019 Sarcoptinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_474019 GO:0043233 organelle lumen biolink:OntologyClass mondo The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. http://purl.obolibrary.org/obo/GO_0043233 GO:0043235 receptor complex biolink:OntologyClass mondo Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/GO_0043235 GO:0045893 positive regulation of transcription, DNA-templated biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/GO_0045893 upregulation of transcription, DNA-dependent|stimulation of gene-specific transcription|up regulation of gene-specific transcription|positive regulation of cellular transcription, DNA-dependent|positive regulation of gene-specific transcription|positive regulation of transcription, DNA-dependent|stimulation of transcription, DNA-dependent|up regulation of transcription, DNA-dependent|upregulation of gene-specific transcription|activation of gene-specific transcription|activation of transcription, DNA-dependent|up-regulation of transcription, DNA-dependent|transcription activator activity|up-regulation of gene-specific transcription GO:0043230 extracellular organelle biolink:OntologyClass mondo Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. http://purl.obolibrary.org/obo/GO_0043230 GO:0043232 intracellular non-membrane-bounded organelle biolink:OntologyClass mondo Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-enclosed organelle GO:0045892 negative regulation of transcription, DNA-templated biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/GO_0045892 inhibition of gene-specific transcription|negative regulation of cellular transcription, DNA-dependent|negative regulation of gene-specific transcription|down-regulation of gene-specific transcription|downregulation of transcription, DNA-dependent|down regulation of gene-specific transcription|transcription repressor activity|down regulation of transcription, DNA-dependent|downregulation of gene-specific transcription|inhibition of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|down-regulation of transcription, DNA-dependent GO:0043231 intracellular membrane-bounded organelle biolink:OntologyClass mondo Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-enclosed organelle GO:0070859 positive regulation of bile acid biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. http://purl.obolibrary.org/obo/GO_0070859 upregulation of bile acid biosynthetic process|positive regulation of bile acid anabolism|positive regulation of bile acid biosynthesis|up regulation of bile acid biosynthetic process|positive regulation of bile acid synthesis|stimulation of bile acid biosynthetic process|up-regulation of bile acid biosynthetic process|positive regulation of bile acid formation|activation of bile acid biosynthetic process GO:0070857 regulation of bile acid biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. http://purl.obolibrary.org/obo/GO_0070857 regulation of bile acid synthesis|regulation of bile acid formation|regulation of bile acid biosynthesis|regulation of bile acid anabolism HGNC:33699 KHDC3L biolink:OntologyClass mondo http://identifiers.org/hgnc/33699 GO:0070858 negative regulation of bile acid biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. http://purl.obolibrary.org/obo/GO_0070858 inhibition of bile acid biosynthetic process|down-regulation of bile acid biosynthetic process|negative regulation of bile acid biosynthesis|negative regulation of bile acid anabolism|downregulation of bile acid biosynthetic process|negative regulation of bile acid synthesis|down regulation of bile acid biosynthetic process|negative regulation of bile acid formation HGNC:18062 GPT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18062 GO:0006259 DNA metabolic process biolink:OntologyClass mondo Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. http://purl.obolibrary.org/obo/GO_0006259 cellular DNA metabolism|DNA metabolism HGNC:18060 ARX biolink:OntologyClass mondo http://identifiers.org/hgnc/18060 GO:0043244 regulation of protein-containing complex disassembly biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. http://purl.obolibrary.org/obo/GO_0043244 regulation of protein complex disassembly GO:0043243 positive regulation of protein-containing complex disassembly biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. http://purl.obolibrary.org/obo/GO_0043243 up regulation of protein complex disassembly|activation of protein complex disassembly|stimulation of protein complex disassembly|positive regulation of protein complex disassembly|upregulation of protein complex disassembly|up-regulation of protein complex disassembly GO:0043242 negative regulation of protein-containing complex disassembly biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. http://purl.obolibrary.org/obo/GO_0043242 down-regulation of protein complex disassembly|down regulation of protein complex disassembly|negative regulation of protein complex disassembly|downregulation of protein complex disassembly|inhibition of protein complex disassembly FOODON:03400352 international agency food product type biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0352 Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008. http://purl.obolibrary.org/obo/FOODON_03400352 MONDO:0043361 May-Thurner syndrome biolink:Disease mondo UMLS:C3165062|MESH:D062108|GARD:0012141|SCTID:448804008 A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation. SNOMEDCT:448804008|MESH:D062108|UMLS:C3165062 http://purl.obolibrary.org/obo/MONDO_0043361 Iliac vein compression syndrome|iliac vein compression syndrome|May-Thurner syndrome|Iliocaval compression syndromes|compression syndromes, Iliocaval|syndrome, May-Thurner|syndrome, Cockett|May Thurner syndrome|compression syndrome, Iliocaval|syndrome, Iliocaval compression|Iliocaval compression syndrome|syndromes, Iliocaval compression|Cockett syndrome gard_rare HGNC:21686 RNASET2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21686 GO:0033844 galactose-6-sulfurylase activity biolink:OntologyClass mondo Catalysis of the elimination of sulfate from the D-galactose 6-sulfate residues of porphyran, producing 3,6-anhydrogalactose residues. http://purl.obolibrary.org/obo/GO_0033844 galactose 6-sulfatase activity|galactose-6-sulfatase activity|D-galactose-6-sulfate:alkyltransferase (cyclizing) activity|porphyran sulfatase activity GO:0043255 regulation of carbohydrate biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates. http://purl.obolibrary.org/obo/GO_0043255 regulation of carbohydrate anabolism|regulation of carbohydrate synthesis|regulation of carbohydrate biosynthesis|regulation of carbohydrate formation GO:0043254 regulation of protein-containing complex assembly biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein complex assembly. http://purl.obolibrary.org/obo/GO_0043254 regulation of protein complex assembly MONDO:0043364 eosinophil peroxidase deficiency biolink:Disease mondo SCTID:711160007|UMLS:C1850000|MESH:C564893|GARD:0012361|OMIM:261500 http://identifiers.org/omim/261500|SNOMEDCT:711160007|MESH:C564893|UMLS:C1850000 http://purl.obolibrary.org/obo/MONDO_0043364 presentey anomaly|eosinophil peroxidase deficiency; EPXD|EPXD|eosinophil peroxidase deficiency, partial|peroxidase and phospholipid deficiency in eosinophils|Presentey anomaly|eosinophil peroxidase deficiency, Partial|eosinophil peroxidase deficiency gard_rare GO:0070875 positive regulation of glycogen metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glycogen. http://purl.obolibrary.org/obo/GO_0070875 positive regulation of glycogen metabolism GO:0070873 regulation of glycogen metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glycogen. http://purl.obolibrary.org/obo/GO_0070873 regulation of glycogen metabolism GO:0070874 negative regulation of glycogen metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glycogen. http://purl.obolibrary.org/obo/GO_0070874 negative regulation of glycogen metabolism MONDO:0043370 secondary adrenal insufficiency biolink:Disease mondo NCIT:C62602|GARD:0012735|UMLS:C0948387|UMLS:C0271738|SCTID:16685009 A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex. NCIT:C62602|UMLS:C0948387|SNOMEDCT:16685009|UMLS:C0271738 http://purl.obolibrary.org/obo/MONDO_0043370 central adrenal insufficiency|secondary adrenal insufficiency|secondary hypocortisolism|central Hypoadrenalism|secondary adrenocortical insufficiency|hypocortisolism secondary to another disorder gard_rare HGNC:21694 POU6F2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21694 HGNC:21699 CERKL biolink:OntologyClass mondo http://identifiers.org/hgnc/21699 HGNC:21698 RNF216 biolink:OntologyClass mondo http://identifiers.org/hgnc/21698 HGNC:18040 ARID1B biolink:OntologyClass mondo http://identifiers.org/hgnc/18040 MONDO:0043377 juvenile spondyloarthropathy biolink:Disease mondo UMLS:C0409676|GARD:0012939|SCTID:239806000|NCIT:C114347 A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood. NCIT:C114347|UMLS:C0409676|SNOMEDCT:239806000 http://purl.obolibrary.org/obo/MONDO_0043377 JSpA|juvenile spondyloarthropathy|juvenile Spondyloarthritis gard_rare GO:0043269 regulation of ion transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0043269 MONDO:0043373 sudden sensorineural hearing loss biolink:Disease mondo MESH:D003639|GARD:0012927|UMLS:C4275242|SCTID:715239002 Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning. UMLS:C4275242|MESH:D003639|SNOMEDCT:715239002 http://purl.obolibrary.org/obo/MONDO_0043373 sudden hearing loss|deafness, sudden|sudden deafness|sudden sensorineural hearing loss|acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma gard_rare GO:0018215 protein phosphopantetheinylation biolink:OntologyClass mondo The modification of a protein amino acid by phosphopantetheinylation. http://purl.obolibrary.org/obo/GO_0018215 protein amino acid phosphopantetheinylation GO:0043270 positive regulation of ion transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0043270 up regulation of ion transport|activation of ion transport|stimulation of ion transport|upregulation of ion transport|up-regulation of ion transport UBERON:0005808 bone tissue of long bone biolink:AnatomicalEntity mondo A bone tissue that is part of a long bone. http://purl.obolibrary.org/obo/UBERON_0005808 osseous tissue of long bone GO:0043271 negative regulation of ion transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0043271 down-regulation of ion transport|down regulation of ion transport|downregulation of ion transport|inhibition of ion transport UBERON:0005806 portal system biolink:AnatomicalEntity mondo In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. http://purl.obolibrary.org/obo/UBERON_0005806 portal venous system GO:0006206 pyrimidine nucleobase metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. http://purl.obolibrary.org/obo/GO_0006206 pyrimidine metabolic process|pyrimidine base metabolism|pyrimidine metabolism|pyrimidine base metabolic process UBERON:0005805 dorsal aorta biolink:AnatomicalEntity mondo The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. http://purl.obolibrary.org/obo/UBERON_0005805 aorta dorsalis|DA|aortae dorsales|dorsal aortic root|dorsal aortæ|dorsal aortae|dorsal aorta root UBERON:0005813 tubercle biolink:AnatomicalEntity mondo A round nodule, small eminence, or warty outgrowth found on bones, skin, or within the lungs in tuberculosis. They are also found on the leading edge of Humpback Whale's flippers, improving fluid flow over the flipper's surface[WP]. http://purl.obolibrary.org/obo/UBERON_0005813 FOODON:03400306 nut or seed product (us cfr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0306 http://purl.obolibrary.org/obo/FOODON_03400306 HGNC:18021 TMC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/18021 HGNC:21679 RSPO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21679 GO:0070887 cellular response to chemical stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/GO_0070887 UBERON:0005800 section of aorta biolink:AnatomicalEntity mondo Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. http://purl.obolibrary.org/obo/UBERON_0005800 segment of aorta|aortic section|portion of aorta|aortic segment HGNC:18025 COA6 biolink:OntologyClass mondo http://identifiers.org/hgnc/18025 HGNC:21642 VARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21642 MONDO:0018361 neonatal scleroderma biolink:Disease mondo ICD10:P83.8|Orphanet:398127 ORPHA:398127 http://purl.obolibrary.org/obo/MONDO_0018361 ordo_disease MONDO:0018360 neonatal lupus erythematosus biolink:Disease mondo MESH:C536397|GARD:0009563|EFO:0004537|UMLS:C0409979|NCIT:C99236|Orphanet:398124|SCTID:95609003|ICD10:M32.8 A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. UMLS:C0409979|MESH:C536397|SNOMEDCT:95609003|ORPHA:398124|NCIT:C99236 http://purl.obolibrary.org/obo/MONDO_0018360 neonatal lupus|congenital lupus|neonatal lupus syndrome|neonatal systemic lupus erythematosus|congenital lupus erythematosus|neonatal SLE ordo_disease HGNC:21641 TSPAN12 biolink:OntologyClass mondo http://identifiers.org/hgnc/21641 HGNC:21645 CHCHD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21645 MONDO:0006378 pleural epithelioid mesothelioma biolink:Disease mondo EFO:1000484|UMLS:C1709574|NCIT:C45662 Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns. NCIT:C45662|UMLS:C1709574 http://purl.obolibrary.org/obo/MONDO_0006378 pleura malignant epithelioid mesothelioma|pleural epithelioid mesothelioma|malignant epithelioid mesothelioma of pleura MONDO:0006379 obsolete pleural mesothelioma (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006379 MONDO:0006376 obsolete plantar fibromatosis biolink:Disease mondo A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. http://purl.obolibrary.org/obo/MONDO_0006376 MONDO:0006377 pleural biphasic mesothelioma biolink:Disease mondo EFO:1000483|NCIT:C45665|UMLS:C1709570 Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor. NCIT:C45665|UMLS:C1709570 http://purl.obolibrary.org/obo/MONDO_0006377 pleural biphasic mesothelioma MONDO:0006374 placental choriocarcinoma biolink:Disease mondo DOID:2024|SCTID:448401007|NCIT:C8893|UMLS:C0855173|EFO:1000479 Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur. DOID:2024|NCIT:C8893|UMLS:C0855173|SNOMEDCT:448401007 http://purl.obolibrary.org/obo/MONDO_0006374 placenta choriocarcinoma (disease)|choriocarcinoma of the placenta|choriocarcinoma of placenta|placental choriocarcinoma|placenta choriocarcinoma MONDO:0006375 placental hemangioma biolink:Disease mondo EFO:1000480|NCIT:C4868|DOID:277|ICD9:219.8|UMLS:C0677608|SCTID:237268002 A hemangioma arising from the fetal blood vessels in the placental villi. NCIT:C4868|UMLS:C0677608|SNOMEDCT:237268002|DOID:277 http://purl.obolibrary.org/obo/MONDO_0006375 Chorangioma|hemangioma of the placenta|angioma of the placenta|Chorangioma placentae|placental angioma|chorioangioma|Chorangioma of the placenta|placental hemangioma|placenta hemangioma|hemangioma of placenta|angioma of placenta|hemangioma of placenta MONDO:0006372 pituicytoma biolink:Disease mondo UMLS:C2986550|ICD9:237.0|NCIT:C94524|Orphanet:251623|ONCOTREE:PTCY|EFO:1000477|SCTID:608817003|ICDO:9432/1|ICD10:C71.9 An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido. SNOMEDCT:608817003|UMLS:C2986550|ORPHA:251623|NCIT:C94524 http://purl.obolibrary.org/obo/MONDO_0006372 PTCY|pituicytoma (WHO grade I)|posterior pituitary astrocytoma|pituicytoma ordo_disease MONDO:0043320 piriformis syndrome biolink:Disease mondo NCIT:C85012|UMLS:C0458224|SCTID:129179000|GARD:0010026|MESH:D055958 A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica. SNOMEDCT:129179000|UMLS:C0458224|MESH:D055958|NCIT:C85012 http://purl.obolibrary.org/obo/MONDO_0043320 pelvic outlet syndrome|syndrome, piriformis muscle|wallet sciatica|syndromes, piriformis muscle|piriformis syndrome|piriformis muscle syndrome|piriformis muscle syndromes|deep gluteal syndrome|Pseudosciatica|muscle syndromes, piriformis|syndromes, piriformis|syndrome, piriformis|muscle syndrome, piriformis|hip socket neuropathy|piriformis syndromes|pyriformis syndrome gard_rare MONDO:0006373 pituitary gland adenoma biolink:Disease mondo MedDRA:10035079|Orphanet:99408|ICDO:8272/0|NCIT:C3329|UMLS:C0032000|SCTID:254956000|DOID:3829|EFO:1000478|ICD10:D35.2|ONCOTREE:PTAD|OMIMPS:102200 A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss. DOID:3829|UMLS:C0032000|NCIT:C3329|SNOMEDCT:254956000|ORPHA:99408|MEDDRA:10035079 http://purl.obolibrary.org/obo/MONDO_0006373 adenoma of pituitary gland|pituitary gland adenoma|adenoma of the pituitary|adenoma of pituitary|PTAD|adenoma, anterior lobe pituitary gland, benign|pituitary adenoma|adenoma of the pituitary gland ordo_group_of_disorders MONDO:0006370 obsolete pineoblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006370 MONDO:0006371 obsolete pineocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006371 MONDO:0043317 amyopathic dermatomyositis biolink:Disease mondo SCTID:238935002|UMLS:C0406645|GARD:0009907|MESH:C538250 Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. MESH:C538250|UMLS:C0406645|SNOMEDCT:238935002 http://purl.obolibrary.org/obo/MONDO_0043317 ADM|dermatomyositis sine myositis|amyopathic dermatomyositis gard_rare MONDO:0018367 obsolete clear cell adenocarcinoma of ovary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018367 HGNC:21637 SATB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21637 MONDO:0018366 obsolete mucinous adenocarcinoma of ovary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018366 MONDO:0018369 immature ovarian teratoma biolink:Disease mondo UMLS:C0346182|SCTID:254871000|UMLS:CN205036|ONCOTREE:OIMT|NCIT:C8111|DOID:6331|Orphanet:398987|ICD10:C56 A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients. UMLS:CN205036|ORPHA:398987|SNOMEDCT:254871000|UMLS:C0346182|DOID:6331|NCIT:C8111 http://purl.obolibrary.org/obo/MONDO_0018369 malignant teratoma of ovary|immature germ cell teratoma of the ovary|immature germ cell teratoma of ovary|immature teratoma|ovarian malignant teratoma|ovarian germ cell immature teratoma|malignant teratoma of the ovary|malignant ovarian germ cell teratoma|ovarian immature germ cell teratoma|immature teratoma of the ovary|ovarian immature teratoma|immature teratoma of ovary|immature ovarian teratoma|ovary malignant teratoma|malignant ovarian teratoma|malignant germ cell teratoma of the ovary|malignant germ cell teratoma of ovary ordo_disease MONDO:0018368 primary peritoneal serous/papillary carcinoma biolink:Disease mondo Orphanet:398980|ICD10:C48.8|UMLS:CN205035|UMLS:C1368918|ICD10:C48.2|ICD10:C48.1|NCIT:C7695|ICD10:C48.0|DOID:6228 UMLS:C1368918|NCIT:C7695|UMLS:CN205035|ORPHA:398980|DOID:6228 http://purl.obolibrary.org/obo/MONDO_0018368 primary peritoneal serous papillary adenocarcinoma|primary serous papillary carcinoma of peritoneum|peritoneal serous papillary adenocarcinoma|PPSPC|primary peritoneal serous papillary carcinoma ordo_disease MONDO:0018363 focal facial dermal dysplasia biolink:Disease mondo Orphanet:398166|ICD10:Q82.8|OMIMPS:136500|DC:0000521 Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. ORPHA:398166 http://purl.obolibrary.org/obo/MONDO_0018363 FFDD ordo_malformation_syndrome MONDO:0018362 persistent idiopathic facial pain biolink:Disease mondo ICD10:G50.1|COHD:137856|Orphanet:398147 ORPHA:398147 http://purl.obolibrary.org/obo/MONDO_0018362 AFP|atypical facial pain|PIFP ordo_disease MONDO:0018365 malignant non-epithelial tumor of ovary biolink:Disease mondo UMLS:CN205032|Orphanet:398940 UMLS:CN205032|ORPHA:398940 http://purl.obolibrary.org/obo/MONDO_0018365 ovarian malignant non-epithelial tumor|ovarian non-epithelial cancer|non-epithelial cancer of ovary ordo_group_of_disorders MONDO:0018364 malignant epithelial tumor of ovary biolink:Disease mondo MESH:C538090|DOID:2151|SCTID:254849005|NCIT:C40026|Orphanet:398934|GARD:0009362 An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor. DOID:2151|ORPHA:398934|NCIT:C40026|SNOMEDCT:254849005|MESH:C538090 http://purl.obolibrary.org/obo/MONDO_0018364 ovarian stromal cancer|ovarian epithelial tumor, malignant|epithelial cancer of ovary|ovarian epithelial cancer|ovarian malignant epithelial tumor|malignant ovarian surface epithelial-stromal neoplasm|malignant ovarian epithelial tumor|malignant ovarian surface epithelial-stromal tumor ordo_group_of_disorders MONDO:0018350 obsolete malignant tumor of penis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018350 HGNC:21653 TOPORS biolink:OntologyClass mondo http://identifiers.org/hgnc/21653 HGNC:21652 OSTM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21652 MONDO:0006389 prostate rhabdomyosarcoma biolink:Disease mondo DOID:3252|UMLS:C1335518|EFO:1000498|NCIT:C5522 A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate. DOID:3252|NCIT:C5522|UMLS:C1335518 http://purl.obolibrary.org/obo/MONDO_0006389 prostate gland rhabdomyosarcoma|rhabdomyosarcoma of prostate|prostate rhabdomyosarcoma|rhabdomyosarcoma (disease) of prostate gland|prostate gland rhabdomyosarcoma (disease)|rhabdomyosarcoma of the prostate MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma biolink:Disease mondo UMLS:C1709666|EFO:1000495|NCIT:C45605 A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis. NCIT:C45605|UMLS:C1709666 http://purl.obolibrary.org/obo/MONDO_0006387 diffuse large B-cell lymphoma of lung|high grade MALT lymphoma of the lung|primary pulmonary diffuse large B-cell lymphoma|lung diffuse large B-cell lymphoma|pulmonary diffuse large B-cell lymphoma MONDO:0006388 prolactin-producing pituitary gland carcinoma biolink:Disease mondo NCIT:C5962|EFO:1000497|UMLS:C1334614 A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin. NCIT:C5962|UMLS:C1334614 http://purl.obolibrary.org/obo/MONDO_0006388 malignant prolactin secreting tumor of the pituitary gland|malignant prolactin secreting tumor of pituitary gland|malignant prolactin producing tumor|malignant prolactin secreting tumor of the pituitary|malignant prolactin secreting tumor of pituitary|malignant prolactinoma of the pituitary gland|malignant prolactin producing pituitary neoplasm|malignant prolactinoma of pituitary gland|malignant prolactin secreting neoplasm of the pituitary gland|malignant prolactinoma of the pituitary|malignant prolactin producing pituitary gland neoplasm|malignant prolactin secreting neoplasm of pituitary gland|malignant prolactinoma of pituitary|malignant prolactin secreting pituitary gland tumor|malignant prolactin secreting neoplasm of the pituitary|malignant prolactinoma|malignant prolactin secreting neoplasm of pituitary|prolactin-producing pituitary gland carcinoma|malignant prolactin secreting pituitary tumor|PRL producing pituitary gland carcinoma|malignant prolactin secreting pituitary neoplasm|malignant prolactin producing neoplasm of the pituitary gland|malignant prolactin producing tumor of the pituitary gland|malignant prolactin producing tumor of pituitary gland|prolactin producing pituitary gland carcinoma|malignant pituitary prolactinoma|malignant prolactin producing neoplasm of pituitary gland|malignant prolactin secreting pituitary gland neoplasm|malignant prolactin producing pituitary gland tumor|malignant prolactin producing tumor of the pituitary|malignant prolactin producing neoplasm of the pituitary|malignant prolactin producing tumor of pituitary|malignant pituitary gland prolactinoma|malignant prolactin producing neoplasm of pituitary|malignant prolactin producing pituitary tumor MONDO:0006385 primary intraosseous squamous cell carcinoma biolink:Disease mondo EFO:1000492|NCIT:C54295|UMLS:C1709663 A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor. NCIT:C54295|UMLS:C1709663 http://purl.obolibrary.org/obo/MONDO_0006385 PIOSCC MONDO:0043330 Mirizzi syndrome biolink:Disease mondo Orphanet:521219|EFO:1001860|MESH:D057792|GARD:0010177|SCTID:4283007|UMLS:C0267878 Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever. MESH:D057792|UMLS:C0267878|SNOMEDCT:4283007|ORPHA:521219 http://purl.obolibrary.org/obo/MONDO_0043330 syndrome, Mirizzi's|Mirizzi's syndrome|hepatic duct dystonia syndrome|mirizzi's syndrome|Mirizzis syndrome|Mirizzi syndrome|syndrome, Mirizzi gard_rare|ordo_clinical_syndrome MONDO:0006386 primary peritoneal serous adenocarcinoma biolink:Disease mondo UMLS:C1514429|NCIT:C40023|EFO:1000494 A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity. NCIT:C40023|UMLS:C1514429 http://purl.obolibrary.org/obo/MONDO_0006386 primary peritoneal serous adenocarcinoma MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type biolink:Disease mondo EFO:1000490|UMLS:C1709656|ICD10:C83.3|NCIT:C45194|Orphanet:178544|ICDO:9680/3 An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required. UMLS:C1709656|ORPHA:178544|NCIT:C45194 http://purl.obolibrary.org/obo/MONDO_0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type|PCDLBCL,LT ordo_disease MONDO:0006384 obsolete primary effusion lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006384 GO:0045806 negative regulation of endocytosis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis. http://purl.obolibrary.org/obo/GO_0045806 downregulation of endocytosis|inhibition of endocytosis|down-regulation of endocytosis|down regulation of endocytosis MONDO:0006381 plexiform ameloblastoma biolink:Disease mondo NCIT:C39753|EFO:1000487|UMLS:C0457529 A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma. NCIT:C39753|UMLS:C0457529 http://purl.obolibrary.org/obo/MONDO_0006381 MONDO:0006382 poorly differentiated thyroid gland carcinoma biolink:Disease mondo ICDO:8337/3|NCIT:C6040|EFO:1000489|ONCOTREE:THPD|UMLS:C1266050 An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004) UMLS:C1266050|NCIT:C6040 http://purl.obolibrary.org/obo/MONDO_0006382 insular carcinoma|poorly differentiated carcinoma of the thyroid gland|poorly differentiated carcinoma of thyroid gland|poorly differentiated thyroid gland carcinoma|thyroid gland poorly differentiated carcinoma|poorly differentiated thyroid cancer|poorly differentiated thyroid carcinoma|poorly differentiated thyroid gland cancer GO:0045807 positive regulation of endocytosis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of endocytosis. http://purl.obolibrary.org/obo/GO_0045807 up-regulation of endocytosis|up regulation of endocytosis|activation of endocytosis|stimulation of endocytosis|upregulation of endocytosis MONDO:0006380 pleural sarcomatoid mesothelioma biolink:Disease mondo NCIT:C45663|EFO:1000486|UMLS:C1709578 Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma. UMLS:C1709578|NCIT:C45663 http://purl.obolibrary.org/obo/MONDO_0006380 pleura sarcomatoid mesothelioma|pleural sarcomatoid mesothelioma|sarcomatoid mesothelioma of pleura MONDO:0043327 cerebrospinal fluid leak biolink:Disease mondo MESH:D065634|SCTID:230744007|GARD:0010166 Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA). SNOMEDCT:230744007|MESH:D065634 http://purl.obolibrary.org/obo/MONDO_0043327 Leaks, cerebrospinal fluid|fluid leakage, cerebrospinal|cerebrospinal fluid Drainages|fluid Drainages, cerebrospinal|cerebrospinal fluid leakage|cerebrospinal fluid leakage, post-traumatic|csf - cerebrospinal fluid leak|cerebrospinal fluid leakage, spontaneous|spinal CSF leak|leak, cerebrospinal fluid|fluid leak, cerebrospinal|fluid Leaks, cerebrospinal|cerebrospinal fluid leakage, post traumatic|CSF leak|cerebrospinal fluid leak, spontaneous|cerebrospinal fluid leakage, traumatic|cerebrospinal fluid Leakages|Leakages, cerebrospinal fluid|fluid drainage, cerebrospinal|drainage, cerebrospinal fluid|cerebrospinal fluid drainage|fluid Leakages, cerebrospinal|cerebrospinal fluid drainage, post-traumatic|CSF rhinorrhea|spinal cerebrospinal fluid leak|spinal cerebrospinal fluid leak, post-traumatic|spinal cerebrospinal fluid leak, spontaneous|cerebrospinal fluid leak|cerebrospinal fluid drainage, spontaneous|cerebrospinal fluid drainage, post traumatic|cerebrospinal fluid leak, traumatic|cerebrospinal fluid leak, post-traumatic|cerebrospinal fluid Leaks|leakage, cerebrospinal fluid|Drainages, cerebrospinal fluid|spinal cerebrospinal fluid leak, post traumatic|spinal cerebrospinal fluid leak, traumatic|CSF otorrhea|cerebrospinal fluid leak, post traumatic|cerebrospinal fluid drainage, traumatic gard_rare MONDO:0018359 neonatal dermatomyositis biolink:Disease mondo Orphanet:398117|ICD10:M33.1 ORPHA:398117 http://purl.obolibrary.org/obo/MONDO_0018359 neonatal DM ordo_disease MONDO:0018356 secondary neonatal autoimmune disease biolink:Disease mondo UMLS:CN226097|Orphanet:398091 ORPHA:398091|UMLS:CN226097 http://purl.obolibrary.org/obo/MONDO_0018356 Transplacentally acquired neonatal autoimmune disease ordo_group_of_disorders MONDO:0018355 Prader-Willi-like syndrome due to point mutation biolink:Disease mondo Orphanet:398079|ICD10:Q87.1|UMLS:CN226095 ORPHA:398079|UMLS:CN226095 http://purl.obolibrary.org/obo/MONDO_0018355 PWS-like due to point mutation|PWS-like due to a point mutation|Prader-Willi-like syndrome due to a point mutation ordo_clinical_subtype MONDO:0018358 neonatal autoimmune hemolytic anemia biolink:Disease mondo Orphanet:398109|ICD10:D59.1 ORPHA:398109 http://purl.obolibrary.org/obo/MONDO_0018358 neonatal AHA|neonatal AIHA ordo_disease MONDO:0018357 neonatal antiphospholipid syndrome biolink:Disease mondo ICD10:D68.6|UMLS:CN226098|Orphanet:398097 ORPHA:398097|UMLS:CN226098 http://purl.obolibrary.org/obo/MONDO_0018357 neonatal antiphospholipid antibody syndrome|neonatal Hughes syndrome ordo_disease MONDO:0018352 squamous cell carcinoma of penis biolink:Disease mondo ICD10:C60.9|ICD10:C60.8|Orphanet:398058|SCTID:403468003|ONCOTREE:PSCC|UMLS:C0238348|ICD10:C60.2|ICD10:C60.1|ICD10:C60.0|DOID:5518|NCIT:C7729 A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004) NCIT:C7729|SNOMEDCT:403468003|UMLS:C0238348|DOID:5518|ORPHA:398058 http://purl.obolibrary.org/obo/MONDO_0018352 epidermoid carcinoma of the penis|epidermoid carcinoma of penis|penile squamous car.(epidermoid)|epidermoid cell carcinoma of the penis|penile epidermoid cell carcinoma|PSCC|squamous cell carcinoma of penis|penile epidermoid carcinoma|penile squamous cell carcinoma|squamous cell carcinoma of the penis|penile squamous carcinoma (epidermoid)|penis squamous cell carcinoma|penile squamous cell cancer|epidermoid cell carcinoma of penis ordo_disease MONDO:0018351 adenocarcinoma of penis biolink:Disease mondo Orphanet:398053|ICD10:C60.9|ICD10:C60.8|ICD10:C60.2|ICD10:C60.1|ICD10:C60.0 A adenocarcinoma that involves the penis. ORPHA:398053 http://purl.obolibrary.org/obo/MONDO_0018351 adenocarcinoma of the penis|penis adenocarcinoma|penile adenocarcinoma ordo_disease MONDO:0018354 Prader-Willi-like syndrome biolink:Disease mondo ICD10:Q87.1|Orphanet:398073|UMLS:CN226094 Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities. ORPHA:398073|UMLS:CN226094 http://purl.obolibrary.org/obo/MONDO_0018354 PWS-like ordo_disease MONDO:0018353 refractory celiac disease biolink:Disease mondo ICD10:K90.0|Orphanet:398063|EFO:0009266|UMLS:CN226092 Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia. ORPHA:398063|UMLS:CN226092 http://purl.obolibrary.org/obo/MONDO_0018353 intractable celiac sprue|refractory sprue|type I refractory sprue|type II refractory sprue|refractory CD ordo_disease MONDO:0021994 Berk-Tabatznik syndrome biolink:Disease mondo GARD:0005109|UMLS:C2930899|MESH:C535432 UMLS:C2930899|MESH:C535432 http://purl.obolibrary.org/obo/MONDO_0021994 kyphosis brachyphalangy optic atrophy|Berk Tabatznik syndrome|cleft nare, brachydactyly, short stature-dwarfism|congenital optic atrophy and brachytelephalangy|cleft nare, brachydactyly, short stature dwarfism|short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges gard_rare MONDO:0006358 parotid gland squamous cell carcinoma biolink:Disease mondo EFO:1000463|NCIT:C5942|UMLS:C1335367 An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain. NCIT:C5942|UMLS:C1335367 http://purl.obolibrary.org/obo/MONDO_0006358 parotid squamous cell carcinoma|parotid gland squamous cell carcinoma|squamous cell carcinoma of the parotid gland|squamous cell carcinoma of parotid gland|squamous cell carcinoma of the parotid|squamous cell carcinoma of parotid MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation biolink:Disease mondo EFO:1000464|ONCOTREE:PECOMA|NCIT:C38150|MESH:D054973|DOID:2643|UMLS:C1300127 A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. UMLS:C1300127|MESH:D054973|DOID:2643|NCIT:C38150 http://purl.obolibrary.org/obo/MONDO_0006359 neoplasm with perivascular epithelioid cell differentiation|PEComa|perivascular epithelioid cell tumor|tumor with perivascular epithelioid cell differentiation MONDO:0006356 parotid gland adenoid cystic carcinoma biolink:Disease mondo SCTID:423615009|DOID:0050931|UMLS:C1335355|EFO:1000459|NCIT:C5937 An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. DOID:0050931|UMLS:C1335355|NCIT:C5937|SNOMEDCT:423615009 http://purl.obolibrary.org/obo/MONDO_0006356 parotid gland adenoid cystic carcinoma|parotid adenoid cystic carcinoma|adenoid cystic carcinoma of the parotid gland|adenoid cystic carcinoma of parotid gland|adenoid cystic carcinoma of the parotid|adenoid cystic carcinoma of parotid MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma biolink:Disease mondo EFO:1000461|NCIT:C5974|UMLS:C1335356|SCTID:425127006 A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. SNOMEDCT:425127006|UMLS:C1335356|NCIT:C5974 http://purl.obolibrary.org/obo/MONDO_0006357 parotid gland carcinoma ex pleomorphic adenoma|parotid carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of the parotid gland|carcinoma ex pleomorphic adenoma of parotid gland|carcinoma ex pleomorphic adenoma of the parotid|carcinoma ex pleomorphic adenoma of parotid MONDO:0006354 parathyroid hyperplasia (disease) biolink:Disease mondo UMLS:C0271844|HP:0008208|NCIT:C3989|EFO:1000457|SCTID:9092004 A hyperplasia that involves the parathyroid gland. UMLS:C0271844|SNOMEDCT:9092004|NCIT:C3989 http://purl.obolibrary.org/obo/MONDO_0006354 hyperplasia of the parathyroid|parathyroid gland hyperplasia|hyperplasia of parathyroid|parathyroid hyperplasia CHEBI:83876 cationic sphingoid biolink:ChemicalSubstance mondo An organic cation obtained by protonation of the amino function of any sphingoid http://purl.obolibrary.org/obo/CHEBI_83876 cationic sphingoids|sphingoid cations|sphingoid cation MONDO:0006355 parotid gland acinic cell carcinoma biolink:Disease mondo UMLS:C1335353|EFO:1000458|NCIT:C5933 An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area. UMLS:C1335353|NCIT:C5933 http://purl.obolibrary.org/obo/MONDO_0006355 parotid acinic cell carcinoma|parotid gland acinar cell carcinoma|acinic cell carcinoma of the parotid gland|acinic cell carcinoma of parotid gland|acinic cell carcinoma of the parotid|parotid gland acinic cell carcinoma|acinic cell carcinoma of parotid MONDO:0043346 progressive transformation of germinal centers biolink:Disease mondo GARD:0010712|MESH:C548085|NCIT:C38408 Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma. MESH:C548085|NCIT:C38408 http://purl.obolibrary.org/obo/MONDO_0043346 progressive transformation of Germinal centers|PTGC gard_rare MONDO:0006352 paranasal sinus adenoid cystic carcinoma biolink:Disease mondo UMLS:C1335337|NCIT:C6019|EFO:1000454 A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases. NCIT:C6019|UMLS:C1335337 http://purl.obolibrary.org/obo/MONDO_0006352 accessory sinus adenoid cystic carcinoma|paranasal sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the paranasal sinus|adenoid cystic carcinoma of paranasal sinus|adenoid cystic carcinoma of the accessory sinus|adenoid cystic carcinoma of accessory sinus MONDO:0006353 paranasal sinus Schneiderian papilloma biolink:Disease mondo NCIT:C6835|EFO:1000455|UMLS:C1335343 A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma. NCIT:C6835|UMLS:C1335343 http://purl.obolibrary.org/obo/MONDO_0006353 Schneiderian papilloma of the paranasal sinus|Schneiderian papilloma of paranasal sinus|accessory sinus Schneiderian papilloma|paranasal sinus Schneiderian papilloma|Schneiderian papilloma of the accessory sinus|Schneiderian papilloma of accessory sinus MONDO:0043343 Chilaiditi syndrome biolink:Disease mondo SCTID:14911005|MESH:D059269|GARD:0010685 Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition. SNOMEDCT:14911005|MESH:D059269 http://purl.obolibrary.org/obo/MONDO_0043343 syndrome, Chilaiditi|anomaly, Chilaiditi's|Chilaiditi anomaly|Chilaiditis anomaly|Chilaiditi's syndrome|syndrome, Chilaiditi's|subphrenic interposition syndrome|Chilaiditi's anomaly|Chilaiditis syndrome|anomaly, Chilaiditi|hepatodiaphragmatic colonic interposition|chilaiditi's syndrome gard_rare MONDO:0006350 papillary transitional cell carcinoma biolink:Disease mondo EFO:1000450|UMLS:C0334274|DOID:4012|ICDO:8130/3|NCIT:C4122 A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. NCIT:C4122|UMLS:C0334274|DOID:4012 http://purl.obolibrary.org/obo/MONDO_0006350 papillary transitional carcinoma|papillary transitional cell carcinoma (morphologic abnormality)|papillary transitional cell carcinoma MONDO:0006351 parachordoma biolink:Disease mondo EFO:1000452|ICDO:9373/1|ICDO:9373/0|UMLS:C1266175|NCIT:C6581|DOID:2647|SCTID:404086000 A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities. DOID:2647|NCIT:C6581|UMLS:C1266175|SNOMEDCT:404086000 http://purl.obolibrary.org/obo/MONDO_0006351 parachordoma MONDO:0018349 MAN1B1-CDG biolink:Disease mondo Orphanet:397941|ICD10:E77.8|SCTID:733450008|UMLS:C4518783|GARD:0012417 (9q34.3). SNOMEDCT:733450008|ORPHA:397941|UMLS:C4518783 http://purl.obolibrary.org/obo/MONDO_0018349 congenital disorder of glycosylation type II due to MAN1B1 deficiency|congenital disorder of glycosylation type 2 due to MAN1B1 deficiency|carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency|intellectual disability-truncal obesity syndrome ordo_disease|gard_rare MONDO:0018348 polyglucosan body myopathy type 1 biolink:Disease mondo ICD10:E74.0|Orphanet:397937 ORPHA:397937 http://purl.obolibrary.org/obo/MONDO_0018348 PGBM1 ordo_disease NCBITaxon:114292 typhus group organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_114292 MONDO:0043339 lathyrism biolink:Disease mondo EFO:1001776|MESH:D007842|SCTID:5724005|GARD:0010441 A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus. SNOMEDCT:5724005|MESH:D007842 http://purl.obolibrary.org/obo/MONDO_0043339 Lathyrus species poisoning|vetchling poisoning|lathyrism|Neurolathyrism gard_rare MONDO:0018345 obsolete T+ B+ severe combined immunodeficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018345 MONDO:0018344 periodic paralysis with transient compartment-like syndrome biolink:Disease mondo UMLS:CN226077|ICD10:G72.3|Orphanet:397755 ORPHA:397755|UMLS:CN226077 http://purl.obolibrary.org/obo/MONDO_0018344 ordo_disease MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:397933|UMLS:CN226082 ORPHA:397933|UMLS:CN226082 http://purl.obolibrary.org/obo/MONDO_0018347 severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome|IQSEC2-related syndromic intellectual disability ordo_disease MONDO:0018346 ferro-cerebro-cutaneous syndrome biolink:Disease mondo UMLS:CN226080|ICD10:G23.0|Orphanet:397922 ORPHA:397922|UMLS:CN226080 http://purl.obolibrary.org/obo/MONDO_0018346 cerebro-cutaneous syndrome with iron overload ordo_disease MONDO:0018341 3q27.3 microdeletion syndrome biolink:Disease mondo Orphanet:397695|ICD10:Q93.5|UMLS:CN225942 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. UMLS:CN225942|ORPHA:397695 http://purl.obolibrary.org/obo/MONDO_0018341 Del(3)(q27.3) ordo_disease MONDO:0018340 hereditary isolated aplastic anemia biolink:Disease mondo ICD10:D61.0|Orphanet:397692 ORPHA:397692 http://purl.obolibrary.org/obo/MONDO_0018340 ordo_disease MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy biolink:Disease mondo Orphanet:397750|ICD10:G72.3 ORPHA:397750 http://purl.obolibrary.org/obo/MONDO_0018343 ordo_disease MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy biolink:Disease mondo SCTID:733418003|UMLS:C4518774|Orphanet:397715|ICD10:Q04.3|UMLS:CN225944 Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. UMLS:CN225944|ORPHA:397715|SNOMEDCT:733418003|UMLS:C4518774 http://purl.obolibrary.org/obo/MONDO_0018342 JBTS with JATD|Joubert syndrome with JATD ordo_malformation_syndrome MONDO:0006369 pineal parenchymal tumor of intermediate differentiation biolink:Disease mondo NCIT:C6967|SCTID:715904005|EFO:1000474|GARD:0010644|UMLS:C1367859|ONCOTREE:PPTID|DOID:5030 A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO) UMLS:C1367859|SNOMEDCT:715904005|NCIT:C6967|DOID:5030 http://purl.obolibrary.org/obo/MONDO_0006369 pineal parenchymal tumor of intermediate differentiation|pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)|pineal parenchymal tumors of intermediate differentiation|PPTID|pineal parenchymal tumour of intermediate differentiation MONDO:0006367 pharyngeal adenoid cystic carcinoma biolink:Disease mondo NCIT:C5818|EFO:1000472|UMLS:C1335399 An adenoid cystic carcinoma that arises from the pharynx. UMLS:C1335399|NCIT:C5818 http://purl.obolibrary.org/obo/MONDO_0006367 adenoid cystic carcinoma of the pharynx|adenoid cystic carcinoma of pharynx|pharyngeal adenoid cystic carcinoma|pharyngeal throat adenoid cystic cancer|pharynx adenoid cystic carcinoma GO:0045820 negative regulation of glycolytic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis. http://purl.obolibrary.org/obo/GO_0045820 downregulation of glycolysis|down regulation of glycolysis|inhibition of glycolysis|down-regulation of glycolysis MONDO:0043355 collagenous gastritis biolink:Disease mondo GARD:0010961|NCIT:C122082|SCTID:711499009|UMLS:C4040043 A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis. SNOMEDCT:711499009|UMLS:C4040043|NCIT:C122082 http://purl.obolibrary.org/obo/MONDO_0043355 collagenous gastritis gard_rare GO:0045821 positive regulation of glycolytic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of glycolysis. http://purl.obolibrary.org/obo/GO_0045821 up regulation of glycolysis|stimulation of glycolysis|up-regulation of glycolysis|activation of glycolysis|upregulation of glycolysis MONDO:0006368 phosphaturic mesenchymal tumor biolink:Disease mondo EFO:1000473|UMLS:C1831619|NCIT:C67237 An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor. UMLS:C1831619|NCIT:C67237 http://purl.obolibrary.org/obo/MONDO_0006368 phosphaturic mesenchymal tumor, mixed connective tissue variant|phosphaturic mesenchymal tumor|phosphaturic mesenchymal tumor, mixed connective tissue type MONDO:0043358 engraftment syndrome biolink:Disease mondo SCTID:426768001|GARD:0011909|UMLS:C0919746|NCIT:C63324 A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation. UMLS:C0919746|NCIT:C63324|SNOMEDCT:426768001 http://purl.obolibrary.org/obo/MONDO_0043358 engraftment syndrome gard_rare MONDO:0006365 Peutz-Jeghers polyp biolink:Disease mondo EFO:1000470|NCIT:C4733 A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002 NCIT:C4733 http://purl.obolibrary.org/obo/MONDO_0006365 Peutz-Jeghers polyp|Peutz Jeghers polyp MONDO:0006366 Peutz-Jeghers polyp of the stomach biolink:Disease mondo EFO:1000471|NCIT:C36205|UMLS:C1335398 A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium. UMLS:C1335398|NCIT:C36205 http://purl.obolibrary.org/obo/MONDO_0006366 Gastric Peutz-Jeghers polyp MONDO:0043352 fournier gangrene biolink:Disease mondo SCTID:398318005|GARD:0010912|UMLS:C0238419|MESH:D018934 An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease. SNOMEDCT:398318005|MESH:D018934|UMLS:C0238419 http://purl.obolibrary.org/obo/MONDO_0043352 fournier's gangrene|gangrene, Fournier|fournier gangrene|gangrene, Fournier's|Fournier disease|Fournier's gangrene|Fourniers gangrene|Fournier's disease|Fourniers disease gard_rare MONDO:0006363 peritoneal multicystic mesothelioma biolink:Disease mondo NCIT:C6536|SCTID:716650003|ICD10:C45.1|Orphanet:168816|EFO:1000468|GARD:0010777|UMLS:C1334818 A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare. SNOMEDCT:716650003|NCIT:C6536|ORPHA:168816|UMLS:C1334818 http://purl.obolibrary.org/obo/MONDO_0006363 benign cystic peritoneal mesothelioma|peritoneal multicystic mesothelioma|peritoneal cystic mesothelioma|multilocular peritoneal inclusion cyst|multilocular peritoneal cysts|BMPM|multilocular peritoneal inclusion cysts|multicystic mesothelioma of peritoneum|multicystic mesothelioma|benign multicystic peritoneal mesothelioma|multicystic mesothelioma of the peritoneum ordo_disease MONDO:0006364 peritoneal well differentiated papillary mesothelioma biolink:Disease mondo NCIT:C45661|UMLS:C1709507|EFO:1000469 A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma. NCIT:C45661|UMLS:C1709507 http://purl.obolibrary.org/obo/MONDO_0006364 peritoneal WDPM|peritoneal well differentiated papillary mesothelioma MONDO:0006361 penile fibromatosis biolink:Disease mondo EFO:1000466|NCIT:C3316 Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect. NCIT:C3316 http://purl.obolibrary.org/obo/MONDO_0006361 penile fibromatosis|Peyronie's disease|penile induration|penis fibromatosis|Peyronie's fibromatosis MONDO:0006362 peritoneal mesothelioma (disease) biolink:Disease mondo ICD10:C45.1|NCIT:C7633|HP:0100003|ONCOTREE:PEMESO|EFO:1000467|SCTID:109853004 A benign or malignant mesothelial neoplasm that arises from the peritoneum. SNOMEDCT:109853004|NCIT:C7633 http://purl.obolibrary.org/obo/MONDO_0006362 peritoneal mesothelioma|peritoneum mesothelioma|mesothelioma of peritoneum|mesothelioma of the peritoneum GO:0045828 positive regulation of isoprenoid metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. http://purl.obolibrary.org/obo/GO_0045828 upregulation of isoprenoid metabolic process|up regulation of isoprenoid metabolic process|positive regulation of isoprenoid metabolism|stimulation of isoprenoid metabolic process|up-regulation of isoprenoid metabolic process|activation of isoprenoid metabolic process MONDO:0006360 penile carcinoma biolink:Disease mondo DOID:3449|NCIT:C9061|GARD:0009366|SCTID:372106005|EFO:1000465 A carcinoma that arises from epithelial cells of the penis DOID:3449|NCIT:C9061|SNOMEDCT:372106005 http://purl.obolibrary.org/obo/MONDO_0006360 penile cancer, NOS|penis carcinoma|cancer penis|penile cancer|carcinoma of the penis|penile carcinoma|cancer of the penis|carcinoma of penis|cancer of penis|penile cancer, adult GO:0045829 negative regulation of isotype switching biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching. http://purl.obolibrary.org/obo/GO_0045829 negative regulation of isotype switch recombination|down-regulation of isotype switching|down regulation of isotype switching|inhibition of isotype switching|downregulation of isotype switching|negative regulation of class switching|negative regulation of class switch recombination GO:0045827 negative regulation of isoprenoid metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. http://purl.obolibrary.org/obo/GO_0045827 down regulation of isoprenoid metabolic process|inhibition of isoprenoid metabolic process|down-regulation of isoprenoid metabolic process|downregulation of isoprenoid metabolic process|negative regulation of isoprenoid metabolism MONDO:0018338 activated PI3K-delta syndrome biolink:Disease mondo GARD:0011983|UMLS:C3714976|Orphanet:397596|ICD9:279.8|ICD10:D81.8|SCTID:711480000 UMLS:C3714976|SNOMEDCT:711480000|ORPHA:397596 http://purl.obolibrary.org/obo/MONDO_0018338 senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation|APDS ordo_disease MONDO:0043349 intravascular papillary endothelial hyperplasia biolink:Disease mondo GARD:0010733|SCTID:238770007|UMLS:C0343083|NCIT:C4391 A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present. NCIT:C4391|UMLS:C0343083|SNOMEDCT:238770007 http://purl.obolibrary.org/obo/MONDO_0043349 intravascular papillary endothelial hyperplasia|Masson's pseudosarcoma|papillary endothelial hyperplasia|Masson pseudotumor|Masson's pseudoangiosarcoma|Masson's vegetant hemangioma|Masson's pseudotumor|Masson's tumor|masson's pseudosarcoma|Masson lesion|Masson's vegetant intravascular hemangio-endothelioma gard_rare GO:0045824 negative regulation of innate immune response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response. http://purl.obolibrary.org/obo/GO_0045824 downregulation of innate immune response|down regulation of innate immune response|inhibition of innate immune response|down-regulation of innate immune response MONDO:0018337 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency biolink:Disease mondo Orphanet:397593|ICD10:E88.8 ORPHA:397593 http://purl.obolibrary.org/obo/MONDO_0018337 ordo_disease GO:0045822 negative regulation of heart contraction biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction. http://purl.obolibrary.org/obo/GO_0045822 down regulation of heart contraction|inhibition of heart contraction|downregulation of heart contraction|down-regulation of heart contraction|negative regulation of cardiac contraction GO:0045823 positive regulation of heart contraction biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of heart contraction. http://purl.obolibrary.org/obo/GO_0045823 upregulation of heart contraction|up-regulation of heart contraction|positive regulation of cardiac contraction|up regulation of heart contraction|activation of heart contraction|stimulation of heart contraction MONDO:0018339 PrP systemic amyloidosis biolink:Disease mondo ICD10:G60.8|UMLS:C4518776|SCTID:733422008|Orphanet:397606 (20p13) leading to deposition of prion protein amyloid. UMLS:C4518776|SNOMEDCT:733422008|ORPHA:397606 http://purl.obolibrary.org/obo/MONDO_0018339 prion protein systemic amyloidosis|chronic diarrhea with hereditary sensory and autonomic neuropathy|chronic diarrhea with HSAN ordo_disease MONDO:0018334 chronic hiccup biolink:Disease mondo UMLS:C0744898|GARD:0006657|HP:0100247|SCTID:716771000|Orphanet:396|UMLS:CN205022 Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. ORPHA:396|SNOMEDCT:716771000|UMLS:CN205022|UMLS:C0744898 http://purl.obolibrary.org/obo/MONDO_0018334 intractable singultus|intractable hiccups|Hiccups, intractable|persistent hiccups|chronic hiccups ordo_disease|gard_rare MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type biolink:Disease mondo Orphanet:394532|ICD10:E71.3|UMLS:CN205005 UMLS:CN205005|ORPHA:394532 http://purl.obolibrary.org/obo/MONDO_0018333 MAD deficiency, mild type|glutaric aciduria type 2, mild type|MADD, mild type ordo_clinical_subtype MONDO:0021977 basaloid follicular hamartoma biolink:Disease mondo ICD9:706.1|GARD:0002354|NCIT:C4749|UMLS:C0474964|SCTID:254705003 A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy. UMLS:C0474964|SNOMEDCT:254705003|NCIT:C4749 http://purl.obolibrary.org/obo/MONDO_0021977 basaloid follicular hamartoma|basal cell nevus with comedones gard_rare MONDO:0018336 obsolete Silver-Russell syndrome due to a point mutation biolink:Disease mondo ICD10:Q87.1|Orphanet:397590|UMLS:CN225933 UMLS:CN225933|ORPHA:397590 http://purl.obolibrary.org/obo/MONDO_0018336 ordo_etiological_subtype MONDO:0018335 deep dermatophytosis biolink:Disease mondo ICD10:B35.8|Orphanet:397587 ORPHA:397587 http://purl.obolibrary.org/obo/MONDO_0018335 disseminated granulomatous dermatophytosis ordo_disease MONDO:0021979 Basaran Yilmaz syndrome biolink:Disease mondo UMLS:C2931577|MESH:C537660|GARD:0000833 A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. MESH:C537660|UMLS:C2931577 http://purl.obolibrary.org/obo/MONDO_0021979 keratoderma, hypotrichosis and leukonychia totalis gard_rare MONDO:0018330 mucinous adenocarcinoma of the appendix biolink:Disease mondo ONCOTREE:MAAP|ICD10:C18.1|NCIT:C43558|Orphanet:391723|UMLS:C1706832 Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present. ORPHA:391723|UMLS:C1706832|NCIT:C43558 http://purl.obolibrary.org/obo/MONDO_0018330 appendiceal mucinous adenocarcinoma|appendix mucinous adenocarcinoma|vermiform appendix mucinous adenocarcinoma ordo_disease MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type biolink:Disease mondo UMLS:CN205004|Orphanet:394529|ICD10:E71.3 UMLS:CN205004|ORPHA:394529 http://purl.obolibrary.org/obo/MONDO_0018332 MADD, severe neonatal type|MAD deficiency, severe neonatal type|glutaric aciduria type 2, severe neonatal type ordo_clinical_subtype MONDO:0018331 obsolete rare genetic dystonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018331 FOODON:03412345 lichen biolink:OntologyClass mondo A composite organism that arises from algae or cyanobacteria living among filaments of multiple fungi species in a mutualistic relationship. http://purl.obolibrary.org/obo/FOODON_03412345 MONDO:0033954 monoclonal mast cell activation syndrome biolink:Disease mondo Orphanet:529468 ORPHA:529468 http://purl.obolibrary.org/obo/MONDO_0033954 ordo_disease FOODON:03400361 agency food product type biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0361 A food product type is a class of food products that is differentiated by its food composition, processing and/or consumption characteristics. This does not include brand name products but it may include generic food dish categories. http://purl.obolibrary.org/obo/FOODON_03400361 GO:0045830 positive regulation of isotype switching biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of isotype switching. http://purl.obolibrary.org/obo/GO_0045830 positive regulation of isotype switch recombination|up-regulation of isotype switching|up regulation of isotype switching|activation of isotype switching|positive regulation of class switch recombination|stimulation of isotype switching|upregulation of isotype switching|positive regulation of class switching GO:0045839 negative regulation of mitotic nuclear division biolink:OntologyClass mondo Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother. http://purl.obolibrary.org/obo/GO_0045839 negative regulation of mitosis|down-regulation of mitosis|down regulation of mitosis|inhibition of mitosis|downregulation of mitosis NCBITaxon:114277 spotted fever group organism taxon mondo GC_ID:11|PMID:9734038 http://purl.obolibrary.org/obo/NCBITaxon_114277 GO:0045835 negative regulation of meiotic nuclear division biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of meiosis. http://purl.obolibrary.org/obo/GO_0045835 inhibition of meiosis|downregulation of meiosis|negative regulation of meiosis|down-regulation of meiosis|down regulation of meiosis GO:0045836 positive regulation of meiotic nuclear division biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of meiosis. http://purl.obolibrary.org/obo/GO_0045836 up-regulation of meiosis|up regulation of meiosis|activation of meiosis|positive regulation of meiosis|stimulation of meiosis|upregulation of meiosis GO:0045833 negative regulation of lipid metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/GO_0045833 downregulation of lipid metabolic process|inhibition of lipid metabolic process|negative regulation of lipid metabolism|down-regulation of lipid metabolic process|down regulation of lipid metabolic process GO:0045834 positive regulation of lipid metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/GO_0045834 up-regulation of lipid metabolic process|up regulation of lipid metabolic process|activation of lipid metabolic process|positive regulation of lipid metabolism|stimulation of lipid metabolic process|upregulation of lipid metabolic process GO:0031268 pseudopodium organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. http://purl.obolibrary.org/obo/GO_0031268 pseudopodium organisation|pseudopodium organization and biogenesis MONDO:0018392 male infertility with spermatogenesis disorder due to single gene mutation biolink:Disease mondo GARD:0012513|ICD10:N46|Orphanet:399786|UMLS:CN227340 UMLS:CN227340|ORPHA:399786 http://purl.obolibrary.org/obo/MONDO_0018392 ordo_group_of_disorders|gard_rare MONDO:0018391 male infertility with spermatogenesis disorder biolink:Disease mondo UMLS:CN227339|ICD10:N46|GARD:0012512|Orphanet:399775 UMLS:CN227339|ORPHA:399775 http://purl.obolibrary.org/obo/MONDO_0018391 ordo_group_of_disorders MONDO:0018394 male infertility with teratozoospermia due to single gene mutation biolink:Disease mondo ICD10:N46|UMLS:CN252642|GARD:0012514|SCTID:764096006|Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. SNOMEDCT:764096006|ORPHA:399808|UMLS:CN252642 http://purl.obolibrary.org/obo/MONDO_0018394 ordo_disease MONDO:0018393 male infertility with azoospermia or oligozoospermia due to single gene mutation biolink:Disease mondo UMLS:CN225947|Orphanet:399805|ICD10:N46 Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal. UMLS:CN225947|ORPHA:399805 http://purl.obolibrary.org/obo/MONDO_0018393 ordo_disease MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome biolink:Disease mondo Orphanet:529980 ORPHA:529980 http://purl.obolibrary.org/obo/MONDO_0033969 ordo_disease MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome biolink:Disease mondo Orphanet:529977 ORPHA:529977 http://purl.obolibrary.org/obo/MONDO_0033968 ordo_disease MONDO:0033967 immune dysregulation with inflammatory bowel disease biolink:Disease mondo Orphanet:529974 ORPHA:529974 http://purl.obolibrary.org/obo/MONDO_0033967 ordo_group_of_disorders MONDO:0018390 male infertility due to sperm disorder biolink:Disease mondo ICD10:N46|UMLS:CN227338|Orphanet:399771 UMLS:CN227338|ORPHA:399771 http://purl.obolibrary.org/obo/MONDO_0018390 ordo_group_of_disorders GO:0045843 negative regulation of striated muscle tissue development biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development. http://purl.obolibrary.org/obo/GO_0045843 down-regulation of striated muscle development|down regulation of striated muscle development|downregulation of striated muscle development|inhibition of striated muscle development GO:0045840 positive regulation of mitotic nuclear division biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of mitosis. http://purl.obolibrary.org/obo/GO_0045840 upregulation of mitosis|mitogenic activity|up-regulation of mitosis|up regulation of mitosis|activation of mitosis|positive regulation of mitosis|stimulation of mitosis GO:0045844 positive regulation of striated muscle tissue development biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of striated muscle development. http://purl.obolibrary.org/obo/GO_0045844 up regulation of striated muscle development|activation of striated muscle development|stimulation of striated muscle development|upregulation of striated muscle development|up-regulation of striated muscle development MONDO:0018399 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018399 OBO:mondo#excluded_from_qc_check excluded from QC check biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#excluded_from_qc_check HGNC:21606 MPC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21606 MONDO:0018396 rare male fertility disorder with obstructive azoospermia biolink:Disease mondo Orphanet:399824|UMLS:CN227342 UMLS:CN227342|ORPHA:399824 http://purl.obolibrary.org/obo/MONDO_0018396 rare disorder due to impaired sperm transport|rare disorder with obstructive azoospermia obsoletion_candidate|ordo_group_of_disorders MONDO:0018395 male infertility due to sperm motility disorder biolink:Disease mondo Orphanet:399813|ICD10:N46|UMLS:CN227341 UMLS:CN227341|ORPHA:399813 http://purl.obolibrary.org/obo/MONDO_0018395 Male infertility due to asthenozoospermia ordo_group_of_disorders MONDO:0018398 female infertility due to a congenital hypogonadotropic hypogonadism biolink:Disease mondo Orphanet:399839|ICD10:N97.0|Orphanet:399846 ORPHA:399839|ORPHA:399846 http://purl.obolibrary.org/obo/MONDO_0018398 rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism ordo_group_of_disorders MONDO:0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder biolink:Disease mondo ICD10:N97.0|Orphanet:399831|UMLS:CN227343 UMLS:CN227343|ORPHA:399831 http://purl.obolibrary.org/obo/MONDO_0018397 rare female infertility due to gonadotropic axis disorder|rare female infertility due to hypothalamic-pituitary-ovarian axis disorder obsoletion_candidate|ordo_group_of_disorders MONDO:0018381 osteochondrosis biolink:Disease mondo ICD10:M92|GARD:0012704|Orphanet:399319|ICD9:732.6|ICD10:M42|MESH:D055034|ICD10:M93.9|UMLS:C0029429|SCTID:19579005|DOID:8125|NCIT:C34879|EFO:0008575 A condition that is characterized by defective bone growth that affects the growth centers of bone. DOID:8125|UMLS:C0029429|MESH:D055034|SNOMEDCT:19579005|ORPHA:399319|NCIT:C34879 http://purl.obolibrary.org/obo/MONDO_0018381 apophysitis|epiphysitis|epiphyseal necrosis|epiphyseal necrosis, NOS|osteochondritis juvenilis|osteochondritis|osteochondrosis not specified as adult or juvenile, of unspecified site ordo_group_of_disorders|gard_rare MONDO:0018380 idiopathic avascular necrosis biolink:Disease mondo Orphanet:399307|ICD10:M87.0 ORPHA:399307 http://purl.obolibrary.org/obo/MONDO_0018380 idiopathic AVN ordo_disease MONDO:0018383 osteonecrosis of genetic origin biolink:Disease mondo Orphanet:399380|ICD10:M93.9 An instance of osteonecrosis that is caused by a modification of the individual's genome. ORPHA:399380 http://purl.obolibrary.org/obo/MONDO_0018383 genetic osteonecrosis|bone necrosis of genetic origin ordo_group_of_disorders MONDO:0018382 epiphysiolysis of the hip biolink:Disease mondo EFO:1001317|Orphanet:399329|SCTID:26460006|ICD10:M93.9 Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee). ORPHA:399329|SNOMEDCT:26460006 http://purl.obolibrary.org/obo/MONDO_0018382 SufE|slipped capital femoral epiphysis|SCFE|epiphysiolysis of the upper femur|slipped upper femoral epiphysis|femoral head epiphysiolysis ordo_disease GO:0018271 biotin-protein ligase activity biolink:OntologyClass mondo Catalysis of the reaction: ATP + biotin + protein = AMP + diphosphate + biotin-protein. http://purl.obolibrary.org/obo/GO_0018271 biotin-apoprotein ligase activity GO:0006289 nucleotide-excision repair biolink:OntologyClass mondo A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). http://purl.obolibrary.org/obo/GO_0006289 intrastrand cross-link repair|pyrimidine-dimer repair, DNA damage excision|NER MONDO:0043300 actinic cheilitis biolink:Disease mondo UMLS:C0267026|SCTID:46795000|MESH:C535669|GARD:0009619 SNOMEDCT:46795000|UMLS:C0267026|MESH:C535669 http://purl.obolibrary.org/obo/MONDO_0043300 solar keratosis of lip|actinic cheilitis|actinic cheilosis gard_rare MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor biolink:Disease mondo EFO:1000510|UMLS:C1514921|NCIT:C39741 A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. NCIT:C39741|UMLS:C1514921 http://purl.obolibrary.org/obo/MONDO_0006398 retroperitoneal space inflammatory myofibroblastic tumor|retroperitoneal inflammatory myofibroblastic tumor MONDO:0043303 hyperacusis biolink:Disease mondo GARD:0009655|SCTID:25289003|MESH:D012001|NCIT:C116366 A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds. MESH:D012001|NCIT:C116366|SNOMEDCT:25289003 http://purl.obolibrary.org/obo/MONDO_0043303 loudness recruitment|sounds seem unnaturally loud|hyperacusia|auditory Hyperesthesias|hyperesthesia, auditory|disturbances, loudness perception|low tolerance to sound|perception disturbance, loudness|auditory hyperesthesia|hyperacusias|hyperesthesias, auditory|loudness Recruitments|perception disturbances, loudness|hyperacusis|oversensitive hearing|phonophobia|loudness perception disturbance|disturbance, loudness perception|hyperacuses|loudness perception disturbances|recruitment, loudness|Phonophobias gard_rare MONDO:0006399 obsolete rhabdoid tumor of the kidney biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006399 MONDO:0006396 rectal villous adenoma biolink:Disease mondo SCTID:312823001|EFO:1000506|UMLS:C0730199|NCIT:C4919 A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. UMLS:C0730199|NCIT:C4919|SNOMEDCT:312823001 http://purl.obolibrary.org/obo/MONDO_0006396 villous adenoma of rectum|villous adenoma of the rectum|rectum villous adenoma|rectal villous adenoma MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions biolink:Disease mondo EFO:1000508|ONCOTREE:TRCC|ICDO:0000/0|NCIT:C27891|UMLS:C1337036 A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. NCIT:C27891|UMLS:C1337036 http://purl.obolibrary.org/obo/MONDO_0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions|Xp11.2 translocation-related renal cell carcinoma|translocation-associated renal cell carcinoma|TFE3-Rearranged renal cell carcinoma|renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions|tRCC MONDO:0006394 rectal tubular adenoma biolink:Disease mondo EFO:1000504|UMLS:C3272804|NCIT:C96477 A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. NCIT:C96477|UMLS:C3272804 http://purl.obolibrary.org/obo/MONDO_0006394 rectal tubular adenoma MONDO:0006395 rectal tubulovillous adenoma biolink:Disease mondo EFO:1000505|UMLS:C1335691|SCTID:448428002|NCIT:C5620 A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. NCIT:C5620|UMLS:C1335691|SNOMEDCT:448428002 http://purl.obolibrary.org/obo/MONDO_0006395 tubulovillous adenoma of rectum|tubulovillous adenoma of the rectum|Villotubular adenoma of rectum|rectal tubulovillous adenoma|Villotubular adenoma of the rectum|rectal Villotubular adenoma MONDO:0006392 rectal hyperplastic polyp biolink:Disease mondo NCIT:C5619|EFO:1000502|UMLS:C1335679 A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps. NCIT:C5619|UMLS:C1335679 http://purl.obolibrary.org/obo/MONDO_0006392 rectal Hp|rectal MP|rectal metaplastic polyp|hyperplastic polyp of rectum|hyperplastic polyp of the rectum MONDO:0006393 rectal traditional serrated adenoma biolink:Disease mondo EFO:1000503|NCIT:C96463|UMLS:C3272790 An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia. NCIT:C96463|UMLS:C3272790 http://purl.obolibrary.org/obo/MONDO_0006393 rectal serrated adenoma type II|rectal TSA|rectal serrated adenoma|rectal traditional serrated adenoma MONDO:0006390 prostate small cell carcinoma biolink:Disease mondo DOID:7141|UMLS:C1300585|EFO:1000499|SCTID:396198006|NCIT:C6766|ONCOTREE:PRSCC A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells. DOID:7141|UMLS:C1300585|NCIT:C6766|SNOMEDCT:396198006 http://purl.obolibrary.org/obo/MONDO_0006390 small cell carcinoma of prostate gland|prostate oat cell carcinoma|prostate gland small cell carcinoma|PRSCC|Oat cell carcinoma of prostate|prostate Oat cell carcinoma|Oat cell carcinoma of the prostate|prostate small cell neuroendocrine carcinoma|small cell carcinoma of prostate|small cell carcinoma of the prostate|prostate small cell carcinoma|prostate small cell NEC GO:0045859 regulation of protein kinase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein kinase activity. http://purl.obolibrary.org/obo/GO_0045859 MONDO:0006391 pyloric gland adenoma biolink:Disease mondo NCIT:C43526|EFO:1000501|UMLS:C1709780 A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed. NCIT:C43526|UMLS:C1709780 http://purl.obolibrary.org/obo/MONDO_0006391 pyloric gastric gland adenoma|pyloric gland adenoma MONDO:0018389 male infertility due to gonadal dysgenesis or sperm disorder biolink:Disease mondo ICD10:N46|UMLS:CN227337|Orphanet:399764 UMLS:CN227337|ORPHA:399764 http://purl.obolibrary.org/obo/MONDO_0018389 Male infertility due to testicular dysgenesis or sperm disorder ordo_group_of_disorders NCBITaxon:33833 Vestibuliferida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33833 Vestibulifera MONDO:0018388 rare male infertility due to testicular endocrine disorder biolink:Disease mondo ICD10:N46|UMLS:CN227336|Orphanet:399685 UMLS:CN227336|ORPHA:399685 http://purl.obolibrary.org/obo/MONDO_0018388 obsoletion_candidate|ordo_group_of_disorders MONDO:0018385 osteochondrosis of genetic origin biolink:Disease mondo Orphanet:399391|ICD10:M93.9 An instance of osteochondrosis that is caused by a modification of the individual's genome. ORPHA:399391 http://purl.obolibrary.org/obo/MONDO_0018385 genetic osteochondrosis ordo_group_of_disorders MONDO:0033981 obsolete krt1-related diffuse nonepidermolytic keratoderma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0033981 MONDO:0018384 avascular necrosis of genetic origin biolink:Disease mondo ICD10:M93.9|Orphanet:399388 An instance of avascular necrosis that is caused by a modification of the individual's genome. ORPHA:399388 http://purl.obolibrary.org/obo/MONDO_0018384 genetic avascular necrosis ordo_group_of_disorders MONDO:0033980 RELA fusion-positive ependymoma biolink:Disease mondo Orphanet:530792 ORPHA:530792 http://purl.obolibrary.org/obo/MONDO_0033980 ordo_disease MONDO:0018387 rare male infertility due to adrenal disorder biolink:Disease mondo Orphanet:399584|ICD10:N46|UMLS:CN227335 UMLS:CN227335|ORPHA:399584 http://purl.obolibrary.org/obo/MONDO_0018387 obsoletion_candidate|ordo_group_of_disorders MONDO:0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder biolink:Disease mondo Orphanet:399572|ICD10:N46|UMLS:CN227334 UMLS:CN227334|ORPHA:399572 http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to gonadotropic axis disorder|rare male infertility due to hypothalamic-pituitary-testicular axis disorder ordo_group_of_disorders|obsoletion_candidate MONDO:0018370 KLHL9-related early-onset distal myopathy biolink:Disease mondo Orphanet:399081|SCTID:763776004|ICD10:G71.0 KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. SNOMEDCT:763776004|ORPHA:399081 http://purl.obolibrary.org/obo/MONDO_0018370 ordo_disease MONDO:0018372 obsolete osteonecrosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018372 MONDO:0018371 nebulin-related early-onset distal myopathy biolink:Disease mondo ICD10:G71.0|Orphanet:399103 ORPHA:399103 http://purl.obolibrary.org/obo/MONDO_0018371 distal nebulin myopathy ordo_disease GO:0045864 positive regulation of pteridine metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pteridine. http://purl.obolibrary.org/obo/GO_0045864 up-regulation of pteridine metabolic process|positive regulation of pteridine metabolism|up regulation of pteridine metabolic process|activation of pteridine metabolic process|stimulation of pteridine metabolic process|upregulation of pteridine metabolic process GO:0045862 positive regulation of proteolysis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. http://purl.obolibrary.org/obo/GO_0045862 activation of proteolysis|stimulation of proteolysis|upregulation of proteolysis|positive regulation of peptidolysis|up-regulation of proteolysis|up regulation of proteolysis MONDO:0043314 aquarium granuloma biolink:Disease mondo GARD:0009712|SCTID:240417004|UMLS:C0275708|MESH:C535526 A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure. UMLS:C0275708|SNOMEDCT:240417004|MESH:C535526 http://purl.obolibrary.org/obo/MONDO_0043314 fish tank granuloma|Mycobacterium marinum infection|M. marinum|Mycobacterium marinum caused skin disease|Mycobacterium marinum skin disease|aquarium granuloma|swimming pool granuloma gard_rare GO:0045863 negative regulation of pteridine metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pteridine. http://purl.obolibrary.org/obo/GO_0045863 down regulation of pteridine metabolic process|negative regulation of pteridine metabolism|downregulation of pteridine metabolic process|inhibition of pteridine metabolic process|down-regulation of pteridine metabolic process GO:0045860 positive regulation of protein kinase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein kinase activity. http://purl.obolibrary.org/obo/GO_0045860 stimulation of protein kinase activity|upregulation of protein kinase activity|up-regulation of protein kinase activity|up regulation of protein kinase activity GO:0045861 negative regulation of proteolysis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. http://purl.obolibrary.org/obo/GO_0045861 negative regulation of peptidolysis|down-regulation of proteolysis|down regulation of proteolysis|downregulation of proteolysis|inhibition of proteolysis MONDO:0043310 amaurosis fugax biolink:Disease mondo SCTID:88032003|NCIT:C84550|GARD:0009660|MESH:D020757 Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245) SNOMEDCT:88032003|NCIT:C84550|MESH:D020757 http://purl.obolibrary.org/obo/MONDO_0043310 blindness, monocular, transient|amaurosis fugax|momentary blindness|amaurosis fugax (one sided temporary vision loss)|monocular blindness, transient|blindness, transient monocular|transient monocular blindness gard_rare GO:0043207 response to external biotic stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. http://purl.obolibrary.org/obo/GO_0043207 MONDO:0018378 osteonecrosis of the jaw biolink:Disease mondo Orphanet:399293|SCTID:441809006|ICD10:K10.2|ICD9:733.45|UMLS:C2711248|NCIT:C63924 An area of necrotic bone in the mandible or maxilla. NCIT:C63924|UMLS:C2711248|ORPHA:399293|SNOMEDCT:441809006 http://purl.obolibrary.org/obo/MONDO_0018378 jaw osteonecrosis|ONJ|osteonecrosis of jaw ordo_disease MONDO:0018377 rare hereditary disease with avascular necrosis biolink:Disease mondo Orphanet:399185|UMLS:CN205038 UMLS:CN205038|ORPHA:399185 http://purl.obolibrary.org/obo/MONDO_0018377 ordo_group_of_disorders|obsoletion_candidate MONDO:0018379 primary avascular necrosis biolink:Disease mondo ICD10:M87.8|Orphanet:399302 ORPHA:399302 http://purl.obolibrary.org/obo/MONDO_0018379 primary AVN ordo_group_of_disorders MONDO:0018374 secondary avascular necrosis biolink:Disease mondo ICD10:M87.3|ICD10:M87.2|ICD10:M87.1|Orphanet:399169 ORPHA:399169 http://purl.obolibrary.org/obo/MONDO_0018374 secondary AVN ordo_group_of_disorders MONDO:0018373 avascular necrosis biolink:Disease mondo Orphanet:399164|ICD10:M87.9|ICD10:M87.8|NCIT:C34841|ICD10:M87.3|ICD10:M87.2|ICD10:M87.1|ICD10:M87.0|SCTID:397758007 Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. SNOMEDCT:397758007|ORPHA:399164|NCIT:C34841 http://purl.obolibrary.org/obo/MONDO_0018373 AVN|avascular necrosis of bone ordo_group_of_disorders MONDO:0018376 secondary non-traumatic avascular necrosis biolink:Disease mondo ICD10:M87.1|Orphanet:399180|ICD10:M87.3 ORPHA:399180 http://purl.obolibrary.org/obo/MONDO_0018376 secondary non-traumatic AVN ordo_disease MONDO:0018375 traumatic avascular necrosis biolink:Disease mondo Orphanet:399175|ICD10:M87.2 ORPHA:399175 http://purl.obolibrary.org/obo/MONDO_0018375 traumatic AVN ordo_disease MONDO:0006419 small intestinal intraepithelial neoplasia biolink:Disease mondo NCIT:C27462|EFO:1000536|UMLS:C1335999 A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion. NCIT:C27462|UMLS:C1335999 http://purl.obolibrary.org/obo/MONDO_0006419 small intestinal intraepithelial neoplasia|small intestinal dysplasia MONDO:0006417 small intestinal diffuse large B-cell lymphoma biolink:Disease mondo EFO:1000534|UMLS:C3272522|NCIT:C96055 A diffuse large B-cell lymphoma that arises from the small intestine. NCIT:C96055|UMLS:C3272522 http://purl.obolibrary.org/obo/MONDO_0006417 small intestine diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of small intestine|small intestinal diffuse large B-cell lymphoma MONDO:0006418 small intestinal enteropathy-associated T-cell lymphoma biolink:Disease mondo UMLS:C1519371|NCIT:C39610|EFO:1000535 An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate. UMLS:C1519371|NCIT:C39610 http://purl.obolibrary.org/obo/MONDO_0006418 small intestinal EATL|small intestinal enteropathy-type T-cell lymphoma|small intestine enteropathy-associated T-cell lymphoma|enteropathy-associated T-cell lymphoma of small intestine MONDO:0006415 obsolete small intestinal adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006415 MONDO:0006416 small intestinal Burkitt lymphoma biolink:Disease mondo UMLS:C1335991|NCIT:C27409|EFO:1000533 A Burkitt lymphoma that arises from the small intestine. NCIT:C27409|UMLS:C1335991 http://purl.obolibrary.org/obo/MONDO_0006416 Burkitt lymphoma of small intestine|small intestine Burkitts lymphoma|small intestine Burkitt lymphoma|primary small intestinal Burkitt's lymphoma|small intestine Burkitt's lymphoma|small intestinal Burkitt's lymphoma|Burkitts lymphoma of small intestine|small intestinal Burkitt lymphoma MONDO:0006413 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006413 NCBITaxon:43219 Herpotrichiellaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43219 MONDO:0006414 skin sarcoma biolink:Disease mondo UMLS:C0856900|NCIT:C5585|EFO:1000531|DOID:2687 A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma. DOID:2687|NCIT:C5585|UMLS:C0856900 http://purl.obolibrary.org/obo/MONDO_0006414 skin sarcoma|zone of skin sarcoma|cutaneous sarcoma|sarcoma of skin|sarcoma of zone of skin|sarcoma of the skin FOODON:03304511 seafood newburg (dish) biolink:OntologyClass mondo SUBSET_SIREN:F4511 http://purl.obolibrary.org/obo/FOODON_03304511 "subset_siren" MONDO:0006411 sinonasal undifferentiated carcinoma biolink:Disease mondo UMLS:C1710096|MESH:C537344|GARD:0009249|EFO:1000527|NCIT:C54294|ONCOTREE:SNUC|SCTID:697993003 A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor. NCIT:C54294|MESH:C537344|SNOMEDCT:697993003|UMLS:C1710096 http://purl.obolibrary.org/obo/MONDO_0006411 highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses|SNUC|Sinonasal anaplastic carcinoma|sinonasal undifferentiated carcinoma|undifferentiated Sinonasal cancer gard_rare MONDO:0006412 sinus histiocytosis with massive lymphadenopathy biolink:Disease mondo NCIT:C36075|EFO:1000528|MESH:D015618|GARD:0007588|SCTID:34287003|ICD9:277.89 A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously. SNOMEDCT:34287003|NCIT:C36075|MESH:D015618 http://purl.obolibrary.org/obo/MONDO_0006412 Rosai-Dorfman disease|RDD MONDO:0006410 simple endometrial hyperplasia biolink:Disease mondo NCIT:C35463|SCTID:198324001|EFO:1000525|UMLS:C0456483|ICD9:621.31|COHD:199886 A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent. UMLS:C0456483|SNOMEDCT:198324001|NCIT:C35463 http://purl.obolibrary.org/obo/MONDO_0006410 MONDO:0018408 cystic echinococcosis biolink:Disease mondo GARD:0002764|COHD:255477|ICD10:B67.9|DOID:1495|UMLS:C0153291|ICD10:B67.8|ICD10:B67.4|UMLS:C0153290|ICD10:B67.7|MedDRA:10014096|ICD9:122.4|Orphanet:400|ICD10:B67.6|ICD10:B67.5|UMLS:C4303092|ICD10:B67.3|ICD10:B67.2|ICD10:B67.1|ICD10:B67.0|SCTID:721822004 ORPHA:400|MEDDRA:10014096|DOID:1495|UMLS:C0153291|UMLS:C0153290|SNOMEDCT:721822004|UMLS:C4303092 http://purl.obolibrary.org/obo/MONDO_0018408 Hydatidosis|echinococcus granulosus infectious disease|Echinococcus granulosus infectious disease of liver|hydatid disease|echinococcus granulosus infectious disease of liver|liver echinococcus granulosus|Echinococcus granulosus infection of thyroid|Echinococcus granulosus infection|lung echinococcus granulosus|echinococcus granulosus|echinococcus granulosus infectious disease of thyroid|unilocular hydatid disease|Echinococcus granulosus infection of lung|thyroid echinococcus granulosus|unilocular echinococcosis ordo_disease|gard_rare UBERON:0003296 gland of diencephalon biolink:AnatomicalEntity mondo Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. http://purl.obolibrary.org/obo/UBERON_0003296 diencephalon gland|interbrain gland HP:0030976 Abnormal factor VIII activity biolink:PhenotypicFeature mondo A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. http://purl.obolibrary.org/obo/HP_0030976 MONDO:0018407 male infertility due to obstructive azoospermia of genetic origin biolink:Disease mondo ICD10:N46|Orphanet:399998 ORPHA:399998 http://purl.obolibrary.org/obo/MONDO_0018407 Male infertility due to impaired sperm transport of genetic origin ordo_group_of_disorders UBERON:0003297 gland of integumental system biolink:AnatomicalEntity mondo A gland that is part of a integumental system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003297 integumentary gland|integumental system gland|integumental gland UBERON:0003294 gland of foregut biolink:AnatomicalEntity mondo A gland that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003294 foregut gland MONDO:0018409 rare genetic disorder with obstructive azoospermia biolink:Disease mondo Orphanet:400003|UMLS:CN227352 ORPHA:400003|UMLS:CN227352 http://purl.obolibrary.org/obo/MONDO_0018409 rare genetic disorder due to impaired sperm transport obsoletion_candidate|ordo_group_of_disorders UBERON:0003295 pharyngeal gland biolink:AnatomicalEntity mondo Racemose mucous glands beneath the mucous membrane of the pharynx. http://purl.obolibrary.org/obo/UBERON_0003295 glandulae pharyngeae|pharynx gland UBERON:0003292 meninx of spinal cord biolink:AnatomicalEntity mondo A meninx that is part of a spinal cord [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003292 spinal cord meninges|spinal meninx|menines of spinal cord|meninges of spinal cord|spinal meninges|spinal cord meninx MONDO:0018404 obsolete rare genetic male infertility biolink:Disease mondo Orphanet:399980|UMLS:CN227349 Rare genetic male infertility. ORPHA:399980|UMLS:CN227349 http://purl.obolibrary.org/obo/MONDO_0018404 rare genetic male infertility ordo_group_of_disorders|obsoletion_candidate HP:0030972 Abnormal systemic blood pressure biolink:PhenotypicFeature mondo A chronic deviation from normal pressure in the systemic arterial system. http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic BP MONDO:0018403 female infertility due to an implantation defect biolink:Disease mondo Orphanet:399882|ICD10:N97.2 ORPHA:399882 http://purl.obolibrary.org/obo/MONDO_0018403 rare female infertility due to an implantation defect ordo_group_of_disorders UBERON:0003290 meninx of diencephalon biolink:AnatomicalEntity mondo A meninx that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003290 diencephalon meninges|meninx of between brain|meninges of mature diencephalon|meninges of diencephalon|meninx of mature diencephalon|interbrain meninx|mature diencephalon meninx|meninx of interbrain|mature diencephalon meninges|interbrain meninges|between brain meninx|meninges of interbrain|between brain meninges|diencephalon meninx|meninges of between brain MONDO:0018406 rare male infertility due to adrenal disorder of genetic origin biolink:Disease mondo Orphanet:399994|UMLS:CN227351|ICD10:N46 ORPHA:399994|UMLS:CN227351 http://purl.obolibrary.org/obo/MONDO_0018406 obsoletion_candidate|ordo_group_of_disorders UBERON:0003291 meninx of hindbrain biolink:AnatomicalEntity mondo A meninx that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003291 rhomencephalon meninges|hindbrain meninx|meninges of hindbrain|hindbrain meninges MONDO:0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin biolink:Disease mondo Orphanet:399983|UMLS:CN227350|ICD10:N46 An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. ORPHA:399983|UMLS:CN227350 http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to gonadotropic axis disorder of genetic origin|genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder|rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin obsoletion_candidate|ordo_group_of_disorders MONDO:0018400 rare female infertility due to an adrenal disorder biolink:Disease mondo Orphanet:399849|UMLS:CN227346 UMLS:CN227346|ORPHA:399849 http://purl.obolibrary.org/obo/MONDO_0018400 ordo_group_of_disorders|obsoletion_candidate MONDO:0018402 female infertility due to gonadal dysgenesis biolink:Disease mondo ICD10:N97.0|Orphanet:399877 ORPHA:399877 http://purl.obolibrary.org/obo/MONDO_0018402 rare female infertility due to gonadal dysgenesis|female infertility due to ovarian dysgenesis|rare female infertility due to ovarian dysgenesis ordo_group_of_disorders MONDO:0018401 female infertility due to an anomaly of ovarian function biolink:Disease mondo ICD10:N97.0|Orphanet:399853|UMLS:CN227347 UMLS:CN227347|ORPHA:399853 http://purl.obolibrary.org/obo/MONDO_0018401 obsoletion_candidate|ordo_group_of_disorders UBERON:0003299 roof plate of midbrain biolink:AnatomicalEntity mondo the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof http://purl.obolibrary.org/obo/UBERON_0003299 midbrain roof plate|roofplate of midbrain|roofplate midbrain|roof plate midbrain|midbrain roof|midbrain roofplate|roof plate midbrain region|roof plate mesencephalon MONDO:0006428 splenic diffuse large B-cell lymphoma biolink:Disease mondo EFO:1000547|UMLS:C2018774|NCIT:C7308 A diffuse large B-cell lymphoma occurring in the spleen. NCIT:C7308|UMLS:C2018774 http://purl.obolibrary.org/obo/MONDO_0006428 primary splenic diffuse large B-cell lymphoma|splenic diffuse large B-cell lymphoma MONDO:0006429 splenic hodgkin lymphoma biolink:Disease mondo SCTID:93527005|EFO:1000548|NCIT:C7295|UMLS:C0153791 A rare Hodgkin lymphoma that arises from the spleen. NCIT:C7295|SNOMEDCT:93527005|UMLS:C0153791 http://purl.obolibrary.org/obo/MONDO_0006429 splenic Hodgkin's lymphoma|Hodgkin's disease of spleen|primary splenic Hodgkin's lymphoma|Hodgkin's disease of the spleen|Hodgkin's lymphoma of spleen|Hodgkin's lymphoma of the spleen|splenic Hodgkins lymphoma|splenic Hodgkin's disease MONDO:0006426 spinal cord primitive neuroectodermal tumor biolink:Disease mondo DOID:6872|NCIT:C5406|EFO:1000545|UMLS:C1336048 A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord. UMLS:C1336048|NCIT:C5406|DOID:6872 http://purl.obolibrary.org/obo/MONDO_0006426 primitive neuroectodermal tumor of the spinal cord|primitive neuroectodermal tumor of spinal cord|spinal cord embryonal tumor, NOS|spinal cord PNET|primitive neuroectodermal neoplasm of the spinal cord|spinal cord primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of spinal cord|spinal cord primitive neuroectodermal tumor|spinal cord embryonal tumor, not otherwise specified MONDO:0006427 spindle cell melanoma biolink:Disease mondo SCTID:403923002|ICDO:8772/3|NCIT:C4237|DOID:3162|EFO:1000546|UMLS:C0334444 A melanoma characterized by the presence of malignant spindle-shaped melanocytes. NCIT:C4237|UMLS:C0334444|SNOMEDCT:403923002|DOID:3162 http://purl.obolibrary.org/obo/MONDO_0006427 spindle cell melanoma NOS (morphologic abnormality)|spindle cell malignant melanoma|malignant spindle cell melanoma|desmoplastic melanoma|spindle cell melanoma|spitzoid malignant melanoma HP:0040307 Male sexual dysfunction biolink:PhenotypicFeature mondo A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity http://purl.obolibrary.org/obo/HP_0040307 MONDO:0006424 soft tissue neoplasm biolink:Disease mondo SCTID:387837005|ONCOTREE:SOFTTISSUE|NCIT:C3377|EFO:1000541 A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. SNOMEDCT:387837005|NCIT:C3377 http://purl.obolibrary.org/obo/MONDO_0006424 tumor of the soft tissue|tumor of soft tissue|soft tissue neoplasm, NOS|neoplasm of the soft tissue|soft tissue neoplasm|neoplasm of soft tissue|SOFTTISSUE|soft tissue tumor|soft tissue tumors MONDO:0006425 obsolete spinal chordoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006425 MONDO:0006422 small intestinal tubulovillous adenoma biolink:Disease mondo EFO:1000539|UMLS:C1710113|NCIT:C43553 A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. NCIT:C43553|UMLS:C1710113 http://purl.obolibrary.org/obo/MONDO_0006422 MONDO:0006423 soft tissue chondroma biolink:Disease mondo UMLS:C1275277|DOID:3814|SCTID:404078000|EFO:1000540|NCIT:C9482 A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. DOID:3814|UMLS:C1275277|SNOMEDCT:404078000|NCIT:C9482 http://purl.obolibrary.org/obo/MONDO_0006423 chondroma of soft parts|extraskeletal osteochondroma|soft tissue chondroma|extraskeletal chondroma MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma biolink:Disease mondo EFO:1000537|UMLS:C1336004|NCIT:C5635 A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine. NCIT:C5635|UMLS:C1336004 http://purl.obolibrary.org/obo/MONDO_0006420 MALToma of the small intestine|MALT lymphoma of the small bowel|mucosa-associated lymphoid tissue lymphoma of the small intestine|MALToma of small intestine|mucosa-associated lymphoid tissue lymphoma of small intestine|MALT lymphoma of small bowel|small bowel MALToma|small bowel mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of the small bowel|MALT lymphoma of the small intestine|MALToma of the small bowel|MALToma of small bowel|MALT lymphoma of small intestine|mucosa-associated lymphoid tissue lymphoma of small bowel|small intestine MALToma|small bowel MALT lymphoma|small intestinal mucosa-associated lymphoid tissue lymphoma|small intestine mucosa-associated lymphoid tissue lymphoma|small intestine MALT lymphoma MONDO:0006421 small intestinal tubular adenoma biolink:Disease mondo EFO:1000538|UMLS:C1710112|NCIT:C43552 A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. NCIT:C43552|UMLS:C1710112 http://purl.obolibrary.org/obo/MONDO_0006421 HP:0003355 Aminoaciduria biolink:PhenotypicFeature mondo SNOMEDCT_US:35912001|UMLS:C0238621|UMLS:C4020843 An increased concentration of an amino acid in the urine. http://purl.obolibrary.org/obo/HP_0003355 Hyperaminoaciduria|High urine amino acid levels|Abnormal urinary amino-acid findings|Increased levels of animo acids in urine UBERON:0003283 mesentery of oesophagus biolink:AnatomicalEntity mondo A mesentery that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003283 oesophagus mesentery|esophagus mesentery|gullet mesentery|mesentery of esophagus|meso-esophagus|mesentery of gullet UBERON:0003284 mesentery of midgut biolink:AnatomicalEntity mondo A mesentery that is part of a midgut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003284 midgut mesentery UBERON:0003281 mesentery of stomach biolink:AnatomicalEntity mondo The portion of the primitive mesentery that encloses the stomach; from its dorsal sheet, the greater omentum develops, and from its ventral sheet, the lesser omentum. http://purl.obolibrary.org/obo/UBERON_0003281 ventriculus mesentery|mesentery of ventriculus|stomach mesentery|mesogastium|mesogastrium|mesogaster UBERON:0003282 mesentery of heart biolink:AnatomicalEntity mondo A mesentery that surrounds the heart. http://purl.obolibrary.org/obo/UBERON_0003282 mesocardium|cardiac mesentery|heart mesentery UBERON:0003280 endothelium of main bronchus biolink:AnatomicalEntity mondo An endothelium that is part of a main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003280 principal bronchus endothelium|endothelium of bronchus principalis|primary bronchus endothelium|endothelium of principal bronchus|bronchus principalis endothelium|main bronchus endothelium|endothelium of primary bronchus HGNC:1476 CAPN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1476 HGNC:1477 CAPN10 biolink:OntologyClass mondo http://identifiers.org/hgnc/1477 UBERON:0003289 meninx of telencephalon biolink:AnatomicalEntity mondo A meninx that is part of a telencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003289 telencephalon meninx|meninges of telencephalon|telencephalon meninges HP:0003351 Decreased circulating renin level biolink:PhenotypicFeature mondo UMLS:C1845206 An decreased level of renin in the blood. http://purl.obolibrary.org/obo/HP_0003351 Decreased plasma renin activity|Low plasma renin activity|Suppressed plasma renin activity UBERON:0003288 meninx of midbrain biolink:AnatomicalEntity mondo A meninx that is part of a midbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003288 mesencephalon meninges|midbrain meninges|meninges of midbrain|midbrain meninx UBERON:0015251 modified sebaceous gland biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0015251 HGNC:1482 CAPN5 biolink:OntologyClass mondo http://identifiers.org/hgnc/1482 HGNC:1480 CAPN3 biolink:OntologyClass mondo http://identifiers.org/hgnc/1480 UBERON:0003278 skeleton of lower jaw biolink:AnatomicalEntity mondo A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. http://purl.obolibrary.org/obo/UBERON_0003278 lower jaw skeleton|mandibular series|lower jaw|mandibles|mandible UBERON:0003279 endothelium of trachea biolink:AnatomicalEntity mondo An endothelium that is part of a trachea. http://purl.obolibrary.org/obo/UBERON_0003279 windpipe endothelium|trachea endothelium|endothelium of windpipe UBERON:0003277 skeleton of upper jaw biolink:AnatomicalEntity mondo A subdivision of the skeleton that corresponds to the upper part of the mouth. The lower jaw skeleton includes the following elements, when present: upper jaw teeth, the maxilla and other lower jaw bones. http://purl.obolibrary.org/obo/UBERON_0003277 upper jaw skeleton|upper jaw MONDO:0006408 sex hormone-producing adrenal cortex adenoma biolink:Disease mondo UMLS:C1710067|NCIT:C48452|EFO:1000523 A rare adenoma of the adrenal cortex that produces androgens or estrogens. UMLS:C1710067|NCIT:C48452 http://purl.obolibrary.org/obo/MONDO_0006408 Sex hormone producing adrenal cortical adenoma|Sex hormone producing adrenal cortex adenoma MONDO:0006409 signet ring cell gastric adenocarcinoma biolink:Disease mondo NCIT:C5250|UMLS:C1335965|ONCOTREE:SSRCC|DOID:8025|EFO:1000524 A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin. NCIT:C5250|DOID:8025|UMLS:C1335965 http://purl.obolibrary.org/obo/MONDO_0006409 signet Ring cell adenocarcinoma of stomach|gastric signet Ring cell adenocarcinoma|gastric signet ring cell adenocarcinoma|signet ring cell carcinoma of the stomach|signet ring cell gastric adenocarcinoma|signet Ring cell adenocarcinoma of the stomach|signet Ring cell stomach adenocarcinoma MONDO:0006406 sarcomatoid carcinoma biolink:Disease mondo DOID:4015|ICDO:8033/3|ICDO:8032/3|UMLS:C0205697|NCIT:C27004|EFO:1000520 A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. DOID:4015|NCIT:C27004|UMLS:C0205697 http://purl.obolibrary.org/obo/MONDO_0006406 carcinoma, spindle cell, malignant|pseudosarcomatous carcinoma|spindle cell carcinoma (morphologic abnormality)|spindle cell carcinoma|sarcomatoid carcinoma MONDO:0006407 sarcomatoid mesothelioma biolink:Disease mondo DOID:4488|UMLS:C0334513|NCIT:C45655|EFO:1000521 A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen. DOID:4488|NCIT:C45655|UMLS:C0334513 http://purl.obolibrary.org/obo/MONDO_0006407 malignant fibrous mesothelioma (morphologic abnormality)|sarcomatoid mesothelioma (morphologic abnormality)|spindled mesothelioma|sarcomatoid mesothelioma|malignant fibrous mesothelioma MONDO:0006404 salivary gland large cell carcinoma biolink:Disease mondo NCIT:C35735|EFO:1000517|UMLS:C2111671 A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass. UMLS:C2111671|NCIT:C35735 http://purl.obolibrary.org/obo/MONDO_0006404 large cell undifferentiated salivary gland carcinoma|saliva-secreting gland large cell carcinoma|large cell salivary gland carcinoma|salivary gland large cell carcinoma MONDO:0006405 salivary gland small cell carcinoma biolink:Disease mondo NCIT:C35703|EFO:1000519|UMLS:C1335982 An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures. NCIT:C35703|UMLS:C1335982 http://purl.obolibrary.org/obo/MONDO_0006405 saliva-secreting gland small cell carcinoma|small cell carcinoma of saliva-secreting gland|salivary gland anaplastic small cell carcinoma|salivary gland small cell carcinoma|neuroendocrine carcinoma of salivary gland|neuroendocrine carcinoma of the salivary gland|anaplastic small cell carcinoma of salivary gland|anaplastic small cell carcinoma of the salivary gland|small cell salivary gland carcinoma|salivary gland neuroendocrine carcinoma MONDO:0006402 salivary gland basal cell adenocarcinoma biolink:Disease mondo ICDO:8147/3|EFO:1000515|NCIT:C3678 A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients. NCIT:C3678 http://purl.obolibrary.org/obo/MONDO_0006402 basal cell adenocarcinoma|salivary gland basal cell adenocarcinoma|skin basal cell carcinoma of saliva-secreting gland|saliva-secreting gland skin basal cell carcinoma|basal cell adenocarcinoma of salivary gland|basal cell adenocarcinoma of the salivary gland MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma biolink:Disease mondo EFO:1000516|DOID:297|UMLS:C1519172|NCIT:C40410 A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. UMLS:C1519172|NCIT:C40410|DOID:297 http://purl.obolibrary.org/obo/MONDO_0006403 saliva-secreting gland carcinoma ex pleomorphic adenoma|salivary gland carcinoma ex pleomorphic adenoma|carcinoma in pleomorphic adenoma|pleomorphic adenoma carcinoma|carcinoma ex pleomorphic adenoma MONDO:0006400 salivary gland acinic cell carcinoma biolink:Disease mondo NCIT:C8013|EFO:1000513|UMLS:C0279738 A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis. UMLS:C0279738|NCIT:C8013 http://purl.obolibrary.org/obo/MONDO_0006400 salivary gland acinic cell cancer|salivary gland acinic cell tumor|acinic cell neoplasm of salivary gland|acinic cell neoplasm of the salivary gland|acinic cell tumor of salivary gland|acinic cell carcinoma of salivary gland|salivary gland acinic cell neoplasm|acinic cell tumor of the salivary gland|acinic cell carcinoma of the salivary gland UBERON:0015249 digit skin biolink:AnatomicalEntity mondo A zone of skin that is part of a digit [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0015249 MONDO:0006401 salivary gland adenosquamous carcinoma biolink:Disease mondo EFO:1000514|NCIT:C35737|UMLS:C1335894 A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component. UMLS:C1335894|NCIT:C35737 http://purl.obolibrary.org/obo/MONDO_0006401 salivary gland adenosquamous carcinoma|saliva-secreting gland adenosquamous carcinoma HGNC:1492 SHPK biolink:OntologyClass mondo http://identifiers.org/hgnc/1492 UBERON:0003261 thyroid primordium endoderm biolink:AnatomicalEntity mondo An endoderm that is part of a thyroid primordium. http://purl.obolibrary.org/obo/UBERON_0003261 endoderm of thyroid primordium UBERON:0003262 amniotic mesoderm biolink:AnatomicalEntity mondo A mesenchyme that is part of a amnion. http://purl.obolibrary.org/obo/UBERON_0003262 amnionic mesoderm|amnion mesoderm|mesenchyme of amnion|amnionic mesenchyme|amnion mesenchyme|amnionic mesoderm UBERON:0003260 endoderm of hindgut biolink:AnatomicalEntity mondo An endoderm that is part of a hindgut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003260 hindgut endoderm ECTO:0001152 organochlorine compound exposure biolink:OntologyClass mondo An exposure to organochlorine compound. http://purl.obolibrary.org/obo/ECTO_0001152 exposure to organochlorine compound UBERON:0003269 skeletal muscle tissue of eye biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003269 eye skeletal muscle tissue|skeletal muscle tissue of eye|eye skeletal muscle|eye skeletal muscle group UBERON:0003267 tooth of upper jaw biolink:AnatomicalEntity mondo A calcareous tooth that is part of the upper jaw region. In mammals, the upper jaw teeth are attached to the maxilla. http://purl.obolibrary.org/obo/UBERON_0003267 maxillary tooth|upper jaw tooth HP:0003330 Abnormal bone structure biolink:PhenotypicFeature mondo UMLS:C4025630 Any anomaly in the composite material or the layered arrangement of the bony skeleton. http://purl.obolibrary.org/obo/HP_0003330 UBERON:0003268 tooth of lower jaw biolink:AnatomicalEntity mondo A calcareous tooth that is part of the lower jaw region. In mammals, the lower jaw teeth are attached to the mandible (dentary). http://purl.obolibrary.org/obo/UBERON_0003268 lower jaw dentine containing tooth|lower jaw tooth|mandibular tooth|lower jaw calcareous tooth|lower jaw vertebrate tooth|calcareous tooth of lower jaw HGNC:1497 CASK biolink:OntologyClass mondo http://identifiers.org/hgnc/1497 UBERON:0003265 chorionic mesenchyme biolink:AnatomicalEntity mondo A mesenchyme that is part of a chorion. http://purl.obolibrary.org/obo/UBERON_0003265 chorion mesoderm|mesenchyme of chorion|chorionic mesenchyme|mesenchyme of chorion (vertebrates)|chorion mesenchyme HGNC:1494 ALX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1494 MONDO:0006459 thymoma type B1 biolink:Disease mondo ICDO:8583/1|DOID:6917|NCIT:C6887|EFO:1000584|UMLS:C1266094 A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors. UMLS:C1266094|DOID:6917|NCIT:C6887 http://purl.obolibrary.org/obo/MONDO_0006459 thymoma type B1|predominantly cortical thymoma|lymphocyte-rich thymoma|lymphocyte-predominant thymoma|thymoma, organoid|organoid thymoma MONDO:0006457 obsolete thymoma type AB biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006457 MONDO:0006458 thymoma type B3 biolink:Disease mondo NCIT:C7997|DOID:7926|EFO:1000583|UMLS:C0279705|ICDO:8585/3|ICDO:8585/1 Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases. DOID:7926|UMLS:C0279705|NCIT:C7997 http://purl.obolibrary.org/obo/MONDO_0006458 well-differentiated thymic carcinoma|epithelial malignant thymoma|atypical thymoma|thymoma, epithelial|squamoid thymoma|epithelial thymoma|thymoma type B3|well differentiated thymic carcinoma|malignant thymoma type B3 MONDO:0006455 thymic undifferentiated carcinoma biolink:Disease mondo NCIT:C35718|UMLS:C1336865|EFO:1000580 A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features. UMLS:C1336865|NCIT:C35718 http://purl.obolibrary.org/obo/MONDO_0006455 thymic undifferentiated carcinoma CHEBI:83813 proteinogenic amino acid biolink:ChemicalSubstance mondo Any of the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Apart from glycine, which is non-chiral, all have L configuration. http://purl.obolibrary.org/obo/CHEBI_83813 canonical amino acid|canonical amino acids|proteinogenic amino acids MONDO:0006456 thymoma (disease) biolink:Disease mondo ICDO:8580/1|ICD10:D38.4|ICD10:D15.0|ONCOTREE:THYM|UMLS:C0040100|MedDRA:10043670|Orphanet:99867|DOID:3275|ICD9:239.89|NCIT:C3411|EFO:1000581|HP:0100522|SCTID:444231005 A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course. MEDDRA:10043670|NCIT:C3411|SNOMEDCT:444231005|ORPHA:99867|MESH:D013945|DOID:3275|UMLS:C0040100 http://purl.obolibrary.org/obo/MONDO_0006456 primary thymic epithelial neoplasm|THYM|primary thymic epithelial tumor|thymoma ordo_disease CHEBI:83812 non-proteinogenic amino acid derivative biolink:ChemicalSubstance mondo Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom. http://purl.obolibrary.org/obo/CHEBI_83812 non-canonical amino acid derivative|non-proteinogenic amino-acid derivatives|non-canonical amino-acid derivatives CHEBI:83811 proteinogenic amino acid derivative biolink:ChemicalSubstance mondo Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom. http://purl.obolibrary.org/obo/CHEBI_83811 proteinogenic amino acid derivatives|canonical amino acid derivative|proteinogenic amino-acid derivatives|proteinogenic amino-acid derivative|canonical amino acid derivatives|canonical amino-acid derivatives|canonical amino-acid derivative MONDO:0006453 obsolete thymic small cell carcinoma biolink:Disease mondo An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. http://purl.obolibrary.org/obo/MONDO_0006453 MONDO:0006454 obsolete thymic squamous cell carcinoma biolink:Disease mondo A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. http://purl.obolibrary.org/obo/MONDO_0006454 MONDO:0006451 thymic carcinoma biolink:Disease mondo UMLS:C1322286|EFO:1000576|MedDRA:10061031|UMLS:C0205969|GARD:0011952|Orphanet:99868|NCIT:C7569|DOID:4554|ICDO:8586/3|SCTID:444374006|UMLS:CN207411|ONCOTREE:THYC|DOID:3284|ICD10:C37 Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential. ORPHA:99868|DOID:4554|SNOMEDCT:444374006|DOID:3284|UMLS:CN207411|NCIT:C7569|MEDDRA:10061031|UMLS:C0205969|UMLS:C1322286 http://purl.obolibrary.org/obo/MONDO_0006451 malignant thymoma|thymoma, malignant|thymic carcinoma (excluding well differentiated thymic carcinoma)|THYC|thymic carcinoma|thymoma, type C (morphologic abnormality)|type C thymoma|thymic carcinoma excluding well differentiated thymic carcinoma|carcinoma of thymus|thymoma, type C|thymoma type C|thymus carcinoma|thymoma, malignant (morphologic abnormality) ordo_disease MONDO:0006452 thymic sarcomatoid carcinoma biolink:Disease mondo EFO:1000577|NCIT:C6463|DOID:8138|UMLS:C1335924 A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. UMLS:C1335924|NCIT:C6463|DOID:8138 http://purl.obolibrary.org/obo/MONDO_0006452 sarcomatoid carcinoma of Thymus|sarcomatoid carcinoma of the Thymus|thymic spindle cell carcinoma|thymic carcinosarcoma|Thymus sarcomatoid carcinoma|thymic sarcomatoid carcinoma|thymus sarcomatoid carcinoma MONDO:0006450 therapy-related myeloid neoplasm biolink:Disease mondo EFO:1000575|NCIT:C27912|ONCOTREE:TMN|ICDO:9920/3 Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. NCIT:C27912 http://purl.obolibrary.org/obo/MONDO_0006450 therapy-related acute myeloid leukemia and myelodysplastic syndrome|therapy-related myeloid neoplasms|therapy-related AML and MDS|therapy-related myeloid neoplasm|TMN|acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related MONDO:0018448 clear cell papillary renal cell carcinoma biolink:Disease mondo SCTID:734015000|ICD10:C64|UMLS:C4518333|Orphanet:404511|ONCOTREE:CCPRC Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. SNOMEDCT:734015000|UMLS:C4518333|ORPHA:404511 http://purl.obolibrary.org/obo/MONDO_0018448 ordo_histopathological_subtype MONDO:0018447 chondromyxoid fibroma biolink:Disease mondo ICD10:D16.9|UMLS:C0221290|ICDO:9241/0|Orphanet:404507|EFO:0000332|NCIT:C3830 An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. NCIT:C3830|UMLS:C0221290|ORPHA:404507 http://purl.obolibrary.org/obo/MONDO_0018447 Chondromyxoid fibroma ordo_disease MONDO:0018449 acquired cystic disease-associated renal cell carcinoma biolink:Disease mondo UMLS:CN226194|Orphanet:404514|ICD10:C64 Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. UMLS:CN226194|ORPHA:404514 http://purl.obolibrary.org/obo/MONDO_0018449 ordo_disease MONDO:0018444 female infertility due to fertilization defect biolink:Disease mondo Orphanet:404469|ICD10:N97.8 ORPHA:404469 http://purl.obolibrary.org/obo/MONDO_0018444 rare female infertility due to oocyte maturation|rare female infertility due to oocyte maturation defect|female infertility due to fecundation defect ordo_group_of_disorders MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:404451|UMLS:CN226185 UMLS:CN226185|ORPHA:404451 http://purl.obolibrary.org/obo/MONDO_0018443 ordo_malformation_syndrome MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome biolink:Disease mondo UMLS:CN226191|Orphanet:404481|ICD10:G11.1 UMLS:CN226191|ORPHA:404481 http://purl.obolibrary.org/obo/MONDO_0018446 ordo_group_of_disorders MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome biolink:Disease mondo UMLS:CN226190|ICD10:Q87.3|Orphanet:404476 UMLS:CN226190|ORPHA:404476 http://purl.obolibrary.org/obo/MONDO_0018445 glow syndrome ordo_malformation_syndrome MONDO:0018440 autosomal recessive distal renal tubular acidosis biolink:Disease mondo Orphanet:402041|ICD10:N25.8|UMLS:C1864498 Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. ORPHA:402041|UMLS:C1864498 http://purl.obolibrary.org/obo/MONDO_0018440 AR dRTA|autosomal recessive distal renal tubular acidosis (disease)|autosomal recessive distal RTA|distal renal tubular acidosis (disease), autosomal recessive ordo_clinical_subtype MONDO:0018442 acitretin/etretinate embryopathy biolink:Disease mondo GARD:0000468|ICD10:Q86.8|Orphanet:40366|SCTID:725287006|UMLS:CN205049|MESH:C538169 Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. MESH:C538169|SNOMEDCT:725287006|UMLS:CN205049|ORPHA:40366 http://purl.obolibrary.org/obo/MONDO_0018442 Acitretine embryofetopathy|acitretin embryopathy|fetal acitretin/etretinate syndrome|fetal acitretin syndrome|acitretin embryofetopathy|retinoid embryopathy gard_rare|ordo_disease MONDO:0018441 obsolete hepatitis delta biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018441 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma biolink:Disease mondo SCTID:255031003|Orphanet:142|NCIT:C3878|HP:0011779|GARD:0000664|EFO:1000595|ONCOTREE:THAP|MedDRA:10002240|UMLS:C0238461|MESH:D065646|ICD10:C73 A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. UMLS:C0238461|NCIT:C3878|ORPHA:142|MESH:C536910|MESH:D065646|SNOMEDCT:255031003|MEDDRA:10002240 http://purl.obolibrary.org/obo/MONDO_0006468 anaplastic thyroid carcinoma|Dedifferentiated thyroid gland carcinoma|thyroid carcinoma, anaplastic|undifferentiated carcinoma of the thyroid gland|undifferentiated carcinoma of thyroid gland|anaplastic carcinoma of the thyroid gland|thyroid gland undifferentiated carcinoma|anaplastic carcinoma of thyroid gland|undifferentiated carcinoma of the thyroid|pleomorphic thyroid gland carcinoma|thyroid gland carcinosarcoma|undifferentiated carcinoma of thyroid|anaplastic carcinoma of the thyroid|anaplastic thyroid gland carcinoma|metaplastic thyroid gland carcinoma|anaplastic carcinoma of thyroid|undifferentiated thyroid gland carcinoma|THAP|undifferentiated (anaplastic) thyroid gland carcinoma|sarcomatoid thyroid gland carcinoma|thyroid gland undifferentiated (anaplastic) carcinoma|undifferentiated thyroid carcinoma|anaplastic thyroid cancer|undifferentiated (anaplastic) thyroid gland cancer|undifferentiated thyroid tumor|thyroid cancer, anaplastic gard_rare|ordo_disease MONDO:0006469 tibial adamantinoma biolink:Disease mondo EFO:1000596|UMLS:C1273017|DOID:6322|NCIT:C8461|SCTID:281702006 An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases). DOID:6322|NCIT:C8461|SNOMEDCT:281702006|UMLS:C1273017 http://purl.obolibrary.org/obo/MONDO_0006469 adamantinoma of tibia|tibia adamantinoma|tibial adamantinoma morphology|tibia long bone adamantinoma|tibial adamantinoma MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation biolink:Disease mondo UMLS:C1266099|DOID:0050923|EFO:1000593|ICDO:8588/3|NCIT:C46105 A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells. UMLS:C1266099|NCIT:C46105|DOID:0050923 http://purl.obolibrary.org/obo/MONDO_0006466 spindle epithelial tumor with thymus-like differentiation tumor|settle|settle tumor MONDO:0006467 thyroid gland squamous cell carcinoma biolink:Disease mondo UMLS:C1710177|EFO:1000594|NCIT:C46008 A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive. NCIT:C46008|UMLS:C1710177 http://purl.obolibrary.org/obo/MONDO_0006467 thyroid gland squamous cell carcinoma|squamous cell thyroid gland carcinoma MONDO:0006464 thyroid gland mucosa-associated lymphoid tissue lymphoma biolink:Disease mondo NCIT:C7601|EFO:1000591|UMLS:C1336754 An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis. NCIT:C7601|UMLS:C1336754 http://purl.obolibrary.org/obo/MONDO_0006464 thyroid MALT lymphoma|thyroid mucosa-associated lymphoid tissue lymphoma CHEBI:83822 non-proteinogenic L-alpha-amino acid biolink:ChemicalSubstance mondo Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. http://purl.obolibrary.org/obo/CHEBI_83822 non-proteinogenic L-alpha-amino acids CHEBI:83821 amino acid derivative biolink:ChemicalSubstance mondo Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues. http://purl.obolibrary.org/obo/CHEBI_83821 modified amino acids|amino acid derivatives MONDO:0006465 thyroid gland oncocytic follicular carcinoma biolink:Disease mondo EFO:1000592|NCIT:C4946 A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent. NCIT:C4946 http://purl.obolibrary.org/obo/MONDO_0006465 thyroid Hurthle cell carcinoma|thyroid gland Hurthle cell carcinoma|Hurthle cell thyroid gland carcinoma|oncocytic carcinoma of the thyroid|thyroid oncocytic carcinoma|oncocytic carcinoma of thyroid|Hurthle cell carcinoma of the thyroid gland|Hurthle cell carcinoma of thyroid gland|Hurthle cell carcinoma of the thyroid|Hurthle cell carcinoma of thyroid MONDO:0006462 thyroid gland diffuse large B-cell lymphoma biolink:Disease mondo UMLS:C1336749|EFO:1000587|NCIT:C6046 A diffuse large B-cell lymphoma primarily involving the thyroid gland. NCIT:C6046|UMLS:C1336749 http://purl.obolibrary.org/obo/MONDO_0006462 thyroid gland diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of the thyroid gland|primary thyroid gland diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of thyroid gland|diffuse large B-cell lymphoma of the thyroid|diffuse large B-cell lymphoma of thyroid|thyroid diffuse large B-cell lymphoma CHEBI:83820 non-proteinogenic amino acid biolink:ChemicalSubstance mondo Any amino-acid that is not naturally encoded in the genetic code of any organism. http://purl.obolibrary.org/obo/CHEBI_83820 non-coded amino acids|non-canonical amino acid|non-canonical amino-acids|non-canonical amino-acid|non-canonical amino acids|non-coded amino acid|non-proteinogenic amino-acids|non-coded amino-acid|non-proteinogenic amino acids|non-coded amino-acids|non-proteinogenic amino-acid MONDO:0006463 thyroid gland mucoepidermoid carcinoma biolink:Disease mondo DOID:4687|UMLS:C1513721|EFO:1000590|NCIT:C38762 A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent. UMLS:C1513721|DOID:4687|NCIT:C38762 http://purl.obolibrary.org/obo/MONDO_0006463 mucoepidermoid thyroid gland carcinoma|mucoepidermoid thyroid carcinoma|thyroid gland mucoepidermoid carcinoma MONDO:0006460 thyroglossal duct cyst biolink:Disease mondo EFO:1000585|SCTID:39462005|ICD9:759.2|MESH:D013955 A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. MESH:D013955|NCIT:C85189|SNOMEDCT:39462005 http://purl.obolibrary.org/obo/MONDO_0006460 MONDO:0006461 obsolete thyroid gland carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006461 HP:0003398 Abnormal synaptic transmission at the neuromuscular junction biolink:PhenotypicFeature mondo UMLS:C4025618|UMLS:C4020842 Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. http://purl.obolibrary.org/obo/HP_0003398 Abnormality of neuromuscular transmission MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations biolink:Disease mondo SCTID:763309005|ICD10:C92.0|Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. ORPHA:402026|SNOMEDCT:763309005 http://purl.obolibrary.org/obo/MONDO_0018437 AML with NPM1 somatic mutations ordo_disease MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) biolink:Disease mondo Orphanet:402023|SCTID:763796007|ICD10:C94.2 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. ORPHA:402023|SNOMEDCT:763796007 http://purl.obolibrary.org/obo/MONDO_0018436 megakaryoblastic AML with t(1;22)(p13;q13) ordo_disease MONDO:0018439 eosinophilic colitis biolink:Disease mondo NCIT:C27053|Orphanet:402035|COHD:77923|ICD10:K52.8|UMLS:C0267448|ICD9:558.42|SCTID:29120000|ICD10:K52.82 Inflammation of the colon that is characterized by eosinic infiltration. ORPHA:402035|UMLS:C0267448|SNOMEDCT:29120000|NCIT:C27053 http://purl.obolibrary.org/obo/MONDO_0018439 ordo_disease MONDO:0018438 eosinophilic gastrointestinal disease biolink:Disease mondo UMLS:CN226154|ICD10:K52.8|Orphanet:402029 ORPHA:402029|UMLS:CN226154 http://purl.obolibrary.org/obo/MONDO_0018438 primary eosinophilic gastrointestinal disease|EGID ordo_group_of_disorders MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) biolink:Disease mondo ICD10:C92.0|Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. ORPHA:402014 http://purl.obolibrary.org/obo/MONDO_0018433 AML with t(6;9)(p23;q34) ordo_disease MONDO:0018432 lichen myxedematosus biolink:Disease mondo ICD9:701.8|Orphanet:402007|SCTID:111197009|ICD10:L98.5 SNOMEDCT:111197009|ORPHA:402007 http://purl.obolibrary.org/obo/MONDO_0018432 lichen myxoedematosus|papular mucinosis|lichenoid myxedema ordo_group_of_disorders MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) biolink:Disease mondo ICD10:C92.0|GARD:0012759|Orphanet:402020 Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. ORPHA:402020 http://purl.obolibrary.org/obo/MONDO_0018435 AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)|AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)|acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2) ordo_disease|gard_rare MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) biolink:Disease mondo ICD10:C92.0|Orphanet:402017 ORPHA:402017 http://purl.obolibrary.org/obo/MONDO_0018434 AML with t(9;11)(p22;q23) ordo_disease MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum biolink:Disease mondo UMLS:CN226150|ICD10:G90.8|Orphanet:401993 UMLS:CN226150|ORPHA:401993 http://purl.obolibrary.org/obo/MONDO_0018431 ordo_group_of_disorders|ordo_inheritance_inconsistent MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome biolink:Disease mondo ICD10:Q04.3|Orphanet:401959|UMLS:CN226145 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. ORPHA:401959|UMLS:CN226145 http://purl.obolibrary.org/obo/MONDO_0018430 ordo_malformation_syndrome MONDO:0006439 obsolete syringocystadenoma papilliferum biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006439 NCBITaxon:69826 Ornithodoros savignyi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_69826 Argas savignyi MONDO:0006437 obsolete superficial fibromatosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006437 MONDO:0006438 synovial chondromatosis biolink:Disease mondo MESH:D015838|EFO:1000557|GARD:0006054|NCIT:C34467|UMLS:C0008476 Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common. MESH:D015838|NCIT:C34467|UMLS:C0008476 http://purl.obolibrary.org/obo/MONDO_0006438 Henderson-Jones syndrome|Reichel's syndrome|synovial osteochondromatosis gard_rare MONDO:0006435 submandibular gland adenocarcinoma biolink:Disease mondo UMLS:C1336521|EFO:1000554|NCIT:C5940 An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma. UMLS:C1336521|NCIT:C5940 http://purl.obolibrary.org/obo/MONDO_0006435 submandibular gland adenocarcinoma|adenocarcinoma of the submandibular gland|adenocarcinoma of submandibular gland MONDO:0006436 submandibular gland adenoid cystic carcinoma biolink:Disease mondo SCTID:423189008|NCIT:C5935|EFO:1000555|UMLS:C1336522 An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. SNOMEDCT:423189008|UMLS:C1336522|NCIT:C5935 http://purl.obolibrary.org/obo/MONDO_0006436 submandibular gland adenoid cystic carcinoma|adenoid cystic carcinoma of the submandibular gland|adenoid cystic carcinoma of submandibular gland MONDO:0006433 obsolete subcutaneous panniculitis-like T-cell lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006433 MONDO:0006434 obsolete Subependymoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006434 NCBITaxon:9604 Hominidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9604 great apes|Pongidae MONDO:0006431 obsolete splenic marginal zone lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006431 NCBITaxon:9605 Homo organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9605 humans MONDO:0006432 stromal predominant kidney Wilms tumor biolink:Disease mondo NCIT:C9148|DOID:5191|EFO:1000551|UMLS:C0279610 Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. NCIT:C9148|DOID:5191|UMLS:C0279610 http://purl.obolibrary.org/obo/MONDO_0006432 stromal predominant kidney Wilms' tumor|stromal predominant Wilms tumor|stromal predominant renal Wilm's tumor|stromal predominant nephroblastoma|stromal predominant renal Wilms' tumor|stromal predominant renal Wilms tumor|stromal predominant kidney adenosarcoma|stromal predominant kidney Wilms tumor|stromal predominant renal adenosarcoma NCBITaxon:9606 Homo sapiens organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9606 human|man MONDO:0006430 splenic mantle cell lymphoma biolink:Disease mondo EFO:1000549|UMLS:C2018777|NCIT:C7306 A mantle cell lymphoma occurring in the spleen. UMLS:C2018777|NCIT:C7306 http://purl.obolibrary.org/obo/MONDO_0006430 splenic mantle cell lymphoma FOODON:00002381 food product by organism biolink:OntologyClass mondo A food product consisting of food material derived primarily from a single organism. http://purl.obolibrary.org/obo/FOODON_00002381 HP:0003367 Abnormal femoral neck morphology biolink:PhenotypicFeature mondo UMLS:C4025621 An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). http://purl.obolibrary.org/obo/HP_0003367 Abnormality of the femoral neck|Abnormal neck of thigh bone MONDO:0018429 14q24.1q24.3 microdeletion syndrome biolink:Disease mondo UMLS:CN226142|Orphanet:401935|ICD10:Q93.5 ORPHA:401935|UMLS:CN226142 http://purl.obolibrary.org/obo/MONDO_0018429 monosomy 14q24.1q24.3|Del(14)(q24.1q24.3) ordo_malformation_syndrome HP:0030956 Abnormality of cardiovascular system electrophysiology biolink:PhenotypicFeature mondo An anomaly of the electrical conduction physiology of the heart. http://purl.obolibrary.org/obo/HP_0030956 HP:0003366 Abnormal femoral neck/head morphology biolink:PhenotypicFeature mondo UMLS:C4025622 http://purl.obolibrary.org/obo/HP_0003366 Abnormality of the femoral neck or head region|Abnormal neck or head of thigh bone MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis biolink:Disease mondo Orphanet:401911|UMLS:CN226139|ICD10:D12.6 UMLS:CN226139|ORPHA:401911 http://purl.obolibrary.org/obo/MONDO_0018426 AXIN2-related AFAP|AXIN2-related attenuated FAP|AXIN2-related attenuated familial polyposis coli ordo_clinical_subtype MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions biolink:Disease mondo ICD10:G10|Orphanet:401901|UMLS:CN226138 ORPHA:401901|UMLS:CN226138 http://purl.obolibrary.org/obo/MONDO_0018425 C9ORF72-related Huntington disease phenocopy|Huntington disease phenocopy due to C9ORF72 expansions|C9ORF72-related Huntington disease-like syndrome ordo_disease MONDO:0018428 9q31.1q31.3 microdeletion syndrome biolink:Disease mondo UMLS:CN226140|Orphanet:401923|ICD10:Q93.5 UMLS:CN226140|ORPHA:401923 http://purl.obolibrary.org/obo/MONDO_0018428 Del(9)(q31.1q31.3)|monosomy 9q31.1q31.3 ordo_malformation_syndrome MONDO:0018427 obsolete fibrolamellar carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018427 MONDO:0018422 autosomal recessive spastic paraplegia type 70 biolink:Disease mondo UMLS:CN226129|Orphanet:401835|ICD10:G11.4 Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. UMLS:CN226129|ORPHA:401835 http://purl.obolibrary.org/obo/MONDO_0018422 SPG70 ordo_disease MONDO:0018421 autosomal recessive spastic paraplegia type 69 biolink:Disease mondo ICD10:G11.4|UMLS:CN226128|Orphanet:401830 ORPHA:401830|UMLS:CN226128 http://purl.obolibrary.org/obo/MONDO_0018421 SPG69 ordo_disease MONDO:0018424 inherited lipoic acid biosynthesis defect biolink:Disease mondo GARD:0012679|ICD10:E88.8|Orphanet:401854 An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process. ORPHA:401854 http://purl.obolibrary.org/obo/MONDO_0018424 rare inborn error of lipoate biosynthetic process|inborn lipoate biosynthetic process disorder|lipoate biosynthesis defect|lipoic acid biosynthesis defect|rare inborn error of lipoate biosynthetic process|inborn error of lipoate biosynthetic process|lipoic acid biosynthesis defects ordo_group_of_disorders MONDO:0018423 autosomal recessive spastic paraplegia type 71 biolink:Disease mondo UMLS:CN226130|ICD10:G11.4|Orphanet:401840 UMLS:CN226130|ORPHA:401840 http://purl.obolibrary.org/obo/MONDO_0018423 SPG71 ordo_disease MONDO:0018420 autosomal recessive spastic paraplegia type 68 biolink:Disease mondo Orphanet:401825|UMLS:CN226127|ICD10:G11.4 UMLS:CN226127|ORPHA:401825 http://purl.obolibrary.org/obo/MONDO_0018420 SPG68 ordo_disease ECTO:0001108 aflatoxin exposure biolink:OntologyClass mondo An exposure to aflatoxin. http://purl.obolibrary.org/obo/ECTO_0001108 exposure to aflatoxin UBERON:0015281 pancreas right lobe biolink:AnatomicalEntity mondo A pancreatic lobule that is in_the_right_side_of a exocrine pancreas. http://purl.obolibrary.org/obo/UBERON_0015281 MONDO:0006448 testicular teratoma (disease) biolink:Disease mondo HP:0100616|EFO:1000573|NCIT:C3877 A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites. NCIT:C3877 http://purl.obolibrary.org/obo/MONDO_0006448 teratoma of testis|teratoma of the testis|testicular teratoma UBERON:0015280 pancreas left lobe biolink:AnatomicalEntity mondo A pancreatic lobule that is in_the_left_side_of a exocrine pancreas. http://purl.obolibrary.org/obo/UBERON_0015280 MONDO:0006449 obsolete testicular yolk sac tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006449 MONDO:0006446 testicular embryonal carcinoma biolink:Disease mondo UMLS:C0238448|DOID:5680|EFO:1000565|NCIT:C6341 A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent. UMLS:C0238448|DOID:5680|NCIT:C6341 http://purl.obolibrary.org/obo/MONDO_0006446 testis embryonal carcinoma|embryonal carcinoma of testis|testicular embryonal carcinoma|embryonal carcinoma of the testis|embryonal testis carcinoma MONDO:0006447 testicular non-seminomatous germ cell tumor biolink:Disease mondo UMLS:C1336724|DOID:4086|UMLS:CN204702|NCIT:C9313|ICD10:C62.1|EFO:1000570|ICDO:9065/3|Orphanet:363494 A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms. UMLS:C1336724|UMLS:CN204702|NCIT:C9313|ORPHA:363494|DOID:4086 http://purl.obolibrary.org/obo/MONDO_0006447 non-seminomatous germ cell tumor of testis|testicular germ cell tumor non-seminomatous|testicular non-dysgerminomatous germ cell tumor|testicular non seminomatous germ cell tumor|testicular non-seminomatous germ cell tumor|non-dysgerminomatous germ cell tumor of testis ordo_disease MONDO:0006444 teratoma with malignant transformation biolink:Disease mondo ICDO:9084/3|GARD:0010646|NCIT:C4289|ONCOTREE:TMT|EFO:1000563|UMLS:C0334523 A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous. NCIT:C4289|UMLS:C0334523 http://purl.obolibrary.org/obo/MONDO_0006444 dermoid cyst with malignant transformation|teratoma with malignant transformation|TMT gard_rare MONDO:0006445 obsolete testicular choriocarcinoma biolink:Disease mondo A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. http://purl.obolibrary.org/obo/MONDO_0006445 MONDO:0006442 tendon sheath fibroma biolink:Disease mondo SCTID:403992002|UMLS:C1275236|NCIT:C6485|ICD9:215.9|EFO:1000561 A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation. SNOMEDCT:403992002|NCIT:C6485|UMLS:C1275236 http://purl.obolibrary.org/obo/MONDO_0006442 fibroma of the tendon sheath|fibroma of tendon sheath|tendon sheath fibroma MONDO:0006443 obsolete tenosynovial giant cell tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006443 MONDO:0006440 obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006440 MONDO:0006441 obsolete T-cell prolymphocytic leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006441 MONDO:0018419 autosomal recessive spastic paraplegia type 67 biolink:Disease mondo Orphanet:401820|SCTID:766767001|UMLS:CN226126|ICD10:G11.4 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. SNOMEDCT:766767001|UMLS:CN226126|ORPHA:401820 http://purl.obolibrary.org/obo/MONDO_0018419 SPG67 ordo_disease MONDO:0018418 autosomal recessive spastic paraplegia type 66 biolink:Disease mondo UMLS:CN226125|ICD10:G11.4|Orphanet:401815 ORPHA:401815|UMLS:CN226125 http://purl.obolibrary.org/obo/MONDO_0018418 SPG66 ordo_disease MONDO:0018415 obsolete hymenolepiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018415 MONDO:0018414 female infertility due to an implantation defect of genetic origin biolink:Disease mondo Orphanet:400025|ICD10:N97.2 ORPHA:400025 http://purl.obolibrary.org/obo/MONDO_0018414 ordo_group_of_disorders HP:0030962 Abnormal morphology of the great vessels biolink:PhenotypicFeature mondo A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. http://purl.obolibrary.org/obo/HP_0030962 MONDO:0018417 autosomal recessive spastic paraplegia type 60 biolink:Disease mondo ICD10:G11.4|UMLS:CN226122|Orphanet:401800 UMLS:CN226122|ORPHA:401800 http://purl.obolibrary.org/obo/MONDO_0018417 SPG60 ordo_disease MONDO:0018416 autosomal recessive spastic paraplegia type 59 biolink:Disease mondo Orphanet:401795|UMLS:CN226121|ICD10:G11.4 UMLS:CN226121|ORPHA:401795 http://purl.obolibrary.org/obo/MONDO_0018416 SPG59 ordo_disease MONDO:0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin biolink:Disease mondo UMLS:CN227354|Orphanet:400011|ICD10:N97.0 An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. ORPHA:400011|UMLS:CN227354 http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder|rare female infertility due to gonadotropic axis disorder of genetic origin ordo_group_of_disorders|obsoletion_candidate NCBITaxon:31245 Schistosomatidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_31245 blood flukes MONDO:0018410 obsolete rare genetic female infertility biolink:Disease mondo UMLS:CN227353|Orphanet:400008 ORPHA:400008|UMLS:CN227353 http://purl.obolibrary.org/obo/MONDO_0018410 obsoletion_candidate|ordo_group_of_disorders MONDO:0018413 female infertility due to an anomaly of ovarian function of genetic origin biolink:Disease mondo Orphanet:400022|ICD10:N97.0|UMLS:CN227356 ORPHA:400022|UMLS:CN227356 http://purl.obolibrary.org/obo/MONDO_0018413 ordo_group_of_disorders|obsoletion_candidate MONDO:0018412 rare female infertility due to adrenal disorder of genetic origin biolink:Disease mondo Orphanet:400018|UMLS:CN227355 ORPHA:400018|UMLS:CN227355 http://purl.obolibrary.org/obo/MONDO_0018412 obsoletion_candidate|ordo_group_of_disorders NCBITaxon:31244 Schistosomatoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_31244 GO:0043170 macromolecule metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0043170 multicellular organismal macromolecule metabolic process|organismal macromolecule metabolism|biopolymer metabolic process|macromolecule metabolism NCBITaxon:116926 Philophthalmidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_116926 NCBITaxon:116925 Troglotremata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_116925 GO:0043177 organic acid binding biolink:OntologyClass mondo Interacting selectively and non-covalently with an organic acid, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0043177 UBERON:0005870 olfactory pit biolink:AnatomicalEntity mondo An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]. http://purl.obolibrary.org/obo/UBERON_0005870 nasal pit UBERON:0003216 hard palate biolink:AnatomicalEntity mondo Anterior portion of the palate consisting of bone and mucous membranes[GO]. The hard palate is formed from bony processes of the maxilla, premaxilla and palatine[Kardong]. http://purl.obolibrary.org/obo/UBERON_0003216 palatum durum|hard palate UBERON:0005879 pharyngeal cleft biolink:AnatomicalEntity mondo An external pocketing of pharyngeal ectoderm that contacts a region of endoderm (a pharyngeal pouch) and interdigitates in the anterior and posterior directions by the pharyngeal arches. http://purl.obolibrary.org/obo/UBERON_0005879 pharyngeal slit|pharyngeal groove|branchial cleft|branchial groove|pharyngeal groove ectoderm|gill cleft|Kiemenspalten|sulcus pharyngei|pharyngeal ectodermal cleft UBERON:0003214 mammary gland alveolus biolink:AnatomicalEntity mondo A sac-like structure that is found in the mature gland[GO]. http://purl.obolibrary.org/obo/UBERON_0003214 lobe of breast alveolus|alveolus of lobe of mammary gland|alveolus of mammary gland|lactiferous alveolus|lactiferous gland alveolus|mammary alveoli|mammary alveolus|alveolus of lactiferous gland|lobe of mammary gland alveolus|alveolus of lobe of breast UBERON:0005876 undifferentiated genital tubercle biolink:AnatomicalEntity mondo the embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin http://purl.obolibrary.org/obo/UBERON_0005876 phallic tubercle|tuberculum genitale|genital tubercle|undifferentiated genital tubercle|tuberculum phallicum UBERON:0003215 alveolus biolink:AnatomicalEntity mondo organ part that has the form of a hollow cavity[WP]. http://purl.obolibrary.org/obo/UBERON_0003215 UBERON:0003212 gustatory organ biolink:AnatomicalEntity mondo Any sense organ that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912). http://purl.obolibrary.org/obo/UBERON_0003212 taste organ|organ of gustatory system|organ of gustatory organ system|organ of taste system|gustatory system organ|gustatory organ system organ|taste system organ UBERON:0005874 3rd arch pharyngeal cleft biolink:AnatomicalEntity mondo A groove that is situated between the 3rd and 4th pharyngeal arch. http://purl.obolibrary.org/obo/UBERON_0005874 3rd pharyngeal cleft|3rd arch branchial groove|branchial groove of 3rd arch|3rd pharyngeal groove ectoderm|3rd branchial cleft|3rd arch groove ectoderm|3rd pharyngeal groove UBERON:0005873 2nd arch pharyngeal cleft biolink:AnatomicalEntity mondo A groove that is situated between the 2nd and 3rd pharyngeal arch. http://purl.obolibrary.org/obo/UBERON_0005873 2nd pharyngeal cleft|branchial groove of 2nd arch|2nd branchial cleft|2nd pharyngeal groove|2nd arch branchial groove|2nd pharyngeal groove ectoderm|2nd arch groove ectoderm UBERON:0005872 1st arch pharyngeal cleft biolink:AnatomicalEntity mondo A groove that is situated between the 1st and 2nd pharyngeal arch. http://purl.obolibrary.org/obo/UBERON_0005872 1st pharyngeal groove|branchial groove of 1st arch|1st arch branchial groove|1st pharyngeal groove ectoderm|1st arch groove ectoderm|1st pharyngeal cleft|1st branchial cleft UBERON:0005868 maxillary prominence biolink:AnatomicalEntity mondo the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw http://purl.obolibrary.org/obo/UBERON_0005868 maxillary process of embryo|maxillary process|embryonic maxillary process|prominentia maxilaris UBERON:0005867 mandibular prominence biolink:AnatomicalEntity mondo the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip http://purl.obolibrary.org/obo/UBERON_0005867 mandibular process|prominentia mandibularis|mandibular swelling UBERON:0005866 pre-cartilage condensation biolink:AnatomicalEntity mondo A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. http://purl.obolibrary.org/obo/UBERON_0005866 pre-chondrogenic condensation|precartilagenous condensation|precartilage condensation|prechondrogenic condensation UBERON:0005865 pre-muscle condensation biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005865 pre muscle mass|premuscle mass UBERON:0005863 cartilaginous condensation biolink:AnatomicalEntity mondo Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. http://purl.obolibrary.org/obo/UBERON_0005863 cartilagenous condensation|cartilage condensation|chondrogenic condensation GO:0080135 regulation of cellular response to stress biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/GO_0080135 GO:0080134 regulation of response to stress biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a response to stress. Response to stress is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/GO_0080134 UBERON:0005856 developing mesenchymal condensation biolink:AnatomicalEntity mondo A delimited region of dense mesenchyme within looser mesenchyme. http://purl.obolibrary.org/obo/UBERON_0005856 mesenchyme condensation HGNC:1402 CACNB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1402 UBERON:0005855 lumbar spinal cord ventral column biolink:AnatomicalEntity mondo A subdivision of spinal cord ventral column that is part of a lumbar spinal cord. http://purl.obolibrary.org/obo/UBERON_0005855 UBERON:0005854 cervical spinal cord ventral column biolink:AnatomicalEntity mondo A subdivision of spinal cord ventral column that is part of a cervical spinal cord. http://purl.obolibrary.org/obo/UBERON_0005854 cervical spinal cord anterior column UBERON:0005853 sacral spinal cord ventral column biolink:AnatomicalEntity mondo A subdivision of spinal cord ventral column that is part of a sacral spinal cord. http://purl.obolibrary.org/obo/UBERON_0005853 UBERON:0005852 thoracic spinal cord ventral column biolink:AnatomicalEntity mondo A subdivision of spinal cord ventral column that is part of a thoracic spinal cord. http://purl.obolibrary.org/obo/UBERON_0005852 CHEBI:46883 carboxy group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_46883 -CO2H|carboxyl group|carboxy|CARBOXY GROUP|-C(O)OH|-COOH UBERON:0005838 fasciculus of brain biolink:AnatomicalEntity mondo A fascicle that is part of a brain. http://purl.obolibrary.org/obo/UBERON_0005838 brain fasciculus HGNC:1406 CACNG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1406 UBERON:0005837 fasciculus of spinal cord biolink:AnatomicalEntity mondo A fascicle that is part of a spinal cord. http://purl.obolibrary.org/obo/UBERON_0005837 spinal cord fasciculus HGNC:1404 CACNB4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1404 HP:0005912 Biliary atresia biolink:PhenotypicFeature mondo MSH:D001656|SNOMEDCT_US:82821008|SNOMEDCT_US:77480004|UMLS:C0005411 Atresia of the biliary tree. http://purl.obolibrary.org/obo/HP_0005912 Biliary duct atresia UBERON:0005845 caudal segment of spinal cord biolink:AnatomicalEntity mondo A spinal cord segment that adjacent_to a caudal region. http://purl.obolibrary.org/obo/UBERON_0005845 segmenta coccygea medullae spinalis [1-3]|segmenta coccygea|coccygeal segment of spinal cord|coccygeal segments of spinal cord [1-3]|pars coccygea medullae spinalis UBERON:0005844 spinal cord segment biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005844 spinal neuromeres|axial regional part of spinal cord|segment of spinal cord|axial part of spinal cord UBERON:0005843 sacral spinal cord biolink:AnatomicalEntity mondo A spinal cord segment that adjacent_to a sacral region. http://purl.obolibrary.org/obo/UBERON_0005843 segmenta sacralia medullae spinalis [1-5]|pars sacralis medullae spinalis|sacral segments of spinal cord [1-5]|sacral segment of spinal cord NCBITaxon:31286 Trypanosoma brucei rhodesiense organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_31286 Trypanosoma brucei subsp. rhodesiense|Trypanosoma (Trypanozoon) brucei rhodesiense NCBITaxon:31285 Trypanosoma brucei gambiense organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_31285 Trypanosoma gambiense|Trypanosoma brucei subsp. gambiense|Trypanosoma (Trypanozoon) brucei gambiense UBERON:0015238 pineal complex biolink:AnatomicalEntity mondo A cluster in the epithalamus that consists of the pineal body and any associated structures, such as the parapineal gland or the parietal organ. The complex is poorly developed in mammals. http://purl.obolibrary.org/obo/UBERON_0015238 HP:0003307 Hyperlordosis biolink:PhenotypicFeature mondo UMLS:C0024003|SNOMEDCT_US:249710008|MSH:D008141|SNOMEDCT_US:61960001 Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine. http://purl.obolibrary.org/obo/HP_0003307 Prominent swayback|Lordosis hposlim_core GO:0080154 regulation of fertilization biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/GO_0080154 UBERON:0003252 thoracic rib cage biolink:AnatomicalEntity mondo Subdivision of skeletal system that consists of all ribs in an organism connected to the sternum and the vertebrae. Some vertebrates have abdominal ribs (gastrialia), not connected to the vertebrate - these are not considered part of the rib case. http://purl.obolibrary.org/obo/UBERON_0003252 cavea thoracis|cavea thoracis|thoracic cage|rib cage UBERON:0003253 neck of rib biolink:AnatomicalEntity mondo The neck of the rib is the flattened portion which extends lateralward from the head; it is about 2.5 cm. long, and is placed in front of the transverse process of the lower of the two vertebrC& with which the head articulates. Its anterior surface is flat and smooth, its posterior rough for the attachment of the ligament of the neck, and perforated by numerous foramina. Of its two borders the superior presents a rough crest (crista colli costE) for the attachment of the anterior costotransverse ligament; its inferior border is rounded. On the posterior surface at the junction of the neck and body, and nearer the lower than the upper border, is an eminencebthe tubercle; it consists of an articular and a non-articular portion. The articular portion, the lower and more medial of the two, presents a small, oval surface for articulation with the end of the transverse process of the lower of the two vertebrC& to which the head is connected. The non-articular portion is a rough elevation, and affords attachment to the ligament of the tubercle. The tubercle is much more prominent in the upper than in the lower ribs. http://purl.obolibrary.org/obo/UBERON_0003253 collum costae|collum costae|rib neck HGNC:1424 CAD biolink:OntologyClass mondo http://identifiers.org/hgnc/1424 UBERON:0003258 endoderm of foregut biolink:AnatomicalEntity mondo An endoderm that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003258 foregut endoderm HGNC:1421 SLC25A20 biolink:OntologyClass mondo http://identifiers.org/hgnc/1421 UBERON:0003259 endoderm of midgut biolink:AnatomicalEntity mondo An endoderm that is part of a midgut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003259 midgut endoderm UBERON:0003257 yolk sac endoderm biolink:AnatomicalEntity mondo The portion of the yolk sac that is derived from endoderm and lines the yolk sac. http://purl.obolibrary.org/obo/UBERON_0003257 UBERON:0003254 amniotic ectoderm biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0003254 amnion ectoderm|amnion epithelium|amnionic ectoderm UBERON:0015228 circulatory organ biolink:AnatomicalEntity mondo A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. http://purl.obolibrary.org/obo/UBERON_0015228 circulatory vessel|heart or heart like organ|cardiac pump|heart|cardiac structure GO:0080144 amino acid homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. http://purl.obolibrary.org/obo/GO_0080144 GO:0080145 cysteine homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. http://purl.obolibrary.org/obo/GO_0080145 HP:0003312 Abnormal form of the vertebral bodies biolink:PhenotypicFeature mondo UMLS:C1839326 Abnormal morphology of vertebral body. http://purl.obolibrary.org/obo/HP_0003312 Abnormally shaped vertebrae UBERON:0003249 epithelium of otic placode biolink:AnatomicalEntity mondo An epithelium that is part of a otic placode [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003249 epithelial tissue of otic placode|otic placode epithelial tissue|otic epithelium|otic placode epithelium UBERON:0003247 epithelium of forearm biolink:AnatomicalEntity mondo An epithelium that is part of a lower arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003247 forearm epithelium UBERON:0003248 epithelium of footplate biolink:AnatomicalEntity mondo An epithelium that is part of a footplate. http://purl.obolibrary.org/obo/UBERON_0003248 foot plate epithelium|footplate epithelium UBERON:0003246 epithelium of endolymphatic sac biolink:AnatomicalEntity mondo An epithelium that is part of a endolymphatic sac [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003246 epithelial tissue of endolymphatic sac|endolymphatic sac epithelium|endolymphatic sac epithelial tissue UBERON:0003244 epithelium of mammary gland biolink:AnatomicalEntity mondo the epithelial layer of the luminal surfaces of the mammary gland http://purl.obolibrary.org/obo/UBERON_0003244 mammary gland epithelium|mammary gland epithelial tissue|epithelium of lactiferous gland|lactiferous gland epithelium|mammary epithelium CHEBI:22881 biopterins biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_22881 UBERON:0003229 epithelium of elbow biolink:AnatomicalEntity mondo An epithelium that is part of a elbow [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003229 cubital region epithelial tissue|elbow epithelium|epithelial tissue of cubital region|epithelial tissue of elbow|epithelium of cubital region|elbow epithelial tissue|cubital region epithelium UBERON:0015215 median arcuate ligament biolink:AnatomicalEntity mondo The median arcuate ligament is a ligament under the diaphragm that connects the right and left crura of diaphragm. http://purl.obolibrary.org/obo/UBERON_0015215 UBERON:0015212 lateral structure biolink:AnatomicalEntity mondo Any structure that is placed on one side of the left-right axis of a bilaterian. http://purl.obolibrary.org/obo/UBERON_0015212 UBERON:0015214 arcuate ligament biolink:AnatomicalEntity mondo A ligament that is part of a diaphragm. http://purl.obolibrary.org/obo/UBERON_0015214 UBERON:0005893 leg bone biolink:AnatomicalEntity mondo A bone that is part of the region of the hindlimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia. Counter-examples: any pes phalanx http://purl.obolibrary.org/obo/UBERON_0005893 UBERON:0003230 epithelium of carpal region biolink:AnatomicalEntity mondo An epithelium that is part of a wrist [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003230 epithelium of wrist|epithelial tissue of wrist|carpal region epithelium|epithelial tissue of carpal region|wrist epithelial tissue|wrist epithelium|carpal region epithelial tissue UBERON:0003231 epithelium of hip biolink:AnatomicalEntity mondo An epithelium that is part of a hip [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003231 regio coxae epithelial tissue|hip region epithelium|hip region epithelial tissue|regio coxae epithelium|epithelial tissue of hip|epithelium of regio coxae|hip epithelial tissue|hip epithelium|epithelial tissue of hip region|epithelial tissue of regio coxae|epithelium of hip region UBERON:0005891 coelomic epithelium biolink:AnatomicalEntity mondo The epithelial lining of the surface of the coelom. http://purl.obolibrary.org/obo/UBERON_0005891 germinal epithelium of Waldeyer|celomic epithelium NCBITaxon:2572558 Ancylostomatoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2572558 HGNC:1445 CALM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1445 UBERON:0003236 epithelium of lower jaw biolink:AnatomicalEntity mondo An epithelium that is part of a lower jaw [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003236 ventral mandibular arch epithelium|epithelium of ventral mandibular arch|epithelial tissue of ventral mandibular arch|epithelial tissue of lower jaw|ventral mandibular arch epithelial tissue|lower jaw epithelial tissue|lower jaw epithelium UBERON:0005899 pes bone biolink:AnatomicalEntity mondo A bone that is part of the pes skeleton http://purl.obolibrary.org/obo/UBERON_0005899 bone of pes|bone of pedal skeleton|bone of foor proper or tarsal skeleton|bone of foot|foot bone UBERON:0005897 manus bone biolink:AnatomicalEntity mondo A bone that is part of the manus skeleton. Note that this includes the carpal bones. http://purl.obolibrary.org/obo/UBERON_0005897 bone of hand skeleton|forelimb autopod bone|bone of hand|bone of manus|bone of pectoral limb autopodium|forelimb autopodium bone|bone of pectoral limb autopod|hand bone UBERON:0003235 epithelium of upper jaw biolink:AnatomicalEntity mondo An epithelium that is part of a upper jaw [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003235 epithelial tissue of upper jaw|epithelium of palatoquadrate arch|upper jaw epithelial tissue|epithelial tissue of palatoquadrate arch|palatoquadrate arch epithelium|palatoquadrate arch epithelial tissue|upper jaw epithelium HGNC:1442 CALM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1442 UBERON:0003232 epithelium of knee biolink:AnatomicalEntity mondo An epithelium that is part of a knee [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003232 knee epithelial tissue|epithelial tissue of knee|knee epithelium UBERON:0003233 epithelium of shoulder biolink:AnatomicalEntity mondo An epithelium that is part of a shoulder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003233 epithelial tissue of shoulder|shoulder epithelial tissue|shoulder epithelium HGNC:1440 CALCR biolink:OntologyClass mondo http://identifiers.org/hgnc/1440 NCBITaxon:2559587 Riboviria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2559587 RNA viruses|RNA viruses and viroids UBERON:0003218 ovary septum biolink:AnatomicalEntity mondo Septum that divides the ovary, the basal portion of a carpel or group of fused carpels, that encloses the ovule(s)[GO]. http://purl.obolibrary.org/obo/UBERON_0003218 UBERON:0003220 metanephric mesenchyme biolink:AnatomicalEntity mondo one of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO] http://purl.obolibrary.org/obo/UBERON_0003220 metanephros associated mesenchyme|metanephrogenic mesenchyme|metanephric blastema|metanephric mesoderm UBERON:0005881 autopodial extension biolink:AnatomicalEntity mondo A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. http://purl.obolibrary.org/obo/UBERON_0005881 limb outgrowth|digit or predigit HGNC:1455 CALR biolink:OntologyClass mondo http://identifiers.org/hgnc/1455 UBERON:0003221 phalanx biolink:AnatomicalEntity mondo Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. http://purl.obolibrary.org/obo/UBERON_0003221 phalanges|digit long bone|phalange|long bone of digit|phalanx bone UBERON:0005884 hyoid arch skeleton biolink:AnatomicalEntity mondo A subdivision of skeleton that supports pharyngeal arch 2. http://purl.obolibrary.org/obo/UBERON_0005884 hyocïde@fr|hyoid arch skeleton|hyal@fr|pharyngeal arch 2 skeleton|hyoid bars|visceral arch 2|hyoid arch MONDO:0043283 silicosiderosis biolink:Disease mondo EFO:1001855|SCTID:34004002|UMLS:C0018929|GARD:0008372|MESH:C537337 UMLS:C0018929|SNOMEDCT:34004002|MESH:C537337 http://purl.obolibrary.org/obo/MONDO_0043283 hematite pneumoconiosis|iron miners lung|hematite miners' lung disease|siderosilicosis|silicosiderosis gard_rare GO:0031348 negative regulation of defense response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response. http://purl.obolibrary.org/obo/GO_0031348 downregulation of defense response|down regulation of defense response|inhibition of defense response|down-regulation of defense response HGNC:18194 ZNF365 biolink:OntologyClass mondo http://identifiers.org/hgnc/18194 GO:0031349 positive regulation of defense response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a defense response. http://purl.obolibrary.org/obo/GO_0031349 up regulation of defense response|stimulation of defense response|up-regulation of defense response|activation of defense response|upregulation of defense response MONDO:0043280 Wallerian degeneration biolink:Disease mondo NCIT:C85223|MESH:D014855|GARD:0007875 A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness. MESH:D014855|NCIT:C85223 http://purl.obolibrary.org/obo/MONDO_0043280 Degeneration, Wallerian|Wallerian Degeneration|Wallerian degeneration of the pyramidal tract gard_rare GO:0031346 positive regulation of cell projection organization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. http://purl.obolibrary.org/obo/GO_0031346 positive regulation of cell projection organisation|upregulation of cell projection organization|positive regulation of cell projection organization and biogenesis|up regulation of cell projection organization|stimulation of cell projection organization|up-regulation of cell projection organization|activation of cell projection organization GO:0031347 regulation of defense response biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a defense response. http://purl.obolibrary.org/obo/GO_0031347 NCBITaxon:2560547 La Crosse orthobunyavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2560547 GO:0045995 regulation of embryonic development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of embryonic development. http://purl.obolibrary.org/obo/GO_0045995 GO:0045992 negative regulation of embryonic development biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development. http://purl.obolibrary.org/obo/GO_0045992 down regulation of embryonic development|downregulation of embryonic development|inhibition of embryonic development|down-regulation of embryonic development MONDO:0043287 superior vena cava syndrome biolink:Disease mondo SCTID:63363004|MESH:D013479|GARD:0009264|NCIT:C3396 Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache. SNOMEDCT:63363004|NCIT:C3396|MESH:D013479 http://purl.obolibrary.org/obo/MONDO_0043287 SVC syndrome|superior vena cava syndrome|SVC obstruction|SVCS|superior vena cava thrombosis|superior vena cava obstruction gard_rare GO:0006390 mitochondrial transcription biolink:OntologyClass mondo The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase. http://purl.obolibrary.org/obo/GO_0006390 transcription from mitochondrial promoter GO:0031344 regulation of cell projection organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. http://purl.obolibrary.org/obo/GO_0031344 regulation of cell projection organisation|regulation of cell projection organization and biogenesis GO:0031345 negative regulation of cell projection organization biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. http://purl.obolibrary.org/obo/GO_0031345 down regulation of cell projection organization|inhibition of cell projection organization|down-regulation of cell projection organization|negative regulation of cell projection organization and biogenesis|downregulation of cell projection organization|negative regulation of cell projection organisation GO:0031342 negative regulation of cell killing biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing. http://purl.obolibrary.org/obo/GO_0031342 down regulation of cell killing|inhibition of cell killing|down-regulation of cell killing|downregulation of cell killing GO:0031343 positive regulation of cell killing biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cell killing. http://purl.obolibrary.org/obo/GO_0031343 upregulation of cell killing|up regulation of cell killing|stimulation of cell killing|activation of cell killing|up-regulation of cell killing GO:0031341 regulation of cell killing biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism. http://purl.obolibrary.org/obo/GO_0031341 MONDO:0043294 linear scleroderma biolink:Disease mondo SCTID:22784002|NCIT:C116780|GARD:0009513 A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. NCIT:C116780|SNOMEDCT:22784002 http://purl.obolibrary.org/obo/MONDO_0043294 en coup de sabre|Scleroderma, linear|linear Scleroderma|linear morphea|linear scleroderma gard_rare GO:0031337 positive regulation of sulfur amino acid metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. http://purl.obolibrary.org/obo/GO_0031337 upregulation of sulfur amino acid metabolic process|up-regulation of sulfur amino acid metabolic process|up regulation of sulfur amino acid metabolic process|activation of sulfur amino acid metabolic process|positive regulation of sulfur amino acid metabolism|stimulation of sulfur amino acid metabolic process MONDO:0043291 Rokitansky-Aschoff sinuses of the gallbladder biolink:Disease mondo SCTID:22149007|UMLS:C0267892|MESH:C535869|GARD:0009419 An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones. UMLS:C0267892|SNOMEDCT:22149007|MESH:C535869 http://purl.obolibrary.org/obo/MONDO_0043291 intramural diverticulosis of the gallbladder|Aschoff-Rokitansky sinuses|Rokitansky-Aschoff sinuses gard_rare GO:0031335 regulation of sulfur amino acid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. http://purl.obolibrary.org/obo/GO_0031335 regulation of sulfur amino acid metabolism GO:0031336 negative regulation of sulfur amino acid metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. http://purl.obolibrary.org/obo/GO_0031336 down-regulation of sulfur amino acid metabolic process|down regulation of sulfur amino acid metabolic process|downregulation of sulfur amino acid metabolic process|inhibition of sulfur amino acid metabolic process|negative regulation of sulfur amino acid metabolism MONDO:0043297 vibrio vulnificus infectious disease biolink:Disease mondo GARD:0009584|UMLS:C1274377|MESH:C536348|SCTID:402965002 An disease or disorder caused by infection with Vibrio vulnificus. UMLS:C1274377|SNOMEDCT:402965002|MESH:C536348 http://purl.obolibrary.org/obo/MONDO_0043297 Vibrio vulnificus infectious disease|vibrio vulnificus infectious disease|Vibrio vulnificus caused disease or disorder|Vibrio vulnificus disease or disorder|vibrio vulnificus infection gard_rare GO:0006396 RNA processing biolink:OntologyClass mondo Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. http://purl.obolibrary.org/obo/GO_0006396 GO:0031333 negative regulation of protein-containing complex assembly biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. http://purl.obolibrary.org/obo/GO_0031333 downregulation of protein complex assembly|down regulation of protein complex assembly|inhibition of protein complex assembly|down-regulation of protein complex assembly|negative regulation of protein complex assembly GO:0031334 positive regulation of protein-containing complex assembly biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein complex assembly. http://purl.obolibrary.org/obo/GO_0031334 stimulation of protein complex assembly|up-regulation of protein complex assembly|positive regulation of protein complex assembly|activation of protein complex assembly|upregulation of protein complex assembly|up regulation of protein complex assembly GO:0031331 positive regulation of cellular catabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0031331 upregulation of cellular catabolic process|positive regulation of cellular breakdown|up regulation of cellular catabolic process|stimulation of cellular catabolic process|up-regulation of cellular catabolic process|activation of cellular catabolic process|positive regulation of cellular catabolism|positive regulation of cellular degradation GO:0033993 response to lipid biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/GO_0033993 GO:0031330 negative regulation of cellular catabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0031330 down regulation of cellular catabolic process|negative regulation of cellular catabolism|inhibition of cellular catabolic process|down-regulation of cellular catabolic process|negative regulation of cellular degradation|downregulation of cellular catabolic process|negative regulation of cellular breakdown GO:0031328 positive regulation of cellular biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0031328 up-regulation of cellular biosynthetic process|positive regulation of cellular anabolism|up regulation of cellular biosynthetic process|activation of cellular biosynthetic process|positive regulation of cellular biosynthesis|positive regulation of cellular synthesis|stimulation of cellular biosynthetic process|positive regulation of cellular formation|upregulation of cellular biosynthetic process SO:0002122 immunoglobulin_gene biolink:SequenceFeature mondo A germline immunoglobulin gene. http://purl.obolibrary.org/obo/SO_0002122 IG_genes|All_IG_genes GO:0031329 regulation of cellular catabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0031329 regulation of cellular breakdown|regulation of cellular degradation|regulation of cellular catabolism GO:0031326 regulation of cellular biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular anabolism|regulation of cellular synthesis|regulation of cellular biosynthesis|regulation of cellular formation HGNC:18171 CD244 biolink:OntologyClass mondo http://identifiers.org/hgnc/18171 GO:0031327 negative regulation of cellular biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0031327 downregulation of cellular biosynthetic process|inhibition of cellular biosynthetic process|negative regulation of cellular synthesis|negative regulation of cellular formation|down-regulation of cellular biosynthetic process|negative regulation of cellular biosynthesis|down regulation of cellular biosynthetic process|negative regulation of cellular anabolism SO:0002121 vertebrate_immune_system_gene biolink:SequenceFeature mondo The configuration of the IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci). http://purl.obolibrary.org/obo/SO_0002121 immune_gene GO:0031324 negative regulation of cellular metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/GO_0031324 inhibition of cellular metabolic process|down-regulation of cellular metabolic process|downregulation of cellular metabolic process|negative regulation of cellular metabolism|down regulation of cellular metabolic process GO:0031325 positive regulation of cellular metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/GO_0031325 upregulation of cellular metabolic process|up regulation of cellular metabolic process|positive regulation of cellular metabolism|stimulation of cellular metabolic process|up-regulation of cellular metabolic process|activation of cellular metabolic process GO:0006366 transcription by RNA polymerase II biolink:OntologyClass mondo The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). http://purl.obolibrary.org/obo/GO_0006366 gene-specific transcription from RNA polymerase II promoter|RNA polymerase II transcription factor activity|general transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription from Pol II promoter|specific transcription from RNA polymerase II promoter GO:0031323 regulation of cellular metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolism HGNC:18179 VPS33A biolink:OntologyClass mondo http://identifiers.org/hgnc/18179 MONDO:0018293 congenital disorder of glycosylation with skin involvement biolink:Disease mondo Orphanet:371200|ICD10:E77.8 ORPHA:371200 http://purl.obolibrary.org/obo/MONDO_0018293 CDG with skin involvement ordo_group_of_disorders MONDO:0018292 congenital disorder of glycosylation-related bone disorder biolink:Disease mondo Orphanet:371195|ICD10:E77.8 ORPHA:371195 http://purl.obolibrary.org/obo/MONDO_0018292 CDG-related bone disorder ordo_group_of_disorders CHEBI:44185 methotrexate biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_44185 Emtexate|METHOTREXATE|Methotrexate|MTX|Trexall|methotrexatum|methotrexate|N-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzoyl)-L-glutamic acid|Rheumatrex|Ledertrexate|metotrexato|N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid|4-amino-N(10)-methylpteroylglutamic acid|4-amino-10-methylfolic acid HGNC:18187 SIAE biolink:OntologyClass mondo http://identifiers.org/hgnc/18187 MONDO:0018295 congenital disorder of glycosylation with deafness as a major feature biolink:Disease mondo Orphanet:371212|ICD10:E77.8 ORPHA:371212 http://purl.obolibrary.org/obo/MONDO_0018295 CDG with deafness as a major feature ordo_group_of_disorders|obsoletion_candidate MONDO:0018294 congenital disorder of glycosylation with nephropathy as a major feature biolink:Disease mondo Orphanet:371207|ICD10:E77.8 ORPHA:371207 http://purl.obolibrary.org/obo/MONDO_0018294 CDG with nephropathy as a major feature ordo_group_of_disorders|obsoletion_candidate HGNC:18183 GIPC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/18183 MONDO:0018291 congenital disorder of glycosylation with intestinal involvement biolink:Disease mondo Orphanet:371188|ICD10:E77.8 ORPHA:371188 http://purl.obolibrary.org/obo/MONDO_0018291 CDG with intestinal involvement ordo_group_of_disorders MONDO:0018290 congenital disorder of glycosylation with cardiac malformation as a major feature biolink:Disease mondo Orphanet:371183|ICD10:E77.8 ORPHA:371183 http://purl.obolibrary.org/obo/MONDO_0018290 CDG with cardiac malformation as a major feature obsoletion_candidate|ordo_group_of_disorders GO:0043368 positive T cell selection biolink:OntologyClass mondo The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death. http://purl.obolibrary.org/obo/GO_0043368 positive T-cell selection|positive T lymphocyte selection|positive T-lymphocyte selection MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome biolink:Disease mondo UMLS:CN204877|Orphanet:371364|ICD10:Q87.8 Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). ORPHA:371364|UMLS:CN204877 http://purl.obolibrary.org/obo/MONDO_0018297 infantile hypotonia-psychomotor retardation-characteristic facies syndrome|IHPRF syndrome ordo_disease MONDO:0018296 congenital disorder of glycosylation with developmental anomaly biolink:Disease mondo Orphanet:371235|ICD10:E77.8|GARD:0012782 ORPHA:371235 http://purl.obolibrary.org/obo/MONDO_0018296 CDG with developmental anomaly gard_rare|ordo_group_of_disorders MONDO:0018299 sphingolipidosis with epilepsy biolink:Disease mondo Orphanet:371442 ORPHA:371442 http://purl.obolibrary.org/obo/MONDO_0018299 ordo_group_of_disorders MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum biolink:Disease mondo SCTID:716868003|ICD10:Q85.9|UMLS:CN227313|Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. UMLS:CN227313|SNOMEDCT:716868003|ORPHA:371428 http://purl.obolibrary.org/obo/MONDO_0018298 mona spectrum ordo_disease HGNC:18153 TNFRSF13B biolink:OntologyClass mondo http://identifiers.org/hgnc/18153 MONDO:0043240 hemophilic arthropathy biolink:Disease mondo SCTID:80813006|GARD:0006592|NCIT:C27039|UMLS:C0263725 A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space. NCIT:C27039|SNOMEDCT:80813006|UMLS:C0263725 http://purl.obolibrary.org/obo/MONDO_0043240 arthropathy in hemophilia|hemophilic arthropathy|hemophilic arthritis gard_rare GO:0031304 intrinsic component of mitochondrial inner membrane biolink:OntologyClass mondo The component of the mitochondrial inner membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/GO_0031304 intrinsic to mitochondrial inner membrane GO:0031305 integral component of mitochondrial inner membrane biolink:OntologyClass mondo The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/GO_0031305 integral to mitochondrial inner membrane HGNC:18150 MYO18B biolink:OntologyClass mondo http://identifiers.org/hgnc/18150 MONDO:0043247 Mallory-Weiss syndrome biolink:Disease mondo GARD:0006967|UMLS:C0024633|SCTID:35265002|NCIT:C84881|MESH:D008309 A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics. MESH:D008309|UMLS:C0024633|SNOMEDCT:35265002|NCIT:C84881 http://purl.obolibrary.org/obo/MONDO_0043247 mucosal lacerations - gastroesophageal junction|Lacerations-gastroesophageal junction, mucosal|mucosal Lacerations gastroesophageal junction|Mallory Weiss laceration|junction, mucosal Lacerations-gastroesophageal|gastro-esophageal laceration-hemorrhage syndrome|syndrome, Mallory-Weiss|Lacerations-gastroesophageal junctions, mucosal|Mallory-Weiss laceration|gastroesophageal laceration-hemorrhage syndrome|laceration-hemorrhages, gastroesophageal|junctions, mucosal Lacerations-gastroesophageal|laceration-hemorrhage, gastroesophageal|Mallory-Weiss syndrome|Mallory Weiss tear|gastroesophageal laceration hemorrhage|Mallory Weiss syndrome|laceration, Mallory-Weiss|mucosal Lacerations-gastroesophageal junctions|gastroesophageal laceration-hemorrhage|mucosal Lacerations-gastroesophageal junction|Mallory-Weiss tear|gastroesophageal laceration-hemorrhages gard_rare MONDO:0043243 leukoplakia biolink:Disease mondo NCIT:C3186|SCTID:274134003|MESH:D007971|GARD:0006897|UMLS:C0023531 A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. MESH:D007971|UMLS:C0023531|NCIT:C3186|SNOMEDCT:274134003 http://purl.obolibrary.org/obo/MONDO_0043243 leukoplakias|leukoplakic lesions|keratotic plaque|leukoplakia|leukoplakic lesion|lesion, leukoplakic|leukokeratoses|leukokeratosis|lesions, leukoplakic gard_rare GO:0031300 intrinsic component of organelle membrane biolink:OntologyClass mondo The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/GO_0031300 intrinsic to organelle membrane GO:0031301 integral component of organelle membrane biolink:OntologyClass mondo The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/GO_0031301 integral to organelle membrane GO:0070991 medium-chain-acyl-CoA dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a medium-chain fatty acid residue. A medium chain fatty acid is any fatty acid with a chain length of between C6 and C12. http://purl.obolibrary.org/obo/GO_0070991 MCAD activity MONDO:0043251 odontoma biolink:Disease mondo GARD:0007247|ICDO:9280/0|NCIT:C3287|MESH:D009810 A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported. NCIT:C3287|MESH:D009810 http://purl.obolibrary.org/obo/MONDO_0043251 odontoma|ameloblastic fibro-odontomas|fibroodontomas|odontoma, compound|fibro odontoma, ameloblastic|fibroodontoma|odontomas|odontoma, benign|fibro-odontomas|odontomas, compound|ameloblastic fibro-odontoma|fibro-odontoma, ameloblastic|compound odontomas|fibro-odontomas, ameloblastic|compound odontoma|fibro odontoma|fibro-odontoma gard_rare HP:0040069 Abnormal lower limb bone morphology biolink:PhenotypicFeature mondo UMLS:C4022457|UMLS:C4022455 http://purl.obolibrary.org/obo/HP_0040069 Abnormal morphology of bones of the lower limbs|Abnormal shape of bones of the lower limbs|Abnormality of lower limb bone GO:0006357 regulation of transcription by RNA polymerase II biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/GO_0006357 global transcription regulation from Pol II promoter|regulation of global transcription from Pol II promoter|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from Pol II promoter|regulation of transcription from RNA polymerase II promoter, global|regulation of transcription from RNA polymerase II promoter GO:0043388 positive regulation of DNA binding biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/GO_0043388 stimulation of DNA binding|upregulation of DNA binding|up-regulation of DNA binding|up regulation of DNA binding|activation of DNA binding MONDO:0043257 pemphigus and fogo selvagem biolink:Disease mondo HGNC:3048|MESH:C535551|SCTID:46459009|GARD:0007353|UMLS:C0263314 MESH:C535551|UMLS:C0263314|SNOMEDCT:46459009 http://purl.obolibrary.org/obo/MONDO_0043257 FS|amendola's syndrome|Brazilian pemphigus foliaceus|Brazilian pemphigus|wild fire|wildfire pemphigus|endemic pemphigus foliaceus|fogo selvagem|South American pemphigus gard_rare GO:0006355 regulation of transcription, DNA-templated biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/GO_0006355 transcriptional control|regulation of cellular transcription, DNA-dependent|regulation of transcription, DNA-dependent|regulation of gene-specific transcription GO:0006351 transcription, DNA-templated biolink:OntologyClass mondo The cellular synthesis of RNA on a template of DNA. http://purl.obolibrary.org/obo/GO_0006351 cellular transcription|DNA-dependent transcription|cellular transcription, DNA-dependent|transcription regulator activity|transcription|transcription, DNA-dependent GO:0043384 pre-T cell receptor complex biolink:OntologyClass mondo A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. http://purl.obolibrary.org/obo/GO_0043384 pre-T-lymphocyte receptor complex|pre-TCR complex|pre-T lymphocyte receptor complex|pre-T-cell receptor complex MONDO:0043254 papular urticaria biolink:Disease mondo MESH:C537169|GARD:0007322|SCTID:55608001 SNOMEDCT:55608001|MESH:C537169 http://purl.obolibrary.org/obo/MONDO_0043254 urticaria papulosa of hebra|lichen urticatus|prurigo simplex|strophulus|bullous papular urticaria - type|papular urticaria gard_rare HP:0040064 Abnormality of limbs biolink:PhenotypicFeature mondo SNOMEDCT_US:445144002|UMLS:C4073131|UMLS:C0239337 http://purl.obolibrary.org/obo/HP_0040064 Abnormal limbs|Limb anomaly|Abnormality of limbs|Dysmelia HP:0040068 Abnormality of limb bone biolink:PhenotypicFeature mondo UMLS:C4022456 http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone HGNC:18169 FKBP10 biolink:OntologyClass mondo http://identifiers.org/hgnc/18169 HP:0040066 obsolete Abnormal morphology of bones of the lower limbs biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0040066 GO:0043393 regulation of protein binding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein binding. http://purl.obolibrary.org/obo/GO_0043393 GO:0043392 negative regulation of DNA binding biolink:OntologyClass mondo Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/GO_0043392 down regulation of DNA binding|downregulation of DNA binding|inhibition of DNA binding|down-regulation of DNA binding HGNC:18130 SYCP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/18130 GO:0006323 DNA packaging biolink:OntologyClass mondo Any process in which DNA and associated proteins are formed into a compact, orderly structure. http://purl.obolibrary.org/obo/GO_0006323 DNA condensation|DNA organisation|DNA organization MONDO:0043267 rheumatoid vasculitis biolink:Disease mondo GARD:0007577|SCTID:400054000|MESH:D056653|UMLS:C0240903 Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex. UMLS:C0240903|MESH:D056653|SNOMEDCT:400054000 http://purl.obolibrary.org/obo/MONDO_0043267 vasculitis, rheumatoid|Vasculitides, rheumatoid|rheumatoid Vasculitides|rheumatoid vasculitis gard_rare FOODON:03412409 coelenterate biolink:OntologyClass mondo *Coelenterata* is an obsolete term encompassing the animal phyla *Cnidaria* (coral animals, true jellies, sea anemones, sea pens, and their allies) and *Ctenophora* (comb jellies). [https://en.wikipedia.org/wiki/Coelenterata] http://purl.obolibrary.org/obo/FOODON_03412409 MONDO:0043264 post-traumatic epilepsy biolink:Disease mondo GARD:0007437|SCTID:75023009|MESH:D004834|UMLS:C0751126 Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6) SNOMEDCT:75023009|MESH:D004834|UMLS:C0751126 http://purl.obolibrary.org/obo/MONDO_0043264 Epilepsies, post-traumatic|seizure, late post-traumatic|post-traumatic seizures, early|concussive convulsion|late post traumatic seizures|PTE - post-traumatic epilepsy|impact seizure|convulsions, concussive|epilepsy, post traumatic|late post-traumatic seizure|post-traumatic seizure, late|seizures, early post-traumatic|seizure disorder, post-traumatic|early post traumatic seizures|post-traumatic epilepsy|late post-traumatic seizures|impact seizures|convulsion, concussive|concussive convulsions|seizure disorders, post-traumatic|disorders, post-traumatic seizure|Epilepsies, traumatic|traumatic epilepsy|seizure disorder, post traumatic|early post-traumatic seizures|traumatic Epilepsies|epilepsy, traumatic|disorder, post-traumatic seizure|post traumatic seizure disorder|post-traumatic seizure disorders|seizures, late post-traumatic|post-traumatic Epilepsies|seizure, early post-traumatic|post-traumatic seizure disorder|post-traumatic seizure, early|post-traumatic seizures, late|early post-traumatic seizure gard_rare HGNC:33778 MYMK biolink:OntologyClass mondo http://identifiers.org/hgnc/33778 HP:0040075 Hypopituitarism biolink:PhenotypicFeature mondo UMLS:C0020635|MSH:D007018|SNOMEDCT_US:74728003 http://purl.obolibrary.org/obo/HP_0040075 HP:0040077 obsolete Abnormal concentration of calcium in blood biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0040077 HGNC:18141 DCDC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18141 MONDO:0043275 TORCH syndrome biolink:Disease mondo UMLS:C0270173|GARD:0007781|NCIT:C98609|SCTID:41679006 A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. NCIT:C98609|SNOMEDCT:41679006|UMLS:C0270173 http://purl.obolibrary.org/obo/MONDO_0043275 TORCH infection|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome|torch syndrome|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome|toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome|Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection|TORCH syndrome gard_rare MONDO:0043277 mosaic trisomy 6 biolink:Disease mondo SCTID:205647005|GARD:0007815|NCIT:C36475 Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997). NCIT:C36475|SNOMEDCT:205647005 http://purl.obolibrary.org/obo/MONDO_0043277 trisomy 6 mosaicism|trisomy 6 gard_rare CHEBI:32178 Talc biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_32178 Talc HP:0040084 Abnormal circulating renin biolink:PhenotypicFeature mondo UMLS:C4021038 A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin|Abnormal plasma renin HP:0040088 Abnormal lymphocyte count biolink:PhenotypicFeature mondo UMLS:C0580550|SNOMEDCT_US:165534000 Any abnormality in the total number of lymphocytes in the blood. http://purl.obolibrary.org/obo/HP_0040088 Abnormal numbers of lymphocytes|Abnormal lymphocyte counts|Abnormality of lymphocyte number|Abnormal number of lymphocytes|Abnormal lymphocyte count HGNC:18145 PHF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/18145 MONDO:0018240 TRPV4-related bone disorder biolink:Disease mondo UMLS:CN227290|Orphanet:364820 UMLS:CN227290|ORPHA:364820 http://purl.obolibrary.org/obo/MONDO_0018240 ordo_group_of_disorders MONDO:0021895 temporomandibular joint dysfunction syndrome biolink:Disease mondo UMLS:C0039496|NCIT:C35066|MESH:D013706 A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management. NCIT:C35066|UMLS:C0039496|MESH:D013706 http://purl.obolibrary.org/obo/MONDO_0021895 Temporomandibular Joint Dysfunction Syndrome|Snapping jaw|Temporomandibular Joint Syndrome|Costens Syndrome|Myofascial pain - dysfunction syndrome of TMJ|TMJ Syndrome|Costen's Syndrome|Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint|Temporomandibular joint syndrome|Syndrome, TMJ|Temporomandibular joint-pain-dysfunction syndrome|Costen Syndrome|Temporomandibular joint pain dysfunction syndrome|Costen's complex|Mandibular dysfunction|temporomandibular joint dysfunction syndrome|TMJ syndrome|Joint Syndrome, Temporomandibular|Costen's syndrome|Syndrome, Temporomandibular Joint|Syndrome, Costen's|TMJPDS - Temporomandibular joint pain dysfunction syndrome MONDO:0021896 anterior spinal artery stroke biolink:Disease mondo GARD:0009653|MESH:C537776|UMLS:C2931608 MESH:C537776|UMLS:C2931608 http://purl.obolibrary.org/obo/MONDO_0021896 gard_rare MONDO:0006259 obsolete juvenile xanthogranuloma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006259 MONDO:0006257 jejunal neuroendocrine tumor G1 biolink:Disease mondo EFO:1000308|NCIT:C6429|UMLS:C1334296 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. NCIT:C6429|UMLS:C1334296 http://purl.obolibrary.org/obo/MONDO_0006257 jejunal NET G1|jejunum carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of jejunum|jejunum neuroendocrine tumor, well differentiated, low grade|jejunal carcinoid tumor|jejunum carcinoid tumor|carcinoid tumor of the jejunum|carcinoid tumor of jejunum|jejunum neuroendocrine neoplasm G1|jejunum carcinoid tumor|jejunum NET G1 MONDO:0006258 juvenile polyp biolink:Disease mondo UMLS:C0221273|NCIT:C3826|EFO:1000310 A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. UMLS:C0221273|NCIT:C3826 http://purl.obolibrary.org/obo/MONDO_0006258 juvenile polyp|retention polyp MONDO:0006255 intimal sarcoma biolink:Disease mondo EFO:1000305|NCIT:C53677|UMLS:C1708550|ONCOTREE:INTS A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor. NCIT:C53677|UMLS:C1708550 http://purl.obolibrary.org/obo/MONDO_0006255 INTS MONDO:0006256 invasive breast carcinoma biolink:Disease mondo ONCOTREE:BRCA|SCTID:713609000|EFO:1000307|NCIT:C9245|UMLS:C0853879 A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women. UMLS:C0853879|SNOMEDCT:713609000|NCIT:C9245 http://purl.obolibrary.org/obo/MONDO_0006256 infiltrating breast carcinoma|invasive carcinoma of breast|invasive carcinoma of the breast|invasive mammary carcinoma|invasive breast cancer|invasive breast carcinoma|BRCA|infiltrating carcinoma of breast|infiltrating carcinoma of the breast|infiltrating breast cancer MONDO:0006253 obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006253 MONDO:0006254 intestinal type adenocarcinoma biolink:Disease mondo ICDO:8144/3|UMLS:C0334279|EFO:1000304|NCIT:C4126 An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas. NCIT:C4126|UMLS:C0334279 http://purl.obolibrary.org/obo/MONDO_0006254 intestinal type carcinoma|intestinal-type adenocarcinoma MONDO:0006251 inclusion body fibromatosis (disease) biolink:Disease mondo HP:0025197|EFO:1000301|NCIT:C3456 A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions. NCIT:C3456 http://purl.obolibrary.org/obo/MONDO_0006251 inclusion body fibromatosis|infantile digital fibromatosis|Reye tumor|infantile digital fibroma/fibromatosis|Reye's tumor|digital fibrous tumor of Reye MONDO:0006252 obsolete infiltrating bladder lymphoepithelioma-like carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006252 GO:0045916 negative regulation of complement activation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation. http://purl.obolibrary.org/obo/GO_0045916 down-regulation of complement activation|down regulation of complement activation|downregulation of complement activation|inhibition of complement activation|negative regulation of complement cascade MONDO:0006250 ileal neuroendocrine tumor G1 biolink:Disease mondo EFO:1000300|NCIT:C4935|ICD9:209.03|UMLS:C0745216|SCTID:425318003 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. SNOMEDCT:425318003|NCIT:C4935|UMLS:C0745216 http://purl.obolibrary.org/obo/MONDO_0006250 ileum neuroendocrine neoplasm G1|ileal neuroendocrine tumor G1|ileum carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of ileum|ileum NET G1|ileal carcinoid tumor|ileum carcinoid tumor|ileum neuroendocrine tumor, well differentiated, low grade|ileal NET G1|carcinoid tumor of the ileum|carcinoid tumor of ileum|ileum carcinoid tumor GO:0045917 positive regulation of complement activation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of complement activation. http://purl.obolibrary.org/obo/GO_0045917 activation of complement activation|positive regulation of complement cascade|stimulation of complement activation|upregulation of complement activation|up-regulation of complement activation|up regulation of complement activation GO:0045914 negative regulation of catecholamine metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. http://purl.obolibrary.org/obo/GO_0045914 down regulation of catecholamine metabolic process|negative regulation of catecholamine metabolism|downregulation of catecholamine metabolic process|inhibition of catecholamine metabolic process|down-regulation of catecholamine metabolic process GO:0045915 positive regulation of catecholamine metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. http://purl.obolibrary.org/obo/GO_0045915 up-regulation of catecholamine metabolic process|positive regulation of catecholamine metabolism|up regulation of catecholamine metabolic process|activation of catecholamine metabolic process|stimulation of catecholamine metabolic process|upregulation of catecholamine metabolic process GO:0045912 negative regulation of carbohydrate metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. http://purl.obolibrary.org/obo/GO_0045912 inhibition of carbohydrate metabolic process|down-regulation of carbohydrate metabolic process|downregulation of carbohydrate metabolic process|negative regulation of carbohydrate metabolism|down regulation of carbohydrate metabolic process GO:0045913 positive regulation of carbohydrate metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. http://purl.obolibrary.org/obo/GO_0045913 upregulation of carbohydrate metabolic process|up regulation of carbohydrate metabolic process|stimulation of carbohydrate metabolic process|positive regulation of carbohydrate metabolism|up-regulation of carbohydrate metabolic process|activation of carbohydrate metabolic process MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome biolink:Disease mondo ICD10:Q87.2|Orphanet:369979|UMLS:CN204822 ORPHA:369979|UMLS:CN204822 http://purl.obolibrary.org/obo/MONDO_0018249 ordo_malformation_syndrome GO:0045910 negative regulation of DNA recombination biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. http://purl.obolibrary.org/obo/GO_0045910 down regulation of DNA recombination|inhibition of DNA recombination|downregulation of DNA recombination|down-regulation of DNA recombination HGNC:18119 SPATA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/18119 GO:0045911 positive regulation of DNA recombination biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of DNA recombination. http://purl.obolibrary.org/obo/GO_0045911 up-regulation of DNA recombination|up regulation of DNA recombination|activation of DNA recombination|stimulation of DNA recombination|upregulation of DNA recombination MONDO:0018246 homozygous 2p21 microdeletion syndrome biolink:Disease mondo Orphanet:369886|UMLS:CN204808|ICD10:Q93.5 ORPHA:369886|UMLS:CN204808 http://purl.obolibrary.org/obo/MONDO_0018246 2p21 contiguous gene deletion syndrome ordo_group_of_disorders MONDO:0018245 2p21 microdeletion syndrome without cystinuria biolink:Disease mondo ICD10:Q93.5|UMLS:CN204807|Orphanet:369881 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. ORPHA:369881|UMLS:CN204807 http://purl.obolibrary.org/obo/MONDO_0018245 Del(2)(p21) without cystinuria ordo_malformation_syndrome MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome biolink:Disease mondo Orphanet:369950|UMLS:CN204818|ICD10:Q87.8 Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. ORPHA:369950|UMLS:CN204818 http://purl.obolibrary.org/obo/MONDO_0018248 Der(8)t(8;12) ordo_disease MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type biolink:Disease mondo OMIMPS:220110 http://purl.obolibrary.org/obo/MONDO_0033885 MONDO:0018247 CADDS biolink:Disease mondo Orphanet:369942|ICD10:Q87.8|UMLS:CN180200|GARD:0012472 ORPHA:369942|UMLS:CN180200 http://purl.obolibrary.org/obo/MONDO_0018247 contiguous ABCD1 DXS1357E deletion syndrome|Zellweger-like contiguous gene deletion syndrome ordo_disease MONDO:0018242 autoimmune hypoparathyroidism (disease) biolink:Disease mondo SCTID:75316000|HP:0011771|ICD10:E20.8|UMLS:C0271865|Orphanet:36913 An autoimmune form of hypoparathyroidism. ORPHA:36913|UMLS:C0271865|SNOMEDCT:75316000 http://purl.obolibrary.org/obo/MONDO_0018242 autoimmune hypoparathyroidism ordo_disease MONDO:0018241 primary short bowel syndrome biolink:Disease mondo UMLS:CN204780|ICD10:Q41.0|Orphanet:365563 UMLS:CN204780|ORPHA:365563 http://purl.obolibrary.org/obo/MONDO_0018241 ordo_group_of_disorders MONDO:0018244 obesity due to SIM1 deficiency biolink:Disease mondo Orphanet:369873|ICD10:E66.8 ORPHA:369873 http://purl.obolibrary.org/obo/MONDO_0018244 ordo_disease HGNC:18111 CCDC50 biolink:OntologyClass mondo http://identifiers.org/hgnc/18111 MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome biolink:Disease mondo UMLS:CN204803|Orphanet:369847|ICD10:G71.0 ORPHA:369847|UMLS:CN204803 http://purl.obolibrary.org/obo/MONDO_0018243 ordo_disease HGNC:18121 MFRP biolink:OntologyClass mondo http://identifiers.org/hgnc/18121 MONDO:0006268 liver diffuse large B-cell lymphoma biolink:Disease mondo UMLS:C2184126|NCIT:C96843|EFO:1000323 A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver. UMLS:C2184126|NCIT:C96843 http://purl.obolibrary.org/obo/MONDO_0006268 hepatic diffuse large B-cell lymphoma|liver diffuse large B-cell lymphoma|primary liver diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of liver|primary hepatic diffuse large B-cell lymphoma MONDO:0006269 obsolete liver inflammatory myofibroblastic tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006269 MONDO:0006266 Leydig cell tumor biolink:Disease mondo ICDO:8650/1|MESH:D007984|NCIT:C3188|UMLS:C0023601|EFO:1000321|DOID:2696 A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course. MESH:D007984|DOID:2696|UMLS:C0023601|NCIT:C3188 http://purl.obolibrary.org/obo/MONDO_0006266 interstitial cell neoplasm|Leydig cell tumor|interstitial cell neoplasm|Leydig cell tumor, undetermined|interstitial cell tumor|Leydig cell neoplasm MONDO:0006267 liver cavernous hemangioma biolink:Disease mondo EFO:1000322|NCIT:C96839|UMLS:C3282904 A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females. UMLS:C3282904|NCIT:C96839 http://purl.obolibrary.org/obo/MONDO_0006267 cavernous hemangioma of liver|liver cavernous hemangioma MONDO:0006264 laryngeal adenoid cystic carcinoma biolink:Disease mondo EFO:1000319|NCIT:C9462|DOID:4869|UMLS:C1334368 A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases. UMLS:C1334368|NCIT:C9462|DOID:4869 http://purl.obolibrary.org/obo/MONDO_0006264 laryngeal adenoid cystic carcinoma|laryngeal throat adenoid cystic cancer|adenoid cystic carcinoma of larynx|adenoid cystic carcinoma of the larynx MONDO:0006265 laryngeal small cell carcinoma biolink:Disease mondo DOID:7144|UMLS:C1334378|EFO:1000320|NCIT:C6025 A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course. DOID:7144|UMLS:C1334378|NCIT:C6025 http://purl.obolibrary.org/obo/MONDO_0006265 laryngeal small cell carcinoma|laryngeal throat small cell cancer|larynx small cell carcinoma|small cell carcinoma of the larynx|small cell carcinoma of larynx MONDO:0006262 lacrimal gland adenoid cystic carcinoma biolink:Disease mondo NCIT:C4540|EFO:1000317|UMLS:C0346340|DOID:4870|SCTID:254987003 A adenoid cystic carcinoma that involves the lacrimal gland. SNOMEDCT:254987003|NCIT:C4540|UMLS:C0346340|DOID:4870 http://purl.obolibrary.org/obo/MONDO_0006262 adenoid cystic carcinoma of lacrimal gland|lacrimal gland adenoid cystic carcinoma|adenoid cystic carcinoma of the lacrimal gland MONDO:0006263 obsolete Langerhans cell histiocytosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006263 MONDO:0006260 kidney medullary carcinoma biolink:Disease mondo ICD10:C64|UMLS:CN203938|ONCOTREE:MRC|NCIT:C7572|EFO:1000314|GARD:0013175|Orphanet:319319|MedDRA:10064886 A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. ORPHA:319319|UMLS:CN203938|MEDDRA:10064886|NCIT:C7572 http://purl.obolibrary.org/obo/MONDO_0006260 renal medullary carcinoma|carcinoma of renal medulla|renal medulla carcinoma|kidney medullary carcinoma ordo_disease MONDO:0043209 albinism biolink:Disease mondo MESH:D000417|NCIT:C84543|UMLS:C0001916|GARD:0005768|SCTID:15890002|ICD10:E70.3 A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. SNOMEDCT:15890002|NCIT:C84543|MESH:D000417|UMLS:C0001916 http://purl.obolibrary.org/obo/MONDO_0043209 albinism gard_rare MONDO:0006261 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006261 MONDO:0043206 trichostasis spinulosa biolink:Disease mondo UMLS:C0263487|SCTID:21049007|MESH:C536558|GARD:0005269 Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown. SNOMEDCT:21049007|MESH:C536558|UMLS:C0263487 http://purl.obolibrary.org/obo/MONDO_0043206 trichostasis spinulosa|elevated dark spiny papules on the face or trunk gard_rare GO:0045923 positive regulation of fatty acid metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. http://purl.obolibrary.org/obo/GO_0045923 positive regulation of fatty acid metabolism|upregulation of fatty acid metabolic process|up regulation of fatty acid metabolic process|stimulation of fatty acid metabolic process|activation of fatty acid metabolic process|up-regulation of fatty acid metabolic process MONDO:0018239 aggrecan-related bone disorder biolink:Disease mondo UMLS:CN227289|Orphanet:364817 UMLS:CN227289|ORPHA:364817 http://purl.obolibrary.org/obo/MONDO_0018239 ordo_group_of_disorders MONDO:0018238 obsolete rare bone disease related to a common gene or pathway defect biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018238 GO:0045922 negative regulation of fatty acid metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. http://purl.obolibrary.org/obo/GO_0045922 inhibition of fatty acid metabolic process|down-regulation of fatty acid metabolic process|negative regulation of fatty acid metabolism|downregulation of fatty acid metabolic process|down regulation of fatty acid metabolic process MONDO:0043207 urethral obstruction sequence biolink:Disease mondo UMLS:C0265363|SCTID:18241005|GARD:0005428|MESH:C536477 SNOMEDCT:18241005|UMLS:C0265363|MESH:C536477 http://purl.obolibrary.org/obo/MONDO_0043207 early urethral obstruction sequence|EUOS|renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction gard_rare HP:0003074 Hyperglycemia biolink:PhenotypicFeature mondo UMLS:C0020456|MSH:D006943|SNOMEDCT_US:80394007|SNOMEDCT_US:237598005 An increased concentration of glucose in the blood. http://purl.obolibrary.org/obo/HP_0003074 High blood sugar|High blood glucose MONDO:0018235 dysostosis with limb anomaly as a major feature biolink:Disease mondo Orphanet:364568 ORPHA:364568 http://purl.obolibrary.org/obo/MONDO_0018235 ordo_group_of_disorders|obsoletion_candidate MONDO:0018234 dysostosis biolink:Disease mondo NCIT:C34560|DOID:1934|UMLS:C0013393|SCTID:109420003|Orphanet:364559|ICD9:756.9|MESH:D004413 A disorder of the development of bone in which ossification is affected. MESH:D004413|DOID:1934|ORPHA:364559|UMLS:C0013393|SNOMEDCT:109420003|NCIT:C34560 http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis ordo_group_of_disorders HP:0003073 Hypoalbuminemia biolink:PhenotypicFeature mondo MSH:D034141|SNOMEDCT_US:119247004|UMLS:C0239981 Reduction in the concentration of albumin in the blood. http://purl.obolibrary.org/obo/HP_0003073 Hypoalbuminaemia|Low blood albumin|Low albumin HGNC:18129 GHRL biolink:OntologyClass mondo http://identifiers.org/hgnc/18129 HP:0003072 Hypercalcemia biolink:PhenotypicFeature mondo SNOMEDCT_US:66931009|SNOMEDCT_US:166702002|UMLS:C0020437|MSH:D006934 An abnormally increased calcium concentration in the blood. http://purl.obolibrary.org/obo/HP_0003072 High blood calcium levels|Hypercalcaemia|Increased calcium in blood MONDO:0018237 acrofacial dysostosis biolink:Disease mondo Orphanet:364574|UMLS:C1332140|NCIT:C35795|DOID:0060379 DOID:0060379|ORPHA:364574|UMLS:C1332140|NCIT:C35795 http://purl.obolibrary.org/obo/MONDO_0018237 ordo_group_of_disorders MONDO:0021879 small cell variant anaplastic large cell lymphoma biolink:Disease mondo MESH:C538255|GARD:0009477|NCIT:C7208|UMLS:C1335983 A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei. UMLS:C1335983|MESH:C538255|NCIT:C7208 http://purl.obolibrary.org/obo/MONDO_0021879 anaplastic small cell lymphoma|small cell variant anaplastic large cell lymphoma|small cell variant of anaplastic large cell lymphoma gard_rare MONDO:0018236 dysostosis with limb and face anomalies as a major feature biolink:Disease mondo Orphanet:364571 ORPHA:364571 http://purl.obolibrary.org/obo/MONDO_0018236 ordo_group_of_disorders|obsoletion_candidate HGNC:18127 TUBGCP6 biolink:OntologyClass mondo http://identifiers.org/hgnc/18127 MONDO:0018231 primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments biolink:Disease mondo Orphanet:364531 ORPHA:364531 http://purl.obolibrary.org/obo/MONDO_0018231 primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments|primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments ordo_group_of_disorders HGNC:18124 P2RY12 biolink:OntologyClass mondo http://identifiers.org/hgnc/18124 MONDO:0018230 primary bone dysplasia biolink:Disease mondo Orphanet:364526 ORPHA:364526 http://purl.obolibrary.org/obo/MONDO_0018230 primary skeletal dysplasia|primary osteodysplasia ordo_group_of_disorders HP:0003077 Hyperlipidemia biolink:PhenotypicFeature mondo UMLS:C0020473|MSH:D006949|SNOMEDCT_US:55822004 An elevated lipid concentration in the blood. http://purl.obolibrary.org/obo/HP_0003077 Elevated lipids in blood MONDO:0018233 otopalatodigital syndrome spectrum disorder biolink:Disease mondo Orphanet:364541|UMLS:C2748918 Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. UMLS:C2748918|ORPHA:364541 http://purl.obolibrary.org/obo/MONDO_0018233 OPSD|OPD spectrum disorder ordo_group_of_disorders HP:0003076 Glycosuria biolink:PhenotypicFeature mondo UMLS:C0017979|MSH:D006029|SNOMEDCT_US:45154002 An increased concentration of glucose in the urine. http://purl.obolibrary.org/obo/HP_0003076 Glucosuria|Glucose in urine HGNC:18122 SOX17 biolink:OntologyClass mondo http://identifiers.org/hgnc/18122 MONDO:0018232 primary bone dysplasia with micromelia biolink:Disease mondo Orphanet:364536 ORPHA:364536 http://purl.obolibrary.org/obo/MONDO_0018232 primary skeletal dysplasia with micromelia|primary osteodysplasia with micromelia ordo_group_of_disorders MONDO:0006239 head and neck paraganglioma biolink:Disease mondo EFO:1000288|UMLS:C1333944|NCIT:C5327 A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas. UMLS:C1333944|NCIT:C5327 http://purl.obolibrary.org/obo/MONDO_0006239 paraganglioma of the head and neck|paraganglioma of head and neck|head and neck paraganglioma|craniocervical region paraganglioma|paraganglioma of craniocervical region MONDO:0006237 granulocytic sarcoma biolink:Disease mondo NCIT:C35815|EFO:1000286 A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001) NCIT:C35815 http://purl.obolibrary.org/obo/MONDO_0006237 granulocytic sarcoma|sarcoma, granulocytic, malignant MONDO:0006238 growth hormone-producing pituitary gland adenoma biolink:Disease mondo NCIT:C7461|EFO:1000287|ICD10:E22.0|EFO:0004125|SCTID:254957009|Orphanet:96256|DOID:6255|ICD10:D35.2 An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly. ORPHA:96256|NCIT:C7461|SNOMEDCT:254957009|DOID:6255 http://purl.obolibrary.org/obo/MONDO_0006238 growth hormone-producing adenoma|growth hormone producing pituitary adenoma|somatotrope adenoma|Somatotrophinoma|growth hormone secreting adenoma of pituitary|somatotroph adenoma|growth hormone producing adenoma of the pituitary gland|growth hormone producing adenoma of pituitary gland|growth hormone producing adenoma of pituitary|growth hormone secreting adenoma of the pituitary gland|growth hormone secreting pituitary gland adenoma|growth hormone secreting adenoma of pituitary gland|GH cell adenoma|growth hormone-producing pituitary gland adenoma|growth hormone secreting pituitary adenoma|growth hormone secreting adenoma of the pituitary|growth hormone producing adenoma of the pituitary|growth hormone producing pituitary gland adenoma|somatotropic adenoma ordo_group_of_disorders MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 biolink:Disease mondo ICD10:Q87.1|MESH:C567138|GARD:0001068|SCTID:720603002|OMIM:211920|Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. ORPHA:1326|MESH:C537971|SNOMEDCT:720603002|UMLS:C2931680|http://identifiers.org/omim/211920|MESH:C567138 http://purl.obolibrary.org/obo/MONDO_0008899 camptodactyly syndrome, Guadalajara, type II|Guadalajara camptodactyly syndrome type II|camptodactyly syndrome Guadalajara type 2|camptodactyly syndrome, Guadalajara, type 2 ordo_malformation_syndrome|gard_rare MONDO:0043224 multi-infarct dementia biolink:Disease mondo NCIT:C34522|GARD:0005925|SCTID:56267009|MESH:D015161 A common form of dementia caused by multiple cortical or subcortical cerebral infarctions. NCIT:C34522|SNOMEDCT:56267009|MESH:D015161 http://purl.obolibrary.org/obo/MONDO_0043224 Multiinfarct Dementias|dementia, Multiinfarct|lacunar Dementias|multi infarct dementia|dementia multi infarct|arteriosclerotic dementia|dementia, multi infarct|multi-infarcts, dementia|Dementias, multi-infarct|lacunar dementia|Binswanger disease|multi-infarct dementia|dementia multi-infarcts|dementia, lacunar|Multiinfarct dementia|multi-infarct Dementias|Binswanger's disease|multi-infarct, dementia|Dementias, Multiinfarct|dementia multi-infarct|Dementias, lacunar gard_rare MONDO:0006235 granular cell tumor biolink:Disease mondo MESH:C535558|ONCOTREE:GCT|GARD:0009618|DOID:2411|ICD9:215.9|UMLS:C0085167|SCTID:404035005|EFO:1000284|NCIT:C3474|ICDO:9580/0|MESH:D016586 An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast. MESH:C535558|DOID:2411|SNOMEDCT:404035005|MESH:D016586|NCIT:C3474|UMLS:C0085167 http://purl.obolibrary.org/obo/MONDO_0006235 granular cell tumor (morphologic abnormality)|neoplasm of granular cell|granular cell neoplasm|Abrikosov's tumor|giant granulocellular Abrikosov's tumor|Abrikosov’s tumor|Abrikossoff tumor|granular cell tumor|granular cell myoblastoma|granular cell schwannoma|Abrikosoff's tumor|Abrikossoff's tumor|granular cell tumor NOS (morphologic abnormality)|Abrikosoff's granulous cell tumor|GCT|malignant variant of Abrikosov's tumor|granular cell nerve sheath tumor gard_rare GO:0045930 negative regulation of mitotic cell cycle biolink:OntologyClass mondo Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. http://purl.obolibrary.org/obo/GO_0045930 negative regulation of progression through mitotic cell cycle|down-regulation of progression through mitotic cell cycle|negative regulation of mitotic cell cycle progression|downregulation of progression through mitotic cell cycle|down regulation of progression through mitotic cell cycle|inhibition of progression through mitotic cell cycle MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 biolink:Disease mondo ICD10:Q87.1|UMLS:C1859359|MESH:C537970|OMIM:211910|GARD:0001067|Orphanet:1327|SCTID:720602007 Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. MESH:C537970|SNOMEDCT:720602007|UMLS:C2931679|http://identifiers.org/omim/211910|UMLS:C1859359|ORPHA:1327 http://purl.obolibrary.org/obo/MONDO_0008898 camptodactyly syndrome, Guadalajara, type 1|faciothoracoskeletal syndrome|GCS1|camptodactyly syndrome, Guadalajara, type I; GCS1|camptodactyly syndrome Guadalajara type 1|FTSS|GCS 1|camptodactyly syndrome, Guadalajara, type I ordo_malformation_syndrome|gard_rare MONDO:0008897 hyperphosphatemic familial tumoral calcinosis biolink:Disease mondo UMLS:C1876187|NCIT:C131851|GARD:0010879|Orphanet:306661|OMIM:211900|ICD10:M11.2|DOID:0111063 Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved. DOID:0111063|NCIT:C131851|UMLS:C1876187|http://identifiers.org/omim/211900|ORPHA:306661 http://purl.obolibrary.org/obo/MONDO_0008897 HFTC|tumoral calcinosis, hyperphosphatemic, familial|hyperphosphatemia hyperostosis syndrome|hyperostosis with hyperphosphatemia|Morbus Teutschlaender|calcinosis, tumoral, with hyperphosphatemia|familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome|hyperphosphatemia hyperostosis|HHS|PHPTC|Teutschlaender disease, familial|HFTC1|hyperostosis-hyperphosphatemia syndrome|tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1; HFTC1|tumoral calcinosis, hyperphosphatemic, familial; HFTC|hyperphosphatemia tumoral calcinosis|tumoral calcinosis with hyperphosphatemia|tumoral calcinosis, Hyperphosphatemic, familial, 1|morbus Teutschlaender|cortical hyperostosis with hyperphosphatemia|tumoral calcinosis, primary Hyperphosphatemic|hypercalcemic tumoral calcinosis|familial Teutschlaender disease|primary hyperphosphatemic tumoral calcinosis|lipocalcinogranulomatosis ordo_clinical_subtype GO:0045931 positive regulation of mitotic cell cycle biolink:OntologyClass mondo Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. http://purl.obolibrary.org/obo/GO_0045931 upregulation of progression through mitotic cell cycle|positive regulation of progression through mitotic cell cycle|up regulation of progression through mitotic cell cycle|stimulation of progression through mitotic cell cycle|up-regulation of progression through mitotic cell cycle|positive regulation of mitotic cell cycle progression|activation of progression through mitotic cell cycle MONDO:0006236 obsolete granular cell tumor of the neurohypophysis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006236 MONDO:0008896 campomelia, Cumming type biolink:Disease mondo UMLS:C1859371|GARD:0001061|MESH:C537966|ICD10:Q87.8|OMIM:211890|SCTID:720599002|Orphanet:1318 Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. MESH:C537966|http://identifiers.org/omim/211890|UMLS:C1859371|SNOMEDCT:720599002|ORPHA:1318 http://purl.obolibrary.org/obo/MONDO_0008896 campomelia Cumming type|cervical lymphocele with bowed long bones|Cumming syndrome|campomelia, Cumming type|campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys gard_rare|ordo_malformation_syndrome MONDO:0043226 postpartum amenorrhea-galactorrhea syndrome biolink:Disease mondo SCTID:85039006|MESH:D002640|GARD:0006037|EFO:1001291 MESH:D002640|SNOMEDCT:85039006 http://purl.obolibrary.org/obo/MONDO_0043226 postpartum amenorrhoea-galactorrhea syndrome|persistent postpartum amenorrhea-galactorrhea syndrome|disease, Frommel|postpartum amenorrhea-galactorrhea syndrome|Frommel disease|syndrome, Chiari-Frommel|Chiari-frommel syndrome|disease, Frommel's|Chiari Frommel syndrome|Frommel's disease gard_rare MONDO:0006233 gonadal teratoma biolink:Disease mondo NCIT:C98291|EFO:1000282|UMLS:C3273942 A teratoma that arises from the testis or ovary. NCIT:C98291|UMLS:C3273942 http://purl.obolibrary.org/obo/MONDO_0006233 teratoma, gonads|gonadal teratoma MONDO:0006234 grade III prostatic intraepithelial neoplasia biolink:Disease mondo ICD9:233.4|ICD10:D07.5|DOID:8634|EFO:1000283|COHD:200970|UMLS:C0154088|NCIT:C3642|SCTID:92691004 High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities. UMLS:C0154088|SNOMEDCT:92691004|DOID:8634|NCIT:C3642 http://purl.obolibrary.org/obo/MONDO_0006234 stage 0 prostate gland carcinoma|carcinoma in situ of prostate|pin III|prostate gland in situ carcinoma|carcinoma in situ of prostate gland|grade III pin|grade 3 pin|prostate carcinoma in situ|prostate gland carcinoma in situ|grade 3 prostatic intraepithelial neoplasia|adenocarcinoma in situ of prostate|prostate adenocarcinoma in situ|adenocarcinoma in situ of the prostate MONDO:0008895 hereditary arterial and articular multiple calcification syndrome biolink:Disease mondo GARD:0010762|OMIM:211800|SCTID:718602007|MESH:C565891|UMLS:C4305347|UMLS:C1859372|Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. MESH:C565891|ORPHA:289601|http://identifiers.org/omim/211800|UMLS:C1859372|SNOMEDCT:718602007|UMLS:C4305347 http://purl.obolibrary.org/obo/MONDO_0008895 arterial calcification due to CD73 deficiency|CALJA|ACDC|calcification of joints and arteries; CALJA|arterial calcification and distal joint calcification|arterial calcification due to deficiency of Cd73|calcification of joints and arteries ordo_disease MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C0796282|Orphanet:1375|OMIM:211770|MESH:C537959|SCTID:722379001 Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait. MESH:C537959|http://identifiers.org/omim/211770|SNOMEDCT:722379001|UMLS:C0796282|ORPHA:1375 http://purl.obolibrary.org/obo/MONDO_0008894 cataract, hypertrichosis, mental retardation syndrome|cataract, hypertrichosis, intellectual disability syndrome|CAHMR syndrome ordo_malformation_syndrome MONDO:0006231 gastrointestinal hamartoma biolink:Disease mondo NCIT:C96475|EFO:1000280|UMLS:C3272802 A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps. NCIT:C96475|UMLS:C3272802 http://purl.obolibrary.org/obo/MONDO_0006231 gastrointestinal hamartoma MONDO:0008893 C syndrome biolink:Disease mondo Orphanet:1308|OMIM:211750|ICD10:Q87.8|UMLS:C0796095|SCTID:715409005|MESH:C537418|GARD:0005978 C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. http://identifiers.org/omim/211750|UMLS:C0796095|SNOMEDCT:715409005|ORPHA:1308|MESH:C537418 http://purl.obolibrary.org/obo/MONDO_0008893 OTCS|C syndrome|trigonocephaly syndrome|Opitz trigonocephaly syndrome|Opitz C trigonocephaly|trigonocephaly C syndrome|Opitz trigonocephaly C syndrome gard_rare|ordo_malformation_syndrome MONDO:0006232 giant cell tumor of soft tissue biolink:Disease mondo NCIT:C49107|EFO:1000281|UMLS:C0334553|ICDO:9251/1 A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes. NCIT:C49107|UMLS:C0334553 http://purl.obolibrary.org/obo/MONDO_0006232 GCT-ST|giant cell tumor of soft tissue|Osteoclastoma of soft tissue MONDO:0008892 progressive familial intrahepatic cholestasis type 1 biolink:Disease mondo GARD:0009802|OMIM:211600|UMLS:CN205891|ICD10:K76.8|Orphanet:79306|DOID:0070226 PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. ORPHA:79306|MESH:C535933|http://identifiers.org/omim/211600|UMLS:CN205891|DOID:0070226 http://purl.obolibrary.org/obo/MONDO_0008892 cholestasis, progressive familial intrahepatic, 1|severe ATP8B1 deficiency|cholestasis, fatal intrahepatic|Byler disease|cholestasis, progressive familial intrahepatic, 1; PFIC1|progressive familial intrahepatic cholestasis|FIC1 deficiency|Byler's disease|PFIC1|cholestasis, progressive familial intrahepatic, type 1 ordo_clinical_subtype|gard_rare MONDO:0006230 gastric squamous cell carcinoma biolink:Disease mondo ICD10:C16.2|UMLS:C1333789|Orphanet:418959|ICD10:C16.1|SCTID:766980008|ICD10:C16.0|UMLS:CN237470|NCIT:C5475|ICD10:C16.8|DOID:5516|ICD10:C16.5|EFO:1000278|ICD10:C16.4|ICD10:C16.3 A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body. UMLS:CN237470|ORPHA:418959|NCIT:C5475|SNOMEDCT:766980008|UMLS:C1333789|DOID:5516 http://purl.obolibrary.org/obo/MONDO_0006230 gastric (stomach) squamous cell cancer|squamous cell carcinoma of stomach|squamous cell carcinoma of the stomach|gastric squamous cell carcinoma|stomach squamous cell carcinoma ordo_disease MONDO:0008891 riboflavin transporter deficiency biolink:Disease mondo MESH:C537111|DOID:0050694|ICD10:G12.1|GARD:0009993|Orphanet:97229|OMIMPS:211530|SCTID:699866005 Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy. SNOMEDCT:699866005|UMLS:C0796274|MESH:C537111|ORPHA:97229|DOID:0050694 http://purl.obolibrary.org/obo/MONDO_0008891 disorder of riboflavin transmembrane transporter activity|disorder of riboflavin transmembrane transporter activity|BVVLS|Brown-Vialetto-Van Laere syndrome 1|progressive bulbar palsy with sensorineural deafness|riboflavin transmembrane transporter activity disease|pontobulbar palsy and neurosensory deafness|Brown-Vialetto-van Laere syndrome|BVVLS1|sensorineural hearing loss-pontobulbar palsy syndrome|Fazio-Londe syndrome ordo_malformation_syndrome MONDO:0008890 progressive bulbar palsy biolink:Disease mondo EFO:0003783|ICD10:G12.22|GARD:0010928|DOID:681|OMIM:211500|COHD:436684|NCIT:C85026|UMLS:C0030442|MESH:D010244|Orphanet:56965|SCTID:54304004|ICD9:335.22 Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms. NCIT:C85026|MESH:D010244|SNOMEDCT:54304004|http://identifiers.org/omim/211500|UMLS:C0030442|DOID:681|ORPHA:56965 http://purl.obolibrary.org/obo/MONDO_0008890 progressive bulbar atrophy|Fazio-Londe disease|bulbar palsy, progressive, of childhood gard_rare GO:0045938 positive regulation of circadian sleep/wake cycle, sleep biolink:OntologyClass mondo Any process that activates or increases the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. http://purl.obolibrary.org/obo/GO_0045938 activation of circadian sleep/wake cycle, sleep|stimulation of circadian sleep/wake cycle, sleep|upregulation of circadian sleep/wake cycle, sleep|positive regulation of sleep|up-regulation of circadian sleep/wake cycle, sleep|up regulation of circadian sleep/wake cycle, sleep GO:0045939 negative regulation of steroid metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving steroids. http://purl.obolibrary.org/obo/GO_0045939 down-regulation of steroid metabolic process|down regulation of steroid metabolic process|negative regulation of steroid metabolism|inhibition of steroid metabolic process|downregulation of steroid metabolic process GO:0045936 negative regulation of phosphate metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/GO_0045936 down regulation of phosphate metabolic process|downregulation of phosphate metabolic process|inhibition of phosphate metabolic process|negative regulation of phosphate metabolism|down-regulation of phosphate metabolic process GO:0045937 positive regulation of phosphate metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/GO_0045937 upregulation of phosphate metabolic process|up-regulation of phosphate metabolic process|up regulation of phosphate metabolic process|activation of phosphate metabolic process|stimulation of phosphate metabolic process|positive regulation of phosphate metabolism GO:0045934 negative regulation of nucleobase-containing compound metabolic process biolink:OntologyClass mondo Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0045934 inhibition of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|downregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process MONDO:0018228 bipartite talus biolink:Disease mondo ICD10:Q66.8|Orphanet:364198|UMLS:CN227287|SCTID:763128009 Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. SNOMEDCT:763128009|ORPHA:364198|UMLS:CN227287 http://purl.obolibrary.org/obo/MONDO_0018228 ordo_morphological_anomaly MONDO:0018227 hypocomplementemic urticarial vasculitis biolink:Disease mondo GARD:0006725|UMLS:C0343206|Orphanet:36412|ICD10:M31.8|SCTID:239945009|UMLS:CN204757 Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. UMLS:C0343206|SNOMEDCT:239945009|ORPHA:36412|UMLS:CN204757 http://purl.obolibrary.org/obo/MONDO_0018227 Mac Duffie hypocomplementemic urticarial vasculitis|anti-C1q vasculitis|McDuffie syndrome|McDuffie hypocomplementemic urticarial vasculitis|Mac Duffie syndrome gard_rare|ordo_disease GO:0045935 positive regulation of nucleobase-containing compound metabolic process biolink:OntologyClass mondo Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0045935 up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|up regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|activation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|stimulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|upregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process MONDO:0043219 migraine with brainstem aura biolink:Disease mondo SCTID:83351003|NCIT:C117013|GARD:0005896 A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem. NCIT:C117013|SNOMEDCT:83351003 http://purl.obolibrary.org/obo/MONDO_0043219 vertebrobasilar migraine|MBA|brainstem migraine|bickerstaff's migraine|basilar artery migraine with aura|basilar-type migraine|basilar artery migraine|basilar migraine|Bickerstaff migraine gard_rare MONDO:0018229 Stevens-Johnson syndrome biolink:Disease mondo MedDRA:10042033|GARD:0007700|COHD:141651|SCTID:73442001|NCIT:C79484|ICD10:L51.1|OMIM:608579|Orphanet:36426|UMLS:C0038325|MESH:D013262|ICD9:695.12|ICD9:695.13|EFO:0004276|DOID:0050426|ICD10:L51.2|ICD9:695.15 Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. MESH:D013262|http://identifiers.org/omim/608579|UMLS:C0038325|DOID:0050426|ORPHA:36426|MEDDRA:10042033|NCIT:C79484|SNOMEDCT:73442001 http://purl.obolibrary.org/obo/MONDO_0018229 Stevens Johnson syndrome|toxic Epidermal necrolysis, susceptibility to|severe cutaneous adverse reaction, susceptibility to|hypersensitivity syndrome, carbamazepine-induced, susceptibility to|Stevens-Johnson syndrome, susceptibility to|Dermatostomatitis, Stevens Johnson type|erythema multiforme Major ordo_clinical_subtype MONDO:0043218 neurovascular disease biolink:Disease mondo UMLS:C3898144|NCIT:C117007 A disorder of the nervous system related to a vascular etiology. NCIT:C117007|UMLS:C3898144 http://purl.obolibrary.org/obo/MONDO_0043218 nervous system disorder of vasculature|disease of nervous system vasculature|vasculature nervous system disorder|neurovascular disorder MONDO:0018224 hydroa vacciniforme-like lymphoma biolink:Disease mondo ICDO:9725/3|NCIT:C45327|UMLS:C1708397|SCTID:763719001|ICD10:C84.5|Orphanet:364039 A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin. NCIT:C45327|SNOMEDCT:763719001|ORPHA:364039|UMLS:C1708397 http://purl.obolibrary.org/obo/MONDO_0018224 HVLL|angiocentric cutaneous T-cell lymphoma of childhood|hV-like lymphoma|hydroa vacciniforme-like cutaneous T-cell lymphoma|hydroa-like cutaneous T-cell lymphoma|hydroa vacciniforme-like lymphoma|hydroa vacciniforme-like lymphoproliferative disorder ordo_disease MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood biolink:Disease mondo UMLS:CN204753|ICD10:D47.9|Orphanet:364033|ICDO:9724/3|SCTID:721311006|ICD10CM:D47.9|ORDO:364033|DOID:0070324|NCIT:C80374 Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype. DOID:0070324|UMLS:CN204753|SNOMEDCT:721311006|ORPHA:364033|NCIT:C80374 http://purl.obolibrary.org/obo/MONDO_0018223 systemic EBV-positive T-cell lymphoma of childhood|systemic EBV-positive T-cell lymphoproliferative disorder of childhood|systemic EBV+ T-cell LPD of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood|systemic EBV-positive T-cell lymphoproliferative disease of childhood ordo_disease MONDO:0018226 infantile epileptic-dyskinetic encephalopathy biolink:Disease mondo ICD10:G40.4|Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. ORPHA:364063 http://purl.obolibrary.org/obo/MONDO_0018226 ordo_disease MONDO:0018225 ALK-positive large B-cell lymphoma biolink:Disease mondo ICD10:C83.3|SCTID:715950008|Orphanet:364043|UMLS:C1333294|ICDO:9737/3|NCIT:C7225 Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis. NCIT:C7225|SNOMEDCT:715950008|ORPHA:364043|UMLS:C1333294 http://purl.obolibrary.org/obo/MONDO_0018225 ALK-DLBCL|diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase|ALK-positive large B-cell lymphoma|diffuse large B-cell lymphoma with expression of full-length ALK|ALK+ large B-cell lymphoma|ALK+ LBCL ordo_disease MONDO:0018220 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018220 MONDO:0018222 X-linked intellectual disability due to GRIA3 anomalies biolink:Disease mondo Orphanet:364028|ICD10:F72 ORPHA:364028 http://purl.obolibrary.org/obo/MONDO_0018222 ordo_disease MONDO:0018221 immune hydrops fetalis biolink:Disease mondo NCIT:C111904|Orphanet:364013|ICD9:773.3|SCTID:15539009|UMLS:C0455990|ICD10:P56.0 Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility. SNOMEDCT:15539009|ORPHA:364013|UMLS:C0455990|NCIT:C111904 http://purl.obolibrary.org/obo/MONDO_0018221 immune fetal edema|immune HF|IHF|immune fetal hydrops ordo_clinical_subtype MONDO:0006248 hydatidiform mole biolink:Disease mondo GARD:0010263|MedDRA:10020481|EFO:1000298|ONCOTREE:MP|ICD10:O01.1|MESH:D006828|ICD10:O01.0|SCTID:44782008|ICDO:9100/0|UMLS:C0020217|OMIMPS:231090|NCIT:C3110|ICD10:O01.9|Orphanet:99927|ICD9:631 A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. ORPHA:99927|MEDDRA:10020481|SNOMEDCT:44782008|MESH:D006828|UMLS:C0020217|NCIT:C3110 http://purl.obolibrary.org/obo/MONDO_0006248 HYDM|molar pregnancy|hydatid Mole|hydatidiform mole, recurrent|hydatidiform mole ordo_disease MONDO:0006249 hyperplastic polyp biolink:Disease mondo EFO:1000299|NCIT:C4083|UMLS:C0333983 A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000). NCIT:C4083|UMLS:C0333983 http://purl.obolibrary.org/obo/MONDO_0006249 metaplastic polyp|MP|Hp MONDO:0006246 high grade surface osteosarcoma biolink:Disease mondo EFO:1000296|UMLS:C1266165|ICDO:9194/3|NCIT:C53958|ONCOTREE:HGSOS A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. NCIT:C53958|UMLS:C1266165 http://purl.obolibrary.org/obo/MONDO_0006246 high-grade surface osteosarcoma|high grade surface osteosarcoma MONDO:0006247 histiocytic and dendritic cell neoplasm biolink:Disease mondo EFO:1000297|DOID:5621|UMLS:C1334030|UMLS:CN206982|NCIT:C9294|Orphanet:98287 Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001) DOID:5621|UMLS:CN206982|UMLS:C1334030|NCIT:C9294|ORPHA:98287 http://purl.obolibrary.org/obo/MONDO_0006247 histiocytic and dendritic cell cancer|histiocytic and Dendritic cell tumors|histiocytic and Dendritic cell neoplasms|histiocytic and dendritic cell tumor|histiocytic and dendritic cell|histiocytic and dendritic cell neoplasm ordo_group_of_disorders MONDO:0043237 glossodynia biolink:Disease mondo GARD:0006518|SCTID:30731004|MESH:D005926 Painful sensations in the tongue, including a sensation of burning. SNOMEDCT:30731004|MESH:D005926 http://purl.obolibrary.org/obo/MONDO_0043237 Glossopyroses|glossopyrosis|glossodynia|soreness of tongue|painful tongue|Glossalgias|Glossodynias|glossalgia gard_rare MONDO:0006244 HER2 positive breast carcinoma biolink:Disease mondo NCIT:C53556|DOID:0060079|EFO:1000294|SCTID:427685000|UMLS:C1960398 A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). SNOMEDCT:427685000|DOID:0060079|UMLS:C1960398|NCIT:C53556 http://purl.obolibrary.org/obo/MONDO_0006244 HER2 Overexpressing subtype of breast carcinoma|Her2-receptor positive breast cancer|HER2 Overexpressing breast carcinoma|ERBB2 Overexpressing subtype of breast carcinoma|HER2 positive breast carcinoma|HER2 Positive breast cancer MONDO:0006245 hidradenocarcinoma biolink:Disease mondo ICDO:8402/3|EFO:1000295|NCIT:C54664|GARD:0010439 A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes. NCIT:C54664 http://purl.obolibrary.org/obo/MONDO_0006245 clear cell eccrine carcinoma|hidradenocarcinoma GO:0045940 positive regulation of steroid metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving steroids. http://purl.obolibrary.org/obo/GO_0045940 up-regulation of steroid metabolic process|positive regulation of steroid metabolism|up regulation of steroid metabolic process|activation of steroid metabolic process|stimulation of steroid metabolic process|upregulation of steroid metabolic process MONDO:0006242 obsolete hepatoblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006242 FOODON:00002196 refined or partially-refined food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00002196 MONDO:0043230 ciguatera fish poisoning biolink:Disease mondo SCTID:241774007|GARD:0006113|MESH:D036841 Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances. SNOMEDCT:241774007|MESH:D036841 http://purl.obolibrary.org/obo/MONDO_0043230 ciguatera|ciguatera Poisonings|ciguatoxin causing toxic effect|ciguatera fish poisoning|poisoning, ciguatera fish|Poisonings, ciguatera fish|ciguatera poisoning|Poisonings, ciguatera|poisoning, ciguatera|toxic effect of ciguatera fish poisoning|ciguatera fish Poisonings gard_rare MONDO:0006243 hepatoid adenocarcinoma biolink:Disease mondo UMLS:C1266090|ICDO:8576/3|EFO:1000293|DOID:0060534|NCIT:C66950 An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. DOID:0060534|NCIT:C66950|UMLS:C1266090 http://purl.obolibrary.org/obo/MONDO_0006243 hepatoid adenocarcinoma|hepatoid carcinoma MONDO:0043233 exfoliative dermatitis biolink:Disease mondo MESH:D003873|SCTID:399992009|UMLS:C0011606|NCIT:C39646|GARD:0006393 The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) UMLS:C0011606|NCIT:C39646|SNOMEDCT:399992009|MESH:D003873 http://purl.obolibrary.org/obo/MONDO_0043233 exfoliative dermatitis|dermatitis exfoliativa|Erythrodermas|erythroderma|exfoliative Dermatitides|Dermatitides, exfoliative gard_rare MONDO:0006240 obsolete hemangiopericytic neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006240 MONDO:0006241 hepatic granuloma biolink:Disease mondo ICD9:572.8|EFO:1000291|SCTID:714253009|UMLS:C0745754 A granuloma located in the liver. SNOMEDCT:714253009|UMLS:C0745754|NCIT:C4936 http://purl.obolibrary.org/obo/MONDO_0006241 GO:0045947 negative regulation of translational initiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation. http://purl.obolibrary.org/obo/GO_0045947 down regulation of translational initiation|inhibition of translational initiation|down-regulation of translational initiation|downregulation of translational initiation GO:0045948 positive regulation of translational initiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of translational initiation. http://purl.obolibrary.org/obo/GO_0045948 upregulation of translational initiation|up regulation of translational initiation|stimulation of translational initiation|up-regulation of translational initiation|activation of translational initiation MONDO:0018217 Koolen-de Vries syndrome due to a point mutation biolink:Disease mondo ICD10:Q93.5|UMLS:CN204741|Orphanet:363965 ORPHA:363965|UMLS:CN204741 http://purl.obolibrary.org/obo/MONDO_0018217 ordo_etiological_subtype MONDO:0018216 17q21.31 microdeletion syndrome biolink:Disease mondo UMLS:CN204740|ICD10:Q93.5|Orphanet:363958 ORPHA:363958|UMLS:CN204740 http://purl.obolibrary.org/obo/MONDO_0018216 Del(17)(q21.31)|monosomy 17q21.31 ordo_etiological_subtype MONDO:0018219 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018219 GO:0045944 positive regulation of transcription by RNA polymerase II biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0045944 up-regulation of global transcription from RNA polymerase II promoter|upregulation of transcription from RNA polymerase II promoter|activation of transcription from RNA polymerase II promoter|stimulation of transcription from RNA polymerase II promoter|activation of global transcription from RNA polymerase II promoter|upregulation of global transcription from RNA polymerase II promoter|positive regulation of global transcription from Pol II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|up-regulation of transcription from RNA polymerase II promoter|stimulation of global transcription from RNA polymerase II promoter|up regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, global|positive regulation of transcription from Pol II promoter|positive regulation of transcription from RNA polymerase II promoter|up regulation of global transcription from RNA polymerase II promoter MONDO:0018218 autosomal recessive cerebral atrophy biolink:Disease mondo UMLS:CN204742|Orphanet:363969|ICD10:G31.8 ORPHA:363969|UMLS:CN204742 http://purl.obolibrary.org/obo/MONDO_0018218 ordo_disease MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 biolink:Disease mondo GARD:6635|PMID:18348718|SCTID:397734008|DOID:0070162|ICD10:G60.8|Orphanet:36386|GARD:0006635 Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. ORPHA:36386|SNOMEDCT:397734008|DOID:0070162|UMLS:C0020071 http://purl.obolibrary.org/obo/MONDO_0018213 HSAN 1|hereditary sensory and autonomic neuropathy type I|HSAN1|neuropathy hereditary sensory and autonomic type 1|HSN1|neuropathy hereditary sensory radicular, autosomal dominant|hereditary sensory neuropathy type 1 ordo_disease GO:0031399 regulation of protein modification process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. http://purl.obolibrary.org/obo/GO_0031399 MONDO:0018212 familial cervical artery dissection biolink:Disease mondo Orphanet:36382|ICD10:I72.5|ICD10:I72.0|UMLS:CN204734 An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome. ORPHA:36382|UMLS:CN204734 http://purl.obolibrary.org/obo/MONDO_0018212 familial CAD|hereditary CAD|hereditary cervical artery dissection ordo_disease MONDO:0018215 paraneoplastic neurologic syndrome biolink:Disease mondo MedDRA:10072106|GARD:0007326|SCTID:192877007|Orphanet:36388|ICD9:331.89 A paraneoplastic syndrome that involves the nervous system. UMLS:C3267031|SNOMEDCT:192877007|ORPHA:36388|MEDDRA:10072106 http://purl.obolibrary.org/obo/MONDO_0018215 paraneoplastic cerebellar degeneration|paraneoplastic syndrome of nervous system|PNS|nervous system paraneoplastic syndrome|PCD ordo_group_of_disorders MONDO:0021856 Alsing syndrome biolink:Disease mondo MESH:C536588|UMLS:C2931255|GARD:0009213 An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. UMLS:C2931255|MESH:C536588 http://purl.obolibrary.org/obo/MONDO_0021856 atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality gard_rare MONDO:0018214 generalized epilepsy with febrile seizures plus biolink:Disease mondo Orphanet:36387|ICD10:G40.3|MESH:C565808|NCIT:C122811|OMIMPS:604233|UMLS:C3502809|SCTID:699688008|DOID:0060170 Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS). NCIT:C122811|SNOMEDCT:699688008|UMLS:C3502809|MESH:C565808|DOID:0060170|ORPHA:36387 http://purl.obolibrary.org/obo/MONDO_0018214 generalized epilepsy with febrile seizures-plus|GEFS+|epilepsy, generalized, with febrile seizures plus ordo_disease MONDO:0018211 Balint syndrome biolink:Disease mondo SCTID:765212008|UMLS:C0270706|Orphanet:363746|ICD10:H51.8 Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. ORPHA:363746|UMLS:C0270706|SNOMEDCT:765212008 http://purl.obolibrary.org/obo/MONDO_0018211 psychic paralysis of visual fixation|Balint-Holmes syndrome|optic ataxia-gaze apraxia-simultanagnosia syndrome ordo_disease MONDO:0018210 Alexander disease type II biolink:Disease mondo UMLS:CN204730|ICD10:E75.2|Orphanet:363722 Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. UMLS:CN204730|ORPHA:363722 http://purl.obolibrary.org/obo/MONDO_0018210 AxD type II ordo_clinical_subtype MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan biolink:Disease mondo ICD10:G71.2|Orphanet:371024 ORPHA:371024 http://purl.obolibrary.org/obo/MONDO_0018282 dystroglycanopathy|Alpha-dystroglycanopathy ordo_group_of_disorders MONDO:0033839 osteoradionecrosis of the mandible biolink:Disease mondo Orphanet:521127 ORPHA:521127 http://purl.obolibrary.org/obo/MONDO_0033839 ordo_disease MONDO:0018281 congenital muscular dystrophy with hyperlaxity biolink:Disease mondo ICD10:G71.2|Orphanet:371007|SCTID:763314009 Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. ORPHA:371007|SNOMEDCT:763314009 http://purl.obolibrary.org/obo/MONDO_0018281 CMDH ordo_disease MONDO:0018284 congenital disorder of glycosylation with neurological involvement biolink:Disease mondo Orphanet:371047|ICD10:E77.8 ORPHA:371047 http://purl.obolibrary.org/obo/MONDO_0018284 CDG with neurological involvement ordo_group_of_disorders MONDO:0033838 radiation-induced plexopathy biolink:Disease mondo Orphanet:521123 ORPHA:521123 http://purl.obolibrary.org/obo/MONDO_0033838 ordo_disease MONDO:0018283 primary qualitative or quantitative defects of alpha-dystroglycan biolink:Disease mondo Orphanet:371040|ICD10:G71.2 ORPHA:371040 http://purl.obolibrary.org/obo/MONDO_0018283 primary dystroglycanopathy|primary alpha-dystroglycanopathy ordo_group_of_disorders MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy biolink:Disease mondo ICD10:G71.2|Orphanet:370997 Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts. ORPHA:370997 http://purl.obolibrary.org/obo/MONDO_0018280 MEB disease with bilateral multicystic leucodystrophy ordo_disease MONDO:0006299 obsolete mediastinal neuroblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006299 MONDO:0006297 maxillary sinus adenoid cystic carcinoma biolink:Disease mondo DOID:7198|NCIT:C6239|UMLS:C1334643|EFO:1000365 An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course. DOID:7198|UMLS:C1334643|NCIT:C6239 http://purl.obolibrary.org/obo/MONDO_0006297 adenoid cystic carcinoma of maxillary sinus|maxillary sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the maxillary sinus NCBITaxon:9903 Bos organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9903 oxen, cattle MONDO:0006298 mediastinal malignant germ cell tumor biolink:Disease mondo EFO:1000366|SCTID:713293002|NCIT:C6446|UMLS:C1334597 An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma. UMLS:C1334597|SNOMEDCT:713293002|NCIT:C6446 http://purl.obolibrary.org/obo/MONDO_0006298 malignant germ cell tumor of the mediastinum|malignant germ cell tumor of mediastinum|mediastinal malignant germ cell tumor|thymic malignant germ cell tumor|malignant germ cell neoplasm of the mediastinum|malignant mediastinal germ cell neoplasm|malignant germ cell neoplasm of mediastinum|malignant mediastinal germ cell tumor|mediastinal germ cell tumor, malignant MONDO:0006295 malignant urinary system neoplasm biolink:Disease mondo ICD10:C64.C68|DOID:3996|EFO:1000363|ICD9:189.9|NCIT:C9297|SCTID:448233000|ICD10:C68.9 A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas. NCIT:C9297|SNOMEDCT:448233000|DOID:3996 http://purl.obolibrary.org/obo/MONDO_0006295 malignant renal system neoplasm|urothelial/bladder cancer, NOS|malignant neoplasm of renal system|urinary system cancer|malignant urinary tract neoplasm|malignant urinary system neoplasm|cancer of renal system|renal system cancer|urothelial tract/bladder cancer, NOS MONDO:0006296 obsolete mast cell sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006296 MONDO:0006293 obsolete malignant mixed neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006293 MONDO:0006294 pleural cancer biolink:Disease mondo ICD9:163|ICD9:163.9|NCIT:C3547|EFO:1000362|DOID:5158|ICD10:C38.4|ICD9:163.8|UMLS:C0153494|SCTID:363433009|COHD:4180795 A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site. NCIT:C3547|DOID:5158|SNOMEDCT:363433009|UMLS:C0153494 http://purl.obolibrary.org/obo/MONDO_0006294 malignant tumor of the pleura|malignant pleura neoplasm|malignant pleural tumor|malignant neoplasm of pleura|pleural cancer|malignant neoplasm of the pleura|neoplasm of pleura|malignant pleural neoplasm|pleural tumor|cancer of pleura|pleura cancer|cancer of the pleura|malignant tumor of pleura MONDO:0006291 malignant jugulotympanic paraganglioma biolink:Disease mondo EFO:1000353|UMLS:C0347856|NCIT:C4623 A jugulotympanic paraganglioma that metastasizes to other anatomic sites. NCIT:C4623|UMLS:C0347856 http://purl.obolibrary.org/obo/MONDO_0006291 malignant glomus jugulare tumor|malignant jugular body neoplasm|malignant tumor of the glomus jugulare|cancer of jugular body|malignant tumor of glomus jugulare|malignant glomus jugulare neoplasm|malignant neoplasm of jugular body|malignant neoplasm of the glomus jugulare|jugular body cancer|malignant neoplasm of glomus jugulare|malignant jugulotympanic paraganglioma GO:0070914 UV-damage excision repair biolink:OntologyClass mondo A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). http://purl.obolibrary.org/obo/GO_0070914 AER|alternative excision repair|UV-damaged DNA endonuclease-dependent excision repair|UVDE-dependent excision repair|UVER MONDO:0006292 malignant mesothelioma (disease) biolink:Disease mondo ICD10:C45.0|ICDO:9050/3|UMLS:C0278752|ICD9:199.1|EFO:1000355|NCIT:C4456|UMLS:C0345967|OMIM:156240|MESH:C562839|SCTID:109378008|DOID:1790|UMLS:C1332338|HP:0100001|GARD:0007026|MedDRA:10027406|Orphanet:50251 A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos. UMLS:C1332338|UMLS:C0345967|UMLS:C0278752|SNOMEDCT:109378008|MEDDRA:10027406|DOID:1790|MESH:C562839|NCIT:C4456|http://identifiers.org/omim/156240|ORPHA:50251 http://purl.obolibrary.org/obo/MONDO_0006292 malignant mesothelioma|malignant tumor of the mesothelium|asbestos-related malignant mesothelioma|diffuse malignant mesothelioma|mesothelioma, malignant|MESOM|malignant tumor of mesothelium|mesothelioma, malignant; MESOM|malignant mesothelial neoplasm|malignant mesothelial tumor|malignant neoplasm of the mesothelium|malignant neoplasm of mesothelium|advanced malignant mesothelioma ordo_disease MONDO:0006290 malignant germ cell tumor biolink:Disease mondo NCIT:C4925|EFO:1000352|UMLS:C4048549|GARD:0003360|SCTID:145831000119103 A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma. SNOMEDCT:145831000119103|UMLS:C4048549|NCIT:C4925 http://purl.obolibrary.org/obo/MONDO_0006290 malignant tumor of the germ cell|germ cell cancer, NOS|malignant tumor of germ cell|malignant germ cell neoplasm|germ cell tumor, malignant|malignant neoplasm of germ cell|germ cell cancer|malignant neoplasm of the germ cell|cancer of germ cell|malignant germ cell tumor gard_rare MONDO:0018289 congenital disorder of glycosylation with dilated cardiomyopathy biolink:Disease mondo Orphanet:371176|ICD10:E77.8 ORPHA:371176 http://purl.obolibrary.org/obo/MONDO_0018289 CDG with dilated cardiomyopathy ordo_group_of_disorders MONDO:0018286 non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature biolink:Disease mondo ICD10:E77.8|Orphanet:371064 ORPHA:371064 http://purl.obolibrary.org/obo/MONDO_0018286 non-X-linked CDG with intellectual disability as a major feature obsoletion_candidate|ordo_group_of_disorders MONDO:0018285 X-linked congenital disorder of glycosylation with intellectual disability as a major feature biolink:Disease mondo ICD10:E77.8|Orphanet:371054 ORPHA:371054 http://purl.obolibrary.org/obo/MONDO_0018285 X-linked CDG with intellectual disability as a major feature obsoletion_candidate|ordo_group_of_disorders MONDO:0018288 congenital disorder of glycosylation with hepatic involvement biolink:Disease mondo Orphanet:371157|ICD10:E77.8 ORPHA:371157 http://purl.obolibrary.org/obo/MONDO_0018288 CDG with hepatic involvement ordo_group_of_disorders MONDO:0018287 congenital disorder of glycosylation with epilepsy as a major feature biolink:Disease mondo ICD10:E77.8|Orphanet:371071 ORPHA:371071 http://purl.obolibrary.org/obo/MONDO_0018287 CDG with epilepsy as a major feature ordo_group_of_disorders|obsoletion_candidate MONDO:0018271 peripheral primitive neuroectodermal tumor biolink:Disease mondo ICDO:9364/3|UMLS:C3489398|NCIT:C9341|ICD10:C71.9|UMLS:C0684337|Orphanet:370348 A small round cell tumor with neural differentiation arising from the soft tissues or bone. NCIT:C9341|UMLS:C3489398|UMLS:C0684337|ORPHA:370348 http://purl.obolibrary.org/obo/MONDO_0018271 PPNET|peripheral neuroectodermal neoplasm|pPNET|peripheral primitive neuroectodermal tumor|peripheral PNET|peripheral neuroepithelioma|peripheral primitive neuroectodermal neoplasm|peripheral neuroectodermal tumor ordo_disease MONDO:0018270 extraskeletal Ewing sarcoma biolink:Disease mondo Orphanet:370334|NCIT:C7135|UMLS:C0279980|ICD10:C49.9|DOID:4232|UMLS:CN204849 A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy. UMLS:C0279980|DOID:4232|NCIT:C7135|ORPHA:370334|UMLS:CN204849 http://purl.obolibrary.org/obo/MONDO_0018270 extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewing's sarcoma|extraskeletal Ewing tumor|extraosseous Ewing's tumor|extraosseous Ewing tumor|extraosseous Ewing sarcoma|extraskeletal Ewing sarcoma|EOE|Extra-osseous Ewing's sarcoma|extraskeletal Ewing's sarcoma ordo_disease MONDO:0018273 XYLT1-CDG biolink:Disease mondo UMLS:CN204859|ICD10:E77.8|Orphanet:370930 UMLS:CN204859|ORPHA:370930 http://purl.obolibrary.org/obo/MONDO_0018273 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation ordo_disease MONDO:0018272 obsolete small cell carcinoma of the ovary biolink:Disease mondo A small cell carcinoma that involves the ovary. http://purl.obolibrary.org/obo/MONDO_0018272 ovary small cell carcinoma HGNC:21732 ANTXR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21732 HGNC:21734 LHX4 biolink:OntologyClass mondo http://identifiers.org/hgnc/21734 NCBITaxon:9913 Bos taurus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9913 Bos bovis|Bos primigenius taurus|dairy cow|cow|domestic cow|domestic cattle|cattle|bovine HP:0030669 Abnormal ocular adnexa morphology biolink:PhenotypicFeature mondo UMLS:C4073120 A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/HP_0030669 MONDO:0018279 congenital muscular dystrophy without intellectual disability biolink:Disease mondo ICD10:G71.2|Orphanet:370980 ORPHA:370980 http://purl.obolibrary.org/obo/MONDO_0018279 CMD without intellectual disability|congenital muscular dystrophy-dystroglycanopathy without intellectual disability|CMD-no MR ordo_disease MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome biolink:Disease mondo Orphanet:521432 ORPHA:521432 http://purl.obolibrary.org/obo/MONDO_0033853 ordo_disease MONDO:0018278 congenital muscular dystrophy with intellectual disability biolink:Disease mondo Orphanet:370968|ICD10:G71.2 ORPHA:370968 http://purl.obolibrary.org/obo/MONDO_0018278 CMD with intellectual disability|CMD-MR ordo_disease MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect biolink:Disease mondo Orphanet:521411 ORPHA:521411 http://purl.obolibrary.org/obo/MONDO_0033850 ordo_disease MONDO:0018275 obsolete salt and pepper syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018275 MONDO:0018274 GM3 synthase deficiency biolink:Disease mondo OMIM:609056|ICD10:E77.8|Orphanet:171714|Orphanet:370938|UMLS:CN204860|Orphanet:370933|GARD:0012059|DOID:0060470|UMLS:C1836824|SCTID:722762005 GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. UMLS:CN204860|http://identifiers.org/omim/609056|ORPHA:370938|ORPHA:370933|SNOMEDCT:722762005|ORPHA:171714|DOID:0060470|UMLS:C1836824 http://purl.obolibrary.org/obo/MONDO_0018274 infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness|salt-and-pepper syndrome|disorder of lactosylceramide alpha-2,3-sialyltransferase activity|disorder of lactosylceramide alpha-2,3-sialyltransferase activity|salt and pepper developmental regression syndrome|ST3GAL5-CDG|salt and pepper developmental regression syndrome; SPDRS|lactosylceramide alpha-2,3-sialyltransferase activity disease|Amish infantile epilepsy syndrome|salt & pepper syndrome|salt and pepper mental retardation syndrome|SPDRS|epilepsy syndrome, infantile-onset symptomatic ordo_group_of_disorders MONDO:0018277 congenital muscular dystrophy with cerebellar involvement biolink:Disease mondo ICD10:G71.2|Orphanet:370959 ORPHA:370959 http://purl.obolibrary.org/obo/MONDO_0018277 CMD with cerebellar involvement|CMD-CRB ordo_disease MONDO:0018276 muscular dystrophy-dystroglycanopathy biolink:Disease mondo ICD10:G71.2|GARD:0012584|DOID:0050588|Orphanet:370953|UMLS:CN229783 UMLS:CN229783|ORPHA:370953|DOID:0050588 http://purl.obolibrary.org/obo/MONDO_0018276 congenital muscular dystrophy due to dystroglycanopathy|CMD due to dystroglycanopathy ordo_group_of_disorders MONDO:0018260 scalp syndrome biolink:Disease mondo ICD10:Q84.8|Orphanet:370052 ORPHA:370052 http://purl.obolibrary.org/obo/MONDO_0018260 sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome|sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome ordo_disease MONDO:0018262 fetal anticonvulsant syndrome biolink:Disease mondo ICD10:Q86.8|Orphanet:370068|UMLS:C1739111 UMLS:C1739111|ORPHA:370068 http://purl.obolibrary.org/obo/MONDO_0018262 FACS|fetal antiepileptic drug syndrome|fetal AEDS ordo_group_of_disorders MONDO:0018261 Nevada syndrome biolink:Disease mondo UMLS:CN204836|Orphanet:370059|ICD10:Q84.8 NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. UMLS:CN204836|ORPHA:370059 http://purl.obolibrary.org/obo/MONDO_0018261 Nevus epidermicus verrucosus with angiodysplasia and aneurysms ordo_disease MONDO:0033856 LAMA5-related multisystemic syndrome biolink:Disease mondo Orphanet:521450 ORPHA:521450 http://purl.obolibrary.org/obo/MONDO_0033856 ordo_disease HGNC:21701 BRAT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21701 MONDO:0006279 lung sarcomatoid carcinoma biolink:Disease mondo ICD9:162.9|ONCOTREE:SARCL|EFO:1000336|SCTID:707460002|NCIT:C45540 A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor. SNOMEDCT:707460002|NCIT:C45540 http://purl.obolibrary.org/obo/MONDO_0006279 sarcomatoid carcinoma of the lung|lung sarcomatoid carcinoma MONDO:0006277 lung lymphangioleiomyomatosis biolink:Disease mondo ICD9:518.89|MESH:D018192|Orphanet:538|OMIM:606690|DOID:3319|MedDRA:10049459|GARD:0003319|NCIT:C38153|EFO:1000334|ICD10:D48.7|ONCOTREE:LAM|COHD:4174275|SCTID:277844007 Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course. NCIT:C38153|MEDDRA:10049459|ORPHA:538|SNOMEDCT:277844007|http://identifiers.org/omim/606690|UMLS:C0751674|DOID:3319|MESH:D018192 http://purl.obolibrary.org/obo/MONDO_0006277 lung lymphangioleiomyomatosis|pulmonary lymphangiomyomatosis|lymphangioleiomyomatosis|lung lymphangiomyomatosis|lymphangiomyomatosis|pulmonary lymphangioleiomyomatosis HP:0030674 Antenatal onset biolink:PhenotypicFeature mondo UMLS:C2673646 Onset prior to birth. http://purl.obolibrary.org/obo/HP_0030674 MONDO:0006278 lung papilloma biolink:Disease mondo NCIT:C8295|UMLS:C0281373|EFO:1000335 A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction. NCIT:C8295|UMLS:C0281373 http://purl.obolibrary.org/obo/MONDO_0006278 respiratory tract papilloma|lung papilloma|papilloma of the respiratory tract|papilloma of respiratory tract MONDO:0006275 lung giant cell carcinoma biolink:Disease mondo MESH:D018286|DOID:5583|ICD9:162.9|UMLS:C0206703|SCTID:254631008|UMLS:C0345960|EFO:1000332|NCIT:C4452|ONCOTREE:GCLC A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion. NCIT:C4452|SNOMEDCT:254631008|UMLS:C0345960|DOID:5583|UMLS:C0206703|MESH:D018286 http://purl.obolibrary.org/obo/MONDO_0006275 giant cell lung carcinoma|giant cell carcinoma|lung giant cell carcinoma|giant cell carcinoma of lung|giant cell carcinoma of the lung|GCLC MONDO:0006276 lung inflammatory myofibroblastic tumor biolink:Disease mondo ICDO:8827/1|UMLS:C1518038|ONCOTREE:IMTL|EFO:1000333|NCIT:C39740 An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. NCIT:C39740|UMLS:C1518038 http://purl.obolibrary.org/obo/MONDO_0006276 lung inflammatory myofibroblastic tumor|inflammatory myofibroblastic lung tumor MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes biolink:Disease mondo EFO:1000329|UMLS:C1708749|NCIT:C45203 A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes. UMLS:C1708749|NCIT:C45203 http://purl.obolibrary.org/obo/MONDO_0006273 hyalinizing spindle cell tumor with giant Rosettes MONDO:0006274 low grade vulvar intraepithelial neoplasia biolink:Disease mondo NCIT:C4760|UMLS:C0495106|EFO:1000330 An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014) NCIT:C4760|UMLS:C0495106 http://purl.obolibrary.org/obo/MONDO_0006274 vulvar flat condyloma|VIN 1 of usual type|VIN 1|grade I VIN|grade 1 vulvar intraepithelial neoplasia|vulvar intraepithelial neoplasia grade 1|vulva intraepithelial neoplasia grade 1|low grade VIN|vulvar mild squamous dysplasia|vulvar intraepithelial neoplasia 1 of usual type|vulvar Low-grade squamous intraepithelial lesion|VIN grade 1|grade 1 VIN|grade I vulvar intraepithelial neoplasia|intraepithelial neoplasia of the vulva grade 1|intraepithelial neoplasia of vulva grade 1|vulvar Low grade squamous intraepithelial lesion MONDO:0006271 low grade central osteosarcoma biolink:Disease mondo EFO:1000327|ONCOTREE:LGCOS|UMLS:C3814534|ICDO:9187/3|NCIT:C6474|UMLS:C1266163 A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma. UMLS:C1266163|UMLS:C3814534|NCIT:C6474 http://purl.obolibrary.org/obo/MONDO_0006271 low grade central osteosarcoma|intraosseous well-differentiated osteogenic sarcoma|low-grade intramedullary osteosarcoma|low grade intramedullary osteosarcoma|intraosseous well-differentiated osteosarcoma|low-grade central osteosarcoma MONDO:0006272 low grade fibromyxoid sarcoma biolink:Disease mondo EFO:1000328|ICD9:171.9|UMLS:C1275282|NCIT:C45202|SCTID:404088004|ONCOTREE:LGFMS A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein. SNOMEDCT:404088004|NCIT:C45202|UMLS:C1275282 http://purl.obolibrary.org/obo/MONDO_0006272 low grade fibromyxoid sarcoma|low-grade fibromyxoid sarcoma MONDO:0006270 lobular breast carcinoma in situ biolink:Disease mondo EFO:1000326|SCTID:109888004|UMLS:C0279563|NCIT:C4018|ONCOTREE:LCIS|UMLS:C0334381|ICDO:8520/2 A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma. UMLS:C0334381|UMLS:C0279563|SNOMEDCT:109888004|NCIT:C4018 http://purl.obolibrary.org/obo/MONDO_0006270 non-invasive lobular carcinoma of breast|non-invasive lobular carcinoma of the breast|LCIS|non-invasive lobular breast carcinoma|lobular Ca in situ of breast|lobular Ca in situ of the breast|lobular carcinoma in situ of breast|lobular carcinoma in situ of the breast|breast lobular carcinoma in situ|non-infiltrating lobular carcinoma of breast|non-infiltrating lobular carcinoma of the breast|lobular carcinoma in situ (LCIS)|lobular carcinoma in situ|non-infiltrating lobular breast carcinoma|lobular breast carcinoma in situ|lobular carcinoma in situ of the breast (LCIS)|non-infiltrating lobular carcinoma MONDO:0018268 Medich giant platelet syndrome biolink:Disease mondo Orphanet:370127|ICD10:D69.1|UMLS:CN204847|UMLS:C4305375|SCTID:718554005 Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding. ORPHA:370127|SNOMEDCT:718554005|UMLS:CN204847|UMLS:C4305375 http://purl.obolibrary.org/obo/MONDO_0018268 Medich macrothrombocytopenia ordo_disease MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome biolink:Disease mondo Orphanet:522077|OMIM:618218 ORPHA:522077|http://identifiers.org/omim/618218 http://purl.obolibrary.org/obo/MONDO_0033864 ordo_disease MONDO:0018267 combined cervical dystonia biolink:Disease mondo ICD10:G24.3|Orphanet:370114 ORPHA:370114 http://purl.obolibrary.org/obo/MONDO_0018267 ordo_disease MONDO:0033862 primary autoimmune enteropathy biolink:Disease mondo Orphanet:522037 ORPHA:522037 http://purl.obolibrary.org/obo/MONDO_0033862 ordo_disease MONDO:0018269 white platelet syndrome biolink:Disease mondo ICD10:D69.1|UMLS:C2931293|MESH:C536702|Orphanet:370131|GARD:0009282|SCTID:718553004 White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. UMLS:C2931293|ORPHA:370131|SNOMEDCT:718553004|MESH:C536702 http://purl.obolibrary.org/obo/MONDO_0018269 platelet granule deficiency disorder ordo_disease|gard_rare MONDO:0018264 oculocutaneous albinism type 6 biolink:Disease mondo Orphanet:370097|SCTID:722058005|ICD10:E70.3|UMLS:C3805375|OMIM:113750 A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. UMLS:C3805375|http://identifiers.org/omim/113750|SNOMEDCT:722058005|ORPHA:370097 http://purl.obolibrary.org/obo/MONDO_0018264 OCA6|skin/hair/eye pigmentation 4, fair/dark skin|skin/hair/eye pigmentation, variation In, 4|albinism, oculocutaneous, type VI; OCA6 ordo_disease MONDO:0018263 fetal carbamazepine syndrome biolink:Disease mondo UMLS:CN204839|Orphanet:370076|ICD10:Q86.8|UMLS:C0432370|SCTID:254249002|ICD9:760.8 A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies. UMLS:CN204839|UMLS:C0432370|SNOMEDCT:254249002|ORPHA:370076 http://purl.obolibrary.org/obo/MONDO_0018263 ordo_disease MONDO:0018266 ataxia - telangiectasia variant biolink:Disease mondo UMLS:C1876175|ICD10:G11.3|Orphanet:370109 Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. ORPHA:370109|UMLS:C1876175 http://purl.obolibrary.org/obo/MONDO_0018266 v-AT ordo_disease MONDO:0018265 rare disorder with dystonia and other neurologic or systemic manifestation biolink:Disease mondo Orphanet:370106|UMLS:CN227296 ORPHA:370106|UMLS:CN227296 http://purl.obolibrary.org/obo/MONDO_0018265 ordo_group_of_disorders|obsoletion_candidate HP:0040006 Mortality/Aging biolink:PhenotypicFeature mondo UMLS:C4022499 http://purl.obolibrary.org/obo/HP_0040006 MONDO:0018251 glycogen storage disease due to phosphorylase kinase deficiency biolink:Disease mondo UMLS:C0268147|SCTID:235908005|NCIT:C122662|Orphanet:370|MESH:C580130|SCTID:40191005|ICD10:E74.0|DOID:0050594 Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. SNOMEDCT:235908005|UMLS:C0268147|NCIT:C122662|ORPHA:370|DOID:0050594|SNOMEDCT:40191005|MESH:C580130 http://purl.obolibrary.org/obo/MONDO_0018251 GSDIX|gycogenosis due to PhK deficiency|glycogen storage disease type 9|GSD due to phosphorylase kinase deficiency|GSD type IX|GSD type 9|glycogenosis due to phosphorylase kinase deficiency|glycogen storage disease IX|glycogenosis type 9|glycogen storage disease type IX|glycogen storage disease due to PhK deficiency|glycogenosis type IX|GSD IX|phosphorylase kinase deficiency ordo_group_of_disorders MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures biolink:Disease mondo ICD10:Q82.8|UMLS:CN204824|Orphanet:369999 UMLS:CN204824|ORPHA:369999 http://purl.obolibrary.org/obo/MONDO_0018250 ordo_disease GO:0045985 positive regulation of pyrimidine nucleobase metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. http://purl.obolibrary.org/obo/GO_0045985 up-regulation of pyrimidine base metabolic process|up regulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolic process|activation of pyrimidine base metabolic process|stimulation of pyrimidine base metabolic process|upregulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolism HP:0030682 Left ventricular noncompaction biolink:PhenotypicFeature mondo UMLS:C1960469 Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. http://purl.obolibrary.org/obo/HP_0030682 GO:0045983 positive regulation of purine nucleobase metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving purine bases. http://purl.obolibrary.org/obo/GO_0045983 positive regulation of purine base metabolic process|activation of purine base metabolic process|positive regulation of purine base metabolism|stimulation of purine base metabolic process|upregulation of purine base metabolic process|up-regulation of purine base metabolic process|up regulation of purine base metabolic process MONDO:0006288 malignant adrenal gland pheochromocytoma biolink:Disease mondo EFO:1000348|ICDO:8700/3|UMLS:C0334419|DOID:0080347|NCIT:C4220|SCTID:21851000119103 A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity. SNOMEDCT:21851000119103|NCIT:C4220|UMLS:C0334419|DOID:0080347 http://purl.obolibrary.org/obo/MONDO_0006288 malignant pheochromocytoma|malignant adrenal gland Chromaffinoma|malignant adrenal gland chromaffin paraganglioma|malignant adrenal medullary pheochromocytoma|malignant adrenal pheochromocytoma|malignant adrenal gland paraganglioma|malignant adrenal gland pheochromocytoma|malignant adrenal gland chromaffin tumor|malignant adrenal medullary paraganglioma|adrenal gland pheochromocytoma, malignant|pheochromoblastoma|malignant adrenal gland chromaffin neoplasm|pheochromocytoma, malignant GO:0045984 negative regulation of pyrimidine nucleobase metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. http://purl.obolibrary.org/obo/GO_0045984 inhibition of pyrimidine base metabolic process|downregulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolism|down-regulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolic process|down regulation of pyrimidine base metabolic process MONDO:0006289 obsolete malignant epitheloid mesothelioma biolink:Disease mondo EFO:1000351 http://purl.obolibrary.org/obo/MONDO_0006289 MONDO:0006286 major salivary gland mucoepidermoid carcinoma biolink:Disease mondo EFO:1000346|UMLS:C1334551|NCIT:C5906 A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. NCIT:C5906|UMLS:C1334551 http://purl.obolibrary.org/obo/MONDO_0006286 major salivary gland mucoepidermoid carcinoma|major salivary gland mucoepidermoid cancer|mucoepidermoid carcinoma of Major salivary gland|mucoepidermoid carcinoma of the Major salivary gland GO:0045981 positive regulation of nucleotide metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. http://purl.obolibrary.org/obo/GO_0045981 upregulation of nucleotide metabolic process|positive regulation of nucleotide metabolism|up regulation of nucleotide metabolic process|stimulation of nucleotide metabolic process|up-regulation of nucleotide metabolic process|activation of nucleotide metabolic process MONDO:0006287 malignancy in giant cell tumor of bone biolink:Disease mondo DOID:4719|NCIT:C4304|EFO:1000347|ICDO:9250/3|UMLS:C0334552 A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor). NCIT:C4304|UMLS:C0334552|DOID:4719 http://purl.obolibrary.org/obo/MONDO_0006287 giant cell tumor of bone, malignant (morphologic abnormality)|malignancy in giant cell tumor of bone|giant cell tumor of bone, malignant|giant cell sarcoma of bone|malignancy in giant cell tumor of the bone|bone giant cell sarcoma|giant cell bone sarcoma|malignant giant cell tumor of bone|Dedifferentiated giant cell tumor|OSTEOCLASTOMA, malignant|giant cell sarcoma of the bone GO:0045982 negative regulation of purine nucleobase metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving purine nucleobases. http://purl.obolibrary.org/obo/GO_0045982 down-regulation of purine base metabolic process|negative regulation of purine base metabolic process|down regulation of purine base metabolic process|inhibition of purine base metabolic process|downregulation of purine base metabolic process|negative regulation of purine base metabolism MONDO:0006284 major salivary gland carcinoma biolink:Disease mondo UMLS:C1334549|EFO:1000344|NCIT:C5907 A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland. NCIT:C5907|UMLS:C1334549 http://purl.obolibrary.org/obo/MONDO_0006284 carcinoma of Major salivary gland|carcinoma of the Major salivary gland|major salivary gland carcinoma|carcinoma of major salivary gland|major salivary gland cancer HP:0030680 Abnormality of cardiovascular system morphology biolink:PhenotypicFeature mondo UMLS:C4049796 Any structural anomaly of the heart and great vessels. http://purl.obolibrary.org/obo/HP_0030680 Cardiovascular malformations MONDO:0006285 major salivary gland carcinoma ex pleomorphic adenoma biolink:Disease mondo NCIT:C5975|UMLS:C1334550|EFO:1000345 A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. NCIT:C5975|UMLS:C1334550 http://purl.obolibrary.org/obo/MONDO_0006285 major salivary gland salivary gland carcinoma ex pleomorphic adenoma|major salivary gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of Major salivary gland|carcinoma ex pleomorphic adenoma of the Major salivary gland GO:0045980 negative regulation of nucleotide metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. http://purl.obolibrary.org/obo/GO_0045980 down regulation of nucleotide metabolic process|inhibition of nucleotide metabolic process|down-regulation of nucleotide metabolic process|negative regulation of nucleotide metabolism|downregulation of nucleotide metabolic process HP:0030681 Abnormal morphology of myocardial trabeculae biolink:PhenotypicFeature mondo UMLS:C4073289 Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). http://purl.obolibrary.org/obo/HP_0030681 MONDO:0006282 lymphangiosarcoma biolink:Disease mondo ICD9:171.9|UMLS:C0024224|DOID:2689|NCIT:C3205|ICDO:9170/3|SCTID:403986008|EFO:1000339|MESH:D008204 A malignant neoplasm arising from the endothelial cells of the lymphatic vessels. NCIT:C3205|MESH:D008204|UMLS:C0024224|SNOMEDCT:403986008|DOID:2689 http://purl.obolibrary.org/obo/MONDO_0006282 lymphangioendothelial sarcoma|lymphangiosarcoma, malignant|lymphangiosarcoma|skin lymphangiosarcoma|Stewart-Treves syndrome|lymphangiosarcoma of Stewart and Treves|malignant lymphangioendothelioma MONDO:0006283 lymphoepithelioma-like lung carcinoma biolink:Disease mondo NCIT:C45519|UMLS:C1708792|EFO:1000340|ONCOTREE:LECLC A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration. UMLS:C1708792|NCIT:C45519 http://purl.obolibrary.org/obo/MONDO_0006283 lymphoepithelioma-like carcinoma of the lung MONDO:0006280 lung sclerosing hemangioma biolink:Disease mondo UMLS:C1509148|ICD9:228.09|NCIT:C5656|MESH:D047868|SCTID:707365008|DOID:5766|EFO:1000337|DOID:495 A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic. UMLS:C1509148|DOID:5766|DOID:495|MESH:D047868|NCIT:C5656|SNOMEDCT:707365008 http://purl.obolibrary.org/obo/MONDO_0006280 sclerosing hemangioma|sclerosing hemangioma of lung|sclerosing hemangioma of the lung|sclerosing haemangioma|lung sclerosing angioma|Pneumocytoma|sclerosing angioma of lung|pulmonary sclerosing hemangioma|sclerosing angioma of the lung|lung sclerosing hemangioma|sclerosing Pneumocytoma GO:0070925 organelle assembly biolink:OntologyClass mondo The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0070925 MONDO:0006281 lung signet ring cell carcinoma biolink:Disease mondo DOID:0080305|NCIT:C45514|SCTID:707407001|ICD9:162.9|EFO:1000338 A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells. DOID:0080305|SNOMEDCT:707407001|NCIT:C45514 http://purl.obolibrary.org/obo/MONDO_0006281 signet ring lung adenocarcinoma|lung signet ring cell carcinoma MONDO:0018257 familial syringomyelia biolink:Disease mondo ICD10:Q06.4|Orphanet:370034|UMLS:CN204832 An instance of syringomyelia that is caused by an inherited modification of the individual's genome. ORPHA:370034|UMLS:CN204832 http://purl.obolibrary.org/obo/MONDO_0018257 hereditary syringomyelia ordo_clinical_subtype MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation biolink:Disease mondo ICD10:C92.0|Orphanet:370026|UMLS:C4511003|SCTID:725390002|UMLS:CN204831 A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. UMLS:C4511003|ORPHA:370026|SNOMEDCT:725390002|UMLS:CN204831 http://purl.obolibrary.org/obo/MONDO_0018256 AML with t(8;16)(p11;p13) translocation ordo_disease MONDO:0018259 didymosis aplasticosebacea biolink:Disease mondo ICD10:Q84.8|Orphanet:370046|UMLS:CN204834 ORPHA:370046|UMLS:CN204834 http://purl.obolibrary.org/obo/MONDO_0018259 aplasia cutis congenita-nevus sebaceus syndrome ordo_disease MONDO:0018258 Angora hair nevus biolink:Disease mondo Orphanet:370039|ICD10:Q82.5|UMLS:CN204833 ORPHA:370039|UMLS:CN204833 http://purl.obolibrary.org/obo/MONDO_0018258 Schauder syndrome ordo_disease MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome biolink:Disease mondo UMLS:CN204829|ICD10:Q87.0|Orphanet:370010 ORPHA:370010|UMLS:CN204829 http://purl.obolibrary.org/obo/MONDO_0018253 ordo_malformation_syndrome MONDO:0018252 focal palmoplantar keratoderma with joint keratoses biolink:Disease mondo UMLS:CN204827|ICD10:Q82.8|Orphanet:370002 ORPHA:370002|UMLS:CN204827 http://purl.obolibrary.org/obo/MONDO_0018252 ordo_disease MONDO:0018255 spondylometaphyseal dysplasia, Czarny-Ratajczak type biolink:Disease mondo Orphanet:370019|ICD10:Q77.8 ORPHA:370019 http://purl.obolibrary.org/obo/MONDO_0018255 ordo_disease MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type biolink:Disease mondo ICD10:Q77.8|Orphanet:370015 ORPHA:370015 http://purl.obolibrary.org/obo/MONDO_0018254 ordo_disease HGNC:21708 CCM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/21708 MONDO:0008959 CHAND syndrome biolink:Disease mondo OMIM:214350|UMLS:C0406733|UMLS:CN199447|SCTID:239037001|Orphanet:1401|MESH:C538074 UMLS:CN199447|SNOMEDCT:239037001|MESH:C538074|UMLS:C0406733|ORPHA:1401|http://identifiers.org/omim/214350 http://purl.obolibrary.org/obo/MONDO_0008959 CHANDS|curly hair-ankyloblepharon-nail dysplasia syndrome|CHAND syndrome; CHANDS MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive biolink:Disease mondo UMLS:C1859209|MESH:C536888|OMIM:214300 Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene. MESH:C536888|UMLS:C1859209|http://identifiers.org/omim/214300 http://purl.obolibrary.org/obo/MONDO_0008958 Kfs, autosomal recessive|cervical vertebral fusion, autosomal recessive|MEOX1 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in MEOX1|KFS2|Klippel-FEIL syndrome 2, autosomal recessive; KFS2|Klippel-Feil syndrome 2, autosomal recessive MONDO:0008957 cervical vertebrae, agenesis of biolink:Disease mondo OMIM:214290|MESH:C562952 MESH:C562952|http://identifiers.org/omim/214290 http://purl.obolibrary.org/obo/MONDO_0008957 cervical vertebrae, agenesis of HGNC:1339 C6 biolink:OntologyClass mondo http://identifiers.org/hgnc/1339 MONDO:0008956 congenital neuronal ceroid lipofuscinosis biolink:Disease mondo Orphanet:168486|GARD:0009447|SCTID:720830009|OMIM:214200|ICD10:E75.4 Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy. SNOMEDCT:720830009|ORPHA:168486|http://identifiers.org/omim/214200 http://purl.obolibrary.org/obo/MONDO_0008956 congenital NCL|ceroid storage disease|lipofuscin storage disease ordo_disease CHEBI:22744 benzyl group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_22744 benzyl|phenylalanine side-chain|phenylmethyl|C6H5-CH2-|Bn MONDO:0008955 cerebrooculofacioskeletal syndrome 1 biolink:Disease mondo OMIM:214150 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. http://identifiers.org/omim/214150 http://purl.obolibrary.org/obo/MONDO_0008955 COFS syndrome caused by mutation in ERCC6|Pena-Shokeir syndrome, type 2|cerebrooculofacioskeletal syndrome 1|cerebrooculofacioskeletal syndrome 1; COFS1|COFS syndrome|ERCC6 COFS syndrome|COFS1|cerebrooculofacioskeletal syndrome type 1 MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) biolink:Disease mondo UMLS:C3550273|OMIM:214110 UMLS:C3550273|http://identifiers.org/omim/214110 http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger); PBD2A|peroxisome biogenesis disorder 2A (Zellweger)|PBD2A|peroxisome biogenesis disorder, complementation group 2 HGNC:3999 FTL biolink:OntologyClass mondo http://identifiers.org/hgnc/3999 MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) biolink:Disease mondo OMIM:214100 http://identifiers.org/omim/214100 http://purl.obolibrary.org/obo/MONDO_0008953 PBD1A|Cerebrohepatorenal syndrome|peroxisome biogenesis disorder 1A (Zellweger)|peroxisome biogenesis disorder 1A (Zellweger); PBD1A|Zs|peroxisome biogenesis disorder, complementation group E|peroxisome biogenesis disorder, complementation group 1 MONDO:0008952 cerebrofaciothoracic dysplasia biolink:Disease mondo Orphanet:1394|OMIM:213980|MESH:C565862|ICD10:Q87.5|SCTID:720635002|GARD:0001210 Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. http://identifiers.org/omim/213980|SNOMEDCT:720635002|ORPHA:1394|MESH:C565862 http://purl.obolibrary.org/obo/MONDO_0008952 cerebro facio thoracic dysplasia|craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome; CFSMR|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome|pascual-Castroviejo syndrome type 1|cerebrofaciothoracic dysplasia|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome; CFSMR|pascual-Castroviejo syndrome|craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome|CFSMR gard_rare|ordo_malformation_syndrome MONDO:0008951 cerebrocortical degeneration of infancy biolink:Disease mondo OMIM:213950|MESH:C565863|UMLS:C1859257 UMLS:C1859257|MESH:C565863|http://identifiers.org/omim/213950 http://purl.obolibrary.org/obo/MONDO_0008951 cerebrocortical degeneration of infancy MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease biolink:Disease mondo OMIM:213900|MESH:C536318|GARD:0007348 MESH:C536318|http://identifiers.org/omim/213900 http://purl.obolibrary.org/obo/MONDO_0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease gard_rare MONDO:0021929 traumatic myositis ossificans biolink:Disease mondo ICD9:728.12|NCIT:C35081|SCTID:70917000|UMLS:C0040798 Myositis Ossificans resulting from trauma. NCIT:C35081|SNOMEDCT:70917000|UMLS:C0040798 http://purl.obolibrary.org/obo/MONDO_0021929 Myositis ossificans traumatica|myositis ossificans traumatica|traumatic myositis ossificans|Traumatic Myositis Ossificans|Traumatic myositis ossificans|myositis ossificans circumscripta|Myositis ossificans circumscripta UBERON:0005594 head somite biolink:AnatomicalEntity mondo Somite located in the head region, caudal to the otic vesicle http://purl.obolibrary.org/obo/UBERON_0005594 occipital somite|cranial somite HGNC:1346 C7 biolink:OntologyClass mondo http://identifiers.org/hgnc/1346 NCBITaxon:2212966 Echinococcus granulosus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2212966 MONDO:0021921 Arnold stickler bourne syndrome biolink:Disease mondo GARD:0000366|UMLS:C2931492|MESH:C537431 MESH:C537431|UMLS:C2931492 http://purl.obolibrary.org/obo/MONDO_0021921 corneal crystals myopathy and neuropathy|corneal crystals myopathy and nephropathy gard_rare MONDO:0021923 Arroyo Garcia Cimadevilla syndrome biolink:Disease mondo MESH:C537439|UMLS:C2931494|GARD:0000771 A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). MESH:C537439|UMLS:C2931494 http://purl.obolibrary.org/obo/MONDO_0021923 bilateral anophthalmia, esophageal atresia, and right cryptorchidism gard_rare|n_of_one MONDO:0021925 tracheobronchitis biolink:Disease mondo NCIT:C122784|SCTID:13617004|UMLS:C0040586 Inflammation of the tracheobronchial tree. NCIT:C122784|UMLS:C0040586|SNOMEDCT:13617004 http://purl.obolibrary.org/obo/MONDO_0021925 tracheobronchitis|Tracheobronchitis HGNC:1343 TRAF3IP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1343 UBERON:0005599 common dorsal aorta biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005599 UBERON:0005598 trunk somite biolink:AnatomicalEntity mondo A somite that is part of a trunk. http://purl.obolibrary.org/obo/UBERON_0005598 MONDO:0021927 arthrogryposis epileptic seizures migrational brain disorder biolink:Disease mondo MESH:C537442|UMLS:C2931495|GARD:0000781 UMLS:C2931495|MESH:C537442 http://purl.obolibrary.org/obo/MONDO_0021927 arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder gard_rare UBERON:0005597 lung primordium biolink:AnatomicalEntity mondo A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. http://purl.obolibrary.org/obo/UBERON_0005597 lateral diverticula|lung endoderm|lung diverticulum MONDO:0006309 mucinous gastric adenocarcinoma biolink:Disease mondo ONCOTREE:MSTAD|DOID:3716|NCIT:C5248|UMLS:C1334809|EFO:1000386 A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools. DOID:3716|NCIT:C5248|UMLS:C1334809 http://purl.obolibrary.org/obo/MONDO_0006309 mucinous adenocarcinoma of the stomach|stomach mucinous adenocarcinoma|mucinous stomach adenocarcinoma|mucinous adenocarcinoma of stomach|mucinous gastric adenocarcinoma|MSTAD MONDO:0006307 mixed somatotroph-lactotroph pituitary gland adenoma biolink:Disease mondo EFO:1000383|UMLS:C1709052|NCIT:C45927 An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry. NCIT:C45927|UMLS:C1709052 http://purl.obolibrary.org/obo/MONDO_0006307 mixed somatotroph-lactotroph adenoma|Mixed somatotroph and lactotroph adenoma|mixed GH-PRL cell adenoma|mixed Somatolactotrope adenoma|Mixed somatotroph and lactotroph adenoma|mixed somatotroph-lactotroph pituitary gland adenoma MONDO:0033926 prepubertal anorexia nervosa biolink:Disease mondo Orphanet:525738 ORPHA:525738 http://purl.obolibrary.org/obo/MONDO_0033926 ordo_disease MONDO:0008969 cholesterol pneumonia biolink:Disease mondo GARD:0008500|OMIM:215030|SCTID:233728004|MESH:C535937|ICD9:516.8|UMLS:C0549472 MESH:C535937|http://identifiers.org/omim/215030|UMLS:C0549472|SNOMEDCT:233728004 http://purl.obolibrary.org/obo/MONDO_0008969 familiaere cholesterin-Pneumonie|cholesterol pneumonia gard_rare MONDO:0006308 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006308 MONDO:0033925 pediatric-onset Graves disease biolink:Disease mondo Orphanet:525731 ORPHA:525731 http://purl.obolibrary.org/obo/MONDO_0033925 ordo_disease MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance biolink:Disease mondo UMLS:C1859161|MESH:C565856|OMIM:214980 UMLS:C1859161|MESH:C565856|http://identifiers.org/omim/214980 http://purl.obolibrary.org/obo/MONDO_0008968 cholestasis with gallstone, ataxia, and visual disturbance MONDO:0006305 obsolete mixed cell uveal melanoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006305 MONDO:0006306 mixed lobular and ductal breast carcinoma biolink:Disease mondo EFO:1000382|SCTID:444604002|ONCOTREE:MDLC|ICD9:174.8|NCIT:C5160|UMLS:C0334384 A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor. NCIT:C5160|UMLS:C0334384|SNOMEDCT:444604002 http://purl.obolibrary.org/obo/MONDO_0006306 mixed lobular and ductal carcinoma of breast|mixed lobular and ductal carcinoma of the breast|mixed lobular and ductal breast carcinoma|mixed ductal and lobular carcinoma of breast|mixed ductal and lobular carcinoma of the breast|mixed lobular and ductal carcinoma|breast mixed ductal and lobular carcinoma|mixed ductal and lobular breast carcinoma|ductal and lobular carcinoma MONDO:0008967 congenital bile acid synthesis defect 4 biolink:Disease mondo MESH:C535444|DOID:0111068|Orphanet:79095|GARD:0010046|ICD10:K76.8|OMIM:214950 Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. UMLS:C1858328|DOID:0111068|ORPHA:79095|MESH:C535444|http://identifiers.org/omim/214950 http://purl.obolibrary.org/obo/MONDO_0008967 Trihydroxycoprostanic acid in bile|trihydroxycoprostanic acid in bile|Trihydroxycoprostanic acid to cholic acid|Alpha-methyl-acyl-CoA racemase deficiency|bile acid synthesis defect, congenital, 4|bile acid synthesis defect, congenital, type 4|BASD4|2-methylacyl-CoA racemase deficiency|CBAS4|intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome|cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid|congenital bile acid synthesis defect type 4|AMACR deficiency|cholestasis, intrahepatic, with defective conversion of|bile acid synthesis defect, congenital, 4; CBAS4 ordo_disease|gard_rare MONDO:0006303 middle ear squamous cell carcinoma biolink:Disease mondo EFO:1000378|DOID:5526|NCIT:C6086|UMLS:C1334762 A rare squamous cell carcinoma that arises from the middle ear. UMLS:C1334762|DOID:5526|NCIT:C6086 http://purl.obolibrary.org/obo/MONDO_0006303 squamous cell carcinoma of the middle Ear|middle ear squamous cell carcinoma|middle Ear epidermoid carcinoma|epidermoid carcinoma of the middle ear|epidermoid carcinoma of middle Ear|epidermoid carcinoma of the middle Ear|squamous cell carcinoma of middle ear|squamous cell carcinoma of middle Ear MONDO:0008966 Aagenaes syndrome biolink:Disease mondo NCIT:C35709|GARD:0000370|DOID:6691|MESH:C535330|OMIM:214900|SCTID:28724005|Orphanet:1414|UMLS:C0268314|ICD9:576.8|ICD10:Q82.0 Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. UMLS:C0268314|DOID:6691|NCIT:C35709|ORPHA:1414|SNOMEDCT:28724005|MESH:C535330|http://identifiers.org/omim/214900 http://purl.obolibrary.org/obo/MONDO_0008966 cholestasis-edema syndrome, Norwegian type|LCS1|cholestasis-lymphedema syndrome|Aagenaes syndrome|LCS|lymphedema cholestasis syndrome|cholestasis lymphedema syndrome|lymphedema-cholestasis syndrome|Chls gard_rare|ordo_disease HGNC:1348 SAMD9 biolink:OntologyClass mondo http://identifiers.org/hgnc/1348 MONDO:0008965 CHARGE syndrome biolink:Disease mondo ICD9:759.89|OMIM:214800|UMLS:C0265354|Orphanet:138|DOID:0050834|GARD:0000029|ICD10:Q89.8|MESH:D058747|MedDRA:10064063|SCTID:47535005|ICD10:Q87.8|NCIT:C75100 CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). MESH:D058747|MEDDRA:10064063|SNOMEDCT:47535005|NCIT:C75100|UMLS:C0265354|ORPHA:138|DOID:0050834|http://identifiers.org/omim/214800 http://purl.obolibrary.org/obo/MONDO_0008965 coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|CHARGE association|Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies|CHARGE syndrome|coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association|coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|Hall-Hittner syndrome|coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association gard_rare|ordo_malformation_syndrome MONDO:0006304 minor salivary gland adenocarcinoma biolink:Disease mondo NCIT:C5948|UMLS:C1334768|EFO:1000379 An adenocarcinoma that arises from the minor salivary glands. NCIT:C5948|UMLS:C1334768 http://purl.obolibrary.org/obo/MONDO_0006304 adenocarcinoma of minor salivary gland|adenocarcinoma of the minor salivary gland HGNC:1349 SAMD9L biolink:OntologyClass mondo http://identifiers.org/hgnc/1349 MONDO:0008964 congenital secretory chloride diarrhea 1 biolink:Disease mondo GARD:0010001|ICD10:P78.3|SCTID:24412005|OMIM:214700|ICD9:579.8|Orphanet:53689|DOID:0060296|MESH:C536210 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene. SNOMEDCT:24412005|ORPHA:53689|UMLS:C0267662|MESH:C536210|http://identifiers.org/omim/214700|DOID:0060296 http://purl.obolibrary.org/obo/MONDO_0008964 secretory diarrhea caused by mutation in SLC26A3|congenital chloridorrhea|DIAR1|chloride diarrhea, congenital, Finnish type|Chloridorrhea, congenital|Darrow-gamble disease|congenital chloride diarrhea Finnish type|congenital chloride diarrhea|CLD|familial chloride diarrhea|SLC26A3 secretory diarrhea|diarrhea 1, secretory chloride, congenital|congenital secretory chloride diarrhea type 1|diarrhea 1, secretory chloride, congenital; DIAR1 ordo_disease MONDO:0006301 metanephric adenoma biolink:Disease mondo ICDO:8191/0|ICDO:8325/0|NCIT:C27253|DOID:6404|UMLS:C1266045|EFO:1000373 A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. UMLS:C1266045|DOID:6404|NCIT:C27253 http://purl.obolibrary.org/obo/MONDO_0006301 metanephric adenoma (morphologic abnormality)|metanephric adenoma MONDO:0008963 Chediak-Higashi syndrome biolink:Disease mondo ICD10:E70.3|GARD:0006035|DOID:2935|ICD10:E70.330|UMLS:C0007965|SCTID:111396008|ICD10:D72.0|NCIT:C2941|MedDRA:10008415|OMIM:214500|MESH:D002609|Orphanet:167 ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. DOID:2935|MEDDRA:10008415|SNOMEDCT:111396008|MESH:D002609|NCIT:C2941|ORPHA:167|http://identifiers.org/omim/214500|UMLS:C0007965 http://purl.obolibrary.org/obo/MONDO_0008963 Chédiak-Higashi-Steinbrink syndrome|Chediak Higashi syndrome|Chediak-Higashi syndrome; CHS|ChC)diak-Higashi disease|Chédiak-Higashi syndrome|ChC)diak-Higashi-Steinbrink syndrome|CHS|Chédiak-Higashi disease|Chediak-Higashi syndrome|Chediak - Steinbrinck anomaly gard_rare|ordo_disease MONDO:0006302 micropapillary serous carcinoma biolink:Disease mondo NCIT:C6882|EFO:1000377 An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio. NCIT:C6882 http://purl.obolibrary.org/obo/MONDO_0006302 MONDO:0008962 Griscelli syndrome type 1 biolink:Disease mondo UMLS:C1859194|ICD10:E70.3|OMIM:214450|MESH:C537301|Orphanet:79476|DOID:0060832|GARD:0002566 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2. DOID:0060832|UMLS:C1859194|MESH:C537301|http://identifiers.org/omim/214450|ORPHA:79476 http://purl.obolibrary.org/obo/MONDO_0008962 Griscelli-PruniC)ras syndrome type 1|Griscelli syndrome, type 1|hypopigmentation-neurologic impairment syndrome|pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts|Griscelli-Pruniéras syndrome type 1|Griscelli syndrome, cutaneous and neurological type|Griscelli syndrome with neurological impairment|partial albinism and primary neurologic disease without hemophagocytic syndrome|Griscelli syndrome, cutaneous and neurologic type|GS1|Griscelli syndrome, type 1; GS1|Griscelli disease type 1|Griscelli syndrome with neurologic impairment gard_rare|ordo_clinical_subtype MONDO:0008961 Charcot-Marie-Tooth disease type 4A biolink:Disease mondo MESH:C535419|ICD10:G60.0|DOID:0110185|SCTID:715796006|OMIM:214400|UMLS:C1859198|GARD:0001252|Orphanet:99948 Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. UMLS:C1859198|ORPHA:99948|SNOMEDCT:715796006|http://identifiers.org/omim/214400|DOID:0110185|MESH:C535419 http://purl.obolibrary.org/obo/MONDO_0008961 autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive|Charcot-Marie-Tooth neuropathy, type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A|Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1|Charcot Marie Tooth disease type 4A|Charcot-Marie-Tooth disease, type 4A; CMT4A|GDAP1 Charcot-Marie-Tooth disease type 4|CMT4A|Charcot-Marie-Tooth neuropathy type 4A|Charcot-Marie-Tooth disease, type 4A gard_rare|ordo_disease MONDO:0006300 medullomyoblastoma with myogenic differentiation biolink:Disease mondo NCIT:C3706|EFO:1000368|UMLS:C0205833|DOID:3861|ICDO:9472/3|ONCOTREE:MMB A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma. NCIT:C3706|DOID:3861|UMLS:C0205833 http://purl.obolibrary.org/obo/MONDO_0006300 MMB|medullomyoblastoma|medullomyoblastoma with myogenic differentiation MONDO:0008960 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome biolink:Disease mondo Orphanet:90103|ICD10:G60.0|OMIM:214370|SCTID:715666007 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. SNOMEDCT:715666007|ORPHA:90103|http://identifiers.org/omim/214370 http://purl.obolibrary.org/obo/MONDO_0008960 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers|hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers|neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers|Charcot-Marie-Tooth disease and deafness|deafness with Charcot-Marie-Tooth disease ordo_malformation_syndrome MONDO:0021918 arena syndrome biolink:Disease mondo GARD:0009223|UMLS:C2931491|MESH:C537428 UMLS:C2931491|MESH:C537428 http://purl.obolibrary.org/obo/MONDO_0021918 spastic paraplegia with iron deposits in basal ganglia gard_rare NCBITaxon:9963 Caprinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9963 HP:0005656 Positional foot deformity biolink:PhenotypicFeature mondo UMLS:C4025161 A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. http://purl.obolibrary.org/obo/HP_0005656 ECTO:0001055 exposure to decreased amount of temperature of air biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of air. http://purl.obolibrary.org/obo/ECTO_0001055 exposure to decreased amount in temperature of air MONDO:0021910 obsolete aplasia cutis myopia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021910 HGNC:1358 C9 biolink:OntologyClass mondo http://identifiers.org/hgnc/1358 ECTO:0001057 exposure to decreased temperature biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to decreased temperature. http://purl.obolibrary.org/obo/ECTO_0001057 decreased temperature exposure HGNC:1356 ERLIN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1356 MONDO:0021913 aquagenic pruritus biolink:Disease mondo SCTID:238695001|GARD:0010278|ICD9:698.8|UMLS:C0406409 Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success. SNOMEDCT:238695001|UMLS:C0406409 http://purl.obolibrary.org/obo/MONDO_0021913 water-induced itching|aquagenic pruritus gard_rare HGNC:1353 C8B biolink:OntologyClass mondo http://identifiers.org/hgnc/1353 MONDO:0021915 arakawa syndrome 2 biolink:Disease mondo NCIT:C99081|UMLS:C0268611|MESH:C537426|SCTID:89579000 A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. UMLS:C0268611|SNOMEDCT:89579000|MESH:C537426|NCIT:C99081 http://purl.obolibrary.org/obo/MONDO_0021915 N5-methylhomocysteine transferase deficiency|tetrahydrofolate-methyltransferase deficiency syndrome|methionine synthase deficiency|methylcobalamin deficiency, cblG type|Arakawa's syndrome 2|tetrahydrofolate methyltransferase deficiency|Arakawa syndrome II|Arakawa's syndrome II|homocystinuria-megaloblastic Anemia, cblG complementation type HGNC:1352 C8A biolink:OntologyClass mondo http://identifiers.org/hgnc/1352 MONDO:0008939 isolated cerebellar hypoplasia/agenesis biolink:Disease mondo NCIT:C98890|ICD10:Q04.3|SCTID:16026008|Orphanet:1398|OMIM:213000|GARD:0001194|MedDRA:10008033|MESH:C562568 Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. UMLS:C0344488|ORPHA:1398|http://identifiers.org/omim/213000|NCIT:C98890|MESH:C562568|MEDDRA:10008033|SNOMEDCT:16026008|UMLS:C0266470 http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar agenesis|near total absence of cerebellum|Chiari 4 malformation|Chiari IV malformation|congenital cerebellar Hypoplasia|subtotal absence of cerebellum|cerebellar hypoplasia ordo_morphological_anomaly MONDO:0033939 hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome biolink:Disease mondo Orphanet:528105 ORPHA:528105 http://purl.obolibrary.org/obo/MONDO_0033939 ordo_disease MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes biolink:Disease mondo ICD10:G11.1|UMLS:C0393520|GARD:0002600|SCTID:230228004|ICD9:334.3|OMIM:212895|MESH:C535633|Orphanet:1177 Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. SNOMEDCT:230228004|MESH:C535633|http://identifiers.org/omim/212895|UMLS:C0393520|ORPHA:1177 http://purl.obolibrary.org/obo/MONDO_0008938 cerebellar ataxia, early-onset, with retained tendon reflexes|ataxia, harding type|EOCA|cerebellar ataxia early onset with retained tendon reflex|Harding ataxia|EOCARR|cerebellar ataxia, early-onset, with retained tendon reflexes; EOCA ordo_disease MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia biolink:Disease mondo OMIM:212890|MESH:C565868|UMLS:C1859303 MESH:C565868|http://identifiers.org/omim/212890|UMLS:C1859303 http://purl.obolibrary.org/obo/MONDO_0008937 cerebellar ataxia, benign, with thermoanalgesia|cerebellar ataxia with loss of pain and temperature sensation MONDO:0008936 cerebellar ataxia and neurosensory deafness biolink:Disease mondo MESH:C565869|OMIM:212850|UMLS:C1859304 MESH:C565869|http://identifiers.org/omim/212850|UMLS:C1859304 http://purl.obolibrary.org/obo/MONDO_0008936 cerebellar ataxia and neurosensory deafness MONDO:0008935 cerebellar ataxia-hypogonadism syndrome biolink:Disease mondo Orphanet:1173|MESH:C565870|GARD:0003314|ICD10:G11.8|OMIM:212840|UMLS:C1859305 Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. MESH:C565870|http://identifiers.org/omim/212840|UMLS:C1859305|ORPHA:1173 http://purl.obolibrary.org/obo/MONDO_0008935 luteinizing hormone releasing hormone, deficiency of with ataxia|cerebellar ataxia and hypogonadotropic hypogonadism|cerebellar ataxia - hypogonadism|Gordon-Holmes syndrome|LHRH deficiency and ataxia|luteinizing hormone-releasing hormone deficiency with ataxia|Gordon Holmes syndrome; GDHS|Gordon Holmes syndrome|GDHS|luteinizing hormone-releasing hormone, deficiency of, with ataxia ordo_disease MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome biolink:Disease mondo OMIM:212835|UMLS:C1859306|MESH:C535350|Orphanet:1174|GARD:0001189|SCTID:715371006|ICD10:G11.1 Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. MESH:C535350|http://identifiers.org/omim/212835|SNOMEDCT:715371006|UMLS:C1859306|ORPHA:1174 http://purl.obolibrary.org/obo/MONDO_0008934 ectodermal dysplasia and cerebellar ataxia|cerebellar ataxia - ectodermal dysplasia|cerebellar ataxia ectodermal dysplasia|cerebellar ataxia and ectodermal dysplasia ordo_malformation_syndrome MONDO:0008933 cephalin lipidosis biolink:Disease mondo MESH:C565872|OMIM:212800|UMLS:C1859307 MESH:C565872|http://identifiers.org/omim/212800|UMLS:C1859307 http://purl.obolibrary.org/obo/MONDO_0008933 cephalin lipidosis MONDO:0008932 PCD biolink:Disease mondo OMIM:212790|UMLS:C1859308 http://identifiers.org/omim/212790|UMLS:C1859308 http://purl.obolibrary.org/obo/MONDO_0008932 premature centromere division; PCD|premature centromere division|PCD|X-chromosome centromere peculiarity MONDO:0008931 Cenani-Lenz syndactyly syndrome biolink:Disease mondo GARD:0005084|UMLS:C1859309|OMIM:212780|Orphanet:3258|SCTID:720633009|DOID:0090015|MESH:C538150|ICD10:Q78.4 Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. DOID:0090015|SNOMEDCT:720633009|http://identifiers.org/omim/212780|UMLS:C1859309|ORPHA:3258|MESH:C538150 http://purl.obolibrary.org/obo/MONDO_0008931 syndactyly, type 7|Cenani syndactyly|Cenani-Lenz type syndactyly|Cenani-Lenz syndactyly syndrome|Cenani-Lenz syndactyly syndrome; CLSS|syndactyly Cenani Lenz type|Cenani-Lenz syndactyly|Cenani-Lenz syndrome|Cenani syndactylism|syndactyly type 7|CLSS ordo_malformation_syndrome MONDO:0008930 celiac disease, susceptibility to, 1 biolink:Disease mondo OMIM:212750 http://identifiers.org/omim/212750 http://purl.obolibrary.org/obo/MONDO_0008930 celiac sprue, susceptibility to, 1|celiac disease, susceptibility to, type 1|gluten-sensitive enteropathy, susceptibility to, 1|CELIAC1|susceptibility to celiac disease 1|celiac disease, susceptibility to, 1|celiac disease, susceptibility to, 1; CELIAC1 predisposition NCBITaxon:9922 Capra organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9922 NCBITaxon:9925 Capra hircus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9925 domestic goat|goat|goats|Capra hircus Linnaeus, 1758|Capra aegagrus hircus MONDO:0021907 aplasia cutis autosomal recessive biolink:Disease mondo GARD:0000749 Aplasia cutis with autosomal recessive inheritance. http://purl.obolibrary.org/obo/MONDO_0021907 gard_rare MONDO:0021908 aplasia cutis congenita dominant biolink:Disease mondo GARD:0000751 Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance. http://purl.obolibrary.org/obo/MONDO_0021908 gard_rare MONDO:0021909 obsolete aplasia cutis congenita recessive biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021909 HGNC:1366 ADAMTS13 biolink:OntologyClass mondo http://identifiers.org/hgnc/1366 CHEBI:22723 benzoic acids biolink:ChemicalSubstance mondo Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group. http://purl.obolibrary.org/obo/CHEBI_22723 MONDO:0021902 aortopulmonary window biolink:Disease mondo SCTID:17024001|MESH:D001028|GARD:0000745|HP:0011604|NCIT:C101050 A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery. MESH:D001028|SNOMEDCT:17024001|NCIT:C101050 http://purl.obolibrary.org/obo/MONDO_0021902 aortopulmonary septal defect|APW|aortic-pulmonary window|AP window|aorto-pulmonary window|aortopulmonary window|APSD gard_rare HGNC:1362 FRRS1L biolink:OntologyClass mondo http://identifiers.org/hgnc/1362 MONDO:0008929 cataract-intellectual disability-hypogonadism syndrome biolink:Disease mondo Orphanet:1387|GARD:0003406|SCTID:722380003|MESH:C536028|ICD10:Q87.8|OMIM:212720|UMLS:C0796037 This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. MESH:C536028|ORPHA:1387|SNOMEDCT:722380003|http://identifiers.org/omim/212720|UMLS:C0796037 http://purl.obolibrary.org/obo/MONDO_0008929 Martsolf syndrome|cataract-intellectual disability-hypogonadism|cataract-mental retardation-hypogonadism|MARTSOLF syndrome ordo_malformation_syndrome MONDO:0021905 apert-like polydactyly syndrome biolink:Disease mondo GARD:0000746 http://purl.obolibrary.org/obo/MONDO_0021905 apert like polydactyly syndrome gard_rare MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers biolink:Disease mondo UMLS:C1859259|OMIM:213820|MESH:C537370|GARD:0003812 http://identifiers.org/omim/213820|UMLS:C1859259|MESH:C537370 http://purl.obolibrary.org/obo/MONDO_0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers|Muller Barth Menger syndrome MONDO:0008948 cerebrotendinous xanthomatosis biolink:Disease mondo Orphanet:909|GARD:0005622|MESH:D019294|OMIM:213700|NCIT:C84628|UMLS:C0238052|SCTID:63246000|DOID:4810|ICD10:E75.5 Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. SNOMEDCT:63246000|ORPHA:909|DOID:4810|MESH:D019294|http://identifiers.org/omim/213700|NCIT:C84628|UMLS:C0238052 http://purl.obolibrary.org/obo/MONDO_0008948 CTx|sterol 27-hydroxylase deficiency|cerebral cholesterinosis|cerebrotendinous xanthomatosis; CTx|cerebrotendinous xanthomatosis|cholestanol storage disease ordo_disease|gard_rare MONDO:0033948 acquired angioedema with C1Inh deficiency biolink:Disease mondo Orphanet:528663 ORPHA:528663 http://purl.obolibrary.org/obo/MONDO_0033948 ordo_disease MONDO:0008947 bilateral striopallidodentate calcinosis biolink:Disease mondo SCTID:230311004|ICD9:348.89|DOID:0060230|OMIMPS:213600|UMLS:C0393589|HP:0002135|ICD10:G23.8|SCTID:110997000|MedDRA:10059626|MESH:C536275|ICD9:333.0|Orphanet:1980|UMLS:CN852731|NCIT:C129973 Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. NCIT:C129973|ORPHA:1980|MEDDRA:10059626|DOID:0060230|UMLS:C0393589|UMLS:CN852731|SNOMEDCT:110997000|SNOMEDCT:230311004|MESH:C536275 http://purl.obolibrary.org/obo/MONDO_0008947 basal ganglia calcification, idiopathic, 1|BSPDC|primary familial brain calcification|basal ganglia calcification|IBGC1|idiopathic basal ganglia calcification|basal ganglia calcification, idiopathic, type 1|basal ganglia degeneration with calcification|idiopathic basal ganglia calcification 1|Fahr disease|cerebrovascular ferrocalcinosis|PFBC|basal ganglia calcification, idiopathic ordo_disease MONDO:0033947 hereditary angioedema with normal C1Inh biolink:Disease mondo Orphanet:528647 ORPHA:528647 http://purl.obolibrary.org/obo/MONDO_0033947 ordo_disease MONDO:0033946 hereditary angioedema with C1Inh deficiency biolink:Disease mondo OMIM:106100|Orphanet:528623 Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. ORPHA:528623|http://identifiers.org/omim/106100 http://purl.obolibrary.org/obo/MONDO_0033946 angioedema, hereditary, type I; HAE1|angioedema, hereditary, type 2|angioedema, hereditary, type 1|angioedema, hereditary, type 1/2|HAE1|C1 esterase inhibitor, deficiency of|angioneurotic edema, hereditary|angioedema, hereditary, type I ordo_disease MONDO:0008946 cerebral angiopathy, dysphoric biolink:Disease mondo UMLS:C1859283|OMIM:213500|MESH:C565864 MESH:C565864|http://identifiers.org/omim/213500|UMLS:C1859283 http://purl.obolibrary.org/obo/MONDO_0008946 cerebral angiopathy, dysphoric MONDO:0008945 myoclonic cerebellar dyssynergia biolink:Disease mondo SCTID:73495003|EFO:1001053|OMIM:213400|MESH:D002527|UMLS:C0007761|DOID:12707|ICD10:G11.1 A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1) http://identifiers.org/omim/213400|UMLS:C0007761|DOID:12707|MESH:D002527|SNOMEDCT:73495003 http://purl.obolibrary.org/obo/MONDO_0008945 cerebelloparenchymal disorder V|CPD5|cerebelloparenchymal disorder V; CPD5|Spinodentate atrophy|dyssynergia cerebellaris myoclonica|Ramsay Hunt syndrome type 1|progressive cerebellar tremor|cerebelloparenchymal disorder type 5|cerebelloparenchymal disorder 5|Ramsay Hunt cerebellar syndrome|dyssynergia cerebellaris myoclonica of Hunt MONDO:0008944 Joubert syndrome 1 biolink:Disease mondo OMIM:213300|DOID:0110980|UMLS:CN119531 Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene. http://identifiers.org/omim/213300|DOID:0110980|UMLS:CN119531 http://purl.obolibrary.org/obo/MONDO_0008944 Joubert-Boltshauser syndrome|Joubert syndrome type 1|JBTS1|CORS1|cerebelloparenchymal disorder 4|CPD4|INPP5E Joubert syndrome|Joubert syndrome 1|Joubert syndrome|Joubert syndrome caused by mutation in INPP5E|cerebelloparenchymal disorder IV|Cerebellooculorenal syndrome 1|Joubert syndrome 1; JBTS1|cerebellooculorenal syndrome 1 MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 biolink:Disease mondo SCTID:715369006|DOID:0080061|GARD:0001199|ICD10:G11.0|MESH:C565865|OMIM:213200|UMLS:C1859298|Orphanet:1170 The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training. SNOMEDCT:715369006|MESH:C565865|UMLS:C1859298|DOID:0080061|ORPHA:1170|http://identifiers.org/omim/213200 http://purl.obolibrary.org/obo/MONDO_0008943 cerebellar granular cell hypoplasia and intellectual disability, congenital|CPDIII|autosomal recessive spinocerebellar ataxia type 2|PMPCA autosomal recessive congenital cerebellar ataxia|cerebellar hypoplasia, nonprogressive Norman type|SCAR2|autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA|autosomal recessive cerebelloparenchymal disorder type 3|cerebelloparenchymal disorder 3|CPD3|spinocerebellar ataxia, autosomal recessive 2|CPD 3|spinocerebellar ataxia, autosomal recessive 2; SCAR2|cerebellar granular cell hypoplasia and mental retardation, congenital ordo_disease MONDO:0008942 CPD2 biolink:Disease mondo MESH:C565866|UMLS:C1859299|OMIM:213100 UMLS:C1859299|http://identifiers.org/omim/213100|MESH:C565866 http://purl.obolibrary.org/obo/MONDO_0008942 cerebelloparenchymal disorder II|CPD, late-onset recessive type|CPD2|cerebelloparenchymal disorder II; CPD2 MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome biolink:Disease mondo GARD:0005177|Orphanet:2031|MESH:C565867|OMIM:213010 Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. ORPHA:2031|http://identifiers.org/omim/213010|MESH:C565867 http://purl.obolibrary.org/obo/MONDO_0008941 Thompson-Baraitser syndrome|Thompson Baraitser syndrome|cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome ordo_malformation_syndrome MONDO:0008940 endosteal sclerosis-cerebellar hypoplasia syndrome biolink:Disease mondo GARD:0001195|OMIM:213002|Orphanet:85186|ICD10:Q87.8|UMLS:C1859301|MESH:C535353 Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait. UMLS:C1859301|ORPHA:85186|http://identifiers.org/omim/213002|MESH:C535353 http://purl.obolibrary.org/obo/MONDO_0008940 cerebellar hypoplasia with endosteal sclerosis ordo_malformation_syndrome UBERON:0005563 trigeminal neural crest biolink:AnatomicalEntity mondo Cranial neural crest which gives rise to the trigeminal ganglion. http://purl.obolibrary.org/obo/UBERON_0005563 HGNC:1371 CA12 biolink:OntologyClass mondo http://identifiers.org/hgnc/1371 UBERON:0005562 thymus primordium biolink:AnatomicalEntity mondo A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. http://purl.obolibrary.org/obo/UBERON_0005562 thymic primordium|thymic rudiment HGNC:1377 CA5A biolink:OntologyClass mondo http://identifiers.org/hgnc/1377 FOODON:00002239 shrimp food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00002239 UBERON:0005568 rhombomere 1 roof plate biolink:AnatomicalEntity mondo A rhombomere roof plate that is part of a rhombomere 1. http://purl.obolibrary.org/obo/UBERON_0005568 roof plate rhombomere 1 UBERON:0005567 rhombomere 1 lateral wall biolink:AnatomicalEntity mondo A rhombomere lateral wall that is part of a rhombomere 1. http://purl.obolibrary.org/obo/UBERON_0005567 lateral wall rhombomere 1 HGNC:1375 CA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1375 UBERON:0005565 facio-acoustic neural crest biolink:AnatomicalEntity mondo Cranial neural crest that gives rise to the facio-acoustic ganglion. http://purl.obolibrary.org/obo/UBERON_0005565 facio acoustic neural crest HGNC:1373 CA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1373 UBERON:0005564 gonad primordium biolink:AnatomicalEntity mondo Portion of tissue that gives rise to the immature gonad. http://purl.obolibrary.org/obo/UBERON_0005564 undifferentiated gonad|gonadal primordium|immature gonad|primitive gonad|future gonad MONDO:0006338 obsolete ovarian germ cell tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006338 MONDO:0021971 obsolete Baraitser Rodeck garner syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021971 MONDO:0006339 ovarian microcystic stromal tumor biolink:Disease mondo UMLS:C4054287|NCIT:C121953|EFO:1000424 A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma. NCIT:C121953|UMLS:C4054287 http://purl.obolibrary.org/obo/MONDO_0006339 MONDO:0008999 Cohen syndrome biolink:Disease mondo MESH:C536438|SCTID:56604005|Orphanet:193|OMIM:216550|MedDRA:10049066|GARD:0006126|ICD9:759.89|ICD10:Q87.8|UMLS:C1854061 Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. SNOMEDCT:56604005|MEDDRA:10049066|http://identifiers.org/omim/216550|ORPHA:193|UMLS:C0265223|MESH:C536438|UMLS:C1854061 http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome; COH1|Chs1, formerly|Chs1|cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness|pepper syndrome|hypotonia, obesity, and prominent incisors|Coh|Cohen syndrome|COH1 clingen|gard_rare|ordo_malformation_syndrome MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation biolink:Disease mondo NCIT:C40061|EFO:1000417 An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance. NCIT:C40061 http://purl.obolibrary.org/obo/MONDO_0006336 ovarian adenosquamous carcinoma|ovarian endometrioid adenocarcinoma with squamous differentiation|ovarian adenoacanthoma MONDO:0008998 Cockayne syndrome type 3 biolink:Disease mondo GARD:0001417|Orphanet:90324|ICD10:Q87.8 Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood. ORPHA:90324|UMLS:C0751037 http://purl.obolibrary.org/obo/MONDO_0008998 Cockayne syndrome type 3|Cockayne syndrome type C|Cockayne syndrome, type III|Cockayne syndrome type III ordo_clinical_subtype MONDO:0006337 ovarian endometriosis biolink:Disease mondo ICD10:N80.1|NCIT:C27628|SCTID:266589005|COHD:199881|UMLS:C0156344|ICD9:617.1|EFO:1000418|DOID:11432 A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions. UMLS:C0156344|SNOMEDCT:266589005|NCIT:C27628|DOID:11432 http://purl.obolibrary.org/obo/MONDO_0006337 ovary endometriosis (disease)|endometriosis (disease) of ovary|endometriosis of ovary|ovarian endometriosis MONDO:0008997 obsolete Cockayne syndrome A biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008997 MONDO:0006334 obsolete ovarian embryonal carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006334 MONDO:0008996 Joubert syndrome with hepatic defect biolink:Disease mondo Orphanet:1454|OMIM:216360|ICD10:Q04.3|SCTID:721847002|GARD:0001410|UMLS:C1857662|MESH:C536430 Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). SNOMEDCT:721847002|http://identifiers.org/omim/216360|ORPHA:1454|UMLS:C1857662|MESH:C536430 http://purl.obolibrary.org/obo/MONDO_0008996 cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis|JS-H|gentile syndrome|Joubert syndrome with congenital hepatic fibrosis|coach syndrome|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis ordo_disease MONDO:0006335 ovarian endometrioid adenocarcinoma biolink:Disease mondo ONCOTREE:EOV|ICD10:C56|Orphanet:454723|UMLS:C0346163|NCIT:C7979|SCTID:254852002|EFO:1000416|DOID:5828 An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma. SNOMEDCT:254852002|ORPHA:454723|DOID:5828|NCIT:C7979|UMLS:C0346163 http://purl.obolibrary.org/obo/MONDO_0006335 ovarian endometrioid adenocarcinoma|endometrioid carcinoma of the ovary|endometrium adenocarcinoma of ovary|endometrioid ovary carcinoma|endometrioid carcinoma ovary|ovarian endometrioid adenocarcinoma not otherwise specified|endometrioid adenocarcinoma of the ovary|endometrioid adenocarcinoma of ovary|endometrioid carcinoma of ovary|endometrioid cancer of the ovary|endometrioid ovarian cancer|ovarian endometrioid adenocarcinoma NOS|ovarian endometrioid cancer|ovary endometrium adenocarcinoma|endometrioid cancer of ovary|ovarian endometrioid carcinoma ordo_disease MONDO:0008995 Yunis-Varon syndrome biolink:Disease mondo UMLS:C1857663|OMIM:216340|DOID:0060589|MESH:C536719|GARD:0000331|Orphanet:3472|ICD10:Q87.8 Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. http://identifiers.org/omim/216340|UMLS:C1857663|MESH:C536719|DOID:0060589|ORPHA:3472 http://purl.obolibrary.org/obo/MONDO_0008995 cleidocranial dysplasia-micrognathia-absent thumbs syndrome|cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia|Yunis-Varon syndrome; YVS|cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia|Yunis-Varón syndrome|cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|Yunis Varon syndrome|Yunis-Varon syndrome|YVS gard_rare|ordo_malformation_syndrome NCBITaxon:9989 Rodentia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9989 rodent|rodents MONDO:0006332 obsolete ovarian choriocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006332 MONDO:0008994 cleidocranial dysplasia, recessive form biolink:Disease mondo GARD:0010623|MESH:C565843|OMIM:216330|UMLS:C1859080 http://identifiers.org/omim/216330|MESH:C565843|UMLS:C1859080 http://purl.obolibrary.org/obo/MONDO_0008994 cleidocranial dysplasia recessive form|autosomal recessive form of cleidocranial dysostosis|cleidocranial dysplasia, recessive form gard_rare MONDO:0006333 obsolete ovarian dysgerminoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006333 MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome biolink:Disease mondo UMLS:C1859081|ICD10:Q87.8|OMIM:216300|GARD:0001393|Orphanet:2010|MESH:C565844 Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971. http://identifiers.org/omim/216300|MESH:C565844|UMLS:C1859081|ORPHA:2010 http://purl.obolibrary.org/obo/MONDO_0008993 cleft palate, deafness, and oligodontia|cleft palate stapes fixation oligodontia ordo_malformation_syndrome|gard_rare MONDO:0006330 ossifying fibromyxoid tumor biolink:Disease mondo ICDO:8842/0|DOID:2685|NCIT:C6582|SCTID:404076001|EFO:1000408|ONCOTREE:OFMT|UMLS:C1266128 A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. UMLS:C1266128|DOID:2685|NCIT:C6582|SNOMEDCT:404076001 http://purl.obolibrary.org/obo/MONDO_0006330 OFMT|ossifying fibromyxoid tumor (morphologic abnormality)|ossifying fibromyxoid neoplasm|ossifying fibromyxoma MONDO:0008992 Juberg-Hayward syndrome biolink:Disease mondo GARD:0003060|UMLS:C0796099|OMIM:216100|SCTID:721874001|ICD10:Q87.0|MESH:C537690|Orphanet:2319 Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. MESH:C537690|SNOMEDCT:721874001|UMLS:C0796099|http://identifiers.org/omim/216100|ORPHA:2319 http://purl.obolibrary.org/obo/MONDO_0008992 JHS|cleft LIP/palate with abnormal thumbs and microcephaly|Juberg-Hayward syndrome|cleft lip/palate-abnormal thumbs-microcephaly syndrome|Orocraniodigital syndrome gard_rare|ordo_malformation_syndrome MONDO:0006331 obsolete ovarian carcinosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006331 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome biolink:Disease mondo Orphanet:3429|MESH:C536541|UMLS:C1859082|ICD10:Q87.8|GARD:0005482|OMIM:215850|SCTID:764697003 Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. SNOMEDCT:764697003|MESH:C536541|http://identifiers.org/omim/215850|UMLS:C1859082|ORPHA:3429 http://purl.obolibrary.org/obo/MONDO_0008991 cleft-limb-heart malformation syndrome syndrome|Verloove Vanhorick Brubakk syndrome|cleft-limb-heart malformation syndrome|cleft lip-limb and heart malformations syndrome|Clh syndrome|cleft limb heart malformation syndrome gard_rare|ordo_malformation_syndrome MONDO:0008990 cleft larynx, posterior biolink:Disease mondo GARD:0004015|OMIM:215800|Orphanet:2005 http://identifiers.org/omim/215800|ORPHA:2005 http://purl.obolibrary.org/obo/MONDO_0008990 cleft larynx, posterior|Novak syndrome|laryngotracheoesophageal cleft pulmonary hypoplasia|stridor, congenital gard_rare HGNC:1382 CA8 biolink:OntologyClass mondo http://identifiers.org/hgnc/1382 HP:0003027 Mesomelia biolink:PhenotypicFeature mondo UMLS:C0549306 Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. http://purl.obolibrary.org/obo/HP_0003027 Mesomelic shortening of limbs|Mesomelic limb shortening|Symmetric mesomelic limb shortness|Disproportionately short middle portion of limb FOODON:00002244 snail food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00002244 MONDO:0018327 glomus tumor biolink:Disease mondo ICDO:8711/0|Orphanet:391651|ICD9:239.7|SCTID:403969002|MESH:D005918|NCIT:C3060|DOID:2431|UMLS:C0017653|ICD10:D18.0 A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities. ORPHA:391651|DOID:2431|SNOMEDCT:403969002|NCIT:C3060|MESH:D005918|UMLS:C0017653 http://purl.obolibrary.org/obo/MONDO_0018327 glomus neoplasm|glomus tumor|glomus tumour ordo_disease MONDO:0018326 transient neonatal myasthenia gravis biolink:Disease mondo Orphanet:391504|ICD10:P94.0|UMLS:C0495465|NCIT:C117308 Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies. UMLS:C0495465|NCIT:C117308|ORPHA:391504 http://purl.obolibrary.org/obo/MONDO_0018326 NMG|transient neonatal acquired myasthenia|transient neonatal autoimmune myasthenia gravis|neonatal myasthenia gravis ordo_clinical_subtype MONDO:0018329 persistent combined dystonia biolink:Disease mondo ICD10:G24.1|Orphanet:391711 ORPHA:391711 http://purl.obolibrary.org/obo/MONDO_0018329 ordo_group_of_disorders MONDO:0018328 homozygous familial hypercholesterolemia biolink:Disease mondo Orphanet:391665|ICD10:E78.0|SCTID:238078005 ORPHA:391665|SNOMEDCT:238078005 http://purl.obolibrary.org/obo/MONDO_0018328 HoFH ordo_disease MONDO:0021964 bagatelle Cassidy syndrome biolink:Disease mondo GARD:0000398|UMLS:C2931616|MESH:C537796 MESH:C537796|UMLS:C2931616 http://purl.obolibrary.org/obo/MONDO_0021964 macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay|macrocephaly short limbs deafness gard_rare MONDO:0018323 HSD10 disease, neonatal type biolink:Disease mondo ICD10:E72.8|UMLS:CN204975|Orphanet:391457 HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. ORPHA:391457|UMLS:CN204975 http://purl.obolibrary.org/obo/MONDO_0018323 HSD10 deficiency, neonatal type|2-methyl-3-hydroxybutyric aciduria, neonatal type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type|MHBD deficiency, neonatal type ordo_clinical_subtype MONDO:0018322 HSD10 disease, infantile type biolink:Disease mondo UMLS:CN204974|ICD10:E72.8|Orphanet:391428 HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age. ORPHA:391428|UMLS:CN204974 http://purl.obolibrary.org/obo/MONDO_0018322 2-methyl-3-hydroxybutyric aciduria, infantile type|HSD10 deficiency, infantile type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type|HSD10 disease, classic type|2-methyl-3-hydroxybutyric aciduria, classic type|MHBD deficiency, infantile type|HSD10 deficiency, classic type|MHBD deficiency, classic type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type ordo_clinical_subtype MONDO:0018325 juvenile myasthenia gravis biolink:Disease mondo Orphanet:391497|ICD10:G70.0 Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age. ORPHA:391497 http://purl.obolibrary.org/obo/MONDO_0018325 myasthenia gravis of childhood|pediatric myasthenia gravis|pediatric myasthenia gravis|juvenile autoimmune myasthenia gravis|juvenile acquired myasthenia|childhood myasthenia gravis ordo_clinical_subtype MONDO:0021966 baker Vinters syndrome biolink:Disease mondo MESH:C537899|GARD:0000808|UMLS:C2931659 A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. MESH:C537899|UMLS:C2931659 http://purl.obolibrary.org/obo/MONDO_0021966 hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies n_of_one|gard_rare HGNC:1388 CACNA1A biolink:OntologyClass mondo http://identifiers.org/hgnc/1388 MONDO:0018324 adult-onset myasthenia gravis biolink:Disease mondo ICD10:G70.0|Orphanet:391490 Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma. ORPHA:391490 http://purl.obolibrary.org/obo/MONDO_0018324 adult-onset acquired myasthenia|adult-onset autoimmune myasthenia gravis ordo_clinical_subtype HGNC:1389 CACNA1B biolink:OntologyClass mondo http://identifiers.org/hgnc/1389 HGNC:1386 CABP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1386 MONDO:0021969 Banti syndrome biolink:Disease mondo MESH:C537903|GARD:0005888 A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages. MESH:C537903 http://purl.obolibrary.org/obo/MONDO_0021969 idiopathic congestive splenomegaly|Banti's disease|idiopathic portal hypertension|Banti's syndrome gard_rare MONDO:0018321 atypical juvenile parkinsonism biolink:Disease mondo ICD10:G20|UMLS:CN204972|SCTID:725146001|UMLS:C4510873|Orphanet:391411 Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. ORPHA:391411|SNOMEDCT:725146001|UMLS:CN204972|UMLS:C4510873 http://purl.obolibrary.org/obo/MONDO_0018321 ordo_disease MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome biolink:Disease mondo Orphanet:391408|ICD10:Q87.8|UMLS:CN204971 ORPHA:391408|UMLS:CN204971 http://purl.obolibrary.org/obo/MONDO_0018320 ordo_disease HGNC:1385 CABP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1385 MONDO:0021960 ureteritis biolink:Disease mondo NCIT:C78666|UMLS:C0041959|SCTID:111405003 An acute or chronic inflammatory process affecting the ureter. UMLS:C0041959|SNOMEDCT:111405003|NCIT:C78666 http://purl.obolibrary.org/obo/MONDO_0021960 Ureteritis|Inflammation of ureter|ureteritis MONDO:0006349 papillary cystic neoplasm biolink:Disease mondo NCIT:C4179|UMLS:C0334357|EFO:1000448 A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures. NCIT:C4179|UMLS:C0334357 http://purl.obolibrary.org/obo/MONDO_0006349 papillary cystic neoplasm|papillary cystic tumor MONDO:0006347 pancreatic large cell neuroendocrine carcinoma biolink:Disease mondo NCIT:C95582|EFO:1000442|UMLS:C2987239 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells. NCIT:C95582|UMLS:C2987239 http://purl.obolibrary.org/obo/MONDO_0006347 pancreatic large cell NEC|large cell neuroendocrine carcinoma of pancreas|pancreas large cell neuroendocrine carcinoma|pancreatic large cell neuroendocrine carcinoma|pancreatic large cell NEC G3 MONDO:0021962 baetz-greenwalt syndrome biolink:Disease mondo MESH:C537795|GARD:0009216|UMLS:C2931615 UMLS:C2931615|MESH:C537795 http://purl.obolibrary.org/obo/MONDO_0021962 hypoplastic right-sided heart complex gard_rare MONDO:0006348 pancreatic small cell neuroendocrine carcinoma biolink:Disease mondo EFO:1000444|UMLS:C2987240|NCIT:C95583 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells. NCIT:C95583|UMLS:C2987240 http://purl.obolibrary.org/obo/MONDO_0006348 pancreatic small cell neuroendocrine carcinoma|pancreatic small cell NEC G3|small cell carcinoma of endocrine pancreas|endocrine pancreas small cell carcinoma|pancreatic small cell NEC MONDO:0006345 palmar fibromatosis biolink:Disease mondo SCTID:203045001|EFO:0004229|NCIT:C3469|HP:0005679|EFO:1000438|MESH:D004387 A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males. MESH:D004387|SNOMEDCT:203045001|NCIT:C3469 http://purl.obolibrary.org/obo/MONDO_0006345 palmar fibromatosis|Dupuytren contracture (disease)|Dupuytren contracture|Dupuytren's contracture|Dupuytren contracture|palmar part of manus fibromatosis MONDO:0006346 pancreatic acinar cell carcinoma biolink:Disease mondo UMLS:C0279661|ICD10:C25.8|DOID:5742|ICD10:C25.7|ONCOTREE:PAAC|EFO:1000439|ICD10:C25.2|Orphanet:424046|ICD10:C25.1|NCIT:C7977|ICD10:C25.0 An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis. ORPHA:424046|UMLS:C0279661|DOID:5742|NCIT:C7977 http://purl.obolibrary.org/obo/MONDO_0006346 carcinoma of pancreatic acinar cell|acinar cell carcinoma of the pancreas|pancreatic acinar cell carcinoma|pancreas acinar cell adenocarcinoma|pancreatic acinar cell adenocarcinoma|acinar cell adenocarcinoma of pancreas|acinar cell adenocarcinoma of the pancreas|PAAC|acinar cell carcinoma of pancreas|Pancreatic acinar cell cancer ordo_disease MONDO:0006343 ovarian transitional cell carcinoma biolink:Disease mondo UMLS:C1335184|NCIT:C5240|DOID:4000|EFO:1000435 A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present. DOID:4000|NCIT:C5240|UMLS:C1335184 http://purl.obolibrary.org/obo/MONDO_0006343 transitional cell carcinoma of ovary|ovary transitional cell carcinoma|ovarian transitional cell carcinoma|malignant ovarian transitional cell neoplasm|ovarian transitional cell cancer|transitional cell carcinoma of the ovary|ovarian transitional cell neoplasm MONDO:0006344 ovarian yolk sac tumor biolink:Disease mondo UMLS:C0346188|NCIT:C8107|SCTID:254876005|EFO:1000437|DOID:5350|ONCOTREE:OYST A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular. DOID:5350|SNOMEDCT:254876005|NCIT:C8107|UMLS:C0346188 http://purl.obolibrary.org/obo/MONDO_0006344 ovarian yolk Sac neoplasm|yolk Sac neoplasm of ovary|ovarian yolk sac tumor|germ cell endodermal sinus neoplasm of the ovary|endodermal sinus tumor of the ovary|ovarian germ cell endodermal sinus tumor|germ cell endodermal sinus neoplasm of ovary|endodermal sinus tumor of ovary|ovarian endodermal sinus neoplasm|endodermal sinus neoplasm of the ovary|ovary yolk sac tumor|ovarian endodermal sinus tumor|germ cell endodermal sinus tumor of the ovary|endodermal sinus neoplasm of ovary|yolk sac tumor|germ cell endodermal sinus tumor of ovary|yolk Sac tumor of the ovary|yolk Sac tumor of ovary|ovarian germ cell endodermal sinus neoplasm|yolk Sac neoplasm of the ovary MONDO:0006341 obsolete ovarian small cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006341 MONDO:0006342 obsolete ovarian squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006342 MONDO:0006340 ovarian serous adenofibroma biolink:Disease mondo UMLS:C1518729|DOID:5474|NCIT:C40031|EFO:1000428 A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma. DOID:5474|UMLS:C1518729|NCIT:C40031 http://purl.obolibrary.org/obo/MONDO_0006340 ovary serous adenofibroma|serous adenofibroma of ovary|ovarian serous adenofibroma HGNC:1393 CACNA1F biolink:OntologyClass mondo http://identifiers.org/hgnc/1393 MONDO:0018319 familial episodic pain syndrome biolink:Disease mondo ICD10:M79.6|UMLS:CN228162|UMLS:CN204967|Orphanet:391384|OMIMPS:615040|GARD:0012684 UMLS:CN228162|UMLS:CN204967|ORPHA:391384 http://purl.obolibrary.org/obo/MONDO_0018319 FEPS gard_rare|ordo_disease HGNC:1394 CACNA1G biolink:OntologyClass mondo http://identifiers.org/hgnc/1394 HGNC:1391 CACNA1D biolink:OntologyClass mondo http://identifiers.org/hgnc/1391 MONDO:0018316 fatal post-viral neurodegenerative disorder biolink:Disease mondo Orphanet:391343|ICD10:G04.8|UMLS:CN204961 UMLS:CN204961|ORPHA:391343 http://purl.obolibrary.org/obo/MONDO_0018316 ordo_disease HGNC:1390 CACNA1C biolink:OntologyClass mondo http://identifiers.org/hgnc/1390 MONDO:0018315 X-linked osteoporosis with fractures biolink:Disease mondo Orphanet:391330|ICD10:M80.5 ORPHA:391330 http://purl.obolibrary.org/obo/MONDO_0018315 ordo_disease MONDO:0018318 disorder of asparagine metabolism biolink:Disease mondo Orphanet:391381|UMLS:CN227320 UMLS:CN227320|ORPHA:391381 http://purl.obolibrary.org/obo/MONDO_0018318 ordo_group_of_disorders MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome biolink:Disease mondo Orphanet:391366|UMLS:CN204964 UMLS:CN204964|ORPHA:391366 http://purl.obolibrary.org/obo/MONDO_0018317 ordo_disease MONDO:0018312 histoplasmosis biolink:Disease mondo ICD9:115|ICD10:B39.9|UMLS:C0019655|ICD10:B39.5|SCTID:12962009|MedDRA:10021808|Orphanet:390|ICD10:B39.4|MedDRA:10020141|DOID:1731|ICD10:B39.3|ICD9:115.9|ICD10:B39.2|ICD9:115.99|ICD10:B39.1|ICD10:B39.0|NCIT:C77201|ICD9:115.90|COHD:433134|EFO:0007310|ICD10:B39|MESH:D006660 A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated. NCIT:C77201|ORPHA:390|MEDDRA:10020141|MEDDRA:10021808|MESH:D006660|UMLS:C0019655|SNOMEDCT:12962009|UMLS:C0153261|DOID:1731 http://purl.obolibrary.org/obo/MONDO_0018312 Histoplasma infectious disease|Histoplasma caused disease or disorder|darling disease|Histoplasma disease or disorder ordo_disease MONDO:0021953 tuberculous fibrosis of lung biolink:Disease mondo ICD9:011.40|NCIT:C35088|UMLS:C0041336|SCTID:90117007|ICD9:011.46|ICD9:011.44|ICD9:011.43|ICD9:011.42|ICD9:011.41 Scarring of the lung parenchyma caused by pulmonary tuberculosis. UMLS:C0041336|SNOMEDCT:90117007|NCIT:C35088 http://purl.obolibrary.org/obo/MONDO_0021953 tuberculous fibrosis of lung|Tuberculous fibrosis of lung|Tuberculous Fibrosis of Lung MONDO:0018311 acromelanosis biolink:Disease mondo Orphanet:39|GARD:0004500|ICD9:709.09|SCTID:239089006|ICD10:L81.4 Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life. UMLS:C0406779|ORPHA:39|SNOMEDCT:239089006 http://purl.obolibrary.org/obo/MONDO_0018311 progressive acromelanosis gard_rare|ordo_disease MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression biolink:Disease mondo UMLS:CN204956|ICD10:G40.2|Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities. UMLS:CN204956|ORPHA:391316 http://purl.obolibrary.org/obo/MONDO_0018314 ordo_disease CHEBI:22712 benzenes biolink:ChemicalSubstance mondo Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives. http://purl.obolibrary.org/obo/CHEBI_22712 MONDO:0018313 obsolete uveal melanoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018313 MONDO:0021957 autosomal recessive nonsyndromic congenital nuclear cataract biolink:Disease mondo GARD:0009492|UMLS:C2931470|MESH:C537298 MESH:C537298|UMLS:C2931470 http://purl.obolibrary.org/obo/MONDO_0021957 congenital nuclear cataract, autosomal recessive gard_rare HGNC:1397 CACNA1S biolink:OntologyClass mondo http://identifiers.org/hgnc/1397 CHEBI:22718 benzoates biolink:ChemicalSubstance mondo A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid. http://purl.obolibrary.org/obo/CHEBI_22718 benzoate anion MONDO:0018310 Langerhans cell histiocytosis biolink:Disease mondo ICDO:9751/1|UMLS:C0432554|ICD9:277.89|MedDRA:10069698|UMLS:C0432553|ICD9:202.5|UMLS:C0432552|UMLS:C0019621|UMLS:C0432551|UMLS:C0432550|OMIM:604856|GARD:0006858|NCIT:C3107|ICD10:C96.6|Orphanet:389|DOID:2571|ICD10:C96.5|COHD:4278365|ICDO:9754/3|ONCOTREE:LCH|EFO:1000318|UMLS:C0432549|SCTID:65399007|UMLS:C0432548|ICDO:9753/1|ICDO:9751/3|UMLS:C0432547|ICDO:9752/1|ICD10:C96.0 Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues. SNOMEDCT:65399007|ORPHA:389|UMLS:C0432549|UMLS:C0432547|UMLS:C0432548|UMLS:C0432552|UMLS:C0432553|UMLS:C0432550|UMLS:C0432551|UMLS:C0432554|MESH:D006646|DOID:2571|UMLS:C0019621|MEDDRA:10069698|http://identifiers.org/omim/604856|NCIT:C3107 http://purl.obolibrary.org/obo/MONDO_0018310 letterer-Siwe disease of lymph nodes of head, face and/or neck|letterer-Siwe disease involving intrapelvic lymph nodes|Langerhans cell histiocytosis, NOS|letterer-Siwe disease involving lymph nodes of axilla and upper limb|letterer-Siwe disease involving lymph nodes of head, face, and neck|letterer-Siwe disease of lymph nodes of axilla and/or upper limb|letterer-Siwe disease of spleen|letterer-Siwe disease involving lymph nodes of multiple sites|letterer-Siwe disease involving lymph nodes of head, face and neck|Langerhan's cell histiocytosis|letterer-Siwe disease involving lymph nodes of inguinal region and lower limb|letterer-Siwe disease involving intra-abdominal lymph nodes|histiocytosis X|letterer-Siwe disease involving intrathoracic lymph nodes|letterer-Siwe disease of intrapelvic lymph nodes|letterer-Siwe disease of lymph nodes of multiple sites|letterer-Siwe disease involving spleen|letterer-Siwe disease of lymph nodes of axilla and upper limb|letterer-Siwe disease|letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb|Langerhans cell histiocytosis, Not otherwise specified|letterer-Siwe disease of lymph nodes of inguinal region and lower limb|letterer-Siwe disease of lymph nodes of head, face and neck|letterer-Siwe disease of intra-abdominal lymph nodes|letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb|LCH|Langerhans cell granulomatosis|letterer-Siwe disease of intrathoracic lymph nodes|Lch|Langerhans-cell histiocytosis|Langerhans cell histiocytosis ordo_group_of_disorders HGNC:1395 CACNA1H biolink:OntologyClass mondo http://identifiers.org/hgnc/1395 MONDO:0006318 obsolete nevus of Ito biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006318 MONDO:0006319 obsolete nevus of Ota biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006319 MONDO:0006316 neuroblastic tumor biolink:Disease mondo NCIT:C6963|EFO:1000393|UMLS:C1334953 A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells. NCIT:C6963|UMLS:C1334953 http://purl.obolibrary.org/obo/MONDO_0006316 neuroblastic tumor MONDO:0008979 chorea, benign familial biolink:Disease mondo UMLS:C1859098|GARD:0001305|MESH:C565851|OMIM:215450 Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion. UMLS:C1859098|http://identifiers.org/omim/215450|MESH:C565851 http://purl.obolibrary.org/obo/MONDO_0008979 benign hereditary chorea|chorea, benign familial|chorea familial benign gard_rare MONDO:0006317 neurothekeoma biolink:Disease mondo NCIT:C7018|ICDO:9562/0|UMLS:C0206730|EFO:1000394|MESH:D018321 A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma. MESH:D018321|NCIT:C7018|UMLS:C0206730 http://purl.obolibrary.org/obo/MONDO_0006317 nerve sheath Myxoma|neurothekeoma MONDO:0008978 chordoma (disease) biolink:Disease mondo ONCOTREE:CHDM|OMIM:215400|MESH:D002817|ICD10:C76.7|NCIT:C2947|MedDRA:10008747|Orphanet:178|DOID:3302|UMLS:C0008487|HP:0010762|GARD:0001303|ICDO:9370/3 Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. MEDDRA:10008747|MESH:D002817|NCIT:C2947|ORPHA:178|http://identifiers.org/omim/215400|UMLS:C0008487|DOID:3302 http://purl.obolibrary.org/obo/MONDO_0008978 chordoma|chordoma, susceptibility to|CHDM|chordoma, malignant|notochordal sarcoma|notochordoma|chordoma, susceptibility to; CHDM|susceptibility to chordoma ordo_disease MONDO:0021950 autoimmune oophoritis biolink:Disease mondo MESH:C538274|UMLS:C0878654|GARD:0009461 Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions. UMLS:C0878654|MESH:C538274 http://purl.obolibrary.org/obo/MONDO_0021950 gard_rare MONDO:0006314 nasal cavity polyp biolink:Disease mondo EFO:1000391|MESH:D009298|UMLS:C0027430|ICD9:471.0|COHD:253788|NCIT:C3256|SCTID:52756005|ICD9:471.9 A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection. NCIT:C3256|UMLS:C0027430|MESH:D009298|SNOMEDCT:52756005 http://purl.obolibrary.org/obo/MONDO_0006314 nasal polyp|polyp of nasal cavity|polyp of the nasal cavity|nasal cavity polyp MONDO:0008977 chondrosarcoma (disease) biolink:Disease mondo HP:0006765|ONCOTREE:CHS|MESH:D002813|SCTID:443520009|ICD9:170.9|Orphanet:55880|EFO:0000333|GARD:0006055|MedDRA:10008734|ICDO:9220/3|DOID:3371|OMIM:215300|UMLS:C0008479|NCIT:C2946|ICD10:C49.9 A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. MEDDRA:10008734|SNOMEDCT:443520009|MESH:D002813|NCIT:C2946|http://identifiers.org/omim/215300|UMLS:C0008479|DOID:3371|ORPHA:55880 http://purl.obolibrary.org/obo/MONDO_0008977 chondrosarcoma|chondrosarcoma, malignant|primary chondrosarcoma of the bone|chondrosarcoma of bone ordo_disease MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome biolink:Disease mondo OMIM:215250|UMLS:C1859104|MESH:C565852 UMLS:C1859104|http://identifiers.org/omim/215250|MESH:C565852 http://purl.obolibrary.org/obo/MONDO_0008976 chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm biolink:Disease mondo NCIT:C37005|EFO:1000392 NCIT:C37005 http://purl.obolibrary.org/obo/MONDO_0006315 MONDO:0021952 autoimmune progesterone dermatitis biolink:Disease mondo UMLS:C1260879|MESH:C535299|SCTID:400009001|GARD:0009139|ICD9:708.8 Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries. MESH:C535299|SNOMEDCT:400009001|UMLS:C1260879 http://purl.obolibrary.org/obo/MONDO_0021952 autoimmune progesterone urticaria|APD|autoimmune progesterone dermatitis|autoimmune progesterone dermatitis/urticaria|progesterone dermatitis gard_rare MONDO:0006312 myofibroma biolink:Disease mondo NCIT:C7052|UMLS:C1266121|ONCOTREE:MF|EFO:1000389|MESH:D047708|ICDO:8824/0|DOID:4386 A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. UMLS:C1266121|NCIT:C7052|DOID:4386|MESH:D047708 http://purl.obolibrary.org/obo/MONDO_0006312 infantile hemangiopericytoma|myofibroma (morphologic abnormality)|lipoleiomyoma|myofibroma MONDO:0008975 otospondylomegaepiphyseal dysplasia biolink:Disease mondo Orphanet:1427|ICD10:Q77.7|SCTID:254060000|OMIMPS:184840|DOID:0080026|GARD:0004130|ICD9:759.89 Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. DOID:0080026|ORPHA:1427|SNOMEDCT:254060000 http://purl.obolibrary.org/obo/MONDO_0008975 chondrodystrophy with sensorineural deafness|OSMED|Nance-Sweeney chondrodysplasia|otospondylomegaepiphyseal dysplasia|otospondylomegaepiphyseal dysplasia; OSMED|Nance Sweeney chondrodysplasia|otospondylmegaepiphyseal dysplasia|oto-spondylo-mega-epiphyseal dysplasia|OSMED syndrome|Nance-Insley syndrome|Insley-Astley syndrome ordo_disease MONDO:0006313 nabothian cyst biolink:Disease mondo EFO:1000390|NCIT:C34835|SCTID:24565001|UMLS:C0027269|Wikipedia:Nabothian_cyst A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium. UMLS:C0027269|SNOMEDCT:24565001|NCIT:C34835 http://purl.obolibrary.org/obo/MONDO_0006313 MONDO:0008974 Greenberg dysplasia biolink:Disease mondo SCTID:389261002|UMLS:CN199524|Orphanet:1426|MESH:C535858|ICD10:Q77.3|OMIM:215140|UMLS:C2931048|GARD:0008754 A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable. SNOMEDCT:389261002|MESH:C537299|http://identifiers.org/omim/215140|ORPHA:1426|UMLS:C1300226|MESH:C535858|UMLS:CN199524|UMLS:C2931048 http://purl.obolibrary.org/obo/MONDO_0008974 skeletal dysplasia, Greenberg type|autosomal recessive lethal chondrodystrophy with congenital hydrops|GRBGD|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally lethal type|Greenberg skeletal dysplasia|Greenberg dysplasia; GRBGD|Greenberg dysplasia|hem|hem/Greenberg dysplasia|hem dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops, ectopic calcification, moth-eaten skeletal dysplasia gard_rare|ordo_disease MONDO:0008973 chondrodysplasia punctata, Toriello type biolink:Disease mondo OMIM:215105|Orphanet:79347|MESH:C565853|SCTID:715631005|ICD10:Q77.3 Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. http://identifiers.org/omim/215105|ORPHA:79347|MESH:C565853|SNOMEDCT:715631005 http://purl.obolibrary.org/obo/MONDO_0008973 chondrodysplasia punctata syndrome|Toriello-Higgins-Miller syndrome ordo_malformation_syndrome MONDO:0006310 obsolete mucinuos carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006310 MONDO:0006311 myelodysplastic/myeloproliferative Neoplasm biolink:Disease mondo ONCOTREE:MDS%2FMPN|NCIT:C27262|SCTID:445738007|EFO:1000388|DOID:4972|ICDO:9975/3 A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation. SNOMEDCT:445738007|DOID:4972|NCIT:C27262 http://purl.obolibrary.org/obo/MONDO_0006311 myelodysplastic/myeloproliferative diseases|myelodysplastic/myeloproliferative Neoplasm|MDS/MPN|myelodysplastic/myeloproliferative disorders|myeloproliferative/myelodysplastic disorders|MDS-MPD|MPD-MDS|myelodysplastic/myeloproliferative neoplasms|myelodysplastic/myeloproliferative disorder|myeloproliferative/myelodysplastic syndromes|MDS/MPD|MPD/MDS|myelodysplastic/myeloproliferative disease|myelodysplastic myeloproliferative disease|myelodysplastic myeloproliferative cancer MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 biolink:Disease mondo ICD10:Q77.3|UMLS:C1859133|OMIM:215100|Orphanet:309789|GARD:0006049|DOID:0110851 Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause. http://identifiers.org/omim/215100|DOID:0110851|ORPHA:309789|UMLS:C1859133 http://purl.obolibrary.org/obo/MONDO_0008972 chondrodysplasia punctata, rhizomelic form|rhizomelic chondrodysplasia punctata, type 1; RCDP1|rhizomelic chondrodysplasia punctata, type 1|Rcdp1|chondrodystrophia calcificans punctata|PEX7 rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata caused by mutation in PEX7|RCDP1|Pbd9|peroxisome biogenesis disorder 9 gard_rare|ordo_etiological_subtype MONDO:0008971 chondrodysplasia calcificans Metaphysealis biolink:Disease mondo GARD:0010613|MESH:C565855|UMLS:C1859147|OMIM:215050 http://identifiers.org/omim/215050|MESH:C565855|UMLS:C1859147 http://purl.obolibrary.org/obo/MONDO_0008971 chondrodysplasia calcificans Metaphysealis gard_rare MONDO:0008970 chondrodysplasia Blomstrand type biolink:Disease mondo Orphanet:50945|NCIT:C131420|OMIM:215045|DOID:0060387|UMLS:C1859148|ICD10:Q78.8|MESH:C537914|GARD:0000914 Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. ORPHA:50945|http://identifiers.org/omim/215045|MESH:C537914|NCIT:C131420|DOID:0060387|UMLS:C1859148 http://purl.obolibrary.org/obo/MONDO_0008970 BOCD|Blomstrand osteochondrodysplasia|Blomstrand type chondrodysplasia|chondrodysplasia, Blomstrand type|BLC|Blomstrand chondrodysplasia|chondrodysplasia, Blomstrand type; BOCD|Blomstrand lethal chondrodysplasia|Blomstrand lethal osteochondrodysplasia|Blomstrand's lethal chondrodysplasia ordo_malformation_syndrome|gard_rare MONDO:0018309 Hirschsprung disease biolink:Disease mondo GARD:0006660|UMLS:C0019569|DOID:10487|UMLS:C3661523|Orphanet:388|OMIMPS:142623|COHD:194149|MESH:D006627|NCIT:C34700|ICD10:Q43.1|SCTID:204739008|MedDRA:10010539 Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. UMLS:C3661523|MESH:D006627|DOID:10487|SNOMEDCT:204739008|ORPHA:388|MEDDRA:10010539|NCIT:C34700|UMLS:C0019569 http://purl.obolibrary.org/obo/MONDO_0018309 Hirschsprung's disease|total intestinal aganglionosis|congenital intestinal aganglionosis|HSCR|congenital megacolon|macrocolon|Hirschsprung disease|Hirschsprung disease susceptibility|pelvirectal achalasia|aganglionic megacolon ordo_disease MONDO:0018308 liver mesenchymal hamartoma biolink:Disease mondo SCTID:715397000|UMLS:C0334091|Orphanet:386|ICD10:D13.4|NCIT:C5751|UMLS:C1333971|GARD:0002651 A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good. SNOMEDCT:715397000|UMLS:C0334091|NCIT:C5751|UMLS:C1333971|ORPHA:386 http://purl.obolibrary.org/obo/MONDO_0018308 MHL|hepatic mesenchymal hamartoma|Von Meyenburg complexes disease|mesenchymal hamartoma of liver|VMC|liver mesenchymal hamartoma|hepatic cystic hamartoma|liver MH|mesenchymal hamartoma of the liver|biliary hamartoma ordo_disease|gard_rare MONDO:0018305 chronic granulomatous disease biolink:Disease mondo UMLS:C0018203|SCTID:387759001|MedDRA:10008906|GARD:0006100|NCIT:C26788|MESH:D006105|Orphanet:379|OMIMPS:306400|DOID:3265|ICD10:D71 Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. NCIT:C26788|MEDDRA:10008906|ORPHA:379|DOID:3265|MESH:D006105|SNOMEDCT:387759001|UMLS:C0018203 http://purl.obolibrary.org/obo/MONDO_0018305 granulomatous disease, chronic|CGD|chronic septic granulomatosis|Bridges-Good syndrome|Quie syndrome|congenital dysphagocytosis gard_rare|ordo_disease MONDO:0018304 Schnitzler syndrome biolink:Disease mondo ICD9:708.8|MESH:D019873|MedDRA:10062908|GARD:0012390|UMLS:C0524988|EFO:1001165|Orphanet:37748|DOID:4371|SCTID:402415001|ICD10:L50.8 Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. DOID:4371|UMLS:C0524988|ORPHA:37748|MEDDRA:10062908|MESH:D019873|SNOMEDCT:402415001 http://purl.obolibrary.org/obo/MONDO_0018304 chronic urticaria with gammapathy|chronic urticaria with gammopathy|chronic urticaria with macroglobulinemia ordo_malformation_syndrome|gard_rare MONDO:0018307 neurodegeneration with brain iron accumulation biolink:Disease mondo Orphanet:385|GARD:0011899|ICD10:G23.0|OMIMPS:234200|DC:0000320|DOID:0110734|MESH:C538421 Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. UMLS:C2931845|MESH:C538421|ORPHA:385|DOID:0110734 http://purl.obolibrary.org/obo/MONDO_0018307 NBIA ordo_group_of_disorders MONDO:0018306 Griscelli syndrome biolink:Disease mondo GARD:0010913|SCTID:37548006|UMLS:CN204933|DC:0000356|DOID:0060831|OMIMPS:214450|ICD9:270.2|ICD10:E70.3|Orphanet:381 Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3). DOID:0060831|SNOMEDCT:37548006|UMLS:CN204933|ORPHA:381 http://purl.obolibrary.org/obo/MONDO_0018306 Griscelli-Pruni��ras syndrome|Ch��diak-Higashi-like syndrome|Chédiak-Higashi-like syndrome|Griscelli-PruniC)ras syndrome|partial albinism-immunodeficiency syndrome|Griscelli-Pruniéras syndrome|Griscelli disease|ChC)diak-Higashi-like syndrome gard_rare|ordo_disease MONDO:0018301 interstitial cystitis biolink:Disease mondo UMLS:C0600040|ICD9:595.1|Orphanet:37202|UMLS:C1720830|MedDRA:10011796|SCTID:111409009|DOID:1678|UMLS:C0282488|DOID:13949|NCIT:C27189|COHD:75863|UMLS:CN204884|MESH:D018856|MedDRA:10008927|EFO:1000869|SCTID:197834003|ICD10:N30.1 Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. UMLS:C1720830|UMLS:CN204884|SNOMEDCT:197834003|MEDDRA:10011796|SNOMEDCT:111409009|UMLS:C0282488|UMLS:C0600040|ORPHA:37202|NCIT:C27189|DOID:13949|DOID:1678|MESH:D018856 http://purl.obolibrary.org/obo/MONDO_0018301 chronic interstitial cystitis|interstitial cystitis, chronic|interstitial cystitis/bladder pain syndrome|IC/BPS|bladder pain syndrome|IC/PBS|painful bladder syndrome|interstitial cystitis/painful bladder syndrome|ulcerative cystitis ordo_disease MONDO:0021943 tuberculoma biolink:Disease mondo UMLS:C0041295|MESH:D014375|SCTID:15202009 A tumor-like mass resulting from the enlargement of a tuberculous lesion. MESH:D014375|UMLS:C0041295|SNOMEDCT:15202009 http://purl.obolibrary.org/obo/MONDO_0021943 Tuberculomas|Tuberculoma MONDO:0018300 obsolete genetic hyperaldosteronism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018300 MONDO:0021944 auditory neuropathy biolink:Disease mondo UMLS:C1852271|GARD:0009274|UMLS:C2732267|NCIT:C116364|SCTID:443805006|MESH:C538268|OMIMPS:609129 A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. MESH:C538268|SNOMEDCT:443805006|NCIT:C116364|UMLS:C1852271|UMLS:C2732267 http://purl.obolibrary.org/obo/MONDO_0021944 familial auditory neuropathy|progressive auditory neuropathy|auditory dys-synchrony|auditory neuropathy|ANSD|auditory neuropathy spectrum disorder gard_rare MONDO:0018303 generalized isolated dystonia biolink:Disease mondo Orphanet:376724|ICD10:G24.1 ORPHA:376724 http://purl.obolibrary.org/obo/MONDO_0018303 ordo_group_of_disorders MONDO:0018302 acquired kinky hair syndrome biolink:Disease mondo ICD10:L67.8|UMLS:CN204889|Orphanet:37559 Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected. UMLS:CN204889|ORPHA:37559 http://purl.obolibrary.org/obo/MONDO_0018302 ordo_disease MONDO:0021945 hearing disorder biolink:Disease mondo UMLS:C0260662|NCIT:C3078|MESH:D006311|SCTID:128540005 A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. MESH:D006311|SNOMEDCT:128540005|NCIT:C3078|UMLS:C0260662 http://purl.obolibrary.org/obo/MONDO_0021945 auditory alteration|hearing disorder|disorder of hearing MONDO:0021948 cutaneous tuberculosis biolink:Disease mondo UMLS:C0041309|EFO:1001443|SCTID:66986005 UMLS:C0041309|SNOMEDCT:66986005 http://purl.obolibrary.org/obo/MONDO_0021948 Tuberculoses, Skin|Tuberculosis of skin|Skin Tuberculosis|Tuberculosis, Skin|tuberculosis cutis|Tuberculosis, Cutaneous|tuberculosis of skin|Cutaneous Tuberculoses|cutaneous tuberculosis|tuberculoderma|Tuberculoses, Cutaneous|Tuberculosis cutis|Cutaneous Tuberculosis|Cutaneous tuberculosis|Tuberculoderma|Skin Tuberculoses MONDO:0006329 olfactory neuroblastoma biolink:Disease mondo EFO:1000407|ICDO:9523/3|ICDO:9522/3|ONCOTREE:ONBL|DOID:369|NCIT:C3789 An olfactory neuroblastoma arising in the paranasal sinus. NCIT:C3789|DOID:369 http://purl.obolibrary.org/obo/MONDO_0006329 paranasal sinus olfactory neuroblastoma|olfactory neuroblastoma|esthesioneuroblastoma (morphologic abnormality)|esthesioneuroblastoma|Esthesioneuroepithelioma|Esthesioneuroepithelioma (morphologic abnormality)|Asthesioneuroblastoma (morphologic abnormality)|olfactory neuroepithelioma|Asthesioneuroblastoma|olfactory esthesioneuroblastoma|Esthesioneuroepithelioma [dup] (morphologic abnormality) MONDO:0006327 ocular sebaceous carcinoma biolink:Disease mondo EFO:1000405|UMLS:C1709308|NCIT:C43340 Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases. UMLS:C1709308|NCIT:C43340 http://purl.obolibrary.org/obo/MONDO_0006327 eye sebaceous carcinoma|ocular sebaceous carcinoma MONDO:0006328 odontogenic cyst biolink:Disease mondo EFO:1000406|MESH:D009807|Wikipedia:Odontogenic_cyst|NCIT:C54220|ICD9:526.89|SCTID:235110008 A cyst in the jaw that arises from tissues of tooth development. NCIT:C54220|SNOMEDCT:235110008|MESH:D009807 http://purl.obolibrary.org/obo/MONDO_0006328 MONDO:0008989 citrulline transport defect biolink:Disease mondo UMLS:C1859084|GARD:0009949|OMIM:215720|MESH:C536207 UMLS:C1859084|MESH:C536207|http://identifiers.org/omim/215720 http://purl.obolibrary.org/obo/MONDO_0008989 citrulline transport defect gard_rare MONDO:0008988 citrullinemia type I biolink:Disease mondo OMIM:215700|SCTID:398680004|Orphanet:247525|ICD10:E72.2|MedDRA:10058298|NCIT:C150601|DOID:0070340|GARD:0006114 Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I). DOID:0070340|NCIT:C150601|http://identifiers.org/omim/215700|MEDDRA:10058298|SNOMEDCT:398680004|ORPHA:247525 http://purl.obolibrary.org/obo/MONDO_0008988 CTNL1|citrullinemia 1|ASS deficiency|classic citrullinemia|citrullinemia type 1|Citrullinuria|CTLN1|citrullinemia, classic|argininosuccinate synthetase deficiency|argininosuccinic acid synthase deficiency|citrullinemia, type 1|argininosuccinate synthase deficiency|argininosuccinic acid synthetase deficiency ordo_disease MONDO:0006325 ocular melanoma biolink:Disease mondo NCIT:C8562|EFO:1000403|DOID:1752|ONCOTREE:OM|GARD:0007236 A melanoma that arises from the structures of the eye or ocular adnexa. DOID:1752|NCIT:C8562 http://purl.obolibrary.org/obo/MONDO_0006325 eyeball of camera-type eye melanoma|melanoma of the eye|melanoma of eye|ocular melanoma|OM|eye melanoma|eyeball of camera-type eye melanoma (disease)|intraocular melanoma|melanoma (disease) of eyeball of camera-type eye|eye melanoma (disease) MONDO:0021941 infection by Trypanosoma rhodesiense biolink:Disease mondo SCTID:42872003|NCIT:C35085|UMLS:C0041233|ICD9:086.4 An infection with Trypanosoma brucei rhodesiense. UMLS:C0041233|SNOMEDCT:42872003|NCIT:C35085 http://purl.obolibrary.org/obo/MONDO_0021941 rhodesian sleeping sickness|infection caused by trypanosoma rhodesiense|rhodesian trypanosomiasis|infection by trypanosoma rhodesiense|acute sleeping sickness|rhodesian trypanosomiasis MONDO:0006326 ocular melanoma with extraocular extension biolink:Disease mondo EFO:1000404|NCIT:C7913|UMLS:C0278869 A melanoma arising from and extending beyond the structures of the eye. UMLS:C0278869|NCIT:C7913 http://purl.obolibrary.org/obo/MONDO_0006326 ocular melanoma with extraocular extension|extraocular extension melanoma|extraocular extension of melanoma MONDO:0008987 obsolete cirrhosis, familial biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008987 MONDO:0008986 circumvallate placenta syndrome biolink:Disease mondo MESH:C565847|UMLS:C1859089|OMIM:215550 http://identifiers.org/omim/215550|MESH:C565847|UMLS:C1859089 http://purl.obolibrary.org/obo/MONDO_0008986 circumvallate placenta syndrome MONDO:0006323 non-seminomatous lesion biolink:Disease mondo EFO:1000401 A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma. NCIT:C36127 http://purl.obolibrary.org/obo/MONDO_0006323 MONDO:0006324 normal breast-like subtype of breast carcinoma biolink:Disease mondo NCIT:C53557|EFO:1000402|UMLS:C3642471 A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues. UMLS:C3642471|NCIT:C53557 http://purl.obolibrary.org/obo/MONDO_0006324 normal breast-like subtype of breast cancer|normal breast-like subtype of breast carcinoma MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules biolink:Disease mondo UMLS:C2673817|OMIM:215520|MESH:C567137|GARD:0001361 MESH:C567137|http://identifiers.org/omim/215520|UMLS:C2673817 http://purl.obolibrary.org/obo/MONDO_0008985 ciliary dyskinesia, due to transposition of ciliary microtubules|ciliary dyskinesia with transposition of ciliary microtubules gard_rare MONDO:0006321 non-functioning adrenal cortex adenoma biolink:Disease mondo UMLS:C1709240|NCIT:C48458|EFO:1000399 An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease. UMLS:C1709240|NCIT:C48458 http://purl.obolibrary.org/obo/MONDO_0006321 non-functioning adrenal cortical adenoma|non-functioning adrenal cortex adenoma|adrenal cortex non-functioning endocrine neoplasm|adrenal cortical incidentaloma|nonfunctional adrenal cortex adenoma|non-functioning endocrine neoplasm of adrenal cortex MONDO:0008984 ciliary discoordination due to random ciliary orientation biolink:Disease mondo UMLS:C0340038|SCTID:233667003|ICD9:759.89|OMIM:215518|MESH:C562757|GARD:0001360 http://identifiers.org/omim/215518|SNOMEDCT:233667003|UMLS:C0340038|MESH:C562757 http://purl.obolibrary.org/obo/MONDO_0008984 ciliary discoordination due to random ciliary orientation|Rutland ciliary disorientation syndrome|ciliary discoordination, due to random ciliary orientation gard_rare MONDO:0006322 non-neoplastic bile duct disorder biolink:Disease mondo UMLS:C3275160|EFO:1000400|NCIT:C35774 A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia. NCIT:C35774|UMLS:C3275160 http://purl.obolibrary.org/obo/MONDO_0006322 non-neoplastic bile duct disorder MONDO:0008983 chromosomal instability with tissue-specific radiosensitivity biolink:Disease mondo OMIM:215510|MESH:C565848 http://identifiers.org/omim/215510|MESH:C565848 http://purl.obolibrary.org/obo/MONDO_0008983 chromosomal instability with tissue-specific radiosensitivity MONDO:0008982 central areolar choroidal dystrophy biolink:Disease mondo SCTID:312918002|Orphanet:75377|SCTID:231996009|OMIMPS:215500|DC:0000084|ICD10:H31.2|ICD9:363.54|GARD:0010049 Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. ORPHA:75377|MESH:C535358|SNOMEDCT:231996009|SNOMEDCT:312918002 http://purl.obolibrary.org/obo/MONDO_0008982 choroidal dystrophy, central areolar, 1|choroidal dystrophy|CACD|CACD1|central areolar choroidal sclerosis|choroidal dystrophy central areolar|areolar atrophy of the macula ordo_disease MONDO:0008981 infantile choroidocerebral calcification syndrome biolink:Disease mondo Orphanet:1313|GARD:0001313|MESH:C535357|OMIM:215480|ICD10:G93.8|SCTID:724228005|UMLS:C1859092 This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities. SNOMEDCT:724228005|ORPHA:1313|http://identifiers.org/omim/215480|MESH:C535357|UMLS:C1859092 http://purl.obolibrary.org/obo/MONDO_0008981 choroid plexus calcification with mental retardation|Choroido-cerebral calcification syndrome with retardation|choroid plexus calcification and mental retardation|choroid plexus calcification and intellectual disability|choroid plexus calcification with intellectual disability ordo_disease MONDO:0006320 non-cutaneous melanoma biolink:Disease mondo UMLS:C1334974|NCIT:C8711|EFO:1000397 Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ) UMLS:C1334974|NCIT:C8711 http://purl.obolibrary.org/obo/MONDO_0006320 non-cutaneous melanoma|extracutaneous melanoma MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome biolink:Disease mondo UMLS:C1859093|GARD:0000944|MESH:C565850|OMIM:215470|ICD10:G11.8|SCTID:715984007|Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. SNOMEDCT:715984007|ORPHA:1180|http://identifiers.org/omim/215470|MESH:C565850|UMLS:C1859093 http://purl.obolibrary.org/obo/MONDO_0008980 boucher-NeuhC$user syndrome|boucher-NEUHAUSER syndrome; BNHS|boucher-NEUHAUSER syndrome|BNHS|spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy|boucher-Neuhäuser syndrome|chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism|ataxia - hypogonadism - choroidal dystrophy ordo_disease GO:0045905 positive regulation of translational termination biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of translational termination. http://purl.obolibrary.org/obo/GO_0045905 activation of translational termination|stimulation of translational termination|upregulation of translational termination|up-regulation of translational termination|up regulation of translational termination GO:0045906 negative regulation of vasoconstriction biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of vasoconstriction. http://purl.obolibrary.org/obo/GO_0045906 down regulation of vasoconstriction|inhibition of vasoconstriction|down-regulation of vasoconstriction|downregulation of vasoconstriction GO:0045904 negative regulation of translational termination biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination. http://purl.obolibrary.org/obo/GO_0045904 down-regulation of translational termination|down regulation of translational termination|inhibition of translational termination|downregulation of translational termination GO:0045901 positive regulation of translational elongation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of translational elongation. http://purl.obolibrary.org/obo/GO_0045901 upregulation of translational elongation|up regulation of translational elongation|stimulation of translational elongation|activation of translational elongation|up-regulation of translational elongation GO:0045900 negative regulation of translational elongation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation. http://purl.obolibrary.org/obo/GO_0045900 downregulation of translational elongation|down regulation of translational elongation|inhibition of translational elongation|down-regulation of translational elongation MONDO:0021932 infection by Trypanosoma gambiense biolink:Disease mondo ICD9:086.3|GARD:0008540|UMLS:C0041232|NCIT:C35084|SCTID:75809006 Trypanosomiasis caused by infection by Trypanosoma brucei gambiense. NCIT:C35084|UMLS:C0041232|SNOMEDCT:75809006 http://purl.obolibrary.org/obo/MONDO_0021932 gambiense trypanosomiasis infection|Gambian Trypanosomiasis|gambian trypanosomiasis|Infection caused by Trypanosoma gambiense|Chronic sleeping sickness|infection caused by trypanosoma gambiense|gambian sleeping sickness|chronic sleeping sickness|Gambiense trypanosomiasis infection|Gambian trypanosomiasis|gambian trypanosomiasis|Infection by Trypanosoma gambiense|infection by trypanosoma gambiense|Gambian sleeping sickness gard_rare MONDO:0021935 aspergillus niger infection biolink:Disease mondo MESH:C535390|GARD:0009716 A infectious disease involving the Aspergillus niger. MESH:C535390 http://purl.obolibrary.org/obo/MONDO_0021935 infections, Aspergillus niger|Aspergillus niger infection|Aspergillus niger infection, pulmonary gard_rare HP:0003011 Abnormality of the musculature biolink:PhenotypicFeature mondo UMLS:C4021745 Abnormality originating in one or more muscles, i.e., of the set of muscles of body. http://purl.obolibrary.org/obo/HP_0003011 Muscular abnormality GO:0045907 positive regulation of vasoconstriction biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of vasoconstriction. http://purl.obolibrary.org/obo/GO_0045907 activation of vasoconstriction|upregulation of vasoconstriction|up regulation of vasoconstriction|stimulation of vasoconstriction|up-regulation of vasoconstriction MONDO:0021937 obsolete Asrar Facharzt Haque syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021937 GO:0043292 contractile fiber biolink:OntologyClass mondo Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. http://purl.obolibrary.org/obo/GO_0043292 contractile fibre|muscle fiber|muscle fibre NCBITaxon:7371 Calliphoridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7371 blow-fly|bottle flies|blowflly|blow flies|blow flly|blowflies CHEBI:46787 solvent biolink:ChemicalSubstance mondo A liquid that can dissolve other substances (solutes) without any change in their chemical composition. http://purl.obolibrary.org/obo/CHEBI_46787 Loesungsmittel|solvant|solvents GO:0006310 DNA recombination biolink:OntologyClass mondo Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. http://purl.obolibrary.org/obo/GO_0006310 NCBITaxon:7387 Oestridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7387 botflies|bot flies|warble flies UBERON:0005502 rhombomere roof plate biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005502 roof plate hindbrain|future hindbrain roof plate|roof plate rhombomere|roof plate rhombomere region|roof plate rhombomeres UBERON:0005501 rhombomere lateral wall biolink:AnatomicalEntity mondo A neural tube lateral wall that is part of a rhombomere. http://purl.obolibrary.org/obo/UBERON_0005501 future hindbrain lateral wall NCBITaxon:2572478 Oesophagostominae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2572478 HGNC:3942 MTOR biolink:OntologyClass mondo http://identifiers.org/hgnc/3942 UBERON:0029503 sacral spinal cord gray matter biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0029503 sacral spinal cord gray matter HGNC:3948 FRAXD biolink:OntologyClass mondo http://identifiers.org/hgnc/3948 NCBITaxon:319546 Rickettsia conorii subsp. conorii organism taxon mondo GC_ID:11|PMID:15766388 http://purl.obolibrary.org/obo/NCBITaxon_319546 HGNC:3954 FRG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3954 HGNC:3951 FXN biolink:OntologyClass mondo http://identifiers.org/hgnc/3951 GO:0021915 neural tube development biolink:OntologyClass mondo The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. http://purl.obolibrary.org/obo/GO_0021915 MONDO:0008917 heart defects-limb shortening syndrome biolink:Disease mondo SCTID:721009008|GARD:0002613|MESH:C535850|UMLS:C1859327|OMIM:212135|ICD10:Q87.2|Orphanet:1354 Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome. ORPHA:1354|SNOMEDCT:721009008|http://identifiers.org/omim/212135|MESH:C535850|UMLS:C1859327 http://purl.obolibrary.org/obo/MONDO_0008917 heart defect and limb shortening syndrome|heart defects and limb shortening|cardioskeletal syndrome, KUWAITI type|cardioskeletal syndrome kuwaiti type gard_rare|ordo_malformation_syndrome MONDO:0008916 cardiomyopathy associated with myopathy and sudden death biolink:Disease mondo MESH:C565881|OMIM:212130|UMLS:C1859328 MESH:C565881|http://identifiers.org/omim/212130|UMLS:C1859328 http://purl.obolibrary.org/obo/MONDO_0008916 cardiomyopathy associated with myopathy and sudden death MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome biolink:Disease mondo GARD:0003373|SCTID:719451006|UMLS:C0796031|Orphanet:2229|ICD10:Q87.8|OMIM:212112|UMLS:C0796083 This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). http://identifiers.org/omim/212112|SNOMEDCT:719451006|UMLS:C0796031|UMLS:C0796083|ORPHA:2229 http://purl.obolibrary.org/obo/MONDO_0008915 cardiomyopathy with primary testicular failure|Malouf syndrome|cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|cardiomyopathy, dilated, with hypergonadotropic hypogonadism|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|Cardiogenital syndrome|dilated cardiomyopathy with hypergonadotropic hypogonadism|Najjar syndrome ordo_malformation_syndrome MONDO:0008914 cardioauditory syndrome of Sanchez Cascos biolink:Disease mondo GARD:0008519|OMIM:212100|MESH:C535577|UMLS:C1859329 MESH:C535577|http://identifiers.org/omim/212100|UMLS:C1859329 http://purl.obolibrary.org/obo/MONDO_0008914 Sanchez Cascos cardioauditory syndrome|cardioauditory syndrome of Sanchez Cascos gard_rare HGNC:3959 FRZB biolink:OntologyClass mondo http://identifiers.org/hgnc/3959 MONDO:0008913 cardiac valvular defect, developmental biolink:Disease mondo MESH:C565882|OMIM:212093|UMLS:C1859330 http://identifiers.org/omim/212093|MESH:C565882|UMLS:C1859330 http://purl.obolibrary.org/obo/MONDO_0008913 CARDIAC valvular defect, developmental; CVDD|CVDD|cardiac valvular defect, developmental MONDO:0008912 cardiac septal defects with coarctation of the aorta biolink:Disease mondo MESH:C565883|UMLS:C1859331|OMIM:212090 http://identifiers.org/omim/212090|MESH:C565883|UMLS:C1859331 http://purl.obolibrary.org/obo/MONDO_0008912 cardiac septal defects with coarctation of the aorta MONDO:0008911 cardiac lipidosis, familial biolink:Disease mondo MESH:C565884|UMLS:C1859332|OMIM:212080 MESH:C565884|http://identifiers.org/omim/212080|UMLS:C1859332 http://purl.obolibrary.org/obo/MONDO_0008911 cardiac lipidosis, familial MONDO:0008910 carboxypeptidase N deficiency biolink:Disease mondo NCIT:C132196|SCTID:234627009|ICD9:279.8|OMIM:212070|UMLS:C0398782|MESH:C562876 An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity. SNOMEDCT:234627009|NCIT:C132196|UMLS:C0398782|http://identifiers.org/omim/212070|MESH:C562876 http://purl.obolibrary.org/obo/MONDO_0008910 carboxypeptidase N deficiency PATO:0001018 physical quality biolink:OntologyClass mondo A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. http://purl.obolibrary.org/obo/PATO_0001018 relational physical quality HP:0005607 Abnormal tracheobronchial morphology biolink:PhenotypicFeature mondo Fyler:4232|UMLS:C4021631 http://purl.obolibrary.org/obo/HP_0005607 Tracheobronchial anomalies HGNC:3964 FSHB biolink:OntologyClass mondo http://identifiers.org/hgnc/3964 HGNC:1301 CFAP298 biolink:OntologyClass mondo http://identifiers.org/hgnc/1301 MONDO:0008909 congenital disorder of glycosylation, type i/IIx biolink:Disease mondo GARD:0009840|MESH:C562844|UMLS:C0349655|OMIM:212067 MESH:C562844|http://identifiers.org/omim/212067|UMLS:C0349655 http://purl.obolibrary.org/obo/MONDO_0008909 congenital disorder of glycosylation, type i/IIx|congenital disorder of glycosylation type I/IIX|CDG X|CDG-X gard_rare HGNC:3960 FSCN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3960 MONDO:0008908 MGAT2-CDG biolink:Disease mondo OMIM:212066|ICD10:E77.8|SCTID:724142005|MESH:C535752|DOID:0070253|GARD:0009828|UMLS:C2931008|Orphanet:79329 (14q21). DOID:0070253|SNOMEDCT:724142005|http://identifiers.org/omim/212066|ORPHA:79329|MESH:C535752|UMLS:C2931008 http://purl.obolibrary.org/obo/MONDO_0008908 CDG-IIa|carbohydrate deficient glycoprotein syndrome type IIa|carbohydrate-deficient glycoprotein syndrome, type II|CDG2A|intellectual disability, Growth retardation, prominent columella, and open mouth|CDGS2|CDG 2A|CDG IIa|congenital disorder of glycosylation, type IIa; CDG2A|congenital disorder of glycosylation type IIa|carbohydrate-deficient glycoprotein syndrome type 2|CDG syndrome type IIa|Alkuraya syndrome|congenital disorder of glycosylation type 2a|congenital disorder of glycosylation, type IIa|MGAT2-CDG (CDG-IIa)|N-acetylglucosaminyltransferase 2 deficiency|carbohydrate-deficient glycoprotein syndrome, type II, formerly|carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly|mental retardation, Growth retardation, prominent columella, and open mouth ordo_disease MONDO:0008907 PMM2-CDG biolink:Disease mondo MESH:C535739|ICD10:E77.8|OMIM:212065|SCTID:459063003|UMLS:C0349653|Orphanet:79318|GARD:0009826|NCIT:C126868 PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. ORPHA:79318|http://identifiers.org/omim/212065|MESH:C535739|UMLS:C0349653|SNOMEDCT:459063003|NCIT:C126868 http://purl.obolibrary.org/obo/MONDO_0008907 CDG 1A|CDG syndrome type Ia|congenital disorder of glycosylation type Ia|Jaeken syndrome|congenital disorder of glycosylation, type Ia|carbohydrate-deficient glycoprotein syndrome type 1A|carbohydrate-deficient glycoprotein syndrome type 1A (formerly)|carbohydrate-deficient glycoprotein syndrome, type Ia, formerly|CDG1A|carbohydrate-deficient glycoprotein syndrome, type Ia|PMM2-CDG (CDG-Ia)|congenital disorder of glycosylation type 1a|carbohydrate deficient glycoprotein syndrome type Ia|CDG-IA|phosphomannomutase 2 deficiency|congenital disorder of glycosylation, type Ia; CDG1A ordo_disease MONDO:0008928 cataract-ataxia-deafness syndrome biolink:Disease mondo UMLS:C0796123|ICD10:G11.2|OMIM:212710|MESH:C538283|Orphanet:1368|GARD:0001141 Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. ORPHA:1368|http://identifiers.org/omim/212710|UMLS:C0796123|MESH:C538283 http://purl.obolibrary.org/obo/MONDO_0008928 Begeer syndrome|polyneuropathy-cataract-deafness syndrome|polyneuropathy, cataract, deafness syndrome|cataract ataxia deafness syndrome|cataract-ataxia-deafness-retardation syndrome|cataract ataxia deafness ordo_disease MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome biolink:Disease mondo MESH:C565876|ICD10:Q14.8|UMLS:CN237578|Orphanet:435930|OMIM:212550 UMLS:CN237578|MESH:C565876|ORPHA:435930|http://identifiers.org/omim/212550 http://purl.obolibrary.org/obo/MONDO_0008927 ODRMD|optic DISC anomalies with retinal and/or macular dystrophy; ODRMD|optic DISC anomalies with retinal and/or macular dystrophy ordo_disease MONDO:0008926 COFS syndrome biolink:Disease mondo NCIT:C3817|Orphanet:1466|GARD:0006027|DC:0000076|OMIMPS:214150|UMLS:C0220722|ICD10:Q87.1 Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. ORPHA:1466|UMLS:C2931277|UMLS:C0220722|UMLS:C1859312|NCIT:C3817 http://purl.obolibrary.org/obo/MONDO_0008926 Pena-Shokeir syndrome type 2|cerebro-oculo-facio-skeletal syndrome|COFS|cerebrooculofacioskeletal syndrome prototype_pattern|ordo_clinical_subtype|gard_rare MONDO:0008925 cataract 46 juvenile-onset biolink:Disease mondo OMIM:212500|ICD10:Q12.0|GARD:0001150|DOID:0110243|MESH:C538286|Orphanet:98987 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene. ORPHA:98987|DOID:0110243|http://identifiers.org/omim/212500|MESH:C538286 http://purl.obolibrary.org/obo/MONDO_0008925 cataract 46, juvenile-onset|cataract, congenital or juvenile|LEMD2 early-onset non-syndromic cataract|cataract Hutterite type|juvenilae cataract Hutterite type|cataract, juvenile, Hutterite type|early-onset non-syndromic cataract caused by mutation in LEMD2|CTRCT46|cataract 46, juvenile-onset; CTRCT46 gard_rare MONDO:0008924 congenital cataract-ichthyosis syndrome biolink:Disease mondo UMLS:C1859315|GARD:0001145|OMIM:212400|MESH:C538281|Orphanet:1376 Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive. ORPHA:1376|http://identifiers.org/omim/212400|UMLS:C1859315|MESH:C538281 http://purl.obolibrary.org/obo/MONDO_0008924 Syndermotic cataract and congenital ichthyosis|cataract and congenital ichthyosis ordo_disease HGNC:3969 FSHR biolink:OntologyClass mondo http://identifiers.org/hgnc/3969 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia biolink:Disease mondo Orphanet:1366|UMLS:C1859316|ICD10:Q82.8|MESH:C535336|GARD:0001139|ICD10:Q84.0|OMIM:212360 Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. MESH:C535336|http://identifiers.org/omim/212360|UMLS:C1859316|ORPHA:1366 http://purl.obolibrary.org/obo/MONDO_0008923 autosomal recessive palmoplantar hyperkeratosis and congenital alopecia|cataract-alopecia-sclerodactyly syndrome|palmoplantar keratoderma and congenital alopecia 2; PPKCA2|PPK-CA, Wallis type|PPKCA2|palmoplantar keratoderma and congenital alopecia 2|palmoplantar keratoderma and congenital alopecia type 2|palmoplantar keratoderma and congenital alopecia, Wallis type|cataract, alopecia, sclerodactyly syndrome|Ppkca, Wallis type|cass|cataract, alopecia, sclerodactyly gard_rare|ordo_disease MONDO:0008922 Sengers syndrome biolink:Disease mondo Orphanet:1369|DOID:0080132|GARD:0001142|ICD10:Q87.8|UMLS:C1859317|MESH:C538280|OMIM:212350|SCTID:717812000 Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. http://identifiers.org/omim/212350|UMLS:C1859317|SNOMEDCT:717812000|MESH:C538280|DOID:0080132|ORPHA:1369 http://purl.obolibrary.org/obo/MONDO_0008922 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome|Sengers syndrome|mitochondrial DNA depletion syndrome 10|cardiomyopathy and cataract|cardiomyopathic mitochondrial DNA depletion syndrome 10|cataract and cardiomyopathy|mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) gard_rare|ordo_disease HGNC:1304 MRAP biolink:OntologyClass mondo http://identifiers.org/hgnc/1304 MONDO:0008921 carnosinemia biolink:Disease mondo NCIT:C125661|ICD10:E70.8|SCTID:410052008|UMLS:C3495555|OMIM:212200|Orphanet:1361|GARD:0006001 Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. http://identifiers.org/omim/212200|SNOMEDCT:410052008|NCIT:C125661|ORPHA:1361|UMLS:C3495555 http://purl.obolibrary.org/obo/MONDO_0008921 carnosinemia|Carnosinase deficiency|homocarnosinosis ordo_disease MONDO:0008920 carnitine deficiency, myopathic biolink:Disease mondo UMLS:C1859318|OMIM:212160|MESH:C536100|GARD:0006616 http://identifiers.org/omim/212160|UMLS:C1859318|MESH:C536100 http://purl.obolibrary.org/obo/MONDO_0008920 myopathic carnitine deficiency|carnitine deficiency, myopathic gard_rare PATO:0001025 pressure biolink:OntologyClass mondo A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. http://purl.obolibrary.org/obo/PATO_0001025 HGNC:3976 FTH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3976 HGNC:3974 FTCD biolink:OntologyClass mondo http://identifiers.org/hgnc/3974 MONDO:0008919 systemic primary carnitine deficiency disease biolink:Disease mondo ICD10:E71.42|DOID:14365|ICD10:E71.41|NCIT:C98864|UMLS:C0342788|SCTID:21764004|ICD10:E71.3|MESH:C536778|Orphanet:158|ICD9:277.82|GARD:0005104|ICD9:277.81|OMIM:212140 Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. SNOMEDCT:21764004|ORPHA:158|DOID:14365|MESH:C536778|http://identifiers.org/omim/212140|UMLS:C0342788|NCIT:C98864 http://purl.obolibrary.org/obo/MONDO_0008919 Carnitine plasma-membrane transporter deficiency|Carnitine uptake defect|Carnitine uptake deficiency|cud|CARNITINE deficiency, systemic primary|Carnitine deficiency|deficiency of plasma-membrane carnitine transporter|Carnitine transporter defect|carnitine uptake defect|systemic Carnitine deficiency|systemic primary carnitine deficiency|carnitine transporter deficiency|renal carnitine transport defect|primary carnitine deficiency|Carnitine transporter, plasma-Membrane, deficiency of|Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine|CARNITINE deficiency, systemic primary; CDSP|Carnitine deficiency, primary|CDSP|Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine|SPCD ordo_disease MONDO:0008918 carnitine-acylcarnitine translocase deficiency biolink:Disease mondo SCTID:238003000|Orphanet:159|UMLS:C0342791|NCIT:C133086|GARD:0001123|ICD10:E71.3|MESH:C562812|OMIM:212138 Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. SNOMEDCT:238003000|NCIT:C133086|ORPHA:159|UMLS:C0342791|http://identifiers.org/omim/212138|MESH:C562812 http://purl.obolibrary.org/obo/MONDO_0008918 CACTD|Cact deficiency|carnitine-acylcarnitine translocase deficiency|CACT deficiency|CARNITINE-acylcarnitine translocase deficiency; CACTD gard_rare|ordo_disease HGNC:1318 C3 biolink:OntologyClass mondo http://identifiers.org/hgnc/1318 HGNC:1324 C4B biolink:OntologyClass mondo http://identifiers.org/hgnc/1324 HGNC:1323 C4A biolink:OntologyClass mondo http://identifiers.org/hgnc/1323 HGNC:1321 TIMMDC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1321 MONDO:0008906 obsolete carbimazole sensitivity biolink:Disease mondo OMIM:212060 http://identifiers.org/omim/212060 http://purl.obolibrary.org/obo/MONDO_0008906 carbimazole sensitivity MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency biolink:Disease mondo ICD10:D84.8|UMLS:C1859353|OMIM:212050|GARD:0001077|Orphanet:457088 http://identifiers.org/omim/212050|ORPHA:457088|UMLS:C1859353 http://purl.obolibrary.org/obo/MONDO_0008905 CANDF2|candidiasis, familial, type 2|candidiasis, familial, 2|CARD9 deficiency|CARD9 immunodeficiency|candidiasis, familial, 2; CANDF2|candidiasis, familial chronic mucocutaneous, autosomal recessive|invasive candidiasis-deep dermatophytosis syndrome|candidiasis familial chronic mucocutaneous, autosomal recessive ordo_disease MONDO:0008904 camptomelic syndrome, long-limb type biolink:Disease mondo GARD:0001071|MESH:C537977|OMIM:211990|UMLS:C1859354 MESH:C537977|UMLS:C1859354|http://identifiers.org/omim/211990 http://purl.obolibrary.org/obo/MONDO_0008904 campomelic syndrome long limb type|campomelic syndrome, long-limb type|Camptomelic syndrome long limb type|camptomelic syndrome, long-limb type gard_rare MONDO:0008903 lung cancer biolink:Disease mondo ICD9:162.5|ICD10:C34.3|DOID:1324|ICD9:162.4|ICD10:C34.2|ICD9:162.3|ICD10:C34.1|NCIT:C7377|SCTID:363358000|OMIM:211980|ICD9:162.9|ICD9:162.8 A malignant neoplasm involving the lung. SNOMEDCT:363358000|NCIT:C7377|DOID:1324|http://identifiers.org/omim/211980 http://purl.obolibrary.org/obo/MONDO_0008903 malignant tumor of the lung|cancer of lung|malignant neoplasm of lung|lung cancer, protection against|lung cancer|alveolar cell carcinoma|malignant neoplasm of the lung|malignant lung tumor|Nonsmall cell lung cancer|malignant lung neoplasm|lung neoplasm|malignant tumor of lung MONDO:0008902 camptodactyly-ichthyosis syndrome biolink:Disease mondo GARD:0010134|MESH:C537976|OMIM:211965|UMLS:C1859355 MESH:C537976|http://identifiers.org/omim/211965|UMLS:C1859355 http://purl.obolibrary.org/obo/MONDO_0008902 camptodactyly ichthyosis syndrome|camptodactyly-ichthyosis syndrome gard_rare MONDO:0008901 Tel Hashomer camptodactyly syndrome biolink:Disease mondo UMLS:C1859356|GARD:0005128|ICD10:Q74.0|Orphanet:3292|SCTID:719946008|OMIM:211960|MESH:C536953 Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. MESH:C536953|http://identifiers.org/omim/211960|UMLS:C1859356|SNOMEDCT:719946008|ORPHA:3292 http://purl.obolibrary.org/obo/MONDO_0008901 Tel Hashomer camptodactyly syndrome|camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases gard_rare|ordo_malformation_syndrome MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia biolink:Disease mondo OMIM:211930|Orphanet:1321|ICD10:Q87.2|GARD:0001064|MESH:C537974 Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. ORPHA:1321|MESH:C537974|http://identifiers.org/omim/211930 http://purl.obolibrary.org/obo/MONDO_0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia|camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia ordo_malformation_syndrome CHEBI:46725 oxide mineral biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_46725 oxide minerals HGNC:1331 C5 biolink:OntologyClass mondo http://identifiers.org/hgnc/1331 HGNC:1330 MYOZ2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1330 MONDO:0043162 pagon stephan syndrome biolink:Disease mondo MESH:C538100|GARD:0004195|UMLS:C2931733 UMLS:C2931733|MESH:C538100 http://purl.obolibrary.org/obo/MONDO_0043162 septo-optic dysplasia with digital anomalies gard_rare MONDO:0043168 panostotic fibrous dysplasia biolink:Disease mondo MESH:C537164|UMLS:C2931430|GARD:0004213 UMLS:C2931430|MESH:C537164 http://purl.obolibrary.org/obo/MONDO_0043168 unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia gard_rare MONDO:0043164 palmer pagon syndrome biolink:Disease mondo UMLS:C2931734|MESH:C538107|GARD:0004199 UMLS:C2931734|MESH:C538107 http://purl.obolibrary.org/obo/MONDO_0043164 hydrocephaly - low insertion umbilicus|familial hydrocephalus with a low-insertion umbilicus gard_rare MONDO:0043166 pancreatic lipomatosis duodenal stenosis biolink:Disease mondo MESH:C535839|GARD:0004208|UMLS:C2931040 MESH:C535839|UMLS:C2931040 http://purl.obolibrary.org/obo/MONDO_0043166 pancreatic lipomatosis and duodenal atresia gard_rare NCBITaxon:1678141 Orthohepevirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1678141 GO:0043457 regulation of cellular respiration biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds. http://purl.obolibrary.org/obo/GO_0043457 NCBITaxon:1678143 Orthohepevirus A organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1678143 CL:0005012 multi-ciliated epithelial cell biolink:Cell mondo A ciliated epithelial cell with many cilium. http://purl.obolibrary.org/obo/CL_0005012 multiciliated cell|multiciliated epithelial cell|MCC|multi-ciliated cell MONDO:0043172 pfeiffer rockelein syndrome biolink:Disease mondo GARD:0004306|UMLS:C2931656|MESH:C537890 MESH:C537890|UMLS:C2931656 http://purl.obolibrary.org/obo/MONDO_0043172 asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia gard_rare MONDO:0018194 sex cord-stromal tumor of testis biolink:Disease mondo UMLS:CN204701|Orphanet:363489|ICD10:C62.1 UMLS:CN204701|ORPHA:363489 http://purl.obolibrary.org/obo/MONDO_0018194 testicular sex cord-stromal tumor ordo_disease MONDO:0018193 testicular teratoma biolink:Disease mondo Orphanet:363483|ICD10:C62.9 ORPHA:363483 http://purl.obolibrary.org/obo/MONDO_0018193 teratoma of the testis ordo_disease MONDO:0043174 Pfeiffer Tietze Welte syndrome biolink:Disease mondo GARD:0004308|UMLS:C2931657|MESH:C537891 MESH:C537891|UMLS:C2931657 http://purl.obolibrary.org/obo/MONDO_0043174 sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th gard_rare MONDO:0018196 obsolete germ cell tumor of testis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018196 MONDO:0018195 obsolete non-seminomatous germ cell tumor of testis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018195 MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy biolink:Disease mondo ICD10:G12.1|UMLS:CN227282|Orphanet:363447|OMIMPS:158600 UMLS:CN227282|ORPHA:363447 http://purl.obolibrary.org/obo/MONDO_0018190 spinal muscular atrophy, lower extremity-predominant|SMALED|lower extremity-predominant autosomal dominant proximal spinal muscular atrophy ordo_disease MONDO:0043170 Pavone Fiumara Rizzo syndrome biolink:Disease mondo UMLS:C2931172|MESH:C536313|GARD:0004262 MESH:C536313|UMLS:C2931172 http://purl.obolibrary.org/obo/MONDO_0043170 syndactyly type 1 with cataracts and intellectual disability|syndactyly type 1 with cataracts and mental retardation|Pavone Fiumara Rizzo syndrome gard_rare MONDO:0018192 paratesticular adenocarcinoma biolink:Disease mondo ICD10:C63.8|ICD10:C63.7|Orphanet:363478|ICD10:C63.2|ICD10:C63.1|ICD10:C63.0 ORPHA:363478 http://purl.obolibrary.org/obo/MONDO_0018192 adenocarcinoma of paratestis|adenocarcinoma of the paratestis ordo_disease MONDO:0018191 tumor of testis and paratestis biolink:Disease mondo Orphanet:363472|UMLS:CN204698 UMLS:CN204698|ORPHA:363472 http://purl.obolibrary.org/obo/MONDO_0018191 testicular and paratesticular tumor ordo_group_of_disorders MONDO:0043179 piepkorn karp hickok syndrome biolink:Disease mondo UMLS:C2931016|MESH:C535774|GARD:0004345 MESH:C535774|UMLS:C2931016 http://purl.obolibrary.org/obo/MONDO_0043179 short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect gard_rare GO:0043467 regulation of generation of precursor metabolites and energy biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances. http://purl.obolibrary.org/obo/GO_0043467 MONDO:0043176 phosphoribosylpyrophosphate synthetase deficiency biolink:Disease mondo UMLS:C1291401|SCTID:124343001|MESH:C535995|GARD:0004337|UMLS:C2931079|MESH:C537897|HGNC:9462|GARD:0001690 SNOMEDCT:124343001|MESH:C537897|MESH:C535995|UMLS:C2931079|UMLS:C1291401 http://purl.obolibrary.org/obo/MONDO_0043176 deafness hyperuricemia neurologic ataxia|PRPP synthetase deficiency gard_rare CL:0005026 hepatoblast biolink:Cell mondo Multi fate stem cell that gives rise to both hepatocytes and cholangiocytes as descendants. http://purl.obolibrary.org/obo/CL_0005026 CL:0005020 lymphangioblast biolink:Cell mondo Lymphatic progenitor cells. http://purl.obolibrary.org/obo/CL_0005020 MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion biolink:Disease mondo ICD10:G40.4|SCTID:766044005|Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. SNOMEDCT:766044005|ORPHA:363549 http://purl.obolibrary.org/obo/MONDO_0018198 AIEF|AESD|acute infantile encephalopathy predominantly affecting the frontal lobes ordo_disease MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form biolink:Disease mondo ICD10:E88.8|UMLS:CN204706|Orphanet:363534 UMLS:CN204706|ORPHA:363534 http://purl.obolibrary.org/obo/MONDO_0018197 mtDNA depletion syndrome, hepatocerebrorenal form ordo_disease CL:0005022 vascular lymphangioblast biolink:Cell mondo Lymphatic progenitor cells, derived from the veins, that give rise to lymphatic endothelial cells. http://purl.obolibrary.org/obo/CL_0005022 parachordal lymphangioblast MONDO:0018199 new-onset refractory status epilepticus biolink:Disease mondo ICD10:G41.8|Orphanet:363558|GARD:0012244 New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. ORPHA:363558 http://purl.obolibrary.org/obo/MONDO_0018199 New onset refractory status epilepticus|Norse|De novo cryptogenic refractory multifocal febrile status epilepticus ordo_disease MONDO:0018183 staphylococcal necrotizing pneumonia biolink:Disease mondo SCTID:763888005|Orphanet:36238|ICD10:J15.2 Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated. SNOMEDCT:763888005|ORPHA:36238 http://purl.obolibrary.org/obo/MONDO_0018183 ordo_disease MONDO:0043183 podder-tolmie syndrome biolink:Disease mondo MESH:C537518|GARD:0004387|UMLS:C2931519 MESH:C537518|UMLS:C2931519 http://purl.obolibrary.org/obo/MONDO_0043183 meningoencephalocele, arthrogryposis and hypoplastic thumbs gard_rare MONDO:0018182 bullous impetigo biolink:Disease mondo ICD10:L01.03|MedDRA:10006563|SCTID:399183005|Orphanet:36237|UMLS:C0021100|ICD10:L01.0 Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus. ORPHA:36237|UMLS:C0021100|MEDDRA:10006563|SNOMEDCT:399183005 http://purl.obolibrary.org/obo/MONDO_0018182 ordo_disease MONDO:0043185 pointer syndrome biolink:Disease mondo UMLS:C0796118|MESH:C536323|GARD:0004395 MESH:C536323|UMLS:C0796118 http://purl.obolibrary.org/obo/MONDO_0043185 skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties gard_rare HGNC:18294 ALG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18294 MONDO:0018185 congenital anomaly of the great veins biolink:Disease mondo Orphanet:363189 ORPHA:363189 http://purl.obolibrary.org/obo/MONDO_0018185 ordo_group_of_disorders GO:0043470 regulation of carbohydrate catabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates. http://purl.obolibrary.org/obo/GO_0043470 MONDO:0018184 gastric linitis plastica biolink:Disease mondo UMLS:CN204677|SCTID:721629005|ICD10:C16.9|Orphanet:36273 Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma. SNOMEDCT:721629005|ORPHA:36273|UMLS:CN204677 http://purl.obolibrary.org/obo/MONDO_0018184 linitis plastica of the stomach|Borrmann gastric cancer type 4 ordo_clinical_situation HGNC:18292 CFC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18292 MONDO:0018181 staphylococcal scalded skin syndrome biolink:Disease mondo ICD9:695.81|DOID:9063|SCTID:200946001|ICD10:L00|NCIT:C85077|Orphanet:36236|UMLS:C0678185|COHD:132392|EFO:0007473|SCTID:277475006|MedDRA:10041929|MESH:D013206|UMLS:C0038165 A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection. NCIT:C85077|SNOMEDCT:277475006|DOID:9063|ORPHA:36236|UMLS:C0678185|SNOMEDCT:200946001|MESH:D013206|UMLS:C0038165|MEDDRA:10041929 http://purl.obolibrary.org/obo/MONDO_0018181 dermatitis exfoliativa neonatorum|Ritter disease|toxic epidermal necrolysis, subcorneal type|Ritter's disease|SSSS|generalized exfoliative disease|pemphigus neonatorum|scalded skin syndrome|staphylococcal scalded skin syndrome ordo_disease MONDO:0043181 refsum disease with increased pipecolic acidemia biolink:Disease mondo UMLS:C1833022|GARD:0004371|MESH:C535517 MESH:C535517|UMLS:C1833022 http://purl.obolibrary.org/obo/MONDO_0043181 RDPA gard_rare MONDO:0018180 staphylococcal scarlet fever biolink:Disease mondo ICD10:A38|UMLS:CN204670|Orphanet:36235 ORPHA:36235|UMLS:CN204670 http://purl.obolibrary.org/obo/MONDO_0018180 ordo_disease GO:0006487 protein N-linked glycosylation biolink:OntologyClass mondo A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. http://purl.obolibrary.org/obo/GO_0006487 N-glycan biosynthesis|protein amino acid N-linked glycosylation|N-glycan metabolism GO:0006486 protein glycosylation biolink:OntologyClass mondo A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://purl.obolibrary.org/obo/GO_0006486 protein amino acid glycosylation|protein-carbohydrate complex assembly MONDO:0043187 pulmonary artery agenesis biolink:Disease mondo GARD:0004585|SCTID:86252004 SNOMEDCT:86252004 http://purl.obolibrary.org/obo/MONDO_0043187 agenesis of pulmonary artery|pulmonary artery agenesis|pulmonary artery absent|congenital absence of pulmonary artery gard_rare MONDO:0006198 endometrial squamous cell carcinoma biolink:Disease mondo NCIT:C8719|DOID:5533|EFO:1000240|UMLS:C1333396 A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells. DOID:5533|NCIT:C8719|UMLS:C1333396 http://purl.obolibrary.org/obo/MONDO_0006198 endometrium squamous cell carcinoma|squamous cell carcinoma of the endometrium|squamous cell carcinoma of endometrium|endometrial squamous cell carcinoma MONDO:0006199 endometrial undifferentiated carcinoma biolink:Disease mondo EFO:1000242|UMLS:CN201056|NCIT:C40156 A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation. NCIT:C40156|UMLS:CN201056 http://purl.obolibrary.org/obo/MONDO_0006199 undifferentiated endometrial carcinoma|endometrial undifferentiated carcinoma MONDO:0006196 endometrial serous adenocarcinoma biolink:Disease mondo EFO:1000238|NCIT:C27838 A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor. NCIT:C27838 http://purl.obolibrary.org/obo/MONDO_0006196 uterine papillary serous carcinoma|endometrial serous adenocarcinoma|uterine serous carcinoma|serous endometrial adenocarcinoma|uterine serous papillary adenocarcinoma|uterine serous adenocarcinoma|uterine corpus serous adenocarcinoma MONDO:0006197 endometrial small cell carcinoma biolink:Disease mondo NCIT:C40155|DOID:7139|UMLS:C1516858|EFO:1000239 A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically. DOID:7139|NCIT:C40155|UMLS:C1516858 http://purl.obolibrary.org/obo/MONDO_0006197 endometrium small cell carcinoma|endometrial small cell carcinoma|small cell carcinoma of endometrium GO:0043473 pigmentation biolink:OntologyClass mondo The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. http://purl.obolibrary.org/obo/GO_0043473 MONDO:0006194 obsolete endometrial mucinous adenocarcinoma biolink:Disease mondo A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. http://purl.obolibrary.org/obo/MONDO_0006194 MONDO:0006195 endometrial polyp biolink:Disease mondo NCIT:C6433|EFO:1000237 A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported. NCIT:C6433 http://purl.obolibrary.org/obo/MONDO_0006195 polyp, endometrial stromal, benign|endometrium polyp|endometrial polyp|polyp of the endometrium|polyp of endometrium|endometrial stromal polyp MONDO:0006192 endometrial endometrioid adenocarcinoma biolink:Disease mondo ONCOTREE:UEC|UMLS:C1336905|NCIT:C6287|EFO:1000233 A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. NCIT:C6287|UMLS:C1336905 http://purl.obolibrary.org/obo/MONDO_0006192 endometrioid adenocarcinoma of the endometrium|endometrioid adenocarcinoma of endometrium|endometrial endometrioid adenocarcinoma|endometrioid endomet. adenocar.|endometrioid endometrial adenocarcinoma|uterine corpus endometrioid carcinoma|endometrioid carcinoma of the endometrium|uterine corpus endometrioid adenocarcinoma|endometrioid carcinoma of endometrium|uterine endometrioid carcinoma MONDO:0006193 endometrial hyperplasia without atypia biolink:Disease mondo NCIT:C40157|ICD9:621.34|SCTID:134031000119108|EFO:1000234 Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia. SNOMEDCT:134031000119108|NCIT:C40157 http://purl.obolibrary.org/obo/MONDO_0006193 typical endometrial hyperplasia MONDO:0006190 endolymphatic sac tumor (disease) biolink:Disease mondo SCTID:699817008|EFO:1000230|GARD:0009270|ICDO:8260/1|HP:0030393|ICD9:212.0|NCIT:C67560|UMLS:C2348239 An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor. UMLS:C2348239|NCIT:C67560|SNOMEDCT:699817008 http://purl.obolibrary.org/obo/MONDO_0006190 endolymphatic sac neoplasm (disease)|neoplasm of endolymphatic sac|ELST|aggressive papillary tumor of the temporal bone|endolymphatic sac neoplasm|tumor of endolymphatic sac|endolymphatic sac tumor HP:0410008 Abnormality of the peripheral nervous system biolink:PhenotypicFeature mondo UMLS:C4073187 Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. http://purl.obolibrary.org/obo/HP_0410008 Abnormality of the peripheral nervous system MONDO:0006191 endometrial clear cell adenocarcinoma biolink:Disease mondo EFO:1000231|DOID:5299|NCIT:C8028|UMLS:C0279765 A clear cell adenocarcinoma that involves the endometrium. DOID:5299|UMLS:C0279765|NCIT:C8028 http://purl.obolibrary.org/obo/MONDO_0006191 clear cell carcinoma of endometrium|endometrial clear cell adenocarcinoma|clear cell carcinoma of the endometrium|endometrium clear cell adenocarcinoma MONDO:0018187 genetic syndromic Pierre Robin syndrome biolink:Disease mondo UMLS:CN204685|Orphanet:363294 UMLS:CN204685|ORPHA:363294 http://purl.obolibrary.org/obo/MONDO_0018187 ordo_group_of_disorders MONDO:0018186 ring chromosome biolink:Disease mondo ICD10:Q93.2|NCIT:C3360|MESH:D012303|Orphanet:363203 Aberrant chromosomes with no ends, i.e., circular. MESH:D012303|NCIT:C3360|ORPHA:363203 http://purl.obolibrary.org/obo/MONDO_0018186 r|supernumerary circular chromosome ordo_group_of_disorders NCBITaxon:7198 Phlebotominae organism taxon mondo PMID:9835021|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7198 sandflies|sand flies NCBITaxon:7197 Psychodidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7197 sandflies and mothflies MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome biolink:Disease mondo UMLS:CN204693|Orphanet:363429|ICD10:G11.1 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. ORPHA:363429|UMLS:CN204693 http://purl.obolibrary.org/obo/MONDO_0018189 ordo_disease MONDO:0018188 genetic intestinal polyposis biolink:Disease mondo ICD10:D12.6|UMLS:C2713443|Orphanet:363314 ORPHA:363314|UMLS:C2713443 http://purl.obolibrary.org/obo/MONDO_0018188 familial intestinal polyposis ordo_group_of_disorders MONDO:0018172 malignant sex cord stromal tumor of ovary biolink:Disease mondo ICD10:C56|UMLS:C1334609|UMLS:CN204631|NCIT:C8053|Orphanet:35808 Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis. NCIT:C8053|UMLS:CN204631|ORPHA:35808|UMLS:C1334609 http://purl.obolibrary.org/obo/MONDO_0018172 ovarian sex cord-stromal tumor, malignant|malignant ovarian sex cord-stromal tumor|malignant ovarian SCST|malignant ovarian Sex cord-stromal tumor|malignant Sex cord-stromal tumor of the ovary|malignant Sex cord-stromal tumor of ovary|malignant ovarian Sex cord-stromal neoplasm ordo_group_of_disorders MONDO:0018171 malignant germ cell tumor of ovary biolink:Disease mondo ICD10:C56|UMLS:C0346180|DOID:2155|NCIT:C4514|SCTID:254869000|Orphanet:35807 Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen. DOID:2155|SNOMEDCT:254869000|NCIT:C4514|UMLS:C0346180|ORPHA:35807 http://purl.obolibrary.org/obo/MONDO_0018171 malignant germ cell neoplasm of the ovary|malignant ovarian germ cell tumor|malignant germ cell neoplasm of ovary|ovary malignant germ cell tumor|malignant ovarian germ cell neoplasm|MOGCT|ovarian germ cell cancer|malignant germ cell tumor of the ovary|malignant germ cell tumor of ovary ordo_group_of_disorders MONDO:0043193 richieri-costa guion-almeida cohen syndrome biolink:Disease mondo GARD:0004712|UMLS:C2930979|MESH:C535676 MESH:C535676|UMLS:C2930979 http://purl.obolibrary.org/obo/MONDO_0043193 overgrowth - craniosynostosis - arthrogryposis|Richieri Costa Guion-Almeida dwarfism|acrofacial dysostosis Richieri Costa Guion-Almeida type|Richieri-costa Guion-Almeida Cohen syndrome gard_rare MONDO:0018174 hereditary glaucoma biolink:Disease mondo Orphanet:359|GARD:0002486|UMLS:CN227278|MESH:C580055 Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. ORPHA:359|MESH:C580055|UMLS:CN227278 http://purl.obolibrary.org/obo/MONDO_0018174 glaucoma, hereditary|hereditary glaucoma (disease) gard_rare|ordo_group_of_disorders MONDO:0043195 rubinstein taybi like syndrome biolink:Disease mondo MESH:C535877|GARD:0004745|UMLS:C2931052 MESH:C535877|UMLS:C2931052 http://purl.obolibrary.org/obo/MONDO_0043195 Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses gard_rare MONDO:0018173 acute opioid poisoning biolink:Disease mondo Orphanet:35889|ICD10:T40.2|ICD10:T40.1|UMLS:CN227277|ICD10:T40.0 Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication. ORPHA:35889|UMLS:CN227277 http://purl.obolibrary.org/obo/MONDO_0018173 ordo_disease MONDO:0018170 idiopathic nephrotic syndrome biolink:Disease mondo Orphanet:357502|UMLS:C3496337|NCIT:C122796 Nephrotic syndrome for which no cause has been identified. ORPHA:357502|UMLS:C3496337|NCIT:C122796 http://purl.obolibrary.org/obo/MONDO_0018170 ordo_group_of_disorders MONDO:0043191 radial defect robin sequence biolink:Disease mondo GARD:0004624|MESH:C536261|UMLS:C2931143 MESH:C536261|UMLS:C2931143 http://purl.obolibrary.org/obo/MONDO_0043191 bilateral radial defects club foot deformity micrognathia and cleft palate|Bruce Winship syndrome|bilateral radial defects, club foot deformity, micrognathia and cleft palate|Bruce winship syndrome gard_rare GO:0006497 protein lipidation biolink:OntologyClass mondo The covalent attachment of lipid groups to an amino acid in a protein. http://purl.obolibrary.org/obo/GO_0006497 protein amino acid lipidation|lipid:protein modification MONDO:0043197 ruvalcaba churesigaew myhre syndrome biolink:Disease mondo GARD:0004747|MESH:C537190|UMLS:C2931437 MESH:C537190|UMLS:C2931437 http://purl.obolibrary.org/obo/MONDO_0043197 onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis gard_rare MONDO:0043199 short limb dwarf lethal colavita kozlowski type biolink:Disease mondo GARD:0004823|MESH:C537597|UMLS:C2931544 MESH:C537597|UMLS:C2931544 http://purl.obolibrary.org/obo/MONDO_0043199 Colavita Kozlowski syndrome gard_rare GO:0006493 protein O-linked glycosylation biolink:OntologyClass mondo A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. http://purl.obolibrary.org/obo/GO_0006493 protein amino acid O-linked glycosylation GO:0043484 regulation of RNA splicing biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. http://purl.obolibrary.org/obo/GO_0043484 MONDO:0018179 obsolete bacterial toxic-shock syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018179 MONDO:0018176 obsolete polymicrogyria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018176 MONDO:0018175 combined deficiency of factor V and factor VIII biolink:Disease mondo UMLS:C1856883|ICD10:D68.8|DC:0000517|Orphanet:35909|SCTID:715559004 Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms. UMLS:C1856883|ORPHA:35909|SNOMEDCT:715559004 http://purl.obolibrary.org/obo/MONDO_0018175 familial multiple coagulation factor deficiency|F5F8D|combined deficiency of factor V and factor type VIII|FV and FVIII combined deficiency ordo_disease MONDO:0018178 intestinal lymphangiectasia (disease) biolink:Disease mondo MedDRA:10025213|GARD:0012331|ICD10:I89.0|Orphanet:36204|SCTID:197260007|ICD9:457.1|HP:0002593 Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies. SNOMEDCT:197260007|MESH:D008201|UMLS:C0024215|ORPHA:36204|MEDDRA:10025213 http://purl.obolibrary.org/obo/MONDO_0018178 intestinal lymphangiectasia ordo_group_of_disorders MONDO:0018177 glioblastoma (disease) biolink:Disease mondo SCTID:393563007|MedDRA:10018337|MedDRA:10018336|HP:0100843|UMLS:C0017636|UMLS:C1621958|DOID:3068|UMLS:CN227279|ONCOTREE:GBM|ICDO:9440/3|GARD:0002491|ONCOTREE:GB|NCIT:C3058|HP:0012174|ICD10:C71.9|Orphanet:360 The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) MEDDRA:10018336|MEDDRA:10018337|ORPHA:360|UMLS:C1621958|DOID:3068|SNOMEDCT:393563007|UMLS:C0017636|MESH:D005909|NCIT:C3058|UMLS:CN227279 http://purl.obolibrary.org/obo/MONDO_0018177 grade IV astrocytoma|GBM|primary glioblastoma multiforme|giant cell glioblastoma (histologic variant)|gliosarcoma (histologic variant)|glioblastoma|WHO grade IV glioma|GBM (glioblastoma)|adult glioblastoma multiforme|grade IV astrocytic neoplasm|glioblastoma multiforme|grade IV astrocytic tumor|glioblastoma multiforme (disease)|grade IV adult astrocytic tumor|spongioblastoma multiforme ordo_disease GO:0006469 negative regulation of protein kinase activity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. http://purl.obolibrary.org/obo/GO_0006469 down-regulation of protein kinase activity|down regulation of protein kinase activity|inhibition of protein kinase activity|downregulation of protein kinase activity GO:0006468 protein phosphorylation biolink:OntologyClass mondo The process of introducing a phosphate group on to a protein. http://purl.obolibrary.org/obo/GO_0006468 protein amino acid phosphorylation GO:0031424 keratinization biolink:OntologyClass mondo The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns. http://purl.obolibrary.org/obo/GO_0031424 MONDO:0043125 mcpherson robertson cammarano syndrome biolink:Disease mondo UMLS:C2931751|GARD:0003431|MESH:C538161 UMLS:C2931751|MESH:C538161 http://purl.obolibrary.org/obo/MONDO_0043125 dominantly inherited ptosis, strabismus and ectopic pupils gard_rare MONDO:0043127 mehta lewis patton syndrome biolink:Disease mondo MESH:C536147|UMLS:C2931120|GARD:0003450 MESH:C536147|UMLS:C2931120 http://purl.obolibrary.org/obo/MONDO_0043127 congenital heart disease, ptosis, hypodontia, and craniosynostosis gard_rare GO:0006464 cellular protein modification process biolink:OntologyClass mondo The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/GO_0006464 process resulting in protein modification|protein tagging activity|protein modification process MONDO:0043120 male pseudohermaphroditism due to defective lh molecule biolink:Disease mondo GARD:0003356|MESH:C535692|UMLS:C1835303|HGNC:6584 MESH:C535692|UMLS:C1835303 http://purl.obolibrary.org/obo/MONDO_0043120 gard_rare MONDO:0043123 massa casaer ceulemans syndrome biolink:Disease mondo UMLS:C2931090|MESH:C536031|GARD:0003407 UMLS:C2931090|MESH:C536031 http://purl.obolibrary.org/obo/MONDO_0043123 arthrogryposis multiplex congenita associated with lissencephaly gard_rare ECTO:1000000 exposure to environmental condition conditions biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to the condition of environmental condition. http://purl.obolibrary.org/obo/ECTO_1000000 environmental condition exposure HGNC:18276 SEC61A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18276 HGNC:18286 RAX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18286 MONDO:0043135 microcephaly microphthalmos blindness biolink:Disease mondo MESH:C537541|GARD:0003629|UMLS:C2931526 UMLS:C2931526|MESH:C537541 http://purl.obolibrary.org/obo/MONDO_0043135 gard_rare MONDO:0043137 isolated microcephaly biolink:Disease mondo GARD:0003630|MESH:C537542 MESH:C537542 http://purl.obolibrary.org/obo/MONDO_0043137 nonsyndromic microcephaly|Nonsyndromal microcephaly|microcephaly, non-syndromic gard_rare MONDO:0043131 michels caskey syndrome biolink:Disease mondo MESH:C537576|GARD:0003590|UMLS:C2931537 UMLS:C2931537|MESH:C537576 http://purl.obolibrary.org/obo/MONDO_0043131 Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities|Mullerian aplasia with hypoplastic thumbs gard_rare MONDO:0043133 microcephaly micropenis convulsions biolink:Disease mondo MESH:C537540|GARD:0003628|UMLS:C2931525 UMLS:C2931525|MESH:C537540 http://purl.obolibrary.org/obo/MONDO_0043133 microcephaly micropenis convulsions|microcephaly seizures genital hypoplasia|microcephaly micropenis seizures gard_rare MONDO:0043129 merlob grunebaum reisner syndrome biolink:Disease mondo GARD:0003545|MESH:C537461|UMLS:C2931499 MESH:C537461|UMLS:C2931499 http://purl.obolibrary.org/obo/MONDO_0043129 familial opposable triphalangeal thumbs associated with duplication of the big toes gard_rare GO:0031410 cytoplasmic vesicle biolink:OntologyClass mondo A vesicle found in the cytoplasm of a cell. http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic, membrane-bounded vesicle|cytoplasmic membrane bounded vesicle|cytoplasmic membrane-enclosed vesicle GO:0006449 regulation of translational termination biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of translational termination. http://purl.obolibrary.org/obo/GO_0006449 MONDO:0043141 microdontia hypodontia short stature biolink:Disease mondo UMLS:C2931532|MESH:C537553|GARD:0003638 UMLS:C2931532|MESH:C537553 http://purl.obolibrary.org/obo/MONDO_0043141 microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality gard_rare GO:0031406 carboxylic acid binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a carboxylic acid, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/GO_0031406 ECTO:1000019 exposure to high pressure environment conditions biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to the condition of high pressure environment. http://purl.obolibrary.org/obo/ECTO_1000019 high pressure environment exposure GO:0006448 regulation of translational elongation biolink:OntologyClass mondo Any process that modulates the frequency, rate, extent or accuracy of translational elongation. http://purl.obolibrary.org/obo/GO_0006448 GO:0031401 positive regulation of protein modification process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. http://purl.obolibrary.org/obo/GO_0031401 up regulation of protein modification|stimulation of protein modification|up-regulation of protein modification|activation of protein modification|upregulation of protein modification GO:0006446 regulation of translational initiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of translational initiation. http://purl.obolibrary.org/obo/GO_0006446 MONDO:0043143 microphthalmia microtia fetal akinesia biolink:Disease mondo GARD:0003650|UMLS:C2931224|Orphanet:2547|MESH:C536513 UMLS:C2931224|ORPHA:2547|MESH:C536513 http://purl.obolibrary.org/obo/MONDO_0043143 fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus|microphthalmia-microtia-fetal akinesia|Thomas-Jewett-Raines syndrome|Thomas Jewett Raines syndrome gard_rare|ordo_malformation_syndrome MONDO:0043139 microcephaly sparse hair mental retardation seizures biolink:Disease mondo GARD:0003633|MESH:C537545|UMLS:C2931530 UMLS:C2931530|MESH:C537545 http://purl.obolibrary.org/obo/MONDO_0043139 gard_rare HP:0040195 Decreased head circumference biolink:PhenotypicFeature mondo UMLS:C0424688|SNOMEDCT_US:271611007 An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference GO:0031400 negative regulation of protein modification process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. http://purl.obolibrary.org/obo/GO_0031400 downregulation of protein modification|down regulation of protein modification|inhibition of protein modification|down-regulation of protein modification HP:0040194 Increased head circumference biolink:PhenotypicFeature mondo UMLS:C4083076 An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. http://purl.obolibrary.org/obo/HP_0040194 Increased head circumference HP:0410043 Abnormal neural tube morphology biolink:PhenotypicFeature mondo Fyler:4339 Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). http://purl.obolibrary.org/obo/HP_0410043 HP:0410042 Abnormal liver morphology biolink:PhenotypicFeature mondo Fyler:4447 Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. http://purl.obolibrary.org/obo/HP_0410042 MONDO:0043152 negative rheumatoid factor polyarthritis biolink:Disease mondo GARD:0003931|UMLS:C2931825|MESH:C538347 UMLS:C2931825|MESH:C538347 http://purl.obolibrary.org/obo/MONDO_0043152 rheumatoid factor-negative polyarthritis|rheumatoid factor negative erosive chronic polyarthritis|RF-ve CP gard_rare ECTO:1000007 exposure to high temperature environment conditions biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to the condition of high temperature environment. http://purl.obolibrary.org/obo/ECTO_1000007 high temperature environment exposure MONDO:0043154 neonatal ovarian cyst biolink:Disease mondo MESH:C536396|UMLS:C2931186|GARD:0003934 UMLS:C2931186|MESH:C536396 http://purl.obolibrary.org/obo/MONDO_0043154 fetal ovarian cyst gard_rare MONDO:0043156 nephrotic syndrome ocular anomalies biolink:Disease mondo UMLS:C2931188|GARD:0003945|MESH:C536403 UMLS:C2931188|MESH:C536403 http://purl.obolibrary.org/obo/MONDO_0043156 familial infantile nephrotic syndrome with ocular abnormalities|Glastre Cochat Bouvier syndrome gard_rare UBERON:5103631 pedal digit 1 digitopodial skeleton biolink:AnatomicalEntity mondo A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 1 plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_5103631 pedal digit 1|pedal digit 1 skeleton|pedal digit I digitopodial skeleton MONDO:0006138 cervical large cell neuroendocrine carcinoma biolink:Disease mondo ONCOTREE:CENE|DOID:6659|UMLS:C1516417|EFO:1000167|NCIT:C40214 A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli. UMLS:C1516417|NCIT:C40214|DOID:6659 http://purl.obolibrary.org/obo/MONDO_0006138 cervical large cell neuroendocrine carcinoma|cervical neuroendocrine tumor MONDO:0006139 cervical metaplasia biolink:Disease mondo UMLS:C0281796|EFO:1000168 Metaplastic changes in the cervical glandular or squamous epithelium. UMLS:C0281796|NCIT:C4056 http://purl.obolibrary.org/obo/MONDO_0006139 MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome biolink:Disease mondo GARD:0001443|OMIM:206900|ICD10:Q87.8|SCTID:698851003|ICD9:758.5|Orphanet:77298 Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula. ORPHA:77298|SNOMEDCT:698851003|http://identifiers.org/omim/206900 http://purl.obolibrary.org/obo/MONDO_0008799 anophthalmia-esophageal-genital syndrome|MCOPS3|microphthalmia, syndromic type 3|syndromic microphthalmia, type 3|syndromic microphthalmia type 3|SOX2 anophthalmia syndrome|microphthalmia, syndromic 3; MCOPS3|Aeg syndrome|microphthalmia, syndromic 3|SOX2-related eye disorders|anophthalmia clinical with associated anomalies|anophthalmia microphthalmia esophageal atresia|microphthalmia and esophageal atresia syndrome|anophthalmia esophageal genital syndrome|anophthalmia, clinical, with associated anomalies|optic nerve hypoplasia and abnormalities of the central nervous system ordo_malformation_syndrome MONDO:0006136 obsolete cervical endometrioid adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006136 MONDO:0008798 nonsyndromic congenital nail disorder 4 biolink:Disease mondo MESH:C536377|ICD10:Q84.3|DOID:0080082|OMIM:206800|DOID:0050643|Orphanet:94150 Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene. ORPHA:94150|http://identifiers.org/omim/206800|DOID:0080082|MESH:C536377|DOID:0050643 http://purl.obolibrary.org/obo/MONDO_0008798 HYPONYCHIA congenita|nail disorder, nonsyndromic congenital, 4|anonychia/hyponychia congenita|anonychia congenita|RSPO4 isolated congenital anonychia|nail disorder, nonsyndromic congenital, type 4|NDNC4|isolated congenital anonychia caused by mutation in RSPO4|nonsyndromic congenital nail disorder type 4|anonychia congenita totalis|nail disorder, nonsyndromic congenital, 4; NDNC4|anonychia totalis ordo_clinical_subtype MONDO:0006137 cervical intraepithelial neoplasia grade 2/3 biolink:Disease mondo UMLS:C2986622|EFO:1000166|NCIT:C94676 A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia. UMLS:C2986622|NCIT:C94676 http://purl.obolibrary.org/obo/MONDO_0006137 CIN 2/3 MONDO:0008797 anodontia biolink:Disease mondo ICD9:520.0|GARD:0005818|COHD:440438|ICD10:K00.0|MESH:D000848|SCTID:16958000|MedDRA:10002583|DOID:13714|OMIM:206780|Orphanet:99797 Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth. MEDDRA:10002583|http://identifiers.org/omim/206780|SNOMEDCT:16958000|ORPHA:99797|MESH:D000848|DOID:13714 http://purl.obolibrary.org/obo/MONDO_0008797 complete absence of teeth|developmental absence of tooth|total anodontia of permanent and deciduous teeth|absence of permanent teeth|teeth, permanent, absence of|anodontia of permanent dentition gard_rare|ordo_morphological_anomaly MONDO:0006134 cervical adenosquamous carcinoma biolink:Disease mondo EFO:1000162|NCIT:C4519|SCTID:254888007|DOID:5636|ONCOTREE:CEAS|UMLS:C0346202 An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells. NCIT:C4519|UMLS:C0346202|SNOMEDCT:254888007|DOID:5636 http://purl.obolibrary.org/obo/MONDO_0006134 cervical adenosquamous cell carcinoma|cervical adenosquamous cancer|cervical adenosquamous carcinoma|adenosquamous carcinoma of cervix|uterine cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of cervix|cervix uteri adenosquamous cell carcinoma|adenosquamous cell carcinoma of the cervix|adenosquamous cell carcinoma of cervix uteri|adenosquamous cell carcinoma of the cervix uteri|cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of uterine cervix|adenosquamous cell carcinoma of the uterine cervix MONDO:0006135 cervical clear cell adenocarcinoma biolink:Disease mondo NCIT:C6344|UMLS:C1332912|DOID:5303|EFO:1000163|ONCOTREE:CECC A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES). NCIT:C6344|DOID:5303|UMLS:C1332912 http://purl.obolibrary.org/obo/MONDO_0006135 clear cell adenocarcinoma of uterine cervix|clear cell carcinoma of the cervix|clear cell adenocarcinoma of the cervix uteri|clear cell adenocarcinoma of the uterine cervix|uterine cervix clear cell adenocarcinoma|clear cell carcinoma of cervix uteri|cervix clear cell carcinoma|clear cell carcinoma of uterine cervix|clear cell carcinoma of the cervix uteri|clear cell carcinoma of the uterine cervix|cervix clear cell adenocarcinoma|cervical clear cell carcinoma|cervix uteri clear cell adenocarcinoma|clear cell adenocarcinoma of cervix|clear cell adenocarcinoma of the cervix|uterine cervix clear cell carcinoma|cervical clear cell adenocarcinoma|clear cell carcinoma of cervix|cervix uteri clear cell carcinoma|clear cell adenocarcinoma of cervix uteri MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome biolink:Disease mondo Orphanet:1064|MESH:C000598722|SCTID:733116005|GARD:0000690|UMLS:C1859782|ICD10:Q87.8|OMIM:206750 Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. http://identifiers.org/omim/206750|MESH:C000598722|SNOMEDCT:733116005|UMLS:C1859782|ORPHA:1064|MESH:C536371 http://purl.obolibrary.org/obo/MONDO_0008796 aniridia renal agenesis psychomotor retardation|Sommer Rathbun Battles syndrome|Sommer-Rathbun-Battles syndrome|aniridia partial with unilateral renal agenesis and psychomotor retardation|aniridia, partial, with unilateral renal agenesis and psychomotor retardation ordo_malformation_syndrome MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome biolink:Disease mondo ICD9:759.89|OMIM:206700|Orphanet:1065|MESH:C536370|UMLS:C0431401|SCTID:253176002|ICD10:G11.0|GARD:0000013 Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. UMLS:C0431401|http://identifiers.org/omim/206700|ORPHA:1065|MESH:C536370|SNOMEDCT:253176002 http://purl.obolibrary.org/obo/MONDO_0008795 aniridia, cerebellar ataxia, and intellectual disability|Gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation|GILLESPIE syndrome; GLSP|GLSP|aniridia, cerebellar ataxia and mental deficiency gard_rare|ordo_malformation_syndrome MONDO:0006132 cervical adenoid basal carcinoma biolink:Disease mondo ONCOTREE:CABC|EFO:1000160|NCIT:C40213|DOID:6428|UMLS:C1516403 A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations. UMLS:C1516403|NCIT:C40213|DOID:6428 http://purl.obolibrary.org/obo/MONDO_0006132 cervical adenoid basal cancer MONDO:0008794 anhidrosis, familial generalized, with abnormal or absent sweat glands biolink:Disease mondo UMLS:C4225670|OMIM:206600 http://identifiers.org/omim/206600|UMLS:C4225670 http://purl.obolibrary.org/obo/MONDO_0008794 anhidrosis, familial generalized, with abnormal or absent sweat glands MONDO:0006133 cervical adenoid cystic carcinoma biolink:Disease mondo EFO:1000161|ONCOTREE:CACC|DOID:4867|NCIT:C6346|UMLS:C1332911 A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present. NCIT:C6346|UMLS:C1332911|DOID:4867 http://purl.obolibrary.org/obo/MONDO_0006133 uterine cervix adenoid cystic carcinoma|cervix uteri adenoid cystic carcinoma|adenoid cystic carcinoma of cervix|adenoid cystic carcinoma of the cervix uteri|adenoid cystic carcinoma of the cervix|cervix adenoid cystic carcinoma|adenoid cystic carcinoma of cervix uteri|adenoid cystic carcinoma of uterine cervix|adenoid cystic carcinoma of the uterine cervix|cervical adenoid cystic cancer|cervical adenoid cystic carcinoma MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert biolink:Disease mondo OMIM:206570|GARD:0008587|UMLS:C1859783|MESH:C536367 http://identifiers.org/omim/206570|UMLS:C1859783|MESH:C536367 http://purl.obolibrary.org/obo/MONDO_0008793 Divry-Van Bogaert syndrome|Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin|angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert gard_rare MONDO:0006130 central nervous system neoplasm biolink:Disease mondo EFO:1000158|NCIT:C9293 A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia. NCIT:C9293 http://purl.obolibrary.org/obo/MONDO_0006130 central nervous system neoplasm (disease)|tumor of the CNS|neoplasm of central nervous system|tumor of CNS|central nervous system tumor|central nervous system neoplasm|CNS neoplasm|tumor of the central nervous system|tumor of central nervous system|neoplasm of CNS|brain/spinal cord tumor|neoplasm of the central nervous system|CNS tumor MONDO:0006131 cerebellar liponeurocytoma biolink:Disease mondo ONCOTREE:CLNC|ICDO:0000/0|Orphanet:251931|UMLS:C1370507|EFO:1000159|GARD:0010642|SCTID:716592003|DOID:6458|NCIT:C6905 A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO) NCIT:C6905|UMLS:C1370507|ORPHA:251931|DOID:6458|SNOMEDCT:716592003 http://purl.obolibrary.org/obo/MONDO_0006131 cerebellar liponeurocytoma (WHO grade II)|cerebellar liponeurocytoma|lipomatous medulloblastoma (formerly)|lipomatous medulloblastoma|CLNC gard_rare|ordo_disease MONDO:0008792 familial angiolipomatosis biolink:Disease mondo ICD10:D17.9|UMLS:C1859784|MESH:C565951|Orphanet:199279|OMIM:206550 Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously. http://identifiers.org/omim/206550|UMLS:C1859784|MESH:C565951|ORPHA:199279 http://purl.obolibrary.org/obo/MONDO_0008792 angiolipomatosis, familial|angiolipoma Microthromboticum ordo_disease MONDO:0008791 isolated anencephaly/exencephaly biolink:Disease mondo OMIM:206500|ICD10:Q00.0|SCTID:89369001|GARD:0005808|Orphanet:1048|ICD9:740.0 Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. http://identifiers.org/omim/206500|SNOMEDCT:89369001|ORPHA:1048 http://purl.obolibrary.org/obo/MONDO_0008791 absence of a large part of the brain and the skull|anencephaly|anencephaly; ANPH|ANPH ordo_morphological_anomaly MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism biolink:Disease mondo MESH:C565952|UMLS:C1859785|OMIM:206400 http://identifiers.org/omim/206400|UMLS:C1859785|MESH:C565952 http://purl.obolibrary.org/obo/MONDO_0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism FOODON:00002044 mollusc food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00002044 mollusk food product MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity biolink:Disease mondo UMLS:CN204507|ICD10:G11.8|SCTID:763348005|Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. UMLS:CN204507|ORPHA:352641|SNOMEDCT:763348005 http://purl.obolibrary.org/obo/MONDO_0018129 autosomal recessive cerebellar ataxia due to GBA2 deficiency ordo_disease MONDO:0018128 phalangeal microgeodic syndrome biolink:Disease mondo Orphanet:352636|UMLS:CN204506|ICD10:M89.5 Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure. UMLS:CN204506|ORPHA:352636 http://purl.obolibrary.org/obo/MONDO_0018128 phalangeal osteolysis ordo_disease MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation biolink:Disease mondo UMLS:CN204502|Orphanet:352587|ICD10:Q04.8 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed. UMLS:CN204502|ORPHA:352587 http://purl.obolibrary.org/obo/MONDO_0018125 focal epilepsy-intellectual disability-dysarthria-ataxia syndrome ordo_disease MONDO:0018124 Oncogenic osteomalacia biolink:Disease mondo SCTID:392559009|MESH:C537751|ICD10:M83.8|GARD:0009652|UMLS:C1274103|NCIT:C67235|Orphanet:352540 Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed. SNOMEDCT:392559009|UMLS:C1274103|NCIT:C67235|ORPHA:352540|MESH:C537751 http://purl.obolibrary.org/obo/MONDO_0018124 Oncogenic hypophosphatemic osteomalacia|TIO|tumor-induced osteomalacia|OO|OOM gard_rare|ordo_disease MONDO:0018127 16q24.1 microdeletion syndrome biolink:Disease mondo Orphanet:352629|ICD10:Q93.5|UMLS:CN204505 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). UMLS:CN204505|ORPHA:352629 http://purl.obolibrary.org/obo/MONDO_0018127 Del(16)(q24.1)|monosomy 16q24.1 ordo_disease MONDO:0018126 progressive myoclonic epilepsy with dystonia biolink:Disease mondo ICD10:G40.3|Orphanet:352596|SCTID:763349002 Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. ORPHA:352596|SNOMEDCT:763349002 http://purl.obolibrary.org/obo/MONDO_0018126 PMED|progressive myoclonus epilepsy with dystonia ordo_disease MONDO:0018121 mitochondrial DNA maintenance syndrome biolink:Disease mondo UMLS:CN204491|Orphanet:352456 An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. UMLS:CN204491|ORPHA:352456 http://purl.obolibrary.org/obo/MONDO_0018121 mtDNA maintenance syndrome|inborn error of mitochondrial genome maintenance|rare inborn error of mitochondrial genome maintenance|inborn mitochondrial genome maintenance disorder|rare inborn error of mitochondrial genome maintenance ordo_group_of_disorders HGNC:18234 MOCOS biolink:OntologyClass mondo http://identifiers.org/hgnc/18234 HP:0003187 Breast hypoplasia biolink:PhenotypicFeature mondo SNOMEDCT_US:8915006|UMLS:C0266013 Underdevelopment of the breast. http://purl.obolibrary.org/obo/HP_0003187 Underdeveloped breasts MONDO:0018120 disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement biolink:Disease mondo Orphanet:352312|UMLS:CN227267 ORPHA:352312|UMLS:CN227267 http://purl.obolibrary.org/obo/MONDO_0018120 ordo_group_of_disorders MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome biolink:Disease mondo UMLS:CN204496|ICD10:Q04.8|Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. UMLS:CN204496|ORPHA:352530 http://purl.obolibrary.org/obo/MONDO_0018123 autosomal recessive intellectual disability due to TRAPPC9 deficiency ordo_disease UBERON:5103625 manual digit 5 digitopodial skeleton biolink:AnatomicalEntity mondo A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 5 plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_5103625 manual digit V digitopodial skeleton|manual digit 5|manual digit 5 skeleton MONDO:0018122 digital anomalies-intellectual disability-short stature syndrome biolink:Disease mondo UMLS:CN204494|ICD10:Q87.2|Orphanet:352487 UMLS:CN204494|ORPHA:352487 http://purl.obolibrary.org/obo/MONDO_0018122 ordo_disease HGNC:18233 BANK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18233 MONDO:0021761 acral dysostosis dyserythropoiesis syndrome biolink:Disease mondo GARD:0000478 An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet. http://purl.obolibrary.org/obo/MONDO_0021761 gard_rare MONDO:0021762 acrocoxomesomelic dysplasia biolink:Disease mondo GARD:0000483 A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. http://purl.obolibrary.org/obo/MONDO_0021762 acro-coxo-mesomelic dwarfism gard_rare MONDO:0021764 acrofacial dysostosis preis type biolink:Disease mondo GARD:0000495 Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. http://purl.obolibrary.org/obo/MONDO_0021764 gard_rare|n_of_one MONDO:0006149 clear cell papillary cystadenoma biolink:Disease mondo EFO:1000181|UMLS:C1880102|ICDO:8443/0|NCIT:C65203 A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion. UMLS:C1880102|NCIT:C65203 http://purl.obolibrary.org/obo/MONDO_0006149 clear cell papillary cystadenoma MONDO:0021765 radiculitis biolink:Disease mondo UMLS:C0034544|SCTID:82473003|ICD9:729.2|NCIT:C78581 An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path. SNOMEDCT:82473003|NCIT:C78581|UMLS:C0034544 http://purl.obolibrary.org/obo/MONDO_0021765 Nerve Root Inflammations|Inflammation, Nerve Root|Radiculitides|Nerve Root Inflammation|Radiculitis|radiculitis MONDO:0006147 chronic eosinophilic leukemia, not otherwise specified biolink:Disease mondo NCIT:C4563|ONCOTREE:CELNOS|ICDO:9964/3|EFO:1000178 A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred. (WHO, 2001) NCIT:C4563 http://purl.obolibrary.org/obo/MONDO_0006147 chronic eosinophilic leukemia, not otherwise specified|CEL|chronic eosinophilic leukemia|chronic eosinophilic leukemia/hypereosinophilic syndrome|CELNOS|eosinophilic leukemia|chronic eosinophilic leukemia, NOS|CEL/hypereosinophilic syndrome MONDO:0006148 obsolete chronic neutrophilic leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006148 MONDO:0006145 chondroid chordoma biolink:Disease mondo UMLS:C1266173|DOID:4152|NCIT:C6902|ICDO:9371/3|EFO:1000174 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage. NCIT:C6902|UMLS:C1266173|DOID:4152 http://purl.obolibrary.org/obo/MONDO_0006145 chondroid chordoma (morphologic abnormality)|chondroid chordoma MONDO:0006146 chondroid hamartoma biolink:Disease mondo UMLS:C1707390|EFO:1000175|NCIT:C42589 A hamartoma that is characterized by the presence of chondroid elements. NCIT:C42589|UMLS:C1707390 http://purl.obolibrary.org/obo/MONDO_0006146 MONDO:0006143 cervical squamous cell carcinoma biolink:Disease mondo SCTID:254886006|ICD10:C53.0|ICD10:C53.1|UMLS:C0279671|DOID:3744|Orphanet:213767|NCIT:C4028|ONCOTREE:CESC|ICD10:C53.8|EFO:1000172 A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis. NCIT:C4028|UMLS:C0279671|ORPHA:213767|DOID:3744|SNOMEDCT:254886006 http://purl.obolibrary.org/obo/MONDO_0006143 CESC|squamous cell carcinoma of cervix uteri|squamous cell carcinoma of the cervix uteri|squamous cell carcinoma of uterine cervix|squamous cell carcinoma of the uterine cervix|cervical squamous cell carcinoma, not otherwise specified|squamous cervical cancer|uterine cervix squamous cell carcinoma|cervical squamous cell cancer|cervix squamous cell carcinoma|cervical squamous cell carcinoma, NOS|cervical squamous cell carcinoma|cervix uteri squamous cell carcinoma|squamous cell carcinoma of cervix|squamous cell carcinoma of the cervix ordo_disease MONDO:0006144 cervical Wilms tumor biolink:Disease mondo DOID:5190|UMLS:C1516437|EFO:1000173|NCIT:C40236 An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney. UMLS:C1516437|NCIT:C40236|DOID:5190 http://purl.obolibrary.org/obo/MONDO_0006144 cervical Wilms' tumor|cervical Wilms tumor MONDO:0006141 cervical villoglandular adenocarcinoma biolink:Disease mondo EFO:1000170|UMLS:C4289808|NCIT:C40208|ONCOTREE:VGCE|DOID:8338 A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern. DOID:8338|UMLS:C4289808|NCIT:C40208 http://purl.obolibrary.org/obo/MONDO_0006141 villoglandular variant cervical mucinous adenocarcinoma|cervical villoglandular adenocarcinoma|cervical adenocarcinoma, villoglandular variant|villoglandular adenocarcinoma of the cervix|cervical villoglandular carcinoma MONDO:0006142 cervical small cell carcinoma biolink:Disease mondo UMLS:C0279674|NCIT:C7982|ONCOTREE:SCCE|DOID:6740|EFO:1000171 A small cell carcinoma arising from the cervix. DOID:6740|UMLS:C0279674|NCIT:C7982 http://purl.obolibrary.org/obo/MONDO_0006142 cervix small cell carcinoma|small cell carcinoma of cervix|cervix uteri small cell carcinoma|small cell carcinoma of cervix uteri|small cell carcinoma of uterine cervix|small cell carcinoma of the uterine cervix|small cell carcinoma of the cervix|uterine cervix small cell carcinoma|Cervical small cell cancer|cervical small cell carcinoma|small cell carcinoma of the cervix uteri|SCCE MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant biolink:Disease mondo UMLS:C1516423|DOID:6627|EFO:1000169|NCIT:C40206 A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands. UMLS:C1516423|NCIT:C40206|DOID:6627 http://purl.obolibrary.org/obo/MONDO_0006140 cervical mucinous adenocarcinoma, minimal deviation variant|cervical mucinous adenocarcinoma, minimal deviation type|cervical adenoma malignum HGNC:33862 GRXCR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/33862 MONDO:0018118 disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement biolink:Disease mondo UMLS:CN227265|Orphanet:352306 ORPHA:352306|UMLS:CN227265 http://purl.obolibrary.org/obo/MONDO_0018118 ordo_group_of_disorders MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis biolink:Disease mondo UMLS:CN227264|Orphanet:352301 ORPHA:352301|UMLS:CN227264 http://purl.obolibrary.org/obo/MONDO_0018117 ordo_group_of_disorders MONDO:0018119 disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement biolink:Disease mondo UMLS:CN227266|Orphanet:352309 ORPHA:352309|UMLS:CN227266 http://purl.obolibrary.org/obo/MONDO_0018119 ordo_group_of_disorders HGNC:33867 SDHAF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/33867 MONDO:0018114 isolated brachycephaly biolink:Disease mondo ICD10:Q75.0|Orphanet:35099 Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges. ORPHA:35099 http://purl.obolibrary.org/obo/MONDO_0018114 non-syndromic bicoronal synostosis ordo_morphological_anomaly HGNC:18249 KCTD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18249 MONDO:0018113 isolated plagiocephaly biolink:Disease mondo ICD10:Q67.3|Orphanet:35098 Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry. ORPHA:35098 http://purl.obolibrary.org/obo/MONDO_0018113 non-syndromic unicoronal synostosis|synostotic plagiocephaly ordo_morphological_anomaly UBERON:5103635 pedal digit 5 digitopodial skeleton biolink:AnatomicalEntity mondo A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 5 plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_5103635 pedal digit 5 skeleton|pedal digit V digitopodial skeleton|pedal digit 5 MONDO:0018116 galactosemia biolink:Disease mondo ICD9:271.1|COHD:439788|UMLS:C0016952|NCIT:C84723|MESH:D005693|Orphanet:352|DOID:9870|OMIMPS:230400|MedDRA:10017604|GARD:0002424|ICD10:E74.2|ICD10:E74.21|SCTID:190745006 Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. MEDDRA:10017604|MESH:D005693|DOID:9870|NCIT:C84723|UMLS:C0016952|ORPHA:352|SNOMEDCT:190745006 http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia|galactosaemia|galactose intolerance ordo_group_of_disorders MONDO:0018115 epidermal nevus syndrome biolink:Disease mondo SCTID:239112008|Orphanet:35125|MedDRA:10014985|ICD10:Q85.8 A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities. ORPHA:35125|UMLS:C0334082|MEDDRA:10014985|SNOMEDCT:239112008|MESH:D054000|MESH:C536114 http://purl.obolibrary.org/obo/MONDO_0018115 Epidermal hamartoma syndrome ordo_disease MONDO:0021758 acquired agranulocytosis biolink:Disease mondo GARD:0005717|MESH:C538171|SCTID:72050006 Agranulocytosis that is autoimmune in origin. SNOMEDCT:72050006|MESH:C538171 http://purl.obolibrary.org/obo/MONDO_0021758 granulocytopenia, primary|neutropenia, malignant|agranulocytosis, acquired|agranulocytic angina gard_rare HGNC:18248 ELP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18248 MONDO:0018110 lethal idiopathic viral infection biolink:Disease mondo UMLS:CN776879|Orphanet:35064 ORPHA:35064|UMLS:CN776879 http://purl.obolibrary.org/obo/MONDO_0018110 ordo_disease MONDO:0021759 acquired fructose intolerance biolink:Disease mondo SCTID:413427002|GARD:0002399 Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications. SNOMEDCT:413427002 http://purl.obolibrary.org/obo/MONDO_0021759 fructose malabsorption|dietary fructose intolerance|intestinal fructose intolerance|acquired fructose intolerance gard_rare HP:0003198 Myopathy biolink:PhenotypicFeature mondo UMLS:C0026848|SNOMEDCT_US:129565002|MSH:D009135 A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. http://purl.obolibrary.org/obo/HP_0003198 Muscle tissue disease|Myopathic changes MONDO:0018112 isolated scaphocephaly biolink:Disease mondo ICD10:Q75.0|Orphanet:35093 Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture. ORPHA:35093 http://purl.obolibrary.org/obo/MONDO_0018112 isolated dolichocephaly|non-syndromic sagittal synostosis ordo_morphological_anomaly HGNC:18243 RCBTB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18243 MONDO:0018111 idiopathic severe pneumococcemia biolink:Disease mondo Orphanet:35065|ICD10:A40.3 ORPHA:35065 http://purl.obolibrary.org/obo/MONDO_0018111 ordo_disease HGNC:21862 DYNC2I1 biolink:OntologyClass mondo http://identifiers.org/hgnc/21862 MONDO:0021750 pyonephrosis biolink:Disease mondo NCIT:C123032|SCTID:48631008|MESH:D053018|UMLS:C0034216 Pus within the collecting system of the kidney. SNOMEDCT:48631008|MESH:D053018|UMLS:C0034216|NCIT:C123032 http://purl.obolibrary.org/obo/MONDO_0021750 pyonephrosis|Pyonephrosis|Infected Hydronephrosis|Hydronephrosis, Infected MONDO:0006118 breast fibrosis biolink:Disease mondo EFO:1000145|NCIT:C3660|COHD:75311|UMLS:C0156318|ICD9:610.3|DOID:10353|SCTID:29070004|ICD10:N60.3 Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma. UMLS:C0156318|SNOMEDCT:29070004|DOID:10353|NCIT:C3660 http://purl.obolibrary.org/obo/MONDO_0006118 breast fibrosis|fibrosclerosis of the breast|fibrosclerosis of breast|breast fibrosclerosis|fibrosis of the breast|fibrosis of breast MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma biolink:Disease mondo EFO:1000146|UMLS:C1332633|NCIT:C35688 An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor. NCIT:C35688|UMLS:C1332633 http://purl.obolibrary.org/obo/MONDO_0006119 breast mucosa-associated lymphoid tissue lymphoma|breast MALT lymphoma MONDO:0021752 Achard-Thiers syndrome biolink:Disease mondo GARD:0005709|SCTID:34041001|MESH:C536013|UMLS:C0271732 Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women UMLS:C0271732|MESH:C536013|SNOMEDCT:34041001 http://purl.obolibrary.org/obo/MONDO_0021752 diabetes in bearded women|diabetic-bearded woman syndrome|Achard Thiers syndrome gard_rare HGNC:21863 RBM28 biolink:OntologyClass mondo http://identifiers.org/hgnc/21863 MONDO:0008779 arthrogryposis biolink:Disease mondo NCIT:C84572|MESH:D001176|UMLS:C0003886|EFO:0003857 A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. NCIT:C84572|UMLS:C0003886|MESH:D001176 http://purl.obolibrary.org/obo/MONDO_0008779 Arthrogryposes, congenital multiple|congenital multiple Arthrogryposes|congenital multiple arthrogryposis MONDO:0006116 breast carcinoma by gene expression profile biolink:Disease mondo EFO:1000143|NCIT:C53553|UMLS:C3642344 A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma. UMLS:C3642344|NCIT:C53553 http://purl.obolibrary.org/obo/MONDO_0006116 breast carcinoma by gene expression profile MONDO:0006117 breast diffuse large B-cell lymphoma biolink:Disease mondo EFO:1000144|UMLS:C1511306|NCIT:C40375 A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma. UMLS:C1511306|NCIT:C40375 http://purl.obolibrary.org/obo/MONDO_0006117 diffuse large B-cell lymphoma of breast|breast DLBCL|breast diffuse large B-cell lymphoma MONDO:0008778 amyloidosis, cutaneous bullous biolink:Disease mondo ICD9:277.39|SCTID:38606009|MESH:C562644|OMIM:204900|UMLS:C0268399 SNOMEDCT:38606009|MESH:C562644|UMLS:C0268399|http://identifiers.org/omim/204900 http://purl.obolibrary.org/obo/MONDO_0008778 amyloidosis, cutaneous bullous MONDO:0008777 gelatinous drop-like corneal dystrophy biolink:Disease mondo Orphanet:98957|GARD:0009647|OMIM:204870|DOID:0060449|ICD10:H18.5|NCIT:C142805|MESH:C535480|UMLS:C0339273 Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. ORPHA:98957|MESH:C535480|DOID:0060449|NCIT:C142805|http://identifiers.org/omim/204870|UMLS:C0339273 http://purl.obolibrary.org/obo/MONDO_0008777 primary familial amyloidosis of the cornea|subepithelial amyloidosis of the cornea|lattice corneal dystrophy type 3|amyloidosis corneal|corneal dystrophy, gelatinous drop-like; GDLD|amyloid corneal dystrophy, Japanese type|Cdgdl|lattice corneal dystrophy, type 3|corneal dystrophy, lattice type 3|corneal dystrophy, gelatinous drop-like|amyloidosis, corneal|CDGDL|corneal amyloidosis|GDCD|gelatinous drop-like corneal dystrophy|GDLD gard_rare|ordo_disease MONDO:0043103 hypothyroidism due to iodide transport defect biolink:Disease mondo SCTID:22558005|NCIT:C121747|GARD:0002938|UMLS:C0271826 A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. UMLS:C0271826|NCIT:C121747|SNOMEDCT:22558005 http://purl.obolibrary.org/obo/MONDO_0043103 iodine transport defect|hypothyroidism due to iodide transport defect|iodide transport defect|iodide Transport defect|iodide transport failure|iodine accumulation defect|hypothyroidism due to iodide concentration defect gard_rare MONDO:0006114 obsolete bladder squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006114 MONDO:0008776 amyloidosis of gingiva and conjunctiva, with mental retardation biolink:Disease mondo OMIM:204850|MESH:C565958|GARD:0000657|UMLS:C1859815 MESH:C565958|UMLS:C1859815|http://identifiers.org/omim/204850 http://purl.obolibrary.org/obo/MONDO_0008776 amyloidosis of gingiva and conjunctiva with mental retardation|Hornova Dlushosova syndrome|amyloidosis of gingiva and conjunctiva with intellectual disability|amyloidosis of gingiva and conjunctiva, with mental retardation|amyloidosis of gingiva and conjunctiva, with intellectual disability gard_rare MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive biolink:Disease mondo EFO:1000131|NCIT:C9110|SCTID:413656006|MESH:D001752|UMLS:C0005699 An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001). UMLS:C0005699|SNOMEDCT:413656006|NCIT:C9110|MESH:D001752 http://purl.obolibrary.org/obo/MONDO_0006115 crises, blast|phases, blast|blast phase chronic myelogenous leukemia|blast phase chronic myelocytic leukemia|blast crisis|blastic phase chronic granulocytic leukemia|phase, blast|blastic phase chronic myelocytic leukemia|blastic phase chronic myeloid leukemia|blast phase CML|blast phase|blastic phase chronic myelogenous leukemia|crisis, blast|blast phases|blast phase chronic granulocytic leukemia|blast crises|blast phase chronic myeloid leukemia|blastic phase CML OBO:cl#has_completed has_completed biolink:OntologyClass mondo http://purl.obolibrary.org/obo/cl#has_completed MONDO:0006112 bladder inflammatory myofibroblastic tumor biolink:Disease mondo ONCOTREE:IMTB|NCIT:C6177|UMLS:C1336891|EFO:1000127 A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. NCIT:C6177|UMLS:C1336891 http://purl.obolibrary.org/obo/MONDO_0006112 inflammatory myofibroblastic neoplasm of the urinary bladder|bladder inflammatory myofibroblastic tumor|inflammatory myofibroblastic neoplasm of urinary bladder|inflammatory myofibroblastic tumor of the urinary bladder|inflammatory myofibroblastic tumor of urinary bladder|urinary bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic neoplasm of the bladder|inflammatory myofibroblastic neoplasm of bladder|inflammatory myofibroblastic tumor of the bladder|inflammatory myofibroblastic tumor of bladder|bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic bladder tumor|urinary bladder inflammatory myofibroblastic tumor HGNC:33848 COA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/33848 MONDO:0008775 Amobarbital, deficient N-hydroxylation of biolink:Disease mondo MESH:C565959|UMLS:C1859816|OMIM:204800 MESH:C565959|UMLS:C1859816|http://identifiers.org/omim/204800 http://purl.obolibrary.org/obo/MONDO_0008775 Amobarbital, deficient N-hydroxylation of MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria biolink:Disease mondo OMIM:204750|Orphanet:79154|ICD10:E72.3 ORPHA:79154|http://identifiers.org/omim/204750 http://purl.obolibrary.org/obo/MONDO_0008774 AMOXAD|Alpha-aminoadipic aciduria|2-aminoadipic 2-oxoadipic aciduria|2-aminoadipic 2-oxoadipic aciduria; AMOXAD ordo_disease MONDO:0006113 obsolete bladder small cell neuroendocrine carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006113 MONDO:0006110 obsolete bladder adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006110 MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis biolink:Disease mondo UMLS:C1859818|GARD:0000763|OMIM:204730|MESH:C565960 MESH:C565960|UMLS:C1859818|http://identifiers.org/omim/204730 http://purl.obolibrary.org/obo/MONDO_0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis|amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis gard_rare MONDO:0008772 amelogenesis imperfecta type 2A1 biolink:Disease mondo MESH:C567146|DOID:0110057|MESH:C538242|ICD10:K00.5|OMIM:204700|GARD:0009495 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene. MESH:C567146|MESH:C538242|http://identifiers.org/omim/204700|DOID:0110057 http://purl.obolibrary.org/obo/MONDO_0008772 amelogenesis imperfecta pigmented hypomaturation type|AI2A1|amelogenesis imperfecta, pigmented hypomaturation type, 1|amelogenesis imperfecta caused by mutation in KLK4|amelogenesis imperfecta, hypomaturation type, IIA1|amelogenesis imperfecta type IIA1|amelogenesis imperfecta, hypomaturation type, IIA1; AI2A1|KLK4 amelogenesis imperfecta|amelogenesis imperfecta pigmented hypomaturation type 1 gard_rare MONDO:0006111 bladder flat intraepithelial lesion biolink:Disease mondo EFO:1000126|DOID:5429|NCIT:C37266|UMLS:C1332559 A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ. NCIT:C37266|DOID:5429|UMLS:C1332559 http://purl.obolibrary.org/obo/MONDO_0006111 flat intraepithelial lesion of the bladder|bladder flat intraepithelial lesion|flat intraepithelial lesion of the urinary bladder|urinary bladder flat intraepithelial lesion MONDO:0008771 amelogenesis imperfecta type 1G biolink:Disease mondo MESH:C538241|ICD9:520.5|OMIM:204690|SCTID:109477002|Orphanet:1031|DOID:0110066|GARD:0009860|ICD10:K00.5|GARD:0000646 Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. UMLS:C0403549|UMLS:C2931783|SNOMEDCT:109477002|MESH:C538241|ORPHA:1031|http://identifiers.org/omim/204690|DOID:0110066 http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta caused by mutation in FAM20A|amelogenesis imperfecta, type Ig|amelogenesis imperfecta nephrocalcinosis|ers|amelogenesis imperfecta, type 1G|amelogenesis imperfecta-nephrocalcinosis syndrome|FAM20A amelogenesis imperfecta|generalized enamel hypoplasia and renal dysfunction|amelogenesis imperfecta, hypoplastic, with nephrocalcinosis|amelogenesis imperfecta type Ig|amelogenesis imperfecta, type Ig; AI1G|enamel-renal syndrome|amelogenesis imperfecta and gingival fibromatosis syndrome|amelogenesis imperfecta and nephrocalcinosis|AI1G|amelogenesis imperfecta hypoplastic type, Ig|enamel renal syndrome|AIGFS|amelogenesis imperfecta hypoplastic with nephrocalcinosis|enamel-renal-gingival syndrome|AI1G|absent enamel, nephrocalcinosis and apparently normal calcium metabolism ordo_malformation_syndrome MONDO:0043101 hypothalamic dysfunction biolink:Disease mondo GARD:0002932|SCTID:111568001 Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction. SNOMEDCT:111568001 http://purl.obolibrary.org/obo/MONDO_0043101 hypothalamic syndrome|hypothalamic dysfunction gard_rare MONDO:0008770 amelogenesis imperfecta type 1C biolink:Disease mondo DOID:0110056|ICD10:K00.5|UMLS:C2673923|MESH:C567147|OMIM:204650 UMLS:C2673923|MESH:C567147|http://identifiers.org/omim/204650|DOID:0110056 http://purl.obolibrary.org/obo/MONDO_0008770 autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion|amelogenesis imperfecta, type IC; AI1C|autosomal recessive amelogenesis imperfecta local hypoplastic type|amelogenesis imperfecta, local hypoplastic type, autosomal recessive|AI1C|amelogenesis imperfecta, type IC|amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive|amelogenesis imperfecta type IC|amelogenesis imperfecta, type 1C MONDO:0018107 idiopathic recurrent and disabling cutaneous herpes biolink:Disease mondo UMLS:CN204468|Orphanet:35061|ICD10:B00.1 ORPHA:35061|UMLS:CN204468 http://purl.obolibrary.org/obo/MONDO_0018107 ordo_disease MONDO:0018106 hereditary xanthinuria biolink:Disease mondo SCTID:54627004|HP:0010934|Orphanet:3467|ICD9:277.2|DOID:0060236|ICD10:E79.8 Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. DOID:0060236|ORPHA:3467|SNOMEDCT:54627004 http://purl.obolibrary.org/obo/MONDO_0018106 xanthic urolithiasis|hereditary xanthinuria|xanthine dehydrogenase deficiency|xanthinuria|xanthine oxidase deficiency|xanthine stone disease|classic xanthinuria ordo_disease MONDO:0018109 fulminant viral hepatitis biolink:Disease mondo Orphanet:35063|ICD10:K72 Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV. ORPHA:35063 http://purl.obolibrary.org/obo/MONDO_0018109 ordo_disease MONDO:0018108 idiopathic disseminated cytomegalovirus infection biolink:Disease mondo Orphanet:35062|UMLS:CN204469|ICD10:B25.8 ORPHA:35062|UMLS:CN204469 http://purl.obolibrary.org/obo/MONDO_0018108 idiopathic disseminated CMV infection ordo_disease MONDO:0018103 Quinquaud's folliculitis decalvans biolink:Disease mondo ICD10:L66.2|Orphanet:346|SCTID:53593008|GARD:0000373|UMLS:CN227263|ICD9:704.09 Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts. UMLS:CN227263|SNOMEDCT:53593008|ORPHA:346 http://purl.obolibrary.org/obo/MONDO_0018103 Quinquaud's decalvans folliculitis|folliculitis decalvans|Quinquaud's disease|Quinquaud’s disease ordo_disease|gard_rare MONDO:0018102 corneal dystrophy (disease) biolink:Disease mondo MESH:D003317|NCIT:C34513|ICD10:H18.5|Orphanet:34533|SCTID:5587004|UMLS:C0010036|ICD10:H18.50|HP:0001131|MedDRA:10011005|ICD9:371.5|ICD9:371.50|DOID:2566 The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. UMLS:C0010036|DOID:2566|MESH:D003317|MEDDRA:10011005|ORPHA:34533|SNOMEDCT:5587004|NCIT:C34513 http://purl.obolibrary.org/obo/MONDO_0018102 corneal dystrophy ordo_group_of_disorders MONDO:0021745 psychosocial short stature biolink:Disease mondo GARD:0009440|MESH:C535569|UMLS:C1455735|SCTID:39465007 A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress. UMLS:C1455735|MESH:C535569|SNOMEDCT:39465007 http://purl.obolibrary.org/obo/MONDO_0021745 abuse dwarfism syndrome|psychosocial dwarfism|child abuse dwarfism|Kaspar Hauser syndrome gard_rare MONDO:0018105 Wolfram syndrome biolink:Disease mondo ICD9:250.80|Orphanet:3463|DOID:10632|UMLS:C0043207|SCTID:70694009|ICD10:E13.8|UMLS:CN184630|MESH:D014929|NCIT:C35133|GARD:0007898 Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). SNOMEDCT:70694009|DOID:10632|UMLS:CN184630|ORPHA:3463|UMLS:C0043207|NCIT:C35133|MESH:D014929 http://purl.obolibrary.org/obo/MONDO_0018105 WFS|DIDMOAD|DIDMOAD syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome|diabetes mellitus and insipidus with optic atrophy and deafness|diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome ordo_disease MONDO:0021746 pyelocystitis biolink:Disease mondo EFO:1001835|MESH:D053653|UMLS:C0034184 UMLS:C0034184|MESH:D053653 http://purl.obolibrary.org/obo/MONDO_0021746 Pyelocystitis|Cystopyelitis MONDO:0018104 Torg-Winchester syndrome biolink:Disease mondo ICD10:M89.5|Orphanet:3460 UMLS:C1850155|ORPHA:3460|MESH:C536051 http://purl.obolibrary.org/obo/MONDO_0018104 Winchester syndrome ordo_clinical_subtype MONDO:0021747 Acanthamoeba infectious disease biolink:Disease mondo SCTID:49649001 A infectious disease involving the Acanthamoeba. SNOMEDCT:49649001 http://purl.obolibrary.org/obo/MONDO_0021747 Acanthamoeba infection|infections, Acanthamoeba|acanthamoebosis|acanthamoebiasis|infection caused by Acanthamoeba|infection by Acanthamoeba MONDO:0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia biolink:Disease mondo UMLS:CN204443|ICD10:E83.4|UMLS:C4510731|SCTID:725031005|Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. SNOMEDCT:725031005|UMLS:CN204443|UMLS:C4510731|ORPHA:34527 http://purl.obolibrary.org/obo/MONDO_0018101 ordo_disease MONDO:0018100 familial primary hypomagnesemia biolink:Disease mondo GARD:0002906|Orphanet:34526|SCTID:80710001|OMIMPS:602014|DOID:0060879|ICD10:E83.4|NCIT:C123263 A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. SNOMEDCT:80710001|DOID:0060879|NCIT:C123263|ORPHA:34526 http://purl.obolibrary.org/obo/MONDO_0018100 HOMG|familial primary hypomagnesemia|primary familial hypomagnesemia|hypomagnesemia ordo_group_of_disorders MONDO:0006129 obsolete central nervous system lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006129 MONDO:0021742 puerperal infection biolink:Disease mondo EFO:1001407|MESH:D011645|UMLS:C0034041 An infection occurring in puerperium, the period of 6-8 weeks after giving birth. MESH:D011645|UMLS:C0034041 http://purl.obolibrary.org/obo/MONDO_0021742 Infections, Puerperal|Puerperal Infection|Infection, Puerperal|Puerperal Infections MONDO:0006127 obsolete cecum villous adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006127 MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane biolink:Disease mondo OMIM:206300|UMLS:C1859786|MESH:C565953 MESH:C565953|http://identifiers.org/omim/206300|UMLS:C1859786 http://purl.obolibrary.org/obo/MONDO_0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane MONDO:0006128 central nervous system anaplastic large cell lymphoma biolink:Disease mondo UMLS:C1335476|NCIT:C5322|EFO:1000156 An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord. NCIT:C5322|UMLS:C1335476 http://purl.obolibrary.org/obo/MONDO_0006128 anaplastic large cell lymphoma of central nervous system|anaplastic central nervous system large cell lymphoma|anaplastic large cell lymphoma of the CNS|anaplastic large cell lymphoma of the central nervous system|anaplastic large cell lymphoma of CNS|central nervous system anaplastic large cell lymphoma|primary central nervous system anaplastic large cell lymphoma|anaplastic CNS large cell lymphoma|primary CNS anaplastic large cell lymphoma MONDO:0043114 Landy-Donnai syndrome biolink:Disease mondo MESH:C537266|UMLS:C2931460|GARD:0003172 MESH:C537266|UMLS:C2931460 http://purl.obolibrary.org/obo/MONDO_0043114 hydrops, ectrodactyly, syndactyly, duplication of the great toes gard_rare MONDO:0008788 IRIDA syndrome biolink:Disease mondo ICD10:D50.8|GARD:0010957|Orphanet:209981|OMIM:206200|SCTID:722005000|MESH:C562385 IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. MESH:C562385|http://identifiers.org/omim/206200|SNOMEDCT:722005000|ORPHA:209981 http://purl.obolibrary.org/obo/MONDO_0008788 iron-handling disorder, hereditary|iron-refractory iron deficiency anemia|iron-refractory iron deficiency anemia|pseudo-iron-deficiency Anemia|anemia, hypochromic microcytic, with defect in iron metabolism|IRIDA|iron-refractory iron deficiency anemia; IRIDA ordo_disease SO:0002072 sequence_comparison biolink:SequenceFeature mondo A position or feature where two sequences have been compared. http://purl.obolibrary.org/obo/SO_0002072 sequence comparison|INSDC_note:sequence_comparison|INSDC_feature:misc_feature MONDO:0006125 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006125 MONDO:0006126 cecum neuroendocrine tumor G1 biolink:Disease mondo EFO:1000154|NCIT:C5501|UMLS:C0854488 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. UMLS:C0854488|NCIT:C5501 http://purl.obolibrary.org/obo/MONDO_0006126 grade 1 neuroendocrine neoplasm of caecum|caecum NET G1|cecum NET G1|cecum neuroendocrine tumor G1|cecal carcinoid tumor|caecum neuroendocrine tumor, well differentiated, low grade|caecum carcinoid tumor|caecum carcinoid tumor|cecum carcinoid tumor|caecal carcinoid tumor|carcinoid tumor of the cecum|carcinoid tumor of cecum|caecum carcinoid tumor (disease)|caecum neuroendocrine neoplasm G1 MONDO:0008787 microcytic anemia with liver iron overload biolink:Disease mondo ICD10:D50.8|GARD:0012360|SCTID:711161006|Orphanet:83642|OMIM:206100 Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. ORPHA:83642|http://identifiers.org/omim/206100|SNOMEDCT:711161006 http://purl.obolibrary.org/obo/MONDO_0008787 hypochromic microcytic anemia with iron overload|AHMIO1|anemia, hypochromic microcytic, with iron overload 1|anemia, hypochromic microcytic, with iron overload type 1|anemia, hypochromic microcytic, with iron overload 1; AHMIO1|microcytic anemia and hepatic iron overload ordo_disease MONDO:0006123 cardiac rhabdomyoma (disease) biolink:Disease mondo HP:0009729|EFO:1000150|NCIT:C6739|UMLS:C1332852 A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis. NCIT:C6739|UMLS:C1332852 http://purl.obolibrary.org/obo/MONDO_0006123 rhabdomyoma of the heart|rhabdomyoma of heart|cardiac rhabdomyoma|heart rhabdomyoma GO:0043401 steroid hormone mediated signaling pathway biolink:OntologyClass mondo A series of molecular signals mediated by a steroid hormone binding to a receptor. http://purl.obolibrary.org/obo/GO_0043401 steroid hormone mediated signalling MONDO:0008786 pyridoxine-responsive sideroblastic anemia biolink:Disease mondo DOID:0060066|OMIM:206000|UMLS:C0272027|UMLS:C1859787|GARD:0009872|MESH:C565954|SCTID:191260004 MESH:C565954|DOID:0060066|SNOMEDCT:191260004|http://identifiers.org/omim/206000|UMLS:C0272027|UMLS:C1859787 http://purl.obolibrary.org/obo/MONDO_0008786 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive|anemia congenital sideroblastic B6-responsive|B6-responsive sideroblastic anemia|anemia, congenital sideroblastic, B6-responsive|sideroblastic anemia pyridoxine-responsive autosomal recessive MONDO:0043116 iida kannari syndrome biolink:Disease mondo GARD:0003249|UMLS:C2931159|MESH:C536284 MESH:C536284|UMLS:C2931159 http://purl.obolibrary.org/obo/MONDO_0043116 craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features gard_rare MONDO:0008785 sideroblastic anemia 2 biolink:Disease mondo MESH:C567145|DOID:0060065|GARD:0008249|OMIM:205950 DOID:0060065|MESH:C567145|http://identifiers.org/omim/205950 http://purl.obolibrary.org/obo/MONDO_0008785 pyridoxine refractory sideroblastic anemia|anemia, sideroblastic, 2, pyridoxine-refractory; SIDBA2|anemia, sideroblastic, pyridoxine-refractory, autosomal recessive|sideroblastic anemia pyridoxine-refractory autosomal recessive|anemia, sideroblastic, 2, pyridoxine-refractory|SIDBA2 MONDO:0006124 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006124 GO:0043400 cortisol secretion biolink:OntologyClass mondo The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. http://purl.obolibrary.org/obo/GO_0043400 hydrocortisone secretion MONDO:0006121 calcifying fibrous tumor biolink:Disease mondo NCIT:C6488|EFO:1000148|UMLS:C1332833 A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications. NCIT:C6488|UMLS:C1332833 http://purl.obolibrary.org/obo/MONDO_0006121 CFT|calcifying fibrous pseudotumor|calcifying fibrous tumor MONDO:0043110 jones hersh yusk syndrome biolink:Disease mondo MESH:C535885|UMLS:C2931054|GARD:0003055 MESH:C535885|UMLS:C2931054 http://purl.obolibrary.org/obo/MONDO_0043110 ptosis, ectropion, thin skin, beaked nose|aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly|aplasia cutis cleft palate epidermolysis gard_rare MONDO:0008784 obsolete autoimmune hemolytic anemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008784 MONDO:0008783 Tangier disease biolink:Disease mondo MedDRA:10051875|MESH:D013631|SCTID:723579009|OMIM:205400|GARD:0007731|NCIT:C85182|DOID:1388|Orphanet:31150|ICD10:E78.6|UMLS:C0039292 Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. NCIT:C85182|DOID:1388|SNOMEDCT:723579009|http://identifiers.org/omim/205400|UMLS:C0039292|ORPHA:31150|MESH:D013631|MEDDRA:10051875 http://purl.obolibrary.org/obo/MONDO_0008783 HDL lipoprotein deficiency disease|Analphalipoproteinemia|Tangier disease; tgd|defective adenosine triphosphate-binding cassette transporter A1|HDLDT1|cholesterol thesaurismosis|tgd|Tangier disease|A-alphalipoprotein neuropathy|Analphalipo-proteinemia|familial high density lipoprotein deficiency disease|high density lipoprotein deficiency, type 1|Alpha high density lipoprotein deficiency disease|familial hypoalphalipoproteinemia|high density lipoprotein deficiency, Tangier type|ATP-binding cassette transporter A1 deficiency|familial high density lipoprotein deficiency|familial alpha-lipoprotein deficiency|familial Hypoalphalipo-proteinemia ordo_disease MONDO:0006122 calcifying nested epithelial stromal tumor of the liver biolink:Disease mondo ICDO:8975/1|UMLS:C3273067|NCIT:C96830|EFO:1000149 A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present. UMLS:C3273067|NCIT:C96830 http://purl.obolibrary.org/obo/MONDO_0006122 MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies biolink:Disease mondo OMIM:205250|MESH:C565955|UMLS:C1859805 http://identifiers.org/omim/205250|UMLS:C1859805|MESH:C565955 http://purl.obolibrary.org/obo/MONDO_0008782 amyotrophic lateral sclerosis with polyglucosan bodies MONDO:0043112 lachiewicz sibley syndrome biolink:Disease mondo GARD:0003157|MESH:C538131|UMLS:C2931742 UMLS:C2931742|MESH:C538131 http://purl.obolibrary.org/obo/MONDO_0043112 hereditary renal disease and preauricular pits gard_rare MONDO:0006120 C-cell hyperplasia biolink:Disease mondo UMLS:C0342190|EFO:1000147|NCIT:C46100 Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism). NCIT:C46100|UMLS:C0342190 http://purl.obolibrary.org/obo/MONDO_0006120 C-cell hyperplasia MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia biolink:Disease mondo OMIM:205200|DOID:0110067|MESH:C565956|UMLS:C1859806 A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. http://identifiers.org/omim/205200|UMLS:C1859806|DOID:0110067|MESH:C565956 http://purl.obolibrary.org/obo/MONDO_0008781 ALS-dementia Complex|amyotrophic lateral sclerosis, juvenile, with dementia|ALS-dementia complex MONDO:0008780 amyotrophic lateral sclerosis type 2 biolink:Disease mondo OMIM:205100|ICD10:G12.2|DOID:0060194|MESH:C565957|GARD:0009470 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene. http://identifiers.org/omim/205100|MESH:C565957|DOID:0060194 http://purl.obolibrary.org/obo/MONDO_0008780 ALS2|ALS2 amyotrophic lateral sclerosis|ALS, juvenile|amyotrophic lateral sclerosis caused by mutation in ALS2|amyotrophic lateral sclerosis 2|amyotrophic lateral sclerosis 2, juvenile|amyotrophic lateral sclerosis 2, juvenile; ALS2 gard_rare MONDO:0043106 ichthyosis linearis circumflexa biolink:Disease mondo GARD:0002967|SCTID:54336006 SNOMEDCT:54336006 http://purl.obolibrary.org/obo/MONDO_0043106 ichthyosis linearis circumflexa gard_rare MONDO:0043108 infantile striato thalamic degeneration biolink:Disease mondo Orphanet:1575|GARD:0003004 ORPHA:1575 http://purl.obolibrary.org/obo/MONDO_0043108 gard_rare MONDO:0021736 proctosigmoiditis biolink:Disease mondo NCIT:C34950|SCTID:41364008|UMLS:C0033252|ICD9:569.89 Inflammation of the sigmoid colon and rectum. UMLS:C0033252|SNOMEDCT:41364008|NCIT:C34950 http://purl.obolibrary.org/obo/MONDO_0021736 Proctosigmoiditis|proctosigmoiditis|rectosigmoiditis|Rectosigmoiditis HGNC:21869 AGK biolink:OntologyClass mondo http://identifiers.org/hgnc/21869 MONDO:0021739 prurigo biolink:Disease mondo SCTID:64144002|ICD9:698.2|UMLS:C0033771|ICD9:698.8|MESH:D011536 A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed) MESH:D011536|UMLS:C0033771|SNOMEDCT:64144002 http://purl.obolibrary.org/obo/MONDO_0021739 prurigo|Itchy skin eruption|Prurigo|Pruritic rash|itchy skin eruption|pruritic rash MONDO:0018161 non-hereditary retinoblastoma biolink:Disease mondo ICD10:C69.2|UMLS:CN204600|Orphanet:357034 ORPHA:357034|UMLS:CN204600 http://purl.obolibrary.org/obo/MONDO_0018161 ordo_clinical_subtype MONDO:0018160 hereditary retinoblastoma biolink:Disease mondo ICD10:C69.2|Orphanet:357027|NCIT:C8495|DOID:4648 An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. ORPHA:357027|NCIT:C8495|DOID:4648 http://purl.obolibrary.org/obo/MONDO_0018160 familial retinoblastoma|hereditary retinoblastoma ordo_clinical_subtype MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation biolink:Disease mondo Orphanet:512260 A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume. ORPHA:512260 http://purl.obolibrary.org/obo/MONDO_0033717 ordo_disease MONDO:0018163 autosomal recessive cutis laxa type 2A biolink:Disease mondo DOID:0070134|ICD10:Q82.8|Orphanet:357058 An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. ORPHA:357058|DOID:0070134 http://purl.obolibrary.org/obo/MONDO_0018163 autosomal recessive cutis laxa type IIA|ARCL2A ordo_disease MONDO:0018162 neurometabolic disorder due to serine deficiency biolink:Disease mondo Orphanet:35705|ICD10:E72.8|UMLS:CN227274 Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency. ORPHA:35705|UMLS:CN227274 http://purl.obolibrary.org/obo/MONDO_0018162 serine deficiency ordo_group_of_disorders MONDO:0006178 dedifferentiated solitary fibrous tumor biolink:Disease mondo EFO:1000214|UMLS:C2699572|NCIT:C79948 A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma. NCIT:C79948|UMLS:C2699572 http://purl.obolibrary.org/obo/MONDO_0006178 GO:0043412 macromolecule modification biolink:OntologyClass mondo The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. http://purl.obolibrary.org/obo/GO_0043412 MONDO:0006179 desmoplastic ameloblastoma biolink:Disease mondo UMLS:C0457533|EFO:1000215|NCIT:C39758 An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands. UMLS:C0457533|NCIT:C39758 http://purl.obolibrary.org/obo/MONDO_0006179 desmoplastic ameloblastoma MONDO:0006176 cribriform carcinoma biolink:Disease mondo ICDO:8201/3|EFO:1000210|NCIT:C3680|UMLS:C0205643 A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. NCIT:C3680|UMLS:C0205643 http://purl.obolibrary.org/obo/MONDO_0006176 cribriform carcinoma MONDO:0006177 obsolete cutaneous undifferentiated pleomorphic sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006177 MONDO:0006174 cortisol-producing adrenal cortex adenoma biolink:Disease mondo UMLS:C1707525|NCIT:C48449|EFO:1000208 An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. NCIT:C48449|UMLS:C1707525 http://purl.obolibrary.org/obo/MONDO_0006174 cortisol producing adrenal cortical adenoma|cortisol producing adrenal cortex adenoma|cortisol-producing adrenal cortex adenoma MONDO:0006175 obsolete craniopharyngioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006175 MONDO:0006172 conjunctival nevus biolink:Disease mondo SCTID:255006004|NCIT:C4551|DOID:0050906|UMLS:C0346363|EFO:1000205 A benign melanocytic neoplasm that arises from the conjunctiva. SNOMEDCT:255006004|DOID:0050906|NCIT:C4551|UMLS:C0346363 http://purl.obolibrary.org/obo/MONDO_0006172 conjunctival nevus|Nevus of the conjunctiva|Nevus of conjunctiva MONDO:0006173 conjunctival squamous cell carcinoma biolink:Disease mondo SCTID:255003007|NCIT:C4549|UMLS:C0346359|DOID:1748|EFO:1000206 A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain. SNOMEDCT:255003007|DOID:1748|NCIT:C4549|UMLS:C0346359 http://purl.obolibrary.org/obo/MONDO_0006173 conjunctival squamous cell carcinoma|ocular surface squamous neoplasia|conjunctiva squamous cell carcinoma|invasive squamous cell carcinoma of the conjunctiva|conjunctival squamous cell cancer|conjunctiva epidermoid carcinoma|conjunctival epidermoid carcinoma|epidermoid carcinoma of the conjunctiva|epidermoid carcinoma of conjunctiva|squamous cell carcinoma of conjunctiva|squamous cell carcinoma of the conjunctiva UBERON_CORE:transitively_proximally_connected_to transitively proximally connected to biolink:OntologyClass mondo . http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to MONDO:0006170 conjunctival disorder biolink:Disease mondo NCIT:C27605|MONDO:0002932|EFO:1000203 Any disorder of the conjunctiva. NCIT:C27605 http://purl.obolibrary.org/obo/MONDO_0006170 conjunctiva disease|disease or disorder of conjunctiva|conjunctival disease|conjunctiva disease or disorder|conjunctival disorder|disease of conjunctiva|disorder of conjunctiva MONDO:0006171 obsolete conjunctival melanoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006171 GO:0043413 macromolecule glycosylation biolink:OntologyClass mondo The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. http://purl.obolibrary.org/obo/GO_0043413 MONDO:0018169 morning glory syndrome biolink:Disease mondo UMLS:C0549307|MedDRA:10027974|Orphanet:35737|GARD:0013354|ICD10:Q14.2 Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies. UMLS:C0549307|ORPHA:35737|MEDDRA:10027974 http://purl.obolibrary.org/obo/MONDO_0018169 Volubilis syndrome|Ectasic coloboma gard_rare|ordo_morphological_anomaly MONDO:0018168 primary non-essential cutis verticis gyrata biolink:Disease mondo UMLS:CN204616|Orphanet:357225|ICD10:Q82.8 ORPHA:357225|UMLS:CN204616 http://purl.obolibrary.org/obo/MONDO_0018168 ordo_disease MONDO:0018165 venous thoracic outlet syndrome biolink:Disease mondo SCTID:25981000119102|ICD10:G54.0|UMLS:C1956396|Orphanet:357131 Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis. ORPHA:357131|UMLS:C1956396|SNOMEDCT:25981000119102 http://purl.obolibrary.org/obo/MONDO_0018165 Venous scalenus anticus syndrome|effort subclavian vein thrombosis|Venous cervical rib syndrome|Paget-Schrotter disease|Venous hyperabduction syndrome|Venous TOS|Venous thoracic outlet compression syndrome|VTOS|Venous costoclavicular syndrome ordo_clinical_subtype MONDO:0018164 arterial thoracic outlet syndrome biolink:Disease mondo UMLS:C1956395|Orphanet:357107|ICD10:G54.0|SCTID:8051000119105 Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia. ORPHA:357107|UMLS:C1956395|SNOMEDCT:8051000119105 http://purl.obolibrary.org/obo/MONDO_0018164 arterial scalenus anticus syndrome|arterial cervical rib syndrome|arterial thoracic outlet compression syndrome|arterial TOS|arterial hyperabduction syndrome|ATOS|arterial costoclavicular syndrome ordo_clinical_subtype MONDO:0018167 primary essential cutis verticis gyrata biolink:Disease mondo SCTID:765135003|UMLS:CN204615|Orphanet:357220|ICD10:Q82.8 Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes. ORPHA:357220|SNOMEDCT:765135003|UMLS:CN204615 http://purl.obolibrary.org/obo/MONDO_0018167 ordo_disease MONDO:0018166 oral submucous fibrosis biolink:Disease mondo GARD:0007264|ICD10:K13.5|ICD9:528.8|EFO:1001818|UMLS:C0029172|UMLS:C0029171|DOID:5773|SCTID:32883009|NCIT:C34866|Orphanet:357154|MESH:D009914 Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment. MESH:D009914|ORPHA:357154|DOID:5773|NCIT:C34866|SNOMEDCT:32883009|UMLS:C0029172|UMLS:C0029171 http://purl.obolibrary.org/obo/MONDO_0018166 oral submucosal fibrosis|OSMF|oral submucosal fibrosis, including of tongue|oral cavity submucous fibrosis ordo_disease|gard_rare MONDO:0018150 Gaucher disease biolink:Disease mondo MESH:D005776|MedDRA:10018048|GARD:0008233|SCTID:190794006|DOID:1926|Orphanet:355|NCIT:C61268|ICD10:E75.2|UMLS:C0017205|ICD10:E75.22 Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). MEDDRA:10018048|ORPHA:355|NCIT:C61268|UMLS:C0017205|MESH:D005776|DOID:1926|SNOMEDCT:190794006 http://purl.obolibrary.org/obo/MONDO_0018150 Gaucher syndrome|Gaucher splenomegaly|glucosylceramidase deficiency|kerasin lipoidosis|acute cerebral Gaucher disease|cerebroside lipidosis syndrome|lipoid histiocytosis (kerasin type)|glucosylceramide beta-glucosidase deficiency|glucocerebrosidosis|kerasin histiocytosis|acid beta-glucosidase deficiency|lipoid histiocytosis|Gaucher disease|glocucerebrosidase deficiency|glucocerebrosidase deficiency|kerasin thesaurismosis|glucosyl cerebroside lipidosis|Gaucher's disease|sphingolipidosis 1 ordo_disease MONDO:0018152 serpiginous choroiditis biolink:Disease mondo ICD10:H30.8|UMLS:C0729842|SCTID:312491004|ICD9:363.8|GARD:0000031|Orphanet:35686 Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications. SNOMEDCT:312491004|UMLS:C0729842|ORPHA:35686 http://purl.obolibrary.org/obo/MONDO_0018152 geographic serpiginous choroiditis|peripapillary choriopathy|serpiginous choroidopathy|geographic choroiditis|geographic helicoid peripapillary choroidopathy (GHPC)|geographic helicoid peripapillary choroidopathy gard_rare|ordo_disease MONDO:0018151 coenzyme Q10 deficiency biolink:Disease mondo MESH:C564403|GARD:0010423|UMLS:C1843920|DOID:0050730|NCIT:C142083|SCTID:724575009|OMIMPS:607426|Orphanet:35656|UMLS:CN229570 A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. SNOMEDCT:724575009|DOID:0050730|UMLS:C1843920|MESH:C564403|NCIT:C142083|ORPHA:35656|UMLS:CN229570 http://purl.obolibrary.org/obo/MONDO_0018151 CoQ10 deficiency|CoQ10 deficiency, primary|coenzyme Q10 deficiency, primary|coenzyme Q10 deficiency disease ordo_group_of_disorders|gard_rare NCBITaxon:476427 Xenopsyllinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_476427 MONDO:0006189 eccrine porocarcinoma biolink:Disease mondo SCTID:254708001|UMLS:C1266065|ICDO:8409/3|DOID:7566|MESH:D057090|ONCOTREE:POCA|EFO:1000229|NCIT:C5560|GARD:0007431 A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites. DOID:7566|UMLS:C1266065|SNOMEDCT:254708001|NCIT:C5560|MESH:D057090 http://purl.obolibrary.org/obo/MONDO_0006189 eccrine porocarcinoma|porocarcinoma|epidermotropic eccrine carcinoma|eccrine porocarcinoma of skin|porocarcinoma/spiroadenocarcinoma|malignant eccrine poroma gard_rare MONDO:0006187 duodenal villous adenoma biolink:Disease mondo EFO:1000225|NCIT:C5338|DOID:0050927|UMLS:C1333322 A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. UMLS:C1333322|DOID:0050927|NCIT:C5338 http://purl.obolibrary.org/obo/MONDO_0006187 villous adenoma, duodenum|duodenal villous adenoma|duodenum villous adenoma|duodenum adenoma|villous adenoma of duodenum|villous adenoma of the duodenum MONDO:0006188 EBV-positive T-cell lymphoproliferative disorder of childhood biolink:Disease mondo NCIT:C80373|UMLS:C2699838|EFO:1000228 An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma. NCIT:C80373|UMLS:C2699838 http://purl.obolibrary.org/obo/MONDO_0006188 EBV-positive T-cell lymphoproliferative disease of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0006185 ductal or ductular proliferation biolink:Disease mondo EFO:1000222 A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver. NCIT:C111786 http://purl.obolibrary.org/obo/MONDO_0006185 MONDO:0006186 duodenal adenocarcinoma biolink:Disease mondo EFO:1000223|SCTID:408644002|NCIT:C7889|UMLS:C0278804|ONCOTREE:DA|DOID:10816 A carcinoma that arises from glandular epithelial cells of the duodenum. UMLS:C0278804|NCIT:C7889|SNOMEDCT:408644002|DOID:10816 http://purl.obolibrary.org/obo/MONDO_0006186 adenocarcinoma of the duodenum|duodenal adenocarcinoma|duodenum adenocarcinoma|adenocarcinoma of duodenum MONDO:0006183 disseminated peritoneal leiomyomatosis biolink:Disease mondo ICD10:D20.1|EFO:1000220|Orphanet:71274|UMLS:C0267785|NCIT:C3958|SCTID:62557001|GARD:0012843|DOID:5728 A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously. DOID:5728|ORPHA:71274|SNOMEDCT:62557001|NCIT:C3958|UMLS:C0267785 http://purl.obolibrary.org/obo/MONDO_0006183 DPL|LPD|diffuse peritoneal leiomyomatosis|leiomyomatosis peritonealis disseminate|disseminated peritoneal leiomyomatosis|leiomyomatosis peritonealis disseminata ordo_disease NCBITaxon:439488 ssRNA viruses organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_439488 MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ biolink:Disease mondo EFO:1000221|NCIT:C4195|UMLS:C0334383|ICDO:8522/2 The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion. NCIT:C4195|UMLS:C0334383 http://purl.obolibrary.org/obo/MONDO_0006184 non-infiltrating ductal with non-infiltrating lobular carcinoma of breast|ductal and lobular breast carcinoma in situ|ductal and lobular carcinoma in situ of breast|non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast|non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma|non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast|non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast|ductal and lobular carcinoma in situ of the breast|intraductal and lobular carcinoma in situ of breast|intraductal and lobular carcinoma in situ of the breast|non-infiltrating ductal and non-infiltrating lobular breast carcinoma|non-invasive ductal and non-invasive lobular breast carcinoma|non-invasive ductal with non-invasive lobular breast carcinoma|non-invasive ductal and non-invasive lobular carcinoma|intraductal carcinoma and lobular carcinoma in situ|DCIS and LCIS of breast|DCIS and LCIS of the breast|ductal carcinoma in situ with lobular carcinoma in situ of breast|ductal carcinoma in situ with lobular carcinoma in situ of the breast|intraductal and lobular breast carcinoma in situ MONDO:0006181 digestive system carcinoma biolink:Disease mondo UMLS:C0151544|EFO:1000218|HP:0002672|NCIT:C96963|DOID:0050922 A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma. DOID:0050922|NCIT:C96963|UMLS:C0151544 http://purl.obolibrary.org/obo/MONDO_0006181 gastrointestinal system carcinoma|carcinoma of digestive system|gastrointestinal carcinoma (disease)|digestive system carcinoma|carcinoma of the gastrointestinal system|gastrointestinal carcinoma MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma biolink:Disease mondo ICDO:8244/3|UMLS:C2987129|EFO:1000219|NCIT:C95406 A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made. UMLS:C2987129|NCIT:C95406 http://purl.obolibrary.org/obo/MONDO_0006182 digestive system Mixed Adenoneuroendocrine cancer|mixed Adenoneuroendocrine carcinoma|gastrointestinal mixed Adenoneuroendocrine carcinoma|MANEC|digestive system mixed adenoneuroendocrine carcinoma|gastrointestinal MANEC MONDO:0006180 digestive system adenoma biolink:Disease mondo DOID:4147|UMLS:C0948101|EFO:1000217|NCIT:C36207 A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation. DOID:4147|UMLS:C0948101|NCIT:C36207 http://purl.obolibrary.org/obo/MONDO_0006180 gastrointestinal adenoma|GI adenoma|digestive system adenoma|digestive tract adenoma MONDO:0018158 mitochondrial DNA depletion syndrome biolink:Disease mondo OMIMPS:603041|UMLS:CN239350|ICD10:G71.3|MedDRA:10059396|DC:0000284|Orphanet:35698 The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. ORPHA:35698|UMLS:CN239350|MEDDRA:10059396|UMLS:C0342782 http://purl.obolibrary.org/obo/MONDO_0018158 mtDNA depletion syndrome ordo_group_of_disorders MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis biolink:Disease mondo UMLS:CN227273|ICD10:E88.8|Orphanet:35696 ORPHA:35696|UMLS:CN227273 http://purl.obolibrary.org/obo/MONDO_0018157 combined OXPHOS defect|combined oxidative phosphorylation defect|combined OXPHOS deficiency|COXPD ordo_group_of_disorders MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency biolink:Disease mondo ICD10:D58.8|Orphanet:357008|UMLS:CN204596 UMLS:CN204596|ORPHA:357008 http://purl.obolibrary.org/obo/MONDO_0018159 hemolytic-uremic syndrome without diarrhea with DGKE deficiency|D-HUS with DGKE deficiency|atypical HUS with DGKE deficiency|aHUS with DGKE deficiency ordo_etiological_subtype MONDO:0018154 Madelung deformity biolink:Disease mondo SCTID:4530000|MedDRA:10007700|ICD9:755.54|GARD:0012973|ICD10:Q74.0|Orphanet:35688 Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow. UMLS:C0152441|MEDDRA:10007700|SNOMEDCT:4530000|ORPHA:35688 http://purl.obolibrary.org/obo/MONDO_0018154 ordo_morphological_anomaly MONDO:0018153 Erdheim-Chester disease biolink:Disease mondo DOID:4329|NCIT:C53972|MedDRA:10060801|ICD9:277.89|GARD:0006369|ONCOTREE:ECD|EFO:1000926|UMLS:C0878675|Orphanet:35687|ICD10:D76.3|MESH:D031249|SCTID:699537002 Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. MESH:D031249|NCIT:C53972|DOID:4329|SNOMEDCT:699537002|UMLS:C0878675|MEDDRA:10060801|ORPHA:35687 http://purl.obolibrary.org/obo/MONDO_0018153 lipoid granulomatosis|lipogranulomatosis|ECD|Erdheim Chester disease|polyostotic sclerosing histiocytosis|Erdheim-Chester disease ordo_disease MONDO:0018156 3q26q27 microdeletion syndrome biolink:Disease mondo UMLS:CN204590|Orphanet:356947|ICD10:Q93.5 ORPHA:356947|UMLS:CN204590 http://purl.obolibrary.org/obo/MONDO_0018156 monosomy 3q26-q27|monosomy 3q26q27|3q26-q27microdeletion syndrome|Del(3)(q26q27) ordo_malformation_syndrome MONDO:0018155 lateral sclerosis biolink:Disease mondo Orphanet:35689|DOID:230|ICD10:G12.29|NCIT:C129933|COHD:381003|ICD9:335.24|GARD:0010684|SCTID:81211007|UMLS:C0154682|ICD10:G12.2|MedDRA:10036704 Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. DOID:230|MEDDRA:10036704|NCIT:C129933|SNOMEDCT:81211007|UMLS:C0154682|ORPHA:35689 http://purl.obolibrary.org/obo/MONDO_0018155 adult-onset primary lateral sclerosis|PLS|primary lateral sclerosis|adult-onset PLS ordo_disease MONDO:0018141 pyruvate carboxylase deficiency, infantile form biolink:Disease mondo UMLS:CN204538|ICD10:E74.4|Orphanet:353308 Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. UMLS:CN204538|ORPHA:353308 http://purl.obolibrary.org/obo/MONDO_0018141 pyruvate carboxylase deficiency, infantile type|pyruvate carboxylase deficiency type A ordo_clinical_subtype MONDO:0018140 obsolete burning mouth syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018140 MONDO:0006158 colorectal diffuse large B-cell lymphoma biolink:Disease mondo EFO:1000191|NCIT:C96503|UMLS:C3272827 A diffuse large B-cell lymphoma that arises from the colon or rectum. NCIT:C96503|UMLS:C3272827 http://purl.obolibrary.org/obo/MONDO_0006158 colorectum diffuse large B-cell lymphoma|colorectal diffuse large B-cell lymphoma|colorectal DLBCL|diffuse large B-cell lymphoma of colorectum MONDO:0006159 colorectal gastrointestinal stromal tumor biolink:Disease mondo EFO:1000192|UMLS:C1333109|NCIT:C27735 A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course. NCIT:C27735|UMLS:C1333109 http://purl.obolibrary.org/obo/MONDO_0006159 colorectal gastrointestinal stromal tumor (gist)|colorectal (colon or rectal) gastrointestinal stromal tumor (gist)|colorectal gastrointestinal stromal tumor|colorectal gist GO:0043434 response to peptide hormone biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone stimulus|response to polypeptide hormone stimulus MONDO:0006156 colon sessile serrated adenoma/polyp biolink:Disease mondo NCIT:C96464|EFO:1000189|UMLS:C3272791 A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability. NCIT:C96464|UMLS:C3272791 http://purl.obolibrary.org/obo/MONDO_0006156 colon SSA/P|colon sessile serrated adenoma/polyp|colon SSA|colon SSP|colon sessile serrated adenoma|colon sessile serrated polyp MONDO:0006157 colorectal adenosquamous carcinoma biolink:Disease mondo EFO:1000190|NCIT:C43589|UMLS:C1707437 An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. NCIT:C43589|UMLS:C1707437 http://purl.obolibrary.org/obo/MONDO_0006157 colorectal adenosquamous cancer|colorectal (colon or rectal) adenosquamous cancer|colorectal adenosquamous carcinoma|colorectum adenosquamous carcinoma GO:0043433 negative regulation of DNA-binding transcription factor activity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. http://purl.obolibrary.org/obo/GO_0043433 negative regulation of thyroid hormone receptor activity|negative regulation of transcription factor activity|down-regulation of transcription factor activity|negative regulation of androgen receptor activity|down regulation of transcription factor activity|negative regulation of DNA binding transcription factor activity|negative regulation of sequence-specific DNA binding transcription factor activity|downregulation of transcription factor activity|inhibition of transcription factor activity MONDO:0006154 colon mucosa-associated lymphoid tissue lymphoma biolink:Disease mondo UMLS:C1333096|NCIT:C5498|EFO:1000186 An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon. UMLS:C1333096|NCIT:C5498 http://purl.obolibrary.org/obo/MONDO_0006154 MALT lymphoma of the colon|colonic MALT lymphoma|MALT lymphoma of colon|colon MALToma|MALToma of the colon|colonic MALToma|MALToma of colon|colon MALT lymphoma|colonic mucosa-associated lymphoid tissue lymphoma MONDO:0006155 colon neuroendocrine tumor G1 biolink:Disease mondo NCIT:C5497|EFO:1000188 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. NCIT:C5497 http://purl.obolibrary.org/obo/MONDO_0006155 colon carcinoid tumor|colon neuroendocrine neoplasm G1|colon neuroendocrine tumor G1|colon carcinoid tumor|colon NET G1|carcinoid tumor of the colon|carcinoid tumor of colon|colon neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of colon|colon carcinoid tumor (disease)|colonic carcinoid tumor MONDO:0006152 colon inflammatory polyp biolink:Disease mondo EFO:1000184|UMLS:C0267392|NCIT:C5517 A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis. UMLS:C0267392|NCIT:C5517 http://purl.obolibrary.org/obo/MONDO_0006152 colonic inflammatory polyp|inflammatory polyp of the colon|inflammatory polyp of colon MONDO:0006153 colon juvenile polyp biolink:Disease mondo UMLS:C1333090|EFO:1000185|NCIT:C5518 A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. UMLS:C1333090|NCIT:C5518 http://purl.obolibrary.org/obo/MONDO_0006153 retention polyp of the colon|juvenile polyp of the colon|juvenile polyp of colon|retention polyp of colon|colon retention polyp|colonic retention polyp|colonic juvenile polyp HP:0030791 Abnormal jaw morphology biolink:PhenotypicFeature mondo UMLS:C4280767 A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. http://purl.obolibrary.org/obo/HP_0030791 MONDO:0006150 colon Burkitt lymphoma biolink:Disease mondo UMLS:C1333083|EFO:1000182|NCIT:C27465 A rare Burkitt lymphoma that arises from the colon. UMLS:C1333083|NCIT:C27465 http://purl.obolibrary.org/obo/MONDO_0006150 colon Burkitt lymphoma|Burkitts lymphoma of colon|colon Burkitt's lymphoma|primary colon Burkitt's lymphoma|Burkitt lymphoma of colon|colon Burkitts lymphoma MONDO:0006151 colon dysplasia biolink:Disease mondo NCIT:C4847|UMLS:C1302363|SCTID:308870004|EFO:1000183 A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion. NCIT:C4847|UMLS:C1302363|SNOMEDCT:308870004 http://purl.obolibrary.org/obo/MONDO_0006151 dysplasia of the colon|dysplasia of colon|colonic dysplasia GO:0043436 oxoacid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/GO_0043436 keto acid metabolic process|oxo acid metabolic process|ketoacid metabolism|oxoacid metabolism|ketoacid metabolic process|oxo acid metabolism|keto acid metabolism MONDO:0018147 idiopathic macular telangiectasia type 3 biolink:Disease mondo ICD10:H35.5|UMLS:CN204545|Orphanet:353351 Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease. ORPHA:353351|UMLS:CN204545 http://purl.obolibrary.org/obo/MONDO_0018147 occlusive idiopathic juxtafoveolar retinal telangiectasis ordo_disease MONDO:0018146 idiopathic macular telangiectasia type 1 biolink:Disease mondo UMLS:CN204544|Orphanet:353344|ICD10:H35.5 Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates. ORPHA:353344|UMLS:CN204544 http://purl.obolibrary.org/obo/MONDO_0018146 visible and exudative idiopathic juxtafoveolar retinal telangiectasis|aneurysmal telangiectasia ordo_disease NCBITaxon:439490 unclassified ssRNA viruses organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_439490 unassigned ssRNA viruses MONDO:0018149 GM1 gangliosidosis biolink:Disease mondo ICD9:277.6|MESH:D016537|Orphanet:354|NCIT:C84739|ICD10:E75.19|GARD:0010891|SCTID:124465002|DOID:3322|UMLS:C0085131|ICD10:E75.1 GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. MESH:D016537|NCIT:C84739|SNOMEDCT:124465002|UMLS:C0085131|ORPHA:354|DOID:3322 http://purl.obolibrary.org/obo/MONDO_0018149 Landing syndrome|GM>1< gangliosidosis|GLB1 deficiency|deficiency of beta-galactosidase|Landing disease|GLB 1 deficiency|Beta-galactosidosis|Beta-galactosidase-1 deficiency|beta-galactosidase deficiency|gangliosidosis GM1|Beta-galactosidase deficiency|Beta galactosidase 1 deficiency ordo_disease MONDO:0018148 vasoproliferative tumor of retina biolink:Disease mondo ICD10:D31.2|UMLS:CN204546|Orphanet:353356 Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported. ORPHA:353356|UMLS:CN204546 http://purl.obolibrary.org/obo/MONDO_0018148 VPTR|vasoproliferative tumor of the ocular fundus|vasoproliferative tumor of ocular fundus|retinal vasoproliferative tumor|vasoproliferative tumor of the retina ordo_disease MONDO:0018143 pyruvate carboxylase deficiency, benign type biolink:Disease mondo Orphanet:353320|ICD10:E74.4|UMLS:CN204540 Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. UMLS:CN204540|ORPHA:353320 http://purl.obolibrary.org/obo/MONDO_0018143 pyruvate carboxylase deficiency type C ordo_clinical_subtype MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type biolink:Disease mondo ICD10:E74.4|UMLS:CN204539|Orphanet:353314 Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. UMLS:CN204539|ORPHA:353314 http://purl.obolibrary.org/obo/MONDO_0018142 pyruvate carboxylase deficiency type B ordo_clinical_subtype MONDO:0018145 congenital retinal arteriovenous communication biolink:Disease mondo ICD10:Q14.8|Orphanet:353334 ORPHA:353334 http://purl.obolibrary.org/obo/MONDO_0018145 congenital arteriovenous communication of the retina|congenital arteriovenous anastomoses of the retina|congenital retinal arteriovenous anastomoses ordo_morphological_anomaly MONDO:0018144 congenital myasthenic syndromes with glycosylation defect biolink:Disease mondo Orphanet:353327|ICD10:G70.2 ORPHA:353327 http://purl.obolibrary.org/obo/MONDO_0018144 ordo_etiological_subtype HP:0040126 Abnormal vitamin B12 level biolink:PhenotypicFeature mondo UMLS:C4021032 A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. http://purl.obolibrary.org/obo/HP_0040126 Abnormal serum cobalamin level MONDO:0018130 brain dopamine-serotonin vesicular transport disease biolink:Disease mondo Orphanet:352649|SCTID:717942003|UMLS:C4303546|UMLS:CN204508|ICD10:G25.8 Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. UMLS:CN204508|ORPHA:352649|SNOMEDCT:717942003|UMLS:C4303546 http://purl.obolibrary.org/obo/MONDO_0018130 ordo_disease MONDO:0021783 streptococcal sore throat biolink:Disease mondo EFO:1002024|UMLS:C0036689|SCTID:43878008|ICD9:034.0|NCIT:C116003 Inflammation of the throat due to Streptococcus pyogenes. NCIT:C116003|UMLS:C0036689|SNOMEDCT:43878008 http://purl.obolibrary.org/obo/MONDO_0021783 Strept throat|Streptococcal pharyngitis|Strep throat|streptococcal pharyngitis|Septic sore throat|Streptococcal angina|Streptococcal sore throat|strep throat|Streptococcal Pharyngitis MONDO:0006169 complex endometrial hyperplasia biolink:Disease mondo UMLS:C0349578|EFO:1000202|ICD9:621.32|SCTID:198322002|NCIT:C35423|COHD:198471 A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent. SNOMEDCT:198322002|NCIT:C35423|UMLS:C0349578 http://purl.obolibrary.org/obo/MONDO_0006169 MONDO:0006167 combined lung carcinoma biolink:Disease mondo UMLS:C1333123|EFO:1000200|NCIT:C7591 A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells. UMLS:C1333123|NCIT:C7591 http://purl.obolibrary.org/obo/MONDO_0006167 combined lung cancer|combined carcinoma of lung|combined carcinoma of the lung|combined lung carcinoma MONDO:0006168 obsolete common hematopoietic neoplasm biolink:Disease mondo EFO:1000201 NCIT:C7588 http://purl.obolibrary.org/obo/MONDO_0006168 MONDO:0006165 colorectal squamous cell carcinoma biolink:Disease mondo EFO:1000198|NCIT:C43588|UMLS:C1707442 A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. UMLS:C1707442|NCIT:C43588 http://purl.obolibrary.org/obo/MONDO_0006165 colorectum squamous cell carcinoma|colorectal squamous cell cancer|colorectal squamous cell carcinoma|colorectal (colon or rectal) squamous cell cancer MONDO:0006166 columnar cell hyperplasia of the breast biolink:Disease mondo UMLS:C1707446|NCIT:C54183|EFO:1000199 A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini. UMLS:C1707446|NCIT:C54183 http://purl.obolibrary.org/obo/MONDO_0006166 CCH|columnar cell hyperplasia of breast MONDO:0006163 colorectal serrated adenocarcinoma biolink:Disease mondo UMLS:C3272809|EFO:1000196|ICDO:8213/3|NCIT:C96485 A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture. UMLS:C3272809|NCIT:C96485 http://purl.obolibrary.org/obo/MONDO_0006163 colorectal serrated adenocarcinoma MONDO:0006164 colorectal sessile serrated adenoma/polyp biolink:Disease mondo EFO:1000197|UMLS:C2826783|NCIT:C83176 A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability. UMLS:C2826783|NCIT:C83176 http://purl.obolibrary.org/obo/MONDO_0006164 colorectal SSA/P|colorectal SSA|colorectal mixed hyperplastic adenomatous polyp|colorectal SSP|colorectal sessile serrated adenoma|colorectal mixed hyperplastic adenomatous polyp/serrated adenoma|colorectal sessile serrated polyp|colorectal sessile serrated adenoma/polyp MONDO:0006161 colorectal juvenile polyp biolink:Disease mondo NCIT:C5681|EFO:1000194 A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. NCIT:C5681 http://purl.obolibrary.org/obo/MONDO_0006161 large bowel juvenile polyp|large intestinal juvenile polyp|juvenile polyp of the large bowel|juvenile polyp of large bowel|colorectal retention polyp NCBITaxon:523103 Trichophyton mentagrophytes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_523103 Ctenomyces mentagrophytes|Arthroderma vanbreuseghemii|Spiralia mentagrophytes|Ectotrichophyton mentagrophytes|Microsporum mentagrophytes|Microides mentagrophytes MONDO:0006162 colorectal neuroendocrine tumor G1 biolink:Disease mondo NCIT:C96160|EFO:1000195|UMLS:C3272611 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. UMLS:C3272611|NCIT:C96160 http://purl.obolibrary.org/obo/MONDO_0006162 grade 1 neuroendocrine neoplasm of colorectum|colorectum carcinoid tumor|colorectal neuroendocrine tumor G1|large intestinal neuroendocrine tumor G1|colorectum neuroendocrine tumor, well differentiated, low grade|colorectal carcinoid tumor|colorectum carcinoid tumor|colorectal NET G1|colorectum neuroendocrine neoplasm G1|colorectum NET G1 MONDO:0006160 colorectal hamartoma biolink:Disease mondo NCIT:C96474|EFO:1000193|UMLS:C3272801 A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp. UMLS:C3272801|NCIT:C96474 http://purl.obolibrary.org/obo/MONDO_0006160 colorectal hamartoma|colorectum hamartoma (disease)|large intestinal hamartoma MONDO:0018139 scleredema biolink:Disease mondo ICD10:M34.8|SCTID:95323007|Orphanet:352763|GARD:0005975 SNOMEDCT:95323007|ORPHA:352763 http://purl.obolibrary.org/obo/MONDO_0018139 Buschke scleredema ordo_disease MONDO:0018136 minimal pigment oculocutaneous albinism type 1 biolink:Disease mondo SCTID:237919007|Orphanet:352734|ICD10:E70.3|ICD9:270.2|UMLS:CN204521 Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. UMLS:CN204521|ORPHA:352734|SNOMEDCT:237919007 http://purl.obolibrary.org/obo/MONDO_0018136 OCA1-MP|MP OCA type 1 ordo_clinical_subtype MONDO:0021777 acute rheumatic heart disease biolink:Disease mondo SCTID:312591002|UMLS:C0035440|NCIT:C34985|ICD9:391.9|ICD9:391.8 Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci). NCIT:C34985|SNOMEDCT:312591002|UMLS:C0035440 http://purl.obolibrary.org/obo/MONDO_0021777 active rheumatic fever with heart involvement|acute rheumatic carditis|acute rheumatic fever with heart involvement|acute rheumatic heart disease|acute rheumatic heart disease|Active rheumatic fever with heart involvement|acute Rheumatic Heart Disease MONDO:0018135 oculocutaneous albinism type 1 biolink:Disease mondo UMLS:CN119529|Orphanet:352731|SCTID:765146000|GARD:0004037|ICD10:E70.3 Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). SNOMEDCT:765146000|ORPHA:352731|UMLS:CN119529 http://purl.obolibrary.org/obo/MONDO_0018135 OCA1|ATN|oculocutaneous albinism, tyrosinase negative ordo_disease MONDO:0018138 ocular albinism with congenital sensorineural deafness biolink:Disease mondo Orphanet:352740|UMLS:C1863198|OMIM:103470|ICD10:E70.3|DOID:0090100 UMLS:C1863198|http://identifiers.org/omim/103470|ORPHA:352740|DOID:0090100 http://purl.obolibrary.org/obo/MONDO_0018138 albinism, ocular, with sensorineural deafness|digenic Waardenburg syndrome/ocular albinism|autosomal recessive Waardenburg syndrome type 2 with ocular albinism|Waardenburg syndrome type 2 with ocular albinism|WS2-OA|ocular albinism with sensorineural deafness|digenic Waardenburg syndrome/albinism|Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive ordo_disease MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 biolink:Disease mondo ICD10:E70.3|UMLS:C1847132|Orphanet:352737 Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas). UMLS:C1847132|ORPHA:352737 http://purl.obolibrary.org/obo/MONDO_0018137 TS OCA type 1|OCA1-TS ordo_clinical_subtype MONDO:0018132 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies biolink:Disease mondo Orphanet:352687|GARD:0012588 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy. ORPHA:352687 http://purl.obolibrary.org/obo/MONDO_0018132 MDDGA|lissencephaly type 2 with muscular and ocular involvement gard_rare|ordo_group_of_disorders MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion biolink:Disease mondo Orphanet:352665|ICD10:Q93.5|UMLS:CN204512 UMLS:CN204512|ORPHA:352665 http://purl.obolibrary.org/obo/MONDO_0018131 9q21 microdeletion syndrome|Del(9)(q21) ordo_etiological_subtype MONDO:0018134 disorder of melanin metabolism biolink:Disease mondo Orphanet:352728|UMLS:CN227269 UMLS:CN227269|ORPHA:352728 http://purl.obolibrary.org/obo/MONDO_0018134 ordo_group_of_disorders MONDO:0018133 attenuated Chédiak-Higashi syndrome biolink:Disease mondo UMLS:CN204519|Orphanet:352723|UMLS:C4304022|ICD10:E70.3|SCTID:720520009 Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. UMLS:CN204519|ORPHA:352723|SNOMEDCT:720520009|UMLS:C4304022 http://purl.obolibrary.org/obo/MONDO_0018133 attenuated Chediak-Higashi syndrome|atypical Chediak-Higashi syndrome|atypical Chédiak-Higashi syndrome ordo_disease MONDO:0008839 ataxia-microcephaly-cataract syndrome biolink:Disease mondo MESH:C563086|UMLS:C0796056|OMIM:208870 MESH:C563086|http://identifiers.org/omim/208870|UMLS:C0796056 http://purl.obolibrary.org/obo/MONDO_0008839 AMC syndrome|ataxia-microcephaly-cataract syndrome UBERON:0015031 pedal digit 1 phalanx endochondral element biolink:AnatomicalEntity mondo A pedal digit 1 phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015031 pedal digit I phalanx endochondral element|pedal digit 1 phalanx element|pedal digit 1 phalanx skeletal element MONDO:0008838 ataxia - deafness - intellectual disability syndrome biolink:Disease mondo Orphanet:1188|SCTID:720517001|GARD:0004644|MESH:C535295|OMIM:208850|ICD10:G11.1 This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. http://identifiers.org/omim/208850|SNOMEDCT:720517001|ORPHA:1188|MESH:C535295 http://purl.obolibrary.org/obo/MONDO_0008838 ataxia, hearing loss, and mental retardation|Reardon-Baraitser syndrome|ataxia-hearing loss-intellectual disability syndrome|Reardon Wilson Cavanagh syndrome|ataxia, hearing loss, and intellectual disability|familial ataxia, deafness, and developmental delay|ataxia-deafness-retardation syndrome|Adr syndrome ordo_malformation_syndrome MONDO:0008837 ataxia, deafness, and cardiomyopathy biolink:Disease mondo OMIM:208750|UMLS:C1859645|MESH:C565932 http://identifiers.org/omim/208750|UMLS:C1859645|MESH:C565932 http://purl.obolibrary.org/obo/MONDO_0008837 ataxia, deafness, and cardiomyopathy MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia biolink:Disease mondo MESH:C565933|UMLS:C1859646|OMIM:208700 http://identifiers.org/omim/208700|UMLS:C1859646|MESH:C565933 http://purl.obolibrary.org/obo/MONDO_0008836 ataxia with myoclonic epilepsy and presenile dementia MONDO:0008835 asthma, short stature, and elevated IgA biolink:Disease mondo UMLS:C1859647|MESH:C565934|OMIM:208600 http://identifiers.org/omim/208600|UMLS:C1859647|MESH:C565934 http://purl.obolibrary.org/obo/MONDO_0008835 asthma, short stature, and elevated IgA MONDO:0008834 asthma, nasal polyps, and aspirin intolerance biolink:Disease mondo OMIM:208550|UMLS:C1859648 http://identifiers.org/omim/208550|UMLS:C1859648 http://purl.obolibrary.org/obo/MONDO_0008834 asthma, nasal polyps, and aspirin intolerance|asthma and nasal polyps|asthma, aspirin-induced, susceptibility to|Asa triad UBERON:0015030 pedal digit phalanx endochondral element biolink:AnatomicalEntity mondo A pedal digit phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015030 pedal digit phalanx skeletal element|pedal digit phalanx element MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 biolink:Disease mondo OMIM:208540|UMLS:C3715199 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene. UMLS:C3715199|http://identifiers.org/omim/208540 http://purl.obolibrary.org/obo/MONDO_0008833 Rhpd|RHPD1|renal-hepatic-pancreatic dysplasia type 1|NPHP3 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia 1; RHPD1|renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3|renal-hepatic-pancreatic dysplasia 1 MONDO:0008832 right atrial isomerism (disease) biolink:Disease mondo DOID:0060856|OMIM:208530|GARD:0006795|MedDRA:10068335|HP:0011536|ICD10:Q20.6|Orphanet:97548 A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. DOID:0060856|MEDDRA:10068335|ORPHA:97548|http://identifiers.org/omim/208530 http://purl.obolibrary.org/obo/MONDO_0008832 asplenia with cardiovascular anomalies|Polyasplenia|right atrial isomerism|right isomerism|Ivemark syndrome|heterotaxy, Visceroatrial, autosomal recessive|asplenia syndrome|bilateral right-sidedness sequence|Vah, autosomal recessive|right atrial isomerism; RAI|RAI|polysplenia syndrome|splenic agenesis syndrome ordo_malformation_syndrome MONDO:0008831 asphyxiating thoracic dystrophy 1 biolink:Disease mondo UMLS:CN119532|OMIM:208500|DOID:0110085|ICD10:Q77.2 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. UMLS:CN119532|DOID:0110085|http://identifiers.org/omim/208500 http://purl.obolibrary.org/obo/MONDO_0008831 short-rib thoracic dysplasia 1 with or without polydactyly; SRTD1|asphyxiating thoracic dystrophy type 1|ATD1|asphyxiating thoracic dystrophy 1|short-rib thoracic dysplasia 1 with or without polydactyly|thoracic-pelvic-phalangeal dystrophy|SRTD1|Jeune syndrome MONDO:0008830 aspartylglucosaminuria biolink:Disease mondo UMLS:C0268225|MESH:D054880|Orphanet:93|NCIT:C61273|MedDRA:10068220|ICD10:E77.1|SCTID:54954004|OMIM:208400|DOID:0050461|GARD:0005854 Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). ORPHA:93|UMLS:C2931840|UMLS:C0268225|MESH:C538402|DOID:0050461|NCIT:C61273|MESH:D054880|SNOMEDCT:54954004|http://identifiers.org/omim/208400|MEDDRA:10068220 http://purl.obolibrary.org/obo/MONDO_0008830 Aga deficiency|glycosylasparaginase deficiency|Glycoasparaginase|AGU|aspartylglucosaminuria|aspartylglucosaminuria; AGU|aspartylglucosaminidase deficiency|Aspartylglucosamidase (AGA) deficiency|aspartylglycosaminuria ordo_disease UBERON:0015036 pedal digit metatarsal endochondral element biolink:AnatomicalEntity mondo A pedal digit metatarsal bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015036 pedal digit metatarsal element|pedal digit metatarsal skeletal element UBERON:0015035 pedal digit 5 phalanx endochondral element biolink:AnatomicalEntity mondo A pedal digit 5 phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015035 pedal digit V phalanx endochondral element|pedal digit 5 phalanx skeletal element|pedal digit 5 phalanx element UBERON:0015037 pedal digit 1 metatarsal endochondral element biolink:AnatomicalEntity mondo A pedal digit 1 metatarsal bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015037 pedal digit 1 metatarsal skeletal element|pedal digit 1 metatarsal element|pedal digit I metatarsal endochondral element UBERON:0003054 roof plate biolink:AnatomicalEntity mondo A single row of glia at the dorsal midline of the developing neural tube along the entire anterior-posterior axis. This region provides inductive signals for the specification of neuronal cell types and of the specification of neural crest cells. The cells comprising the roof plate are the precursors to radial glial cells. http://purl.obolibrary.org/obo/UBERON_0003054 roof plate neural tube region|roofplate|roof plate neural tube|alar plate|future brain roof plate UBERON:0003055 periderm biolink:AnatomicalEntity mondo A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. http://purl.obolibrary.org/obo/UBERON_0003055 EVL|epidermis epithelial layer|periderm|epidermis outer layer|skin periderm|epitrichium MONDO:0021808 acute cholinergic dysautonomia biolink:Disease mondo UMLS:C2930973|GARD:0009394|MESH:C535672 A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset. UMLS:C2930973|MESH:C535672 http://purl.obolibrary.org/obo/MONDO_0021808 ACD gard_rare MONDO:0021809 primary dysautonomia biolink:Disease mondo MESH:D054969 Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate. MESH:D054969 http://purl.obolibrary.org/obo/MONDO_0021809 Dysautonomias|primary dysautonomia|dysautonomia, primary|dysautonomia|Dysautonomias, primary UBERON:0003052 midbrain-hindbrain boundary biolink:AnatomicalEntity mondo The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. http://purl.obolibrary.org/obo/UBERON_0003052 isthmus/MHB|mid-hindbrain boundary|isthmic organizer territory|midbrain hindbrain boundary|mid-hindbrain junction|isthmo-cerebellar region|isthmus|MHB UBERON:0003050 olfactory placode biolink:AnatomicalEntity mondo A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. http://purl.obolibrary.org/obo/UBERON_0003050 placoda olfactoria|olfactory placodes|placoda nasalis|nasal I placode|nasal placode HP:0003107 Abnormal circulating cholesterol concentration biolink:PhenotypicFeature mondo UMLS:C4025656 Any deviation from the normal concentration of cholesterol in the blood circulation. http://purl.obolibrary.org/obo/HP_0003107 Abnormal cholesterol homeostasis|Abnormality of cholesterol metabolism UBERON:0003051 ear vesicle biolink:AnatomicalEntity mondo An epithelial sac of invaginated ectoderm formed from the otic placode that gives rise to the structures of the inner ear[MP] http://purl.obolibrary.org/obo/UBERON_0003051 otic vesicle|acoustic vesicle|OV|auditory vesicle|otocyst UBERON:0003059 presomitic mesoderm biolink:AnatomicalEntity mondo Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. http://purl.obolibrary.org/obo/UBERON_0003059 unsegmented mesenchyme|somitomeric mesoderm|PSM|somitogenic mesoderm|segmental plate|presumptive somite mesoderm|unsegmented paraxial mesoderm MONDO:0021804 silicotuberculosis biolink:Disease mondo UMLS:C0037118|SCTID:233763009|MESH:D012830|ICD9:502 Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis. UMLS:C0037118|SNOMEDCT:233763009|MESH:D012830 http://purl.obolibrary.org/obo/MONDO_0021804 Silicotuberculoses|Silicotuberculosis|silicotuberculosis UBERON:0003056 pre-chordal neural plate biolink:AnatomicalEntity mondo The portion of neural plate anterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/UBERON_0003056 anterior neural plate MONDO:0021805 acromesomelic dysplasia, Campailla Martinelli type biolink:Disease mondo GARD:0000505|UMLS:C2930969|MESH:C535659 UMLS:C2930969|MESH:C535659 http://purl.obolibrary.org/obo/MONDO_0021805 mesomelic dwarfism Campailla-Martinelli type|acromesomelic dysplasia Campailla Martinelli type gard_rare UBERON:0003057 chordal neural plate biolink:AnatomicalEntity mondo The portion of neural plate posterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/UBERON_0003057 posterior neural plate UBERON:0015021 forelimb endochondral element biolink:AnatomicalEntity mondo A forelimb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015021 forelimb skeletal element MONDO:0008849 atrophoderma vermiculata biolink:Disease mondo GARD:0009744|OMIM:209700|ICD9:701.8|Orphanet:79100|ICD10:L66.4|SCTID:2736005 SNOMEDCT:2736005|ORPHA:79100|http://identifiers.org/omim/209700 http://purl.obolibrary.org/obo/MONDO_0008849 folliculitis ulerythematosa reticulata|atrophoderma vermiculata|folliculitis ulerythematosa|Atrophodermia vermiculata|honeycomb atrophy|atrophoderma vermiculatum|Atrophodermia reticulata symmetrica faciei|ava|atrophoderma vermiculata; ava|Atrophodermia reticulata|folliculitis ulerythematosa reticulate gard_rare|ordo_disease UBERON:0015023 phalanx endochondral element biolink:AnatomicalEntity mondo A phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015023 phalanx element|phalanx skeletal element MONDO:0008848 atrioventricular dissociation (disease) biolink:Disease mondo HP:0011709|MESH:D006327|SCTID:50799005|OMIM:209600|ICD9:426.89 Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. SNOMEDCT:50799005|MESH:D006327|http://identifiers.org/omim/209600 http://purl.obolibrary.org/obo/MONDO_0008848 atrioventricular dissociation|A-V dissociation|atrioventricular dissociation UBERON:0015022 hindlimb endochondral element biolink:AnatomicalEntity mondo A hindlimb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb bone skeletal element MONDO:0008847 atrichia with papular lesions biolink:Disease mondo UMLS:C1859592|MESH:C565924|SCTID:715963002|OMIM:209500|Orphanet:86819|ICD10:L65.8|DOID:0060689 Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities. DOID:0060689|UMLS:C1859592|ORPHA:86819|MESH:C565924|http://identifiers.org/omim/209500|SNOMEDCT:715963002 http://purl.obolibrary.org/obo/MONDO_0008847 atrichia with papular lesions; APL|atrichia with papular lesions|papular atrichia|APL ordo_disease MONDO:0008846 atransferrinemia biolink:Disease mondo Orphanet:1195|OMIM:209300|DOID:0050649|GARD:0009595|UMLS:C0521802|MESH:C538259|NCIT:C125693|ICD10:E88.0|SCTID:111571009 Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. SNOMEDCT:111571009|NCIT:C125693|UMLS:C0521802|UMLS:C1859593|MESH:C538259|ORPHA:1195|DOID:0050649|http://identifiers.org/omim/209300 http://purl.obolibrary.org/obo/MONDO_0008846 transferrin serum level quantitative trait locus 1|congenital atransferrinemia|congenital hypotransferrinemia|familial hypotransferrinemia|hereditary atransferrinemia|atransferrinemia|hypotransferrinemia, familial ordo_disease|gard_rare MONDO:0008845 atonic-astatic syndrome of Foerster biolink:Disease mondo MESH:C565926|OMIM:209100|UMLS:C1859594 UMLS:C1859594|http://identifiers.org/omim/209100|MESH:C565926 http://purl.obolibrary.org/obo/MONDO_0008845 atonic-astatic syndrome of Foerster MONDO:0008844 Athrombia, essential biolink:Disease mondo OMIM:209050|UMLS:C1859595|MESH:C565927 UMLS:C1859595|http://identifiers.org/omim/209050|MESH:C565927 http://purl.obolibrary.org/obo/MONDO_0008844 Athrombia, essential HGNC:1228 SERPING1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1228 MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome biolink:Disease mondo OMIM:209010|MESH:C565928|SCTID:720519003|Orphanet:1192|GARD:0002279 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. ORPHA:1192|http://identifiers.org/omim/209010|MESH:C565928|SNOMEDCT:720519003 http://purl.obolibrary.org/obo/MONDO_0008843 Feigenbaum Bergeron Richardson syndrome|Feigenbaum-Bergeron-Richardson syndrome|atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease|premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder ordo_malformation_syndrome UBERON:0015029 manual digit 5 phalanx endochondral element biolink:AnatomicalEntity mondo A manual digit 5 phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015029 manual digit 5 phalanx element|manual digit V phalanx endochondral element|manual digit 5 phalanx skeletal element MONDO:0008842 ataxia with oculomotor apraxia type 1 biolink:Disease mondo MESH:C538013|DOID:0050754|ICD10:G11.3|GARD:0009283|UMLS:C1859598|Orphanet:1168|OMIM:208920 Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. UMLS:C1859598|MESH:C538013|ORPHA:1168|DOID:0050754|http://identifiers.org/omim/208920 http://purl.obolibrary.org/obo/MONDO_0008842 early-onset ataxia with oculomotor apraxia and hypoalbuminemia|ataxia, adult-onset, with oculomotor apraxia|ataxia-oculomotor apraxia 1|ataxia-telangiectasia-like syndrome|ataxia-oculomotor apraxia type 1|EOCA-HA|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; EAOH|cerebellar ataxia, early-onset, with hypoalbuminemia|early-onset cerebellar ataxia with hypoalbuminemia|AOA1|EAOH|APTX oculomotor apraxia or related oculomotor disease|ataxia-oculomotor apraxia syndrome|oculomotor apraxia or related oculomotor disease caused by mutation in APTX ordo_disease MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death biolink:Disease mondo UMLS:C1859615|MESH:C565930|OMIM:208910 UMLS:C1859615|MESH:C565930|http://identifiers.org/omim/208910 http://purl.obolibrary.org/obo/MONDO_0008841 ataxia-telangiectasia with generalized skin pigmentation and early death MONDO:0008840 ataxia telangiectasia biolink:Disease mondo ICD10:G11.3|MESH:D001260|Orphanet:100|DOID:12704|UMLS:C0004135|NCIT:C2887|MedDRA:10003594|ICD9:334.8|GARD:0005862|SCTID:68504005|OMIM:208900 Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer. SNOMEDCT:68504005|MESH:D001260|ORPHA:100|NCIT:C2887|MEDDRA:10003594|DOID:12704|UMLS:C0004135|http://identifiers.org/omim/208900 http://purl.obolibrary.org/obo/MONDO_0008840 ataxia - telangiectasia|boder-Sedgwick syndrome|Louis-Bar syndrome|ataxia - telangiectasia variant|AT, complementation group E|ataxia telangiectasia syndrome|AT, complementation group D|immunodeficiency with ataxia telangiectasia|AT, complementation group C|ataxia-telangiectasia; AT|AT, complementation group A|AT|AT1|Louis Bar syndrome|cerebello-oculocutaneous telangiectasia|ataxia telangiectasia gard_rare|ordo_disease UBERON:0015025 manual digit 1 phalanx endochondral element biolink:AnatomicalEntity mondo A manual digit 1 phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015025 manual digit I phalanx endochondral element|manual digit 1 phalanx element|manual digit 1 phalanx skeletal element UBERON:0015024 manual digit phalanx endochondral element biolink:AnatomicalEntity mondo A manual digit phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015024 manual digit phalanx element|manual digit phalanx skeletal element MONDO:0033809 isolated blepharochalasis biolink:Disease mondo Orphanet:519390 ORPHA:519390 http://purl.obolibrary.org/obo/MONDO_0033809 ordo_disease UBERON:0003041 trigeminal nerve fibers biolink:AnatomicalEntity mondo A nerve fiber that is part of a trigeminal nerve. http://purl.obolibrary.org/obo/UBERON_0003041 central part of trigeminal nerve|trigeminal nerve tract|fibrae nervi trigemini|trigeminal nerve fibers HP:0003112 Abnormal circulating amino acid concentration biolink:PhenotypicFeature mondo UMLS:C4025653 The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. http://purl.obolibrary.org/obo/HP_0003112 Abnormality of serum amino acid levels|Abnormality of serum amino acid level HP:0003119 Abnormal circulating lipid concentration biolink:PhenotypicFeature mondo UMLS:C0242339|MSH:D050171|SNOMEDCT_US:370992007|UMLS:C4025650 Any deviation from the normal concentration of a lipid in the blood circulation. http://purl.obolibrary.org/obo/HP_0003119 Dyslipidemia HP:0003117 Abnormal circulating hormone level biolink:PhenotypicFeature mondo UMLS:C4025652 An abnormal concentration of a hormone in the blood. http://purl.obolibrary.org/obo/HP_0003117 Abnormality of circulating hormone level MONDO:0033810 isolated iridoschisis biolink:Disease mondo Orphanet:519392 ORPHA:519392 http://purl.obolibrary.org/obo/MONDO_0033810 ordo_disease HP:0003111 Abnormal blood ion concentration biolink:PhenotypicFeature mondo UMLS:C4025654|SNOMEDCT_US:237840007|UMLS:C1704431 Abnormality of the homeostasis (concentration) of a monoatomic ion. http://purl.obolibrary.org/obo/HP_0003111 Abnormality of ion homeostasis|Electrolyte disorders HGNC:1232 EGLN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1232 HP:0003110 Abnormality of urine homeostasis biolink:PhenotypicFeature mondo UMLS:C4025655 An abnormality of the composition of urine or the levels of its components. http://purl.obolibrary.org/obo/HP_0003110 Urine issues|Pee issues MONDO:0033818 Terrien marginal degeneration biolink:Disease mondo Orphanet:519410 A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism ORPHA:519410 http://purl.obolibrary.org/obo/MONDO_0033818 Terrien's marginal degeneration ordo_disease MONDO:0008818 arterial tortuosity syndrome biolink:Disease mondo OMIM:208050|GARD:0000774|UMLS:C1859726|SCTID:458432002|MESH:C565942|ICD10:Q87.82|ICD10:I77.1|Orphanet:3342|DOID:0050645 Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. DOID:0050645|SNOMEDCT:458432002|http://identifiers.org/omim/208050|MESH:C565942|ORPHA:3342|UMLS:C1859726 http://purl.obolibrary.org/obo/MONDO_0008818 arterial tortuosity syndrome; ATS|arterial tortuosity syndrome|ATS|arterial tortuosity ordo_malformation_syndrome UBERON:0015010 sacral vertebra endochondral element biolink:AnatomicalEntity mondo A vertebra endochondral element that is part of the sacral region of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0015010 sacral vertebra skeletal element|sacral vertebra element MONDO:0008817 arterial calcification, generalized, of infancy, 1 biolink:Disease mondo NCIT:C128805|OMIM:208000 An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications. NCIT:C128805|http://identifiers.org/omim/208000 http://purl.obolibrary.org/obo/MONDO_0008817 idiopathic infantile arterial calcification|Gaci|arterial calcification of infancy caused by mutation in ENPP1|arterial calcification, generalized, of infancy, type 1|arterial calcification, idiopathic infantile|generalized arterial calcification of infancy 1|arterial calcification, generalized, of infancy, 1|arteriopathy, occlusive infantile|arterial calcification, generalized, of infancy, 1; GACI1|coronary sclerosis, medial, of infancy|ENPP1 arterial calcification of infancy|GACI1 MONDO:0008816 Chiari malformation type II biolink:Disease mondo GARD:0009232|Orphanet:1136|MedDRA:10056945|SCTID:373587001|ICD10:Q07.0|OMIM:207950 Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache. UMLS:C0750930|MEDDRA:10056945|http://identifiers.org/omim/207950|ORPHA:1136|SNOMEDCT:373587001 http://purl.obolibrary.org/obo/MONDO_0008816 Arnold-Chiari malformation|Arnold Chiari malformation type II|Arnold-Chiari malformation type 2|Arnold-Chiari malformation type II|Chiari malformation type II|Chiari malformation type 2|Cm2|Chiari type II malformation ordo_morphological_anomaly MONDO:0033816 thygeson superficial punctate keratopathy biolink:Disease mondo Orphanet:519406 An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease. ORPHA:519406 http://purl.obolibrary.org/obo/MONDO_0033816 ordo_disease MONDO:0008815 argininosuccinic aciduria biolink:Disease mondo UMLS:C0268547|GARD:0005843|NCIT:C84569|DOID:14755|ICD10:E72.2|Orphanet:23|OMIM:207900|SCTID:41013004|MESH:D056807|MedDRA:10058299 Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. SNOMEDCT:41013004|DOID:14755|MEDDRA:10058299|ORPHA:23|NCIT:C84569|http://identifiers.org/omim/207900|UMLS:C0268547|MESH:D056807 http://purl.obolibrary.org/obo/MONDO_0008815 argininosuccinic acidemia|ASL deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|argininosuccinic aciduria|argininosuccinase deficiency|argininosuccinicaciduria|argininosuccinate acidemia|ASA deficiency|arginino succinase deficiency|argininosuccinic acid lyase deficiency|arginosuccinase deficiency|urea cycle disorder, arginino succinase type|deficiency of argininosuccinate lyase|inborn error of urea synthesis, arginino succinic type ordo_disease|gard_rare UBERON:0017672 abdominal viscera biolink:AnatomicalEntity mondo A viscus that is part of a abdomen. http://purl.obolibrary.org/obo/UBERON_0017672 set of abdominal viscera|abdominal viscera set|abdominal viscera MONDO:0008814 hyperargininemia biolink:Disease mondo UMLS:C0268548|Orphanet:90|NCIT:C84568|MedDRA:10062695|DOID:9278|GARD:0005840|ICD10:E72.21|SCTID:23501004|OMIM:207800|ICD10:E72.2|MESH:D020162 Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. MEDDRA:10062695|DOID:9278|ORPHA:90|NCIT:C84568|MESH:D020162|SNOMEDCT:23501004|http://identifiers.org/omim/207800|UMLS:C0268548 http://purl.obolibrary.org/obo/MONDO_0008814 hyperargininemia|arginase deficiency|deficiency of canavanase|Arg1 deficiency|argininemia ordo_disease MONDO:0008813 arachnoid cyst biolink:Disease mondo SCTID:33595009|MESH:D016080|UMLS:C0078981|ICD10:G93.0|MedDRA:10049005|GARD:0000017|Orphanet:2356 Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) UMLS:C0078981|MESH:D016080|MEDDRA:10049005|ORPHA:2356|SNOMEDCT:33595009 http://purl.obolibrary.org/obo/MONDO_0008813 arachnoid cysts ordo_morphological_anomaly|gard_rare MONDO:0008812 AREDYLD syndrome biolink:Disease mondo OMIM:207780|GARD:0008509|ICD9:753.3|UMLS:C0342280|SCTID:237610008|MESH:C537427|Orphanet:1133|ICD10:Q87.8 AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. http://identifiers.org/omim/207780|SNOMEDCT:237610008|ORPHA:1133|MESH:C537427|UMLS:C0342280 http://purl.obolibrary.org/obo/MONDO_0008812 acral renal ectodermal dysplasia lipoatrophic diabetes|acrorenal defect-ectodermal dysplasia-diabetes syndrome|AREDYLD|acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes ordo_malformation_syndrome MONDO:0008811 XK aprosencephaly biolink:Disease mondo ICD10:Q04.3|MESH:C536767|Orphanet:3469|GARD:0000424|UMLS:C0795952|SCTID:277921008|OMIM:207770 XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. UMLS:C0431348|http://identifiers.org/omim/207770|ORPHA:3469|UMLS:C0795952|MESH:C536767|SNOMEDCT:277921008 http://purl.obolibrary.org/obo/MONDO_0008811 Xk syndrome|atelencephaly|aprosencephaly syndrome|Garcia-Lurie syndrome|XK-aprosencephaly|XK-aprosencephaly syndrome|XK aprosencephaly syndrome|aprosencephaly-atelencephaly syndrome gard_rare|ordo_malformation_syndrome MONDO:0008810 familial apolipoprotein C-II deficiency biolink:Disease mondo UMLS:C0268199|SCTID:33513003|UMLS:C1720779|OMIM:207750|Orphanet:309020|ICD10:E78.3 ORPHA:309020|UMLS:C1720779|http://identifiers.org/omim/207750|UMLS:C0268199|SNOMEDCT:33513003 http://purl.obolibrary.org/obo/MONDO_0008810 hyperlipoproteinemia, type IB|Apoc2 deficiency|C-II Anapolipoproteinemia|hyperlipoproteinemia, type 1B|apolipoprotein C-II deficiency|familial apoC-II deficiency ordo_clinical_subtype UBERON:0015019 rib endochondral element biolink:AnatomicalEntity mondo A rib bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015019 rib skeletal element|rib element UBERON:0015014 calcaneum endochondral element biolink:AnatomicalEntity mondo A calcaneum bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015014 calcaneum element|calcaneum skeletal element UBERON:0015013 fibula endochondral element biolink:AnatomicalEntity mondo The major postaxial endochondral element in the posterior zeugopod[Phenoscape]. http://purl.obolibrary.org/obo/UBERON_0015013 fibula element|fibula skeletal element UBERON:0005695 manual digit 5 mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing manual digit 5. http://purl.obolibrary.org/obo/UBERON_0005695 fore limb digit 5 mesenchyme|manual digit V mesenchyme|hand digit 5 mesenchyme UBERON:0005691 4th arch mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a pharyngeal arch 4. http://purl.obolibrary.org/obo/UBERON_0005691 4th branchial arch mesenchyme|4th pharyngeal arch mesenchyme|pharyngeal arch 4 mesenchyme UBERON:0005690 3rd arch mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a pharyngeal arch 3. http://purl.obolibrary.org/obo/UBERON_0005690 3rd pharyngeal arch mesenchyme|3rd branchial arch mesenchyme|pharyngeal arch 3 mesenchyme MONDO:0033821 fungal keratitis biolink:Disease mondo Orphanet:519930 ORPHA:519930 http://purl.obolibrary.org/obo/MONDO_0033821 ordo_disease HGNC:1247 C1S biolink:OntologyClass mondo http://identifiers.org/hgnc/1247 HGNC:1248 C2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1248 HGNC:1245 C1QC biolink:OntologyClass mondo http://identifiers.org/hgnc/1245 UBERON:0003038 thoracic spinal cord biolink:AnatomicalEntity mondo The thoracic nerves are the spinal nerves emerging from the thoracic vertebrae. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0003038 thoracic segments of spinal cord [1-12]|pars thoracica medullae spinalis|thoracic region of spinal cord|thoracic spinal cord|thoracic segment of spinal cord|segmenta thoracica medullae spinalis [1-12] HGNC:1246 C1R biolink:OntologyClass mondo http://identifiers.org/hgnc/1246 UBERON:0005699 pedal digit 5 mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing pedal digit 5. http://purl.obolibrary.org/obo/UBERON_0005699 pedal digit V mesenchyme|hind limb digit 5 mesenchyme|foot digit 5 mesenchyme UBERON:0003037 septum biolink:AnatomicalEntity mondo A wall, dividing a cavity or structure into smaller ones[WP]. http://purl.obolibrary.org/obo/UBERON_0003037 septa MONDO:0008809 polyneuropathy-hand defect syndrome biolink:Disease mondo MESH:C535624|GARD:0002589|UMLS:C2930955|Orphanet:2926|OMIM:207740|ICD10:Q87.8 Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. ORPHA:2926|MESH:C535624|http://identifiers.org/omim/207740|UMLS:C2930955 http://purl.obolibrary.org/obo/MONDO_0008809 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy|polyneuropathy, hand defect|digital extensor muscle aplasia-polyneuropathy|Hamanishi-Ueba-Tsuji syndrome|Hamanishi Ueba Tsuji syndrome|congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy ordo_malformation_syndrome|gard_rare HGNC:1241 C1QA biolink:OntologyClass mondo http://identifiers.org/hgnc/1241 HGNC:1242 C1QB biolink:OntologyClass mondo http://identifiers.org/hgnc/1242 MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome biolink:Disease mondo Orphanet:1116|GARD:0000753|SCTID:720500008|MESH:C537788|OMIM:207731 Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. MESH:C537788|SNOMEDCT:720500008|http://identifiers.org/omim/207731|UMLS:C1859753|ORPHA:1116 http://purl.obolibrary.org/obo/MONDO_0008808 ACC with intestinal lymphangiectasia|Bronspiegel-Zelnick syndrome|autosomal recessive aplasia cutis|aplasia cutis congenita with intestinal lymphangiectasia|aplasia cutis congenita intestinal lymphangiectasia ordo_disease MONDO:0008829 chylous ascites biolink:Disease mondo NCIT:C34482|UMLS:C0008732|ICD10:I89.8|MedDRA:10003446|Orphanet:1160|SCTID:52985009|MESH:D002915|GARD:0001359|OMIM:208300|ICD9:457.8 Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain. UMLS:C0008732|http://identifiers.org/omim/208300|MEDDRA:10003446|SNOMEDCT:52985009|ORPHA:1160|MESH:D002915|NCIT:C34482 http://purl.obolibrary.org/obo/MONDO_0008829 congenital chylous ascites|ascites, chylous gard_rare|ordo_disease MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome biolink:Disease mondo OMIM:208250|EFO:0009028|MESH:C537560|GARD:0000306|DOID:0090127|Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. DOID:0090127|http://identifiers.org/omim/208250|UMLS:C1859690|ORPHA:2848|MESH:C537560 http://purl.obolibrary.org/obo/MONDO_0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome; CACP|hypertrophic synovitis, congenital familial|fibrosing serositis, familial|PAC syndrome|camptodactyly-arthropathy-coxa-vara-pericarditis syndrome|camptodactyly-arthropathy-pericarditis syndrome|familial fibrosing serositis|arthropathy-camptodactyly syndrome|CAP syndrome|pericarditis-arthropathy-camptodactyly syndrome|CACP|congenital familial hypertrophic synovitis|Jacobs syndrome|camptodactyly arthropathy coxa vara pericarditis syndrome|arthropathy camptodactyly syndrome|pericarditis arthropathy camptodactyly syndrome|Cap syndrome|CACP|camptodactyly-arthropathy-coxa vara-pericarditis syndrome|camptodactyly arthropathy pericarditis syndrome|CACP syndrome ordo_disease|gard_rare MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood biolink:Disease mondo GARD:0009184|SCTID:254065005|ICD9:756.9|DOID:0090004|OMIM:208230|Orphanet:1159|ICD10:Q77.7|MESH:C535387 Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED. MESH:C535387|http://identifiers.org/omim/208230|SNOMEDCT:254065005|ORPHA:1159|DOID:0090004 http://purl.obolibrary.org/obo/MONDO_0008827 spondyloepiphyseal dysplasia tarda - progressive arthropathy|progressive pseudorheumatoid chondrodysplasia|spondyloepiphyseal dysplasia tarda with progressive arthropathy|PPD|arthropathy, progressive pseudorheumatoid, of childhood|progressive pseudorheumatoid dysplasia|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|SEDT-PA|arthropathy, progressive pseudorheumatoid, of childhood; PPAC|PPAC|progressive pseudorheumatoid arthropathy of childhood ordo_disease UBERON:0015001 radius endochondral element biolink:AnatomicalEntity mondo The major preaxial endrochondral skeletal element in the anterior zeugopod. http://purl.obolibrary.org/obo/UBERON_0015001 radius skeletal element|radius element MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form biolink:Disease mondo MESH:C535883|SCTID:726620005|UMLS:C1859710|Orphanet:1485|GARD:0003053|OMIM:208158 Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. http://identifiers.org/omim/208158|MESH:C535883|SNOMEDCT:726620005|UMLS:C1859710|ORPHA:1485 http://purl.obolibrary.org/obo/MONDO_0008826 Johnston Aarons Schelley syndrome|Johnston-Aarons-Schelley syndrome|arthrogryposis with hyperkeratosis|Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns ordo_malformation_syndrome MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome biolink:Disease mondo UMLS:C1859711|Orphanet:1150|GARD:0000792|SCTID:720514008|ICD10:Q87.8|MESH:C538401|OMIM:208155 Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. http://identifiers.org/omim/208155|UMLS:C1859711|MESH:C538401|ORPHA:1150|SNOMEDCT:720514008 http://purl.obolibrary.org/obo/MONDO_0008825 arthrogryposis multiplex congenita whistling face|Illum syndrome|lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system|arthrogryposis, whistling face, and developmental retardation|arthrogryposis, whistling face, and developintellectual disability|ILLUM syndrome ordo_malformation_syndrome MONDO:0008824 fetal akinesia deformation sequence biolink:Disease mondo GARD:0009634|NCIT:C129071|SCTID:401138005|MESH:C536647|OMIMPS:208150|ICD10:Q87.8|ICD9:754.89 Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes. SNOMEDCT:401138005|NCIT:C129071|MESH:C536647 http://purl.obolibrary.org/obo/MONDO_0008824 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|FADS|fetal akinesia sequence|fetal akinesia deformation sequence|fetal akinesia deformation sequence; FADS gard_rare|ordo_malformation_syndrome MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type biolink:Disease mondo MESH:C536614|Orphanet:1143|GARD:0000790|SCTID:715316005|UMLS:C1859721|OMIM:208100|DOID:0090124|ICD10:Q74.3 Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. UMLS:C1859721|ORPHA:1143|MESH:C536614|SNOMEDCT:715316005|DOID:0090124|http://identifiers.org/omim/208100 http://purl.obolibrary.org/obo/MONDO_0008823 AMC neurogenic type|AMCN|arthrogryposis multiplex congenita neurogenic type|neurogenic arthrogryposis multiplex congenita|neurogenic type of AMC|arthrogryposis multiplex congenita, neurogenic type; AMCN|AMC, neurogenic type|arthrogryposis multiplex congenita, neurogenic type ordo_disease MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 biolink:Disease mondo OMIM:208085 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene. http://identifiers.org/omim/208085 http://purl.obolibrary.org/obo/MONDO_0008822 arthrogryposis, renal dysfunction, and cholestasis type 1|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B|VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome|Arc syndrome|arthrogryposis, renal dysfunction, and cholestasis 1|arthrogryposis, renal dysfunction, and cholestasis 1; ARCS1|ARCS1 MONDO:0008821 arthrogryposis, distal, with mental retardation and characteristic facies biolink:Disease mondo UMLS:C1859723|MESH:C565940|OMIM:208081 UMLS:C1859723|http://identifiers.org/omim/208081|MESH:C565940 http://purl.obolibrary.org/obo/MONDO_0008821 arthrogryposis, distal, with mental retardation and characteristic facies|arthrogryposis, distal, with intellectual disability and characteristic facies UBERON:0015007 cervical vertebra endochondral element biolink:AnatomicalEntity mondo A vertebral endochondral element in the cervical region of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0015007 cervical vertebra element|cervical vertebra skeletal element MONDO:0008820 arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies biolink:Disease mondo MESH:C535385|UMLS:C1859724|OMIM:208080|GARD:0010087 UMLS:C1859724|MESH:C535385|http://identifiers.org/omim/208080 http://purl.obolibrary.org/obo/MONDO_0008820 Chitayat-Hall syndrome|arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies|arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies|distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies UBERON:0015009 lumbar vertebra endochondral element biolink:AnatomicalEntity mondo A lumbar vertebra bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015009 lumbar vertebra skeletal element|lumbar vertebra element UBERON:0015008 thoracic vertebra endochondral element biolink:AnatomicalEntity mondo A vertebral endochondral element in the thoracic region of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0015008 thoracic vertebra skeletal element|thoracic vertebra element UBERON:0015003 ulna endochondral element biolink:AnatomicalEntity mondo Major postaxial endrochondral skeletal element in the anterior zeugopod. http://purl.obolibrary.org/obo/UBERON_0015003 ulna element|ulna skeletal element UBERON:0015002 radius-ulna endochondral element biolink:AnatomicalEntity mondo A radius-ulna bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015002 radius-ulna skeletal element|radius-ulna element UBERON:0015004 tibia endochondral element biolink:AnatomicalEntity mondo The major preaxial endochondral element in the posterior zeugopod[Phenoscape]. http://purl.obolibrary.org/obo/UBERON_0015004 tibia skeletal element|tibia element HP:0030764 Ochronosis biolink:PhenotypicFeature mondo MSH:D009794|UMLS:C0028817|SNOMEDCT_US:410042009 Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. http://purl.obolibrary.org/obo/HP_0030764 UBERON:0005689 2nd arch mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a pharyngeal arch 2. http://purl.obolibrary.org/obo/UBERON_0005689 2nd branchial arch mesenchyme|pharyngeal arch 2 mesenchyme|2nd pharyngeal arch mesenchyme UBERON:0005688 lens vesicle cavity biolink:AnatomicalEntity mondo An anatomical cavity that is part of a lens vesicle. http://purl.obolibrary.org/obo/UBERON_0005688 lens cavity|cavity of lens vesicle|cavity of lens UBERON:0005687 orbitosphenoid cartilage element biolink:AnatomicalEntity mondo A orbitosphenoid endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0005687 sphenoid lesser wing cartilage element UBERON:0003023 pontine tegmentum biolink:AnatomicalEntity mondo Dorsal portion of the pons, containing cranial nervee nuclei, ascending and descending tracts and reticular nuclei. It is continuous with the reticular formation of the medulla (Carpenter, A Core Text of Neuroanatomy, 3rd ed, 1985, pg 133). http://purl.obolibrary.org/obo/UBERON_0003023 dorsal pons|dorsal portion of pons|pars dorsalis pontis|pars posterior pontis|tegmentum of pons|tegmental portion of pons|tegmentum pontis|tegmentum pontis UBERON:0005686 caecum dorsal mesentery biolink:AnatomicalEntity mondo A dorsal mesentery that is part of a caecum. http://purl.obolibrary.org/obo/UBERON_0005686 MONDO:0008819 arteriosclerosis, severe juvenile biolink:Disease mondo UMLS:C1859725|MESH:C565941|OMIM:208060 http://identifiers.org/omim/208060|MESH:C565941|UMLS:C1859725 http://purl.obolibrary.org/obo/MONDO_0008819 arteriosclerosis, severe juvenile UBERON:0005685 midgut dorsal mesentery biolink:AnatomicalEntity mondo A dorsal mesentery that is part of a midgut. http://purl.obolibrary.org/obo/UBERON_0005685 MONDO:0006219 gallbladder small cell neuroendocrine carcinoma biolink:Disease mondo EFO:1000266|NCIT:C6763|UMLS:C1333759|DOID:7133 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells. DOID:7133|UMLS:C1333759|NCIT:C6763 http://purl.obolibrary.org/obo/MONDO_0006219 Oat cell carcinoma of the gallbladder|small cell carcinoma of the gallbladder|small cell carcinoma of gallbladder|gallbladder small cell carcinoma|small cell carcinoma of gall bladder|gallbladder Oat cell carcinoma|gall bladder small cell carcinoma|Oat cell carcinoma of gallbladder|gallbladder small cell neuroendocrine carcinoma|gallbladder small cell NEC UBERON:0015078 proximal carpal endochondral element biolink:AnatomicalEntity mondo A proximal mesopodial endochondral element that is part of a forelimb. http://purl.obolibrary.org/obo/UBERON_0015078 proximal carpal element|proximal carpal MONDO:0006217 gallbladder adenosquamous carcinoma biolink:Disease mondo DOID:5627|NCIT:C7356|ONCOTREE:GBASC|EFO:1000264|UMLS:C1333741 A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components. UMLS:C1333741|DOID:5627|NCIT:C7356 http://purl.obolibrary.org/obo/MONDO_0006217 gallbladder adenosquamous cancer|adenosquamous carcinoma of the gallbladder|adenosquamous carcinoma of gallbladder|gallbladder adenosquamous carcinoma|GBASC|gall bladder adenosquamous carcinoma|adenosquamous gallbladder carcinoma MONDO:0008879 Bowen-Conradi syndrome biolink:Disease mondo MESH:C537081|ICD10:Q87.8|OMIM:211180|UMLS:C1859405|DOID:0050684|GARD:0005950|ICD9:759.89|Orphanet:1270|SCTID:711153001 Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet. MESH:C537081|ORPHA:1270|DOID:0050684|http://identifiers.org/omim/211180|SNOMEDCT:711153001|UMLS:C1859405 http://purl.obolibrary.org/obo/MONDO_0008879 BWCNS|Bowen-Conradi syndrome|Bowen syndrome, Hutterite type|Bowen-Conradi Hutterite syndrome|Bowen Hutterite syndrome (formerly)|Bowen Hutterite syndrome, formerly|Bowen Hutterite syndrome|Bowen-Conradi syndrome; BWCNS gard_rare|ordo_malformation_syndrome MONDO:0006218 gallbladder biliary intraepithelial neoplasia biolink:Disease mondo NCIT:C43606|EFO:1000265|UMLS:C1708174 A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity. UMLS:C1708174|NCIT:C43606 http://purl.obolibrary.org/obo/MONDO_0006218 intracystic BilIN|gallbladder biliary intraepithelial neoplasia|gallbladder BilIN|gallbladder intraepithelial neoplasia|gallbladder dysplasia|intracystic biliary intraepithelial neoplasia MONDO:0021851 alopecia universalis onychodystrophy vitiligo biolink:Disease mondo MESH:C537056|GARD:0000615|UMLS:C2931408 A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun. UMLS:C2931408|MESH:C537056 http://purl.obolibrary.org/obo/MONDO_0021851 alopecia universalis, onychodystrophy, and total vitiligo gard_rare MONDO:0008878 bone dysplasia, lethal Holmgren type biolink:Disease mondo GARD:0000922|OMIM:211120|MESH:C565896|SCTID:732249002|UMLS:C1859407|Orphanet:1842|ICD10:Q77.8 Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988. ORPHA:1842|MESH:C565896|http://identifiers.org/omim/211120|SNOMEDCT:732249002|UMLS:C1859407 http://purl.obolibrary.org/obo/MONDO_0008878 autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type|bone dysplasia lethal Holmgren type|bone dysplasia, lethal, Holmgren type gard_rare|ordo_malformation_syndrome NCBITaxon:7205 Tabanidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7205 horseflies|deerflies|horseflies and deerflies MONDO:0006215 gallbladder adenocarcinoma biolink:Disease mondo NCIT:C9166|DOID:3500|UMLS:C0279651|EFO:1000262 A carcinoma that arises from glandular epithelial cells of the gall bladder. UMLS:C0279651|NCIT:C9166|DOID:3500 http://purl.obolibrary.org/obo/MONDO_0006215 gallbladder adenocarcinoma|gall bladder adenocarcinoma|adenocarcinoma of the gallbladder|adenocarcinoma of gallbladder MONDO:0006216 gallbladder adenoma biolink:Disease mondo NCIT:C7720|EFO:1000263|DOID:0050893|UMLS:C0238137 A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary. UMLS:C0238137|DOID:0050893|NCIT:C7720 http://purl.obolibrary.org/obo/MONDO_0006216 adenoma of the gallbladder|adenoma of gallbladder|gallbladder adenoma|gall bladder adenoma MONDO:0008877 blue diaper syndrome biolink:Disease mondo Orphanet:94086|OMIM:211000|MESH:C536239|ICD10:E70.8|SCTID:59531002|UMLS:C0268478|GARD:0005939 Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. SNOMEDCT:59531002|MESH:C536239|ORPHA:94086|http://identifiers.org/omim/211000|UMLS:C0268478 http://purl.obolibrary.org/obo/MONDO_0008877 familial hypercalcemia-nephrocalcinosis-indicanuria syndrome|hypercalcemia, familial, with nephrocalcinosis and indicanuria|blue diaper syndrome|Drummond syndrome gard_rare|ordo_disease MONDO:0006213 floor of mouth mucoepidermoid carcinoma biolink:Disease mondo NCIT:C8178|EFO:1000260|UMLS:C0280310 A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth. NCIT:C8178|UMLS:C0280310 http://purl.obolibrary.org/obo/MONDO_0006213 mouth floor mucoepidermoid carcinoma|mucoepidermoid carcinoma of floor of mouth|mucoepidermoid carcinoma of the floor of mouth MONDO:0008876 Bloom syndrome biolink:Disease mondo ICD10:Q82.2|Orphanet:125|SCTID:4434006|ICD9:757.39|MESH:D001816|NCIT:C2903|OMIM:210900|DOID:2717|UMLS:C0005859|GARD:0000915 Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. ORPHA:125|NCIT:C2903|MESH:D001816|SNOMEDCT:4434006|DOID:2717|UMLS:C0005859|http://identifiers.org/omim/210900 http://purl.obolibrary.org/obo/MONDO_0008876 congenital telangiectatic erythema syndrome|microcephaly, growth restriction, and increased sister chromatid exchange 1|congenital telangiectatic erythema|growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability|BLS|Bloom syndrome; BLM|Bloom syndrome|Bloom-Torre-Machacek syndrome|BSyn|BS|BLM|MGRISCE1 ordo_disease|gard_rare MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome biolink:Disease mondo SCTID:717914000|OMIM:210745|ICD10:Q87.8|Orphanet:2057|MESH:C536235|GARD:0000905 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive. SNOMEDCT:717914000|MESH:C536235|http://identifiers.org/omim/210745|UMLS:C1859432|ORPHA:2057 http://purl.obolibrary.org/obo/MONDO_0008875 Frydman-Cohen-Karmon syndrome|blepharophimosis with ptosis, syndactyly, and short stature|blepharophimosis - ptosis - esotropia - syndactyly - short stature|Frydman Cohen Karmon syndrome ordo_malformation_syndrome MONDO:0006214 follicular variant thyroid gland papillary carcinoma biolink:Disease mondo NCIT:C126594|UMLS:C3714651|EFO:1000261 A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland. UMLS:C3714651|NCIT:C126594 http://purl.obolibrary.org/obo/MONDO_0006214 FVPTC UBERON:0003091 thyroid primordium biolink:AnatomicalEntity mondo The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. http://purl.obolibrary.org/obo/UBERON_0003091 thyroid primordia MONDO:0008874 Bangstad syndrome biolink:Disease mondo UMLS:C0342284|SCTID:237614004|ICD10:E31.8|OMIM:210740|ICD9:759.89|Orphanet:1227|MESH:C537902|GARD:0000812 Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. ORPHA:1227|MESH:C537902|UMLS:C0342284|SNOMEDCT:237614004|http://identifiers.org/omim/210740 http://purl.obolibrary.org/obo/MONDO_0008874 Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency|Bangstad syndrome|ataxia-diabetes-goiter-gonadal insufficiency syndrome|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency gard_rare|ordo_malformation_syndrome MONDO:0006211 fibrous hamartoma of infancy biolink:Disease mondo EFO:1000257|ICD9:215.9|NCIT:C3942|UMLS:C0265979|SCTID:56364004 A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern. NCIT:C3942|UMLS:C0265979|SNOMEDCT:56364004 http://purl.obolibrary.org/obo/MONDO_0006211 fibrous hamartoma|fibrous hamartoma of infancy|infantile fibrous hamartoma MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 biolink:Disease mondo UMLS:C1859439|MESH:C537320|OMIM:210730 MESH:C537320|http://identifiers.org/omim/210730|UMLS:C1859439 http://purl.obolibrary.org/obo/MONDO_0008873 microcephalic osteodysplastic primordial dwarfism, type III|microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type|Mopd, Caroline Crachami type|Mopd 3|osteodysplastic primordial dwarfism, type 3|Mopd, Sicilian fairy type|microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type MONDO:0006212 flat urothelial hyperplasia biolink:Disease mondo NCIT:C27878|EFO:1000259 A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003 NCIT:C27878 http://purl.obolibrary.org/obo/MONDO_0006212 flat urothelial hyperplasia MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II biolink:Disease mondo SCTID:254103003|ICD10:Q87.1|Orphanet:2637|DOID:0060609|GARD:0009844|OMIM:210720|MESH:C565898 'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.' ORPHA:2637|MESH:C565898|DOID:0060609|SNOMEDCT:254103003|http://identifiers.org/omim/210720 http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type 2|microcephalic osteodysplastic primordial dwarfism, type II; MOPD2|osteodysplastic primordial dwarfism type II|MOPD2|Mopd 2|microcephalic osteodysplastic primordial dwarfism, type 2|microcephalic osteodysplastic primordial dwarfism with tooth abnormalities|microcephalic osteodysplastic primordial dwarfism, type II|MOPD II|osteodysplastic primordial dwarfism, type 2|osteodysplastic primordial dwarfism type 2|Majewski osteodysplastic primordial dwarfism type II|MOPD type II ordo_malformation_syndrome|gard_rare MONDO:0006210 fibrolamellar hepatocellular carcinoma biolink:Disease mondo EFO:1000256|GARD:0009396|SCTID:253018005|MESH:C537258|Orphanet:401920|DOID:5015|ICD10:C22.0|ICDO:8171/3|NCIT:C4131|ONCOTREE:FLC|UMLS:C0334287 A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers. ORPHA:401920|DOID:5015|MESH:C537258|NCIT:C4131|UMLS:C0334287|SNOMEDCT:253018005 http://purl.obolibrary.org/obo/MONDO_0006210 fibrolamellar carcinoma of liver cells|liver cell fibrolamellar carcinoma|hepatocellular carcinoma, fibrolamellar|fibrolamellar hepatocellular carcinoma|FHCC|eosinophilic hepatocellular carcinoma with lamellar fibrosis|oncocytic hepatocellular tumor|fibrolamellar carcinoma|fibrolamellar variant of hepatocellular carcinoma|fibrolamellar hepatocarcinoma|FLC|polygonal cell hepatocellular carcinoma with fibrous stroma|hepatocellular fibrolamellar carcinoma|fibrolamellar oncocytic hepatoma|hepatocellular carcinoma (fibrolamellar variant)|eosinophilic glassy cell hepatoma|hepatocellular carcinoma with increased stromal fibrosis|FL-HCC|polygonal cell type hepatocellular carcinoma with fibrous Stroma|fibrolamellar cancer|fibrolamellar carcinoma of the liver cells ordo_disease MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I biolink:Disease mondo DOID:0060608|OMIM:210710|SCTID:254102008|ICD10:Q87.1 A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. DOID:0060608|SNOMEDCT:254102008|http://identifiers.org/omim/210710 http://purl.obolibrary.org/obo/MONDO_0008871 osteodysplastic primordial dwarfism type I|Taybi-Linder syndrome|low-birth-weight dwarfism with skeletal dysplasia|cephaloskeletal dysplasia|low-birth-weight dwarfism with skeletal dysplasia|MOPD1|microcephalic osteodysplastic primordial dwarfism, type I|microcephalic osteodysplastic primordial dwarfism, type I; MOPD1|Cephaloskeletal dysplasia|MOPD 1|microcephalic osteodysplastic primordial dwarfism, type 1|brachymelic primordial dwarfism|osteodysplastic primordial dwarfism, type 1|Brachymelic primordial dwarfism UBERON:0015079 proximal carpal cartilage biolink:AnatomicalEntity mondo A proximal carpal endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0015079 MONDO:0008870 bird headed-dwarfism, Montreal type biolink:Disease mondo ICD10:Q87.1|OMIM:210700|UMLS:C1859468|GARD:0000895|Orphanet:2617|MESH:C535448 Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. MESH:C535448|UMLS:C1859468|http://identifiers.org/omim/210700|ORPHA:2617 http://purl.obolibrary.org/obo/MONDO_0008870 Bird-headed dwarfism, Montreal type|premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms|Bird-headed dwarfism with features of premature senility|microcephalic primordial dwarfism, Montreal type ordo_malformation_syndrome UBERON:0003098 optic stalk biolink:AnatomicalEntity mondo the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain http://purl.obolibrary.org/obo/UBERON_0003098 pedunculus opticus|optic stalks MONDO:0018209 Alexander disease type I biolink:Disease mondo ICD10:E75.2|Orphanet:363717|UMLS:CN204729 Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. UMLS:CN204729|ORPHA:363717 http://purl.obolibrary.org/obo/MONDO_0018209 AxD type I ordo_clinical_subtype UBERON:0003099 cranial neural crest biolink:AnatomicalEntity mondo neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. http://purl.obolibrary.org/obo/UBERON_0003099 head crest|head neural crest|crista neuralis cranialis|head NCC population|CNC|cephalic neural crest|cranial NCC population HGNC:1260 CFAP410 biolink:OntologyClass mondo http://identifiers.org/hgnc/1260 MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia biolink:Disease mondo Orphanet:363677|ICD10:G71.2 ORPHA:363677 http://purl.obolibrary.org/obo/MONDO_0018206 ordo_disease MONDO:0018205 distal monosomy 1q biolink:Disease mondo UMLS:C4273897|SCTID:717633007|ICD10:Q93.5|Orphanet:36367 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies. UMLS:C4273897|ORPHA:36367|SNOMEDCT:717633007 http://purl.obolibrary.org/obo/MONDO_0018205 monosomy 1qter|distal monosomy type 1q|distal deletion 1q|telomeric deletion 1q ordo_malformation_syndrome MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion biolink:Disease mondo UMLS:CN204726|Orphanet:363700|ICD10:Q85.0 ORPHA:363700|UMLS:CN204726 http://purl.obolibrary.org/obo/MONDO_0018208 Von Recklinghausen disease due to NF1 mutation or intragenic deletion ordo_etiological_subtype MONDO:0018207 2p13.2 microdeletion syndrome biolink:Disease mondo UMLS:CN204723|Orphanet:363680|ICD10:Q93.5 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. ORPHA:363680|UMLS:CN204723 http://purl.obolibrary.org/obo/MONDO_0018207 Del(2)(p13.2) ordo_malformation_syndrome MONDO:0018202 gonadal germ cell tumor biolink:Disease mondo UMLS:CN204712|Orphanet:363582 ORPHA:363582|UMLS:CN204712 http://purl.obolibrary.org/obo/MONDO_0018202 ordo_group_of_disorders MONDO:0018201 extragonadal germ cell tumor biolink:Disease mondo UMLS:CN204711|NCIT:C3918|GARD:0009325|UMLS:C0262963|Orphanet:363579 A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum). ORPHA:363579|UMLS:C0262963|UMLS:CN204711|NCIT:C3918 http://purl.obolibrary.org/obo/MONDO_0018201 extragonadal GCT, NOS|tumor of extragonadal germ cell|tumor of the extragonadal germ cell|neoplasm of extragonadal germ cell|neoplasm of the extragonadal germ cell|extragonadal germ cell tumor|extragonadal germ cell tumors, NOS|primary extragonadal germ cell tumor|extragonadal germ cell neoplasm|extragonadal germ cell neoplasms ordo_group_of_disorders MONDO:0021845 Aloi Tomasini Isaia syndrome biolink:Disease mondo MESH:C537049|GARD:0000417|UMLS:C2931405 A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. UMLS:C2931405|MESH:C537049 http://purl.obolibrary.org/obo/MONDO_0021845 unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization|basal cell nevus, anodontia, abnormal bone mineralization n_of_one|gard_rare MONDO:0018204 20q11.2 microduplication syndrome biolink:Disease mondo ICD10:Q93.5|SCTID:763061004|UMLS:CN204718|Orphanet:363659 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. ORPHA:363659|SNOMEDCT:763061004|UMLS:CN204718 http://purl.obolibrary.org/obo/MONDO_0018204 dup(20)(q11.2) ordo_malformation_syndrome MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome biolink:Disease mondo UMLS:CN204714|Orphanet:363618|ICD10:E34.8 A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. ORPHA:363618|UMLS:CN204714 http://purl.obolibrary.org/obo/MONDO_0018203 LCPS ordo_disease HGNC:1268 TSPEAR biolink:OntologyClass mondo http://identifiers.org/hgnc/1268 MONDO:0021849 alopecia macular degeneration growth retardation syndome biolink:Disease mondo GARD:0000610 http://purl.obolibrary.org/obo/MONDO_0021849 alopecia, macular degeneration, and growth retardation|alopecia macular degeneration growth retardation gard_rare MONDO:0018200 acute encephalopathy with inflammation-mediated status epilepticus biolink:Disease mondo Orphanet:363567 ORPHA:363567 http://purl.obolibrary.org/obo/MONDO_0018200 ordo_group_of_disorders UBERON:0015064 autopod cartilage biolink:AnatomicalEntity mondo A autopod endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0015064 MONDO:0006228 gastric papillary adenocarcinoma biolink:Disease mondo EFO:1000276|ONCOTREE:PSTAD|NCIT:C5472|UMLS:C1333785|DOID:5593 A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores. UMLS:C1333785|DOID:5593|NCIT:C5472 http://purl.obolibrary.org/obo/MONDO_0006228 papillary stomach adenocarcinoma|papillary adenocarcinoma of the stomach|gastric papillary adenocarcinoma|stomach papillary adenocarcinoma|papillary adenocarcinoma of stomach UBERON:0015061 limb endochondral element biolink:AnatomicalEntity mondo A limb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015061 limb bone endochondral element|limb bone skeletal element MONDO:0006229 gastric small cell neuroendocrine carcinoma biolink:Disease mondo UMLS:C1333788|EFO:1000277|NCIT:C6764|ONCOTREE:STSC|DOID:6552 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells. DOID:6552|UMLS:C1333788|NCIT:C6764 http://purl.obolibrary.org/obo/MONDO_0006229 gastric small cell neuroendocrine carcinoma|small cell carcinoma of the stomach|gastric small cell carcinoma|Oat cell carcinoma of the stomach|Oat cell carcinoma of stomach|gastric Oat cell carcinoma|STSC|stomach small cell carcinoma|small cell carcinoma of stomach UBERON:0015060 sphenoid endochondral element biolink:AnatomicalEntity mondo A sphenoid bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015060 sphenoid bone skeletal element|sphenoid element MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma biolink:Disease mondo EFO:1000274|UMLS:C1333782|NCIT:C5266 A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy. UMLS:C1333782|NCIT:C5266 http://purl.obolibrary.org/obo/MONDO_0006226 gastric MALToma|MALToma of the stomach|MALToma of stomach|gastric mucosa-associated lymphoid tissue lymphoma|primary gastric MALT lymphoma|gastric MALT lymphoma|MALT lymphoma of the stomach|MALT lymphoma of stomach|primary MALT lymphoma of the stomach|primary MALT lymphoma of stomach|primary gastric B-cell MALT lymphoma|stomach MALT lymphoma MONDO:0008889 thromboangiitis obliterans biolink:Disease mondo SCTID:52403007|MESH:D013919|MedDRA:10043540|EFO:1001211|ICD10:I73.1|GARD:0005969|OMIM:211480|DOID:12918|NCIT:C35070|COHD:312939|Orphanet:36258|UMLS:C0040021|ICD9:443.1 Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. UMLS:C0040021|MESH:D013919|ORPHA:36258|DOID:12918|http://identifiers.org/omim/211480|SNOMEDCT:52403007|NCIT:C35070 http://purl.obolibrary.org/obo/MONDO_0008889 inflammatory occlusive peripheral vascular disease|TAO|presenile gangrene|BUERGER disease|thromboangiitis obliterans|Buerger's disease|occlusive peripheral vascular disease|thromboangiitis obliterans [Buerger's disease] ordo_disease UBERON:0015063 autopod endochondral element biolink:AnatomicalEntity mondo A endochondral element that is part of a autopod region. http://purl.obolibrary.org/obo/UBERON_0015063 MONDO:0008888 Williams-Campbell syndrome biolink:Disease mondo GARD:0007791|ICD9:748.3|Orphanet:411501|OMIM:211450|ICD10:Q33.4|SCTID:54203008 ORPHA:411501|SNOMEDCT:54203008|http://identifiers.org/omim/211450 http://purl.obolibrary.org/obo/MONDO_0008888 BRONCHOMALACIA|Williams-Campbell syndrome|tracheobronchomalacia ordo_morphological_anomaly MONDO:0006227 gastric neuroendocrine tumor G1 biolink:Disease mondo EFO:1000275|NCIT:C4635|UMLS:C0349529 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic. UMLS:C0349529|NCIT:C4635 http://purl.obolibrary.org/obo/MONDO_0006227 gastric NET G1|stomach carcinoid tumor|gastric ECL cell NET G1|stomach neuroendocrine neoplasm G1|gastric ECL cell, histamine-producing NET|stomach carcinoid tumor|gastric carcinoid tumor|gastric ECL-cell carcinoid tumor|stomach NET G1|gastric enterochromaffin-like cell carcinoid tumor|gastric enterochromaffin-like cell neuroendocrine tumor|grade 1 neuroendocrine neoplasm of stomach|gastric ECL cell NET|stomach neuroendocrine tumor, well differentiated, low grade MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 biolink:Disease mondo UMLS:C2749757|MESH:C567618|OMIM:211400 MESH:C567618|UMLS:C2749757|http://identifiers.org/omim/211400 http://purl.obolibrary.org/obo/MONDO_0008887 bronchiectasis with or without elevated sweat chloride type 1|cystic fibrosis-like syndrome|BESC1|bronchiectasis with or without elevated sweat chloride 1; BESC1|bronchiectasis with or without elevated sweat chloride 1 MONDO:0006224 gastric hamartomatous polyp biolink:Disease mondo UMLS:C0341225|EFO:1000271|SCTID:235685007|NCIT:C4373 A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations. SNOMEDCT:235685007|UMLS:C0341225|NCIT:C4373 http://purl.obolibrary.org/obo/MONDO_0006224 gastric hamartomatous polyp|hamartoma of the stomach|hamartoma of stomach|stomach hamartoma (disease) MONDO:0006225 gastric mantle cell lymphoma biolink:Disease mondo NCIT:C27440|UMLS:C1333780|EFO:1000272 A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course. UMLS:C1333780|NCIT:C27440 http://purl.obolibrary.org/obo/MONDO_0006225 mantle cell lymphoma of the stomach|mantle cell lymphoma of stomach|gastric mantle cell lymphoma|stomach mantle cell lymphoma MONDO:0008886 Sabinas brittle hair syndrome biolink:Disease mondo GARD:0000313|OMIM:211390|Orphanet:3123|MESH:C536320|UMLS:C0796271 MESH:C536320|http://identifiers.org/omim/211390|ORPHA:3123|UMLS:C0796271 http://purl.obolibrary.org/obo/MONDO_0008886 Sabinas brittle hair syndrome|Sabinas syndrome|brittle hair and mental Deficit|brittle hair syndrome, Sabinas type gard_rare UBERON:0003080 anterior neural tube biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0003080 MONDO:0008885 Elsahy-Waters syndrome biolink:Disease mondo GARD:0000955|OMIM:211380|Orphanet:157788|ICD10:Q87.8|MESH:C566373|OMIM:603463|Orphanet:1299|UMLS:C1863870|MESH:C537084|SCTID:719097002 An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. MESH:C566373|ORPHA:157788|http://identifiers.org/omim/211380|http://identifiers.org/omim/603463|SNOMEDCT:719097002|UMLS:C1859384|UMLS:C1863870|MESH:C537084|ORPHA:1299 http://purl.obolibrary.org/obo/MONDO_0008885 brachioskeletogenital syndrome|branchio-skeleto-genital syndrome|ELSAHY-Waters syndrome; ESWS|Elsahy-Waters syndrome|hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss|ESWS|hypospadias-hypertelorism-coloboma and deafness syndrome|BSG syndrome ordo_malformation_syndrome MONDO:0006222 gastric choriocarcinoma biolink:Disease mondo NCIT:C95749|UMLS:C2987398|EFO:1000269 A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases. UMLS:C2987398|NCIT:C95749 http://purl.obolibrary.org/obo/MONDO_0006222 gastric choriocarcinoma MONDO:0008884 oculoosteocutaneous syndrome biolink:Disease mondo OMIM:211370|SCTID:722061006|MESH:C565893|UMLS:C1859385|ICD10:Q87.5|Orphanet:2713 Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. SNOMEDCT:722061006|MESH:C565893|http://identifiers.org/omim/211370|UMLS:C1859385|ORPHA:2713 http://purl.obolibrary.org/obo/MONDO_0008884 anodontia-hypotrichosis syndrome|oculoosteocutaneous syndrome|BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM ordo_malformation_syndrome MONDO:0006223 gastric diffuse large B-cell lymphoma biolink:Disease mondo EFO:1000270|UMLS:C1335483|NCIT:C5253 An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach. NCIT:C5253|UMLS:C1335483 http://purl.obolibrary.org/obo/MONDO_0006223 primary diffuse large B-cell lymphoma of the stomach|primary diffuse large B-cell lymphoma of stomach|primary gastric diffuse large B-cell lymphoma|gastric diffuse large B-cell lymphoma|primary diffuse large B-cell gastric lymphoma MONDO:0006220 gallbladder squamous cell carcinoma biolink:Disease mondo DOID:5535|UMLS:C0279658|NCIT:C9170|EFO:1000267 A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells. DOID:5535|NCIT:C9170|UMLS:C0279658 http://purl.obolibrary.org/obo/MONDO_0006220 epidermoid gallbladder carcinoma|epidermoid carcinoma of the gallbladder|epidermoid carcinoma of gallbladder|gall bladder squamous cell carcinoma|gallbladder squamous cell carcinoma|squamous cell gallbladder carcinoma|gallbladder squamous cell cancer|squamous cell carcinoma of the gallbladder|squamous cell carcinoma of gallbladder MONDO:0008883 brachydactyly, type A2, with microcephaly biolink:Disease mondo MESH:C565894|OMIM:211369|UMLS:C1859393 MESH:C565894|http://identifiers.org/omim/211369|UMLS:C1859393 http://purl.obolibrary.org/obo/MONDO_0008883 brachydactyly, type A2, with microcephaly MONDO:0006221 gastric adenoma biolink:Disease mondo NCIT:C7699|UMLS:C0149826|EFO:1000268 A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps. NCIT:C7699|UMLS:C0149826 http://purl.obolibrary.org/obo/MONDO_0006221 adenoma of stomach|stomach adenoma|gastric adenoma|adenoma of the stomach MONDO:0008882 congenital bowing of long bones biolink:Disease mondo ICD10:Q68.5|ICD10:Q68.4|ICD10:Q68.3|Orphanet:2292|OMIM:211355|GARD:0000953|SCTID:716098006|ICD10:Q68.8|MedDRA:10054064 Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae. UMLS:C1096546|SNOMEDCT:716098006|http://identifiers.org/omim/211355|MEDDRA:10054064|ORPHA:2292 http://purl.obolibrary.org/obo/MONDO_0008882 bowing of long bones congenital|bowing of long bones, asymmetric and symmetric gard_rare|ordo_morphological_anomaly FOODON:00002131 plant based refined or partially-refined food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00002131 MONDO:0008881 kyphomelic dysplasia biolink:Disease mondo UMLS:C0432239|SCTID:254096001|GARD:0010149|ICD9:733.29|OMIM:211350|MESH:C538128|Orphanet:1801 Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome. ORPHA:1801|UMLS:C0432239|http://identifiers.org/omim/211350|SNOMEDCT:254096001|MESH:C538128 http://purl.obolibrary.org/obo/MONDO_0008881 bowing, congenital, with short bones|kyphomelic dysplasia|congenital bowing with short bones gard_rare|ordo_malformation_syndrome MONDO:0008880 Bowen syndrome of multiple malformations biolink:Disease mondo Orphanet:1271|MESH:C538164|OMIM:211200|UMLS:C1859404 http://identifiers.org/omim/211200|UMLS:C1859404|MESH:C538164|ORPHA:1271 http://purl.obolibrary.org/obo/MONDO_0008880 Bowen syndrome of multiple malformations|Bowen syndrome UBERON:0003086 caudal artery biolink:AnatomicalEntity mondo Extension of the dorsal aorta in the tail. http://purl.obolibrary.org/obo/UBERON_0003086 CA UBERON:0003083 trunk neural crest biolink:AnatomicalEntity mondo Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]. http://purl.obolibrary.org/obo/UBERON_0003083 TNC|trunk crest UBERON:0003084 heart primordium biolink:AnatomicalEntity mondo Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. http://purl.obolibrary.org/obo/UBERON_0003084 cardiac field|fused heart primordium UBERON:0003081 lateral plate mesoderm biolink:AnatomicalEntity mondo Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. http://purl.obolibrary.org/obo/UBERON_0003081 mesoderma laminae lateralis|LPM|lateral mesoderm|lateral plate|lateral plate mesenchyme UBERON:0003082 myotome biolink:AnatomicalEntity mondo A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. http://purl.obolibrary.org/obo/UBERON_0003082 myomere|myotome region|myotomus|myotomes|myomeres|muscle plate MONDO:0021834 Akaba Hayasaka syndrome biolink:Disease mondo GARD:0000577|MESH:C535609|UMLS:C2930948 A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia. MESH:C535609|UMLS:C2930948 http://purl.obolibrary.org/obo/MONDO_0021834 frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia gard_rare MONDO:0021836 Aksu von Stockhausen syndrome biolink:Disease mondo MESH:C535611|GARD:0000579 A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. MESH:C535611 http://purl.obolibrary.org/obo/MONDO_0021836 hereditary branchial arch defects|aksu von stockhausen syndrome n_of_one|gard_rare MONDO:0021838 Al Gazali Khidr Prem Chandran syndrome biolink:Disease mondo GARD:0000586|UMLS:C2930951|MESH:C535616 A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. MESH:C535616|UMLS:C2930951 http://purl.obolibrary.org/obo/MONDO_0021838 cherubism, optic atrophy and short stature n_of_one|gard_rare UBERON:0003089 sclerotome biolink:AnatomicalEntity mondo Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. http://purl.obolibrary.org/obo/UBERON_0003089 sclerotomes|sclerotomus MONDO:0021839 spirochaetales infections biolink:Disease mondo UMLS:C0037974|MESH:D013145|GARD:0007682 Infections with bacteria of the order SPIROCHAETALES. MESH:D013145|UMLS:C0037974 http://purl.obolibrary.org/obo/MONDO_0021839 Infection, Spirochaetales|Infections, Spirochaetales|Infection, Spirochete|Spirochaetales Infection|Spirochetosis|Spirochetal infection|SPIROCHETE INFECT|Infections, Spirochete|Spirochete Infection|SPIROCHAETALES INFECT|Spirochaetales Infections|Spirochete Infections|INFECT SPIROCHAETALES|INFECT SPIROCHETE gard_rare UBERON:0015054 iliac endochondral element biolink:AnatomicalEntity mondo A iliac bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015054 iliac element|iliac skeletal element UBERON:0015053 humerus endochondral element biolink:AnatomicalEntity mondo A humerus bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015053 humerus skeletal element|humerus element OBO:chebi#has_parent_hydride has parent hydride biolink:OntologyClass mondo http://purl.obolibrary.org/obo/chebi#has_parent_hydride UBERON:0015056 ischial endochondral element biolink:AnatomicalEntity mondo A ischial bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015056 ischial skeletal element|ischial element MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification biolink:Disease mondo GARD:0008552|UMLS:C1859519|OMIM:210050|MESH:C565905 http://identifiers.org/omim/210050|UMLS:C1859519|MESH:C565905 http://purl.obolibrary.org/obo/MONDO_0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification|cerebral aneurysm-cirrhosis syndrome gard_rare UBERON:0015055 pubic endochondral element biolink:AnatomicalEntity mondo A pubic bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015055 pubic element|pubic skeletal element MONDO:0008858 Behr syndrome biolink:Disease mondo OMIM:210000|MESH:C537669|SCTID:718221007|UMLS:C0221061|ICD10:H35.5|Orphanet:1239|GARD:0000849 Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient. SNOMEDCT:718221007|ORPHA:1239|MESH:C537669|UMLS:C0221061|http://identifiers.org/omim/210000 http://purl.obolibrary.org/obo/MONDO_0008858 optic atrophy, infantile hereditary, with neurologic abnormalities|Behr syndrome; BEHRS|BEHRS|optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss|Behr syndrome|optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss|optic atrophy, infantile hereditary, Behr complicated form of gard_rare|ordo_malformation_syndrome UBERON:0015050 tarsus endochondral element biolink:AnatomicalEntity mondo A tarsus bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015050 tarsus skeletal element|tarsus element GO:0102175 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity biolink:OntologyClass mondo Catalysis of the reaction: a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH. http://purl.obolibrary.org/obo/GO_0102175 MONDO:0008857 Beemer-Ertbruggen syndrome biolink:Disease mondo SCTID:717859007|GARD:0000846|MESH:C537668|Orphanet:1237|OMIM:209970|UMLS:C1859526|ICD10:Q87.8 Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. UMLS:C1859526|ORPHA:1237|MESH:C537668|SNOMEDCT:717859007|http://identifiers.org/omim/209970 http://purl.obolibrary.org/obo/MONDO_0008857 Beemer lethal malformation syndrome|Beemer Ertbruggen syndrome|hydrocephalus, Cardiac malformation, dense bones, etc.|peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome|hydrocephalus, cardiac malformation, dense bones, etc|lethal hydrocephalus-cardiac malformation-dense bones syndrome ordo_malformation_syndrome|gard_rare MONDO:0008856 immunodeficiency 27A biolink:Disease mondo UMLS:C4011949|GARD:0009185|OMIM:209950 UMLS:C4011949|http://identifiers.org/omim/209950 http://purl.obolibrary.org/obo/MONDO_0008856 immunodeficiency type 27A|atypical mycobacterial infection, familial disseminated|IFNGR1 deficiency, autosomal recessive|immunodeficiency 27A; IMD27A|atypical mycobacterial infection, disseminated|IMD27A|immunodeficiency 27A|immunodeficiency 27A, Mycobacteriosis, autosomal recessive|atypical mycobacteriosis, familial|mycobacterial disease, Mendelian susceptibility to UBERON:0015052 femur endochondral element biolink:AnatomicalEntity mondo A femur bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015052 femur skeletal element|femur element MONDO:0008855 MHC class II deficiency biolink:Disease mondo OMIM:209920|GARD:0000824|ICD10:D81.7|DOID:5812|SCTID:71904008|ICD10:D81.6|Orphanet:572|NCIT:C3895|MESH:C537079|UMLS:CN239286 Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood. UMLS:CN239286|NCIT:C3895|MESH:C537079|SNOMEDCT:71904008|DOID:5812|ORPHA:572|http://identifiers.org/omim/209920 http://purl.obolibrary.org/obo/MONDO_0008855 Bare lymphocyte syndrome, type II, complementation group A|severe combined immunodeficiency, HLA Class II-negative|BLS, type II|SCID due to absent class II HLA antigens|MHC class II expression deficiency|BARE lymphocyte syndrome, type II|Bare lymphocyte syndrome type 2|HLA class 2-negative SCID|major histocompatibility complex class II expression deficiency|SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included|BARE lymphocyte syndrome|Bls, type 2|severe combined immunodeficiency, HLA class ii-negative|BARE lymphocyte syndrome, type II, complementation group E, included|bare lymphocyte syndrome type II|HLA class 2-negative severe combined immunodeficiency|BARE lymphocyte syndrome, type II, complementation group D, included|Bare lymphocyte syndrome, type 2|BARE lymphocyte syndrome, type II, complementation group C, included|immunodeficiency by defective expression of HLA class 2|Bare lymphocyte syndrome|BARE lymphocyte syndrome, type II, complementation group B, included|BLS type II|SCID, HLA Class 2-negative|BLS|BLS 2|Bare lymphocyte syndrome, type II, complementation group E|BLSII|Bare lymphocyte syndrome, type II|Bare lymphocyte syndrome, type II, complementation group D|Bare lymphocyte syndrome, type II, complementation group C|SCID, HLA Class II-negative|immunodeficiency by defective expression of HLA class type 2|Bare lymphocyte syndrome, type II, complementation group B|Bare lymphocyte syndrome 2 gard_rare|ordo_disease MONDO:0008854 Bardet-Biedl syndrome 1 biolink:Disease mondo UMLS:C2936862|EFO:0009021|ICD10:Q87.89|GARD:0000820|OMIM:209900|MESH:C537909|DOID:0110123 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. UMLS:C2936862|MESH:C537909|DOID:0110123|http://identifiers.org/omim/209900 http://purl.obolibrary.org/obo/MONDO_0008854 Bardet-Biedl syndrome 1; BBS1|Bardet-Biedl syndrome type 1|Bardet-Biedl syndrome 1|BBS1 gard_rare MONDO:0008853 Barber-Say syndrome biolink:Disease mondo DOID:0060549|MESH:C537908|SCTID:408537003|GARD:0000819|OMIM:209885|ICD10:Q87.0|UMLS:C1319466|Orphanet:1231 Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. ORPHA:1231|MESH:C537908|http://identifiers.org/omim/209885|DOID:0060549|UMLS:C1319466|SNOMEDCT:408537003 http://purl.obolibrary.org/obo/MONDO_0008853 hypertrichosis atrophic skin ectropion macrostomia|Barber Say syndrome|Barber-Say syndrome|BARBER-SAY syndrome; BBRSAY|Bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|BBRSAY|hypertrichosis, atrophic skin, ectropion, and macrostomia gard_rare|ordo_malformation_syndrome NCBITaxon:9845 Ruminantia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9845 MONDO:0008852 congenital central hypoventilation syndrome biolink:Disease mondo ICD10:G47.3|DOID:0060731|MedDRA:10066131|OMIM:209880|MedDRA:10007982|UMLS:C1275808|SCTID:230499002|GARD:0008535|NCIT:C98889|Orphanet:661 A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients. MEDDRA:10066131|SNOMEDCT:230499002|MEDDRA:10007982|ORPHA:661|http://identifiers.org/omim/209880|NCIT:C98889|DOID:0060731|UMLS:C1275808 http://purl.obolibrary.org/obo/MONDO_0008852 ondine's curse (formerly)|congenital ondine curse|Haddad syndrome|ondine curse, congenital|CCHS|central hypoventilation syndrome, congenital|ondine curse (formerly)|autonomic control, congenital failure of|ondine syndrome|ondine curse|Cchs with Hirschsprung disease|primary alveolar hypoventilation|ondine-Hirschsprung disease|congenital failure of autonomic control|central congenital hypoventilation syndrome|congenital central alveolar hypoventilation syndrome|idiopathic congenital central alveolar hypoventilation|central hypoventilation syndrome, congenital; CCHS|congenital central hypoventilation clingen|gard_rare|ordo_disease MONDO:0008851 obsolete autism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008851 MONDO:0008850 Cooper-Jabs syndrome biolink:Disease mondo Orphanet:1488|SCTID:720748007|OMIM:209770|ICD10:Q87.8|MESH:C565923 Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive. ORPHA:1488|SNOMEDCT:720748007|MESH:C565923|http://identifiers.org/omim/209770 http://purl.obolibrary.org/obo/MONDO_0008850 aural atresia, multiple congenital anomalies, and mental retardation|aural atresia, multiple congenital anomalies, and intellectual disability|aural atresia-multiple congenital anomalies-intellectual disability syndrome ordo_malformation_syndrome UBERON:0015057 scapula endochondral element biolink:AnatomicalEntity mondo A scapula bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015057 scapula skeletal element|scapula element UBERON:0015059 orbitosphenoid endochondral element biolink:AnatomicalEntity mondo A orbitosphenoid bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015059 orbitosphenoid element|orbitosphenoid skeletal element MONDO:0021829 agnathia-microstomia-synotia biolink:Disease mondo UMLS:C2931718|GARD:0010125|MESH:C538059 MESH:C538059|UMLS:C2931718 http://purl.obolibrary.org/obo/MONDO_0021829 Plurimalformative syndrome|agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment gard_rare UBERON:0003076 posterior neural tube biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0003076 UBERON:0003077 paraxial mesoderm biolink:AnatomicalEntity mondo The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO] http://purl.obolibrary.org/obo/UBERON_0003077 mesoderma paraxiale|paraxial mesenchyme|somitic mesoderm HP:0003125 Reduced factor VIII activity biolink:PhenotypicFeature mondo UMLS:C3494187|MSH:D006467|UMLS:C4025649|SNOMEDCT_US:234440005 Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. http://purl.obolibrary.org/obo/HP_0003125 Factor VIII deficiency HP:0003124 Hypercholesterolemia biolink:PhenotypicFeature mondo SNOMEDCT_US:166830008|UMLS:C0020443|SNOMEDCT_US:13644009|UMLS:C0595929|MSH:D006937 An increased concentration of cholesterol in the blood. http://purl.obolibrary.org/obo/HP_0003124 High cholesterol|Increased total cholesterol|Elevated serum cholesterol|Elevated total cholesterol UBERON:0003074 mesonephric duct biolink:AnatomicalEntity mondo Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. http://purl.obolibrary.org/obo/UBERON_0003074 archinephric duct|Leydig's duct|Wolffian duct|renal duct|ductus mesonephricus; ductus Wolffi UBERON:0003075 neural plate biolink:AnatomicalEntity mondo A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA] http://purl.obolibrary.org/obo/UBERON_0003075 lamina neuralis|presumptive central nervous system UBERON:0003072 optic cup biolink:AnatomicalEntity mondo Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. http://purl.obolibrary.org/obo/UBERON_0003072 eye cup|eyecup|ophtalmic cup|ocular cup UBERON:0003073 lens placode biolink:AnatomicalEntity mondo A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. http://purl.obolibrary.org/obo/UBERON_0003073 lens placodes|placoda lentis HP:0003128 Lactic acidosis biolink:PhenotypicFeature mondo UMLS:C0347959|UMLS:C0001125|MSH:D000140|SNOMEDCT_US:190882007|SNOMEDCT_US:91273001 An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. http://purl.obolibrary.org/obo/HP_0003128 Lactic acidemia|Lacticacidemia|Lacticacidosis|Increased lactate in body|Hyperlacticacidemia UBERON:0003070 trigeminal placode complex biolink:AnatomicalEntity mondo A neurogenic placode that arises at the level of the midbrain-hindbrain boundary and develops into a trigeminal ganglion. http://purl.obolibrary.org/obo/UBERON_0003070 profundus placode|trigeminal V placode|trigeminal placodes|trigeminal placode|profundus V placode UBERON:0003071 eye primordium biolink:AnatomicalEntity mondo Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. http://purl.obolibrary.org/obo/UBERON_0003071 optic field|optic placodes|occular primordium|optic placode|optic placode of camera-type eye|ocular primordium|eye anlage|optic primordium|eye field|eye placode MONDO:0021824 adult progressive spinal muscular atrophy, Aran Duchenne type biolink:Disease mondo GARD:0009132 A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others. http://purl.obolibrary.org/obo/MONDO_0021824 Aran Duchenne spinal muscular atrophy|adult progressive spinal muscular atrophy Aran Duchenne type|adult SMA Aran Duchenne type gard_rare MONDO:0021826 aerobic Actinomyces infection biolink:Disease mondo GARD:0009779|UMLS:C2931717|MESH:C538054 Infection with the less common aerobic antinomyces bacteria. UMLS:C2931717|MESH:C538054 http://purl.obolibrary.org/obo/MONDO_0021826 gard_rare HP:0003121 Limb joint contracture biolink:PhenotypicFeature mondo UMLS:C1969879 A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. http://purl.obolibrary.org/obo/HP_0003121 Limb contractures HP:0030718 Right atrial enlargement biolink:PhenotypicFeature mondo Fyler:2859|UMLS:C0748427|Fyler:1771|SNOMEDCT_US:67751000119106 Increase in size of the right atrium. http://purl.obolibrary.org/obo/HP_0030718 Right atrial dilatation|Enlarged heart right atrium|Dilated right atrium UBERON:0003078 epibranchial placode biolink:AnatomicalEntity mondo Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. http://purl.obolibrary.org/obo/UBERON_0003078 ventrolateral placode|epibranchial placodes UBERON:0015043 manual digit 1 metacarpus endochondral element biolink:AnatomicalEntity mondo A manual digit 1 metacarpus bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015043 manual digit 1 metacarpus skeletal element|manual digit I metacarpus endochondral element|manual digit 1 metacarpus element UBERON:0015042 manual digit metacarpus endochondral element biolink:AnatomicalEntity mondo A manual digit metacarpus bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015042 manual digit metacarpus skeletal element|manual digit metacarpus element MONDO:0006208 fallopian tube serous adenocarcinoma biolink:Disease mondo NCIT:C40099|UMLS:C1517124|EFO:1000253|DOID:5598 A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma. NCIT:C40099|DOID:5598|UMLS:C1517124 http://purl.obolibrary.org/obo/MONDO_0006208 fallopian tube serous adenocarcinoma MONDO:0006209 fibroblastic neoplasm biolink:Disease mondo EFO:1000255|NCIT:C7075 A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. NCIT:C7075 http://purl.obolibrary.org/obo/MONDO_0006209 fibroblastic tumor|fibroblastic neoplasm|fibrogenicTumor|fibrous neoplasm|fibrocytic neoplasm|fibrocytic tumor|fibrous tumor|fibrogenic neoplasm MONDO:0006206 fallopian tube carcinoma biolink:Disease mondo DOID:1963|EFO:1000251|UMLS:C0238122|NCIT:C3867|SCTID:276870001 A carcinoma that arises from epithelial cells of the fallopian tube. DOID:1963|UMLS:C0238122|NCIT:C3867|SNOMEDCT:276870001 http://purl.obolibrary.org/obo/MONDO_0006206 cancer of the fallopian tube|cancer of fallopian tube|carcinoma of fallopian tube|carcinoma of the fallopian tube|fallopian tube carcinoma|fallopian tube Ca|fallopian tube cancer MONDO:0008869 Seckel syndrome 1 biolink:Disease mondo DOID:0070007|UMLS:C1837590|OMIM:210600|UMLS:CN033164 Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene. http://identifiers.org/omim/210600|UMLS:CN033164|UMLS:C1837590|DOID:0070007 http://purl.obolibrary.org/obo/MONDO_0008869 Seckel syndrome caused by mutation in ATR|SCKL1|Seckel syndrome type 1|Sckl|Seckel syndrome 1|nanocephalic dwarfism|Bird-headed dwarfism|microcephalic primordial dwarfism 1|microcephalic primordial dwarfism I|Seckel-type dwarfism|ATR Seckel syndrome|Seckel syndrome 1; SCKL1|Seckel syndrome 3 MONDO:0008868 biliary malformation with renal tubular insufficiency biolink:Disease mondo UMLS:C0400972|MESH:C537726|OMIM:210550|SCTID:235914003 http://identifiers.org/omim/210550|UMLS:C0400972|MESH:C537726|SNOMEDCT:235914003 http://purl.obolibrary.org/obo/MONDO_0008868 biliary malformation with renal tubular insufficiency|cholestatic jaundice and renal tubular insufficiency MONDO:0006207 fallopian tube carcinosarcoma biolink:Disease mondo UMLS:C1517117|DOID:1970|EFO:1000252|NCIT:C40124 A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor. DOID:1970|NCIT:C40124|UMLS:C1517117 http://purl.obolibrary.org/obo/MONDO_0006207 fallopian tube malignant mixed mesodermal (mullerian) tumor|fallopian tube carcinosarcoma|fallopian tube malignant mixed mesodermal (Müllerian) tumor|fallopian tube malignant mixed Mullerian tumor MONDO:0008867 biliary atresia biolink:Disease mondo SCTID:77480004|DOID:13608|UMLS:C0005411|COHD:196796|ICD10:Q44.2|MESH:D001656|MedDRA:10003650|ICD9:751.61|NCIT:C34421|GARD:0012010|OMIM:210500|Orphanet:30391 Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment. NCIT:C34421|MESH:D001656|ORPHA:30391|DOID:13608|MEDDRA:10003650|UMLS:C0005411|SNOMEDCT:77480004|http://identifiers.org/omim/210500 http://purl.obolibrary.org/obo/MONDO_0008867 atresia of bile ducts|congenital biliary atresia|biliary atresia, extrahepatic; EHBA|isolated biliary atresia|isolated atresia of bile ducts|EHBA|atresia of bile duct|non-syndromic biliary atresia|biliary atresia, congenital|biliary atresia, extrahepatic gard_rare|ordo_morphological_anomaly UBERON:0015041 pedal digit 5 metatarsal endochondral element biolink:AnatomicalEntity mondo A pedal digit 5 metatarsal bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015041 pedal digit 5 metatarsal element|pedal digit V metatarsal endochondral element|pedal digit 5 metatarsal skeletal element MONDO:0006204 obsolete extramammary Paget disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006204 MONDO:0008866 bifid nose, autosomal recessive biolink:Disease mondo OMIM:210400 Autosomal recessive form of bifid nose. http://identifiers.org/omim/210400 http://purl.obolibrary.org/obo/MONDO_0008866 Nose, Median cleft of|median fissure of Nose|bifid nose, autosomal recessive|autosomal recessive bifid nose MONDO:0006205 obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006205 MONDO:0006202 extrahepatic bile duct adenosquamous carcinoma biolink:Disease mondo NCIT:C5778|EFO:1000247 A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components. NCIT:C5778 http://purl.obolibrary.org/obo/MONDO_0006202 extrahepatic bile duct adenosquamous carcinoma|adenosquamous carcinoma of the bile duct|adenosquamous bile duct carcinoma|bile duct adenosquamous carcinoma|adenosquamous carcinoma of bile duct MONDO:0008865 Bietti crystalline corneoretinal dystrophy biolink:Disease mondo OMIM:210370|DOID:0050664|MESH:C535440|Orphanet:41751|GARD:0010050|UMLS:C1859486|ICD10:H15.5|SCTID:312927001 Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness. SNOMEDCT:312927001|DOID:0050664|MESH:C535440|ORPHA:41751|http://identifiers.org/omim/210370|UMLS:C1859486 http://purl.obolibrary.org/obo/MONDO_0008865 BCD|Bietti crystalline retinopathy|Bietti tapetoretinal Degeneration with marginal corneal dystrophy|Bietti crystalline dystrophy|Bietti's crystalline dystrophy|Bietti crystalline corneoretinal dystrophy|Bietti crystalline corneoretinal dystrophy; BCD gard_rare|ordo_disease MONDO:0008864 Biemond syndrome type 2 biolink:Disease mondo GARD:0000882|Orphanet:141333|SCTID:717887003|MESH:C565902|UMLS:C1859487|OMIM:210350 Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. UMLS:C2930903|SNOMEDCT:717887003|MESH:C565902|http://identifiers.org/omim/210350|ORPHA:141333|UMLS:C1859487 http://purl.obolibrary.org/obo/MONDO_0008864 Biemond syndrome type 2|BIEMOND syndrome II|iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly|BS2|hypogonadism-short stature-coloboma-preaxial polydactyly syndrome|Biemond syndrome 2|iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly gard_rare|ordo_disease MONDO:0006203 extrahepatic bile duct squamous cell carcinoma biolink:Disease mondo EFO:1000248|NCIT:C5777 A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells. NCIT:C5777 http://purl.obolibrary.org/obo/MONDO_0006203 bile duct squamous cell carcinoma|squamous cell bile duct carcinoma|squamous cell carcinoma of the bile duct|squamous cell carcinoma of bile duct|extrahepatic bile duct squamous cell carcinoma MONDO:0006200 epithelioid cell uveal melanoma biolink:Disease mondo DOID:7040|NCIT:C35780|EFO:1000244|UMLS:C1333422 A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes. UMLS:C1333422|NCIT:C35780|DOID:7040 http://purl.obolibrary.org/obo/MONDO_0006200 uveal epithelioid cell melanoma|epithelioid cell melanoma of uvea|uvea epithelioid cell melanoma|epithelioid cell uveal melanoma MONDO:0008863 sitosterolemia biolink:Disease mondo Orphanet:101022|UMLS:C0342907|Orphanet:2882|NCIT:C125694|OMIMPS:210250|MedDRA:10063985|SCTID:238104009|MESH:C537345|GARD:0007653|DOID:0090019|ICD10:E78.0|OMIMPS:215250 (2p21) genes. MESH:C537345|ORPHA:2882|SNOMEDCT:238104009|DOID:0090019|UMLS:C0342907|MEDDRA:10063985|ORPHA:101022|NCIT:C125694 http://purl.obolibrary.org/obo/MONDO_0008863 phytosterolemia|retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body|STSL|macrothrombocytopenia/stomatocytosis, Mediterranean|sitosterolemia|plant sterol storage disease gard_rare|ordo_disease MONDO:0006201 ethmoid sinus adenoid cystic carcinoma biolink:Disease mondo UMLS:C1333473|EFO:1000246|DOID:2764|NCIT:C6238 An adenoid cystic carcinoma that affects the ethmoid sinus. UMLS:C1333473|NCIT:C6238|DOID:2764 http://purl.obolibrary.org/obo/MONDO_0006201 adenoid cystic carcinoma of the ethmoid sinus|adenoid cystic carcinoma of ethmoid sinus MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency biolink:Disease mondo OMIM:210210|GARD:0009151|MESH:C535309 Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene. MESH:C535309|http://identifiers.org/omim/210210 http://purl.obolibrary.org/obo/MONDO_0008862 methylcrotonylglycinuria, type 2|MCCC2 3-methylcrotonyl-CoA carboxylase deficiency|MCC 2 deficiency|3-methylcrotonylglycinuria 2|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2|3-Methylcrotonyl-CoA carboxylase 2 deficiency|3 alpha methylcrotonyl-CoA carboxylase 2 deficiency|MCC2 deficiency|MCC2D|3-METHYLCROTONYL-CoA carboxylase 2 deficiency; MCC2D|3 alpha methylcrotonylglycinuria 2|methylcrotonylglycinuria type 2 MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency biolink:Disease mondo GARD:0005665|OMIM:210200|UMLS:CN028786|MESH:C535308 Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene. UMLS:CN028786|MESH:C535308|http://identifiers.org/omim/210200 http://purl.obolibrary.org/obo/MONDO_0008861 deficiency of methylcrotonoyl-Coa carboxylase|methylcrotonylglycinuria type 1|3 alpha methylcrotonylglycinuria 1|Bmcc deficiency|3-methylcrotonyl-CoA carboxylase 1 deficiency|MCCC1 3-methylcrotonyl-CoA carboxylase deficiency|3 Methylcrotonyl-CoA carboxylase 1 deficiency|MCC deficiency|3-methylcrotonylglycinuria 1|3-Methylcrotonyl-Coa carboxylase deficiency|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1|3-methylcrotonylglycinuria|3-Methylcrotonyl-Coa carboxylase 1 deficiency|methylcrotonoyl-CoA carboxylase 1 deficiency|MCC1D|Mcc1 deficiency|3 methylcrotonylglycinuria|3-MCC deficiency|3 Alpha methylcrotonylglycinuria 1|methylcrotonylglycinuria type I|MCC1 deficiency|Mccd type 1|3-Methylcrotonyl-Coenzyme A carboxylase deficiency|3-METHYLCROTONYL-CoA carboxylase 1 deficiency; MCC1D|MCCD type 1|MCC 1 deficiency|Methylcrotonyl-Coa carboxylase deficiency|3 Methylcrotonyl-CoA carboxylase deficiency|3-methylcrotonylglycinuria I gard_rare UBERON:0015047 manual digit 5 metacarpus endochondral element biolink:AnatomicalEntity mondo A manual digit 5 metacarpus bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015047 manual digit V metacarpus endochondral element|manual digit 5 metacarpus skeletal element|manual digit 5 metacarpus element MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of biolink:Disease mondo OMIM:210100|MESH:C565904|UMLS:C1859518 MESH:C565904|http://identifiers.org/omim/210100|UMLS:C1859518 http://purl.obolibrary.org/obo/MONDO_0008860 Baib urinary excretion|Beta-aminoisobutyric aciduria|BETA-aminoisobutyric aciduria; BAIBA|BAIBA|hyper-Beta-aminoisobutyric aciduria|beta-aminoisobutyric acid, urinary excretion of UBERON:0015049 carpus endochondral element biolink:AnatomicalEntity mondo A carpus bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015049 carpus element|carpus skeletal element HP:0030724 Central nervous system cyst biolink:PhenotypicFeature mondo UMLS:C0349606|MSH:D020863|SNOMEDCT_US:277333006 A fluid-filled sac (cyst) located within the central nervous system. http://purl.obolibrary.org/obo/HP_0030724 CNS cyst|Cyst of the central nervous system UBERON:0003066 pharyngeal arch 2 biolink:AnatomicalEntity mondo The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. http://purl.obolibrary.org/obo/UBERON_0003066 branchial arch 2|second pharyngeal arch|hyoid bars|pharyngeal arch 2|second branchial arch|second visceral arch|arcus pharyngeus secundus|2nd visceral arch|hyoid arch|visceral arch 2|pharyngeal arches 2|2nd arch|2nd pharyngeal arch UBERON:0003063 prechordal plate biolink:AnatomicalEntity mondo A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue http://purl.obolibrary.org/obo/UBERON_0003063 head mesoderm|head mesenchyme UBERON:0003064 intermediate mesoderm biolink:AnatomicalEntity mondo The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. http://purl.obolibrary.org/obo/UBERON_0003064 mesenchyma intermedium|IM|intermediate plate mesoderm|intermediate mesenchyme|intermediate plate UBERON:0003061 blood island biolink:AnatomicalEntity mondo Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. http://purl.obolibrary.org/obo/UBERON_0003061 caudal hematopoietic tissue|ventral lateral plate mesoderm|ventral blood island|posterior ICM|blood islands|VBI|posterior blood island UBERON:0003060 pronephric duct biolink:AnatomicalEntity mondo In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. http://purl.obolibrary.org/obo/UBERON_0003060 archinephric duct|pronephric ducts|ductus pronephricus NCBITaxon:7203 Brachycera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7203 MONDO:0021811 acute mountain sickness biolink:Disease mondo SCTID:78590007|GARD:0005730|UMLS:C0238284|ICD9:993.2 Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances. SNOMEDCT:78590007|UMLS:C0238284 http://purl.obolibrary.org/obo/MONDO_0021811 Mountain sickness|soroche|altitude sickness|acute mountain sickness|high altitude pulmonary edema|altitude anoxia|acosta's disease|high altitude cerebral edema gard_rare MONDO:0021812 adnexal spiradenoma/cylindroma of a sweat gland biolink:Disease mondo SCTID:274903001|NCIT:C27094|GARD:0008641|ICDO:8200/0 A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative. SNOMEDCT:274903001|NCIT:C27094 http://purl.obolibrary.org/obo/MONDO_0021812 cylindroma of the skin|cylindroma|adnexal sweat gland spiradenoma/cylindroma|dermal cylindroma|cylindroma of skin gard_rare UBERON:0003069 otic placode biolink:AnatomicalEntity mondo A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK] http://purl.obolibrary.org/obo/UBERON_0003069 auditory placode|ear/otic placode|ear placode|octaval VIII placode|placoda otica|octaval placode HP:0003133 Abnormality of the spinocerebellar tracts biolink:PhenotypicFeature mondo UMLS:C4025647 An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. http://purl.obolibrary.org/obo/HP_0003133 UBERON:0003067 dorsolateral placode biolink:AnatomicalEntity mondo Lateral neurogenic placodes positioned dorsal of the epibranchial placodes. http://purl.obolibrary.org/obo/UBERON_0003067 dorsolateral placodes UBERON:0003068 axial mesoderm biolink:AnatomicalEntity mondo The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. http://purl.obolibrary.org/obo/UBERON_0003068 chordamesoderm UBERON:0005629 vascular plexus biolink:AnatomicalEntity mondo A vascular network formed by frequent anastomoses between the blood vessels (arteries or veins) of a part. http://purl.obolibrary.org/obo/UBERON_0005629 plexus vasculosus HGNC:3800 FOXC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3800 UBERON:0005637 pyloric region epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a pylorus. http://purl.obolibrary.org/obo/UBERON_0005637 UBERON:0005636 caecum epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a caecum. http://purl.obolibrary.org/obo/UBERON_0005636 UBERON:0005631 extraembryonic membrane biolink:AnatomicalEntity mondo Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. http://purl.obolibrary.org/obo/UBERON_0005631 UBERON:0005630 fetal membrane biolink:AnatomicalEntity mondo The amnion and chorion which surround and protect a developing fetus. http://purl.obolibrary.org/obo/UBERON_0005630 adnexa fetalia CHEBI:46662 mineral biolink:ChemicalSubstance mondo In general, a mineral is a chemical substance that is normally crystalline formed and has been formed as a result of geological processes. The term also includes metamict substances (naturally occurring, formerly crystalline substances whose crystallinity has been destroyed by ionising radiation) and can include naturally occurring amorphous substances that have never been crystalline ('mineraloids') such as georgite and calciouranoite as well as substances formed by the action of geological processes on bigenic compounds ('biogenic minerals'). http://purl.obolibrary.org/obo/CHEBI_46662 minerals|minerales|mineraux|mineral|Minerale HGNC:3808 FOXE3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3808 CHEBI:46663 silicate mineral biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_46663 Silikate|silicatos|silicate minerals|Silikatminerale|silicates|silicato|Silikat HGNC:3806 FOXE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3806 UBERON:0005619 secondary palatal shelf biolink:AnatomicalEntity mondo The outgrowths of the embryonic maxillary prominences that come together during prenatal development to form the secondary palate http://purl.obolibrary.org/obo/UBERON_0005619 lateral palatine process|palatine shelf|secondary palatal shelf|palatal shelf|palatal shelves HGNC:3804 FOXD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3804 UBERON:0005617 mesenteric vein biolink:AnatomicalEntity mondo A vein that returns blood from the intestines. http://purl.obolibrary.org/obo/UBERON_0005617 intestinal vein HGNC:3801 FOXC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3801 UBERON:0005616 mesenteric artery biolink:AnatomicalEntity mondo Arteries which arise from the abdominal aorta and distribute to most of the intestines. http://purl.obolibrary.org/obo/UBERON_0005616 CHEBI:46661 asbestos biolink:ChemicalSubstance mondo Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements. http://purl.obolibrary.org/obo/CHEBI_46661 asbesto|Asbest|asbestos HGNC:3809 FOXF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3809 UBERON:0005626 ventral mesogastrium biolink:AnatomicalEntity mondo Portion of ventral mesentery closest to the stomach. http://purl.obolibrary.org/obo/UBERON_0005626 foregut ventral mesentery HGNC:3811 FOXG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3811 UBERON:0005625 tubotympanic recess lumen biolink:AnatomicalEntity mondo The cavity formed by the tubotympanic recess epithelium. http://purl.obolibrary.org/obo/UBERON_0005625 tubotympanic recess|tubotympanic recess space|tubotympanic recess cavity|cavity of tubotympanic recess UBERON:0005624 suprarenal artery biolink:AnatomicalEntity mondo Artery that supplies blood to the adrenal glands. http://purl.obolibrary.org/obo/UBERON_0005624 adrenal artery UBERON:0005623 semi-lunar valve biolink:AnatomicalEntity mondo the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0005623 semilunar valves|semilunar valve UBERON:0005622 right dorsal aorta biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005622 HGNC:3819 FOXO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3819 UBERON:0005609 iliac artery biolink:AnatomicalEntity mondo Any of the arteries that arise from a bifurcation of the aorta supplying the pelvic or abdomen. Examples: Common iliac artery, External iliac artery, Internal iliac artery http://purl.obolibrary.org/obo/UBERON_0005609 HGNC:3815 FOXI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3815 UBERON:0005606 hyaloid cavity biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005606 NCBITaxon:9895 Bovidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9895 UBERON:0005614 lens anterior epithelium biolink:AnatomicalEntity mondo A layer of cuboidal epithelial cells bounded anteriorly by the capsule of the lens and posteriorly by the lens cortex. http://purl.obolibrary.org/obo/UBERON_0005614 anterior surface of lens|subcapsular lens epithelium|lens subcapsular epithelium|lens epithelium|anterior epithelium of lens vesicle UBERON:0005613 left dorsal aorta biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005613 UBERON:0005610 iliac vein biolink:AnatomicalEntity mondo Any of the three veins including the common, external and internal iliac veins. http://purl.obolibrary.org/obo/UBERON_0005610 pelvic vein CHEBI:22695 base biolink:ChemicalSubstance mondo A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). http://purl.obolibrary.org/obo/CHEBI_22695 Base|base|bases|Base2|Base1|Basen|Nucleobase CHEBI:22693 barbiturates biolink:ChemicalSubstance mondo Members of the class of pyrimidones consisting of pyrimidine-2,4,6(1H,3H,5H)-trione (barbituric acid) and its derivatives. Largest group of the synthetic sedative/hypnotics, sharing a characteristic six-membered ring structure. http://purl.obolibrary.org/obo/CHEBI_22693 barbituric acids|barbiturates GO:0006417 regulation of translation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. http://purl.obolibrary.org/obo/GO_0006417 regulation of protein biosynthesis|regulation of protein anabolism|regulation of protein synthesis|regulation of protein formation GO:0006414 translational elongation biolink:OntologyClass mondo The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. http://purl.obolibrary.org/obo/GO_0006414 translation elongation|protein synthesis elongation GO:0006415 translational termination biolink:OntologyClass mondo The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). http://purl.obolibrary.org/obo/GO_0006415 translation termination|protein synthesis termination|translational complex disassembly GO:0006412 translation biolink:OntologyClass mondo The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. http://purl.obolibrary.org/obo/GO_0006412 protein anabolism|protein biosynthetic process|protein biosynthesis|protein synthesis|protein formation|protein translation GO:0006413 translational initiation biolink:OntologyClass mondo The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/GO_0006413 translation initiation|biopolymerisation|protein synthesis initiation|biopolymerization HGNC:3823 FOXP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3823 CHEBI:22691 barbiturate anion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_22691 UBERON:0005604 extrahepatic part of hepatic duct biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005604 hepatic duct extrahepatic part|extrahepatic part of the hepatic duct UBERON:0029636 lumbar spinal cord gray matter biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0029636 lumbar spinal cord gray matter UBERON:0005602 dorsal mesogastrium biolink:AnatomicalEntity mondo The portion of mesentery attached to the greater curvature of the stomach is named the dorsal mesentery (or dorsal mesogastrium, when referring to the portion at the stomach), and the part which suspends the colon is termed the mesocolon. The dorsal mesogastrium develops into the greater omentum. http://purl.obolibrary.org/obo/UBERON_0005602 dorsal mesentery UBERON:0017651 salivary gland primordium biolink:AnatomicalEntity mondo A primordium that has the potential to develop into a saliva-secreting gland. http://purl.obolibrary.org/obo/UBERON_0017651 UBERON:0017650 developing mesenchymal structure biolink:AnatomicalEntity mondo A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. http://purl.obolibrary.org/obo/UBERON_0017650 UBERON:0017659 ventral surface of penis biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0017659 urethral surface of penis UBERON:0017654 buccal gland biolink:AnatomicalEntity mondo Any of the small racemose mucous glands in the mucous membrane lining the cheeks http://purl.obolibrary.org/obo/UBERON_0017654 cheek gland UBERON:0005673 left lung endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a left lung. http://purl.obolibrary.org/obo/UBERON_0005673 UBERON:0005672 right lung endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a right lung. http://purl.obolibrary.org/obo/UBERON_0005672 UBERON:0005670 greater omentum mesothelium biolink:AnatomicalEntity mondo A mesothelium that is part of a greater omentum. http://purl.obolibrary.org/obo/UBERON_0005670 UBERON:0005677 caecum mesentery biolink:AnatomicalEntity mondo A mesentery that is part of a caecum. http://purl.obolibrary.org/obo/UBERON_0005677 MONDO:0008807 apnea, central sleep biolink:Disease mondo OMIM:207720|OMIM:107640|UMLS:C0520680 http://identifiers.org/omim/107640|http://identifiers.org/omim/207720|UMLS:C0520680 http://purl.obolibrary.org/obo/MONDO_0008807 sleep apnea, lethal central|apnea, central sleep MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome biolink:Disease mondo GARD:0003051|MESH:C535881|ICD10:Q87.8|Orphanet:1112|UMLS:C1859754|SCTID:733118006|OMIM:207620 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. MESH:C535881|SNOMEDCT:733118006|http://identifiers.org/omim/207620|UMLS:C1859754|ORPHA:1112 http://purl.obolibrary.org/obo/MONDO_0008806 Aphalangy of the hands and feet, hemivertebrae, and visceral malformations|Johnson Munson syndrome|Johnson-Munson syndrome|APHALANGY with hemivertebrae ordo_malformation_syndrome MONDO:0008805 obsolete Takayasu's arteritis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008805 MONDO:0008804 obsolete anus, imperforate biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008804 MONDO:0008803 Antley-Bixler syndrome biolink:Disease mondo ICD10:Q87.0|DOID:0050462|Orphanet:83|GARD:0005826|SCTID:62964007 Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. DOID:0050462|MESH:C537780|http://identifiers.org/omim/207410|ORPHA:83|SNOMEDCT:62964007|UMLS:C0265307 http://purl.obolibrary.org/obo/MONDO_0008803 osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome|trapezoidocephaly synostosis syndrome|multisynostotic osteodysgenesis with long bone fractures|Antley Bixler syndrome|trapezoidocephaly-synostosis syndrome|osteodysgenesis, multisynostotic with fractures gard_rare|ordo_malformation_syndrome MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to biolink:Disease mondo OMIM:207300|MESH:C565947|UMLS:C1859761 MESH:C565947|http://identifiers.org/omim/207300|UMLS:C1859761 http://purl.obolibrary.org/obo/MONDO_0008802 antithrombin, familial hemorrhagic diathesis due to MONDO:0008801 anosmia for isobutyric acid biolink:Disease mondo OMIM:207000 http://identifiers.org/omim/207000 http://purl.obolibrary.org/obo/MONDO_0008801 anosmia for isobutyric acid MONDO:0008800 microphthalmia with limb anomalies biolink:Disease mondo GARD:0000722|Orphanet:1106|OMIM:206920|SCTID:703403003|ICD10:Q87.2|MESH:C537769|ICD9:755.8|DOID:0060861 Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. SNOMEDCT:703403003|DOID:0060861|http://identifiers.org/omim/206920|ORPHA:1106|MESH:C537769 http://purl.obolibrary.org/obo/MONDO_0008800 OAS|microphthalmia with limb anomalies; MLA|microphthalmia with limb anomalies|MLA|anophthalmos-syndactyly|anophthalmos with limb anomalies|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome|anophthalmia-syndactyly|Ophthalmoacromelic syndrome|Waardenburg anophthalmia syndrome|MLA|anophthalmia Waardenburg syndrome ordo_malformation_syndrome UBERON:0017648 ventral body wall biolink:AnatomicalEntity mondo The ventral part of the body wall http://purl.obolibrary.org/obo/UBERON_0017648 anterior body wall UBERON:0017649 dorsal body wall biolink:AnatomicalEntity mondo The dorsal part of the body wall http://purl.obolibrary.org/obo/UBERON_0017649 UBERON:0005662 4th arch ectoderm biolink:AnatomicalEntity mondo An ectoderm that is part of a pharyngeal arch 4. http://purl.obolibrary.org/obo/UBERON_0005662 4th pharyngeal arch ectoderm UBERON:0005661 3rd arch ectoderm biolink:AnatomicalEntity mondo An ectoderm that is part of a pharyngeal arch 3. http://purl.obolibrary.org/obo/UBERON_0005661 3rd pharyngeal arch ectoderm UBERON:0005660 2nd arch ectoderm biolink:AnatomicalEntity mondo An ectoderm that is part of a pharyngeal arch 2. http://purl.obolibrary.org/obo/UBERON_0005660 2nd pharyngeal arch ectoderm UBERON:0005669 peritoneal cavity mesothelium biolink:AnatomicalEntity mondo A mesothelium that is part of a peritoneal cavity. http://purl.obolibrary.org/obo/UBERON_0005669 mesothelium of peritoneum|mesothelium of peritoneal component|peritoneal mesothelium|peritoneum|peritoneum mesothelium CHEBI:46629 oxo group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_46629 =O|oxo|OXO GROUP UBERON:0005667 connecting stalk mesoderm biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005667 UBERON:0005666 4th arch endoderm biolink:AnatomicalEntity mondo An endoderm that is part of a pharyngeal arch 4. http://purl.obolibrary.org/obo/UBERON_0005666 4th pharyngeal arch endoderm UBERON:0005665 3rd arch endoderm biolink:AnatomicalEntity mondo An endoderm that is part of a pharyngeal arch 3. http://purl.obolibrary.org/obo/UBERON_0005665 3rd pharyngeal arch endoderm UBERON:0005664 2nd arch endoderm biolink:AnatomicalEntity mondo An endoderm that is part of a pharyngeal arch 2. http://purl.obolibrary.org/obo/UBERON_0005664 2nd pharyngeal arch endoderm FOODON:03302116 cow milk (liquid) biolink:OntologyClass mondo SUBSET_SIREN:F2116 http://purl.obolibrary.org/obo/FOODON_03302116 cow milk|milk "subset_siren" HGNC:3858 FRA16B biolink:OntologyClass mondo http://identifiers.org/hgnc/3858 UBERON:0017635 paired venous dural sinus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0017635 paired dural venous sinus UBERON:0005658 secondary palatal shelf epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a secondary palatal shelf. http://purl.obolibrary.org/obo/UBERON_0005658 palatal shelf epithelium UBERON:0005656 lens vesicle epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a lens vesicle. http://purl.obolibrary.org/obo/UBERON_0005656 HGNC:3861 FRA16E biolink:OntologyClass mondo http://identifiers.org/hgnc/3861 UBERON:0005652 pedal digit 5 epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a pedal digit 5. http://purl.obolibrary.org/obo/UBERON_0005652 foot digit 5 epithelium|hind limb digit 5 epithelium|pedal digit V epithelium UBERON:0005638 anterior chamber epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a anterior chamber of eyeball. http://purl.obolibrary.org/obo/UBERON_0005638 UBERON:0005648 manual digit 5 epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a manual digit 5. http://purl.obolibrary.org/obo/UBERON_0005648 fore limb digit 5 epithelium|manual digit V epithelium|hand digit 5 epithelium MONDO:0018084 Uhl anomaly biolink:Disease mondo GARD:0005393|MESH:C536932|MedDRA:10048951|Orphanet:3403|ICD10:Q24.8 Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation. ORPHA:3403|MEDDRA:10048951|UMLS:C0265857|MESH:C536932 http://purl.obolibrary.org/obo/MONDO_0018084 Uhl's anomaly|parchment right ventricle ordo_morphological_anomaly MONDO:0018083 transient tyrosinemia of the newborn biolink:Disease mondo ICD10:P74.5|UMLS:CN204402|Orphanet:3402|GARD:0005388 Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. UMLS:CN204402|ORPHA:3402 http://purl.obolibrary.org/obo/MONDO_0018083 tyrosine-oxidase temporary deficiency|transient tyrosinemia of the neonate|transient neonatal tyrosinemia ordo_disease MONDO:0018086 ulerythema ophryogenesis biolink:Disease mondo GARD:0005395|Orphanet:3406 Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection. ORPHA:3406 http://purl.obolibrary.org/obo/MONDO_0018086 keratosis pilaris affecting the follicles of the eyebrow hairs|type of genodermatosis gard_rare|ordo_disease MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome biolink:Disease mondo MESH:C536938|Orphanet:3405|UMLS:C2931371|GARD:0005403 Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage. UMLS:C2931371|ORPHA:3405|MESH:C536938 http://purl.obolibrary.org/obo/MONDO_0018085 umbilical cord ulcer with intestinal atresia|umbilical ulceration and intestinal atresia|umbilical cord ulceration and intestinal atresia ordo_malformation_syndrome MONDO:0018080 obsolete rare germ cell tumor biolink:Disease mondo SCTID:402878003|Orphanet:3399 Rare germ cell tumor. ORPHA:3399|SNOMEDCT:402878003 http://purl.obolibrary.org/obo/MONDO_0018080 rare germ cell tumor|germ cell tumor obsoletion_candidate|ordo_group_of_disorders MONDO:0018082 aorto-ventricular tunnel (disease) biolink:Disease mondo HP:0011627|UMLS:CN225932|ICD10:Q20.8|Orphanet:3400 Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. ORPHA:3400|UMLS:CN225932 http://purl.obolibrary.org/obo/MONDO_0018082 aorto-ventricular tunnel ordo_morphological_anomaly MONDO:0018081 hemorrhagic fever-renal syndrome biolink:Disease mondo Orphanet:340|ICD10:A98.5+|ICD10:N08.0*|MedDRA:10023484|UMLS:CN204401|MESH:C535630|UMLS:C2930957 Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. UMLS:CN204401|UMLS:C2930957|MEDDRA:10023484|ORPHA:340|UMLS:C0019101|MESH:C535630|MESH:D006480 http://purl.obolibrary.org/obo/MONDO_0018081 Hantavirus fever|Hantavirosis ordo_disease GO:0043576 regulation of respiratory gaseous exchange biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment. http://purl.obolibrary.org/obo/GO_0043576 MONDO:0006099 obsolete B-cell prolymphocytic leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006099 MONDO:0006097 atypical lipomatous tumor biolink:Disease mondo NCIT:C6505|ICDO:8850/1|DOID:5690|EFO:1000099 An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes. NCIT:C6505|DOID:5690 http://purl.obolibrary.org/obo/MONDO_0006097 well differentiated liposarcoma of superficial soft tissue|Atypical lipoma|liposarcoma, well differentiated (morphologic abnormality)|well differentiated liposarcoma|lipoma-like liposarcoma|superficial well differentiated liposarcoma|ALT MONDO:0006098 atypical lobular breast hyperplasia biolink:Disease mondo SCTID:450697004|NCIT:C4730|EFO:1000100|ICD9:610.8 Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast. SNOMEDCT:450697004|NCIT:C4730 http://purl.obolibrary.org/obo/MONDO_0006098 atypical lobular hyperplasia of breast|atypical lobular hyperplasia of the breast|atypical lobular breast hyperplasia|atypical lobular hyperplasia|ALH|atypical breast lobular hyperplasia MONDO:0006095 atypical carcinoid tumor biolink:Disease mondo NCIT:C72074|COHD:40482859|SCTID:445238008|UMLS:C1266032|UMLS:C0391970|EFO:1000097 A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism. NCIT:C72074|UMLS:C1266032|UMLS:C0391970|SNOMEDCT:445238008 http://purl.obolibrary.org/obo/MONDO_0006095 atypical carcinoid tumor|malignant carcinoid tumor MONDO:0006096 atypical endometrial hyperplasia biolink:Disease mondo NCIT:C4654|UMLS:C0349579|COHD:195316|SCTID:277158007|ICD9:621.33|EFO:1000098 An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear. UMLS:C0349579|NCIT:C4654|SNOMEDCT:277158007 http://purl.obolibrary.org/obo/MONDO_0006096 atypical hyperplasia of the endometrium|atypical hyperplasia of endometrium|endometrial hyperplasia with atypia MONDO:0006093 ascending colon neuroendocrine tumor G1 biolink:Disease mondo EFO:1000094|UMLS:C1332340|NCIT:C6427 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. NCIT:C6427|UMLS:C1332340 http://purl.obolibrary.org/obo/MONDO_0006093 ascending colon carcinoid tumor|ascending colon carcinoid tumor|ascending colon neuroendocrine tumor G1|ascending colon carcinoid tumor (disease)|ascending colon neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of ascending colon|ascending colon NET G1|carcinoid tumor of the ascending colon|carcinoid tumor of ascending colon|ascending colon neuroendocrine neoplasm G1 MONDO:0006094 Askin tumor biolink:Disease mondo EFO:1000095|DOID:0050608|UMLS:C0877849|NCIT:C7542|ICDO:9365/3 A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma. UMLS:C0877849|DOID:0050608|NCIT:C7542 http://purl.obolibrary.org/obo/MONDO_0006094 Askin tumor|peripheral neuroectodermal tumor of thoracopulmonary region|small cell tumor of thoracopulmonary region|Askin's tumor|PNET of thoracopulmonary region MONDO:0006091 appendix neuroendocrine tumor G1 biolink:Disease mondo EFO:1000092|DOID:0050911|ICDO:8240/1|UMLS:C0334298|NCIT:C4138|SCTID:253002004|ICD9:209.11|COHD:437238 A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. NCIT:C4138|UMLS:C0334298|SNOMEDCT:253002004|DOID:0050911 http://purl.obolibrary.org/obo/MONDO_0006091 appendix carcinoid tumor|vermiform appendix carcinoid tumor|appendiceal carcinoid tumor|appendix carcinoid endocrine tumour|vermiform appendix neuroendocrine tumor, well differentiated, low grade|appendix NET G1 (carcinoid)|vermiform appendix carcinoid tumor (disease)|appendix neuroendocrine tumor G1 (carcinoid)|grade 1 neuroendocrine neoplasm of vermiform appendix|vermiform appendix carcinoid tumor|vermiform appendix neuroendocrine neoplasm G1|carcinoid tumor of appendix|carcinoid tumor of the appendix|vermiform appendix NET G1|appendix NET G1 PATO:0001332 amorphous biolink:OntologyClass mondo A morphology quality inhering in a bearer by virtue of the bearer's lack of distinct morphology. http://purl.obolibrary.org/obo/PATO_0001332 MONDO:0006092 appendix villous adenoma biolink:Disease mondo EFO:1000093|UMLS:C1332329|NCIT:C5512 An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia. NCIT:C5512|UMLS:C1332329 http://purl.obolibrary.org/obo/MONDO_0006092 vermiform appendix villous adenoma|villous adenoma of appendix|villous adenoma of the appendix|appendix villous adenoma MONDO:0006090 appendix hyperplastic polyp biolink:Disease mondo NCIT:C96416|UMLS:C3272761|EFO:1000091 A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia. NCIT:C96416|UMLS:C3272761 http://purl.obolibrary.org/obo/MONDO_0006090 appendix metaplastic polyp|vermiform appendix hyperplastic polyp MONDO:0018088 familial Mediterranean fever biolink:Disease mondo NCIT:C84707|UMLS:C0031069|GARD:0006421|MESH:D010505|COHD:193445|MedDRA:10016207|ICD10:E85.0|DOID:2987|Orphanet:342|SCTID:12579009|ICD9:277.31 Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. MESH:D010505|SNOMEDCT:12579009|DOID:2987|NCIT:C84707|UMLS:C0585274|UMLS:C0031069|ORPHA:342|MEDDRA:10016207 http://purl.obolibrary.org/obo/MONDO_0018088 benign paroxysmal peritonitis|benign recurrent polyserositis|periodic disease|FMF|familial paroxysmal polyserositis ordo_disease MONDO:0018087 viral hemorrhagic fever biolink:Disease mondo COHD:4347554|MESH:D006482|NCIT:C36170|UMLS:CN204409|Orphanet:341|UMLS:C0019104|GARD:0005494|SCTID:240523007 Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever). MESH:D006482|UMLS:CN204409|NCIT:C36170|ORPHA:341|SNOMEDCT:240523007|UMLS:C0019104 http://purl.obolibrary.org/obo/MONDO_0018087 hemorrhagic fevers|VHFs|viral haemorrhagic fever|haemorrhagic fevers, viral|haemorrhagic fever|hemorrhagic fever|VHF gard_rare|ordo_group_of_disorders MONDO:0018089 double outlet right ventricle biolink:Disease mondo SCTID:204299009|GARD:0001908|ICD10:Q20.1|UMLS:C0013069|MESH:D004310|NCIT:C98916|MedDRA:10013611|DOID:6406|Orphanet:3426|COHD:313867 Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle. NCIT:C98916|SNOMEDCT:204299009|MESH:D004310|MEDDRA:10013611|ORPHA:3426|DOID:6406|UMLS:C0013069 http://purl.obolibrary.org/obo/MONDO_0018089 double outlet right ventricle with subpulmonary ventricular septal defect|Dextrotransposition of aorta|double outlet right ventricle|DORV|Taussig-Bing syndrome or defect ordo_morphological_anomaly|gard_rare MONDO:0018073 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018073 MONDO:0018072 persistent truncus arteriosus (disease) biolink:Disease mondo Orphanet:3384|GARD:0007375|ICD10:Q20.0|NCIT:C98880|COHD:441950 A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. NCIT:C98880|ORPHA:3384 http://purl.obolibrary.org/obo/MONDO_0018072 truncus arteriosus|common aorticopulmonary trunk|persistent truncus arteriosus|common truncus arteriosus|common arterial trunk|TAC ordo_morphological_anomaly MONDO:0018075 neural tube defect biolink:Disease mondo Orphanet:3388|DOID:0080074|SCTID:253098009|ICD9:742.8|MESH:D009436|NCIT:C84923 A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. NCIT:C84923|ORPHA:3388|DOID:0080074|MESH:D009436|SNOMEDCT:253098009 http://purl.obolibrary.org/obo/MONDO_0018075 spinal dysraphism|NTD ordo_group_of_disorders MONDO:0018074 obsolete American trypanosomiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018074 MONDO:0018071 trisomy 18 biolink:Disease mondo ICD9:758.2|DOID:1085|NCIT:C36626|MedDRA:10053884|MESH:C580500|Orphanet:3380|ICD10:Q91.2|UMLS:C0152096|ICD10:Q91.1|ICD10:Q91.3|ICD10:Q91.0|SCTID:51500006|GARD:0006321 Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. DOID:1085|MESH:C580500|SNOMEDCT:51500006|UMLS:C0152096|ORPHA:3380|NCIT:C36626|MEDDRA:10053884 http://purl.obolibrary.org/obo/MONDO_0018071 trisomy type 18|trisomy E (formerly)|18 trisomy|complete trisomy 18 syndrome|trisomy 18|chromosome 18 duplication|Edwards syndrome|chromosome 18 trisomy|trisomy 16-18 (formerly)|E3 trisomy ordo_malformation_syndrome MONDO:0018070 familial multiple fibrofolliculoma biolink:Disease mondo UMLS:C4509837|GARD:0003831|Orphanet:338|SCTID:723361006|UMLS:CN204388 Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far. SNOMEDCT:723361006|UMLS:C4509837|UMLS:CN204388|ORPHA:338 http://purl.obolibrary.org/obo/MONDO_0018070 multiple fibrofolliculoma familial ordo_disease|gard_rare GO:0043588 skin development biolink:OntologyClass mondo The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. http://purl.obolibrary.org/obo/GO_0043588 animal skin development MONDO:0018077 tularemia biolink:Disease mondo MESH:D014406|ICD9:021.9|NCIT:C85208|DOID:2123|SCTID:19265001|GARD:0000396|ICD9:021.8|ICD10:A21.3|ICD10:A21.2|ICD10:A21.1|ICD10:A21|ICD10:A21.0|Orphanet:3392|MedDRA:10045146|UMLS:C0041351|ICD10:A21.9|EFO:1001444|ICD10:A21.8|ICD10:A21.7 Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics. DOID:2123|MEDDRA:10045146|NCIT:C85208|ORPHA:3392|MESH:D014406|SNOMEDCT:19265001|UMLS:C0041351 http://purl.obolibrary.org/obo/MONDO_0018077 Ohara disease|Francisella tularensis infectious disease|Yatobyo (Japan)|Francisella tularensis caused disease or disorder|rabbit fever|lemming fever|Pahvant Valley plague|Francisella tularensis infection|Deerfly fever|Francisella tularensis disease or disorder ordo_disease|gard_rare MONDO:0018076 tuberculosis biolink:Disease mondo COHD:434557|Orphanet:3389|UMLS:C0041296|ICD9:017.96|MedDRA:10044755|SCTID:56717001|DOID:399|ICD9:017.94|ICD10:A15.A19|UMLS:C0151332|ICD9:017.92|NCIT:C3423|ICD9:017.90|GARD:0007827|MESH:D014376 A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. MEDDRA:10044755|NCIT:C3423|ORPHA:3389|MESH:D014376|UMLS:C0151332|DOID:399|UMLS:C0041296|SNOMEDCT:56717001 http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis disease|active tuberculosis|Kochs disease|TB gard_rare|ordo_disease MONDO:0018079 thymic epithelial neoplasm biolink:Disease mondo ICD10:D15.0|NCIT:C6450|Orphanet:3398|ONCOTREE:TET|MESH:C536905|GARD:0005201|UMLS:C1266101|ICD10:C37 An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. MESH:C536905|NCIT:C6450|ORPHA:3398|UMLS:C1266101 http://purl.obolibrary.org/obo/MONDO_0018079 Tet|epithelial neoplasm of Thymus|epithelial neoplasm of the Thymus|epithelial tumor of Thymus|TEN|thymoma, adult|epithelial tumor of the Thymus|thymus epithelial neoplasm|Thymus epithelial tumor|thymic epithelial tumor|Thymus epithelial neoplasm|thymic epithelium neoplasm ordo_group_of_disorders MONDO:0018078 soft tissue sarcoma biolink:Disease mondo GARD:0004898|UMLS:CN204398|EFO:1001968|Orphanet:3394|NCIT:C9306|SCTID:424952003 A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. UMLS:CN204398|SNOMEDCT:424952003|ORPHA:3394|NCIT:C9306 http://purl.obolibrary.org/obo/MONDO_0018078 non-rhabdomyosarcoma soft tissue sarcoma, NOS|malignant soft tissue tumor|malignant mesenchymal tumor|soft tissue sarcoma|sarcoma of the soft tissue|sarcoma of soft tissue|non-Rhabdo. soft tissue sarcoma|connective tissue sarcoma|soft part sarcoma ordo_group_of_disorders|gard_rare MONDO:0018062 autosomal dominant trichoodontoonychodysplasia-syndactyly biolink:Disease mondo MESH:C536565|GARD:0005376|Orphanet:3357|UMLS:C2931239 UMLS:C2931239|ORPHA:3357|MESH:C536565 http://purl.obolibrary.org/obo/MONDO_0018062 Trueb Burg Bottani syndrome|Tricho-odonto-onychodysplasia with syndactyly|Trueb-Burg-Bottani syndrome|ectodermal dysplasia with corkscrew hairs ordo_malformation_syndrome MONDO:0018061 trichodermodysplasia-dental alterations syndrome biolink:Disease mondo MESH:C537402|UMLS:C2931485|Orphanet:3353|GARD:0004369 Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. UMLS:C2931485|ORPHA:3353|MESH:C537402 http://purl.obolibrary.org/obo/MONDO_0018061 Trichodermodysplasia with dental alterations|Pinheiro Freire-Maia Miranda syndrome|Pinheiro-Freire Maia-Miranda syndrome ordo_malformation_syndrome MONDO:0018064 trigonocephaly-broad thumbs syndrome biolink:Disease mondo Orphanet:3365|ICD10:Q87.0|GARD:0002756|SCTID:719949001 Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. SNOMEDCT:719949001|ORPHA:3365 http://purl.obolibrary.org/obo/MONDO_0018064 Hunter Rudd Hoffmann syndrome|Hunter-Rudd-Hoffmann syndrome ordo_malformation_syndrome MONDO:0018063 nodular non-suppurative panniculitis biolink:Disease mondo DOID:1525|Orphanet:33577|UMLS:C0030328|SCTID:33760009|GARD:0007879|EFO:1000742|ICD10:M35.6|MESH:D010201|MedDRA:10047883 Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat. MEDDRA:10047883|MESH:D010201|DOID:1525|SNOMEDCT:33760009|ORPHA:33577|UMLS:C0030328 http://purl.obolibrary.org/obo/MONDO_0018063 panniculitis nodular nonsuppurative|Weber Christian disease|idiopathic nodular panniculitis|Weber-Christian panniculitis|Weber - Christian disease|Pfeiffer-Weber-Christian syndrome|nodular non-suppurative febrile panniculitis|Weber-Christian disease|WCD|Relapsing febrile nodular nonsuppurative panniculitis|Relapsing febrile nodular panniculitis|idiopathic lobular panniculitis|nodular nonsuppurative panniculitis ordo_disease MONDO:0018060 congenital fibrinogen deficiency biolink:Disease mondo Orphanet:335|GARD:0002320|ICD10:D68.2 Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). ORPHA:335 http://purl.obolibrary.org/obo/MONDO_0018060 fibrinogen deficiency, congenital ordo_disease|gard_rare MONDO:0043069 Zerres Rietschel Majewski syndrome biolink:Disease mondo GARD:0000338|MESH:C536724|UMLS:C2931301 MESH:C536724|UMLS:C2931301 http://purl.obolibrary.org/obo/MONDO_0043069 postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability|postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation gard_rare MONDO:0006079 ameloblastic carcinoma biolink:Disease mondo ICD10:C41.1|EFO:1000078|NCIT:C7492|Orphanet:314422|UMLS:C1314678|GARD:0011855 A rare, cytologically malignant ameloblastoma that may metastasize. UMLS:C1314678|ORPHA:314422|NCIT:C7492 http://purl.obolibrary.org/obo/MONDO_0006079 odontoma, ameloblastic, malignant|ameloblastic carcinoma gard_rare|ordo_disease MONDO:0006077 adrenal medullary hyperplasia biolink:Disease mondo NCIT:C35838|EFO:1000076 A hyperplasia that involves the adrenal medulla. NCIT:C35838 http://purl.obolibrary.org/obo/MONDO_0006077 adrenal medulla hyperplasia MONDO:0006078 AIDS-related primary central nervous system lymphoma biolink:Disease mondo EFO:1000077|NCIT:C8284|UMLS:C0281241 A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients. NCIT:C8284|UMLS:C0281241 http://purl.obolibrary.org/obo/MONDO_0006078 AIDS-related primary CNS lymphoma|AIDS related lymphoma of primary central nervous system|AIDS related primary central nervous system lymphoma|AIDS related lymphoma of the primary central nervous system|AIDS-related lymphoma of primary central nervous system|AIDS-related lymphoma of the primary central nervous system|AIDS related primary CNS lymphoma MONDO:0006075 adrenal gland myelolipoma biolink:Disease mondo NCIT:C3736|EFO:1000074|SCTID:719049003|MESH:D018209|UMLS:C0206635|ICDO:8870/0 A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues. UMLS:C0206635|MESH:D018209|SNOMEDCT:719049003|NCIT:C3736 http://purl.obolibrary.org/obo/MONDO_0006075 Myelolipoma|MYELOLIPOMA, benign|adrenal gland myelolipoma MONDO:0006076 adrenal gland neuroblastoma biolink:Disease mondo UMLS:C0559460|EFO:1000075|SCTID:281562007|NCIT:C4827|DOID:5718 A neuroblastoma arising from the adrenal gland. DOID:5718|UMLS:C0559460|SNOMEDCT:281562007|NCIT:C4827 http://purl.obolibrary.org/obo/MONDO_0006076 neuroblastoma of adrenal gland|adrenal neuroblastoma|neuroblastoma of the adrenal gland|neuroblastoma of the adrenal|neuroblastoma of adrenal|adrenal gland neuroblastoma MONDO:0006073 adenomatoid odontogenic tumor biolink:Disease mondo MESH:C538229|ICDO:9300/0|EFO:1000072|NCIT:C4310 A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare. NCIT:C4310|MESH:C538229 http://purl.obolibrary.org/obo/MONDO_0006073 adenomatoid odontogenic neoplasm MONDO:0006074 adenosquamous carcinoma biolink:Disease mondo ICDO:8560/3|DOID:4830|MESH:D018196|EFO:1000073|SCTID:403902008|NCIT:C3727|UMLS:C0206623 A carcinoma composed of malignant glandular cells and malignant squamous cells. UMLS:C0206623|DOID:4830|MESH:D018196|SNOMEDCT:403902008|NCIT:C3727 http://purl.obolibrary.org/obo/MONDO_0006074 mixed adenocarcinoma and squamous carcinoma|mixed adenocarcinoma and squamous cell carcinoma|adenosquamous carcinoma (morphologic abnormality)|adenosquamous carcinoma|mixed adenocarcinoma and epidermoid cell carcinoma|mixed adenocarcinoma and epidermoid carcinoma|carcinoma, adenosquamous, malignant|adenosquamous cell carcinoma MONDO:0006071 adenofibroma biolink:Disease mondo DOID:2683|ICDO:9013/0|EFO:1000070|MESH:D000232|UMLS:C0001422|NCIT:C8984 A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported. NCIT:C8984|DOID:2683|UMLS:C0001422|MESH:D000232 http://purl.obolibrary.org/obo/MONDO_0006071 adenofibroma, no ICD-O subtype (morphologic abnormality)|female reproductive system adenofibroma|adenofibroma, no ICD-O subtype|benign mixed Muellerian tumor|adenofibroma, benign MONDO:0006072 obsolete adenoid cystic breast carcinoma biolink:Disease mondo An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. http://purl.obolibrary.org/obo/MONDO_0006072 MONDO:0006070 obsolete acute leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006070 MONDO:0018069 distal trisomy 17q biolink:Disease mondo ICD10:Q92.3|Orphanet:3379|SCTID:766051001 Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. MESH:C536579|SNOMEDCT:766051001|UMLS:C2931247|ORPHA:3379 http://purl.obolibrary.org/obo/MONDO_0018069 trisomy 17qter|distal duplication 17q|telomeric duplication 17q|distal trisomy type 17q ordo_malformation_syndrome MONDO:0018066 trisomy X biolink:Disease mondo SCTID:35111009|ICD10:Q97.0|UMLS:C0221033|NCIT:C129718|Orphanet:3375|GARD:0005672|MESH:C535318 Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). NCIT:C129718|UMLS:C0221033|MESH:C535318|ORPHA:3375|MESH:D014314|SNOMEDCT:35111009 http://purl.obolibrary.org/obo/MONDO_0018066 Triplo X syndrome|Triplo-X syndrome|trisomy X|47 XXX syndrome|47,XXX syndrome|trisomy type X|triple X syndrome|triple-X female|47,XXX|triple-X chromosome syndrome|XXX syndrome ordo_malformation_syndrome|gard_rare HGNC:31399 SLC6A17 biolink:OntologyClass mondo http://identifiers.org/hgnc/31399 MONDO:0018065 isolated trigonocephaly biolink:Disease mondo Orphanet:3366|UMLS:CN236409|OMIMPS:190440|ICD10:Q75.0|UMLS:CN239481 Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. UMLS:CN236409|ORPHA:3366|UMLS:CN239481 http://purl.obolibrary.org/obo/MONDO_0018065 nonsyndromic trigonocephaly|non-syndromic metopic craniosynostosis ordo_morphological_anomaly MONDO:0018068 trisomy 13 biolink:Disease mondo MESH:C536305|Orphanet:3378|ICD10:Q91.6|ICD10:Q91.7|ICD10:Q91.5|ICD10:Q91.4|DOID:11665|UMLS:CN204386|GARD:0007341|SCTID:21111006|UMLS:C0152095|MedDRA:10044686|ICD9:758.1|NCIT:C101223|NCIT:C36529 Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. UMLS:C2936830|MESH:C536305|NCIT:C101223|SNOMEDCT:21111006|DOID:11665|MEDDRA:10044686|UMLS:CN204386|UMLS:C0152095|ORPHA:3378|NCIT:C36529 http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13|chromosome 13, trisomy 13 complete|trisomy type 13|Patau's syndrome|D1 trisomy|D trisomy syndrome (formerly)|Patau syndrome|complete trisomy 13 syndrome ordo_malformation_syndrome MONDO:0018067 triploidy biolink:Disease mondo Orphanet:3376|NCIT:C85204|ICD9:758.89|MESH:D057885|ICD10:Q92.7|SCTID:66651005|GARD:0005295|UMLS:C0333693 Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person. NCIT:C85204|ORPHA:3376|UMLS:C0333693|SNOMEDCT:66651005|MESH:D057885 http://purl.obolibrary.org/obo/MONDO_0018067 triploid syndrome|triploidy syndrome|chromosome triploidy syndrome ordo_malformation_syndrome|gard_rare MONDO:0018051 Jessner lymphocytic infiltration of the skin biolink:Disease mondo ICD10:L98.6|Orphanet:33314|UMLS:C0580181|GARD:0006940 Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck. UMLS:C0580181|ORPHA:33314 http://purl.obolibrary.org/obo/MONDO_0018051 Jessner-Kanof syndrome|benign chronic T-cell infiltrative disorder|benign lymphocytic infiltration|Jessner disease|lymphocytic infiltrate of Jessner|Jessner-Kanof lymphocytic infiltration of the skin ordo_disease|gard_rare MONDO:0043073 Zadik-Barak-Levin syndrome biolink:Disease mondo UMLS:C2931298|MESH:C536721|GARD:0000340 MESH:C536721|UMLS:C2931298 http://purl.obolibrary.org/obo/MONDO_0043073 dermoid cysts, hypothyroidism, cleft palate and hypodontia|dermoid cysts, hypothyroidism, cleft palate, and hypodontia gard_rare MONDO:0018050 tibial aplasia-ectrodactyly syndrome biolink:Disease mondo Orphanet:3329|ICD10:Q73.8|GARD:0001369 Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. ORPHA:3329 http://purl.obolibrary.org/obo/MONDO_0018050 SHFM associated with aplasia of long bones|split-hand/foot malformation with long bone deficiency|TH-SHFM|tibial hemimelia with split hand/foot malformation|aplasia of tibia with ectrodactyly|SHFLD|tibial aplasia with split-hand/split-foot deformity|split hand/foot malformation with long bone deficiency|ectrodactyly with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|split-hand/foot malformation associated with aplasia of long bones|aplasia of tibia with split-hand/split-foot deformity|SHFLD syndrome ordo_malformation_syndrome|gard_rare MONDO:0018053 trichothiodystrophy biolink:Disease mondo ICD10:L67.8|OMIMPS:601675|MedDRA:10044628|GARD:0012109|NCIT:C4924|SCTID:723551003|Orphanet:33364|UMLS:C1955934 Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). MESH:D054463|MESH:C536559|MEDDRA:10044628|UMLS:C1955934|NCIT:C4924|ORPHA:33364|SNOMEDCT:723551003|UMLS:C0740342 http://purl.obolibrary.org/obo/MONDO_0018053 trichothiodystrophy syndrome ordo_disease MONDO:0043075 neuroaxonal dystrophy renal tubular acidosis biolink:Disease mondo UMLS:C2931479|MESH:C537386|GARD:0000349 MESH:C537386|UMLS:C2931479 http://purl.obolibrary.org/obo/MONDO_0043075 CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr|Maccario Mena weir syndrome gard_rare MONDO:0018052 hypoplastic tibiae-postaxial polydactyly syndrome biolink:Disease mondo SCTID:716741008|ICD10:Q74.8|Orphanet:3332|UMLS:CN204341 Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands. SNOMEDCT:716741008|UMLS:CN204341|ORPHA:3332 http://purl.obolibrary.org/obo/MONDO_0018052 Werner mesomelic syndrome ordo_malformation_syndrome MONDO:0043071 Zazam Sheriff Phillips syndrome biolink:Disease mondo MESH:C536723|UMLS:C2931300|GARD:0000339 MESH:C536723|UMLS:C2931300 http://purl.obolibrary.org/obo/MONDO_0043071 aniridia, lens luxation, mental retardation|aniridia, lens luxation, intellectual disability|aniridia, ectopia lentis, abnormal upper incisors and mental retardation|aniridia, ectopia lentis, abnormal upper incisors and intellectual disability gard_rare MONDO:0006088 appendix adenoma biolink:Disease mondo UMLS:C1706829|NCIT:C43550|EFO:1000089 A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. UMLS:C1706829|NCIT:C43550 http://purl.obolibrary.org/obo/MONDO_0006088 appendix adenoma|vermiform appendix adenoma MONDO:0043077 weinstein kliman scully syndrome biolink:Disease mondo UMLS:C2931289|MESH:C536688|GARD:0000392 MESH:C536688|UMLS:C2931289 http://purl.obolibrary.org/obo/MONDO_0043077 primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities|cardiomyopathy, hypogonadism and metabolic anomalies gard_rare MONDO:0006089 appendix goblet cell carcinoid biolink:Disease mondo ONCOTREE:GCCAP|ICDO:8243/3|EFO:1000090|NCIT:C3689 An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine. NCIT:C3689 http://purl.obolibrary.org/obo/MONDO_0006089 appendix adenocarcinoid tumor|goblet cell carcinoid tumor|goblet cell carcinoid of appendix|goblet cell carcinoid of the appendix|mucinous carcinoid tumor|appendix goblet cell carcinoid tumor|appendix mixed carcinoid-adenocarcinoma MONDO:0006086 angiomyxoma biolink:Disease mondo ICDO:8841/1|ICDO:8841/0|EFO:1000087|MESH:D009232|NCIT:C3254|SCTID:404083008|UMLS:C0027149|ICD9:215.9 A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma. SNOMEDCT:404083008|NCIT:C3254|UMLS:C0027149|MESH:D009232 http://purl.obolibrary.org/obo/MONDO_0006086 MONDO:0043079 acute articular rheumatism biolink:Disease mondo GARD:0000518|SCTID:81077008 SNOMEDCT:81077008 http://purl.obolibrary.org/obo/MONDO_0043079 acute rheumatism|acute articular rheumatism|acute rheumatic arthritis gard_rare MONDO:0006087 appendix adenocarcinoma biolink:Disease mondo EFO:1000088|ONCOTREE:APAD|DOID:3608|NCIT:C7718|UMLS:C0238003|SCTID:413445002|GARD:0010564 A carcinoma that arises from glandular epithelial cells of the vermiform appendix. DOID:3608|NCIT:C7718|SNOMEDCT:413445002|UMLS:C0238003 http://purl.obolibrary.org/obo/MONDO_0006087 adenocarcinoma of the appendix|appendiceal adenocarcinoma|vermiform appendix adenocarcinoma|APAD|adenocarcinoma of appendix|appendix adenocarcinoma MONDO:0006084 obsolete angioleiomyoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006084 MONDO:0006085 angiolipoma biolink:Disease mondo MESH:D018206|EFO:1000085|UMLS:C0206632|ICDO:8861/0|DOID:3616|SCTID:404057003|NCIT:C3733 A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms. UMLS:C0206632|DOID:3616|MESH:D018206|NCIT:C3733|SNOMEDCT:404057003 http://purl.obolibrary.org/obo/MONDO_0006085 angiolipoma, benign CHEBI:4469 (S)-amphetamine biolink:ChemicalSubstance mondo A 1-phenylpropan-2-amine that has S configuration. http://purl.obolibrary.org/obo/CHEBI_4469 (2S)-1-phenylpropan-2-amine|(+)-alpha-methylphenethylamine|(S)-alpha-methylbenzeneethanamine|(alphaS)-alpha-methylbenzeneethanamine|(+)-(S)-amphetamine|(S)-(+)-amphetamine|dexamphetamine|(+)-amphetamine|d-amphetamine|(S)-amphetamine|Dextroamphetamine|(S)-1-phenyl-2-propylamine|(S)-(+)-beta-phenylisopropylamine|(+)-alpha-methylphenylethylamine|(S)-1-phenyl-2-aminopropane MONDO:0006082 anal squamous cell carcinoma biolink:Disease mondo NCIT:C9161|EFO:1000081|ONCOTREE:ANSC|UMLS:C1412036|DOID:5525 A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC. UMLS:C1412036|NCIT:C9161|DOID:5525 http://purl.obolibrary.org/obo/MONDO_0006082 epidermoid anal carcinoma|squamous cell carcinoma - anus|epidermoid carcinoma of anus|epidermoid carcinoma of the anus|anus squamous cell carcinoma|anal squamous cell cancer|squamous cell anal carcinoma|anal squamous cell carcinoma|squamous cell carcinoma of anus|ANSC|squamous cell carcinoma of the anus MONDO:0006083 obsolete anaplastic large cell lymphoma, ALK-negative biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006083 MONDO:0006080 obsolete ampulla of vater carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006080 MONDO:0006081 anal melanoma biolink:Disease mondo ONCOTREE:ARMM|EFO:1000080|SCTID:276821000|DOID:14145|UMLS:C0349538|NCIT:C4639 A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor. UMLS:C0349538|NCIT:C4639|SNOMEDCT:276821000|DOID:14145 http://purl.obolibrary.org/obo/MONDO_0006081 anal malignant melanoma|malignant anus melanoma|melanoma (disease) of anus|malignant melanoma of anus|melanoma of anus|malignant melanoma of the anus|anus melanoma|melanoma of the anus|anus melanoma (disease)|anal melanoma MONDO:0018059 meningococcal meningitis biolink:Disease mondo MedDRA:10027249|ICD10:A39.0+|ICD10:G01*|ICD9:036.0|MedDRA:10027276|UMLS:C0025294|DOID:0080176|MESH:D008585|COHD:438338|EFO:1001040|Orphanet:33475|SCTID:192644005|ICD10:A39.0 An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability. SNOMEDCT:192644005|DOID:0080176|UMLS:C0025294|MESH:D008585|MEDDRA:10027249|ORPHA:33475 http://purl.obolibrary.org/obo/MONDO_0018059 ordo_disease MONDO:0018058 tracheal agenesis biolink:Disease mondo SCTID:3987009|NCIT:C35376|Orphanet:3346|GARD:0005233|UMLS:C1261567|ICD10:Q32.1|MESH:C536975 Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking. NCIT:C35376|MESH:C536975|SNOMEDCT:3987009|UMLS:C1261567|ORPHA:3346 http://purl.obolibrary.org/obo/MONDO_0018058 congenital tracheal agenesis|tracheal absence|congenital absence of trachea ordo_morphological_anomaly|gard_rare MONDO:0018055 pediatric hepatocellular carcinoma biolink:Disease mondo DOID:0070322|ICD10:C22.0|Orphanet:33402|NCIT:C7955|GARD:0009331|ORDO:33402|UMLS:CN204349 Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age. NCIT:C7955|UMLS:CN204349|DOID:0070322|ORPHA:33402 http://purl.obolibrary.org/obo/MONDO_0018055 pediatric hepatoma|childhood carcinoma of the liver cell|childhood carcinoma of liver cell|pediatric liver cell carcinoma|childhood hepatocellular carcinoma|Pediatric carcinoma of the liver cell|childhood hepatoma|pediatric carcinoma of liver cell|childhood liver cell carcinoma|pediatric HCC|childhood hepatocellular carcinoma|childhood-onset HCC|hepatocellular cancer|childhood-onset hepatocellular carcinoma ordo_clinical_subtype MONDO:0018054 familial atrial fibrillation biolink:Disease mondo UMLS:CN204347|ICD10:I48.9|Orphanet:334|DOID:0050650|GARD:0009740|OMIMPS:608583|SCTID:715395008 An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. ORPHA:334|DOID:0050650|UMLS:CN204347|SNOMEDCT:715395008 http://purl.obolibrary.org/obo/MONDO_0018054 autosomal dominant atrial fibrillation|ATFB|atrial fibrillation autosomal dominant|hereditary atrial fibrillation (disease)|atrial fibrillation, familial ordo_disease MONDO:0018057 obsolete toxocariasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018057 MONDO:0018056 bullous lichen planus biolink:Disease mondo UMLS:C0023648|SCTID:6111009|ICD10:L43.1|NCIT:C34778|MedDRA:10056960|Orphanet:33408 Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions. SNOMEDCT:6111009|NCIT:C34778|UMLS:C0023648|MEDDRA:10056960|ORPHA:33408 http://purl.obolibrary.org/obo/MONDO_0018056 ordo_disease HGNC:18391 SCGB3A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18391 GO:0006586 indolalkylamine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group. http://purl.obolibrary.org/obo/GO_0006586 indolamine metabolism|indolamine metabolic process|indolalkylamine metabolism MONDO:0043004 Weil's disease biolink:Disease mondo SCTID:398067003|MESH:D014895 A jauncice caused by severe leptospirosis. SNOMEDCT:398067003|MESH:D014895 http://purl.obolibrary.org/obo/MONDO_0043004 leptospirosis, icterohemorrhagic|Icterohemorrhagic leptospirosis|weil's disease|Weil disease|disease, Weil|spirochetal jaundice|Weils disease|Weil's disease|icteric leptospirosis|jaundice, spirochetal|disease, Weil's MONDO:0043003 familial acanthosis nigricans biolink:Disease mondo UMLS:C2930792|OMIM:100600|MESH:C531598 An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome. MESH:C531598|UMLS:C2930792|http://identifiers.org/omim/100600 http://purl.obolibrary.org/obo/MONDO_0043003 acanthosis nigricans|hereditary acanthosis nigricans (disease) GO:0006584 catecholamine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. http://purl.obolibrary.org/obo/GO_0006584 catecholamine metabolism MONDO:0043005 genetic multiple congenital anomalies/dysmorphic syndrome biolink:Disease mondo Orphanet:183533 An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. ORPHA:183533 http://purl.obolibrary.org/obo/MONDO_0043005 hereditary multiple congenital anomalies/dysmorphic syndrome ordo_group_of_disorders HGNC:31371 GPR179 biolink:OntologyClass mondo http://identifiers.org/hgnc/31371 MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome biolink:Disease mondo Orphanet:508542 ORPHA:508542 http://purl.obolibrary.org/obo/MONDO_0033683 ordo_disease MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome biolink:Disease mondo Orphanet:508533 ORPHA:508533 http://purl.obolibrary.org/obo/MONDO_0033682 ordo_disease HGNC:18398 SMARCAD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18398 PATO:0001309 duration biolink:OntologyClass mondo A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. http://purl.obolibrary.org/obo/PATO_0001309 period|time PATO:0001305 increased temperature biolink:OntologyClass mondo A temperature which is relatively high. http://purl.obolibrary.org/obo/PATO_0001305 hot|high temperature GO:0006591 ornithine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. http://purl.obolibrary.org/obo/GO_0006591 ornithine metabolism PATO:0001306 decreased temperature biolink:OntologyClass mondo A temperature which is relatively low. http://purl.obolibrary.org/obo/PATO_0001306 cold|low temperature NCBITaxon:31704 Coxsackievirus A16 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_31704 CVA-16|CVA16|Human coxsackievirus A16|Coxsackie A virus type 16|Human enterovirus CVA16|Coxsackie virus A-16|CV-A16 MONDO:0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability biolink:Disease mondo Orphanet:330206 An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. ORPHA:330206 http://purl.obolibrary.org/obo/MONDO_0043008 hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability|genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)|genetic MCA ordo_group_of_disorders MONDO:0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome biolink:Disease mondo Orphanet:330197 An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. ORPHA:330197 http://purl.obolibrary.org/obo/MONDO_0043007 genetic MCA/variable MR|genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome ordo_group_of_disorders PATO:0001300 optical quality biolink:OntologyClass mondo An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light. http://purl.obolibrary.org/obo/PATO_0001300 MONDO:0043009 genetic lethal multiple congenital anomalies/dysmorphic syndrome biolink:Disease mondo Orphanet:471383 An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. ORPHA:471383 http://purl.obolibrary.org/obo/MONDO_0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome ordo_group_of_disorders HGNC:18374 HPSE2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18374 GO:0006568 tryptophan metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. http://purl.obolibrary.org/obo/GO_0006568 tryptophan metabolism GO:0006564 L-serine biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. http://purl.obolibrary.org/obo/GO_0006564 L-serine anabolism|L-serine synthesis|L-serine formation|L-serine biosynthesis GO:0006563 L-serine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. http://purl.obolibrary.org/obo/GO_0006563 L-serine metabolism GO:0006560 proline metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins. http://purl.obolibrary.org/obo/GO_0006560 proline metabolism GO:0018549 methanethiol oxidase activity biolink:OntologyClass mondo Catalysis of the reaction: methanethiol + O2 + H2O = formaldehyde + hydrogen sulfide + hydrogen peroxide. http://purl.obolibrary.org/obo/GO_0018549 methanethiol:oxygen oxidoreductase activity|(MM)-oxidase activity|methyl mercaptan oxidase activity|MT-oxidase activity|methylmercaptan oxidase activity MONDO:0018095 Weaver-Williams syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:3448|UMLS:CN204431 Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. UMLS:CN204431|ORPHA:3448 http://purl.obolibrary.org/obo/MONDO_0018095 ordo_malformation_syndrome MONDO:0018094 Waardenburg syndrome biolink:Disease mondo Orphanet:3440|OMIMPS:193500|NCIT:C85222|SCTID:715952000|MedDRA:10069203|GARD:0005525|ICD10:E70.3|DOID:9258 Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. ORPHA:3440|UMLS:C0043008|MESH:D014849|SNOMEDCT:715952000|MEDDRA:10069203|NCIT:C85222|DOID:9258 http://purl.obolibrary.org/obo/MONDO_0018094 Van der Hoeve Halbertsma Waardenburg Gualdi syndrome|Mende syndrome|Waardenburg Shah syndrome|Waardenburg, types I and/or II|van der Hoeve Halbertsona Waardenburg syndrome|Waardenburg's syndrome|Waardenburg syndrome ordo_disease|clingen MONDO:0018097 West syndrome biolink:Disease mondo Orphanet:3451|ICD10:G40.4|UMLS:C0037769|MedDRA:10021750|GARD:0007887|SCTID:28055006|COHD:376105|ICD9:345.60|ICD9:348.89|DOID:0050562|NCIT:C84788 West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. NCIT:C84788|ORPHA:3451|DOID:0050562|SNOMEDCT:28055006|UMLS:C0037769|MEDDRA:10021750 http://purl.obolibrary.org/obo/MONDO_0018097 infantile spasms|X-linked infantile spasms|tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG|X-linked infantile spasm syndrome|Infantile spasms syndrome|West's syndrome|intellectual disability-hypsarrhythmia syndrome ordo_clinical_syndrome MONDO:0018096 Weill-Marchesani syndrome biolink:Disease mondo UMLS:C0265313|MedDRA:10064963|ICD9:759.89|GARD:0004936|SCTID:2884008|OMIMPS:277600|Orphanet:3449|ICD10:Q87.0|MESH:D056846|DOID:0050475|NCIT:C85226 Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. ORPHA:3449|MESH:D056846|UMLS:C0265313|DOID:0050475|MEDDRA:10064963|SNOMEDCT:2884008|NCIT:C85226 http://purl.obolibrary.org/obo/MONDO_0018096 spherophakia-brachymorphia syndrome|mesodermal dysmorphodystrophy congenital|Marchesani-Weill syndrome|mesodermal Dysmorphodystrophy, congenital|congenital mesodermal dystrophy|GEMSS syndrome|spherophakia brachymorphia syndrome|WM syndrome|WMS ordo_malformation_syndrome MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome biolink:Disease mondo UMLS:C2931177|Orphanet:3433|SCTID:719378009|GARD:0005490|MESH:C536349|ICD10:Q87.8 Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. ORPHA:3433|SNOMEDCT:719378009|MESH:C536349|UMLS:C2931177 http://purl.obolibrary.org/obo/MONDO_0018091 microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability|microcephaly brachydactyly kyphoscoliosis|Viljoen Kallis Voges syndrome|Viljoen-Kallis-Voges syndrome gard_rare|ordo_malformation_syndrome MONDO:0018090 double outlet left ventricle (disease) biolink:Disease mondo SCTID:7368005|HP:0011581|ICD9:745.19|ICD10:Q20.2|Orphanet:3427|GARD:0001907 Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle. SNOMEDCT:7368005|ORPHA:3427|UMLS:C0265809 http://purl.obolibrary.org/obo/MONDO_0018090 DOLV|Double outlet left ventricle gard_rare|ordo_morphological_anomaly MONDO:0018093 arbovirus fever biolink:Disease mondo UMLS:CN227261|GARD:0000432|Orphanet:344 Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed. UMLS:CN227261|ORPHA:344 http://purl.obolibrary.org/obo/MONDO_0018093 Arbovirosis|arbovirus fever ordo_group_of_disorders|gard_rare MONDO:0018092 Vogt-Koyanagi-Harada disease biolink:Disease mondo UMLS:C0042170|NCIT:C85218|SCTID:193497004|ICD9:364.24|MESH:D014607|DOID:12297|ICD9:363.22|Orphanet:3437|ICD10:H20.8|COHD:4108968|ICD10:H30.8|ICD10:H20.82|ICD10:H30.81|GARD:0007862 Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations. ORPHA:3437|MESH:D014607|UMLS:C0042170|DOID:12297|SNOMEDCT:193497004|NCIT:C85218 http://purl.obolibrary.org/obo/MONDO_0018092 Harada's disease|Vogt-Koyanagi-Harada syndrome|Vogt-Koyanagi syndrome|VKH disease|uveomeningoencephalitic syndrome|VKH syndrome|Uveomenigitic syndrome gard_rare|ordo_disease GO:0006575 cellular modified amino acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents. http://purl.obolibrary.org/obo/GO_0006575 cellular amino acid derivative metabolism|cellular amino acid derivative metabolic process|modified amino acid metabolism|amino acid derivative metabolic process|modified amino acid metabolic process|cellular modified amino acid metabolism GO:0006576 cellular biogenic amine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. http://purl.obolibrary.org/obo/GO_0006576 biogenic amine metabolism GO:0006573 valine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid. http://purl.obolibrary.org/obo/GO_0006573 valine metabolism GO:0006572 tyrosine catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/GO_0006572 tyrosine degradation|tyrosine breakdown|tyrosine catabolism GO:0006570 tyrosine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolism MONDO:0018099 obsolete Whipple disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018099 MONDO:0018098 autosomal dominant limb-girdle muscular dystrophy type 1E (DES) biolink:Disease mondo ICD10:G71.0|UMLS:C3148763|Orphanet:34517|GARD:0012529 Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions. ORPHA:34517|UMLS:C3148763 http://purl.obolibrary.org/obo/MONDO_0018098 LGMD1E|limb-girdle muscular dystrophy type 1E ordo_disease NCBITaxon:43738 Schizophora organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43738 MONDO:0021650 uterine corpus neuroendocrine neoplasm biolink:Disease mondo NCIT:C126771|UMLS:C4288048 An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. UMLS:C4288048|NCIT:C126771 http://purl.obolibrary.org/obo/MONDO_0021650 body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade|body of uterus neuroendocrine neoplasm|body of uterus neuroendocrine tumor|body of uterus neuroendocrine tumor|uterine corpus neuroendocrine tumor|body of uterus NET|uterine corpus neuroendocrine neoplasm|neuroendocrine neoplasm of body of uterus MONDO:0021651 synpolydactyly biolink:Disease mondo NCIT:C75003|MESH:C538153 A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits). NCIT:C75003|MESH:C538153 http://purl.obolibrary.org/obo/MONDO_0021651 synpolydactyly MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 biolink:Disease mondo OMIM:619053 http://identifiers.org/omim/619053 http://purl.obolibrary.org/obo/MONDO_0033639 MC4DN10 MONDO:0006019 yaws biolink:Disease mondo ICD9:102.7|DOID:10371|COHD:432829|UMLS:C0043388|ICD10:A66.9|ICD10:A66|GARD:0007913|EFO:0007548|ICD9:102|MESH:D015001|SCTID:70647001|ICD9:102.9|NCIT:C41353 An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease. DOID:10371|MESH:D015001|NCIT:C41353|SNOMEDCT:70647001|UMLS:C0043388 http://purl.obolibrary.org/obo/MONDO_0006019 polypapilloma tropicum|Treponema pallidum subsp. pertenue disease or disorder|Treponema pertenue infection|frambesia|Treponema pallidum subsp. pertenue infectious disease|frambosie|Treponema pallidum subsp. pertenue caused disease or disorder|frambesia tropica|Bouba|endemic treponematoses|thymosis gard_rare MONDO:0021652 diffuse type adenocarcinoma biolink:Disease mondo ICDO:8145/3|NCIT:C4127 An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma. NCIT:C4127 http://purl.obolibrary.org/obo/MONDO_0021652 diffuse type carcinoma|diffuse type adenocarcinoma MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 biolink:Disease mondo OMIM:619052 http://identifiers.org/omim/619052 http://purl.obolibrary.org/obo/MONDO_0033638 MC4DN8 MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 biolink:Disease mondo OMIM:619051 http://identifiers.org/omim/619051 http://purl.obolibrary.org/obo/MONDO_0033637 MC4DN7 MONDO:0021653 cutaneous focal mucinosis biolink:Disease mondo SCTID:110981005|ICD9:701.8|UMLS:C0406659 UMLS:C0406659|SNOMEDCT:110981005 http://purl.obolibrary.org/obo/MONDO_0021653 focal mucinoses|focal mucinosis NCBITaxon:43735 Tabanomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43735 MONDO:0021654 diffuse cutaneous mucinosis biolink:Disease mondo ICD9:701.8|UMLS:C0406655|SCTID:238945000 UMLS:C0406655|SNOMEDCT:238945000 http://purl.obolibrary.org/obo/MONDO_0021654 MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 biolink:Disease mondo OMIM:619048 http://identifiers.org/omim/619048 http://purl.obolibrary.org/obo/MONDO_0033636 MC4DN4 MONDO:0006017 obsolete western equine encephalitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006017 MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 biolink:Disease mondo OMIM:619046 http://identifiers.org/omim/619046 http://purl.obolibrary.org/obo/MONDO_0033635 MC4DN3 MONDO:0021655 secondary catabolic mucinosis of skin biolink:Disease mondo ICD9:701.8|UMLS:C1274173|SCTID:402723003 SNOMEDCT:402723003|UMLS:C1274173 http://purl.obolibrary.org/obo/MONDO_0021655 MONDO:0008679 Wilms tumor type 1 biolink:Disease mondo OMIM:194070|UMLS:CN033288 UMLS:CN033288|http://identifiers.org/omim/194070 http://purl.obolibrary.org/obo/MONDO_0008679 WT1|Wilms tumor 1; WT1|Wilms tumor 1|renal Wilms tumor|nephroblastoma|Wilms' tumor|Wilms tumor type 1 MONDO:0006018 Wissler syndrome biolink:Disease mondo UMLS:C0043195|DOID:3047|MESH:D014924|EFO:0007547 A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate. UMLS:C0043195|MESH:D014924|DOID:3047 http://purl.obolibrary.org/obo/MONDO_0006018 Wissler syndrome|Wissler-Fanconi syndrome (finding)|Wissler-Fanconi syndrome|Wissler's subsepsis allergica|Wissler's syndrome MONDO:0006015 Waterhouse-Friderichsen syndrome biolink:Disease mondo UMLS:C0043068|MedDRA:10047847|NCIT:C85225|MESH:D014884|SCTID:36102002|ICD10:A39.1|ICD10:A39.1+|ICD10:E35.1*|GARD:0009449|Orphanet:100067|DOID:9931|ICD9:036.3|EFO:0007544 A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. NCIT:C85225|SNOMEDCT:36102002|ORPHA:100067|DOID:9931|UMLS:C0043068|MESH:D014884|MEDDRA:10047847 http://purl.obolibrary.org/obo/MONDO_0006015 meningococcal hemorrhagic adrenalitis|fatal pneumococcal Waterhouse-Friderichsen syndrome|Waterhouse–Friderichsen syndrome|WFS ordo_clinical_subtype MONDO:0008678 Williams syndrome biolink:Disease mondo UMLS:C0175702|ICD9:759.89|SCTID:63247009|NCIT:C85232|ICD10:Q87.8|OMIM:194050|MedDRA:10049644|GARD:0007891|MESH:D018980|Orphanet:904|DOID:1928 Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) NCIT:C85232|MESH:D018980|DOID:1928|MEDDRA:10049644|SNOMEDCT:63247009|http://identifiers.org/omim/194050|UMLS:C0175702|ORPHA:904 http://purl.obolibrary.org/obo/MONDO_0008678 deletion 7q11.23|chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb|Williams-Beuren syndrome (WBS)|Fanconi Schlesinger syndrome|monosomy 7q11.23|WBS|Williams-Beuren syndrome|Williams-Beuren syndrome; WBS|WMS|Williams syndrome ordo_malformation_syndrome MONDO:0008677 widow's peak (disease) biolink:Disease mondo OMIM:194000|HP:0000349 http://identifiers.org/omim/194000 http://purl.obolibrary.org/obo/MONDO_0008677 widow'S peak|widow's peak MONDO:0006016 obsolete West Nile encephalitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006016 MONDO:0008676 white sponge nevus 1 biolink:Disease mondo UMLS:C4011926|OMIM:193900 Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene. http://identifiers.org/omim/193900|UMLS:C4011926 http://purl.obolibrary.org/obo/MONDO_0008676 WHITE sponge NEVUS 1; WSN1|KRT4 hereditary mucosal leukokeratosis|hereditary mucosal leukokeratosis caused by mutation in KRT4|WSN1|leukokeratosis, hereditary mucosal|white sponge nevus 1|White sponge Nevus type 1|White sponge Nevus of Cannon MONDO:0006013 visna disease biolink:Disease mondo EFO:0007542|MESH:D016182|UMLS:C0080323 Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie. UMLS:C0080323|MESH:D016182 http://purl.obolibrary.org/obo/MONDO_0006013 Visna/maedi virus disease or disorder|Visna/maedi virus infectious disease|Visna/maedi virus caused disease or disorder MONDO:0006014 vulvovaginal candidiasis biolink:Disease mondo EFO:0007543|DOID:2272|ICD10:B37.3|ICD9:112.1|MESH:D002181|UMLS:C0700345|COHD:4217669|SCTID:72605008|NCIT:C2914 Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection. MESH:D002181|UMLS:C0700345|SNOMEDCT:72605008|NCIT:C2914|DOID:2272 http://purl.obolibrary.org/obo/MONDO_0006014 candidal vulvovaginitis|candidal: cervix|monilial vulvovaginitis|candidiasis of vulva and vagina|vulvovaginal candidiasis|vaginal candidiasis|candidal: [vulvovaginitis NOS] or [cervix] MONDO:0008675 freeman-Sheldon syndrome biolink:Disease mondo NCIT:C98931|SCTID:52616002|UMLS:C0265224|GARD:0006466|Orphanet:2053|OMIM:193700|MESH:C535483|ICD10:Q87.0 Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. SNOMEDCT:52616002|NCIT:C98931|ORPHA:2053|UMLS:C0265224|MESH:C535483|http://identifiers.org/omim/193700 http://purl.obolibrary.org/obo/MONDO_0008675 Craniocarpotarsal dystrophy|whistling-face syndrome|distal arthrogryposis type 2A|freeman-Sheldon syndrome|whistling face syndrome|cranio-carpo-tarsal syndrome|arthrogryposis, distal, type 2A; DA2A|windmill-vane-hand syndrome|arthrogryposis distal type 2A|DA2A|Craniocarpotarsal dysplasia|freeman Sheldon syndrome|arthrogryposis, distal, type 2A|whistling face-windmill vane hand syndrome|FSS ordo_malformation_syndrome NCBITaxon:43733 Muscomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43733 Asilomorpha MONDO:0008674 WHIM syndrome biolink:Disease mondo DOID:0060591|Orphanet:51636|SCTID:234571003|OMIM:193670|GARD:0009297|UMLS:C0472817|ICD10:D81.8|MESH:C536697 WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). UMLS:C0472817|ORPHA:51636|SNOMEDCT:234571003|MESH:C536697|http://identifiers.org/omim/193670|DOID:0060591 http://purl.obolibrary.org/obo/MONDO_0008674 WILM|WHIMS|Warts-infections-leukopenia-myelokatexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis|Warts-hypogammaglobulinemia-infections-myelokathexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|WHIM syndrome; WHIMS|WHIM syndrome ordo_disease|gard_rare MONDO:0006011 viral hepatitis biolink:Disease mondo ICD9:573.1|EFO:0004196|COHD:4291005|SCTID:3738000|UMLS:C0019194|NCIT:C35124|UMLS:C0042721|MESH:D006525|MESH:D006524|DOID:1884|ICD10:B15.B19 An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis. DOID:1884|NCIT:C35124|SNOMEDCT:3738000|UMLS:C0042721|MESH:D006525 http://purl.obolibrary.org/obo/MONDO_0006011 viral human hepatitis|Viruses hepatitis|viral hepatitis with hepatic coma|viral Hepatitis|Hepatitis viral|unspecified viral hepatitis with hepatic coma|human viral hepatitis|Viruses caused hepatitis MONDO:0006012 viral pneumonia biolink:Disease mondo EFO:0007541|UMLS:C0032310|ICD9:480.8|MESH:D011024|COHD:261326|ICD10:J12.9|ICD9:480|ICD9:480.9|DOID:10533|SCTID:75570004 Inflammation of the lung parenchyma that is caused by a viral infection. SNOMEDCT:75570004|DOID:10533|UMLS:C0032310|MESH:D011024 http://purl.obolibrary.org/obo/MONDO_0006012 Viruses caused pneumonia|Viruses pneumonia MONDO:0008673 acrofacial dysostosis, Weyers type biolink:Disease mondo SCTID:277807007|MESH:C536695|Orphanet:952|ICD9:520.8|OMIM:193530|ICD10:Q75.4|GARD:0000497|UMLS:C0457013 Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner. SNOMEDCT:277807007|MESH:C536695|UMLS:C0457013|ORPHA:952|http://identifiers.org/omim/193530 http://purl.obolibrary.org/obo/MONDO_0008673 Weyers acrodental dysostosis|curry Hall syndrome|Weyers acrofacial dysostosis|Weyers acrofacial dysostosis; wad|wad|acrofacial dysostosis of Weyers|acrodental dysostosis of Weyers|curry-Hall syndrome ordo_malformation_syndrome MONDO:0008672 Watson syndrome biolink:Disease mondo GARD:0005540|UMLS:CN204429|SCTID:403820003|Orphanet:3444|ICD9:709.8|OMIM:193520 Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual. UMLS:CN204429|ORPHA:3444|SNOMEDCT:403820003|http://identifiers.org/omim/193520 http://purl.obolibrary.org/obo/MONDO_0008672 Watson syndrome|Watson syndrome; WTSN|cafe-Au-lait Spots with pulmonic stenosis|pulmonic stenosis with cafe-Au-lait Spots|WTSN gard_rare MONDO:0008671 Waardenburg syndrome type 2A biolink:Disease mondo NCIT:C75011|GARD:0005521|OMIM:193510|MESH:C536464|DOID:0110950 Waardenburg syndrome Type 2 caused by mutations in the MITF gene. NCIT:C75011|MESH:C536464|http://identifiers.org/omim/193510|DOID:0110950 http://purl.obolibrary.org/obo/MONDO_0008671 Waardenburg syndrome, type 2A; WS2A|Waardenburg syndrome type IIA|Ws2|Waardenburg syndrome type 2 caused by mutation in MITF|Waardenburg syndrome, type 2A|MITF Waardenburg syndrome type 2|Waardenburg syndrome without dystopia canthorum|WS2A gard_rare MONDO:0006010 salmonid viral hemorrhagic septicemia biolink:Disease mondo EFO:0007539|MESH:D031941|UMLS:C1135869 A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus), UMLS:C1135869|MESH:D031941 http://purl.obolibrary.org/obo/MONDO_0006010 MONDO:0008670 Waardenburg syndrome type 1 biolink:Disease mondo ICD10:E70.3|OMIM:193500|Orphanet:894|GARD:0005519|DOID:0110948|UMLS:C1847800|NCIT:C75008 Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. UMLS:C1847800|NCIT:C75008|ORPHA:894|http://identifiers.org/omim/193500|DOID:0110948 http://purl.obolibrary.org/obo/MONDO_0008670 WS1|Waardenburg syndrome, type 1; WS1|Waardenburg's syndrome type 1|Waardenburg syndrome type I|Waardenburg syndrome, type 1|Waardenburg syndrome with dystopia canthorum ordo_clinical_subtype|gard_rare UBERON:0030276 lumbar spinal cord ventral horn biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0030276 lumbar spinal cord ventral horn|lumbar spinal cord anterior horn MONDO:0018008 idiopathic giant cell myocarditis biolink:Disease mondo Orphanet:329874|ICD10:I40.8 ORPHA:329874 http://purl.obolibrary.org/obo/MONDO_0018008 IGCM ordo_disease MONDO:0018007 mosaic genome-wide paternal uniparental disomy biolink:Disease mondo UMLS:CN230278|Orphanet:329813 UMLS:CN230278|ORPHA:329813 http://purl.obolibrary.org/obo/MONDO_0018007 genome-wide paternal uniparental disomy mosaicism|Mosaic genome-wide paternal UPD|androgenetic/biparental mosaicism ordo_malformation_syndrome MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy biolink:Disease mondo Orphanet:329883|ICD10:K29.6 Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. ORPHA:329883 http://purl.obolibrary.org/obo/MONDO_0018009 hypertrophic gastropathy without hypoproteinemia ordo_disease MONDO:0018004 acute megakaryoblastic leukemia without down syndrome biolink:Disease mondo Orphanet:329469|UMLS:CN204216|ICD10:C94.2 UMLS:CN204216|ORPHA:329469 http://purl.obolibrary.org/obo/MONDO_0018004 non-DS-AMKL ordo_clinical_subtype MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 biolink:Disease mondo OMIM:619054 http://identifiers.org/omim/619054 http://purl.obolibrary.org/obo/MONDO_0033645 MC4DN11 MONDO:0021645 esophageal varices with bleeding biolink:Disease mondo ICD10:I85.01|ICD10:I85.0|SCTID:17709002|ICD9:456.0 SNOMEDCT:17709002 http://purl.obolibrary.org/obo/MONDO_0021645 MONDO:0018003 limbic encephalitis with DPP6 antibodies biolink:Disease mondo ICD10:G13.1|Orphanet:329341 ORPHA:329341 http://purl.obolibrary.org/obo/MONDO_0018003 limbic encephalitis with DPPX antibodies|limbic encephalitis with dipeptidyl-peptidase 6 antibodies ordo_disease MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 biolink:Disease mondo OMIM:619082 http://identifiers.org/omim/619082 http://purl.obolibrary.org/obo/MONDO_0033644 MRCS1 MONDO:0018006 adult-onset distal myopathy due to VCP mutation biolink:Disease mondo ICD10:G71.0|Orphanet:329478|UMLS:CN204218 Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. UMLS:CN204218|ORPHA:329478 http://purl.obolibrary.org/obo/MONDO_0018006 ordo_disease MONDO:0033643 inflammatory bowel disease 30 biolink:Disease mondo OMIM:619079 http://identifiers.org/omim/619079 http://purl.obolibrary.org/obo/MONDO_0033643 IBD30 MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities biolink:Disease mondo OMIM:619075 http://identifiers.org/omim/619075 http://purl.obolibrary.org/obo/MONDO_0033642 NEDABA MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome biolink:Disease mondo ICD10:G11.4|Orphanet:329475|UMLS:CN204217 Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. UMLS:CN204217|ORPHA:329475 http://purl.obolibrary.org/obo/MONDO_0018005 ordo_disease HGNC:18358 IL17RC biolink:OntologyClass mondo http://identifiers.org/hgnc/18358 MONDO:0018000 hereditary thrombocytosis with transverse limb defect biolink:Disease mondo ICD10:Q87.2|UMLS:CN204208|Orphanet:329319 Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. UMLS:CN204208|ORPHA:329319 http://purl.obolibrary.org/obo/MONDO_0018000 familial thrombocytosis with transverse limb defect|thrombocythemia with distal limb defects ordo_disease MONDO:0033641 cleft palate, proliferative retinopathy, and developmental delay biolink:Disease mondo OMIM:619074 http://identifiers.org/omim/619074 http://purl.obolibrary.org/obo/MONDO_0033641 CPPRDD MONDO:0033640 vitamin D-dependent rickets, type 3 biolink:Disease mondo OMIM:619073 http://identifiers.org/omim/619073 http://purl.obolibrary.org/obo/MONDO_0033640 VDDR3 MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy biolink:Disease mondo Orphanet:329336|SCTID:725464001|UMLS:C4511138|ICD10:G71.3 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. SNOMEDCT:725464001|ORPHA:329336|UMLS:C4511138 http://purl.obolibrary.org/obo/MONDO_0018002 adult-onset CPEO with mitochondrial myopathy ordo_disease MONDO:0018001 inverse Klippel-Trenaunay syndrome biolink:Disease mondo ICD10:Q87.2|Orphanet:329324|UMLS:CN204209 UMLS:CN204209|ORPHA:329324 http://purl.obolibrary.org/obo/MONDO_0018001 inverse Klippel-Trénaunay syndrome|cutaneous hemangioma with muscle or bone atrophy ordo_disease NCBITaxon:1056966 Aedini organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1056966 HGNC:18362 IMPG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18362 PATO-PROPERTY:reciprocal_of reciprocal_of biolink:OntologyClass mondo q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. http://purl.obolibrary.org/obo/pato#reciprocal_of MONDO:0021640 grade III glioma biolink:Disease mondo UMLS:C4287997|NCIT:C127816 A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma. UMLS:C4287997|NCIT:C127816 http://purl.obolibrary.org/obo/MONDO_0021640 WHO grade III glioma|anaplastic glioma MONDO:0021641 Bunyaviridae infectious disease biolink:Disease mondo SCTID:105632002|MESH:D002044|EFO:0007188 Virus diseases caused by the bunyaviridae. SNOMEDCT:105632002|MESH:D002044 http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae disease or disorder|Bunyaviridae infectious disease|disease due to Bunyaviridae|Bunyavirus infections|disease caused by Bunyaviridae|disease caused by Bunyavirus|disease due to Bunyavirus|Bunyaviridae caused disease or disorder|infections, Bunyaviridae|infections, Bunyavirus|Bunyaviridae infection|Bunyavirus infection MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 biolink:Disease mondo OMIM:619058 http://identifiers.org/omim/619058 http://purl.obolibrary.org/obo/MONDO_0033649 MC4DN14 MONDO:0021642 vulval varices biolink:Disease mondo ICD10:I86.3|ICD9:456.6|HP:0100677|SCTID:48868008|UMLS:C0155796 A varicose disease that involves the mammalian vulva. UMLS:C0155796|SNOMEDCT:48868008 http://purl.obolibrary.org/obo/MONDO_0021642 mammalian vulva varicose disease|varicose disease of mammalian vulva MONDO:0006028 cecum adenocarcinoma biolink:Disease mondo NCIT:C5543|UMLS:C1332866|DOID:3039|SCTID:413446001|EFO:1000020 A carcinoma that arises from glandular epithelial cells of the caecum SNOMEDCT:413446001|NCIT:C5543|DOID:3039|UMLS:C1332866 http://purl.obolibrary.org/obo/MONDO_0006028 cecal adenocarcinoma|adenocarcinoma of the cecum|adenocarcinoma of cecum|cecum adenocarcinoma|caecum adenocarcinoma MONDO:0021643 mesenteric varices biolink:Disease mondo HP:0002626|SCTID:22949006 A varicose disease that involves the mesentery. SNOMEDCT:22949006 http://purl.obolibrary.org/obo/MONDO_0021643 mesentery varicose disease|varicose disease of mesentery PO:0030109 hesperidium fruit biolink:OntologyClass mondo A berry fruit (PO:0030108) which develops from a superior gynoecium (PO:0009062) and at maturity comprises a thickened exocarp (PO:0009085), thickened mesocarp (PO:0009087), and endocarp (PO:0009086), and has as parts juice sacs (PO:0006013) on a carpel adaxial epidermis (PO:0025618). http://purl.obolibrary.org/obo/PO_0030109 MONDO:0006029 cecum carcinoma biolink:Disease mondo UMLS:C0149640|NCIT:C3491|SCTID:255081007|EFO:1000021|DOID:1519 A carcinoma that arises from epithelial cells of the caecum DOID:1519|UMLS:C0149640|NCIT:C3491|SNOMEDCT:255081007 http://purl.obolibrary.org/obo/MONDO_0006029 carcinoma of cecum|carcinoma of caecum|cecum carcinoma|cecum cancer|carcinoma of the cecum|caecum carcinoma|cecal cancer MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 biolink:Disease mondo OMIM:619055 http://identifiers.org/omim/619055 http://purl.obolibrary.org/obo/MONDO_0033646 MC4DN12 PO:0030108 berry fruit biolink:OntologyClass mondo A fruit (PO:0009001) which at maturity comprises a fleshy endocarp (PO:0009086), fleshy mesocarp (PO:0009087), and fleshy exocarp (PO:0009085). http://purl.obolibrary.org/obo/PO_0030108 MONDO:0021644 esophageal varices without bleeding biolink:Disease mondo ICD10:I85.00|ICD9:456.1|ICD10:I85.9|SCTID:14223005|UMLS:C0267092 UMLS:C0267092|SNOMEDCT:14223005 http://purl.obolibrary.org/obo/MONDO_0021644 esophageal varices without bleeding MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema biolink:Disease mondo GARD:0010676|OMIM:194380 http://identifiers.org/omim/194380 http://purl.obolibrary.org/obo/MONDO_0008689 DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema; DHS1|DHS|DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; DHS|Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema|xerocytosis, hereditary|pseudohyperkalemia, familial, 1, due to Red cell leak|Desiccytosis, hereditary|Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema|dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|dehydrated hereditary stomatocytosis|DHS1|pseudohyperkalemia Edinburgh gard_rare MONDO:0006026 urinary bladder disease biolink:Disease mondo ICD9:596.9|EFO:1000018|MESH:D001745|UMLS:C0005686|DOID:365|COHD:201337|NCIT:C2900|SCTID:42643001|ICD9:596.8|ICD10:N32.9 A disease involving the urinary bladder. UMLS:C0005686|SNOMEDCT:42643001|NCIT:C2900|MESH:D001745|DOID:365 http://purl.obolibrary.org/obo/MONDO_0006026 disorder of urinary bladder|urinary bladder disorder|disease or disorder of urinary bladder|disease of urinary bladder|urinary bladder disease or disorder|bladder disease|urinary bladder disease|disorder of urinary bladder|bladder disorder MONDO:0008688 WT limb-blood syndrome biolink:Disease mondo OMIM:194350|SCTID:719019000|Orphanet:3466|ICD10:D61.0|GARD:0000039|MESH:C536751|UMLS:C1327917 WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. ORPHA:3466|SNOMEDCT:719019000|http://identifiers.org/omim/194350|MESH:C536751|UMLS:C1327917 http://purl.obolibrary.org/obo/MONDO_0008688 WT limb-blood syndrome|WT limb blood syndrome|radial-ulnar hypoplasia with bone marrow failure and/or leukemia|WTsyndrome ordo_disease|gard_rare MONDO:0006027 breast synovial sarcoma biolink:Disease mondo EFO:1000019 A synovial sarcoma (disease) that involves the breast. http://purl.obolibrary.org/obo/MONDO_0006027 breast synovial sarcoma (disease) MONDO:0008687 Woronets trait biolink:Disease mondo OMIM:194320 http://identifiers.org/omim/194320 http://purl.obolibrary.org/obo/MONDO_0008687 Woronets trait MONDO:0006024 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006024 MONDO:0008686 isolated familial woolly hair disorder biolink:Disease mondo ICD10:Q84.1|MESH:C536745|MedDRA:10048017|Orphanet:170|UMLS:CN200245|SCTID:52564001|GARD:0005597|HP:0002224 Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair. UMLS:C0345427|MEDDRA:10048017|SNOMEDCT:52564001|UMLS:C0343073|UMLS:CN200245|ORPHA:170|MESH:C536745 http://purl.obolibrary.org/obo/MONDO_0008686 hereditary wooly hair syndrome|hereditary woolly hair syndrome|hereditary woolly hair (autosomal dominant)|woolly hair, autosomal dominant|woolly hair, autosomal dominant; ADWH|woolly hair syndrome|familial wooly hair syndrome|familial woolly hair (autosomal recessive)|familial woolly hair syndrome|wooly hair|woolly hair ordo_disease MONDO:0006025 autosomal recessive disease biolink:Disease mondo DOID:0050737|EFO:1000017|UMLS:C0265388|ICD9:758.5|SCTID:85995004 Autosomal recessive form of disease. UMLS:C0265388|DOID:0050737|SNOMEDCT:85995004 http://purl.obolibrary.org/obo/MONDO_0006025 disease, autosomal recessive|recessive hereditary disorder (autosomal)|autosomal recessive disease or disorder|autosomal recessive hereditary disorder|autosomal recessive inherited disorder|autosomal recessive inherited disease|autosomal recessive hereditary disease|disease or disorder, autosomal recessive MONDO:0008685 Wolff-Parkinson-white syndrome (disease) biolink:Disease mondo ICD10:I45.6|DOID:384|HP:0001716|OMIM:194200|ICD9:426.7|SCTID:17869006|EFO:1001450|COHD:313224|NCIT:C35132 A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes. SNOMEDCT:17869006|NCIT:C35132|DOID:384|http://identifiers.org/omim/194200 http://purl.obolibrary.org/obo/MONDO_0008685 Wolff-Parkinson-White pattern (finding)|Wolff-Parkinson-White syndrome|preexcitation syndrome|Wpw syndrome|anomalous A-V excitation|accessory atrioventricular pathways|anomalous atrioventricular excitation|WPW|Wolff-Parkinson-White pattern|WOLFF-Parkinson-WHITE syndrome MONDO:0006022 acidosis disorder biolink:Disease mondo ICD9:276.2|EFO:1000014|COHD:435517|SCTID:51387008|HP:0001941 An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. NCIT:C83504|SNOMEDCT:51387008 http://purl.obolibrary.org/obo/MONDO_0006022 acidosis MONDO:0008684 Wolf-Hirschhorn syndrome biolink:Disease mondo MedDRA:10050361|UMLS:C0796117|UMLS:C0796202|UMLS:C1956097|ICD10:Q93.3|OMIM:194190|Orphanet:280|UMLS:CN207113|GARD:0007896|NCIT:C35528|MESH:D054877|SCTID:718226002|DOID:0050460 Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. UMLS:C0796117|UMLS:C0796202|NCIT:C35528|ORPHA:280|DOID:0050460|http://identifiers.org/omim/194190|UMLS:CN207113|MEDDRA:10050361|MESH:C536740|MESH:D054877|SNOMEDCT:718226002|UMLS:C1956097 http://purl.obolibrary.org/obo/MONDO_0008684 WHS|chromosome 4p16.3 deletion syndrome|Wolf-Hirschhorn syndrome|4p syndrome|4p deletion syndrome|Wittwer syndrome|distal monosomy 4p|Wolf syndrome|Pitt syndrome|Pitt-Rogers-Danks syndrome|4p- syndrome|chromosome 4p syndrome|chromosome 4P16.3 deletion syndrome|WOLF-Hirschhorn syndrome; WHS|distal deletion 4p|telomeric deletion 4p|microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation gard_rare|ordo_malformation_syndrome MONDO:0006023 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006023 MONDO:0008683 Wilms tumor 3 biolink:Disease mondo OMIM:194090|MESH:C565991|UMLS:C1860265 UMLS:C1860265|http://identifiers.org/omim/194090|MESH:C565991 http://purl.obolibrary.org/obo/MONDO_0008683 Wilms tumor 3|WT3|Wilms tumor 3; WT3 MONDO:0006020 obsolete Zollinger-Ellison syndrome (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006020 MONDO:0006021 Prinzmetal angina biolink:Disease mondo GARD:0007465|UMLS:C2931193|UMLS:C0002963|DOID:0111151|EFO:1000013|MESH:D000788|ICD9:413.1|SCTID:87343002|Wikipedia:Prinzmetal's_angina A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma. SNOMEDCT:87343002|NCIT:C66915|UMLS:C0002963|DOID:0111151|MESH:D000788|UMLS:C2931193 http://purl.obolibrary.org/obo/MONDO_0006021 angina inversa|Prinzmetal's variant angina|variant angina|variant angina pectoris|Prinzmetal's angina MONDO:0008682 Denys-Drash syndrome biolink:Disease mondo GARD:0005576|OMIM:194080|ICD9:189.0|SCTID:236385009|Orphanet:220|UMLS:C0950121|NCIT:C84668|DOID:3764|ICD10:N04.1|UMLS:C3151568|MESH:D030321|MedDRA:10070179 Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. MEDDRA:10070179|MESH:D030321|ORPHA:220|UMLS:C0950121|SNOMEDCT:236385009|http://identifiers.org/omim/194080|UMLS:C3151568|DOID:3764|NCIT:C84668 http://purl.obolibrary.org/obo/MONDO_0008682 pseudohermaphroditism, nephron disorder and Wilms' tumor|nephropathy associated with male pseudohermaphroditism and Wilms' tumor|Denys Drash syndrome|nephropathy, Wilms tumor, and genital anomalies|Wilms tumor and pseudohermaphroditism|nephrotic syndrome type 4|Wilms tumor and pseudo- or true hermaphroditism|Drash syndrome|Denys-Drash syndrome; DDS|DDS|Denys-Drash syndrome ordo_disease MONDO:0008681 WAGR syndrome biolink:Disease mondo UMLS:C0206115|MESH:D017624|OMIM:194072|ICD10:Q87.8|GARD:0005528|Orphanet:893|GARD:0001732|NCIT:C3718|UMLS:C2931803|DOID:14515|SCTID:715215007 WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. NCIT:C3718|MESH:C538295|SNOMEDCT:715215007|UMLS:C0206115|http://identifiers.org/omim/194072|DOID:14515|ORPHA:893|UMLS:C2931803|MESH:D017624 http://purl.obolibrary.org/obo/MONDO_0008681 Del(11)(p13)|Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome; WAGR|11p partial monosomy syndrome|Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome|11p deletion|WAGR syndrome|deletion 11p|deletion 11p13|chromosome 11P13 deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome|Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome|11p monosomy|monosomy 11p|Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome|monosomy 11p13|Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome|partial monosomy 11p|chromosome 11p deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome|Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; WAGR|AGR triad|WAGR|chromosome 11p13 deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome|chromosome 11p deletion|WAGR Complex|11p deletion syndrome ordo_malformation_syndrome|gard_rare MONDO:0008680 Wilms tumor 2 biolink:Disease mondo OMIM:194071|MESH:C536853|GARD:0008559 http://identifiers.org/omim/194071|MESH:C536853 http://purl.obolibrary.org/obo/MONDO_0008680 Wilms tumor 2|Wilms tumor type 2|familial Wilms tumor 2|FWT2|WT2|Wilms tumor 2; WT2 gard_rare GO:0043504 mitochondrial DNA repair biolink:OntologyClass mondo The process of restoring mitochondrial DNA after damage. http://purl.obolibrary.org/obo/GO_0043504 HGNC:1190 NPAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1190 MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 biolink:Disease mondo OMIM:619065 http://identifiers.org/omim/619065 http://purl.obolibrary.org/obo/MONDO_0033656 MC4DN21 MONDO:0021634 epithelial skin neoplasm biolink:Disease mondo UMLS:C0345976|NCIT:C7342 A epithelial neoplasm that involves the zone of skin. UMLS:C0345976|NCIT:C7342 http://purl.obolibrary.org/obo/MONDO_0021634 epithelial skin neoplasm|zone of skin epithelial neoplasm|epithelial skin tumor|skin epithelium neoplasm|skin epithelium tumor MONDO:0021635 neurocristopathy biolink:Disease mondo That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. http://purl.obolibrary.org/obo/MONDO_0021635 disorder of neural crest cell development|neural crest cell development disease|disorder of neural crest cell development|disorder of neural crest development MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 biolink:Disease mondo OMIM:619064 http://identifiers.org/omim/619064 http://purl.obolibrary.org/obo/MONDO_0033655 MC4DN20 MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 biolink:Disease mondo OMIM:619063 http://identifiers.org/omim/619063 http://purl.obolibrary.org/obo/MONDO_0033654 MC4DN19 MONDO:0021636 astrocytic tumor biolink:Disease mondo Orphanet:94|DOID:3069|MedDRA:10003571|NCIT:C6958|EFO:0000272 A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma. DOID:3069|MEDDRA:10003571|NCIT:C6958|ORPHA:94 http://purl.obolibrary.org/obo/MONDO_0021636 astrocytoma of cerebrum|cerebral astrocytoma|astrocytoma of brain|astrocytoma|astrocytic neoplasm|Astroglioma|astroglioma|astrocytoma, no ICD-O subtype|astrocytic tumor ordo_group_of_disorders HGNC:18368 PADI4 biolink:OntologyClass mondo http://identifiers.org/hgnc/18368 MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 biolink:Disease mondo OMIM:619062 http://identifiers.org/omim/619062 http://purl.obolibrary.org/obo/MONDO_0033653 MC4DN18 MONDO:0021637 low grade glioma biolink:Disease mondo NCIT:C132067|UMLS:C1997217 A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma. NCIT:C132067|UMLS:C1997217 http://purl.obolibrary.org/obo/MONDO_0021637 low-grade glioma|low grade glioma HP:0025085 Bloody diarrhea biolink:PhenotypicFeature mondo Passage of many stools containing blood. http://purl.obolibrary.org/obo/HP_0025085 Bloody bowel movement|Bloody stool|Bloody diarrhoea|Blood in stool|Bloody diarrhea MONDO:0021638 low grade astrocytic tumor biolink:Disease mondo UMLS:C3898569|NCIT:C116342 A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II). NCIT:C116342|UMLS:C3898569 http://purl.obolibrary.org/obo/MONDO_0021638 low-grade astrocytic tumor|low grade astrocytic neoplasm|low grade astrocytic tumor|low-grade astrocytic neoplasm MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 biolink:Disease mondo OMIM:619061 http://identifiers.org/omim/619061 http://purl.obolibrary.org/obo/MONDO_0033652 MC4DN17 MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 biolink:Disease mondo OMIM:619060 http://identifiers.org/omim/619060 http://purl.obolibrary.org/obo/MONDO_0033651 MC4DN16 MONDO:0021639 grade II glioma biolink:Disease mondo UMLS:C4330050|NCIT:C132505 A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma. NCIT:C132505|UMLS:C4330050 http://purl.obolibrary.org/obo/MONDO_0021639 grade II glioma|WHO grade II glioma MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 biolink:Disease mondo OMIM:619059 http://identifiers.org/omim/619059 http://purl.obolibrary.org/obo/MONDO_0033650 MC4DN15 HGNC:18365 IFNL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/18365 MONDO:0021630 lipoma of face biolink:Disease mondo SCTID:93159009|ICD9:214.0 A lipoma that involves the face. SNOMEDCT:93159009 http://purl.obolibrary.org/obo/MONDO_0021630 face lipoma MONDO:0008659 transcobalamin I deficiency biolink:Disease mondo UMLS:C0342700|GARD:0005239|ICD10:E53.8|MESH:C562798|SCTID:237933007|OMIM:193090|Orphanet:2967 SNOMEDCT:237933007|http://identifiers.org/omim/193090|UMLS:C0342700|MESH:C562798|ORPHA:2967 http://purl.obolibrary.org/obo/MONDO_0008659 transcobalamin 1 deficiency with lactoferrin deficiency|Haptocorrin deficiency|cobalamin Pseudodeficiency due to transcobalamin deficiency|cobalamin R Binder Protein deficiency|TCI deficiency|transcobalamin 1 deficiency|transcobalamin I deficiency|transcobalamin-1 deficiency|Tcn1 deficiency|R Binder deficiency with lactoferrin deficiency ordo_disease|gard_rare MONDO:0021631 brain astrocytoma biolink:Disease mondo NCIT:C60780|SCTID:254938000|UMLS:C3695127 A astrocytoma (excluding glioblastoma) that involves the brain. SNOMEDCT:254938000|NCIT:C60780|UMLS:C3695127 http://purl.obolibrary.org/obo/MONDO_0021631 brain astrocytoma|astrocytoma (excluding glioblastoma) of brain|brain astrocytoma (excluding glioblastoma) FOODON:03414466 tunicate biolink:OntologyClass mondo Tunicates, previously known as *Urochordata* or urochordates, are members of the *Tunicata*, a subphylum of the phylum *Chordata*. They are marine filter feeders with a saclike morphology. In their respiration and feeding they take in water through an incurrent (or inhalant) siphon and expel the filtered water through an excurrent (or exhalant) siphon. Most adult tunicates are sessile and attached to rocks or similarly suitable surfaces on the ocean floor; others such as salps, doliolids and pyrosomes swim in the pelagic zone as adults. Various species are commonly known as sea squirts or sea pork. http://purl.obolibrary.org/obo/FOODON_03414466 MONDO:0021632 primary brain neoplasm biolink:Disease mondo NCIT:C4952|ONCOTREE:PBT NCIT:C4952 http://purl.obolibrary.org/obo/MONDO_0021632 primary brain neoplasm|primary brain tumor MONDO:0008658 virus Rd114 RNA Complementarity biolink:Disease mondo OMIM:193070 http://identifiers.org/omim/193070 http://purl.obolibrary.org/obo/MONDO_0008658 virus Rd114 RNA Complementarity MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy biolink:Disease mondo OMIM:619072 http://identifiers.org/omim/619072 http://purl.obolibrary.org/obo/MONDO_0033658 NEDSEBA MONDO:0008657 obsolete vibratory angioedema biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008657 MONDO:0021633 cerebral astrocytoma biolink:Disease mondo NCIT:C4951|SCTID:99131000119108 An astrocytoma that arises from the cerebral hemispheres. NCIT:C4951|SNOMEDCT:99131000119108 http://purl.obolibrary.org/obo/MONDO_0021633 cerebral hemispheric astrocytoma|astrocytoma of cerebrum|astrocytoma of cerebral hemispheres|astrocytoma of the cerebrum|astrocytoma of the cerebral hemispheres|astrocytoma (excluding glioblastoma) of cerebral hemisphere|cerebral astrocytoma|cerebral hemisphere astrocytoma (excluding glioblastoma) MONDO:0033657 leukodystrophy, hypomyelinating, 20 biolink:Disease mondo OMIM:619071 http://identifiers.org/omim/619071 http://purl.obolibrary.org/obo/MONDO_0033657 HLD20 MONDO:0008656 benign paroxysmal positional nystagmus biolink:Disease mondo OMIM:193007|UMLS:C0155502|DOID:13941|COHD:81878|GARD:0005915|SCTID:111541001|ICD9:386.11 Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed. http://identifiers.org/omim/193007|DOID:13941|UMLS:C0155502|SNOMEDCT:111541001 http://purl.obolibrary.org/obo/MONDO_0008656 BRV|vertigo, benign recurrent; BRV|familial vestibulopathy|vertigo, benign recurrent, 1|BPPV|benign paroxysmal positional vertigo|vertigo, benign paroxysmal positional|vertigo, benign recurrent|vestibulopathy, familial|familial benign recurrent vertigo UBERON:0005291 embryonic tissue biolink:AnatomicalEntity mondo A portion of tissue that is part of an embryo. http://purl.obolibrary.org/obo/UBERON_0005291 developing tissue|portion of embryonic tissue MONDO:0008655 vestibulocochlear dysfunction, progressive biolink:Disease mondo MESH:C536346|GARD:0005489|OMIM:193005|UMLS:C2931176 UMLS:C2931176|MESH:C536346|http://identifiers.org/omim/193005 http://purl.obolibrary.org/obo/MONDO_0008655 vestibulocochlear dysfunction, progressive|familial progressive vestibulocochlear dysfunction gard_rare UBERON:0005290 myelencephalon biolink:AnatomicalEntity mondo The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. http://purl.obolibrary.org/obo/UBERON_0005290 myelencephalon (medulla oblongata) MONDO:0008654 NYS4 biolink:Disease mondo GARD:0009603|OMIM:193003|MESH:C537856 MESH:C537856|http://identifiers.org/omim/193003 http://purl.obolibrary.org/obo/MONDO_0008654 NYSTAGMUS 4, congenital, autosomal dominant; NYS4|NYSTAGMUS 4, congenital, autosomal dominant|NYS4|vestibulocerebellar disorder with predominant ocular signs MONDO:0008653 VUR1 biolink:Disease mondo OMIM:193000|UMLS:CN032731 UMLS:CN032731|http://identifiers.org/omim/193000 http://purl.obolibrary.org/obo/MONDO_0008653 vesicoureteral reflux 1; VUR1|VUR|vesicoureteral reflux 1|VUR1 MONDO:0008652 congenital vertical talus biolink:Disease mondo MESH:C536345|GARD:0005488|Orphanet:178382|SCTID:205082007|MedDRA:10066242|OMIM:192950|ICD10:Q66.8|ICD9:755.67 Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus. SNOMEDCT:205082007|http://identifiers.org/omim/192950|MEDDRA:10066242|ORPHA:178382|MESH:C536345|UMLS:C0240912 http://purl.obolibrary.org/obo/MONDO_0008652 vertical talus, congenital; CVT|congenital rocker-bottom foot|congenital convex pes valgus|CVT|pes valgus, congenital convex|rocker-bottom foot|rocker bottom foot|vertical talus|congenital convex foot|rocker-bottom foot deformity|vertical talus, congenital gard_rare|ordo_morphological_anomaly MONDO:0008651 vertebral hypoplasia with lumbar kyphosis biolink:Disease mondo UMLS:C1860463|OMIM:192900|MESH:C566002 http://identifiers.org/omim/192900|MESH:C566002|UMLS:C1860463 http://purl.obolibrary.org/obo/MONDO_0008651 vertebral hypoplasia with lumbar kyphosis MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome biolink:Disease mondo GARD:0002276|GARD:0005487|UMLS:C1860464|Orphanet:2064|OMIM:192800|MESH:C536344|ICD10:Q87.5|SCTID:724064004 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. http://identifiers.org/omim/192800|ORPHA:2064|SNOMEDCT:724064004|UMLS:C1860464|MESH:C536344 http://purl.obolibrary.org/obo/MONDO_0008650 vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis|congenital ptosis and posterior fusion of lumbosacral vertebrae|Faulk-Epstein-Jones syndrome|Faulk Epstein Jones syndrome|familial posterior lumbosacral vertebral fusion and eyelid ptosis|vertebral fusion posterior lumbosacral blepharoptosis gard_rare|ordo_malformation_syndrome UBERON:0005299 prepuce of clitoris biolink:AnatomicalEntity mondo A retractable double-layered fold of skin and mucous membrane that covers the clitoral glans. http://purl.obolibrary.org/obo/UBERON_0005299 preputium clitoridis|prepuce of the clitoris|prepuce of female|clitoral prepuce|clitoris prepuce|clitoral hood UBERON:0005298 skin of clitoris biolink:AnatomicalEntity mondo A zone of skin that is part of a clitoris [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005298 clitoris skin UBERON:0005297 testis sex cord biolink:AnatomicalEntity mondo The testis cords are precursors to the rete testis. They play several different roles in the development of the male genitals[WP]. http://purl.obolibrary.org/obo/UBERON_0005297 testis cord|primary sex cord|testis primitive sex cord|testis primary sex cords UBERON:0005296 ovary sex cord biolink:AnatomicalEntity mondo structures that develop from sex cords in the female. After further development they become the ovarian follicles. http://purl.obolibrary.org/obo/UBERON_0005296 cortical cord|secondary cord|ovigerous cord|ovigerous cords|cortical sex cord|ovary primitive sex cord NCBITaxon:55746 Panagrolaimoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_55746 UBERON:0005295 sex cord biolink:AnatomicalEntity mondo Cordlike masses of epithelial tissue that invaginate from germinal epithelium of the gonad and give rise to seminiferous tubules and rete testes in the male, and primary ovarian follicles and rete ovarii in the female. http://purl.obolibrary.org/obo/UBERON_0005295 gonadal cord|genital cord|gonad cord|primitive sex cord UBERON:0005294 gonadal ridge biolink:AnatomicalEntity mondo the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary http://purl.obolibrary.org/obo/UBERON_0005294 indifferent gonadal ridge|genital cord|genital ridge|gonadal ridge|crista gonadalis UBERON:0005292 extraembryonic tissue biolink:AnatomicalEntity mondo Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. http://purl.obolibrary.org/obo/UBERON_0005292 extra-embryonic tissue MONDO:0033667 Delpire-McNeill syndrome biolink:Disease mondo OMIM:619083 http://identifiers.org/omim/619083 http://purl.obolibrary.org/obo/MONDO_0033667 DELMNES HGNC:18337 PADI3 biolink:OntologyClass mondo http://identifiers.org/hgnc/18337 MONDO:0033665 deafness, autosomal dominant 78 biolink:Disease mondo OMIM:619081 http://identifiers.org/omim/619081 http://purl.obolibrary.org/obo/MONDO_0033665 DFNA78 MONDO:0033664 Kilquist syndrome biolink:Disease mondo OMIM:619080 An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis. http://identifiers.org/omim/619080 http://purl.obolibrary.org/obo/MONDO_0033664 KILQS MONDO:0021627 eyelid capillary hemangioma biolink:Disease mondo SCTID:231828003|NCIT:C4357|UMLS:C0339110 A capillary hemangioma arising from the eyelid. SNOMEDCT:231828003|NCIT:C4357|UMLS:C0339110 http://purl.obolibrary.org/obo/MONDO_0021627 capillary angioma of the eyelid|capillary hemangioma of eyelid|capillary hemangioma of the eyelid|capillary hemangioma of the lid|capillary hemangioma of lid|eyelid capillary angioma|capillary angioma of the lid|capillary angioma of lid|capillary angioma of eyelid|eyelid capillary hemangioma MONDO:0021628 obsolete lacrimal system disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021628 MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy biolink:Disease mondo OMIM:619076 http://identifiers.org/omim/619076 http://purl.obolibrary.org/obo/MONDO_0033662 NEDMISB MONDO:0021629 uterine ligament neoplasm biolink:Disease mondo UMLS:C1519870|NCIT:C40133 A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma. UMLS:C1519870|NCIT:C40133 http://purl.obolibrary.org/obo/MONDO_0021629 uterine ligament neoplasm|tumor of uterine ligament|neoplasm of the uterine ligament|neoplasm of uterine ligament|uterine ligament tumor|uterine ligament neoplasm (disease)|tumor of the uterine ligament HGNC:18340 WDR19 biolink:OntologyClass mondo http://identifiers.org/hgnc/18340 MONDO:0006008 vestibular neuronitis biolink:Disease mondo SCTID:186738001|UMLS:C0751908|ICD9:078.81|MESH:D020338|DOID:12683|ICD10:H81.2|ICD10:A88.1|ICD9:386.12|ICD10:H81.20|EFO:0007537 Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304) UMLS:C0751908|DOID:12683|SNOMEDCT:186738001|MESH:D020338 http://purl.obolibrary.org/obo/MONDO_0006008 vestibular neuritis|epidemic neurolabyrinthitis MONDO:0006009 viral encephalitis biolink:Disease mondo SCTID:34476008|MedDRA:10058805|Orphanet:98252|UMLS:C0243010|COHD:372547|DOID:646|NCIT:C35302|EFO:0007538 Encephalitis resulting from viral infection. SNOMEDCT:34476008|UMLS:C0596773|MEDDRA:10058805|UMLS:C0243010|NCIT:C35302|ORPHA:98252|DOID:646 http://purl.obolibrary.org/obo/MONDO_0006009 epidemic encephalitis|Viruses encephalitis|Viruses caused encephalitis|viral encephalitis MONDO:0006006 verrucous carcinoma biolink:Disease mondo EFO:0007535|SCTID:403904009|NCIT:C3781|UMLS:C0206706|MESH:D018289|DOID:3737|ICDO:8051/3|ICD9:199.1 A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot. UMLS:C0206706|SNOMEDCT:403904009|MESH:D018289|DOID:3737|NCIT:C3781 http://purl.obolibrary.org/obo/MONDO_0006006 verrucous epidermoid cell carcinoma|verrucous carcinoma|verrucous epidermoid carcinoma|verrucous carcinoma NOS (morphologic abnormality)|verrucous squamous carcinoma|verrucous squamous cell carcinoma|warty carcinoma MONDO:0033669 Noonan syndrome 13 biolink:Disease mondo OMIM:619087 http://identifiers.org/omim/619087 http://purl.obolibrary.org/obo/MONDO_0033669 NS13 MONDO:0008669 vulvovaginitis, allergic seminal biolink:Disease mondo OMIM:193450|UMLS:C1860357|MESH:C565993 MESH:C565993|http://identifiers.org/omim/193450|UMLS:C1860357 http://purl.obolibrary.org/obo/MONDO_0008669 vulvovaginitis, allergic seminal MONDO:0033668 deafness, autosomal dominant 79 biolink:Disease mondo OMIM:619086 http://identifiers.org/omim/619086 http://purl.obolibrary.org/obo/MONDO_0033668 DFNA79 MONDO:0006007 vesicoureteral reflux (disease) biolink:Disease mondo DOID:9620|ICD10:N13.70|ICD10:N13.7|SCTID:197811007|MESH:D014718|HP:0000076|OMIMPS:193000|ICD9:593.7|EFO:0007536|UMLS:C0042580 Abnormal flow of urine from the urinary bladder back into the ureters. SNOMEDCT:197811007|NCIT:C84467|DOID:9620|MESH:D014718|UMLS:C0042580 http://purl.obolibrary.org/obo/MONDO_0006007 vesicoureteral reflux|vesico-ureteral reflux MONDO:0008668 von Willebrand disease 1 biolink:Disease mondo DOID:0060573|ICD10:D68.0|Orphanet:166078|NCIT:C131685|SCTID:128106003|OMIM:193400|MESH:D056725|UMLS:C1264039 Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF). http://identifiers.org/omim/193400|NCIT:C131685|DOID:0060573|ORPHA:166078|MESH:D056725|SNOMEDCT:128106003|UMLS:C1264039 http://purl.obolibrary.org/obo/MONDO_0008668 VON WILLEBRAND disease, type 1; VWD1|von Willebrand's disease type 1|von willebrand's disease 1|VWD type 1|von Willebrand disease type I|Von Willebrand disease, type 1|VON WILLEBRAND disease, type 1|VWD1|von Willebrand disease type 1|VWD, type 1 ordo_clinical_subtype UBERON:0017261 intertarsal sesamoid biolink:AnatomicalEntity mondo A sesamoid element that is part of a tarsal skeleton. http://purl.obolibrary.org/obo/UBERON_0017261 tarsal sesamoid MONDO:0006004 vasomotor rhinitis biolink:Disease mondo NCIT:C34988|EFO:0007533|COHD:4305500|MESH:D012223|ICD10:J30.0|SCTID:8229003|UMLS:C0035460|DOID:4730 Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose. UMLS:C0035460|SNOMEDCT:8229003|MESH:D012223|NCIT:C34988|DOID:4730 http://purl.obolibrary.org/obo/MONDO_0006004 MONDO:0008667 von Hippel-Lindau disease biolink:Disease mondo UMLS:C0019562|MESH:D006623|MedDRA:10047716|SCTID:46659004|Orphanet:892|ICD10:Q85.8|DOID:14175|OMIM:193300|ICD9:759.6|GARD:0007855|NCIT:C3105 Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. UMLS:C0019562|MESH:D006623|SNOMEDCT:46659004|NCIT:C3105|DOID:14175|MEDDRA:10047716|ORPHA:892|http://identifiers.org/omim/193300 http://purl.obolibrary.org/obo/MONDO_0008667 Von Hippel-Lindau syndrome, Modifiers of|Von Hippel Lindau disease|von Hippel-Lindau syndrome|VON Hippel-Lindau syndrome|familial cerebelloretinal angiomatosis|Lindau disease|VHL|Von Hippel-Lindau syndrome|VON Hippel-Lindau syndrome; VHL|VHL syndrome|Hippel Lindau syndrome|Von Hippel-Lindau syndrome (VHL)|cerebroretinal angiomatosis ordo_disease|clingen|gard_rare MONDO:0006005 Venezuelan equine encephalitis biolink:Disease mondo MESH:D004685|EFO:0007534|NCIT:C35121|GARD:0006355|SCTID:417067005|DOID:9584|UMLS:C0014078|ICD9:066.2|ICD10:A92.2 A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting. DOID:9584|MESH:D004685|SNOMEDCT:417067005|NCIT:C35121|UMLS:C0014078 http://purl.obolibrary.org/obo/MONDO_0006005 Venezuelan equine encephalitis virus infectious disease|Venezuelan equine encephalitis virus disease or disorder|Venezuelan equine encephalitis virus caused disease or disorder|Venezuelan equine fever gard_rare MONDO:0008666 volvulus of midgut biolink:Disease mondo SCTID:458422009|NCIT:C98961|OMIM:193250|MESH:C562456 A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. MESH:C562456|NCIT:C98961|SNOMEDCT:458422009|http://identifiers.org/omim/193250 http://purl.obolibrary.org/obo/MONDO_0008666 congenital malrotation of intestine|volvulus of midgut|intestinal malrotation|intestinal malrotation, familial MONDO:0008665 ptosis-vocal cord paralysis syndrome biolink:Disease mondo OMIM:193240|UMLS:C1860403|Orphanet:2997|MESH:C536923|GARD:0000427 Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. ORPHA:2997|UMLS:C1860403|http://identifiers.org/omim/193240|MESH:C536923 http://purl.obolibrary.org/obo/MONDO_0008665 congenital bilateral recurrent nerve paralysis and ptosis|ptosis vocal cord paralysis|tucker syndrome|vocal cord paralysis and ptosis ordo_malformation_syndrome MONDO:0006002 urogenital tuberculosis biolink:Disease mondo ICD9:016.90|EFO:0007531|ICD9:016.92|ICD9:016|ICD10:A18.1|DOID:2149|MESH:D014401|COHD:73686|ICD10:A18.10|UMLS:C0041333|ICD9:016.9|SCTID:4445009 A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. SNOMEDCT:4445009|MESH:D014401|UMLS:C0041333|DOID:2149 http://purl.obolibrary.org/obo/MONDO_0006002 genitourinary system tuberculosis|genitourinary tuberculosis MONDO:0006003 uterine corpus cancer biolink:Disease mondo EFO:0007532|ICD10:C54|ICD9:182|NCIT:C61574|SCTID:371972005|ICD10:C54.9|DOID:9460|COHD:4156113 A malignant neoplasm involving the body of uterus. NCIT:C61574|DOID:9460|SNOMEDCT:371972005 http://purl.obolibrary.org/obo/MONDO_0006003 malignant body of uterus neoplasm|endometrial cancer|cancer of body of uterus|corpus uteri cancer|cancer of the corpus uteri|uterine corpus cancer|body of uterus cancer|malignant neoplasm of body of uterus|uterine (including endometrial) cancer MONDO:0008664 autosomal dominant neovascular inflammatory vitreoretinopathy biolink:Disease mondo ICD10:H35.2|Orphanet:329211|SCTID:232016005|OMIM:193235|ICD9:362.29 Autosomal dominant neovascular inflammatory vitreoretinopathy is a rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness. ORPHA:329211|http://identifiers.org/omim/193235|SNOMEDCT:232016005 http://purl.obolibrary.org/obo/MONDO_0008664 VRNI|vitreoretinopathy, neovascular inflammatory, autosomal dominant|proliferative vitreoretinopathy|vitreoretinopathy, neovascular inflammatory; VRNI|ADNIV|vitreoretinopathy, neovascular inflammatory ordo_disease MONDO:0006000 tuberculous peritonitis biolink:Disease mondo MESH:D014395|ICD9:014.0|DOID:9801|ICD9:014.00|COHD:194268|ICD10:A18.31|EFO:0007529|ICD9:014.01|UMLS:C0041325|SCTID:44572005 A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia. DOID:9801|MESH:D014395|UMLS:C0041325|SNOMEDCT:44572005 http://purl.obolibrary.org/obo/MONDO_0006000 Mycobacterium tuberculosis peritonitis|Mycobacterium tuberculosis caused peritonitis MONDO:0008663 snowflake vitreoretinal degeneration biolink:Disease mondo OMIM:193230|UMLS:C1860405|Orphanet:91496|ICD10:H35.5|MESH:C536677|GARD:0009706 Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. ORPHA:91496|UMLS:C1860405|MESH:C536677|http://identifiers.org/omim/193230 http://purl.obolibrary.org/obo/MONDO_0008663 snowflake vitreoretinal degeneration|vitreoretinal degeneration, snowflake type|snowflake degeneration in hereditary vitreoretinal degeneration|vitreoretinal degeneration, snowflake type; SVD|SVD ordo_disease|gard_rare MONDO:0008662 autosomal dominant vitreoretinochoroidopathy biolink:Disease mondo ICD10:H35.5|UMLS:C3888099|GARD:0005507|SCTID:711162004|MESH:C536352|OMIM:193220|Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees. ORPHA:3086|UMLS:C3888099|MESH:C536352|SNOMEDCT:711162004|http://identifiers.org/omim/193220 http://purl.obolibrary.org/obo/MONDO_0008662 vitreoretinochoroidopathy, autosomal dominant|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma|VRCP|vitreoretinochoroidopathy dominant|vitreoretinochoroidopathy; VRCP|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract|ADVIRC|VRCP autosomal dominant|vitreoretinochoroidopathy ordo_disease MONDO:0006001 urinary schistosomiasis biolink:Disease mondo DOID:1394|EFO:0007530|UMLS:C1704430|NCIT:C39294|MESH:D012553|ICD9:120.0|COHD:436350|UMLS:C0276926|SCTID:236706006 A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time. UMLS:C1704430|UMLS:C0276926|DOID:1394|NCIT:C39294|SNOMEDCT:236706006|MESH:D012553 http://purl.obolibrary.org/obo/MONDO_0006001 schistosomiasis of bladder|schistosomiasis due to Schistosoma haematobium|Schistosoma haematobium (& vesical schistosomiasis)|Schistosoma haematobium|urinary schistosomiasis|Schistosoma hematobium infectious disease|Schistosoma haematobium infection|cystitis with bilharziasis|Schistosoma hematobium infection|urinary bladder schistosomiasis|bladder schistosomiasis|vesical schistosomiasis MONDO:0008661 vitiligo biolink:Disease mondo UMLS:C0042900|DOID:12306|EFO:0004208|NCIT:C26915|OMIM:193200|ICD9:709.01|MESH:D014820|ICD10:L80|COHD:138502 Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. NCIT:C26915|MESH:D014820|UMLS:C0042900|http://identifiers.org/omim/193200|DOID:12306 http://purl.obolibrary.org/obo/MONDO_0008661 vitiligo-associated multiple autoimmune disease susceptibility 6|VAMAS6|vitiligo-associated multiple autoimmune disease susceptibility 6; VAMAS6 MONDO:0008660 autosomal dominant hypophosphatemic rickets biolink:Disease mondo DOID:0050948|OMIM:193100|Orphanet:89937|ICD10:E83.3|UMLS:C0342642|MESH:C562791|SCTID:237889002 Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. MESH:C562791|SNOMEDCT:237889002|ORPHA:89937|http://identifiers.org/omim/193100|UMLS:C0342642|DOID:0050948 http://purl.obolibrary.org/obo/MONDO_0008660 autosomal dominant hereditary hypophosphatemic rickets|hypophosphatemic rickets, autosomal dominant; ADHR|ADHR|hereditary hypophosphatemic rickets, autosomal dominant|vitamin D-resistant rickets, autosomal dominant|autosomal dominant hypophosphatemia|hypophosphatemia, autosomal dominant|hypophosphatemic rickets, autosomal dominant ordo_disease UBERON:0005288 tela choroidea of third ventricle biolink:AnatomicalEntity mondo Tela chorioidea that lines the third ventricle[ZFA]. The part of the choroid plexus in relation to the body of the ventricle forms the vascular fringed margin of a triangular process of pia mater, named the tela chorioidea of the third ventricle, and projects from under cover of the lateral edge of the fornix. Blood is supplied by branches from the superior cerebellar artery[WP]. http://purl.obolibrary.org/obo/UBERON_0005288 tela choroidea ventriculi tertii|tela chorioidea third ventricle|tela chorioidea of third ventricle|choroid membrane of third ventricle|tela choroidea ventriculi tertii|tela choroidea third ventricle MONDO:0033670 deafness, autosomal recessive 116 biolink:Disease mondo OMIM:619093 http://identifiers.org/omim/619093 http://purl.obolibrary.org/obo/MONDO_0033670 DFNB116 UBERON:0005287 tela choroidea of fourth ventricle biolink:AnatomicalEntity mondo Tela chorioidea that lines the fourth ventricle[ZFA]. The tela chorioidea of the fourth ventricle is the name applied to the triangular fold of pia mater which is carried upward between the cerebellum and the medulla oblongata. It consists of two layers, which are continuous with each other in front, and are more or less adherent throughout: The posterior layer covers the antero-inferior surface of the cerebellum. The anterior layer is applied to the structures which form the lower part of the roof of the ventricle, and is continuous inferiorly with the pia mater on the inferior peduncles and closed part of the medulla[WP]. http://purl.obolibrary.org/obo/UBERON_0005287 tela choroidea|tela choroidea of fourth ventricle|tela choroidea fourth ventricle|choroid membrane of fourth ventricle|tela choroidea ventriculi quarti|choroid membrane|tela choroidea ventriculi quarti|tela chorioidea fourth ventricle UBERON:0005283 tela choroidea biolink:AnatomicalEntity mondo A structure found in the walls of the ventricles of the brain, consisting of part of the meninges (pia mater in mammals) plus ependyma[cjm]. http://purl.obolibrary.org/obo/UBERON_0005283 tela chorioidea UBERON:0005282 ventricular system of brain biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005282 brain ventricular system UBERON:0005281 ventricular system of central nervous system biolink:AnatomicalEntity mondo A set of structures containing cerebrospinal fluid in the brain. It is continuous with the central canal of the spinal cord[WP]. http://purl.obolibrary.org/obo/UBERON_0005281 ventricular system|ventricular system of neuraxis|ventriculi cerebri|ventricle system|CNS ventricular system HGNC:18348 TICAM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18348 MONDO:0031013 autoimmune optic neuritis biolink:Disease mondo DOID:0040089 An autoimmune form of optic neuritis. DOID:0040089 http://purl.obolibrary.org/obo/MONDO_0031013 MONDO:0031014 autoimmune gastritis biolink:Disease mondo NCIT:C95752|DOID:0040090 Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma. DOID:0040090|NCIT:C95752 http://purl.obolibrary.org/obo/MONDO_0031014 autoimmune gastritis (disease) MONDO:0031012 autoimmune uveitis biolink:Disease mondo DOID:0040088 An autoimmune form of uveitis (disease). DOID:0040088 http://purl.obolibrary.org/obo/MONDO_0031012 autoimmune uveitis (disease) MONDO:0033673 spermatogenic failure 46 biolink:Disease mondo OMIM:619095 http://identifiers.org/omim/619095 http://purl.obolibrary.org/obo/MONDO_0033673 SPGF46 MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome biolink:Disease mondo Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap. ORPHA:50817 http://purl.obolibrary.org/obo/MONDO_0033672 ordo_disease MONDO:0033671 spermatogenic failure 45 biolink:Disease mondo OMIM:619094 http://identifiers.org/omim/619094 http://purl.obolibrary.org/obo/MONDO_0033671 SPGF45 UBERON:0005289 tela choroidea of telencephalic ventricle biolink:AnatomicalEntity mondo Tela chorioidea that lines the telencephalic ventricle. http://purl.obolibrary.org/obo/UBERON_0005289 tela choroidea of lateral ventricle|tela choroidea telencephalic ventricle|tela chorioidea telencephalic ventricle|tela choroidea (ventriculi lateralis)|tela chorioidea of lateral ventricle|tela chorioidea of telencephalic ventricle MONDO:0018040 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells biolink:Disease mondo Orphanet:331240 ORPHA:331240 http://purl.obolibrary.org/obo/MONDO_0018040 MONDO:0018042 immunodeficiency syndrome with abnormal pigmentation biolink:Disease mondo UMLS:CN204283|Orphanet:331249 ORPHA:331249|UMLS:CN204283 http://purl.obolibrary.org/obo/MONDO_0018042 immunodeficiency syndrome with hypopigmentation ordo_group_of_disorders MONDO:0018041 other immunodeficiency syndrome with predominantly antibody defects biolink:Disease mondo Orphanet:331244|ICD10:D80.8|UMLS:CN204282 ORPHA:331244|UMLS:CN204282 http://purl.obolibrary.org/obo/MONDO_0018041 obsoletion_candidate|ordo_group_of_disorders MONDO:0021697 chlamydia infectious disease biolink:Disease mondo MESH:D023521|MESH:D002690|MONDO:0006697|EFO:1000863 Infections with bacteria of the genus CHLAMYDIA. MESH:D023521|MESH:D002690 http://purl.obolibrary.org/obo/MONDO_0021697 infections, Chlamydia|infection, Chlamydia|Chlamydia infection|chlamydia infectious disease|Chlamydophila caused disease or disorder|Chlamydia infectious disease|Chlamydia disease or disorder|Chlamydia caused disease or disorder|Chlamydophila disease or disorder MONDO:0021698 alcohol-related disorders biolink:Disease mondo MESH:D019973|SCTID:29212009 Disorders related to or resulting from abuse or mis-use of alcohol. MESH:D019973|SNOMEDCT:29212009 http://purl.obolibrary.org/obo/MONDO_0021698 disorders, alcohol-related|alcohol-related disorder|alcohol related disorders|disorder, alcohol-related MONDO:0021699 alcohol-induced disorders biolink:Disease mondo SCTID:719848005|MESH:D020751|UMLS:C0236970 Disorders stemming from the misuse and abuse of alcohol. UMLS:C0236970|MESH:D020751|SNOMEDCT:719848005 http://purl.obolibrary.org/obo/MONDO_0021699 alcohol induced disorders|alcohol-induced disorder MONDO:0006059 nasal cavity squamous cell carcinoma biolink:Disease mondo UMLS:C0280333|EFO:1000057|NCIT:C8192|DOID:5515 A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass. NCIT:C8192|DOID:5515|UMLS:C0280333 http://purl.obolibrary.org/obo/MONDO_0006059 squamous cell carcinoma of nasal cavity|squamous cell carcinoma of the nasal cavity|nasal cavity squamous cell carcinoma MONDO:0006057 obsolete thymic lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006057 MONDO:0006058 Wilms tumor biolink:Disease mondo UMLS:CN244940|EFO:1000056|OMIMPS:194070|MESH:D009396|NCIT:C3267|GARD:0007892 An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. UMLS:CN244940|MESH:D009396|NCIT:C3267 http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor (nephroblastoma)|Wilms' tumor|Wilms tumor MONDO:0006055 sex cord-stromal tumor biolink:Disease mondo UMLS:C0206724|UMLS:C1515289|EFO:1000052|DOID:192|EFO:0007483|NCIT:C3794|ICDO:8590/1 A neoplasm involving a sex cord. NCIT:C3794|DOID:192|UMLS:C0206724|UMLS:C1515289 http://purl.obolibrary.org/obo/MONDO_0006055 tumor of sex cord|sex cord-gonadal stromal tumor|sex cord neoplasm|Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)|specialized gonadal tumor (qualifier value)|specialized gonadal neoplasm NOS (morphologic abnormality)|Sex cord-stromal neoplasm|malignant testicular sex cord-stromal tumor|Sex cord-stromal tumor, no ICD-O subtype|sex cord-stromal tumor|neoplasm of sex cord|sex cord tumor|specialized gonadal neoplasm (morphologic abnormality)|Sex cord stromal tumour|specialized gonadal tumor|Sex cord-stromal tumor|specialized gonadal neoplasm MONDO:0006056 squamous cell breast carcinoma biolink:Disease mondo DOID:5514|ONCOTREE:MSCC|UMLS:C1336079|EFO:1000053|NCIT:C5177 A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells. DOID:5514|UMLS:C1336079|NCIT:C5177 http://purl.obolibrary.org/obo/MONDO_0006056 squamous cell breast carcinoma|breast primary squamous cell carcinoma|primary squamous cell breast carcinoma|squamous breast carcinoma|primary squamous cell carcinoma of the breast|squamous carcinoma of breast|primary squamous cell carcinoma of breast|squamous carcinoma of the breast|squamous cell carcinoma of breast|squamous cell carcinoma of the breast|breast squamous cell carcinoma|metaplastic squamous cell carcinoma|scc of breast|scc of the breast MONDO:0006053 renal leiomyoma biolink:Disease mondo EFO:1000050 A leiomyoma that involves the kidney. http://purl.obolibrary.org/obo/MONDO_0006053 kidney leiomyoma|leiomyoma of kidney MONDO:0006054 reproductive system neoplasm biolink:Disease mondo NCIT:C3674|UMLS:C0178830|EFO:1000051 A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. UMLS:C0178830|NCIT:C3674 http://purl.obolibrary.org/obo/MONDO_0006054 reproductive system neoplasm (disease)|tumor of reproductive system|neoplasm of the reproductive system|reproductive system neoplasm|tumor of the reproductive system|neoplasm of reproductive system|reproductive system tumor|reproductive tumor|reproductive neoplasm MONDO:0006051 postweaning multisystemic wasting syndrome biolink:Disease mondo EFO:1000048 Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus. http://purl.obolibrary.org/obo/MONDO_0006051 MONDO:0006052 pulmonary tuberculosis biolink:Disease mondo MESH:D014397|ICD9:011.86|ICD9:011.96|ICD9:011.85|DOID:2957|ICD9:011.84|ICD9:011.92|ICD9:011.81|ICD9:011.80|ICD10:A15.0|SCTID:154283005|ICD9:011.90|ICD10:A15|ICD9:011|UMLS:C0041327|NCIT:C26899|ICD9:011.16|ICD9:011.9|EFO:1000049|COHD:253954 A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss. UMLS:C0041327|DOID:2957|NCIT:C26899|SNOMEDCT:154283005|MESH:D014397 http://purl.obolibrary.org/obo/MONDO_0006052 lung TB|pulmonary TB|lung tuberculosis MONDO:0006050 pleomorphic breast carcinoma biolink:Disease mondo NCIT:C5161|EFO:1000047|UMLS:C1514169|UMLS:C2211689 A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate. UMLS:C2211689|NCIT:C5161|UMLS:C1514169 http://purl.obolibrary.org/obo/MONDO_0006050 anaplastic breast carcinoma HGNC:18318 ASXL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18318 MONDO:0018048 heparin-induced thrombocytopenia (disease) biolink:Disease mondo COHD:433749|ICD9:289.84|MedDRA:10062506|ICD10:D69.5|GARD:0002650|Orphanet:3325|HP:0011874|UMLS:C0272285|SCTID:73397007 Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis. MEDDRA:10062506|SNOMEDCT:73397007|UMLS:C0272285|ORPHA:3325 http://purl.obolibrary.org/obo/MONDO_0018048 HIT|HAT|heparin-associated thrombocytopenia|heparin-induced thrombocytopenia type 2|heparin-induced thrombocytopenia ordo_disease MONDO:0018047 familial thrombomodulin anomalies biolink:Disease mondo UMLS:C2931365|GARD:0005195|ICD10:D68.8|Orphanet:3324|MESH:C536900|HGNC:11784 MESH:C536900|UMLS:C2931365|ORPHA:3324 http://purl.obolibrary.org/obo/MONDO_0018047 thrombomodulin anomalies, familial ordo_disease|gard_rare MONDO:0018049 obsolete Kaposi sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018049 HGNC:21957 KCTD7 biolink:OntologyClass mondo http://identifiers.org/hgnc/21957 MONDO:0018044 idiopathic hypersomnia biolink:Disease mondo ICD10:F51.1|Orphanet:33208|UMLS:C0751757|NCIT:C116343|GARD:0008737|SCTID:3731000119107|MESH:D020177 Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time. NCIT:C116343|SNOMEDCT:3731000119107|UMLS:C0751757|MESH:D020177|ORPHA:33208 http://purl.obolibrary.org/obo/MONDO_0018044 primary hypersomnia|idiopathic hypersomnolence ordo_disease|gard_rare MONDO:0018043 Thomas syndrome biolink:Disease mondo Orphanet:3316|SCTID:716740009|ICD10:Q87.8|UMLS:C2931225|MESH:C536514|GARD:0005175 Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. MESH:C536514|SNOMEDCT:716740009|UMLS:C2931225|ORPHA:3316 http://purl.obolibrary.org/obo/MONDO_0018043 Potter sequence-cleft lip/palate-cardiopathy syndrome ordo_malformation_syndrome MONDO:0018046 thrombocytopenia-robin sequence syndrome biolink:Disease mondo UMLS:C2931364|GARD:0005193|Orphanet:3323|MESH:C536898 MESH:C536898|UMLS:C2931364|ORPHA:3323 http://purl.obolibrary.org/obo/MONDO_0018046 Braddock-Carey syndrome|congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay|Braddock Carey syndrome|thrombocytopenia Robin sequence ordo_malformation_syndrome MONDO:0018045 Hoyeraal-Hreidarsson syndrome biolink:Disease mondo MESH:C536068|UMLS:C1846142|Orphanet:3322|SCTID:707276009|GARD:0000346|ICD10:D61.0 Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. MESH:C536068|SNOMEDCT:707276009|UMLS:C1846142|ORPHA:3322 http://purl.obolibrary.org/obo/MONDO_0018045 Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia|progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|Hoyeraal Hreidarsson syndrome ordo_disease MONDO:0021681 sexually transmitted disease biolink:Disease mondo UMLS:C0036916|MESH:D012749|ICD9:099.8|ICD10:A50.A64|NCIT:C3365|SCTID:8098009|ICD9:099.9 A Disease due to or propagated by sexual contact. SNOMEDCT:8098009|UMLS:C0036916|NCIT:C3365|MESH:D012749 http://purl.obolibrary.org/obo/MONDO_0021681 infection, sexually Transmitted|venereal disease (VD)|Transmitted infection, sexually|STDs|venereal disease|VD, venereal disease|diseases, venereal|infections, sexually Transmitted|sexually Transmitted infection|disease (VD), venereal|STIs|sexually transmitted disease|disease, sexually Transmitted|STD|Transmitted infections, sexually|sexually Transmitted infections|diseases, sexually Transmitted|sexually Transmitted disorder|VD|disease, venereal|STI|venereal diseases MONDO:0021682 viral sexually transmitted disease biolink:Disease mondo MESH:D015229|UMLS:C0036918 Viral diseases which are potentially transmitted or propagated by sexual conduct. UMLS:C0036918|MESH:D015229 http://purl.obolibrary.org/obo/MONDO_0021682 disease, viral venereal|viral sexually Transmitted diseases|viral venereal disease|venereal disease, viral|diseases, viral venereal|venereal diseases, viral|viral sexually transmitted disease|sexually Transmitted disease, viral|viral venereal diseases MONDO:0018031 granulomatous slack skin disease biolink:Disease mondo NCIT:C35464|SCTID:277796003|ICD10:C84.0|UMLS:C0376407|Orphanet:33111|GARD:0010986 Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin. NCIT:C35464|SNOMEDCT:277796003|UMLS:C0457002|UMLS:C0376407|ORPHA:33111 http://purl.obolibrary.org/obo/MONDO_0018031 granulomatous slack skin ordo_disease MONDO:0021683 obsolete transmissible disease biolink:Disease mondo OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process. http://purl.obolibrary.org/obo/MONDO_0021683 MONDO:0018030 tetrasomy 9p biolink:Disease mondo ICD10:Q99.8|MESH:C538027|Orphanet:3310|SCTID:715530004|UMLS:C0795832|GARD:0000042 Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism). UMLS:C0795832|SNOMEDCT:715530004|ORPHA:3310|MESH:C538027 http://purl.obolibrary.org/obo/MONDO_0018030 Mosaic tetrasomy 9p|tetrasomy type 9p|tetrasomy of short arm of chromosome 9|Isochromosome 9p|chromosome 9p tetrasomy ordo_malformation_syndrome|gard_rare MONDO:0021684 obsolete infectious disease of central nervous system biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021684 MONDO:0006068 ACTH-producing pituitary gland adenoma biolink:Disease mondo NCIT:C7462|EFO:1000066 An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion. NCIT:C7462 http://purl.obolibrary.org/obo/MONDO_0006068 adrenocorticotropin producing adenoma of the pituitary|adrenocorticotropin secreting pituitary gland adenoma|ACTH-producing pituitary gland adenoma|adrenocorticotropin producing adenoma of pituitary|adrenocorticotropin secreting adenoma of the pituitary gland|ACTH-producing pituitary adenoma|adrenocorticotropin secreting pituitary adenoma|ACTH producing pituitary gland adenoma|pituitary ACTH-secreting adenoma|adrenocorticotropin secreting adenoma of pituitary gland|adrenocorticotropin secreting adenoma of the pituitary|adrenocorticotropin producing pituitary gland adenoma|pituitary gland ACTH-secreting adenoma|ACTHoma|adrenocorticotropin secreting adenoma of pituitary|ACTH secreting adenoma of the pituitary|pituitary ACTH secreting adenoma|ACTH-secreting adenoma of the pituitary gland|ACTH secreting adenoma of pituitary|adrenocorticotropin producing pituitary adenoma|ACTH-secreting adenoma of pituitary gland|ACTH-secreting adenoma of the pituitary|corticotropin secreting pituitary gland adenoma|corticotroph adenoma|Corticotropinoma|ACTH-secreting adenoma of pituitary|corticotropic adenoma|corticotropin secreting adenoma of the pituitary|pituitary corticotropin secreting adenoma|adrenocorticotropin producing adenoma of the pituitary gland|adrenocorticotropin producing adenoma of pituitary gland MONDO:0006069 ACTH-producing pituitary gland carcinoma biolink:Disease mondo NCIT:C5964|UMLS:C1334556|EFO:1000067|DOID:6276 A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease. DOID:6276|NCIT:C5964|UMLS:C1334556 http://purl.obolibrary.org/obo/MONDO_0006069 malignant ACTH producing neoplasm of pituitary gland|malignant adrenocorticotropin producing tumor of pituitary gland|malignant ACTH secreting neoplasm of the pituitary|malignant adrenocorticotropin secreting pituitary gland neoplasm|malignant ACTH secreting pituitary gland tumor|malignant ACTH secreting neoplasm of pituitary|malignant adrenocorticotropin producing tumor of the pituitary|malignant adrenocorticotropin producing tumor of pituitary|malignant ACTH secreting pituitary neoplasm|malignant ACTH secreting pituitary tumor|malignant ACTH producing neoplasm of the pituitary gland|malignant ACTH producing tumor of the pituitary gland|malignant Corticotropinoma of the pituitary|malignant adrenocorticotropin secreting pituitary gland tumor|malignant ACTH producing tumor of pituitary gland|malignant ACTH producing tumor of the pituitary|malignant ACTH producing pituitary gland tumor|malignant ACTH producing neoplasm of the pituitary|malignant ACTH producing tumor of pituitary|ACTH producing pituitary gland carcinoma|malignant adrenocorticotropin secreting pituitary tumor|malignant ACTH producing neoplasm of pituitary|malignant corticotropin secreting pituitary gland neoplasm|malignant pituitary Corticotropinoma|malignant ACTH producing pituitary tumor|malignant adrenocorticotropin producing neoplasm of the pituitary gland|malignant adrenocorticotropin producing neoplasm of pituitary gland|malignant ACTH secreting tumor of the pituitary gland|malignant adrenocorticotropin producing pituitary gland tumor|malignant pituitary gland Corticotropinoma|malignant ACTH secreting tumor of pituitary gland|malignant adrenocorticotropin producing pituitary neoplasm|malignant Corticotropinoma of the pituitary gland|malignant adrenocorticotropin producing neoplasm of the pituitary|malignant ACTH secreting tumor of the pituitary|malignant adrenocorticotropin producing neoplasm of pituitary|malignant Corticotropinoma of pituitary gland|malignant adrenocorticotropin producing pituitary gland neoplasm|malignant ACTH secreting tumor of pituitary|malignant adrenocorticotropin producing pituitary tumor|malignant Corticotropinoma of pituitary|malignant ACTH producing pituitary neoplasm|malignant ACTH secreting neoplasm of the pituitary gland|malignant adrenocorticotropin secreting pituitary neoplasm|malignant ACTH producing pituitary gland neoplasm|malignant adrenocorticotropin producing tumor of the pituitary gland|malignant ACTH secreting neoplasm of pituitary gland MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant biolink:Disease mondo NCIT:C39882|EFO:1000064|UMLS:C1515863 A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm. UMLS:C1515863|NCIT:C39882 http://purl.obolibrary.org/obo/MONDO_0006066 MONDO:0006067 acinar prostate mucinous adenocarcinoma biolink:Disease mondo EFO:1000065|NCIT:C5537|DOID:3703|UMLS:C1335513 A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin. DOID:3703|NCIT:C5537|UMLS:C1335513 http://purl.obolibrary.org/obo/MONDO_0006067 mucinous adenocarcinoma of prostate|mucinous adenocarcinoma of the prostate|colloid adenocarcinoma of prostate|colloid adenocarcinoma of the prostate|prostate colloid adenocarcinoma|acinar colloid prostate adenocarcinoma|colloidal prostate adenocarcinoma|colloidal adenocarcinoma of prostate|colloidal adenocarcinoma of the prostate MONDO:0006064 obsolete lactose intolerance biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006064 MONDO:0021680 streptococcal infection biolink:Disease mondo ICD9:041.00|MESH:D013290|UMLS:C0038395|EFO:1001476|ICD9:041.09|SCTID:85769006|NCIT:C87062 Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G. MESH:D013290|UMLS:C0038395|SNOMEDCT:85769006|NCIT:C87062 http://purl.obolibrary.org/obo/MONDO_0021680 Streptococcus disease or disorder|infections, streptococcal|streptococcal infection|infection, streptococcal|Streptococcus infectious disease|Streptococcus caused disease or disorder MONDO:0006065 lactose intolerance adult type biolink:Disease mondo EFO:1000063 Adult onset lactose intolerance http://purl.obolibrary.org/obo/MONDO_0006065 MONDO:0006062 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006062 MONDO:0006063 obsolete carbohydrate metabolic disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006063 GO:0043549 regulation of kinase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_0043549 MONDO:0006060 nasopharyngeal squamous cell carcinoma biolink:Disease mondo EFO:1000058 A squamous cell carcinoma that arises from the nasopharynx. http://purl.obolibrary.org/obo/MONDO_0006060 MONDO:0006061 cervical artery dissection biolink:Disease mondo EFO:1000059 A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery. http://purl.obolibrary.org/obo/MONDO_0006061 MONDO:0021678 gram-negative bacterial infections biolink:Disease mondo MESH:D016905|ICD9:041.85|SCTID:371583007 Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. SNOMEDCT:371583007|MESH:D016905 http://purl.obolibrary.org/obo/MONDO_0021678 gram-negative bacterial infection|bacterial infections, gram negative|infections, gram negative bacterial|bacterial infections, gram-negative|infections, gram-negative bacterial|bacterial infection, gram-negative|infection, gram-negative bacterial|gram negative bacterial infections MONDO:0018037 hyper-IgE syndrome biolink:Disease mondo OMIMPS:147060|ICD10:D82.4|UMLS:CN204280|NCIT:C3144|Orphanet:331223|GARD:0010956 A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. ORPHA:331223|UMLS:CN204280|NCIT:C3144 http://purl.obolibrary.org/obo/MONDO_0018037 HIES|hyperimmunoglobulin E syndrome|hyper-IgE recurrent infection syndrome gard_rare|ordo_group_of_disorders MONDO:0021679 gram-positive bacterial infections biolink:Disease mondo SCTID:371582002|MESH:D016908|ICD9:041.89 Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. SNOMEDCT:371582002|MESH:D016908 http://purl.obolibrary.org/obo/MONDO_0021679 Gram Positive bacterial infections|infections, Gram Positive bacterial|bacterial infections, Gram Positive|infections, Gram-positive bacterial|bacterial infections, Gram-positive|bacterial infection, Gram-positive|infection, Gram-positive bacterial|Gram-positive bacterial infection MONDO:0018036 immunodeficiency due to absence of thymus biolink:Disease mondo Orphanet:331220|ICD10:D81.4 ORPHA:331220 http://purl.obolibrary.org/obo/MONDO_0018036 ordo_group_of_disorders MONDO:0018039 selective IgM deficiency biolink:Disease mondo ICD9:279.02|SCTID:190980000|GARD:0012547|Orphanet:331235|ICD10:D80.4|DOID:0050222|COHD:434893 Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement. SNOMEDCT:190980000|DOID:0050222|ORPHA:331235 http://purl.obolibrary.org/obo/MONDO_0018039 selective immunoglobulin M deficiency|selective IgM deficiency disease|SIgMD ordo_disease|gard_rare HGNC:18324 HSD3B7 biolink:OntologyClass mondo http://identifiers.org/hgnc/18324 MONDO:0018038 immunodeficiency with isotype or light chain deficiencies with normal number of B-cells biolink:Disease mondo Orphanet:331232 ORPHA:331232 http://purl.obolibrary.org/obo/MONDO_0018038 ordo_group_of_disorders MONDO:0018033 other immunodeficiency syndromes due to defects in innate immunity biolink:Disease mondo UMLS:CN204276|Orphanet:331193 ORPHA:331193|UMLS:CN204276 http://purl.obolibrary.org/obo/MONDO_0018033 ordo_group_of_disorders|obsoletion_candidate MONDO:0018032 constitutional neutropenia with extra-hematopoietic manifestations biolink:Disease mondo Orphanet:331184 ORPHA:331184 http://purl.obolibrary.org/obo/MONDO_0018032 ordo_group_of_disorders MONDO:0018035 syndrome with combined immunodeficiency biolink:Disease mondo Orphanet:331217|UMLS:CN204279 ORPHA:331217|UMLS:CN204279 http://purl.obolibrary.org/obo/MONDO_0018035 ordo_group_of_disorders MONDO:0018034 thalidomide embryopathy biolink:Disease mondo GARD:0002313|UMLS:C0432365|SCTID:36193003|MedDRA:10071249|ICD10:Q86.8|Orphanet:3312|NCIT:C99082|ICD9:759.89 A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment. SNOMEDCT:36193003|NCIT:C99082|UMLS:C0432365|MEDDRA:10071249|ORPHA:3312 http://purl.obolibrary.org/obo/MONDO_0018034 thalidomide-induced birth defect|fetal thalidomide syndrome|thalidomide embryopathy syndrome ordo_disease MONDO:0021670 post-infectious syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021670 MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy biolink:Disease mondo OMIM:619036 http://identifiers.org/omim/619036 http://purl.obolibrary.org/obo/MONDO_0033619 MEPCA MONDO:0018020 mercury poisoning biolink:Disease mondo EFO:1001810|GARD:0007021|ICD9:985.0|MESH:D008630|Orphanet:330021|SCTID:85180002|ICD10:T56.1 Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity. MESH:D008630|ORPHA:330021|SNOMEDCT:85180002 http://purl.obolibrary.org/obo/MONDO_0018020 mercurialism|Mercury intoxication|hydrargyria|Mercury toxicity gard_rare|ordo_disease MONDO:0033618 Vissers-Bodmer syndrome biolink:Disease mondo OMIM:619033 http://identifiers.org/omim/619033 http://purl.obolibrary.org/obo/MONDO_0033618 VIBOS MONDO:0021673 post-bacterial disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021673 MONDO:0021674 post-viral disorder biolink:Disease mondo SCTID:123948009|ICD9:139.8 SNOMEDCT:123948009 http://purl.obolibrary.org/obo/MONDO_0021674 MONDO:0033615 coenzyme q10 deficiency, primary, 9 biolink:Disease mondo OMIM:619028 http://identifiers.org/omim/619028 http://purl.obolibrary.org/obo/MONDO_0033615 COQ10D9 MONDO:0006039 infectious colitis biolink:Disease mondo UMLS:C0277524|SCTID:39341005|EFO:1000035|NCIT:C78359 A viral or bacterial infectious process affecting the large intestine. NCIT:C78359|SNOMEDCT:39341005|UMLS:C0277524 http://purl.obolibrary.org/obo/MONDO_0006039 infectious colitis MONDO:0033614 spastic paraplegia 83, autosomal recessive biolink:Disease mondo OMIM:619027 http://identifiers.org/omim/619027 http://purl.obolibrary.org/obo/MONDO_0033614 SPG83 MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities biolink:Disease mondo OMIM:619026 http://identifiers.org/omim/619026 http://purl.obolibrary.org/obo/MONDO_0033613 NEDSWMA MONDO:0021677 post-infectious neuralgia biolink:Disease mondo SCTID:17111003|UMLS:C0032772|ICD9:729.2 SNOMEDCT:17111003|UMLS:C0032772 http://purl.obolibrary.org/obo/MONDO_0021677 postinfectious neuralgia MONDO:0006037 hydrolethalus syndrome biolink:Disease mondo DOID:0050779|UMLS:C2931104|Orphanet:2189|GARD:0006683|SCTID:721232000|MESH:C536079|EFO:1000033|ICD10:Q87.8|OMIMPS:236680 Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. SNOMEDCT:721232000|ORPHA:2189|MESH:C536079|DOID:0050779|UMLS:C2931104 http://purl.obolibrary.org/obo/MONDO_0006037 Salonen-Herva-Norio syndrome|hydrolethalus|HLS gard_rare|ordo_malformation_syndrome MONDO:0006038 indeterminate colitis biolink:Disease mondo SCTID:235746007|ICD10:K52.3|ICD9:558.9|NCIT:C27110|UMLS:C0341332|EFO:1000034 It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy. SNOMEDCT:235746007|NCIT:C27110|UMLS:C0341332 http://purl.obolibrary.org/obo/MONDO_0006038 colitis of indeterminate type MONDO:0008699 achalasia microcephaly syndrome biolink:Disease mondo OMIM:200450|SCTID:718573009|UMLS:C1860212|Orphanet:929|GARD:0000456|DOID:0050796|MESH:C536010|ICD10:Q39.5 Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed. UMLS:C1860212|MESH:C536010|DOID:0050796|ORPHA:929|SNOMEDCT:718573009|http://identifiers.org/omim/200450 http://purl.obolibrary.org/obo/MONDO_0008699 achalasia microcephaly|achalasia-microcephaly syndrome ordo_malformation_syndrome|gard_rare MONDO:0008698 achalasia (disease) biolink:Disease mondo HP:0002571|UMLS:C0014848|DOID:9164|ICD10:K22.0|ICD9:530.0|COHD:318186|OMIM:200400|UMLS:C2939435|UMLS:C1321756|SCTID:235630008 A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food. NCIT:C84699|UMLS:C1321756|UMLS:C0014848|SNOMEDCT:235630008|http://identifiers.org/omim/200400|DOID:9164|UMLS:C2939435 http://purl.obolibrary.org/obo/MONDO_0008698 achalasia, familial esophageal|cardiospasm|achalasia|achalasia of cardia|achalasia of esophagus|hypertensive lower esophageal sphincter|lack of reflex relaxation of lower oesophageal sphincter|esophageal achalasia MONDO:0006035 gastric tubular adenocarcinoma biolink:Disease mondo NCIT:C5473|ONCOTREE:TSTAD|UMLS:C1333791|EFO:1000030|DOID:6595 A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules. UMLS:C1333791|DOID:6595|NCIT:C5473 http://purl.obolibrary.org/obo/MONDO_0006035 tubular stomach adenocarcinoma|tubular adenocarcinoma of stomach|stomach tubular adenocarcinoma|gastric tubular adenocarcinoma|tubular adenocarcinoma of the stomach MONDO:0006036 granulosa cell tumor biolink:Disease mondo ONCOTREE:GRCT|NCIT:C3070|MESH:D006106|UMLS:C0018206|EFO:1000032|DOID:2999 A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. NCIT:C3070|MESH:D006106|UMLS:C0018206|DOID:2999 http://purl.obolibrary.org/obo/MONDO_0006036 neoplasm of granulosa cell|granulosa cell tumor, adult type (morphologic abnormality)|granulosa cell tumour, sarcomatoid|granulosa cell tumor, undetermined|granulosa cell tumor|tumor of granulosa cell|granulosa cell tumor, adult type|GRCT|malignant granulosa cell neoplasm|granulosa cell neoplasm (disease)|granulosa cell neoplasm NCBITaxon:43755 Oestroidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43755 MONDO:0008697 obsolete acetophenetidin sensitivity biolink:Disease mondo OMIM:200300 http://identifiers.org/omim/200300 http://purl.obolibrary.org/obo/MONDO_0008697 Acetophenetidin sensitivity MONDO:0006033 diffuse intrinsic pontine glioma biolink:Disease mondo ONCOTREE:DIPG|NCIT:C94764|EFO:1000026|UMLS:C2986658|Orphanet:497188|GARD:0013075 A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis. ORPHA:497188|NCIT:C94764|UMLS:C2986658 http://purl.obolibrary.org/obo/MONDO_0006033 DIPG|infiltrative brainstem glioma ordo_disease|gard_rare MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome biolink:Disease mondo Orphanet:90301|UMLS:C1860215|GARD:0000453|OMIM:200170|MESH:C536000 This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. ORPHA:90301|MESH:C536000|UMLS:C1860215|http://identifiers.org/omim/200170 http://purl.obolibrary.org/obo/MONDO_0008696 familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps|acanthosis nigricans with muscle cramps and acral enlargement|acanthosis nigricans muscle cramps acral enlargement ordo_disease MONDO:0006034 gastric adenosquamous carcinoma biolink:Disease mondo EFO:1000029|NCIT:C5474|ONCOTREE:STAS|DOID:5635|UMLS:C1333761 A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation. UMLS:C1333761|DOID:5635|NCIT:C5474 http://purl.obolibrary.org/obo/MONDO_0006034 stomach adenosquamous carcinoma|gastric (stomach) adenosquamous cancer|adenosquamous carcinoma of the stomach|adenosquamous carcinoma of stomach|STAS|gastric adenosquamous carcinoma MONDO:0008695 chorea-acanthocytosis biolink:Disease mondo ICD9:333.0|DOID:0050766|GARD:0003956|Orphanet:2388|SCTID:66881004|ICD10:E78.6|OMIM:200150 Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. ORPHA:2388|DOID:0050766|http://identifiers.org/omim/200150|SNOMEDCT:66881004|UMLS:C0393576 http://purl.obolibrary.org/obo/MONDO_0008695 neuroacanthocytosis|choreo-acanthocytosis|chorea-acanthocytosis|chorea acanthocytosis|acanthocytosis with neurologic disorder|Chac|choreoacanthocytosis|Levine-Critchley syndrome|choreaacanthocytosis|CHOREOACANTHOCYTOSIS; Chac|choreoacanthocytosis ordo_disease MONDO:0006031 chronic rhinosinusitis biolink:Disease mondo UMLS:C0149516|EFO:1000024|PMID:25838086|SCTID:40055000|ICD9:473.9|NCIT:C35151|ICD9:473.8 Chronic form of sinusitis. NCIT:C35151|SNOMEDCT:40055000|UMLS:C0149516 http://purl.obolibrary.org/obo/MONDO_0006031 chronic sinusitis|sinusitis, chronic NCBITaxon:43750 Sciomyzoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43750 MONDO:0008694 pseudoprogeria syndrome biolink:Disease mondo GARD:0000415|OMIM:200130|MESH:C563111|UMLS:C0796125|Orphanet:2985|SCTID:733086003|ICD10:Q87.8 Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. ORPHA:2985|http://identifiers.org/omim/200130|MESH:C563111|SNOMEDCT:733086003|UMLS:C0796125 http://purl.obolibrary.org/obo/MONDO_0008694 absent eyebrows and eyelashes with mental retardation|pseudoprogeria syndrome|Hal-Berg-Rudolph syndrome|absent eyebrows and eyelashes-intellectual disability syndrome|intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|absent eyebrows and eyelashes with intellectual disability|mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|eyebrows and eyelashes absence-intellectual disability syndrome gard_rare|ordo_malformation_syndrome MONDO:0008693 ablepharon macrostomia syndrome biolink:Disease mondo MESH:C535557|GARD:0000003|SCTID:718575002|DOID:0060550|Orphanet:920|OMIM:200110|UMLS:C1860224|ICD10:Q87.0 Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. UMLS:C1860224|SNOMEDCT:718575002|ORPHA:920|http://identifiers.org/omim/200110|MESH:C535557|DOID:0060550 http://purl.obolibrary.org/obo/MONDO_0008693 poikiloderma with neutropenia, Clericuzio type|ablepharon-macrostomia syndrome; AMS|congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies|AMS|ablepharon-macrostomia syndrome gard_rare|ordo_malformation_syndrome MONDO:0006032 cystitis biolink:Disease mondo COHD:195588|ICD9:595.89|EFO:1000025|ICD10:N30|NCIT:C26738|DOID:1679|ICD10:N30.9|SCTID:38822007|ICD9:595.9|ICD9:595|UMLS:C0010692|MESH:D003556 Inflammation of the urinary bladder. MESH:D003556|SNOMEDCT:38822007|UMLS:C0010692|DOID:1679|NCIT:C26738 http://purl.obolibrary.org/obo/MONDO_0006032 urinary bladder inflammation|inflammation of urinary bladder|bladder infection MONDO:0008692 abetalipoproteinemia biolink:Disease mondo NCIT:C84525|DOID:1386|UMLS:C0000744|SCTID:190787008|GARD:0000005|ICD10:E78.6|Orphanet:14|MESH:D000012|OMIM:200100 Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. MESH:D000012|SNOMEDCT:190787008|UMLS:C0000744|http://identifiers.org/omim/200100|DOID:1386|ORPHA:14|NCIT:C84525 http://purl.obolibrary.org/obo/MONDO_0008692 Betalipoprotein deficiency disease|homozygous familial hypobetalipoproteinemia|microsomal triglyceride transfer protein deficiency disease|ABL|microsomal triglyceride transfer Protein deficiency|abetalipoproteinemia|congenital betalipoprotein deficiency syndrome|abetalipoproteinemia neuropathy|Bassen Kornzweig syndrome|Bassen-Kornzweig disease|familial hypobetalipoproteinemia|abetalipoproteinemia; ABL|acanthocytosis|MTP deficiency|apolipoprotein B deficiency|Bassen-Kornzweig syndrome ordo_disease MONDO:0006030 chronic cystitis biolink:Disease mondo ICD9:595.2|DOID:1680|EFO:1000023|ICD10:N30.2|COHD:201621|UMLS:C0221763|NCIT:C27008|SCTID:33655002 Recurrent infections of the urinary bladder. NCIT:C27008|SNOMEDCT:33655002|UMLS:C0221763|DOID:1680 http://purl.obolibrary.org/obo/MONDO_0006030 cystitis, chronic MONDO:0008691 zinc, elevated plasma biolink:Disease mondo OMIM:194470 http://identifiers.org/omim/194470 http://purl.obolibrary.org/obo/MONDO_0008691 hyperzincemia and hypercalprotectinemia|zinc, elevated plasma|hyperzincemia, familial Dysalbuminemic|albumin binding of zinc, elevated MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild biolink:Disease mondo UMLS:C1860231|OMIM:194400|MESH:C565989 UMLS:C1860231|http://identifiers.org/omim/194400|MESH:C565989 http://purl.obolibrary.org/obo/MONDO_0008690 xeroderma pigmentosum, autosomal dominant, mild MONDO:0018029 congenital factor XIII deficiency biolink:Disease mondo GARD:0010766|Orphanet:331|SCTID:50189006|ICD9:286.3|ICD10:D68.2|MESH:D005177|DOID:2211|NCIT:C131633 Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies. ORPHA:331|SNOMEDCT:50189006|DOID:2211|NCIT:C131633|MESH:D005177 http://purl.obolibrary.org/obo/MONDO_0018029 hereditary factor XIII deficiency disease|factor XIII deficiency disease|fibrin stabilizing factor deficiency|factor XIII deficiency|deficiency, Laki-Lorand factor|fibrin-stabilizing factor deficiency ordo_disease MONDO:0018026 tetraploidy syndrome biolink:Disease mondo MESH:D057891|GARD:0005151|ICD10:Q92.7|UMLS:C0795884|Orphanet:3305|SCTID:726363000 The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages. ORPHA:3305|UMLS:C0333694|MESH:D057891|UMLS:C0795884|SNOMEDCT:726363000 http://purl.obolibrary.org/obo/MONDO_0018026 tetraploidy ordo_malformation_syndrome|gard_rare MONDO:0021667 neuralgia biolink:Disease mondo ICD9:729.2|MESH:D009437|SCTID:16269008 A pain disorder characterize by pain in the distribution of a nerve or nerves MESH:D009437|SNOMEDCT:16269008 http://purl.obolibrary.org/obo/MONDO_0021667 paroxysmal nerve pains|neuralgia|paroxysmal nerve pain|pain, neuropathic|pain, nerve MONDO:0018025 chronic actinic dermatitis biolink:Disease mondo UMLS:C1510437|ICD10:L57.8|ICD9:692.73|Orphanet:330064|SCTID:52636001 SNOMEDCT:52636001|ORPHA:330064|UMLS:C1510437 http://purl.obolibrary.org/obo/MONDO_0018025 chronic photosensitivity dermatitis|actinic reticuloid ordo_disease MONDO:0021668 disorder involving pain biolink:Disease mondo SCTID:373673007|DOID:0060164|UMLS:C1300028 UMLS:C1300028|DOID:0060164|MESH:D010146|SNOMEDCT:373673007 http://purl.obolibrary.org/obo/MONDO_0021668 pain disorder MONDO:0033622 spermatogenic failure 44 biolink:Disease mondo OMIM:619044 http://identifiers.org/omim/619044 http://purl.obolibrary.org/obo/MONDO_0033622 SPGF44 MONDO:0021669 post-infectious disorder biolink:Disease mondo ICD9:139.8|SCTID:123976001 SNOMEDCT:123976001 http://purl.obolibrary.org/obo/MONDO_0021669 MONDO:0018028 tetrasomy 5p biolink:Disease mondo ICD10:Q99.8|Orphanet:3309|SCTID:766755003 Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). ORPHA:3309|SNOMEDCT:766755003 http://purl.obolibrary.org/obo/MONDO_0018028 tetrasomy type 5p|Isochromosome 5p ordo_malformation_syndrome MONDO:0033621 spinal muscular atrophy, infantile, James type biolink:Disease mondo OMIM:619042 http://identifiers.org/omim/619042 http://purl.obolibrary.org/obo/MONDO_0033621 SMAJI MONDO:0018027 duplication/inversion 15q11 biolink:Disease mondo GARD:0005153|Orphanet:3306|SCTID:723332005|MESH:C580205|ICD10:Q99.8 Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person. ORPHA:3306|MESH:C580205|SNOMEDCT:723332005 http://purl.obolibrary.org/obo/MONDO_0018027 tetrasomy 15q|Isodicentric 15 chromosome|Duplication/inversion type 15q11|non-distal tetrasomy 15q|Inv dup(15)|non-telomeric tetrasomy 15q|duplication/inversion 15q11|Invdup(15)|inverted duplication 15|chromosome 15q tetrasomy|Isodicentric chromosome 15 syndrome|idic(15) ordo_malformation_syndrome|gard_rare MONDO:0033620 myofibrillar myopathy 10 biolink:Disease mondo OMIM:619040 http://identifiers.org/omim/619040 http://purl.obolibrary.org/obo/MONDO_0033620 MFM10 MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome biolink:Disease mondo ICD10:D56.8|Orphanet:330032|UMLS:CN227251 UMLS:CN227251|ORPHA:330032 http://purl.obolibrary.org/obo/MONDO_0018022 HbLepore-beta-thalassemia syndrome|Lepore-beta-thalassemia syndrome ordo_disease MONDO:0018021 hypotrichosis-deafness syndrome biolink:Disease mondo Orphanet:330029|ICD10:H90.5|UMLS:CN204237 ORPHA:330029|UMLS:CN204237 http://purl.obolibrary.org/obo/MONDO_0018021 ordo_disease MONDO:0018024 hydroa vacciniforme biolink:Disease mondo MESH:D006837|UMLS:C0020241|ICD10:L56.4|Orphanet:330058|NCIT:C84766|SCTID:200837006|GARD:0009654 A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas. NCIT:C84766|SNOMEDCT:200837006|ORPHA:330058|MESH:D006837|UMLS:C0020241 http://purl.obolibrary.org/obo/MONDO_0018024 hV ordo_disease|gard_rare MONDO:0018023 hemoglobin M disease biolink:Disease mondo GARD:0013007|UMLS:CN204238|ICD10:D74.0|Orphanet:330041|SCTID:74912001|OMIM:617971|MESH:C581942|UMLS:C3665425 UMLS:C3665425|SNOMEDCT:74912001|ORPHA:330041|MESH:C581942|http://identifiers.org/omim/617971|UMLS:CN204238 http://purl.obolibrary.org/obo/MONDO_0018023 M hemoglobinopathy|methemoglobinemia, beta-globin type|autosomal dominant methemoglobinemia|blue baby syndrome|hereditary methemoglobinemia due to hemoglobin mutation ordo_disease MONDO:0021660 deep seated dermatophytosis biolink:Disease mondo NCIT:C35073|UMLS:C1395264 A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars. UMLS:C1395264|NCIT:C35073 http://purl.obolibrary.org/obo/MONDO_0021660 deep seated dermatophytosis MONDO:0021661 coronary atherosclerosis biolink:Disease mondo SCTID:443502000|NCIT:C35505|ICD9:414.00 Atherosclerosis of the coronary vasculature. NCIT:C35505|SNOMEDCT:443502000 http://purl.obolibrary.org/obo/MONDO_0021661 coronary atherosclerosis|arteriosclerosis disorder of coronary artery|atherosclerosis of coronary artery|coronary artery arteriosclerosis disorder|coronary artery arteriosclerosis (disease) MONDO:0021662 bile duct neoplasm biolink:Disease mondo UMLS:C0005396|NCIT:C2898 A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma. UMLS:C0005396|NCIT:C2898 http://purl.obolibrary.org/obo/MONDO_0021662 bile duct neoplasm (disease)|bile duct tumor|intrahepatic and extrahepatic bile duct tumor|tumor of bile duct|bile duct neoplasm|neoplasm of bile duct|intrahepatic and extrahepatic bile duct neoplasm MONDO:0021663 sarcomatoid squamous cell carcinoma biolink:Disease mondo SCTID:403900000|NCIT:C27084|ICD9:199.1|ICDO:8074/3 A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features. NCIT:C27084|SNOMEDCT:403900000 http://purl.obolibrary.org/obo/MONDO_0021663 epidermoid spindle cell carcinoma|spindle cell (sarcomatoid) squamous cell carcinoma|squamous cell carcinoma, spindle cell|sarcomatoid squamous cell carcinoma|squamous cell carcinoma, sarcomatoid|squamous cell spindle cell carcinoma MONDO:0021664 cervical aortic arch biolink:Disease mondo ICD10:Q25.4|Orphanet:99079 UMLS:C0345065|ORPHA:99079 http://purl.obolibrary.org/obo/MONDO_0021664 aortic arch syndrome MONDO:0021665 obsolete Refsum disease biolink:Disease mondo NCIT:C85043 A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy. http://purl.obolibrary.org/obo/MONDO_0021665 Refsum disease MONDO:0021666 ear infection biolink:Disease mondo MESH:D010031|NCIT:C27193|UMLS:C0699744 A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting. UMLS:C0699744|MESH:D010031|NCIT:C27193 http://purl.obolibrary.org/obo/MONDO_0021666 otitis|Ear infection NCBITaxon:43741 Acalyptratae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43741 MONDO:0006048 obsolete pancreatic neuroendocrine tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006048 MONDO:0006049 papillary lung adenocarcinoma biolink:Disease mondo ICD9:162.9|DOID:5588|NCIT:C5650|EFO:1000046|SCTID:707411007|UMLS:C1335325 A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures. UMLS:C1335325|SNOMEDCT:707411007|DOID:5588|NCIT:C5650 http://purl.obolibrary.org/obo/MONDO_0006049 papillary adenocarcinoma of lung|lung papillary-adenocarcinoma|papillary lung adenocarcinoma|papillary adenocarcinoma of the lung|lung papillary adenocarcinoma NCBITaxon:43742 Calyptratae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43742 MONDO:0006046 ovarian serous cystadenocarcinoma biolink:Disease mondo DOID:5746|EFO:1000043|UMLS:C0279663|NCIT:C7978 A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features. UMLS:C0279663|DOID:5746|NCIT:C7978 http://purl.obolibrary.org/obo/MONDO_0006046 serous cystadenoma|ovarian serous cystadenocarcinoma MONDO:0006047 pancreatic adenocarcinoma biolink:Disease mondo NCIT:C8294|SCTID:700423003|UMLS:C0281361|EFO:1000044|ONCOTREE:PAAD|DOID:4074 A carcinoma that arises from glandular epithelial cells of the pancreas DOID:4074|UMLS:C0281361|NCIT:C8294|SNOMEDCT:700423003 http://purl.obolibrary.org/obo/MONDO_0006047 adenocarcinoma - pancreas|adenocarcinoma of pancreas|PAAD|pancreas adenocarcinoma|pancreatic adenocarcinoma|adenocarcinoma of the pancreas GO:0043565 sequence-specific DNA binding biolink:OntologyClass mondo Interacting selectively and non-covalently with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. http://purl.obolibrary.org/obo/GO_0043565 sequence specific DNA binding MONDO:0006044 nephrosclerosis biolink:Disease mondo UMLS:C0027719|MESH:D009400|SCTID:32916005|ICD10:N26.9|EFO:1000041|ICD10:I12|DOID:11664|ICD9:587|GARD:0007179 Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. UMLS:C0027719|MESH:D009400|SNOMEDCT:32916005|DOID:11664 http://purl.obolibrary.org/obo/MONDO_0006044 renal sclerosis gard_rare MONDO:0006045 ovarian clear cell adenocarcinoma biolink:Disease mondo DOID:5304|UMLS:C1518693|Orphanet:398971|EFO:1000042|ICD10:C56|UMLS:CN205034|NCIT:C40078|SCTID:763131005 A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia. NCIT:C40078|SNOMEDCT:763131005|DOID:5304|UMLS:CN205034|ORPHA:398971|UMLS:C1518693 http://purl.obolibrary.org/obo/MONDO_0006045 ovary clear cell adenocarcinoma|clear cell adenocarcinoma of the ovary|clear cell adenocarcinoma of ovary|ovarian clear cell adenocarcinoma ordo_disease MONDO:0006042 meningeal tuberculosis biolink:Disease mondo GARD:0007828|MESH:D014390|NCIT:C84888|UMLS:C0041318|EFO:1000039 A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis. MESH:D014390|UMLS:C0041318|NCIT:C84888 http://purl.obolibrary.org/obo/MONDO_0006042 TB meningitis MONDO:0006043 metaplastic breast carcinoma biolink:Disease mondo ICD10:C50.6|ICD10:C50.8|ICD10:C50.3|SCTID:763479005|ICD10:C50.2|NCIT:C5164|ICD10:C50.5|ICD10:C50.4|GARD:0010804|Orphanet:213531|ICD10:C50.1|EFO:1000040|ICD10:C50.0|UMLS:C1334708|DOID:4680|ONCOTREE:MBC A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells. UMLS:C1334708|ORPHA:213531|DOID:4680|SNOMEDCT:763479005|NCIT:C5164 http://purl.obolibrary.org/obo/MONDO_0006043 metaplastic carcinoma of the breast|metaplastic breast carcinoma|metaplastic breast cancer|metaplastic carcinoma of breast|breast metaplastic carcinoma ordo_disease UBERON:4100000 skeletal element projection biolink:AnatomicalEntity mondo Anatomical projection that is composed of bone or cartilage tissue. http://purl.obolibrary.org/obo/UBERON_4100000 MONDO:0006040 lactic acidosis biolink:Disease mondo SCTID:91273001|MESH:D000140|UMLS:C0001125 Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. UMLS:C0001125|MESH:D000140|SNOMEDCT:91273001|NCIT:C98969 http://purl.obolibrary.org/obo/MONDO_0006040 MONDO:0006041 lung carcinoid tumor biolink:Disease mondo EFO:1000037|NCIT:C4038|ONCOTREE:LUCA|UMLS:C0280089|SCTID:254627002 A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis. UMLS:C0280089|NCIT:C4038|SNOMEDCT:254627002 http://purl.obolibrary.org/obo/MONDO_0006041 pulmonary carcinoid tumor|lung carcinoid tumor (disease)|lung carcinoid tumor|lung carcinoid|carcinoid tumor of lung|carcinoid tumor of the lung|carcinoid tumor (disease) of lung MONDO:0018019 lead poisoning biolink:Disease mondo ICD10:T56.0|ICD9:984.9|MESH:D007855|Orphanet:330015|ICD9:984.8|SCTID:38342005 5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs. SNOMEDCT:38342005|ORPHA:330015|MESH:D007855 http://purl.obolibrary.org/obo/MONDO_0018019 saturnism|Lead intoxication|plumbism ordo_disease HGNC:18308 TMLHE biolink:OntologyClass mondo http://identifiers.org/hgnc/18308 MONDO:0018018 wild type ATTR amyloidosis biolink:Disease mondo UMLS:C0342623|ICD9:277.39|ICD10:E85.8|SCTID:237877004|Orphanet:330001|UMLS:CN204235 UMLS:CN204235|SNOMEDCT:237877004|ORPHA:330001|UMLS:C0342623 http://purl.obolibrary.org/obo/MONDO_0018018 Senile systemic amyloidosis|wild type ATTR-related amyloidosis|ATTRwt amyloidosis|ATTRwt-related amyloidosis|SSA ordo_disease MONDO:0021656 nongerminomatous germ cell tumor biolink:Disease mondo NCIT:C121619|GARD:0010165|ONCOTREE:NSGCT A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors. NCIT:C121619 http://purl.obolibrary.org/obo/MONDO_0021656 Nongerminomatous germ cell tumor Including central nervous system|Nongerminomatous germ cell tumor|non-dysgerminomatous germ cell tumor|non-germinomatous germ cell tumor|non-seminomatous germ cell tumor|NSGCT MONDO:0018015 intermittent hydrarthrosis biolink:Disease mondo UMLS:C0149910|ICD10:M12.4|SCTID:711286009|Orphanet:329967 SNOMEDCT:711286009|UMLS:C0149910|ORPHA:329967 http://purl.obolibrary.org/obo/MONDO_0018015 ordo_disease MONDO:0021657 ovarian sex cord-stromal tumor biolink:Disease mondo NCIT:C4862|EFO:1000430|ONCOTREE:SCST|GARD:0012285|UMLS:C0600113 A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor. UMLS:C0600113|NCIT:C4862 http://purl.obolibrary.org/obo/MONDO_0021657 sex cord-stromal tumor of ovary|Sex cord-stromal neoplasm of the ovary|ovarian Sex cord-stromal tumor|Sex cord-stromal neoplasm of ovary|Sex cord-stromal tumor of the ovary|Sex cord-stromal tumor of ovary|sex cord stromal tumor|ovarian Sex cord-stromal neoplasm|ovarian sex cord tumor with annular tubules|ovary sex cord-stromal tumor MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency biolink:Disease mondo UMLS:CN204228|ICD10:E71.3|Orphanet:329942|SCTID:723552005 Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. UMLS:CN204228|SNOMEDCT:723552005|ORPHA:329942 http://purl.obolibrary.org/obo/MONDO_0018014 transient neonatal glutaric acidemia type 2|transient neonatal glutaric aciduria type 2|transient neonatal MAD deficiency|transient neonatal MADD ordo_disease HGNC:18305 ATP6AP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18305 MONDO:0018017 goblet cell carcinoma biolink:Disease mondo GARD:0010414|Orphanet:329984|ICD10:C18.1 Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis. ORPHA:329984 http://purl.obolibrary.org/obo/MONDO_0018017 mucinous carcinoid|goblet cell adenocarcinoid|carcinoma of goblet cell|goblet cell carcinoma|goblet cell tumor|GCC|goblet cell carcinoid ordo_clinical_subtype MONDO:0021658 vascular ectasia biolink:Disease mondo NCIT:C45481|UMLS:C0002959 UMLS:C0002959|NCIT:C45481 http://purl.obolibrary.org/obo/MONDO_0021658 vascular ectasia MONDO:0018016 classic neuroendocrine tumor of appendix biolink:Disease mondo UMLS:CN204231|ICD10:D37.3|Orphanet:329977 Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated. UMLS:CN204231|ORPHA:329977 http://purl.obolibrary.org/obo/MONDO_0018016 classic appendix neuroendocrine tumor|classic appendiceal neuroendocrine tumor ordo_clinical_subtype MONDO:0021659 combined carcinoid and adenocarcinoma biolink:Disease mondo NCIT:C4139|MESH:C538230|UMLS:C0334302|GARD:0005741|ICDO:8245/3|ICDO:8244/3 A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells. MESH:C538230|NCIT:C4139|UMLS:C0334302 http://purl.obolibrary.org/obo/MONDO_0021659 mixed carcinoid tumor|composite carcinoid|composite carcinoid tumor|combined carcinoid tumor and adenocarcinoma|composite carcinoid neoplasm|combined carcinoid and adenocarcinoma|combined carcinoid neoplasm and adenocarcinoma|mixed carcinoid neoplasm|adenocarcinoid neoplasm|adenocarcinoid tumor gard_rare MONDO:0033631 combined oxidative phosphorylation deficiency 51 biolink:Disease mondo OMIM:619057 http://identifiers.org/omim/619057 http://purl.obolibrary.org/obo/MONDO_0033631 COXPD51 MONDO:0018011 juvenile overlap myositis biolink:Disease mondo Orphanet:329894|ICD10:M33.0|SCTID:766252004 Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. SNOMEDCT:766252004|ORPHA:329894 http://purl.obolibrary.org/obo/MONDO_0018011 ordo_disease MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies biolink:Disease mondo OMIM:619056 http://identifiers.org/omim/619056 http://purl.obolibrary.org/obo/MONDO_0033630 NEDSID MONDO:0018010 juvenile idiopathic inflammatory myopathy biolink:Disease mondo Orphanet:329888 ORPHA:329888 http://purl.obolibrary.org/obo/MONDO_0018010 JIIM ordo_group_of_disorders GO:0031594 neuromuscular junction biolink:OntologyClass mondo The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. http://purl.obolibrary.org/obo/GO_0031594 NMJ|motor endplate MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis biolink:Disease mondo Orphanet:329918|ICD10:N00.5 ORPHA:329918 http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated MPGN|C3 glomerulopathy|non-Ig-mediated MPGN|non-Ig-mediated membranoproliferative glomerulonephritis ordo_clinical_subtype MONDO:0018012 obsolete tetanus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018012 MONDO:0008719 acrorenal syndrome, autosomal recessive biolink:Disease mondo GARD:0000514|OMIM:201310|UMLS:C0796290|MESH:C535666 Autosomal recessive form of acrorenal syndrome. UMLS:C0796290|http://identifiers.org/omim/201310|MESH:C535666 http://purl.obolibrary.org/obo/MONDO_0008719 autosomal recessive acrorenal syndrome|Curran syndrome|acrorenal syndrome recessive|acrorenal syndrome, autosomal recessive|acrorenal syndrome autosomal recessive MONDO:0008718 Morvan syndrome biolink:Disease mondo GARD:0009766|EFO:1001897|UMLS:C0751540|Orphanet:83467|ICD10:G60.8|SCTID:763803004 Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases. SNOMEDCT:763803004|UMLS:C0751540|ORPHA:83467 http://purl.obolibrary.org/obo/MONDO_0008718 limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome|Morvan's fibrillary chorea ordo_disease MONDO:0008717 acromesomelic dysplasia, Hunter-Thompson type biolink:Disease mondo DOID:0080051|GARD:0000506|Orphanet:968|OMIM:201250|ICD10:Q78.8 Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. DOID:0080051|http://identifiers.org/omim/201250|ORPHA:968 http://purl.obolibrary.org/obo/MONDO_0008717 acromesomelic dwarfism|acromesomelic dysplasia Hunter Thompson type|acromesomelic dysplasia, Hunter-Thompson type|AMDH|acromesomelic dysplasia, Hunter-Thompson type; AMDH ordo_malformation_syndrome MONDO:0008716 acrogeria biolink:Disease mondo SCTID:238872007|Orphanet:2500|OMIM:201200|GARD:0006543|ICD9:259.8|ICD10:L90.8|UMLS:C0406584|UMLS:C0238590|MESH:C538187 A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed. UMLS:C0238590|MESH:C538187|ORPHA:2500|UMLS:C0406584|http://identifiers.org/omim/201200|SNOMEDCT:238872007 http://purl.obolibrary.org/obo/MONDO_0008716 familial acrogeria|acrogeria, Gottron type|Gottron syndrome|acrometageria|acrogeria, Gottron type|Metageria ordo_malformation_syndrome MONDO:0008715 acrofrontofacionasal dysostosis biolink:Disease mondo GARD:0000484|ICD10:Q75.1|UMLS:C1860118|OMIM:201180|DOID:0060226|Orphanet:1784|MESH:C538186|SCTID:720408003 Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. MESH:C538186|SNOMEDCT:720408003|UMLS:C1860118|ORPHA:1784|http://identifiers.org/omim/201180|DOID:0060226 http://purl.obolibrary.org/obo/MONDO_0008715 cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly|acrofrontofacionasal dysostosis type 1|Affn dysostosis 1|Richieri-Costa-Colletto syndrome|polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate|polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate|acrofrontofacionasal dysostosis syndrome|acrofrontofacionasal dysostosis 1|AFFN dysostosis|acro fronto facio nasal dysostosis ordo_malformation_syndrome MONDO:0008714 acrofacial dysostosis Rodriguez type biolink:Disease mondo SCTID:720430002|MESH:C538183|ICD10:Q75.4|GARD:0000496|OMIM:201170|UMLS:C1860119|Orphanet:1788|DOID:0060383 Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth. SNOMEDCT:720430002|MESH:C538183|UMLS:C1860119|ORPHA:1788|http://identifiers.org/omim/201170|DOID:0060383 http://purl.obolibrary.org/obo/MONDO_0008714 Rodriguez lethal acrofacial dysostosis syndrome|acrofacial dysostosis, Rodríguez type|acrofacial dysostosis, syndrome of Rodriguez|acrofacial dysostosis syndrome of Rodriguez ordo_malformation_syndrome|gard_rare MONDO:0008713 acrodermatitis enteropathica biolink:Disease mondo GARD:0006343|MESH:C538178|NCIT:C128802|DOID:0050605|UMLS:C0221036|SCTID:37702000|GARD:0005723|ICD10:E83.2|OMIM:201100|ICD9:686.8|Orphanet:37 Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. ORPHA:37|MESH:C538178|SNOMEDCT:37702000|http://identifiers.org/omim/201100|DOID:0050605|UMLS:C0221036|NCIT:C128802 http://purl.obolibrary.org/obo/MONDO_0008713 AEZ|acrodermatitis enteropathica, zinc deficiency type|Danbolt-Cross syndrome|acrodermatitis enteropathica zinc deficiency type|acrodermatitis enteropathica, zinc-deficiency type; AEZ|ae|Brandt syndrome|acrodermatitis enteropathica, zinc-deficiency type|inherited zinc deficiency|enteropathica ordo_disease|gard_rare NCBITaxon:7524 Hemiptera organism taxon mondo GC_ID:1|PMID:7666451 http://purl.obolibrary.org/obo/NCBITaxon_7524 bugs MONDO:0008712 acrocraniofacial dysostosis biolink:Disease mondo UMLS:C1860145|Orphanet:949|GARD:0003075|SCTID:720418008|ICD10:Q87.0|OMIM:201050|MESH:C536892 Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. UMLS:C1860145|http://identifiers.org/omim/201050|SNOMEDCT:720418008|MESH:C536892|ORPHA:949 http://purl.obolibrary.org/obo/MONDO_0008712 acrocraniofacial dysostosis|Kaplan-Plauchu-Fitch syndrome|Kaplan Plauchu Fitch syndrome ordo_malformation_syndrome MONDO:0008711 Goodman syndrome biolink:Disease mondo MESH:C537287|ICD10:Q87.0|GARD:0002549|SCTID:720600004|OMIM:201020|Orphanet:65798 Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. ORPHA:65798|SNOMEDCT:720600004|MESH:C537287|http://identifiers.org/omim/201020 http://purl.obolibrary.org/obo/MONDO_0008711 ACPS 4|acrocephalopolysyndactyly type 4|acrocephalopolysyndactyly type IV|Goodman syndrome|ACPS4|Goodman camptodactyly ordo_malformation_syndrome|gard_rare MONDO:0008710 Carpenter syndrome 1 biolink:Disease mondo SCTID:205813009|OMIM:201000 Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene. http://identifiers.org/omim/201000|SNOMEDCT:205813009 http://purl.obolibrary.org/obo/MONDO_0008710 Carpenter syndrome|acrocephalopolysyndactyly type 2|Carpenter syndrome type 1|CRPT1|Carpenter syndrome caused by mutation in RAB23|RAB23 Carpenter syndrome|Carpenter syndrome 1|CARPENTER syndrome 1; CRPT1|ACPS 2 UBERON:0005352 spermatic cord biolink:AnatomicalEntity mondo The cord-like structure in males comprising the vas deferens and associated tissue that runs from the abdomen down to each testis[MP]. http://purl.obolibrary.org/obo/UBERON_0005352 spermatic chord|funiculus spermaticus HP:0025015 Abnormal vascular morphology biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0025015 CHEBI:32784 tyrosinate(1-) biolink:ChemicalSubstance mondo An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group. http://purl.obolibrary.org/obo/CHEBI_32784 hydrogen tyrosinate|tyrosine anion|tyrosinate(1-)|2-amino-3-(4-hydroxyphenyl)propanoate CHEBI:32785 tyrosinate(2-) biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_32785 tyrosinate|2-amino-3-(4-oxidophenyl)propanoate|tyrosinate(2-)|tyrosine dianion CHEBI:32786 tyrosinium biolink:ChemicalSubstance mondo An alpha-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group. http://purl.obolibrary.org/obo/CHEBI_32786 tyrosinium|1-carboxy-2-(4-hydroxyphenyl)ethanaminium|tyrosine cation HGNC:3767 FLT4 biolink:OntologyClass mondo http://identifiers.org/hgnc/3767 HGNC:3765 FLT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3765 UBERON:0005359 spinal cord ependyma biolink:AnatomicalEntity mondo the ependymal cell layer that lines the spinal cord http://purl.obolibrary.org/obo/UBERON_0005359 spinal cord ependymal layer|ependyma of central canal of spinal cord|spinal cord ventricular layer UBERON:0005358 ventricle of nervous system biolink:AnatomicalEntity mondo A layer in the central nervous system that lines system of communicating cavities in the brain and spinal cord. http://purl.obolibrary.org/obo/UBERON_0005358 ventricular layer|region of wall of ventricular system of neuraxis HGNC:1100 BRCA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1100 UBERON:0005357 brain ependyma biolink:AnatomicalEntity mondo the ependymal cell layer that lines the brain ventricles http://purl.obolibrary.org/obo/UBERON_0005357 ependyma of ventricular system of brain HGNC:3762 FLRT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3762 HGNC:1101 BRCA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1101 UBERON:0005356 Rathke's pouch biolink:AnatomicalEntity mondo A pouch of ectoderm that grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland[MP]. In embryogenesis, Rathke's pouch is a depression in the roof of the developing mouth in front of the buccopharyngeal membrane. It gives rise to the anterior pituitary (adenohypophysis), a part of the endocrine system[WP]. http://purl.obolibrary.org/obo/UBERON_0005356 pouch of Rathke|adenohypophysial pouch|craniopharyngeal pouch|Rathke's cleft|Rathkes pouch epithelium|hypophyseal diverticulum|Rathke's cyst|Rathke pouch|Rathke's pocket|pituitary diverticulum|craniobuccal pouch|nasohypophyseal pouch|hypophyseal pouch MONDO:0008709 acrocephalopolydactyly biolink:Disease mondo SCTID:720417003|UMLS:C3495588|OMIM:200995|ICD10:Q87.0|MESH:C573722|UMLS:CN201238|GARD:0002096|Orphanet:221054|GARD:0000486 Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. SNOMEDCT:720417003|ORPHA:221054|http://identifiers.org/omim/200995|MESH:C573722|UMLS:CN201238|UMLS:C3495588 http://purl.obolibrary.org/obo/MONDO_0008709 Elejalde syndrome|acrocephalopolydactylous dysplasia gard_rare|ordo_malformation_syndrome MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency biolink:Disease mondo ICD9:277.6|ICD10:E25.0|MESH:C535978|GARD:0005658|SCTID:124214007|MedDRA:10000002|UMLS:C0268292|OMIM:202010|NCIT:C131085|Orphanet:90795 Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. MEDDRA:10000002|SNOMEDCT:124214007|UMLS:C0268292|http://identifiers.org/omim/202010|ORPHA:90795|NCIT:C131085|MESH:C535978 http://purl.obolibrary.org/obo/MONDO_0008729 adrenal hyperplasia hypertensive form|CYP11B1 deficiency|adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency|adrenal hyperplasia 4|P450C11B1 deficiency|adrenal hyperplasia, hypertensive form|steroid 11-Beta-Hydroxylase deficiency|adrenal hyperplasia IV|CAH due to 11-beta-hydroxylase deficiency|11-Beta-Hydroxylase deficiency ordo_disease MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency biolink:Disease mondo ICD10:E25.0|SCTID:124221007|SCTID:717261006|GARD:0012665|Orphanet:90794|NCIT:C131087|GARD:0005757|UMLS:C4273964|OMIM:201910 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia. SNOMEDCT:717261006|ORPHA:90794|UMLS:C4273964|NCIT:C131087|SNOMEDCT:124221007|http://identifiers.org/omim/201910 http://purl.obolibrary.org/obo/MONDO_0008728 21 hydroxylase deficiency|adrenal hyperplasia 3|adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency|21-OHD|congenital adrenal hyperplasia due to 21-hydroxylase deficiency|hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency|CYP21 deficiency|classic 21-OHD CAH|21-hydroxylase deficiency|adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency|congenital adrenal hyperplasia 1 gard_rare|ordo_disease MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency biolink:Disease mondo GARD:0009152|NCIT:C131088|Orphanet:90791|SCTID:54470008|ICD10:E25.0|MESH:C538236|OMIM:201810 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. MESH:C538236|ORPHA:90791|NCIT:C131088|http://identifiers.org/omim/201810|SNOMEDCT:54470008 http://purl.obolibrary.org/obo/MONDO_0008727 type II 3-beta-hydroxysteroid dehydrogenase deficiency|3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF|CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency|adrenal hyperplasia 2|HSD3B deficiency|3b-hydroxysteroid dehydrogenase deficiency|3-Beta-HSD deficiency|adrenal hyperplasia II|adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency|adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency|3-beta HSD deficiency|3-Beta-hydroxysteroid dehydrogenase deficiency ordo_disease MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis biolink:Disease mondo Orphanet:63269|UMLS:C3150099|OMIM:201750 ORPHA:63269|UMLS:C3150099|http://identifiers.org/omim/201750 http://purl.obolibrary.org/obo/MONDO_0008726 ABS1|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; ABS1|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis|Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency biolink:Disease mondo OMIM:201710|Orphanet:90790|GARD:0001465|UMLS:C0342474|SCTID:44231009|ICD10:E25.0 Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. MESH:C537027|SNOMEDCT:44231009|ORPHA:90790|UMLS:C0342474|http://identifiers.org/omim/201710 http://purl.obolibrary.org/obo/MONDO_0008725 adrenal hyperplasia 1|lipoid congenital adrenal hyperplasia; LCAH|congenital adrenal hyperplasia lipoid|lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism|CLAH|lipoid congenital adrenal hyperplasia|LCAH ordo_disease MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type biolink:Disease mondo OMIM:201550|Orphanet:2952|ICD10:Q74.8 Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983. ORPHA:2952|http://identifiers.org/omim/201550 http://purl.obolibrary.org/obo/MONDO_0008724 adducted thumbs syndrome ordo_malformation_syndrome MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency biolink:Disease mondo OMIM:201475|SCTID:237997005|ICD10:E71.3|UMLS:C3887523|DOID:0080155|Orphanet:26793|ICD10:E71.310|NCIT:C98647|GARD:0005508 Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. DOID:0080155|UMLS:C3887523|ORPHA:26793|http://identifiers.org/omim/201475|NCIT:C98647|SNOMEDCT:237997005 http://purl.obolibrary.org/obo/MONDO_0008723 acyl-CoA dehydrogenase, very long-chain, deficiency OF; ACADVLD|very long-chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, very long-chain, deficiency OF|acyl-CoA dehydrogenase, very long-chain deficiency|ACADVLD|VLCAD deficiency|VLCAD|very long-chain acyl-Coenzyme A dehydrogenase deficiency|VLCADD clingen|ordo_disease MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency biolink:Disease mondo ICD10:E71.3|OMIM:201470|Orphanet:26792|GARD:0004822|NCIT:C84539|ICD10:E71.312|DOID:0080154|MESH:C537596 Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. DOID:0080154|MESH:C537596|http://identifiers.org/omim/201470|ORPHA:26792|NCIT:C84539 http://purl.obolibrary.org/obo/MONDO_0008722 Acads deficiency|ACADS deficiency|acyl-CoA dehydrogenase, short-chain, deficiency OF; ACADSD|SCADD|acyl-CoA dehydrogenase, short-chain, deficiency OF|SCAD|short-chain acyl-CoA dehydrogenase deficiency|Scad deficiency|short-chain acyl-CoA dehydrogenase deficiency (SCAD)|Scadh deficiency|SCAD deficiency|ACADSD|short-chain acyl-coenzyme A dehydrogenase deficiency|short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)|lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency|acyl-CoA dehydrogenase, short-chain deficiency clingen|ordo_disease|gard_rare MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency biolink:Disease mondo OMIM:201450|MESH:C536038|NCIT:C84538|ICD9:277.85|UMLS:C0220710|ICD10:E71.311|DOID:0080153|ICD10:E71.3|GARD:0000540|Orphanet:42|SCTID:128596003 Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. DOID:0080153|MESH:C536038|http://identifiers.org/omim/201450|SNOMEDCT:128596003|UMLS:C0220710|ORPHA:42|NCIT:C84538 http://purl.obolibrary.org/obo/MONDO_0008721 MCADD|medium-chain acyl-Coenzyme A dehydrogenase deficiency|Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency|Mcadh deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF|ACADMD|medium-chain acyl-CoA dehydrogenase deficiency|ACADM deficiency|acyl-CoA dehydrogenase medium chain deficiency of|MCAD deficiency|medium chain acyl-coenzyme A dehydrogenase deficiency|medium chain acyl CoA dehydrogenase deficiency|Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, medium-chain deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF; ACADMD|MCAD clingen|ordo_disease MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) biolink:Disease mondo OMIM:201400|ICD10:E23.6|HP:0011748|Orphanet:199296|MESH:C535668|GARD:0005727|ICD9:255.41|DOID:0080150|EFO:1001979|UMLS:C0342388|SCTID:237692001 A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. DOID:0080150|SNOMEDCT:237692001|UMLS:C0342388|http://identifiers.org/omim/201400|MESH:C535668|ORPHA:199296 http://purl.obolibrary.org/obo/MONDO_0008720 congenital isolated ACTH deficiency|isolated ACTH deficiency|ACTH deficiency, isolated|ACTH deficiency, isolated; IAD|isolated adrenocorticotropic hormone deficiency|IAD|adrenocorticotropic hormone deficiency ordo_disease UBERON:0005343 cortical plate biolink:AnatomicalEntity mondo The outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers[MP]. http://purl.obolibrary.org/obo/UBERON_0005343 CP|future cortical layers II-VI|CxP|neocortex cortical plate|cerebral cortex cortical plate|future neocortex UBERON:0005340 dorsal telencephalic commissure biolink:AnatomicalEntity mondo A fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure[MP]. http://purl.obolibrary.org/obo/UBERON_0005340 dorsal commissure HGNC:3778 FN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3778 CHEBI:17137 hydrogensulfite biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_17137 [SO2(OH)](-)|hydrosulfite anion|hydrogensulfite(1-)|bisulfite|Bisulfite|hydroxidodioxidosulfate(1-)|hydrogentrioxosulfate(1-)|HSO3(-)|hydrogen(trioxidosulfate)(1-)|hydrogentrioxosulfate(IV)|hydrogen sulfite(1-)|bisulphite|HSO3-|Hydrogen sulfite|monohydrogentrioxosulfate HGNC:3776 AFF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3776 HGNC:3775 FMR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3775 HP:0001051 Seborrheic dermatitis biolink:PhenotypicFeature mondo UMLS:C0036508|SNOMEDCT_US:50563003|UMLS:C3806554|SNOMEDCT_US:86708008|MSH:D012628 Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. http://purl.obolibrary.org/obo/HP_0001051 Seborrheic eczema|Seborrhea|Dysseborrheic dermatitis UBERON:0005344 peritoneal vaginal process biolink:AnatomicalEntity mondo A peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal. In the male it forms the tunica vaginalis testis and normally loses its connection with the peritoneal cavity; a persistent processus vaginalis in the female is known as the canal of Nuck[MP]. http://purl.obolibrary.org/obo/UBERON_0005344 vaginal process of the peritoneum|saccus vaginalis|peritoneal diverticulum|vaginal process of testis|vaginal process of peritoneum|processus vaginalis peritonei|processus vaginalis peritoneus|processus vaginalis|vaginal process|vaginal process of peritoneum|processus vaginalis peritonei masculinus HGNC:3771 FMO3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3771 NCBITaxon:7509 Siphonaptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7509 fleas|fleas UBERON:0005332 mesonephric S-shaped body biolink:AnatomicalEntity mondo The mesonephric S-shaped body is the successor of the mesonephric comma-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005332 HP:0001025 Urticaria biolink:PhenotypicFeature mondo SNOMEDCT_US:64305001|MEDDRA:10046735|MSH:D014581|UMLS:C0042109|SNOMEDCT_US:247472004|SNOMEDCT_US:126485001 Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. http://purl.obolibrary.org/obo/HP_0001025 Hives hposlim_core UBERON:0005331 mesonephric renal vesicle biolink:AnatomicalEntity mondo The renal vesicle is the primordial structure of the mesonephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO]. http://purl.obolibrary.org/obo/UBERON_0005331 mesonephric vesicle HP:0001022 Albinism biolink:PhenotypicFeature mondo MSH:D000417|UMLS:C0001916|UMLS:C0333913|SNOMEDCT_US:18064000|SNOMEDCT_US:15890002 An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). http://purl.obolibrary.org/obo/HP_0001022 Achromasia|Albinism UBERON:0005330 mesonephric nephron epithelium biolink:AnatomicalEntity mondo The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005330 UBERON:0007997 sesamoid bone of manus biolink:AnatomicalEntity mondo A sesamoid bone that is part of a manus. http://purl.obolibrary.org/obo/UBERON_0007997 sesamoid bone of hand CHEBI:32760 L-tyrosinate(1-) biolink:ChemicalSubstance mondo An optically active form of tyrosinate having L-configuration. http://purl.obolibrary.org/obo/CHEBI_32760 hydrogen L-tyrosinate|L-tyrosine anion|L-tyrosine monoanion|(2S)-2-amino-3-(4-hydroxyphenyl)propanoate|L-tyrosinate(1-) CHEBI:32761 L-tyrosinate(2-) biolink:ChemicalSubstance mondo The L-enantiomer of tyrosinate(2-). http://purl.obolibrary.org/obo/CHEBI_32761 L-tyrosinate|(2S)-2-amino-3-(4-oxidophenyl)propanoate|L-tyrosinate(2-)|L-tyrosine dianion CHEBI:32762 L-tyrosinium biolink:ChemicalSubstance mondo An optically active form of tyrosinium having L-configuration. http://purl.obolibrary.org/obo/CHEBI_32762 L-tyrosine cation|L-tyrosinium|(1S)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium NCBITaxon:7511 Pulicidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7511 common fleas CHEBI:30102 diazynium biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_30102 diazynium|HN2+|N#NH(+) UBERON:0005339 outflow tract pulmonary component biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005339 UBERON:0005338 outflow tract aortic component biolink:AnatomicalEntity mondo An outflow tract that is part of a aorta. http://purl.obolibrary.org/obo/UBERON_0005338 UBERON:0005337 outflow tract of ventricle biolink:AnatomicalEntity mondo A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. http://purl.obolibrary.org/obo/UBERON_0005337 heart ventricle outflow tract|outflow part of ventricle|ventricular outflow tract HGNC:1122 BTD biolink:OntologyClass mondo http://identifiers.org/hgnc/1122 UBERON:0005334 oral lamina propria biolink:AnatomicalEntity mondo A lamina propria that is part of a mucosa of oral region. http://purl.obolibrary.org/obo/UBERON_0005334 lamina propria of oral mucosa UBERON:0005333 mammary bud biolink:AnatomicalEntity mondo A bulb of epithelial cells that forms from the mammary placode that develops into the mammary gland. http://purl.obolibrary.org/obo/UBERON_0005333 lactiferous gland bud|mammary primordium|milk bud|mammary gland bud MONDO:0008708 acrocallosal syndrome biolink:Disease mondo SCTID:715951007|MESH:D055673|OMIM:200990|Orphanet:36|GARD:0005721|ICD10:Q04.0|DOID:9250|NCIT:C84531|UMLS:C0796147 Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. SNOMEDCT:715951007|http://identifiers.org/omim/200990|DOID:9250|ORPHA:36|NCIT:C84531|UMLS:C0796147|MESH:D055673 http://purl.obolibrary.org/obo/MONDO_0008708 Joubert syndrome 12|acrocallosal syndrome|hallux Duplication, postaxial polydactyly, and absence of corpus callosum|Schinzel syndrome 1|acrocallosal syndrome; ACLS|Joubert syndrome 12/15, digenic|acrocallosal syndrome, Schinzel type|Schinzel acrocallosal syndrome|absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly|ACLS|ACS ordo_malformation_syndrome MONDO:0008707 acro-renal-mandibular syndrome biolink:Disease mondo Orphanet:958|ICD10:Q87.8|UMLS:C1860166|OMIM:200980|GARD:0000480|SCTID:720414005|MESH:C535665 Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. MESH:C535665|http://identifiers.org/omim/200980|SNOMEDCT:720414005|UMLS:C1860166|ORPHA:958 http://purl.obolibrary.org/obo/MONDO_0008707 acrorenal-uterine-mandibular syndrome|acrorenal mandibular syndrome|split hand split foot mandibular hypoplasia|acro-renal-uterine-mandibular syndrome|acrorenal-mandibular syndrome|split-hand and split-foot with mandibular hypoplasia|split hand/split foot-mandibular hypoplasia syndrome ordo_malformation_syndrome MONDO:0008706 Ackerman syndrome biolink:Disease mondo SCTID:722280000|UMLS:C1860167|OMIM:200970|MESH:C538170|ICD10:K00.2|Orphanet:2561|GARD:0000469 Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. http://identifiers.org/omim/200970|SNOMEDCT:722280000|MESH:C538170|ORPHA:2561|UMLS:C1860167 http://purl.obolibrary.org/obo/MONDO_0008706 pyramidal molar-glaucoma-upper abnormal lip syndrome|molar roots, pyramidal, with juvenile glaucoma and unusual upper lip|Ackerman fused molar rooth syndrome|juvenile glaucoma with unusual upper lip and dental roots|Ackerman syndrome|pyramidal molars, glaucoma, abnormal upper lip|glaucoma, juvenile, with unusual upper lip and dental roots gard_rare|ordo_malformation_syndrome MONDO:0008705 lysosomal acid phosphatase deficiency biolink:Disease mondo Orphanet:35121|ICD9:277.6|SCTID:57863006|OMIM:200950|ICD10:E83.3|MESH:C562645|UMLS:C0268410 ORPHA:35121|http://identifiers.org/omim/200950|SNOMEDCT:57863006|MESH:C562645|UMLS:C0268410 http://purl.obolibrary.org/obo/MONDO_0008705 lysosomal acid phosphatase deficiency|acid phosphatase deficiency ordo_disease MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency biolink:Disease mondo UMLS:C1860168|OMIM:200900|GARD:0002988|MESH:C565984|Orphanet:935|ICD10:D82.2|GARD:0000463 Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. UMLS:C2931087|http://identifiers.org/omim/200900|UMLS:C1860168|MESH:C536020|ORPHA:935|MESH:C565984 http://purl.obolibrary.org/obo/MONDO_0008704 agammaglobulinemia and achondroplasia|achondroplasia-severe combined immunodeficiency syndrome|achondroplasia and Swiss-type agammaglobulinemia|achondroplasia, so-called, and severe combined immunodeficiency|achondroplasia and Swiss type agammaglobulinemia|immunodeficiency-short limb dwarfism syndrome|short limb skeletal dysplasia with SCID|achondroplasia-SCID syndrome|SLSD with SCID|achondroplasia so-called and severe combined immunodeficiency|achondroplasia-Swiss type agammaglobulinemia syndrome|achondroplasia and severe combined immunodeficiency|short-limb skeletal dysplasia with severe combined immunodeficiency|Slsd with SCID gard_rare|ordo_disease MONDO:0008703 acromesomelic dysplasia, Grebe type biolink:Disease mondo OMIM:200700|DOID:0080052|GARD:0001300|ICD10:Q78.8|Orphanet:2098|NCIT:C3816|UMLS:C0265260 Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. http://identifiers.org/omim/200700|ORPHA:2098|NCIT:C3816|DOID:0080052|UMLS:C0265260 http://purl.obolibrary.org/obo/MONDO_0008703 GREBE chondrodysplasia|achondrogenesis, Brazilian|hypochondrogenesis|chondrodysplasia, Grebe type|Grebe chondrodysplasia|achondrogenesis type II (formerly)|achondrogenesis, type II, formerly|chondrodysplasia, GREBE type|AMDG|achondrogenesis, type II|acromesomelic dysplasia, Grebe type|Grebe dysplasia|type II achondrogenesis|Brazilian achondrogenesis|Grebe syndrome|Langer-Saldino achondrogenesis ordo_malformation_syndrome MONDO:0008702 achondrogenesis type II biolink:Disease mondo OMIM:200610|ICD10:Q77.0|GARD:0008713|MESH:C536017|Orphanet:93296|DOID:0080056 Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. UMLS:C0220685|ORPHA:93296|DOID:0080056|MESH:C536017|http://identifiers.org/omim/200610 http://purl.obolibrary.org/obo/MONDO_0008702 achondrogenesis, type II; ACG2|ACG2|achondrogenesis, type IB, formerly|achondrogenesis, type II|achondrogenesis, type IB|chondrogenesis imperfecta|achondrogenesis, type 2|hypochondrogenesis|achondrogenesis, Langer-Saldino type|achondrogenesis type 2 ordo_clinical_subtype MONDO:0008701 achondrogenesis type IA biolink:Disease mondo OMIM:200600|GARD:0000459|ICD10:Q77.0|ICD9:756.9|Orphanet:93299|SCTID:42725006|MESH:C536015|DOID:0080054 Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. ORPHA:93299|DOID:0080054|MESH:C536015|SNOMEDCT:42725006|UMLS:C0265273|http://identifiers.org/omim/200600 http://purl.obolibrary.org/obo/MONDO_0008701 achondrogenesis, Houston-Harris type|achondrogenesis type 1A|achondrogenesis, type IA|achondrogenesis, type 1A|achondrogenesis, type IA; ACG1A|ACG1A|achondrogenesis Houston-Harris type|Houston-Harris achondrogenesis ordo_clinical_subtype UBERON:0005319 mesonephric collecting duct biolink:AnatomicalEntity mondo The collecting duct is the final common path through which urine flows before entering the ureter and then emptying into the bladder[GO]. http://purl.obolibrary.org/obo/UBERON_0005319 MONDO:0008700 acheiropody biolink:Disease mondo GARD:0000376|DOID:0050603|Orphanet:931|OMIM:200500|SCTID:177504007|MESH:C536014|ICD10:Q74.8 Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. MESH:C536014|SNOMEDCT:177504007|UMLS:C0265559|DOID:0050603|ORPHA:931|http://identifiers.org/omim/200500 http://purl.obolibrary.org/obo/MONDO_0008700 acheiropody|ACHP|horn-Kolb syndrome|acheiropody, Brazilian type|acheiropodia|acheiropody; ACHP ordo_morphological_anomaly NCBITaxon:43786 Culicomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43786 NCBITaxon:43787 Psychodomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43787 UBERON:0005321 mesonephric smooth muscle tissue biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0005321 HGNC:3791 FOLR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3791 CHEBI:32773 D-tyrosinate(1-) biolink:ChemicalSubstance mondo An optically active form of tyrosinate(1-) having D-configuration. http://purl.obolibrary.org/obo/CHEBI_32773 D-tyrosine monoanion|D-tyrosinate(1-)|hydrogen D-tyrosinate|(2R)-2-amino-3-(4-hydroxyphenyl)propanoate CHEBI:32774 D-tyrosinate(2-) biolink:ChemicalSubstance mondo The D-enantiomer of tyrosinate(2-). http://purl.obolibrary.org/obo/CHEBI_32774 D-tyrosinate(2-)|D-tyrosine dianion|(2R)-2-amino-3-(4-oxidophenyl)propanoate|D-tyrosinate CHEBI:32775 D-tyrosinium biolink:ChemicalSubstance mondo An optically active form of tyrosinium having D-configuration. http://purl.obolibrary.org/obo/CHEBI_32775 (1R)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium|D-tyrosine cation|D-tyrosinium UBERON:0005328 mesonephric comma-shaped body biolink:AnatomicalEntity mondo The mesonephric comma-shaped body is the precursor structure to the mesonephric S-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005328 UBERON:0005327 mesonephric glomerular epithelium biolink:AnatomicalEntity mondo A mesonephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the mesonephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005327 UBERON:0005326 mesonephric glomerulus vasculature biolink:AnatomicalEntity mondo The mesonephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the mesonephric glomerulus[GO]. http://purl.obolibrary.org/obo/UBERON_0005326 HGNC:1133 BTK biolink:OntologyClass mondo http://identifiers.org/hgnc/1133 UBERON:0005325 mesonephric glomerulus biolink:AnatomicalEntity mondo The mesonephric glomerulus is a capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the mature vertebrate kidney, or mesonephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005325 glomerulus UBERON:0005323 mesonephric mesenchyme biolink:AnatomicalEntity mondo Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005323 UBERON:0005322 mesonephric nephron biolink:AnatomicalEntity mondo A nephron that is part of a mesonephros. http://purl.obolibrary.org/obo/UBERON_0005322 stage IV nephron|nephron of mesonephros MONDO:0008759 oxoglutaricaciduria biolink:Disease mondo UMLS:C2752074|GARD:0000617|MESH:C536582|SCTID:733630004|OMIM:203740|Orphanet:31|ICD10:E88.8 Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. SNOMEDCT:733630004|http://identifiers.org/omim/203740|UMLS:C2752074|MESH:C536582|ORPHA:31 http://purl.obolibrary.org/obo/MONDO_0008759 Oxoglutaric aciduria|Alpha KGD deficiency|2-ketoglutarate dehydrogenase deficiency|Alpha-ketoglutarate dehydrogenase deficiency|2 alpha ketoglutarate dehydrogenase deficiency|Alpha-Kgd deficiency|ALPHA-ketoglutarate dehydrogenase deficiency ordo_disease MONDO:0008758 mitochondrial DNA depletion syndrome 4a biolink:Disease mondo SCTID:20415001|ICD10:G31.81|DOID:0080122|DOID:1442|MedDRA:10062943|OMIM:203700|ICD10:G31.8|ICD9:330.8|NCIT:C35257|Orphanet:726|UMLS:C0205710|GARD:0005783 Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. MESH:D002549|NCIT:C35257|SNOMEDCT:20415001|DOID:0080122|http://identifiers.org/omim/203700|ORPHA:726|UMLS:C0205710|MEDDRA:10062943|DOID:1442 http://purl.obolibrary.org/obo/MONDO_0008758 PNDC|Alpers-Huttenlocher syndrome|Alpers Huttenlocher syndrome|mitochondrial DNA depletion syndrome 4A (Alpers type)|Poliodystrophia cerebri progressiva|Alpers progressive infantile poliodystrophy|AHD|Alpers Huttenlocher disease|AHS|infantile poliodystrophy|progressive sclerosing poliodystrophy|diffuse cerebral degeneration in infancy|Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis|Alpers progressive sclerosing poliodystrophy|Alpers syndrome|Alper's syndrome|Alpers' disease or gray-matter degeneration|mitochondrial DNA depletion syndrome type 4a|mitochondrial DNA depletion syndrome 4A (Alpers type); MTDPS4A|MTDPS4A|progressive neuronal degeneration of childhood with liver disease|Alper syndrome|mitochondrial DNA depletion syndrome 4A|neuronal Degeneration of childhood with liver disease, progressive|Alpers disease|progressive cerebral poliodystrophy ordo_disease MONDO:0008757 alopecia universalis biolink:Disease mondo SCTID:86166000|DOID:0050634|ICD9:704.09|ICD10:L63.1|UMLS:C0263505|GARD:0000614|MESH:C537055|MedDRA:10001767|Orphanet:701|OMIM:203655 Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body. MESH:C537055|http://identifiers.org/omim/203655|ORPHA:701|DOID:0050634|SNOMEDCT:86166000|UMLS:C0263505|MEDDRA:10001767 http://purl.obolibrary.org/obo/MONDO_0008757 atrichia, generalized|alopecia universalis congenita; ALUNC|alopecia areata universalis|ALUNC|alopecia universalis congenita|AU ordo_disease MONDO:0008756 alopecia - intellectual disability syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:2850|GARD:0000612|OMIMPS:203650|SCTID:716191002 Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. ORPHA:2850|SNOMEDCT:716191002 http://purl.obolibrary.org/obo/MONDO_0008756 alopecia-intellectual disability syndrome|alopecia intellectual disbility syndrome 1|AMR syndrome 1|alopecia with severe intellectual deficit|alopecia-mental retardation syndrome|Perniola-Krajewska-Carnevale syndrome|Amr syndrome ordo_disease MONDO:0008755 Moynahan syndrome biolink:Disease mondo ICD10:G40.4|OMIM:203600|Orphanet:2574|MESH:C537052|GARD:0000606 ORPHA:2574|UMLS:C0265328|http://identifiers.org/omim/203600|MESH:C537052 http://purl.obolibrary.org/obo/MONDO_0008755 alopecia-epilepsy-intellectual disability syndrome, Moynahan type|alopecia-epilepsy-oligophrenia syndrome of Moynahan|Moynahan alopecia syndrome|alopecia epilepsy oligophrenia syndrome of Moynahan ordo_malformation_syndrome MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome biolink:Disease mondo Orphanet:1005|UMLS:C0795895|ICD10:Q87.8|MESH:C537051|GARD:0000605|OMIM:203550 Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. http://identifiers.org/omim/203550|UMLS:C0795895|MESH:C537051|ORPHA:1005 http://purl.obolibrary.org/obo/MONDO_0008754 ACD intellectual disability syndrome|ACD-intellectual disability syndrome|alopecia-contractures-dwarfism intellectual disability syndrome|alopecia-contractures-dwarfism mental retardation syndrome|ACD mental retardation syndrome ordo_malformation_syndrome|gard_rare MONDO:0008753 alkaptonuria biolink:Disease mondo UMLS:C0002066|NCIT:C84546|DOID:9270|ICD9:270.2|GARD:0005775|OMIM:203500|MESH:D000474|UMLS:C2931645|MedDRA:10001689|SCTID:360378009|Orphanet:56|ICD10:E70.2|ICD10:E70.29 Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). http://identifiers.org/omim/203500|MESH:D000474|MESH:C537862|SNOMEDCT:360378009|DOID:9270|ORPHA:56|NCIT:C84546|UMLS:C2931645|MEDDRA:10001689|UMLS:C0002066 http://purl.obolibrary.org/obo/MONDO_0008753 hereditary ochronosis|homogentisic acid oxidase deficiency|alkaptonuria|alcaptonuria|alkaptonuric ochronosis|aku|deficiency of homogentisicase|ochronosis, hereditary|homogentisic acidura|homogentisate 1,2-dioxygenase deficiency|alkaptonuria; aku ordo_disease|gard_rare NCBITaxon:41197 Heteroneura organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41197 MONDO:0008752 Alexander disease biolink:Disease mondo UMLS:C0270726|OMIM:203450|Orphanet:58|SCTID:81854007|MESH:D038261|GARD:0005774|NCIT:C84545|DOID:4252|ICD10:E75.2 Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. UMLS:C0270726|DOID:4252|SNOMEDCT:81854007|ORPHA:58|NCIT:C84545|MESH:D038261|http://identifiers.org/omim/203450 http://purl.obolibrary.org/obo/MONDO_0008752 megalencephaly in infancy accompanied by progressive spasticity and dementia|alexanders leukodystrophy|ALXDRD|Alexander disease|Alexander disease; ALXDRD|AxD|Alexander's disease gard_rare|ordo_disease NCBITaxon:41196 Neolepidoptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41196 MONDO:0008751 corticosterone methyloxidase type 1 deficiency biolink:Disease mondo SCTID:47757001|OMIM:203400|GARD:0005660|UMLS:CN074214 SNOMEDCT:47757001|UMLS:CN074214|http://identifiers.org/omim/203400 http://purl.obolibrary.org/obo/MONDO_0008751 corticosterone 18-monooxygenase deficiency|CMO 1 deficiency|corticosterone methyl oxidase type I deficiency|18-Hydroxylase deficiency|corticosterone methyloxidase type I deficiency|18 alpha hydroxylase deficiency|aldosterone deficiency due to defect in 18 hydroxylase|hyperreninemic hypoaldosteronism, familial, 1|aldosterone deficiency due to 18-hydroxylase defect|18 Hydroxylase deficiency|steroid 18-hydroxylase deficiency|CAH - 18-hydroxylase deficiency|CMO II deficiency|aldosterone deficiency due to defect in steroid 18-Hydroxylase|CMO I deficiency|18-hydroxycorticosterone dehydrogenase deficiency|aldosterone deficiency 1|corticosterone methyloxidase type 1 deficiency|18-hydroxylase deficiency|aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency|corticosterone methyl oxidase type II deficiency gard_rare MONDO:0008750 microcephaly-albinism-digital anomalies syndrome biolink:Disease mondo Orphanet:2513|SCTID:719377004|MESH:C537322|ICD10:Q87.8|UMLS:C1859910|GARD:0003604|OMIM:203340 Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. SNOMEDCT:719377004|UMLS:C1859910|ORPHA:2513|http://identifiers.org/omim/203340|MESH:C537322 http://purl.obolibrary.org/obo/MONDO_0008750 albinism-microcephaly-digital anomalies syndrome|Castro Gago-Pombo-Novo syndrome|albinism-microcephaly digital anomalies syndrome|microcephaly-albinism-digital anomalies syndrome gard_rare|ordo_malformation_syndrome NCBITaxon:41191 Glossata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41191 UBERON:0005398 female reproductive gland biolink:AnatomicalEntity mondo A sex gland that is part of a female reproductive system. http://purl.obolibrary.org/obo/UBERON_0005398 UBERON:0005397 brain arachnoid mater biolink:AnatomicalEntity mondo An arachnoid mater that surrounds a brain. http://purl.obolibrary.org/obo/UBERON_0005397 arachnoidea mater cranialis|brain arachnoid matter|cranial arachnoid mater|arachnoidea mater encephali UBERON:0005396 carotid artery segment biolink:AnatomicalEntity mondo One of: the common carotid artery, or its branches, the external and internal carotid arteries. http://purl.obolibrary.org/obo/UBERON_0005396 carotid artery|subdivision of common carotid artery|carotid|common carotid arterial subdivision NCBITaxon:112252 Fungi incertae sedis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_112252 MONDO:0021722 vulvodynia biolink:Disease mondo ICD9:625.70|SCTID:238968009|MESH:D056650 Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months. SNOMEDCT:238968009|MESH:D056650 http://purl.obolibrary.org/obo/MONDO_0021722 vulvodynia MONDO:0021723 vaginismus biolink:Disease mondo ICD10:N94.2|UMLS:C2004487|MESH:D052065 Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection. MESH:D052065|UMLS:C2004487|NCIT:C78703 http://purl.obolibrary.org/obo/MONDO_0021723 myalgia of pelvic floor|vaginismus HGNC:1149 BUB1B biolink:OntologyClass mondo http://identifiers.org/hgnc/1149 HP:0001080 Biliary tract abnormality biolink:PhenotypicFeature mondo MSH:D001660|UMLS:C0005424|UMLS:C0549613|SNOMEDCT_US:105997008 An abnormality of the biliary tree. http://purl.obolibrary.org/obo/HP_0001080 Biliary tract disease MONDO:0021725 obsolete Abderhalden-Kaufmann-Lignac syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021725 MONDO:0021726 abdominal cystic lymphangioma biolink:Disease mondo MESH:C535553|UMLS:C2930929|GARD:0000439 Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.. MESH:C535553|UMLS:C2930929 http://purl.obolibrary.org/obo/MONDO_0021726 RCL|abdomen cystic lymphangioma|abdominal retroperitoneal lymphangioma|retroperitoneal cystic lymphangioma gard_rare MONDO:0021727 aberrant subclavian artery biolink:Disease mondo MESH:C535555|UMLS:C2936828|GARD:0005706|SCTID:93353003 Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.. SNOMEDCT:93353003|MESH:C535555|UMLS:C2936828 http://purl.obolibrary.org/obo/MONDO_0021727 aberrant left subclavian artery|aberrant right subclavian artery|aberrant subclavian artery|congenital malposition of subclavian artery|congenital malpositioned subclavian artery gard_rare HGNC:1142 BTNL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1142 UBERON:0005399 male reproductive gland biolink:AnatomicalEntity mondo A sex gland that is part of a male reproductive system. http://purl.obolibrary.org/obo/UBERON_0005399 accessory sex gland MONDO:0006109 malignant biphasic mesothelioma biolink:Disease mondo EFO:1000124|ICDO:9053/3|DOID:4486|UMLS:C0334515|NCIT:C4282 A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features. DOID:4486|NCIT:C4282|UMLS:C0334515 http://purl.obolibrary.org/obo/MONDO_0006109 mesothelioma, biphasic, malignant|malignant mixed mesothelioma|biphasic mesothelioma|malignant biphasic mesothelioma, malignant|mixed mesothelioma|mesothelioma, biphasic, malignant (morphologic abnormality)|malignant biphasic mesothelioma MONDO:0006107 benign thyroid gland neoplasm biolink:Disease mondo EFO:1000122|NCIT:C3628|ICD9:226|SCTID:92439006|COHD:141249|UMLS:C0154038 A benign neoplasm arising from the thyroid gland. SNOMEDCT:92439006|UMLS:C0154038|NCIT:C3628 http://purl.obolibrary.org/obo/MONDO_0006107 benign neoplasm of the thyroid|thyroid neoplasm, benign|benign thyroid gland tumor|benign tumor of the thyroid gland|benign thyroid gland neoplasm|benign thyroid neoplasm NOS|benign neoplasm of thyroid|benign tumor of thyroid gland|benign thyroid tumor|benign tumor of the thyroid|benign tumor of thyroid|benign neoplasm of thyroid glands|thyroid gland benign neoplasm|benign neoplasm of the thyroid gland|benign thyroid neoplasm|benign neoplasm of thyroid gland MONDO:0008769 neuronal ceroid lipofuscinosis 2 biolink:Disease mondo DOID:0110726|ICD10:E75.4|NCIT:C85864|OMIM:204500|GARD:0003045|Orphanet:228349 A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. DOID:0110726|NCIT:C85864|ORPHA:228349|http://identifiers.org/omim/204500 http://purl.obolibrary.org/obo/MONDO_0008769 late infantile neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis type 2|TPP1 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 2; CLN2|CLN2 disease, juvenile (subtype)|neuronal ceroid lipofuscinosis, late infantile|neuronal ceroid lipofuscinosis 2 variable age at onset|ceroid lipofuscinosis, neuronal, 2|CLN2|ceroid lipofuscinosis, neuronal, 2, variable Age at onset|Jansky-Bielschowsky disease|ceroid lipofuscinosis, neuronal, type 2|neuronal ceroid lipofuscinosis caused by mutation in TPP1|CLN2 disease, late infantile (subtype)|CLN2 disease ordo_etiological_subtype MONDO:0006108 bile duct adenoma biolink:Disease mondo UMLS:C0008309|NCIT:C2942|EFO:1000123|SCTID:424091006|ICDO:8160/0|DOID:5381|MESH:D002759 A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction. MESH:D002759|NCIT:C2942|DOID:5381|UMLS:C0008309|SNOMEDCT:424091006 http://purl.obolibrary.org/obo/MONDO_0006108 bile duct adenoma (morphologic abnormality)|Cholangioadenoma|CHOLANGIOMA, benign|Hepatocholangioma|Hepatocholangiocellular adenoma|adenoma of the bile duct|adenoma of bile duct|Cholangioma|bile duct adenoma MONDO:0021720 fetal alcohol spectrum disorders biolink:Disease mondo GARD:0000599|UMLS:CN036067|MESH:D063647 An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ethanol during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, fetal growth retardation, central nervous system abnormalities, cognitive and/or behavioral dysfunction, birth defects. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity. UMLS:CN036067|MESH:D063647 http://purl.obolibrary.org/obo/MONDO_0021720 partial fetal alcohol syndrome|FASD|alcohol-related neurodevelopmental disorder (ARND) - type|alcohol related neurodevelopmental disorder|alcohol-related birth defects|fetal alcohol syndrome (FAS) - type|FAE (fetal alcohol effects)|alcohol related birth defects|FAEs (fetal alcohol effects)|syndrome, fetal alcohol|growth retardation, facial abnormalities, and central nervous system dysfunction|alcohol-related birth defects (ARBD) - type|FASDs|birth defects, alcohol-related|fetal alcohol syndrome gard_rare MONDO:0008768 neuronal ceroid lipofuscinosis 4A biolink:Disease mondo OMIM:204300|ICD10:E75.4|GARD:0006845|DOID:0110730|Orphanet:228340 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene. DOID:0110730|ORPHA:228340|http://identifiers.org/omim/204300 http://purl.obolibrary.org/obo/MONDO_0008768 CLN4A disease|Kuf's disease, autosomal recessive|ceroid lipofuscinosis, neuronal, 4A, autosomal recessive; CLN4A|Kuf's disease type A|autosomal recessive neuronal ceroid lipofuscinosis 4A|CLN6 neuronal ceroid lipofuscinosis|adult neuronal ceroid lipofuscinosis 4A|ceroid lipofuscinosis, neuronal, 4A, autosomal recessive|neuronal ceroid lipofuscinosis caused by mutation in CLN6|CLN4A|neuronal ceroid lipofuscinosis type 4A ordo_etiological_subtype MONDO:0006105 benign conjunctival neoplasm biolink:Disease mondo COHD:373982|EFO:1000110|SCTID:92068002|NCIT:C3622|UMLS:C0154025 Abnormal growth of the cells of the conjunctiva without malignant characteristics. UMLS:C0154025|SNOMEDCT:92068002|NCIT:C3622 http://purl.obolibrary.org/obo/MONDO_0006105 benign neoplasm of the conjunctiva|benign neoplasm of conjunctiva|benign conjunctiva tumor|benign tumor of the conjunctiva|benign tumor of conjunctiva|benign conjunctival tumor|benign conjunctival neoplasm|conjunctiva benign neoplasm|benign conjunctiva neoplasm MONDO:0006106 benign smooth muscle neoplasm biolink:Disease mondo EFO:1000121|UMLS:C1332539|NCIT:C6510 A benign mesenchymal neoplasm arising from smooth muscle tissue. UMLS:C1332539|NCIT:C6510 http://purl.obolibrary.org/obo/MONDO_0006106 benign neoplasm of smooth muscle|benign smooth muscle tumor|benign tumor of the smooth muscle|benign tumor of smooth muscle|benign smooth muscle neoplasm|smooth muscle tissue benign neoplasm|benign neoplasm of the smooth muscle MONDO:0008767 neuronal ceroid lipofuscinosis 3 biolink:Disease mondo OMIM:204200|GARD:0005897|DOID:0110731|Orphanet:228346|NCIT:C61258|ICD10:E75.4 A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. NCIT:C61258|DOID:0110731|ORPHA:228346|http://identifiers.org/omim/204200 http://purl.obolibrary.org/obo/MONDO_0008767 CLN3 neuronal ceroid lipofuscinosis|Spielmeyer-Sjogren disease|CLN3|neuronal ceroid lipofuscinosis type 3|neuronal ceroid lipofuscinosis, juvenile|Spielmeyer Sjogren disease|batten disease|ceroid lipofuscinosis, neuronal, 3|Vogt Spielmeyer disease|ceroid lipofuscinosis, neuronal, type 3|CLN3 disease|Vogt-Spielmeyer disease|CLN3 disease, juvenile|ceroid lipofuscinosis, neuronal, 3; CLN3|juvenile neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in CLN3 ordo_etiological_subtype MONDO:0006103 benign adrenal gland pheochromocytoma biolink:Disease mondo NCIT:C48305|EFO:1000106 A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral. NCIT:C48305 http://purl.obolibrary.org/obo/MONDO_0006103 pheochromocytoma, benign|benign adrenal gland pheochromocytoma|adrenal gland pheochromocytoma, benign MONDO:0008766 amaurosis-hypertrichosis syndrome biolink:Disease mondo OMIM:204110|Orphanet:1021|MESH:C536604|GARD:0000637|SCTID:720983002|ICD10:H35.5 Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents. MESH:C536604|http://identifiers.org/omim/204110|SNOMEDCT:720983002|ORPHA:1021|UMLS:C1857588 http://purl.obolibrary.org/obo/MONDO_0008766 amaurosis congenita cone-rod type with congenital hypertrichosis|amaurosis congenita, cone-rod type, with congenital hypertrichosis ordo_disease|gard_rare MONDO:0008765 Leber congenital amaurosis 2 biolink:Disease mondo ICD10:H35.5|MESH:C536601|OMIM:204100|DOID:0110016|UMLS:C1859844|GARD:0000636 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene. MESH:C536601|DOID:0110016|http://identifiers.org/omim/204100|UMLS:C1859844 http://purl.obolibrary.org/obo/MONDO_0008765 Leber congenital amaurosis type 2|Leber congenital amaurosis caused by mutation in RPE65|amaurosis congenita of Leber II|Leber congenital amaurosis 2|LCA2|amaurosis congenita of Leber, type 2|Leber congenital amaurosis 2; LCA2|RPE65 Leber congenital amaurosis|amaurosis congenita of Leber 2 gard_rare MONDO:0006104 benign carotid body paraganglioma biolink:Disease mondo UMLS:C2698359|EFO:1000108|NCIT:C79950 A carotid body paraganglioma that is confined to the site of origin, without metastatic potential. UMLS:C2698359|NCIT:C79950 http://purl.obolibrary.org/obo/MONDO_0006104 benign chemodectoma|carotid body paraganglioma, benign|chemodectoma, benign|benign carotid body paraganglioma MONDO:0008764 Leber congenital amaurosis 1 biolink:Disease mondo ICD10:H35.5|OMIM:204000|DOID:0110078|GARD:0000635 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene. DOID:0110078|http://identifiers.org/omim/204000 http://purl.obolibrary.org/obo/MONDO_0008764 Leber congenital amaurosis caused by mutation in GUCY2D|retinal blindness, congenital|Leber congenital amaurosis 1|amaurosis congenita of Leber, type 1|Leber congenital amaurosis 1; LCA1|GUCY2D Leber congenital amaurosis|amaurosis congenita of Leber I|LCA1|CRB|LCA|amaurosis congenita of Leber 1|Leber congenital amaurosis type 1 MONDO:0006101 obsolete Bartholin gland squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006101 MONDO:0008763 Alstrom syndrome biolink:Disease mondo NCIT:C84549|Orphanet:64|MESH:D056769|DOID:0050473|UMLS:C0268425|ICD9:759.89|GARD:0005787|OMIM:203800|MedDRA:10068783|SCTID:63702009|ICD10:Q87.8 AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. DOID:0050473|SNOMEDCT:63702009|ORPHA:64|NCIT:C84549|MEDDRA:10068783|UMLS:C0268425|MESH:D056769|http://identifiers.org/omim/203800 http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome|Alss|alms|Alstrom's syndrome|Alstrom syndrome; alms|Alström syndrome ordo_disease MONDO:0006102 basaloid carcinoma biolink:Disease mondo ICDO:8123/3|NCIT:C4121|EFO:1000105 A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading. NCIT:C4121 http://purl.obolibrary.org/obo/MONDO_0006102 basaloid carcinoma MONDO:0008762 autosomal recessive Alport syndrome biolink:Disease mondo SCTID:717767009|OMIM:203780|MedDRA:10001843|DOID:0110033|GARD:0000625|ICD10:Q87.8|Orphanet:88919 Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. UMLS:C1567744|MESH:C536587|DOID:0110033|SNOMEDCT:717767009|MEDDRA:10001843|ORPHA:88919|http://identifiers.org/omim/203780 http://purl.obolibrary.org/obo/MONDO_0008762 Alport syndrome, autosomal recessive|Alport syndrome autosomal recessive|Alport syndrome recessive type|nephropathy and deafness gard_rare|ordo_etiological_subtype MONDO:0008761 obsolete alpha-2-deficient collagen disease biolink:Disease mondo GARD:0003454|GARD:0000616|MESH:C565963|UMLS:C1859850|OMIM:203760 MESH:C565963|UMLS:C1859850|http://identifiers.org/omim/203760 http://purl.obolibrary.org/obo/MONDO_0008761 alpha-2-deficient collagen disease|Meigel disease MONDO:0006100 obsolete Bartholin gland carcinoma (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006100 MONDO:0008760 beta-ketothiolase deficiency biolink:Disease mondo MESH:C535434|DOID:14723|ICD10:E71.1|GARD:0000872|NCIT:C98841|Orphanet:134|OMIM:203750 Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence. DOID:14723|MESH:C535434|NCIT:C98841|ORPHA:134|http://identifiers.org/omim/203750 http://purl.obolibrary.org/obo/MONDO_0008760 2-methyl-3-hydroxybutyricacidemia|alpha-methylacetoaceticaciduria|mitochondrial acetoacetyl-CoA thiolase deficiency|Alpha methylacetoacetic aciduria|T2 deficiency|Beta ketothiolase deficiency|3-oxothiolase deficiency|mitochondrial acetoacetyl-coenzyme A thiolase deficiency|3-ketothiolase deficiency|Alpha-methyl-acetoacetyl-CoA thiolase deficiency|2-Methyl-3-hydroxybutyric acidemia|mitochondrial acetoacetyl-Coa thiolase deficiency|beta-ketothiolase deficiency|peroxisomal thiolase deficiency|BKT|Mat deficiency|3-Ktd deficiency|ALPHA-methylacetoacetic aciduria ordo_disease CHEBI:29101 sodium(1+) biolink:ChemicalSubstance mondo A monoatomic monocation obtained from sodium. http://purl.obolibrary.org/obo/CHEBI_29101 sodium(1+) ion|Na+|sodium(I) cation|sodium(1+)|Na(+)|SODIUM ION|sodium cation UBERON:0005386 olfactory segment of nasal mucosa biolink:AnatomicalEntity mondo That portion of the nasal mucosa containing the sensory endings for olfaction; the organ of smell[MESH]. http://purl.obolibrary.org/obo/UBERON_0005386 pars olfactoria tunicae mucosae nasi|olfactory part of nasal mucosa|pars olfactoria tunicae mucosae nasi|olfactory mucosa|olfactory area of nasal mucosa|olfactory zone of nasal mucosa HGNC:1152 BVES biolink:OntologyClass mondo http://identifiers.org/hgnc/1152 UBERON:0005384 nasal cavity epithelium biolink:AnatomicalEntity mondo An epithelium that lines the nasal cavity. http://purl.obolibrary.org/obo/UBERON_0005384 nasal epithelium|nasal mucosa UBERON:0005381 dentate gyrus granule cell layer biolink:AnatomicalEntity mondo Granule cell layer is also called the DG principal cell layer. This one of the three layers of dentate gyrus that lies deep to the molecular layer and is made of densely packed layer that is four to eight granule cells thick. http://purl.obolibrary.org/obo/UBERON_0005381 granular layer of the dentate gyrus|DG granule cell layer|stratum granulare gyri dentati|dentate gyrus, granule cell layer|granular layer of dentate gyrus CHEBI:78113 fatty acid anion 3:0 biolink:ChemicalSubstance mondo Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_78113 fatty acid 3:0 FOODON:03414374 bovine biolink:OntologyClass mondo The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns. http://purl.obolibrary.org/obo/FOODON_03414374 HP:0001097 Keratoconjunctivitis sicca biolink:PhenotypicFeature mondo UMLS:C0043349|MSH:D007638|MSH:D014985|UMLS:C0013238|UMLS:C2930821|UMLS:C0022575|SNOMEDCT_US:363677007|MSH:D015352|MSH:C531719|SNOMEDCT_US:46152009|SNOMEDCT_US:302896008 Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. http://purl.obolibrary.org/obo/HP_0001097 Dry eyes|Keratitis sicca|Dry eye syndrome|Xerophthalmia hposlim_core HP:0001098 Abnormal fundus morphology biolink:PhenotypicFeature mondo UMLS:C4025804 Any structural abnormality of the fundus of the eye. http://purl.obolibrary.org/obo/HP_0001098 Abnormality of the fundus UBERON:0005389 transparent eye structure biolink:AnatomicalEntity mondo A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. http://purl.obolibrary.org/obo/UBERON_0005389 lens UBERON:0005388 photoreceptor array biolink:AnatomicalEntity mondo An array of photoreceptors and any supporting cells found in an eye. http://purl.obolibrary.org/obo/UBERON_0005388 light-sensitive tissue MONDO:0021718 polyneuritis biolink:Disease mondo GTR:AN1353837|HP:0031003|SCTID:76886005|NCIT:C26864|GTR:AN1355640|UMLS:C0032541 Inflammation of several peripheral nerves. SNOMEDCT:76886005|NCIT:C26864|UMLS:C0032541 http://purl.obolibrary.org/obo/MONDO_0021718 polyneuritis|Polyneuritides|Multiple neuritis|Inflammatory polyneuropathy|Polyneuritis|inflammatory polyneuropathy HP:0001096 Keratoconjunctivitis biolink:PhenotypicFeature mondo SNOMEDCT_US:88151007|MSH:D007637|UMLS:C0022573 Inflammation of the cornea and conjunctiva. http://purl.obolibrary.org/obo/HP_0001096 hposlim_core MONDO:0008739 agenesis of cerebral white matter biolink:Disease mondo OMIM:202600 http://identifiers.org/omim/202600 http://purl.obolibrary.org/obo/MONDO_0008739 agenesis of cerebral white matter MONDO:0008738 aganglionosis, total intestinal biolink:Disease mondo OMIM:202550|NCIT:C101074 A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. http://identifiers.org/omim/202550|NCIT:C101074 http://purl.obolibrary.org/obo/MONDO_0008738 aganglionosis, total intestinal|total intestinal aganglionosis|total intestinal aganglionosis n_of_one MONDO:0008737 congenital afibrinogenemia biolink:Disease mondo ICD10:D68.2|NCIT:C98130|GARD:0005761|DOID:2236|SCTID:154818001|Orphanet:98880|MESH:D000347|OMIM:202400 Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen. MESH:D000347|http://identifiers.org/omim/202400|ORPHA:98880|NCIT:C98130|DOID:2236|SNOMEDCT:154818001 http://purl.obolibrary.org/obo/MONDO_0008737 afibrinogenemia, congenital|hypofibrinogenemia, congenital|factor I deficiency|fibrinogen deficiency|afibrinogenemia congenital|familial afibrinogenemia|afibrinogenemia ordo_clinical_subtype MONDO:0008736 peroxisome biogenesis disorder 2B biolink:Disease mondo OMIM:202370|UMLS:C3550234 UMLS:C3550234|http://identifiers.org/omim/202370 http://purl.obolibrary.org/obo/MONDO_0008736 peroxisome biogenesis disorder 2B|peroxisome biogenesis disorder type 2B|PBD2B|peroxisome biogenesis disorder 2B; PBD2B MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect biolink:Disease mondo OMIM:202355|MESH:C565971|UMLS:C1859971 UMLS:C1859971|http://identifiers.org/omim/202355|MESH:C565971 http://purl.obolibrary.org/obo/MONDO_0008735 familial glucocorticoid deficiency due to defect distal to ACTH receptor|adrenocortical unresponsiveness to ACTH with postreceptor defect MONDO:0008734 adrenocortical carcinoma, hereditary biolink:Disease mondo OMIM:202300|UMLS:C1859972 An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome. UMLS:C1859972|http://identifiers.org/omim/202300 http://purl.obolibrary.org/obo/MONDO_0008734 adrenocortical carcinoma, hereditary; ADCC|hereditary adrenal cortex carcinoma|ADCC|adrenocortical carcinoma, hereditary|adrenocortical carcinoma, pediatric MONDO:0008733 familial glucocorticoid deficiency biolink:Disease mondo MESH:C565974|Orphanet:361|SCTID:765326001|GARD:0002498|OMIMPS:202200|UMLS:CN204661|ICD10:E27.1 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. SNOMEDCT:765326001|ORPHA:361|MESH:C565974|UMLS:CN204661 http://purl.obolibrary.org/obo/MONDO_0008733 glucocorticoid deficiency|GCCD gard_rare|ordo_disease MONDO:0008732 adrenal hypoplasia, cytomegalic type biolink:Disease mondo OMIM:202155|UMLS:C1859977 UMLS:C1859977|http://identifiers.org/omim/202155 http://purl.obolibrary.org/obo/MONDO_0008732 adrenal hypoplasia, cytomegalic type MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone biolink:Disease mondo MESH:C565976|Orphanet:95700|OMIM:202150|ICD10:E27.1|UMLS:C1859978 UMLS:C1859978|http://identifiers.org/omim/202150|MESH:C565976|ORPHA:95700 http://purl.obolibrary.org/obo/MONDO_0008731 familial adrenal hypoplasia, miniature type|familial adrenal hypoplasia with absent pituitary LH|adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone ordo_disease MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency biolink:Disease mondo OMIM:202110|Orphanet:90793|ICD10:E25.0|SCTID:124220008|ICD9:277.6|GARD:0001469 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. http://identifiers.org/omim/202110|ORPHA:90793|SNOMEDCT:124220008 http://purl.obolibrary.org/obo/MONDO_0008730 adrenal hyperplasia 5|17,20-lyase deficiency, isolated|17-Alpha-Hydroxylase deficiency|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete|CAH due to 17-alpha-hydroxylase deficiency|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial|congenital adrenal hyperplasia type 5|combined 17-hydroxylase/17,20-lyase deficiency|adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency ordo_disease UBERON:0005375 spinal cord ventral column biolink:AnatomicalEntity mondo the area of white matter of the spinal cord located on either side of the ventral (anterior) medial fissure http://purl.obolibrary.org/obo/UBERON_0005375 spinal cord anterior column|ventral column|anterior column HGNC:1160 TWNK biolink:OntologyClass mondo http://identifiers.org/hgnc/1160 HGNC:1161 CEP55 biolink:OntologyClass mondo http://identifiers.org/hgnc/1161 MONDO:0021702 alcohol amnestic disorder biolink:Disease mondo EFO:1001759|MESH:D000425|SCTID:73097000 A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139) SNOMEDCT:73097000|MESH:D000425 http://purl.obolibrary.org/obo/MONDO_0021702 syndromes, alcoholic Korsakoff|psychoses, alcohol-induced amnestic|Korsakoff syndromes, alcoholic|amnestic psychosis, alcohol-induced|alcohol amnestic syndromes|alcohol-induced Dysmnesic psychoses|alcohol amnestic syndrome|alcohol-induced amnestic syndrome|Dysmnesic syndromes, alcohol-induced|alcohol induced Dysmnesic syndrome|alcohol-induced Korsakoff syndromes|syndrome, alcohol-induced Dysmnesic|Dysmnesic syndrome, alcohol-induced|amnestic psychosis, alcohol induced|syndromes, alcohol-induced Dysmnesic|alcohol-induced amnestic psychoses|amnestic psychoses, alcohol-induced|psychosis, alcohol-induced amnestic|alcohol-induced Dysmnesic psychosis|alcohol-induced Dysmnesic syndrome|alcohol induced amnestic syndrome|alcohol induced amnestic psychosis|alcohol-induced amnestic psychosis|amnestic syndromes, alcohol|alcohol induced Dysmnesic psychosis|alcoholic Korsakoff syndromes|amnestic disorders, alcohol|Dysmnesic psychosis, alcohol-induced|alcoholic Korsakoff syndrome|amnestic syndromes, alcohol-induced|syndrome, alcohol-induced Korsakoff|amnestic disorder, alcohol|Korsakoff syndrome, alcohol-induced|syndromes, alcohol-induced amnestic|Korsakoff syndromes, alcohol-induced|alcohol induced Korsakoff syndrome|syndromes, alcohol-induced Korsakoff|psychosis, alcohol-induced Dysmnesic|amnestic syndrome, alcohol|alcohol-induced Dysmnesic syndromes|syndrome, alcohol-induced amnestic|syndromes, alcohol amnestic|amnestic syndrome, alcohol-induced|alcohol induced persisting amnestic disorder|syndrome, alcohol amnestic|Dysmnesic psychoses, alcohol-induced|alcohol-induced Korsakoff syndrome|alcohol-induced amnestic syndromes|psychoses, alcohol-induced Dysmnesic|alcohol amnestic disorders|Korsakoff syndrome, alcoholic|alcohol-induced persisting amnestic disorder|syndrome, alcoholic Korsakoff HP:0025031 Abnormality of the digestive system biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0025031 HP:0025032 Abnormality of digestive system physiology biolink:PhenotypicFeature mondo A functional anomaly of the digestive system. http://purl.obolibrary.org/obo/HP_0025032 FOODON:03414381 bovid biolink:OntologyClass mondo A bovid (family *Bovidae*) is any of almost 140 species of cloven-hoofed, ruminant mammal which has males with characteristic unbranching horns covered in a permanent sheath of keratin. The family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle. http://purl.obolibrary.org/obo/FOODON_03414381 HP:0025033 Abnormality of digestive system morphology biolink:PhenotypicFeature mondo A structural anomaly of the digestive system. http://purl.obolibrary.org/obo/HP_0025033 MONDO:0008749 pseudohypoparathyroidism type 2 biolink:Disease mondo UMLS:C2932717|UMLS:CN206737|ICD10:E20.1|Orphanet:94090|OMIM:203330|GARD:0010682|SCTID:42183005|MESH:C548077|ICD9:275.49 Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. SNOMEDCT:42183005|http://identifiers.org/omim/203330|UMLS:C0271870|MESH:C548077|UMLS:CN206737|ORPHA:94090|UMLS:C2932717 http://purl.obolibrary.org/obo/MONDO_0008749 Php 2|pseudohypoparathyroidism, type II|PHP II|PHP2|pseudohypoparathyroidism, type II; PHP2 gard_rare|ordo_disease MONDO:0008748 Hermansky-Pudlak syndrome 1 biolink:Disease mondo MESH:C538539|OMIM:203300|NCIT:C150367|UMLS:C2931875|DOID:0060539 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene. MESH:C538539|NCIT:C150367|http://identifiers.org/omim/203300|DOID:0060539|UMLS:C2931875 http://purl.obolibrary.org/obo/MONDO_0008748 Hermansky-Pudlak syndrome caused by mutation in HPS1|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells|Hermansky-Pudlak syndrome type 1|Hermansky-Pudlak syndrome 1|HPS1|Delta storage pool disease|Hermansky-Pudlak syndrome 1; HPS1|HPS1 Hermansky-Pudlak syndrome MONDO:0008747 oculocutaneous albinism type 3 biolink:Disease mondo MESH:C537731|ICD9:270.2|Orphanet:79433|SCTID:63450009|DOID:0070097|ICD10:E70.3|GARD:0004039|OMIM:203290|GARD:0009641 Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population. http://identifiers.org/omim/203290|MESH:C537189|SNOMEDCT:63450009|MESH:C537731|ORPHA:79433|UMLS:C0342683|UMLS:C2931599|DOID:0070097 http://purl.obolibrary.org/obo/MONDO_0008747 OCA3|rufous oculocutaneous albinism|albinism, oculocutaneous, type III; OCA3|Xanthism|albinism, oculocutaneous, type III|TYRP1 oculocutaneous albinism|albinism, oculocutaneous, type 3|ROCA|oculocutaneous albinism type III|albinism 3|xanthous oculocutaneous albinism|oculocutaneous albinism caused by mutation in TYRP1|rufous OCA|Red oculocutaneous albinism|oculocutaneous albinism, type 3 gard_rare|ordo_disease MONDO:0008746 oculocutaneous albinism type 2 biolink:Disease mondo UMLS:C0268495|Orphanet:79432|OMIM:203200|MESH:C537730|GARD:0004038|ICD10:E70.3|DOID:0070096 Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. http://identifiers.org/omim/203200|MESH:C537730|ORPHA:79432|DOID:0070096|UMLS:C0268495 http://purl.obolibrary.org/obo/MONDO_0008746 Brown oculocutaneous albinism|albinism 2|albinism, Brown oculocutaneous|Albinoidism|oculocutaneous albinism, type 2|OCA2|oculocutaneous albinism tyrosinase positive|albinism, oculocutaneous, type 2|tyrosinase-positive oculocutaneous albinism|oculocutaneous albinism type II|oculocutaneous albinism, tyrosinase-positive|albinism, oculocutaneous, type II; OCA2|albinism, oculocutaneous, type II gard_rare|ordo_disease MONDO:0008745 oculocutaneous albinism type 1A biolink:Disease mondo Orphanet:79431|ICD9:270.2|SCTID:6483008|OMIM:203100|ICD10:E70.3|DOID:0070094 Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. http://identifiers.org/omim/203100|SNOMEDCT:6483008|ORPHA:79431|DOID:0070094 http://purl.obolibrary.org/obo/MONDO_0008745 TYR oculocutaneous albinism|oculocutaneous albinism, tyrosinase-negative|albinism 1|Tyr oculocutaneous albinism|oculocutaneous albinism type IA|albinism, oculocutaneous, type IA|tyrosinase-negative oculocutaneous albinism|albinism, oculocutaneous, type 1A|oculocutaneous albinism, type 1|oculocutaneous albinism caused by mutation in TYR|oculocutaneous albinism caused by mutation in Tyr|OCA1A|albinism, oculocutaneous, type IA; OCA1A ordo_clinical_subtype MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome biolink:Disease mondo OMIM:203000|MESH:C535967|GARD:0000588|Orphanet:2007|ICD10:Q75.8|UMLS:C1859964 Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. UMLS:C1859964|http://identifiers.org/omim/203000|MESH:C535967|ORPHA:2007 http://purl.obolibrary.org/obo/MONDO_0008744 frontonasal dysplasia with alar clefts|alar-nasal cartilages, coloboma of, with telecanthus|coloboma of alar-nasal cartilages with telecanthus ordo_malformation_syndrome MONDO:0008743 Stimmler syndrome biolink:Disease mondo Orphanet:3199|UMLS:C1859965|SCTID:733072002|OMIM:202900|MESH:C565968|GARD:0005026 Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. http://identifiers.org/omim/202900|MESH:C565968|SNOMEDCT:733072002|ORPHA:3199|UMLS:C1859965 http://purl.obolibrary.org/obo/MONDO_0008743 ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus|Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus|Stimmler syndrome ordo_malformation_syndrome NCBITaxon:41165 Schizopyrenida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41165 MONDO:0008742 autosomal dominant severe congenital neutropenia biolink:Disease mondo UMLS:C1859966|Orphanet:486|GARD:0009558|ICD10:D70 Autosomal dominant form of severe congenital neutropenia. ORPHA:486|UMLS:C1859966 http://purl.obolibrary.org/obo/MONDO_0008742 severe congenital neutropenia autosomal dominant|severe congenital neutropenia, autosomal dominant ordo_disease|gard_rare MONDO:0008741 PAGOD syndrome biolink:Disease mondo GARD:0003086|OMIM:202660|MESH:C537018|SCTID:722132007|UMLS:C1859967|ICD10:Q87.8|Orphanet:991 PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. http://identifiers.org/omim/202660|ORPHA:991|SNOMEDCT:722132007|UMLS:C1859967|MESH:C537018 http://purl.obolibrary.org/obo/MONDO_0008741 Kennerknecht sorgo Oberhoffer syndrome|pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia|pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome|agonadism with multiple internal malformations|PAGOD syndrome ordo_malformation_syndrome MONDO:0008740 agnathia-otocephaly complex biolink:Disease mondo OMIM:202650|SCTID:48180002|DOID:0060341|ICD10:Q18.2|ICD9:759.89|GARD:0009126|NCIT:C124568|Orphanet:990|UMLS:CN207252|ICD10:Q87.8 Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. http://identifiers.org/omim/202650|UMLS:CN207252|ORPHA:990|DOID:0060341|SNOMEDCT:48180002|NCIT:C124568 http://purl.obolibrary.org/obo/MONDO_0008740 otocephaly|agnathia-holoprosencephaly|holoprosencephaly-agnathia|AGOTC|agnathia-holoprosencephaly-situs inversus syndrome|agnathia-otocephaly complex|agnathia-otocephaly complex; AGOTC|dysgnathia complex agnathia-holoprosencephaly|Dysgnathia Complex agnathia-holoprosencephaly ordo_malformation_syndrome UBERON:0005363 inferior vagus X ganglion biolink:AnatomicalEntity mondo the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) http://purl.obolibrary.org/obo/UBERON_0005363 inferior ganglion of vagus|ganglion nodosum|vagus X inferior ganglion|ganglion inferius nervus vagi|inferior ganglion of vagus nerve|nodose ganglia|vagus nerve nodose ganglion|ganglion inferius nervi vagi|vagus nerve inferior ganglion|inferior vagus X|tenth cranial nerve nodose ganglion|ganglion inferius (nervus vagus)|inferior vagus ganglion|nodose ganglion HGNC:1171 ELP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1171 UBERON:0005362 vagus X ganglion biolink:AnatomicalEntity mondo the group of sensory neuron cell bodies associated with the vagus nerve http://purl.obolibrary.org/obo/UBERON_0005362 right glossopharyngeal ganglion|vagus X|ganglion of vagus nerve|vagus neural ganglion|vagal ganglion|gX|vagus ganglion HP:0001072 Thickened skin biolink:PhenotypicFeature mondo MEDDRA:10040936|UMLS:C0334008|SNOMEDCT_US:69943009|SNOMEDCT_US:17417006|UMLS:C4020878 Laminar thickening of skin. http://purl.obolibrary.org/obo/HP_0001072 Thickened skin|Diffusely thickened skin|Pachydermia|Thick skin hposlim_core UBERON:0005366 olfactory lobe biolink:AnatomicalEntity mondo The lobe at the anterior part of each cerebral hemisphere, responsible for olfactory functions. http://purl.obolibrary.org/obo/UBERON_0005366 GO:0031503 protein-containing complex localization biolink:OntologyClass mondo A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0031503 protein complex localization|establishment and maintenance of protein complex localization|protein complex localisation GO:0006547 histidine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. http://purl.obolibrary.org/obo/GO_0006547 histidine metabolism GO:0006544 glycine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycine, aminoethanoic acid. http://purl.obolibrary.org/obo/GO_0006544 glycine metabolism GO:0006541 glutamine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid. http://purl.obolibrary.org/obo/GO_0006541 glutamine metabolism HP:0003621 Juvenile onset biolink:PhenotypicFeature mondo UMLS:C4025588 Onset of signs or symptoms of disease between the age of 5 and 15 years. http://purl.obolibrary.org/obo/HP_0003621 Signs and symptoms begin before 15 years of age HP:0003623 Neonatal onset biolink:PhenotypicFeature mondo UMLS:C1855106 Onset of signs or symptoms of disease within the first 28 days of life. http://purl.obolibrary.org/obo/HP_0003623 Onset in first weeks of life|Onset in neonatal period|Neonatal onset PATO:0001291 electromagnetic (EM) radiation quality biolink:OntologyClass mondo A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation. http://purl.obolibrary.org/obo/PATO_0001291 GO:0006558 L-phenylalanine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. http://purl.obolibrary.org/obo/GO_0006558 phenylalanine metabolic process|phenylalanine metabolism|L-phenylalanine metabolism GO:0006555 methionine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. http://purl.obolibrary.org/obo/GO_0006555 methionine and threonine metabolism|methionine metabolism|methionine and threonine metabolic process BSPO:0001101 in_deep_part_of biolink:OntologyClass mondo X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the deep portion. http://purl.obolibrary.org/obo/BSPO_0001101 BSPO:0001106 proximalmost_part_of biolink:OntologyClass mondo X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y http://purl.obolibrary.org/obo/BSPO_0001106 GO:0006520 cellular amino acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid and derivative metabolic process|amino acid and derivative metabolism|cellular amino acid metabolism|amino acid metabolic process GO:0006521 regulation of cellular amino acid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids. http://purl.obolibrary.org/obo/GO_0006521 regulation of amino acid metabolism BSPO:0001107 immediately_deep_to biolink:OntologyClass mondo This relation holds when both the deep_to and ajdacent_to relationship similarly hold. http://purl.obolibrary.org/obo/BSPO_0001107 BSPO:0001108 distalmost_part_of biolink:OntologyClass mondo X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y http://purl.obolibrary.org/obo/BSPO_0001108 UBERON:0007914 bone of craniocervical region biolink:AnatomicalEntity mondo A bone that is part of a craniocervical region. http://purl.obolibrary.org/obo/UBERON_0007914 head or neck bone|cranial bone HGNC:3700 FH biolink:OntologyClass mondo http://identifiers.org/hgnc/3700 BSPO:0001113 preaxialmost_part_of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BSPO_0001113 HGNC:3706 ATP8B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3706 HGNC:3705 FIBP biolink:OntologyClass mondo http://identifiers.org/hgnc/3705 HGNC:3702 FHL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3702 BSPO:0001115 postaxialmost_part_of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BSPO_0001115 GO:0006506 GPI anchor biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. http://purl.obolibrary.org/obo/GO_0006506 GPI anchor formation|glycosylphosphatidylinositol biosynthetic process|glycosylphosphatidylinositol biosynthesis|GPI anchor anabolism|GPI/GSI anchor biosynthetic process|GPI/GSI anchor biosynthesis|GPI anchor synthesis|GPI anchor biosynthesis MONDO:0043083 coronal synostosis, syndactyly and jejunal atresia biolink:Disease mondo GARD:0001532|MESH:C536445|UMLS:C2931194 MESH:C536445|UMLS:C2931194 http://purl.obolibrary.org/obo/MONDO_0043083 asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia gard_rare GO:0006505 GPI anchor metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. http://purl.obolibrary.org/obo/GO_0006505 GPI anchor metabolism|glycosylphosphatidylinositol metabolic process|GPI/GSI anchor metabolic process|glycosylphosphatidylinositol metabolism|GPI/GSI anchor metabolism MONDO:0043085 chromosome 1, uniparental disomy 1q12 q21 biolink:Disease mondo UMLS:CN035970|GARD:0001878|MESH:C538085 UMLS:CN035970|MESH:C538085 http://purl.obolibrary.org/obo/MONDO_0043085 uniparental disomy 1q12 q21|Mosaic trisomy 1q12 q21 gard_rare UBERON:0005309 pronephric nephron biolink:AnatomicalEntity mondo A pronephric nephron is the functional unit of the pronephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005309 MONDO:0043087 thickened earlobes with conductive deafness from incus-stapes abnormalities biolink:Disease mondo UMLS:C2931222|MESH:C536511|GARD:0002034 MESH:C536511|UMLS:C2931222 http://purl.obolibrary.org/obo/MONDO_0043087 Schweitzer Kemink Graham syndrome|conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia|thickened earlobes with conductive deafness from incus-stapes abnormalities gard_rare MONDO:0043089 acute posterior multifocal placoid pigment epitheliopathy biolink:Disease mondo UMLS:C0154884|SCTID:89188001|GARD:0002183 Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications. UMLS:C0154884|SNOMEDCT:89188001 http://purl.obolibrary.org/obo/MONDO_0043089 apmppe|multifocal placoid pigment epitheliopathy|pigment epitheliopathy, disseminated retinitis and retinochoroiditis|epitheliopathy, acute posterior multifocal placoid pigment|acute placoid pigment epitheliopathy|AMPPE|APMPPE|acute multifocal placoid pigment epitheliopathy|amppe - acute multifocal placoid pigment epitheliopathy|acute posterior multifocal placoid pigment epitheliopathy gard_rare UBERON:0005310 pronephric nephron tubule biolink:AnatomicalEntity mondo The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. http://purl.obolibrary.org/obo/UBERON_0005310 ciliated neck segment|pronephric tubule HP:0001000 Abnormality of skin pigmentation biolink:PhenotypicFeature mondo UMLS:C1260926 An abnormality of the pigmentation of the skin. http://purl.obolibrary.org/obo/HP_0001000 Abnormal skin color|Abnormality of pigmentation|Pigmentary skin changes|Abnormal pigmentation|Pigmentary changes|Abnormal skin pigmentation|Abnormality of skin pigmentation|Pigmentation anomaly hposlim_core HP:0001004 Lymphedema biolink:PhenotypicFeature mondo SNOMEDCT_US:30213001|SNOMEDCT_US:234097001|MSH:D008209|UMLS:C0240278|UMLS:C0024236|UMLS:C1835229 Localized fluid retention and tissue swelling caused by a compromised lymphatic system. http://purl.obolibrary.org/obo/HP_0001004 Onset of lymphedema around puberty|Lymphatic obstruction|Swelling caused by excess lymph fluid under skin|Lymphoedema HP:0001005 Dermatological manifestations of systemic disorders biolink:PhenotypicFeature mondo UMLS:C4025812 http://purl.obolibrary.org/obo/HP_0001005 secondary_consequence UBERON:0005317 pulmonary artery endothelium biolink:AnatomicalEntity mondo An pulmonary artery endothelium is an epithelium that lines the pulmonary artery[GO]. http://purl.obolibrary.org/obo/UBERON_0005317 pulmonary artery endothelial tube HGNC:3721 FKBP5 biolink:OntologyClass mondo http://identifiers.org/hgnc/3721 UBERON:0005316 endocardial endothelium biolink:AnatomicalEntity mondo The endothelial lining of the endocardium. http://purl.obolibrary.org/obo/UBERON_0005316 endothelium of endocardium|endocardium endothelium GO:0006508 proteolysis biolink:OntologyClass mondo The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. http://purl.obolibrary.org/obo/GO_0006508 peptidolysis|ATP-dependent proteolysis CHEBI:4551 digoxin biolink:ChemicalSubstance mondo A cardenolide glycoside that is digitoxin beta-hydroxylated at C-12. A cardiac glycoside extracted from the foxglove plant, Digitalis lanata, it is used to control ventricular rate in atrial fibrillation and in the management of congestive heart failure with atrial fibrillation, but the margin between toxic and therapeutic doses is small. http://purl.obolibrary.org/obo/CHEBI_4551 digoxin|(3beta,5beta,12beta)-3-{[2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl]oxy}-12,14-dihydroxycard-20(22)-enolide|12beta-hydroxydigitoxin UBERON:0005311 mammary placode biolink:AnatomicalEntity mondo The mammary placode is a transient lens shaped structure that will give rise to the mammary bud proper[GO]. http://purl.obolibrary.org/obo/UBERON_0005311 mammary anlage GO:0006517 protein deglycosylation biolink:OntologyClass mondo The removal of sugar residues from a glycosylated protein. http://purl.obolibrary.org/obo/GO_0006517 glycoprotein deglycosylation MONDO:0043094 ichthyosis, follicular biolink:Disease mondo SCTID:238627002|GARD:0002355 SNOMEDCT:238627002 http://purl.obolibrary.org/obo/MONDO_0043094 follicular ichthyosis gard_rare GO:0006518 peptide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. http://purl.obolibrary.org/obo/GO_0006518 peptide metabolism MONDO:0043096 holoacardius amorphus biolink:Disease mondo GARD:0002720|Orphanet:2161|SCTID:41049003 SNOMEDCT:41049003|ORPHA:2161 http://purl.obolibrary.org/obo/MONDO_0043096 fetus anideus|Holoacardius amorphus|amorphus globosus|amorphous globosus gard_rare NCBITaxon:2704647 Metakinetoplastina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2704647 MONDO:0043099 Hordnes Engebretsen Knudtson syndrome biolink:Disease mondo MESH:C536067|UMLS:C2931100|GARD:0002736 UMLS:C2931100|MESH:C536067 http://purl.obolibrary.org/obo/MONDO_0043099 acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation|acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability gard_rare HP:0003674 Onset biolink:PhenotypicFeature mondo UMLS:C0206132|MSH:D017668 The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/HP_0003674 Age symptoms begin|Age of onset CHEBI:29195 cyanate biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_29195 [C(N)O](-)|OCN(-)|cyanate ion|Cyanat|cyanate|Zyanat|nitridooxidocarbonate(1-) HP:0003679 Pace of progression biolink:PhenotypicFeature mondo UMLS:C4025580 http://purl.obolibrary.org/obo/HP_0003679 HP:0003677 Slow progression biolink:PhenotypicFeature mondo UMLS:C1854494 http://purl.obolibrary.org/obo/HP_0003677 Signs and symptoms worsen slowly with time|Slowly progressive|Slow disease progression|Slowly progressive disorder UBERON:0005305 thyroid follicle biolink:AnatomicalEntity mondo Discrete, cystlike units of the thyroid gland that are lined with cuboidal epithelium and are filled with a colloid substance, about 30 to each lobule[BTO]. http://purl.obolibrary.org/obo/UBERON_0005305 thyroid follicles|thyroid gland follicle HP:0001010 Hypopigmentation of the skin biolink:PhenotypicFeature mondo SNOMEDCT_US:18655006|SNOMEDCT_US:89031001|MSH:D017496|UMLS:C0162835|SNOMEDCT_US:201284005|SNOMEDCT_US:23006000 A reduction of skin color related to a decrease in melanin production and deposition. http://purl.obolibrary.org/obo/HP_0001010 Hypopigmentation|Skin hypopigmentation|Patchy lightened skin|Hypopigmented skin HGNC:3748 FLG biolink:OntologyClass mondo http://identifiers.org/hgnc/3748 HGNC:3756 FLNC biolink:OntologyClass mondo http://identifiers.org/hgnc/3756 HGNC:3755 FLNB biolink:OntologyClass mondo http://identifiers.org/hgnc/3755 HGNC:3754 FLNA biolink:OntologyClass mondo http://identifiers.org/hgnc/3754 GO:0016070 RNA metabolic process biolink:OntologyClass mondo The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. http://purl.obolibrary.org/obo/GO_0016070 RNA metabolism GO:0065003 protein-containing complex assembly biolink:OntologyClass mondo The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. http://purl.obolibrary.org/obo/GO_0065003 macromolecular complex assembly|chaperone activity|protein complex formation|macromolecule complex assembly|protein complex assembly GO:0065008 regulation of biological quality biolink:OntologyClass mondo Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. http://purl.obolibrary.org/obo/GO_0065008 regulation of biological attribute|regulation of biological characteristic GO:0065009 regulation of molecular function biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/GO_0065009 regulation of a molecular function GO:0004092 carnitine O-acetyltransferase activity biolink:OntologyClass mondo Catalysis of the reaction: acetyl-CoA + carnitine = (R)-O-acetylcarnitine + CoA. http://purl.obolibrary.org/obo/GO_0004092 carnitine acetyl coenzyme A transferase activity|carnitine acetyltransferase activity|acetylcarnitine transferase activity|carnitine O-acetyltransferase I activity|acetyl-CoA-carnitine O-acetyltransferase activity|CATC|acetyl-CoA:carnitine O-acetyltransferase activity|carnitine O-acetyltransferase II activity|carnitine-acetyl-CoA transferase activity|carnitine acetylase activity GO:0065007 biological regulation biolink:OntologyClass mondo Any process that modulates a measurable attribute of any biological process, quality or function. http://purl.obolibrary.org/obo/GO_0065007 regulation GO:0016068 type I hypersensitivity biolink:OntologyClass mondo An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines. http://purl.obolibrary.org/obo/GO_0016068 immediate hypersensitivity response GO:0016064 immunoglobulin mediated immune response biolink:OntologyClass mondo An immune response mediated by immunoglobulins, whether cell-bound or in solution. http://purl.obolibrary.org/obo/GO_0016064 antibody-mediated immune response GO:0016050 vesicle organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. http://purl.obolibrary.org/obo/GO_0016050 vesicle organisation|vesicle organization and biogenesis PATO:0001236 process quality biolink:OntologyClass mondo A quality which inheres in an process. http://purl.obolibrary.org/obo/PATO_0001236 quality of a process|quality of process|relational quality of occurrent|quality of occurrent GO:0016042 lipid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0016042 lipolysis|lipid degradation|lipid catabolism|multicellular organism lipid catabolic process|lipid breakdown|multicellular organismal lipid catabolic process GO:0016043 cellular component organization biolink:OntologyClass mondo A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/GO_0016043 cell organization and biogenesis|cellular component organisation in other organism|cellular component organisation at cellular level|cellular component organization in other organism|cell organisation|cellular component organization at cellular level MONDO:0021582 lentigo biolink:Disease mondo NCIT:C3159|SCTID:402624000 A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy. SNOMEDCT:402624000|NCIT:C3159 http://purl.obolibrary.org/obo/MONDO_0021582 lentiginosis|lentigo MONDO:0021583 melanocytic skin neoplasm biolink:Disease mondo NCIT:C7161|UMLS:C0349501 A melanocytic neoplasm that involves the zone of skin. NCIT:C7161|UMLS:C0349501 http://purl.obolibrary.org/obo/MONDO_0021583 melanocytic skin neoplasm|melanocytic neoplasm of zone of skin|melanocytic neoplasm of skin|zone of skin melanocytic neoplasm|cutaneous melanocytic neoplasm NCBITaxon:1402491 Pseudomonas aeruginosa CF5 organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1402491 MONDO:0021588 eyelid sebaceous gland carcinoma biolink:Disease mondo NCIT:C134831|UMLS:C4525405 A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases. NCIT:C134831|UMLS:C4525405 http://purl.obolibrary.org/obo/MONDO_0021588 eyelid SGC|eyelid sebaceous gland carcinoma|carcinoma of sebaceous gland of eyelid|sebaceous gland carcinoma of the eyelid|sebaceous gland of eyelid carcinoma MONDO:0021580 neoplasm of jaw biolink:Disease mondo SCTID:126634001|ICD9:239.89 A neoplasm (disease) that involves the jaw skeleton. SNOMEDCT:126634001 http://purl.obolibrary.org/obo/MONDO_0021580 tumor of jaw skeleton|jaw skeleton neoplasm (disease)|neoplasm of jaw skeleton|jaw skeleton tumor|jaw skeleton neoplasm MONDO:0021581 connective tissue neoplasm biolink:Disease mondo SCTID:126598008|MESH:D009372|UMLS:C0027656|ICD9:239.2 Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. SNOMEDCT:126598008|UMLS:C0027656|MESH:D009372 http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue tumor|connective tissue neoplasm|connective tissue neoplasms|tumor of connective tissue|tumour of connective tissue|neoplasm of connective tissues|neoplasm, connective tissue|neoplasm of connective tissue|connective tissue neoplasm (disease) PATO:0001241 physical object quality biolink:OntologyClass mondo A quality which inheres in a continuant. http://purl.obolibrary.org/obo/PATO_0001241 multiply inhering quality of a physical entity|monadic quality of an object|quality of continuant|quality of a continuant|monadic quality of continuant|quality of a single physical entity|quality of an object|monadic quality of a continuant MONDO:0021579 neoplasm of femur biolink:Disease mondo ICD9:239.2|SCTID:126583006 A neoplasm (disease) that involves the femur. SNOMEDCT:126583006 http://purl.obolibrary.org/obo/MONDO_0021579 neoplasm of femur|femur tumor|femur neoplasm|tumor of femur|femur neoplasm (disease) GO:0016051 carbohydrate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/GO_0016051 carbohydrate formation|anabolic carbohydrate metabolic process|anabolic carbohydrate metabolism|carbohydrate anabolism|carbohydrate biosynthesis|carbohydrate synthesis GO:0031670 cellular response to nutrient biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. http://purl.obolibrary.org/obo/GO_0031670 GO:0016052 carbohydrate catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/GO_0016052 single-organism carbohydrate catabolic process|carbohydrate breakdown|carbohydrate catabolism|multicellular organismal carbohydrate catabolic process|carbohydrate degradation|catabolic carbohydrate metabolic process|catabolic carbohydrate metabolism GO:0016053 organic acid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0016053 organic acid formation|organic acid anabolism|organic acid biosynthesis|organic acid synthesis GO:0016054 organic acid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0016054 organic acid breakdown|organic acid catabolism|organic acid degradation GO:0031669 cellular response to nutrient levels biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. http://purl.obolibrary.org/obo/GO_0031669 GO:0031667 response to nutrient levels biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. http://purl.obolibrary.org/obo/GO_0031667 GO:0031668 cellular response to extracellular stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. http://purl.obolibrary.org/obo/GO_0031668 MONDO:0033559 intellectual developmental disorder with seizures and language delay biolink:Disease mondo OMIM:619000 http://identifiers.org/omim/619000 http://purl.obolibrary.org/obo/MONDO_0033559 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia biolink:Disease mondo OMIM:618999 http://identifiers.org/omim/618999 http://purl.obolibrary.org/obo/MONDO_0033558 Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia|AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE HP:0003826 Stillbirth biolink:PhenotypicFeature mondo SNOMEDCT_US:237364002|MSH:D005313|UMLS:C0595939|SNOMEDCT_US:276507005|MSH:D050497|UMLS:C0015927 Death of the fetus in utero after at least 20 weeks of gestation. http://purl.obolibrary.org/obo/HP_0003826 Stillbirth|Stillborn|Fetal death GO:0004046 aminoacylase activity biolink:OntologyClass mondo Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid. http://purl.obolibrary.org/obo/GO_0004046 L-aminoacylase activity|amido acid deacylase activity|histozyme activity|hippurase activity|dehydropeptidase II activity|N-acyl-L-amino-acid amidohydrolase activity|L-amino-acid acylase activity|acylase I activity|short acyl amidoacylase activity|long acyl amidoacylase activity|benzamidase activity|aminoacylase I activity|alpha-N-acylaminoacid hydrolase activity MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 biolink:Disease mondo OMIM:619003 http://identifiers.org/omim/619003 http://purl.obolibrary.org/obo/MONDO_0033560 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 MONDO:0033566 combined oxidative phosphorylation deficiency 48 biolink:Disease mondo OMIM:619012 http://identifiers.org/omim/619012 http://purl.obolibrary.org/obo/MONDO_0033566 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48 MONDO:0033565 oocyte maturation defect 9 biolink:Disease mondo OMIM:619011 http://identifiers.org/omim/619011 http://purl.obolibrary.org/obo/MONDO_0033565 OOCYTE MATURATION DEFECT 9; OOMD9 MONDO:0033564 oocyte maturation defect 8 biolink:Disease mondo OMIM:619009 http://identifiers.org/omim/619009 http://purl.obolibrary.org/obo/MONDO_0033564 OOCYTE MATURATION DEFECT 8; OOMD8 MONDO:0033563 retinitis pigmentosa 90 biolink:Disease mondo OMIM:619007 http://identifiers.org/omim/619007 http://purl.obolibrary.org/obo/MONDO_0033563 RETINITIS PIGMENTOSA 90; RP90 MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia biolink:Disease mondo OMIM:619005 http://identifiers.org/omim/619005 http://purl.obolibrary.org/obo/MONDO_0033562 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH GO:0016020 membrane biolink:OntologyClass mondo A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. http://purl.obolibrary.org/obo/GO_0016020 membrane region|region of membrane|whole membrane GO:0016021 integral component of membrane biolink:OntologyClass mondo The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/GO_0016021 integral to membrane|transmembrane MONDO:0033561 deeah syndrome biolink:Disease mondo OMIM:619004 http://identifiers.org/omim/619004 http://purl.obolibrary.org/obo/MONDO_0033561 Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities|DEEAH SYNDROME; DEEAH MONDO:0033569 combined oxidative phosphorylation deficiency 49 biolink:Disease mondo OMIM:619024 http://identifiers.org/omim/619024 http://purl.obolibrary.org/obo/MONDO_0033569 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 MONDO:0033571 obsolete skeletal muscle glycogen content and metabolism quantitative trait locus biolink:Disease mondo OMIM:619030 http://identifiers.org/omim/619030 http://purl.obolibrary.org/obo/MONDO_0033571 SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS; SMGMQTL MONDO:0033570 combined oxidative phosphorylation deficiency 50 biolink:Disease mondo OMIM:619025 http://identifiers.org/omim/619025 http://purl.obolibrary.org/obo/MONDO_0033570 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 RO:0001025 located_in biolink:OntologyClass mondo a relation between two independent continuants, the target and the location, in which the target is entirely within the location http://purl.obolibrary.org/obo/RO_0001025 MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies biolink:Disease mondo OMIM:619031 http://identifiers.org/omim/619031 http://purl.obolibrary.org/obo/MONDO_0033572 INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF GO:0004029 aldehyde dehydrogenase (NAD+) activity biolink:OntologyClass mondo Catalysis of the reaction: an aldehyde + NAD+ + H2O = an acid + NADH + H+. http://purl.obolibrary.org/obo/GO_0004029 NAD-linked aldehyde dehydrogenase activity|NAD-aldehyde dehydrogenase activity|NAD-dependent aldehyde dehydrogenase activity|aldehyde:NAD+ oxidoreductase activity|m-methylbenzaldehyde dehydrogenase activity|CoA-independent aldehyde dehydrogenase activity|propionaldehyde dehydrogenase activity|NAD-dependent 4-hydroxynonenal dehydrogenase activity|aldehyde dehydrogenase (NAD+) GO:0031645 negative regulation of nervous system process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process. http://purl.obolibrary.org/obo/GO_0031645 negative regulation of neurophysiological process|negative regulation of neurological system process|downregulation of neurological process|down regulation of neurological process|inhibition of neurological process|down-regulation of neurological process|negative regulation of neurological process GO:0031646 positive regulation of nervous system process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a neurophysiological process. http://purl.obolibrary.org/obo/GO_0031646 positive regulation of neurological process|positive regulation of neurological system process|up regulation of neurological process|stimulation of neurological process|up-regulation of neurological process|activation of neurological process|positive regulation of neurophysiological process|upregulation of neurological process GO:0031643 positive regulation of myelination biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. http://purl.obolibrary.org/obo/GO_0031643 up regulation of myelination|activation of myelination|stimulation of myelination|upregulation of myelination|up-regulation of myelination GO:0031644 regulation of nervous system process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system. http://purl.obolibrary.org/obo/GO_0031644 regulation of neurological process|regulation of neurological system process|regulation of neurophysiological process HP:0003808 Abnormal muscle tone biolink:PhenotypicFeature mondo UMLS:C0852413 http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone RO:0001018 contained in biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0001018 RO:0001019 contains biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0001019 RO:0001015 location_of biolink:OntologyClass mondo a relation between two independent continuants, the location and the target, in which the target is entirely within the location http://purl.obolibrary.org/obo/RO_0001015 GO:0031641 regulation of myelination biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. http://purl.obolibrary.org/obo/GO_0031641 GO:0031642 negative regulation of myelination biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. http://purl.obolibrary.org/obo/GO_0031642 down-regulation of myelination|down regulation of myelination|inhibition of myelination|downregulation of myelination GO:0006699 bile acid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. http://purl.obolibrary.org/obo/GO_0006699 bile acid anabolism|bile acid synthesis|bile acid biosynthesis|bile acid formation GO:0006694 steroid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. http://purl.obolibrary.org/obo/GO_0006694 steroidogenesis|steroid anabolism|steroid biosynthesis|steroid synthesis|steroid formation GO:0006695 cholesterol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/GO_0006695 cholesterol anabolism|cholesterol synthesis|cholesterol formation|cholesterol biosynthesis GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity biolink:OntologyClass mondo Catalysis of the reaction: an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+. http://purl.obolibrary.org/obo/GO_0004030 aldehyde:NAD(P)+ oxidoreductase activity|ALDH GO:0016011 dystroglycan complex biolink:OntologyClass mondo A protein complex that includes alpha- and beta-dystroglycan, which are alternative products of the same gene; the laminin-binding component of the dystrophin-associated glycoprotein complex, providing a link between the subsarcolemmal cytoskeleton (in muscle cells) and the extracellular matrix. Alpha-dystroglycan is an extracellular protein binding to alpha-laminin and to beta-dystroglycan; beta-dystroglycan is a transmembrane protein which binds alpha-dystroglycan and dystrophin. http://purl.obolibrary.org/obo/GO_0016011 GO:0016012 sarcoglycan complex biolink:OntologyClass mondo A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex. http://purl.obolibrary.org/obo/GO_0016012 sarcoglycan-sarcospan complex GO:0016010 dystrophin-associated glycoprotein complex biolink:OntologyClass mondo A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase. http://purl.obolibrary.org/obo/GO_0016010 dystrophin glycoprotein complex|DGC MONDO:0021530 benign neoplasm of subglottis biolink:Disease mondo SCTID:92412003|UMLS:C0345749|NCIT:C4427 A benign neoplasm that involves the subglottis. SNOMEDCT:92412003|NCIT:C4427|UMLS:C0345749 http://purl.obolibrary.org/obo/MONDO_0021530 benign subglottis neoplasm|benign subglottic neoplasm|subglottis benign neoplasm|benign tumor of subglottis|benign tumor of the subglottis|benign neoplasm of the subglottis|benign subglottic tumor|benign subglottis tumor MONDO:0021531 fibroma of lung biolink:Disease mondo SCTID:707387004|NCIT:C5658|UMLS:C1334444 A fibroma that involves the lung. SNOMEDCT:707387004|NCIT:C5658|UMLS:C1334444 http://purl.obolibrary.org/obo/MONDO_0021531 fibroma of the lung|lung fibroma|pulmonary fibroma MONDO:0021532 fibroma of prostate biolink:Disease mondo ICD9:600.20|UMLS:C0268885|SCTID:47014000|NCIT:C3972 A fibroma that involves the prostate gland. SNOMEDCT:47014000|NCIT:C3972|UMLS:C0268885 http://purl.obolibrary.org/obo/MONDO_0021532 prostate fibroma|prostate gland fibroma|fibroma of the prostate MONDO:0008559 thrombophilia due to thrombin defect biolink:Disease mondo GARD:0010815|SCTID:111293003|COHD:444247|ICD9:453.9|OMIM:188050 The formation of a blood clot (thrombus) in the lumen of a vein. SNOMEDCT:111293003|http://identifiers.org/omim/188050 http://purl.obolibrary.org/obo/MONDO_0008559 thrombophilia due to thrombin defect; THPH1|hyperprothrombinemia|prothrombin 20210G>A thrombophilia|factor II-related thrombophilia|THPH1|Venous thromboembolism|prothrombin G20210A thrombophilia|thrombophilia due to Factor 2 defect|prothrombin thrombophilia|venous thrombosis|prothrombin-related thrombophilia|thrombosis, protection against|thrombophilia due to thrombin defect MONDO:0021533 intestinal neuroendocrine tumor G1 biolink:Disease mondo NCIT:C4637|SCTID:276816003 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. NCIT:C4637|SNOMEDCT:276816003 http://purl.obolibrary.org/obo/MONDO_0021533 carcinoid tumor of the intestine|intestinal carcinoid tumor|carcinoid tumor of intestine|intestine carcinoid tumor|intestine neuroendocrine neoplasm G1|intestinal NET G1|intestine carcinoid tumor|intestine NET G1|grade 1 neuroendocrine neoplasm of intestine|intestine carcinoid tumor (disease)|intestinal neuroendocrine tumor G1|intestine neuroendocrine tumor, well differentiated, low grade MONDO:0008558 autoimmune thrombocytopenic purpura biolink:Disease mondo DOID:8924|OMIM:188030|Orphanet:3002|MedDRA:10021245|ICD10:D69.3|EFO:0007160|COHD:4120621|ICD9:287.31|GARD:0005194|NCIT:C3446 An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. ORPHA:3002|MESH:D016553|NCIT:C3446|DOID:8924|UMLS:C0398650|MEDDRA:10021245|http://identifiers.org/omim/188030 http://purl.obolibrary.org/obo/MONDO_0008558 thrombocytopenic purpura, autoimmune|AITP|idiopathic thrombocytopenic purpura|idiopathic purpura|werlhof's disease|immune thrombocytopenia|primary thrombocytopenic purpura|autoimmune thrombocytopenic purpura|Ideopath thrombocytopenic pur|thrombocytopenic purpura, autoimmune; AITP|ITP|immune thrombocytopenic purpura|idiopathic thrombocytopenia purpura|idiopathic thrombocytopenia|thrombocytopenic purpura autoimmune ordo_disease MONDO:0021534 rectal neuroendocrine tumor G1 biolink:Disease mondo SCTID:713306000|UMLS:C1335678|NCIT:C5547 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. NCIT:C5547|UMLS:C1335678|SNOMEDCT:713306000 http://purl.obolibrary.org/obo/MONDO_0021534 carcinoid of rectum|carcinoid tumor of rectum|carcinoid of the rectum|rectum carcinoid tumor|rectum neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of the rectum|rectal neuroendocrine tumor G1|rectal carcinoid|rectum carcinoid tumor (disease)|rectal carcinoid tumor|rectum neuroendocrine neoplasm G1|grade 1 neuroendocrine neoplasm of rectum|rectum carcinoid tumor|rectum NET G1|rectal NET G1 MONDO:0008557 Paris-Trousseau thrombocytopenia biolink:Disease mondo OMIM:188025|UMLS:C1956093|ICD10:D69.4|UMLS:C1861178|Orphanet:851|GARD:0004224 Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. UMLS:C1861178|MESH:C538617|ORPHA:851|http://identifiers.org/omim/188025|UMLS:C1956093 http://purl.obolibrary.org/obo/MONDO_0008557 Paris-Trousseau syndrome|chromosome 11q23 deletion syndrome|thrombocytopenia, Paris-TROUSSEAU type|TCPT|thrombocytopenia, Paris-TROUSSEAU type; TCPT|thrombocytopenia Paris-Trousseau type ordo_disease|gard_rare RO:0001000 derives from biolink:OntologyClass mondo a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/RO_0001000 MONDO:0008556 thrombocytopenia, cyclic biolink:Disease mondo ICD9:287.39|GARD:0009862|UMLS:C0272282|SCTID:48788004|MESH:C536899|OMIM:188020 UMLS:C0272282|SNOMEDCT:48788004|MESH:C536899|http://identifiers.org/omim/188020 http://purl.obolibrary.org/obo/MONDO_0008556 thrombocytopenia cyclic|thrombocytopenia, cyclic|cyclic thrombocytopenia gard_rare MONDO:0008555 thrombocytopenia 2 biolink:Disease mondo MESH:C536519|OMIM:188000|GARD:0005191|NCIT:C129035 An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability. NCIT:C129035|MESH:C536519|http://identifiers.org/omim/188000 http://purl.obolibrary.org/obo/MONDO_0008555 thrombocytopenia 2; THC2|thrombocytopenia, autosomal dominant, 2|thrombocytopenia autosomal dominant 2|thrombocytopenia type 2|thrombocytopenia 2|THC2 gard_rare RO:0001001 derives into biolink:OntologyClass mondo a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/RO_0001001 MONDO:0008554 thrombocythemia 1 biolink:Disease mondo UMLS:C3277671|OMIM:187950 http://identifiers.org/omim/187950|UMLS:C3277671 http://purl.obolibrary.org/obo/MONDO_0008554 thrombocytosis 1|THCYT1|thrombocythemia 1|thrombocythemia 1; THCYT1|thrombocythemia type 1 MONDO:0008553 platelet-type bleeding disorder 17 biolink:Disease mondo MESH:C566060|NCIT:C142084|ICD10:D69.1|OMIM:187900|DOID:0111049 An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function. http://identifiers.org/omim/187900|MESH:C566060|DOID:0111049|NCIT:C142084 http://purl.obolibrary.org/obo/MONDO_0008553 bleeding disorder, platelet-type, 17|bleeding disorder, platelet-type, 17; BDPLT17|hereditary thrombasthenia-thrombocytopenia|thrombasthenia-thrombocytopenia, hereditary|inherited bleeding disorder, platelet-type caused by mutation in GFI1B|GFI1B inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type 17|BDPLT17 MONDO:0008552 platelet-type bleeding disorder 16 biolink:Disease mondo MESH:C566061|ICD10:D69.4|OMIM:187800|DOID:0060691|UMLS:C1861195 An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. http://identifiers.org/omim/187800|UMLS:C1861195|MESH:C566061|DOID:0060691 http://purl.obolibrary.org/obo/MONDO_0008552 bleeding disorder, platelet-type, 16|Glanzmann thrombasthenia, autosomal dominant|bleeding disorder, platelet-type, 16; BDPLT16|autosomal dominant Glanzmann thrombasthenia|autosomal dominant thrombasthenia of Glanzmann and Naegeli|thrombasthenia of Glanzmann and Naegeli, autosomal dominant|BDPLT16 MONDO:0008551 thoracolaryngopelvic dysplasia biolink:Disease mondo OMIM:187760|ICD10:Q77.2|UMLS:C1861197|GARD:0005184|Orphanet:3317|MESH:C536517|SCTID:723556008|OMIM:187770 Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. ORPHA:3317|UMLS:C1861197|MESH:C536517|SNOMEDCT:723556008|http://identifiers.org/omim/187770|http://identifiers.org/omim/187760 http://purl.obolibrary.org/obo/MONDO_0008551 TLPD|THORACOLARYNGOPELVIC dysplasia; TLPD|THORACOPELVIC dysostosis|thoracolaryngopelvic dysplasia|Barnes syndrome|autosomal dominant thoracolaryngopelvic dysplasia ordo_malformation_syndrome MONDO:0008550 obsolete thoracolaryngopelvic dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008550 HGNC:1062 BLVRA biolink:OntologyClass mondo http://identifiers.org/hgnc/1062 MONDO:0021524 benign neoplasm of buccal mucosa biolink:Disease mondo UMLS:C0345566|SCTID:92039003|NCIT:C4406|ICD9:210.4 A benign neoplasm that involves the buccal mucosa. UMLS:C0345566|SNOMEDCT:92039003|NCIT:C4406 http://purl.obolibrary.org/obo/MONDO_0021524 benign buccal mucosa neoplasm|benign neoplasm of the buccal mucosa|benign tumor of the buccal mucosa|benign buccal mucosa tumor|buccal mucosa benign neoplasm|benign tumor of buccal mucosa MONDO:0021525 benign neoplasm of corpus uteri biolink:Disease mondo ICD9:219.1|NCIT:C3608|UMLS:C0153998|SCTID:92021007 A benign neoplasm that involves the body of uterus. NCIT:C3608|UMLS:C0153998|SNOMEDCT:92021007 http://purl.obolibrary.org/obo/MONDO_0021525 benign corpus uteri neoplasm|benign tumor of body of uterus|benign tumor of corpus uteri|benign tumor of the body of uterus|benign tumor of the corpus uteri|benign tumor of uterine corpus|benign neoplasm of body of uterus|benign tumor of the uterine corpus|benign neoplasm of the corpus uteri|benign corpus uteri tumor|benign neoplasm of the body of uterus|benign neoplasm of uterine corpus|benign uterine corpus tumor|benign neoplasm of the uterine corpus|benign uterine body neoplasm|body of uterus benign neoplasm|benign tumor of uterine body|benign tumor of the uterine body|benign neoplasm of uterine body|benign neoplasm of the uterine body|benign uterine body tumor|benign uterine corpus neoplasm HGNC:1069 BMP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1069 MONDO:0021527 benign neoplasm of meninges biolink:Disease mondo UMLS:C0348426|SCTID:109913001|ICD10:D32|NCIT:C4957 A benign neoplasm that involves the meningeal cluster. NCIT:C4957|SNOMEDCT:109913001|UMLS:C0348426 http://purl.obolibrary.org/obo/MONDO_0021527 benign neoplasm of the meninges|benign meninges tumor|benign neoplasms of meninges|benign neoplasms of the meninges|benign meninges neoplasm|meningeal cluster benign neoplasm|benign meningeal neoplasm|benign meningeal tumors|meningeal tumors, benign|benign meningeal tumor|benign tumor of meninges|benign tumor of the meninges|benign meningeal neoplasms CHEBI:91007 aromatic carboxylate biolink:ChemicalSubstance mondo A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_91007 an aromatic carboxylate MONDO:0021528 benign neoplasm of male breast biolink:Disease mondo NCIT:C4620|UMLS:C0347482|SCTID:92206006 A non-metastasizing neoplasm that arises from the breast parenchyma in males. NCIT:C4620|SNOMEDCT:92206006|UMLS:C0347482 http://purl.obolibrary.org/obo/MONDO_0021528 male breast benign neoplasm|benign neoplasm of the Male breast|benign Male breast tumor|benign tumor of the Male breast|benign tumor of Male breast|benign Male breast neoplasm HGNC:1067 BMP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1067 MONDO:0021529 benign neoplasm of chest wall biolink:Disease mondo NCIT:C8529|ICD9:229.8|SCTID:92058007|UMLS:C0684831 A benign neoplasm that involves the chest wall. NCIT:C8529|SNOMEDCT:92058007|UMLS:C0684831 http://purl.obolibrary.org/obo/MONDO_0021529 chest wall benign neoplasm|benign tumor of chest wall|benign tumor of the chest wall|benign neoplasm of the chest wall|benign chest wall tumor|benign chest wall neoplasm HGNC:1068 BMP15 biolink:OntologyClass mondo http://identifiers.org/hgnc/1068 HGNC:18475 ZDHHC9 biolink:OntologyClass mondo http://identifiers.org/hgnc/18475 HGNC:18483 LIPH biolink:OntologyClass mondo http://identifiers.org/hgnc/18483 CL:0019019 tracheobronchial smooth muscle cell biolink:Cell mondo A smooth muscle cell that is part of the tracheobronchial tree. http://purl.obolibrary.org/obo/CL_0019019 smooth muscle cell of tracheobronchial tree HGNC:18481 ATP6V0A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18481 CL:0019017 lymphatic vessel smooth muscle cell biolink:Cell mondo A smooth muscle cell that is part of any lymphatic vessel. http://purl.obolibrary.org/obo/CL_0019017 smooth muscle cell of lymphatic vessel MONDO:0021520 benign neoplasm of floor of mouth biolink:Disease mondo ICD10:D10.2|NCIT:C3593|ICD9:210.3|SCTID:92109005|UMLS:C0153934 A benign neoplasm that involves the mouth floor. SNOMEDCT:92109005|UMLS:C0153934|NCIT:C3593 http://purl.obolibrary.org/obo/MONDO_0021520 benign tumor of floor of mouth|benign tumor of the floor of the mouth|benign neoplasm of the floor of the mouth|benign floor of the mouth tumor|benign floor of mouth tumor|mouth floor benign neoplasm|benign floor of mouth neoplasm|benign floor of the mouth neoplasm MONDO:0021521 benign neoplasm of mediastinum biolink:Disease mondo ICD9:212.5|UMLS:C0153956|NCIT:C3604|SCTID:92214000|ICD10:D15.2 A benign neoplasm that involves the mediastinum. SNOMEDCT:92214000|NCIT:C3604|UMLS:C0153956 http://purl.obolibrary.org/obo/MONDO_0021521 benign mediastinal neoplasms NOS|benign mediastinal neoplasm|benign mediastinal tumor|benign neoplasm of the mediastinum|benign tumor of the mediastinum|mediastinum benign neoplasm|benign tumor of mediastinum MONDO:0021522 benign neoplasm of lower jaw bone biolink:Disease mondo UMLS:C0004994|ICD9:213.1|SCTID:92208007|NCIT:C34417|ICD10:D16.5 A benign neoplasm that involves the bone of lower jaw. NCIT:C34417|SNOMEDCT:92208007|UMLS:C0004994 http://purl.obolibrary.org/obo/MONDO_0021522 bone of lower jaw benign neoplasm MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant biolink:Disease mondo MESH:C567934|UMLS:C2937288|OMIM:188570 UMLS:C2937288|MESH:C567934|http://identifiers.org/omim/188570 http://purl.obolibrary.org/obo/MONDO_0008569 hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones|GRTH|thyroid hormone resistance, generalized, autosomal dominant; GRTH|Gthr|thyroid hormone unresponsiveness|thyroid hormone resistance, generalized, autosomal dominant MONDO:0021523 benign neoplasm of pharynx biolink:Disease mondo NCIT:C3597|ICD9:210.9|UMLS:C0153940|SCTID:92293007 A benign neoplasm that involves the pharynx. SNOMEDCT:92293007|NCIT:C3597|UMLS:C0153940 http://purl.obolibrary.org/obo/MONDO_0021523 benign pharynx neoplasm|pharynx benign neoplasm|pharyngeal neoplasm benign|benign pharyngeal neoplasm|benign pharyngeal tumor|benign neoplasm of the pharynx|benign pharynx tumor|benign tumor of the pharynx|benign tumor of pharynx MONDO:0008568 thyroid hormone plasma membrane transport defect biolink:Disease mondo GARD:0008499|UMLS:C1861101|MESH:C536916|OMIM:188560 UMLS:C1861101|MESH:C536916|http://identifiers.org/omim/188560 http://purl.obolibrary.org/obo/MONDO_0008568 defect|thyroid hormone plasma membrane transport defect|hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport|thyroid hormone resistance due to T4 plasma Membrane Transport defect gard_rare MONDO:0008567 thyroid cancer, nonmedullary, 1 biolink:Disease mondo OMIM:188550 http://identifiers.org/omim/188550 http://purl.obolibrary.org/obo/MONDO_0008567 thyroid cancer, nonmedullary, type 1|nonmedullary thyroid carcinoma, papillary|thyroid cancer, nonmedullary, 1; NMTC1|familial nonmedullary thyroid cancer, papillary|papillary carcinoma of thyroid|NMTC1|thyroid cancer, nonmedullary, 1 MONDO:0008566 thyroid cancer, nonmedullary, 2 biolink:Disease mondo GARD:0005206|OMIM:188470|MESH:C572845 MESH:C572845|http://identifiers.org/omim/188470 http://purl.obolibrary.org/obo/MONDO_0008566 thyroid cancer, nonmedullary, 2; NMTC2|thyroid carcinoma, follicular|FTC|thyroid cancer, nonmedullary, 2|thyroid cancer, follicular|thyroid cancer, nonmedullary, type 2|NMTC2 MONDO:0008565 familial thyroglossal duct cyst biolink:Disease mondo ICD10:Q89.2|GARD:0005204|SCTID:717331000|MESH:C536909|UMLS:C3495590|OMIM:188455|Orphanet:93953 Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. ORPHA:93953|UMLS:C3495590|MESH:C536909|http://identifiers.org/omim/188455|SNOMEDCT:717331000 http://purl.obolibrary.org/obo/MONDO_0008565 thyroglossal duct cysts|hereditary thyroglossal duct cyst|thyroglossal duct cysts familial|hereditary thyroglossal duct cysts|thyroglossal duct cyst, familial gard_rare|ordo_morphological_anomaly MONDO:0008564 DiGeorge syndrome biolink:Disease mondo DOID:11198|ICD10:D82.1|UMLS:CN734570|MESH:D004062|OMIM:188400|ICD9:279.11|SCTID:77128003|GTR:AN1145678|NCIT:C2989 A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. NCIT:C2989|http://identifiers.org/omim/188400|DOID:11198|UMLS:CN734570|MESH:D004062|SNOMEDCT:77128003 http://purl.obolibrary.org/obo/MONDO_0008564 DiGeorge syndrome; DGS|velo-cardio-facial syndrome|pharyngeal pouch syndrome|chromosome 22Q11.2 deletion syndrome|DGS|VCF|DiGeorge syndrome type 1|Takao VCF syndrome|DiGeorge syndrome|third and fourth pharyngeal pouch syndrome|Catch22|Sphrintzen|DGS1|hypoplasia of thymus and parathyroids|22q deletion syndrome(s)|DiGeorge syndrome chromosome region|22q11.2 Deletion syndrome|velocardiofacial syndrome|DiGeorge anomaly|DiGeorge sequence|Di-George syndrome|DiGeorge's syndrome|Shprintzen syndrome MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome biolink:Disease mondo Orphanet:1078|OMIM:188201|GARD:0004375|GARD:0005200|ICD10:Q87.2 Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case. ORPHA:1078|MESH:C537511|http://identifiers.org/omim/188201|UMLS:C2931515 http://purl.obolibrary.org/obo/MONDO_0008563 Thumb ankylosis with mental retardation|thumb stiff brachydactyly mental retardation|Piussan-Lenaerts-Mathieu syndrome|thumbs, STIFF, with brachydactyly type A1 and developmental delay|thumb stiff brachydactyly intellectual disability|Thumb ankylosis with intellectual disability gard_rare|ordo_malformation_syndrome MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome biolink:Disease mondo UMLS:C2931366|Orphanet:2251|OMIM:188150|MESH:C566054|GARD:0005199 Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. ORPHA:2251|MESH:C566054|MESH:C536904|http://identifiers.org/omim/188150|UMLS:C2931366 http://purl.obolibrary.org/obo/MONDO_0008562 congenital deformity of the thumb and congenital alopecia|thumb deformity, alopecia, pigmentation anomaly|sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation|hypotrichosis associated with congenital hypoplasia of the thumb|thumb deformity and alopecia ordo_malformation_syndrome MONDO:0008561 thumb deformity (disease) biolink:Disease mondo MESH:C536903|HP:0001172|OMIM:188100|GARD:0008482 MESH:C536903|http://identifiers.org/omim/188100 http://purl.obolibrary.org/obo/MONDO_0008561 thumb absent or hypoplastic|thumb deformity|thumb hypoplastic MONDO:0008560 thrombophilia due to activated protein C resistance biolink:Disease mondo OMIM:188055|SCTID:421527008|UMLS:C1861171|ICD9:289.81|MESH:D020016 A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance. UMLS:C1861171|http://identifiers.org/omim/188055|SNOMEDCT:421527008|MESH:D020016 http://purl.obolibrary.org/obo/MONDO_0008560 APC resistance|thrombophilia due to deficiency of Activated Protein C cofactor|thrombophilia due to ACTIVATED PROTEIN C resistance; THPH2|THPH2|thrombophilia due to activated protein C resistance|thrombophilia due to Factor 5 Leiden|Proc cofactor deficiency|Pccf deficiency|Activated Protein C resistance|thrombophilia 5|resistance, APC NCBITaxon:222543 Hypocreomycetidae organism taxon mondo PMID:17572334|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_222543 NCBITaxon:222544 Sordariomycetidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_222544 HGNC:1071 BMP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1071 NCBITaxon:222545 Xylariomycetidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_222545 GO:0043624 cellular protein complex disassembly biolink:OntologyClass mondo The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups. http://purl.obolibrary.org/obo/GO_0043624 MONDO:0021513 benign neoplasm of tonsil biolink:Disease mondo ICD10:D10.4|SCTID:92263001|NCIT:C3594|ICD9:210.5|UMLS:C0153936 A benign neoplasm that involves the tonsil. UMLS:C0153936|NCIT:C3594|SNOMEDCT:92263001 http://purl.obolibrary.org/obo/MONDO_0021513 benign tonsil neoplasm|benign tonsillar neoplasm|tonsillar neoplasm, benign|benign tumor of tonsil|benign tumor of the tonsil|benign tonsillar tumor|tonsil benign neoplasm|benign neoplasm of the tonsil|benign tonsil tumor MONDO:0021514 benign neoplasm of pericardium biolink:Disease mondo NCIT:C8536|UMLS:C0685118|SCTID:92289001 A benign neoplasm that involves the pericardium. SNOMEDCT:92289001|UMLS:C0685118|NCIT:C8536 http://purl.obolibrary.org/obo/MONDO_0021514 benign pericardial tumor|benign neoplasm of the pericardium|benign pericardial neoplasm|benign tumor of the pericardium|benign tumor of pericardium|pericardium benign neoplasm MONDO:0033534 combined oxidative phosphorylation deficiency 46 biolink:Disease mondo OMIM:618952 http://identifiers.org/omim/618952 http://purl.obolibrary.org/obo/MONDO_0033534 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46 MONDO:0033533 combined oxidative phosphorylation deficiency 45 biolink:Disease mondo OMIM:618951 http://identifiers.org/omim/618951 http://purl.obolibrary.org/obo/MONDO_0033533 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 MONDO:0021515 benign neoplasm of ethmoidal sinus biolink:Disease mondo ICD9:212.0|SCTID:92093000|UMLS:C0345670|NCIT:C4417 A benign neoplasm that involves the ethmoid sinus. UMLS:C0345670|SNOMEDCT:92093000|NCIT:C4417 http://purl.obolibrary.org/obo/MONDO_0021515 benign neoplasm of the ethmoid sinus|benign neoplasm of ethmoid sinus|benign ethmoid sinus tumor|benign tumor of the ethmoid sinus|benign tumor of ethmoid sinus|ethmoid sinus benign neoplasm|benign neoplasm of the ethmoidal sinus|benign tumor of the ethmoidal sinus|benign ethmoidal sinus neoplasm|benign ethmoidal sinus tumor|benign tumor of ethmoidal sinus|benign ethmoid sinus neoplasm MONDO:0033532 Suleiman-El-Hattab syndrome biolink:Disease mondo OMIM:618950 http://identifiers.org/omim/618950 http://purl.obolibrary.org/obo/MONDO_0033532 SULEIMAN-EL-HATTAB SYNDROME; SULEHS MONDO:0021516 benign neoplasm of glottis biolink:Disease mondo SCTID:92123007|UMLS:C0347234|NCIT:C4605 A benign neoplasm that involves the glottis. NCIT:C4605|SNOMEDCT:92123007|UMLS:C0347234 http://purl.obolibrary.org/obo/MONDO_0021516 benign glottis neoplasm|benign neoplasm of the glottis|benign glottis tumor|benign tumor of the glottis|glottis benign neoplasm|benign tumor of glottis MONDO:0021517 benign neoplasm of trachea biolink:Disease mondo NCIT:C3602|ICD10:D14.2|ICD9:212.2|UMLS:C0153953|SCTID:92446002 A benign neoplasm that involves the trachea. SNOMEDCT:92446002|UMLS:C0153953|NCIT:C3602 http://purl.obolibrary.org/obo/MONDO_0021517 benign tracheal neoplasm|benign tracheal tumor|benign trachea neoplasm|benign neoplasm of the trachea|benign trachea tumor|benign tumor of the trachea|benign tumor of trachea|trachea benign neoplasm HGNC:1078 BMPR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1078 MONDO:0021518 benign neoplasm of hard palate biolink:Disease mondo ICD9:210.4|NCIT:C4403|UMLS:C0345552|SCTID:92129006 A benign neoplasm that involves the hard palate. NCIT:C4403|SNOMEDCT:92129006|UMLS:C0345552 http://purl.obolibrary.org/obo/MONDO_0021518 benign neoplasm of the hard palate|benign hard palate tumor|benign tumor of the hard palate|benign tumor of hard palate|hard palate benign neoplasm|benign hard palate neoplasm HGNC:1076 BMPR1A biolink:OntologyClass mondo http://identifiers.org/hgnc/1076 HGNC:1077 BMPR1B biolink:OntologyClass mondo http://identifiers.org/hgnc/1077 HGNC:18451 MCFD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18451 MONDO:0008539 obsolete distal arthrogryposis type 10 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008539 MONDO:0008538 temporal arteritis biolink:Disease mondo NCIT:C35065|GARD:0009615|ICD9:446.5|EFO:1001209|UMLS:C1956391|OMIM:187360|SCTID:400130008|MedDRA:10018250|DOID:13375|Orphanet:397|MedDRA:10043207|ICD10:M31.6 Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. DOID:13375|SNOMEDCT:400130008|UMLS:C1956391|http://identifiers.org/omim/187360|MEDDRA:10043207|NCIT:C35065|UMLS:C0039483|MEDDRA:10018250|ORPHA:397|MESH:D013700 http://purl.obolibrary.org/obo/MONDO_0008538 Horton's temporal arteritis|GCA|polymyalgia rheumatica|Horton’s syndrome|temporal arteritis|Horton's giant cell arteritis|Horton disease|Horton’s disease|temporal artery inflammation|cranial arteritis|Horton's arteritis|arteritis cranialis|arteritis temporalis|Horton's disease|giant cell arteritis|inflammation of temporal artery ordo_disease MONDO:0021510 benign neoplasm of prostate biolink:Disease mondo UMLS:C0154009|ICD9:222.2|SCTID:92308005|NCIT:C3613|ICD10:D29.1 A benign neoplasm that involves the prostate gland. NCIT:C3613|SNOMEDCT:92308005|UMLS:C0154009 http://purl.obolibrary.org/obo/MONDO_0021510 benign tumor of prostate|benign tumor of the prostate|benign prostate tumor|benign neoplasm of the prostate|prostate gland benign neoplasm|benign prostate neoplasm|benign prostatic neoplasm MONDO:0021511 benign neoplasm of adrenal gland biolink:Disease mondo ICD9:227.0|NCIT:C3629|UMLS:C0154040|SCTID:91967007 A benign neoplasm that involves the adrenal gland. NCIT:C3629|SNOMEDCT:91967007|UMLS:C0154040 http://purl.obolibrary.org/obo/MONDO_0021511 benign adrenal neoplasm|benign adrenal gland neoplasm|adrenal gland benign neoplasm|benign neoplasm of the adrenal gland|benign adrenal gland tumor|benign tumor of the adrenal gland|benign tumor of adrenal gland|benign adrenal tumor MONDO:0033537 combined oxidative phosphorylation deficiency 47 biolink:Disease mondo OMIM:618958 http://identifiers.org/omim/618958 http://purl.obolibrary.org/obo/MONDO_0033537 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 MONDO:0008537 telecanthus biolink:Disease mondo Orphanet:98575|ICD10:Q10.3|MESH:C562941|OMIM:187350 http://identifiers.org/omim/187350|MESH:C562941|UMLS:C0423113|ORPHA:98575 http://purl.obolibrary.org/obo/MONDO_0008537 telecanthus ordo_group_of_disorders MONDO:0021512 benign neoplasm of thymus biolink:Disease mondo ICD10:D15.0|ICD9:212.6|SCTID:92437008|UMLS:C0345975|NCIT:C4458 A benign neoplasm that involves the thymus. UMLS:C0345975|SNOMEDCT:92437008|NCIT:C4458 http://purl.obolibrary.org/obo/MONDO_0021512 benign neoplasm of the Thymus|benign Thymus tumor|benign thymic tumor|benign thymic neoplasm|benign Thymus neoplasm|thymus benign neoplasm|benign tumor of Thymus|benign tumor of the Thymus MONDO:0008536 temperature-sensitive lethal mutation biolink:Disease mondo OMIM:187340 http://identifiers.org/omim/187340 http://purl.obolibrary.org/obo/MONDO_0008536 temperature-sensitive lethal mutation MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 biolink:Disease mondo UMLS:CN034812|GTR:AN0097750|OMIM:187300|GTR:AN0195329|GTR:AN0097748|GTR:AN0097757 http://identifiers.org/omim/187300|UMLS:CN034812 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER; HHT|telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber|Osler-Rendu-Weber disease|ORW disease|ENG-related Hereditary hemorrhagic telangiectasia|Osler Weber Rendu syndrome type 1|HHT|telangiectasia, hereditary hemorrhagic, type 1; HHT1|hereditary hemorrhagic telangiectasia type 1|telangiectasia, hereditary hemorrhagic, type 1|HHT1 CL:0019001 tracheobronchial serous cell biolink:Cell mondo Any serous secreting cell that is part of the tracheobronchial epithelium. http://purl.obolibrary.org/obo/CL_0019001 serous cell of tracheobronchial tree MONDO:0008534 generalized essential telangiectasia biolink:Disease mondo SCTID:238763007|Orphanet:280774|UMLS:C0473555|OMIM:187260 SNOMEDCT:238763007|UMLS:C0473555|http://identifiers.org/omim/187260|ORPHA:280774 http://purl.obolibrary.org/obo/MONDO_0008534 telangiectasia, hereditary benign|telangiectasia, generalized essential|Hbt|GET ordo_disease MONDO:0008533 teeth, supernumerary biolink:Disease mondo MESH:D014096|ICD10:K00.1|SCTID:8666004|OMIM:187100 An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. http://identifiers.org/omim/187100|MESH:D014096|SNOMEDCT:8666004 http://purl.obolibrary.org/obo/MONDO_0008533 teeth, supernumerary MONDO:0008532 teeth present at birth (disease) biolink:Disease mondo HP:0000695|SCTID:21995002|OMIM:187050 http://identifiers.org/omim/187050|SNOMEDCT:21995002 http://purl.obolibrary.org/obo/MONDO_0008532 teeth present AT birth|teeth present at birth|Natal teeth MONDO:0008531 obsolete T-complex locus TCP10B biolink:Disease mondo OMIM:187030 http://identifiers.org/omim/187030 http://purl.obolibrary.org/obo/MONDO_0008531 TCP10B|T-complex locus TCP10B|T-complex locus TCP10B; TCP10B MONDO:0008530 teeth, odd shapes of biolink:Disease mondo MESH:C566076|OMIM:187000|UMLS:C1861274 UMLS:C1861274|MESH:C566076|http://identifiers.org/omim/187000 http://purl.obolibrary.org/obo/MONDO_0008530 conical teeth, multiple|teeth, odd shapes of|Lobodontia CL:0019003 tracheobronchial goblet cell biolink:Cell mondo Any goblet cell that is part of the tracheobronchial epithelium. http://purl.obolibrary.org/obo/CL_0019003 goblet cell of tracheobronchial tree CL:0019002 tracheobronchial chondrocyte biolink:Cell mondo Any chondrocyte that is part of the tracheobronchial tree. http://purl.obolibrary.org/obo/CL_0019002 chondrocyte of tracheobronchial tree MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive biolink:Disease mondo OMIM:618973 http://identifiers.org/omim/618973 http://purl.obolibrary.org/obo/MONDO_0033546 Smvt Deficiency|NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB|Sodium-Dependent Multivitamin Transporter Deficiency MONDO:0021503 benign neoplasm of gallbladder biolink:Disease mondo UMLS:C0345912|NCIT:C4440|SCTID:92117002 A benign neoplasm that involves the gall bladder. NCIT:C4440|UMLS:C0345912|SNOMEDCT:92117002 http://purl.obolibrary.org/obo/MONDO_0021503 gallbladder benign tumor|benign gallbladder neoplasm|gall bladder benign neoplasm|benign neoplasm of the gallbladder|benign gallbladder tumor|benign tumor of the gallbladder|benign tumor of gallbladder|gallbladder benign neoplasm MONDO:0033545 mitochondrial DNA depletion syndrome 19 biolink:Disease mondo OMIM:618972 http://identifiers.org/omim/618972 http://purl.obolibrary.org/obo/MONDO_0033545 MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 MONDO:0033544 Tolchin-Le Caignec syndrome biolink:Disease mondo OMIM:618971 http://identifiers.org/omim/618971 http://purl.obolibrary.org/obo/MONDO_0033544 TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS|intellectual developmental disorder With behavioral abnormalities and variable bone defects MONDO:0021504 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021504 MONDO:0021505 benign neoplasm of endocardium biolink:Disease mondo NCIT:C4608|SCTID:92083007|UMLS:C0347254 A benign neoplasm that involves the endocardium. UMLS:C0347254|NCIT:C4608|SNOMEDCT:92083007 http://purl.obolibrary.org/obo/MONDO_0021505 endocardium benign neoplasm|benign endocardial tumor|benign neoplasm of the endocardium|benign endocardial neoplasm|benign tumor of the endocardium|benign tumor of endocardium MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive biolink:Disease mondo OMIM:618970 http://identifiers.org/omim/618970 http://purl.obolibrary.org/obo/MONDO_0033543 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS MONDO:0021506 benign neoplasm of spinal cord biolink:Disease mondo ICD10:D33.4|UMLS:C0154034|ICD9:225.3|SCTID:92405007|NCIT:C3627 A benign neoplasm that involves the spinal cord. SNOMEDCT:92405007|NCIT:C3627|UMLS:C0154034 http://purl.obolibrary.org/obo/MONDO_0021506 benign neoplasm of the spinal cord|spinal cord benign neoplasm|benign tumor of the spinal cord|benign spinal cord tumor|benign tumor of spinal cord|benign spinal cord neoplasm|spinal cord neoplasm, benign MONDO:0033542 immunodeficiency 70 biolink:Disease mondo OMIM:618969 http://identifiers.org/omim/618969 http://purl.obolibrary.org/obo/MONDO_0033542 IMMUNODEFICIENCY 70; IMD70 MONDO:0033541 immunodeficiency 69 biolink:Disease mondo OMIM:618963 http://identifiers.org/omim/618963 http://purl.obolibrary.org/obo/MONDO_0033541 IMMUNODEFICIENCY 69; IMD69|Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive|Ifng Deficiency, Autosomal Recessive MONDO:0021507 benign neoplasm of brain stem biolink:Disease mondo UMLS:C0686400|NCIT:C8549|SCTID:92029009 A benign neoplasm that involves the brainstem. UMLS:C0686400|NCIT:C8549|SNOMEDCT:92029009 http://purl.obolibrary.org/obo/MONDO_0021507 benign brainstem tumor|benign brainstem neoplasm|benign tumor of the brainstem|benign tumor of brainstem|benign tumor of brain stem|benign brainstem tumors|benign brainstem neoplasms|benign tumor of the brain stem|brainstem benign neoplasm|benign neoplasm of the brain stem|benign brain stem tumor|benign brain stem neoplasms|benign brain stem neoplasm|benign tumors of the brainstem|benign tumors of brainstem|benign neoplasms of the brainstem|benign neoplasm of the brainstem|benign neoplasms of brainstem|benign neoplasm of brainstem HGNC:18455 PROK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18455 MONDO:0021508 benign neoplasm of epicardium biolink:Disease mondo SCTID:92087008|NCIT:C8535|UMLS:C0685115 A benign neoplasm that involves the epicardium. NCIT:C8535|UMLS:C0685115|SNOMEDCT:92087008 http://purl.obolibrary.org/obo/MONDO_0021508 benign epicardial tumor|benign tumor of epicardium|epicardium benign neoplasm|benign tumor of the epicardium|benign neoplasm of the epicardium|benign epicardial neoplasm CL:0007010 preosteoblast biolink:Cell mondo Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells. http://purl.obolibrary.org/obo/CL_0007010 osteoprogenitor cell MONDO:0021509 benign neoplasm of myocardium biolink:Disease mondo UMLS:C0347253|SCTID:92238001|NCIT:C4607 A benign neoplasm that involves the myocardium. SNOMEDCT:92238001|UMLS:C0347253|NCIT:C4607 http://purl.obolibrary.org/obo/MONDO_0021509 benign myocardial tumor|benign tumor of myocardium|benign myocardial neoplasm|benign tumor of the myocardium|benign neoplasm of the myocardium|myocardium benign neoplasm HGNC:18453 NAXE biolink:OntologyClass mondo http://identifiers.org/hgnc/18453 MONDO:0033549 optic atrophy 12 biolink:Disease mondo OMIM:618977 http://identifiers.org/omim/618977 http://purl.obolibrary.org/obo/MONDO_0033549 OPTIC ATROPHY 12; OPA12 MONDO:0008549 thoracic dysostosis, isolated biolink:Disease mondo MESH:C566063|UMLS:C1861204|OMIM:187750 http://identifiers.org/omim/187750|UMLS:C1861204|MESH:C566063 http://purl.obolibrary.org/obo/MONDO_0008549 thoracic dysostosis, isolated MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies biolink:Disease mondo OMIM:618975 http://identifiers.org/omim/618975 http://purl.obolibrary.org/obo/MONDO_0033548 Myopathy, Congenital, Due to Myod1 Deficiency|MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF MONDO:0021500 benign neoplasm of spleen biolink:Disease mondo ICD9:211.9|SCTID:92408009|NCIT:C4902|UMLS:C0686615 A benign neoplasm that involves the spleen. NCIT:C4902|UMLS:C0686615|SNOMEDCT:92408009 http://purl.obolibrary.org/obo/MONDO_0021500 spleen benign neoplasm|benign splenic neoplasm|benign neoplasm of the spleen MONDO:0008548 theophylline Biotransformation biolink:Disease mondo UMLS:C1861211|OMIM:187650 http://identifiers.org/omim/187650|UMLS:C1861211 http://purl.obolibrary.org/obo/MONDO_0008548 theophylline Biotransformation MONDO:0021501 benign neoplasm of small intestine biolink:Disease mondo NCIT:C3600|SCTID:92385005|UMLS:C0153944|ICD9:211.2 A benign neoplasm that involves the small intestine. SNOMEDCT:92385005|NCIT:C3600|UMLS:C0153944 http://purl.obolibrary.org/obo/MONDO_0021501 small intestine benign neoplasm|benign small intestinal neoplasm NOS|benign small intestinal neoplasm|benign small intestinal tumor|benign neoplasm of the small intestine|benign small intestine tumor|benign tumor of the small intestine|benign tumor of small intestine|benign small intestine neoplasm MONDO:0008547 thanatophoric dysplasia type 2 biolink:Disease mondo UMLS:CN206542|ICD10:Q77.1|SCTID:389158007|UMLS:C1300257|MESH:C536508|NCIT:C98584|ICD9:742.59|GARD:0001402|Orphanet:93274|OMIM:187601 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. UMLS:CN206542|NCIT:C98584|ORPHA:93274|http://identifiers.org/omim/187601|MESH:C536508|SNOMEDCT:389158007|UMLS:C1300257 http://purl.obolibrary.org/obo/MONDO_0008547 thanatophoric dwarfism type 2|type 2 thanatophoric dysplasia|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia, type II|thanatophoric dysplasia with Kleeblattschaedel|TD2|cloverleaf skull with thanatophoric dwarfism|thanatophoric dwarfism - cloverleaf skull|thanatophoric dysplasia type II|thanatophoric dysplasia with straight femurs and cloverleaf skull|thanatophoric dysplasia, type 2|thanatophoric dwarfism-cloverleaf skull syndrome|thanatophoric dysplasia, type II; TD2 ordo_clinical_subtype|gard_rare MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome biolink:Disease mondo OMIM:618974 http://identifiers.org/omim/618974 http://purl.obolibrary.org/obo/MONDO_0033547 LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS MONDO:0008546 thanatophoric dysplasia type 1 biolink:Disease mondo UMLS:C1300256|UMLS:C1868678|ICD10:Q77.1|GARD:0009295|NCIT:C98583|GARD:0004889|Orphanet:1860|OMIM:187600 Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. NCIT:C98583|UMLS:C2931282|http://identifiers.org/omim/187600|ORPHA:1860|UMLS:C1868678|UMLS:C1300256 http://purl.obolibrary.org/obo/MONDO_0008546 PLSD San Diego type|type 1 thanatophoric dysplasia|thanatophoric dwarfism 1|thanatophoric dwarfism type 1|TD1|thanatophoric dysplasia type I|Platyspondylic lethal skeletal dysplasia, San Diego type|lethal short-limbed Platyspondylic dwarfism, San Diego type|thanatophoric dysplasia, type I|thanatophoric dysplasia|thanatophoric dwarfism|thanatophoric dysplasia, type I; TD1|thanatophoric dysplasia, type 1 ordo_clinical_subtype MONDO:0008545 thalassemia, beta+, silent allele biolink:Disease mondo MESH:C566065|UMLS:C1861232|OMIM:187550 http://identifiers.org/omim/187550|UMLS:C1861232|MESH:C566065 http://purl.obolibrary.org/obo/MONDO_0008545 thalassemia, beta+, silent allele MONDO:0008544 tetramelic monodactyly biolink:Disease mondo ICD10:Q73.8|UMLS:C1861233|GARD:0003707|Orphanet:2564|OMIM:187510|MESH:C566066 Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. http://identifiers.org/omim/187510|UMLS:C1861233|ORPHA:2564|MESH:C566066 http://purl.obolibrary.org/obo/MONDO_0008544 Sommer-Hines syndrome|tetramelic monodactyly with autosomal dominant inheritance|tetramelic monodactyly|Sommer Hines syndrome gard_rare|ordo_malformation_syndrome MONDO:0008543 tetralogy of fallot and glaucoma biolink:Disease mondo OMIM:187501|GARD:0010107|UMLS:C1861234|MESH:C536501 http://identifiers.org/omim/187501|UMLS:C1861234|MESH:C536501 http://purl.obolibrary.org/obo/MONDO_0008543 tetralogy of fallot and glaucoma|familial tetralogy of fallot and glaucoma gard_rare MONDO:0008542 tetralogy of fallot biolink:Disease mondo MedDRA:10016193|NCIT:C84505|COHD:320835|DOID:6419|OMIM:187500|Orphanet:3303|SCTID:86299006|GARD:0002245|ICD9:745.2|MESH:D013771|UMLS:C0039685|ICD10:Q21.3 Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. http://identifiers.org/omim/187500|NCIT:C84505|ORPHA:3303|DOID:6419|UMLS:C0039685|MESH:D013771|SNOMEDCT:86299006|MEDDRA:10016193 http://purl.obolibrary.org/obo/MONDO_0008542 ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle|TOF|tetralogy of FALLOT; TOF|Fallot tetralogy|tetralogy of fallot clingen|gard_rare|ordo_malformation_syndrome MONDO:0008541 spermatic cord torsion biolink:Disease mondo OMIM:187400|UMLS:C0037856|NCIT:C26885|ICD10:N44.02|ICD10:N44.00|SCTID:81996005|ICD10:N44.0|MESH:D013086|ICD9:608.20|COHD:435315|DOID:11996|ICD9:608.2 An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. http://identifiers.org/omim/187400|NCIT:C26885|DOID:11996|SNOMEDCT:81996005|MESH:D013086|UMLS:C0037856 http://purl.obolibrary.org/obo/MONDO_0008541 torsion of testicular cord|testicular torsion|torsion of testicle|torsion of testis MONDO:0008540 extensor tendons of finger anomalies biolink:Disease mondo GARD:0002597|Orphanet:3294|UMLS:C2931376|OMIM:187390|MESH:C566068 ORPHA:3294|MESH:C566068|http://identifiers.org/omim/187390|UMLS:C2931376 http://purl.obolibrary.org/obo/MONDO_0008540 Hapnes-Boman-Skeie syndrome|anomalous insertion of extensor tendons of fingers|tendons, extensor, of fingers, anomalous insertion OF|Hapnes Boman Skeie syndrome ordo_malformation_syndrome GO:0043648 dicarboxylic acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/GO_0043648 dicarboxylate metabolism|dicarboxylate metabolic process|dicarboxylic acid metabolism HGNC:1097 BRAF biolink:OntologyClass mondo http://identifiers.org/hgnc/1097 HGNC:1092 FOXL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1092 HGNC:1093 BPGM biolink:OntologyClass mondo http://identifiers.org/hgnc/1093 NCBITaxon:31604 Small ruminant morbillivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_31604 Pseudorinderpest virus HGNC:1090 DST biolink:OntologyClass mondo http://identifiers.org/hgnc/1090 MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 biolink:Disease mondo OMIM:618998 http://identifiers.org/omim/618998 http://purl.obolibrary.org/obo/MONDO_0033557 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6; FHL6 MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 biolink:Disease mondo OMIM:618992 http://identifiers.org/omim/618992 http://purl.obolibrary.org/obo/MONDO_0033556 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15|Muscular Dystrophy, Congenital, Dpm3-Related MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia biolink:Disease mondo OMIM:618987 http://identifiers.org/omim/618987 http://purl.obolibrary.org/obo/MONDO_0033555 IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia biolink:Disease mondo OMIM:618986 http://identifiers.org/omim/618986 http://purl.obolibrary.org/obo/MONDO_0033554 IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B MONDO:0033552 blood group, lewis system biolink:Disease mondo OMIM:618983 http://identifiers.org/omim/618983 http://purl.obolibrary.org/obo/MONDO_0033552 Lewis-Negative Phenotype|BLOOD GROUP, LEWIS SYSTEM; LE|Lewis Blood Group System HGNC:18466 RNASEH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18466 MONDO:0033551 immunodeficiency 72 with autoinflammation biolink:Disease mondo OMIM:618982 http://identifiers.org/omim/618982 http://purl.obolibrary.org/obo/MONDO_0033551 IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 biolink:Disease mondo OMIM:618979 http://identifiers.org/omim/618979 http://purl.obolibrary.org/obo/MONDO_0033550 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; HDLCQ7 MONDO:0021571 multiple sclerosis, susceptibility to 1 biolink:Disease mondo UMLS:CN031763|OMIM:126200 http://identifiers.org/omim/126200|UMLS:CN031763 http://purl.obolibrary.org/obo/MONDO_0021571 multiple sclerosis, susceptibility to; MS|multiple sclerosis, susceptibility to|MS1|multiple sclerosis, susceptibility to, 1|disseminated sclerosis|susceptibility to multiple sclerosis|MS predisposition MONDO:0021573 oocyte maturation defect 2 biolink:Disease mondo OMIM:616780|UMLS:C4225210 Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene. http://identifiers.org/omim/616780|UMLS:C4225210 http://purl.obolibrary.org/obo/MONDO_0021573 oocyte maturation defect 2; OOMD2|OOMD2|inherited oocyte maturation defect caused by mutation in TUBB8|oocyte maturation defect 2|TUBB8 inherited oocyte maturation defect MONDO:0021574 oocyte maturation defect 3 biolink:Disease mondo OMIM:617712 http://identifiers.org/omim/617712 http://purl.obolibrary.org/obo/MONDO_0021574 oocyte maturation defect 3|OOMD3|oocyte maturation defect 3; OOMD3 MONDO:0021575 oocyte maturation defect 4 biolink:Disease mondo UMLS:CN562785|OMIM:617743 http://identifiers.org/omim/617743|UMLS:CN562785 http://purl.obolibrary.org/obo/MONDO_0021575 oocyte maturation defect 4; OOMD4|OOMD4|oocyte maturation defect 4 MONDO:0021576 fallopian tube endometrioid tumor biolink:Disease mondo NCIT:C40111|UMLS:C1517113 A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. UMLS:C1517113|NCIT:C40111 http://purl.obolibrary.org/obo/MONDO_0021576 fallopian tube endometrioid neoplasm|fallopian tube endometrium neoplasm|fallopian tube endometrioid tumor|endometrium neoplasm of fallopian tube MONDO:0021577 malignant mediastinal neural neoplasm biolink:Disease mondo SCTID:278044006|UMLS:C0349665 UMLS:C0349665|SNOMEDCT:278044006 http://purl.obolibrary.org/obo/MONDO_0021577 malignant neuroma of mediastinum MONDO:0021578 sternal neoplasm biolink:Disease mondo ICD9:239.2|UMLS:C1290244|NCIT:C6730|SCTID:126559003 A benign or malignant neoplasm that affects the sternum. NCIT:C6730|UMLS:C1290244|SNOMEDCT:126559003 http://purl.obolibrary.org/obo/MONDO_0021578 neoplasm of sternum (disease)|neoplasm of sternum|tumor of the sternum|sternum tumor|neoplasm of sternum (disorder)|sternum neoplasm (disease)|sternal neoplasm|sternal tumor|tumor of sternum|neoplasm of the sternum|sternum neoplasm MONDO:0008599 trigeminal neuralgia biolink:Disease mondo ICD9:350.1|DOID:12098|GARD:0007805|Orphanet:221091|COHD:379801|MedDRA:10044652|MESH:D014277|OMIM:190400|ICD10:G50.0|EFO:1001219|SCTID:31681005|UMLS:C0040997 Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. DOID:12098|UMLS:C0040997|MEDDRA:10044652|ORPHA:221091|SNOMEDCT:31681005|http://identifiers.org/omim/190400|MESH:D014277 http://purl.obolibrary.org/obo/MONDO_0008599 trifacial neuralgia|trigeminal nerve neuralgia|trigeminal neuralgia|Tic douloureux|trifocal neuralgia|neuralgia of trigeminal nerve ordo_disease|gard_rare MONDO:0008598 trichodysplasia-xeroderma syndrome biolink:Disease mondo GARD:0005261|OMIM:190360|MESH:C566032|Orphanet:3361|UMLS:C1860822 Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. MESH:C566032|UMLS:C1860822|http://identifiers.org/omim/190360|ORPHA:3361 http://purl.obolibrary.org/obo/MONDO_0008598 trichodysplasia xeroderma|trichodysplasia-xeroderma ordo_malformation_syndrome MONDO:0008597 trichorhinophalangeal syndrome, type III biolink:Disease mondo GARD:0007802|OMIM:190351|UMLS:C1860823 A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. UMLS:C1860823|http://identifiers.org/omim/190351 http://purl.obolibrary.org/obo/MONDO_0008597 trichorhinophalangeal syndrome type 3|trichorhinophalangeal syndrome, type III; TRPS3|trichorhinophalangeal syndrome, type 3|Sugio-Kajii syndrome|TRPS 3|TRPS3 MONDO:0008596 trichorhinophalangeal syndrome type I biolink:Disease mondo GARD:0007800|MESH:C536820|SCTID:254091006|NCIT:C75109|ICD9:759.89|DOID:14743|OMIM:190350 An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. NCIT:C75109|SNOMEDCT:254091006|DOID:14743|MESH:C536820|http://identifiers.org/omim/190350 http://purl.obolibrary.org/obo/MONDO_0008596 TRPS 1|trichorhinophalangeal syndrome, type 1|trichorhinophalangeal syndrome, type I; TRPS1|trichorhinophalangeal dysplasia type I|TRPS1|Giedion syndrome|trichorhinophalangeal syndrome, type I|type I trichorhinophalangeal syndrome|type III trichorhinophalangeal syndrome|trichorhinophalangeal syndrome type 1|Sugio-Kajii syndrome MONDO:0008595 trichoepitheliomas, multiple desmoplastic biolink:Disease mondo OMIM:190345|MESH:C566034|UMLS:C1860849 UMLS:C1860849|http://identifiers.org/omim/190345|MESH:C566034 http://purl.obolibrary.org/obo/MONDO_0008595 trichoepitheliomas, multiple desmoplastic MONDO:0008594 familial multiple discoid fibromas biolink:Disease mondo UMLS:C1860850|Orphanet:538756|GARD:0008479|OMIM:190340|MESH:C536847 A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation. UMLS:C1860850|MESH:C536847|ORPHA:538756|http://identifiers.org/omim/190340 http://purl.obolibrary.org/obo/MONDO_0008594 familial multiple trichodiscomas|FMDF|discoid fibromas, familial multiple; FMDF|hereditary multiple trichodiscomas|small benign fibrovascular tumor of the dermal part of the hair disk|discoid fibromas, familial multiple|trichodiscomas, familial multiple ordo_disease MONDO:0021570 Hauptmann-Thannhauser muscular dystrophy biolink:Disease mondo SCTID:240072005|ICD9:425.4 SNOMEDCT:240072005 http://purl.obolibrary.org/obo/MONDO_0021570 benign scapuloperoneal muscular dystrophy with cardiomyopathy MONDO:0008593 trichomegaly biolink:Disease mondo OMIM:190330 http://identifiers.org/omim/190330 http://purl.obolibrary.org/obo/MONDO_0008593 trichomegaly|TCMGLY|eyelashes, long|trichomegaly; TCMGLY MONDO:0008592 tricho-dento-osseous syndrome biolink:Disease mondo SCTID:38993008|GARD:0007799|ICD9:759.89|OMIM:190320|ICD10:Q82.4|Orphanet:3352|MESH:C536549|GARD:0005252 Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull. MESH:C536549|SNOMEDCT:38993008|http://identifiers.org/omim/190320|ORPHA:3352|UMLS:C0265333 http://purl.obolibrary.org/obo/MONDO_0008592 Tricho-dento-osseous syndrome 1|enamel hypoplasia and hypocalcification with associated strikingly curly hair|TDO syndrome|TRICHODENTOOSSEOUS syndrome|TDO syndrome 1|TRICHODENTOOSSEOUS syndrome; TDO|kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails|TDO ordo_malformation_syndrome|gard_rare MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome biolink:Disease mondo UMLS:C1860860|OMIM:190310|Orphanet:3350|GARD:0003948|MESH:C536406 MESH:C536406|UMLS:C1860860|http://identifiers.org/omim/190310|ORPHA:3350 http://purl.obolibrary.org/obo/MONDO_0008591 Neuhauser-Daly-Magnelli syndrome|Neuhauser Daly Magnelli syndrome|tremor, NYSTAGMUS, and duodenal ulcer|tremor nystagmus duodenal ulcer ordo_disease|gard_rare MONDO:0008590 tremor, hereditary essential, 1 biolink:Disease mondo MESH:C536545|UMLS:C1860861|OMIM:190300|GARD:0005244 Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene. MESH:C536545|UMLS:C1860861|http://identifiers.org/omim/190300 http://purl.obolibrary.org/obo/MONDO_0008590 tremor hereditary essential, 1|tremor, familial essential, 1|tremor, hereditary essential, 1; ETM1|DRD3 essential tremor|essential tremor caused by mutation in DRD3|ETM1|tremor familial essential, 1|tremor, hereditary essential, type 1|tremor, hereditary essential, 1|FET1 MONDO:0021568 renal tubule disease biolink:Disease mondo UMLS:C0151747|SCTID:95568003|ICD9:588.89 A disease that involves the renal tubule. SNOMEDCT:95568003|UMLS:C0151747 http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease or disorder|disorder of renal tubule|renal tubular disease|disease of renal tubule|disorder of renal tubule|disease or disorder of renal tubule|renal tubule disease|renal tubular disorder MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant biolink:Disease mondo GARD:0010230|DOID:0110301|UMLS:C1834653|OMIM:181350|NCIT:C126745|UMLS:C0410190|OMIM:159001|Orphanet:264|ICD10:G71.0|DOID:0070247|SCTID:718178006|MESH:C535898 Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene. http://identifiers.org/omim/181350|SNOMEDCT:718178006|http://identifiers.org/omim/159001|DOID:0110301|MESH:C535898|NCIT:C126745|DOID:0070247|UMLS:C1834653|UMLS:C0410190|ORPHA:264 http://purl.obolibrary.org/obo/MONDO_0021569 muscular dystrophy, limb-girdle type 1B|scapuloilioperoneal atrophy with cardiopathy|muscular dystrophy, limb-girdle, type 1B; LGMD1B|proximal muscular dystrophy type 1B|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|Emery-Dreifuss muscular dystrophy, autosomal dominant|muscular dystrophy, proximal, type 1B|autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA|EDMD2|limb-girdle muscular dystrophy type 1B|autosomal dominant limb-girdle muscular dystrophy type 1B|LGMD1B|EMD2|Hauptmann-Thannhauser muscular dystrophy|muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant|limb-girdle muscular dystrophy due to lamin A/C deficiency|LMNA autosomal dominant limb-girdle muscular dystrophy|Emery-Dreifuss muscular dystrophy 2, autosomal dominant; EDMD2|muscular dystrophy, limb-girdle, type 1B ordo_disease|gard_rare MONDO:0021562 omphalitis biolink:Disease mondo GTR:AN0533760|NCIT:C116008|SCTID:239095007|UMLS:C0028992 Inflammation of the umbilical cord stump in newborns. SNOMEDCT:239095007|UMLS:C0028992|NCIT:C116008 http://purl.obolibrary.org/obo/MONDO_0021562 Omphalitis|omphalitis CL:0007009 prechondroblast biolink:Cell mondo Skeletogenic cell that has the potential to develop into a chondroblast; and arises from neural crest, meseosdermal and notochordal and connective tissue cells. http://purl.obolibrary.org/obo/CL_0007009 MONDO:0021559 non-autoimmune hemolytic anemia biolink:Disease mondo ICD9:283.19|UMLS:C0028283|ICD9:283.10|NCIT:C34853|SCTID:191216004 Hemolytic anemia that is not mediated by immune mechanisms. SNOMEDCT:191216004|NCIT:C34853|UMLS:C0028283 http://purl.obolibrary.org/obo/MONDO_0021559 non-autoimmune hemolytic anemia|Non-Autoimmune Hemolytic Anemia|Non-autoimmune hemolytic anemia CL:0007004 premigratory neural crest cell biolink:Cell mondo Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. http://purl.obolibrary.org/obo/CL_0007004 CL:0007000 preameloblast biolink:Cell mondo Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins. http://purl.obolibrary.org/obo/CL_0007000 MONDO:0021553 transverse myelitis biolink:Disease mondo GARD:0007796|UMLS:C0026976|SCTID:16631009|ICD9:323.9 SNOMEDCT:16631009|UMLS:C0026976 http://purl.obolibrary.org/obo/MONDO_0021553 Transverse myelitis|Transverse myelopathy syndrome|transverse myelopathy syndrome|Transverse Myelopathy Syndromes|transverse myelitis|Transverse Myelitis|Myelitis, Transverse|Transverse Myelopathy Syndrome gard_rare MONDO:0021556 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021556 MONDO:0008579 toes, relative length of first and second biolink:Disease mondo OMIM:189200 http://identifiers.org/omim/189200 http://purl.obolibrary.org/obo/MONDO_0008579 toes, relative length of first and second MONDO:0008578 toe, rotated fifth biolink:Disease mondo OMIM:189150 http://identifiers.org/omim/189150 http://purl.obolibrary.org/obo/MONDO_0008578 toe, rotated fifth MONDO:0008577 toe, misshapen biolink:Disease mondo OMIM:189100 http://identifiers.org/omim/189100 http://purl.obolibrary.org/obo/MONDO_0008577 toe, misshapen MONDO:0008576 toe, fifth, number of phalanges 1N biolink:Disease mondo OMIM:189000 http://identifiers.org/omim/189000 http://purl.obolibrary.org/obo/MONDO_0008576 toe, fifth, number of phalanges type 1N|toe, fifth, number of phalanges IN MONDO:0008575 nicotine dependence biolink:Disease mondo NCIT:C54203|MESH:D014029|ICD10:F17.20|SCTID:56294008|ICD10:F17|ICD10:F17.2|DOID:0050742|EFO:0003768|ICD9:305.1|OMIM:188890 Physical and psychological dependence on nicotine. MESH:D014029|SNOMEDCT:56294008|DOID:0050742|http://identifiers.org/omim/188890|NCIT:C54203 http://purl.obolibrary.org/obo/MONDO_0008575 tobacco use disorder|smoking habit, susceptibility to|nicotine addiction, susceptibility to|nicotine dependence, susceptibility to|tobacco addiction, susceptibility to|cigarette habituation, susceptibility to|susceptibility to tobacco addiction|nicotine addiction MONDO:0008574 obsolete Tl antigen biolink:Disease mondo OMIM:188850 http://identifiers.org/omim/188850 http://purl.obolibrary.org/obo/MONDO_0008574 Tl antigen|Thymus leukemia antigen|histocompatibility 2, T-region locus 18 MONDO:0008573 tibial torsion, bilateral medial biolink:Disease mondo MESH:C566045|UMLS:C1861097|OMIM:188800 UMLS:C1861097|MESH:C566045|http://identifiers.org/omim/188800 http://purl.obolibrary.org/obo/MONDO_0008573 tibial torsion, bilateral medial MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly biolink:Disease mondo MESH:C566046|OMIM:188740 MESH:C566046|http://identifiers.org/omim/188740 http://purl.obolibrary.org/obo/MONDO_0008572 tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia|THYP|tibia, hypoplasia or aplasia of, with polydactyly; THYP|tibia, hypoplasia or aplasia of, with polydactyly MONDO:0008571 Blount disease, infantile biolink:Disease mondo UMLS:C3150037|OMIM:188700 UMLS:C3150037|http://identifiers.org/omim/188700 http://purl.obolibrary.org/obo/MONDO_0008571 tibia vara, infantile|Osteochondrosis deformans tibiae, infantile|Blount disease, infantile MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 biolink:Disease mondo OMIM:188580 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene. http://identifiers.org/omim/188580 http://purl.obolibrary.org/obo/MONDO_0008570 thyrotoxic periodic paralysis, susceptibility to, 1|thyrotoxic periodic paralysis, susceptibility to, 1; TTPP1|CACNA1S thyrotoxic periodic paralysis|thyrotoxic periodic paralysis caused by mutation in CACNA1S|thyrotoxic periodic paralysis, susceptibility to, type 1|TTPP1 predisposition MONDO:0021546 ependymal tumor of spinal cord biolink:Disease mondo NCIT:C131526|UMLS:C4318747 An ependymal tumor that arises from the spinal cord. UMLS:C4318747|NCIT:C131526 http://purl.obolibrary.org/obo/MONDO_0021546 ependymal tumor of spinal cord|spinal cord ependymal tumor MONDO:0021547 amelogenesis imperfecta type 3B biolink:Disease mondo UMLS:CN373594|DOID:0080243|OMIM:617607 DOID:0080243|UMLS:CN373594|http://identifiers.org/omim/617607 http://purl.obolibrary.org/obo/MONDO_0021547 AI3B|amelogenesis imperfecta, type 3B|amelogenesis imperfecta, type IIIB|amelogenesis imperfecta, type IIIB; AI3B MONDO:0021548 total early-onset cataract biolink:Disease mondo Orphanet:98994|ICD10:Q12.0|GARD:0001159 UMLS:C0266539|ORPHA:98994|MESH:C535341 http://purl.obolibrary.org/obo/MONDO_0021548 CCT|cataract, total congenital|cataract, total congenital with posterior sutural opacities in heterozygotes ordo_clinical_subtype MONDO:0021540 hamartoma of lung biolink:Disease mondo SCTID:254644003|ICD9:235.7|UMLS:C0149927|NCIT:C3497 A hamartoma (disease) that involves the lung. SNOMEDCT:254644003|NCIT:C3497|UMLS:C0149927 http://purl.obolibrary.org/obo/MONDO_0021540 lung hamartoma (disease)|lung chondroid hamartoma|hamartoma of the lung|pulmonary hamartoma|lung hamartoma MONDO:0021541 hemangioma of retina biolink:Disease mondo SCTID:93470007|NCIT:C3634|ICD9:228.03|UMLS:C0154051 A hemangioma that involves the retina. UMLS:C0154051|SNOMEDCT:93470007|NCIT:C3634 http://purl.obolibrary.org/obo/MONDO_0021541 angioma of retina|angioma of the retina|hemangioma of the retina|retinal angioma|retinal hemangioma|retina hemangioma|retina angioma MONDO:0021542 hemangioma of choroid biolink:Disease mondo NCIT:C4562|ICD9:228.09|SCTID:255022003|UMLS:C0346390 A hemangioma that involves the optic choroid. NCIT:C4562|UMLS:C0346390|SNOMEDCT:255022003 http://purl.obolibrary.org/obo/MONDO_0021542 hemangioma, choroid, benign|choroid hemangioma|benign angioma of the choroid|benign angioma of choroid|optic choroid hemangioma|benign choroid hemangioma|benign choroid angioma|benign hemangioma of the choroid|benign hemangioma of choroid|hemangioma of optic choroid|hemangioma of the choroid|angioma of the choroid|choroid angioma|angioma of choroid MONDO:0021543 hemangioma of gingiva biolink:Disease mondo UMLS:C0582885|SCTID:304990002|NCIT:C4831|ICD9:228.09 A hemangioma that involves the gingiva. UMLS:C0582885|NCIT:C4831|SNOMEDCT:304990002 http://purl.obolibrary.org/obo/MONDO_0021543 gingiva hemangioma|gingival angioma|gum hemangioma|gum angioma|hemangioma of the gum|angioma of the gum|hemangioma of gum|angioma of gum|gingival hemangioma|hemangioma of the gingiva|angioma of the gingiva|angioma of gingiva MONDO:0021544 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021544 MONDO:0021545 myomatous neoplasm biolink:Disease mondo MESH:D009379|NCIT:C4063|MESH:D019042 A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. MESH:D019042|NCIT:C4063|MESH:D009379 http://purl.obolibrary.org/obo/MONDO_0021545 neoplasm of muscle|neoplasm of the muscle|muscle tumor|myoblastomas|myomatous tumor|myofibroblastoma|muscle tissue neoplasm|muscle tissue neoplasms|tumor of muscle|myofibroblastomas|myoblastoma|tumor of the muscle|myomatous neoplasm|muscle neoplasm|neoplasm, muscle tissue MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis biolink:Disease mondo MESH:C566038|UMLS:C1860872|OMIM:190200 MESH:C566038|UMLS:C1860872|http://identifiers.org/omim/190200 http://purl.obolibrary.org/obo/MONDO_0008589 tremor of intention, ataxia, and lipofuscinosis MONDO:0008588 hereditary geniospasm biolink:Disease mondo OMIM:190100|SCTID:718103001|MESH:C537682|ICD10:G25.3|GARD:0009501|UMLS:C2931589|Orphanet:53372 Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip. MESH:C537682|ORPHA:53372|UMLS:C2931589|http://identifiers.org/omim/190100|SNOMEDCT:718103001 http://purl.obolibrary.org/obo/MONDO_0008588 trembling Chin|GSM1|hereditary chin tremor/myoclonus|GSM 1|geniospasm 1|hereditary chin myoclonus|hereditary chin-trembling|geniospasm 1; GSM1|familial trembling of the chin|geniospasm ordo_disease|gard_rare MONDO:0008587 tracheobronchopathia osteochondroplastica biolink:Disease mondo UMLS:CN204359|MESH:C536977|ICD10:J98.0|OMIM:189961|SCTID:54675009|Orphanet:3348|GARD:0005235 Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi. MESH:C536977|http://identifiers.org/omim/189961|UMLS:CN204359|SNOMEDCT:54675009|ORPHA:3348 http://purl.obolibrary.org/obo/MONDO_0008587 cartilaginous or bony projections into the tracheobronchial lumen|tracheobronchopathia osteoplastica|tracheopathia osteoplastica|tracheobronchopathia osteochondroplastica ordo_disease MONDO:0008586 esophageal atresia/tracheoesophageal fistula biolink:Disease mondo Orphanet:1199|SCTID:95435007|ICD10:Q39.1|DOID:0080171|MedDRA:10030146|ICD10:Q39.0|MESH:C531835|MedDRA:10021530|OMIM:189960|GARD:0007792 Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea. ORPHA:1199|DOID:0080171|UMLS:C0014850|MEDDRA:10021530|http://identifiers.org/omim/189960|MEDDRA:10030146|MESH:D004933|SNOMEDCT:95435007|MESH:C531835 http://purl.obolibrary.org/obo/MONDO_0008586 esophageal atresia and/or tracheoesophageal fistula|tracheoesophageal fistula with or without esophageal atresia|tracheoesophageal fistula|te fistula|tracheoesophageal fistula with or without esohageal atresia|esophageal atresia with or without tracheoesophageal fistula|TEF ordo_morphological_anomaly MONDO:0008585 HELLP syndrome biolink:Disease mondo ICD10:O14.2|DOID:13133|NCIT:C84750|MedDRA:10049058|GARD:0008528|Orphanet:244242|MESH:D017359|UMLS:C0162739|OMIM:189800|EFO:0007297 HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems. UMLS:C0162739|DOID:13133|http://identifiers.org/omim/189800|MESH:D017359|NCIT:C84750|MEDDRA:10049058|ORPHA:244242 http://purl.obolibrary.org/obo/MONDO_0008585 PREECLAMPSIA/eclampsia 1|PEE1|hypertension, pregnancy-induced|pee|hemolysis-elevated liver enzymes-low platelets syndrome|PREECLAMPSIA/eclampsia 1; PEE1|hemolysis, elevated liver enzymes, low platelets in pregnancy|Preg1|hemolysis, elevated liver enzymes, lowered platelets|hemolysis-elevated liver enzymes-Low Platelet count syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, and Low Platelet count gard_rare|ordo_disease MONDO:0008584 torus palatinus and torus mandibularis biolink:Disease mondo UMLS:C1861044|MESH:C566043|OMIM:189700 MESH:C566043|http://identifiers.org/omim/189700|UMLS:C1861044 http://purl.obolibrary.org/obo/MONDO_0008584 torus palatinus and torus mandibularis MONDO:0008583 inherited torticollis (disease) biolink:Disease mondo MESH:C535425|SCTID:70070008|SCTID:268240006|GARD:0004908|HP:0000473|COHD:440814|NCIT:C4811|OMIM:189600|ICD9:723.5 A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation. SNOMEDCT:268240006|SNOMEDCT:70070008|MESH:C535425|http://identifiers.org/omim/189600|NCIT:C4811 http://purl.obolibrary.org/obo/MONDO_0008583 congenital muscular torticollis|contracture of sternocleidomastoid muscle|congenital wryneck|torticollis, familial|torticollis|torticollis, congenital|familial torticollis|congenital wry neck|congenital sternomastoid torticollis|congenital torticollis|familial spasmodic torticollis|fibromatosis colli gard_rare MONDO:0008582 tooth and nail syndrome biolink:Disease mondo DOID:6678|ICD10:Q82.4|NCIT:C40553|OMIM:189500|UMLS:C0406735|SCTID:400036004|Orphanet:2228|GARD:0005587|MESH:C536736 Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. UMLS:C0406735|UMLS:C0406716|MESH:C536736|SNOMEDCT:400036004|http://identifiers.org/omim/189500|ORPHA:2228|NCIT:C40553|DOID:6678 http://purl.obolibrary.org/obo/MONDO_0008582 hypodontia with nail dysplasia|hypodontia-dysplasia of nails syndrome|Witkop syndrome|nail dysplasia with hypodontia|dysplasia of nails with hypodontia|hypoplastic enamel-onycholysis-hypohidrosis syndrome|TNS|hypodontia and nail dysplasia|hypodontia-nail dysgenesis syndrome|WITKOP syndrome|Witkop's syndrome|ectodermal dysplasia 3, Witkop type|hypodontia - dysplasia of nails|HND|ectodermal dysplasia 3, Tooth/nail type|hypodontia-nail dysplasia|tooth-and-nail syndrome|tooth and nail syndrome ordo_malformation_syndrome MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia biolink:Disease mondo OMIM:189490 http://identifiers.org/omim/189490 http://purl.obolibrary.org/obo/MONDO_0008581 ectopic eruption of teeth|malposition of teeth with or without hypodontia/oligodontia MONDO:0008580 toes, space between first and second biolink:Disease mondo OMIM:189230 http://identifiers.org/omim/189230 http://purl.obolibrary.org/obo/MONDO_0008580 toes, space between first and second MONDO:0021535 pancreatic neuroendocrine tumor G1 biolink:Disease mondo SCTID:254613007|NCIT:C95584 A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%. NCIT:C95584|SNOMEDCT:254613007 http://purl.obolibrary.org/obo/MONDO_0021535 pancreas neuroendocrine tumor, well differentiated, low grade|pancreas carcinoid tumor|pancreatic NET G1|pancreas neuroendocrine neoplasm G1|pancreas NET G1|pancreatic neuroendocrine tumor G1|grade 1 neuroendocrine neoplasm of pancreas|pancreas carcinoid tumor MONDO:0021536 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021536 MONDO:0021537 undifferentiated carcinoma of nasopharynx biolink:Disease mondo SCTID:422541001|NCIT:C8023|UMLS:C0279748 A undifferentiated carcinoma that involves the nasopharynx. UMLS:C0279748|NCIT:C8023|SNOMEDCT:422541001 http://purl.obolibrary.org/obo/MONDO_0021537 nasopharyngeal undifferentiated carcinoma|nasopharynx undifferentiated carcinoma|nasopharyngeal lymphoepithelioma|undifferentiated carcinoma of the nasopharynx|lymphoepithelioma of the nasopharynx|undifferentiated nasopharyngeal throat cancer|lymphoepithelioma of nasopharynx|nasopharyngeal nonkeratinizing undifferentiated carcinoma HGNC:18423 DEPDC5 biolink:OntologyClass mondo http://identifiers.org/hgnc/18423 MONDO:0021538 verrucous carcinoma of oral cavity biolink:Disease mondo UMLS:C0280306|SCTID:403889000|NCIT:C8174 A verrucous carcinoma that involves the oral cavity. NCIT:C8174|UMLS:C0280306|SNOMEDCT:403889000 http://purl.obolibrary.org/obo/MONDO_0021538 verrucous carcinoma of the oral cavity|verrucous carcinoma of the mouth|verrucous carcinoma of mouth|oral cavity verrucous carcinoma|oral cavity verrucous cancer|mouth verrucous carcinoma MONDO:0021539 hamartoma of skin appendage biolink:Disease mondo ICD9:759.6|SCTID:399906000|UMLS:C1302712|NCIT:C5562 A hamartoma (disease) that involves the cutaneous appendage. UMLS:C1302712|SNOMEDCT:399906000|NCIT:C5562 http://purl.obolibrary.org/obo/MONDO_0021539 skin appendage hamartoma|cutaneous appendage hamartoma (disease) HGNC:18420 SETD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18420 UBERON:0005475 sigmoid sinus biolink:AnatomicalEntity mondo A portion of the lateral venous sinus, bulging prominently into the mastoid cavity, that serves as a principal conduit by which blood leaves the cranium[EPIC]. The sigmoid is drained by the internal jugular vein http://purl.obolibrary.org/obo/UBERON_0005475 sulcus sigmoideus UBERON:0005473 sacral region biolink:AnatomicalEntity mondo A subdivision of an organism along the anterior-posterior axis in the pelvic region immediately posterior to the lumbar region and anterior to the caudal region. Sometimes an intermediate region is defined between the sacral and caudal. http://purl.obolibrary.org/obo/UBERON_0005473 croup|pelvic back|sacral part of pelvis|rump|hindquarter|back of pelvis|regio sacralis|posterior part of pelvis UBERON:0005472 right vitelline vein biolink:AnatomicalEntity mondo A vitelline vein that is in the right side of a multicellular organism. http://purl.obolibrary.org/obo/UBERON_0005472 HGNC:18518 RNASEH2A biolink:OntologyClass mondo http://identifiers.org/hgnc/18518 HGNC:18514 SPART biolink:OntologyClass mondo http://identifiers.org/hgnc/18514 HGNC:3642 FDXR biolink:OntologyClass mondo http://identifiers.org/hgnc/3642 UBERON:0005478 sulcus limitans of neural tube biolink:AnatomicalEntity mondo A longitudinal groove in the neural tube wall that divides the neural tube into dorsal (alar) and ventral (basal) halves (dorsal receives input from sensory neurons, ventral effects motor functions); stretches from the mesencephalon caudad[TMD]. http://purl.obolibrary.org/obo/UBERON_0005478 neural tube lateral wall sulcus limitans|sulcus limitans HP:0025132 Abnormal circulating estrogen level biolink:PhenotypicFeature mondo A deviation from normal concentration of the hormone estrogen in the blood circulation. http://purl.obolibrary.org/obo/HP_0025132 Abnormal circulating oestrogen level|Abnormal estrogen level UBERON:0005477 stomach fundus epithelium biolink:AnatomicalEntity mondo A simple columnar epithelium that is part of a fundus of stomach. http://purl.obolibrary.org/obo/UBERON_0005477 gastric epithelium of fundus|epithelium of fundus of stomach|gastric fundus epithelium MONDO:0008609 Tristichiasis biolink:Disease mondo OMIM:190800 http://identifiers.org/omim/190800 http://purl.obolibrary.org/obo/MONDO_0008609 eyelashes, three rows of|Tristichiasis MONDO:0008608 Down syndrome biolink:Disease mondo NIFSTD:nlx_dys_20090502|MedDRA:10044688|NCIT:C2993|Orphanet:870|UMLS:C0013080|MESH:D004314|OMIM:190685|ICD10:Q90|GARD:0010247|DOID:14250|ICD10:Q90.2|ICD10:Q90.1|ICD10:Q90.0|EFO:0001064|SCTID:41040004|ICD10:Q90.9|ICD9:758.0 Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. MESH:D004314|http://identifiers.org/omim/190685|UMLS:C0013080|NCIT:C2993|DOID:14250|ORPHA:870|SNOMEDCT:41040004|MEDDRA:10044688 http://purl.obolibrary.org/obo/MONDO_0008608 Down's syndrome - trisomy 21|Downs syndrome|transient myeloproliferative disorder of Down syndrome|G trisomy|trisomy 21 (Down syndrome)|Down syndrome chromosome region|Down syndrome|trisomy 21|Down's syndrome|Down syndrome critical region|complete trisomy 21 syndrome|trisomy 21 syndrome|leukemia, megakaryoblastic, of Down syndrome ordo_malformation_syndrome MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome biolink:Disease mondo ICD10:Q74.8|MESH:C536564|OMIM:190680|GARD:0005290|UMLS:C1860804|Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. http://identifiers.org/omim/190680|ORPHA:2947|MESH:C536564|UMLS:C1860804 http://purl.obolibrary.org/obo/MONDO_0008607 triphalangeal thumb and brachy-ectrodactyly syndrome|triphalangeal thumbs brachyectrodactyly|Carnevale-Hernández-del Castillo syndrome|triphalangeal thumb and brachyectrodactyly syndrome|triphalangeal thumbs with brachyectrodactyly ordo_malformation_syndrome MONDO:0008606 Say-field-Coldwell syndrome biolink:Disease mondo OMIM:190650|ICD10:Q74.8|GARD:0000242|MESH:C536619|UMLS:C1860805|Orphanet:3133 Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. ORPHA:3133|http://identifiers.org/omim/190650|MESH:C536619|UMLS:C1860805 http://purl.obolibrary.org/obo/MONDO_0008606 polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence|triphalangeal thumbs and dislocation of patella|triphalangeal thumbs-dislocation of patella syndrome gard_rare|ordo_malformation_syndrome MONDO:0008605 triphalangeal thumb, Nonopposable biolink:Disease mondo OMIM:190600|UMLS:C2931238|GARD:0005288|MESH:C536562 http://identifiers.org/omim/190600|MESH:C536562|UMLS:C2931238 http://purl.obolibrary.org/obo/MONDO_0008605 non-opposable triphalangeal thumb|triphalangeal thumb non opposable|TPT|triphalangeal thumb, Nonopposable MONDO:0008604 triphalangeal thumb with double phalanges biolink:Disease mondo UMLS:C1860807|MESH:C566028|OMIM:190500 http://identifiers.org/omim/190500|MESH:C566028|UMLS:C1860807 http://purl.obolibrary.org/obo/MONDO_0008604 triphalangeal thumb with double phalanges MONDO:0008603 trigonocephaly 1 biolink:Disease mondo OMIM:190440 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene. http://identifiers.org/omim/190440 http://purl.obolibrary.org/obo/MONDO_0008603 TRIGNO1|isolated trigonocephaly caused by mutation in FGFR1|trigonocephaly type 1|trigonocephaly 1|trigonocephaly 1; TRIGNO1|craniosynostosis, metopic|FGFR1 isolated trigonocephaly MONDO:0008602 triglyceride storage disease, type 2 biolink:Disease mondo UMLS:C1860820|OMIM:190430|MESH:C566030 MESH:C566030|UMLS:C1860820|http://identifiers.org/omim/190430 http://purl.obolibrary.org/obo/MONDO_0008602 triglyceride storage disease, type II HGNC:3647 FECH biolink:OntologyClass mondo http://identifiers.org/hgnc/3647 MONDO:0008601 triglyceride storage disease, type 1 biolink:Disease mondo UMLS:C1860821|OMIM:190420|MESH:C566031 MESH:C566031|UMLS:C1860821|http://identifiers.org/omim/190420 http://purl.obolibrary.org/obo/MONDO_0008601 triglyceride storage disease, type I MONDO:0008600 trigger thumb biolink:Disease mondo GARD:0008484|SCTID:42786005|MESH:D052582|OMIM:190410|UMLS:C0158328 A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58). UMLS:C0158328|MESH:D052582|http://identifiers.org/omim/190410|SNOMEDCT:42786005 http://purl.obolibrary.org/obo/MONDO_0008600 trigger thumb|bilateral trigger thumb (type)|congenital trigger thumb (type)|recurrent trigger thumb (type) gard_rare UBERON:0005463 subcapsular sinus of lymph node biolink:AnatomicalEntity mondo A space between the capsule and the cortex which allows the free movement of lymphatic fluid and so contains a sparsity of lymphocytes. It is continuous with the similar lymph sinuses that flank the trabeculae. http://purl.obolibrary.org/obo/UBERON_0005463 marginal sinus|lymph node subcortical sinus|marginal sinus of lymph node|subcapsular sinus|lymph sinus|lymph path UBERON:0005462 lower back biolink:AnatomicalEntity mondo Subdivision of abdominal segment of trunk which in humans is demarcated from the front of the abdomen by the posterior surface of the anterior layer of the thoracolumbar fascia and the anterior surface of the lumbar vertebral column; together with the front of the abdomen, it constitutes the abdomen[Modified from FMA]. http://purl.obolibrary.org/obo/UBERON_0005462 lumbar part of back|loin|lombus|posterior part of abdomen|dorsum of abdomen|lumbos|back of abdomen|lumbar region|regio lumbalis|lower back|abdominal back|lumbar region of back UBERON:0005461 levator scapulae muscle biolink:AnatomicalEntity mondo An axial muscle that originates in the cervical vertebraae inserts on the scapula. http://purl.obolibrary.org/obo/UBERON_0005461 levator scapulæ|levator scapula|levator scapulae|levator scapulae muscle|musculus levator scapulae UBERON:0005460 left vitelline vein biolink:AnatomicalEntity mondo A vitelline vein that is in the left side of a multicellular organism. http://purl.obolibrary.org/obo/UBERON_0005460 CHEBI:17015 riboflavin biolink:ChemicalSubstance mondo D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide. http://purl.obolibrary.org/obo/CHEBI_17015 riboflavin|Riboflavin|Lactoflavin|vitamin G|7,8-Dimethyl-10-ribitylisoalloxazine|riboflavin|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol|6,7-dimethyl-9-D-ribitylisoalloxazine|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)benzo[g]pteridine-2,4(3H,10H)-dione|riboflavine|RIBOFLAVINE|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine|Vitamin B2|vitamin B2|E101|riboflavina|riboflavinum|5-deoxy-5-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol UBERON:0005469 right thymus lobe biolink:AnatomicalEntity mondo A thymus lobe that is in the right side of a thymus. http://purl.obolibrary.org/obo/UBERON_0005469 right thymic lobe|right lobe of thymus NCBITaxon:41012 Tineidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41012 clothes-moths|clothes moths|fungus moths NCBITaxon:41011 Tineoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41011 NCBITaxon:41013 Tinea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41013 UBERON:0005451 segment of manus biolink:AnatomicalEntity mondo A segment of autopod that is part of a manus. http://purl.obolibrary.org/obo/UBERON_0005451 subdivision of hand|regio manus|hand subdivision|segment of hand|hand region HGNC:3668 FGF12 biolink:OntologyClass mondo http://identifiers.org/hgnc/3668 HGNC:3666 FGF10 biolink:OntologyClass mondo http://identifiers.org/hgnc/3666 UBERON:0005457 left thymus lobe biolink:AnatomicalEntity mondo A thymus lobe that is in the left side of a thymus. http://purl.obolibrary.org/obo/UBERON_0005457 left lobe of thymus|left thymic lobe UBERON:0005456 jugular foramen biolink:AnatomicalEntity mondo The jugular foramen is a large aperture in the base of the skull. It is located behind the carotid canal and is formed in front by the petrous portion of the temporal, and behind by the occipital; it is generally larger on the right than on the left side http://purl.obolibrary.org/obo/UBERON_0005456 Posterior lacerate foramen|foramen jugulare HGNC:3663 FGD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3663 HGNC:3662 FGB biolink:OntologyClass mondo http://identifiers.org/hgnc/3662 HGNC:3661 FGA biolink:OntologyClass mondo http://identifiers.org/hgnc/3661 HP:0001156 Brachydactyly biolink:PhenotypicFeature mondo UMLS:C0221357|SNOMEDCT_US:43476002|MSH:D059327 Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. http://purl.obolibrary.org/obo/HP_0001156 Brachydactyly syndrome|Short fingers or toes HGNC:3671 FGF14 biolink:OntologyClass mondo http://identifiers.org/hgnc/3671 HP:0001155 Abnormality of the hand biolink:PhenotypicFeature mondo MSH:D006226|UMLS:C0018564|SNOMEDCT_US:299033004 An abnormality affecting one or both hands. http://purl.obolibrary.org/obo/HP_0001155 Abnormal hands|Hand deformities|Hand anomalies|Abnormality of the hand hposlim_core HP:0001159 Syndactyly biolink:PhenotypicFeature mondo Fyler:4174|MSH:D013576|SNOMEDCT_US:373413006|UMLS:C0039075 Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". http://purl.obolibrary.org/obo/HP_0001159 Webbed fingers or toes HGNC:18505 RNF43 biolink:OntologyClass mondo http://identifiers.org/hgnc/18505 UBERON:0005448 greater omentum biolink:AnatomicalEntity mondo The greater omentum (also the great omentum, omentum majus, gastrocolic omentum, epiploön, or, especially in animals, caul) is a large fold of peritoneum that hangs down from the stomach, and extends from the stomach to the posterior abdominal wall after associating with the transverse colon. http://purl.obolibrary.org/obo/UBERON_0005448 epiploic|epiploön|omentum majus|gastrocolic omentum|caul|epiploon|epiplooen|omentectomy|great omentum HGNC:3677 FGF20 biolink:OntologyClass mondo http://identifiers.org/hgnc/3677 HGNC:1014 BCR biolink:OntologyClass mondo http://identifiers.org/hgnc/1014 HGNC:18501 RPS4Y2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18501 UBERON:0005446 foramen rotundum biolink:AnatomicalEntity mondo The foramen rotundum is a circular hole in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa. http://purl.obolibrary.org/obo/UBERON_0005446 round foramen|foramen rotundum of the skull|foramen rotundum ossis sphenoidalis HGNC:1012 OPN1SW biolink:OntologyClass mondo http://identifiers.org/hgnc/1012 UBERON:0005445 segment of pes biolink:AnatomicalEntity mondo A segment of autopod that is part of a pes. http://purl.obolibrary.org/obo/UBERON_0005445 segment of foot|subdivision of foot|regio pedis|foot subdivision|foot region HP:0001153 Septate vagina biolink:PhenotypicFeature mondo UMLS:C0266411|SNOMEDCT_US:47054003 The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. http://purl.obolibrary.org/obo/HP_0001153 Double vagina HGNC:3673 FGF17 biolink:OntologyClass mondo http://identifiers.org/hgnc/3673 HGNC:3672 FGF16 biolink:OntologyClass mondo http://identifiers.org/hgnc/3672 MONDO:0008639 vascular helix of umbilical cord biolink:Disease mondo OMIM:192300 http://identifiers.org/omim/192300 http://purl.obolibrary.org/obo/MONDO_0008639 vascular helix of umbilical cord MONDO:0008638 varicose disease biolink:Disease mondo ICD10:I83.90|COHD:312349|ICD9:456.8|NCIT:C35114|ICD9:454.9|DOID:799|OMIM:192200|MESH:D014648|SCTID:128060009|UMLS:C0042345 A vascular disease characterized by the presence of enlarged and tortuous veins. MESH:D014648|UMLS:C0042345|DOID:799|SNOMEDCT:128060009|http://identifiers.org/omim/192200|NCIT:C35114 http://purl.obolibrary.org/obo/MONDO_0008638 varicose veins|varices|varicose veins|varix|Venous ectasia|varicose vein|Venous varices|varices MONDO:0008637 bifid uvula biolink:Disease mondo ICD10:Q35.7|OMIM:192100|Orphanet:99771|SCTID:18910001 Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate. ORPHA:99771|http://identifiers.org/omim/192100|SNOMEDCT:18910001 http://purl.obolibrary.org/obo/MONDO_0008637 bifidity of the uvula|uvula, bifid|uvula, cleft|uvular cleft ordo_morphological_anomaly MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome biolink:Disease mondo SCTID:722431007|MESH:C566010|OMIM:192050|Orphanet:3411 Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. http://identifiers.org/omim/192050|ORPHA:3411|SNOMEDCT:722431007|MESH:C566010 http://purl.obolibrary.org/obo/MONDO_0008636 uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis|Double uterus and obstructed hemivagina syndrome|Wunderlich syndrome|obstructed hemivagina and ipsilateral renal anomaly|Herlyn-Werner syndrome|OHVIRA syndrome ordo_malformation_syndrome MONDO:0008635 uterine anomalies biolink:Disease mondo OMIM:192000|MESH:C562565 http://identifiers.org/omim/192000|MESH:C562565 http://purl.obolibrary.org/obo/MONDO_0008635 uterine anomalies MONDO:0008634 urticaria, familial localized heat biolink:Disease mondo OMIM:191950|UMLS:C1860551|MESH:C566011 UMLS:C1860551|http://identifiers.org/omim/191950|MESH:C566011 http://purl.obolibrary.org/obo/MONDO_0008634 urticaria, familial localized heat MONDO:0008633 Muckle-Wells syndrome biolink:Disease mondo GARD:0008472|ICD10:E85.0|MedDRA:10064569|NCIT:C119054|ICD9:708.8|OMIM:191900|SCTID:402417009|UMLS:C0268390|UMLS:C1304205|DOID:0050854|Orphanet:575 Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). MEDDRA:10064569|ORPHA:575|SNOMEDCT:402417009|DOID:0050854|NCIT:C119054|http://identifiers.org/omim/191900|UMLS:C0268390|UMLS:C1304205 http://purl.obolibrary.org/obo/MONDO_0008633 urticaria, deafness and amyloidosis|urticaria-deafness-amyloidosis syndrome|MUCKLE-Wells syndrome; MWS|Cryopyrin-associated periodic syndrome 2|Muckle Wells syndrome|Uda syndrome|neutrophilic urticaria|Muckle-Wells syndrome|MWS ordo_disease MONDO:0008632 urticaria, aquagenic biolink:Disease mondo MESH:C562481|OMIM:191850|SCTID:89870006|ICD9:708.8|GARD:0010901|UMLS:C0263334 Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success. SNOMEDCT:89870006|UMLS:C0263334|MESH:C562481|http://identifiers.org/omim/191850 http://purl.obolibrary.org/obo/MONDO_0008632 urticaria, aquagenic|aquagenic urticaria gard_rare MONDO:0008631 obsolete renal agenesis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008631 MONDO:0008630 urinary bladder, atony of biolink:Disease mondo OMIM:191800 http://identifiers.org/omim/191800 http://purl.obolibrary.org/obo/MONDO_0008630 atony of urinary bladder|urinary bladder, atony of HGNC:3681 FGF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3681 HGNC:1020 BCS1L biolink:OntologyClass mondo http://identifiers.org/hgnc/1020 HGNC:3680 FGF23 biolink:OntologyClass mondo http://identifiers.org/hgnc/3680 HGNC:3689 FGFR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3689 HGNC:3688 FGFR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3688 HGNC:3687 FGF9 biolink:OntologyClass mondo http://identifiers.org/hgnc/3687 MONDO:0021605 benign eyelid neoplasm biolink:Disease mondo UMLS:C0339107|SCTID:231824001|NCIT:C4354 A non-metastasizing neoplasm that arises from the upper or lower eyelid. NCIT:C4354|SNOMEDCT:231824001|UMLS:C0339107 http://purl.obolibrary.org/obo/MONDO_0021605 benign tumor of eyelid|benign tumor of the eyelid|benign neoplasm of eyelid|eyelid benign neoplasm|benign neoplasm of the eyelid|benign eyelid tumor|benign eyelid neoplasm HGNC:3686 FGF8 biolink:OntologyClass mondo http://identifiers.org/hgnc/3686 MONDO:0021607 eyelid seborrheic keratosis biolink:Disease mondo UMLS:C0339109|SCTID:231826004|NCIT:C4356 A seborrheic keratosis that involves the eyelid. NCIT:C4356|SNOMEDCT:231826004|UMLS:C0339109 http://purl.obolibrary.org/obo/MONDO_0021607 eyelid basal cell papilloma|eyelid seborrheic keratosis|seborrheic keratosis of eyelid|seborrheic keratosis of the eyelid|basal cell papilloma of eyelid|basal cell papilloma of the eyelid HGNC:3683 FGF5 biolink:OntologyClass mondo http://identifiers.org/hgnc/3683 MONDO:0008649 venular insufficiency, systemic biolink:Disease mondo OMIM:192700|MESH:C566004|UMLS:C1860465 UMLS:C1860465|http://identifiers.org/omim/192700|MESH:C566004 http://purl.obolibrary.org/obo/MONDO_0008649 venular insufficiency, systemic MONDO:0008648 ventricular tachycardia, familial biolink:Disease mondo GARD:0002263|SCTID:233906007|OMIM:192605 An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome. http://identifiers.org/omim/192605|SNOMEDCT:233906007 http://purl.obolibrary.org/obo/MONDO_0008648 familial ventricular tachycardia|ventricular tachycardia, familial polymorphic|ventricular tachycardia, familial|hereditary ventricular tachycardia MONDO:0008647 hypertrophic cardiomyopathy 1 biolink:Disease mondo DOID:0110307|OMIM:192600 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. DOID:0110307|http://identifiers.org/omim/192600 http://purl.obolibrary.org/obo/MONDO_0008647 asymmetric septal Hypertrophy|cardiomyopathy, familial hypertrophic, type 1|cardiomyopathy, familial hypertrophic 1|CMH1|MYH7 hypertrophic cardiomyopathy|Cmh|hypertrophic subaortic stenosis, idiopathic|cardiomyopathy, familial hypertrophic, 1|hypertrophic cardiomyopathy caused by mutation in MYH7|hypertrophic cardiomyopathy type 1|ventricular Hypertrophy, hereditary|cardiomyopathy, familial hypertrophic, 1; CMH1 MONDO:0008646 long QT syndrome 1 biolink:Disease mondo MedDRA:10039211|Orphanet:101016|DOID:0110644|NCIT:C85049|ICD10:I45.8|SCTID:20852007|GARD:0003284|OMIM:192500|UMLS:C0035828 Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia). DOID:0110644|NCIT:C85049|http://identifiers.org/omim/192500|ORPHA:101016|UMLS:C0035828|MEDDRA:10039211|MESH:D029597|SNOMEDCT:20852007 http://purl.obolibrary.org/obo/MONDO_0008646 Romano-Ward long QT syndrome|long QT syndrome type 1|long QT syndrome 1/2, digenic|long QT syndrome 1; LQT1|ventricular fibrillation with prolonged QT interval|long QT syndrome 1, acquired, susceptibility to|Ward-Romano syndrome|LQT1|Romano-Ward syndrome|long QT syndrome 1 prototype_pattern|ordo_clinical_subtype|clingen MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome biolink:Disease mondo ICD10:Q87.8|SCTID:719823007|Orphanet:3201|MESH:C537497|OMIM:192445|GARD:0005472 This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. http://identifiers.org/omim/192445|ORPHA:3201|MESH:C537497|SNOMEDCT:719823007 http://purl.obolibrary.org/obo/MONDO_0008645 Stoll-Kieny-Dott syndrome|ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence|ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence|ventricular extrasystoles perodactyly Robin sequence ordo_malformation_syndrome MONDO:0008644 velocardiofacial syndrome biolink:Disease mondo ICD9:758.32|DOID:12583|UMLS:CN205308|OMIM:192430|ICD10:Q93.81 A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. UMLS:CN205308|DOID:12583|http://identifiers.org/omim/192430 http://purl.obolibrary.org/obo/MONDO_0008644 chromosome 22Q11.2 deletion syndrome|Shprintzen Vcf syndrome|22q11 deletion syndrome|deletion 22q11.2 syndrome|Shprintzen syndrome|Vcf syndrome|VCF-velocardiofacial syndrome|velocardiofacial syndrome MONDO:0008643 veins, pattern of, on anterior thorax biolink:Disease mondo OMIM:192400 http://identifiers.org/omim/192400 http://purl.obolibrary.org/obo/MONDO_0008643 veins, pattern of, on anterior thorax MONDO:0008642 VACTERL/vater association biolink:Disease mondo UMLS:C1735591|UMLS:CN206312|DOID:14679|ICD9:759.89|ICD10:Q87.2|MedDRA:10053665|SCTID:27742002|NCIT:C99105|OMIM:192350|GARD:0005443|UMLS:C0220708|Orphanet:887|MedDRA:10066022 VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. DOID:14679|UMLS:C1735591|ORPHA:887|UMLS:CN206312|http://identifiers.org/omim/192350|UMLS:C0220708|MEDDRA:10066022|SNOMEDCT:27742002|MEDDRA:10053665|MESH:C536495|NCIT:C99105|MESH:C536534 http://purl.obolibrary.org/obo/MONDO_0008642 VACTERL association|VATER/VACTERL association|vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome|VATER syndrome|VATER association ordo_malformation_syndrome MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations biolink:Disease mondo SCTID:721141004|OMIM:192315|GARD:0001217|GARD:0010535|MESH:C566007|SCTID:720854004|UMLS:C1860518|Orphanet:247691|GARD:0002558 Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. http://identifiers.org/omim/192315|SNOMEDCT:720854004|ORPHA:247691|SNOMEDCT:721141004|MESH:C566007|UMLS:C1860518 http://purl.obolibrary.org/obo/MONDO_0008641 grand Kaine fulling syndrome|ADRVCL|hereditary vascular retinopathy|retinal vasculopathy and cerebral leukoencephalopathy|RVCL|vasculopathy, retinal, with cerebral leukodystrophy; RVCL|RVCL-S|cerebroretinal vasculopathy, hereditary|grand-Kaine-fulling syndrome|autosomal dominant retinal vasculopathy with cerebral leukodystrophy|cerebroretinal vasculopathy|CRV|retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena|retinal vasculopathy with cerebral leukodystrophy|HVR|vasculopathy, retinal, with cerebral leukodystrophy ordo_disease|gard_rare MONDO:0008640 vasculitis, lymphocytic, nodular biolink:Disease mondo GARD:0006941|OMIM:192310|UMLS:C1860519|MESH:C566008 Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis. http://identifiers.org/omim/192310|MESH:C566008|UMLS:C1860519 http://purl.obolibrary.org/obo/MONDO_0008640 vasculitis lymphocytic, nodular|vasculitis, lymphocytic, nodular|lymphocytic vasculitis gard_rare HGNC:3693 FGFRL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3693 HGNC:3690 FGFR3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3690 HGNC:1037 CFB biolink:OntologyClass mondo http://identifiers.org/hgnc/1037 HGNC:3694 FGG biolink:OntologyClass mondo http://identifiers.org/hgnc/3694 HGNC:1033 BDNF biolink:OntologyClass mondo http://identifiers.org/hgnc/1033 MONDO:0008619 ulna metaphyseal dysplasia syndrome biolink:Disease mondo Orphanet:1837|UMLS:C1860615|ICD10:Q78.5|SCTID:715242008|OMIM:191420|GARD:0004740|MESH:C536935 Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. ORPHA:1837|UMLS:C1860615|SNOMEDCT:715242008|MESH:C536935|http://identifiers.org/omim/191420 http://purl.obolibrary.org/obo/MONDO_0008619 Rosenberg Lohr syndrome|metaphyseal chondroplasia Rosenberg type|Rosenberg-Lohr syndrome|metaphyseal chondrodysplasia, Rosenberg type|hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna|ulna metaphyseal dysplasia syndrome gard_rare|ordo_disease MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type biolink:Disease mondo UMLS:C1860616|MESH:C537349|OMIM:191400|Orphanet:2634|SCTID:715472000|ICD10:Q78.8|GARD:0003555 Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. SNOMEDCT:715472000|ORPHA:2634|MESH:C537349|UMLS:C1860616|http://identifiers.org/omim/191400 http://purl.obolibrary.org/obo/MONDO_0008618 hypoplasia of ulna and fibula|mesomelic dysplasia Reinhardt-Pfeiffer type|ulna and fibula, hypoplasia OF|mesomelic dwarfism of hypoplastic ulna and fibula type|Reinhardt-Pfeiffer syndrome|Reinhardt-Pfeiffer mesomelic dysplasia ordo_malformation_syndrome MONDO:0008617 inflammatory bowel disease 11 biolink:Disease mondo OMIM:191390|UMLS:C2674051|MESH:C567154|DOID:0110894 An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22. MESH:C567154|UMLS:C2674051|DOID:0110894|http://identifiers.org/omim/191390 http://purl.obolibrary.org/obo/MONDO_0008617 inflammatory bowel disease 11; IBD11|IBD11|inflammatory bowel disease type 11|inflammatory bowel disease 11 MONDO:0008616 twinning due to superfetation biolink:Disease mondo MESH:C566018|OMIM:191250 MESH:C566018|http://identifiers.org/omim/191250 http://purl.obolibrary.org/obo/MONDO_0008616 superfetation twinning|twinning due to superfetation MONDO:0008615 tune deafness biolink:Disease mondo MESH:C566019|UMLS:C1860646|SCTID:55647004|ICD9:389.8|OMIM:191200 MESH:C566019|UMLS:C1860646|http://identifiers.org/omim/191200|SNOMEDCT:55647004 http://purl.obolibrary.org/obo/MONDO_0008615 Dysmelodia|tone deafness|tune deafness|amusia, congenital MONDO:0008614 ST3 biolink:Disease mondo OMIM:191181|UMLS:C1860658 UMLS:C1860658|http://identifiers.org/omim/191181 http://purl.obolibrary.org/obo/MONDO_0008614 ST3|tumor-suppressor Gene, Hela cell type|suppressor of tumorigenicity 3|suppressor of tumorigenicity 3; ST3|cervical carcinoma, tumor-suppressor Gene involved 1N MONDO:0008613 Tuftsin deficiency biolink:Disease mondo UMLS:C0398741|ICD9:279.03|MESH:C562872|SCTID:234584007|OMIM:191150 SNOMEDCT:234584007|UMLS:C0398741|http://identifiers.org/omim/191150|MESH:C562872 http://purl.obolibrary.org/obo/MONDO_0008613 Tuftsin deficiency MONDO:0008612 tuberous sclerosis 1 biolink:Disease mondo NCIT:C75122|DOID:0080324|OMIM:191100|GARD:0005380 Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). DOID:0080324|NCIT:C75122|http://identifiers.org/omim/191100 http://purl.obolibrary.org/obo/MONDO_0008612 tuberous sclerosis 1|tuberous sclerosis Complex|tuberous sclerosis caused by mutation in TSC1|TSC1|tuberous sclerosis type 1|tuberous sclerosis, type 1|tuberose sclerosis|tuberous sclerosis 1; TSC1|TSC1 tuberous sclerosis gard_rare MONDO:0008611 humerus trochlea aplasia biolink:Disease mondo UMLS:C1860773|OMIM:191000|GARD:0002750|MESH:C566022|SCTID:732928005|ICD10:Q74.0|Orphanet:3383 Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. SNOMEDCT:732928005|MESH:C566022|UMLS:C1860773|http://identifiers.org/omim/191000|ORPHA:3383 http://purl.obolibrary.org/obo/MONDO_0008611 trochlea of the HUMERUS, aplasia OF|aplasia of trochlea of the humerus|trochlea of the humerus aplasia of gard_rare|ordo_malformation_syndrome MONDO:0008610 blue color blindness biolink:Disease mondo UMLS:C0155017|ICD10:H53.5|OMIM:190900|SCTID:51886007|ICD10:H53.55|ICD9:368.53|Orphanet:88629|DOID:11661 Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision. UMLS:C0155017|SNOMEDCT:51886007|DOID:11661|ORPHA:88629|http://identifiers.org/omim/190900 http://purl.obolibrary.org/obo/MONDO_0008610 blue colorblindness|congenital tritanopia|colorblindness, tritanopic|tritanopia|tritan defect|tritan colour blindness|colorblindness, tritan|blue colour blindness ordo_disease UBERON:0005497 non-neural ectoderm biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005497 epithelial ectoderm|ventral ectoderm|epidermal ectoderm|surface ectoderm|non neural ectoderm HGNC:1041 BFSP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1041 UBERON:0005496 neural tube lateral wall biolink:AnatomicalEntity mondo Portion of tissue on the side of the lumen of the neural tube. http://purl.obolibrary.org/obo/UBERON_0005496 lateral wall neural tube HGNC:1040 BFSP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1040 UBERON:0005492 hyaloid vessel biolink:AnatomicalEntity mondo A blood vessel that is associated with the lens. In mammals, this is transient and normally nourishes the retina, immature lens and primary vitreous of the developing eye. http://purl.obolibrary.org/obo/UBERON_0005492 hyaloid vasculature|hyaloid vessels|hyaloid capillary system|hyaloid vascular system|hyaloid blood vessels UBERON:0005491 glossopharyngeal neural crest biolink:AnatomicalEntity mondo Cranial neural crest which gives rise to the glossopharyngeal ganglion. http://purl.obolibrary.org/obo/UBERON_0005491 CHEBI:32600 tetracene biolink:ChemicalSubstance mondo An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/CHEBI_32600 benz[b]anthracene|tetracene|2,3-benzanthracene|naphthacene HP:0025153 Transient biolink:PhenotypicFeature mondo Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. http://purl.obolibrary.org/obo/HP_0025153 UBERON:0005499 rhombomere 1 biolink:AnatomicalEntity mondo Hindbrain segment or neuromere 1. http://purl.obolibrary.org/obo/UBERON_0005499 r1 UBERON:0005498 primitive heart tube biolink:AnatomicalEntity mondo Multi-tissue structure that arises from the heart rudiment and will become the heart tube. http://purl.obolibrary.org/obo/UBERON_0005498 early primitive heart tube|primitive heart tube HGNC:1044 BGN biolink:OntologyClass mondo http://identifiers.org/hgnc/1044 MONDO:0008629 urolithiasis, uric acid, autosomal dominant biolink:Disease mondo OMIM:191700 http://identifiers.org/omim/191700 http://purl.obolibrary.org/obo/MONDO_0008629 urolithiasis, uric acid, autosomal dominant|nephrolithiasis, uric acid, autosomal dominant MONDO:0008628 ureterocele (disease) biolink:Disease mondo DOID:4022|COHD:192440|HP:0000070|SCTID:12818004|MedDRA:10056433|MESH:D014518|OMIM:191650|NCIT:C123159|EFO:1001227|ICD9:593.89 A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. MESH:D014518|SNOMEDCT:12818004|DOID:4022|http://identifiers.org/omim/191650|NCIT:C123159 http://purl.obolibrary.org/obo/MONDO_0008628 ureterocele MONDO:0008627 ureter cancer biolink:Disease mondo MESH:D014516|NCIT:C7543|OMIM:191600|UMLS:C0153619|ICD10:C66|SCTID:363458004|DOID:11819|ICD9:189.2 A malignant neoplasm involving the ureter MESH:D014516|NCIT:C7543|SNOMEDCT:363458004|DOID:11819|http://identifiers.org/omim/191600|UMLS:C0153619 http://purl.obolibrary.org/obo/MONDO_0008627 ureter, cancer OF|malignant ureteral neoplasm|malignant tumor of ureter|cancer of ureter|malignant tumor of the ureter|ureter cancer|malignant ureter neoplasm|malignant tumour of ureter|malignant neoplasm of ureter|malignant ureter tumor|malignant ureteral tumor|malignant neoplasm of the ureter MONDO:0008626 ureter, bifid or double biolink:Disease mondo UMLS:C1860586|MESH:C566012|OMIM:191550 MESH:C566012|UMLS:C1860586|http://identifiers.org/omim/191550 http://purl.obolibrary.org/obo/MONDO_0008626 ureter, bifid or double MONDO:0008625 urate-binding globulin, decrease 1N biolink:Disease mondo UMLS:C1860587|MESH:C566013|OMIM:191530 MESH:C566013|UMLS:C1860587|http://identifiers.org/omim/191530 http://purl.obolibrary.org/obo/MONDO_0008625 urate-binding globulin, decrease type 1N|urate-binding globulin, decrease IN MONDO:0008624 Upington disease biolink:Disease mondo OMIM:191520|SCTID:719041000|UMLS:C1860596|MESH:C536472|ICD10:M91.8|GARD:0005421|Orphanet:3408 Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. UMLS:C1860596|MESH:C536472|http://identifiers.org/omim/191520|ORPHA:3408|SNOMEDCT:719041000 http://purl.obolibrary.org/obo/MONDO_0008624 familial dyschondroplasia|Perthes-like hip disease, enchondromata, and Ecchondromata|Upington disease|hip dysplasia-enchondromata-ecchondroma syndrome gard_rare|ordo_malformation_syndrome MONDO:0008623 Undritz anomaly biolink:Disease mondo UMLS:C1860604|MESH:C566014|OMIM:191500 UMLS:C1860604|http://identifiers.org/omim/191500|MESH:C566014 http://purl.obolibrary.org/obo/MONDO_0008623 Undritz anomaly|hypersegmentation of nuclei of polymorphonuclear leukocytes MONDO:0008622 tricho-retino-dento-digital syndrome biolink:Disease mondo Orphanet:1264|OMIM:191482|MESH:C536576|SCTID:719910004|ICD10:Q82.4|UMLS:C1860605|GARD:0000938 Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. ORPHA:1264|UMLS:C1860605|MESH:C536576|SNOMEDCT:719910004|http://identifiers.org/omim/191482 http://purl.obolibrary.org/obo/MONDO_0008622 Bork syndrome|uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome|Bork Stender Schmidt syndrome|uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly ordo_malformation_syndrome MONDO:0008621 uncombable hair syndrome biolink:Disease mondo GARD:0005404|MESH:C536939|DC:0000734|UMLS:C0432347|Orphanet:1410|ICD10:Q84.1|SCTID:254230001 Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. ORPHA:1410|SNOMEDCT:254230001|UMLS:C0432347|MESH:C536939 http://purl.obolibrary.org/obo/MONDO_0008621 unmanageable hair syndrome|uncombable hair syndrome|spun glass hair|pili trianguli et canaliculi|cheveux incoiffables gard_rare|ordo_disease MONDO:0008620 upper limb mesomelic dysplasia biolink:Disease mondo ICD10:Q78.8|OMIM:191440|Orphanet:2497|MESH:C538069|GARD:0002408 This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity. UMLS:C1860614|http://identifiers.org/omim/191440|MESH:C538069|ORPHA:2497 http://purl.obolibrary.org/obo/MONDO_0008620 upper limb mesomelic dysplasia|Fryns-Hofkens-Fabry syndrome|ulnar hypoplasia|ulna hypoplasia|Fryns Hofkens Fabry syndrome ordo_malformation_syndrome UBERON:0005486 venous dural sinus biolink:AnatomicalEntity mondo A venous channel found between layers of dura mater in the brain. Receives blood from internal and external veins of the brain, receive cerebrospinal fluid (CSF) from the subarachnoid space, and ultimately empty into the internal jugular vein. http://purl.obolibrary.org/obo/UBERON_0005486 dural sinus|cranial dural venous sinus|venous dural sinus|venous dural|dural venous sinus|dural vein|s. durae matris HGNC:1052 BIN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1052 GO:0043604 amide biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/GO_0043604 UBERON:0005484 tricuspid valve leaflet biolink:AnatomicalEntity mondo A valve leaflet that is part of a tricuspid valve. http://purl.obolibrary.org/obo/UBERON_0005484 tricuspid valve leaflet|tricuspid valve leaflets|leaflet of tricuspid valve|tricuspid valvular leaflet UBERON:0005483 thymus lobe biolink:AnatomicalEntity mondo Either of the two lateral lobes that constitute the thymus. http://purl.obolibrary.org/obo/UBERON_0005483 lateral lobe of thymus|lobe of thymus GO:0043603 cellular amide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0043603 amide metabolism HGNC:1058 BLM biolink:OntologyClass mondo http://identifiers.org/hgnc/1058 HGNC:1059 BLMH biolink:OntologyClass mondo http://identifiers.org/hgnc/1059 HP:0001197 Abnormality of prenatal development or birth biolink:PhenotypicFeature mondo UMLS:C4025797 An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth HP:0025142 Constitutional symptom biolink:PhenotypicFeature mondo A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/HP_0025142 HGNC:1057 BLK biolink:OntologyClass mondo http://identifiers.org/hgnc/1057 CHEBI:78017 food propellant biolink:ChemicalSubstance mondo A propellant that is used to expel foods from an aerosol container. http://purl.obolibrary.org/obo/CHEBI_78017 food propellants UBERON:0005487 vitelline vein biolink:AnatomicalEntity mondo the paired veins that carry blood from the yolk sac back to the embryo http://purl.obolibrary.org/obo/UBERON_0005487 vein of omphalomesenteric system|embryonic vitelline vein|vascular vitelline network|vena vitellina|omphalomesenteric vein|vitelline veins GO:0006665 sphingolipid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/GO_0006665 sphingolipid metabolism GO:0004000 adenosine deaminase activity biolink:OntologyClass mondo Catalysis of the reaction: adenosine + H2O = inosine + NH3. http://purl.obolibrary.org/obo/GO_0004000 adenosine deaminase reaction|adenosine aminohydrolase activity GO:0006664 glycolipid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. http://purl.obolibrary.org/obo/GO_0006664 glycolipid metabolism GO:0006661 phosphatidylinositol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/GO_0006661 phosphatidylinositol synthesis|phosphatidylinositol formation|phosphatidylinositol biosynthesis|phosphoinositide biosynthetic process|phosphoinositide biosynthesis|PtdIns biosynthetic process|phosphatidylinositol anabolism|PtdIns biosynthesis GO:0006662 glycerol ether metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. http://purl.obolibrary.org/obo/GO_0006662 glycerol ether metabolism CHEBI:30089 acetate biolink:ChemicalSubstance mondo A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid. http://purl.obolibrary.org/obo/CHEBI_30089 acetate|CH3-COO(-)|Ethanoat|Azetat|MeCO2 anion|ethanoate|ACETATE ION|acetic acid, ion(1-) NCBITaxon:7496 Pterygota organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7496 Pterygota|winged insects NCBITaxon:327045 Orthoretrovirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_327045 CHEBI:30099 diazynediium biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_30099 diazynediium|[HNNH](2+)|HNNH(2+) GO:0006643 membrane lipid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/GO_0006643 membrane lipid metabolism GO:0006644 phospholipid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/GO_0006644 phospholipid metabolism GO:0006650 glycerophospholipid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/GO_0006650 phosphoglyceride metabolic process|phosphoglyceride metabolism|glycerophospholipid metabolism|alpha-glycerophosphate pathway NCBITaxon:173087 Human papillomavirus types organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_173087 GO:0006624 vacuolar protein processing biolink:OntologyClass mondo Protein processing that takes place in the vacuole. Most protein processing in the vacuole represents proteolytic cleavage of precursors to form active enzymes. http://purl.obolibrary.org/obo/GO_0006624 vacuolar protein maturation|vacuolar proteolysis UBERON:0005431 anterior spinal artery biolink:AnatomicalEntity mondo A blood vessel that supplies the anterior portion of the spinal cord. It arises from branches of the vertebral arteries and is supplied by the anterior segmental medullary arteries, including the artery of Adamkiewicz, and courses along the anterior aspect of the spinal cord. http://purl.obolibrary.org/obo/UBERON_0005431 arteria spinalis anterior|ventral spinal artery|ventral artery of the spinal cord|anterior spinal arteries|anterior medial spinal artery NCBITaxon:90010 unclassified Enterovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enteroviruses HGNC:3602 FBLN5 biolink:OntologyClass mondo http://identifiers.org/hgnc/3602 HGNC:3600 FBLN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3600 UBERON:0005437 conus medullaris biolink:AnatomicalEntity mondo The conus medullaris is the terminal end of the spinal cord. It occurs near lumbar vertebral levels 1 (L1) and 2 (L2). After the spinal cord tapers out, the spinal nerves continue as dangling nerve roots called cauda equina. This terminal nerve root tail is referred to as the filum terminale. The upper end of the conus medullaris is usually not well defined. http://purl.obolibrary.org/obo/UBERON_0005437 medullary cone|termination of the spinal cord UBERON:0005434 cervical region biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005434 cervical region|subdivision of neck|region of neck|neck subdivision GO:0006629 lipid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. http://purl.obolibrary.org/obo/GO_0006629 lipid metabolism UBERON:0005432 aortic sac biolink:AnatomicalEntity mondo The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates http://purl.obolibrary.org/obo/UBERON_0005432 saccus aorticus HGNC:3606 FBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3606 UBERON:0005419 pectoral appendage bud biolink:AnatomicalEntity mondo A limb bud that develops into a forelimb or pectoral fin. http://purl.obolibrary.org/obo/UBERON_0005419 pectoral fin buds|pectoral fin bud|forelimb - pectoral fin bud HGNC:3604 FBN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3604 GO:0006633 fatty acid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. http://purl.obolibrary.org/obo/GO_0006633 fatty acid synthesis|fatty acid formation|fatty acid biosynthesis|fatty acid anabolism UBERON:0005418 hindlimb bud biolink:AnatomicalEntity mondo A limb bud that develops into a hindlimb. http://purl.obolibrary.org/obo/UBERON_0005418 hind limb bud|leg bud|posterior limb bud|limb bud - hindlimb HGNC:3603 FBN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3603 GO:0006631 fatty acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. http://purl.obolibrary.org/obo/GO_0006631 fatty acid metabolism CHEBI:29067 carboxylic acid anion biolink:ChemicalSubstance mondo The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated. http://purl.obolibrary.org/obo/CHEBI_29067 carboxylic acid anions|a carboxylate|carboxylic anions UBERON:0005420 pelvic appendage bud biolink:AnatomicalEntity mondo A limb bud that develops into a hindlimb or pelvic fin. http://purl.obolibrary.org/obo/UBERON_0005420 hindlimb/pelvic fin bud|pelvic fin buds|pelvic fin bud NCBITaxon:716546 leotiomyceta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_716546 NCBITaxon:716545 saccharomyceta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_716545 UBERON:0005428 vagal neural crest biolink:AnatomicalEntity mondo Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. http://purl.obolibrary.org/obo/UBERON_0005428 enteric neural crest|VNC|post-otic neural crest UBERON:0005427 corneal primordium biolink:AnatomicalEntity mondo Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. http://purl.obolibrary.org/obo/UBERON_0005427 UBERON:0005426 lens vesicle biolink:AnatomicalEntity mondo Portion of tissue that gives rise to the lens. http://purl.obolibrary.org/obo/UBERON_0005426 immature lens|presumptive lens|hollow lens vesicle|lens mass|solid lens vesicle UBERON:0005425 presumptive neural retina biolink:AnatomicalEntity mondo Portion of tissue that is the inner layer of the optic cup and will become the neural retina. http://purl.obolibrary.org/obo/UBERON_0005425 future NR|future retinal neural layer|presumptive retina|future neural layer|future neural epithelium|presumptive retinas|inner layer optic cup|optic cup inner layer|future neural retina UBERON:0005424 presumptive retinal pigmented epithelium biolink:AnatomicalEntity mondo Portion of tissue that is the outer layer of the optic cup and will become the retinal pigmented epithelium. http://purl.obolibrary.org/obo/UBERON_0005424 presumptive pigmented epithelium|future pigmented layer|future RPE|future retinal pigmented epithelium|presumptive pigmented epithelia|optic cup outer layer|outer layer optic cup|future pigmented retinal epithelium|future PRE UBERON:0005423 developing anatomical structure biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005423 developmental tissue|developmental structure|developing structure UBERON:0005422 pelvic appendage apical ectodermal ridge biolink:AnatomicalEntity mondo An apical ectodermal ridge that is part of a pelvic appendage bud. http://purl.obolibrary.org/obo/UBERON_0005422 apical ectodermal ridge pelvic fin bud|apical ectodermal ridge hind limb|leg AER|apical ectodermal ridge hindlimb|AER hindlimb|lower lmb bud apical ectodermal ridge UBERON:0005421 pectoral appendage apical ectodermal ridge biolink:AnatomicalEntity mondo An apical ectodermal ridge that is part of a pectoral appendage bud. http://purl.obolibrary.org/obo/UBERON_0005421 wing apical ectodermal ridge|AER forelimb|apical ectodermal ridge pectoral fin|wing AER|apical ectodermal ridge pectoral fin bud|upper limb bud apical ectodermal ridge|apical fold pectoral fin|apical ectodermal ridge forelimb|aer pectoral fin HGNC:3619 FCGR3A biolink:OntologyClass mondo http://identifiers.org/hgnc/3619 HGNC:3618 FCGR2B biolink:OntologyClass mondo http://identifiers.org/hgnc/3618 GO:0006601 creatine biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle. http://purl.obolibrary.org/obo/GO_0006601 creatine formation|creatine biosynthesis|creatine anabolism|creatine synthesis HGNC:3616 FCGR2A biolink:OntologyClass mondo http://identifiers.org/hgnc/3616 UBERON:0005409 alimentary part of gastrointestinal system biolink:AnatomicalEntity mondo The part of the digestive system that excludes the hepatobiliary system. http://purl.obolibrary.org/obo/UBERON_0005409 GI tract|gastroenterological system|gastrointestinal (GI) tract|gastro-intestinal system|alimentary system|gastrointestinal tract|gastrointestinal system|alimentary tract UBERON:0005408 circumventricular organ biolink:AnatomicalEntity mondo Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ|circumventricular organ of neuraxis|CVO UBERON:0005407 sublingual ganglion biolink:AnatomicalEntity mondo the small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland http://purl.obolibrary.org/obo/UBERON_0005407 GO:0006600 creatine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. http://purl.obolibrary.org/obo/GO_0006600 creatine metabolism PATO:0001154 elongated biolink:OntologyClass mondo A quality inhering in a bearer by virtue of the bearer's length being notably higher than its width. http://purl.obolibrary.org/obo/PATO_0001154 HP:0001103 Abnormal macular morphology biolink:PhenotypicFeature mondo UMLS:C0730362|SNOMEDCT_US:312999006 A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. http://purl.obolibrary.org/obo/HP_0001103 Macula abnormality|Macular abnormality|Abnormality of the macula hposlim_core UBERON:0005417 forelimb bud biolink:AnatomicalEntity mondo A limb bud that develops into a forelimb. http://purl.obolibrary.org/obo/UBERON_0005417 limb bud - forelimb|anterior limb bud|arm bud|upper limb bud|wing bud HGNC:3622 FKTN biolink:OntologyClass mondo http://identifiers.org/hgnc/3622 UBERON:0005412 optic fissure biolink:AnatomicalEntity mondo Groove that is in the developing ventral optic cup and through which blood vessels pass to the enclosed mesenchyme[ZFA]. a ventral fissure in the developing optic cup through which blood vessels pass to the enclosed mesenchyme[Free online medical dictionary]. http://purl.obolibrary.org/obo/UBERON_0005412 choroid fissure - optic fissure|ventral choroidal fissure|choroid fissure|optic stalk fissure|optic fissures UBERON:0005411 bony otic capsule biolink:AnatomicalEntity mondo the cartilage or bony capsule surrounding the inner ear mechanism http://purl.obolibrary.org/obo/UBERON_0005411 otic capsule bone CHEBI:17087 ketone biolink:ChemicalSubstance mondo A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). http://purl.obolibrary.org/obo/CHEBI_17087 ketones|a ketone|R-CO-R'|Keton|ketones|cetone|Ketone UBERON:0005410 cartilaginous otic capsule biolink:AnatomicalEntity mondo A otic capsule endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0005410 auditory capsule|otic capsule cartilage element HGNC:3625 FCN3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3625 HP:0001114 Xanthelasma biolink:PhenotypicFeature mondo SNOMEDCT_US:6400008|MSH:D014973|UMLS:C4280602|UMLS:C0302314|UMLS:C4280601|SNOMEDCT_US:75594004|UMLS:C0155210|SNOMEDCT_US:63103006 The presence of xanthomata in the skin of the eyelid. http://purl.obolibrary.org/obo/HP_0001114 Xanthelasma of eyelid|Xanthoma|Fatty deposits on eyelids|Xanthelasma of periocular region|Fatty deposits in skin around the eyes|Xanthoma of eyelid|Xanthoma of periocular region|Xanthelasma palpebrarum UBERON:0005406 perirenal fat biolink:AnatomicalEntity mondo The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat pad|periphrenic fascia|capsula adiposa renis|fatty capsule of kidney|perirenal fat capsule|perirenal fascia|perinephric fat|adipose capsule of kidney|perirenal fascia HGNC:3631 FDPS biolink:OntologyClass mondo http://identifiers.org/hgnc/3631 UBERON:0005401 cerebral hemisphere gray matter biolink:AnatomicalEntity mondo A gray matter that is part of a cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0005401 cerebral gray matter|cerebral hemisphere grey matter|cerebral grey matter UBERON:0005400 telencephalon arachnoid mater biolink:AnatomicalEntity mondo An arachnoid mater that is part of a telencephalon. http://purl.obolibrary.org/obo/UBERON_0005400 telencephalon arachnoid matter MONDO:0021494 benign neoplasm of parotid gland biolink:Disease mondo NCIT:C4770|ICD10:D11.0|SCTID:92279000|UMLS:C0496857 A benign neoplasm that involves the parotid gland. SNOMEDCT:92279000|NCIT:C4770|UMLS:C0496857 http://purl.obolibrary.org/obo/MONDO_0021494 benign tumor of the parotid|benign parotid tumor|benign tumor of parotid|benign parotid neoplasm|benign parotid gland neoplasm|parotid gland benign neoplasm|benign neoplasm of the parotid gland|benign neoplasm of the parotid|benign parotid gland tumor|benign tumor of the parotid gland|benign tumor of parotid gland|benign neoplasm of parotid MONDO:0021495 benign neoplasm of sublingual gland biolink:Disease mondo SCTID:92413008|UMLS:C0347208|NCIT:C4601 A benign neoplasm that involves the sublingual gland. SNOMEDCT:92413008|UMLS:C0347208|NCIT:C4601 http://purl.obolibrary.org/obo/MONDO_0021495 sublingual gland benign neoplasm|benign tumor of sublingual gland|benign tumor of the sublingual gland|benign neoplasm of the sublingual gland|benign sublingual gland tumor|benign sublingual gland neoplasm MONDO:0021496 benign neoplasm of lip biolink:Disease mondo SCTID:92185002|ICD10:D10.0|NCIT:C3591|UMLS:C0153932|ICD9:210.0 A benign neoplasm that involves the lip. SNOMEDCT:92185002|NCIT:C3591|UMLS:C0153932 http://purl.obolibrary.org/obo/MONDO_0021496 benign Lip neoplasm|lip neoplasm, benign|lip benign neoplasm|benign neoplasm of the Lip|benign tumor of the Lip|benign Lip tumor|benign tumor of Lip GO:0016192 vesicle-mediated transport biolink:OntologyClass mondo A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. http://purl.obolibrary.org/obo/GO_0016192 vesicle transport|vesicular transport|protein sorting along secretory pathway|vesicle trafficking|nonselective vesicle transport MONDO:0021497 benign neoplasm of cerebrum biolink:Disease mondo NCIT:C8548|SCTID:275269004|UMLS:C0686378 A benign neoplasm that involves the telencephalon. UMLS:C0686378|NCIT:C8548|SNOMEDCT:275269004 http://purl.obolibrary.org/obo/MONDO_0021497 benign cerebral neoplasm|benign tumor of cerebral hemispheres|benign cerebral tumor|benign tumor of cerebrum|benign tumor of the cerebral hemispheres|benign tumor of the cerebrum|benign neoplasm of cerebral hemispheres|benign neoplasm of the cerebrum|benign neoplasm of the cerebral hemispheres|telencephalon benign neoplasm|benign cerebral hemispheric neoplasm|benign cerebral hemispheric tumor MONDO:0021498 benign neoplasm of placenta biolink:Disease mondo ICD9:219.8|NCIT:C8545|SCTID:92297008|UMLS:C0686274 A benign neoplasm that involves the placenta. UMLS:C0686274|NCIT:C8545|SNOMEDCT:92297008 http://purl.obolibrary.org/obo/MONDO_0021498 benign placenta neoplasm|benign tumor of placenta|benign tumor of the placenta|placenta benign neoplasm|benign placenta tumor|benign neoplasm of the placenta|placental neoplasms, benign|benign placental tumor|benign placental neoplasm MONDO:0021499 benign neoplasm of cerebellum biolink:Disease mondo SCTID:92050000|NCIT:C4955 A benign neoplasm that involves the cerebellum. SNOMEDCT:92050000|NCIT:C4955 http://purl.obolibrary.org/obo/MONDO_0021499 benign cerebellar neoplasms|cerebellar neoplasms, benign|benign tumor of cerebellum|benign tumor of the cerebellum|benign neoplasm of the cerebellum|benign cerebellar neoplasm|benign cerebellar tumor|cerebellum benign neoplasm|neoplasms, cerebellar, benign|neoplasms, benign, cerebellar PATO:0001576 increased pressure biolink:OntologyClass mondo A pressure which is relatively high. http://purl.obolibrary.org/obo/PATO_0001576 high pressure MONDO:0021490 benign neoplasm of sebaceous gland biolink:Disease mondo SCTID:92337009|UMLS:C0684358|NCIT:C8525 A benign neoplasm that involves the sebaceous gland. NCIT:C8525|UMLS:C0684358|SNOMEDCT:92337009 http://purl.obolibrary.org/obo/MONDO_0021490 benign sebaceous neoplasm|benign sebaceous gland neoplasm|benign neoplasm of the sebaceous gland|benign tumor of the sebaceous gland|benign sebaceous gland tumor|benign tumor of sebaceous gland|benign sebaceous tumor|benign sebaceous skin tumor|sebaceous gland benign neoplasm|benign sebaceous skin neoplasm MONDO:0021491 benign neoplasm of gum biolink:Disease mondo SCTID:92126004|ICD9:210.4|UMLS:C0347201|NCIT:C4598 A benign neoplasm that involves the gingiva. UMLS:C0347201|NCIT:C4598|SNOMEDCT:92126004 http://purl.obolibrary.org/obo/MONDO_0021491 gingiva benign neoplasm|benign neoplasm of the gum|benign tumor of the gum|benign gum tumor|benign gum neoplasm|benign tumor of gum|benign neoplasm of the gingiva|benign neoplasm of gingiva|benign gingival tumor|benign tumor of the gingiva|benign tumor of gingiva|benign gingival neoplasm MONDO:0021492 benign neoplasm of major salivary gland biolink:Disease mondo NCIT:C4771|SCTID:92205005|ICD9:210.2|UMLS:C0496858 A benign neoplasm that involves the major salivary gland. NCIT:C4771|UMLS:C0496858|SNOMEDCT:92205005 http://purl.obolibrary.org/obo/MONDO_0021492 benign tumor of Major salivary gland|benign tumor of the Major salivary gland|benign neoplasm of the Major salivary gland|major salivary gland benign neoplasm|benign Major salivary gland tumor|benign Major salivary gland neoplasm MONDO:0021493 benign neoplasm of minor salivary gland biolink:Disease mondo SCTID:92220004|UMLS:C0345615|ICD9:210.4|NCIT:C4411 A benign neoplasm that involves the minor salivary gland. SNOMEDCT:92220004|NCIT:C4411|UMLS:C0345615 http://purl.obolibrary.org/obo/MONDO_0021493 minor salivary gland benign neoplasm|benign tumor of minor salivary gland|benign tumor of the minor salivary gland|benign neoplasm of the minor salivary gland|benign minor salivary gland tumor|benign minor salivary gland neoplasm MONDO:0033483 erythrocytosis, familial, 5 biolink:Disease mondo DOID:0080290|OMIM:617907|UMLS:CN873435 Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene. UMLS:CN873435|http://identifiers.org/omim/617907|DOID:0080290 http://purl.obolibrary.org/obo/MONDO_0033483 ECYT5|erythrocytosis, familial, 5; ECYT5|EPO familial polycythemia|familial erythrocytosis 5|familial polycythemia caused by mutation in EPO MONDO:0033482 spinocerebellar ataxia 47 biolink:Disease mondo UMLS:CN244564|OMIM:617931 http://identifiers.org/omim/617931|UMLS:CN244564 http://purl.obolibrary.org/obo/MONDO_0033482 SCA47|spinocerebellar ataxia 47; SCA47 MONDO:0033481 spinocerebellar ataxia 46 biolink:Disease mondo UMLS:CN623018|DOID:0080288|OMIM:617770 http://identifiers.org/omim/617770|UMLS:CN623018|DOID:0080288 http://purl.obolibrary.org/obo/MONDO_0033481 spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy|spinocerebellar ataxia 46; SCA46|SCA46 MONDO:0033480 spinocerebellar ataxia 45 biolink:Disease mondo UMLS:CN623017|DOID:0080287|OMIM:617769 http://identifiers.org/omim/617769|UMLS:CN623017|DOID:0080287 http://purl.obolibrary.org/obo/MONDO_0033480 spinocerebellar ataxia 45; SCA45|SCA45 PATO:0001575 decreased pressure biolink:OntologyClass mondo A pressure which is relatively low. http://purl.obolibrary.org/obo/PATO_0001575 low pressure MONDO:0033486 leukodystrophy, hypomyelinating, 14 biolink:Disease mondo OMIM:617899|DOID:0080296|UMLS:CN845004 UMLS:CN845004|DOID:0080296|http://identifiers.org/omim/617899 http://purl.obolibrary.org/obo/MONDO_0033486 HLD14|leukodystrophy, hypomyelinating, 14; HLD14|hypomyelinating leukodystrophy 14 MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly biolink:Disease mondo UMLS:CN842245|DOID:0080295|OMIM:617895 DOID:0080295|UMLS:CN842245|http://identifiers.org/omim/617895 http://purl.obolibrary.org/obo/MONDO_0033485 SRTD19|short-rib thoracic dysplasia 19 with or without polydactyly; SRTD19 MONDO:0021483 benign neoplasm of frontal sinus biolink:Disease mondo NCIT:C4420|SCTID:92115005|UMLS:C0345674|ICD9:212.0 A benign neoplasm that involves the frontal sinus. UMLS:C0345674|NCIT:C4420|SNOMEDCT:92115005 http://purl.obolibrary.org/obo/MONDO_0021483 benign frontal sinus neoplasm|frontal sinus benign neoplasm|benign neoplasm of the frontal sinus|benign frontal sinus tumor|benign tumor of the frontal sinus|benign tumor of frontal sinus MONDO:0021484 benign neoplasm of maxillary sinus biolink:Disease mondo SCTID:92211008|UMLS:C0345666|NCIT:C4414|ICD9:212.0 A benign neoplasm that involves the maxillary sinus. UMLS:C0345666|NCIT:C4414|SNOMEDCT:92211008 http://purl.obolibrary.org/obo/MONDO_0021484 benign maxillary sinus tumor|benign tumor of maxillary antrum|benign tumor of the maxillary sinus|benign tumor of the maxillary antrum|benign maxillary antrum neoplasm|benign tumor of maxillary sinus|benign neoplasm of maxillary antrum|benign maxillary antrum tumor|benign neoplasm of the maxillary antrum|maxillary sinus benign neoplasm|benign maxillary sinus neoplasm|benign maxillofacial sinus neoplasm|benign neoplasm of the maxillofacial sinus|benign neoplasm of maxillofacial sinus|benign maxillofacial sinus tumor|benign tumor of the maxillofacial sinus|benign neoplasm of the maxillary sinus|benign tumor of maxillofacial sinus MONDO:0021485 benign neoplasm of iris biolink:Disease mondo NCIT:C4555|UMLS:C0346374|SCTID:189151003|ICD9:224.0 A benign neoplasm that involves the iris. SNOMEDCT:189151003|NCIT:C4555|UMLS:C0346374 http://purl.obolibrary.org/obo/MONDO_0021485 benign neoplasm of the iris|benign iris tumor|benign iris neoplasm|iris benign neoplasm|benign tumor of iris|benign tumor of the iris MONDO:0021486 benign neoplasm of ciliary body biolink:Disease mondo SCTID:92060009|NCIT:C4779|ICD9:224.0|UMLS:C0496894 A benign neoplasm that involves the ciliary body. UMLS:C0496894|SNOMEDCT:92060009|NCIT:C4779 http://purl.obolibrary.org/obo/MONDO_0021486 ciliary body benign neoplasm|benign ciliary body neoplasm|benign tumor of ciliary body|benign tumor of the ciliary body|benign neoplasm of the ciliary body|benign ciliary body tumor MONDO:0021487 benign neoplasm of choroid biolink:Disease mondo ICD9:224.6|SCTID:92059004|UMLS:C0154028|NCIT:C3625 A benign neoplasm that involves the optic choroid. NCIT:C3625|SNOMEDCT:92059004|UMLS:C0154028 http://purl.obolibrary.org/obo/MONDO_0021487 optic choroid benign neoplasm|benign choroid neoplasm|benign neoplasm of the choroid|benign choroid tumor|benign tumor of the choroid|benign tumor of choroid MONDO:0021488 benign neoplasm of lacrimal gland biolink:Disease mondo NCIT:C3621|SCTID:92169007|ICD9:224.2|UMLS:C0154024 A benign neoplasm that involves the lacrimal gland. NCIT:C3621|SNOMEDCT:92169007|UMLS:C0154024 http://purl.obolibrary.org/obo/MONDO_0021488 benign lacrimal gland tumor|benign neoplasm of the lacrimal gland|benign lacrimal gland neoplasm|lacrimal gland benign neoplasm|benign tumor of lacrimal gland|benign tumor of the lacrimal gland MONDO:0021489 benign neoplasm of sweat gland biolink:Disease mondo SCTID:92422009|UMLS:C0684354|NCIT:C4879 A benign neoplasm that involves the sweat gland. NCIT:C4879|UMLS:C0684354|SNOMEDCT:92422009 http://purl.obolibrary.org/obo/MONDO_0021489 benign sweat gland neoplasm|benign neoplasm of the sweat gland|benign tumor of the sweat gland|sweat gland neoplasm, benign|benign sweat gland tumor|sweat gland benign neoplasm|benign tumor of sweat gland MONDO:0021480 benign neoplasm of soft palate biolink:Disease mondo UMLS:C0345557|NCIT:C4404|ICD9:210.4|SCTID:92386006 A benign neoplasm that involves the soft palate. SNOMEDCT:92386006|NCIT:C4404|UMLS:C0345557 http://purl.obolibrary.org/obo/MONDO_0021480 benign soft palate neoplasm|benign neoplasm of the soft palate|benign tumor of the soft palate|benign soft palate tumor|benign tumor of soft palate|soft palate benign neoplasm MONDO:0021481 benign neoplasm of submandibular gland biolink:Disease mondo UMLS:C0685988|NCIT:C4891|SCTID:92415001 A benign neoplasm that involves the submandibular gland. SNOMEDCT:92415001|UMLS:C0685988|NCIT:C4891 http://purl.obolibrary.org/obo/MONDO_0021481 submandibular gland benign neoplasm|benign submandibular gland neoplasm|benign neoplasm of the submandibular gland|benign tumor of the submandibular gland|benign submandibular gland tumor|benign tumor of submandibular gland MONDO:0021482 benign neoplasm of middle ear biolink:Disease mondo UMLS:C0347213|NCIT:C4602|SCTID:92218002|ICD9:212.0 A benign neoplasm that involves the middle ear. UMLS:C0347213|NCIT:C4602|SNOMEDCT:92218002 http://purl.obolibrary.org/obo/MONDO_0021482 middle ear benign neoplasm|benign tumor of middle Ear|benign tumor of the middle Ear|benign middle Ear tumor|benign neoplasm of the middle Ear|benign middle Ear neoplasm MONDO:0033493 fibromatosis, gingival, 5 biolink:Disease mondo OMIM:617626|DOID:0080280 http://identifiers.org/omim/617626|DOID:0080280 http://purl.obolibrary.org/obo/MONDO_0033493 fibromatosis, gingival, 5; GINGF5|GGF5|GINGF5|gingival fibromatosis 5|fibromatosis, gingival, hereditary, 5 MONDO:0033492 Coffin-Siris syndrome 6 biolink:Disease mondo DOID:0080297|OMIM:617808|UMLS:CN696018 http://identifiers.org/omim/617808|UMLS:CN696018|DOID:0080297 http://purl.obolibrary.org/obo/MONDO_0033492 COFFIN-SIRIS syndrome 6; CSS6|CSS6 MONDO:0021472 benign neoplasm of scrotum biolink:Disease mondo UMLS:C0154011|ICD9:222.4|NCIT:C3615|ICD10:D29.4|SCTID:92336000 A benign neoplasm that involves the scrotum. NCIT:C3615|SNOMEDCT:92336000|UMLS:C0154011 http://purl.obolibrary.org/obo/MONDO_0021472 benign tumor of the scrotum|scrotum benign neoplasm|benign tumor of scrotum|benign scrotal neoplasm|benign scrotal tumor|benign neoplasm of the scrotum MONDO:0021473 benign neoplasm of epididymis biolink:Disease mondo UMLS:C0154010|SCTID:92088003|ICD9:222.3|NCIT:C3614 A benign neoplasm that involves the epididymis. NCIT:C3614|SNOMEDCT:92088003|UMLS:C0154010 http://purl.obolibrary.org/obo/MONDO_0021473 epididymis benign neoplasm|benign epididymal neoplasm|benign tumor of epididymis|benign tumor of the epididymis|benign epididymal tumor|benign neoplasm of the epididymis MONDO:0021474 benign neoplasm of ear biolink:Disease mondo NCIT:C8417|UMLS:C0347354|SCTID:255181009 A benign neoplasm that involves the ear. NCIT:C8417|SNOMEDCT:255181009|UMLS:C0347354 http://purl.obolibrary.org/obo/MONDO_0021474 aural neoplasms, benign|benign Ear neoplasm|benign neoplasm of the Ear|benign tumor of the Ear|benign Ear tumor|benign tumor of Ear|ear benign neoplasm MONDO:0021475 benign neoplasm of nasal cavity biolink:Disease mondo ICD9:212.0|SCTID:92241005|UMLS:C0347215|NCIT:C4603 A benign neoplasm that involves the nasal cavity. NCIT:C4603|SNOMEDCT:92241005|UMLS:C0347215 http://purl.obolibrary.org/obo/MONDO_0021475 benign nasal cavity neoplasm|nasal cavity benign neoplasm|benign tumor of nasal cavity|benign tumor of the nasal cavity|benign neoplasm of the nasal cavity|benign nasal cavity tumor MONDO:0021476 benign neoplasm of tongue biolink:Disease mondo SCTID:92443005|ICD10:D10.1|NCIT:C3592|ICD9:210.1|UMLS:C0153933 A benign neoplasm that involves the tongue. UMLS:C0153933|NCIT:C3592|SNOMEDCT:92443005 http://purl.obolibrary.org/obo/MONDO_0021476 benign tongue neoplasm|benign tumor of tongue|benign tumor of the tongue|benign neoplasm of the tongue|benign tongue tumor|tongue neoplasm, benign|tongue benign neoplasm MONDO:0021477 benign neoplasm of sphenoidal sinus biolink:Disease mondo ICD9:212.0|NCIT:C4422|SCTID:92404006|UMLS:C0345678 A non-metastasizing neoplasm that arises from the sphenoid sinus. NCIT:C4422|SNOMEDCT:92404006|UMLS:C0345678 http://purl.obolibrary.org/obo/MONDO_0021477 benign tumor of sphenoid sinus|benign tumor of the sphenoid sinus|benign neoplasm of sphenoid sinus|benign neoplasm of the sphenoid sinus|benign sphenoid sinus tumor|benign sphenoidal sinus neoplasm|benign tumor of sphenoidal sinus|sphenoidal sinus benign neoplasm|benign tumor of the sphenoidal sinus|benign neoplasm of the sphenoidal sinus|benign sphenoidal sinus tumor|benign sphenoid sinus neoplasm MONDO:0021478 benign neoplasm of nasopharynx biolink:Disease mondo ICD10:D10.6|NCIT:C3595|ICD9:210.7|SCTID:188800003|UMLS:C0153938 A benign neoplasm that involves the nasopharynx. UMLS:C0153938|NCIT:C3595|SNOMEDCT:188800003 http://purl.obolibrary.org/obo/MONDO_0021478 nasopharyngeal neoplasm, benign|benign nasopharyngeal neoplasm|nasopharynx benign neoplasm|benign neoplasm of the nasopharynx|benign nasopharyngeal tumor|benign tumor of the nasopharynx|benign tumor of nasopharynx MONDO:0021479 benign neoplasm of oropharynx biolink:Disease mondo ICD9:210.6|UMLS:C0347229|SCTID:92259008|NCIT:C4604 A benign neoplasm that involves the oropharynx. UMLS:C0347229|NCIT:C4604|SNOMEDCT:92259008 http://purl.obolibrary.org/obo/MONDO_0021479 oropharynx benign neoplasm|oropharyngeal neoplasm benign|benign oropharyngeal neoplasm|benign tumor of oropharynx|benign tumor of the oropharynx|benign neoplasm of the oropharynx|benign oropharyngeal tumor MONDO:0008499 short stature-wormian bones-dextrocardia syndrome biolink:Disease mondo GARD:0004856|UMLS:C1861448|OMIM:185120|Orphanet:2863|SCTID:763631006|ICD10:Q87.1|MESH:C566105 Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia. http://identifiers.org/omim/185120|SNOMEDCT:763631006|MESH:C566105|UMLS:C1861448|ORPHA:2863 http://purl.obolibrary.org/obo/MONDO_0008499 Stratton-Parker syndrome|short stature wormian bones dextrocardia|Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly|STRATTON-PARKER syndrome|Stratton Parker syndrome ordo_malformation_syndrome MONDO:0008498 strabismus, susceptibility to biolink:Disease mondo UMLS:C1861449|OMIM:185100 http://identifiers.org/omim/185100|UMLS:C1861449 http://purl.obolibrary.org/obo/MONDO_0008498 strabismus, susceptibility to|strabismus, susceptibility to, 1 predisposition MONDO:0008497 Stormorken syndrome biolink:Disease mondo GARD:0005188|UMLS:C1861451|ICD9:759.89|MESH:C566108|OMIM:185070|ICD10:D69.8|Orphanet:3204|SCTID:711407000|DOID:0060354 Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. DOID:0060354|http://identifiers.org/omim/185070|ORPHA:3204|SNOMEDCT:711407000|MESH:C566108|UMLS:C1861451 http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome; STRMK|Thrombocytopathy-asplenia-miosis syndrome|Stormorken-Sjaastad-Langslet syndrome|york Platelet syndrome|Thrombocytopathy asplenia miosis|STRMK|thrombocytopathy, asplenia and miosis|Stormorken syndrome|Thrombocytopathy, asplenia, and miosis ordo_disease MONDO:0008496 storm syndrome biolink:Disease mondo GARD:0005035|OMIM:185069|MESH:C566109|UMLS:C1861452 http://identifiers.org/omim/185069|MESH:C566109|UMLS:C1861452 http://purl.obolibrary.org/obo/MONDO_0008496 storm syndrome|pleiotropic, autosomal dominant disorder affecting connective tissue gard_rare MONDO:0021470 benign neoplasm of pancreas biolink:Disease mondo UMLS:C0347284|ICD10:D13.6|NCIT:C4612|SCTID:92264007 A benign neoplasm that involves the pancreas. SNOMEDCT:92264007|UMLS:C0347284|NCIT:C4612 http://purl.obolibrary.org/obo/MONDO_0021470 pancreatic tumor, benign|pancreas benign neoplasm|pancreatic neoplasm, benign|benign pancreatic neoplasm NOS|benign tumor of pancreas|benign tumor of the pancreas|benign pancreatic neoplasm|benign pancreas tumor|pancreas neoplasm, benign|benign neoplasm of the pancreas|pancreas tumor, benign|benign pancreas neoplasm|benign pancreatic tumor MONDO:0021471 benign neoplasm of endometrium biolink:Disease mondo SCTID:92086004|NCIT:C4894|UMLS:C0686239 A benign neoplasm that involves the endometrium. UMLS:C0686239|SNOMEDCT:92086004|NCIT:C4894 http://purl.obolibrary.org/obo/MONDO_0021471 benign tumor of the endometrium|benign endometrium neoplasm|benign endometrium tumor|benign tumor of endometrium|benign endometrial neoplasm|endometrium benign neoplasm|benign endometrial tumor|benign neoplasm of the endometrium MONDO:0008495 platelet storage pool deficiency biolink:Disease mondo ICD10:D69.1|OMIM:185050|MESH:D010981|GARD:0005034|DOID:2223|EFO:1001112|Orphanet:734|SCTID:234474009 Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. MESH:D010981|http://identifiers.org/omim/185050|ORPHA:734|SNOMEDCT:234474009|DOID:2223 http://purl.obolibrary.org/obo/MONDO_0008495 platelet dense granule deficiency|combined alpha-delta platelet storage pool deficiency|dense body defect|platelet storage pool diseases|storage pool platelet disease|alpha delta granule deficiency|alpha dense granule deficiency|platelet storage pool defect gard_rare|ordo_disease MONDO:0008494 hereditary cryohydrocytosis with normal stomatin biolink:Disease mondo Orphanet:398088|GARD:0010184|ICD10:D58.8|OMIM:185020|UMLS:C1861453|MESH:C535827 Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. MESH:C535827|http://identifiers.org/omim/185020|UMLS:C1861453|ORPHA:398088 http://purl.obolibrary.org/obo/MONDO_0008494 pseudohyperkalemia Cardiff|cryohydrocytosis|stomatocytosis, cold-sensitive|ChC|cryohydrocytosis; ChC ordo_disease MONDO:0008493 overhydrated hereditary stomatocytosis biolink:Disease mondo OMIM:185000|Orphanet:3203|SCTID:722125003|UMLS:C1861455|ICD10:D58.8|GARD:0004183|MESH:C566111 Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. http://identifiers.org/omim/185000|ORPHA:3203|SNOMEDCT:722125003|MESH:C566111|UMLS:C1861455 http://purl.obolibrary.org/obo/MONDO_0008493 stomatocytosis I|OHST|OHS|stomatocytosis 1|Potassium sodium disorder of erythrocyte|Potassium-sodium disorder of erythrocyte|overhydrated hereditary stomatocytosis|OVERHYDRATED hereditary stomatocytosis; OHS|OVERHYDRATED hereditary stomatocytosis; OHST ordo_disease MONDO:0008492 stiff skin syndrome biolink:Disease mondo GARD:0005025|SCTID:765187004|OMIM:184900|UMLS:C1861456|NCIT:C118636|ICD10:L98.8|Orphanet:2833|MESH:C566112 Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy. SNOMEDCT:765187004|NCIT:C118636|MESH:C566112|UMLS:C1861456|ORPHA:2833|http://identifiers.org/omim/184900 http://purl.obolibrary.org/obo/MONDO_0008492 stiff skin syndrome|STIFF skin syndrome; SSKS|SSKS gard_rare|ordo_disease MONDO:0008491 stiff-person syndrome biolink:Disease mondo EFO:0007498|MESH:D016750|OMIM:184850|ICD9:333.91|DOID:13366|UMLS:C0085292|MedDRA:10042044|ICD10:G25.82|GARD:0005023|ICD10:G25.8|SCTID:5217008|COHD:379008|Orphanet:3198|NCIT:C85170 Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. MEDDRA:10042044|ORPHA:3198|SNOMEDCT:5217008|MESH:D016750|UMLS:C0085292|http://identifiers.org/omim/184850|DOID:13366|NCIT:C85170 http://purl.obolibrary.org/obo/MONDO_0008491 STIFF-PERSON syndrome; SPS|stiff man syndrome|Stiff person syndrome and related disorders|stiff-person syndrome|Stiff Person syndrome|Stiff man syndrome|Stiff-trunk syndrome|SPS|Stiff-man syndrome|progressive encephalomyelitis with rigidity|SMS|Morsch Woltman syndrome|Moersch-Woltman syndrome|Stiff-Man syndrome ordo_disease MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant biolink:Disease mondo GARD:0005021|GARD:0004351|ICD10:Q77.7|SCTID:699313003|MESH:C535776|OMIM:184840|DOID:4258|Orphanet:166100|Orphanet:3450|ICD10:Q87.5|MESH:C537494|OMIM:277610 A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. http://identifiers.org/omim/277610|ORPHA:166100|ORPHA:3450|UMLS:C1861481|http://identifiers.org/omim/184840|MESH:C537494|DOID:4258|MESH:C535776|SNOMEDCT:699313003 http://purl.obolibrary.org/obo/MONDO_0008490 Stickler syndrome nonocular type|Weissenbacher-Zweymuller syndrome|heterozygous otospondylomegaepiphyseal dysplasia|Pierre Robin syndrome with fetal chondrodysplasia|COL11A2 Stickler syndrome|Stickler syndrome, type III, formerly|Pierre Robin malformation|Piere-Robin syndrome|OSMEDA|WZS|Stickler syndrome, non-ocular type|Weissenbacher- Zweymuller syndrome|Stickler syndrome caused by mutation in COL11A2|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly|Weissenbacher-Zweymuller syndrome; WZS|Stickler syndrome, type 3|OSMED, heterozygous|STICKLER syndrome, type III; STL3|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type|STL3|otospondylomegaepiphyseal dysplasia, autosomal dominant|Pierre Robin sequence-fetal chondrodysplasia syndrome|Pierre Robin syndrome-fetal chondrodysplasia syndrome|Weissenbacher-Zweymüller syndrome|STICKLER syndrome, type III|otospondylomegaepiphyseal dysplasia, autosomal dominant; OSMEDA|Stickler syndrome, Nonocular type|heterozygous OSMED gard_rare|ordo_malformation_syndrome MONDO:0021469 benign neoplasm of anus biolink:Disease mondo SCTID:91978004|NCIT:C4611|UMLS:C0347276 A benign neoplasm that involves the anus. UMLS:C0347276|NCIT:C4611|SNOMEDCT:91978004 http://purl.obolibrary.org/obo/MONDO_0021469 benign anal tumor|anus benign neoplasm|benign tumor of anus|benign tumor of the anus|benign neoplasm of the anus|benign anal neoplasm MONDO:0021461 benign neoplasm of hypopharynx biolink:Disease mondo SCTID:92139000|ICD10:D10.7|NCIT:C3596|ICD9:210.8|UMLS:C0153939 A benign neoplasm that involves the hypopharynx. UMLS:C0153939|NCIT:C3596|SNOMEDCT:92139000 http://purl.obolibrary.org/obo/MONDO_0021461 benign tumor of hypopharynx|hypopharyngeal neoplasm, benign|hypopharynx benign neoplasm|benign hypopharyngeal neoplasm|benign hypopharyngeal tumor|benign neoplasm of the hypopharynx|benign tumor of the hypopharynx MONDO:0021462 benign neoplasm of rectum biolink:Disease mondo SCTID:92318000|NCIT:C4774|UMLS:C0496867|ICD10:D12.8 A benign neoplasm that involves the rectum. NCIT:C4774|UMLS:C0496867|SNOMEDCT:92318000 http://purl.obolibrary.org/obo/MONDO_0021462 rectal tumors, benign|benign rectal neoplasm|benign rectal tumors|benign rectal tumor|benign tumor of rectum|rectum benign neoplasm|benign tumor of the rectum|benign rectal neoplasms|benign neoplasm of the rectum|rectal neoplasms, benign MONDO:0021463 benign neoplasm of parathyroid gland biolink:Disease mondo UMLS:C0154041|NCIT:C3630|ICD10:D35.1|ICD9:227.1|SCTID:92272009 A benign neoplasm that involves the parathyroid gland. NCIT:C3630|SNOMEDCT:92272009|UMLS:C0154041 http://purl.obolibrary.org/obo/MONDO_0021463 parathyroid gland benign neoplasm|parathyroid tumor benign|benign neoplasm of the parathyroid gland|benign parathyroid neoplasm|benign parathyroid gland neoplasm|benign neoplasm of the parathyroid|benign parathyroid gland tumor|benign tumor of the parathyroid gland|benign tumor of parathyroid gland|benign neoplasm of parathyroid|benign parathyroid tumor|benign tumor of the parathyroid|benign tumor of parathyroid MONDO:0021464 benign neoplasm of cecum biolink:Disease mondo UMLS:C0496859|SCTID:92040001|NCIT:C4772|ICD10:D12.0 A benign neoplasm that involves the caecum. NCIT:C4772|UMLS:C0496859|SNOMEDCT:92040001 http://purl.obolibrary.org/obo/MONDO_0021464 benign cecum tumor|benign tumor of the cecum|benign tumor of cecum|benign cecum neoplasm|caecum benign neoplasm|benign neoplasm of the cecum MONDO:0021465 benign neoplasm of appendix biolink:Disease mondo SCTID:91981009|NCIT:C4773|ICD10:D12.1|UMLS:C0496860 A benign neoplasm that involves the vermiform appendix. NCIT:C4773|UMLS:C0496860|SNOMEDCT:91981009 http://purl.obolibrary.org/obo/MONDO_0021465 benign tumor of appendix|benign tumor of the appendix|benign appendix tumor|benign neoplasm of the appendix|benign appendix neoplasm|vermiform appendix benign neoplasm MONDO:0021466 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021466 MONDO:0021467 benign neoplasm of renal pelvis biolink:Disease mondo EFO:1000118|UMLS:C0154015|NCIT:C3616|SCTID:92319008|ICD9:223.1 A benign neoplasm that involves the renal pelvis. NCIT:C3616|SNOMEDCT:92319008|UMLS:C0154015 http://purl.obolibrary.org/obo/MONDO_0021467 renal pelvis benign neoplasm|benign kidney pelvis neoplasm|benign tumor of renal pelvis|benign tumor of the renal pelvis|benign neoplasm of the renal pelvis|benign renal pelvis tumor|benign renal pelvis neoplasm MONDO:0021468 benign neoplasm of adrenal medulla biolink:Disease mondo SCTID:91968002|NCIT:C4895|UMLS:C0686512 A benign neoplasm that involves the adrenal medulla. NCIT:C4895|SNOMEDCT:91968002|UMLS:C0686512 http://purl.obolibrary.org/obo/MONDO_0021468 benign neoplasm of the adrenal medulla|benign tumor of the adrenal medulla|benign adrenal medulla tumor|benign tumor of adrenal medulla|adrenal medulla benign neoplasm|benign adrenal medulla neoplasm GO:0100002 negative regulation of protein kinase activity by protein phosphorylation biolink:OntologyClass mondo Any protein phosphorylation process that negatively regulates protein kinase activity. http://purl.obolibrary.org/obo/GO_0100002 MONDO:0021460 benign neoplasm of salivary gland biolink:Disease mondo NCIT:C4600|SCTID:255154009|UMLS:C0347206 A benign neoplasm that involves the saliva-secreting gland. SNOMEDCT:255154009|UMLS:C0347206|NCIT:C4600 http://purl.obolibrary.org/obo/MONDO_0021460 benign salivary gland neoplasm|saliva-secreting gland benign neoplasm|benign tumor of salivary gland|benign tumor of the salivary gland|benign salivary gland tumor|benign neoplasm of the salivary gland|salivary gland neoplasm, benign MONDO:0021458 benign neoplasm of penis biolink:Disease mondo UMLS:C0149627|ICD9:222.1|ICD10:D29.0|SCTID:92286008|NCIT:C3489 A benign neoplasm that involves the penis. UMLS:C0149627|NCIT:C3489|SNOMEDCT:92286008 http://purl.obolibrary.org/obo/MONDO_0021458 benign penile neoplasm|benign penile tumor|penis benign neoplasm|benign neoplasm of the penis|benign tumor of the penis|benign tumor of penis MONDO:0021459 benign neoplasm of esophagus biolink:Disease mondo SCTID:92091003|ICD9:211.0|NCIT:C3598|ICD10:D13.0|UMLS:C0153942 A benign neoplasm that involves the esophagus. SNOMEDCT:92091003|NCIT:C3598|UMLS:C0153942 http://purl.obolibrary.org/obo/MONDO_0021459 benign neoplasm of the esophagus|benign tumor of the esophagus|benign esophagus tumor|benign tumor of esophagus|esophagus benign neoplasm|benign esophageal neoplasm|benign esophageal tumor|benign esophagus neoplasm GO:0016175 superoxide-generating NAD(P)H oxidase activity biolink:OntologyClass mondo Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-. http://purl.obolibrary.org/obo/GO_0016175 cytochrome B-245 NCBITaxon:31953 Bifidobacteriaceae organism taxon mondo PMID:19244447|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_31953 PATO:0001545 inflexible biolink:OntologyClass mondo A physical quality inhering in a bearer by virtue of the bearer's inability of being turned, bowed, or twisted without breaking. http://purl.obolibrary.org/obo/PATO_0001545 stiff|stiffness GO:0004175 endopeptidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. http://purl.obolibrary.org/obo/GO_0004175 proteinase|proteasome endopeptidase activity|elastase activity|endoprotease activity PATO:0001546 quality of a solid biolink:OntologyClass mondo A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable. http://purl.obolibrary.org/obo/PATO_0001546 solidity PATO:0001543 flexibility biolink:OntologyClass mondo A physical quality inhering in a bearer by virtue of the bearer's disposition to being turned, bowed, or twisted without breaking. http://purl.obolibrary.org/obo/PATO_0001543 NCBITaxon:43920 Chrysopsinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43920 GO:0004177 aminopeptidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of N-terminal amino acid residues from in a polypeptide chain. http://purl.obolibrary.org/obo/GO_0004177 PATO:0001547 quality of a gas biolink:OntologyClass mondo A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape. http://purl.obolibrary.org/obo/PATO_0001547 gaseous PATO:0001548 quality of a liquid biolink:OntologyClass mondo A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. http://purl.obolibrary.org/obo/PATO_0001548 liquidity GO:0090139 mitochondrial DNA packaging biolink:OntologyClass mondo Any process in which mitochondrial DNA and associated proteins are formed into a compact, orderly structure. http://purl.obolibrary.org/obo/GO_0090139 CHEBI:138675 gas molecular entity biolink:ChemicalSubstance mondo Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entities|gaseous molecular entity|gaseous molecular entities NCBITaxon:43913 Chrysomyinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43913 PATO:0001555 has number of biolink:OntologyClass mondo The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts. http://purl.obolibrary.org/obo/PATO_0001555 number|mereological quality|has or lacks parts of type|number of|extra or missing physical or functional parts|cardinality GO:0016125 sterol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/GO_0016125 sterol metabolism GO:0016126 sterol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/GO_0016126 sterol synthesis|sterol formation|sterol anabolism|sterol biosynthesis GO:0016127 sterol catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/GO_0016127 sterol breakdown|sterol catabolism|sterol degradation GO:0004155 6,7-dihydropteridine reductase activity biolink:OntologyClass mondo Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine. http://purl.obolibrary.org/obo/GO_0004155 NAD(P)H2:6,7-dihydropteridine oxidoreductase activity|6,7-dihydropteridine:NAD(P)H oxidoreductase activity|NADPH-specific dihydropteridine reductase activity|dihydropteridine reductase activity|5,6,7,8-tetrahydropteridine:NAD(P)+ oxidoreductase activity|dihydropteridine reduction|dihydropteridine reductase (NADH) activity|5,6,7,8-tetrahydropteridine:NAD(P)H+ oxidoreductase activity|dihydropteridine (reduced nicotinamide adenine dinucleotide) reductase activity|DHPR activity|NAD(P)H(2):6,7-dihydropteridine oxidoreductase activity|NADPH-dihydropteridine reductase activity|NADH-dihydropteridine reductase activity PATO:0001566 distributed biolink:OntologyClass mondo A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up. http://purl.obolibrary.org/obo/PATO_0001566 diffuse|scattered HGNC:31582 MIR204 biolink:OntologyClass mondo http://identifiers.org/hgnc/31582 PATO:0001563 increased mass biolink:OntologyClass mondo A mass which is higher than normal or average. http://purl.obolibrary.org/obo/PATO_0001563 high mass|large mass PATO:0001562 decreased mass biolink:OntologyClass mondo A mass which is lower than normal or average. http://purl.obolibrary.org/obo/PATO_0001562 low mass|small mass MONDO:0033479 spinocerebellar ataxia 44 biolink:Disease mondo DOID:0080286|UMLS:CN492437|OMIM:617691 DOID:0080286|UMLS:CN492437|http://identifiers.org/omim/617691 http://purl.obolibrary.org/obo/MONDO_0033479 SCA44|spinocerebellar ataxia 44; SCA44 HGNC:18591 NEK9 biolink:OntologyClass mondo http://identifiers.org/hgnc/18591 GO:0100051 obsolete positive regulation of meiotic nuclear division by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates meiotic nuclear division. http://purl.obolibrary.org/obo/GO_0100051 MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome biolink:Disease mondo ICD10:G11.4|MESH:C536869|Orphanet:2816|OMIM:182610|GARD:0004915|UMLS:C1866854 UMLS:C1866854|ORPHA:2816|http://identifiers.org/omim/182610|MESH:C536869 http://purl.obolibrary.org/obo/MONDO_0008439 SPEMR|spastic paraplegia epilepsy mental retardation|spastic paraplegia epilepsy intellectual disability|spastic paraplegia, epilepsy, and mental retardation; SPEMR|spemr|spastic paraplegia, epilepsy, and intellectual disability; SPEMR|spastic paraplegia, epilepsy, and intellectual disability|spastic paraplegia, epilepsy, and mental retardation ordo_disease MONDO:0021412 polyp of maxillary sinus biolink:Disease mondo UMLS:C0264239|ICD9:471.8|NCIT:C3931|SCTID:29074008 A polyp that involves the maxillary sinus. UMLS:C0264239|NCIT:C3931|SNOMEDCT:29074008 http://purl.obolibrary.org/obo/MONDO_0021412 maxillary antral polyp|maxillary sinus polyp|polyp of the maxillary sinus MONDO:0008438 hereditary spastic paraplegia 4 biolink:Disease mondo Orphanet:100985|DOID:0110792|MESH:C536865|UMLS:C4510079|ICD10:G11.4|SCTID:723820001|GARD:0004925|OMIM:182601|NCIT:C129981|UMLS:C1866855 Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. ORPHA:100985|NCIT:C129981|http://identifiers.org/omim/182601|SNOMEDCT:723820001|MESH:C536865|DOID:0110792|UMLS:C4510079|UMLS:C1866855 http://purl.obolibrary.org/obo/MONDO_0008438 familial spastic paraplegia, autosomal dominant, 2|spastic paraplegia 4, autosomal dominant|autosomal dominant spastic paraplegia type 4|familial spastic paraplegia autosomal dominant 2|SPG4|SPAST hereditary spastic paraplegia|autosomal dominant spastic paraplegia 4|FSP2|spastic paraplegia 4|hereditary spastic paraplegia type 4|hereditary spastic paraplegia caused by mutation in SPAST|spastic paraplegia 4, autosomal dominant; SPG4 ordo_disease MONDO:0008437 hereditary spastic paraplegia 3A biolink:Disease mondo ICD10:G11.4|NCIT:C142893|DOID:0110791|MESH:C536864|GARD:0005041|OMIM:182600|UMLS:C2931355|Orphanet:100984 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene. NCIT:C142893|ORPHA:100984|http://identifiers.org/omim/182600|MESH:C536864|DOID:0110791|UMLS:C2931355 http://purl.obolibrary.org/obo/MONDO_0008437 familial spastic paraplegia, autosomal dominant, 1|spastic paraplegia 3, autosomal dominant|Strumpell disease|autosomal dominant familial spastic paraplegia 1|Spg3|ATL1 hereditary spastic paraplegia|SPG3A|FSP1|hereditary spastic paraplegia caused by mutation in ATL1|strumpell disease|autosomal dominant spastic paraplegia type 3|Strümpell disease|autosomal dominant spastic paraplegia 3|spastic Paraplegia 3A|spastic paraplegia 3|spastic paraplegia 3, autosomal dominant; SPG3A|hereditary spastic paraplegia type 3A ordo_disease MONDO:0008436 Sneddon syndrome biolink:Disease mondo MedDRA:10053841|SCTID:238776001|ICD10:I77.8|DOID:13096|OMIM:182410|EFO:1001186|MESH:D018860|Orphanet:820|UMLS:C0282492|GARD:0007664 Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. MEDDRA:10053841|UMLS:C0282492|http://identifiers.org/omim/182410|DOID:13096|ORPHA:820|SNOMEDCT:238776001|MESH:D018860 http://purl.obolibrary.org/obo/MONDO_0008436 livedo reticularis-cerebrovascular accident syndrome|Ehrmann-Sneddon syndrome|livedo racemosa and cerebrovascular accidents|cerebro-vascular lesions and livedo reticularis|idiopathic livedo reticularis with systemic involvement|livedo racemosa-cerebrovascular accident syndrome|Sneddon's syndrome|Sneddon syndrome|livedo reticularis and cerebrovascular accidents ordo_disease|gard_rare MONDO:0008435 Somatomedin, embryonic biolink:Disease mondo OMIM:182400 http://identifiers.org/omim/182400 http://purl.obolibrary.org/obo/MONDO_0008435 Somatomedin, embryonic MONDO:0008434 Smith-Magenis syndrome biolink:Disease mondo DOID:0060768|UMLS:C0795864|ICD10:Q93.5|MESH:D058496|SCTID:401315004|GARD:0008197|Orphanet:819|OMIM:182290|ICD9:758.33|NCIT:C75469 Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. MESH:D058496|SNOMEDCT:401315004|UMLS:C0795864|http://identifiers.org/omim/182290|NCIT:C75469|ORPHA:819|DOID:0060768 http://purl.obolibrary.org/obo/MONDO_0008434 SMITH-Magenis syndrome; SMS|SMS|chromosome 17P11.2 deletion syndrome|chromosome 17p11.2 deletion syndrome|Smith-Magenis chromosome region|Smith-Magenis syndrome|17p11.2 microdeletion syndrome|Smith-Magenis syndrome chromosome region ordo_malformation_syndrome MONDO:0008433 small cell lung carcinoma biolink:Disease mondo EFO:0000702|NCIT:C4917|ICD10:C34.9|SCTID:254632001|DOID:5409|KEGG:05222|ONCOTREE:SCLC|DOID:5411|MESH:D055752|UMLS:CN244903|UMLS:C0262584|OMIM:182280|ICD9:162.9|Orphanet:70573 Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure. NCIT:C4917|UMLS:CN244903|DOID:5411|DOID:5409|MESH:D055752|http://identifiers.org/omim/182280|ORPHA:70573|SNOMEDCT:254632001|UMLS:C0262584 http://purl.obolibrary.org/obo/MONDO_0008433 small cell lung cancer|oat cell carcinoma of the lung|oat cell carcinoma (morphologic abnormality)|SCLC1|small cell cancer of the lung|lung small cell neuroendocrine carcinoma|small cell neuroendocrine carcinoma of lung|small cell carcinoma of the lung|SCLC|oat cell carcinoma|oat cell lung carcinoma|small cell neuroendocrine carcinoma of the lung|lung small cell carcinoma|lung oat cell carcinoma|small cell carcinoma of lung|poorly differentiated endocrine neoplasm|oat cell carcinoma of lung ordo_disease MONDO:0008432 ketone compounds, ability to smell biolink:Disease mondo OMIM:182270 http://identifiers.org/omim/182270 http://purl.obolibrary.org/obo/MONDO_0008432 ketone compounds, ability to smell MONDO:0008431 slipped femoral capital epiphyses biolink:Disease mondo UMLS:C0149887|OMIM:182260|MESH:D060048 A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip. UMLS:C0149887|MESH:D060048|http://identifiers.org/omim/182260 http://purl.obolibrary.org/obo/MONDO_0008431 epiphysiolysis capitis femoris|slipped femoral capital epiphyses NCBITaxon:28344 Porcine reproductive and respiratory syndrome virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_28344 PRRSV|porcine reproductive and respiratory syndrome virus PRRSV|Porcine respiratory and reproductive syndrome virus|Porcine reproductive and respiratory syndrome virus (PRRSV)|porcine reproductive and respiratory syndrome virus, PRRSV MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification biolink:Disease mondo MESH:C566687|OMIM:182255|UMLS:C1866939 http://identifiers.org/omim/182255|MESH:C566687|UMLS:C1866939 http://purl.obolibrary.org/obo/MONDO_0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification UBERON:0005076 hindbrain-spinal cord boundary biolink:AnatomicalEntity mondo An anatomical boundary that adjacent_to a hindbrain and adjacent_to a spinal cord. http://purl.obolibrary.org/obo/UBERON_0005076 hindbrain-spinal cord boundary region UBERON:0005075 forebrain-midbrain boundary biolink:AnatomicalEntity mondo An anatomical boundary that adjacent_to a forebrain and adjacent_to a midbrain. http://purl.obolibrary.org/obo/UBERON_0005075 forebrain-midbrain boundary region|diencephalic-mesencephalic boundary|forebrain midbrain boundary MONDO:0021404 polyp of sphenoidal sinus biolink:Disease mondo SCTID:90685008|NCIT:C3933|ICD9:471.8|UMLS:C0264255 A polyp that involves the sphenoidal sinus. NCIT:C3933|UMLS:C0264255|SNOMEDCT:90685008 http://purl.obolibrary.org/obo/MONDO_0021404 sphenoid sinus polyp|polyp of sphenoid sinus|polyp of the sphenoid sinus|polyp of the sphenoidal sinus|sphenoidal sinus polyp MONDO:0021408 polyp of frontal sinus biolink:Disease mondo SCTID:195759002|NCIT:C4367|UMLS:C0339814|ICD9:471.8 A polyp that involves the frontal sinus. UMLS:C0339814|SNOMEDCT:195759002|NCIT:C4367 http://purl.obolibrary.org/obo/MONDO_0021408 frontal sinus polyp|polyp of the frontal sinus MONDO:0021400 polyp of colon biolink:Disease mondo MESH:D003111|SCTID:68496003|NCIT:C2954|ICD10:K63.5 A polyp that involves the colon. NCIT:C2954|MESH:D003111|SNOMEDCT:68496003 http://purl.obolibrary.org/obo/MONDO_0021400 colonic polyp|colon polyp|polyp of the colon MONDO:0008449 spina bifida (disease) biolink:Disease mondo ICD9:741|HP:0002414|EFO:0003105|MESH:D016135|SCTID:67531005|NCIT:C101214|COHD:4283381|DOID:0080016 A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. DOID:0080016|SNOMEDCT:67531005|NCIT:C101214|MESH:D016135 http://purl.obolibrary.org/obo/MONDO_0008449 spinal meningocele|NTD|neural tube defects, susceptibility to; NTD|rachischisis|spinal myelomeningocele|neural tube defects, susceptibility to|spina bifida|spinal myelocele MONDO:0021402 polyp of external auditory canal biolink:Disease mondo SCTID:95211004|NCIT:C4366|UMLS:C0339765 A polyp that involves the external acoustic meatus. UMLS:C0339765|NCIT:C4366|SNOMEDCT:95211004 http://purl.obolibrary.org/obo/MONDO_0021402 external Ear polyp|polyp of the external auditory canal|external acoustic meatus polyp|external auditory canal polyp MONDO:0008448 spheroid body myopathy biolink:Disease mondo MESH:C000598645|UMLS:C1866785|DOID:0080091|SCTID:765092004|Orphanet:268129|OMIM:182920|GARD:0008711|ICD10:G71.8 Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. MESH:C000598645|ORPHA:268129|DOID:0080091|http://identifiers.org/omim/182920|SNOMEDCT:765092004|UMLS:C1866785 http://purl.obolibrary.org/obo/MONDO_0008448 myopathy, spheroid body|autosomal dominant spheroid body myopathy gard_rare|ordo_disease MONDO:0008447 hereditary spherocytosis type 1 biolink:Disease mondo DOID:0110916|UMLS:C2674218|OMIM:182900 Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene. UMLS:C2674218|http://identifiers.org/omim/182900|DOID:0110916 http://purl.obolibrary.org/obo/MONDO_0008447 hereditary spherocytosis 1|spherocytosis, type 1; SPH1|spherocytosis, type 1|SPH1|spherocytosis, hereditary, 1|Sph|hereditary spherocytosis caused by mutation in ANK1|HS1|ANK1 hereditary spherocytosis PATO:0001501 immature biolink:OntologyClass mondo A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development. http://purl.obolibrary.org/obo/PATO_0001501 underdeveloped MONDO:0008446 sperm protamine P4 biolink:Disease mondo OMIM:182882 http://identifiers.org/omim/182882 http://purl.obolibrary.org/obo/MONDO_0008446 sperm protamine P4|sperm protamine P4; PRM4|PRM4 MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome biolink:Disease mondo ICD10:Q87.0|OMIM:182875|UMLS:C2931119|GARD:0003449|Orphanet:3038|SCTID:716199000 This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. http://identifiers.org/omim/182875|UMLS:C2931119|SNOMEDCT:716199000|ORPHA:3038 http://purl.obolibrary.org/obo/MONDO_0008445 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE|Mehes syndrome|delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases ordo_malformation_syndrome MONDO:0008444 spastic paraplegia, optic atrophy, and dementia biolink:Disease mondo MESH:C566679|UMLS:C1866849|OMIM:182830 MESH:C566679|http://identifiers.org/omim/182830|UMLS:C1866849 http://purl.obolibrary.org/obo/MONDO_0008444 spastic paraplegia, optic atrophy, and dementia MONDO:0008443 spastic paraplegia-precocious puberty syndrome biolink:Disease mondo Orphanet:2826|OMIM:182820|MESH:C536874|GARD:0004918|UMLS:C1866850 Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. ORPHA:2826|MESH:C536874|http://identifiers.org/omim/182820|UMLS:C1866850 http://purl.obolibrary.org/obo/MONDO_0008443 familial spastic paraplegia, mental retardation, and precocious puberty|familial spastic paraplegia, intellectual disability, and precocious puberty|precocious puberty with spastic paraplegia|spastic paraplegia with precocious puberty ordo_disease MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome biolink:Disease mondo UMLS:C1866851|GARD:0004921|MESH:C536870|Orphanet:2821|OMIM:182815 Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. ORPHA:2821|http://identifiers.org/omim/182815|MESH:C536870|UMLS:C1866851 http://purl.obolibrary.org/obo/MONDO_0008442 spastic paraplegia neuropathy poikiloderma|familial spastic paraplegia with neuropathy and poikiloderma|spastic paraplegia with neuropathy and poikiloderma|Antinolo-Nieto-Borrego syndrome ordo_disease MONDO:0008441 spastic paraplegia with associated extrapyramidal signs biolink:Disease mondo OMIM:182800|MESH:C566681|UMLS:C1866852 MESH:C566681|http://identifiers.org/omim/182800|UMLS:C1866852 http://purl.obolibrary.org/obo/MONDO_0008441 spastic paraplegia with associated extrapyramidal signs MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome biolink:Disease mondo Orphanet:2820|GARD:0002342|UMLS:C2931667|OMIM:182690|MESH:C537937 This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. ORPHA:2820|MESH:C537937|http://identifiers.org/omim/182690|UMLS:C2931667 http://purl.obolibrary.org/obo/MONDO_0008440 spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy|spastic paraplegia - nephritis - deafness|spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy|Fitzsimmons Walson Mellor syndrome|Fitzsimmons-Walson-Mellor syndrome|spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy ordo_clinical_syndrome|gard_rare UBERON:0005068 neural rod biolink:AnatomicalEntity mondo A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. http://purl.obolibrary.org/obo/UBERON_0005068 neural tube rod UBERON:0005066 right ventricular trabecular myocardium biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0005066 UBERON:0005064 left ventricular trabecular myocardium biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0005064 UBERON:0005062 neural fold biolink:AnatomicalEntity mondo One of the two elevated edges of the neural groove[GO,MP]. http://purl.obolibrary.org/obo/UBERON_0005062 medullary fold UBERON:0005061 neural groove biolink:AnatomicalEntity mondo The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. http://purl.obolibrary.org/obo/UBERON_0005061 HGNC:18571 XKRY biolink:OntologyClass mondo http://identifiers.org/hgnc/18571 GO:0100070 obsolete obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates fatty acid biosynthetic process. http://purl.obolibrary.org/obo/GO_0100070 MONDO:0008419 scoliosis, isolated, susceptibility to, 1 biolink:Disease mondo OMIM:181800 http://identifiers.org/omim/181800 http://purl.obolibrary.org/obo/MONDO_0008419 adolescent idiopathic scoliosis|scoliosis, isolated, susceptibility to, 1|scoliosis, isolated, susceptibility to, 1; IS1|adolescent isolated scoliosis|IS1 predisposition MONDO:0008418 scleroderma, familial progressive biolink:Disease mondo UMLS:C1866983|OMIM:181750 http://identifiers.org/omim/181750|UMLS:C1866983 http://purl.obolibrary.org/obo/MONDO_0008418 systemic sclerosis, susceptibility to|Crest syndrome|scleroderma, familial progressive MONDO:0008417 sclerocornea, autosomal dominant biolink:Disease mondo MESH:C566692|OMIM:181700 http://identifiers.org/omim/181700|MESH:C566692 http://purl.obolibrary.org/obo/MONDO_0008417 sclerocornea, autosomal dominant MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome biolink:Disease mondo SCTID:239076000|OMIM:181600|Orphanet:384|ICD10:Q82.8|ICD9:757.39|MESH:C537526|GARD:0008517 SNOMEDCT:239076000|MESH:C537526|ORPHA:384|http://identifiers.org/omim/181600 http://purl.obolibrary.org/obo/MONDO_0008416 HURIEZ syndrome; HRZ|atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles|Huriez syndrome|HRZ|SCLEROTYLOSIS|Tys|Sclerotylosis|palmoplantar hyperkeratosis-sclerodactyly syndrome|Scleroatrophic syndrome|Scleroatrophic and keratotic dermatosis of limbs gard_rare|ordo_disease MONDO:0008415 obsolete Scholte syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008415 MONDO:0008414 SCZD1 biolink:Disease mondo OMIM:181510|DOID:0070077 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35. DOID:0070077|http://identifiers.org/omim/181510 http://purl.obolibrary.org/obo/MONDO_0008414 schizophrenia 1|SCZD1|schizophrenia 1; SCZD1|schizophrenia 1 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 5-related MONDO:0008413 obsolete schizophrenia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008413 MONDO:0008412 intestinal schistosomiasis biolink:Disease mondo OMIM:181460|EFO:1001419|ICD9:120.2|ICD9:120.1|ICD10:B65.2|ICD10:B65.1|SCTID:240796008|DOID:0050597 An intestinal infection that is caused by Schistosoma japonicum. SNOMEDCT:240796008|DOID:0050597|http://identifiers.org/omim/181460 http://purl.obolibrary.org/obo/MONDO_0008412 Schistosoma mansoni infectious disease|Schistosoma mansoni infection, susceptibility/resistance to|Katayama fever|Schistosoma mansoni, intensity of infection by|Schistosoma japonicum infection|schistosomiasis japonica MONDO:0008411 ulnar-mammary syndrome biolink:Disease mondo ICD9:759.89|DOID:0060614|GARD:0000118|OMIM:181450|MESH:C536937|ICD10:Q71.8|Orphanet:3138|UMLS:C1866994|SCTID:700211007 Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described. UMLS:C1866994|ORPHA:3138|SNOMEDCT:700211007|http://identifiers.org/omim/181450|MESH:C536937|DOID:0060614 http://purl.obolibrary.org/obo/MONDO_0008411 ums|ulnar-mammary syndrome; ums|Schinzel syndrome|ulnar-mammary syndrome|ulnar-mammary syndrome of Pallister|Pallister ulnar-mammary syndrome ordo_malformation_syndrome|gard_rare MONDO:0008410 Scheuermann disease biolink:Disease mondo ICD10:M42.00|DOID:13300|OMIM:181440|NCIT:C34999|ICD9:732.0|GARD:0007610|Orphanet:3135|UMLS:C0036310|COHD:433565|ICD10:M42.0|SCTID:53406005|EFO:0008576 A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood. SNOMEDCT:53406005|ORPHA:3135|NCIT:C34999|DOID:13300|UMLS:C0036310|http://identifiers.org/omim/181440 http://purl.obolibrary.org/obo/MONDO_0008410 Calve's disease|Scheuermann kyphosis|familial spinal osteochondrosis|spinal Osteochondrosis|Sherman's disease|Scheuermann's kyphosis|juvenile kyphosis|juvenile osteochondrosis of Scheurermann|juvenile osteochondrosis of spine|juvenile osteochondritis of the spine|Scheuermann's disease|Scheuermann disease|Scheuermann juvenile kyphosis|familial Scheuermann disease|familial Scheuermann juvenile kyphosis ordo_malformation_syndrome NCBITaxon:207245 Fornicata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_207245 Diplomonadida group UBERON:0005057 immune organ biolink:AnatomicalEntity mondo An organ that is part of a immune system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005057 immune system organ NCBITaxon:31979 Clostridiaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_31979 UBERON:0005056 external female genitalia biolink:AnatomicalEntity mondo An external genitalia that is part of a female reproductive system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005056 external genitalia of female reproductive system|female external genitalia|external female genital organ|organa genitalia feminina externa UBERON:0005055 zone of long bone biolink:AnatomicalEntity mondo An organ part that is part of a long bone [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005055 long bone zone UBERON:0005051 mediastinum testis biolink:AnatomicalEntity mondo The mediastinum testis is a network of fibrous connective tissue that extends from the upper to near the lower extremity of the testis, and is wider above than below. From its front and sides numerous imperfect septa (trabeculæ) are given off, which radiate toward the surface of the organ, and are attached to the tunica albuginea. They divide the interior of the organ into a number of incomplete spaces, called lobules. These are somewhat cone-shaped, being broad at their bases at the surface of the gland, and becoming narrower as they converge to the mediastinum. The mediastinum supports the rete testis and blood vessels of the testis in their passage to and from the substance of the gland[WP] http://purl.obolibrary.org/obo/UBERON_0005051 body of highmore|hilum of testicle|testis mediastinum|mediastinum of testis HGNC:31555 MIR184 biolink:OntologyClass mondo http://identifiers.org/hgnc/31555 HGNC:18576 CCNO biolink:OntologyClass mondo http://identifiers.org/hgnc/18576 UBERON:0005058 hemolymphoid system gland biolink:AnatomicalEntity mondo A gland that is part of a hemolymphoid system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005058 hemopoietic or lymphoid gland|haemolymphoid system gland|hemopoietic or lymphoid organ MONDO:0008429 singleton-Merten dysplasia biolink:Disease mondo ICD10:Q78.8|MESH:C537343|DC:0000703|UMLS:C0432254|ICD9:733.29|OMIMPS:182250|GARD:0000122|SCTID:254114000|Orphanet:85191 Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male). SNOMEDCT:254114000|MESH:C537343|ORPHA:85191|UMLS:C0432254 http://purl.obolibrary.org/obo/MONDO_0008429 widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness|Merten-singleton syndrome|singleton-Merten syndrome|syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition|singleton Merten syndrome|SGMRT1|SM syndrome ordo_malformation_syndrome|gard_rare PATO-PROPERTY:has_cross_section has_cross_section biolink:OntologyClass mondo s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/pato#has_cross_section MONDO:0008428 septooptic dysplasia biolink:Disease mondo MedDRA:10067159|DOID:0060857|OMIM:182230|SCTID:7611002|MESH:D025962|NCIT:C85063|UMLS:C0338503|ICD10:Q04.8|Orphanet:3157|GARD:0007627 Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. DOID:0060857|MEDDRA:10067159|ORPHA:3157|http://identifiers.org/omim/182230|SNOMEDCT:7611002|MESH:D025962|UMLS:C0338503|NCIT:C85063 http://purl.obolibrary.org/obo/MONDO_0008428 SOD|pituitary hormone deficiency, combined, 5|De Morsier syndrome|hypopituitarism and septooptic 'dysplasia'|septo-optic dysplasia|septo-optic dysplasia sequence|septo-optic dysplasia with growth hormone deficiency|septo-optic dysplasia spectrum|septooptic dysplasia|Growth hormone deficiency with pituitary anomalies ordo_malformation_syndrome MONDO:0008427 sister chromatid exchange, frequency of biolink:Disease mondo OMIM:182220 http://identifiers.org/omim/182220 http://purl.obolibrary.org/obo/MONDO_0008427 sister chromatid exchange, frequency of|SCE, frequency of MONDO:0008426 Shprintzen-Goldberg syndrome biolink:Disease mondo GARD:0004861|NCIT:C124840|SCTID:719069008|ICD10:Q87.8|OMIM:182212|UMLS:C1321551|Orphanet:2462 Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. NCIT:C124840|UMLS:C1321551|ORPHA:2462|MESH:C537328|http://identifiers.org/omim/182212|SNOMEDCT:719069008 http://purl.obolibrary.org/obo/MONDO_0008426 Marfanoid disorder with craniosynostosis type 1|Shprintzen-Goldberg craniosynostosis syndrome|SGS|Marfanoid disorder with craniosynostosis, type 1|Marfanoid craniosynostosis syndrome|Shprintzen-Goldberg craniosynostosis syndrome; SGS|SGS|Shprintzen-Goldberg marfanoid syndrome|Marfanoid-craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias clingen|ordo_malformation_syndrome MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type biolink:Disease mondo UMLS:C1866958|SCTID:716230005|MESH:C537329|GARD:0009850|ICD10:Q79.2|OMIM:182210|Orphanet:3164 Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. UMLS:C1866958|ORPHA:3164|MESH:C537329|http://identifiers.org/omim/182210|SNOMEDCT:716230005 http://purl.obolibrary.org/obo/MONDO_0008425 omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis|omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies|laryngeal and pharyngeal hypoplasia with omphalocele|Shprintzen-Goldberg omphalocele syndrome|pharynx and larynx hypoplasia with omphalocele|Shprintzen omphalocele syndrome ordo_malformation_syndrome MONDO:0008424 sella turcica, bridged biolink:Disease mondo OMIM:182200|MESH:C566689 http://identifiers.org/omim/182200|MESH:C566689 http://purl.obolibrary.org/obo/MONDO_0008424 sella turcica, bridged MONDO:0008423 sinus node disease and myopia biolink:Disease mondo GARD:0004880|MESH:C566690|UMLS:C1866960|OMIM:182190 http://identifiers.org/omim/182190|MESH:C566690|UMLS:C1866960 http://purl.obolibrary.org/obo/MONDO_0008423 sinus node disease and myopia|Sss-myopia syndrome|sick sinus syndrome and myopia gard_rare MONDO:0008422 autosomal dominant sideroblastic anemia biolink:Disease mondo OMIM:182170|MESH:C567160|DOID:0060335|UMLS:C2674249 Autosomal dominant form of sideroblastic anemia. MESH:C567160|http://identifiers.org/omim/182170|UMLS:C2674249|DOID:0060335 http://purl.obolibrary.org/obo/MONDO_0008422 anemia, sideroblastic, 4; SIDBA4|SIDBA4|sideroblastic anemia, autosomal dominant|anemia, sideroblastic, autosomal dominant|anemia, sideroblastic, 4 MONDO:0008421 flat face-microstomia-ear anomaly syndrome biolink:Disease mondo UMLS:C1866962|MESH:C537339|Orphanet:1968|ICD10:Q87.0|GARD:0004873|OMIM:182150 Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. MESH:C537339|http://identifiers.org/omim/182150|ORPHA:1968|UMLS:C1866962 http://purl.obolibrary.org/obo/MONDO_0008421 Simosa-Penchaszadeh-Bustos syndrome|blepharophimosis-telecanthus-microstomia syndrome|SIMOSA craniofacial syndrome|Simosa cranio facial syndrome ordo_malformation_syndrome MONDO:0008420 seborrheic keratosis biolink:Disease mondo UMLS:C0022603|NCIT:C9006|Wikipedia:Seborrheic_keratosis|ICD9:702.1|GARD:0003108|ICD10:L82|MESH:D017492|OMIM:182000|DOID:6498|EFO:0005584|ICD10:L82.1 A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions. DOID:6498|NCIT:C9006|http://identifiers.org/omim/182000|UMLS:C0022603|MESH:D017492 http://purl.obolibrary.org/obo/MONDO_0008420 keratosis, seborrheic|keratosis Seborrheica|basal cell papilloma NCBITaxon:28314 Aleutian mink disease virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_28314 Aleutian mink disease parvovirus|Aleutian disease virus|AMDV UBERON:0005046 mucosa of hard palate biolink:AnatomicalEntity mondo A mucosa that is part of a hard palate [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005046 hard palate mucosa|organ mucosa of hard palate|mucous membrane of hard palate|hard palate mucous membrane NCBITaxon:31969 Mollicutes organism taxon mondo PMID:2592342|PMID:11321122|PMID:17978244|GC_ID:11|PMID:15143038|PMID:23606477|PMID:8123554|PMID:8863414|PMID:8863413 http://purl.obolibrary.org/obo/NCBITaxon_31969 Mycoplasmas and walled relatives|mycoplasmas|Paramycetes UBERON:0005045 mucosa of ethmoidal sinus biolink:AnatomicalEntity mondo A mucosa that is part of a ethmoid sinus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005045 ethmoid sinus mucosa|ethmoid sinus organ mucosa|ethmoid sinus mucosa of organ|organ mucosa of ethmoid sinus|mucous membrane of ethmoid sinus|mucosa of ethmoid sinus|mucosa of organ of ethmoid sinus|ethmoid sinus mucous membrane|ethmoidal sinus mucosa UBERON:0005044 mucosa of pharyngotympanic tube biolink:AnatomicalEntity mondo A mucosa that is part of a pharyngotympanic tube [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005044 mucuous membrane of pharyngotympanic tube|mucous membrane of pharyngotympanic tube|pharyngotympanic tube mucosa of organ|mucosa of organ of internal auditory tube|organ mucosa of pharyngotympanic tube|pharyngotympanic tube mucosa|tunica mucosa (tuba auditoria)|pharyngotympanic tube organ mucosa|mucosa of internal auditory tube|mucosa of organ of pharyngotympanic tube|mucous membrane of internal auditory tube|organ mucosa of internal auditory tube|tunica mucosa (tuba auditiva)|pharyngotympanic tube mucous membrane|mucous membrane of auditory tube|auditory tube mucosa of organ|organ mucosa of auditory tube|mucosa of auditory tube|internal auditory tube mucosa of organ|internal auditory tube mucosa|internal auditory tube organ mucosa|mucuous membrane of eustachian tube|auditory tube mucous membrane|mucosa of organ of auditory tube|auditory tube mucosa|auditory tube organ mucosa|internal auditory tube mucous membrane UBERON:0005043 mucosa of nasolacrimal duct biolink:AnatomicalEntity mondo A mucosa that is part of a nasolacrimal duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005043 nasolacrimal duct mucosa|nasolacrimal duct organ mucosa|nasolacrimal duct mucous membrane|mucosa of organ of nasolacrimal duct|nasolacrimal ductal mucosa|mucous membrane of nasolacrimal duct|nasolacrimal duct mucosa of organ|organ mucosa of nasolacrimal duct UBERON:0005042 inner epithelial layer of tympanic membrane biolink:AnatomicalEntity mondo A portion of the tympanic cavity epithelium which makes up the outer (cuticular) layer of the tympanic membrane http://purl.obolibrary.org/obo/UBERON_0005042 tympanic membrane mucosa|mucous stratum of tympanic membrane|mucosa of tympanic membrane|mucous layer of tympanic membrane|tympanic membrane external middle ear cavity epithelial component UBERON:0005041 mucosa of respiratory bronchiole biolink:AnatomicalEntity mondo A mucosa that is part of a respiratory bronchiole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005041 mucous membrane of respiratory bronchiole|organ mucosa of respiratory bronchiole|respiratory bronchiole mucosa of organ|organ mucosa of bronchiolus respiratorius|bronchiolus respiratorius mucosa of organ|mucous membrane of bronchiolus respiratorius|mucosa of bronchiolus respiratorius|bronchiolus respiratorius mucosa|respiratory bronchiole mucous membrane|bronchiolus respiratorius mucous membrane|respiratory bronchiole mucosa|mucosa of organ of bronchiolus respiratorius|bronchiolus respiratorius organ mucosa|respiratory bronchiole organ mucosa|mucosa of organ of respiratory bronchiole UBERON:0005040 mucosa of terminal bronchiole biolink:AnatomicalEntity mondo A mucosa that is part of a terminal bronchiole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005040 mucosa of bronchiolus terminalis|organ mucosa of bronchiolus terminalis|mucous membrane of bronchiolus terminalis|mucous membrane of terminal bronchiole|terminal bronchiole mucosa of organ|organ mucosa of terminal bronchiole|bronchiolus terminalis mucosa of organ|bronchiolus terminalis mucosa|bronchiolus terminalis organ mucosa|terminal bronchiole mucosa|terminal bronchiole organ mucosa|terminal bronchiole mucous membrane|mucosa of organ of terminal bronchiole|bronchiolus terminalis mucous membrane|mucosa of organ of bronchiolus terminalis UBERON:0005049 mucosa of infundibulum of uterine tube biolink:AnatomicalEntity mondo A mucosa that is part of a uterine tube infundibulum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005049 organ mucosa of uterine tube infundibulum|mucous membrane of uterine tube infundibulum|uterine tube infundibulum mucosa of organ|mucosa of uterine tube infundibulum|uterine tube infundibulum mucous membrane|mucosa of organ of uterine tube infundibulum|mucosa of infundibulum of fallopian tube|uterine tube infundibulum mucosa|uterine tube infundibulum organ mucosa|mucosa of infundibulum of oviduct UBERON:0005048 mucosa of uterine tube biolink:AnatomicalEntity mondo A mucosa that is part of a fallopian tube [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005048 tunica mucosa tubae uterinae|fallopian tube mucosa|fallopian tube organ mucosa|uterine tube mucosa of organ|mucosa of fallopian tube|mucous membrane of fallopian tube|organ mucosa of fallopian tube|uterine tube mucosa|uterine tubal mucosa|uterine tube organ mucosa|uterine tube mucous membrane|fallopian tube mucosa of organ|mucosa of organ of uterine tube|fallopian tube mucous membrane|organ mucosa of uterine tube|mucous membrane of uterine tube|mucosa of organ of fallopian tube|mucosa of oviduct UBERON:0005047 mucosa of vocal fold biolink:AnatomicalEntity mondo A mucosa that is part of a vocal cord [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005047 true vocal cord mucosa|vocal fold mucosa|true vocal cord organ mucosa|mucosa of vocal cord|mucous membrane of vocal cord|organ mucosa of vocal cord|organ mucosa of true vocal cord|true vocal cord mucosa of organ|mucous membrane of true vocal cord|mucosa of true vocal cord|vocal cord mucosa of organ|true vocal cord mucous membrane|mucosa of organ of true vocal cord|vocal cord mucous membrane|vocal cord mucosa|mucosa of glottis|mucosa of organ of vocal cord|vocal cord organ mucosa MONDO:0021450 benign neoplasm of heart biolink:Disease mondo SCTID:92132009|ICD10:D15.1|ICD9:212.7|UMLS:C0153957|NCIT:C3605 A benign neoplasm that involves the heart. NCIT:C3605|SNOMEDCT:92132009|UMLS:C0153957 http://purl.obolibrary.org/obo/MONDO_0021450 benign Cardiac neoplasm|benign Cardiac tumor|benign heart neoplasm|benign neoplasm of the heart|heart benign neoplasm|benign heart tumor|benign tumor of the heart|benign tumor of heart MONDO:0021451 benign neoplasm of brain biolink:Disease mondo EFO:1000107|SCTID:92030004|NCIT:C4781|ICD9:225.0 A benign neoplasm that involves the brain. SNOMEDCT:92030004|NCIT:C4781 http://purl.obolibrary.org/obo/MONDO_0021451 benign brain neoplasm|benign neoplasm of the brain|brain neoplasms, benign|benign tumor of the brain|benign brain tumor|benign tumor of brain|brain benign neoplasm HGNC:18550 IER3IP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18550 MONDO:0021452 benign neoplasm of cornea biolink:Disease mondo UMLS:C0154026|NCIT:C3623|ICD9:224.4|SCTID:92070006 A benign neoplasm that involves the cornea. NCIT:C3623|SNOMEDCT:92070006|UMLS:C0154026 http://purl.obolibrary.org/obo/MONDO_0021452 benign tumor of cornea|benign tumor of the cornea|benign neoplasm of the cornea|benign cornea tumor|benign corneal tumor|benign corneal neoplasm|benign cornea neoplasm|cornea benign neoplasm MONDO:0021453 benign neoplasm of retina biolink:Disease mondo NCIT:C3624|UMLS:C0154027|SCTID:92321003|ICD9:224.5 A benign neoplasm that involves the retina. NCIT:C3624|UMLS:C0154027|SNOMEDCT:92321003 http://purl.obolibrary.org/obo/MONDO_0021453 benign neoplasm of the retina|benign retina tumor|benign retinal tumor|benign retinal neoplasm|benign retina neoplasm|retina benign neoplasm|benign tumor of retina|benign tumor of the retina MONDO:0021454 benign neoplasm of eye biolink:Disease mondo ICD9:224.0|SCTID:92097004|ICD9:224.9|UMLS:C0496897|ICD9:224.8|NCIT:C4780 A benign neoplasm that involves the eye. SNOMEDCT:92097004|NCIT:C4780|UMLS:C0496897 http://purl.obolibrary.org/obo/MONDO_0021454 eye benign neoplasm|benign neoplasm of the eye|benign ocular tumor|benign tumor of the eye|benign eye tumor|benign tumor of eye|benign eye neoplasm|benign ocular neoplasm MONDO:0021455 benign neoplasm of neck biolink:Disease mondo SCTID:92246000|NCIT:C4884|ICD9:229.8|UMLS:C0684815 A benign neoplasm that involves the neck. UMLS:C0684815|NCIT:C4884|SNOMEDCT:92246000 http://purl.obolibrary.org/obo/MONDO_0021455 benign neck neoplasm|benign tumor of neck|neck benign neoplasm|benign tumor of the neck|benign neoplasm of the neck|benign neck tumor MONDO:0021456 benign neoplasm of sternum biolink:Disease mondo UMLS:C0347312|NCIT:C8416|SCTID:92410006 A benign neoplasm that involves the sternum. SNOMEDCT:92410006|UMLS:C0347312|NCIT:C8416 http://purl.obolibrary.org/obo/MONDO_0021456 benign sternal tumor|benign neoplasm of the sternum|benign tumor of the sternum|benign tumor of sternum|benign sternal neoplasm|sternum benign neoplasm MONDO:0021457 benign neoplasm of pleura biolink:Disease mondo NCIT:C3603|SCTID:92298003|ICD9:212.4|UMLS:C0153955 A benign neoplasm that involves the pleura. UMLS:C0153955|NCIT:C3603|SNOMEDCT:92298003 http://purl.obolibrary.org/obo/MONDO_0021457 benign tumor of pleura|benign tumor of the pleura|benign pleural tumor|benign neoplasm of the pleura|benign pleural neoplasm|pleura benign neoplasm MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type biolink:Disease mondo MESH:C535793|UMLS:C0432221|OMIM:184255|ICD10:Q77.8|GARD:0004991|Orphanet:93315|SCTID:254078005 Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies). UMLS:C0432221|MESH:C535793|ORPHA:93315|SNOMEDCT:254078005|http://identifiers.org/omim/184255 http://purl.obolibrary.org/obo/MONDO_0008479 spondylometaphyseal dysplasia corner fracture type|SMDCF|Sutcliffe SmD|spondylometaphyseal dysplasia, Sutcliffe type|spondylometaphyseal dysplasia, corner fracture type; SMDCF|Sutcliffe type of spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, corner fracture type|spondylometaphyseal dysplasia Sutcliffe type ordo_disease|gard_rare MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type biolink:Disease mondo GARD:0000504|SCTID:719304005|MESH:C535794|Orphanet:93316|OMIM:184253|ICD10:Q77.8 Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. MESH:C535794|SNOMEDCT:719304005|ORPHA:93316|http://identifiers.org/omim/184253 http://purl.obolibrary.org/obo/MONDO_0008478 spondylometaphyseal dysplasia Schmidt type|spondylometaphyseal dysplasia, Algerian type|spondylometaphyseal dysplasia with severe genu valgum|spondylometaphyseal dysplasia, Schmidt type|Schmid metaphyseal dysostosis|spondylometaphyseal dysplasia Algerian type ordo_disease MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type biolink:Disease mondo GARD:0003047|ICD10:Q77.8|Orphanet:93314|OMIM:184252|MESH:C535797 Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. UMLS:C0265280|MESH:C535797|ORPHA:93314|http://identifiers.org/omim/184252 http://purl.obolibrary.org/obo/MONDO_0008477 Jequier-Kozlowski syndrome|Jequier Kozlowski skeletal dysplasia|spondylometaphyseal dysplasia, Kozlowski type; SMDK|SMDK|skeletal dysplasia Jequier-Kozlowski type|SmD Kozlowski type|SmD, Kozlowski type|spondylometaphyseal dysplasia, Kozlowski type|Dysmorphism arthrogryposis skeletal maturation advanced ordo_disease|gard_rare MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type biolink:Disease mondo GARD:0000134|SCTID:702350003|OMIM:184250|ICD9:758.89|Orphanet:93346|ICD10:Q77.7|DOID:0080028 Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). ORPHA:93346|SNOMEDCT:702350003|http://identifiers.org/omim/184250|DOID:0080028 http://purl.obolibrary.org/obo/MONDO_0008476 SMED Strudwick type|Semdc|spondyloepimetaphyseal dysplasia, Strudwick type; SEMDSTWK|spondylometaepiphyseal dysplasia congenita, Strudwick type|spondylometaphyseal dysplasia|Smed, type 1|Strudwick syndrome|spondyloepimetaphyseal dysplasia, Strudwick type|SMED type 1|SEMDSTWK|spondyloepimetaphyseal dysplasia Strudwick type|spondyloepimetaphyseal dysplasia congenita, Strudwick type|dappled metaphysis syndrome|SmD|SEMD, Strudwick type|Smed, Strudwick type gard_rare|ordo_disease MONDO:0008475 spondylolisthesis (disease) biolink:Disease mondo UMLS:C0038016|NCIT:C35033|HP:0003302|ICD10:M43.10|EFO:0007493|OMIM:184200|MESH:D013168|DOID:6682|ICD10:M43.1|SCTID:274152003 A condition in which there is forward displacement of a vertebral bone over the on below it. SNOMEDCT:274152003|http://identifiers.org/omim/184200|NCIT:C35033|UMLS:C0038016|DOID:6682|MESH:D013168 http://purl.obolibrary.org/obo/MONDO_0008475 spondylolisthesis MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant biolink:Disease mondo UMLS:C1866717|OMIM:184100|GARD:0010624|MESH:C566658 Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies. UMLS:C1866717|http://identifiers.org/omim/184100|MESH:C566658 http://purl.obolibrary.org/obo/MONDO_0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant|autosomal dominant spondyloepiphyseal dysplasia tarda gard_rare GO:0100017 obsolete negative regulation of cell-cell adhesion by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates single organismal cell-cell adhesion. http://purl.obolibrary.org/obo/GO_0100017 MONDO:0008473 spondyloepiphyseal dysplasia, Maroteaux type biolink:Disease mondo SCTID:719204007|ICD10:Q77.7|GARD:0000994|UMLS:CN202294|OMIM:184095|Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. ORPHA:263482|UMLS:CN202294|http://identifiers.org/omim/184095|SNOMEDCT:719204007 http://purl.obolibrary.org/obo/MONDO_0008473 spondyloepiphyseal dysplasia, Maroteaux type|pseudo-Morquio syndrome, type 2|brachyolmia Maroteaux type|spondyloepiphyseal dysplasia Maroteaux type|pseudo-Morquio syndrome type 2|Sed, Maroteaux type ordo_disease GO:0100018 obsolete regulation of glucose import by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates glucose import. http://purl.obolibrary.org/obo/GO_0100018 MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type biolink:Disease mondo Orphanet:163668|OMIM:184000|UMLS:C1866719|MESH:C566659|ICD10:Q77.7 Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. ORPHA:163668|UMLS:C1866719|http://identifiers.org/omim/184000|MESH:C566659 http://purl.obolibrary.org/obo/MONDO_0008472 spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome|spondyloepiphyseal dysplasia, myopia, and sensorineural deafness ordo_malformation_syndrome MONDO:0008471 spondyloepiphyseal dysplasia congenita biolink:Disease mondo ICD10:Q77.7|MedDRA:10062920|DOID:14789|Orphanet:94068|ICD9:756.9|MESH:C535788|SCTID:278713008|OMIM:183900|GARD:0004987 Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. DOID:14789|MESH:C535788|MEDDRA:10062920|ORPHA:94068|UMLS:C2745959|SNOMEDCT:278713008|http://identifiers.org/omim/183900 http://purl.obolibrary.org/obo/MONDO_0008471 SEDC|spondyloepiphyseal dysplasia congenita; SEDC|spondyloepiphyseal dysplasia congenita|late spondyloepiphyseal dysplasia|Spranger-Wiedemann disease|spondyloepiphyseal dysplasia tarda, X-linked; SEDT|congenital spondyloepiphyseal dysplasia|SED congenita|spondyloepiphyseal dysplasia, congenital type ordo_disease|gard_rare MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy biolink:Disease mondo MESH:C566660|OMIM:183850|UMLS:C1866727|Orphanet:163673 ORPHA:163673|UMLS:C1866727|MESH:C566660|http://identifiers.org/omim/183850 http://purl.obolibrary.org/obo/MONDO_0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy|spondyloepiphyseal dysplasia, Byers type FOODON:03400004 obsolete: product type, other biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0004 http://purl.obolibrary.org/obo/FOODON_03400004 MONDO:0021447 benign neoplasm of testis biolink:Disease mondo UMLS:C0154007|SCTID:92428008|ICD9:222.0|NCIT:C3612 A benign neoplasm that involves the testis. UMLS:C0154007|NCIT:C3612|SNOMEDCT:92428008 http://purl.obolibrary.org/obo/MONDO_0021447 benign tumor of the testis|benign testicular neoplasm|benign neoplasm of the testis|benign testicular tumor|testis benign neoplasm|benign tumor of testis MONDO:0021448 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021448 MONDO:0021449 benign neoplasm of stomach biolink:Disease mondo ICD9:211.1|NCIT:C3599|ICD10:D13.1|UMLS:C0153943|SCTID:92411005 A benign neoplasm that involves the stomach. SNOMEDCT:92411005|UMLS:C0153943|NCIT:C3599 http://purl.obolibrary.org/obo/MONDO_0021449 stomach tumors, benign|stomach benign neoplasm|gastric neoplasms, benign|benign gastric tumor|benign gastric neoplasm|benign tumors of the stomach|benign tumors of stomach|benign gastric tumors|benign neoplasm of the stomach|stomach neoplasms, benign|gastric tumors, benign|benign tumor of the stomach|benign tumor of stomach|benign stomach tumors|benign stomach neoplasms MONDO:0021440 benign neoplasm of skin biolink:Disease mondo UMLS:C0004998|SCTID:92384009|ICD9:216.9|NCIT:C2896|ICD9:216.8 A benign neoplasm that involves the zone of skin. UMLS:C0004998|SNOMEDCT:92384009|NCIT:C2896 http://purl.obolibrary.org/obo/MONDO_0021440 skin neoplasms, benign|zone of skin benign neoplasm|benign skin neoplasm|benign cutaneous neoplasm|benign cutaneous tumor|benign tumor of skin|benign tumor of the skin|benign skin tumor|benign neoplasm of the skin MONDO:0021441 benign neoplasm of exocrine pancreas biolink:Disease mondo NCIT:C4613|SCTID:271956003|UMLS:C0347285 A benign neoplasm that involves the exocrine pancreas. UMLS:C0347285|NCIT:C4613|SNOMEDCT:271956003 http://purl.obolibrary.org/obo/MONDO_0021441 benign exocrine pancreatic neoplasm|benign exocrine pancreas neoplasm|benign neoplasm of the exocrine pancreas|benign exocrine pancreas tumor|benign tumor of the exocrine pancreas|benign tumor of exocrine pancreas|exocrine pancreas benign neoplasm MONDO:0021443 benign neoplasm of lymph node biolink:Disease mondo NCIT:C3636|UMLS:C0154054|SCTID:92197001|ICD9:229.0 A benign neoplasm that involves the lymph node. UMLS:C0154054|NCIT:C3636|SNOMEDCT:92197001 http://purl.obolibrary.org/obo/MONDO_0021443 benign tumor of lymph node|benign tumor of the lymph node|benign neoplasm of the lymph node|benign lymph node tumor|benign lymph node neoplasm|lymph node benign neoplasm|benign lymph node neoplasm NOS MONDO:0021444 benign neoplasm of large intestine biolink:Disease mondo SCTID:92170008|NCIT:C4610|UMLS:C0347272 A benign neoplasm that involves the large intestine. UMLS:C0347272|NCIT:C4610|SNOMEDCT:92170008 http://purl.obolibrary.org/obo/MONDO_0021444 colorectal neoplasms, benign|large intestine benign neoplasm|benign neoplasm of the large bowel|benign neoplasm of large bowel|benign tumor of the large bowel|benign large bowel tumor|tumors, colorectal, benign|colorectal tumors, benign|benign tumor of large bowel|benign colorectal neoplasm|benign large intestine neoplasm|benign colorectal tumors|benign neoplasm of the large intestine|benign large intestine tumor|benign colorectal tumor|benign tumor of the large intestine|benign tumor of large intestine|neoplasms, colorectal, benign|benign large bowel neoplasm|benign colorectal neoplasms MONDO:0021445 benign neoplasm of oral cavity biolink:Disease mondo UMLS:C0347197|NCIT:C7607|SCTID:419645003|ICD9:210.4 A benign neoplasm that involves the oral cavity. NCIT:C7607|UMLS:C0347197|SNOMEDCT:419645003 http://purl.obolibrary.org/obo/MONDO_0021445 benign neoplasm of the oral cavity|benign neoplasm of the mouth|benign oral cavity tumor|benign tumor of the oral cavity|benign neoplasm of mouth|oral cavity benign neoplasm|benign tumor of oral cavity|benign mouth tumor|benign mouth neoplasm|benign tumor of the mouth|benign oral cavity neoplasm|benign tumor of mouth GO:0100020 obsolete regulation of transport by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates transport. http://purl.obolibrary.org/obo/GO_0100020 GO:0100021 obsolete regulation of iron ion transport by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates iron ion transport. http://purl.obolibrary.org/obo/GO_0100021 regulation of iron ion import by transcription from RNA polymerase II promoter MONDO:0021446 benign neoplasm of epiglottis biolink:Disease mondo NCIT:C4606|SCTID:92089006|UMLS:C0347236 A benign neoplasm that involves the epiglottis. UMLS:C0347236|NCIT:C4606|SNOMEDCT:92089006 http://purl.obolibrary.org/obo/MONDO_0021446 epiglottis benign neoplasm|benign Epiglottis neoplasm|benign epiglottic neoplasm|benign tumor of Epiglottis|benign tumor of the Epiglottis|benign Epiglottis tumor|benign epiglottic tumor|benign neoplasm of the Epiglottis GO:0100023 obsolete regulation of meiotic nuclear division by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates meiotic nuclear division. http://purl.obolibrary.org/obo/GO_0100023 MONDO:0008489 sternum, premature obliteration of sutures of biolink:Disease mondo OMIM:184800 http://identifiers.org/omim/184800 http://purl.obolibrary.org/obo/MONDO_0008489 sternum, premature obliteration of sutures of GO:0100024 obsolete regulation of carbohydrate metabolic process by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates carbohydrate metabolic process. http://purl.obolibrary.org/obo/GO_0100024 MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome biolink:Disease mondo OMIM:184705|Orphanet:3186|UMLS:C1866649|GARD:0002727|ICD10:Q87.8|MESH:C566655|SCTID:716233007 Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. UMLS:C1866649|ORPHA:3186|SNOMEDCT:716233007|http://identifiers.org/omim/184705|MESH:C566655 http://purl.obolibrary.org/obo/MONDO_0008488 STEINFELD syndrome|Steinfeld syndrome|holoprosencephaly radial heart renal anomalies gard_rare|ordo_malformation_syndrome NCBITaxon:1870884 Clostridioides organism taxon mondo PMID:27370902|GC_ID:11|PMID:27902176 http://purl.obolibrary.org/obo/NCBITaxon_1870884 GO:0100025 obsolete negative regulation of cellular amino acid biosynthetic process by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates cellular amino acid biosynthetic process. http://purl.obolibrary.org/obo/GO_0100025 MONDO:0008487 polycystic ovary syndrome biolink:Disease mondo SCTID:69878008|ICD10:E28.2|NCIT:C26862|UMLS:C0032460|MESH:D011085|COHD:195501|OMIM:184700|ICD9:256.4|DOID:11612|EFO:0000660 A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. MESH:D011085|DOID:11612|NCIT:C26862|SNOMEDCT:69878008|UMLS:C0032460|http://identifiers.org/omim/184700 http://purl.obolibrary.org/obo/MONDO_0008487 PCOS1|polycystic ovary syndrome 1; PCOS1|polycystic ovary syndrome 1|multicystic ovaries|polycystic ovarian disease|polycystic ovary|Stein-Leventhal syndrome|hyperandrogenemia|PCOS|Pcos|Stein-Leventhal synd.|polycystic ovary syndrome|polycystic ovaries|Pco1 GO:0100026 positive regulation of DNA repair by transcription from RNA polymerase II promoter biolink:OntologyClass mondo Any transcription from RNA polymerase II promoter process that positively regulates DNA repair. http://purl.obolibrary.org/obo/GO_0100026 MONDO:0008486 steatocystoma multiplex-natal teeth syndrome biolink:Disease mondo OMIM:184510|UMLS:C1866650|Orphanet:3184|GARD:0005004|ICD10:L72.2|MESH:C537487 The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth. UMLS:C1866650|ORPHA:3184|http://identifiers.org/omim/184510|MESH:C537487 http://purl.obolibrary.org/obo/MONDO_0008486 STEATOCYSTOMA multiplex with NATAL teeth|Natal teeth and steatocystoma multiplex ordo_malformation_syndrome MONDO:0008485 sebocystomatosis biolink:Disease mondo SCTID:109433009|OMIM:184500|Orphanet:841|ICD10:L72.2|UMLS:C0259771|UMLS:C3671377|GARD:0005003 Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities. ORPHA:841|UMLS:C0259771|UMLS:C3671377|http://identifiers.org/omim/184500|SNOMEDCT:109433009 http://purl.obolibrary.org/obo/MONDO_0008485 Steatocystoma multiplex|multiplex steatocystoma|STEATOCYSTOMA multiplex|sebaceous cysts, multiple|multiple sebaceous cysts ordo_disease MONDO:0008484 stapes ankylosis with broad thumbs and toes biolink:Disease mondo SCTID:719305006|ICD10:Q87.8|OMIM:184460|Orphanet:140917|UMLS:C1866656 Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. SNOMEDCT:719305006|UMLS:C1866656|http://identifiers.org/omim/184460|ORPHA:140917 http://purl.obolibrary.org/obo/MONDO_0008484 Teunissen-Cremers syndrome|ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly|stapes ankylosis with BROAD thumb and toes|stapes ankylosis syndrome without symphalangism ordo_malformation_syndrome MONDO:0008483 stuttering, familial persistent, 1 biolink:Disease mondo OMIM:184450 http://identifiers.org/omim/184450 http://purl.obolibrary.org/obo/MONDO_0008483 stuttering, familial persistent, 1|stammering|stuttering, familial persistent, 1; STUT1|STUT1 MONDO:0008482 Sprengel deformity (disease) biolink:Disease mondo ICD10:Q74.0|SCTID:79120002|MESH:C535802|MedDRA:10010455|Orphanet:3181|HP:0000912|GARD:0007693|OMIM:184400 MESH:C535802|SNOMEDCT:79120002|ORPHA:3181|UMLS:C0152438|http://identifiers.org/omim/184400|MEDDRA:10010455 http://purl.obolibrary.org/obo/MONDO_0008482 Sprengel's deformity|Sprengel's shoulder|congenital elevation of the scapula|congenital upward displacement of the scapula|Sprengel deformity|high scapula ordo_morphological_anomaly MONDO:0008481 spondylosis, cervical biolink:Disease mondo OMIM:184300|UMLS:C1384641|SCTID:387800004 UMLS:C1384641|http://identifiers.org/omim/184300|SNOMEDCT:387800004 http://purl.obolibrary.org/obo/MONDO_0008481 spondylosis, cervical MONDO:0008480 odontochondrodysplasia biolink:Disease mondo OMIM:184260|ICD10:Q78.8|SCTID:717823001|Orphanet:166272|UMLS:CN200045|GARD:0008717 Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. ORPHA:166272|http://identifiers.org/omim/184260|SNOMEDCT:717823001|UMLS:CN200045 http://purl.obolibrary.org/obo/MONDO_0008480 spondylometaphyseal dysplasia with dentinogenesis imperfecta|chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome|Goldblatt chondrodysplasia|odontochondrodysplasia|ODCD|Goldblatt syndrome ordo_malformation_syndrome NCBITaxon:7742 Vertebrata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata|vertebrates|vertebrates MONDO:0021436 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021436 HGNC:18568 HSFY1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18568 MONDO:0021437 lipoma of stomach biolink:Disease mondo UMLS:C1333777|SCTID:695751021000132104|NCIT:C5258 A lipoma that involves the stomach. SNOMEDCT:695751021000132104|NCIT:C5258|UMLS:C1333777 http://purl.obolibrary.org/obo/MONDO_0021437 stomach lipoma|lipoma of the stomach|gastric lipoma MONDO:0021439 benign neoplasm of pituitary gland biolink:Disease mondo NCIT:C4782|UMLS:C0496901|SCTID:92296004|ICD10:D35.2 A benign neoplasm that involves the pituitary gland. SNOMEDCT:92296004|NCIT:C4782|UMLS:C0496901 http://purl.obolibrary.org/obo/MONDO_0021439 pituitary gland benign neoplasm|benign pituitary neoplasm|benign pituitary gland neoplasm|benign neoplasm of the pituitary gland|pituitary tumor, benign|benign pituitary gland tumor|benign tumor of the pituitary gland|benign neoplasm of the pituitary|benign neoplasm of pituitary|benign tumor of pituitary gland|pituitary neoplasms, benign|benign tumor of the pituitary|benign pituitary tumor|benign tumor of pituitary MONDO:0021431 squamous cell carcinoma of buccal mucosa biolink:Disease mondo NCIT:C4040|SCTID:254437001|UMLS:C0280299 A squamous cell carcinoma that involves the buccal mucosa. NCIT:C4040|SNOMEDCT:254437001|UMLS:C0280299 http://purl.obolibrary.org/obo/MONDO_0021431 scc of the buccal mucosa|scc of buccal mucosa|squamous cell carcinoma of the buccal mucosa|buccal mucosa squamous cell carcinoma MONDO:0021433 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021433 MONDO:0021434 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021434 MONDO:0008459 spinocerebellar atrophy with pupillary paralysis biolink:Disease mondo MESH:C566668|UMLS:C1866746|OMIM:183100 http://identifiers.org/omim/183100|MESH:C566668|UMLS:C1866746 http://purl.obolibrary.org/obo/MONDO_0008459 spinocerebellar atrophy with pupillary paralysis GO:0100032 obsolete positive regulation of phospholipid biosynthetic process by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates phospholipid biosynthetic process. http://purl.obolibrary.org/obo/GO_0100032 MONDO:0008458 spinocerebellar ataxia type 2 biolink:Disease mondo UMLS:C0752121|NCIT:C148315|DOID:0050955|DOID:0060204|GARD:0004072|Orphanet:98756|ICD10:G11.2|SCTID:715751004|OMIM:183090 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. http://identifiers.org/omim/183090|UMLS:C0752121|ORPHA:98756|DOID:0050955|DOID:0060204|SNOMEDCT:715751004|NCIT:C148315 http://purl.obolibrary.org/obo/MONDO_0008458 spinocerebellar ataxia Cuban type|amyotrophic lateral sclerosis 13|spinocerebellar atrophy 2|spinocerebellar ataxia 2|spinocerebellar ataxia type 2|SCA2|spinocerebellar ataxia with slow eye movements|olivopontocerebellar atrophy, Holguin type|spinocerebellar ataxia 2; SCA2|amyotrophic lateral sclerosis, susceptibility to, 13|Wadia-swami syndrome|spinocerebellar Degeneration with slow eye movements|ATXN2 autosomal dominant cerebellar ataxia type I|amyotrophic lateral sclerosis type 13|olivopontocerebellar atrophy 2|ALS13|cerebellar Degeneration with slow eye movements|Wadia swami syndrome|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2|OPCA2|spinocerebellar ataxia, Cuban type|olivopontocerebellar atrophy Holguin type|SCA 2 ordo_disease|predisposition MONDO:0008457 spinocerebellar ataxia type 6 biolink:Disease mondo DOID:0050956|UMLS:C0752124|NCIT:C142838|OMIM:183086|GARD:0010351|SCTID:715752006|ICD10:G11.2|Orphanet:98758 Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. http://identifiers.org/omim/183086|UMLS:C0752124|ORPHA:98758|DOID:0050956|SNOMEDCT:715752006|NCIT:C142838 http://purl.obolibrary.org/obo/MONDO_0008457 SCA6|spinocerebellar ataxia type 6|spinocerebellar ataxia 6; SCA6|CACNA1A autosomal dominant cerebellar ataxia type III|spinocerebellar ataxia 6|autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A gard_rare|ordo_disease UBERON:0005092 right horn of sinus venosus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005092 sinus venosus right horn MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy biolink:Disease mondo MESH:C566669|OMIM:183050|UMLS:C1866770 http://identifiers.org/omim/183050|MESH:C566669|UMLS:C1866770 http://purl.obolibrary.org/obo/MONDO_0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy MONDO:0008455 spinal muscular atrophy, segmental biolink:Disease mondo OMIM:183020|UMLS:C1866774|MESH:C566670 http://identifiers.org/omim/183020|MESH:C566670|UMLS:C1866774 http://purl.obolibrary.org/obo/MONDO_0008455 spinal muscular atrophy, segmental UBERON:0005090 muscle structure biolink:AnatomicalEntity mondo Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. http://purl.obolibrary.org/obo/UBERON_0005090 muscle element|musculus|muscle GO:0100036 obsolete positive regulation of purine nucleotide biosynthetic process by transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates purine nucleotide biosynthetic process. http://purl.obolibrary.org/obo/GO_0100036 MONDO:0008454 spinal intradural arachnoid cysts biolink:Disease mondo MESH:C536878|GARD:0009701|OMIM:182990 Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery. MESH:C536878|http://identifiers.org/omim/182990 http://purl.obolibrary.org/obo/MONDO_0008454 spinal intradural arachnoid cysts|arachnoid cysts, spinal intradural gard_rare MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant biolink:Disease mondo UMLS:CN200940|OMIM:182980|Orphanet:209335|ICD10:G12.1 ORPHA:209335|UMLS:CN200940|http://identifiers.org/omim/182980 http://purl.obolibrary.org/obo/MONDO_0008453 autosomal dominant adult-onset proximal SMA|SMAFK|spinal muscular atrophy, late-onset, FINKEL type; SMAFK|autosomal dominant adult-onset proximal spinal muscular atrophy|spinal muscular atrophy, proximal, adult, autosomal dominant|Finkel disease|autosomal dominant late-onset spinal muscular atrophy, Finkel type|spinal muscular atrophy, late-onset, FINKEL type|Finkel late-adult type Sma ordo_disease MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type biolink:Disease mondo MESH:C566674|UMLS:C1866783|OMIM:182970 MESH:C566674|http://identifiers.org/omim/182970|UMLS:C1866783 http://purl.obolibrary.org/obo/MONDO_0008452 Fshsma|spinal muscular atrophy, facioscapulohumeral type MONDO:0008451 neuronopathy, distal hereditary motor, type 1 biolink:Disease mondo Orphanet:139518|OMIM:182960|NCIT:C132826|MESH:C566675|UMLS:C1866784|ICD10:G12.2 An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration. MESH:C566675|http://identifiers.org/omim/182960|NCIT:C132826|UMLS:C1866784|ORPHA:139518 http://purl.obolibrary.org/obo/MONDO_0008451 neuronopathy, distal hereditary motor, type I; HMN1|autosomal dominant distal juvenile spinal muscular atrophy type 1|neuronopathy, distal hereditary motor, type I|neuropathy, distal hereditary motor, type 1|Charcot-Marie-Tooth disease, spinal, I|HMN1|spinal muscular atrophy, distal, juvenile, autosomal dominant, 1|HMN 1|dHMN1|distal hereditary motor neuronopathy type I|Charcot-Marie-Tooth disease, spinal, 1 ordo_disease MONDO:0008450 spinal arachnoiditis biolink:Disease mondo OMIM:182950|UMLS:C1710146|SCTID:426055002|MESH:C531624|NCIT:C50749 A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor. UMLS:C1710146|http://identifiers.org/omim/182950|NCIT:C50749|MESH:C531624|SNOMEDCT:426055002 http://purl.obolibrary.org/obo/MONDO_0008450 arachnoiditis, spinal|spinal arachnoiditis HGNC:18539 STX1B biolink:OntologyClass mondo http://identifiers.org/hgnc/18539 UBERON:0005096 descending thin limb biolink:AnatomicalEntity mondo The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. http://purl.obolibrary.org/obo/UBERON_0005096 thin descending limb of the loop of Henle|pars descendens (tubulus attenuatus)|descending limb of Henle's loop|thin descending limb of loop of Henle|thin descending loop of Henle|loop of Henle thin descending limb|descending limb of loop of Henle|loop of Henle descending thin limb|descending thin limb of loop of Henle|thin descending limb UBERON:0005095 kidney rudiment biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0005095 kidney anlage MONDO:0021427 squamous cell carcinoma of lip biolink:Disease mondo SCTID:255071008|NCIT:C4042|UMLS:C0280302|Orphanet:502366 A squamous cell carcinoma that involves the lip. UMLS:C0280302|NCIT:C4042|SNOMEDCT:255071008|ORPHA:502366 http://purl.obolibrary.org/obo/MONDO_0021427 lip squamous cell carcinoma|scc of the Lip|scc of Lip|lip scc|squamous cell carcinoma of the Lip ordo_disease MONDO:0021429 squamous cell carcinoma of floor of mouth biolink:Disease mondo SCTID:276954004|NCIT:C4041|UMLS:C0280300 A squamous cell carcinoma that involves the mouth floor. UMLS:C0280300|NCIT:C4041|SNOMEDCT:276954004 http://purl.obolibrary.org/obo/MONDO_0021429 squamous cell carcinoma of the floor of mouth|mouth floor squamous cell carcinoma|scc of floor of mouth|scc of the floor of mouth|floor of mouth squamous cell carcinoma|floor of mouth scc MONDO:0021420 polyp of vocal cord biolink:Disease mondo UMLS:C0042929|SCTID:9078005|NCIT:C3440 A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. NCIT:C3440|SNOMEDCT:9078005|UMLS:C0042929 http://purl.obolibrary.org/obo/MONDO_0021420 laryngeal vocal fold polyp|vocal cord polyp|polyp of the vocal cord NCBITaxon:43987 Geotrichum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43987 MONDO:0021422 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021422 NCBITaxon:7711 Chordata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7711 chordates|chordates MONDO:0021424 hemangiopericytoma of skin biolink:Disease mondo NCIT:C4492|UMLS:C0346084|SCTID:254796009 A hemangiopericytoma that involves the zone of skin. SNOMEDCT:254796009|NCIT:C4492|UMLS:C0346084 http://purl.obolibrary.org/obo/MONDO_0021424 hemangiopericytoma of the skin|skin hemangiopericytoma|zone of skin hemangiopericytoma MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome biolink:Disease mondo Orphanet:168443|MESH:C535783|ICD10:Q77.7|UMLS:C1866728|GARD:0010101|OMIM:183849 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. http://identifiers.org/omim/183849|MESH:C535783|UMLS:C1866728|ORPHA:168443 http://purl.obolibrary.org/obo/MONDO_0008469 Whyte Petersen McAlister syndrome|Whyte syndrome|spondyloepimetaphyseal dysplasia with hypotrichosis ordo_disease UBERON:0005082 tube lumen biolink:AnatomicalEntity mondo A hole in a tube[GO]. http://purl.obolibrary.org/obo/UBERON_0005082 UBERON:0005081 ureter ureteric bud biolink:AnatomicalEntity mondo The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. http://purl.obolibrary.org/obo/UBERON_0005081 MONDO:0008468 spondyloarthropathy, susceptibility to, 2 biolink:Disease mondo UMLS:C1866738|OMIM:183840 http://identifiers.org/omim/183840|UMLS:C1866738 http://purl.obolibrary.org/obo/MONDO_0008468 spondyloarthropathy, susceptibility to, 2; SPDA2|spondyloarthropathy, susceptibility to, 2|SPDA2 predisposition NCBITaxon:2547934 Blastocystidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2547934 MONDO:0008467 Czeizel-Losonci syndrome biolink:Disease mondo GARD:0004969|MESH:C566662|Orphanet:2437|ICD10:Q87.8|OMIM:183802|UMLS:C1866739 Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987. MESH:C566662|http://identifiers.org/omim/183802|UMLS:C1866739|ORPHA:2437 http://purl.obolibrary.org/obo/MONDO_0008467 split hand urinary anomalies spina bifida|split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects|split hand with obstructive uropathy, spina bifida and diaphragmatic defects|split hand-urinary anomalies-spina bifida syndrome ordo_malformation_syndrome UBERON:0005080 metanephric ureteric bud biolink:AnatomicalEntity mondo The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005080 MONDO:0008466 Karsch-Neugebauer syndrome biolink:Disease mondo Orphanet:2329|ICD10:Q87.2|GARD:0004967|SCTID:722032005|MESH:C537319|UMLS:C1866740|OMIM:183800 Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. MESH:C537319|SNOMEDCT:722032005|http://identifiers.org/omim/183800|UMLS:C1866740|ORPHA:2329 http://purl.obolibrary.org/obo/MONDO_0008466 Nystagmus-split hand syndrome|split hand/split foot-nystagmus syndrome|split hand split foot nystagmus|KNS|split hand nystagmus syndrome|Karsch-Neugebauer syndrome|split-hand with congenital NYSTAGMUS, fundal changes, and cataracts ordo_malformation_syndrome MONDO:0008465 Patterson-Stevenson-Fontaine syndrome biolink:Disease mondo Orphanet:2439|ICD10:Q87.0|SCTID:724069009|UMLS:C1866741|GARD:0004260|OMIM:183700 Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. http://identifiers.org/omim/183700|UMLS:C3489790|SNOMEDCT:724069009|UMLS:C1866741|ORPHA:2439 http://purl.obolibrary.org/obo/MONDO_0008465 split-foot deformity with ectrodactyly and mandibulofacial dysostosis|Patterson Stevenson Fontaine syndrome|split-foot deformity with mandibulofacial dysostosis|Patterson-Stevenson syndrome|split foot deformity-mandibulofacial dysostosis syndrome|Patterson-Stevenson-Fontaine syndrome gard_rare|ordo_malformation_syndrome MONDO:0008464 split hand-foot malformation 1 biolink:Disease mondo ICD10:Q71.6|OMIM:183600|DOID:0090021|UMLS:C2931019|GARD:0007685|NCIT:C75045 Split-hand/foot malformation mapped to chromosome 7q21.3 NCIT:C75045|http://identifiers.org/omim/183600|DOID:0090021|UMLS:C2931019 http://purl.obolibrary.org/obo/MONDO_0008464 ectrodactyly|split-hand/foot deformity 1|split-hand/foot malformation type 1|split hand-foot malformation type 1|split-hand/foot malformation 1; SHFM1|SHFD1|SHFM1|split-hand deformity|split-hand/foot malformation 1|split-hand/foot malformation 1 with or without deafness MONDO:0008463 split-hand and split-foot with hypodontia biolink:Disease mondo MESH:C566665|OMIM:183500|UMLS:C1866742 http://identifiers.org/omim/183500|MESH:C566665|UMLS:C1866742 http://purl.obolibrary.org/obo/MONDO_0008463 split-hand and split-foot with hypodontia MONDO:0008462 split lower lip biolink:Disease mondo OMIM:183400 http://identifiers.org/omim/183400 http://purl.obolibrary.org/obo/MONDO_0008462 split lower lip|split Lower type lip MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells biolink:Disease mondo OMIM:183350|UMLS:C1866744|MESH:C566666 MESH:C566666|UMLS:C1866744|http://identifiers.org/omim/183350 http://purl.obolibrary.org/obo/MONDO_0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells UBERON:0005089 sweat gland placode biolink:AnatomicalEntity mondo An sweat gland placode is a thickening of the ectoderm that will give rise to the sweat gland bud[GO]. http://purl.obolibrary.org/obo/UBERON_0005089 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome biolink:Disease mondo OMIM:183300|GARD:0004963|Orphanet:2063|SCTID:726724005|ICD10:Q87.8|UMLS:C1866745|MESH:C537318 Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. UMLS:C1866745|SNOMEDCT:726724005|ORPHA:2063|http://identifiers.org/omim/183300|MESH:C537318 http://purl.obolibrary.org/obo/MONDO_0008460 splenogonadal fusion limb defects syndrome|splenogonadal fusion limb defects micrognatia|SGFLD syndrome|splenogonadal fusion limb defect syndrome|Sgfld syndrome|splenogonadal fusion with limb defects and micrognathia ordo_malformation_syndrome UBERON:0005088 sebaceous gland placode biolink:AnatomicalEntity mondo A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. http://purl.obolibrary.org/obo/UBERON_0005088 UBERON:0005087 tooth placode biolink:AnatomicalEntity mondo An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. http://purl.obolibrary.org/obo/UBERON_0005087 dental anlage|tooth primordium|odontogenic placode|tooth germ|tooth anlage|dental placode|dental primordium UBERON:0005086 hair follicle placode biolink:AnatomicalEntity mondo A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. http://purl.obolibrary.org/obo/UBERON_0005086 hair peg|hair gem|hair placode|vibrissa placode|hair germ UBERON:0005085 ectodermal placode biolink:AnatomicalEntity mondo An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] http://purl.obolibrary.org/obo/UBERON_0005085 epithelial placode MONDO:0021416 polyp of gallbladder biolink:Disease mondo NCIT:C3909|SCTID:197433003|UMLS:C0262493 A polyp that involves the gall bladder. SNOMEDCT:197433003|UMLS:C0262493|NCIT:C3909 http://purl.obolibrary.org/obo/MONDO_0021416 polyp of the gallbladder|gallbladder polyp|gall bladder polyp MONDO:0021418 polyp of ethmoidal sinus biolink:Disease mondo SCTID:23966000|UMLS:C0264248|NCIT:C3932|ICD9:471.8 A polyp that involves the ethmoid sinus. NCIT:C3932|UMLS:C0264248|SNOMEDCT:23966000 http://purl.obolibrary.org/obo/MONDO_0021418 polyp of ethmoid sinus|polyp of the ethmoidal sinus|ethmoidal sinus polyp|ethmoid sinus polyp|ethmoidal polyp|polyp of the ethmoid sinus HGNC:18540 CPT1C biolink:OntologyClass mondo http://identifiers.org/hgnc/18540 GO:0006704 glucocorticoid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. http://purl.obolibrary.org/obo/GO_0006704 glucocorticoid anabolism|glucocorticoid synthesis|glucocorticoid formation|glucocorticoid biosynthesis HGNC:3519 EYA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3519 HGNC:3518 EXTL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3518 UBERON:0005111 metanephric pyramid biolink:AnatomicalEntity mondo Metanephric pyramids are the conical masses that constitute the renal medulla in a metanephros; they contain the loops of Henle and the medullary collecting ducts[GO]. http://purl.obolibrary.org/obo/UBERON_0005111 UBERON:0005110 metanephric nephron biolink:AnatomicalEntity mondo A metanephric nephron is the functional unit of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005110 UBERON:0007778 umbilical artery endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a umbilical artery. http://purl.obolibrary.org/obo/UBERON_0007778 UBERON:0007779 transudate biolink:AnatomicalEntity mondo Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces http://purl.obolibrary.org/obo/UBERON_0007779 plasma ultrafiltrate HP:0003468 Abnormal vertebral morphology biolink:PhenotypicFeature mondo SNOMEDCT_US:205043005|UMLS:C4020840|SNOMEDCT_US:74877002|UMLS:C4020839|Fyler:4108|UMLS:C0158775 An abnormality of one or more of the vertebrae. http://purl.obolibrary.org/obo/HP_0003468 Abnormal vertebral bodies|Vertebral anomalies|Abnormal vertebrae|Multiple vertebral anomalies|Abnormality of the vertebrae HGNC:3522 EYA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/3522 UBERON:0005117 metanephric distal convoluted tubule biolink:AnatomicalEntity mondo The metanephric distal convoluted tubule is a portion of the metanephric nephron tubule that connects the metanephric loop of Henle to the collecting duct[GO]. http://purl.obolibrary.org/obo/UBERON_0005117 UBERON:0007771 epidermis gland biolink:AnatomicalEntity mondo A gland that is part of a epidermis. http://purl.obolibrary.org/obo/UBERON_0007771 gland of epidermis|epidermal gland UBERON:0005116 metanephric descending thin limb biolink:AnatomicalEntity mondo It extends to the tip of the metanephric loop of Henle[GO]. http://purl.obolibrary.org/obo/UBERON_0005116 UBERON:0007772 scrotal sweat biolink:AnatomicalEntity mondo Any portion of sweat that is produced by a sweat gland of the scrotum. http://purl.obolibrary.org/obo/UBERON_0007772 sweat of scrotal sac|scrotum sweat|sweat of scrotum UBERON:0005115 metanephric cortical collecting duct biolink:AnatomicalEntity mondo The metanephric cortical collecting duct is the portion of the metanephric collecting duct that resides in the renal cortex[GO]. http://purl.obolibrary.org/obo/UBERON_0005115 UBERON:0007773 scrotal sweat gland biolink:AnatomicalEntity mondo Any sweat gland that is part of a scrotum. http://purl.obolibrary.org/obo/UBERON_0007773 GO:0006706 steroid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/GO_0006706 steroid breakdown|steroid catabolism|steroid degradation GO:0006707 cholesterol catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/GO_0006707 cholesterol breakdown|cholesterol degradation|cholesterol catabolism UBERON:0005113 metanephric cortex mesenchyme biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005113 NCBITaxon:90339 Rhinosporidium seeberi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_90339 NCBITaxon:90338 Rhinosporidium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_90338 HGNC:3529 F11 biolink:OntologyClass mondo http://identifiers.org/hgnc/3529 HGNC:3528 F10 biolink:OntologyClass mondo http://identifiers.org/hgnc/3528 HGNC:3527 EZH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3527 NCBITaxon:7776 Gnathostomata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata|jawed vertebrates HGNC:18647 RTN4IP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18647 HP:0003470 Paralysis biolink:PhenotypicFeature mondo MSH:D010243|SNOMEDCT_US:44695005|UMLS:C0522224 Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. http://purl.obolibrary.org/obo/HP_0003470 Paralysis|Inability to move UBERON:0005109 metanephric smooth muscle tissue biolink:AnatomicalEntity mondo Any smooth muscle tissue that is part of a metanephros. http://purl.obolibrary.org/obo/UBERON_0005109 HGNC:3535 F2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3535 UBERON:0005108 metanephric epithelium biolink:AnatomicalEntity mondo An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. http://purl.obolibrary.org/obo/UBERON_0005108 HGNC:3534 F13B biolink:OntologyClass mondo http://identifiers.org/hgnc/3534 UBERON:0005106 metanephric tubule biolink:AnatomicalEntity mondo A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005106 HP:0003474 Sensory impairment biolink:PhenotypicFeature mondo SNOMEDCT_US:398026008|SNOMEDCT_US:59073000|MSH:D006987|SNOMEDCT_US:397974008|UMLS:C0020580 An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. http://purl.obolibrary.org/obo/HP_0003474 Hypoaesthesia|Hypoesthesia HP:0003473 Fatigable weakness biolink:PhenotypicFeature mondo UMLS:C0947912 A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. http://purl.obolibrary.org/obo/HP_0003473 Myasthenia|Fatigable weakness of limb muscles|Myasthenic weakness|Proximal muscle weakness due to defect at the neuromuscular junction|Generalized muscle weakness due to defect at the neuromuscular junction HGNC:3531 F13A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3531 UBERON:0007762 metatarsophalangeal joint of pedal digit 5 biolink:AnatomicalEntity mondo A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 5. http://purl.obolibrary.org/obo/UBERON_0007762 metatarsophalangeal joint of little toe|metatarsophalangeal joint of fifth toe|metatarsophalangeal joint of pedal digit V|metatarsophalangeal joint of fifth digit of foot HGNC:3530 F12 biolink:OntologyClass mondo http://identifiers.org/hgnc/3530 UBERON:0005103 mesonephric epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a mesonephros [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005103 HGNC:18640 LDLRAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18640 HGNC:18618 LRRK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18618 UBERON:0032748 sacral spinal cord ventral horn biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0032748 sacral spinal cord ventral horn|sacral spinal cord anterior horn HGNC:3546 F8 biolink:OntologyClass mondo http://identifiers.org/hgnc/3546 HGNC:3544 F7 biolink:OntologyClass mondo http://identifiers.org/hgnc/3544 UBERON:0007750 metatarsophalangeal joint of pedal digit 1 biolink:AnatomicalEntity mondo A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 1. http://purl.obolibrary.org/obo/UBERON_0007750 metatarsophalangeal joint of great toe|first metatarsophalangeal joint|metatarsophalangeal joint of first toe|metatarsophalangeal joint of first digit of foot|metatarsophalangeal joint of pedal digit I|metatarsophalangeal joint of big toe HGNC:3542 F5 biolink:OntologyClass mondo http://identifiers.org/hgnc/3542 NCBITaxon:1776223 Gorgoderoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1776223 UBERON:0007747 metacarpophalangeal joint of manual digit 5 biolink:AnatomicalEntity mondo A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 5. http://purl.obolibrary.org/obo/UBERON_0007747 metacarpophalangeal joint of manual digit V|metacarpophalangeal joint of fifth digit of hand|metacarpophalangeal joint of little finger|metacarpophalangeal joint of fifth finger|metacarpo-phalangeal joint of digit 5 of fore-paw|metacarpophalangeal joint of digit 5 HGNC:18625 FKBP14 biolink:OntologyClass mondo http://identifiers.org/hgnc/18625 HGNC:18626 IFT27 biolink:OntologyClass mondo http://identifiers.org/hgnc/18626 HGNC:18623 COG8 biolink:OntologyClass mondo http://identifiers.org/hgnc/18623 HGNC:18621 COG6 biolink:OntologyClass mondo http://identifiers.org/hgnc/18621 HGNC:18622 COG7 biolink:OntologyClass mondo http://identifiers.org/hgnc/18622 HGNC:3553 FAAH biolink:OntologyClass mondo http://identifiers.org/hgnc/3553 HGNC:18620 COG4 biolink:OntologyClass mondo http://identifiers.org/hgnc/18620 HGNC:3551 F9 biolink:OntologyClass mondo http://identifiers.org/hgnc/3551 MONDO:0008519 multiple synostoses syndrome 1 biolink:Disease mondo UMLS:C0342282|OMIM:186500|GARD:0003836 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene. UMLS:C0342282|http://identifiers.org/omim/186500 http://purl.obolibrary.org/obo/MONDO_0008519 NOG multiple synostoses syndrome|nog multiple synostoses syndrome|symphalangism brachydactyly syndrome|synostoses, multiple, with brachydactyly|multiple synostoses syndrome type 1|Wl syndrome|synostoses multiple with brachydactyly|multiple synostoses syndrome 1; SYNS1|deafness-symphalangism syndrome of Herrmann|multiple synostoses syndrome 1|SYNS1|symphalangism-brachydactyly syndrome|multiple synostoses syndrome caused by mutation in NOG|multiple synostoses syndrome caused by mutation in nog|facioaudiosymphalangism syndrome MONDO:0008518 calcaneonavicular coalition biolink:Disease mondo ICD9:755.8|MESH:C538156|SCTID:62628008|GARD:0009863|DOID:14762|UMLS:C0175700|OMIM:186400 A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. UMLS:C0175700|DOID:14762|http://identifiers.org/omim/186400|MESH:C538156|SNOMEDCT:62628008 http://purl.obolibrary.org/obo/MONDO_0008518 multiple synostosis syndrome|synostoses, tarsal, carpal, and digital|synostoses, tarsal, carpal and digital|calcaneonavicular coalition MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome biolink:Disease mondo GARD:0005090|Orphanet:3259|OMIM:186350|UMLS:C1861347|MESH:C566091 http://identifiers.org/omim/186350|ORPHA:3259|MESH:C566091|UMLS:C1861347 http://purl.obolibrary.org/obo/MONDO_0008517 hallux syndactyly ulnar polydactyly abnormal ear lobes|syndactyly-polydactyly-earlobe syndrome|Spel syndrome ordo_malformation_syndrome MONDO:0008516 syndactyly type 5 biolink:Disease mondo SCTID:719159004|Orphanet:93406|MESH:C538155|OMIM:186300|GARD:0005089|ICD10:Q70.2|ICD10:Q70.0 Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. SNOMEDCT:719159004|ORPHA:93406|http://identifiers.org/omim/186300|MESH:C538155|UMLS:C1861348 http://purl.obolibrary.org/obo/MONDO_0008516 SDTY5|SD5|syndactyly with associated metacarpal and metatarsal fusion|syndactyly, type V; SDTY5|syndactyly, type V|syndactyly, type 5|syndactyly with metacarpal and metatarsal fusion|postaxial syndactyly with metacarpal synostosis gard_rare|ordo_morphological_anomaly MONDO:0008515 syndactyly type 4 biolink:Disease mondo UMLS:C1861355|GARD:0004434|ICD10:Q70.4|Orphanet:93405|OMIM:186200|MESH:C566092|SCTID:719158007 Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). http://identifiers.org/omim/186200|SNOMEDCT:719158007|ORPHA:93405|MESH:C566092|UMLS:C1861355 http://purl.obolibrary.org/obo/MONDO_0008515 LMBR1 non-syndromic syndactyly|syndactyly, type IV; SDTY4|syndactyly, type IV|non-syndromic syndactyly caused by mutation in LMBR1|SDTY4|polysyndactyly, Haas type|polysyndactyly type Haas|Sd4|syndactyly, type 4|Haas type syndactyly ordo_morphological_anomaly|gard_rare MONDO:0008514 syndactyly type 3 biolink:Disease mondo Orphanet:93404|MESH:C538154|ICD10:Q70.1|OMIM:186100|GARD:0005088|UMLS:C1861366|SCTID:715725001 Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers. SNOMEDCT:715725001|http://identifiers.org/omim/186100|ORPHA:93404|MESH:C538154|UMLS:C1861366 http://purl.obolibrary.org/obo/MONDO_0008514 Sdty3|GJA1 non-syndromic syndactyly|syndactyly of fingers 4 and 5|syndactyly, type III|non-syndromic syndactyly caused by mutation in GJA1|Ring and Little finger syndactyly|SD3|syndactyly of fingers four and five|syndactyly, type 3|syndactyly of the ring and little finger gard_rare|ordo_morphological_anomaly MONDO:0008513 synpolydactyly type 1 biolink:Disease mondo ICD10:Q70.0|UMLS:CN203278|OMIM:186000|Orphanet:295195|ICD10:Q70.2 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene. ORPHA:295195|http://identifiers.org/omim/186000|UMLS:CN203278 http://purl.obolibrary.org/obo/MONDO_0008513 HOXD13 non-syndromic synpolydactyly|SPD, Vordingborg type|synpolydactyly, Vordingborg type|synpolydactyly 1; SPD1|non-syndromic synpolydactyly caused by mutation in HOXD13|SD2, Vordingborg type|syndactyly, type 2|synpolydactyly type 1|synpolydactyly 1|SPD1|synpolydactyly with foot anomalies|SD2a ordo_clinical_subtype MONDO:0008512 syndactyly type 1 biolink:Disease mondo ICD10:Q70.3|GARD:0005081|ICD10:Q70.2|SCTID:715723008|ICD10:Q70.1|ICD10:Q70.0|UMLS:C4275033|UMLS:C1861380|OMIM:185900|Orphanet:93402 Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes. SNOMEDCT:715723008|UMLS:C4275033|ORPHA:93402|http://identifiers.org/omim/185900|UMLS:C1861380 http://purl.obolibrary.org/obo/MONDO_0008512 Zygodactyly|Sd1|syndactyly, type 1|SDTY1|chromosome 2q35 DUPLICATION syndrome|craniosynostosis, Philadelphia type ordo_morphological_anomaly MONDO:0008511 proximal symphalangism (disease) biolink:Disease mondo UMLS:C1861385|OMIMPS:185800|KEGG:H00484|HP:0100264|Orphanet:3250|GARD:0008182|DOID:0050788|MESH:C536223|ICD10:Q70.9 Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. DOID:0050788|ORPHA:3250|UMLS:C1861385|MESH:C536223 http://purl.obolibrary.org/obo/MONDO_0008511 symphalangism, Cushing type|Strasburger-Hawkins-Eldridge syndrome|vessel’s syndrome|Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome|hereditary absence of the proximal interphalangeal joints|proximal symphalangism|Cushing's symphalangism|hereditary absence of proximal interphalangeal joints ordo_malformation_syndrome|prototype_pattern CHEBI:32504 phenylalaninate biolink:ChemicalSubstance mondo An aromatic amino-acid anion that is the conjugate base of phenylalanine, arising from deprotonation of the carboxy group. http://purl.obolibrary.org/obo/CHEBI_32504 phenylalaninate|phenylalanine anion|2-amino-3-phenylpropanoate MONDO:0008510 symphalangism with multiple anomalies of hands and feet biolink:Disease mondo SCTID:732955001|OMIM:185750|ICD10:Q74.8|MESH:C566098|GARD:0005077|Orphanet:3246|UMLS:C1861391 Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981. ORPHA:3246|http://identifiers.org/omim/185750|UMLS:C1861391|MESH:C566098|SNOMEDCT:732955001 http://purl.obolibrary.org/obo/MONDO_0008510 symphalangism with multiple anomalies of hands and feet|Learman syndrome ordo_malformation_syndrome|gard_rare CHEBI:32505 phenylalaninium biolink:ChemicalSubstance mondo An alpha-amino-acid cation that is the conjugate acid of phenylalanine, arising from protonation of the amino group. http://purl.obolibrary.org/obo/CHEBI_32505 phenylalaninium|1-carboxy-2-phenylethanaminium|phenylalanine cation UBERON:0005156 reproductive structure biolink:AnatomicalEntity mondo Any anatomical structure that is part of the reproductive system. http://purl.obolibrary.org/obo/UBERON_0005156 reproductive system structure|reproductive system element UBERON:0005154 epithelial cord biolink:AnatomicalEntity mondo A cord of epithelial cells without a lumen and usually several cells thick. http://purl.obolibrary.org/obo/UBERON_0005154 UBERON:0005153 epithelial bud biolink:AnatomicalEntity mondo A bud is a protrusion that forms from an epithelial sheet by localized folding. http://purl.obolibrary.org/obo/UBERON_0005153 UBERON:0005151 metanephric proximal tubule biolink:AnatomicalEntity mondo The metanephric proximal tubule is a metanephric nephron tubule that connects Bowman's capsule to the descending thin limb of the loop of Henle in the metanephros. It has a brush border epithelial morphology[GO]. http://purl.obolibrary.org/obo/UBERON_0005151 NCBITaxon:5152 Ophiostomataceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5152 UBERON:0005158 parenchyma of central nervous system biolink:AnatomicalEntity mondo The functional tissue of the central nervous system consisting of neurons and glial cells. http://purl.obolibrary.org/obo/UBERON_0005158 central nervous system parenchyma|CNS parenchyma|parenchyma of CNS|parenchyma of central nervous system NCBITaxon:5151 Ophiostomatales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5151 UBERON:0005157 epithelial fold biolink:AnatomicalEntity mondo An epithelial sheet bent on a linear axis. http://purl.obolibrary.org/obo/UBERON_0005157 MONDO:0008529 T-cell Subgroups, non-HLA-linked biolink:Disease mondo OMIM:186950 http://identifiers.org/omim/186950 http://purl.obolibrary.org/obo/MONDO_0008529 T-cell Subgroups, non-HLA-linked MONDO:0008528 tear protein, anodal biolink:Disease mondo OMIM:186890|UMLS:C1861283 http://identifiers.org/omim/186890|UMLS:C1861283 http://purl.obolibrary.org/obo/MONDO_0008528 tear protein, anodal MONDO:0008527 tarsal coalition biolink:Disease mondo ICD9:755.67|OMIM:186850|SCTID:27173008 SNOMEDCT:27173008|http://identifiers.org/omim/186850 http://purl.obolibrary.org/obo/MONDO_0008527 tarsal fusion|tarsal coalition MONDO:0008526 talonavicular coalition biolink:Disease mondo MESH:C536895|GARD:0010062|OMIM:186750 MESH:C536895|http://identifiers.org/omim/186750 http://purl.obolibrary.org/obo/MONDO_0008526 talonavicular coalition gard_rare MONDO:0008525 syringomyelia, isolated biolink:Disease mondo OMIM:186700|MESH:C566084 http://identifiers.org/omim/186700|MESH:C566084 http://purl.obolibrary.org/obo/MONDO_0008525 syringomyelia, noncommunicating isolated|syringomyelia, isolated MONDO:0008524 syringomas, multiple biolink:Disease mondo OMIM:186600|MESH:C566085|UMLS:C1861302 http://identifiers.org/omim/186600|UMLS:C1861302|MESH:C566085 http://purl.obolibrary.org/obo/MONDO_0008524 syringomas, multiple MONDO:0008523 Blau syndrome biolink:Disease mondo MedDRA:10071755|UMLS:C1836122|ICD9:714.89|MESH:C538157|ICD9:692.9|SCTID:699861000|OMIM:186580|Orphanet:90340|OMIM:609464|NCIT:C116794|GARD:0000304|Orphanet:90341|DOID:0050678|UMLS:C1861303 Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. UMLS:C1836122|http://identifiers.org/omim/186580|MEDDRA:10071755|MESH:C538157|http://identifiers.org/omim/609464|UMLS:C1861303|ORPHA:90340|ORPHA:90341|SNOMEDCT:699861000|NCIT:C116794|DOID:0050678 http://purl.obolibrary.org/obo/MONDO_0008523 EOS|Blau syndrome|Blau syndrome; BLAUS|granulomatosis, familial juvenile systemic|synovitis, granulomatous, with uveitis and cranial neuropathies|Jabs syndrome|arthrocutaneouveal granulomatosis|granulomatosis, familial, Blau type|sarcoidosis, early-onset|ACUG|BLAUS|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|pediatric granulomatous arthritis|synovitis granulomatous with uveitis and cranial neuropathies|early-onset sarcoidosis gard_rare|ordo_disease MONDO:0008522 synovial chondromatosis, familial, with dwarfism biolink:Disease mondo GARD:0007720|MESH:C566087|OMIM:186575|UMLS:C1861304 http://identifiers.org/omim/186575|MESH:C566087|UMLS:C1861304 http://purl.obolibrary.org/obo/MONDO_0008522 synovial chondromatosis, familial with dwarfism|synovial chondromatosis, familial, with dwarfism gard_rare MONDO:0008521 tarsal-carpal coalition syndrome biolink:Disease mondo OMIM:186570|Orphanet:1412|GARD:0009225|ICD10:Q74.8|DOID:0050789|ICD9:756.9|EFO:0008965|UMLS:C1861305|SCTID:702312009 Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. http://identifiers.org/omim/186570|UMLS:C1861305|ORPHA:1412|SNOMEDCT:702312009|DOID:0050789|MESH:C536943 http://purl.obolibrary.org/obo/MONDO_0008521 TCC|tarsal carpal coalition syndrome|synostosis of talus and calcaneus with short stature|tarsal-carpal coalition syndrome|tarsal-carpal coalition syndrome; TCC ordo_malformation_syndrome|gard_rare MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome biolink:Disease mondo ICD10:Q73.8|UMLS:C1861313|GARD:0000966|SCTID:764437006|MESH:C566090|OMIM:186550|Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. SNOMEDCT:764437006|http://identifiers.org/omim/186550|MESH:C566090|UMLS:C1861313|ORPHA:1275 http://purl.obolibrary.org/obo/MONDO_0008520 brachydactyly-joint dysplasia syndrome|carpal synostosis with dysplastic elbow joints and brachydactyly|LBNBG|Liebenberg syndrome|LIEBENBERG syndrome; LBNBG|brachydactyly with Joint dysplasia|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly|brachydactyly elbow wrist dysplasia gard_rare|ordo_malformation_syndrome UBERON:0005145 metanephric comma-shaped body biolink:AnatomicalEntity mondo The metanephric comma-shaped body is the precursor structure to the metanephric S-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005145 HGNC:3571 ACSL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/3571 UBERON:0005144 metanephric glomerular capillary biolink:AnatomicalEntity mondo This process pertains to the initial formation of a structure from unspecified parts[GO]. http://purl.obolibrary.org/obo/UBERON_0005144 HGNC:18603 COL25A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18603 HGNC:18601 RTN4R biolink:OntologyClass mondo http://identifiers.org/hgnc/18601 HGNC:3579 FAH biolink:OntologyClass mondo http://identifiers.org/hgnc/3579 UBERON:0005148 metanephric S-shaped body biolink:AnatomicalEntity mondo The metanephric S-shaped body is the successor of the metanephric comma-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005148 UBERON:0005147 metanephric renal vesicle biolink:AnatomicalEntity mondo The renal vesicle is the primordial structure of the metanephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO]. http://purl.obolibrary.org/obo/UBERON_0005147 metanephric vesicle HGNC:3573 FADD biolink:OntologyClass mondo http://identifiers.org/hgnc/3573 UBERON:0005146 metanephric nephron tubule biolink:AnatomicalEntity mondo A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005146 NCBITaxon:5125 Hypocreales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5125 HGNC:3583 FANCB biolink:OntologyClass mondo http://identifiers.org/hgnc/3583 UBERON:0005134 metanephric nephron epithelium biolink:AnatomicalEntity mondo The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005134 HGNC:3582 FANCA biolink:OntologyClass mondo http://identifiers.org/hgnc/3582 UBERON:0007798 vascular system biolink:AnatomicalEntity mondo Anatomical system that consists of all blood and lymph vessels. http://purl.obolibrary.org/obo/UBERON_0007798 Gefaesssystem@de UBERON:0005133 metanephric glomerulus vasculature biolink:AnatomicalEntity mondo The metanephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the metanephric glomerulus[GO]. http://purl.obolibrary.org/obo/UBERON_0005133 HGNC:3581 BPTF biolink:OntologyClass mondo http://identifiers.org/hgnc/3581 UBERON:0005130 metanephric loop of Henle biolink:AnatomicalEntity mondo The metanephric loop of Henle is a metanephric nephron tubule that connects the proximal convoluted tubule to the distal convoluted tubule in the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005130 HGNC:3588 FANCG biolink:OntologyClass mondo http://identifiers.org/hgnc/3588 HGNC:3587 FANCF biolink:OntologyClass mondo http://identifiers.org/hgnc/3587 HGNC:3586 FANCE biolink:OntologyClass mondo http://identifiers.org/hgnc/3586 UBERON:0007794 secretion of serous gland biolink:AnatomicalEntity mondo Any fluid produced by a serous gland. http://purl.obolibrary.org/obo/UBERON_0007794 serous gland fluid|serosal fluid|serous fluid UBERON:0005137 metanephric capsule biolink:AnatomicalEntity mondo The metanephric capsule is the tough fibrous layer surrounding the metanephros, covered in a thick layer of perinephric adipose tissue. It provides some protection from trauma and damage[GO]. http://purl.obolibrary.org/obo/UBERON_0005137 UBERON:0005136 metanephric glomerular endothelium biolink:AnatomicalEntity mondo The metanephric glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005136 HGNC:3585 FANCD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3585 HGNC:3584 FANCC biolink:OntologyClass mondo http://identifiers.org/hgnc/3584 UBERON:0005135 metanephric glomerular epithelium biolink:AnatomicalEntity mondo A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005135 MONDO:0008509 distal symphalangism (disease) biolink:Disease mondo OMIM:185700|Orphanet:3248|UMLS:C1861401|MESH:C566099|HP:0100263|ICD10:Q70.9 Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet. http://identifiers.org/omim/185700|MESH:C566099|UMLS:C1861401|ORPHA:3248 http://purl.obolibrary.org/obo/MONDO_0008509 symphalangism, distal|distal symphalangism|Sym2 ordo_morphological_anomaly MONDO:0008508 symphalangism, C. S. Lewis type biolink:Disease mondo MESH:C566100|UMLS:C1861404|OMIM:185650 MESH:C566100|UMLS:C1861404|http://identifiers.org/omim/185650 http://purl.obolibrary.org/obo/MONDO_0008508 symphalangism, C. S. Lewis type|thumbs, stiff n_of_one MONDO:0008507 surface polypeptides, anonymous biolink:Disease mondo OMIM:185610 http://identifiers.org/omim/185610 http://purl.obolibrary.org/obo/MONDO_0008507 Spa5|Spa2|surface polypeptides, anonymous MONDO:0008506 symphalangism of toes biolink:Disease mondo MESH:C566101|OMIM:185600|UMLS:C1861418 MESH:C566101|UMLS:C1861418|http://identifiers.org/omim/185600 http://purl.obolibrary.org/obo/MONDO_0008506 symphalangism of toes MONDO:0008505 surface antigen, glycoprotein 75 biolink:Disease mondo OMIM:185540 http://identifiers.org/omim/185540 http://purl.obolibrary.org/obo/MONDO_0008505 surface antigen, glycoprotein type 75|surface glycoprotein 75|surface antigen, glycoprotein 75 MONDO:0008504 supravalvular aortic stenosis (disease) biolink:Disease mondo HP:0004381|OMIM:185500|DOID:1929|SCTID:268185002|MedDRA:10042598|UMLS:C0003499|ICD10:Q25.3|GARD:0000743|Orphanet:3193 SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. SNOMEDCT:268185002|NCIT:C85176|DOID:1929|UMLS:C1305147|ORPHA:3193|MESH:D021921|MEDDRA:10042598|UMLS:C0003499|http://identifiers.org/omim/185500 http://purl.obolibrary.org/obo/MONDO_0008504 SVAS|supravalvular aortic stenosis; SVAS|supra-valvular aortic stenosis|supravalvar aortic stenosis, Eisenberg type|supravalvular aortic stenosis|aortic supravalvular stenosis ordo_morphological_anomaly MONDO:0008503 Worster-Drought syndrome biolink:Disease mondo GARD:0005598|UMLS:C0796204|SCTID:716335003|Orphanet:3465|MESH:C536747|OMIM:185480|ICD10:G80.8 Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. MESH:C536747|UMLS:C0796204|http://identifiers.org/omim/185480|ORPHA:3465|SNOMEDCT:716335003 http://purl.obolibrary.org/obo/MONDO_0008503 suprabulbar paresis congenital|suprabulbar paresis, congenital|Worster Drought syndrome|Worster-Drought syndrome|congenital suprabulbar paresis ordo_malformation_syndrome|gard_rare MONDO:0008502 sulfhemoglobinemia, congenital biolink:Disease mondo MESH:C566102|UMLS:C1861437|OMIM:185460 http://identifiers.org/omim/185460|MESH:C566102|UMLS:C1861437 http://purl.obolibrary.org/obo/MONDO_0008502 sulfhemoglobinemia, congenital MONDO:0008501 Sturge-Weber syndrome biolink:Disease mondo SCTID:19886006|OMIM:185300|UMLS:CN204001|NCIT:C3391|MedDRA:10042265|MedDRA:10057653|MESH:D013341|Orphanet:3205|ICD9:759.6|GARD:0007706|ICD10:Q85.8|UMLS:C0038505 Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. UMLS:C0038505|UMLS:CN204001|MEDDRA:10057653|MEDDRA:10042265|NCIT:C3391|ORPHA:3205|http://identifiers.org/omim/185300|SNOMEDCT:19886006|MESH:D013341 http://purl.obolibrary.org/obo/MONDO_0008501 Sturge-Weber syndrome|Sturge-Weber-Dimitri syndrome|meningeal capillary angiomatosis|Encephalotrigeminal syndrome|Sturge-Weber disease|Encephalofacial angiomatosis|SWS type III - isolated leptomeningeal angiomas|Sturge Weber syndrome|STURGE-WEBER syndrome; SWS|SWS|SWS type II - Facial angioma alone, no CNS involvement|fourth phacomatosis|Encephalotrigeminal angiomatosis|SWS type I - Facial and leptomeningeal angiomas|Sturge-Weber-Krabbe syndrome|Sturge-Weber-Krabbe angiomatosis|leptomeningeal angiomatosis gard_rare|ordo_malformation_syndrome MONDO:0008500 striae distensae, familial biolink:Disease mondo MESH:C566104|UMLS:C1861447|OMIM:185200 http://identifiers.org/omim/185200|MESH:C566104|UMLS:C1861447 http://purl.obolibrary.org/obo/MONDO_0008500 striae distensae, familial HP:0003498 Disproportionate short stature biolink:PhenotypicFeature mondo UMLS:C0878659|UMLS:C1846797 A kind of short stature in which different regions of the body are shortened to differing extents. http://purl.obolibrary.org/obo/HP_0003498 Short stature, disproportionate|Short stature, severe disproportionate UBERON:0005129 metanephric distal tubule biolink:AnatomicalEntity mondo The metanephric distal tubule is a metanephric nephron tubule that begins at the metanephric macula densa and extends to the metanephric connecting tubule[GO]. http://purl.obolibrary.org/obo/UBERON_0005129 HP:0003496 Increased circulating IgM level biolink:PhenotypicFeature mondo UMLS:C1839972 An abnormally increased level of immunoglobulin M in blood. http://purl.obolibrary.org/obo/HP_0003496 Increased IgM levels|Increased levels of IgM UBERON:0005125 metanephric proximal straight tubule biolink:AnatomicalEntity mondo The metanephric proximal straight tubule is the part of the metanephric descending limb that extends from the metanephric proximal convoluted tubule to the metanephric descending thin tubule[GO]. http://purl.obolibrary.org/obo/UBERON_0005125 UBERON:0005124 metanephric proximal convoluted tubule biolink:AnatomicalEntity mondo The metanephric proximal convoluted tubule is the most proximal portion of the metanephric proximal tubule and extends from the metanephric glomerular capsule to the metanephric proximal straight tubule[GO]. http://purl.obolibrary.org/obo/UBERON_0005124 GO:0016108 tetraterpenoid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving tetraterpenoid compounds, terpenoids with eight isoprene units. http://purl.obolibrary.org/obo/GO_0016108 tetraterpene metabolic process|tetraterpene metabolism|tetraterpenoid metabolism GO:0016101 diterpenoid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units. http://purl.obolibrary.org/obo/GO_0016101 diterpene metabolic process|diterpenoid metabolism|diterpene metabolism GO:0006796 phosphate-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. http://purl.obolibrary.org/obo/GO_0006796 phosphate metabolic process|phosphate metabolism GO:0006793 phosphorus metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolism GO:0006790 sulfur compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/GO_0006790 sulphur metabolism|sulphur metabolic process|sulfur metabolism GO:0016116 carotenoid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving carotenoids, tetraterpenoid compounds in which two units of 4 isoprenoid residues joined head-to-tail are themselves joined tail-to-tail. http://purl.obolibrary.org/obo/GO_0016116 carotenoid metabolism GO:0006768 biotin metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions. http://purl.obolibrary.org/obo/GO_0006768 vitamin H metabolism|vitamin H metabolic process|biotin metabolism|vitamin B7 metabolic process|vitamin B7 metabolism GO:0006766 vitamin metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolism GO:0006767 water-soluble vitamin metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. http://purl.obolibrary.org/obo/GO_0006767 water-soluble vitamin metabolism GO:0006760 folic acid-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a folic acid-containing compound, i.e. any of a group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. http://purl.obolibrary.org/obo/GO_0006760 folate-containing compound metabolic process|vitamin B9 and derivative metabolism|vitamin B9 and derivative metabolic process|folate-containing compound metabolism|folic acid-containing compound metabolism|folic acid and derivative metabolism|folate and derivative metabolism|vitamin M and derivative metabolism|folate and derivative metabolic process|vitamin M and derivative metabolic process|folic acid and derivative metabolic process GO:0090022 regulation of neutrophil chemotaxis biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. http://purl.obolibrary.org/obo/GO_0090022 GO:0090023 positive regulation of neutrophil chemotaxis biolink:OntologyClass mondo Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. http://purl.obolibrary.org/obo/GO_0090023 GO:0090024 negative regulation of neutrophil chemotaxis biolink:OntologyClass mondo Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. http://purl.obolibrary.org/obo/GO_0090024 GO:0006778 porphyrin-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. http://purl.obolibrary.org/obo/GO_0006778 porphyrin metabolism|porphyrin metabolic process GO:0090030 regulation of steroid hormone biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. http://purl.obolibrary.org/obo/GO_0090030 GO:0006775 fat-soluble vitamin metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. http://purl.obolibrary.org/obo/GO_0006775 fat-soluble vitamin metabolism GO:0006776 vitamin A metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. http://purl.obolibrary.org/obo/GO_0006776 vitamin A metabolism GO:0090031 positive regulation of steroid hormone biosynthetic process biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. http://purl.obolibrary.org/obo/GO_0090031 GO:0090032 negative regulation of steroid hormone biosynthetic process biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. http://purl.obolibrary.org/obo/GO_0090032 GO:0006749 glutathione metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle. http://purl.obolibrary.org/obo/GO_0006749 glutathione metabolism|oxidized glutathione reduction GO:0006744 ubiquinone biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/GO_0006744 coenzyme Q8 biosynthetic process|coenzyme Q8 biosynthesis|coenzyme Q9 biosynthetic process|coenzyme Q10 biosynthesis|ubiquinone synthesis|coenzyme Q9 biosynthesis|coenzyme Q10 biosynthetic process|ubiquinone formation|coenzyme Q biosynthetic process|coenzyme Q biosynthesis|ubiquinone biosynthesis|ubiquinone anabolism|coenzyme Q6 biosynthesis|coenzyme Q6 biosynthetic process GO:0006743 ubiquinone metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/GO_0006743 coenzyme Q metabolic process|coenzyme Q metabolism|ubiquinone metabolism UBERON:0007728 interphalangeal joint of pedal digit 5 biolink:AnatomicalEntity mondo An interphalangeal joint of pes that is part of a pedal digit 5. http://purl.obolibrary.org/obo/UBERON_0007728 interphalangeal joint of fifth toe|interphalangeal joint of pedal digit V|interphalangeal joint of fifth digit of foot|interphalangeal joint of little toe HP:0003429 CNS hypomyelination biolink:PhenotypicFeature mondo UMLS:C0544820|UMLS:C4025616|SNOMEDCT_US:111007000 Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. http://purl.obolibrary.org/obo/HP_0003429 hypomyelination UBERON:0007732 interphalangeal joint of manual digit 5 biolink:AnatomicalEntity mondo An interphalangeal joint of manus that is part of a manual digit 5. http://purl.obolibrary.org/obo/UBERON_0007732 interphalangeal joint of fifth digit of hand|interphalangeal joint of manual digit V|interphalangeal joint of little finger|interphalangeal joint of fifth finger UBERON:0007735 metacarpophalangeal joint of manual digit 1 biolink:AnatomicalEntity mondo A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 1. http://purl.obolibrary.org/obo/UBERON_0007735 metacarpo-phalangeal joint of digit 1 of fore-paw|metacarpophalangeal joint of manual digit I|metacarpophalangeal joint of digit 1|metacarpophalangeal joint of thumb|metacarpophalangeal joint of first digit of hand GO:0090087 regulation of peptide transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0090087 GO:0006757 ATP generation from ADP biolink:OntologyClass mondo The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP. http://purl.obolibrary.org/obo/GO_0006757 ADP phosphorylation GO:0006753 nucleoside phosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any phosphorylated nucleoside. http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolism GO:0006754 ATP biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/GO_0006754 ATP anabolism|ATP regeneration|ATP synthesis|ATP biosynthesis|ATP formation UBERON:0007719 bone of reproductive organ biolink:AnatomicalEntity mondo A bone that is part of a reproductive organ. http://purl.obolibrary.org/obo/UBERON_0007719 baculum|os penis/os clitoris GO:0006750 glutathione biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins. http://purl.obolibrary.org/obo/GO_0006750 glutathione synthesis|glutathione formation|glutathione biosynthesis|glutathione anabolism UBERON:0007721 interphalangeal joint of pes biolink:AnatomicalEntity mondo The interphalangeal articulations of the foot (articulations of the phalanges) are ginglymoid joints, and each has a plantar and two collateral ligaments. The arrangement of these ligaments is similar to that in the metatarsophalangeal articulations: the Extensor tendons supply the places of dorsal ligaments. http://purl.obolibrary.org/obo/UBERON_0007721 interphalangeal joint of foot|toe joint|hindlimb digit inter-phalangeal joint|foot interphalangeal joint|interphalangeal joint of toe CHEBI:32594 barium atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_32594 barium|56Ba|Ba|baryum|barium|Barium|bario UBERON:0007722 interphalangeal joint of manus biolink:AnatomicalEntity mondo The interphalangeal articulations of hand are hinge-joints of the phalanges of the hand. There are two sets (except in the thumb): 'proximal interphalangeal joints' (PIP), those between the first (also called proximal) and second (intermediate) phalanges 'distal interphalangeal joints' (DIP), those between the second and third (distal) phalanges A similar group of articulations also function in the toes. http://purl.obolibrary.org/obo/UBERON_0007722 interphalangeal joint of hand|interphalangeal joints of hand|interphalangeal joint of finger|articulationes interphalangeae manus|articulationes digitorum manus|IP joint|articulations of the digits|interphalangeal articulations of hand UBERON:0007723 interphalangeal joint of manual digit 1 biolink:AnatomicalEntity mondo An interphalangeal joint of manus that is part of a manual digit 1. http://purl.obolibrary.org/obo/UBERON_0007723 interphalangeal joint of hand digit 1|interphalangeal joint of thumb|interphalangeal joint of manual digit I|interphalangeal joint of first digit of hand|interphalangeal joint of manual digit 1|interphalangeal joint of pollex UBERON:0007724 interphalangeal joint of pedal digit 1 biolink:AnatomicalEntity mondo An interphalangeal joint of pes that is part of a pedal digit 1. http://purl.obolibrary.org/obo/UBERON_0007724 interphalangeal joint of pedal digit I|interphalangeal joint of big toe|interphalangeal joint of foot digit 1|interphalangeal joint of hallux|interphalangeal joint of first digit of pes|interphalangeal joint of pedal digit 1|interphalangeal joint of great toe|interphalangeal joint of first toe|interphalangeal joint of first digit of foot GO:0006725 cellular aromatic compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0006725 aromatic compound metabolism|aromatic hydrocarbon metabolism|aromatic hydrocarbon metabolic process GO:0006720 isoprenoid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. http://purl.obolibrary.org/obo/GO_0006720 polyterpene metabolic process|polyisoprenoid metabolism|isoprenoid metabolism|polyisoprenoid metabolic process|polyterpene metabolism GO:0006721 terpenoid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups. http://purl.obolibrary.org/obo/GO_0006721 terpenoid metabolism HP:0003401 Paresthesia biolink:PhenotypicFeature mondo UMLS:C0030554|SNOMEDCT_US:91019004|MSH:D010292 Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. http://purl.obolibrary.org/obo/HP_0003401 Pins and needles feeling|Tingling|Paresthesias GO:0090066 regulation of anatomical structure size biolink:OntologyClass mondo Any process that modulates the size of an anatomical structure. http://purl.obolibrary.org/obo/GO_0090066 GO:0090068 positive regulation of cell cycle process biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. http://purl.obolibrary.org/obo/GO_0090068 HGNC:3508 EWSR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3508 GO:0006733 obsolete oxidoreduction coenzyme metabolic process biolink:OntologyClass mondo OBSOLETE. The chemical reactions and pathways involving coenzymes that are required, in addition to an enzyme and a substrate, for an oxidoreductase reaction to proceed. http://purl.obolibrary.org/obo/GO_0006733 oxidoreduction coenzyme metabolism GO:0006732 obsolete coenzyme metabolic process biolink:OntologyClass mondo OBSOLETE. The chemical reactions and pathways involving coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. http://purl.obolibrary.org/obo/GO_0006732 group transfer coenzyme metabolic process|coenzyme and prosthetic group metabolic process|coenzyme and prosthetic group metabolism|group transfer coenzyme metabolism|coenzyme metabolism HP:0003418 Back pain biolink:PhenotypicFeature mondo UMLS:C0004604|SNOMEDCT_US:161891005|MSH:D001416 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. http://purl.obolibrary.org/obo/HP_0003418 Back pain UBERON:0007702 tract of brain biolink:AnatomicalEntity mondo An axon tract that is part of a brain. http://purl.obolibrary.org/obo/UBERON_0007702 brain tract|landmark tracts HGNC:3513 EXT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3513 HGNC:3512 EXT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3512 MONDO:0021373 neoplasm of parietal lobe biolink:Disease mondo NCIT:C5573|SCTID:126956001|UMLS:C1263888 A neoplasm (disease) that involves the parietal lobe. UMLS:C1263888|SNOMEDCT:126956001|NCIT:C5573 http://purl.obolibrary.org/obo/MONDO_0021373 tumor of parietal lobe|parietal lobe neoplasm (disease)|tumor of the parietal lobe|parietal lobe tumor|neoplasm of parietal lobe|parietal lobe neoplasm|neoplasm of the parietal lobe MONDO:0021374 neoplasm of cerebral hemisphere biolink:Disease mondo SCTID:126953009|NCIT:C4874 A neoplasm involving a cerebral hemisphere. NCIT:C4874|SNOMEDCT:126953009 http://purl.obolibrary.org/obo/MONDO_0021374 cerebral hemisphere neoplasm|tumor of cerebral hemisphere|cerebral hemispheric tumor|cerebral neoplasm|tumor of cerebrum|tumor of cerebral hemispheres|tumor of the cerebrum|tumor of the cerebral hemispheres|neoplasm of telencephalon|telencephalon tumor|telencephalon neoplasm (disease)|neoplasm of cerebral hemisphere|cerebral hemisphere tumor|cerebral tumor|cerebral hemispheric neoplasm|neoplasm of cerebrum|neoplasm of cerebral hemispheres|neoplasm of the cerebral hemispheres|cerebral neoplasms|neoplasm of the cerebrum|tumor of telencephalon MONDO:0021375 tumor of duodenum biolink:Disease mondo NCIT:C2995|SCTID:126833009 A neoplasm (disease) that involves the duodenum. NCIT:C2995|SNOMEDCT:126833009 http://purl.obolibrary.org/obo/MONDO_0021375 tumor of duodenum|duodenum neoplasm|duodenal tumor|duodenal neoplasm|neoplasm of the duodenum|duodenum neoplasm (disease)|neoplasm of duodenum|duodenum tumor|tumor of the duodenum|duodenal neoplasm MONDO:0021376 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021376 MONDO:0021377 hypertrophic lichen planus biolink:Disease mondo UMLS:C0023649|SCTID:68266006|NCIT:C34779 A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring. NCIT:C34779|SNOMEDCT:68266006|UMLS:C0023649 http://purl.obolibrary.org/obo/MONDO_0021377 Hypertrophic Lichen Planus|Hypertrophic lichen planus|hypertrophic lichen planus|lichen planus hypertrophicus|Lichen planus hypertrophicus MONDO:0021378 neoplasm of endocardium biolink:Disease mondo NCIT:C5346|SCTID:126731002|ICD9:239.89|UMLS:C1290401 A neoplasm (disease) that involves the endocardium. NCIT:C5346|UMLS:C1290401|SNOMEDCT:126731002 http://purl.obolibrary.org/obo/MONDO_0021378 endocardium neoplasm (disease)|endocardial neoplasm|tumor of the endocardium|neoplasm of endocardium|endocardium tumor|endocardium neoplasm|endocardial tumor|tumor of endocardium|neoplasm of the endocardium MONDO:0021379 neoplasm of epicardium biolink:Disease mondo NCIT:C5347|SCTID:126733004|ICD9:239.89|UMLS:C1290403 A neoplasm (disease) that involves the epicardium. SNOMEDCT:126733004|NCIT:C5347|UMLS:C1290403 http://purl.obolibrary.org/obo/MONDO_0021379 epicardium tumor|tumor of the epicardium|epicardium neoplasm (disease)|tumor of epicardium|epicardial tumor|neoplasm of the epicardium|epicardial neoplasm|neoplasm of epicardium|epicardium neoplasm MONDO:0008399 sarcoidosis, susceptibility to, 1 biolink:Disease mondo OMIM:181000|ICD9:135 Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene. http://identifiers.org/omim/181000 http://purl.obolibrary.org/obo/MONDO_0008399 sarcoidosis, susceptibility to, type 1|susceptibility to sarcoidosis 1|sarcoidosis, susceptibility to, 1|sarcoidosis|HLA-DRB1 sarcoidosis|sarcoidosis, susceptibility to, 1; SS1|SS1|sarcoidosis caused by mutation in HLA-DRB1|Boeck sarcoid predisposition MONDO:0021370 neoplasm of minor salivary gland biolink:Disease mondo NCIT:C4409|SCTID:126798006|UMLS:C0345613 A neoplasm (disease) that involves the minor salivary gland. NCIT:C4409|SNOMEDCT:126798006|UMLS:C0345613 http://purl.obolibrary.org/obo/MONDO_0021370 minor salivary gland neoplasm|neoplasm of minor salivary gland|tumor of minor salivary gland|neoplasm of the minor salivary gland|minor salivary gland neoplasm (disease)|minor salivary gland tumor|tumor of the minor salivary gland MONDO:0008398 salivary substance, Clostridium botulinum type biolink:Disease mondo UMLS:C1867056|OMIM:180950 UMLS:C1867056|http://identifiers.org/omim/180950 http://purl.obolibrary.org/obo/MONDO_0008398 salivary substance, Clostridium botulinum type MONDO:0008397 aplasia of lacrimal and salivary glands biolink:Disease mondo SCTID:715656004|ICD10:Q38.4|OMIM:180920|ICD10:Q10.4|Orphanet:86815 Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. ORPHA:86815|http://identifiers.org/omim/180920|SNOMEDCT:715656004 http://purl.obolibrary.org/obo/MONDO_0008397 aplasia of lacrimal and salivary glands|ALSG|parotid aplasia or hypoplasia|congenital absence of lacrimal puncta and salivary glands|salivary glands, absence of, include|salivary glands, absence of|aplasia of lacrimal and salivary glands; ALSG ordo_disease MONDO:0008396 oculodental syndrome, Rutherfurd type biolink:Disease mondo SCTID:699754008|Orphanet:2709|MESH:C537732|ICD10:Q87.8|GARD:0000212|ICD9:759.89|OMIM:180900|UMLS:C0796140 Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait. UMLS:C0796140|ORPHA:2709|MESH:C537732|SNOMEDCT:699754008|http://identifiers.org/omim/180900 http://purl.obolibrary.org/obo/MONDO_0008396 corneal dystrophy with gum hypertrophy|gingival Hypertrophy with corneal dystrophy|corneal dystrophy with gum Hypertrophy|gingival hypertrophy corneal dystrophy|Rutherfurd syndrome|gingival hypertrophy-corneal dystrophy gard_rare|ordo_malformation_syndrome MONDO:0021372 neoplasm of temporal lobe biolink:Disease mondo UMLS:C1263887|SCTID:126955002|NCIT:C5567 A neoplasm (disease) that involves the temporal lobe. UMLS:C1263887|NCIT:C5567|SNOMEDCT:126955002 http://purl.obolibrary.org/obo/MONDO_0021372 neoplasm of the temporal lobe|tumor of temporal lobe|temporal lobe neoplasm (disease)|temporal lobe neoplasm|neoplasm of temporal lobe|tumor of the temporal lobe|temporal lobe tumor GO:0090206 negative regulation of cholesterol metabolic process biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/GO_0090206 MONDO:0008395 Ruvalcaba syndrome biolink:Disease mondo UMLS:C0265248|GARD:0004748|ICD10:Q87.8|OMIM:180870|SCTID:3073006|Orphanet:3121|ICD9:759.89|MESH:C579395 Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay. ORPHA:3121|MESH:C579395|UMLS:C0265248|SNOMEDCT:3073006|http://identifiers.org/omim/180870 http://purl.obolibrary.org/obo/MONDO_0008395 Ruvalcaba syndrome ordo_malformation_syndrome|gard_rare MONDO:0033362 developmental and epileptic encephalopathy, 53 biolink:Disease mondo OMIM:617389|UMLS:C4479313 http://identifiers.org/omim/617389|UMLS:C4479313 http://purl.obolibrary.org/obo/MONDO_0033362 DEE53|EIEE53|epileptic encephalopathy, early infantile, 53; EIEE53|epileptic encephalopathy, early infantile, 53 MONDO:0033361 developmental and epileptic encephalopathy, 52 biolink:Disease mondo UMLS:C4479236|OMIM:617350 http://identifiers.org/omim/617350|UMLS:C4479236 http://purl.obolibrary.org/obo/MONDO_0033361 epileptic encephalopathy, early infantile, 52; EIEE52|epileptic encephalopathy, early infantile, 52|EIEE52|DEE52 MONDO:0008394 Silver-Russell syndrome biolink:Disease mondo ICD10:Q87.1|GARD:0004870|SCTID:15069006|UMLS:C0175693|DOID:14681|MedDRA:10062282|Orphanet:813|NCIT:C85068|MESH:D056730|ICD9:759.89|OMIMPS:180860 Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry. MESH:D056730|UMLS:C0175693|DOID:14681|ORPHA:813|MEDDRA:10062282|NCIT:C85068|SNOMEDCT:15069006 http://purl.obolibrary.org/obo/MONDO_0008394 Silver Russell syndrome|Silver-Russell dwarfism|Silver-Russell syndrome; SRS|Russell-Silver dwarfism|Silver Russell dwarfism|SRS|Russell-Silver syndrome|Silver-Russell syndrome|Russell Silver syndrome ordo_disease MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations biolink:Disease mondo Orphanet:353277|NCIT:C153290|OMIM:180849|ICD10:Q87.2 Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene. http://identifiers.org/omim/180849|ORPHA:353277|NCIT:C153290 http://purl.obolibrary.org/obo/MONDO_0008393 broad thumbs and great toes, characteristic facies, and mental retardation|RSTS1|broad thumb-hallux syndrome|CREBBP Rubinstein-Taybi syndrome|RSTS|Rubinstein-Taybi syndrome type 1|Rubinstein syndrome|Rubinstein-Taybi syndrome caused by mutation in CREBBP|Rubinstein-Taybi syndrome 1; RSTS1|broad thumbs and great toes, characteristic facies, and intellectual disability|Rubinstein-Taybi syndrome 1 ordo_clinical_subtype MONDO:0008392 Roussy-Levy syndrome biolink:Disease mondo ICD10:G60.0|SCTID:45853006|ICD9:334.3|Orphanet:3115|GARD:0004741|OMIM:180800 SNOMEDCT:45853006|UMLS:C0205713|http://identifiers.org/omim/180800|ORPHA:3115 http://purl.obolibrary.org/obo/MONDO_0008392 Roussy levy hereditary areflexic dystasia|HMSN I|Roussy-levy syndrome|hereditary areflexic dystasia, Roussy-levy type|Roussy levy syndrome|hereditary motor sensory neuropathy I|hereditary areflexic dystasia, Roussy-Lévy type|Roussy-levy disease|Roussy-levy hereditary areflexic dystasia|Charcot-Marie-Tooth disease (variant)|Roussy-Lévy syndrome|Charcot-Marie-Tooth-Roussy-levy disease|hereditary areflexic dystasia ordo_disease GO:0090205 positive regulation of cholesterol metabolic process biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/GO_0090205 MONDO:0008391 Robinow-Sorauf syndrome biolink:Disease mondo MESH:C537183|Orphanet:3106|UMLS:CN203672|OMIM:180750|UMLS:C1867146 UMLS:CN203672|MESH:C537183|UMLS:C1867146|http://identifiers.org/omim/180750|ORPHA:3106 http://purl.obolibrary.org/obo/MONDO_0008391 acrocephalosyndactyly, Robinow-Sorauf type|Robinow-Sorauf syndrome|craniosynostosis-bifid hallux syndrome MONDO:0008390 Rombo syndrome biolink:Disease mondo GARD:0004738|OMIM:180730|MESH:C535870|ICD10:L98.8|SCTID:721904001|Orphanet:3110|UMLS:C1867147 Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. UMLS:C1867147|MESH:C535870|SNOMEDCT:721904001|http://identifiers.org/omim/180730|ORPHA:3110 http://purl.obolibrary.org/obo/MONDO_0008390 Rombo syndrome|vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis gard_rare|ordo_disease MONDO:0033369 developmental and epileptic encephalopathy, 60 biolink:Disease mondo UMLS:CN244549|OMIM:617929 http://identifiers.org/omim/617929|UMLS:CN244549 http://purl.obolibrary.org/obo/MONDO_0033369 epileptic encephalopathy, early infantile, 60|epileptic encephalopathy, early infantile, 60; EIEE60|EIEE60|DEE60 MONDO:0033368 developmental and epileptic encephalopathy, 59 biolink:Disease mondo OMIM:617904|DOID:0080291|UMLS:CN870853 DOID:0080291|http://identifiers.org/omim/617904|UMLS:CN870853 http://purl.obolibrary.org/obo/MONDO_0033368 epileptic encephalopathy, early infantile, 59|DEE59|epileptic encephalopathy, early infantile, 59; EIEE59|EIEE59|infantile epileptic encephalopathy 59 MONDO:0033367 developmental and epileptic encephalopathy, 58 biolink:Disease mondo OMIM:617830|DOID:0080285|UMLS:CN757795 DOID:0080285|http://identifiers.org/omim/617830|UMLS:CN757795 http://purl.obolibrary.org/obo/MONDO_0033367 EIEE58|DEE58|epileptic encephalopathy, early infantile, 58; EIEE58|infantile epileptic encephalopathy 58|epileptic encephalopathy, early infantile, 58 MONDO:0033366 developmental and epileptic encephalopathy, 57 biolink:Disease mondo DOID:0080284|OMIM:617771|UMLS:CN633295 DOID:0080284|UMLS:CN633295|http://identifiers.org/omim/617771 http://purl.obolibrary.org/obo/MONDO_0033366 infantile epileptic encephalopathy 57|DEE57|EIEE57|epileptic encephalopathy, early infantile, 57|epileptic encephalopathy, early infantile, 57; EIEE57 MONDO:0033365 developmental and epileptic encephalopathy, 56 biolink:Disease mondo UMLS:CN477042|OMIM:617665|DOID:0080282 UMLS:CN477042|http://identifiers.org/omim/617665|DOID:0080282 http://purl.obolibrary.org/obo/MONDO_0033365 infantile epileptic encephalopathy 56|DEE56|EIEE56|epileptic encephalopathy, early infantile, 56; EIEE56|epileptic encephalopathy, early infantile, 56 MONDO:0033364 developmental and epileptic encephalopathy, 55 biolink:Disease mondo OMIM:617599|DOID:0080283 http://identifiers.org/omim/617599|DOID:0080283 http://purl.obolibrary.org/obo/MONDO_0033364 DEE55|EIEE55|glycosylphosphatidylinositol biosynthesis defect 14|epileptic encephalopathy, early infantile, 55; EIEE55|infantile epileptic encephalopathy 55|epileptic encephalopathy, early infantile, 55 MONDO:0033363 developmental and epileptic encephalopathy, 54 biolink:Disease mondo UMLS:C4479319|OMIM:617391 http://identifiers.org/omim/617391|UMLS:C4479319 http://purl.obolibrary.org/obo/MONDO_0033363 epileptic encephalopathy, early infantile, 54|EIEE54|epileptic encephalopathy, early infantile, 54; EIEE54|DEE54 MONDO:0021362 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021362 MONDO:0021364 neoplasm of oropharynx biolink:Disease mondo NCIT:C3291|UMLS:C0029295|SCTID:126809003 A neoplasm (disease) that involves the oropharynx. SNOMEDCT:126809003|UMLS:C0029295|NCIT:C3291 http://purl.obolibrary.org/obo/MONDO_0021364 oropharynx neoplasm (disease)|oropharyngeal neoplasms|tumor of oropharynx|neoplasm of oropharynx|oropharynx tumor|neoplasm of the oropharynx|oropharynx neoplasm|tumor of the oropharynx|oropharyngeal neoplasm|oropharyngeal tumor MONDO:0021366 neoplasm of middle ear biolink:Disease mondo NCIT:C4412|SCTID:127006003|ICD9:239.89 A neoplasm (disease) that involves the middle ear. NCIT:C4412|SNOMEDCT:127006003 http://purl.obolibrary.org/obo/MONDO_0021366 middle Ear neoplasm|neoplasm of the middle Ear|middle Ear tumor|neoplasm of middle ear|middle ear neoplasm|middle ear tumor|tumor of middle Ear|tumor of the middle Ear|middle ear neoplasm (disease)|tumor of middle ear MONDO:0021367 leukemia, myeloid, accelerated-phase biolink:Disease mondo EFO:1001755|UMLS:C0023472|MESH:D015465 The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis. UMLS:C0023472|MESH:D015465 http://purl.obolibrary.org/obo/MONDO_0021367 CML AGGRESSIVE|Myelogenous Leukemia, Chronic, Aggressive-Phase|Myeloid Leukemia, Chronic, Aggressive-Phase|Myelogenous Leukemia, Chronic, Aggressive Phase|Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive|Leukemia, Myeloid, Accelerated-Phase|Aggressive-Phase CML|Accelerated Phase CML|Myeloid Leukemia, Chronic, Aggressive Phase|Leukemia, Myelogenous, Aggressive-Phase|Leukemia, Myeloid, Accelerated Phase|Leukemia, Myeloid, Aggressive-Phase|CML ACCELERATED|Aggressive-Phase Chronic Myeloid Leukemia|Leukemia, Myelogenous, Aggressive Phase|Accelerated Phase Chronic Myeloid Leukemia|Accelerated Phase Chronic Granulocytic Leukemia|Myeloid Leukemia, Chronic, Accelerated-Phase|Accelerated Phase Chronic Myelogenous Leukemia|Aggressive-Phase Chronic Myelogenous Leukemia|Accelerated phase chronic myeloid leukemia|Myeloid Leukemia, Chronic, Accelerated Phase|Aggressive-Phase Chronic Myelocytic Leukemia|Accelerated Phase Chronic Myelocytic Leukemia MONDO:0021368 neoplasm of major salivary gland biolink:Disease mondo SCTID:126787005|UMLS:C0345599|NCIT:C4407 A neoplasm (disease) that involves the major salivary gland. UMLS:C0345599|SNOMEDCT:126787005|NCIT:C4407 http://purl.obolibrary.org/obo/MONDO_0021368 major salivary gland neoplasm|tumor of Major salivary gland|tumor of major salivary gland|major salivary gland tumor|tumor of the Major salivary gland|major salivary gland neoplasm (disease)|neoplasm of major salivary gland|neoplasm of the Major salivary gland MONDO:0021360 tumor of parathyroid gland biolink:Disease mondo ICD9:239.7|SCTID:127020005|NCIT:C3313 A neoplasm (disease) that involves the parathyroid gland. NCIT:C3313|SNOMEDCT:127020005 http://purl.obolibrary.org/obo/MONDO_0021360 parathyroid gland neoplasm (disease)|neoplasm of parathyroid gland|parathyroid neoplasm|tumor of the parathyroid gland|parathyroid gland neoplasm|parathyroid gland tumor|tumor of the parathyroid|tumor of parathyroid|parathyroid gland neoplasm|tumor of parathyroid gland|neoplasm of the parathyroid gland|neoplasm of the parathyroid|neoplasm of parathyroid|parathyroid tumor NCBITaxon:1489838 Paracanthomorphacea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1489838 MONDO:0033373 developmental and epileptic encephalopathy, 64 biolink:Disease mondo OMIM:618004|UMLS:CN248512 UMLS:CN248512|http://identifiers.org/omim/618004 http://purl.obolibrary.org/obo/MONDO_0033373 DEE64|EIEE64|epileptic encephalopathy, early infantile, 64; EIEE64|epileptic encephalopathy, early infantile, 64 MONDO:0033372 developmental and epileptic encephalopathy, 63 biolink:Disease mondo OMIM:617976|UMLS:CN244926 http://identifiers.org/omim/617976|UMLS:CN244926 http://purl.obolibrary.org/obo/MONDO_0033372 epileptic encephalopathy, early infantile, 63|epileptic encephalopathy, early infantile, 63; EIEE63|DEE63|EIEE63 MONDO:0033371 developmental and epileptic encephalopathy, 62 biolink:Disease mondo OMIM:617938|UMLS:CN244551 http://identifiers.org/omim/617938|UMLS:CN244551 http://purl.obolibrary.org/obo/MONDO_0033371 epileptic encephalopathy, early infantile, 62; EIEE62|epileptic encephalopathy, early infantile, 62|DEE62|EIEE62 MONDO:0033370 developmental and epileptic encephalopathy, 61 biolink:Disease mondo OMIM:617933|UMLS:CN244550 http://identifiers.org/omim/617933|UMLS:CN244550 http://purl.obolibrary.org/obo/MONDO_0033370 epileptic encephalopathy, early infantile, 61; EIEE61|epileptic encephalopathy, early infantile, 61|EIEE61|DEE61 MONDO:0033375 orofaciodigital syndrome 17 biolink:Disease mondo UMLS:CN902091|OMIM:617926|DOID:0080289 UMLS:CN902091|http://identifiers.org/omim/617926|DOID:0080289 http://purl.obolibrary.org/obo/MONDO_0033375 orofaciodigital syndrome XVII; OFD17|orofaciodigital syndrome XVII|Ofds 17|oral-Facial-digital syndrome, type 17|OFD17 MONDO:0033374 developmental and epileptic encephalopathy, 65 biolink:Disease mondo OMIM:618008|UMLS:CN248516 http://identifiers.org/omim/618008|UMLS:CN248516 http://purl.obolibrary.org/obo/MONDO_0033374 epileptic encephalopathy, early infantile, 65|epileptic encephalopathy, early infantile, 65; EIEE65|EIEE65|DEE65 MONDO:0021351 neoplasm of neck biolink:Disease mondo UMLS:C0027533|ICD9:239.89|NCIT:C3260|SCTID:126635000 A neoplasm (disease) that involves the neck. UMLS:C0027533|SNOMEDCT:126635000|NCIT:C3260 http://purl.obolibrary.org/obo/MONDO_0021351 neck neoplasm (disease)|neoplasm of neck|tumor of neck|neck neoplasms (Including All pharyngeal related neoplasms)|neoplasm of the neck|neck neoplasm|neck tumor|tumor of the neck MONDO:0021353 tumor of uterus biolink:Disease mondo ONCOTREE:UTERUS|ICD9:239.5|SCTID:126908007|EFO:0003859|NCIT:C3435 A neoplasm (disease) that involves the uterus. SNOMEDCT:126908007|NCIT:C3435 http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus|uterus neoplasm|neoplasm of the uterus|uterus neoplasm|neoplasm of uterus|uterus tumor|uterine neoplasm|uterine tumor|tumor of the uterus|uterus neoplasm (disease)|uterine neoplasms MONDO:0021354 tumor of adipose tissue biolink:Disease mondo NCIT:C4248|UMLS:C0206631|SCTID:254831005|ICD9:239.2 A neoplasm (disease) that involves the adipose tissue. UMLS:C0206631|SNOMEDCT:254831005|NCIT:C4248 http://purl.obolibrary.org/obo/MONDO_0021354 lipomatous neoplasm|neoplasm of the adipose tissue|adipose tissue neoplasm (disease)|adipose tissue neoplasm|lipomatous tumor|neoplasm of adipose tissue|adipose tissue tumor|tumor of the adipose tissue|tumor of adipose tissue MONDO:0021355 neoplasm of esophagus biolink:Disease mondo NCIT:C3028|UMLS:C0014859|SCTID:126817006 A neoplasm (disease) that involves the esophagus. SNOMEDCT:126817006|UMLS:C0014859|NCIT:C3028 http://purl.obolibrary.org/obo/MONDO_0021355 esophageal tumor|tumor of esophagus|neoplasm of the esophagus|esophagus neoplasm (disease)|esophageal neoplasms, benign and malignant|esophagus neoplasm|neoplasm of esophagus|esophageal neoplasm|esophagus tumor|tumor of the esophagus|esophageal tumors MONDO:0021357 tumor of salivary gland biolink:Disease mondo NCIT:C3361|EFO:0003826|SCTID:235132004 A neoplasm (disease) that involves the saliva-secreting gland. NCIT:C3361|SNOMEDCT:235132004 http://purl.obolibrary.org/obo/MONDO_0021357 tumor of saliva-secreting gland|salivary gland neoplasm|tumor of the salivary gland|saliva-secreting gland neoplasm (disease)|neoplasm of saliva-secreting gland|saliva-secreting gland tumor|neoplasm of salivary gland|salivary gland tumor|neoplasm of the salivary gland|saliva-secreting gland neoplasm MONDO:0021358 neoplasm of hypopharynx biolink:Disease mondo NCIT:C3127|SCTID:126686005 A neoplasm (disease) that involves the hypopharynx. NCIT:C3127|SNOMEDCT:126686005 http://purl.obolibrary.org/obo/MONDO_0021358 hypopharyngeal neoplasm|hypopharynx neoplasm (disease)|tumor of hypopharynx|neoplasm of the hypopharynx|hypopharynx neoplasm|hypopharyngeal tumor|neoplasm of hypopharynx|hypopharynx tumor|hypopharyngeal neoplasms|tumor of the hypopharynx MONDO:0008379 retinitis pigmentosa 10 biolink:Disease mondo DOID:0110388|MESH:C566715|UMLS:C1867299|OMIM:180105|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene. DOID:0110388|http://identifiers.org/omim/180105|MESH:C566715|UMLS:C1867299 http://purl.obolibrary.org/obo/MONDO_0008379 retinitis pigmentosa type 10|retinitis pigmentosa caused by mutation in IMPDH1|retinitis pigmentosa 10; RP10|IMPDH1 retinitis pigmentosa|retinitis pigmentosa 10|RP10 MONDO:0008378 retinitis pigmentosa 9 biolink:Disease mondo ICD10:H35.5|OMIM:180104|GARD:0010382|DOID:0110387|MESH:C566716|UMLS:C1867300 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene. MESH:C566716|UMLS:C1867300|DOID:0110387|http://identifiers.org/omim/180104 http://purl.obolibrary.org/obo/MONDO_0008378 retinitis pigmentosa caused by mutation in RP9|RP9|RP9 retinitis pigmentosa|retinitis pigmentosa 9|RP 9|retinitis pigmentosa 9; RP9|retinitis pigmentosa type 9 gard_rare MONDO:0008377 retinitis pigmentosa 1 biolink:Disease mondo GARD:0009149|MESH:C538365|ICD10:H35.5|UMLS:C0220701|OMIM:180100|DOID:0110390 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene. UMLS:C0220701|MESH:C538365|http://identifiers.org/omim/180100|DOID:0110390 http://purl.obolibrary.org/obo/MONDO_0008377 retinitis pigmentosa|RP1|RP|retinitis pigmentosa 1; RP1|retinitis pigmentosa 1|retinitis pigmentosa; RP|retinitis pigmentosa caused by mutation in RP1|RP1 retinitis pigmentosa|retinitis pigmentosa type 1 MONDO:0008376 retinal venous beading biolink:Disease mondo OMIM:180080 http://identifiers.org/omim/180080 http://purl.obolibrary.org/obo/MONDO_0008376 retinal venous beading MONDO:0008375 retinal detachment biolink:Disease mondo SCTID_2010_1_31:193347002|ICD9:361.89|ICD9:361.9|SCTID_2010_1_31:155103005|SCTID_2010_1_31:42059000|ICD10:H33.2|ICD9:362.40|OMIM:180050|UMLS:C0035305|DOID:5327|NCIT:C26874|SCTID:42059000|MESH:D012163|COHD:378414|EFO:0005773 An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. NCIT:C26874|SNOMEDCT:42059000|DOID:5327|MESH:D012163|http://identifiers.org/omim/180050|UMLS:C0035305 http://purl.obolibrary.org/obo/MONDO_0008375 retina, detached|retinal detachment|detached retina MONDO:0021350 neoplasm of thorax biolink:Disease mondo SCTID:255058005|UMLS:C0039981|ICD9:239.89|NCIT:C3406 A neoplasm (disease) that involves the thoracic segment of trunk. UMLS:C0039981|SNOMEDCT:255058005|NCIT:C3406 http://purl.obolibrary.org/obo/MONDO_0021350 thoracic segment of trunk neoplasm|neoplasm of the thorax|tumor of thoracic segment of trunk|thoracic segment of trunk neoplasm (disease)|tumor of thorax|neoplasm of thoracic segment of trunk|tumor of the thorax|thoracic neoplasm|thoracic segment of trunk tumor|thoracic tumor MONDO:0008374 retinal cone dystrophy type 1 biolink:Disease mondo MESH:C566719|OMIM:180020|GARD:0003196 MESH:C566719|http://identifiers.org/omim/180020 http://purl.obolibrary.org/obo/MONDO_0008374 cone dystrophy, autosomal dominant|retinal cone Degeneration|retinal cone dystrophy 1; RCD1|cone dystrophy autosomal dominant|RCD1|retinal cone dystrophy 1 MONDO:0008373 retinal arterial tortuosity (disease) biolink:Disease mondo ICD10:Q14.1|Orphanet:75326|OMIM:180000|HP:0001136 ORPHA:75326|http://identifiers.org/omim/180000 http://purl.obolibrary.org/obo/MONDO_0008373 retinal arterial tortuosity|retinal arteriolar tortuosity|RATOR|retinal arteries, tortuosity OF; RATOR|retinal hemorrhage with vascular tortuosity|retinal arteries, tortuosity OF|tortuosity of retinal arteries ordo_disease MONDO:0008372 retinal aplasia biolink:Disease mondo UMLS:C1867331|OMIM:179900|MESH:C566720 MESH:C566720|http://identifiers.org/omim/179900|UMLS:C1867331 http://purl.obolibrary.org/obo/MONDO_0008372 amaurosis congenita|retinal aplasia MONDO:0008371 Dowling-Degos disease biolink:Disease mondo ICD10:L81.8|MedDRA:10068651|Orphanet:79145|MESH:C562924|DOID:0060256|GARD:0009775 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. MEDDRA:10068651|MESH:C562924|ORPHA:79145|DOID:0060256 http://purl.obolibrary.org/obo/MONDO_0008371 dark dot disease|DDD1|reticular pigment anomaly of flexures|Dowling-Degos Kitamura disease|Dowling-Degos disease type 1|Dowling-Degos disease 1 ordo_disease MONDO:0008370 reticular dystrophy of retinal pigment epithelium biolink:Disease mondo OMIM:179840|SCTID:723502001|MESH:C566721|UMLS:C1867332 http://identifiers.org/omim/179840|MESH:C566721|UMLS:C1867332|SNOMEDCT:723502001 http://purl.obolibrary.org/obo/MONDO_0008370 reticular dystrophy of retinal pigment epithelium PATO:0001475 increased position biolink:OntologyClass mondo A position which is relatively high. http://purl.obolibrary.org/obo/PATO_0001475 high position PATO:0001476 decreased position biolink:OntologyClass mondo A positional which is relatively low. http://purl.obolibrary.org/obo/PATO_0001476 low position HGNC:28093 BBIP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/28093 MONDO:0021348 neoplasm of testis biolink:Disease mondo NCIT:C3404|ONCOTREE:TESTIS|EFO:0004281|ICD9:239.5|SCTID:126900000 A neoplasm (disease) that involves the testis. NCIT:C3404|SNOMEDCT:126900000 http://purl.obolibrary.org/obo/MONDO_0021348 tumor of the testis|testicular tumor|testicular neoplasm|testis neoplasm (disease)|tumor of testis|neoplasm of the testis|neoplasm of testis|testis tumor|testis neoplasm|testis neoplasm MONDO:0021340 intertrigo biolink:Disease mondo ICD9:695.89|UMLS:C0021807|SCTID:58759008|MESH:D007402 A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation. MESH:D007402|SNOMEDCT:58759008|UMLS:C0021807 http://purl.obolibrary.org/obo/MONDO_0021340 Erythema intertrigo|Intertrigo|Eczema intertrigo MONDO:0021343 carcinoma of floor of mouth biolink:Disease mondo NCIT:C9319|SCTID:449156009 A carcinoma that involves the mouth floor. SNOMEDCT:449156009|NCIT:C9319 http://purl.obolibrary.org/obo/MONDO_0021343 carcinoma of mouth floor|mouth floor carcinoma|mouth floor cancer|carcinoma of the floor of the mouth|floor of the mouth carcinoma|floor of mouth carcinoma MONDO:0021345 carcinoma of pharynx biolink:Disease mondo NCIT:C9466|SCTID:449254004 A carcinoma that involves the pharynx. NCIT:C9466|SNOMEDCT:449254004 http://purl.obolibrary.org/obo/MONDO_0021345 pharyngeal carcinoma|carcinoma of the pharynx|pharyngeal throat cancer|cancer of the pharynx|pharynx carcinoma|carcinoma of pharynx MONDO:0021347 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021347 MONDO:0008389 autosomal dominant Robinow syndrome biolink:Disease mondo ICD9:759.89|Orphanet:3107|ICD10:Q87.1|SCTID:76520005|UMLS:CN203673 Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. ORPHA:3107|UMLS:CN203673|SNOMEDCT:76520005 http://purl.obolibrary.org/obo/MONDO_0008389 Robinow syndrome, autosomal dominant|autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant type ordo_clinical_subtype MONDO:0008388 ringed hair disease biolink:Disease mondo ICD10:Q84.1|GARD:0004359|MESH:C537187|Orphanet:169|OMIM:180600|SCTID:21926007|UMLS:C0263489 Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases. http://identifiers.org/omim/180600|MESH:C537187|ORPHA:169|SNOMEDCT:21926007|UMLS:C0263489 http://purl.obolibrary.org/obo/MONDO_0008388 pili annulati|ringed hair ordo_disease MONDO:0008387 ring dermoid of cornea biolink:Disease mondo GARD:0009696|UMLS:C1867155|SCTID:723499000|ICD10:D31.1|MESH:C535684|Orphanet:91481|OMIM:180550 Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. SNOMEDCT:723499000|ORPHA:91481|UMLS:C1867155|MESH:C535684|http://identifiers.org/omim/180550 http://purl.obolibrary.org/obo/MONDO_0008387 ring dermoid of cornea|Ring dermoid syndrome|bilateral, annular limbal dermoids with corneal and conjunctival extension|RDC|RING dermoid of cornea; RDC gard_rare|ordo_disease MONDO:0008386 Axenfeld-Rieger syndrome type 1 biolink:Disease mondo OMIM:180500|NCIT:C75015|UMLS:C3714873|DOID:0110120|ICD10:Q13.8 A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth. UMLS:C3714873|NCIT:C75015|DOID:0110120|http://identifiers.org/omim/180500 http://purl.obolibrary.org/obo/MONDO_0008386 Axenfeld-Rieger syndrome, type 1; RIEG1|Axenfeld-Rieger syndrome, type 1|Rgs|Rieger syndrome type 1|Rieger syndrome, type 1|RIEG1|Rieg|Axenfeld-Rieger syndrome caused by mutation in PITX2|PITX2 Axenfeld-Rieger syndrome MONDO:0008385 rhiny biolink:Disease mondo OMIM:180360|MESH:C566708 MESH:C566708|http://identifiers.org/omim/180360 http://purl.obolibrary.org/obo/MONDO_0008385 rhiny|craniorhiny n_of_one MONDO:0008384 rheumatoid nodulosis biolink:Disease mondo MESH:D012218|OMIM:180350|SCTID:402426007|UMLS:C1304215|SCTID:402427003|GARD:0009625 A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules. SNOMEDCT:402426007|UMLS:C1304215|MESH:D012218|http://identifiers.org/omim/180350|SNOMEDCT:402427003 http://purl.obolibrary.org/obo/MONDO_0008384 rheumatoid nodulosis|accelerated rheumatoid nodulosis gard_rare MONDO:0008383 rheumatoid arthritis biolink:Disease mondo MESH:D001172|OMIM:180300|DOID:7148|EFO:0000685|SCTID:69896004|COHD:80809|NCIT:C2884|ICD9:714.0|ICD10:M06.9|UMLS:C0003873|KEGG:05323 A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. DOID:7148|MESH:D001172|UMLS:C0003873|NCIT:C2884|http://identifiers.org/omim/180300|SNOMEDCT:69896004 http://purl.obolibrary.org/obo/MONDO_0008383 atrophic arthritis|rheumatoid arthritis, susceptibility to|RA|autoimmune arthritis|rheumatoid arthritis|arthritis or polyarthritis, rheumatic|rheumatoid arthritis; RA|arthritis, rheumatoid MONDO:0008382 retinoschisis, autosomal dominant biolink:Disease mondo OMIM:180270|GARD:0009144|MESH:C000598640|UMLS:C1867235 Autosomal dominant form of retinoschisis. MESH:C000598640|UMLS:C1867235|http://identifiers.org/omim/180270 http://purl.obolibrary.org/obo/MONDO_0008382 autosomal dominant retinoschisis|retinoschisis, autosomal dominant|retinoschisis autosomal dominant gard_rare MONDO:0008381 dominant pericentral pigmentary retinopathy biolink:Disease mondo OMIM:180210|MESH:C566713|UMLS:C1867261|ICD10:H35.5|DOID:0110420 A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. MESH:C566713|UMLS:C1867261|DOID:0110420|http://identifiers.org/omim/180210 http://purl.obolibrary.org/obo/MONDO_0008381 retinopathy, pericentral pigmentary, dominant PATO:0001481 sloped biolink:OntologyClass mondo A shape quality inhering in a bearer by virtue of the bearer's having an oblique or slanted direction. http://purl.obolibrary.org/obo/PATO_0001481 MONDO:0008380 retinoblastoma biolink:Disease mondo UMLS:C0035335|MESH:D012175|ONCOTREE:RBL|Orphanet:790|GARD:0007563|NCIT:C7541|ICDO:9510/3|OMIM:180200|SCTID:370967009|DOID:768|ICD10:C69.2|MedDRA:10038916 A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. MEDDRA:10038916|SNOMEDCT:370967009|MESH:D012175|DOID:768|ORPHA:790|NCIT:C7541|http://identifiers.org/omim/180200|UMLS:C0035335 http://purl.obolibrary.org/obo/MONDO_0008380 eye cancer, retinoblastoma|RB|retinoblastoma, malignant|retinoblastoma; RB1|RB - retinoblastoma|RB1|retinoblastoma|neuroblastoma of retina|Rb ordo_disease MONDO:0021337 tonsil carcinoma biolink:Disease mondo NCIT:C4825|SCTID:274085008|UMLS:C0558355 A carcinoma that involves the tonsil. UMLS:C0558355|NCIT:C4825|SNOMEDCT:274085008 http://purl.obolibrary.org/obo/MONDO_0021337 tonsillar cancer|tonsil carcinoma|tonsil cancer|cancer of tonsil|cancer of the tonsil|carcinoma of tonsil|carcinoma of the tonsil|tonsillar carcinoma MONDO:0021339 carcinoma of hard palate biolink:Disease mondo NCIT:C8394|SCTID:254434008|UMLS:C0345550 A carcinoma that involves the hard palate. SNOMEDCT:254434008|UMLS:C0345550|NCIT:C8394 http://purl.obolibrary.org/obo/MONDO_0021339 carcinoma of the hard palate|hard palate carcinoma|carcinoma of hard palate NCBITaxon:43816 Anophelinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43816 NCBITaxon:43817 Culicinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43817 PATO:0001414 catalytic activity biolink:OntologyClass mondo A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action. http://purl.obolibrary.org/obo/PATO_0001414 PATO:0001412 unstructured biolink:OntologyClass mondo A structural quality inhering in a bearer by virtue of the bearer's lacking distinct structure. http://purl.obolibrary.org/obo/PATO_0001412 HGNC:28072 LYRM7 biolink:OntologyClass mondo http://identifiers.org/hgnc/28072 NCBITaxon:43801 Ceratopogoninae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43801 HGNC:28086 NDUFAF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/28086 MONDO:0021396 polyp of vulva biolink:Disease mondo NCIT:C3978|ICD10:N84.3|SCTID:57158005|UMLS:C0269218|ICD9:624.6 A polyp that involves the mammalian vulva. UMLS:C0269218|SNOMEDCT:57158005|NCIT:C3978 http://purl.obolibrary.org/obo/MONDO_0021396 vulva polyp|polyp of the vulva|mammalian vulva polyp|vulvar polyp HGNC:16075 RAB33B biolink:OntologyClass mondo http://identifiers.org/hgnc/16075 MONDO:0021398 polyp of rectum biolink:Disease mondo NCIT:C3351|UMLS:C0034887|SCTID:39772007 A polyp that involves the rectum. SNOMEDCT:39772007|UMLS:C0034887|NCIT:C3351 http://purl.obolibrary.org/obo/MONDO_0021398 polyp of the rectum|rectum polyp|rectal polyp NCBITaxon:1489845 Gadoidei organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1489845 NCBITaxon:1489843 Gadariae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1489843 NCBITaxon:1489841 Zeiogadaria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1489841 Zeiogadiformes MONDO:0021390 polyp of ureter biolink:Disease mondo UMLS:C0346269|SCTID:197821004|ICD9:593.89|NCIT:C4530 A polyp that involves the ureter. NCIT:C4530|UMLS:C0346269|SNOMEDCT:197821004 http://purl.obolibrary.org/obo/MONDO_0021390 ureteral polyp|polyp of the ureter|ureter polyp MONDO:0021392 polyp of large intestine biolink:Disease mondo SCTID:399505005|UMLS:C0949059|NCIT:C5679 A polyp that involves the large intestine. NCIT:C5679|UMLS:C0949059|SNOMEDCT:399505005 http://purl.obolibrary.org/obo/MONDO_0021392 colorectal polyp|polyp of the large bowel|large bowel polyp|large intestine polyp|polyp of large bowel|polyp of the large intestine MONDO:0021394 polyp of vagina biolink:Disease mondo ICD10:N84.2|ICD9:623.7|NCIT:C3664|UMLS:C0156390|SCTID:29609001 A polyp that involves the vagina. UMLS:C0156390|SNOMEDCT:29609001|NCIT:C3664 http://purl.obolibrary.org/obo/MONDO_0021394 vagina polyp|vaginal polyp|polyp, vaginal, benign|polyp of the vagina HGNC:28052 XPNPEP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/28052 HGNC:16084 LIMS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16084 MONDO:0021385 extrahepatic bile duct neoplasm biolink:Disease mondo NCIT:C4441|SCTID:126855001 A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma. SNOMEDCT:126855001|NCIT:C4441 http://purl.obolibrary.org/obo/MONDO_0021385 tumor of extrahepatic bile duct|extrahepatic bile duct neoplasm (disease)|neoplasm of the extrahepatic bile duct|neoplasm of extrahepatic bile duct|extrahepatic bile duct tumor|tumor of the extrahepatic bile duct|extrahepatic bile duct neoplasm MONDO:0021386 neoplasm of mediastinum biolink:Disease mondo ICD9:239.89|SCTID:126725000|NCIT:C3221 A neoplasm (disease) that involves the mediastinum. NCIT:C3221|SNOMEDCT:126725000 http://purl.obolibrary.org/obo/MONDO_0021386 mediastinal tumor|neoplasm of the mediastinum|tumor of mediastinum|mediastinum neoplasm (disease)|mediastinal neoplasm|tumor of the mediastinum|mediastinal neoplasm NOS|mediastinum neoplasm|neoplasm of mediastinum|mediastinum tumor MONDO:0021388 neoplasm of chest wall biolink:Disease mondo UMLS:C1290309|NCIT:C4929|ICD9:239.89|SCTID:126640008 A neoplasm (disease) that involves the chest wall. UMLS:C1290309|SNOMEDCT:126640008|NCIT:C4929 http://purl.obolibrary.org/obo/MONDO_0021388 chest wall tumor|tumor of the chest wall|chest wall neoplasm|neoplasm of chest wall|chest wall neoplasm (disease)|tumor of chest wall|neoplasm of the chest wall MONDO:0021389 neoplasm of aortic body biolink:Disease mondo ICDO:8691/1|ICD9:239.7|UMLS:C0334417|NCIT:C4218|SCTID:127029006 A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels. NCIT:C4218|UMLS:C0334417|SNOMEDCT:127029006 http://purl.obolibrary.org/obo/MONDO_0021389 paraganglioma of the aortic body|paraganglioma of aortic body|aortic body paraganglioma|tumor of aortic body|neoplasm of the aortic body|neoplasm of aortic body|aortic body neoplasm (disease)|aortic body tumor|tumor of the aortic body|aorticopulmonary paraganglioma|aortic body neoplasm MONDO:0021380 neoplasm of myocardium biolink:Disease mondo ICD9:239.89|SCTID:126732009|NCIT:C5349|UMLS:C1290402 A neoplasm (disease) that involves the myocardium. NCIT:C5349|SNOMEDCT:126732009|UMLS:C1290402 http://purl.obolibrary.org/obo/MONDO_0021380 myocardial neoplasm|tumor of the myocardium|myocardium neoplasm|tumor of myocardium|myocardial tumor|neoplasm of the myocardium|myocardium neoplasm (disease)|neoplasm of myocardium|myocardium tumor MONDO:0021381 neoplasm of pericardium biolink:Disease mondo ICD9:239.89|NCIT:C4651|SCTID:126734005 A neoplasm (disease) that involves the pericardium. SNOMEDCT:126734005|NCIT:C4651 http://purl.obolibrary.org/obo/MONDO_0021381 pericardium neoplasm (disease)|pericardial neoplasm|tumor of the pericardium|neoplasm of pericardium|pericardium tumor|pericardium neoplasm|pericardial tumor|tumor of pericardium|neoplasm of the pericardium MONDO:0021383 neoplasm of floor of mouth biolink:Disease mondo UMLS:C0345538|NCIT:C4401|SCTID:126799003 A neoplasm (disease) that involves the mouth floor. NCIT:C4401|SNOMEDCT:126799003|UMLS:C0345538 http://purl.obolibrary.org/obo/MONDO_0021383 floor of mouth neoplasm|mouth floor neoplasm (disease)|tumor of mouth floor|floor of the mouth neoplasm|neoplasm of the floor of the mouth|floor of the mouth tumor|floor of mouth tumor|neoplasm of mouth floor|mouth floor neoplasm|mouth floor tumor|tumor of floor of mouth|tumor of the floor of the mouth HGNC:16088 SFXN4 biolink:OntologyClass mondo http://identifiers.org/hgnc/16088 GO:0016250 N-sulfoglucosamine sulfohydrolase activity biolink:OntologyClass mondo Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate. http://purl.obolibrary.org/obo/GO_0016250 N-sulphoglucosamine sulphohydrolase activity|N-sulfo-D-glucosamine sulfohydrolase activity|heparin sulfamidase activity|sulphamidase activity|sulfoglucosamine sulfamidase activity|2-desoxy-D-glucoside-2-sulphamate sulphohydrolase (sulphamate sulphohydrolase) MONDO:0033352 neuropathy, congenital hypomelinating biolink:Disease mondo OMIMPS:605253 http://purl.obolibrary.org/obo/MONDO_0033352 CHN MONDO:0008319 protoporphyria, erythropoietic, 1 biolink:Disease mondo OMIM:177000|GARD:0004527|NCIT:C84698 Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21. NCIT:C84698|http://identifiers.org/omim/177000 http://purl.obolibrary.org/obo/MONDO_0008319 Erythrohepatic protoporphyria|protoporphyria, erythropoietic; EPP|protoporphyria, erythropoietic|heme synthetase deficiency|ferrochelatase deficiency|erythropoietic protoporphyria|EPP1|EPP|erythropoietic protoporphyria|protoporphyria, erythropoietic, 1 gard_rare MONDO:0008318 Proteus syndrome biolink:Disease mondo SCTID:23150001|DOID:13482|OMIM:176920|MESH:D016715|UMLS:C0085261|Orphanet:744|GARD:0007475|NCIT:C85032|MONDO:0023663|ICD9:759.89|ICD10:Q87.3 Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. SNOMEDCT:23150001|MESH:D016715|UMLS:C0085261|ORPHA:744|DOID:13482|NCIT:C85032|http://identifiers.org/omim/176920 http://purl.obolibrary.org/obo/MONDO_0008318 Proteus syndrome|Wiedemann's syndrome|partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|hemihypertrophy and macrocephaly|Elattoproteus syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly ordo_malformation_syndrome MONDO:0008317 proteolytic capacity of plasma biolink:Disease mondo OMIM:176900 http://identifiers.org/omim/176900 http://purl.obolibrary.org/obo/MONDO_0008317 proteolytic capacity of plasma MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant biolink:Disease mondo OMIM:176860 http://identifiers.org/omim/176860 http://purl.obolibrary.org/obo/MONDO_0008316 thrombophilia due to PROTEIN C deficiency, autosomal dominant; THPH3|THPH3|thrombophilia due to protein C deficiency, autosomal dominant|Protein C deficiency, autosomal dominant|Proc deficiency, autosomal dominant|Protein C deficiency, acquired MONDO:0008315 prostate cancer biolink:Disease mondo DOID:10283|ICD9:185|UMLS:C0376358|SCTID:399068003|COHD:4163261|NCIT:C7378|ICD10:C61|MESH:D011471 A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas. MESH:D011471|NCIT:C7378|SNOMEDCT:399068003|DOID:10283|UMLS:C0376358 http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer, familial|malignant tumor of prostate|prostate cancer|hereditary prostate cancer|malignant neoplasm of prostate|malignant neoplasm of prostate gland|malignant prostate tumor|malignant neoplasm of the prostate|prostate neoplasm|prostate gland cancer|tumor of the prostate|malignant prostate neoplasm|prostatic cancer|malignant tumor of the prostate|prostatic neoplasm|malignant prostate gland neoplasm|cancer of prostate gland|NGP - new growth of prostate ordo_disease NCBITaxon:28221 Deltaproteobacteria organism taxon mondo PMID:28771119|PMID:11837318|GC_ID:11|PMID:16403855|PMID:27453056 http://purl.obolibrary.org/obo/NCBITaxon_28221 d-proteobacteria|Proteobacteria delta subdivision|Purple bacteria, delta subdivision|delta subgroup|Myxococcia|delta subdivision|Deltabacteria Cavalier-Smith 2002|"Deltabacteria" Cavalier-Smith 1992|delta proteobacteria MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies biolink:Disease mondo UMLS:C1842562|MESH:C564291|OMIM:608098 MESH:C564291|UMLS:C1842562|http://identifiers.org/omim/608098 http://purl.obolibrary.org/obo/MONDO_0011967 heterotopia, periventricular, associated with chromosome 5P anomalies|periventricular nodular heterotopia 3 UBERON:0005192 deferent duct artery biolink:AnatomicalEntity mondo An artery in males that provides blood to the vas deferens. The artery usually arises from the anterior trunk of the superior vesical artery. It accompanies the vas deferens into the testis, where it anastomoses with the testicular artery. In this way it also supplies blood to the testis and epididymis. A small branch supplies the ureter[WP]. http://purl.obolibrary.org/obo/UBERON_0005192 arteria ductus deferentis|vas deferens artery|artery of ductus deferens|ductus deferens artery MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D biolink:Disease mondo GARD:0000438|NCIT:C142081|SCTID:715340002|ICD10:G71.0|DOID:0110278|Orphanet:62|OMIM:608099 Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. DOID:0110278|UMLS:C1842550|NCIT:C142081|ORPHA:62|SNOMEDCT:715340002|http://identifiers.org/omim/608099|UMLS:C2936332 http://purl.obolibrary.org/obo/MONDO_0011968 SGCA autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, type 2D|primary adhalinopathy|muscular dystrophy, limb-girdle, type 2D|Duchenne-like autosomal recessive muscular dystrophy type 2|muscular dystrophy limb-girdle with alpha-sarcoglycan|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency|limb-girdle muscular dystrophy type 2D|Alpha-sarcoglycanopathy|muscular dystrophy, limb-girdle, type 2D; LGMD2D|LGMD2D|Adhalinopathy, primary|DMDA2|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA|Duchenne-like autosomal recessive muscular dystrophy, type 2 ordo_disease MONDO:0008314 pronation-supination of the forearm, impairment of biolink:Disease mondo MESH:C566757|UMLS:C1867726|OMIM:176800 MESH:C566757|UMLS:C1867726|http://identifiers.org/omim/176800 http://purl.obolibrary.org/obo/MONDO_0008314 pronation-supination of the forearm, impairment of MONDO:0011965 familial temporal lobe epilepsy 2 biolink:Disease mondo Orphanet:98819|OMIM:608096|GARD:0005135|MESH:C536956|DOID:0060755|ICD10:G40.2 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3. ORPHA:98819|UMLS:C1842564|MESH:C536956|DOID:0060755|http://identifiers.org/omim/608096 http://purl.obolibrary.org/obo/MONDO_0011965 temporal epilepsy, familial|Ftle|familial temporal lobe epilepsy|familial temporal lobe epilepsy type 2|epilepsy, familial temporal lobe, 2|epilepsy, familial temporal lobe, 2; ETL2|epilepsy, familial temporal lobe|ETL2 ordo_disease MONDO:0008313 pelvic organ prolapse, susceptibility to biolink:Disease mondo OMIM:176780 http://identifiers.org/omim/176780 http://purl.obolibrary.org/obo/MONDO_0008313 prolapse of vagina and rectum|pelvic organ prolapse, susceptibility to|pelvic organ prolapse, susceptibility to, 1|vaginal prolapse|rectal prolapse predisposition MONDO:0008312 autosomal dominant prognathism biolink:Disease mondo ICD10:K07.1|Orphanet:2964|UMLS:CN203311|MESH:D008313|OMIM:176700|GARD:0010319 Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion). ORPHA:2964|MESH:D008313|http://identifiers.org/omim/176700|UMLS:CN203311 http://purl.obolibrary.org/obo/MONDO_0008312 Hapsburg jaw|Habsburg jaw|prognathism, mandibular|'Habsburg jaw'|'Hapsburg jaw'|prognathism mandibular ordo_malformation_syndrome MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive biolink:Disease mondo MESH:C564292|UMLS:C1842563|OMIM:608097 MESH:C564292|UMLS:C1842563|http://identifiers.org/omim/608097 http://purl.obolibrary.org/obo/MONDO_0011966 ARPHM|periventricular heterotopia with microcephaly, autosomal recessive; ARPHM|periventricular nodular heterotopia 2|heterotopia, periventricular, autosomal recessive|periventricular heterotopia with microcephaly, autosomal recessive MONDO:0008311 progeria-short stature-pigmented nevi syndrome biolink:Disease mondo UMLS:C1261128|OMIM:176690|Orphanet:2959|GARD:0004494|MESH:C536422|ICD9:759.89|SCTID:399947002 Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat. ORPHA:2959|MESH:C536422|http://identifiers.org/omim/176690|SNOMEDCT:399947002|UMLS:C1261128 http://purl.obolibrary.org/obo/MONDO_0008311 progeroid short stature with pigmented nevi|Mulvihill-Smith syndrome ordo_malformation_syndrome HGNC:28033 CCDC174 biolink:OntologyClass mondo http://identifiers.org/hgnc/28033 MONDO:0008310 Hutchinson-Gilford progeria syndrome biolink:Disease mondo DOID:3911|Orphanet:740|SCTID:238870004|MedDRA:10036794|UMLS:CN236401|ICD9:259.8|NCIT:C34951|OMIM:176670|GARD:0007467|UMLS:C0033300|ICD10:E34.8|MESH:D011371 Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat). MEDDRA:10036794|ORPHA:740|NCIT:C34951|MESH:D011371|UMLS:CN236401|DOID:3911|http://identifiers.org/omim/176670|SNOMEDCT:238870004|UMLS:C0033300 http://purl.obolibrary.org/obo/MONDO_0008310 premature senility syndrome|Hutchinson-Gilford progeria syndrome|Hutchinson-Gilford disease|HGPS|progeria syndrome, childhood-onset|Hutchinson-Gilford progeria syndrome|Hutchinson Gilford syndrome|Hutchinson-Gilford progeria syndrome; HGPS|progeria|Hutchinson Gilford progeria syndrome clingen|prototype_pattern|ordo_disease|gard_rare UBERON_CORE:filtered_through filtered through biolink:OntologyClass mondo Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. http://purl.obolibrary.org/obo/uberon/core#filtered_through MONDO:0011969 ALG8-CDG biolink:Disease mondo OMIM:608104|Orphanet:79325|SCTID:720977000|GARD:0009834|ICD10:E77.8|UMLS:C2931002|MESH:C535746 (11q14.1), resulting in a block in the initial step of protein glycosylation. SNOMEDCT:720977000|ORPHA:79325|MESH:C535746|UMLS:C2931002|http://identifiers.org/omim/608104 http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-CDG (CDG-Ih)|CDG syndrome type Ih|congenital disorder of glycosylation type Ih|congenital disorder of glycosylation, type Ih|congenital disorder of glycosylation, type Ih; CDG1H|CDG1H|CDG 1H|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type 1h|carbohydrate deficient glycoprotein syndrome type Ih|CDG-Ih|CDG Ih ordo_disease MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome biolink:Disease mondo Orphanet:163727|MESH:C535499|OMIM:608105|UMLS:C1842531 http://identifiers.org/omim/608105|MESH:C535499|UMLS:C1842531|ORPHA:163727 http://purl.obolibrary.org/obo/MONDO_0011970 EPRPDC|epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp|Re-ped-Wc|epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp; EPRPDC ordo_disease MONDO:0011971 hyper-IgM syndrome type 5 biolink:Disease mondo ICD10:D80.5|OMIM:608106|GARD:0010581|DOID:0060759|Orphanet:101092 Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene. DOID:0060759|ORPHA:101092|http://identifiers.org/omim/608106 http://purl.obolibrary.org/obo/MONDO_0011971 hyper-IgM syndrome due to uracil N-glycosylase|hyper-IgM syndrome caused by mutation in UNG|HIGM5|immunodeficiency with hyper-IgM, type 5|hyper IgM syndrome 5|hyper-IgM syndrome due to UNG deficiency|immunodeficiency with hyper-IgM, type 5; HIGM5|immunodeficiency with hyper IgM type 5|UNG hyper-IgM syndrome|hyper-IgM syndrome 5 gard_rare|ordo_clinical_subtype HGNC:3483 ETFDH biolink:OntologyClass mondo http://identifiers.org/hgnc/3483 UBERON:0005199 cervical mammary gland biolink:AnatomicalEntity mondo A mammary gland that is part of a cervical region. http://purl.obolibrary.org/obo/UBERON_0005199 HGNC:3482 ETFB biolink:OntologyClass mondo http://identifiers.org/hgnc/3482 HGNC:3481 ETFA biolink:OntologyClass mondo http://identifiers.org/hgnc/3481 MONDO:0011974 retinitis pigmentosa 7 biolink:Disease mondo ICD10:H35.5|DOID:0110383|OMIM:608133|UMLS:C1842475|GARD:0010386 A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21. DOID:0110383|UMLS:C1842475|http://identifiers.org/omim/608133 http://purl.obolibrary.org/obo/MONDO_0011974 Leber congenital amaurosis 18|RP7|retinitis pigmentosa type 7|retinitis pigmentosa 7; RP7|retinitis pigmentosa 7, digenic|RP 7|retinitis pigmentosa 7 gard_rare MONDO:0011975 paternal uniparental disomy of chromosome 14 biolink:Disease mondo Orphanet:96334|UMLS:C1842466|MESH:C536471|OMIM:608149|GARD:0005409|ICD10:Q99.8 ORPHA:96334|UMLS:C1842466|http://identifiers.org/omim/608149|MESH:C536471 http://purl.obolibrary.org/obo/MONDO_0011975 paternal uniparental disomy of chromosome type 14|UPD(14)pat|KAGAMI-Ogata syndrome|paternal uniparental disomy 14|uniparental disomy, paternal, chromosome 14 ordo_etiological_subtype|gard_rare UBERON:0005195 deferent duct vein biolink:AnatomicalEntity mondo A vein that is part of a vas deferens [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005195 UBERON:0005194 thoracic vein biolink:AnatomicalEntity mondo A vein that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005194 MONDO:0011972 ovarian hyperstimulation syndrome biolink:Disease mondo SCTID:129635004|Orphanet:64739|UMLS:C0085083|ICD9:256.1|MedDRA:10033266|ICD10:N98.1|DOID:5425|MESH:D016471|OMIM:608115 A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries. MESH:D016471|ORPHA:64739|UMLS:C0085083|http://identifiers.org/omim/608115|DOID:5425|SNOMEDCT:129635004|MEDDRA:10033266 http://purl.obolibrary.org/obo/MONDO_0011972 OHSS|ovarian hyperstimulation syndrome, familial gestational spontaneous|secondary Meig's syndrome|ovarian hyperstimulation syndrome|ovarian hyperstimulation syndrome; OHSS ordo_disease MONDO:0011973 zinc deficiency, transient neonatal biolink:Disease mondo MESH:C564286|OMIM:608118|UMLS:C1842486 http://identifiers.org/omim/608118|MESH:C564286|UMLS:C1842486 http://purl.obolibrary.org/obo/MONDO_0011973 zinc deficiency, transient neonatal|TNZD|zinc deficiency, transient neonatal; TNZD|zinc in breast milk, reduced|zinc deficiency, neonatal, due to Low breast milk zinc FOODON:03400164 dairy product (us cfr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0164 Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995] http://purl.obolibrary.org/obo/FOODON_03400164 UBERON:0017163 skin bony tubercle biolink:AnatomicalEntity mondo A bony structure embedded in skin, roughly equivalent to osteoderms. http://purl.obolibrary.org/obo/UBERON_0017163 bony tubercle|bony tubercles MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 biolink:Disease mondo OMIM:177735|GARD:0009145|DOID:0060855|UMLS:C1449842|Orphanet:171871|ICD10:N25.8 Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. ORPHA:171871|UMLS:C1449842|http://identifiers.org/omim/177735|DOID:0060855 http://purl.obolibrary.org/obo/MONDO_0008329 PHA I, autosomal dominant|renal pseudohypoaldosteronism type 1|autosomal dominant PHA 1|renal PHA1|pseudohypoaldosteronism, type I, autosomal dominant; PHA1A|pseudohypoaldosteronism type 1, dominant|PHA1A|autosomal dominant pseudohypoaldosteronism type 1|pseudohypoaldosteronism type 1 autosomal dominant|pseudohypoaldosteronism, type I, autosomal dominant ordo_clinical_subtype|gard_rare MONDO:0008328 glaucoma 1, open angle, P biolink:Disease mondo UMLS:C3888338|OMIM:177700 UMLS:C3888338|http://identifiers.org/omim/177700 http://purl.obolibrary.org/obo/MONDO_0008328 glaucoma 1, open angle, P; GLC1P|glaucoma 1, open angle, type P|glaucoma 1, open angle, P|GLC1P UBERON:5101463 manual digit 1 digitopodial skeleton biolink:AnatomicalEntity mondo A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 1 plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_5101463 manual digit 1|manual digit I digitopodial skeleton|manual digit 1 skeleton MONDO:0008327 exfoliation syndrome biolink:Disease mondo COHD:437273|MESH:D017889|UMLS:C0206368|OMIM:177650|NCIT:C129025|ICD9:365.52|EFO:0004235|DOID:13641|SCTID:111514006 An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma. NCIT:C129025|UMLS:C0206368|http://identifiers.org/omim/177650|DOID:13641|SNOMEDCT:111514006|MESH:D017889 http://purl.obolibrary.org/obo/MONDO_0008327 Pseudoexfoliation syndrome|exfoliation glaucoma|exfoliation syndrome; XFS|XFS|Pseudoexfoliation of the lens|exfoliation syndrome|Pseudoexfoliation glaucoma|XFG UBERON:0005181 thoracic segment organ biolink:AnatomicalEntity mondo An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. http://purl.obolibrary.org/obo/UBERON_0005181 upper body organ MONDO:0011956 AUTS3 biolink:Disease mondo OMIM:608049 http://identifiers.org/omim/608049 http://purl.obolibrary.org/obo/MONDO_0011956 autism, susceptibility to, 3|AUTS3|autism, susceptibility to, 3; AUTS3 predisposition MONDO:0008326 pseudocholinesterase, increase in plasma level of biolink:Disease mondo OMIM:177600 http://identifiers.org/omim/177600 http://purl.obolibrary.org/obo/MONDO_0008326 pseudocholinesterase, increase in plasma level OF MONDO:0011957 retinal macular dystrophy type 2 biolink:Disease mondo ICD10:H35.5|Orphanet:319640|MESH:C562746|OMIM:608051 Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. MESH:C562746|ORPHA:319640|http://identifiers.org/omim/608051 http://purl.obolibrary.org/obo/MONDO_0011957 MCDR2|macular dystrophy, retinal, 2; MCDR2|macular dystrophy, retinal, type 2|macular dystrophy, retinal, 2 ordo_disease NCBITaxon:28211 Alphaproteobacteria organism taxon mondo PMID:11837318|GC_ID:11|PMID:16166687|PMID:16403855|PMID:11541974|PMID:19060069 http://purl.obolibrary.org/obo/NCBITaxon_28211 Purple bacteria, alpha subdivision|alpha subdivision|alpha proteobacteria|Alphabacteria|Proteobacteria alpha subdivision|alpha subgroup|a-proteobacteria MONDO:0008325 Pseudoatrophoderma colli biolink:Disease mondo MESH:C562909|OMIM:177350|UMLS:C0406561|SCTID:238840009 UMLS:C0406561|http://identifiers.org/omim/177350|SNOMEDCT:238840009|MESH:C562909 http://purl.obolibrary.org/obo/MONDO_0008325 Pseudoatrophoderma colli FOODON:03400172 prepared food product (us cfr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0172 Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. Prepared foods often undergo several of the processes listed in *F. EXTENT OF HEAT TREATMENT* and *H. TREATMENT APPLIED*; these factors should be carefully considered in indexing. The classification of prepared food products emphasizes consumption characteristics. [FDA CFSAN 1995] http://purl.obolibrary.org/obo/FOODON_03400172 MONDO:0011954 CMM4 biolink:Disease mondo OMIM:608035 http://identifiers.org/omim/608035 http://purl.obolibrary.org/obo/MONDO_0011954 melanoma, cutaneous malignant, susceptibility to, 4|melanoma, cutaneous malignant, susceptibility to, 4; CMM4|CMM4 predisposition MONDO:0008324 pseudoarthrogryposis biolink:Disease mondo OMIM:177300|MESH:C566753|UMLS:C1867485 MESH:C566753|http://identifiers.org/omim/177300|UMLS:C1867485 http://purl.obolibrary.org/obo/MONDO_0008324 hereditary congenital rigidity of elbows and knees|pseudoarthrogryposis|ankylosis at elbow and knee MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 biolink:Disease mondo UMLS:C1842642|MESH:C564299|OMIM:608036 MESH:C564299|UMLS:C1842642|http://identifiers.org/omim/608036 http://purl.obolibrary.org/obo/MONDO_0011955 noninsulin-dependent diabetes mellitus 4|diabetes mellitus, noninsulin-dependent, type 4|diabetes mellitus, noninsulin-dependent, 4|Niddm4 MONDO:0008323 Liddle syndrome biolink:Disease mondo ICD10:I15.1|GARD:0007381|OMIMPS:177200|MedDRA:10037113|DOID:0050477|SCTID:707747007|MedDRA:10052313|NCIT:C84827|Orphanet:526|MESH:D056929|UMLS:C0221043 Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. MEDDRA:10052313|MESH:D056929|ORPHA:526|DOID:0050477|http://identifiers.org/omim/177200|UMLS:C0221043|SNOMEDCT:707747007|NCIT:C84827|MEDDRA:10037113 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome; LIDLS|Liddle syndrome|Liddle's syndrome|pseudohyperaldosteronism type 1|pseudoaldosteronism|LIDLS ordo_disease|gard_rare MONDO:0008322 pseudoachondroplasia biolink:Disease mondo ICD9:756.9|NCIT:C118635|ICD10:Q77.8|OMIM:177170|DOID:0080047|MESH:C535819|GARD:0004540|Orphanet:750|UMLS:C0410538|SCTID:22567005 Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. NCIT:C118635|DOID:0080047|UMLS:C0410538|http://identifiers.org/omim/177170|ORPHA:750|MESH:C535819|SNOMEDCT:22567005 http://purl.obolibrary.org/obo/MONDO_0008322 pseudoachondroplasia|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|pseudoachondroplasia; PSACH|Pseudoachondroplastic dysplasia|spondyloepiphyseal dysplasia, Pseudoachondroplastic|spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC|PSACH|Pseudoachondroplastic spondyloepiphyseal dysplasia|pseudoachondroplastic dysplasia ordo_disease|gard_rare MONDO:0008321 pruritus, hereditary localized biolink:Disease mondo OMIM:177100|UMLS:C1867499|MESH:C566754 MESH:C566754|http://identifiers.org/omim/177100|UMLS:C1867499 http://purl.obolibrary.org/obo/MONDO_0008321 pruritus, hereditary localized MONDO:0008320 Protrusio acetabuli (disease) biolink:Disease mondo OMIM:177050|HP:0003179|SCTID:59606006 http://identifiers.org/omim/177050|SNOMEDCT:59606006 http://purl.obolibrary.org/obo/MONDO_0008320 PROTRUSIO acetabuli|Protrusio acetabuli MONDO:0011958 bile and pancreatic ducts, complete absence of biolink:Disease mondo OMIM:608063|MESH:C564298 MESH:C564298|http://identifiers.org/omim/608063 http://purl.obolibrary.org/obo/MONDO_0011958 bile and pancreatic ducts, complete absence of MONDO:0011959 sweet syndrome biolink:Disease mondo MESH:D016463|ICD9:702.8|Orphanet:3243|ICD10:L98.2|MedDRA:10000748|OMIM:608068|GARD:0000521|UMLS:C0085077|SCTID:84625002|NCIT:C85177 Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. SNOMEDCT:84625002|NCIT:C85177|MESH:D016463|ORPHA:3243|UMLS:C0085077|MEDDRA:10000748|http://identifiers.org/omim/608068 http://purl.obolibrary.org/obo/MONDO_0011959 neutrophilic dermatosis, acute febrile|Gomm button disease|acute febrile neutrophilic dermatosis|Afnd|sweet syndrome|Gomm-button disease ordo_disease HGNC:3495 ETV6 biolink:OntologyClass mondo http://identifiers.org/hgnc/3495 MONDO:0011960 schizophrenia 11 biolink:Disease mondo DOID:0070087|UMLS:C1842605|OMIM:608078 A schizophrenia that has material basis in a mutation on chromosome 10q22.3. UMLS:C1842605|DOID:0070087|http://identifiers.org/omim/608078 http://purl.obolibrary.org/obo/MONDO_0011960 Sczd11|schizophrenia type 11|SCZD11|schizophrenia susceptibility locus, chromosome 10Q-related|schizophrenia 11 NCBITaxon:28216 Betaproteobacteria organism taxon mondo PMID:28581923|GC_ID:11|PMID:16403855 http://purl.obolibrary.org/obo/NCBITaxon_28216 b-proteobacteria|beta subgroup|beta subdivision|Purple bacteria, beta subdivision|Proteobacteria beta subdivision|beta proteobacteria MONDO:0011963 Joubert syndrome 2 biolink:Disease mondo DOID:0110988|GARD:0010167|UMLS:C1842577|MESH:C536294|OMIM:608091 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene. UMLS:C1842577|DOID:0110988|http://identifiers.org/omim/608091|MESH:C536294 http://purl.obolibrary.org/obo/MONDO_0011963 JBTS2|Joubert syndrome type 2|Joubert syndrome caused by mutation in TMEM216|Joubert syndrome 2|cerebellooculorenal syndrome 2|Cerebellooculorenal syndrome 2|CORS2|TMEM216 Joubert syndrome|Joubert syndrome 2; JBTS2 gard_rare UBERON:0005185 renal medulla collecting duct biolink:AnatomicalEntity mondo The portion of the collecting duct that resides in the renal medulla http://purl.obolibrary.org/obo/UBERON_0005185 kidney medulla collecting duct|medullary collecting duct MONDO:0011964 DPAGT1-CDG biolink:Disease mondo ICD10:E77.8|GARD:0009837|SCTID:725079003|UMLS:C2931004|MESH:C535748|NCIT:C126874|Orphanet:86309|OMIM:608093 DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3). MESH:C535748|UMLS:C2931004|NCIT:C126874|SNOMEDCT:725079003|http://identifiers.org/omim/608093|ORPHA:86309 http://purl.obolibrary.org/obo/MONDO_0011964 carbohydrate deficient glycoprotein syndrome type Ij|CDG-Ij|congenital disorder of glycosylation, type Ij|CDG 1J|congenital disorder of glycosylation, type Ij; CDG1J|DPAGT1-CDG (CDG-Ij)|CDG syndrome type Ij|congenital disorder of glycosylation type Ij|CDG Ij|CDG1J|dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency|CDGIj|congenital disorder of glycosylation type 1j ordo_disease UBERON:0005184 hair medulla biolink:AnatomicalEntity mondo Innermost layer of the hair shaft. http://purl.obolibrary.org/obo/UBERON_0005184 medulla of hair shaft MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B biolink:Disease mondo Orphanet:139564|PMID:12870133|MESH:C564296|SCTID:717825008|PMID:16311270|UMLS:C1842586|UMLS:C4303567|ICD10:G60.8|DOID:0070148|OMIM:608088 Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). UMLS:C4303567|MESH:C564296|UMLS:C1842586|ORPHA:139564|DOID:0070148|SNOMEDCT:717825008|http://identifiers.org/omim/608088 http://purl.obolibrary.org/obo/MONDO_0011961 hereditary sensory neuropathy type 1B|neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux|hereditary sensory neuropathy type IB|HSAN with cough and gastroesophageal reflux|hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux|hereditary sensory and autonomic neuropathy type IB|neuropathy, hereditary sensory and autonomic, type 1B|HSAN1B|neuropathy, hereditary sensory, type 1B ordo_disease MONDO:0011962 endometrial cancer biolink:Disease mondo GARD:0011981|ICD10:C54.1|DOID:1380|EFO:0004230|KEGG:05213|NCIT:C27815|OMIM:608089 Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity). DOID:1380|NCIT:C27815|http://identifiers.org/omim/608089 http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer|endometrium cancer|primary malignant neoplasm of endometrium|malignant endometrium neoplasm|malignant endometrial neoplasm|endometrial Ca|cancer of endometrium|endometrial neoplasm|malignant neoplasm of endometrium|tumor of endometrium|neoplasm of endometrium HGNC:3498 MECOM biolink:OntologyClass mondo http://identifiers.org/hgnc/3498 HGNC:3497 EVC biolink:OntologyClass mondo http://identifiers.org/hgnc/3497 HGNC:16068 PCNT biolink:OntologyClass mondo http://identifiers.org/hgnc/16068 MONDO:0011945 Gaucher disease perinatal lethal biolink:Disease mondo OMIM:608013|GARD:0010675|UMLS:C1842704|Orphanet:85212|DOID:0110960|ICD10:E75.2|MESH:C564306 Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD). ORPHA:85212|MESH:C564306|UMLS:C1842704|DOID:0110960|http://identifiers.org/omim/608013 http://purl.obolibrary.org/obo/MONDO_0011945 Gaucher's disease perinatal lethal|perinatal lethal Gaucher disease|Gaucher disease, collodion type|Gaucher disease, perinatal-lethal form|fetal Gaucher disease|Gaucher disease, perinatal lethal|Gaucher disease perinatal lethal|Gaucher disease collodion type ordo_clinical_subtype|gard_rare MONDO:0011946 diaphanospondylodysostosis biolink:Disease mondo SCTID:721094006|ICD10:Q78.8|UMLS:C1842691|OMIM:608022|Orphanet:66637|MESH:C564305 Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate. http://identifiers.org/omim/608022|MESH:C564305|UMLS:C1842691|ORPHA:66637|SNOMEDCT:721094006 http://purl.obolibrary.org/obo/MONDO_0011946 vertebral ossification, defect in, with nephrogenic rests|diaphanospondylodysostosis ordo_malformation_syndrome MONDO:0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2 biolink:Disease mondo OMIM:607966 http://identifiers.org/omim/607966 http://purl.obolibrary.org/obo/MONDO_0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2|SLEN2|systemic lupus erythematosus with nephritis, susceptibility to, 2; SLEN2 predisposition MONDO:0011944 systemic lupus erythematosus with nephritis, susceptibility to, 3 biolink:Disease mondo OMIM:607967 http://identifiers.org/omim/607967 http://purl.obolibrary.org/obo/MONDO_0011944 systemic lupus erythematosus with nephritis, susceptibility to, 3; SLEN3|systemic lupus erythematosus with nephritis, susceptibility to, 3|SLEN3 predisposition HGNC:28018 NIPAL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/28018 MONDO:0011949 Thai symphalangism syndrome biolink:Disease mondo MESH:C564303|GARD:0003557|UMLS:C1842679|OMIM:608028 http://identifiers.org/omim/608028|MESH:C564303|UMLS:C1842679 http://purl.obolibrary.org/obo/MONDO_0011949 Thai symphalangism syndrome gard_rare MONDO:0011947 HNP1 biolink:Disease mondo UMLS:C0848548|MESH:C563161|OMIM:608026 http://identifiers.org/omim/608026|MESH:C563161|UMLS:C0848548 http://purl.obolibrary.org/obo/MONDO_0011947 hypertensive nephropathy; HNP1|hypertensive nephropathy|HNP1 MONDO:0011948 pontocerebellar hypoplasia type 3 biolink:Disease mondo MESH:C548072|SCTID:718609003|UMLS:C1842687|GARD:0010708|ICD10:Q04.3|DOID:0060272|Orphanet:97249|OMIM:608027 Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. http://identifiers.org/omim/608027|SNOMEDCT:718609003|MESH:C548072|ORPHA:97249|UMLS:C1842687|DOID:0060272 http://purl.obolibrary.org/obo/MONDO_0011948 pontocerebellar hypoplasia, type 3; PCH3|PCH3|clam|Pch with optic atrophy|pontocerebellar hypoplasia, type 3|cerebellar atrophy with progressive microcephaly|PCLO non-syndromic pontocerebellar hypoplasia|PCH with optic atrophy|non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO|PCH without dyskinesia gard_rare|ordo_malformation_syndrome UBERON:0005178 thoracic cavity element biolink:AnatomicalEntity mondo An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity organ HGNC:31670 ENO4 biolink:OntologyClass mondo http://identifiers.org/hgnc/31670 UBERON:0005177 trunk region element biolink:AnatomicalEntity mondo An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. http://purl.obolibrary.org/obo/UBERON_0005177 trunk organ UBERON:0005176 tooth enamel organ biolink:AnatomicalEntity mondo A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. http://purl.obolibrary.org/obo/UBERON_0005176 organum enameleum|dental organ|enamel organ|odontogenic organ UBERON:0005175 chest organ biolink:AnatomicalEntity mondo An organ that is part of a chest [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005175 MONDO:0011952 amyotrophic lateral sclerosis type 7 biolink:Disease mondo MESH:C564300|DOID:0060199|OMIM:608031|UMLS:C1842674|GARD:0010500 MESH:C564300|UMLS:C1842674|DOID:0060199|http://identifiers.org/omim/608031 http://purl.obolibrary.org/obo/MONDO_0011952 amyotrophic lateral sclerosis 7; ALS7|ALS7|amyotrophic lateral sclerosis 7 gard_rare UBERON:0005174 dorsal region element biolink:AnatomicalEntity mondo An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region organ|back organ MONDO:0011953 familial acute necrotizing encephalopathy biolink:Disease mondo Orphanet:88619|OMIM:608033|GARD:0013232|UMLS:C4509836|SCTID:723359002 Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. SNOMEDCT:723359002|UMLS:C4509836|ORPHA:88619|http://identifiers.org/omim/608033 http://purl.obolibrary.org/obo/MONDO_0011953 susceptibility to acute infection-induced encephalopathy-3|acute necrotizing encephalopathy type 1|ANE1|susceptibility to infection-induced acute encephalopathy 3|infection-induced acute encephalopathy 3|encephalopathy, acute necrotizing, susceptibility to|IIAE3|recurrent acute necrotizing encephalopathy|encephalopathy, acute, infection-induced, susceptibility to, 3; IIAE3|ADANE|encephalopathy, acute, infection-induced, susceptibility to, type 3|susceptibility to acute necrotizing encephalopathy|Postinfectious acute necrotizing hemorrhagic encephalopathy|autosomal dominant acute necrotizing encephalopathy|encephalopathy, acute, infection-induced, susceptibility to, 3 predisposition|ordo_disease UBERON:0005173 abdominal segment element biolink:AnatomicalEntity mondo An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment organ MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia biolink:Disease mondo MESH:C537312|UMLS:C1842676|ICD10:G11.0|Orphanet:284332|OMIM:608029|GARD:0004954 UMLS:C1842676|http://identifiers.org/omim/608029|MESH:C537312|ORPHA:284332 http://purl.obolibrary.org/obo/MONDO_0011950 autosomal recessive spinocerebellar ataxia type 6|spinocerebellar ataxia, autosomal recessive 6|SCAR6|cerebellar ataxia, infantile nonprogressive, autosomal recessive|spinocerebellar ataxia autosomal recessive 6|spinocerebellar ataxia, autosomal recessive 6; SCAR6|Norwegian infantile onset ataxia|cerebellar ataxia infantile nonprogressive autosomal recessive ordo_disease UBERON:0005172 abdomen element biolink:AnatomicalEntity mondo An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. http://purl.obolibrary.org/obo/UBERON_0005172 abdomen organ MONDO:0011951 amyotrophic lateral sclerosis type 6 biolink:Disease mondo MESH:C567699|DOID:0060198|GARD:0009874|OMIM:608030 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene. DOID:0060198|http://identifiers.org/omim/608030|MESH:C567699 http://purl.obolibrary.org/obo/MONDO_0011951 FUS amyotrophic lateral sclerosis|autosomal recessive amyotrophic lateral sclerosis 6|amyotrophic lateral sclerosis caused by mutation in FUS|amyotrophic lateral sclerosis 6 with or without frontotemporal dementia|ALS6|amyotrophic lateral sclerosis 6, with or without frontotemporal dementia|amyotrophic lateral sclerosis 6 with or without frontotemporal dementia; ALS6 gard_rare UBERON:0005171 hepatic duct biolink:AnatomicalEntity mondo Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). http://purl.obolibrary.org/obo/UBERON_0005171 UBERON:5101466 pedal digit digitopodial skeleton biolink:AnatomicalEntity mondo A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_5101466 pedal digit skeleton|pedal digit MONDO:0033304 nonsyndromic deafness, Y-linked biolink:Disease mondo OMIMPS:400043 http://purl.obolibrary.org/obo/MONDO_0033304 HGNC:31673 GRXCR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/31673 HGNC:16035 STRC biolink:OntologyClass mondo http://identifiers.org/hgnc/16035 UBERON:0005179 pelvic region element biolink:AnatomicalEntity mondo An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. http://purl.obolibrary.org/obo/UBERON_0005179 pelvic element|pelvis region organ|pelvis organ MONDO:0008309 primary release disorder of platelets biolink:Disease mondo UMLS:C1867770|MESH:C566759|OMIM:176630|GARD:0010357 MESH:C566759|UMLS:C1867770|http://identifiers.org/omim/176630 http://purl.obolibrary.org/obo/MONDO_0008309 bleeding disorder due to primary defects in platelet release mechanism|primary release disorder of platelets gard_rare MONDO:0033309 Joubert syndrome 32 biolink:Disease mondo UMLS:CN596207|OMIM:617757|DOID:0080278 UMLS:CN596207|http://identifiers.org/omim/617757|DOID:0080278 http://purl.obolibrary.org/obo/MONDO_0033309 Joubert syndrome 32; JBTS32|JBTS32 MONDO:0033308 Joubert syndrome 30 biolink:Disease mondo DOID:0080275|OMIM:617622 http://identifiers.org/omim/617622|DOID:0080275 http://purl.obolibrary.org/obo/MONDO_0033308 JBTS30|Joubert syndrome 30; JBTS30 MONDO:0008308 priapism, familial idiopathic biolink:Disease mondo OMIM:176620|GARD:0010016|MESH:C531791|UMLS:C1867771 MESH:C531791|UMLS:C1867771|http://identifiers.org/omim/176620 http://purl.obolibrary.org/obo/MONDO_0008308 priapism, familial idiopathic|familial idiopathic priapism MONDO:0008307 presenile dementia, Kraepelin type biolink:Disease mondo UMLS:C1867772|OMIM:176600|MESH:C535273|GARD:0010032 MESH:C535273|UMLS:C1867772|http://identifiers.org/omim/176600 http://purl.obolibrary.org/obo/MONDO_0008307 Kraepelin disease|catatonia of Kraepelin|presenile dementia, Kraepelin type gard_rare MONDO:0008306 ABri amyloidosis biolink:Disease mondo GARD:0008344|ICD10:I68.0*|DOID:0070029|MESH:C538208|OMIM:176500|UMLS:C1867773|ICD10:E85.4+|Orphanet:97345 A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. DOID:0070029|MESH:C538208|ORPHA:97345|UMLS:C1867773|http://identifiers.org/omim/176500 http://purl.obolibrary.org/obo/MONDO_0008306 ABri amyloidosis|FBD|Bri amyloidosis|familial dementia, British type|dementia, familial British|ITM2B-related cerebral amyloid angiopathy 1|familial British dementia|cerebral amyloid angiopathy, British type|dementia familial British|presenile dementia with spastic ataxia|cerebral amyloid angiopathy, ITM2B-RELATED, 1|cerebral amyloid angiopathy, ITM2B-related, type 1 ordo_clinical_subtype|gard_rare MONDO:0008305 Currarino triad biolink:Disease mondo UMLS:C1531773|Orphanet:1552|OMIM:176450|GARD:0001626|SCTID:413936007|MESH:C536221|ICD10:Q87.8|ICD9:759.89 Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae). UMLS:C1531773|ORPHA:1552|MESH:C536221|SNOMEDCT:413936007|http://identifiers.org/omim/176450 http://purl.obolibrary.org/obo/MONDO_0008305 Scra1|Currarino syndrome|sacral agenesis syndrome|partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation|Currarino triad|CURRARINO syndrome|sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation ordo_malformation_syndrome MONDO:0008304 premature chromatid separation trait biolink:Disease mondo EFO:0009077|UMLS:C1864389|OMIM:176430 UMLS:C1864389|http://identifiers.org/omim/176430 http://purl.obolibrary.org/obo/MONDO_0008304 premature chromatid separation trait|total premature chromatid separation trait|premature chromatid separation trait; PCS|PCS MONDO:0011934 dermatofibrosarcoma protuberans biolink:Disease mondo ICDO:8832/3|Orphanet:31112|NCIT:C4683|GARD:0009569|SCTID:276799004|ONCOTREE:DFSP|ICD10:C49.9|MESH:D018223|OMIM:607907|UMLS:C0392784|MedDRA:10057070|DOID:3507 Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). UMLS:C0392784|MESH:C538219|ORPHA:31112|http://identifiers.org/omim/607907|MEDDRA:10057070|DOID:3507|MESH:D018223|SNOMEDCT:276799004|NCIT:C4683 http://purl.obolibrary.org/obo/MONDO_0011934 DFSP|dermatofibrosarcoma|dermatofibrosarcoma protuberans; DFSP|metastatic dermatofibrosarcoma protuberans (subtype)|familial dermatofibrosarcoma protuberans (subtype)|dermatofibrosarcoma protuberans|giant cell fibroblastoma gard_rare|ordo_disease PATO:0001402 multipotent biolink:OntologyClass mondo A cellular potency that is the capacity to form multiple differentiated cell types. http://purl.obolibrary.org/obo/PATO_0001402 MONDO:0008303 familial male-limited precocious puberty biolink:Disease mondo GARD:0004475|UMLS:C1504412|Orphanet:3000|MedDRA:10063656|ICD10:E30.1|MedDRA:10063654|OMIM:176410|SCTID:237818003 Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. SNOMEDCT:237818003|UMLS:C1504412|ORPHA:3000|MEDDRA:10063656|MEDDRA:10063654|UMLS:C0342549|MESH:C536961|http://identifiers.org/omim/176410 http://purl.obolibrary.org/obo/MONDO_0008303 precocious puberty, male-limited|peripheral precocious puberty caused by mutation in LHCGR|sexual precocity, familial, gonadotropin-independent|familial gonadotropin-independent male-limited sexual precocity|testotoxicosis|testotoxicosis, familial|FMPP|precocious puberty, male limited|male-limited precocious puberty|LHCGR peripheral precocious puberty|familial Testotoxicosis (subtype)|Leydig cell adenoma, somatic, with male-limited precocious puberty|pubertas praecox ordo_disease MONDO:0011935 retinitis pigmentosa 30 biolink:Disease mondo ICD10:H35.5|UMLS:C1842816|OMIM:607921|GARD:0010401|DOID:0110406 Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene. http://identifiers.org/omim/607921|DOID:0110406|UMLS:C1842816 http://purl.obolibrary.org/obo/MONDO_0011935 RP 30|retinitis pigmentosa type 30|retinitis pigmentosa 30; RP30|RP30|retinitis pigmentosa 30|macular Degeneration|retinitis pigmentosa caused by mutation in FSCN2|FSCN2 retinitis pigmentosa HGNC:28027 WDPCP biolink:OntologyClass mondo http://identifiers.org/hgnc/28027 MONDO:0008302 centra precocious puberty 1 biolink:Disease mondo UMLS:C3805879|OMIM:176400 Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene. UMLS:C3805879|http://identifiers.org/omim/176400 http://purl.obolibrary.org/obo/MONDO_0008302 central precocious puberty caused by mutation in KISS1R|precocious puberty, central, 1|precocious puberty, central, type 1|CPPB1|KISS1R central precocious puberty|precocious puberty, central, 1; CPPB1 MONDO:0011932 hypotrichosis 6 biolink:Disease mondo MESH:C564312|DOID:0110703|UMLS:C1842839|OMIM:607903 Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene. http://identifiers.org/omim/607903|MESH:C564312|UMLS:C1842839|DOID:0110703 http://purl.obolibrary.org/obo/MONDO_0011932 monilethrix-like hypotrichosis|hypotrichosis 6; HYPT6|hypotrichosis, localized, autosomal recessive 1|HYPT6|Lah1|hypotrichosis, localized, autosomal recessive|hypotrichosis 6|hypotrichosis type 6|monilethrix-like hypotrichosis|Htl|hypotrichosis caused by mutation in DSG4|DSG4 hypotrichosis|autosomal recessive localized hypotrichosis PATO:0001400 unipotent biolink:OntologyClass mondo A cellular potency that is the capacity to produce only one differentiated cell type. http://purl.obolibrary.org/obo/PATO_0001400 MONDO:0011933 ALG2-CDG biolink:Disease mondo ICD10:E77.8|Orphanet:79326|GARD:0009836|OMIM:607906 (9q31.1). Transmission is autosomal recessive. http://identifiers.org/omim/607906|ORPHA:79326 http://purl.obolibrary.org/obo/MONDO_0011933 CDG1I|ALG2-CDG (CDG-II)|congenital disorder of glycosylation, type II; CDG1I|CDG syndrome type II|congenital disorder of glycosylation type II|CDG II|carbohydrate-deficient glycoprotein syndrome type 1I|CDG 1I|mannosyltransferase 2 deficiency|congenital disorder of glycosylation type 1i|carbohydrate deficient glycoprotein syndrome type II|CDG-II|congenital disorder of glycosylation, type II ordo_disease PATO:0001401 oligopotent biolink:OntologyClass mondo A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. http://purl.obolibrary.org/obo/PATO_0001401 MONDO:0008301 Guttmacher syndrome biolink:Disease mondo Orphanet:2957|GARD:0004470|ICD10:Q87.2|UMLS:C1867801|OMIM:176305|MESH:C538278|SCTID:722452004 Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. MESH:C538278|ORPHA:2957|SNOMEDCT:722452004|http://identifiers.org/omim/176305|UMLS:C1867801 http://purl.obolibrary.org/obo/MONDO_0008301 preaxial deficiency, postaxial polydactyly, and hypospadias|Guttmacher syndrome|autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias|preaxial deficiency-postaxial polydactyly-hypospadias syndrome|preaxial deficiency, postaxial polydactyly and hypospadias ordo_malformation_syndrome MONDO:0011938 atrial heart septal defect 2 biolink:Disease mondo MESH:C538263|UMLS:C1842778|ICD10:Q21.1|OMIM:607941|DOID:0110107 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene. MESH:C538263|DOID:0110107|http://identifiers.org/omim/607941|UMLS:C1842778 http://purl.obolibrary.org/obo/MONDO_0011938 atrial heart septal defect type 2|ASD2|atrial heart septal defect caused by mutation in GATA4|atrial septal defect 2|atrial septal defect type 2|GATA4 atrial heart septal defect|atrial septal defect 2; ASD2 MONDO:0008300 Prader-Willi syndrome biolink:Disease mondo ICD10:Q87.1|NCIT:C75463|MedDRA:10036476|Orphanet:739|COHD:441963|OMIM:176270|ICD9:759.81|SCTID:89392001|UMLS:C0032897|MESH:D011218|DOID:11983|GARD:0005575 Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. UMLS:C0032897|MEDDRA:10036476|NCIT:C75463|MESH:D011218|ORPHA:739|http://identifiers.org/omim/176270|SNOMEDCT:89392001|DOID:11983 http://purl.obolibrary.org/obo/MONDO_0008300 Prader-Willi-Labhart syndrome|Willi-Prader syndrome|PWS|Prader-Willi-like syndrome associated with chromosome 6|Prader-Willi syndrome|Prader-Labhart-Willi syndrome|obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet|Prader-Willi syndrome; PWS|Prader Willi syndrome|Prader-Willi syndrome chromosome region|obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet gard_rare|ordo_disease MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation biolink:Disease mondo ICD10:Q77.7|MESH:C564307|SCTID:703523004|ICD9:756.9|Orphanet:50816|EFO:0002326|GARD:0004978|OMIM:607944|OMIM:271550|ICD9:759.89|UMLS:C1842763|Orphanet:1855 ORPHA:50816|ORPHA:1855|SNOMEDCT:703523004|http://identifiers.org/omim/607944|MESH:C564307|UMLS:C0432222|UMLS:C1842763|MESH:C535782|http://identifiers.org/omim/271550 http://purl.obolibrary.org/obo/MONDO_0011939 combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|SPENCD|spondyloenchondrodysplasia with immune dysregulation|spondylometaphyseal dysplasia with combined immunodeficiency|spondylometaphyseal dysplasia with enchondromatous changes|SPENCDI|spondyloenchondromatosis|spondyloenchondrodysplasia|Roifman Immunoskeletal syndrome|SEM ordo_malformation_syndrome|gard_rare PATO:0001407 mononucleate biolink:OntologyClass mondo A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. http://purl.obolibrary.org/obo/PATO_0001407 PATO:0001404 nucleate quality biolink:OntologyClass mondo A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. http://purl.obolibrary.org/obo/PATO_0001404 MONDO:0011936 microphthalmia with brain and digit anomalies biolink:Disease mondo OMIM:607932|ICD10:Q11.2|Orphanet:139471|SCTID:721878003|GARD:0003645|UMLS:C1864689|MESH:C566440|UMLS:C4303070 Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. MESH:C566440|UMLS:C4303070|http://identifiers.org/omim/607932|ORPHA:139471|UMLS:C1864689|SNOMEDCT:721878003 http://purl.obolibrary.org/obo/MONDO_0011936 microphthalmia syndromic 6|Bakrania-Ragge syndrome|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|microphthalmia, syndromic type 6|MCOPS6|microphthalmia and pituitary anomalies|microphthalmia, syndromic 6; MCOPS6|syndromic microphthalmia type 6|microphthalmia, syndromic 6|microphthalmia with brain and digit developmental anomalies|anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia ordo_malformation_syndrome MONDO:0011937 peeling skin syndrome 4 biolink:Disease mondo UMLS:C1842797|OMIM:607936|UMLS:C4225407|MESH:C564309 Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene. UMLS:C4225407|http://identifiers.org/omim/607936|MESH:C564309|UMLS:C1842797 http://purl.obolibrary.org/obo/MONDO_0011937 ichthyosis bullosa of Siemens-like|CSTA peeling skin syndrome|peeling skin syndrome 4|peeling skin syndrome type 4|ichthyosis, exfoliative, autosomal recessive|peeling skin syndrome 4; PSS4|PSS4|peeling skin syndrome caused by mutation in CSTA PATO:0001405 anucleate biolink:OntologyClass mondo A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. http://purl.obolibrary.org/obo/PATO_0001405 MONDO:0011941 mycobacterium tuberculosis, susceptibility to, 1 biolink:Disease mondo OMIM:607949 http://identifiers.org/omim/607949 http://purl.obolibrary.org/obo/MONDO_0011941 Mycobacterium tuberculosis, susceptibility to, type 1|mycobacterium tuberculosis, susceptibility to, 1|MTBS1 predisposition MONDO:0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1 biolink:Disease mondo OMIM:607965 http://identifiers.org/omim/607965 http://purl.obolibrary.org/obo/MONDO_0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1|SLEN1|systemic lupus erythematosus with nephritis, susceptibility to, 1; SLEN1 predisposition UBERON:0005162 multi cell part structure biolink:AnatomicalEntity mondo A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. http://purl.obolibrary.org/obo/UBERON_0005162 cell part cluster|multi-cell-part structure|multi-cell-component structure MONDO:0011940 mycobacterium tuberculosis, susceptibility to biolink:Disease mondo MESH:C536092|GARD:0002456|OMIM:607948 MESH:C536092|http://identifiers.org/omim/607948 http://purl.obolibrary.org/obo/MONDO_0011940 Mycobacterium tuberculosis, protection against|Mycobacterium tuberculosis, susceptibility to infection by|mycobacterium tuberculosis, susceptibility to predisposition|gard_rare UBERON:0005160 vestigial structure biolink:AnatomicalEntity mondo A remnant structure from earlier development or evolution. http://purl.obolibrary.org/obo/UBERON_0005160 NCBITaxon:55872 Dracunculoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_55872 MONDO:0033312 schizophrenia 19 biolink:Disease mondo DOID:0080281|UMLS:CN404275|OMIM:617629 DOID:0080281|UMLS:CN404275|http://identifiers.org/omim/617629 http://purl.obolibrary.org/obo/MONDO_0033312 SCZD19|schizophrenia 19; SCZD19|schizophrenia 19 with or without an affective disorder MONDO:0033311 Joubert syndrome 33 biolink:Disease mondo OMIM:617767|DOID:0080279|UMLS:CN601375 DOID:0080279|http://identifiers.org/omim/617767|UMLS:CN601375 http://purl.obolibrary.org/obo/MONDO_0033311 Joubert syndrome 33; JBTS33|JBTS33 MONDO:0033310 Joubert syndrome 31 biolink:Disease mondo DOID:0080277|OMIM:617761 DOID:0080277|http://identifiers.org/omim/617761 http://purl.obolibrary.org/obo/MONDO_0033310 JBTS31|Joubert syndrome 31; JBTS31 MONDO:0021331 carcinoma of parotid gland biolink:Disease mondo UMLS:C0345602|SCTID:254462001|EFO:1000460|NCIT:C6791 A carcinoma that involves the parotid gland. SNOMEDCT:254462001|UMLS:C0345602|NCIT:C6791 http://purl.obolibrary.org/obo/MONDO_0021331 carcinoma of parotid gland|parotid carcinoma|parotid gland cancer|carcinoma of the parotid gland|carcinoma of the parotid|parotid gland carcinoma|carcinoma of parotid MONDO:0021333 carcinoma of lip biolink:Disease mondo UMLS:C0149637|SCTID:269515006|NCIT:C3490 A carcinoma that involves the lip. UMLS:C0149637|NCIT:C3490|SNOMEDCT:269515006 http://purl.obolibrary.org/obo/MONDO_0021333 carcinoma of lip|lip cancer|carcinoma of the Lip|lip carcinoma MONDO:0021334 immunoproliferative disorder biolink:Disease mondo ICD9:203.80|MESH:D007160|SCTID:127071007|UMLS:C0021070 Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. MESH:D007160|SNOMEDCT:127071007|UMLS:C0021070 http://purl.obolibrary.org/obo/MONDO_0021334 Disorders, Immunoproliferative|Immunoproliferative disease|Immunoproliferative Disorder|immunoproliferative disorder|Immunoproliferative Disorders|Immunoproliferative disorder|Disorder, Immunoproliferative HGNC:31648 MIR96 biolink:OntologyClass mondo http://identifiers.org/hgnc/31648 MONDO:0021335 carcinoma of duodenum biolink:Disease mondo SCTID:254570009|NCIT:C4803 A carcinoma that involves the duodenum. SNOMEDCT:254570009|NCIT:C4803 http://purl.obolibrary.org/obo/MONDO_0021335 duodenal cancer|cancer of duodenum|cancer of the duodenum|carcinoma of the duodenum|carcinoma of duodenum|duodenal carcinoma|duodenum carcinoma MONDO:0008359 radio-renal syndrome biolink:Disease mondo MESH:C536267|GARD:0000224|Orphanet:3015|OMIM:179280|SCTID:766765009|UMLS:C2931146 Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. MESH:C536267|UMLS:C2931146|ORPHA:3015|SNOMEDCT:766765009|http://identifiers.org/omim/179280 http://purl.obolibrary.org/obo/MONDO_0008359 radial-renal syndrome|radio renal syndrome gard_rare|ordo_malformation_syndrome MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome biolink:Disease mondo OMIM:179270|GARD:0004627|Orphanet:3026|SCTID:232373003 Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. MESH:C536263|UMLS:C0339838|UMLS:C2931464|ORPHA:3026|SNOMEDCT:232373003|http://identifiers.org/omim/179270|MESH:C537280 http://purl.obolibrary.org/obo/MONDO_0008358 radial ray hypoplasia and choanal atresia|Goldblatt-Viljoen syndrome|radial RAY hypoplasia with choanal atresia|radial ray hypoplasia choanal atresia ordo_malformation_syndrome MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome biolink:Disease mondo ICD10:Q87.2|SCTID:716092007|Orphanet:2252|OMIM:179250|MESH:C536262|GARD:0004626 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. UMLS:C1867397|UMLS:C2931274|ORPHA:2252|http://identifiers.org/omim/179250|SNOMEDCT:716092007|MESH:C536262 http://purl.obolibrary.org/obo/MONDO_0008357 Schmitt-Gillenwater-Kelly syndrome|radial hypoplasia, triphalangeal thumbs and hypospadias|radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema ordo_malformation_syndrome|gard_rare MONDO:0008356 radial heads, posterior dislocation of biolink:Disease mondo MESH:C566728|OMIM:179200|UMLS:C1867398 MESH:C566728|UMLS:C1867398|http://identifiers.org/omim/179200 http://purl.obolibrary.org/obo/MONDO_0008356 radial heads, posterior dislocation of MONDO:0008355 IHPS1 biolink:Disease mondo OMIM:179010|UMLS:C1867403 UMLS:C1867403|http://identifiers.org/omim/179010 http://purl.obolibrary.org/obo/MONDO_0008355 pyloric stenosis, infantile hypertrophic, 1; IHPS1|IHPS1|pyloric stenosis, infantile|pyloric stenosis, infantile hypertrophic, 1|pyloric stenosis, infantile hypertrophic MONDO:0008354 purpura simplex biolink:Disease mondo SCTID:277791008|UMLS:C0272309|ICD9:287.2|GARD:0007508|OMIM:179000|MESH:C536249 SNOMEDCT:277791008|UMLS:C0272309|http://identifiers.org/omim/179000|MESH:C536249 http://purl.obolibrary.org/obo/MONDO_0008354 purpura simplex MONDO:0008353 pruritic urticarial papules and plaques of pregnancy biolink:Disease mondo ICD9:692.9|MESH:C535817|OMIM:178995|GARD:0009635|SCTID:88697005|Orphanet:64745|ICD9:646.80|MedDRA:10066100|ICD10:O26.8 http://identifiers.org/omim/178995|MESH:C535817|ORPHA:64745|UMLS:C0269680|MEDDRA:10066100|SNOMEDCT:88697005 http://purl.obolibrary.org/obo/MONDO_0008353 polymorphic eruption of pregnancy|pruritic urticarial papules and plaques of pregnancy, familial (subtype)|PUPPP|pruritic urticarial papules plaques of pregnancy|pruritic urticarial papules and plaques of pregnancy|pruritic urticarial papules and plaques of pregnancy; PUPPP ordo_disease NCBITaxon:2508209 Tobaniviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2508209 MONDO:0008352 pupillary membrane, persistence of biolink:Disease mondo OMIM:178900|MESH:C562700 http://identifiers.org/omim/178900|MESH:C562700 http://purl.obolibrary.org/obo/MONDO_0008352 pupillary membrane, persistence of GO:0043891 glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity biolink:OntologyClass mondo Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+. http://purl.obolibrary.org/obo/GO_0043891 triosephosphate dehydrogenase (NAD(P)+)|glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating)|NAD(P)-dependent glyceraldehyde-3-phosphate dehydrogenase activity|D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating)|triosephosphate dehydrogenase (NAD(P)) MONDO:0008351 pupil, egg-shaped biolink:Disease mondo OMIM:178800|MESH:C566731|GARD:0008291 MESH:C566731|http://identifiers.org/omim/178800 http://purl.obolibrary.org/obo/MONDO_0008351 ovoid pupils|pupil, egg-shaped|egg shaped pupils gard_rare MONDO:0008350 pulmonic stenosis and deafness biolink:Disease mondo UMLS:C1867406|OMIM:178651 http://identifiers.org/omim/178651|UMLS:C1867406 http://purl.obolibrary.org/obo/MONDO_0008350 pulmonic stenosis and deafness MONDO:0021326 malignant neoplasm of cervical esophagus biolink:Disease mondo SCTID:187722004|UMLS:C0496773|ICD9:150.0|NCIT:C4763 A cancer that involves the cervical part of esophagus. UMLS:C0496773|NCIT:C4763|SNOMEDCT:187722004 http://purl.obolibrary.org/obo/MONDO_0021326 cervical part of esophagus cancer|malignant neoplasm of cervical part of esophagus|malignant cervical part of esophagus neoplasm|malignant neoplasm of the cervical esophagus|cancer of cervical part of esophagus MONDO:0021327 carcinoma of urethra biolink:Disease mondo SCTID:448954003|NCIT:C9106 A carcinoma that involves the urethra. NCIT:C9106|SNOMEDCT:448954003 http://purl.obolibrary.org/obo/MONDO_0021327 urethra carcinoma|urethral carcinoma|urethral cancer|carcinoma of urethra|carcinoma of the urethra MONDO:0021329 carcinoma of soft palate biolink:Disease mondo NCIT:C8395|SCTID:254435009|UMLS:C0345555 A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas. SNOMEDCT:254435009|UMLS:C0345555|NCIT:C8395 http://purl.obolibrary.org/obo/MONDO_0021329 carcinoma of the soft palate|carcinoma of soft palate|soft palate cancer|soft palate carcinoma HGNC:18674 DDX41 biolink:OntologyClass mondo http://identifiers.org/hgnc/18674 HGNC:18672 CDK5RAP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18672 FOODON:03400129 refined or partially-refined food product (us cfr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0129 Extract, concentrate or isolate derived from a food source through one or more refining steps (see *EXTRACT, CONCENTRATE OR ISOLATE OF PLANT OR ANIMAL*) and marketed as such. [FDA CFSAN 1995] http://purl.obolibrary.org/obo/FOODON_03400129 MONDO:0021320 malignant tumor of floor of mouth biolink:Disease mondo SCTID:363385007|NCIT:C9318|ICD9:144.9|ICD9:144.8 A cancer that involves the mouth floor. NCIT:C9318|SNOMEDCT:363385007 http://purl.obolibrary.org/obo/MONDO_0021320 cancer of mouth floor|mouth floor cancer|malignant tumor of the floor of the mouth|malignant mouth floor neoplasm|malignant floor of mouth neoplasm|malignant neoplasm of the floor of the mouth|malignant neoplasm of mouth floor|malignant neoplasm of floor of mouth|malignant floor of the mouth neoplasm|malignant floor of the mouth tumor|malignant floor of mouth tumor MONDO:0021321 malignant tumor of extrahepatic bile duct biolink:Disease mondo ICD9:156.1|SCTID:363416002|UMLS:C0153453|ICD9:156.8|NCIT:C7483 A cancer that involves the extrahepatic bile duct. UMLS:C0153453|NCIT:C7483|SNOMEDCT:363416002 http://purl.obolibrary.org/obo/MONDO_0021321 malignant tumor of the extrahepatic bile duct|malignant extrahepatic bile duct neoplasm|malignant neoplasm of extrahepatic bile duct|cancer of extrahepatic bile duct|malignant neoplasm of the extrahepatic bile duct|malignant extrahepatic bile duct tumor|extrahepatic bile duct cancer FOODON:03412115 echinoderm biolink:OntologyClass mondo Echinoderm is the common name given to any member of the phylum *Echinodermata* of marine animals. The adults are recognizable by their (usually five-point) radial symmetry, and include such well-known animals as sea stars, sea urchins, sand dollars, and sea cucumbers, as well as the sea lilies or "stone lilies". [https://en.wikipedia.org/wiki/Echinoderm] http://purl.obolibrary.org/obo/FOODON_03412115 Echinodermata Klein, 1734|Echinodermata MONDO:0021322 malignant tumor of meninges biolink:Disease mondo SCTID:363497007|UMLS:C0348375|NCIT:C4628 A cancer that involves the meningeal cluster. UMLS:C0348375|NCIT:C4628|SNOMEDCT:363497007 http://purl.obolibrary.org/obo/MONDO_0021322 malignant neoplasm of meningeal cluster|meningeal cluster cancer|cancer of meninges|malignant meningeal cluster neoplasm|cancer of the meninges|malignant meningeal tumor|malignant tumor of the meninges|malignant meningeal neoplasms|malignant neoplasms of meninges|cancer of meningeal cluster|meningeal cancer|malignant meninges neoplasm|malignant neoplasm of meninges|meningeal tumors, malignant|malignant neoplasm of the meninges|malignant meninges tumor FOODON:03412112 mollusc biolink:OntologyClass mondo *Mollusca* is a large phylum of invertebrate animals whose members are known as molluscs or mollusks. Molluscs are the largest marine phylum, comprising about 23% of all the named marine organisms. Numerous molluscs also live in freshwater and terrestrial habitats. [https://en.wikipedia.org/wiki/Mollusca] http://purl.obolibrary.org/obo/FOODON_03412112 mollusk|Mollusca MONDO:0021323 malignant neoplasm of chest wall biolink:Disease mondo UMLS:C0346948|NCIT:C4580|SCTID:712750007 A cancer that involves the chest wall. SNOMEDCT:712750007|NCIT:C4580|UMLS:C0346948 http://purl.obolibrary.org/obo/MONDO_0021323 malignant chest wall tumor|malignant neoplasm of the chest wall|malignant neoplasm of chest wall|malignant tumor of chest wall|malignant chest wall neoplasm|malignant tumor of the chest wall|cancer of chest wall|chest wall cancer MONDO:0021324 malignant neoplasm of abdominal esophagus biolink:Disease mondo SCTID:187724003|ICD9:150.2|NCIT:C4764|UMLS:C0496775 A cancer that involves the abdominal part of esophagus. NCIT:C4764|UMLS:C0496775|SNOMEDCT:187724003 http://purl.obolibrary.org/obo/MONDO_0021324 malignant neoplasm of abdominal part of esophagus|malignant neoplasm of the abdominal esophagus|abdominal part of esophagus cancer|cancer of abdominal part of esophagus|malignant tumor of the abdominal esophagus|malignant abdominal part of esophagus neoplasm MONDO:0021325 malignant neoplasm of thoracic esophagus biolink:Disease mondo NCIT:C3532|ICD9:150.1|SCTID:187723009|UMLS:C0153411 A cancer that involves the thoracic part of esophagus. UMLS:C0153411|NCIT:C3532|SNOMEDCT:187723009 http://purl.obolibrary.org/obo/MONDO_0021325 malignant thoracic part of esophagus neoplasm|malignant neoplasm of the thoracic esophagus|cancer of thoracic part of esophagus|thoracic part of esophagus cancer|malignant neoplasm of thoracic part of esophagus MONDO:0008369 proximal renal tubular acidosis biolink:Disease mondo Orphanet:47159|SCTID:24790002|OMIM:179830|MedDRA:10037080|ICD10:N25.8|ICD9:588.89 Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. SNOMEDCT:24790002|ORPHA:47159|MEDDRA:10037080|http://identifiers.org/omim/179830 http://purl.obolibrary.org/obo/MONDO_0008369 renal tubular acidosis, proximal|RTA, rate type|Type 2 renal tubular acidosis|renal tubular acidosis type 2|pRTA|Type 2 RTA|renal tubular acidosis 2|RTA, proximal type ordo_disease MONDO:0011998 autosomal dominant slowed nerve conduction velocity biolink:Disease mondo ICD10:G60.0|SCTID:764854006|MESH:C564269|Orphanet:140481|OMIM:608236|UMLS:C1842357 Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. SNOMEDCT:764854006|ORPHA:140481|http://identifiers.org/omim/608236|UMLS:C1842357|MESH:C564269 http://purl.obolibrary.org/obo/MONDO_0011998 slowed nerve conduction velocity, autosomal dominant; SNCV|slowed nerve conduction velocity, autosomal dominant|SNCV ordo_disease MONDO:0008368 autosomal dominant distal renal tubular acidosis biolink:Disease mondo Orphanet:93608|OMIM:179800|GARD:0004668|ICD10:N25.8 Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. UMLS:C2931885|ORPHA:93608|MESH:C538565|http://identifiers.org/omim/179800 http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant SLC4A1-associated distal renal tubular acidosis|distal renal tubular acidosis (disease), autosomal dominant|RTA, distal type, autosomal dominant|renal tubular acidosis 1|RTA, classic type|AD dRTA|renal tubular acidosis, distal, autosomal dominant|RTA, gradient type|autosomal dominant distal renal tubular acidosis (disease) ordo_clinical_subtype MONDO:0008367 red cell phospholipid defect with hemolysis biolink:Disease mondo MESH:C535298|OMIM:179700|UMLS:C1867339|GARD:0010013 UMLS:C1867339|http://identifiers.org/omim/179700|MESH:C535298 http://purl.obolibrary.org/obo/MONDO_0008367 red cell phospholipid defect with hemolysis|HPCHA|leaky Red cell syndrome|phosphatidylcholine Red cell Membrane disorder|high Red cell phosphatidylcholine hemolytic Anemia gard_rare MONDO:0011999 OTSC3 biolink:Disease mondo OMIM:608244|MESH:C564268|UMLS:C1842353 http://identifiers.org/omim/608244|MESH:C564268|UMLS:C1842353 http://purl.obolibrary.org/obo/MONDO_0011999 otosclerosis 3|otosclerosis 3; OTSC3|OTSC3 MONDO:0008366 red cell permeability defect biolink:Disease mondo OMIM:179650|UMLS:C1867340 http://identifiers.org/omim/179650|UMLS:C1867340 http://purl.obolibrary.org/obo/MONDO_0008366 red cell permeability defect|elliptocytosis with transverse slitlike changes MONDO:0008365 recombinant 8 syndrome biolink:Disease mondo OMIM:179613|MESH:C535296|GARD:0009698|ICD10:Q99.8|UMLS:C0795822|Orphanet:96167|SCTID:718189004 Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. SNOMEDCT:718189004|UMLS:C0795822|http://identifiers.org/omim/179613|ORPHA:96167|MESH:C535296 http://purl.obolibrary.org/obo/MONDO_0008365 San Luis Valley syndrome|San Luis Valley recombinant chromosome 8 syndrome|Rec(8) syndrome|Duplication 8q/deletion 8p|chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion|Recombinant chromosome 8 syndrome|Rec8 syndrome|RECOMBINANT chromosome 8 syndrome ordo_malformation_syndrome MONDO:0008364 Raynaud disease biolink:Disease mondo MESH:D011928|COHD:314962|UMLS:C0034734|ICD9:443.0|OMIM:179600|NCIT:C116359|EFO:1001145|SCTID:195295006|ICD10:I73.0|DOID:10300 An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. MESH:D011928|UMLS:C0034734|DOID:10300|SNOMEDCT:195295006|http://identifiers.org/omim/179600|NCIT:C116359 http://purl.obolibrary.org/obo/MONDO_0008364 Raynaud syndrome|Raynaud's syndrome (disorder) [ambiguous]|secondary Raynaud disease|secondary Raynaud's phenomenon|Raynaud's syndrome|secondary Raynaud's disease|Raynaud's disease|secondary Raynaud phenomenon|Raynaud disease|cold fingers, hereditary MONDO:0008363 raindrop hypopigmentation biolink:Disease mondo MESH:C566724|OMIM:179500 http://identifiers.org/omim/179500|MESH:C566724 http://purl.obolibrary.org/obo/MONDO_0008363 raindrop hypopigmentation MONDO:0008362 ragweed sensitivity biolink:Disease mondo MESH:C566725|OMIM:179450 http://identifiers.org/omim/179450|MESH:C566725 http://purl.obolibrary.org/obo/MONDO_0008362 ragweed sensitivity MONDO:0008361 radius, aplasia of, with cleft lip/palate biolink:Disease mondo UMLS:C1867395|OMIM:179400 http://identifiers.org/omim/179400|UMLS:C1867395 http://purl.obolibrary.org/obo/MONDO_0008361 radius, aplasia of, with cleft lip/palate MONDO:0008360 obsolete radioulnar synostosis (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008360 MONDO:0021315 malignant tumor of nasopharynx biolink:Disease mondo UMLS:C0153392|NCIT:C9321|ICD9:147.9|SCTID:187692001|UMLS:C0238301|ICD9:147.8 A cancer that involves the nasopharynx. UMLS:C0153392|SNOMEDCT:187692001|UMLS:C0238301|NCIT:C9321 http://purl.obolibrary.org/obo/MONDO_0021315 cancer of nasopharynx|malignant neoplasm of the nasopharynx|nasopharynx cancer|malignant nasopharyngeal tumor|malignant nasopharynx neoplasm|malignant tumor of the nasopharynx|malignant neoplasm of nasopharynx|malignant nasopharyngeal neoplasm MONDO:0021316 malignant tumor of minor salivary gland biolink:Disease mondo SCTID:363485006|NCIT:C4410|UMLS:C0345614 A cancer that involves the minor salivary gland. NCIT:C4410|SNOMEDCT:363485006|UMLS:C0345614 http://purl.obolibrary.org/obo/MONDO_0021316 cancer of minor salivary gland|minor salivary gland cancer|malignant tumor of the minor salivary gland|malignant minor salivary gland neoplasm|malignant neoplasm of minor salivary gland|malignant neoplasm of the minor salivary gland|malignant minor salivary gland tumor MONDO:0021317 cancer of cerebellum biolink:Disease mondo NCIT:C3569|SCTID:449420002|ICD9:191.6 A cancer that involves the cerebellum. NCIT:C3569|SNOMEDCT:449420002 http://purl.obolibrary.org/obo/MONDO_0021317 malignant cerebellar tumor|cancer of the cerebellum|cerebellar cancer|malignant tumor of cerebellum|malignant tumor of the cerebellum|malignant cerebellar neoplasms|malignant neoplasm of cerebellum|cerebellar tumor, malignant|malignant neoplasm of the cerebellum|cerebellum cancer|cancer of cerebellum|cerebellar neoplasm, malignant|malignant cerebellar neoplasm|malignant cerebellum neoplasm HGNC:18688 CRB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18688 HGNC:18683 EIF4A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/18683 MONDO:0021310 malignant tumor of neck biolink:Disease mondo SCTID:363489000|UMLS:C0746787|NCIT:C4940 A cancer that involves the neck. UMLS:C0746787|NCIT:C4940|SNOMEDCT:363489000 http://purl.obolibrary.org/obo/MONDO_0021310 malignant neoplasm of neck|malignant neck tumor|malignant neoplasm of the neck|cancer of neck|malignant neck neoplasm|neck cancer|cancer of the neck|malignant tumor of the neck MONDO:0021311 malignant tumor of parathyroid gland biolink:Disease mondo SCTID:363481002|ICD9:194.1|ONCOTREE:PTH|NCIT:C9322 A cancer that involves the parathyroid gland. NCIT:C9322|SNOMEDCT:363481002 http://purl.obolibrary.org/obo/MONDO_0021311 malignant neoplasm of parathyroid|malignant parathyroid tumor|malignant parathyroid neoplasm|malignant parathyroid gland neoplasm|malignant tumor of the parathyroid gland|malignant neoplasm of parathyroid gland|parathyroid cancer|malignant tumor of the parathyroid|parathyroid gland cancer|malignant tumor of parathyroid|cancer of parathyroid gland|malignant neoplasm of the parathyroid gland|malignant parathyroid gland tumor|malignant neoplasm of the parathyroid MONDO:0021312 malignant tumor of adrenal cortex biolink:Disease mondo NCIT:C9327|SCTID:371964008 A cancer that involves the adrenal cortex. NCIT:C9327|SNOMEDCT:371964008 http://purl.obolibrary.org/obo/MONDO_0021312 malignant adrenal cortex tumor|malignant neoplasm of the adrenal cortex|malignant neoplasm of adrenal cortex|adrenal cortex cancer|malignant adrenocortical neoplasm|malignant adrenal cortex neoplasm|malignant adrenocortical tumor|cancer of adrenal cortex|malignant tumor of the adrenal cortex MONDO:0008339 antecubital pterygium syndrome biolink:Disease mondo GARD:0004570|UMLS:C1867439|Orphanet:2987|MESH:C566738|OMIM:178200 ORPHA:2987|http://identifiers.org/omim/178200|MESH:C566738|UMLS:C1867439 http://purl.obolibrary.org/obo/MONDO_0008339 antecubital pterygium|pterygium antecubital|pterygium, antecubital clingen|ordo_malformation_syndrome MONDO:0021313 eyelid cancer biolink:Disease mondo SCTID:231829006|NCIT:C6786|ICD9:173.1 A cancer that involves the eyelid. SNOMEDCT:231829006|NCIT:C6786 http://purl.obolibrary.org/obo/MONDO_0021313 malignant eyelid neoplasm|cancer of eyelid|malignant tumor of eyelid|malignant tumor of the eyelid|malignant neoplasm of eyelid|malignant eyelid tumor|malignant neoplasm of the eyelid|eyelid cancer MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A biolink:Disease mondo OMIM:178110|ICD10:Q79.8|GARD:0013058|UMLS:C1867440|Orphanet:65743|MESH:C566739 http://identifiers.org/omim/178110|MESH:C566739|UMLS:C1867440|ORPHA:65743 http://purl.obolibrary.org/obo/MONDO_0008338 DA8|pterygium syndrome, multiple, autosomal dominant|arthrogryposis, distal, type 8; DA8|distal arthrogryposis type 8|arthrogryposis, distal, type 8|multiple pterygium syndrome, autosomal dominant gard_rare|ordo_malformation_syndrome MONDO:0011989 leishmaniasis biolink:Disease mondo GARD:0006881|MESH:D007896|UMLS:C0023281|ICD9:085.9|EFO:0005044|ICD10:B55.9|SCTID:80612004|ICD10:B55|ICD10:B55.2|ICD10:B55.1|NCIT:C34767|COHD:433407|DOID:9065|ICD10:B55.0|Orphanet:507|ICD9:085|MedDRA:10024198 Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration). UMLS:C0023281|MESH:D007896|DOID:9065|SNOMEDCT:80612004|MEDDRA:10024198|NCIT:C34767|ORPHA:507 http://purl.obolibrary.org/obo/MONDO_0011989 post-kala-azar dermal infectious disease by leishmaniasis|post-kala-azar dermal leishmaniasis|post kala-Azar dermal leishmaniasis|visceral leishmaniasis (subtype)|cutaneous leishmaniasis (subtype) ordo_disease MONDO:0008337 familial pterygium of the conjunctiva biolink:Disease mondo ICD10:H11.0|UMLS:C1867441|GARD:0004569|Orphanet:2989|MESH:C566740|OMIM:178000 Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. http://identifiers.org/omim/178000|ORPHA:2989|MESH:C566740|UMLS:C1867441 http://purl.obolibrary.org/obo/MONDO_0008337 pterygium of conjunctiva and cornea|pterygium of the conjunctiva and cornea ordo_morphological_anomaly MONDO:0008336 pterygium colli, isolated biolink:Disease mondo OMIM:177990|UMLS:C1867442|MESH:C566741 MESH:C566741|UMLS:C1867442|http://identifiers.org/omim/177990 http://purl.obolibrary.org/obo/MONDO_0008336 pterygium colli, isolated MONDO:0011987 cone-rod dystrophy 13 biolink:Disease mondo UMLS:C2750720|DOID:0111016|OMIM:608194|MESH:C567698 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene. UMLS:C2750720|http://identifiers.org/omim/608194|MESH:C567698|DOID:0111016 http://purl.obolibrary.org/obo/MONDO_0011987 RPGRIP1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in RPGRIP1|CORD13|cone-rod dystrophy 13; CORD13|cone-rod dystrophy type 13|cone-rod dystrophy 13 MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome biolink:Disease mondo UMLS:C1867443|MESH:C535844|ICD10:Q87.8|OMIM:177980|SCTID:716090004|Orphanet:2994|GARD:0002605 Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. ORPHA:2994|SNOMEDCT:716090004|UMLS:C1867443|MESH:C535844|http://identifiers.org/omim/177980 http://purl.obolibrary.org/obo/MONDO_0008335 pterygia, intellectual disability, and distinctive craniofacial features|Haspeslagh-Fryns-Muelenaere syndrome|pterygia, mental retardation and distinctive craniofacial features|Haspeslagh syndrome|pterygia, mental retardation, and distinctive craniofacial features|pterygia, intellectual disability and distinctive craniofacial features|pterygia mental retardation facial dysmorphism|pterygia intellectual disability facial dysmorphism ordo_malformation_syndrome MONDO:0011988 neutrophil immunodeficiency syndrome biolink:Disease mondo MESH:C564275|UMLS:C1842398|SCTID:723443003|ICD10:D71|Orphanet:183707|OMIM:608203 Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. ORPHA:183707|http://identifiers.org/omim/608203|SNOMEDCT:723443003|UMLS:C1842398|MESH:C564275 http://purl.obolibrary.org/obo/MONDO_0011988 neutrophil immunodeficiency syndrome ordo_disease MONDO:0008334 psoriasis 1, susceptibility to biolink:Disease mondo OMIM:177900 Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene. http://identifiers.org/omim/177900 http://purl.obolibrary.org/obo/MONDO_0008334 psoriasis 1, susceptibility to; PSORS1|HLA-C psoriasis|susceptibility to psoriasis 1|psoriasis caused by mutation in HLA-C|psoriasis 1, susceptibility to|PSORS1 predisposition MONDO:0008333 pseudoxanthoma elasticum, forme fruste biolink:Disease mondo GARD:0010104|OMIM:177850 An autosomal dominant form of PXE. http://identifiers.org/omim/177850 http://purl.obolibrary.org/obo/MONDO_0008333 pseudoxanthoma elasticum, heterozygous|pseudoxanthoma elasticum, forme fruste gard_rare MONDO:0008332 pseudo-von Willebrand disease biolink:Disease mondo MESH:C536458|ICD10:D69.8|Orphanet:52530|DOID:0111056|NCIT:C131681|GARD:0008312|OMIM:177820 Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. DOID:0111056|MESH:C536458|http://identifiers.org/omim/177820|NCIT:C131681|ORPHA:52530 http://purl.obolibrary.org/obo/MONDO_0008332 pseudo-von Willebrand disease type 2B|PT-VWD|platelet-type bleeding disorder 3|pseudo-VON WILLEBRAND disease; VWDP|VWDP|pseudo-von Willebrand disease|platelet type-von Willebrand disease|bleeding disorder, Platelet-type, 3|Von Willebrand disease, platelet type|von Willebrand disease platelet-type|Platelet type-von Willebrand disease|Von Willebrand disease, Platelet-type|BDPLT3|Platelet-type von Willebrand disease ordo_disease MONDO:0008331 obsolete pseudopapilledema (disease) biolink:Disease mondo COHD:436702|UMLS:C0155300|ICD9:377.24|Orphanet:519339|SCTID:57138009|DOID:1392|OMIM:177800|MESH:C562401 Apparent optic disc swelling in the absence of increased intracranial pressure. SNOMEDCT:57138009|UMLS:C0155300|http://identifiers.org/omim/177800|DOID:1392|ORPHA:519339|MESH:C562401 http://purl.obolibrary.org/obo/MONDO_0008331 crowded optic disc|pseudopapilledema MONDO:0008330 pseudomonilethrix biolink:Disease mondo SCTID:254229006|MESH:C562988|UMLS:C0432346|OMIM:177750 UMLS:C0432346|http://identifiers.org/omim/177750|MESH:C562988|SNOMEDCT:254229006 http://purl.obolibrary.org/obo/MONDO_0008330 pseudomonilethrix MONDO:0011992 hereditary spastic paraplegia 25 biolink:Disease mondo OMIM:608220|SCTID:732933009|ICD10:G11.4|MESH:C536861|GARD:0009582|UMLS:C4518003|UMLS:C2936860|DOID:0110776|Orphanet:101005 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. UMLS:C4518003|SNOMEDCT:732933009|http://identifiers.org/omim/608220|UMLS:C2936860|MESH:C536861|DOID:0110776|ORPHA:101005 http://purl.obolibrary.org/obo/MONDO_0011992 SPG25|spinal disc herniation with autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia-disc herniation syndrome|spastic paraplegia 25|autosomal recessive spastic paraplegia type 25|Disc herniation with spastic paraplegia, autosomal recessive|spastic paraplegia 25, autosomal recessive|autosomal recessive spastic paraplegia 25|spastic paraplegia 25, autosomal recessive; SPG25|hereditary spastic paraplegia type 25 ordo_disease FOODON:03400148 milk or milk product (us cfr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0148 Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*. http://purl.obolibrary.org/obo/FOODON_03400148 MONDO:0011993 aspirin resistance biolink:Disease mondo OMIM:608223 http://identifiers.org/omim/608223 http://purl.obolibrary.org/obo/MONDO_0011993 aspirin, resistance to Cardioprotective Effect of|aspirin resistance|aspirin, resistance to Antithrombotic Effect of MONDO:0011990 BFNS3 biolink:Disease mondo UMLS:C1842382|OMIM:608217|MESH:C564274 http://identifiers.org/omim/608217|UMLS:C1842382|MESH:C564274 http://purl.obolibrary.org/obo/MONDO_0011990 BFNS3|seizures, benign familial neonatal, 3; BFNS3|convulsions, benign familial neonatal, 3|seizures, benign familial neonatal, 3 NCBITaxon:55824 Hirudinea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_55824 leeches MONDO:0011991 autosomal recessive nonsyndromic deafness 38 biolink:Disease mondo ICD10:H90.3|DOID:0110496|UMLS:C1842381|OMIM:608219|MESH:C564273 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27. http://identifiers.org/omim/608219|UMLS:C1842381|MESH:C564273|DOID:0110496 http://purl.obolibrary.org/obo/MONDO_0011991 autosomal recessive nonsyndromic deafness type 38|deafness, autosomal recessive 38; DFNB38|autosomal recessive deafness 38|DFNB38|deafness, autosomal recessive 38 MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive biolink:Disease mondo MedDRA:10009013|OMIM:608232|UMLS:C0023473|GARD:0006105|EFO:0000339|DOID:8552|ICDO:9875/3|ICDO:9863/3|COHD:134603|KEGG:05220|ICD9:205.1|Orphanet:521|ICD10:C92.1|ONCOTREE:CML|NCIT:C3174 A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. MEDDRA:10009013|NCIT:C3174|DOID:8552|http://identifiers.org/omim/608232|ORPHA:521|UMLS:C0023473 http://purl.obolibrary.org/obo/MONDO_0011996 chronic granulocytic leukemia|myeloid leukemia, chronic|chronic myeloid leukemia|chronic myelocytic leukemia|leukemia, chronic myeloid|CML - chronic myelogenous leukemia|leukemia, chronic myeloid; CML|BCR-ABL Positive chronic myelogenous leukemia|hematopoeitic - chronic myelocytic leukemia (CML)|chronic myelogenous leukemia, BCR-ABL1 Positive|chronic myelogenous leukemias|leukemia, chronic myeloid, atypical|CML|leukemia, chronic myelogenous|CML|chronic myelogenous leukemia (CML)|chronic myelogenous leukemia ordo_disease MONDO:0011997 Hermansky-Pudlak syndrome 2 biolink:Disease mondo GARD:0009435|UMLS:C1842362|MESH:C537709|DOID:0060540|ICD10:E70.3|Orphanet:183678|OMIM:608233|NCIT:C150368 Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. DOID:0060540|ORPHA:183678|http://identifiers.org/omim/608233|NCIT:C150368|MESH:C537709|UMLS:C1842362 http://purl.obolibrary.org/obo/MONDO_0011997 Hermansky-Pudlak syndrome 2|Hermansky-Pudlak syndrome with neutropenia|Hermansky-Pudlak syndrome type 2|Hermansky-Pudlak syndrome 2; HPS2|HPS2|AP3B1 Hermansky-Pudlak syndrome|Hermansky Pudlak syndrome 2|Hermansky-Pudlak syndrome caused by mutation in AP3B1|Platelet defects and oculocutaneous albinism gard_rare|ordo_clinical_subtype MONDO:0011994 autosomal dominant nonsyndromic deafness 41 biolink:Disease mondo OMIM:608224|UMLS:C1842371|ICD10:H90.3|DOID:0110567|MESH:C564272 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene. http://identifiers.org/omim/608224|MESH:C564272|UMLS:C1842371|DOID:0110567 http://purl.obolibrary.org/obo/MONDO_0011994 autosomal dominant nonsyndromic deafness type 41|autosomal dominant deafness 41|deafness, autosomal dominant 41|P2RX2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in P2RX2|deafness, autosomal dominant 41; DFNA41|deafness, autosomal dominant type 41|DFNA41 HGNC:18658 NUP205 biolink:OntologyClass mondo http://identifiers.org/hgnc/18658 MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome biolink:Disease mondo Orphanet:314993|MESH:C564271|UMLS:C1842363|OMIM:608227 Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. ORPHA:314993|http://identifiers.org/omim/608227|UMLS:C1842363|MESH:C564271 http://purl.obolibrary.org/obo/MONDO_0011995 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability|craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation ordo_malformation_syndrome HGNC:18654 RTTN biolink:OntologyClass mondo http://identifiers.org/hgnc/18654 MONDO:0021307 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021307 MONDO:0021309 malignant neoplasm of endocervix biolink:Disease mondo ICD9:180.0|ICD10:C53.0|SCTID:372097009|NCIT:C3553 A cancer that involves the endocervix. SNOMEDCT:372097009|NCIT:C3553 http://purl.obolibrary.org/obo/MONDO_0021309 malignant endocervical neoplasm|malignant neoplasm of uterine endocervix|malignant uterine endocervix tumor|malignant neoplasm of the uterine endocervix|cancer of endocervix|endocervix cancer|malignant uterine endocervix neoplasm|malignant tumor of endocervix|malignant endocervix neoplasm|malignant tumor of the endocervix|malignant endocervical tumor|malignant tumor of uterine endocervix|malignant tumor of the uterine endocervix|malignant neoplasm of endocervix|malignant endocervix tumor|malignant neoplasm of the endocervix MONDO:0021300 adenoid cystic carcinoma of oropharynx biolink:Disease mondo NCIT:C6241|SCTID:423318000|UMLS:C1335139 A adenoid cystic carcinoma that involves the oropharynx. NCIT:C6241|SNOMEDCT:423318000|UMLS:C1335139 http://purl.obolibrary.org/obo/MONDO_0021300 adenoid cystic carcinoma of the oropharynx|oropharynx adenoid cystic carcinoma|oropharyngeal adenoid cystic carcinoma|oropharyngeal throat adenoid cystic cancer MONDO:0021301 adenoma of nipple biolink:Disease mondo ICDO:8506/0|NCIT:C4192|UMLS:C0334378|SCTID:302829009 A adenoma that involves the nipple. NCIT:C4192|UMLS:C0334378|SNOMEDCT:302829009 http://purl.obolibrary.org/obo/MONDO_0021301 subareolar duct papillomatosis|papillomatosis, subareolar duct|adenoma of the nipple|nipple adenoma MONDO:0021303 adenoma of small intestine biolink:Disease mondo NCIT:C5340|UMLS:C1302392|SCTID:399422005 A adenoma that involves the small intestine. NCIT:C5340|SNOMEDCT:399422005|UMLS:C1302392 http://purl.obolibrary.org/obo/MONDO_0021303 small bowel adenoma|small intestine adenoma|adenoma of the small bowel|adenoma of small bowel|small intestinal adenoma|adenoma of the small intestine MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities biolink:Disease mondo MESH:C566733|OMIM:178650|UMLS:C1867407 MESH:C566733|http://identifiers.org/omim/178650|UMLS:C1867407 http://purl.obolibrary.org/obo/MONDO_0008349 Ciuffo syndrome|pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities MONDO:0008348 pulmonary nodular lymphoid hyperplasia biolink:Disease mondo UMLS:C1334969|OMIM:178610|SCTID:718097008|Orphanet:60026|UMLS:C1867419 Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. ORPHA:60026|http://identifiers.org/omim/178610|UMLS:C1867419|SNOMEDCT:718097008|UMLS:C1334969 http://purl.obolibrary.org/obo/MONDO_0008348 pulmonary pseudolymphoma|pulmonary nodular lymphoid hyperplasia, familial ordo_disease MONDO:0011978 CoQ-responsive OXPHOS deficiency biolink:Disease mondo UMLS:C1842463|GARD:0010240|OMIM:608158|MESH:C535470 UMLS:C1842463|MESH:C535470|http://identifiers.org/omim/608158 http://purl.obolibrary.org/obo/MONDO_0011978 CoQ-responsive oxidative phosphorylation disorder|CoQ-responsive OXPHOS deficiency n_of_one MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension biolink:Disease mondo ICD10:I27.0|Orphanet:422|UMLS:CN205068 Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown. ORPHA:422|UMLS:CN205068 http://purl.obolibrary.org/obo/MONDO_0008347 pulmonary hypertension, primary, 1|PPH1|IFPAH|pulmonary hypertension, primary, type 1 ordo_disease MONDO:0011979 adult-onset foveomacular vitelliform dystrophy biolink:Disease mondo SCTID:232049001|ICD10:H35.5|UMLS:C1842914|GARD:0010909|Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. UMLS:C1842914|ORPHA:99000|SNOMEDCT:232049001 http://purl.obolibrary.org/obo/MONDO_0011979 VMD3|foveomacular dystrophy, adult-onset, with choroidal neovascularization|Gass disease|adult-onset foveomacular dystrophy with choroidal neovascularization|AOFMD|foveomacular dystrophy, adult-onset; AOFMD|macular dystrophy, vitelliform, adult-onset|pseudo-Best disease|pseudo-vitelliform macular dystrophy|adult-onset foveomacular dystrophy|AVMD|adult-onset vitelliform macular dystrophy|macular dystrophy, vitelliform, type 3|macular dystrophy, vitelliform, 3 ordo_disease MONDO:0008346 pulmonary hemosiderosis biolink:Disease mondo ICD10:J99.8*|DOID:10328|SCTID:40527005|DOID:12118|GARD:0007645|ICD10:J84.03|Orphanet:99931|ICD10:J63.4|ICD9:516.1|GARD:0006763|COHD:438782|MESH:D012806|OMIM:178550|ICD10:E83.1+ Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients. MESH:C536281|ORPHA:99931|http://identifiers.org/omim/178550|MESH:D012806|DOID:12118|DOID:10328|UMLS:C0020807|SNOMEDCT:40527005 http://purl.obolibrary.org/obo/MONDO_0008346 siderosis|pulmonary siderosis|idiopathic pulmonary hemosiderosis|pulmonary hemosiderosis|alveolar hypoventilation syndrome|brown lung|brown induration ordo_disease|gard_rare MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome biolink:Disease mondo MESH:C564283|Orphanet:50811|ICD10:Q78.8|OMIM:608154|SCTID:721973006 Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. MESH:C564283|SNOMEDCT:721973006|http://identifiers.org/omim/608154|ORPHA:50811 http://purl.obolibrary.org/obo/MONDO_0011976 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones|Rajab-Spranger syndrome|lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones ordo_disease MONDO:0008345 idiopathic pulmonary fibrosis biolink:Disease mondo Orphanet:2032|SCTID:196125002|NCIT:C35716|COHD:45763750|EFO:0000768|DOID:0050156|ICD10:J84.1|ICD10:J84.112|OMIM:178500|ICD9:516.31|MESH:D054990|GARD:0008609|MedDRA:10021240 Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause. DOID:0050156|NCIT:C35716|http://identifiers.org/omim/178500|MEDDRA:10021240|MESH:D054990|SNOMEDCT:196125002|ORPHA:2032 http://purl.obolibrary.org/obo/MONDO_0008345 interstitial pneumonitis, usual|familial idiopathic pulmonary fibrosis|Hamman-rich disease|pulmonary fibrosis, idiopathic|IPF|pulmonary fibrosis, idiopathic; IPF|CFA|fibrocystic pulmonary dysplasia|UIP|cryptogenic fibrosing alveolitis|fibrosing alveolitis, cryptogenic|fibrosing alveolitis|idiopathic pulmonary fibrosis, familial|usual interstitial pneumonia gard_rare|ordo_disease MONDO:0011977 8q22.1 microdeletion syndrome biolink:Disease mondo SCTID:719664004|OMIM:608156|GARD:0004722|MESH:C536110|Orphanet:178303|UMLS:C1842464|ICD10:Q93.5 The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. UMLS:C1842464|SNOMEDCT:719664004|ORPHA:178303|http://identifiers.org/omim/608156|MESH:C536110 http://purl.obolibrary.org/obo/MONDO_0011977 NABLUS mask-like facial syndrome; NMLFS|monosomy 8q22.1|chromosome 8Q22.1 deletion syndrome|NMLFS|NABLUS mask-like facial syndrome|Nablus mask-like facial syndrome ordo_malformation_syndrome MONDO:0008344 pulmonary edema of mountaineers, susceptibility to biolink:Disease mondo SCTID:233954004|GARD:0008348|ICD9:993.2|OMIM:178400|ICD9:416.8|MESH:C535833 http://identifiers.org/omim/178400|MESH:C535833|SNOMEDCT:233954004 http://purl.obolibrary.org/obo/MONDO_0008344 pulmonary edema of mountaineers, susceptibility to|pulmonary edema of mountaineers|HAPH|high altitude pulmonary hypertension predisposition MONDO:0008343 pulmonary atresia with ventricular septal defect biolink:Disease mondo GARD:0004588|SCTID:253591008|MESH:C562833|ICD10:Q25.5|UMLS:C0344976|Orphanet:1207|OMIM:178370|NCIT:C99033 Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot. UMLS:C0344976|http://identifiers.org/omim/178370|NCIT:C99033|MESH:C562833|ORPHA:1207|SNOMEDCT:253591008 http://purl.obolibrary.org/obo/MONDO_0008343 pulmonary atresia with ventricular septal defect|pulmonary valve atresia with ventricular septal defect ordo_morphological_anomaly|gard_rare MONDO:0008342 pubic bone dysplasia biolink:Disease mondo OMIM:178350|UMLS:C1867436|MESH:C566735 MESH:C566735|UMLS:C1867436|http://identifiers.org/omim/178350 http://purl.obolibrary.org/obo/MONDO_0008342 pubic bone dysplasia MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome biolink:Disease mondo Orphanet:2999|UMLS:C1867437|MESH:C566736|OMIM:178330|GARD:0004577 Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. UMLS:C1867437|ORPHA:2999|http://identifiers.org/omim/178330|MESH:C566736 http://purl.obolibrary.org/obo/MONDO_0008341 ptosis, strabismus, and ectopic pupils|McPherson-Hall syndrome|ptosis strabismus ectopic pupils ordo_malformation_syndrome MONDO:0008340 congenital ptosis (disease) biolink:Disease mondo COHD:437093|SCTID:268163008|Orphanet:91411|DOID:0060261|ICD10:Q10.0|MESH:C566737|ICD9:743.61|MedDRA:10015996|OMIM:178300|HP:0007970|NCIT:C27049 Congenital ptosis is characterized by superior eyelid drop present at birth. NCIT:C27049|DOID:0060261|MEDDRA:10015996|SNOMEDCT:268163008|ORPHA:91411|UMLS:C0266573|http://identifiers.org/omim/178300|MESH:C566737 http://purl.obolibrary.org/obo/MONDO_0008340 congenital eyelid ptosis|congenital ptosis|ptosis, hereditary congenital 1|PTOS1|ptosis, hereditary congenital 1; PTOS1 ordo_disease MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 biolink:Disease mondo UMLS:C1842445|OMIM:608174 http://identifiers.org/omim/608174|UMLS:C1842445 http://purl.obolibrary.org/obo/MONDO_0011981 AITD2|autoimmune thyroid disease, susceptibility to, 2|autoimmune thyroid disease, susceptibility to, type 2 predisposition MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 biolink:Disease mondo OMIM:608175 http://identifiers.org/omim/608175 http://purl.obolibrary.org/obo/MONDO_0011982 thyroglobulin|AITD3|autoimmune thyroid disease, susceptibility to, 3|autoimmune thyroid disease, susceptibility to, type 3|autoimmune thyroid disease, susceptibility to, 3; AITD3|TGN predisposition MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 biolink:Disease mondo UMLS:C1842446|OMIM:608173 http://identifiers.org/omim/608173|UMLS:C1842446 http://purl.obolibrary.org/obo/MONDO_0011980 autoimmune thyroid disease, susceptibility to, 1|AITD1|autoimmune thyroid disease, susceptibility to, type 1 predisposition MONDO:0011985 hyper-IgM syndrome type 4 biolink:Disease mondo GARD:0010580|OMIM:608184|ICD10:D80.5|UMLS:C1842413|Orphanet:101091|MESH:C564277|DOID:0060760 A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation. ORPHA:101091|DOID:0060760|http://identifiers.org/omim/608184|UMLS:C1842413|MESH:C564277 http://purl.obolibrary.org/obo/MONDO_0011985 HIGM4|hyper-IgM syndrome type 4|immunodeficiency with hyper-IgM type 4|hyper IgM syndrome 4|immunodeficiency with hyper-IgM, type 4|immunodeficiency with hyper IgM type 4|immunodeficiency with hyper-IgM, type 4; HIGM4|hyper-IgM syndrome 4 gard_rare|ordo_clinical_subtype MONDO:0011986 tropical pancreatitis biolink:Disease mondo OMIM:608189|UMLS:C4510860|SCTID:724540009|MESH:C564276|UMLS:C1842402|Orphanet:103918|ICD10:K86.1 Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. ORPHA:103918|UMLS:C4510860|SNOMEDCT:724540009|http://identifiers.org/omim/608189|UMLS:C1842402|MESH:C564276 http://purl.obolibrary.org/obo/MONDO_0011986 TCP|tropical calcific pancreatitis|tropical calcific chronic pancreatitis ordo_disease MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 biolink:Disease mondo OMIM:608176|UMLS:C1842443 http://identifiers.org/omim/608176|UMLS:C1842443 http://purl.obolibrary.org/obo/MONDO_0011983 AITD4|autoimmune thyroid disease, susceptibility to, 4|autoimmune thyroid disease, susceptibility to, type 4 predisposition MONDO:0011984 synpolydactyly type 2 biolink:Disease mondo Orphanet:295197|OMIM:608180|MESH:C564278|ICD10:Q70.2|UMLS:C1842422|ICD10:Q70.0 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene. http://identifiers.org/omim/608180|ORPHA:295197|MESH:C564278|UMLS:C1842422 http://purl.obolibrary.org/obo/MONDO_0011984 synpolydactyly type 2|SPD2|synpolydactyly 2|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|SD2, Debeer type|non-syndromic synpolydactyly caused by mutation in FBLN1|synpolydactyly 2; SPD2|SD2b|FBLN1 non-syndromic synpolydactyly|synpolydactyly, Debeer type|SPD, Debeer type ordo_clinical_subtype HGNC:18667 PMPCA biolink:OntologyClass mondo http://identifiers.org/hgnc/18667 HGNC:16002 MPLKIP biolink:OntologyClass mondo http://identifiers.org/hgnc/16002 HGNC:18662 RAX biolink:OntologyClass mondo http://identifiers.org/hgnc/18662 HGNC:16001 SUGCT biolink:OntologyClass mondo http://identifiers.org/hgnc/16001 GO:0006826 iron ion transport biolink:OntologyClass mondo The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006826 iron transport|ferric ion transport|iron ion import|ferric iron transport|ferric iron import|ferric ion import|ferric iron uptake|ferrous iron transport|ferrous ion transport GO:0006821 chloride transport biolink:OntologyClass mondo The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006821 GO:0006820 anion transport biolink:OntologyClass mondo The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006820 UBERON:0005233 medial-nasal process ectoderm biolink:AnatomicalEntity mondo An ectoderm that is part of a medial nasal prominence [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005233 HGNC:18758 BBS7 biolink:OntologyClass mondo http://identifiers.org/hgnc/18758 HGNC:3402 EPHX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3402 UBERON:0005239 basal plate metencephalon biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005239 metencephalon basal plate HGNC:3401 EPHX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3401 UBERON:0005236 osseus labyrinth vestibule biolink:AnatomicalEntity mondo A small, oval, bony chamber of the labyrinth. The vestibule contains the utricle and saccule, organs which are part of the balancing apparatus of the ear. http://purl.obolibrary.org/obo/UBERON_0005236 vestibular apparatus|vestibular part of bony labyrinth|vestibulum labyrinthi|inner ear vestibulum|inner ear vestibule|bony labyrinth vestibule|vestibulum auris|osseous labyrinth vestibule|vestibule|vestibule of bony labyrinth HP:0003581 Adult onset biolink:PhenotypicFeature mondo UMLS:C1853562 Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. http://purl.obolibrary.org/obo/HP_0003581 Symptoms begin in adulthood|Onset in early adulthood|Onset in adulthood UBERON:0005234 optic eminence ectoderm biolink:AnatomicalEntity mondo An ectoderm that is part of a optic eminence [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005234 HGNC:18750 RIN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18750 GO:0006836 neurotransmitter transport biolink:OntologyClass mondo The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. http://purl.obolibrary.org/obo/GO_0006836 sodium:neurotransmitter transport GO:0006837 serotonin transport biolink:OntologyClass mondo The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. http://purl.obolibrary.org/obo/GO_0006837 GO:0006835 dicarboxylic acid transport biolink:OntologyClass mondo The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006835 sodium:dicarboxylate transport UBERON:0005222 liver left lobe parenchyma biolink:AnatomicalEntity mondo A parenchyma that is part of a left lobe of liver [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005222 parenchyma of left lobe of liver UBERON:0005221 liver right lobe parenchyma biolink:AnatomicalEntity mondo A parenchyma that is part of a right lobe of liver [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005221 parenchyma of right lobe of liver HGNC:3415 EPO biolink:OntologyClass mondo http://identifiers.org/hgnc/3415 UBERON:0005229 lower leg epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a lower leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005229 UBERON:0005228 upper arm epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a forelimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005228 HGNC:3413 EPM2A biolink:OntologyClass mondo http://identifiers.org/hgnc/3413 UBERON:0005227 manual digit epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005227 fore limb digit epithelium|hand digit epithelium|finger epithelium UBERON:0005226 pedal digit epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a toe [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005226 foot digit epithelium|hind limb digit epithelium|toe epithelium HGNC:18762 SLC36A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18762 UBERON:0005225 upper leg epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a hindlimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005225 HP:0003593 Infantile onset biolink:PhenotypicFeature mondo UMLS:C1848924 Onset of signs or symptoms of disease between 28 days to one year of life. http://purl.obolibrary.org/obo/HP_0003593 Onset in infancy|Onset in first year of life|Infantile onset GO:0006839 mitochondrial transport biolink:OntologyClass mondo Transport of substances into, out of or within a mitochondrion. http://purl.obolibrary.org/obo/GO_0006839 mitochondrial aspartate/glutamate transport|mitochondrial sodium/calcium ion exchange|mitochondrial alpha-ketoglutarate/malate transport HGNC:3416 EPOR biolink:OntologyClass mondo http://identifiers.org/hgnc/3416 FOODON:00002581 aquatic invertebrate biolink:OntologyClass mondo An aquatic invertebrate may live entirely beneath the water, or may live upon its surface or on the plants surrounding it. Some breathe air, others breathe water. To move, they may walk, swim, float, skate, fly or glide on their bellies—or they may not move much at all. http://purl.obolibrary.org/obo/FOODON_00002581 UBERON:0005219 hindbrain subarachnoid space biolink:AnatomicalEntity mondo A subarachnoid space that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005219 subarachnoid space hindbrain|subarachnoid space rhombencephalon UBERON:0005218 diencephalon subarachnoid space biolink:AnatomicalEntity mondo A subarachnoid space that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005218 subarachnoid space diencephalon UBERON:0005217 midbrain subarachnoid space biolink:AnatomicalEntity mondo A subarachnoid space that is part of a midbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005217 subarachnoid space midbrain|subarachnoid space mesencephalon UBERON:0005216 optic eminence surface ectoderm biolink:AnatomicalEntity mondo An external ectoderm that is part of a optic eminence [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005216 GO:0006807 nitrogen compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. http://purl.obolibrary.org/obo/GO_0006807 nitrogen compound metabolism HGNC:7 A2M biolink:OntologyClass mondo http://identifiers.org/hgnc/7 HP:0003560 Muscular dystrophy biolink:PhenotypicFeature mondo UMLS:C0026850|MSH:D009136|SNOMEDCT_US:193225000|SNOMEDCT_US:73297009|UMLS:C1864711 The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. http://purl.obolibrary.org/obo/HP_0003560 Muscle biopsy shows dystrophic changes HGNC:3420 EPS8 biolink:OntologyClass mondo http://identifiers.org/hgnc/3420 GO:0006812 cation transport biolink:OntologyClass mondo The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006812 di-, tri-valent inorganic cation transport GO:0006810 transport biolink:OntologyClass mondo The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. http://purl.obolibrary.org/obo/GO_0006810 solute:solute exchange|small molecule transport|single-organism transport GO:0006811 ion transport biolink:OntologyClass mondo The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006811 HP:0003577 Congenital onset biolink:PhenotypicFeature mondo UMLS:C2752013|UMLS:C1836142 A phenotypic abnormality that is present at birth. http://purl.obolibrary.org/obo/HP_0003577 Prenatal onset|Intrauterine onset|Symptoms present at birth|Onset in utero|Onset at birth UBERON:0005200 thoracic mammary gland biolink:AnatomicalEntity mondo A lactiferous gland that is located in the thoracic region/breast. http://purl.obolibrary.org/obo/UBERON_0005200 lactiferous gland|breast mammary gland|mammary gland|anterior mammary gland HGNC:18746 SLURP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18746 UBERON:0005208 right atrium valve biolink:AnatomicalEntity mondo A valve that is part of a right atrium [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005208 right atrium valves|superior vena cava valve|valve of right atrium HGNC:3437 ERCC5 biolink:OntologyClass mondo http://identifiers.org/hgnc/3437 HGNC:18744 DNAI2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18744 HGNC:3436 ERCC4 biolink:OntologyClass mondo http://identifiers.org/hgnc/3436 UBERON:0005207 tonsil capsule biolink:AnatomicalEntity mondo A capsule that is part of a tonsil [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005207 NCBITaxon:92860 Pleosporales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_92860 HGNC:3435 ERCC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3435 UBERON:0005206 choroid plexus stroma biolink:AnatomicalEntity mondo Stromal matrix surrounding blood vessels within the choroid plexus. http://purl.obolibrary.org/obo/UBERON_0005206 choroid plexus stromal matrix HGNC:3434 ERCC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3434 UBERON:0005205 lamina propria of vagina biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005205 vagina stroma HGNC:3433 ERCC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3433 UBERON:0005204 larynx submucosa gland biolink:AnatomicalEntity mondo A gland that is part of a larynx submucosa [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005204 laryngeal submucosa gland HGNC:3432 ERBB4 biolink:OntologyClass mondo http://identifiers.org/hgnc/3432 NCBITaxon:2704949 Trypanosomatida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2704949 HGNC:3431 ERBB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3431 GO:0006816 calcium ion transport biolink:OntologyClass mondo The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006816 sodium:calcium exchange|mitochondrial sodium/calcium ion exchange|calcium transport HGNC:3430 ERBB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3430 HGNC:3439 ERCC8 biolink:OntologyClass mondo http://identifiers.org/hgnc/3439 HGNC:3438 ERCC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/3438 NCBITaxon:80840 Burkholderiales organism taxon mondo GC_ID:11|PMID:16403855 http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderia/Oxalobacter/Ralstonia group NCBITaxon:2038102 Balantioides organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2038102 UBERON:0005277 dorsal skin of toe biolink:AnatomicalEntity mondo A dorsal skin of digit that is part of a pedal digit. http://purl.obolibrary.org/obo/UBERON_0005277 skin of dorsal part of toe|subdivision of skin of dorsal part of toe|dorsal toe skin UBERON:0005276 dorsal skin of finger biolink:AnatomicalEntity mondo A dorsal skin of digit that is part of a manual digit. http://purl.obolibrary.org/obo/UBERON_0005276 dorsal finger skin|skin of dorsal part of finger|subdivision of skin of dorsal part of finger UBERON:0005275 dorsal skin of digit biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005275 dorsal digit skin|skin of dorsal part of digit HGNC:18713 GLCCI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18713 NCBITaxon:5036 Histoplasma organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5036 HGNC:18712 LGI4 biolink:OntologyClass mondo http://identifiers.org/hgnc/18712 HGNC:3444 ERF biolink:OntologyClass mondo http://identifiers.org/hgnc/3444 MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy biolink:Disease mondo UMLS:CN074265|OMIM:181430|ICD10:G71.0|GARD:0010313|Orphanet:437572|SCTID:129620000 http://identifiers.org/omim/181430|SNOMEDCT:129620000|UMLS:CN074265|ORPHA:437572 http://purl.obolibrary.org/obo/MONDO_0008409 scapuloperoneal muscular dystrophy|scapuloperoneal syndrome, myopathic type|SPMM|scapuloperoneal myopathy, MYH7-related|MYH7-related late-onset scapuloperoneal syndrome|MYH7-related late-onset SPMD|scapuloperoneal myopathy, MYH7-related; SPMM|SPMD|MYH7-related scapuloperoneal myopathy ordo_disease MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant biolink:Disease mondo SCTID:230248006|ICD9:335.19|OMIM:181405|Orphanet:431255|GARD:0010314|ICD10:G12.1|EFO:1001992 http://identifiers.org/omim/181405|ORPHA:431255|SNOMEDCT:230248006 http://purl.obolibrary.org/obo/MONDO_0008408 amyotrophy, neurogenic scapuloperoneal, New England type|scapuloperoneal spinal muscular atrophy; SPSMA|scapuloperoneal neuronopathy|neurogenic scapuloperoneal amyotrophy, New England type|scapuloperoneal spinal muscular atrophy|SPSMA ordo_disease MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type biolink:Disease mondo MESH:C566695|UMLS:C1867005|Orphanet:85146|ICD10:G12.1|GARD:0010312|OMIM:181400 http://identifiers.org/omim/181400|ORPHA:85146|MESH:C566695|UMLS:C1867005 http://purl.obolibrary.org/obo/MONDO_0008407 scapuloperoneal syndrome, neurogenic type, of Kaeser|Kaeser syndrome|stark-Kaeser syndrome|scapuloperoneal syndrome, neurogenic, Kaeser type; SCPNK|scapuloperoneal syndrome, neurogenic, Kaeser type|SCPNK gard_rare|ordo_disease NCBITaxon:5039 Blastomyces dermatitidis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5039 Ajellomyces dermatitidis|Blastomycoides dermatitidis MONDO:0008406 autosomal recessive Emery-Dreifuss muscular dystrophy biolink:Disease mondo ICD10:G71.0|Orphanet:98855 Autosomal recessive form of Emery-Dreifuss muscular dystrophy. UMLS:C1450051|ORPHA:98855 http://purl.obolibrary.org/obo/MONDO_0008406 EDMD3|Emery-Dreifuss muscular dystrophy, autosomal recessive ordo_etiological_subtype NCBITaxon:5037 Histoplasma capsulatum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5037 Cryptococcus capsulatus|Emmonsiella capsulata|Ajellomyces capsulatus MONDO:0008405 scapula, contour of vertebral border of biolink:Disease mondo OMIM:181300 http://identifiers.org/omim/181300 http://purl.obolibrary.org/obo/MONDO_0008405 scapula, contour of vertebral border of MONDO:0008404 scalp-ear-nipple syndrome biolink:Disease mondo OMIM:181270|MESH:C536623|Orphanet:2036|GARD:0000159|SCTID:721888002|ICD10:Q87.8 Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. ORPHA:2036|SNOMEDCT:721888002|UMLS:C1867020|MESH:C536623|http://identifiers.org/omim/181270 http://purl.obolibrary.org/obo/MONDO_0008404 Sen syndrome|scalp-ear-nipple syndrome|Finlay-Marks syndrome|SENS|hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples|scalp-EAR-nipple syndrome; SENS|scalp ear nipple syndrome ordo_malformation_syndrome|gard_rare MONDO:0008403 scalp defects-postaxial polydactyly syndrome biolink:Disease mondo OMIM:181250|UMLS:C1867021|ICD10:Q87.2|GARD:0000241|MESH:C536622|Orphanet:1003 Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A. ORPHA:1003|UMLS:C1867021|MESH:C536622|http://identifiers.org/omim/181250 http://purl.obolibrary.org/obo/MONDO_0008403 scalp defects postaxial polydactyly|scalp defects and postaxial polydactyly|congenital scalp defects associated with postaxial polydactyly ordo_malformation_syndrome MONDO:0008402 cleft palate-large ears-small head syndrome biolink:Disease mondo SCTID:763130006|GARD:0000162|UMLS:C1867023|OMIM:181180|ICD10:Q87.8|Orphanet:2013|MESH:C536621 Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. ORPHA:2013|SNOMEDCT:763130006|UMLS:C1867023|http://identifiers.org/omim/181180|MESH:C536621 http://purl.obolibrary.org/obo/MONDO_0008402 SAY syndrome|cleft palate, microcephaly, large ears, and short stature|Say-Barber-Hobbs syndrome|Say Barber Hobbs syndrome|cleft palate large ears small head gard_rare|ordo_malformation_syndrome MONDO:0008401 pleomorphic adenoma biolink:Disease mondo ICD10:D11.0|DOID:452|OMIM:181030|SCTID:447888006|MESH:D008949|Orphanet:454821|NCIT:C8602|EFO:1000384|ICDO:8940/0 A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma). DOID:452|ORPHA:454821|http://identifiers.org/omim/181030|NCIT:C8602|SNOMEDCT:447888006|MESH:D008949 http://purl.obolibrary.org/obo/MONDO_0008401 tumor, mixed, benign|Sgpa|mixed tumor of the salivary gland|salivary gland adenoma, pleomorphic|pleomorphic adenoma|pleomorphic salivary gland adenoma|Psa|pleomorphic adenoma (morphologic abnormality) ordo_histopathological_subtype MONDO:0008400 salivary duct calculi biolink:Disease mondo OMIM:181010|MESH:D012465 Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts. http://identifiers.org/omim/181010|MESH:D012465 http://purl.obolibrary.org/obo/MONDO_0008400 salivary duct calculi|submandibular duct calculi|parotid duct calculi NCBITaxon:5042 Eurotiales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5042 green and blue molds|Elaphomycetales UBERON:0005269 renal cortex vein biolink:AnatomicalEntity mondo Artery that receives blood from the renal cortex[MP, modified] http://purl.obolibrary.org/obo/UBERON_0005269 kidney cortex vein|renal cortex venous system UBERON:0005268 renal cortex artery biolink:AnatomicalEntity mondo An artery that supplies the renal cortex. http://purl.obolibrary.org/obo/UBERON_0005268 kidney cortex artery|renal cortex arterial system|renal cortex artery UBERON:0005255 pedal digit mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing toe [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005255 toe mesenchyme|pedal digital ray mesenchyme|foot digit mesenchyme|finger ray mesenchyme|hind limb digit mesenchyme UBERON:0005254 upper leg mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing hindlimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005254 UBERON:0005253 head mesenchyme biolink:AnatomicalEntity mondo Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. http://purl.obolibrary.org/obo/UBERON_0005253 desmocranium|cranial mesenchyme|cephalic mesenchyme UBERON:0005251 yolk sac cavity biolink:AnatomicalEntity mondo An anatomical cavity that is part of a yolk sac [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005251 yolk sac space|cavity of yolk sac|yolk sac lumen UBERON:0005250 stomatodeum gland biolink:AnatomicalEntity mondo A gland that is part of a stomodeum. http://purl.obolibrary.org/obo/UBERON_0005250 stomatodaeum gland NCBITaxon:5014 Dothideales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5014 HGNC:3467 ESR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3467 UBERON:0005259 lower leg mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing lower leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005259 UBERON:0005258 upper arm mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing forelimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005258 UBERON:0005257 manual digit mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005257 finger mesenchyme|manual digital ray mesenchyme|anterior limb digital ray mesenchyme|fore limb digit mesenchyme|hand digit mesenchyme|finger ray mesenchyme UBERON:0005256 trunk mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing trunk. http://purl.obolibrary.org/obo/UBERON_0005256 trunk and cervical mesenchyme CHEBI:68452 azole biolink:ChemicalSubstance mondo Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen. http://purl.obolibrary.org/obo/CHEBI_68452 azoles HGNC:18708 GRIP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18708 HGNC:3473 ESRRB biolink:OntologyClass mondo http://identifiers.org/hgnc/3473 UBERON:0005243 interventricular septum endocardium biolink:AnatomicalEntity mondo An endocardium that is part of a interventricular septum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005243 interventricular septum endocardial tissue|endocardium of interventricular septum HGNC:18704 NAA10 biolink:OntologyClass mondo http://identifiers.org/hgnc/18704 NCBITaxon:41283 Chrysosporium parvum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_41283 UBERON:0005249 metanephric renal pelvis biolink:AnatomicalEntity mondo A renal pelvis that is part of a metanephros. http://purl.obolibrary.org/obo/UBERON_0005249 metanephros pelvis UBERON:0005248 bulbus cordis myocardium biolink:AnatomicalEntity mondo A myocardium that is part of a bulbus cordis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005248 bulbus cordis cardiac muscle NCBITaxon:53258 Variola minor virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_53258 Variola virus subsp. minor HP:0003508 Proportionate short stature biolink:PhenotypicFeature mondo UMLS:C0878660 A kind of short stature in which different regions of the body are shortened to a comparable extent. http://purl.obolibrary.org/obo/HP_0003508 Short stature, proportionate|Proportionate small stature UBERON:0007806 connecting stalk biolink:AnatomicalEntity mondo A bridge of mesoderm connecting the caudal end of the young embryo with the trophoblastic tissues; the precursor of the umbilical cord. http://purl.obolibrary.org/obo/UBERON_0007806 UBERON:0007807 connecting stalk vasculature biolink:AnatomicalEntity mondo A vasculature that is part of a connecting stalk. http://purl.obolibrary.org/obo/UBERON_0007807 connecting stalk blood vessel|connecting stalk blood vessels|vasculature of connecting stalk UBERON:0007808 adipose tissue of abdominal region biolink:AnatomicalEntity mondo Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots. http://purl.obolibrary.org/obo/UBERON_0007808 abdominal adipose tissue|intra-abdominal fat|abdominal fat NCBITaxon:138951 Enterovirus D organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_138951 Enterovirus EV-D|Human enterovirus D GO:0016229 steroid dehydrogenase activity biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which one substrate is a sterol derivative. http://purl.obolibrary.org/obo/GO_0016229 UBERON:0007811 craniocervical region biolink:AnatomicalEntity mondo The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. http://purl.obolibrary.org/obo/UBERON_0007811 cephalic area|head or neck|cephalic part of animal|head and neck|cephalic region UBERON:0007812 post-anal tail biolink:AnatomicalEntity mondo A tail that extends from the posterior tip of the organism to the anus, contains muscle and skeleton. http://purl.obolibrary.org/obo/UBERON_0007812 post-vent region|postanal tail|muscular postanal tail|post-anal fin tail NCBITaxon:138948 Enterovirus A organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_138948 Human enterovirus A|Human coxsackievirus A|Coxsackievirus A|Enterovirus EV-A NCBITaxon:138949 Enterovirus B organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_138949 Human enterovirus B|Enterovirus EV-B GO:0004252 serine-type endopeptidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). http://purl.obolibrary.org/obo/GO_0004252 serine elastase activity|blood coagulation factor activity HP:0003510 Severe short stature biolink:PhenotypicFeature mondo UMLS:C0013336|SNOMEDCT_US:237837007|SNOMEDCT_US:237836003|SNOMEDCT_US:422065006|MSH:D004392 A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. http://purl.obolibrary.org/obo/HP_0003510 Proportionate dwarfism|Severe short stature|Short stature, severe|Dwarfism|Short stature, extreme NCBITaxon:138950 Enterovirus C organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus EV-C|Poliovirus|Human enterovirus C GO:0006885 regulation of pH biolink:OntologyClass mondo Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. http://purl.obolibrary.org/obo/GO_0006885 hydrogen ion homeostasis GO:0006886 intracellular protein transport biolink:OntologyClass mondo The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. http://purl.obolibrary.org/obo/GO_0006886 copper-induced intracellular protein transport CHEBI:32486 L-phenylalaninate biolink:ChemicalSubstance mondo An optically active form of phenylalaninate having L-configuration. http://purl.obolibrary.org/obo/CHEBI_32486 L-phenylalanine anion|(2S)-2-amino-3-phenylpropanoate|L-phenylalaninate GO:0016209 antioxidant activity biolink:OntologyClass mondo Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage. http://purl.obolibrary.org/obo/GO_0016209 CHEBI:32487 L-phenylalaninium biolink:ChemicalSubstance mondo An optically active form of phenylalaninium having L-configuration. http://purl.obolibrary.org/obo/CHEBI_32487 L-phenylalaninium|L-phenylalanine cation|(1S)-1-carboxy-2-phenylethanaminium GO:0016202 regulation of striated muscle tissue development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of striated muscle development. http://purl.obolibrary.org/obo/GO_0016202 FOODON:00002505 dairy cattle biolink:OntologyClass mondo Dairy cattle are a type of cattle bred for the ability to produce large quantities of milk, from which dairy products are made. This class covers both male and female members of a dairy breed. http://purl.obolibrary.org/obo/FOODON_00002505 FOODON:00002507 taurine cattle biolink:OntologyClass mondo Taurine cattle (Bos taurus taurus), also called European cattle, are a subspecies of domesticated cattle originating in the Near East. Both taurine cattle and indicine cattle (zebus) are descended from the aurochs. Taurine cattle were originally considered a distinct species, but are now typically grouped with zebus and aurochs into one species, Bos taurus. Most modern breeds of cattle are taurine cattle. http://purl.obolibrary.org/obo/FOODON_00002507 NCBITaxon:5052 Aspergillus organism taxon mondo PMID:20141373|PMID:28082760|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5052 Aspergillus|Petromyces|Polypaecilum|Phialosimplex GO:0006898 receptor-mediated endocytosis biolink:OntologyClass mondo An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. http://purl.obolibrary.org/obo/GO_0006898 receptor mediated endocytosis GO:0006897 endocytosis biolink:OntologyClass mondo A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. http://purl.obolibrary.org/obo/GO_0006897 endocytic import into cell|vesicle endocytosis|plasma membrane invagination|nonselective vesicle endocytosis CHEBI:32494 D-phenylalaninate biolink:ChemicalSubstance mondo The D-enantiomer of phenylalaninate. http://purl.obolibrary.org/obo/CHEBI_32494 D-phenylalaninate|(2R)-2-amino-3-phenylpropanoate|D-phenylalanine anion NCBITaxon:5061 Aspergillus niger organism taxon mondo PMID:21892240|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5061 Aspergillus lacticoffeatus CHEBI:32495 D-phenylalaninium biolink:ChemicalSubstance mondo An optically active form of phenylalaninium having D-configuration. http://purl.obolibrary.org/obo/CHEBI_32495 (1R)-1-carboxy-2-phenylethanaminium|D-phenylalaninium|D-phenylalanine cation GO:0090154 positive regulation of sphingolipid biosynthetic process biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/GO_0090154 GO:0090155 negative regulation of sphingolipid biosynthetic process biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/GO_0090155 negative regulation of sphingolipid biosynthesis involved in cellular sphingolipid homeostasis GO:0090153 regulation of sphingolipid biosynthetic process biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/GO_0090153 GO:0006869 lipid transport biolink:OntologyClass mondo The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0006869 GO:0006865 amino acid transport biolink:OntologyClass mondo The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006865 HP:0003549 Abnormality of connective tissue biolink:PhenotypicFeature mondo UMLS:C4025596 Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). http://purl.obolibrary.org/obo/HP_0003549 GO:0006860 extracellular amino acid transport biolink:OntologyClass mondo The directed extracellular movement of amino acids. http://purl.obolibrary.org/obo/GO_0006860 PATO:0001374 ploidy biolink:OntologyClass mondo A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. http://purl.obolibrary.org/obo/PATO_0001374 PATO:0001375 haploid biolink:OntologyClass mondo A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes. http://purl.obolibrary.org/obo/PATO_0001375 GO:0006878 cellular copper ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. http://purl.obolibrary.org/obo/GO_0006878 copper homeostasis GO:0006879 cellular iron ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. http://purl.obolibrary.org/obo/GO_0006879 iron homeostasis GO:0006874 cellular calcium ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. http://purl.obolibrary.org/obo/GO_0006874 regulation of calcium ion concentration GO:0006875 cellular metal ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. http://purl.obolibrary.org/obo/GO_0006875 cellular heavy metal ion homeostasis GO:0006873 cellular ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of ions at the level of a cell. http://purl.obolibrary.org/obo/GO_0006873 UBERON:0007842 membrane bone biolink:AnatomicalEntity mondo Bone element that arises as a result of intramembranous ossification. http://purl.obolibrary.org/obo/UBERON_0007842 membrane bones UBERON:0007844 cartilage element biolink:AnatomicalEntity mondo Skeletal element that is composed of cartilage tissue and may be permanent or transient. http://purl.obolibrary.org/obo/UBERON_0007844 chondrogenic element|cartilage|cartilage organ|cartilaginous element HP:0003552 Muscle stiffness biolink:PhenotypicFeature mondo UMLS:C0221170|SNOMEDCT_US:16046003 A condition in which muscles cannot be moved quickly without accompanying pain or spasm. http://purl.obolibrary.org/obo/HP_0003552 UBERON:0007845 regular connective tissue biolink:AnatomicalEntity mondo Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. http://purl.obolibrary.org/obo/UBERON_0007845 UBERON:0007846 dense regular connective tissue biolink:AnatomicalEntity mondo Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). http://purl.obolibrary.org/obo/UBERON_0007846 dense regular collagenous tissue|dense regular collagenous connective tissue|typus regularis (textus connectivus collagenosus compactus)|regular dense connective tissue|dense fibrous connective tissue GO:0090181 regulation of cholesterol metabolic process biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/GO_0090181 UBERON:0007827 external nose biolink:AnatomicalEntity mondo External part of the nose containing the external nares. http://purl.obolibrary.org/obo/UBERON_0007827 nose UBERON:0007828 girdle bone/zone biolink:AnatomicalEntity mondo A bone that is part of a appendage girdle region. http://purl.obolibrary.org/obo/UBERON_0007828 girdle bone UBERON:0007829 pectoral girdle bone biolink:AnatomicalEntity mondo A bone that is part of a pectoral girdle region. http://purl.obolibrary.org/obo/UBERON_0007829 bone of pectoral girdle UBERON:0007830 pelvic girdle bone/zone biolink:AnatomicalEntity mondo A bone element or fused bone that is part of pelvic girdle. http://purl.obolibrary.org/obo/UBERON_0007830 bone of pelvic girdle|pelvic girdle bone PATO:0001394 diploid biolink:OntologyClass mondo A ploidy quality inhering in a bearer by virtue of the bearer's having two copies (homologs) of each chromosome, usually one from the mother and one from the father. http://purl.obolibrary.org/obo/PATO_0001394 HP:0003521 Disproportionate short-trunk short stature biolink:PhenotypicFeature mondo UMLS:C1846435 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. http://purl.obolibrary.org/obo/HP_0003521 Disproportionate short-trunked dwarfism|Short-trunked dwarfism|Disproportionate short-trunked short stature UBERON:0007831 pectoral girdle skeleton biolink:AnatomicalEntity mondo A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. http://purl.obolibrary.org/obo/UBERON_0007831 skeletal parts of pectoral girdle|pectoral girdle|skeleton of pectoral girdle|scapular girdle|cingulum pectorale NCBITaxon:5094 Talaromyces organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5094 UBERON:0007832 pelvic girdle skeleton biolink:AnatomicalEntity mondo Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. http://purl.obolibrary.org/obo/UBERON_0007832 pelvic girdle skeleton|skeletal parts of pelvic girdle|pelvic girdle|skeleton of pelvic girdle PATO:0001393 euploid biolink:OntologyClass mondo A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. http://purl.obolibrary.org/obo/PATO_0001393 PATO:0001396 cellular quality biolink:OntologyClass mondo A monadic quality of continuant that exists at the cellular level of organisation. http://purl.obolibrary.org/obo/PATO_0001396 PATO:0001397 cellular potency biolink:OntologyClass mondo A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. http://purl.obolibrary.org/obo/PATO_0001397 GO:0006858 extracellular transport biolink:OntologyClass mondo The transport of substances that occurs outside cells. http://purl.obolibrary.org/obo/GO_0006858 GO:0006859 extracellular carbohydrate transport biolink:OntologyClass mondo The directed extracellular movement of carbohydrates. http://purl.obolibrary.org/obo/GO_0006859 GO:0006855 drug transmembrane transport biolink:OntologyClass mondo The process in which a drug is transported across a membrane. http://purl.obolibrary.org/obo/GO_0006855 multidrug transport|drug membrane transport UBERON:0007823 appendage girdle region biolink:AnatomicalEntity mondo An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/UBERON_0007823 girdle region|limb girdle|limb girdle region|girdle|fin girdle region|fin girdle UBERON:0007826 peritoneal mesentery biolink:AnatomicalEntity mondo Mesentery that is located in the peritoneum. http://purl.obolibrary.org/obo/UBERON_0007826 UBERON:0001309 internal iliac artery biolink:AnatomicalEntity mondo The internal iliac artery (formerly known as the hypogastric artery) is the main artery of the pelvis. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001309 hypogastric artery|arteria iliaca interna UBERON:0001308 external iliac artery biolink:AnatomicalEntity mondo The external iliac artery is a large artery in the pelvic region that carries blood to the lower limb. The external iliac artery is a paired artery, meaning there is one on each side of the body: a right external iliac artery and left external iliac artery. The external iliac artery is accompanied by the external iliac vein, which is located posterior to the artery. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001308 arteria iliaca externa HP:0030050 Narcolepsy biolink:PhenotypicFeature mondo MSH:D009290|UMLS:C0027404|SNOMEDCT_US:60380001 An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. http://purl.obolibrary.org/obo/HP_0030050 UBERON:0001305 ovarian follicle biolink:AnatomicalEntity mondo A spherical aggregation of cells in the ovary that contains a single oocyte[WP,modified]. http://purl.obolibrary.org/obo/UBERON_0001305 egg follicle|folliculi ovarici primarii|follicle of ovary|ovary follicle|follicle of ovary viewed macroscopically|folliculi ovarici vesiculosi UBERON:0003968 peripheral lymph node biolink:AnatomicalEntity mondo The lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes http://purl.obolibrary.org/obo/UBERON_0003968 UBERON:0001304 germinal epithelium of ovary biolink:AnatomicalEntity mondo layer of simple cuboidal cells covering surface of ovary[WP]. http://purl.obolibrary.org/obo/UBERON_0001304 ovary germinal epithelium|surface epithelium of ovary|ovarian surface epithelium|germinal epithelium (female)|epithelium superficiale (ovarium)|ovary surface epithelium|female coelomic epithelium UBERON:0001307 capsule of ovary biolink:AnatomicalEntity mondo A capsule that surrounds a female gonad. http://purl.obolibrary.org/obo/UBERON_0001307 ovary capsule|ovarian capsule UBERON:0003967 cutaneous elastic tissue biolink:AnatomicalEntity mondo The slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity http://purl.obolibrary.org/obo/UBERON_0003967 dermal elastic fiber|cutaneous elastic fiber NCBITaxon:33090 Viridiplantae organism taxon mondo GC_ID:1|PMID:16248873|PMID:30257078 http://purl.obolibrary.org/obo/NCBITaxon_33090 Chlorobionta|chlorophyte/embryophyte group|chlorophyte/embryophyte group|Chloroplastida|green plants|Chlorophyta/Embryophyta group|green plants|Chlorophyta/Embryophyta group UBERON:0003975 internal female genitalia biolink:AnatomicalEntity mondo The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. http://purl.obolibrary.org/obo/UBERON_0003975 female internal genitalia|internal female genital organ|organa genitalia feminina interna|internal genitalia of female reproductive system UBERON:0001312 superior vesical artery biolink:AnatomicalEntity mondo An artery that supplies blood to the upper urinary bladder. http://purl.obolibrary.org/obo/UBERON_0001312 arteria vesicali superior|arteriae vesicales superiores|arteria vesicalis superior UBERON:0001311 inferior vesical artery biolink:AnatomicalEntity mondo An artery that supplies blood to the lower urinary bladder. http://purl.obolibrary.org/obo/UBERON_0001311 arteria vesicalis inferior|arteria vesicali inferior|arteria vesicalis inferior UBERON:0001310 umbilical artery biolink:AnatomicalEntity mondo The umbilical artery is a paired artery (with one for each half of the body) that is found in the abdominal and pelvic regions. In the fetus, it extends into the umbilical cord. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001310 a. umbilicalis SO:0000159 deletion biolink:SequenceFeature mondo The point at which one or more contiguous nucleotides were excised. http://purl.obolibrary.org/obo/SO_0000159 deleted_sequence|nucleotide deletion|nucleotide_deletion NCBITaxon:57077 Dicrocoelium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_57077 UBERON:0003959 rete testis biolink:AnatomicalEntity mondo An anastomosing network of delicate tubules located in the hilum of the testicle (mediastinum testis) that carries sperm from the seminiferous tubules to the vasa efferentia[WP]. http://purl.obolibrary.org/obo/UBERON_0003959 Haller's rete UBERON:0003957 Bruch's membrane biolink:AnatomicalEntity mondo A transparent, nearly structureless innermost layer of the choroid in contact with the pigmented layer of the retina. http://purl.obolibrary.org/obo/UBERON_0003957 basal lamina of choroid|Bruch's basal membrane|lamina choroideae basalis|lamina basalis (choroid)|vitreous lamina|lamina basilis|Bruch membrane NCBITaxon:33084 Entamoebidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33084 Entamoebida UBERON:0001301 epididymis biolink:AnatomicalEntity mondo the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens http://purl.obolibrary.org/obo/UBERON_0001301 Nebenhoden@de UBERON:0001300 scrotum biolink:AnatomicalEntity mondo the external sac of skin that encloses the testes. It is an extension of the abdomen, and in placentals is located between the penis and anus. http://purl.obolibrary.org/obo/UBERON_0001300 UBERON:0001303 left uterine tube biolink:AnatomicalEntity mondo A fallopian tube that is part of a left side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001303 left fallopian tube|left oviduct UBERON:0001302 right uterine tube biolink:AnatomicalEntity mondo A fallopian tube that is part of a right side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001302 right oviduct|right fallopian tube UBERON:0003963 otic ganglion biolink:AnatomicalEntity mondo The ganglion that supplies nerve fibers to the parotid gland http://purl.obolibrary.org/obo/UBERON_0003963 otic parasympathetic ganglion|Arnold's ganglion|ganglion oticum UBERON:0003947 brain ventricle/choroid plexus biolink:AnatomicalEntity mondo The brain ventricles or their associated choroid plexuses http://purl.obolibrary.org/obo/UBERON_0003947 SO:0000185 primary_transcript biolink:SequenceFeature mondo A transcript that in its initial state requires modification to be functional. http://purl.obolibrary.org/obo/SO_0000185 precursor RNA|INSDC_feature:precursor_RNA|INSDC_feature:prim_transcript|primary transcript CHEBI:22160 acetamides biolink:ChemicalSubstance mondo Compounds with the general formula RNHC(=O)CH3. http://purl.obolibrary.org/obo/CHEBI_22160 UBERON:0003953 posterior stroma of cornea biolink:AnatomicalEntity mondo The posterior segment of the lamellated connective tissue layer of the cornea http://purl.obolibrary.org/obo/UBERON_0003953 cornea posterior stroma|posterior stroma UBERON:0003952 anterior stroma of cornea biolink:AnatomicalEntity mondo The anterior segment of the lamellated connective tissue layer of the cornea http://purl.obolibrary.org/obo/UBERON_0003952 anterior stroma|cornea anterior stroma UBERON:0003937 reproductive gland biolink:AnatomicalEntity mondo Any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction. http://purl.obolibrary.org/obo/UBERON_0003937 sex gland|gland of reproductive system|reproductive system gland|gland of genitalia|genitalia gland|reproductive gland HP:0030082 Abnormal drinking behavior biolink:PhenotypicFeature mondo UMLS:C4022657 Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior|Abnormal drinking behaviour UBERON:0003933 cranial cartilage biolink:AnatomicalEntity mondo A cartilage element that is part of the cranial skeleton. http://purl.obolibrary.org/obo/UBERON_0003933 cranium cartilage|cartilage of cranium|cranial cartilages UBERON:0015917 superficial lymph node biolink:AnatomicalEntity mondo A lymph node that is located close to the surface. http://purl.obolibrary.org/obo/UBERON_0015917 UBERON:0015918 deep lymph node biolink:AnatomicalEntity mondo A lymph node that is located deeper within the organism, further from the surface. http://purl.obolibrary.org/obo/UBERON_0015918 UBERON:0003942 somatic sensory system biolink:AnatomicalEntity mondo The sensory system for the sense of touch and pain. http://purl.obolibrary.org/obo/UBERON_0003942 somatic sensory system|system for detection of somatic senses|somatosensory system MONDO:0004713 lower gum cancer biolink:Disease mondo ICD9:143.1|UMLS:C0432581|ICD10:C03.1|DOID:9125|SCTID:363384006 A cancer involving a gingiva of lower jaw. UMLS:C0432581|SNOMEDCT:363384006|DOID:9125 http://purl.obolibrary.org/obo/MONDO_0004713 malignant gingiva of lower jaw neoplasm|malignant tumour of lower gum|malignant neoplasm of gingiva of lower jaw|malignant tumor of lower gingiva|gingiva of lower jaw cancer|cancer of gingiva of lower jaw MONDO:0004712 herpes simplex dermatitis biolink:Disease mondo ICD9:054.0|NCIT:C35620|UMLS:C0854331|ICD9:054.41|ICD10:B00.0|DOID:9123|SCTID:186535001|MESH:D007617 Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection. SNOMEDCT:186535001|UMLS:C0854331|MESH:D007617|DOID:9123|NCIT:C35620 http://purl.obolibrary.org/obo/MONDO_0004712 Simplexvirus caused dermatitis|eczema herpeticum|herpes simplex virus eyelid dermatitis|Simplexvirus dermatitis|Herpes simplex dermatitis|Herpes simplex virus dermatitis|herpes simplex dermatitis|Herpes simplex dermatitis of eyelid|eczema herpeticum (disorder) [ambiguous]|Herpes simplex eyelid dermatitis NCBITaxon:84642 Aeromonadaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_84642 Aeromonas group MONDO:0004715 liver carcinoma in situ biolink:Disease mondo ICD10:D01.5|UMLS:C0345908|SCTID:92644006|DOID:9132|ICD9:230.8 A carcinoma in situ involving a liver. DOID:9132|SNOMEDCT:92644006|UMLS:C0345908 http://purl.obolibrary.org/obo/MONDO_0004715 carcinoma in situ of liver and biliary system|stage 0 liver carcinoma|liver in situ carcinoma|carcinoma in situ of liver|carcinoma in situ of liver, gallbladder and bile ducts MONDO:0004714 atrophic muscular disease biolink:Disease mondo NCIT:C84574|DOID:913 A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves. DOID:913|NCIT:C84574 http://purl.obolibrary.org/obo/MONDO_0004714 atrophic muscular disorder MONDO:0004711 obsolete amyloidosis (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004711 MONDO:0004710 uterus carcinoma in situ biolink:Disease mondo DOID:9108|SCTID:92788005|ICD9:233.2|UMLS:C0686237|COHD:192581 A carcinoma in situ involving a uterus. DOID:9108|SNOMEDCT:92788005|UMLS:C0686237 http://purl.obolibrary.org/obo/MONDO_0004710 uterus in situ carcinoma|carcinoma in situ of uterus|stage 0 uterus carcinoma HP:0030012 Abnormal female reproductive system physiology biolink:PhenotypicFeature mondo UMLS:C4020714|UMLS:C4022678 http://purl.obolibrary.org/obo/HP_0030012 Abnormal female reproductive system physiology|Abnormal female genital system physiology HP:0030014 Female sexual dysfunction biolink:PhenotypicFeature mondo UMLS:C1112442 A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity http://purl.obolibrary.org/obo/HP_0030014 MONDO:0016702 oligoastrocytoma biolink:Disease mondo ICD10:C71.9|ONCOTREE:OAST|GARD:0009769|UMLS:C0280793|Orphanet:251656|MedDRA:10027744|SCTID:716647001|NCIT:C4050|DOID:7912|EFO:0000630 A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO) SNOMEDCT:716647001|UMLS:C0280793|NCIT:C4050|ORPHA:251656|MEDDRA:10027744|DOID:7912 http://purl.obolibrary.org/obo/MONDO_0016702 mixed oligoastrocytoma|mixed astrocytoma-oligodendroglioma|WHO grade II mixed glioma|mixed oligo-astrocytoma|mixed astrocytic-oligodendroglial tumor|MOA|mixed oligodendroglioma-astrocytoma|glioma, mixed, benign|mixed astrocytic-oligodendroglial neoplasm|oligoastrocytoma ordo_disease|gard_rare MONDO:0016703 anaplastic oligoastrocytoma biolink:Disease mondo ONCOTREE:AOAST|NCIT:C6959|UMLS:C0431108|GARD:0010637|ICD10:C71.9|Orphanet:251663|EFO:0002500 An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity. UMLS:C0431108|NCIT:C6959|ORPHA:251663 http://purl.obolibrary.org/obo/MONDO_0016703 AOAST|anaplastic mixed glioma|aMOA|WHO grade III mixed glioma|anaplastic oligoastrocytoma gard_rare|ordo_disease MONDO:0016704 glial tumor of neuroepithelial tissue with unknown origin biolink:Disease mondo UMLS:CN201948|Orphanet:251668 UMLS:CN201948|ORPHA:251668 http://purl.obolibrary.org/obo/MONDO_0016704 ordo_group_of_disorders UBERON:0001350 coccyx biolink:AnatomicalEntity mondo A collection of caudal vertebrae in the coccygeal region that are fused and part of the bony pelvis. http://purl.obolibrary.org/obo/UBERON_0001350 coccygeal skeleton|coccyx [coccygeal vertebrae I-IV]|coccygeal vertebrae I-IV|fused caudal vertebral column|os coccygis|tailbone|fused caudal vertebrae|coccyx [vertebrae coccygeae I-IV]|os coccygis MONDO:0016705 angiocentric glioma biolink:Disease mondo Orphanet:251671|ONCOTREE:ANGL|ICD10:C71.9|NCIT:C92552|ICDO:9431/1|UMLS:C2363903 Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis. NCIT:C92552|ORPHA:251671|UMLS:C2363903 http://purl.obolibrary.org/obo/MONDO_0016705 angiocentric glioma (WHO grade I)|Monomorphus angiocentric glioma|angiocentric neuroepithelial tumor|ANGL ordo_disease HP:0030016 Dyspareunia biolink:PhenotypicFeature mondo UMLS:C1384606|SNOMEDCT_US:71315007|MSH:D004414 Recurrent or persistent genital pain associated with sexual intercourse. http://purl.obolibrary.org/obo/HP_0030016 MONDO:0016700 anaplastic ependymoma biolink:Disease mondo ICD10:C71.9|MedDRA:10014968|Orphanet:251646|UMLS:C0280788|ICDO:9392/3|NCIT:C4049|GARD:0010634|ONCOTREE:APE Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking. UMLS:C0280788|ORPHA:251646|NCIT:C4049|MEDDRA:10014968 http://purl.obolibrary.org/obo/MONDO_0016700 undifferentiated ependymoma|anaplastic ependymoma|high-grade ependymoma|malignant ependymoma|undifferentiated ependymal neoplasm|WHO grade III ependymal tumor|anaplastic ependymal neoplasm|ependymoma, anaplastic, malignant|anaplastic ependymal tumor|WHO grade III ependymal neoplasm|undifferentiated ependymal tumor ordo_disease|gard_rare MONDO:0016701 oligoastrocytic tumor biolink:Disease mondo UMLS:CN201945|Orphanet:251651 ORPHA:251651|UMLS:CN201945 http://purl.obolibrary.org/obo/MONDO_0016701 mixed oligodendroglial and astrocytic tumor ordo_group_of_disorders UBERON:0001356 medial circumflex femoral artery biolink:AnatomicalEntity mondo The medial circumflex femoral artery (internal circumflex artery, medial femoral circumflex artery) is an artery in the upper thigh that helps supply blood to the neck of the femur. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001356 medial femoral circumflex artery|arteria circumflexa femoris medialis MONDO:0004709 occipital lobe neoplasm biolink:Disease mondo NCIT:C5574|UMLS:C0153638|SCTID:126957005|ICD9:191.4|ICD10:C71.4|DOID:910|UMLS:C1263889 A neoplasm involving a occipital lobe. DOID:910|SNOMEDCT:126957005|UMLS:C1263889|NCIT:C5574|UMLS:C0153638 http://purl.obolibrary.org/obo/MONDO_0004709 neoplasm of the occipital lobe|tumor of occipital lobe|neoplasm of occipital lobe|occipital lobe tumor|tumor of the occipital lobe|malignant neoplasm of occipital lobe|occipital lobe neoplasm|occipital lobe neoplasm (disease) UBERON:0001355 deep femoral artery biolink:AnatomicalEntity mondo The profunda femoris artery (also known as the deep femoral artery, or the deep artery of the thigh) is a branch of the femoral artery that, as its name suggests, travels more deeply (posteriorly) than the rest of the femoral artery. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001355 arteria profunda femoris|profunda femoris artery MONDO:0004706 discoid lupus erythematosus of eyelid biolink:Disease mondo UMLS:C0155180|ICD10:H01.12|COHD:432919|SCTID:79291003|ICD9:373.34|DOID:9076 SNOMEDCT:79291003|UMLS:C0155180|DOID:9076 http://purl.obolibrary.org/obo/MONDO_0004706 UBERON:0001352 external acoustic meatus biolink:AnatomicalEntity mondo A tube running from the outer ear to the middle ear. The human ear canal extends from the pinna to the eardrum and is about 26 mm in length and 7 mm in diameter. http://purl.obolibrary.org/obo/UBERON_0001352 auditory canal|external auditory meatus|external auditory tube|ear canal|external acoustic tube|external auditory canal|auditory meatus UBERON:0001351 lacrimal sac biolink:AnatomicalEntity mondo The upper dilated end of the nasolacrimal duct that is lodged in a deep groove formed by the lacrimal bone and frontal process of the maxilla; it connects the lacrimal canaliculi, which drain tears from the eye's surface, and the nasolacrimal duct, which conveys this fluid into the nasal cavity; like the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue. http://purl.obolibrary.org/obo/UBERON_0001351 lacrymal sac|saccus lacrimalis|lachrymal sac MONDO:0004705 liver solitary fibrous tumor biolink:Disease mondo NCIT:C5752|UMLS:C1333965|DOID:907 A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort. UMLS:C1333965|DOID:907|NCIT:C5752 http://purl.obolibrary.org/obo/MONDO_0004705 fibroma of the liver|liver solitary fibrous tumor|hepatic fibroma|liver localized fibrous mesothelioma|liver fibroma|fibroma of liver|liver localized fibrous tumor MONDO:0004708 esophagus carcinoma in situ biolink:Disease mondo DOID:9095|UMLS:C0154059|COHD:28109|SCTID:92585006|NCIT:C89771|ICD10:D00.1|ICD9:230.1 Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.) NCIT:C89771|DOID:9095|UMLS:C0154059|SNOMEDCT:92585006 http://purl.obolibrary.org/obo/MONDO_0004708 severe esophageal dysplasia aJCC v7|stage 0 esophagus carcinoma|esophagus in situ carcinoma|stage 0 esophageal cancer aJCC v7|stage 0 esophageal carcinoma in situ|carcinoma in situ of esophagus|esophageal carcinoma in situ|severe esophageal dysplasia|stage 0 carcinoma of the esophagus|stage 0 esophageal cancer|esophageal carcinoma in situ aJCC v7 MONDO:0004707 anal canal carcinoma in situ biolink:Disease mondo ICD9:230.6|DOID:9087|SCTID:92531006|NCIT:C7794|ICD9:230.5|UMLS:C2242854|UMLS:C0154064 A carcinoma in situ involving a anal canal. UMLS:C2242854|NCIT:C7794|UMLS:C0154064|SNOMEDCT:92531006|DOID:9087 http://purl.obolibrary.org/obo/MONDO_0004707 stage 0 anal canal cancer aJCC v7|stage 0 anal canal cancer aJCC v6|stage 0 anal canal carcinoma|stage 0 anal canal carcinoma aJCC v6 and v7|carcinoma in situ of anus|anal carcinoma in situ|carcinoma in situ of anal canal|stage 0 anal canal cancer|stage 0 anal carcinoma in situ|stage 0 anal carcinoma aJCC v6 and v7|anal canal in situ carcinoma|anal intraepithelial neoplasia grade III|anal carcinoma stage 0|stage 0 anal canal cancer aJCC v6 and v7 UBERON:0001353 anal region biolink:AnatomicalEntity mondo The anus and surrounding regions. Encompasses both internal and external regions, where present http://purl.obolibrary.org/obo/UBERON_0001353 posterior end of organism|posterior MONDO:0004724 submandibular gland cancer biolink:Disease mondo COHD:22557|SCTID:363380002|NCIT:C8396|UMLS:C0153360|ICD10:C08.0|ICD9:142.1|DOID:9173 A malignant neoplasm involving the submandibular gland. DOID:9173|UMLS:C0153360|SNOMEDCT:363380002|NCIT:C8396 http://purl.obolibrary.org/obo/MONDO_0004724 malignant neoplasm of submaxillary gland|submandibular gland carcinoma|cancer of submandibular gland|malignant tumor of the submandibular gland|submandibular gland cancer|carcinoma of the submandibular gland|carcinoma of submandibular gland|malignant neoplasm of submandibular gland|malignant submandibular gland neoplasm|malignant tumor of submandibular gland MONDO:0004723 liver leiomyoma biolink:Disease mondo UMLS:C1333968|DOID:917|NCIT:C5753 A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C5753|UMLS:C1333968|DOID:917 http://purl.obolibrary.org/obo/MONDO_0004723 liver leiomyoma|leiomyoma of liver|leiomyoma of the liver|hepatic leiomyoma MONDO:0004726 liver inflammatory myofibroblastic tumor biolink:Disease mondo NCIT:C5858|SCTID:717329009|DOID:918|UMLS:C1333967|EFO:1000324 A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. DOID:918|SNOMEDCT:717329009|NCIT:C5858|UMLS:C1333967 http://purl.obolibrary.org/obo/MONDO_0004726 liver inflammatory pseudotumor|liver inflammatory myofibroblastic tumor|inflammatory pseudotumor of the liver|hepatic inflammatory myofibroblastic tumor|inflammatory pseudotumor of liver MONDO:0004725 rectum carcinoma in situ biolink:Disease mondo NCIT:C4853|SCTID:308879003|COHD:75210|ICD10:D01.2|DOID:9174|ICD9:230.4|UMLS:C0154062 A in situ carcinoma that involves the rectum. SNOMEDCT:308879003|UMLS:C0154062|DOID:9174|NCIT:C4853 http://purl.obolibrary.org/obo/MONDO_0004725 stage 0 rectal cancer aJCC v7|marked rectal dysplasia|stage 0 rectal cancer aJCC v6|marked dysplasia of rectum|carcinoma in situ of the rectum|stage 0 rectal cancer aJCC v6 and v7|marked dysplasia of the rectum|stage 0 carcinoma of rectum|severe rectal dysplasia|stage 0 carcinoma of the rectum|rectal carcinoma in situ|stage 0 rectal carcinoma|stage 0 rectum carcinoma|severe dysplasia of rectum|stage 0 rectal cancer|carcinoma in situ of rectum|severe dysplasia of the rectum|rectum in situ carcinoma MONDO:0004720 variola minor infection biolink:Disease mondo NCIT:C34365|UMLS:C0001906|DOID:9153|SCTID:72294005|ICD9:050.1 A orthopoxvirus that causes a milder clinical syndrome than smallpox. DOID:9153|NCIT:C34365|UMLS:C0001906|SNOMEDCT:72294005 http://purl.obolibrary.org/obo/MONDO_0004720 whitepox|alastrim|cottonpox|milkpox|Variola minor UBERON:0001338 urethral gland biolink:AnatomicalEntity mondo Any of the numerous small mucous-secreting glands located in the wall of the male or female urethra that help protect the epithelium from the corrosive urine http://purl.obolibrary.org/obo/UBERON_0001338 urethra gland (male or female)|urethra gland|urethral mucuous gland|gland of urethra MONDO:0004722 obsolete Wiskott-Aldrich syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004722 MONDO:0004721 liver neoplasm biolink:Disease mondo NCIT:C7106|UMLS:C0023903|SCTID:126851005|EFO:1001513|DOID:916|ONCOTREE:LIVER A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma. UMLS:C0023903|SNOMEDCT:126851005|DOID:916|NCIT:C7106 http://purl.obolibrary.org/obo/MONDO_0004721 epithelial hepatic and intrahepatic bile duct neoplasm|liver and intrahepatic bile duct epithelial neoplasm|liver neoplasm (disease)|neoplasm of liver|liver tumor|tumor of liver UBERON:0001344 epithelium of vagina biolink:AnatomicalEntity mondo The epithelial layer of the vagina. http://purl.obolibrary.org/obo/UBERON_0001344 epithelium, vaginal|vagina epithelial tissue|vagina epithelium|epithelial tissue of vagina|vaginal epithelium MONDO:0004717 peliosis hepatis biolink:Disease mondo DOID:914|ICD10:K76.4|EFO:1001387|UMLS:C0030781|SCTID:58008004|MESH:D010382 A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs. UMLS:C0030781|SNOMEDCT:58008004|DOID:914|MESH:D010382 http://purl.obolibrary.org/obo/MONDO_0004717 hepatic peliosis MONDO:0004716 stomach carcinoma in situ biolink:Disease mondo ICD10:D00.2|COHD:200974|ICD9:230.2|DOID:9138|UMLS:C0154060|SCTID:92756002|NCIT:C7788 A in situ carcinoma that involves the stomach. SNOMEDCT:92756002|NCIT:C7788|UMLS:C0154060|DOID:9138 http://purl.obolibrary.org/obo/MONDO_0004716 stage 0 gastric cancer aJCC v6|stomach carcinoma in situ|stage 0 gastric (stomach) cancer|stage 0 stomach carcinoma|stomach carcinoma stage 0|stomach in situ carcinoma|stage 0 carcinoma of the stomach|stage 0 gastric cancer aJCC v6 and v7|stage 0 gastric cancer|stage 0 carcinoma of stomach|stage 0 gastric carcinoma in situ|stage 0 gastric carcinoma|carcinoma of the stomach stage 0|carcinoma in situ of the stomach|gastric carcinoma stage 0|carcinoma of stomach stage 0|gastric carcinoma in situ|stage 0 stomach cancer|carcinoma in situ of stomach|gastric carcinoma, stage 0|stage 0 gastric cancer aJCC v7 MONDO:0004719 hard palate cancer biolink:Disease mondo SCTID:363387004|ICD9:145.2|NCIT:C3528|DOID:9149|UMLS:C0153375|ICD10:C05.0 A malignant neoplasm involving the hard palate. SNOMEDCT:363387004|DOID:9149|UMLS:C0153375|NCIT:C3528 http://purl.obolibrary.org/obo/MONDO_0004719 hard palate|malignant tumour of hard palate|malignant tumor of the hard palate|malignant neoplasm of the hard palate|malignant neoplasm of hard palate|cancer of hard palate|malignant hard palate tumor|hard palate cancer|malignant tumor of hard palate|malignant hard palate neoplasm UBERON:0001343 seminiferous tubule of testis biolink:AnatomicalEntity mondo The tubules in the testes where spermatogenesis occurs. http://purl.obolibrary.org/obo/UBERON_0001343 seminiferous cord|seminiferous tubule|tubuli seminiferi|testis - seminiferous tubule|tubuli seminiferi MONDO:0004718 xeroderma of eyelid biolink:Disease mondo DOID:9140|UMLS:C0155179|SCTID:55846006|ICD9:373.33|ICD10:H01.14 UMLS:C0155179|SNOMEDCT:55846006|DOID:9140 http://purl.obolibrary.org/obo/MONDO_0004718 UBERON:0001326 levator ani muscle biolink:AnatomicalEntity mondo The Levator ani is a broad, thin muscle, situated on the side of the pelvis. It is attached to the inner surface of the side of the lesser pelvis, and unites with its fellow of the opposite side to form the greater part of the floor of the pelvic cavity. It supports the viscera in pelvic cavity, and surrounds the various structures which pass through it. In combination with the Coccygeus muscle, it forms the pelvic diaphragm. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001326 levator ani|musculus levator ani UBERON:0003988 thymus corticomedullary boundary biolink:AnatomicalEntity mondo The dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells http://purl.obolibrary.org/obo/UBERON_0003988 thymic cortico-medullary boundary|thymic corticomedullary junction|thymus cortico-medullary boundary|thymus corticomedullary zone|thymus CMZ|thymic corticomedullary zone|thymic corticomedullary boundary|thymus corticomedullary junction HGNC:16192 SLC17A9 biolink:OntologyClass mondo http://identifiers.org/hgnc/16192 UBERON:0001328 lobe of prostate biolink:AnatomicalEntity mondo A portion of a prostate that forms a lobe. http://purl.obolibrary.org/obo/UBERON_0001328 prostate gland lobe|prostatic lobe|lobe of prostate gland HGNC:28178 CCDC115 biolink:OntologyClass mondo http://identifiers.org/hgnc/28178 UBERON:0001334 female urethra biolink:AnatomicalEntity mondo A urethra that is part of a female reproductive system. http://purl.obolibrary.org/obo/UBERON_0001334 urethra feminina|urethra muliebris UBERON:0001333 male urethra biolink:AnatomicalEntity mondo A urethra that is part of a male reproductive system. http://purl.obolibrary.org/obo/UBERON_0001333 UBERON:0001335 prostatic urethra biolink:AnatomicalEntity mondo the widest and most dilatable part of the male urethra canal which runs almost vertically through the prostate from its base to its apex, lying nearer its anterior than its posterior surface; this portion of the urethral canal is spindle-shaped, being wider in the middle than at either extremity, and narrowest below, where it joins the membranous portion; it is lined by transitional epithelium and contains in its posterior wall, or floor, the orifices of the prostatic utricle, ejaculatory ducts, and prostatic ducts, collectively known as the seminal colliculus (aka verumontanum) http://purl.obolibrary.org/obo/UBERON_0001335 prostatic part of urethra|prostatic part of male urethra|pars prostatica urethrae|male prostatic urethra|pars prostatica urethrae UBERON:0001330 pampiniform plexus biolink:AnatomicalEntity mondo The pampiniform plexus is a network of many small veins found in the male spermatic cord. It is formed by the union of multiple spermatic veins from the back of the testis and tributaries from the epididymis. The veins of the plexus ascend along the cord in front of the ductus deferens. Below the subcutaneous inguinal ring they unite to form three or four veins, which pass along the inguinal canal, and, entering the abdomen through the abdominal inguinal ring, coalesce to form two veins. These again unite to form a single vein, the testicular vein, which opens on the right side into the inferior vena cava, at an acute angle, and on the left side into the left renal vein, at a right angle. The pampinoform plexus forms the chief mass of the cord. In addition to its function in venous return from the testes, the pampiniform plexus also plays a role in the temperature regulation of the testes. It acts as a heat exchanger, cooling blood in adjacent arteries. An abnormal enlargement of the pampiniform plexus is a medical condition called varicocele. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001330 venous plexus of fascia of prostate gland|venous plexus of fascia of prostate|pampiniform venous plexus|plexus of veins of fascia of prostate|plexus venosus pampiniformis UBERON:0001332 prepuce of penis biolink:AnatomicalEntity mondo A retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. http://purl.obolibrary.org/obo/UBERON_0001332 preputium|preputium penis|foreskin|praeputium|penile prepuce|prepucium|prepuce of male|prepuce UBERON:0001331 skin of penis biolink:AnatomicalEntity mondo A zone of skin that is part of a penis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001331 penis skin|zone of skin of penis|penile skin|penis zone of skin MONDO:0004702 uterine cervix leukoplakia biolink:Disease mondo NCIT:C3976|UMLS:C0269194|ICD9:622.2|SCTID:50923006|DOID:9043|ICD10:N88.0 The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present. SNOMEDCT:50923006|DOID:9043|UMLS:C0269194|NCIT:C3976 http://purl.obolibrary.org/obo/MONDO_0004702 leukoplakia of cervix|leukoplakia of the cervix|leukoplakia of the uterine cervix|cervical leukoplakia|leukoplakia of the cervix uteri|leukoplakia of uterine cervix|leukoplakia of cervix uteri|leukoplakia of cervix (uteri)|cervix leukoplakia|cervix uteri leukoplakia MONDO:0004701 uterine polyp biolink:Disease mondo NCIT:C3662|ICD10:N84.0|UMLS:C0156369|ICD9:621.0|SCTID:11314008|DOID:9042|COHD:200779 A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. UMLS:C0156369|DOID:9042|SNOMEDCT:11314008|NCIT:C3662 http://purl.obolibrary.org/obo/MONDO_0004701 polyp of uterus|uterus polyp|endometrial/uterine polyp|polyp of corpus uteri|polyp of endometrium|polyp, uterus|uterine polyp|polyp of the uterus UBERON:0001319 vaginal vein biolink:AnatomicalEntity mondo One the veins that drains the vaginal venous plexus, into the hypogastric veins. [WP,modified]. http://purl.obolibrary.org/obo/UBERON_0001319 vein of vagina|vagina vein MONDO:0004704 obsolete peroxisomal disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004704 MONDO:0004703 bladder carcinoma in situ biolink:Disease mondo ICD10:D09.0|NCIT:C3644|ICD9:233.7|UMLS:C0154091|COHD:192855|SCTID:92546004|DOID:9053 Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) SNOMEDCT:92546004|DOID:9053|UMLS:C0154091|NCIT:C3644 http://purl.obolibrary.org/obo/MONDO_0004703 urinary bladder flat CIS|stage 0 urinary bladder carcinoma|stage 0is carcinoma of the urinary bladder|stage 0is bladder carcinoma|stage 0is carcinoma of urinary bladder|stage 0is bladder urothelial carcinoma|stage 0is bladder urothelial carcinoma aJCC v6 and v7|urinary bladder in situ carcinoma|flat carcinoma in situ of the urinary bladder|flat CIS of the bladder|bladder flat carcinoma in situ|stage 0is carcinoma of the bladder|stage 0is bladder urothelial cancer|urinary bladder carcinoma in situ|stage 0is bladder cancer|stage 0is carcinoma of bladder|flat carcinoma in situ of the bladder|stage 0is bladder urothelial carcinoma aJCC v7|bladder flat CIS|stage 0is urinary bladder carcinoma|carcinoma in situ of urinary bladder|stage 0is bladder urothelial carcinoma aJCC v6|carcinoma in situ of the urinary bladder|cancer in situ of urinary bladder|urinary bladder flat carcinoma in situ|high grade bladder Intraurothelial neoplasia|bladder Ca in situ|flat CIS of the urinary bladder|carcinoma in situ of bladder MONDO:0004700 parotid gland cancer biolink:Disease mondo UMLS:C0747273|ICD9:142.0|ICD10:C07|MESH:D010307|SCTID:363379000|DOID:9036|NCIT:C3525 A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma. UMLS:C0747273|MESH:D010307|DOID:9036|SNOMEDCT:363379000|NCIT:C3525 http://purl.obolibrary.org/obo/MONDO_0004700 malignant tumor of the parotid gland|cancer of parotid gland|malignant tumor of parotid gland|cancer of the parotid gland|malignant tumor of the parotid|malignant tumor of parotid|malignant neoplasm of the parotid|cancer of the parotid|cancer of parotid|malignant parotid gland neoplasm|malignant parotid neoplasm|malignant neoplasm of parotid gland|parotid gland cancer|malignant neoplasm of the parotid gland|malignant parotid gland tumor|malignant neoplasm of parotid|malignant parotid tumor|parotid cancer UBERON:0001318 inferior vesical vein biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0001318 UBERON:0003978 valve biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0003978 anatomical valve UBERON:0001317 internal iliac vein biolink:AnatomicalEntity mondo A vein that begins near the upper part of the greater sciatic foramen, passes upward behind and slightly medial to the hypogastric artery and, at the brim of the pelvis, joins with the external iliac to form the common iliac vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001317 hypogastric vein|v. iliaca interna|v. hypogastrica NCBITaxon:69034 Rotaliidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_69034 UBERON:0001323 tibial nerve biolink:AnatomicalEntity mondo The tibial nerve is a branch of the sciatic nerve. The tibial nerve passes through the popliteal fossa to pass below the arch of soleus. In the popliteal fossa the nerve gives off branches to gastrocnemius, popliteus, soleus and plantaris muscles, an articular branch to the knee joint, and a cutaneous branch that will become the sural nerve. The sural nerve is joined by fibres from the common peroneal nerve and runs down the calf to supply the lateral side of the foot. Below the soleus muscle the nerve lies close to the tibia and supplies the tibialis posterior, the flexor digitorum longus and the flexor hallucis longus. The nerve passes into the foot running posterior to the medial malleolus. Here it is bound down by the flexor retinaculum in company with the posterior tibial artery. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001323 n. tibialis|medial popliteal nerve UBERON:0001322 sciatic nerve biolink:AnatomicalEntity mondo A large nerve that supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. It begins in the lower back and runs through the buttock and down the lower limb. http://purl.obolibrary.org/obo/UBERON_0001322 ischiatic nerve|ischiadic nerve|nervus ischiadicus|nervus sciaticus UBERON:0003984 uterine tube infundibulum biolink:AnatomicalEntity mondo The funnel-like expansion of the abdominal extremity of the uterine tube[MP] http://purl.obolibrary.org/obo/UBERON_0003984 infundibulum of uterine tube|infundibulum of fallopian tube|infundibulum tubae uterinae|infundibulum of oviduct|infundibulum UBERON:0001325 muscle of pelvis biolink:AnatomicalEntity mondo Muscle (organ) which is a part of the pelvis. Examples: levator ani, http://purl.obolibrary.org/obo/UBERON_0001325 pelvis muscle organ|pelvis muscle|pelvic muscle|muscle organ of pelvis UBERON:0001324 common fibular nerve biolink:AnatomicalEntity mondo A nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscle[MP]. http://purl.obolibrary.org/obo/UBERON_0001324 lateral popliteal nerve|n. fibularis communis|extrernal peroneal nerve|n. peroneus communis|common peroneal nerve|nervus peroneus communis|nervus fibularis communis UBERON:0003983 conus arteriosus biolink:AnatomicalEntity mondo A conical pouch formed from the upper and left angle of the right ventricle in the chordate heart, from which the pulmonary artery arises[WP]. the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminates in the pulmonary trunk[MP]. http://purl.obolibrary.org/obo/UBERON_0003983 UBERON:0003980 cerebellum fissure biolink:AnatomicalEntity mondo One of a set of deep furrows which divide the lobules of the cerebellum. Examples: postcentral, primary and secondary furrows http://purl.obolibrary.org/obo/UBERON_0003980 sulcus of cerebellum|cerebellar sulcus|fissurae cerebelli|set of cerebellar fissures|cerebellar sulci|cerebellar fissures set|cerebellar fissures|cerebellar fissure HGNC:16171 CHMP4B biolink:OntologyClass mondo http://identifiers.org/hgnc/16171 PATO:0001739 radiation quality biolink:OntologyClass mondo A quality that inheres in an bearer by virtue of how that bearer interacts with radiation. http://purl.obolibrary.org/obo/PATO_0001739 HP:0007663 Reduced visual acuity biolink:PhenotypicFeature mondo UMLS:C0234632|SNOMEDCT_US:13164000 http://purl.obolibrary.org/obo/HP_0007663 Decreased clarity of vision|Decreased visual acuity|Decreased central vision|Poor visual acuity HGNC:16175 RSPO4 biolink:OntologyClass mondo http://identifiers.org/hgnc/16175 HGNC:28163 CCDC28B biolink:OntologyClass mondo http://identifiers.org/hgnc/28163 HGNC:16187 SLC52A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/16187 PATO:0001759 granular biolink:OntologyClass mondo A composition quality inhering in a bearer by virtue of the bearer's containing granules. http://purl.obolibrary.org/obo/PATO_0001759 MONDO:0014093 retinitis pigmentosa 66 biolink:Disease mondo UMLS:C3715216|ICD10:H35.5|DOID:0110393|OMIM:615233 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene. DOID:0110393|http://identifiers.org/omim/615233|UMLS:C3715216 http://purl.obolibrary.org/obo/MONDO_0014093 RBP3 retinitis pigmentosa|retinitis pigmentosa 66; RP66|retinitis pigmentosa type 66|retinitis pigmentosa 66|retinitis pigmentosa caused by mutation in RBP3|RP66 MONDO:0014092 schizophrenia 18 biolink:Disease mondo UMLS:C3808913|DOID:0070093|OMIM:615232 A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2. http://identifiers.org/omim/615232|UMLS:C3808913|DOID:0070093 http://purl.obolibrary.org/obo/MONDO_0014092 schizophrenia 18|schizophrenia type 18|SCZD18|chromosome 7q36.3 Duplication syndrome, 362-Kb|schizophrenia 18; SCZD18|schizophrenia 18 with or without an affective disorder|schizoaffective disorder MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 biolink:Disease mondo DOID:0060333|ICD10:E88.8|OMIM:615228|UMLS:C3808899 Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene. DOID:0060333|http://identifiers.org/omim/615228|UMLS:C3808899 http://purl.obolibrary.org/obo/MONDO_0014091 ATP5F1A mitochondrial complex deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 4; MC5DN4|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4|mitochondrial complex deficiency caused by mutation in ATP5F1A|mitochondrial Complex 5 (ATP synthase) deficiency, Atp5A1 type|MC5DN4|mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 MONDO:0014090 polydactyly, postaxial, type A6 biolink:Disease mondo OMIM:615226|UMLS:C3808889 UMLS:C3808889|http://identifiers.org/omim/615226 http://purl.obolibrary.org/obo/MONDO_0014090 polydactyly, postaxial, type A6; PAPA6|PAPA6|polydactyly, postaxial, type A6 MONDO:0014097 congenital short bowel syndrome biolink:Disease mondo ICD10:Q43.8|SCTID:715201005|Orphanet:2301 Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. SNOMEDCT:715201005|ORPHA:2301 http://purl.obolibrary.org/obo/MONDO_0014097 CSBS|congenital short bowel syndrome|congenital short bowel syndrome; CSBS ordo_morphological_anomaly MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome biolink:Disease mondo SCTID:719396000|GARD:0003498|UMLS:C0796203|Orphanet:137658|ICD10:Q87.8|OMIM:615236 This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). http://identifiers.org/omim/615236|UMLS:C0796203|ORPHA:137658|SNOMEDCT:719396000 http://purl.obolibrary.org/obo/MONDO_0014096 Woods-Crouchman-Huson syndrome|WOODS syndrome ordo_malformation_syndrome|gard_rare MONDO:0014095 dilated cardiomyopathy 1JJ biolink:Disease mondo OMIM:615235|DOID:0110438|ICD10:I42.0|UMLS:C3808935 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene. DOID:0110438|http://identifiers.org/omim/615235|UMLS:C3808935 http://purl.obolibrary.org/obo/MONDO_0014095 dilated cardiomyopathy type 1JJ|CMD1JJ|cardiomyopathy, dilated, type 1Jj|familial isolated dilated cardiomyopathy caused by mutation in LAMA4|cardiomyopathy, dilated, 1JJ; CMD1JJ|LAMA4 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1JJ MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts biolink:Disease mondo OMIM:615234|SCTID:725463007|ICD10:D64.0|Orphanet:300298|UMLS:C4511137|UMLS:C3808920 STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. UMLS:C4511137|ORPHA:300298|http://identifiers.org/omim/615234|UMLS:C3808920|SNOMEDCT:725463007 http://purl.obolibrary.org/obo/MONDO_0014094 severe congenital hypochromic sideroblastic anemia|AHMIO2|anemia, hypochromic microcytic, with iron overload 2; AHMIO2|anemia, hypochromic microcytic, with iron overload type 2|anemia, hypochromic microcytic, with iron overload 2 ordo_disease MONDO:0014099 nephrotic syndrome, type 8 biolink:Disease mondo OMIM:615244|UMLS:C3808953 Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. http://identifiers.org/omim/615244|UMLS:C3808953 http://purl.obolibrary.org/obo/MONDO_0014099 nephrotic syndrome caused by mutation in ARHGDIA|nephrotic syndrome, type 8|ARHGDIA nephrotic syndrome|nephrotic syndrome, type 8; NPHS8|NPHS8 MONDO:0014098 CIDEC-related familial partial lipodystrophy biolink:Disease mondo DOID:0070203|ICD10:E88.1|UMLS:C3808940|GARD:0013125|Orphanet:435651|OMIM:615238 ORPHA:435651|UMLS:C3808940|http://identifiers.org/omim/615238|DOID:0070203 http://purl.obolibrary.org/obo/MONDO_0014098 lipodystrophy, familial partial, type 5; FPLD5|CIDEC-related FPLD|lipodystrophy, familial partial, type 5|FPLD5|lipodystrophy, familial partial, associated with Cidec mutations ordo_disease UBERON:0003928 digestive system duct biolink:AnatomicalEntity mondo A duct that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003928 duct of digestive system|duct of gastrointestinal system|gastrointestinal system duct HGNC:18791 ZFP57 biolink:OntologyClass mondo http://identifiers.org/hgnc/18791 NCBITaxon:694017 Torovirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_694017 UBERON:0003929 digestive tract epithelium biolink:AnatomicalEntity mondo An epithelium that lines the lumen of the digestive tract. http://purl.obolibrary.org/obo/UBERON_0003929 epithelium of digestive tract|epithelial tissue of digestive tract|epithelium of gut|epithelial tissue of gut|alimentary tract epithelium|digestive tract epithelial tissue|gut epithelium|gut epithelial tissue|gastrodermis NCBITaxon:694014 Avian coronavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_694014 ACoV UBERON:0003924 ventral pancreatic bud biolink:AnatomicalEntity mondo pancreatic bud that gives rise to the major pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0003924 ventral pancreas anlage|pancreas primordium ventral bud|pancreas ventral primordium duct bud|anterior pancreatic anlage|ventral pancreatic anlage|anterior pancreatic bud NCBITaxon:694013 Gammacoronavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_694013 Coronavirus group 3|Coronavirus|Group 3 species UBERON:0003922 pancreatic epithelial bud biolink:AnatomicalEntity mondo The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. http://purl.obolibrary.org/obo/UBERON_0003922 pancreas epithelium|pancreatic bud|pancreatic anlage|pancreatic buds UBERON:0003923 dorsal pancreatic bud biolink:AnatomicalEntity mondo pancreatic bud that gives rise to the accessory pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0003923 dorsal pancreas anlage|primary pancreatic bud|posterior pancreatic anlage|posterior pancreatic bud|pancreas primordium dorsal bud|dorsal pancreatic anlage|pancreas dorsal primordium duct bud CHEBI:46195 paracetamol biolink:ChemicalSubstance mondo A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group. http://purl.obolibrary.org/obo/CHEBI_46195 Tylenol|Panadol|4-(Acetylamino)phenol|4-acetamidophenol|N-(4-hydroxyphenyl)acetamide|p-Acetylaminophenol|p-hydroxyphenolacetamide|paracetamol|p-acetamidophenol|Acenol|acetaminophene|p-hydroxyacetanilide|N-acetyl-p-aminophenol|paracetamolum|4'-hydroxyacetanilide|Acetaminofen|acetaminofen|Paracetamol|Acetaminophen|APAP|p-acetaminophenol NCBITaxon:11709 Human immunodeficiency virus 2 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11709 HIV-2|HIV type 2|Human immunodeficiency virus type 2|AIDS virus|HIV2|human immunodeficiency virus type 2, HIV-2|human immunodeficiency virus type 2 HIV-2|LAV-2|Human immunodeficiency virus-2|HIV UBERON:0003931 diencephalic white matter biolink:AnatomicalEntity mondo White matter that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003931 white matter of diencephalon|diencephalic tracts and commissures|diencephalic tract/commissure|predominantly white regional part of diencephalon UBERON:0003932 cartilage element of chondrocranium biolink:AnatomicalEntity mondo A cartilage element of chondrocranium. Example: neurocranial trabecula. http://purl.obolibrary.org/obo/UBERON_0003932 neurocranium cartilage|chondrocranium cartilage|cartilage of chondrocranium|cartilaginous element of chondrocranium HGNC:16133 TBC1D20 biolink:OntologyClass mondo http://identifiers.org/hgnc/16133 UBERON:0003918 kidney mesenchyme biolink:AnatomicalEntity mondo Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. http://purl.obolibrary.org/obo/UBERON_0003918 mesenchyme of kidney UBERON:0003915 endothelial tube biolink:AnatomicalEntity mondo Any endothelium that has the quality of being cylindrical [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003915 UBERON:0003916 fat pad biolink:AnatomicalEntity mondo A mass of closely packed fat cells (adipose tissue) surrounded by fibrous tissue septa[TMD]. http://purl.obolibrary.org/obo/UBERON_0003916 fat body UBERON:0003913 tooth-like structure biolink:AnatomicalEntity mondo hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like organ UBERON:0003914 epithelial tube biolink:AnatomicalEntity mondo Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/UBERON_0003914 epithelial or endothelial tube UBERON:0003911 choroid plexus epithelium biolink:AnatomicalEntity mondo The epithelial component of the choroid plexus. Consists of cuboidal epithelial cells surrounding a core of capillaries and loose connective tissue. http://purl.obolibrary.org/obo/UBERON_0003911 choroid plexus epithelial tissue|epithelial tissue of choroid plexus|epithelium of choroid plexus|epithelial tissue of chorioid plexus of cerebral hemisphere UBERON:0003920 venous blood vessel biolink:AnatomicalEntity mondo A blood vessel that carries blood from the capillaries toward the heart http://purl.obolibrary.org/obo/UBERON_0003920 segment of venous tree organ|venous tree organ segment UBERON:0003921 pancreas primordium biolink:AnatomicalEntity mondo embryonic structure that develops into pancreatic bud. http://purl.obolibrary.org/obo/UBERON_0003921 pancreatic anlage|pancreatic endoderm|pancreatic primordium|primordial pancreas UBERON:0003902 retinal neural layer biolink:AnatomicalEntity mondo The part of the retina that contains neurons and photoreceptor cells[GO]. http://purl.obolibrary.org/obo/UBERON_0003902 neural retina|stratum nervosum (retina)|neuroretina|stratum nervosum retinae|neural retinal epithelium|neural layer of retina UBERON:0003909 sinusoid biolink:AnatomicalEntity mondo small blood vessel similar to a capillary but with a fenestrated endothelium. Sinusoids are found in the liver, lymphoid tissue, endocrine organs, and hematopoietic organs such as the bone marrow and the spleen. Sinusoids found within terminal villi of the placenta are not comparable to these; they possess a continuous endothelium and complete basal lamina[WP]. http://purl.obolibrary.org/obo/UBERON_0003909 sinusoidal blood vessel endothelium|sinusoidal blood vessel|sinusoidal endothelium|sinusoidal capillary|endothelium of irregular blood filled space UBERON:0003910 splenic sinusoid biolink:AnatomicalEntity mondo wide vessels in the spleen that drain into trabecular veins[WP]. http://purl.obolibrary.org/obo/UBERON_0003910 sinusoid of red pulp of spleen|sinusoidal blood vessel of spleen NCBITaxon:694002 Betacoronavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_694002 Coronavirus group 2|Coronavirus|Group 2 species NCBITaxon:694009 Severe acute respiratory syndrome-related coronavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_694009 SARS virus|SARSr-CoV|SARS-like coronavirus|SARS|Human coronavirus (strain SARS)|HCoV-SARS|SARS coronavirus|Severe acute respiratory syndrome coronavirus|SARS-related coronavirus|SARSrCoV HGNC:18782 CCDC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/18782 NCBITaxon:11741 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11741 MONDO:0002178 placenta cancer biolink:Disease mondo UMLS:C0153572|DOID:2021|ICD10:C58|NCIT:C3555|SCTID:126920004|ICD9:181|ICD9:239.5 A malignant neoplasm involving the placenta. DOID:2021|SNOMEDCT:126920004|UMLS:C0153572|NCIT:C3555 http://purl.obolibrary.org/obo/MONDO_0002178 malignant neoplasm of placenta|malignant placenta neoplasm|malignant placenta tumor|malignant neoplasm of the placenta|placental tumors|deciduoma, malignant|malignant placental neoplasm|malignant placental tumor|cancer of placenta|neoplasm of placenta|primary malignant neoplasm of placenta|malignant tumor of placenta|malignant tumor of the placenta|placenta cancer|placental cancer MONDO:0002179 obsolete placental choriocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002179 GO:1901569 fatty acid derivative catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of fatty acid derivative. http://purl.obolibrary.org/obo/GO_1901569 fatty acid derivative degradation|fatty acid derivative breakdown|fatty acid derivative catabolism MONDO:0002174 preretinal fibrosis biolink:Disease mondo ICD9:362.56|ICD9:362.89|MESH:D019773|DOID:2006|SCTID:367649002 A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291) MESH:D019773|SNOMEDCT:367649002|DOID:2006 http://purl.obolibrary.org/obo/MONDO_0002174 macular retinal puckering|cellophane maculopathy|macular puckering of retina MONDO:0002175 degeneration of macula and posterior pole biolink:Disease mondo UMLS:C0339436|SCTID:267611002|ICD9:362.5|DOID:2007|ICD10:H35.3 SNOMEDCT:267611002|UMLS:C0339436|DOID:2007 http://purl.obolibrary.org/obo/MONDO_0002175 degeneration of macula or posterior pole|degeneration of macula and posterior pole of retina GO:1901568 fatty acid derivative metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving fatty acid derivative. http://purl.obolibrary.org/obo/GO_1901568 fatty acid derivative metabolism GO:1901565 organonitrogen compound catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. http://purl.obolibrary.org/obo/GO_1901565 organonitrogen compound catabolism|organonitrogen compound degradation|organonitrogen compound breakdown MONDO:0002176 connective tissue cancer biolink:Disease mondo DOID:201 A malignant neoplasm involving the connective tissue DOID:201 http://purl.obolibrary.org/obo/MONDO_0002176 tumour of connective tissue|malignant connective tissue neoplasm|cancer of connective tissue|malignant neoplasm of connective tissue|connective tissue neoplasm|neoplasm of connective tissues|connective tissue cancer MONDO:0002177 hyperinsulinism (disease) biolink:Disease mondo SCTID:83469008|ICD10:E16.1|UMLS:C0020459|DOID:2018|ICD9:251.1|MESH:D006946|HP:0000842 Abnormally high levels of insulin in the blood. NCIT:C113104|MESH:D006946|UMLS:C0020459|SNOMEDCT:83469008|DOID:2018 http://purl.obolibrary.org/obo/MONDO_0002177 hyperinsulinemia|hyperinsulinism NCBITaxon:2315720 Trochida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2315720 GO:1901566 organonitrogen compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of organonitrogen compound. http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound anabolism|organonitrogen compound biosynthesis|organonitrogen compound synthesis|organonitrogen compound formation MONDO:0002170 chronic eustachian salpingitis biolink:Disease mondo ICD10:H68.029|DOID:1999|ICD9:381.52|SCTID:194269002|UMLS:C0155430|ICD10:H68.02 Chronic form of otosalpingitis. SNOMEDCT:194269002|DOID:1999|UMLS:C0155430 http://purl.obolibrary.org/obo/MONDO_0002170 chronic otosalpingitis|chronic eustachian tube salpingitis|otosalpingitis, chronic MONDO:0002171 giant cell tumor biolink:Disease mondo DOID:200|UMLS:C0017525|SCTID:443790001|NCIT:C3055|MESH:D005870 A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells. MESH:D005870|UMLS:C0017525|NCIT:C3055|SNOMEDCT:443790001|DOID:200 http://purl.obolibrary.org/obo/MONDO_0002171 giant cell tumor|tumor of the giant cell|giant cell tumor NOS (morphologic abnormality)|giant cell tumor (qualifier value)|giant cell tumors|giant cell tumor (morphologic abnormality)|giant cell tumors (morphologic abnormality)|giant cell neoplasm GO:1901564 organonitrogen compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving organonitrogen compound. http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolism MONDO:0002172 otosalpingitis biolink:Disease mondo ICD9:381.5|ICD10:H68.0|SCTID:270491006|ICD10:H68.00|ICD10:H68.009|ICD9:381.50|UMLS:C0155428|DOID:2000 An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube. SNOMEDCT:270491006|DOID:2000|UMLS:C0155428 http://purl.obolibrary.org/obo/MONDO_0002172 inflammation of pharyngotympanic tube|Eustachian tube salpingitis|Eustachian salpingitis|pharyngotympanic tube inflammation MONDO:0002173 neuroma biolink:Disease mondo ICDO:9570/0|SCTID:443892003|UMLS:C0027858|NCIT:C3275|ICD9:215.9|DOID:2001|MESH:D009463 A tumor that grows from a nerve or is composed of nerve cells and nerve fibers. NCIT:C3275|SNOMEDCT:443892003|UMLS:C0027858|MESH:D009463|DOID:2001 http://purl.obolibrary.org/obo/MONDO_0002173 GO:0060474 positive regulation of flagellated sperm motility involved in capacitation biolink:OntologyClass mondo The process in which the controlled movement of a flagellated sperm cell is initiated as part of the process required for flagellated sperm to reach fertilization competence. http://purl.obolibrary.org/obo/GO_0060474 positive regulation of sperm motility involved in capacitation MONDO:0014169 dyschromatosis universalis hereditaria 3 biolink:Disease mondo UMLS:C3809394|OMIM:615402 Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene. UMLS:C3809394|http://identifiers.org/omim/615402 http://purl.obolibrary.org/obo/MONDO_0014169 dyschromatosis universalis hereditaria caused by mutation in ABCB6|dyschromatosis universalis hereditaria 3; DUH3|dyschromatosis universalis hereditaria 3|dyschromatosis universalis hereditaria type 3|DUH3|ABCB6 dyschromatosis universalis hereditaria MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency biolink:Disease mondo UMLS:C3809383|ICD10:D81.2|Orphanet:228003|DOID:0060019|OMIM:615401 DOID:0060019|UMLS:C3809383|ORPHA:228003|http://identifiers.org/omim/615401 http://purl.obolibrary.org/obo/MONDO_0014168 IMD8|severe combined immunodeficiency due to coronin-1A deficiency|SCID due to coronin-1A deficiency|immunodeficiency 8; IMD8|coronin-1A deficiency|immunodeficiency 8|SCID due to CORO1A deficiency|immunodeficiency type 8 ordo_disease MONDO:0041775 intraoperative floppy iris syndrome biolink:Disease mondo UMLS:C1688637|SCTID:418801006 SNOMEDCT:418801006|UMLS:C1688637 http://purl.obolibrary.org/obo/MONDO_0041775 intraoperative floppy iris syndrome MONDO:0014163 left ventricular noncompaction 10 biolink:Disease mondo OMIM:615396|UMLS:C3715165 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene. http://identifiers.org/omim/615396|UMLS:C3715165 http://purl.obolibrary.org/obo/MONDO_0014163 MYBPC3 left ventricular noncompaction|left ventricular noncompaction caused by mutation in MYBPC3|left ventricular noncompaction 10; LVNC10|left ventricular noncompaction 10|left ventricular noncompaction type 10|cardiomyopathy, dilated, 1Mm|LVNC10 MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency biolink:Disease mondo GARD:0012892|Orphanet:352563|ICD10:I42.2|OMIM:615395|UMLS:C3809339 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. http://identifiers.org/omim/615395|ORPHA:352563|UMLS:C3809339 http://purl.obolibrary.org/obo/MONDO_0014162 combined oxidative phosphorylation defect type 16|combined oxidative phosphorylation deficiency 16|MRPL44 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 16; COXPD16|combined oxidative phosphorylation deficiency caused by mutation in MRPL44|combined oxidative phosphorylation deficiency type 16|COXPD16 ordo_disease MONDO:0014161 VUR7 biolink:Disease mondo OMIM:615390|UMLS:C3809337 http://identifiers.org/omim/615390|UMLS:C3809337 http://purl.obolibrary.org/obo/MONDO_0014161 VUR7|vesicoureteral reflux 7|vesicoureteral reflux 7; VUR7 MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency biolink:Disease mondo Orphanet:397959|ICD10:D84.8|UMLS:C3809332|OMIM:615387 ORPHA:397959|http://identifiers.org/omim/615387|UMLS:C3809332 http://purl.obolibrary.org/obo/MONDO_0014160 T-cell receptor-ALPHA/BETA deficiency|TCR-alpha-beta+ T-cell deficiency|TCR-Alpha/Beta deficiency|immunodeficiency 7 ordo_disease MONDO:0014167 epilepsy, familial adult myoclonic, 5 biolink:Disease mondo OMIM:615400|UMLS:C3809374 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene. UMLS:C3809374|http://identifiers.org/omim/615400 http://purl.obolibrary.org/obo/MONDO_0014167 epilepsy, familial adult myoclonic, 5|epilepsy, familial ADULT myoclonic, 5; FAME5|epilepsy, familial adult myoclonic, type 5|epilepsy, familial adult myoclonic caused by mutation in CNTN2|FAME5|CNTN2 epilepsy, familial adult myoclonic|cortical myoclonic tremor with epilepsy, familial, 5 MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 biolink:Disease mondo OMIM:615399|UMLS:C3809369 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. http://identifiers.org/omim/615399|UMLS:C3809369 http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT|PNH2|PIGT paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria 2|paroxysmal nocturnal hemoglobinuria 2; PNH2|paroxysmal nocturnal hemoglobinuria type 2 HGNC:18873 IFIH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18873 MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 biolink:Disease mondo DOID:0080140|ICD10:Q87.8|UMLS:C3809356|Orphanet:369837|OMIM:615398 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. http://identifiers.org/omim/615398|DOID:0080140|ORPHA:369837|UMLS:C3809356 http://purl.obolibrary.org/obo/MONDO_0014165 multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT|multiple congenital anomalies-hypotonia-seizures syndrome 3; MCAHS3|congenital disorder of glycosylation due to PIGT deficiency|multiple congenital anomalies-hypotonia-seizures syndrome 3|PIGT-CDG|multiple congenital anomalies-hypotonia-seizures syndrome type 3|glycosylphosphatidylinositol biosynthesis defect 7|PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability|intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome|MCAHS type 3|MCAHS3 ordo_malformation_syndrome MONDO:0014164 Meckel syndrome, type 11 biolink:Disease mondo OMIM:615397|UMLS:C3809352 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://identifiers.org/omim/615397|UMLS:C3809352 http://purl.obolibrary.org/obo/MONDO_0014164 Meckel syndrome, type 11; MKS11|MKS11|Meckel syndrome, type 11|TMEM231 Meckel syndrome|Meckel syndrome caused by mutation in TMEM231 HGNC:18871 MMAA biolink:OntologyClass mondo http://identifiers.org/hgnc/18871 MONDO:0002189 nodular hidradenoma biolink:Disease mondo SCTID:253020008|DOID:2061|NCIT:C7568|ICDO:8402/0 A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative. SNOMEDCT:253020008|DOID:2061|NCIT:C7568 http://purl.obolibrary.org/obo/MONDO_0002189 eccrine nodular hidradenoma|solid and cystic hidradenoma|nodular hidradenoma HGNC:28209 CEP19 biolink:OntologyClass mondo http://identifiers.org/hgnc/28209 MONDO:0002185 hyperostosis biolink:Disease mondo SCTID:203514008|UMLS:C0020492|MESH:D015576|ICD10:M89.3|ICD9:733.99|DOID:205|ICD10:M89.30|NCIT:C34712 Excessive thickening of bone. UMLS:C0020492|SNOMEDCT:203514008|MESH:D015576|DOID:205|NCIT:C34712 http://purl.obolibrary.org/obo/MONDO_0002185 hypertrophy of bone|bone hypertrophy|hypertrophy of bone (morphologic abnormality) MONDO:0002186 acute maxillary sinusitis biolink:Disease mondo UMLS:C0155804|ICD10:J01.00|DOID:2050|ICD10:J01.0|COHD:141323|ICD9:461.0|SCTID:68272006 Acute form of maxillary sinusitis. UMLS:C0155804|SNOMEDCT:68272006|DOID:2050 http://purl.obolibrary.org/obo/MONDO_0002186 maxillary sinusitis, acute|acute antritis MONDO:0002187 vulvar disease biolink:Disease mondo NCIT:C27631|UMLS:C0042994|SCTID:5089007|DOID:2059|MESH:D014845 A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma. NCIT:C27631|SNOMEDCT:5089007|MESH:D014845|DOID:2059|UMLS:C0042994 http://purl.obolibrary.org/obo/MONDO_0002187 vulval disorder|vulvar disease|vulvar disorder|disorder of vulva GO:1901576 organic substance biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/GO_1901576 organic molecular entity formation|organic molecular entity biosynthetic process|organic molecular entity biosynthesis|organic substance anabolism|organic substance biosynthesis|organic molecular entity anabolism|organic substance synthesis|organic molecular entity synthesis|organic substance formation MONDO:0002188 vulvar nodular hidradenoma biolink:Disease mondo DOID:2060|NCIT:C40312|UMLS:C1520091 A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm. UMLS:C1520091|NCIT:C40312|DOID:2060 http://purl.obolibrary.org/obo/MONDO_0002188 nodular hidradenoma of mammalian vulva|mammalian vulva nodular hidradenoma|vulvar nodular hidradenoma MONDO:0002181 exostosis biolink:Disease mondo COHD:72715|NCIT:C3029|UMLS:C1442903|ICD10:M27.8|ICD9:726.91|SCTID:235231000119100|DOID:203|UMLS:C1956089|SCTID:416189003 Non-neoplastic overgrowth of bone. NCIT:C3029|UMLS:C1442903|SNOMEDCT:235231000119100|DOID:203|UMLS:C1956089|SNOMEDCT:416189003 http://purl.obolibrary.org/obo/MONDO_0002181 orbital exostosis|bone spur|bone osteophyte|exostosis|swimmer's exostosis|bony outgrowth|osteophyte MONDO:0002182 communication disorder biolink:Disease mondo COHD:4150614|ICD10:F80.9|ICD9:307.9|SCTID:278919001|MESH:D003147|NCIT:C2958|DOID:2033 A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing. MESH:D003147|NCIT:C2958|SNOMEDCT:278919001|DOID:2033 http://purl.obolibrary.org/obo/MONDO_0002182 communicative disorders gard_rare GO:1901575 organic substance catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/GO_1901575 organic molecular entity breakdown|organic molecular entity catabolism|organic molecular entity catabolic process|organic substance catabolism|organic substance degradation|organic molecular entity degradation|organic substance breakdown MONDO:0002183 enthesopathy biolink:Disease mondo ICD9:726.90|ICD10:M77.9|COHD:73008|SCTID:23680005|UMLS:C0242490|DOID:204|ICD9:726.9 A disorder involving the attachment of a tendon or ligament to a bone SNOMEDCT:23680005|UMLS:C0242490|DOID:204 http://purl.obolibrary.org/obo/MONDO_0002183 disease or disorder of enthesis|disorder of enthesis|disorder of enthesis|disease of enthesis|enthesis disease|enthesis disease or disorder MONDO:0002184 drug-induced hepatitis biolink:Disease mondo SCTID:235889003|EFO:1000905|DOID:2044 Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite. SNOMEDCT:235889003|DOID:2044 http://purl.obolibrary.org/obo/MONDO_0002184 drug-induced chronic hepatitis MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 biolink:Disease mondo UMLS:C3809327|SCTID:763351003|ICD10:G11.1|Orphanet:352403|OMIM:615386|DOID:0080058 Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). SNOMEDCT:763351003|UMLS:C3809327|http://identifiers.org/omim/615386|ORPHA:352403|DOID:0080058 http://purl.obolibrary.org/obo/MONDO_0014159 autosomal recessive cerebellar ataxia caused by mutation in SPTBN2|autosomal recessive cerebellar ataxia-cognitive defect syndrome|SCAR14|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|spinocerebellar ataxia, autosomal recessive 14|spinocerebellar ataxia, autosomal recessive 14; SCAR14|SPARCA1|infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|autosomal recessive spinocerebellar ataxia type 14|spectrin-associated autosomal recessive cerebellar ataxia type 1|SPTBN2 autosomal recessive cerebellar ataxia|spectrin-associated autosomal recessive cerebellar ataxia|SPARCA|spinocerebellar ataxia, autosomal recessive type 14|Ataxie spinocérébelleuse à début infantile avec retard psychomoteur ordo_disease MONDO:0014158 nephronophthisis 16 biolink:Disease mondo OMIM:615382|SCTID:444558002|ICD10:Q61.5|DOID:0111124|UMLS:C3809320 Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. UMLS:C3809320|http://identifiers.org/omim/615382|SNOMEDCT:444558002|DOID:0111124 http://purl.obolibrary.org/obo/MONDO_0014158 nephronophthisis 16; NPHP16|infantile nephronophthisis|nephronophthisis (disease) caused by mutation in ANKS6|nephronophthisis 16|NPHP16|nephronophthisis type 16|autosomal recessive infantile nephronophthisis|ANKS6 nephronophthisis (disease)|autosomal recessive infantile NPHP ordo_clinical_subtype MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome biolink:Disease mondo Orphanet:363649|ICD10:E34.8|OMIM:615381|GARD:0010989|UMLS:C3715192 http://identifiers.org/omim/615381|UMLS:C3715192|ORPHA:363649 http://purl.obolibrary.org/obo/MONDO_0014157 MDPL|mandibular hypoplasia-hearing loss-progeroid syndrome|MDP syndrome|mandibular hypoplasia, deafness, progeroid features|mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome|mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; MDPL ordo_disease MONDO:0002180 obsolete gestational choriocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002180 GO:0060467 negative regulation of fertilization biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/GO_0060467 MONDO:0014152 left ventricular noncompaction 8 biolink:Disease mondo OMIM:615373|UMLS:C3809288 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene. http://identifiers.org/omim/615373|UMLS:C3809288 http://purl.obolibrary.org/obo/MONDO_0014152 LVNC8|left ventricular noncompaction 8; LVNC8|familial isolated dilated cardiomyopathy caused by mutation in PRDM16|left ventricular noncompaction type 8|PRDM16 familial isolated dilated cardiomyopathy|left ventricular noncompaction 8|cardiomyopathy, dilated, 1Ll MONDO:0014151 pulmonary hypertension, neonatal, susceptibility to biolink:Disease mondo OMIM:615371 http://identifiers.org/omim/615371 http://purl.obolibrary.org/obo/MONDO_0014151 pulmonary hypertension, neonatal, susceptibility to|pulmonary hypertension, neonatal, susceptibility to; PHN|PHN|susceptibility to neonatal pulmonary hypertension predisposition MONDO:0014150 childhood onset epileptic encephalopathy biolink:Disease mondo GARD:0013197|OMIM:615369|DOID:0060475|UMLS:C3809278 An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. DOID:0060475|http://identifiers.org/omim/615369|UMLS:C3809278 http://purl.obolibrary.org/obo/MONDO_0014150 CHD2 myoclonic encephalopathy|CHCHD10-related disorders|EEOC|epileptic encephalopathy, childhood-onset|epileptic encephalopathy, childhood-onset; EEOC|childhood-onset epileptic encephalopathy MONDO:0014156 atrial fibrillation, familial, 14 biolink:Disease mondo OMIM:615378|UMLS:C3809312 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene. UMLS:C3809312|http://identifiers.org/omim/615378 http://purl.obolibrary.org/obo/MONDO_0014156 atrial fibrillation, familial, 14|atrial fibrillation, familial, type 14|SCN2B familial atrial fibrillation|atrial fibrillation, familial, 14; ATFB14|ATFB14|familial atrial fibrillation caused by mutation in SCN2B MONDO:0014155 atrial fibrillation, familial, 13 biolink:Disease mondo OMIM:615377|UMLS:C3809311 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene. UMLS:C3809311|http://identifiers.org/omim/615377 http://purl.obolibrary.org/obo/MONDO_0014155 atrial fibrillation, familial, type 13|SCN1B familial atrial fibrillation|atrial fibrillation, familial, 13; ATFB13|ATFB13|familial atrial fibrillation caused by mutation in SCN1B|atrial fibrillation, familial, 13 HGNC:18884 TDP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18884 MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate c biolink:Disease mondo ICD10:G60.0|UMLS:C3809309|Orphanet:369867|OMIM:615376|DOID:0110198 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. UMLS:C3809309|ORPHA:369867|http://identifiers.org/omim/615376|DOID:0110198 http://purl.obolibrary.org/obo/MONDO_0014154 CMTRIC|RI-CMT type C|Charcot-Marie-Tooth disease, recessive intermediate C|Charcot-Marie-Tooth disease recessive intermediate type C|Charcot-Marie-Tooth neuropathy, recessive Intermediate C|Charcot-Marie-Tooth disease, recessive intermediate C; CMTRIC|PLEKHG5 Charcot-Marie-Tooth disease|RI-CMTC|autosomal recessive intermediate Charcot-Marie-Tooth disease type C|Charcot-Marie-Tooth disease, recessive Intermediate type C|Charcot-Marie-Tooth disease caused by mutation in PLEKHG5 ordo_disease MONDO:0014153 cone-rod dystrophy 18 biolink:Disease mondo DOID:0111024|OMIM:615374|UMLS:C3809299 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene. UMLS:C3809299|http://identifiers.org/omim/615374|DOID:0111024 http://purl.obolibrary.org/obo/MONDO_0014153 CORD18|cone-rod dystrophy caused by mutation in RAB28|cone-rod dystrophy 18|cone-rod dystrophy 18; CORD18|cone-rod dystrophy type 18|RAB28 cone-rod dystrophy MONDO:0002156 fallopian tube disease biolink:Disease mondo UMLS:C0015556|NCIT:C26771|DOID:1962|SCTID:128134005|MESH:D005184 A disease involving the fallopian tube. SNOMEDCT:128134005|MESH:D005184|NCIT:C26771|DOID:1962|UMLS:C0015556 http://purl.obolibrary.org/obo/MONDO_0002156 disease of fallopian tube|disease or disorder of fallopian tube|disorder of fallopian tube|fallopian tube disease|fallopian tube disorder|fallopian tube disease or disorder|disorder of fallopian tube MONDO:0002157 obsolete fallopian tube carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002157 MONDO:0002158 fallopian tube cancer biolink:Disease mondo ICD9:183.2|GARD:0009162|MedDRA:10025915|UMLS:C0153579|SCTID:363444001|UMLS:CN200469|Orphanet:180242|DOID:1964|ICD10:C57.0|NCIT:C7480 A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma. ORPHA:180242|UMLS:CN200469|NCIT:C7480|SNOMEDCT:363444001|DOID:1964|UMLS:C0153579|MEDDRA:10025915 http://purl.obolibrary.org/obo/MONDO_0002158 tumor of the fallopian tube|malignant neoplasm of fallopian tube|malignant neoplasm of the fallopian tube|malignant fallopian tube tumor|malignant neoplasm of uterine tube|cancer of fallopian tube|tubal cancer|fallopian tube malignant tumor|malignant tumour of fallopian tube|neoplasm, fallopian tube, malignant|fallopian tube cancer|cancer of fallopian tubes|fallopian tube neoplasm|tumor, fallopian tube, malignant|malignant tumor of fallopian tube|malignant tumor of the fallopian tube|neoplasm of fallopian tube|malignant tumor of fallopian tubes|malignant tubal tumor|malignant fallopian tube neoplasm|fallopian tube malignant neoplasm ordo_disease NCBITaxon:11723 Simian immunodeficiency virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11723 simian immunodeficiency viruses SIV|Chimpanzee immunodeficiency virus (SIV(CPZ))|SIV|Chimpanzee immunodeficiency virus|Simian immunodeficiency virus SIVcpz|simian immunodeficiency virus, SIV|CIV|simian immunodeficiency virus SIV MONDO:0002159 fallopian tube leiomyosarcoma biolink:Disease mondo NCIT:C40128|UMLS:C1517116|DOID:1965 An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells. UMLS:C1517116|DOID:1965|NCIT:C40128 http://purl.obolibrary.org/obo/MONDO_0002159 fallopian tube leiomyosarcoma|leiomyosarcoma of fallopian tube MONDO:0002152 intermittent squint biolink:Disease mondo UMLS:C0152210|ICD9:378.20|ICD9:378.2|DOID:1942|ICD10:H50.30|ICD10:H50.3|SCTID:74025007 SNOMEDCT:74025007|DOID:1942|UMLS:C0152210 http://purl.obolibrary.org/obo/MONDO_0002152 intermittent heterotropia MONDO:0002153 telogen effluvium biolink:Disease mondo NCIT:C112200|ICD9:704.02|COHD:140173|DOID:1943|SCTID:39479004|UMLS:C0263518|ICD10:L65.0 A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress. SNOMEDCT:39479004|UMLS:C0263518|NCIT:C112200|DOID:1943 http://purl.obolibrary.org/obo/MONDO_0002153 MONDO:0002154 trichomoniasis biolink:Disease mondo MESH:D014245|ICD10:A59|UMLS:C0040921|DOID:1947|ICD9:131.8|ICD9:131|SCTID:56335008|ICD9:131.9|ICD10:A59.9|NCIT:C35720 An infection that is caused by Trichomonas. SNOMEDCT:56335008|UMLS:C0040921|DOID:1947|MESH:D014245|NCIT:C35720 http://purl.obolibrary.org/obo/MONDO_0002154 Trichomonas infection|infections, Trichomonas MONDO:0002155 cholecystitis biolink:Disease mondo ICD10:K81.9|SCTID:20824003|COHD:192956|DOID:1949|GARD:0000030|ICD9:575.10|ICD9:575.11|MESH:D002764|NCIT:C34465|ICD10:K81 An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. DOID:1949|SNOMEDCT:20824003|MESH:D002764|NCIT:C34465 http://purl.obolibrary.org/obo/MONDO_0002155 acute and chronic cholecystitis|gall bladder inflammation|acute cholecystitis|acalculous cholecystitis|gallstone cholecystitis|chronic cholecystitis|inflammation of gall bladder|acute on chronic cholecystitis gard_rare GO:0060491 regulation of cell projection assembly biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of cell projection assembly. http://purl.obolibrary.org/obo/GO_0060491 regulation of cell projection formation MONDO:0002150 hypothalamic disease biolink:Disease mondo ICD9:253.9|MESH:D007027|DOID:1931|UMLS:C0020655|SCTID:399100005 Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders. DOID:1931|UMLS:C0020655|SNOMEDCT:399100005|MESH:D007027 http://purl.obolibrary.org/obo/MONDO_0002150 disease or disorder of hypothalamus|disorder of hypothalamus|disorder of hypothalamus|disease of hypothalamus|hypothalamus disease|hypothalamus disease or disorder MONDO:0002151 obsolete dysostosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002151 MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome biolink:Disease mondo ICD10:G71.2|UMLS:C3809272|SCTID:763346009|Orphanet:363409|OMIM:615368 Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. UMLS:C3809272|SNOMEDCT:763346009|http://identifiers.org/omim/615368|ORPHA:363409 http://purl.obolibrary.org/obo/MONDO_0014149 lethal congenital contracture syndrome 5; LCCS5|myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome 5|LCCS5|lethal congenital contracture syndrome type 5 ordo_disease MONDO:0014148 estrogen resistance syndrome biolink:Disease mondo Orphanet:785|OMIM:615363|EFO:0009042|UMLS:C3809250|SCTID:724555000 Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. ORPHA:785|UMLS:C3809250|SNOMEDCT:724555000|http://identifiers.org/omim/615363 http://purl.obolibrary.org/obo/MONDO_0014148 estrogen resistance|estrogen insensitivity|ESTRR|estrogen resistance; ESTRR ordo_disease MONDO:0014147 neuronal ceroid lipofuscinosis 13 biolink:Disease mondo Orphanet:352709|UMLS:C3715049|ICD10:E75.4|DOID:0110727|OMIM:615362 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene. DOID:0110727|http://identifiers.org/omim/615362|UMLS:C3715049|ORPHA:352709 http://purl.obolibrary.org/obo/MONDO_0014147 neuronal ceroid lipofuscinosis 13 Kufs type|CLN13 disease|CTSF neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in CTSF|CLN13|ceroid lipofuscinosis, neuronal, type 13|ceroid lipofuscinosis, neuronal, 13|ceroid lipofuscinosis, neuronal, 13; CLN13|ceroid lipofuscinosis, neuronal, 13, Kufs type|neuronal ceroid lipofuscinosis type 13 ordo_etiological_subtype MONDO:0014146 autosomal dominant hypocalcemia 2 biolink:Disease mondo DOID:0090108|UMLS:C3809243|OMIM:615361 An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. DOID:0090108|UMLS:C3809243|http://identifiers.org/omim/615361 http://purl.obolibrary.org/obo/MONDO_0014146 hypocalcemia, autosomal dominant 2|hypocalcemia, autosomal dominant type 2|autosomal dominant hypocalcemia type 2|HYPOC2|hypocalcemia, autosomal dominant 2; HYPOC2 HGNC:18858 PIGM biolink:OntologyClass mondo http://identifiers.org/hgnc/18858 MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B14 biolink:Disease mondo OMIM:615351|UMLS:C3809221 UMLS:C3809221|http://identifiers.org/omim/615351 http://purl.obolibrary.org/obo/MONDO_0014141 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14|MDDGB14|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14; MDDGB14|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; MDDGB14|muscular dystrophy, congenital, GMPPB-related MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 biolink:Disease mondo UMLS:C3809216|OMIM:615350 UMLS:C3809216|http://identifiers.org/omim/615350 http://purl.obolibrary.org/obo/MONDO_0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; MDDGA14|Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related|MDDGA14|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 MONDO:0014145 Leber congenital amaurosis 17 biolink:Disease mondo DOID:0110217|UMLS:C3715164|OMIM:615360|ICD10:H35.5 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene. DOID:0110217|http://identifiers.org/omim/615360|UMLS:C3715164 http://purl.obolibrary.org/obo/MONDO_0014145 Leber congenital amaurosis type 17|GDF6 Leber congenital amaurosis|LCA17|Leber congenital amaurosis 17|Leber congenital amaurosis caused by mutation in GDF6|Leber congenital amaurosis 17; LCA17 MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type 2S biolink:Disease mondo OMIM:615356|GARD:0012543|DOID:0110287|UMLS:C3809236|Orphanet:369840|ICD10:G71.0 Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. DOID:0110287|UMLS:C3809236|ORPHA:369840|http://identifiers.org/omim/615356 http://purl.obolibrary.org/obo/MONDO_0014144 muscular dystrophy, limb-girdle, type 2S|limb-girdle muscular dystrophy type 2S|LGMD2S|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11|TRAPPC11 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2S; LGMD2S ordo_disease MONDO:0014143 Noonan syndrome 8 biolink:Disease mondo UMLS:C3809233|DOID:0060586|OMIM:615355 Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. UMLS:C3809233|DOID:0060586|http://identifiers.org/omim/615355 http://purl.obolibrary.org/obo/MONDO_0014143 Noonan syndrome 8; NS8|Noonan syndrome type 8|Noonan syndrome caused by mutation in RIT1|Noonan syndrome 8|NS8|RIT1 Noonan syndrome MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T biolink:Disease mondo ICD10:G71.0|GARD:0012544|OMIM:615352|DOID:0110294|Orphanet:363623|ICD10:G71.2|UMLS:C3714932 Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. DOID:0110294|http://identifiers.org/omim/615352|ORPHA:363623|UMLS:C3714932 http://purl.obolibrary.org/obo/MONDO_0014142 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related|muscular dystrophy, limb-girdle, type 2T|muscular dystrophy-dystroglycanopathy (limb-girdle) type C14|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14|LGMD2T|autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB|muscular dystrophy limb-girdle type 2T|GMPPB autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2T|muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; MDDGC14|MDDGC14 ordo_disease MONDO:0002167 rectum malignant melanoma biolink:Disease mondo DOID:1992|NCIT:C4640|SCTID:276822007|UMLS:C0349539 An aggressive malignant melanocytic neoplasm that arises from the rectum. UMLS:C0349539|DOID:1992|NCIT:C4640|SNOMEDCT:276822007 http://purl.obolibrary.org/obo/MONDO_0002167 rectum melanoma (disease)|rectal malignant melanoma|rectal melanoma|melanoma (disease) of rectum|rectum melanoma|malignant melanoma of rectum|malignant melanoma of the rectum|melanoma of the rectum|melanoma of rectum MONDO:0002168 rectum sarcoma biolink:Disease mondo NCIT:C5548|UMLS:C1335688|DOID:1995 A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. NCIT:C5548|DOID:1995|UMLS:C1335688 http://purl.obolibrary.org/obo/MONDO_0002168 sarcoma of the rectum|rectal sarcoma|sarcoma of rectum|rectum sarcoma MONDO:0002169 rectum adenocarcinoma biolink:Disease mondo EFO:0005631|NCIT:C9383|UMLS:C0149978|DOID:1996|SCTID:254582000|ONCOTREE:READ An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. SNOMEDCT:254582000|DOID:1996|UMLS:C0149978|NCIT:C9383 http://purl.obolibrary.org/obo/MONDO_0002169 read|rectal adenocarcinoma|adenocarcinoma of rectum|adenocarcinoma - rectum|rectum adenocarcinoma|adenocarcinoma of the rectum MONDO:0002163 thymus lipoma biolink:Disease mondo UMLS:C1336744|NCIT:C6452|DOID:1975 A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion. NCIT:C6452|UMLS:C1336744|DOID:1975 http://purl.obolibrary.org/obo/MONDO_0002163 Thymolipoma|Thymolipomatous hamartoma|lipoma of thymus|thymus lipoma MONDO:0002164 focal chorioretinitis biolink:Disease mondo ICD9:363.0|ICD10:H30.0|DOID:1979|COHD:437850|ICD9:363.00|UMLS:C0154870|SCTID:15847003|ICD10:H30.00 DOID:1979|UMLS:C0154870|SNOMEDCT:15847003 http://purl.obolibrary.org/obo/MONDO_0002164 MONDO:0002165 rectal neoplasm biolink:Disease mondo MESH:D012004|SCTID:126847008|DOID:1984|UMLS:C0034885|NCIT:C3350 A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. UMLS:C0034885|DOID:1984|SNOMEDCT:126847008|NCIT:C3350|MESH:D012004 http://purl.obolibrary.org/obo/MONDO_0002165 rectal tumor|rectum tumor|tumor of rectum|neoplasm of the rectum|rectum neoplasm|rectal neoplasm|rectum neoplasm (disease)|neoplasm of rectum|tumor of the rectum MONDO:0002166 rectum lymphoma biolink:Disease mondo NCIT:C5553|DOID:1988|UMLS:C1335685 An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas. NCIT:C5553|DOID:1988|UMLS:C1335685 http://purl.obolibrary.org/obo/MONDO_0002166 lymphoma of the rectum|primary rectal lymphoma|rectal lymphoma|rectum lymphoma|lymphoma of rectum MONDO:0002160 obsolete cerebral palsy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002160 MONDO:0002161 obsolete fallopian tube carcinosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002161 MONDO:0002162 fallopian tube adenosarcoma biolink:Disease mondo NCIT:C40125|UMLS:C1517121|DOID:1973 An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component. UMLS:C1517121|DOID:1973|NCIT:C40125 http://purl.obolibrary.org/obo/MONDO_0002162 fallopian tube Mullerian adenosarcoma|adenosarcoma of fallopian tube|fallopian tube adenosarcoma|fallopian tube Müllerian adenosarcoma|fallopian tube mullerian adenosarcoma GO:0060485 mesenchyme development biolink:OntologyClass mondo The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. http://purl.obolibrary.org/obo/GO_0060485 mesenchymal development MONDO:0014138 nemaline myopathy 8 biolink:Disease mondo OMIM:615348|NCIT:C129871|UMLS:C3809209|DOID:0110930 An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles. NCIT:C129871|UMLS:C3809209|DOID:0110930|http://identifiers.org/omim/615348 http://purl.obolibrary.org/obo/MONDO_0014138 nemaline myopathy 8|nemaline myopathy 8, autosomal recessive|KLHL40 nemaline myopathy|nemaline myopathy type 8|nemaline myopathy 8; NEM8|nemaline myopathy caused by mutation in KLHL40|NEM8 MONDO:0014137 precocious puberty, central, 2 biolink:Disease mondo OMIM:615346|UMLS:C3809199 Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene. UMLS:C3809199|http://identifiers.org/omim/615346 http://purl.obolibrary.org/obo/MONDO_0014137 precocious puberty, central, 2|precocious puberty, central, type 2|CPPB2|MKRN3 central precocious puberty|precocious puberty, central, 2; CPPB2|central precocious puberty caused by mutation in MKRN3 MONDO:0014136 pulmonary hypertension, primary, 4 biolink:Disease mondo UMLS:C3809198|OMIM:615344 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. UMLS:C3809198|http://identifiers.org/omim/615344 http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4; PPH4|pulmonary hypertension, primary, type 4|pulmonary hypertension, primary, 4|KCNK3 primary pulmonary hypertension|PPH4|primary pulmonary hypertension caused by mutation in KCNK3 MONDO:0014135 pulmonary hypertension, primary, 3 biolink:Disease mondo OMIM:615343|UMLS:C3809192 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. UMLS:C3809192|http://identifiers.org/omim/615343 http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, type 3|pulmonary hypertension, primary, 3; PPH3|pulmonary hypertension, primary, 3|primary pulmonary hypertension caused by mutation in CAV1|PPH3|CAV1 primary pulmonary hypertension MONDO:0016797 multiple mitochondrial DNA deletion syndrome biolink:Disease mondo Orphanet:254807|UMLS:CN202053 ORPHA:254807|UMLS:CN202053 http://purl.obolibrary.org/obo/MONDO_0016797 multiple mtDNA deletion syndrome ordo_group_of_disorders MONDO:0016798 ataxia neuropathy spectrum biolink:Disease mondo Orphanet:254818|UMLS:C3683791 ORPHA:254818|UMLS:C3683791 http://purl.obolibrary.org/obo/MONDO_0016798 ordo_group_of_disorders HGNC:16205 MGME1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16205 MONDO:0016799 mitochondrial oxidative phosphorylation disorder with no known mechanism biolink:Disease mondo UMLS:CN202054|Orphanet:254822 ORPHA:254822|UMLS:CN202054 http://purl.obolibrary.org/obo/MONDO_0016799 OXPHOS disease with no known mechanism ordo_group_of_disorders MONDO:0014139 Ehlers-Danlos syndrome, progeroid type, 2 biolink:Disease mondo OMIM:615349|UMLS:C3809210 Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene. UMLS:C3809210|http://identifiers.org/omim/615349 http://purl.obolibrary.org/obo/MONDO_0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2; EDSSPD2|Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6|EDSP2|Ehlers-Danlos syndrome, progeroid type, 2, formerly|EDSSPD2|Ehlers-Danlos syndrome, progeroid type, 2|Ehlers-Danlos syndrome, progeroid type, 2; EDSP2|Ehlers-Danlos syndrome, spondylodysplastic type, 2|B3GALT6 Ehlers-Danlos syndrome progeroid type MONDO:0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA biolink:Disease mondo UMLS:CN202050|Orphanet:254776 ORPHA:254776|UMLS:CN202050 http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA|OXPHOS disease due to a point mutation of mitochondrial DNA|OXPHOS disease due to a point mutation of mtDNA ordo_group_of_disorders MONDO:0014130 Dowling-Degos disease 2 biolink:Disease mondo UMLS:C3809147|OMIM:615327 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene. UMLS:C3809147|http://identifiers.org/omim/615327 http://purl.obolibrary.org/obo/MONDO_0014130 Dowling-Degos disease caused by mutation in POFUT1|Dowling-Degos disease 2; DDD2|DDD2|Dowling-Degos disease 2|POFUT1 Dowling-Degos disease|Dowling-Degos disease type 2 HGNC:18865 KCNT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18865 MONDO:0016794 maternally-inherited mitochondrial myopathy biolink:Disease mondo ICD10:G71.3|Orphanet:254788 ORPHA:254788 http://purl.obolibrary.org/obo/MONDO_0016794 ordo_group_of_disorders MONDO:0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA biolink:Disease mondo Orphanet:254793|UMLS:CN202051 ORPHA:254793|UMLS:CN202051 http://purl.obolibrary.org/obo/MONDO_0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA|OXPHOS disease due to a duplication of mitochondrial DNA|OXPHOS disease due to a duplication of mtDNA ordo_group_of_disorders MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form biolink:Disease mondo UMLS:CN230130|UMLS:CN202052|Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. ORPHA:254803|UMLS:CN202052|UMLS:CN230130 http://purl.obolibrary.org/obo/MONDO_0016796 mtDNA depletion syndrome, encephalomyopathic form ordo_group_of_disorders MONDO:0014134 pulmonary hypertension, primary, 2 biolink:Disease mondo UMLS:C3888002|OMIM:615342 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. http://identifiers.org/omim/615342|UMLS:C3888002 http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, type 2|SMAD9 primary pulmonary hypertension|pulmonary hypertension, primary, 2|pulmonary hypertension, primary, 2; PPH2|PPH2|primary pulmonary hypertension caused by mutation in SMAD9 MONDO:0014133 developmental and epileptic encephalopathy, 16 biolink:Disease mondo OMIM:615338|UMLS:C3809173 UMLS:C3809173|http://identifiers.org/omim/615338 http://purl.obolibrary.org/obo/MONDO_0014133 epileptic encephalopathy, early infantile, 16; EIEE16|epileptic encephalopathy, early infantile, 16|epileptic encephalopathy, early infantile, type 16|DEE16|EIEE16 MONDO:0016790 tricarboxylic acid cycle disorder biolink:Disease mondo UMLS:CN227000|Orphanet:254749|ICD10:E88.8 An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle. UMLS:CN227000|ORPHA:254749 http://purl.obolibrary.org/obo/MONDO_0016790 TCA cycle disorder|inborn tricarboxylic acid cycle disorder|inborn error of tricarboxylic acid cycle|rare inborn error of tricarboxylic acid cycle|rare inborn error of tricarboxylic acid cycle|Krebs cycle disorder|citric acid cycle disorder ordo_group_of_disorders MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 biolink:Disease mondo ICD10:G31.8|Orphanet:363424|OMIM:615330|UMLS:C3809165|DOID:0080135 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene. UMLS:C3809165|http://identifiers.org/omim/615330|DOID:0080135|ORPHA:363424 http://purl.obolibrary.org/obo/MONDO_0014132 multiple mitochondrial dysfunctions syndrome 3|IBA57 fatal multiple mitochondrial dysfunctions syndrome|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57|multiple mitochondrial dysfunctions syndrome type 3|multiple mitochondrial dysfunctions syndrome 3; MMDS3|IBA57 deficiency|MMDS3 ordo_disease MONDO:0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies biolink:Disease mondo Orphanet:254758|UMLS:CN202048 UMLS:CN202048|ORPHA:254758 http://purl.obolibrary.org/obo/MONDO_0016791 OXPHOS disease due to mtDNA anomalies|mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies|OXPHOS disease due to mitochondrial DNA anomalies ordo_group_of_disorders MONDO:0016792 mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA biolink:Disease mondo Orphanet:254767|UMLS:CN202049 ORPHA:254767|UMLS:CN202049 http://purl.obolibrary.org/obo/MONDO_0016792 OXPHOS disease due to a large-scale single deletion of mitochondrial DNA|OXPHOS disease due to a large-scale single deletion of mtDNA|mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA ordo_group_of_disorders MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome biolink:Disease mondo Orphanet:363523|OMIM:615328|UMLS:C3809160|ICD10:Q82.8 UMLS:C3809160|http://identifiers.org/omim/615328|ORPHA:363523 http://purl.obolibrary.org/obo/MONDO_0014131 SHAHEEN syndrome|SHAHEEN syndrome; SHNS|SHNS ordo_disease HGNC:18831 CTHRC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18831 GO:0035461 vitamin transmembrane transport biolink:OntologyClass mondo The process in which a vitamin is transported across a membrane. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/GO_0035461 vitamin membrane transport MONDO:0014192 primary ciliary dyskinesia 22 biolink:Disease mondo UMLS:C3809543|ICD10:Q34.8|OMIM:615444|DOID:0110597 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene. DOID:0110597|UMLS:C3809543|http://identifiers.org/omim/615444 http://purl.obolibrary.org/obo/MONDO_0014192 ciliary dyskinesia, primary, 22|primary ciliary dyskinesia caused by mutation in ZMYND10|ZMYND10 primary ciliary dyskinesia|ciliary dyskinesia, primary, 22, with or without situs inversus|ciliary dyskinesia, primary, 22; CILD22|ciliary dyskinesia, primary, type 22|CILD22|primary ciliary dyskinesia type 22|primary ciliary dyskinesia 22 with or without situs inversus MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 biolink:Disease mondo DOID:0060679|OMIM:615441|UMLS:C3809536|ICD10:I47.2 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene. UMLS:C3809536|DOID:0060679|http://identifiers.org/omim/615441 http://purl.obolibrary.org/obo/MONDO_0014191 catecholaminergic polymorphic ventricular tachycardia type 5|CVPT5|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness; CPVT5|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness|CPVT5|TRDN catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN MONDO:0014190 combined oxidative phosphorylation defect type 17 biolink:Disease mondo Orphanet:369913|ICD10:E88.8|OMIM:615440|UMLS:C3809526 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene. UMLS:C3809526|ORPHA:369913|http://identifiers.org/omim/615440 http://purl.obolibrary.org/obo/MONDO_0014190 combined oxidative phosphorylation deficiency 17; COXPD17|COXPD17|ELAC2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 17|combined oxidative phosphorylation deficiency caused by mutation in ELAC2|combined oxidative phosphorylation deficiency 17 ordo_disease|clingen MONDO:0041751 multibacillary leprosy biolink:Disease mondo SCTID:416257001 A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response. SNOMEDCT:416257001 http://purl.obolibrary.org/obo/MONDO_0041751 lepromatous leprosy|multibacillary leprosy MONDO:0041752 paucibacillary leprosy biolink:Disease mondo SCTID:416483009 A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response. SNOMEDCT:416483009 http://purl.obolibrary.org/obo/MONDO_0041752 paucibacillary leprosy|tuberculoid leprosy MONDO:0014196 Hartsfield-Bixler-Demyer syndrome biolink:Disease mondo UMLS:C1845146|Orphanet:2117|OMIM:615465|SCTID:766032007|MESH:C564484|ICD10:Q87.8 UMLS:C1845146|ORPHA:2117|MESH:C564484|SNOMEDCT:766032007|http://identifiers.org/omim/615465 http://purl.obolibrary.org/obo/MONDO_0014196 holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate|HARTSFIELD syndrome|HRTFDS|holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly-ectrodactyly-cleft lip palate syndrome|HARTSFIELD syndrome; HRTFDS ordo_malformation_syndrome MONDO:0014195 microcornea-myopic chorioretinal atrophy-telecanthus syndrome biolink:Disease mondo OMIM:615458|Orphanet:369970|UMLS:C3809567|ICD10:Q15.8 ORPHA:369970|UMLS:C3809567|http://identifiers.org/omim/615458 http://purl.obolibrary.org/obo/MONDO_0014195 microcornea, myopic chorioretinal atrophy, and telecanthus; MMCAT|MMCAT syndrome|MMCAT|microcornea, myopic chorioretinal atrophy, and telecanthus ordo_disease MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 biolink:Disease mondo DOID:0080115|UMLS:C3809553|OMIM:615453 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene. DOID:0080115|UMLS:C3809553|http://identifiers.org/omim/615453 http://purl.obolibrary.org/obo/MONDO_0014194 mitochondrial complex III deficiency, nuclear type 6; MC3DN6|MC3DN6|CYC1 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 6|mitochondrial complex III deficiency caused by mutation in CYC1|mitochondrial Complex 3 deficiency, nuclear type 6 MONDO:0014193 primary ciliary dyskinesia 23 biolink:Disease mondo DOID:0110609|OMIM:615451|ICD10:Q34.8|UMLS:C3809548 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene. UMLS:C3809548|DOID:0110609|http://identifiers.org/omim/615451 http://purl.obolibrary.org/obo/MONDO_0014193 CILD23|ciliary dyskinesia, primary, 23, with or without situs inversus|primary ciliary dyskinesia type 23|ciliary dyskinesia, primary, 23; CILD23|ARMC4 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 23|primary ciliary dyskinesia 23 with or without situs inversus|ciliary dyskinesia, primary, 23|primary ciliary dyskinesia caused by mutation in ARMC4 MONDO:0014199 developmental and epileptic encephalopathy, 17 biolink:Disease mondo OMIM:615473|UMLS:C3809606|GARD:0013378 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene. http://identifiers.org/omim/615473|UMLS:C3809606 http://purl.obolibrary.org/obo/MONDO_0014199 epileptic encephalopathy, early infantile, 17|epileptic encephalopathy, early infantile, type 17|early infantile epileptic encephalopathy caused by mutation in GNAO1|DEE17|early infantile epileptic encephalopathy-17|GNAO1 encephalopathy|GNAO1 early infantile epileptic encephalopathy|EIEE17|epileptic encephalopathy, early infantile, 17; EIEE17 MONDO:0014198 mitochondrial DNA depletion syndrome 13 biolink:Disease mondo SCTID:765403009|GARD:0013298|ICD10:E88.8|UMLS:C3809592|Orphanet:369897|DOID:0080131|OMIM:615471 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene. SNOMEDCT:765403009|DOID:0080131|ORPHA:369897|UMLS:C3809592|http://identifiers.org/omim/615471 http://purl.obolibrary.org/obo/MONDO_0014198 mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|mitochondrial DNA depletion syndrome 13 (encephalomyopathic type); MTDPS13|mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)|FBXL4 deficiency|FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome caused by mutation in FBXL4|MTDPS13|BXL4-related early-onset mitochondrial encephalopathy|mitochondrial DNA depletion syndrome type 13|mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|FBXL4 mitochondrial DNA depletion syndrome|encephalomyopathic mitochondrial DNA depletion syndrome-13 ordo_disease MONDO:0014197 combined immunodeficiency due to MALT1 deficiency biolink:Disease mondo ICD10:D81.8|OMIM:615468|Orphanet:397964|UMLS:C3809583 Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. UMLS:C3809583|ORPHA:397964|http://identifiers.org/omim/615468 http://purl.obolibrary.org/obo/MONDO_0014197 IMD12|immunodeficiency type 12|immunodeficiency 12|immunodeficiency 12; IMD12 ordo_disease MONDO:0014181 amyotrophic lateral sclerosis type 20 biolink:Disease mondo OMIM:615426|UMLS:C3715156|DOID:0060211 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene. DOID:0060211|http://identifiers.org/omim/615426|UMLS:C3715156 http://purl.obolibrary.org/obo/MONDO_0014181 amyotrophic lateral sclerosis caused by mutation in HNRNPA1|amyotrophic lateral sclerosis type 20|amyotrophic lateral sclerosis 20|ALS20|HNRNPA1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 20; ALS20 MONDO:0014180 epidermolysis bullosa simplex due to BP230 deficiency biolink:Disease mondo OMIM:615425|Orphanet:412181|ICD10:Q81.0|UMLS:C3809470 ORPHA:412181|UMLS:C3809470|http://identifiers.org/omim/615425 http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex, autosomal recessive 2|EBS-AR BP230|EBSB2|epidermolysis bullosa simplex, autosomal recessive type 2|DST-related epidermolysis bullosa simplex|epidermolysis bullosa simplex, autosomal recessive 2; EBSB2 ordo_disease MONDO:0002196 perinatal intestinal perforation biolink:Disease mondo DOID:2073|COHD:199925|UMLS:C0159006|SCTID:65390006|ICD9:777.6|ICD10:P78.0 UMLS:C0159006|SNOMEDCT:65390006|DOID:2073 http://purl.obolibrary.org/obo/MONDO_0002196 MONDO:0002197 minor vestibular glands adenoma biolink:Disease mondo UMLS:C1510791|NCIT:C40301|DOID:2075 A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present. NCIT:C40301|DOID:2075|UMLS:C1510791 http://purl.obolibrary.org/obo/MONDO_0002197 minor vestibular gland adenoma|adenoma of minor vestibular glands MONDO:0002198 vulvar glandular neoplasm biolink:Disease mondo UMLS:C1520082|NCIT:C40292|DOID:2076 A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma. UMLS:C1520082|NCIT:C40292|DOID:2076 http://purl.obolibrary.org/obo/MONDO_0002198 mammalian vulva glandular cell neoplasm|vulvar glandular tumor|vulvar glandular neoplasm MONDO:0002199 benign mixed tumor of the vulva biolink:Disease mondo UMLS:C1511091|DOID:2078|NCIT:C40302 A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended. NCIT:C40302|UMLS:C1511091|DOID:2078 http://purl.obolibrary.org/obo/MONDO_0002199 benign mixed tumor of the vulva|chondroid syringoma of the vulva MONDO:0002192 vulvar angiokeratoma biolink:Disease mondo SCTID:402841001|UMLS:C1274281|NCIT:C8596|DOID:2066 An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis. NCIT:C8596|DOID:2066|SNOMEDCT:402841001|UMLS:C1274281 http://purl.obolibrary.org/obo/MONDO_0002192 mammalian vulva angiokeratoma of Fordyce|angiokeratoma of Fordyce of mammalian vulva|angiokeratoma of mammalian vulva|mammalian vulva angiokeratoma MONDO:0002193 Bartholin gland benign neoplasm biolink:Disease mondo SCTID:189130001|DOID:2068 A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. DOID:2068|SNOMEDCT:189130001 http://purl.obolibrary.org/obo/MONDO_0002193 major vestibular gland benign neoplasm|Bartholin gland neoplasm|tumor of Bartholin's gland MONDO:0002194 vestibular papilloma biolink:Disease mondo UMLS:C1336982|DOID:2071|NCIT:C6376 A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia. UMLS:C1336982|DOID:2071|NCIT:C6376 http://purl.obolibrary.org/obo/MONDO_0002194 mammalian vulva squamous papilloma|vestibular papilloma|vulvar squamous papilloma MONDO:0002195 vulvar squamous neoplasm biolink:Disease mondo DOID:2072|NCIT:C40283|UMLS:C1520097 A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma. UMLS:C1520097|NCIT:C40283|DOID:2072 http://purl.obolibrary.org/obo/MONDO_0002195 mammalian vulva squamous cell neoplasm|vulvar squamous neoplasm|vulvar squamous tumor GO:0035441 cell migration involved in vasculogenesis biolink:OntologyClass mondo The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes. http://purl.obolibrary.org/obo/GO_0035441 MONDO:0002190 vulvar syringoma biolink:Disease mondo NCIT:C40311|DOID:2064|UMLS:C1520099 A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis. NCIT:C40311|DOID:2064|UMLS:C1520099 http://purl.obolibrary.org/obo/MONDO_0002190 mammalian vulva syringoma|vulvar syringoma|syringoma of mammalian vulva MONDO:0002191 syringoma biolink:Disease mondo GARD:0010547|ICDO:8407/0|DOID:2065|UMLS:C0206673|NCIT:C3761|MESH:D018252|SCTID:302828001 A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis. NCIT:C3761|UMLS:C0206673|DOID:2065|MESH:D018252|SNOMEDCT:302828001 http://purl.obolibrary.org/obo/MONDO_0002191 eccrine syringoma|syringoma HGNC:18817 HPS6 biolink:OntologyClass mondo http://identifiers.org/hgnc/18817 MONDO:0041755 twin reversal arterial perfusion syndrome biolink:Disease mondo SCTID:417006004|UMLS:C1562817 UMLS:C1562817|SNOMEDCT:417006004 http://purl.obolibrary.org/obo/MONDO_0041755 twin reversal arterial perfusion syndrome MONDO:0014185 chromosome 3q13.31 deletion syndrome biolink:Disease mondo MESH:C536808|DOID:0060418|SCTID:726705007|ICD10:Q93.5|UMLS:CN036884|OMIM:615433|UMLS:C3809490|Orphanet:1621 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. http://identifiers.org/omim/615433|UMLS:CN036884|SNOMEDCT:726705007|ORPHA:1621|MESH:C536808|UMLS:C3809490|DOID:0060418|UMLS:C2931338 http://purl.obolibrary.org/obo/MONDO_0014185 chromosome 3q13.31 deletion syndrome|monosomy 3q13|Del(3)(q13)|3q13 microdeletion syndrome ordo_malformation_syndrome HGNC:18810 CATSPER2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18810 MONDO:0014184 specific language impairment 5 biolink:Disease mondo OMIM:615432|UMLS:C3809483 A communication disorder that involves the processing of linguistic information. UMLS:C3809483|http://identifiers.org/omim/615432 http://purl.obolibrary.org/obo/MONDO_0014184 specific language impairment 5|specific language impairment 5; SLI5|specific language impairment type 5|SLI5 MONDO:0014183 myopia 23, autosomal recessive biolink:Disease mondo UMLS:C3809482|OMIM:615431 UMLS:C3809482|http://identifiers.org/omim/615431 http://purl.obolibrary.org/obo/MONDO_0014183 MYP23|myopia 23, autosomal recessive; MYP23|myopia 23, autosomal recessive MONDO:0014182 autosomal recessive nonsyndromic deafness 88 biolink:Disease mondo ICD10:H90.3|OMIM:615429|DOID:0110533|UMLS:C2829267 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene. UMLS:C2829267|DOID:0110533|http://identifiers.org/omim/615429 http://purl.obolibrary.org/obo/MONDO_0014182 autosomal recessive deafness 88|autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3|autosomal recessive nonsyndromic deafness type 88|deafness, autosomal recessive type 88|deafness, autosomal recessive 88; DFNB88|ELMOD3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 88|DFNB88 MONDO:0014189 age related macular degeneration 13 biolink:Disease mondo DOID:0110025|OMIM:615439|UMLS:C3809523 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene. http://identifiers.org/omim/615439|DOID:0110025|UMLS:C3809523 http://purl.obolibrary.org/obo/MONDO_0014189 age-related macular degeneration caused by mutation in CFI|macular degeneration, age-related, 13; ARMD13|age related macular degeneration type 13|ARMD13|macular degeneration, age-related, 13|CFI age-related macular degeneration|macular Degeneration, age-related, type 13 MONDO:0014188 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0014188 MONDO:0014187 aortic aneurysm, familial thoracic 8 biolink:Disease mondo UMLS:C3809513|OMIM:615436 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene. http://identifiers.org/omim/615436|UMLS:C3809513 http://purl.obolibrary.org/obo/MONDO_0014187 familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1|aortic aneurysm, familial thoracic type 8|aortic aneurysm, familial thoracic 8; AAT8|aortic aneurysm, familial thoracic 8|PRKG1 familial thoracic aortic aneurysm and aortic dissection|AAT8 MONDO:0014186 retinitis pigmentosa with or without situs inversus biolink:Disease mondo ICD10:H35.5|OMIM:615434|UMLS:C3809503|DOID:0110419 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene. http://identifiers.org/omim/615434|DOID:0110419|UMLS:C3809503 http://purl.obolibrary.org/obo/MONDO_0014186 retinitis pigmentosa caused by mutation in ARL2BP|ARL2BP retinitis pigmentosa|retinitis pigmentosa with or without situs inversus MONDO:0014170 complex cortical dysplasia with other brain malformations 3 biolink:Disease mondo UMLS:C3809414|OMIM:615411|DOID:0090134 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene. DOID:0090134|UMLS:C3809414|http://identifiers.org/omim/615411 http://purl.obolibrary.org/obo/MONDO_0014170 cortical dysplasia, complex, with other brain malformations 3|complex cortical dysplasia with other brain malformations type 3|KIF2A complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 3|complex cortical dysplasia with other brain malformations caused by mutation in KIF2A|CDCBM3|cortical dysplasia, complex, with other brain malformations 3; CDCBM3 HGNC:18829 KLHL10 biolink:OntologyClass mondo http://identifiers.org/hgnc/18829 MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 biolink:Disease mondo UMLS:C3809469|OMIM:615424 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene. http://identifiers.org/omim/615424|UMLS:C3809469 http://purl.obolibrary.org/obo/MONDO_0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; IBMPFD3|IBMPFD3|HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|multisystem Proteinopathy 3 HGNC:18828 NDUFAF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18828 MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 biolink:Disease mondo OMIM:615415|UMLS:C3809434 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. http://identifiers.org/omim/615415|UMLS:C3809434 http://purl.obolibrary.org/obo/MONDO_0014174 NEK8 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia 2|RHPD2|renal-hepatic-pancreatic dysplasia caused by mutation in NEK8|renal-hepatic-pancreatic dysplasia type 2|renal-hepatic-pancreatic dysplasia 2; RHPD2 HGNC:18821 LIPI biolink:OntologyClass mondo http://identifiers.org/hgnc/18821 MONDO:0014173 microcephaly 11, primary, autosomal recessive biolink:Disease mondo OMIM:615414|DOID:0070287|UMLS:C3809431 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene. http://identifiers.org/omim/615414|DOID:0070287|UMLS:C3809431 http://purl.obolibrary.org/obo/MONDO_0014173 microcephaly 11, primary, autosomal recessive; MCPH11|microcephaly 11, primary, autosomal recessive|MCPH11|PHC1 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in PHC1 MONDO:0014172 spermatogenic failure 12 biolink:Disease mondo DOID:0070171|UMLS:C3809427|OMIM:615413 Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene. http://identifiers.org/omim/615413|DOID:0070171|UMLS:C3809427 http://purl.obolibrary.org/obo/MONDO_0014172 azoospermia caused by mutation in NANOS1|spermatogenic failure type 12|SPGF12|spermatogenic failure 12; SPGF12|NANOS1 azoospermia|spermatogenic failure 12 MONDO:0014171 complex cortical dysplasia with other brain malformations 4 biolink:Disease mondo OMIM:615412|DOID:0090138|UMLS:C3809420 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene. http://identifiers.org/omim/615412|DOID:0090138|UMLS:C3809420 http://purl.obolibrary.org/obo/MONDO_0014171 cortical dysplasia, complex, with other brain malformations 4|TUBG1 complex cortical dysplasia with other brain malformations|CDCBM4|complex cortical dysplasia with other brain malformations caused by mutation in TUBG1|cortical dysplasia, Complex, with Other brain malformations type 4|complex cortical dysplasia with other brain malformations type 4|cortical dysplasia, complex, with other brain malformations 4; CDCBM4 MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 biolink:Disease mondo UMLS:C3809468|OMIM:615422 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene. http://identifiers.org/omim/615422|UMLS:C3809468 http://purl.obolibrary.org/obo/MONDO_0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2; IBMPFD2|HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|multisystem Proteinopathy 2|IBMPFD2 MONDO:0014177 myopia 22, autosomal dominant biolink:Disease mondo OMIM:615420|UMLS:C3809464 http://identifiers.org/omim/615420|UMLS:C3809464 http://purl.obolibrary.org/obo/MONDO_0014177 myopia 22, autosomal dominant; MYP22|MYP22|myopia 22, autosomal dominant MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies biolink:Disease mondo OMIMPS:615419|DC:0000718 http://purl.obolibrary.org/obo/MONDO_0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies|IHPRF prototype_pattern MONDO:0014175 mitochondrial DNA depletion syndrome 12 biolink:Disease mondo UMLS:C4321247|NCIT:C129977|DOID:0080335|OMIM:615418|DOID:0080130 An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy. http://identifiers.org/omim/615418|DOID:0080130|DOID:0080335|UMLS:C4321247|NCIT:C129977 http://purl.obolibrary.org/obo/MONDO_0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive; MTDPS12B|mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|MTDPS12B|mitochondrial DNA depletion syndrome type 12|MTDPS12|mitochondrial DNA depletion syndrome 12 (cardiomyopathic type); MTDPS12 MONDO:0004757 chronic ethmoidal sinusitis biolink:Disease mondo DOID:9312|ICD10:J32.2|COHD:132932|SCTID:73237007|ICD9:473.2|NCIT:C34472|UMLS:C0008681 Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. DOID:9312|SNOMEDCT:73237007|NCIT:C34472|UMLS:C0008681 http://purl.obolibrary.org/obo/MONDO_0004757 chronic ethmoid sinusitis|chronic ethmoidal sinusitis|ethmoid sinusitis, chronic|ethmoidal sinusitis - chronic|chronic ethmoiditis MONDO:0004756 nasal cavity neoplasm biolink:Disease mondo DOID:9310|SCTID:126670003|NCIT:C4413|UMLS:C0345630 A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. DOID:9310|NCIT:C4413|SNOMEDCT:126670003|UMLS:C0345630 http://purl.obolibrary.org/obo/MONDO_0004756 nasal cavity tumor|nasal cavity neoplasm (disease)|tumor of nasal cavity|nasal cavity neoplasm|neoplasm of the nasal cavity|tumor of the nasal cavity|neoplasm of nasal cavity NCBITaxon:35793 Rickettsia sibirica organism taxon mondo PMID:17114787|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_35793 CHEBI:48730 aluminosilicate mineral biolink:ChemicalSubstance mondo Silicate minerals that contain aluminium, silicon, and oxygen, together with other ions. They are a major component of clay minerals. http://purl.obolibrary.org/obo/CHEBI_48730 Alumosilikat|aluminosilicates|Alumosilikate|aluminosilicato MONDO:0004759 bestiality biolink:Disease mondo DOID:9336|ICD9:302.1|SCTID:81463002|COHD:438999 DOID:9336|SNOMEDCT:81463002 http://purl.obolibrary.org/obo/MONDO_0004759 zoophilia NCBITaxon:35792 Rickettsia parkeri organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_35792 MONDO:0004758 scotoma (disease) biolink:Disease mondo HP:0000575|ICD10:H53.43|DOID:9335|ICD10:H53.42|ICD9:368.45|ICD9:368.44|ICD9:368.43|ICD9:368.42|MESH:D012607|ICD10:H53.45 A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions. DOID:9335|MESH:D012607 http://purl.obolibrary.org/obo/MONDO_0004758 enlarged angioscotoma|scotoma|enlarged paracaecal scotoma|generalized visual field contraction or constriction|sector or arcuate visual field defects|blind spot area scotoma|scotoma of blind spot area|enlarged blind spot NCBITaxon:35790 Rickettsia japonica organism taxon mondo PMID:1581190|GC_ID:11|PMID:2516664 http://purl.obolibrary.org/obo/NCBITaxon_35790 MONDO:0004753 mechanical strabismus biolink:Disease mondo ICD10:H50.6|ICD10:H50.60|ICD9:378.60|ICD9:378.6|DOID:9306|COHD:378157|SCTID:5371001|UMLS:C0152223 SNOMEDCT:5371001|UMLS:C0152223|DOID:9306 http://purl.obolibrary.org/obo/MONDO_0004753 MONDO:0004752 neurofibroma of the heart biolink:Disease mondo DOID:9300|NCIT:C5359|UMLS:C1096349 A rare neurofibroma that affects the heart. UMLS:C1096349|NCIT:C5359|DOID:9300 http://purl.obolibrary.org/obo/MONDO_0004752 neurofibroma of heart|Cardiac neurofibroma|neurofibroma of the heart|heart neurofibroma MONDO:0004755 monieziasis biolink:Disease mondo UMLS:C0026414|MESH:D008989|DOID:931|EFO:1001372 Infection of ruminants with tapeworms of the genus Moniezia. UMLS:C0026414|DOID:931|MESH:D008989 http://purl.obolibrary.org/obo/MONDO_0004755 MONDO:0004754 rectal prolapse (disease) biolink:Disease mondo HP:0002035|UMLS:C0034888|DOID:9307|ICD9:569.1|NCIT:C34973|ICD10:K62.3 Protrusion of the rectum through the anus. UMLS:C0034888|NCIT:C34973|DOID:9307 http://purl.obolibrary.org/obo/MONDO_0004754 procidentia, rectum|rectal prolapse MONDO:0004751 disease of orbital part of eye adnexa biolink:Disease mondo MESH:D009916|ICD10:H05.9|UMLS:C0029182|ICD9:376|ICD9:376.9|ICD10:H05|DOID:930 Diseases of the bony orbit and contents except the eyeball. MESH:D009916|DOID:930|UMLS:C0029182 http://purl.obolibrary.org/obo/MONDO_0004751 orbital disease MONDO:0004750 language disorder biolink:Disease mondo HP:0002463|MESH:D007806|NCIT:C97155|EFO:0005425|ICD10:F80.9|DOID:93 A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. DOID:93|MESH:D007806|NCIT:C97155 http://purl.obolibrary.org/obo/MONDO_0004750 MONDO:0016739 yolk sac tumor of central nervous system biolink:Disease mondo NCIT:C7011|UMLS:CN201987|Orphanet:252006 A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO) UMLS:CN201987|NCIT:C7011|ORPHA:252006 http://purl.obolibrary.org/obo/MONDO_0016739 yolk Sac tumor of central nervous system|yolk Sac tumor of the central nervous system|endodermal sinus tumor of central nervous system|endodermal sinus tumor of CNS|intracranial yolk sac tumor|yolk Sac tumor of the CNS|yolk Sac tumor of CNS|central nervous system yolk Sac tumor|CNS yolk Sac tumor|intracranial endodermal sinus tumor|yolk sac tumor of CNS ordo_clinical_subtype CHEBI:83057 Daphnia metabolite biolink:ChemicalSubstance mondo A crustacean metabolite produced by the genus of small planktonic arthropods, Daphnia http://purl.obolibrary.org/obo/CHEBI_83057 Daphnia metabolites MONDO:0016746 meningeal melanocytoma biolink:Disease mondo NCIT:C4662|ICDO:8728/1|DOID:5900|SCTID:277527003|Orphanet:252046|UMLS:C1266113|EFO:1000370 A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative. NCIT:C4662|UMLS:C1266113|SNOMEDCT:277527003|DOID:5900|ORPHA:252046 http://purl.obolibrary.org/obo/MONDO_0016746 meninges melanocytoma|melanocytoma of meninges|melanocytoma of the meninges|leptomeningeal melanocytoma ordo_disease MONDO:0016747 primary melanoma of the central nervous system biolink:Disease mondo Orphanet:252050|NCIT:C5505|UMLS:C0349626|UMLS:CN201994|GARD:0012016|ONCOTREE:PCNSM A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor. NCIT:C5505|UMLS:CN201994|ORPHA:252050|UMLS:C0349626 http://purl.obolibrary.org/obo/MONDO_0016747 central nervous system melanoma|malignant melanoma of meninges|melanoma (disease) of central nervous system|primary melanoma of the CNS|melanoma of central nervous system|melanoma of the Central nervous system|central nervous system melanoma (disease)|primary meningeal melanoma|melanoma of the CNS|melanoma of CNS|primary CNS melanoma|Central nervous system melanoma|CNS melanoma ordo_disease|gard_rare CHEBI:83056 Daphnia magna metabolite biolink:ChemicalSubstance mondo A Daphnia metabolite produced by the species Daphnia magna. http://purl.obolibrary.org/obo/CHEBI_83056 Daphnia magna metabolites MONDO:0016748 hemangioblastoma biolink:Disease mondo ONCOTREE:HMBL|GARD:0008232|DOID:5241|ICD10:D33.4|ICD10:D33.7|MedDRA:10018813|NCIT:C3801|MESH:D018325|Orphanet:252054|ICDO:9161/1|UMLS:C0206734 Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. NCIT:C3801|DOID:5241|MEDDRA:10018813|UMLS:C0206734|ORPHA:252054|MESH:D018325 http://purl.obolibrary.org/obo/MONDO_0016748 HMBL|capillary hemangioblastoma|angioblastoma|hemangioblastoma ordo_disease UBERON:0001394 axillary artery biolink:AnatomicalEntity mondo Artery that supplies the axilla http://purl.obolibrary.org/obo/UBERON_0001394 axillary part of subclavian artery|axillary part of trunk of subclavian artery|arteria axillaris MONDO:0016749 tumor of cranial and spinal nerves biolink:Disease mondo UMLS:CN201996|Orphanet:252057|GARD:0012697 UMLS:CN201996|ORPHA:252057 http://purl.obolibrary.org/obo/MONDO_0016749 rare tumor of cranial and spinal nerves gard_rare|ordo_group_of_disorders MONDO:0016742 mixed germ cell tumor of central nervous system biolink:Disease mondo UMLS:CN201989|NCIT:C7016|Orphanet:252021|UMLS:C1334785 A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia. UMLS:C1334785|UMLS:CN201989|NCIT:C7016|ORPHA:252021 http://purl.obolibrary.org/obo/MONDO_0016742 mixed germ cell tumor of the CNS|CNS mixed germ cell tumor|mixed germ cell tumor of the central nervous system|central nervous system mixed germ cell tumor|mixed germ cell neoplasm of the central nervous system|mixed germ cell tumor of CNS ordo_clinical_subtype MONDO:0016743 tumor of meninges biolink:Disease mondo SCTID:126965008|MedDRA:10061282|ICD9:239.7|Orphanet:252025|UMLS:C0025284|NCIT:C3229|ONCOTREE:MNGT A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions. NCIT:C3229|SNOMEDCT:126965008|UMLS:C0025284|ORPHA:252025|MEDDRA:10061282 http://purl.obolibrary.org/obo/MONDO_0016743 tumor of meningeal cluster|meningeal tumor|meningeal neoplasm|tumor of meninges|tumor of the meninges|meningothelial tumor|meningeal neoplasms|meningeal cluster neoplasm (disease)|neoplasm of meningeal cluster|meninges neoplasm|meningeal cluster tumor|neoplasm of meninges|meningeal cluster rare nervous system tumor|neoplasm of the meninges|meninges tumor|meningeal cluster neoplasm ordo_group_of_disorders MONDO:0016744 primary melanocytic tumor of central nervous system biolink:Disease mondo Orphanet:252028|UMLS:CN201991 UMLS:CN201991|ORPHA:252028 http://purl.obolibrary.org/obo/MONDO_0016744 primary melanocytic lesion of CNS|primary melanocytic tumor of CNS|primary melanocytic lesion of central nervous system ordo_group_of_disorders MONDO:0016745 diffuse leptomeningeal melanocytosis biolink:Disease mondo Orphanet:252031 Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis. ORPHA:252031 http://purl.obolibrary.org/obo/MONDO_0016745 leptomeningeal melanomatosis|DLM ordo_disease MONDO:0016740 choriocarcinoma of the central nervous system biolink:Disease mondo UMLS:CN201988|UMLS:C1332876|Orphanet:252015|NCIT:C7012 A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO) UMLS:CN201988|UMLS:C1332876|NCIT:C7012|ORPHA:252015 http://purl.obolibrary.org/obo/MONDO_0016740 central nervous system choriocarcinoma (disease)|choriocarcinoma of the CNS|choriocarcinoma of CNS|central nervous system choriocarcinoma ordo_clinical_subtype HGNC:8133 OLR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8133 MONDO:0016741 obsolete teratoma of the central nervous system biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016741 MONDO:0004749 myocardium cancer biolink:Disease mondo DOID:9299|NCIT:C4569|UMLS:C0346611 A malignant neoplasm involving the myocardium. DOID:9299|NCIT:C4569|UMLS:C0346611 http://purl.obolibrary.org/obo/MONDO_0004749 malignant myocardial tumor|malignant tumor of myocardium|malignant myocardial neoplasm|malignant tumor of the myocardium|myocardium cancer|malignant neoplasm of the myocardium|tumor of myocardium|malignant myocardium neoplasm|malignant neoplasm of myocardium|cancer of myocardium MONDO:0002105 toxic megacolon biolink:Disease mondo ICD10:K59.31|SCTID:28536002|ICD10:K59.3|MESH:D008532|UMLS:C0025162|DOID:1770|ICD9:564.7 An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis. DOID:1770|UMLS:C0025162|MESH:D008532|SNOMEDCT:28536002 http://purl.obolibrary.org/obo/MONDO_0002105 MONDO:0004768 keratoconjunctivitis biolink:Disease mondo NCIT:C34744|ICD9:370.8|MESH:D007637|ICD10:H16.20|COHD:380397|ICD9:370.40|SCTID:88151007|UMLS:C0022573|ICD9:370.49|DOID:9368|ICD10:H16.2 Inflammation of both the cornea and the conjunctiva. SNOMEDCT:88151007|NCIT:C34744|MESH:D007637|UMLS:C0022573|DOID:9368 http://purl.obolibrary.org/obo/MONDO_0004768 MONDO:0004767 vesiculitis biolink:Disease mondo DOID:9365|NCIT:C12787|UMLS:C0042588|COHD:200148|SCTID:27001009|ICD9:608.0|ICD10:N49.0 An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle. NCIT:C12787|SNOMEDCT:27001009|UMLS:C0042588|DOID:9365 http://purl.obolibrary.org/obo/MONDO_0004767 seminal vesicle|seminal vesicles|gland, seminal vesicle|seminal vesiculitis|seminal vesicle inflammation|inflammation of seminal vesicle|seminal Sacs MONDO:0002106 labyrinthine unilateral reactive loss biolink:Disease mondo UMLS:C0155519|DOID:1776|ICD9:386.55 DOID:1776|UMLS:C0155519 http://purl.obolibrary.org/obo/MONDO_0002106 loss of labyrinthine reactivity, unilateral|unilateral loss of labyrinthine reactivity MONDO:0002107 unilateral hyperactive labyrinth biolink:Disease mondo DOID:1777|UMLS:C0155515|ICD9:386.51 DOID:1777|UMLS:C0155515 http://purl.obolibrary.org/obo/MONDO_0002107 hyperactive unilateral labyrinthine dysfunction|hyperactive labyrinth, unilateral MONDO:0002108 thyroid cancer biolink:Disease mondo ICD9:193|UMLS:CN221577|SCTID:363478007|NCIT:C7510|COHD:4178976|KEGG:05216|DOID:1781|ICD10:C73 A malignant neoplasm involving the thyroid gland UMLS:CN221577|DOID:1781|SNOMEDCT:363478007|NCIT:C7510 http://purl.obolibrary.org/obo/MONDO_0002108 malignant neoplasm of the thyroid gland|malignant neoplasm of the thyroid|malignant thyroid gland tumor|malignant neoplasm of thyroid gland|malignant thyroid gland neoplasm|malignant neoplasm of thyroid|malignant thyroid neoplasm|thyroid gland neoplasm|malignant thyroid tumor|thyroid gland cancer|malignant tumor of the thyroid gland|malignant tumour of thyroid gland|malignant tumor of thyroid gland|malignant tumor of the thyroid|malignant tumor of thyroid|cancer of thyroid gland|neoplasm of thyroid gland|thyroid neoplasm MONDO:0004769 orbital plasma cell granuloma biolink:Disease mondo SCTID:80698001|MESH:D016727|ICD9:376.12|ICD10:H05.11|SCTID:72789009|COHD:433774|NCIT:C117296|DOID:9369 A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis). DOID:9369|MESH:D016727|NCIT:C117296|SNOMEDCT:72789009|SNOMEDCT:80698001 http://purl.obolibrary.org/obo/MONDO_0004769 orbital inflammatory pseudotumors|pseudotumor of orbit|granuloma, plasma cell, orbital|orbital inflammatory pseudotumor|inflammatory pseudotumor, orbital|orbital granuloma, plasma cell|inflammatory pseudotumor of orbit|orbital myositis|pseudotumor, orbital|pseudotumor, inflammatory, orbital|pseudotumors, orbital|orbital pseudotumors|plasma cell granuloma, orbital|pseudotumor, orbital inflammatory|inflammatory pseudotumors, orbital MONDO:0004764 fibular collateral ligament bursitis biolink:Disease mondo UMLS:C0158316|SCTID:77323000|ICD9:726.63|DOID:9358 SNOMEDCT:77323000|UMLS:C0158316|DOID:9358 http://purl.obolibrary.org/obo/MONDO_0004764 MONDO:0002101 facial nerve neoplasm biolink:Disease mondo SCTID:126973004|ICD9:239.7|NCIT:C5827|DOID:1760|UMLS:C1263899 A neoplasm involving a facial nerve. NCIT:C5827|UMLS:C1263899|SNOMEDCT:126973004|DOID:1760 http://purl.obolibrary.org/obo/MONDO_0002101 neoplasm of facial nerve|neoplasm of Facial nerve|neoplasm of the Facial nerve|seventh cranial nerve neoplasm|neoplasm of the seventh cranial nerve|neoplasm of seventh cranial nerve|seventh cranial nerve tumor|facial nerve neoplasms|facial nerve neoplasm|seventh cranial nerve tumors|tumor of facial nerve|facial nerve tumor|seventh cranial nerve neoplasms|facial nerve tumors|tumor of the Facial nerve|tumor of the seventh cranial nerve|tumor of Facial nerve|tumor of seventh cranial nerve|facial nerve neoplasm (disease)|VIIth cranial nerve neoplasms|VIIth cranial nerve tumors MONDO:0002102 cheilitis biolink:Disease mondo HP:0100825|SCTID:7847004|UMLS:C0007971|DOID:1762|MESH:D002613|NCIT:C79545|ICD10:K13.0 An inflammatory process affecting the lip. DOID:1762|NCIT:C79545|MESH:D002613|SNOMEDCT:7847004|UMLS:C0007971 http://purl.obolibrary.org/obo/MONDO_0002102 lip inflammation|inflammation of lip MONDO:0004763 carotid artery dissection biolink:Disease mondo ICD9:443.21|SCTID:720626009|NCIT:C125662|DOID:9348|ICD10:I77.71|UMLS:C0338585 Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke. UMLS:C0338585|DOID:9348|NCIT:C125662|SNOMEDCT:720626009 http://purl.obolibrary.org/obo/MONDO_0004763 dissection of carotid artery MONDO:0002103 factitious disorder biolink:Disease mondo NCIT:C92198|ICD9:300.19|MESH:D009110|DOID:1766|ICD9:300.16|COHD:440984|ICD10:F68.11|SCTID:50705009 A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors. DOID:1766|SNOMEDCT:50705009|MESH:D009110|NCIT:C92198 http://purl.obolibrary.org/obo/MONDO_0002103 Munchausen syndrome MONDO:0004766 status asthmaticus biolink:Disease mondo UMLS:C0038218|ICD10:J46|DOID:9362|SCTID:708090002|EFO:0008590|NCIT:C122577|ICD9:493.91|MESH:D013224|COHD:45769438 An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators. NCIT:C122577|UMLS:C0038218|MESH:D013224|SNOMEDCT:708090002|DOID:9362 http://purl.obolibrary.org/obo/MONDO_0004766 asthma with status asthmaticus|severe asthma attack HGNC:8140 OPA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8140 MONDO:0002104 conversion disorder biolink:Disease mondo DOID:1768|MESH:D003291|GARD:0006191|ICD9:300.11|ICD10:F44 Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve. DOID:1768|MESH:D003291 http://purl.obolibrary.org/obo/MONDO_0002104 hysterical neurosis, conversion type|FND|conversion hysterical neurosis|functional neurological disorder|functional movement disorder|conversion hysteria or reaction gard_rare MONDO:0004765 intrinsic asthma biolink:Disease mondo SCTID:266361008|DOID:9360|ICD10:J45|ICD9:493.1|COHD:4145497|UMLS:C0155880 An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. SNOMEDCT:266361008|UMLS:C0155880|DOID:9360 http://purl.obolibrary.org/obo/MONDO_0004765 MONDO:0004760 urethral false passage biolink:Disease mondo ICD10:N36.5|ICD9:599.4|COHD:196465|SCTID:74944002|DOID:9339 SNOMEDCT:74944002|DOID:9339 http://purl.obolibrary.org/obo/MONDO_0004760 MONDO:0004762 Taylor syndrome biolink:Disease mondo UMLS:C0152078|COHD:201347|SCTID:39402007|ICD9:625.5|DOID:9346 SNOMEDCT:39402007|DOID:9346|UMLS:C0152078 http://purl.obolibrary.org/obo/MONDO_0004762 Taylor's syndrome|pelvic congestion syndrome|congestion-fibrosis syndrome MONDO:0004761 obsolete urethral diverticulum (disease) biolink:Disease mondo ICD9:599.2|ICD10:N36.1|DOID:9341 DOID:9341 http://purl.obolibrary.org/obo/MONDO_0004761 MONDO:0002100 cardiovascular cancer biolink:Disease mondo DOID:176|NCIT:C114940|UMLS:C3898472|UMLS:C0497243 A primary or metastatic malignant neoplasm involving the cardiovascular system. DOID:176|UMLS:C3898472|NCIT:C114940|UMLS:C0497243 http://purl.obolibrary.org/obo/MONDO_0002100 cancer of cardiovascular system|malignant cardiovascular neoplasm|cardiovascular neoplasm|cardiovascular tumors|malignant neoplasm of cardiovascular system|malignant cardiovascular system neoplasm|cardiovascular system cancer MONDO:0016728 obsolete cerebellar liponeurocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016728 MONDO:0016729 mixed neuronal-glial tumor biolink:Disease mondo UMLS:C0474844|Orphanet:251934|NCIT:C4747|UMLS:CN201977 A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO) UMLS:C0474844|ORPHA:251934|NCIT:C4747|UMLS:CN201977 http://purl.obolibrary.org/obo/MONDO_0016729 neuronal and mixed neuronal-glial tumors|neuronal and Glio-neuronal tumor|neuronal and Glio-neuronal neoplasm|neuronal and mixed neuronal-glial tumor ordo_group_of_disorders MONDO:0016735 papillary glioneuronal tumor biolink:Disease mondo ONCOTREE:PGNT|Orphanet:251962|NCIT:C92554|UMLS:C2985174|ICDO:9509/1 A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present. UMLS:C2985174|ORPHA:251962|NCIT:C92554 http://purl.obolibrary.org/obo/MONDO_0016735 pseudopapillary neurocytoma with glial differentiation|PGNT|pseudopapillary ganglioglioneurocytoma|papillary glioneuronal tumor (WHO grade I) ordo_disease MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule biolink:Disease mondo Orphanet:251975|UMLS:C4331262|UMLS:CN201984|NCIT:C129431 A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal. ORPHA:251975|NCIT:C129431|UMLS:CN201984|UMLS:C4331262 http://purl.obolibrary.org/obo/MONDO_0016736 DNT of the cerebellum|dysembryoplastic neuroepithelial tumor of cerebellum|RGNT|rosette-forming glioneuronal tumor ordo_disease HGNC:8149 OPLAH biolink:OntologyClass mondo http://identifiers.org/hgnc/8149 UBERON:0001383 muscle of leg biolink:AnatomicalEntity mondo A muscle that is part of the region of the hindlimb between the pelvis and ankle. http://purl.obolibrary.org/obo/UBERON_0001383 leg muscle|muscle organ of leg|muscle of upper or lower hindlimb segment|leg skeletal muscle tissue|skeletal muscle of leg|muscle of upper/lower leg|muscle of hindlimb zeugopod or stylopod|muscle of thigh or crus|leg skeletal muscle|leg muscle organ MONDO:0016737 obsolete ganglioneuroma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016737 HGNC:18806 CAMTA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/18806 MONDO:0016738 primary germ cell tumor of central nervous system biolink:Disease mondo UMLS:CN201986|Orphanet:251995 ORPHA:251995|UMLS:CN201986 http://purl.obolibrary.org/obo/MONDO_0016738 primary germ cell tumor of CNS ordo_group_of_disorders MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma biolink:Disease mondo UMLS:CN201979|Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures. ORPHA:251940|UMLS:CN201979 http://purl.obolibrary.org/obo/MONDO_0016731 DIA/DIG ordo_disease MONDO:0016732 obsolete dysembryoplastic neuroepithelial tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016732 MONDO:0016733 ganglioglioma biolink:Disease mondo DOID:5078|ONCOTREE:GNG|NCIT:C3788|EFO:0003094|MedDRA:10017701|SCTID:87191000119100|MESH:D018303|UMLS:C0206716|ICDO:9505/1|Orphanet:251949|GARD:0002430 A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO) ORPHA:251949|NCIT:C3788|DOID:5078|SNOMEDCT:87191000119100|UMLS:C0206716|MEDDRA:10017701|MESH:D018303 http://purl.obolibrary.org/obo/MONDO_0016733 adult ganglioglioma|childhood ganglioglioma|CNS ganglioglioma|ganglioglioma|mixed cell tumors containing both neural ganglionic cells and neural glial cell components ordo_disease|gard_rare HGNC:18801 POGZ biolink:OntologyClass mondo http://identifiers.org/hgnc/18801 MONDO:0016734 anaplastic ganglioglioma biolink:Disease mondo Orphanet:251957|ONCOTREE:AGNG|ICDO:9505/3|GARD:0010639|UMLS:C0431112|NCIT:C4717 A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO) ORPHA:251957|NCIT:C4717|UMLS:C0431112 http://purl.obolibrary.org/obo/MONDO_0016734 AGNG ordo_disease|gard_rare HGNC:18802 ATPAF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18802 HGNC:8142 OPA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/8142 NCBITaxon:35789 Rickettsia helvetica organism taxon mondo GC_ID:11|PMID:8102245 http://purl.obolibrary.org/obo/NCBITaxon_35789 MONDO:0016730 gangliocytoma biolink:Disease mondo GARD:0010638|UMLS:CN201978|NCIT:C6934|ONCOTREE:GNC|DOID:2426|ICD10:D36.1|MESH:D005729|ICDO:9492/0|Orphanet:251937 A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells. MESH:D005729|ORPHA:251937|UMLS:CN201978|DOID:2426|NCIT:C6934 http://purl.obolibrary.org/obo/MONDO_0016730 GNC gard_rare|ordo_disease NCBITaxon:35788 Rickettsia africae organism taxon mondo GC_ID:11|PMID:8934912|PMID:7902843 http://purl.obolibrary.org/obo/NCBITaxon_35788 HGNC:8143 OPCML biolink:OntologyClass mondo http://identifiers.org/hgnc/8143 UBERON:0001384 primary motor cortex biolink:AnatomicalEntity mondo The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html http://purl.obolibrary.org/obo/UBERON_0001384 somatic motor areas|motor area|excitable area|primary motor area|motor cortex|somatomotor areas|prefrontal gyrus|gyrus precentralis|Rolando's area HGNC:8148 OPHN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8148 MONDO:0004735 obsolete Alagille syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004735 MONDO:0004734 obsolete erythromelalgia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004734 MONDO:0004737 homocystinuria (disease) biolink:Disease mondo GARD:0010770|HP:0002156|UMLS:C0019880|NCIT:C84765|SCTID:11282001|DOID:9263|ICD10:E72.11 An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. SNOMEDCT:11282001|UMLS:C0019880|DOID:9263|NCIT:C84765 http://purl.obolibrary.org/obo/MONDO_0004737 cystathionine beta synthase deficiency|cystathionine synthase deficiency|homocystinuria|CBS deficiency MONDO:0004736 inherited amino acid metabolic disorder biolink:Disease mondo SCTID:42930003|MESH:D000592|ICD9:270|GARD:0006770|DOID:9252|ICD9:270.9|ICD10:E72.9 An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. DOID:9252|SNOMEDCT:42930003|MESH:D000592 http://purl.obolibrary.org/obo/MONDO_0004736 rare inborn error of cellular amino acid metabolic process|inborn errors of amino acid metabolism|inborn error of amino acid metabolism|inborn cellular amino acid metabolic process disorder|inborn amino acid metabolism disorder|amino acid metabolism, inborn errors|rare inborn error of cellular amino acid metabolic process|amino acid metabolic disorder|inborn error of cellular amino acid metabolic process MONDO:0004731 central sleep apnea syndrome biolink:Disease mondo MESH:D020182|ICD10:G47.31|SCTID:27405005|DOID:9220|ICD9:327.21|NCIT:C27169|UMLS:C3887547 A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health. DOID:9220|MESH:D020182|UMLS:C3887547|SNOMEDCT:27405005|NCIT:C27169 http://purl.obolibrary.org/obo/MONDO_0004731 central sleep-disordered breathing|central sleep-disordered Breathings|central sleep apnea, primary|central alveolar hypoventilation syndrome|sleep Apneas, central|central apnea|Apneas, central sleep|central alveolar hypoventilation|hypoventilations, central alveolar|apnea, central sleep|primary central sleep apnea|alveolar hypoventilation, central|central sleep Apneas|central sleep apnea syndrome|sleep-disordered breathing, central|Apneas, central|apnea, sleep, central|central sleep apnea, secondary|sleep disordered breathing, central|central sleep apnea|ondine syndrome|apnea, central|breathing, central sleep-disordered|Breathings, central sleep-disordered|central sleep disordered breathing|sleep-disordered Breathings, central|secondary central sleep apnea|hypoventilation, central alveolar|sleep apnea, lethal central|central Apneas|alveolar hypoventilations, central GO:1901505 carbohydrate derivative transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of carbohydrate derivative from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_1901505 carbohydrate derivative transporter activity MONDO:0004730 speech disorder biolink:Disease mondo MESH:D013064|NCIT:C5041|DOID:92|ICD9:784.49|UMLS:C0037822|SCTID:47004009|ICD9:784.40 A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. DOID:92|MESH:D013064|SNOMEDCT:47004009|UMLS:C0037822|NCIT:C5041 http://purl.obolibrary.org/obo/MONDO_0004730 speech impediment or impairment CHEBI:24745 hydroxypyridine biolink:ChemicalSubstance mondo Any member of the class of pyridines with at least one hydroxy substituent. http://purl.obolibrary.org/obo/CHEBI_24745 hydroxypyridines MONDO:0004733 pyriform sinus cancer biolink:Disease mondo ICD10:C12|SCTID:363401000|DOID:9235|UMLS:C0153400|ICD9:148.1|NCIT:C3531 A primary or metastatic malignant neoplasm that affects the pyriform sinus. DOID:9235|UMLS:C0153400|SNOMEDCT:363401000|NCIT:C3531 http://purl.obolibrary.org/obo/MONDO_0004733 malignant tumor of pyriform fossa|malignant tumor of the pyriform fossa|malignant tumor of pyriform sinus|malignant tumor of the pyriform sinus|malignant neoplasm of pyriform fossa|malignant pyriform sinus neoplasm|malignant pyriform fossa tumor|malignant neoplasm of pyriform sinus|malignant pyriform fossa neoplasm|malignant neoplasm of the pyriform sinus|malignant pyriform sinus tumor|malignant neoplasm of the pyriform fossa GO:1901503 ether biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of ether. http://purl.obolibrary.org/obo/GO_1901503 ether formation|ether biosynthesis|ether anabolism|ether synthesis MONDO:0004732 kidney carcinoma in situ biolink:Disease mondo UMLS:C0686172|DOID:9234|ICD9:233.9|SCTID:92624000|ICD10:D09.1 A carcinoma in situ involving a kidney. DOID:9234|UMLS:C0686172|SNOMEDCT:92624000 http://purl.obolibrary.org/obo/MONDO_0004732 stage 0 kidney carcinoma|kidney in situ carcinoma|carcinoma in situ of kidney MONDO:0016717 choroid plexus neoplasm biolink:Disease mondo SCTID:254942002|UMLS:C0085138|Orphanet:251896|NCIT:C3473|ONCOTREE:CPT An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma. ORPHA:251896|NCIT:C3473|UMLS:C0085138|SNOMEDCT:254942002 http://purl.obolibrary.org/obo/MONDO_0016717 tumor of choroid plexus|tumor of the choroid plexus|choroid plexus neoplasm|neoplasm of choroid plexus|choroid plexus tumor|neoplasm of the choroid plexus ordo_group_of_disorders MONDO:0016718 choroid plexus carcinoma biolink:Disease mondo MESH:C562943|GARD:0008238|ONCOTREE:CPC|ICDO:9390/3|ICD10:C71.7|Orphanet:251899|MedDRA:10067478|SCTID:188292007|DOID:5648|NCIT:C4715 A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO) SNOMEDCT:188292007|UMLS:C0431109|ORPHA:251899|MESH:C562943|NCIT:C4715|MEDDRA:10067478|DOID:5648 http://purl.obolibrary.org/obo/MONDO_0016718 carcinoma, choroid plexus, malignant|choroid plexus carcinoma|anaplastic choroid plexus papilloma|cancer of choroid plexus|choroid plexus carcinoma (morphologic abnormality)|malignant neoplasm of choroid plexus|choroid plexus cancer|malignant tumor of choroid plexus|malignant neoplasm of the choroid plexus|cancer of the choroid plexus|carcinoma of choroid plexus|carcinoma of the choroid plexus ordo_disease MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome biolink:Disease mondo UMLS:C2931529|GARD:0003632|Orphanet:2519|ICD10:Q87.8|MESH:C537544 Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males. MESH:C537544|UMLS:C2931529|ORPHA:2519 http://purl.obolibrary.org/obo/MONDO_0016719 microcephaly seizures intellectual disability heart disorders|microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities|microcephaly seizures mental retardation heart disorders|microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities ordo_malformation_syndrome MONDO:0016724 papillary tumor of the pineal region biolink:Disease mondo Orphanet:251915|ICDO:9395/3|ICD10:D44.5|UMLS:C2985219|NCIT:C92624|ONCOTREE:PTPR|EFO:1000451 Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus. UMLS:C2985219|ORPHA:251915|NCIT:C92624 http://purl.obolibrary.org/obo/MONDO_0016724 PTPR ordo_disease MONDO:0016725 pineal parenchymal tumor of intermediate differenciation biolink:Disease mondo UMLS:CN201973|Orphanet:251919|ICD10:D44.5 Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. ORPHA:251919|UMLS:CN201973 http://purl.obolibrary.org/obo/MONDO_0016725 ordo_disease MONDO:0016726 neuronal tumor biolink:Disease mondo Orphanet:251924|UMLS:CN201974 ORPHA:251924|UMLS:CN201974 http://purl.obolibrary.org/obo/MONDO_0016726 ordo_group_of_disorders MONDO:0016727 extraventricular neurocytoma biolink:Disease mondo Orphanet:251927|UMLS:C2985175|ICDO:9506/1|SCTID:716787002|ONCOTREE:EVN|UMLS:CN201975|NCIT:C92555 Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior. UMLS:C2985175|ORPHA:251927|SNOMEDCT:716787002|UMLS:CN201975|NCIT:C92555 http://purl.obolibrary.org/obo/MONDO_0016727 EVN|extraventricular neurocytoma (WHO grade II) ordo_disease MONDO:0016720 obsolete atypical papilloma of choroid plexus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016720 MONDO:0016721 pineal tumor of neuroepithelial tissue biolink:Disease mondo UMLS:CN201969|Orphanet:251905 ORPHA:251905|UMLS:CN201969 http://purl.obolibrary.org/obo/MONDO_0016721 ordo_group_of_disorders MONDO:0016722 pineoblastoma biolink:Disease mondo MedDRA:10050487|GARD:0009369|DOID:1664|ICD10:C75.3|NCIT:C9344|ONCOTREE:PBL|EFO:1000475|Orphanet:251909|UMLS:C0205898|ICDO:9362/3 Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis. UMLS:C0205898|DOID:1664|ORPHA:251909|NCIT:C9344|MEDDRA:10050487 http://purl.obolibrary.org/obo/MONDO_0016722 pineal primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of pineal gland|primitive neuroectodermal neoplasm of the pineal gland|pineoblastoma|pineal primitive neuroectodermal neoplasm|pineal gland primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of pineal gland|primitive neuroectodermal tumor of the pineal gland|PNET of pineal gland|pineal PNET|PNET of the pineal gland|pineoblastoma, malignant|pineal gland PNET|pineoblastoma (WHO grade IV)|pineal gland primitive neuroectodermal tumor gard_rare|ordo_disease MONDO:0016723 pineocytoma (disease) biolink:Disease mondo ICD10:D44.5|ONCOTREE:PINC|SCTID:255045009|UMLS:C0917890|Orphanet:251912|HP:0030407|MedDRA:10035059|ICDO:9361/1|EFO:1000476|NCIT:C6966|GARD:0008207 Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis. NCIT:C6966|ORPHA:251912|MEDDRA:10035059|SNOMEDCT:255045009|UMLS:C0917890 http://purl.obolibrary.org/obo/MONDO_0016723 pineocytoma|benign pinealoma|pineocytoma, benign|pinealocytoma|Pineocytoma (WHO grade I) ordo_disease OIO:hasOBOFormatVersion has_obo_format_version biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#hasOBOFormatVersion MONDO:0004728 diabetic macular edema biolink:Disease mondo UMLS:C0730285|COHD:380097|DOID:9191|SCTID:312912001|ICD9:362.07 SNOMEDCT:312912001|DOID:9191|UMLS:C0730285 http://purl.obolibrary.org/obo/MONDO_0004728 HGNC:8157 SIGMAR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8157 MONDO:0004727 vestibule of mouth cancer biolink:Disease mondo UMLS:C0153374|COHD:4090226|SCTID:187658004|DOID:9188|ICD9:145.1|ICD10:C06.1 A cancer that involves the oral opening. DOID:9188|UMLS:C0153374|SNOMEDCT:187658004 http://purl.obolibrary.org/obo/MONDO_0004727 malignant neoplasm of oral opening|malignant neoplasm of vestibule of mouth|oral opening cancer|malignant oral opening neoplasm|malignant tumor of vestibule of mouth|cancer of oral opening MONDO:0004729 dyskinesia of esophagus biolink:Disease mondo ICD10:K22.4|DOID:9192|UMLS:C0014858|ICD9:530.5|SCTID:266434009|EFO:1001785|MESH:D015154 Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus). UMLS:C0014858|DOID:9192|MESH:D015154|SNOMEDCT:266434009 http://purl.obolibrary.org/obo/MONDO_0004729 esophageal motility disorder|dyskinesia of oesophagus|oesophageal motor disorder|esophageal dysmotility|oesophageal dysmotility MONDO:0004746 myopathy of extraocular muscle biolink:Disease mondo ICD9:376.82|SCTID:57130002|DOID:929|ICD10:H05.82|UMLS:C0155286 A myopathy that involves the extra-ocular muscle. DOID:929|SNOMEDCT:57130002|UMLS:C0155286 http://purl.obolibrary.org/obo/MONDO_0004746 myopathy of extraocular muscles|myopathy of extra-ocular muscle|extra-ocular muscle myopathy MONDO:0004745 priapism biolink:Disease mondo ICD10:N48.3|SCTID:6273006|COHD:315586|DOID:9286|MESH:D011317|UMLS:C0033117|ICD9:607.3|ICD10:N48.30 Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications. DOID:9286|UMLS:C0033117|SNOMEDCT:6273006|MESH:D011317|NCIT:C85022 http://purl.obolibrary.org/obo/MONDO_0004745 Mentulagra MONDO:0004748 lip disease biolink:Disease mondo UMLS:C0023760|SCTID:90678009|MESH:D008047|NCIT:C26818|ICD10:K13.0|DOID:9297|ICD9:528.5 A disease involving the lip. UMLS:C0023760|DOID:9297|NCIT:C26818|MESH:D008047|SNOMEDCT:90678009 http://purl.obolibrary.org/obo/MONDO_0004748 lip disorder|disease of lip|lip disease or disorder|disease of lips|disorder of lip|disorder of lip|lip disease|disease or disorder of lip MONDO:0004747 cleft lip (disease) biolink:Disease mondo MESH:D002971|ICD9:749.1|NCIT:C87175|ICD10:Q36|ICD9:749.10|ICD10:Q36.9|ICD9:749.11|SCTID:80281008|DOID:9296|EFO:0003959|HP:0410030|COHD:133861 A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. SNOMEDCT:80281008|DOID:9296|MESH:D002971|NCIT:C87175 http://purl.obolibrary.org/obo/MONDO_0004747 hare lip|labium leporinum|cheiloschisis|cleft lip, unilateral, complete|cleft lip|complete unilateral cleft lip MONDO:0004742 primary cerebellar degeneration biolink:Disease mondo ICD9:334.2|DOID:9277|COHD:436391|UMLS:C0033132|SCTID:23732000 A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. DOID:9277|UMLS:C0033132|SNOMEDCT:23732000 http://purl.obolibrary.org/obo/MONDO_0004742 MONDO:0004741 tyrosinemia biolink:Disease mondo OMIMPS:276700|DOID:9275|ICD10:E70.21|SCTID:190694001|UMLS:C0268483|ICD9:270.2|NCIT:C98640|MESH:D020176 An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. MESH:D020176|UMLS:C0268483|SNOMEDCT:190694001|DOID:9275|NCIT:C98640 http://purl.obolibrary.org/obo/MONDO_0004741 UBERON:0001359 cerebrospinal fluid biolink:AnatomicalEntity mondo A clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord. http://purl.obolibrary.org/obo/UBERON_0001359 cerebral spinal fluid|CSF|spinal fluid|liquor cerebrospinalis MONDO:0004744 borderline glaucoma biolink:Disease mondo SCTID:193531003|ICD9:365.00|COHD:4102183|ICD10:H40.00|DOID:9283|UMLS:C1533674 DOID:9283|SNOMEDCT:193531003|UMLS:C1533674 http://purl.obolibrary.org/obo/MONDO_0004744 Preglaucoma MONDO:0004743 hyperhomocysteinemia biolink:Disease mondo DOID:9279|SCTID:419503008|UMLS:C0598608|MESH:D020138|NCIT:C84770 A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. DOID:9279|SNOMEDCT:419503008|MESH:D020138|NCIT:C84770|UMLS:C0598608 http://purl.obolibrary.org/obo/MONDO_0004743 MONDO:0004740 obsolete hyperlysinemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004740 MONDO:0016706 chordoid glioma of the third ventricle biolink:Disease mondo DOID:3774|UMLS:C1322252|DOID:3773|ICD10:C71.9|NCIT:C5592|GARD:0010636|ONCOTREE:CHGL|SCTID:715900001|ICDO:9444/1|Orphanet:251674 A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. DOID:3774|DOID:3773|ORPHA:251674|NCIT:C5592|UMLS:C1322252|SNOMEDCT:715900001 http://purl.obolibrary.org/obo/MONDO_0016706 chordoid glioma|chordoid glioma of the 3rd ventricle|third ventricle chordoid glioma|chordoid glioma of third ventricle|chordoid glioma of the third ventricle (WHO grade II)|chordoid glioma of the third ventricle|chordoid glioma of 3rd ventricle|chordoid glioma (morphologic abnormality) ordo_disease|gard_rare MONDO:0016707 astroblastoma biolink:Disease mondo DOID:7305|ICD10:C71.9|ONCOTREE:ASTB|UMLS:C0334587|ICDO:9430/3|Orphanet:251679|NCIT:C4324|GARD:0010635 Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches. ORPHA:251679|NCIT:C4324|UMLS:C0334587|DOID:7305 http://purl.obolibrary.org/obo/MONDO_0016707 cerebral astroblastoma|AstB|astroblastoma (morphologic abnormality)|astroblastoma ordo_disease|gard_rare MONDO:0016708 embryonal tumor of neuroepithelial tissue biolink:Disease mondo UMLS:CN201955|Orphanet:251852 UMLS:CN201955|ORPHA:251852 http://purl.obolibrary.org/obo/MONDO_0016708 ordo_group_of_disorders MONDO:0016709 anaplastic/large cell medulloblastoma biolink:Disease mondo ONCOTREE:AMBL|ICD10:C71.6|UMLS:C4330531|Orphanet:251855|NCIT:C129436 A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity. NCIT:C129436|UMLS:C4330531|ORPHA:251855 http://purl.obolibrary.org/obo/MONDO_0016709 large cell/anaplastic medulloblastoma ordo_histopathological_subtype MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor biolink:Disease mondo MedDRA:10057846|NCIT:C129537|Orphanet:251870 A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone. MEDDRA:10057846|ORPHA:251870|NCIT:C129537|UMLS:C0206663 http://purl.obolibrary.org/obo/MONDO_0016713 CNS PNET|central nervous system PNET|central nervous system primitive neuroectodermal tumor|central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor ordo_group_of_disorders MONDO:0016714 obsolete ganglioneuroblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016714 MONDO:0016715 ependymoblastoma biolink:Disease mondo Orphanet:251880|NCIT:C4915|ICD10:C71.9|DOID:4794|MedDRA:10014966|GARD:0006352|ONCOTREE:ETANTR|UMLS:C0700367|SCTID:715901002 Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. DOID:4794|ORPHA:251880|MEDDRA:10014966|UMLS:C0700367|NCIT:C4915|SNOMEDCT:715901002 http://purl.obolibrary.org/obo/MONDO_0016715 embryonal tumor with abundant neuropil and true rosettes|embryonal tumor with abundant neuropil and true Rosettes|ETANTR|embryonal tumor with Multilayered Rosettes with C19MC amplification|ependymoblastoma|ETMR|embryonal tumor with Multilayered Rosettes, C19MC-altered|neuroectodermal tumors primitive|embryonal tumor with Multilayered Rosettes|ETMR, C19MC-altered ordo_disease UBERON:0001361 femoral vein biolink:AnatomicalEntity mondo In the human body, the femoral vein is a blood vessel that accompanies the femoral artery in the femoral sheath. It begins at the adductor canal (also known as Hunter's canal) and is a continuation of the popliteal vein. It ends at the inferior margin of the inguinal ligament, where it becomes the external iliac vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001361 vena femoralis MONDO:0016716 obsolete medulloepithelioma of the central nervous system biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016716 MONDO:0016710 medulloblastoma with extensive nodularity biolink:Disease mondo Orphanet:251858|ONCOTREE:MBEN|NCIT:C5407|UMLS:CN201957|ICD10:C71.6|ICDO:9471/3|UMLS:C1334970 Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis. NCIT:C5407|ORPHA:251858|UMLS:C1334970|UMLS:CN201957 http://purl.obolibrary.org/obo/MONDO_0016710 medulloblastoma with extensive nodularity and advanced neuronal differentiation|MBEN|medulloblastoma with extensive nodularity|cerebellar neuroblastoma|nodular medulloblastoma ordo_histopathological_subtype MONDO:0016711 desmoplastic/nodular medulloblastoma biolink:Disease mondo UMLS:C0751291|NCIT:C4956|Orphanet:251863|ICDO:9471/3|ICD10:C71.6|ONCOTREE:DMBL Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache. ORPHA:251863|NCIT:C4956|UMLS:C0751291 http://purl.obolibrary.org/obo/MONDO_0016711 Desmoplastic/nodular medulloblastoma|Desmoplastic nodular medulloblastoma|Desmoplastic medulloblastoma ordo_histopathological_subtype MONDO:0016712 classic medulloblastoma biolink:Disease mondo SCTID:699704002|UMLS:C1707400|NCIT:C54039|ICD10:C71.6|Orphanet:251867 Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia. NCIT:C54039|ORPHA:251867|SNOMEDCT:699704002|UMLS:C1707400 http://purl.obolibrary.org/obo/MONDO_0016712 classic medulloblastoma ordo_histopathological_subtype CHEBI:48706 antagonist biolink:ChemicalSubstance mondo Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances. http://purl.obolibrary.org/obo/CHEBI_48706 antagoniste|antagonists|antagonista|antagonist GO:0060405 regulation of penile erection biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. http://purl.obolibrary.org/obo/GO_0060405 CHEBI:48705 agonist biolink:ChemicalSubstance mondo Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own. http://purl.obolibrary.org/obo/CHEBI_48705 agoniste|agonists|agonista|agonist UBERON:0001366 parietal peritoneum biolink:AnatomicalEntity mondo The outer layer of peritoneum that is attached to the abdominal and pelvic walls. http://purl.obolibrary.org/obo/UBERON_0001366 parietal serous membrane of peritoneum|peritoneal cavity lining GO:0060406 positive regulation of penile erection biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. http://purl.obolibrary.org/obo/GO_0060406 GO:0060407 negative regulation of penile erection biolink:OntologyClass mondo Any process that stops, prevents, or reduces the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. http://purl.obolibrary.org/obo/GO_0060407 MONDO:0004739 urea cycle disorder biolink:Disease mondo UMLS:C0154246|MESH:D056806|COHD:434311|ICD10:E72.2|DOID:9267|NCIT:C84785|Orphanet:79167|GARD:0007837|SCTID:36444000|ICD10:E72.20|ICD9:270.6 A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. ORPHA:79167|UMLS:C0154246|DOID:9267|SNOMEDCT:36444000|NCIT:C84785|MESH:D056806 http://purl.obolibrary.org/obo/MONDO_0004739 disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia|urea cycle disorders|urea cycle metabolism disorder|inborn disorder of urea cycle metabolism and ammonia detoxification|disorder of urea cycle metabolism|urea cycle defect|disorder of urea cycle metabolism and ammonia detoxification|UCD|inborn urea cycle disorder ordo_group_of_disorders MONDO:0004738 histidine metabolism disease biolink:Disease mondo SCTID:44176004|UMLS:C0268512 A disease that has its basis in the disruption of histidine metabolic process. SNOMEDCT:44176004|UMLS:C0268512 http://purl.obolibrary.org/obo/MONDO_0004738 disturbance of histidine metabolism|disorder of histidine metabolic process|disorder of histidine metabolic process|histidine metabolic process disease|disorder of histidine metabolism UBERON:0001365 sacro-iliac joint biolink:AnatomicalEntity mondo The joint in the bony pelvis between the sacrum and the ilium of the pelvis, which are joined by strong ligaments. http://purl.obolibrary.org/obo/UBERON_0001365 articulatio sacro-iliaca|sacroiliac joint MONDO:0002138 allergic contact dermatitis of eyelid biolink:Disease mondo ICD9:373.32|DOID:1895|SCTID:402249007|UMLS:C0155178|ICD9:692.9 A allergic contact dermatitis that involves the eyelid. SNOMEDCT:402249007|UMLS:C0155178|DOID:1895 http://purl.obolibrary.org/obo/MONDO_0002138 eyelid allergic contact dermatitis|contact and allergic dermatitis of eyelid MONDO:0002139 sigmoid disease biolink:Disease mondo DOID:1897|UMLS:C0037072|MESH:D012810 Pathological processes in the sigmoid colon region of the large intestine (intestine, large). UMLS:C0037072|MESH:D012810|DOID:1897 http://purl.obolibrary.org/obo/MONDO_0002139 MONDO:0002134 physiological sexual disorder biolink:Disease mondo MESH:D012735|UMLS:C0549622|ICD10:R37|ICD10:F52.9|DOID:1876 Physiological disturbances in normal sexual performance in either the male or the female. UMLS:C0549622|MESH:D012735|DOID:1876|NCIT:C3347 http://purl.obolibrary.org/obo/MONDO_0002134 physiological sexual dysfunctions|physiological sexual dysfunction|Sex disorders|sexual disorders, physiological|sexual dysfunction|physiological sexual disorder|physiological sexual disorders|sexual dysfunctions, physiological|sexual disorder, physiological MONDO:0004797 mononeuritis of lower limb biolink:Disease mondo ICD9:355|ICD9:355.8|DOID:9473 A mononeuritis simplex that involves the hindlimb. DOID:9473 http://purl.obolibrary.org/obo/MONDO_0004797 hindlimb mononeuritis simplex|mononeuritis simplex of hindlimb MONDO:0004796 infectious meningitis biolink:Disease mondo ICD10:G03|DOID:9471|EFO:0000584|ICD9:322|ICD10:G03.9|ICD9:321.8|MESH:D008581|NCIT:C79598|HP:0001287|ICD9:322.9|SCTID:312216007 Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. MESH:D008581|SNOMEDCT:312216007|DOID:9471|NCIT:C79598 http://purl.obolibrary.org/obo/MONDO_0004796 infectious meningitis|infective meningitis|meningitis MONDO:0002135 optic nerve disease biolink:Disease mondo ICD9:377.9|UMLS:C0029132|DOID:1891|COHD:374360|SCTID:77157004|NCIT:C79698|ICD9:377.49|MESH:D009901 A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). MESH:D009901|UMLS:C0029132|SNOMEDCT:77157004|DOID:1891|NCIT:C79698 http://purl.obolibrary.org/obo/MONDO_0002135 second cranial nerve disorder|disorder of cranial nerve II|disease of cranial nerve II|disease or disorder of cranial nerve II|optic nerve disorder|cranial nerve II disease|optic neuropathy|cranial nerve II disease or disorder|disorder of cranial nerve II|disorder of the second nerve MONDO:0004799 ulcerative blepharitis biolink:Disease mondo COHD:441558|ICD10:H01.01|SCTID:91662004|UMLS:C0155173|ICD9:373.01|DOID:9483 UMLS:C0155173|DOID:9483|SNOMEDCT:91662004 http://purl.obolibrary.org/obo/MONDO_0004799 MONDO:0002136 eczematous dermatitis of eyelid biolink:Disease mondo SCTID:36259009|DOID:1893|COHD:437557|ICD9:373.31|UMLS:C0155177|ICD10:H01.13 UMLS:C0155177|SNOMEDCT:36259009|DOID:1893 http://purl.obolibrary.org/obo/MONDO_0002136 MONDO:0002137 noninfectious dermatoses of eyelid biolink:Disease mondo SCTID:111524003|DOID:1894|ICD10:H01.1|UMLS:C0155176|ICD9:373.3 UMLS:C0155176|DOID:1894|SNOMEDCT:111524003 http://purl.obolibrary.org/obo/MONDO_0002137 non-infected eyelid dermatoses MONDO:0004798 obsolete Sheehan syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004798 MONDO:0002130 upper limb mononeuronitis biolink:Disease mondo ICD9:354.9|DOID:1844 A disease affecting a single peripheral nerve of the upper limb. DOID:1844 http://purl.obolibrary.org/obo/MONDO_0002130 mononeuritis of upper limb|mononeuritis upper limb|mononeuritis simplex of forelimb|forelimb mononeuritis simplex|mononeuritis of upper limb, unspecified MONDO:0004793 obsolete uterine corpus cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004793 MONDO:0004792 cancer of isthmus of fallopian tube biolink:Disease mondo DOID:9459|ICD9:182.1 A cancer that involves the UBERON:0016632. DOID:9459 http://purl.obolibrary.org/obo/MONDO_0004792 isthmus of fallopian tube cancer|cancer of isthmus of fallopian tube|malignant neoplasm of isthmus of fallopian tube|malignant isthmus of fallopian tube neoplasm MONDO:0002131 jaw cancer biolink:Disease mondo MESH:D007573|DOID:1862|EFO:0007333 A malignant neoplasm involving the jaw skeleton MESH:D007573|DOID:1862 http://purl.obolibrary.org/obo/MONDO_0002131 malignant jaw skeleton neoplasm|neoplasm of jaw|cancer of jaw skeleton|jaw neoplasm|jaw skeleton cancer|malignant neoplasm of jaw skeleton MONDO:0004795 otitis externa biolink:Disease mondo NCIT:C3299|MESH:D010032|ICD10:H60|ICD9:380.1|COHD:380731|DOID:9463|SCTID:3135009|ICD9:380.10 Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. SNOMEDCT:3135009|MESH:D010032|DOID:9463|NCIT:C3299 http://purl.obolibrary.org/obo/MONDO_0004795 swimmer's Ear|outer Ear infection|external Ear infection|infectious otitis externa|swimmer's ear|otitis externa MONDO:0002132 skull cancer biolink:Disease mondo DOID:1863 A malignant neoplasm involving the skull. DOID:1863 http://purl.obolibrary.org/obo/MONDO_0002132 cancer of skull|skull cancer|malignant neoplasm of skull|malignant skull neoplasm MONDO:0004794 exposure keratitis biolink:Disease mondo UMLS:C0339295|COHD:379812|SCTID:14366000|ICD9:370.34|ICD10:H16.21|DOID:9461 UMLS:C0339295|DOID:9461|SNOMEDCT:14366000 http://purl.obolibrary.org/obo/MONDO_0004794 lagophthalmic keratitis|exposure keratoconjunctivitis GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus biolink:OntologyClass mondo Any positive regulation of transcription from RNA polymerase II promoter that is involved in cellular response to chemical stimulus. http://purl.obolibrary.org/obo/GO_1901522 upregulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of global transcription from Pol II promoter involved in cellular response to chemical stimulus|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|upregulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of transcription from Pol II promoter involved in cellular response to chemical stimulus|up regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus MONDO:0002133 chronic rheumatic pericarditis biolink:Disease mondo UMLS:C0155561|ICD10:I09.2|ICD9:393|SCTID:78069008|DOID:1869|COHD:321307 Chronic form of rheumatic pericarditis. SNOMEDCT:78069008|UMLS:C0155561|DOID:1869 http://purl.obolibrary.org/obo/MONDO_0002133 rheumatic pericarditis, chronic MONDO:0004791 obsolete lipid storage disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004791 GO:0047453 ATP-dependent NAD(P)H-hydrate dehydratase activity biolink:OntologyClass mondo Catalysis of the reaction: (6S)-6beta-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide + ATP = ADP + 3 H(+) + NADH + phosphate. http://purl.obolibrary.org/obo/GO_0047453 (6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase(ATP-hydrolysing; NADH-forming)|ATP-dependent H(4)NAD(P)OH dehydratase activity|reduced nicotinamide adenine dinucleotide hydrate dehydratase activity|ATP-dependent H4NAD(P)OH dehydratase activity|(6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase (ATP-hydrolysing) MONDO:0004790 fatty liver disease biolink:Disease mondo DOID:9452|ICD9:571.0|ICD10:K70.0|SCTID:197321007|ICD9:571.8|SCTID:371330000|EFO:0003934|MESH:D005234 A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis. MESH:D005234|DOID:9452|SNOMEDCT:371330000|SNOMEDCT:197321007 http://purl.obolibrary.org/obo/MONDO_0004790 steatosis of liver|alcoholic fatty liver|fatty liver|hepatic lipidosis|fatty change of liver MONDO:0014127 oculocutaneous albinism type 5 biolink:Disease mondo SCTID:722057000|OMIM:615312|UMLS:CN204842|DOID:0070099|ICD10:E70.3|Orphanet:370091 Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered. SNOMEDCT:722057000|ORPHA:370091|DOID:0070099|http://identifiers.org/omim/615312|UMLS:CN204842 http://purl.obolibrary.org/obo/MONDO_0014127 OCA5|albinism, oculocutaneous, type V; OCA5|albinism, oculocutaneous, type V|oculocutaneous albinism type V ordo_disease MONDO:0014126 Perrault syndrome 4 biolink:Disease mondo OMIM:615300|UMLS:C3809105 Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene. UMLS:C3809105|http://identifiers.org/omim/615300 http://purl.obolibrary.org/obo/MONDO_0014126 Perrault syndrome caused by mutation in LARS2|Perrault syndrome type 4|Perrault syndrome 4; PRLTS4|Perrault syndrome 4|PRLTS4|LARS2 Perrault syndrome MONDO:0014125 symphalangism, proximal, 1B biolink:Disease mondo OMIM:615298|UMLS:C3809104 Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene. UMLS:C3809104|http://identifiers.org/omim/615298 http://purl.obolibrary.org/obo/MONDO_0014125 symphalangism, proximal, 1B|proximal symphalangism (disease) caused by mutation in GDF5|symphalangism, proximal, type 1B|symphalangism, proximal, 1B; SYM1B|SYM1B|GDF5 proximal symphalangism (disease) MONDO:0014124 Adams-Oliver syndrome 4 biolink:Disease mondo UMLS:C3809092|OMIM:615297 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene. UMLS:C3809092|http://identifiers.org/omim/615297 http://purl.obolibrary.org/obo/MONDO_0014124 AOS4|Adams-Oliver syndrome caused by mutation in EOGT|Adams-Oliver syndrome 4; AOS4|EOGT Adams-Oliver syndrome|Adams-Oliver syndrome type 4|Adams-Oliver syndrome 4 MONDO:0016786 partial hydatidiform mole biolink:Disease mondo ICDO:9103/0|ONCOTREE:PHM|UMLS:C0334529|Orphanet:254693|NCIT:C4293|SCTID:237250000|ICD10:O01.1 Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage. ORPHA:254693|SNOMEDCT:237250000|NCIT:C4293|UMLS:C0334529 http://purl.obolibrary.org/obo/MONDO_0016786 PHM|incomplete hydatid Mole|incomplete hydatidiform mole|partial Mole|partial hydatid Mole|partial molar pregnancy|incomplete molar pregnancy ordo_clinical_subtype MONDO:0016787 epithelioid trophoblastic tumor biolink:Disease mondo UMLS:C1266159|Orphanet:254698|ICD10:D39.2|ONCOTREE:ETT|ICDO:9105/3|DOID:3593|SCTID:609515005|NCIT:C6900 An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy. UMLS:C1266159|ORPHA:254698|DOID:3593|SNOMEDCT:609515005|NCIT:C6900 http://purl.obolibrary.org/obo/MONDO_0016787 ETT|epithelioid trophoblastic tumor ordo_disease MONDO:0014129 autosomal recessive limb-girdle muscular dystrophy type 2R biolink:Disease mondo UMLS:C3809137|OMIM:615325|ICD10:G71.0|Orphanet:363543|DOID:0110286 Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported. ORPHA:363543|UMLS:C3809137|DOID:0110286|http://identifiers.org/omim/615325 http://purl.obolibrary.org/obo/MONDO_0014129 DES autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES|muscular dystrophy, limb-girdle, type 2R; LGMD2R|autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|LGMD2R|muscular dystrophy, limb-girdle, type 2R ordo_disease MONDO:0016788 genetic hyperferritinemia without iron overload biolink:Disease mondo SCTID:766929007|Orphanet:254704 Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. ORPHA:254704|SNOMEDCT:766929007 http://purl.obolibrary.org/obo/MONDO_0016788 benign hyperferritinemia ordo_biological_anomaly MONDO:0016789 pyruvate metabolism disorder biolink:Disease mondo UMLS:CN226999|Orphanet:254746|ICD10:E74.4 An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process. UMLS:CN226999|ORPHA:254746 http://purl.obolibrary.org/obo/MONDO_0016789 inborn pyruvate metabolic process disorder|inborn error of pyruvate metabolic process|rare inborn error of pyruvate metabolic process|rare inborn error of pyruvate metabolic process ordo_group_of_disorders MONDO:0014128 craniosynostosis 3 biolink:Disease mondo OMIM:615314|UMLS:C3715051 Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene. http://identifiers.org/omim/615314|UMLS:C3715051 http://purl.obolibrary.org/obo/MONDO_0014128 CRS3|craniosynostosis 3|TCF12 craniosynostosis|craniosynostosis 3; CRS3|craniosynostosis caused by mutation in TCF12|craniosynostosis type 3 MONDO:0016782 paternal 14q32.2 hypomethylation syndrome biolink:Disease mondo Orphanet:254531|UMLS:CN202038 ORPHA:254531|UMLS:CN202038 http://purl.obolibrary.org/obo/MONDO_0016782 ordo_etiological_subtype MONDO:0016783 maternal 14q32.2 hypermethylation syndrome biolink:Disease mondo ICD10:Q99.8|UMLS:CN202039|Orphanet:254534 ORPHA:254534|UMLS:CN202039 http://purl.obolibrary.org/obo/MONDO_0016783 ordo_etiological_subtype MONDO:0016784 gestational trophoblastic disease biolink:Disease mondo ONCOTREE:GTD|Orphanet:254685|ICD9:631|SCTID:416402001 SNOMEDCT:416402001|ORPHA:254685|UMLS:C2931618 http://purl.obolibrary.org/obo/MONDO_0016784 ordo_group_of_disorders MONDO:0016785 complete hydatidiform mole biolink:Disease mondo NCIT:C4871|ONCOTREE:CHM|SCTID:237249000|UMLS:C0678213|ICD10:O01.0|Orphanet:254688 Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma. SNOMEDCT:237249000|ORPHA:254688|UMLS:C0678213|NCIT:C4871 http://purl.obolibrary.org/obo/MONDO_0016785 complete Mole|complete hydatid Mole|complete molar pregnancy|classical hydatidiform Mole ordo_clinical_subtype MONDO:0014123 primary ciliary dyskinesia 21 biolink:Disease mondo ICD10:Q34.8|DOID:0110596|UMLS:C3809087|OMIM:615294 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene. UMLS:C3809087|DOID:0110596|http://identifiers.org/omim/615294 http://purl.obolibrary.org/obo/MONDO_0014123 ciliary dyskinesia, primary, 21; CILD21|CILD21|ciliary dyskinesia, primary, type 21|DRC1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 21|primary ciliary dyskinesia 21 without situs inversus|primary ciliary dyskinesia type 21|primary ciliary dyskinesia caused by mutation in DRC1|ciliary dyskinesia, primary, 21, without situs inversus MONDO:0014122 myofibromatosis, infantile, 2 biolink:Disease mondo UMLS:C3809084|OMIM:615293 Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene. UMLS:C3809084|http://identifiers.org/omim/615293 http://purl.obolibrary.org/obo/MONDO_0014122 myofibromatosis caused by mutation in NOTCH3|myofibromatosis, infantile, type 2|myofibromatosis, infantile, 2|NOTCH3 myofibromatosis|IMF2|myofibromatosis, infantile, 2; IMF2 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures biolink:Disease mondo UMLS:C3809049|ICD10:G12.1|GARD:0013222|Orphanet:363454|OMIM:615290 UMLS:C3809049|http://identifiers.org/omim/615290|ORPHA:363454 http://purl.obolibrary.org/obo/MONDO_0014121 spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant|spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant; SMALED2|autosomal dominant spinal muscular atrophy, lower extremity-predominant 2|SMALED2|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures|spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant ordo_clinical_subtype MONDO:0016780 paternal 14q32.2 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|UMLS:CN202036|Orphanet:254525 ORPHA:254525|UMLS:CN202036 http://purl.obolibrary.org/obo/MONDO_0016780 paternal monosomy 14q32.2|paternal del(14)(q32.2) ordo_etiological_subtype MONDO:0016781 maternal 14q32.2 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|Orphanet:254528|UMLS:CN202037 ORPHA:254528|UMLS:CN202037 http://purl.obolibrary.org/obo/MONDO_0016781 maternal del(14)(q32.2)|maternal monosomy 14q32.2 ordo_etiological_subtype MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 biolink:Disease mondo UMLS:C3809042|OMIM:615287 UMLS:C3809042|http://identifiers.org/omim/615287 http://purl.obolibrary.org/obo/MONDO_0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13; MDDGA13|MDDGA13|Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related MONDO:0002149 reproductive system cancer biolink:Disease mondo DOID:193|NCIT:C36076|UMLS:C1334618 A malignant neoplasm involving the reproductive organ DOID:193|NCIT:C36076|UMLS:C1334618 http://purl.obolibrary.org/obo/MONDO_0002149 cancer of reproductive system|malignant reproductive organ neoplasm|cancer of reproductive system|cancer of reproductive organ|reproductive system cancer|malignant reproductive system neoplasm|malignant neoplasm of reproductive system|reproductive organ cancer|malignant neoplasm of reproductive organ|reproductive tumor SO:0000110 sequence_feature biolink:SequenceFeature mondo Any extent of continuous biological sequence. http://purl.obolibrary.org/obo/SO_0000110 INSDC_note:other|INSDC_feature:misc_feature|sequence feature|located_sequence_feature|located sequence feature|INSDC_note:sequence_feature MONDO:0002145 sex differentiation disease biolink:Disease mondo Orphanet:90771|GTR:AN1172969|SCTID:39179006|NCIT:C103186|UMLS:CN757797|MedDRA:10070597|DOID:1923|MESH:D012734 A congenital disorder characterized by abnormalities in the development of the sexual characteristics. SNOMEDCT:39179006|NCIT:C103186|ORPHA:90771|MESH:D012734|UMLS:C0036875|DOID:1923|UMLS:CN757797|MEDDRA:10070597 http://purl.obolibrary.org/obo/MONDO_0002145 disorder of sex differentiation|conditions affecting reproductive development|differences of Sex development|disorders of sex development (DSD)|sexual differentiation disorder|disorder of sex differentiation|intersex conditions|DSD|intersex|disorder of sex development|disorder of sexual differentiation|sex differentiation disorder|CARD|disorders of Sex development ordo_group_of_disorders MONDO:0002146 hypogonadism biolink:Disease mondo SCTID:48130008|NCIT:C9227|MESH:D007006|DOID:1924|ICD9:253.4|UMLS:C0020619 A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. NCIT:C9227|SNOMEDCT:48130008|MESH:D007006|DOID:1924|UMLS:C0020619 http://purl.obolibrary.org/obo/MONDO_0002146 gonadotropin deficiency|hypogonadotropism CHEBI:24734 hydroxyphenylalanine biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_24734 MONDO:0002147 obsolete Coffin-Siris syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002147 MONDO:0002148 obsolete sphingolipidosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002148 GO:1901534 positive regulation of hematopoietic progenitor cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation. http://purl.obolibrary.org/obo/GO_1901534 up regulation of hemopoietic progenitor cell differentiation|activation of hemopoietic progenitor cell differentiation|up regulation of hematopoietic progenitor cell differentiation|positive regulation of hemopoietic progenitor cell differentiation|up-regulation of haemopoietic progenitor cell differentiation|activation of haematopoietic progenitor cell differentiation|upregulation of haematopoietic progenitor cell differentiation|upregulation of hemopoietic progenitor cell differentiation|upregulation of hematopoietic progenitor cell differentiation|activation of hematopoietic progenitor cell differentiation|activation of haemopoietic progenitor cell differentiation|upregulation of haemopoietic progenitor cell differentiation|positive regulation of haematopoietic progenitor cell differentiation|up regulation of haematopoietic progenitor cell differentiation|positive regulation of haemopoietic progenitor cell differentiation|up-regulation of hemopoietic progenitor cell differentiation|up-regulation of hematopoietic progenitor cell differentiation|up regulation of haemopoietic progenitor cell differentiation|up-regulation of haematopoietic progenitor cell differentiation MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma biolink:Disease mondo SCTID:404014008|DOID:1906|ICD9:171.9|NCIT:C5576|EFO:1000212|UMLS:C1275254 An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm. SNOMEDCT:404014008|UMLS:C1275254|NCIT:C5576|DOID:1906 http://purl.obolibrary.org/obo/MONDO_0002141 cutaneous unclassified pleomorphic sarcoma|malignant skin fibrous histiocytoma|cutaneous undifferentiated pleomorphic sarcoma|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "MFH")|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "malignant fibrous histiocytoma")|zone of skin undifferentiated pleomorphic sarcoma|cutaneous malignant fibrous histiocytoma|malignant cutaneous fibrous histiocytoma|vaginal melanoma|undifferentiated pleomorphic sarcoma of zone of skin|malignant fibrous histiocytoma of skin|malignant fibrous histiocytoma of the skin|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous) MONDO:0002142 undifferentiated pleomorphic sarcoma biolink:Disease mondo MESH:D051677|ICDO:8830/3|DOID:1907|ICD10:C49.9|GARD:0006963|Orphanet:2023|SCTID:443439001|HGNC:16982|ONCOTREE:MFH|NCIT:C4247|ICD9:171.9|EFO:1001972|NCIT:C114541|MedDRA:10025552 An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. NCIT:C114541|MESH:D051677|NCIT:C4247|DOID:1907|SNOMEDCT:443439001|UMLS:C0334463|MEDDRA:10025552|ORPHA:2023 http://purl.obolibrary.org/obo/MONDO_0002142 Storiform-pleomorphic MFH|undifferentiated pleomorphic soft tissue sarcoma|adult unclassified pleomorphic sarcoma|MFH|malignant fibroxanthoma|adult undifferentiated pleomorphic sarcoma|fibrous histiocytoma, malignant (morphologic abnormality)|Unclassified Pleomorphic sarcoma (formerly "MFH")|malignant fibrohistiocytic tumors|histiocytoma, fibrous, malignant|malignant fibrous histiocytoma|Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma")|UPS|undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma|malignant fibrous histiocytoma of soft tissue and bone|fibrous histiocytoma, malignant|fibroxanthosarcoma|malignant fibrous histiocytoma of the soft tissue and bone|adult malignant fibrous histiocytoma|fibroxanthosarcoma (morphologic abnormality)|malignant fibrous cytoma|Storiform-pleomorphic malignant fibrous histiocytoma|unclassified pleomorphic sarcoma|undifferentiated pleomorphic sarcoma|Storiform-pleomorphic fibrous histiocytoma ordo_disease|gard_rare MONDO:0002143 vaginal yolk sac tumor biolink:Disease mondo NCIT:C6379|ONCOTREE:VYST|UMLS:C1336945|DOID:1910 A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge. NCIT:C6379|DOID:1910|UMLS:C1336945 http://purl.obolibrary.org/obo/MONDO_0002143 yolk sac tumor|vaginal endodermal sinus neoplasm|vaginal endodermal sinus tumor|vaginal yolk Sac neoplasm|vaginal yolk Sac tumor GO:1901532 regulation of hematopoietic progenitor cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation. http://purl.obolibrary.org/obo/GO_1901532 regulation of haematopoietic progenitor cell differentiation|regulation of haemopoietic progenitor cell differentiation|regulation of hemopoietic progenitor cell differentiation MONDO:0002144 obsolete hyperuricemia (disease) biolink:Disease mondo EFO:0009104|MESH:D033461|ICD9:790.6|DOID:1920|SCTID:35885006|UMLS:C0740394 UMLS:C0740394|SNOMEDCT:35885006|DOID:1920|MESH:D033461|NCIT:C3961 http://purl.obolibrary.org/obo/MONDO_0002144 hyperuricemia|blood urate raized|uricacidemia GO:1901533 negative regulation of hematopoietic progenitor cell differentiation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation. http://purl.obolibrary.org/obo/GO_1901533 downregulation of haemopoietic progenitor cell differentiation|down regulation of haematopoietic progenitor cell differentiation|inhibition of hematopoietic progenitor cell differentiation|down regulation of haemopoietic progenitor cell differentiation|down-regulation of hemopoietic progenitor cell differentiation|negative regulation of hemopoietic progenitor cell differentiation|negative regulation of haematopoietic progenitor cell differentiation|down-regulation of haematopoietic progenitor cell differentiation|down-regulation of hematopoietic progenitor cell differentiation|down regulation of hemopoietic progenitor cell differentiation|down-regulation of haemopoietic progenitor cell differentiation|negative regulation of haemopoietic progenitor cell differentiation|inhibition of haematopoietic progenitor cell differentiation|down regulation of hematopoietic progenitor cell differentiation|inhibition of hemopoietic progenitor cell differentiation|downregulation of hemopoietic progenitor cell differentiation|inhibition of haemopoietic progenitor cell differentiation|downregulation of haematopoietic progenitor cell differentiation|downregulation of hematopoietic progenitor cell differentiation MONDO:0002140 vagina sarcoma biolink:Disease mondo DOID:1901|UMLS:C0238519|NCIT:C7737 A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma. NCIT:C7737|DOID:1901|UMLS:C0238519 http://purl.obolibrary.org/obo/MONDO_0002140 sarcoma of the vagina|sarcoma of vagina|vaginal sarcoma|vagina sarcoma MONDO:0014116 complex cortical dysplasia with other brain malformations 2 biolink:Disease mondo DOID:0090133|OMIM:615282|UMLS:C3809013 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene. UMLS:C3809013|DOID:0090133|http://identifiers.org/omim/615282 http://purl.obolibrary.org/obo/MONDO_0014116 complex cortical dysplasia with other brain malformations type 2|KIF5C complex cortical dysplasia with other brain malformations|CDCBM2|cortical dysplasia, complex, with other brain malformations 2; CDCBM2|cortical dysplasia, complex, with other brain malformations 2|complex cortical dysplasia with other brain malformations caused by mutation in KIF5C|cortical dysplasia, Complex, with Other brain malformations type 2 MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect biolink:Disease mondo Orphanet:254519 Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. ORPHA:254519 http://purl.obolibrary.org/obo/MONDO_0016779 MCA due to 14q32.2 maternally expressed gene defect ordo_malformation_syndrome MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity biolink:Disease mondo UMLS:C3809008|Orphanet:363412|OMIM:615281|ICD10:E75.2 ORPHA:363412|UMLS:C3809008|http://identifiers.org/omim/615281 http://purl.obolibrary.org/obo/MONDO_0014115 HBSL|hypomyelination with brainstem and spinal cord involvement and leg spasticity|aspartyl-tRNA synthetase deficiency|hypomyelination with brainstem and spinal cord involvement and leg spasticity; HBSL ordo_disease MONDO:0014114 cardiofaciocutaneous syndrome 4 biolink:Disease mondo OMIM:615280|UMLS:C3809007 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene. UMLS:C3809007|http://identifiers.org/omim/615280 http://purl.obolibrary.org/obo/MONDO_0014114 cardiofaciocutaneous syndrome 4; CFC4|cardiofaciocutaneous syndrome caused by mutation in MAP2K2|CFC4|MAP2K2 cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 4|cardiofaciocutaneous syndrome type 4 MONDO:0014113 cardiofaciocutaneous syndrome 3 biolink:Disease mondo UMLS:C3809006|OMIM:615279 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene. UMLS:C3809006|http://identifiers.org/omim/615279 http://purl.obolibrary.org/obo/MONDO_0014113 cardiofaciocutaneous syndrome caused by mutation in MAP2K1|cardiofaciocutaneous syndrome 3|cardiofaciocutaneous syndrome type 3|MAP2K1 cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 3; CFC3|CFC3 MONDO:0016775 lichen planus pemphigoides biolink:Disease mondo UMLS:C0406369|Orphanet:254478|GARD:0012677|SCTID:238653005|ICD10:L43.8 Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid. UMLS:C0406369|ORPHA:254478|SNOMEDCT:238653005 http://purl.obolibrary.org/obo/MONDO_0016775 LP pemphigoides ordo_disease|gard_rare MONDO:0016776 frontal fibrosing alopecia biolink:Disease mondo UMLS:C4255374|GARD:0010886|SCTID:717055000|ICD10:L66.1|Orphanet:254492 Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp. UMLS:C4255374|ORPHA:254492|SNOMEDCT:717055000|UMLS:C1274700 http://purl.obolibrary.org/obo/MONDO_0016776 FFA gard_rare|ordo_disease MONDO:0014119 intellectual disability-strabismus syndrome biolink:Disease mondo ICD10:H50.8|OMIM:615286|Orphanet:363528|UMLS:C3809039 ORPHA:363528|UMLS:C3809039|http://identifiers.org/omim/615286 http://purl.obolibrary.org/obo/MONDO_0014119 mental retardation, autosomal recessive type 36|mental retardation, autosomal recessive 36|MRT36|mental retardation, autosomal recessive 36; MRT36|intellectual disability, autosomal recessive type 36|intellectual disability, autosomal recessive 36|intellectual disability, autosomal recessive 36; MRT36 ordo_disease MONDO:0016777 inhalational botulism biolink:Disease mondo SCTID:409562009|ICD10:A05.1|UMLS:C1443900|Orphanet:254504 Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). ORPHA:254504|SNOMEDCT:409562009|UMLS:C1443900 http://purl.obolibrary.org/obo/MONDO_0016777 inhalation botulism ordo_clinical_subtype MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome biolink:Disease mondo ICD10:D70|UMLS:C3809031|Orphanet:369852|OMIM:615285 UMLS:C3809031|ORPHA:369852|http://identifiers.org/omim/615285 http://purl.obolibrary.org/obo/MONDO_0014118 neutropenia, severe congenital, 5, autosomal recessive; SCN5|SCN5|neutropenia, severe congenital, 5, autosomal recessive|vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome ordo_disease MONDO:0016778 iatrogenic botulism biolink:Disease mondo NCIT:C128345|UMLS:C4288922|Orphanet:254509|ICD10:A05.1 Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use. ORPHA:254509|NCIT:C128345|UMLS:C4288922 http://purl.obolibrary.org/obo/MONDO_0016778 inadvertent botulism|accidental botulism ordo_clinical_subtype MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 biolink:Disease mondo DOID:0110194|Orphanet:363981|OMIM:615284|UMLS:C3695063|ICD10:G60.0|SCTID:763345008 Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). ORPHA:363981|DOID:0110194|SNOMEDCT:763345008|http://identifiers.org/omim/615284|UMLS:C3695063 http://purl.obolibrary.org/obo/MONDO_0014117 Charcot-Marie-Tooth disease, type 4B3|Charcot-Marie-Tooth disease, type 4B3; CMT4B3|CMT4B3|SBF1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1|Charcot-Marie-Tooth disease with focally folded myelin ordo_disease MONDO:0016771 annular atrophic lichen planus biolink:Disease mondo Orphanet:254411|GARD:0012676|SCTID:720493003|ICD10:L43.8|UMLS:C4304037 Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion. ORPHA:254411|SNOMEDCT:720493003|UMLS:C4304037 http://purl.obolibrary.org/obo/MONDO_0016771 annular atrophic LP gard_rare|ordo_disease MONDO:0016772 annular lichen planus biolink:Disease mondo Orphanet:254424|UMLS:C0406363|GARD:0012674|SCTID:201000006|ICD10:L43.8 Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions. ORPHA:254424|SNOMEDCT:201000006|UMLS:C0406363 http://purl.obolibrary.org/obo/MONDO_0016772 annular LP gard_rare|ordo_disease GO:0060429 epithelium development biolink:OntologyClass mondo The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. http://purl.obolibrary.org/obo/GO_0060429 MONDO:0016773 atrophic lichen planus biolink:Disease mondo MedDRA:10056959|UMLS:C0023647|GARD:0012675|ICD10:L43.8|NCIT:C34777|Orphanet:254449|SCTID:25858008 Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center. NCIT:C34777|ORPHA:254449|UMLS:C0023647|MEDDRA:10056959|SNOMEDCT:25858008 http://purl.obolibrary.org/obo/MONDO_0016773 atrophic LP gard_rare|ordo_disease OIO:hasBroadSynonym has_broad_synonym biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym MONDO:0016774 lichen planus pigmentosus biolink:Disease mondo SCTID:717061002|UMLS:C0406366|ICD10:L43.8|Orphanet:254463|GARD:0010816 Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. ORPHA:254463|SNOMEDCT:717061002|UMLS:C0406366 http://purl.obolibrary.org/obo/MONDO_0016774 LP pigmentosus|LP pigmentosa|lichen planus pigmentosus inversus|lichen planus pigmentosa gard_rare|ordo_disease MONDO:0014112 cardiofaciocutaneous syndrome 2 biolink:Disease mondo UMLS:C3809005|OMIM:615278 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene. UMLS:C3809005|http://identifiers.org/omim/615278 http://purl.obolibrary.org/obo/MONDO_0014112 cardiofaciocutaneous syndrome 2|cardiofaciocutaneous syndrome type 2|cardiofaciocutaneous syndrome caused by mutation in kras|cardiofaciocutaneous syndrome caused by mutation in KRAS|KRAS cardiofaciocutaneous syndrome|kras cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 2; CFC2|CFC2 MONDO:0014111 cataract 19 multiple types biolink:Disease mondo UMLS:C3809004|ICD10:Q12.0|OMIM:615277|DOID:0110263 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene. UMLS:C3809004|DOID:0110263|http://identifiers.org/omim/615277 http://purl.obolibrary.org/obo/MONDO_0014111 CTRCT19|cataract type 19|LIM2 early-onset non-syndromic cataract|cataract 19, multiple types; CTRCT19|cataract 19, multiple types|early-onset non-syndromic cataract caused by mutation in LIM2|cataract 19; CTRCT19|cataract 19 MONDO:0014110 cataract 15 multiple types biolink:Disease mondo OMIM:615274|ICD10:Q12.0|DOID:0110251|UMLS:C3809001 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene. DOID:0110251|UMLS:C3809001|http://identifiers.org/omim/615274 http://purl.obolibrary.org/obo/MONDO_0014110 cataract 15, multiple types|early-onset non-syndromic cataract caused by mutation in MIP|MIP early-onset non-syndromic cataract|cataract 15, multiple types; CTRCT15|CTRCT15 MONDO:0016770 actinic lichen planus biolink:Disease mondo UMLS:C0406365|SCTID:200999007|GARD:0012673|Orphanet:254395|ICD10:L43.8 Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions. ORPHA:254395|UMLS:C0406365|SNOMEDCT:200999007 http://purl.obolibrary.org/obo/MONDO_0016770 summertime actinic lichenoid eruption|lichen planus tropicus|lichenoid melanodermatitis|actinic LP|lichen planus subtropicus|lichen planus actinus ordo_disease|gard_rare MONDO:0004779 epididymitis (disease) biolink:Disease mondo MESH:D004823|HP:0000031|UMLS:C0014534|SCTID:31070006|DOID:9402|ICD10:N45.1|NCIT:C12328 Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord. NCIT:C12328|MESH:D004823|UMLS:C0014534|SNOMEDCT:31070006|DOID:9402 http://purl.obolibrary.org/obo/MONDO_0004779 epididymal|epididymitis|epididymis MONDO:0002116 malignant exocrine pancreas neoplasm biolink:Disease mondo SCTID:255088001|UMLS:C0346648|DOID:1795|NCIT:C7430 A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. UMLS:C0346648|SNOMEDCT:255088001|NCIT:C7430|DOID:1795 http://purl.obolibrary.org/obo/MONDO_0002116 cancer of exocrine pancreas|malignant neoplasm of exocrine pancreas|tumor of exocrine pancreas|malignant neoplasm of the exocrine pancreas|malignant exocrine pancreas neoplasm|malignant exocrine pancreas tumor|pancreatic exocrine tumor|malignant tumor of the exocrine pancreas|exocrine pancreas cancer|malignant tumor of exocrine pancreas NCBITaxon:153136 Deltaretrovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_153136 MONDO:0004778 epididymo-orchitis biolink:Disease mondo ICD9:604|ICD10:N45|ICD10:N45.3|ICD9:604.90|UMLS:C0149881|SCTID:197983000|DOID:9401 A disorder involving inflammation of the epididymis and testes. UMLS:C0149881|SNOMEDCT:197983000|DOID:9401 http://purl.obolibrary.org/obo/MONDO_0004778 MONDO:0002117 pancreas sarcoma biolink:Disease mondo DOID:1796|NCIT:C5715|UMLS:C1096346 A rare malignant soft tissue neoplasm that occurs primarily in the pancreas. DOID:1796|NCIT:C5715|UMLS:C1096346 http://purl.obolibrary.org/obo/MONDO_0002117 sarcoma of pancreas|pancreas sarcoma|pancreatic sarcoma|sarcoma of the pancreas NCBITaxon:33154 Opisthokonta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33154 opisthokonts|Fungi/Metazoa group MONDO:0002118 urinary system disease biolink:Disease mondo DOID:18|UMLS:C1335051|NCIT:C3430|ICD9:V47.4|MESH:D014570|SCTID:128606002 A disease involving the renal system. UMLS:C1335051|DOID:18|NCIT:C3430|MESH:D014570|SNOMEDCT:128606002 http://purl.obolibrary.org/obo/MONDO_0002118 renal system disease|urinary tract diseases|disease, urologic|urinary system disease|urological disorders|urological disorder|disease, urinary tract|urinary disease|urologic disease|urinary system disorder|disease, urological|diseases, urologic|disorder of the urinary system|renal system disease or disorder|urinary tract disorder|disorder of renal system|urologic disorder|urological disease|disorder of urinary system|non-neoplastic urinary tract disease|diseases, urological|disease of renal system|renal disease|urological diseases|disease or disorder of renal system|disorder of renal system|urinary tract disease|diseases, urinary tract MONDO:0002119 ossifying fibroma (disease) biolink:Disease mondo ICDO:9274/0|UMLS:C0206640|ICDO:9262/0|MESH:D018214|NCIT:C8422|HP:0030426|DOID:180|EFO:0007412|GARD:0012792 A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated. DOID:180|NCIT:C8422|UMLS:C0206640|MESH:D018214 http://purl.obolibrary.org/obo/MONDO_0002119 peripheral ossifying fibroma|fibroma, ossifying, benign|cemento-ossifying fibroma|Cementifying fibroma|juvenile ossifying fibroma|ossifying fibroma|fibro-osteoma MONDO:0028743 dysostosis with brachydactyly with extraskeletal manifestations biolink:Disease mondo Orphanet:498454 ORPHA:498454 http://purl.obolibrary.org/obo/MONDO_0028743 ordo_group_of_disorders MONDO:0002112 benign peritoneal mesothelioma biolink:Disease mondo DOID:1789|NCIT:C7354 A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent. NCIT:C7354|DOID:1789 http://purl.obolibrary.org/obo/MONDO_0002112 peritoneal adenomatoid tumor|peritoneum benign mesothelioma|mesothelioma of peritoneum MONDO:0004775 lens-induced iridocyclitis biolink:Disease mondo ICD9:364.23|SCTID:70461003|ICD10:H20.2|DOID:9388|UMLS:C0339320|COHD:438751 UMLS:C0339320|SNOMEDCT:70461003|DOID:9388 http://purl.obolibrary.org/obo/MONDO_0004775 lens-induced iridocyclitis MONDO:0002113 peritoneal carcinoma biolink:Disease mondo SCTID:447781009|DOID:1791 A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement. DOID:1791|SNOMEDCT:447781009 http://purl.obolibrary.org/obo/MONDO_0002113 primary peritoneal carcinoma|carcinoma of peritoneum|peritoneum carcinoma MONDO:0004774 gonococcal iridocyclitis biolink:Disease mondo DOID:9384|ICD10:A54.32|SCTID:9091006|UMLS:C0153212|ICD9:098.41 An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae. SNOMEDCT:9091006|DOID:9384|UMLS:C0153212 http://purl.obolibrary.org/obo/MONDO_0004774 Neisseria gonorrhoeae iridocyclitis (disease)|Neisseria gonorrhoeae caused iridocyclitis (disease) MONDO:0004777 acute laryngitis biolink:Disease mondo DOID:9396|ICD9:464.0|ICD10:J04.0|ICD9:464.00|ICD9:464.01|SCTID:6655004|NCIT:C26688|COHD:30133|UMLS:C0001327 An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. SNOMEDCT:6655004|UMLS:C0001327|DOID:9396|NCIT:C26688 http://purl.obolibrary.org/obo/MONDO_0004777 laryngitis|laryngitis, acute MONDO:0002114 pancreas lymphoma biolink:Disease mondo DOID:1792|UMLS:C1335307|NCIT:C5714 A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas. DOID:1792|UMLS:C1335307|NCIT:C5714 http://purl.obolibrary.org/obo/MONDO_0002114 pancreas lymphoma|lymphoma of the pancreas|lymphoma of pancreas|pancreatic lymphoma MONDO:0004776 obsolete infectious anterior uveitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004776 MONDO:0002115 obsolete pancreatic cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002115 MONDO:0004771 Fuchs' heterochromic uveitis biolink:Disease mondo ICD9:364.21|SCTID:11226001|UMLS:C0016782|ICD10:H20.81|DOID:9375 A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. SNOMEDCT:11226001|DOID:9375|UMLS:C0016782 http://purl.obolibrary.org/obo/MONDO_0004771 Fuchs uveitis syndrome|Fuch's heterochromic iridocyclitis|Fuchs' heterochromic cyclitis MONDO:0004770 exophthalmos (disease) biolink:Disease mondo ICD9:376.30|DOID:9370|MESH:D005094|COHD:436700|HP:0000520|ICD10:H05.20|SCTID:18265008|UMLS:C0015300|NCIT:C118763 The anterior displacement of the eye within the orbit, giving a bulging appearance. SNOMEDCT:18265008|NCIT:C118763|NCIT:C87114|MESH:D005094|DOID:9370|UMLS:C0015300 http://purl.obolibrary.org/obo/MONDO_0004770 proptosis|exophthalmos MONDO:0002110 adrenal rest tumor biolink:Disease mondo EFO:1000798|DOID:1786|MESH:D000314|NCIT:C2860|UMLS:C0001630|ICDO:8671/0 A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia. NCIT:C2860|MESH:D000314|UMLS:C0001630|DOID:1786 http://purl.obolibrary.org/obo/MONDO_0002110 adrenal rest neoplasm|adrenal rest tumor MONDO:0004773 iridocyclitis (disease) biolink:Disease mondo ICD10:H20.01|DOID:9383|ICD9:364.2|HP:0001094|ICD9:364.01|UMLS:C0022073|ICD9:364.3|SCTID:77971008|NCIT:C34736 An inflammation of the iris and the ciliary body SNOMEDCT:77971008|NCIT:C34736|UMLS:C0022073|DOID:9383 http://purl.obolibrary.org/obo/MONDO_0004773 primary iridocyclitis|iridocyclitis MONDO:0004772 glaucomatocyclitic crisis biolink:Disease mondo ICD9:364.22|UMLS:C0152138|DOID:9378|SCTID:29538005 SNOMEDCT:29538005|DOID:9378|UMLS:C0152138 http://purl.obolibrary.org/obo/MONDO_0004772 Posner-Schlossman syndrome|Terrien-Viel syndrome MONDO:0002111 obsolete peritoneal mesothelioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002111 MONDO:0028742 dysostosis with brachydactyly without extraskeletal manifestations biolink:Disease mondo Orphanet:498451 ORPHA:498451 http://purl.obolibrary.org/obo/MONDO_0028742 ordo_group_of_disorders MONDO:0028741 overgrowth or tall stature syndrome with skeletal involvement biolink:Disease mondo Orphanet:498448 ORPHA:498448 http://purl.obolibrary.org/obo/MONDO_0028741 ordo_group_of_disorders UBERON:0013399 blood vessel layer of choroid biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013399 vessel layer of choroid|lamina choroideae vasculosa|lamina vasculosa (choroid)|Sattler's layer|lamina vasculosa of choroid|Haller's layer|outer layer of choroid proper MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia biolink:Disease mondo DOID:0090090|ICD10:E23.0|UMLS:C3808981|OMIM:615269 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene. DOID:0090090|http://identifiers.org/omim/615269|UMLS:C3808981 http://purl.obolibrary.org/obo/MONDO_0014105 DUSP6 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 19 with or without anosmia|HH19|hypogonadotropic hypogonadism 19 with or without anosmia; HH19|hypogonadotropic hypogonadism caused by mutation in DUSP6 MONDO:0016768 rare mucosal lichen planus biolink:Disease mondo ICD10:L43.9|ICD10:L43.8|UMLS:CN226996|ICD10:L43.1|ICD10:L43.3|Orphanet:254373|ICD10:L43.2|ICD10:L43.0 UMLS:CN226996|ORPHA:254373 http://purl.obolibrary.org/obo/MONDO_0016768 rare mucosal LP obsoletion_candidate|ordo_group_of_disorders MONDO:0016769 linear lichen planus biolink:Disease mondo SCTID:44509000|ICD10:L43.8|GARD:0011898|Orphanet:254379|UMLS:C0023650 Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development. ORPHA:254379|SNOMEDCT:44509000|UMLS:C0023650 http://purl.obolibrary.org/obo/MONDO_0016769 Blaschkoid lichen planus|llp|Blaschkoid LP|linear LP ordo_disease|gard_rare MONDO:0014104 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 biolink:Disease mondo OMIM:615268|UMLS:C3808977 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene. http://identifiers.org/omim/615268|UMLS:C3808977 http://purl.obolibrary.org/obo/MONDO_0014104 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4|ATP8A2 dysequilibrium syndrome|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4; CAMRQ4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4; CAMRQ4|CAMRQ4|dysequilibrium syndrome caused by mutation in ATP8A2 MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia biolink:Disease mondo UMLS:C3808975|OMIM:615267|DOID:0090076|ICD10:E23.0 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene. DOID:0090076|http://identifiers.org/omim/615267|UMLS:C3808975 http://purl.obolibrary.org/obo/MONDO_0014103 IL17RD hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 18 with or without anosmia|hypogonadotropic hypogonadism 18 with or without anosmia; HH18|HH18|hypogonadotropic hypogonadism caused by mutation in IL17RD MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia biolink:Disease mondo UMLS:C3808971|DOID:0090079|OMIM:615266|ICD10:E23.0 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene. DOID:0090079|http://identifiers.org/omim/615266|UMLS:C3808971 http://purl.obolibrary.org/obo/MONDO_0014102 hypogonadotropic hypogonadism caused by mutation in SPRY4|hypogonadotropic hypogonadism 17 with or without anosmia|hypogonadotropic hypogonadism 17 with or without anosmia; HH17|HH17|SPRY4 hypogonadotropic hypogonadism MONDO:0016764 isolated anophthalmia-microphthalmia syndrome biolink:Disease mondo UMLS:CN202019|ICD10:Q11.2|ICD10:Q11.1|ICD10:Q11.0|Orphanet:2542|GARD:0012085 Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. ORPHA:2542|UMLS:CN202019 http://purl.obolibrary.org/obo/MONDO_0016764 nonsyndromic anophthalmia-microphthalmia syndrome|primitive anophthalmia|microphthalmia-anophthalmia-coloboma spectrum|MAC spectrum|isolated pure microphthalmia|isolated anophthalmia - microphthalmia|clinical anophthalmia ordo_group_of_disorders MONDO:0014109 NGLY1-deficiency biolink:Disease mondo DOID:0060728|OMIM:615273|NCIT:C126746|UMLS:C3808991|ICD10:E77.8|Orphanet:404454|GARD:0012315|SCTID:768846004 A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities. http://identifiers.org/omim/615273|SNOMEDCT:768846004|UMLS:C3808991|NCIT:C126746|ORPHA:404454|DOID:0060728 http://purl.obolibrary.org/obo/MONDO_0014109 alacrimia - choreoathetosis - liver dysfunction syndrome|congenital disorder of glycosylation, type IV, formerly|CDG IV|congenital disorder of deglycosylation|congenital disorder of glycosylation, type IV|congenital disorder of deglycosylation; CDDG|CDDG|NGLY1-CDDG|NGLY1 deficiency|congenital disorder of glycosylation type IV|congenital disorder of glycosylation type IV; CDG1V|congenital disorder of deglycosylation;CDDG|deficiency of N-glycanase 1|CDG IV, formerly clingen|ordo_disease GO:0060456 positive regulation of digestive system process biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/GO_0060456 MONDO:0016765 19p13.12 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|Orphanet:254346|SCTID:719597005|GARD:0010991|UMLS:CN202023|UMLS:C4304579 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. UMLS:C4304579|ORPHA:254346|SNOMEDCT:719597005|UMLS:CN202023 http://purl.obolibrary.org/obo/MONDO_0016765 monosomy 19p13.12|Del(19)(p13.12)|Chromosome19p13.12 microdeletion gard_rare|ordo_malformation_syndrome MONDO:0014108 Fanconi anemia complementation group Q biolink:Disease mondo DOID:0111093|UMLS:C3808988|OMIM:615272 Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. UMLS:C3808988|http://identifiers.org/omim/615272|DOID:0111093 http://purl.obolibrary.org/obo/MONDO_0014108 ERCC4 Fanconi anemia|Fanconi anemia, complementation group Q; FANCQ|Fanconi anemia, complementation group Q|Fanconi anemia caused by mutation in ERCC4|Fanconi anemia complementation group type Q|Fanconi Anemia, complementation group type Q|FANCQ GO:0060457 negative regulation of digestive system process biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/GO_0060457 MONDO:0016766 obsolete rare lichen planus biolink:Disease mondo Orphanet:254367|GARD:0012344 Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis. ORPHA:254367 http://purl.obolibrary.org/obo/MONDO_0016766 rare lichen planus|rare LP obsoletion_candidate|gard_rare|ordo_group_of_disorders MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia biolink:Disease mondo ICD10:E23.0|OMIM:615271|UMLS:C3808986|DOID:0090093 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene. UMLS:C3808986|DOID:0090093|http://identifiers.org/omim/615271 http://purl.obolibrary.org/obo/MONDO_0014107 hypogonadotropic hypogonadism 21 with or without anosmia; HH21|FLRT3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 21 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in FLRT3|HH21 MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia biolink:Disease mondo ICD10:E23.0|OMIM:615270|UMLS:C3808983|DOID:0090082 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene. UMLS:C3808983|DOID:0090082|http://identifiers.org/omim/615270 http://purl.obolibrary.org/obo/MONDO_0014106 hypogonadotropic hypogonadism 20 with or without anosmia; HH20|FGF17 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 20 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in FGF17|HH20 MONDO:0016767 cutaneous lichen planus biolink:Disease mondo ICD10:L43.3|ICD10:L43.2|ICD10:L66.1|ICD10:L43.1|ICD10:L43.0|UMLS:CN226995|ICD10:L43.9|Orphanet:254370|ICD10:L43.8 ORPHA:254370|UMLS:CN226995 http://purl.obolibrary.org/obo/MONDO_0016767 rare cutaneous lichen planus|rare cutaneous LP obsoletion_candidate|ordo_group_of_disorders MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type biolink:Disease mondo SCTID:715464002|MESH:C537539|ICD10:Q87.8|Orphanet:2528|GARD:0003627 Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. ORPHA:2528|MESH:C537539|MESH:C537536|SNOMEDCT:715464002|UMLS:C2931524|UMLS:C0796151 http://purl.obolibrary.org/obo/MONDO_0016760 microcephaly microcornea syndrome Seemanova type|X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation|Seemanova-Lesny syndrome|Seemanova Lesny syndrome gard_rare|ordo_malformation_syndrome MONDO:0016761 spondyloepiphyseal dysplasia biolink:Disease mondo ICD9:756.9|DOID:0080027|GARD:0007687|MedDRA:10062920|SCTID:254062008|Orphanet:253|ICD10:Q77.7|Orphanet:252 An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. DOID:0080027|UMLS:C0038015|ORPHA:252|ORPHA:253|SNOMEDCT:254062008|MEDDRA:10062920 http://purl.obolibrary.org/obo/MONDO_0016761 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia|spondylo-epi-(meta)-physeal dysplasia|SED and SEMD ordo_group_of_disorders MONDO:0016762 microcornea-corectopia-macular hypoplasia syndrome biolink:Disease mondo Orphanet:2535|GARD:0003636|ICD10:Q15.8|MESH:C537551|UMLS:C2931531 Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. ORPHA:2535|MESH:C537551|UMLS:C2931531 http://purl.obolibrary.org/obo/MONDO_0016762 microcornea corectopia macular hypoplasia ordo_malformation_syndrome MONDO:0016763 spondylometaphyseal dysplasia biolink:Disease mondo OMIMPS:184255|ICD10:Q77.8|DC:0000598|Orphanet:254 Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. ORPHA:254 http://purl.obolibrary.org/obo/MONDO_0016763 ordo_group_of_disorders MONDO:0002109 pituitary cancer biolink:Disease mondo UMLS:C0496842|SCTID:363482009|DOID:1785|NCIT:C4769|GARD:0009371|EFO:0005578|ICD10:C75.1 A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract. DOID:1785|NCIT:C4769|UMLS:C0496842|SNOMEDCT:363482009 http://purl.obolibrary.org/obo/MONDO_0002109 pituitary neoplasm|neoplasm of pituitary gland|malignant neoplasm of pituitary gland|malignant neoplasm of the pituitary gland|malignant pituitary gland neoplasm|malignant pituitary neoplasm|malignant pituitary gland tumor|malignant neoplasm of the pituitary|pituitary gland cancer|malignant neoplasm of pituitary|cancer of pituitary gland|malignant pituitary tumor|pituitary gland neoplasm|malignant tumor of the pituitary gland|malignant tumor of pituitary gland|malignant tumor of the pituitary|malignant tumor of pituitary|pituitary neoplasms, malignant|pituitary cancer|pituitary tumor, malignant MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 biolink:Disease mondo UMLS:C3808964|OMIM:615249 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene. http://identifiers.org/omim/615249|UMLS:C3808964 http://purl.obolibrary.org/obo/MONDO_0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; MDDGA12|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK|MDDGA12|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12|POMK muscular dystrophy-dystroglycanopathy, type A|Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related MONDO:0014100 dilated cardiomyopathy 1KK biolink:Disease mondo OMIM:615248|DOID:0110445|ICD10:I42.0 Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene. DOID:0110445|http://identifiers.org/omim/615248 http://purl.obolibrary.org/obo/MONDO_0014100 cardiomyopathy, dilated, 1KK; CMD1KK|dilated cardiomyopathy caused by mutation in MYPN|cardiomyopathy, familial restrictive, 4|cardiomyopathy, dilated, 1KK|MYPN dilated cardiomyopathy|cardiomyopathy, familial hypertrophic, 22|CMD1KK|dilated cardiomyopathy type 1KK|cardiomyopathy, dilated, type 1Kk clingen MONDO:0002127 urethral stricture (disease) biolink:Disease mondo MESH:D014525|ICD9:598.9|ICD9:598.8|HP:0012227|DOID:1829|COHD:195590|UMLS:C0041974|SCTID:76618002 Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms. MESH:D014525|SNOMEDCT:76618002|UMLS:C0041974|DOID:1829 http://purl.obolibrary.org/obo/MONDO_0002127 urethral stricture MONDO:0002128 mononeuritis multiplex biolink:Disease mondo DOID:1835|GARD:0007056|NCIT:C70938|UMLS:C0151295|COHD:376395|ICD10:G58.7|SCTID:30292005|ICD9:354.5 A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome. UMLS:C0151295|NCIT:C70938|SNOMEDCT:30292005|DOID:1835 http://purl.obolibrary.org/obo/MONDO_0002128 mononeuritis multiplex gard_rare MONDO:0004789 cholangitis biolink:Disease mondo NCIT:C26718|ICD9:576.1|UMLS:C0008311|MESH:D002761|ICD10:K83.0|DOID:9446|SCTID:82403002|COHD:195856 An acute or chronic inflammatory process affecting the biliary tract. MESH:D002761|UMLS:C0008311|DOID:9446|NCIT:C26718|SNOMEDCT:82403002 http://purl.obolibrary.org/obo/MONDO_0004789 biliary tree inflammation|inflammation of biliary tree|cholangitis|biliary tract infection MONDO:0002129 bone cancer biolink:Disease mondo MESH:D001859|ICD9:170.9|NCIT:C4016|DOID:184|CSP:2019-1041|SCTID:428281000|COHD:443564 A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. DOID:184|MESH:D001859|SNOMEDCT:428281000|NCIT:C4016 http://purl.obolibrary.org/obo/MONDO_0002129 cancer of skeletal element|bone cancer, NOS|cancer of bone|bone tumour|cancer of the bone|bone cancer|malignant bone tumour|malignant tumor of bone|malignant tumor of the bone|bone neoplasm|osseous cancer|CA - bone cancer|malignant osseous tumor|skeletal element cancer|malignant neoplasm of bone|malignant neoplasm of skeletal element|malignant bone tumor|neoplasm of bone|malignant neoplasm of the bone|malignant bone neoplasm|malignant skeletal element neoplasm|malignant osseous neoplasm|osseous tumor MONDO:0002123 calcinosis biolink:Disease mondo SCTID:6595006|DOID:182|MESH:D002114|NCIT:C3672|ICD9:275.49|EFO:0003837|HP:0003761 Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. NCIT:C3672|DOID:182|SNOMEDCT:6595006|MESH:D002114 http://purl.obolibrary.org/obo/MONDO_0002123 calcification|pathologic calcification|deposit(s), calcium|pathologically calcified structure|calcium deposit(s)|macrocalcification MONDO:0004786 chronic cholangitis biolink:Disease mondo DOID:9439|SCTID:71912000|NCIT:C35335|UMLS:C0267918 Cholangitis that is persistent and long-standing. NCIT:C35335|UMLS:C0267918|DOID:9439|SNOMEDCT:71912000 http://purl.obolibrary.org/obo/MONDO_0004786 cholangitis, chronic MONDO:0002124 secondary lacrimal atrophy biolink:Disease mondo DOID:1822|ICD10:H04.15|SCTID:75068001|COHD:376980|ICD9:375.14 SNOMEDCT:75068001|DOID:1822 http://purl.obolibrary.org/obo/MONDO_0002124 consecutive atrophy of lacrimal gland|secondary lacrimal atrophy|secondary atrophy of lacrimal gland MONDO:0004785 blepharitis biolink:Disease mondo ICD10:H01.0|MESH:D001762|ICD9:373.00|COHD:378425|NCIT:C112183|SCTID:41446000|ICD9:373.4|DOID:9423|ICD9:373.8|ICD9:373.0|ICD10:H01.00|ICD9:373.9|UMLS:C0005741|ICD10:H01.9 Inflammation of the eyelids near the eyelashes. MESH:D001762|SNOMEDCT:41446000|NCIT:C112183|DOID:9423|UMLS:C0005741 http://purl.obolibrary.org/obo/MONDO_0004785 inflammation of eyelid|eyelid inflammation MONDO:0004788 cervix squamous papilloma biolink:Disease mondo NCIT:C6342|DOID:9445|UMLS:C1336900 A papilloma that arises from the squamous epithelium of the cervix. NCIT:C6342|DOID:9445|UMLS:C1336900 http://purl.obolibrary.org/obo/MONDO_0004788 squamous papilloma of the cervix uteri|cervix uteri squamous papilloma|squamous papilloma of cervix|squamous papilloma of the cervix|squamous papilloma of cervix uteri|cervix squamous papilloma|squamous papilloma of uterine cervix|squamous papilloma of the uterine cervix|uterine cervix squamous papilloma|cervical squamous papilloma MONDO:0028737 biliary atresia disorder biolink:Disease mondo HP:0005912|Orphanet:498345 ORPHA:498345 http://purl.obolibrary.org/obo/MONDO_0028737 ordo_group_of_disorders MONDO:0002125 status epilepticus biolink:Disease mondo NCIT:C85079|MESH:D013226|EFO:0008526|ICD10:G41|SCTID:230456007|UMLS:C0038220|DOID:1824|GARD:0010191 A life-threatening situation in which the brain is in a continuous state of seizure. MESH:D013226|SNOMEDCT:230456007|UMLS:C0038220|NCIT:C85079|DOID:1824 http://purl.obolibrary.org/obo/MONDO_0002125 grand mal status|SE|generalized convulsive status epilepticus|GCSE gard_rare MONDO:0004787 cervical mullerian papilloma biolink:Disease mondo UMLS:C1516427|DOID:9442|NCIT:C40215 A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells. DOID:9442|UMLS:C1516427|NCIT:C40215 http://purl.obolibrary.org/obo/MONDO_0004787 cervical Muellerian papilloma|cervical Müllerian papilloma|cervical Mullerian papilloma MONDO:0002126 obsolete childhood absence epilepsy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002126 MONDO:0004782 diabetes insipidus biolink:Disease mondo DOID:9409|NCIT:C43263|ICD10:E23.2|ICD9:253.5|MESH:D003919|GARD:0011934|COHD:30968|UMLS:C0011848|SCTID:15771004 A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. UMLS:C0011848|NCIT:C43263|SNOMEDCT:15771004|DOID:9409|MESH:D003919 http://purl.obolibrary.org/obo/MONDO_0004782 MONDO:0002120 neuroendocrine carcinoma biolink:Disease mondo SCTID:253000007|NCIT:C3773|UMLS:C0206695|ICDO:8246/3|MESH:D018278|DOID:1800 A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma. UMLS:C0206695|MESH:D018278|SNOMEDCT:253000007|DOID:1800|NCIT:C3773 http://purl.obolibrary.org/obo/MONDO_0002120 neuroendocrine cancer, NOS|NEC|neuroendocrine carcinoma|neuroendocrine cancer MONDO:0004781 acute myocardial infarction biolink:Disease mondo DOID:9408|UMLS:C0155626|COHD:312327|ICD9:410.9|ICD9:410.90|NCIT:C35204|ICD9:410.82|ICD9:410.81|ICD9:410.92|ICD9:410.80|ICD9:410.91|ICD10:I21.3|ICD10:I21.9|EFO:0008583|SCTID:57054005|ICD9:410 Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. SNOMEDCT:57054005|UMLS:C0155626|DOID:9408|NCIT:C35204 http://purl.obolibrary.org/obo/MONDO_0004781 myocardial infarction (disease), acute|acute myocardial infarction (disease) MONDO:0004784 allergic asthma biolink:Disease mondo DOID:9415|ICD10:J45|UMLS:C0155877|SCTID:389145006|ICD9:493.0 A asthma with a basis in a pathological type I hypersensitivity reaction. SNOMEDCT:389145006|DOID:9415|UMLS:C0155877 http://purl.obolibrary.org/obo/MONDO_0004784 extrinsic asthma with status asthmaticus|extrinsic asthma with acute exacerbation|allergic form of asthma|atopic asthma MONDO:0002121 mononeuritis simplex biolink:Disease mondo SCTID:32595002|ICD9:355.9|UMLS:C0235880|COHD:372309|DOID:1802 Neuritis of a single nerve. SNOMEDCT:32595002|UMLS:C0235880|DOID:1802 http://purl.obolibrary.org/obo/MONDO_0002121 mononeuritis MONDO:0002122 neuritis biolink:Disease mondo ICD9:729.2|SCTID:128192007|UMLS:C0027813|MESH:D009443|DOID:1803|COHD:4027396|NCIT:C116381|SCTID:84299009 A neuropathy arising from inflammation of one or more nerves. UMLS:C0027813|MESH:D009443|NCIT:C116381|SNOMEDCT:84299009|SNOMEDCT:128192007|DOID:1803 http://purl.obolibrary.org/obo/MONDO_0002122 peripheral neuritis|nerve inflammation MONDO:0004783 obsolete panhypopituitarism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004783 MONDO:0004780 strictly posterior acute myocardial infarction biolink:Disease mondo DOID:9407|ICD9:410.60 DOID:9407 http://purl.obolibrary.org/obo/MONDO_0004780 MONDO:0016757 malignant triton tumor biolink:Disease mondo ICDO:9561/3|ICD9:171.9|DOID:6707|NCIT:C4335|Orphanet:252212|UMLS:C0334616|SCTID:404040002 Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation. NCIT:C4335|UMLS:C0334616|DOID:6707|ORPHA:252212|SNOMEDCT:404040002 http://purl.obolibrary.org/obo/MONDO_0016757 MPNST with rhabdomyosarcoma|malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma|malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma|MPNST with rhabdomyosarcomatous differentiation|MPNST with rhabdomyoblastic differentiation|malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation|malignant peripheral nerve sheath tumor with rhabdomyosarcoma|malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma|MTT|malignant tumor of peripheral nerve sheath with rhabdomyosarcoma|malignant Triton tumour|malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma ordo_clinical_subtype MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome biolink:Disease mondo GARD:0003607|ICD10:G98|UMLS:CN202009|Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986. UMLS:CN202009|ORPHA:2523 http://purl.obolibrary.org/obo/MONDO_0016758 microcephaly brain defect spasticity hypernatremia|Franek-Bocker-Kahlen syndrome|microcephaly - brain defect - spasticity - hypernatremia ordo_malformation_syndrome|gard_rare MONDO:0016759 pontocerebellar hypoplasia type 2 biolink:Disease mondo GARD:0010705|MESH:C548070|NCIT:C124057|Orphanet:2524|SCTID:715463008|UMLS:C2932714|ICD10:Q04.3 Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty. ORPHA:2524|MESH:C548070|SNOMEDCT:715463008|UMLS:C2932714|NCIT:C124057 http://purl.obolibrary.org/obo/MONDO_0016759 PCH2|progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy ordo_malformation_syndrome|gard_rare MONDO:0200001 obsolete chromate resistance biolink:Disease mondo OMIM:118840 http://identifiers.org/omim/118840 http://purl.obolibrary.org/obo/MONDO_0200001 CHROMATE RESISTANCE; CHR|CHR MONDO:0200000 uterine ligament adenosarcoma biolink:Disease mondo NCIT:C102570|UMLS:C3640823 An extremely rare adenosarcoma that arises from the uterine ligament. NCIT:C102570|UMLS:C3640823 http://purl.obolibrary.org/obo/MONDO_0200000 adenosarcoma of uterine ligament|uterine ligament adenosarcoma MONDO:0016753 obsolete benign schwannoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016753 MONDO:0016754 vestibular schwannoma (disease) biolink:Disease mondo HP:0009588|Orphanet:252175|MedDRA:10000523|ICD10:D33.3 Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness. MEDDRA:10000523|UMLS:C0027859|ORPHA:252175 http://purl.obolibrary.org/obo/MONDO_0016754 acoustic neurilemoma|acoustic neuroma|acoustic neurinoma|vestibular schwannoma ordo_clinical_subtype MONDO:0016755 neurofibroma biolink:Disease mondo SCTID:404029005|UMLS:C0027830|EFO:0000622|NCIT:C3272|ICD9:215.9|MedDRA:10029267|GARD:0007191|MESH:D009455|ICDO:9540/0|ONCOTREE:NFIB|DOID:962|Orphanet:252183 An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. NCIT:C3272|SNOMEDCT:404029005|UMLS:C0027830|MESH:D009455|DOID:962|MEDDRA:10029267|ORPHA:252183 http://purl.obolibrary.org/obo/MONDO_0016755 neurofibroma (WHO grade I)|neurofibroma|neurofibroma, benign|NFIB gard_rare|ordo_disease MONDO:0016756 inherited nervous system cancer-predisposing syndrome biolink:Disease mondo Orphanet:252190|UMLS:CN202004 UMLS:CN202004|ORPHA:252190 http://purl.obolibrary.org/obo/MONDO_0016756 ordo_group_of_disorders MONDO:0016750 microcephaly-cleft palate syndrome biolink:Disease mondo SCTID:719394002|MESH:C535622|Orphanet:2521|ICD10:Q87.8|UMLS:C2930954|GARD:0008623 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. UMLS:C2930954|ORPHA:2521|SNOMEDCT:719394002|MESH:C535622 http://purl.obolibrary.org/obo/MONDO_0016750 microcephaly cleft palate autosomal dominant|Halal syndrome|microcephaly-cleft palate-abnormal retinal pigmentation syndrome ordo_malformation_syndrome MONDO:0016751 malignant perineurioma biolink:Disease mondo Orphanet:252128|UMLS:C1266188|ICDO:9571/3|SCTID:761958009|NCIT:C66845 A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate. NCIT:C66845|UMLS:C1266188|ORPHA:252128|SNOMEDCT:761958009 http://purl.obolibrary.org/obo/MONDO_0016751 malignant peripheral nerve sheath tumor with perineurial differentiation|perineurial malignant peripheral nerve sheath tumor|perineurioma, malignant ordo_disease MONDO:0016752 benign peripheral nerve sheath tumor biolink:Disease mondo Orphanet:252131|UMLS:CN202000 ORPHA:252131|UMLS:CN202000 http://purl.obolibrary.org/obo/MONDO_0016752 BPNST ordo_group_of_disorders UBERON:0001425 pectoral lymphatic vessel biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0001425 PL UBERON:0013411 cranial cavity biolink:AnatomicalEntity mondo Anatomical cavity that is the lumen of the skull and contains the brain. http://purl.obolibrary.org/obo/UBERON_0013411 intracranial space|cavitas cranii|intracranial cavity PATO:0001693 increased viscosity biolink:OntologyClass mondo A viscosity which relatively high. http://purl.obolibrary.org/obo/PATO_0001693 high viscosity PATO:0001694 decreased viscosity biolink:OntologyClass mondo A viscosity which relatively low. http://purl.obolibrary.org/obo/PATO_0001694 low viscosity UBERON:0001435 carpal bone biolink:AnatomicalEntity mondo A bone that is part of the carpal skeleton. Examples: scaphoid, lunate, capitate[cjm]. http://purl.obolibrary.org/obo/UBERON_0001435 carpal skeleton bone|carpal|bone of carpus|carpus bone UBERON:0001434 skeletal system biolink:AnatomicalEntity mondo Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. http://purl.obolibrary.org/obo/UBERON_0001434 skeleton system|set of all bones and joints|Skelettsystem UBERON:0001419 skin of limb biolink:AnatomicalEntity mondo A zone of skin that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001419 limb zone of skin|zone of skin of limb|limb skin UBERON:0001418 skin of thorax biolink:AnatomicalEntity mondo A zone of skin that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001418 upper body skin|thorax zone of skin|thorax skin|thoracic skin|zone of skin of thorax UBERON:0001415 skin of pelvis biolink:AnatomicalEntity mondo A zone of skin that is part of a pelvis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001415 pelvis skin|zone of skin of pelvis|pelvic skin|pelvis zone of skin UBERON:0001417 skin of neck biolink:AnatomicalEntity mondo A zone of skin that is part of a neck [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001417 neck zone of skin|neck skin|zone of skin of neck (volume)|zone of skin of neck|neck (volume) zone of skin UBERON:0001416 skin of abdomen biolink:AnatomicalEntity mondo A zone of skin that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001416 abdomen skin|zone of skin of abdomen|skin of abdomen proper|abdominal skin|abdomen zone of skin HP:0030186 Kinetic tremor biolink:PhenotypicFeature mondo SNOMEDCT_US:30721006|MSH:D014202|SNOMEDCT_US:609558009|MSH:D020329|UMLS:C0270736|UMLS:C0234376 Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. http://purl.obolibrary.org/obo/HP_0030186 Essential tremor CHEBI:85638 haloacetate(1-) biolink:ChemicalSubstance mondo A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid. http://purl.obolibrary.org/obo/CHEBI_85638 haloacetate (1-)|a haloacetate UBERON:0001422 facial lymphatic vessel biolink:AnatomicalEntity mondo A lymphatic vessel that is part of a face [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001422 buccal lymphatic vessel|face lymph vessel|FL|lymphatic vessel of face|lymph vessel of face|face lymphatic vessel UBERON:0001421 pectoral girdle region biolink:AnatomicalEntity mondo An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. http://purl.obolibrary.org/obo/UBERON_0001421 upper limb girdle|shoulder girdle|pectoral region|cingulum membri superioris|girdle - pectoral|cingulum membri superioris|pectoral girdle UBERON:0001424 ulna biolink:AnatomicalEntity mondo The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]. http://purl.obolibrary.org/obo/UBERON_0001424 UBERON:0001423 radius bone biolink:AnatomicalEntity mondo The major preaxial endochondral bone in the anterior zeugopod[Phenoscape]. http://purl.obolibrary.org/obo/UBERON_0001423 radius HP:0030191 Abnormal peripheral nervous system synaptic transmission biolink:PhenotypicFeature mondo UMLS:C4021046 An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. http://purl.obolibrary.org/obo/HP_0030191 Abnormal PNS synaptic transmission CHEBI:36688 heterotricyclic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36688 heterotricyclic compound|heterotricyclic compounds|heterotricyclic compounds CHEBI:36685 chlorocarboxylic acid biolink:ChemicalSubstance mondo A carboxylic acid containing at least one chloro group. http://purl.obolibrary.org/obo/CHEBI_36685 chlorocarboxylic acids CHEBI:36683 organochlorine compound biolink:ChemicalSubstance mondo An organochlorine compound is a compound containing at least one carbon-chlorine bond. http://purl.obolibrary.org/obo/CHEBI_36683 organochlorides|an organochlorine molecule|chloroorganic compounds|organochloride|organochloride compound|organochlorine compounds|organochlorine compound|chlororganische Verbindungen|organochloride compounds CHEBI:36684 biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36684 CHEBI:36699 corticosteroid hormone biolink:ChemicalSubstance mondo Any of a class of steroid hormones that are produced in the adrenal cortex. http://purl.obolibrary.org/obo/CHEBI_36699 adrenal cortex hormones|corticosteroid hormones NCBITaxon:84527 Metagonimus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_84527 UBERON:0013455 spheno-petrosal fissure biolink:AnatomicalEntity mondo The sphenopetrosal fissure (or sphenopetrosal suture) is the cranial suture between the sphenoid bone and the petrous portion of the temporal bone. It is in the middle cranial fossa. http://purl.obolibrary.org/obo/UBERON_0013455 sphenopetrosal fissure|fissura sphenopetrosa PATO:0001655 osmolarity biolink:OntologyClass mondo A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution. http://purl.obolibrary.org/obo/PATO_0001655 NCBITaxon:84526 Heterophyidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_84526 PATO:0001656 decreased osmolarity biolink:OntologyClass mondo A osmolarity which is relatively low. http://purl.obolibrary.org/obo/PATO_0001656 low osmolarity NCBITaxon:84529 Metagonimus yokogawai organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_84529 PATO:0001657 increased osmolarity biolink:OntologyClass mondo A osmolarity which is relatively high. http://purl.obolibrary.org/obo/PATO_0001657 high osmolarity UBERON:0001471 skin of prepuce of penis biolink:AnatomicalEntity mondo the loose fold of skin that covers the penis http://purl.obolibrary.org/obo/UBERON_0001471 penis foreskin|preputial skin|foreskin of penis UBERON:0001470 glenohumeral joint biolink:AnatomicalEntity mondo The glenohumeral joint, commonly known as the shoulder joint, is a multiaxial synovial ball and socket joint and involves articulation between the glenoid fossa of the scapula (shoulder blade) and the head of the humerus (upper arm bone). [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001470 joint of shoulder|humeral joint|articulatio humeri|shoulder joint|humeroscapular joint CHEBI:73690 erythrose 4-phosphate/phosphoenolpyruvate family amino acid biolink:ChemicalSubstance mondo An L-alpha-amino acid which is biosynthesised from erythrose 4-phosphate and phosphoenolpyruvate (i.e. phenylalanine, tyrosine, and tryptophan). A closed class. http://purl.obolibrary.org/obo/CHEBI_73690 erythrose 4-phosphate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acids|phosphoenolpyruvate family amino acid|phosphoenolpyruvate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acid|erythrose 4-phosphate family amino acid|erythrose 4-phosphate/phosphoenolpyruvate family amino acids UBERON:0001479 sesamoid bone biolink:AnatomicalEntity mondo A sesamoid element that is composed of bone tissue. http://purl.obolibrary.org/obo/UBERON_0001479 ossa sesamoidea|sesamoid UBERON:0001473 lymphatic vessel biolink:AnatomicalEntity mondo A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]. http://purl.obolibrary.org/obo/UBERON_0001473 vas lymphaticum|lymph vessel UBERON:0001472 vaginal venous plexus biolink:AnatomicalEntity mondo The vaginal plexuses are placed at the sides of the vagina; they communicate with the uterine, vesical, and hemorrhoidal plexuses, and are drained by the vaginal veins, one on either side, into the hypogastric veins. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001472 venous vaginal plexus|plexus venosus vaginalis UBERON:0001474 bone element biolink:AnatomicalEntity mondo Skeletal element that is composed of bone tissue. http://purl.obolibrary.org/obo/UBERON_0001474 bones|bone organ|bone MONDO:0004603 collagenopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004603 MONDO:0004602 obsolete polymyalgia rheumatica biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004602 MONDO:0004605 chronic ulcer of skin biolink:Disease mondo ICD9:707.9|ICD10:L98.4|COHD:134441|ICD9:707.8|EFO:0007066|UMLS:C0157738|SCTID:19429009|DOID:8549|ICD9:707 UMLS:C0157738|DOID:8549|SNOMEDCT:19429009 http://purl.obolibrary.org/obo/MONDO_0004605 indolent ulcer (morphologic abnormality)|callous ulcer (morphologic abnormality)|callous ulcer|indolent ulcer MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance biolink:Disease mondo ONCOTREE:LRCHL|DOID:8543|NCIT:C6913|ICDO:9651/3|ICD10:C81.4|ICD9:201.4|SCTID:118607005 A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008) NCIT:C6913|SNOMEDCT:118607005|DOID:8543 http://purl.obolibrary.org/obo/MONDO_0004604 lymphocyte rich classical Hodgkin lymphoma|Hodgkin's disease, lymphocyte predominance [obs]|lymphocyte rich classical Hodgkin's disease|lymphocyte-rich Classic Hodgkin lymphoma|lymphocyte rich Hodgkin lymphoma|Hodgkin lymphoma, lymphocytic-histiocytic predominance|lymphocyte rich Hodgkin's disease|LRCHL|Hodgkin's disease, lymphocyte predominance|lymphocyte-rich classical Hodgkin's lymphoma|Hodgkin lymphoma, lymphocyte-rich|lymphocyte rich classical Hodgkin's lymphoma|lymphocyte-rich classical Hodgkin lymphoma|lymphocyte rich Hodgkin's lymphoma UBERON:0001459 skin of external ear biolink:AnatomicalEntity mondo A zone of skin that is part of a external ear [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001459 external ear zone of skin|outer ear zone of skin|zone of skin of auricular region|auricular region zone of skin|zone of skin of external ear|external ear skin|zone of skin of auricular region of head|ear skin|zone of skin of outer ear|auricular region of head zone of skin UBERON:0001458 skin of lip biolink:AnatomicalEntity mondo A zone of skin that is part of a lip [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001458 lip zone of skin|lip skin|zone of skin of lip|skin of lips MONDO:0004601 ulcer of lower limbs biolink:Disease mondo EFO:0007068|SCTID:419193008|DOID:8529|ICD9:707.13 Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. DOID:8529|SNOMEDCT:419193008 http://purl.obolibrary.org/obo/MONDO_0004601 Ulcer of calf|Ulcer of ankle|Ulcer of thigh|Ulcer of heel and midfoot MONDO:0004600 monocytic leukemia biolink:Disease mondo ICD9:206.90|ICD9:206.81|ICD10:C93.Z0|ICD10:C93.Z|ICD9:206.80|ICD9:206.91|ICD9:206.8|COHD:321526|DOID:8527|SCTID:188744006 SNOMEDCT:188744006|DOID:8527 http://purl.obolibrary.org/obo/MONDO_0004600 schilling's leukemia CHEBI:131927 dicarboxylic acids and O-substituted derivatives biolink:ChemicalSubstance mondo A class of carbonyl compound encompassing dicarboxylic acids and any derivatives obtained by substitution of either one or both of the carboxy hydrogens. http://purl.obolibrary.org/obo/CHEBI_131927 dicarboxylic acids and derivatives UBERON:0001460 arm biolink:AnatomicalEntity mondo The part of the forelimb extending from the shoulder to the autopod[cjm]. http://purl.obolibrary.org/obo/UBERON_0001460 brachium|upper extremity HGNC:8108 OCRL biolink:OntologyClass mondo http://identifiers.org/hgnc/8108 HGNC:8109 ODC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8109 UBERON:0001466 pedal digit biolink:AnatomicalEntity mondo A digit that is part of a pes (foot). http://purl.obolibrary.org/obo/UBERON_0001466 foot digit|pes digit|pedal digit (phalangeal portion) plus soft tissue|toe|digitipedis|hindlimb digit|hind_digit|digiti pedis|hind digit|digitus pedis|digit of foot|digiti pedis|digit of terminal segment of lower limb UBERON:0001465 knee biolink:AnatomicalEntity mondo A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod. http://purl.obolibrary.org/obo/UBERON_0001465 knee region UBERON:0001468 intervertebral joint biolink:AnatomicalEntity mondo The joint between adjacent vertebral bodies. May be composed of the nucleus pulposus, annular ligament, and the anterior and posterior longitudinal ligaments. http://purl.obolibrary.org/obo/UBERON_0001468 vertebral joint|inter-centrum joint|inter-vertebral joint|intervertebral symphysis|joint of vertebral body UBERON:0001467 shoulder biolink:AnatomicalEntity mondo A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle). http://purl.obolibrary.org/obo/UBERON_0001467 articulatio humeri|shoulder region UBERON:0001461 elbow biolink:AnatomicalEntity mondo The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]. http://purl.obolibrary.org/obo/UBERON_0001461 elbow limb segment|elbow region|cubital region|articulatio cubiti HGNC:8101 OCA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8101 UBERON:0001464 hip biolink:AnatomicalEntity mondo The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]. http://purl.obolibrary.org/obo/UBERON_0001464 regio coxae|hip region|coxa HGNC:8104 OCLN biolink:OntologyClass mondo http://identifiers.org/hgnc/8104 UBERON:0001463 manual digit 1 biolink:AnatomicalEntity mondo 1st (preaxial) digit of the manus[Wikipedia]. http://purl.obolibrary.org/obo/UBERON_0001463 manual digit I|digit 1 of fore-paw|thumb|finger 1|digitus I|forelimb dewclaw|first digit of hand|manual digit 1|fore limb digit 1|first finger|alula|fore digit I|hand digit 1|pollex|digitus 1|digit 1 of manus|digitus primus|hand digit 1|digitus primus [I] CHEBI:24662 hydroxy-amino acid biolink:ChemicalSubstance mondo A non-proteinogenic alpha-amino acid bearing one or more hydroxy groups at unspecified positions. http://purl.obolibrary.org/obo/CHEBI_24662 UBERON:0001448 metatarsal bone biolink:AnatomicalEntity mondo The metatarsus or metatarsal bones are a group of five long bones in the pes located between the tarsal bones of the hind- and mid-pes and the phalanges of the toes. Lacking individual names, the metatarsal bones are numbered from the medial side (side of big toe): the first, second, third, fourth, and fifth metatarsal. The metatarsals are analogous to the metacarpal bones of the manus. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001448 ossa metatarsalia|metatarsal|ossa metatarsi UBERON:0001447 tarsal bone biolink:AnatomicalEntity mondo A bone that is part of the tarsal skeleton. Examples: calcaneus, talus, centralia. http://purl.obolibrary.org/obo/UBERON_0001447 bony tarsus|ossa tarsalia|ossa tarsi|ankle bone|bone of ankle|bone of tarsus|bone of tarsal skeleton|hind mesopodium|tarsal|tarsus osseus UBERON:0001449 phalanx of pes biolink:AnatomicalEntity mondo A phalanx that is part of a hindlimb autopod[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001449 toe phalanx|pedal phalanx|phalanges of hind digit|digital bone of pes|phalanx of pes|phalanx of foot digit|digitus pedis phalanx|phalanx of toe|bone of toe|foot phalanx|phalanx of hind digit|phalanx of digit of foot|phalanx of digitus pedis|foot digit phalanx CHEBI:83039 crustacean metabolite biolink:ChemicalSubstance mondo An animal metabolite produced by arthropods such as crabs, lobsters, crayfish, shrimps and krill. http://purl.obolibrary.org/obo/CHEBI_83039 crustacean metabolites HGNC:28296 DYNC2I2 biolink:OntologyClass mondo http://identifiers.org/hgnc/28296 PATO:0001673 cystic biolink:OntologyClass mondo Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances. http://purl.obolibrary.org/obo/PATO_0001673 cysts GO:0060610 mesenchymal cell differentiation involved in mammary gland development biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of a mammary gland mesenchymal cell. Mammary gland mesenchymal cells form a loosely connected network of cells that surround the mammary ducts. http://purl.obolibrary.org/obo/GO_0060610 mammary gland mesenchymal cell differentiation HP:0030159 Cervical polyp biolink:PhenotypicFeature mondo SNOMEDCT_US:123841004|MSH:D002583|SNOMEDCT_US:65576009|UMLS:C0007855|UMLS:C0007873 Abnormal growth of tissue projecting from a mucous membrane of the endocervix. http://purl.obolibrary.org/obo/HP_0030159 Cervical tumor PATO:0001671 increased distribution biolink:OntologyClass mondo A distribution which is relatively high. http://purl.obolibrary.org/obo/PATO_0001671 high distribution PATO:0001672 decreased distribution biolink:OntologyClass mondo A distribution which is relatively low. http://purl.obolibrary.org/obo/PATO_0001672 low distribution UBERON:0001457 skin of eyelid biolink:AnatomicalEntity mondo A zone of skin that is part of a eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001457 blepharon zone of skin|eyelid zone of skin|zone of skin of blepharon|eyelid skin|zone of skin of eyelid UBERON:0001456 face biolink:AnatomicalEntity mondo A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). http://purl.obolibrary.org/obo/UBERON_0001456 visage|facia/facies UBERON:0001450 calcaneus biolink:AnatomicalEntity mondo The postaxial bone of the proximal tarsals series[Phenoscape]. http://purl.obolibrary.org/obo/UBERON_0001450 calcaneum|heel bone|os calcis|os tarsi fibulare|fibulare|calcaneal bone|calcaneus bone|calcanei CHEBI:24676 hydroxybenzoic acid biolink:ChemicalSubstance mondo Any benzoic acid carrying one or more phenolic hydroxy groups on the benzene ring. http://purl.obolibrary.org/obo/CHEBI_24676 hydroxybenzoic acid|hydroxybenzoic acids CHEBI:24675 hydroxybenzoate biolink:ChemicalSubstance mondo Any benzoate derivative carrying a single carboxylate group and at least one hydroxy substituent. http://purl.obolibrary.org/obo/CHEBI_24675 hydroxybenzoates UBERON:0001437 epiphysis biolink:AnatomicalEntity mondo The head of a long bone that articulates with a neighboring skeletal element and is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united[MESH,modified]. http://purl.obolibrary.org/obo/UBERON_0001437 long bone epiphysis|epiphyses|bone epiphysis|end of long bone UBERON:0001436 phalanx of manus biolink:AnatomicalEntity mondo A phalanx that is part of a forelimb autopod[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001436 phalanx of digitus manus|phalanges of fore digit|bone of finger|finger phalanx|phalanx of hand|manual phalanx|phalanx of hand digit|digitus manus phalanx|phalanx of fore digit|phalanx of finger|digital bone of manus|hand phalanx|phalanx of digit of hand|hand digit phalanx|phalanx of manual digit UBERON:0001438 metaphysis biolink:AnatomicalEntity mondo Zone of long bone that is between the epiphysis and diaphysis. Subdivision of diaphysis which forms the proximal or distal end of diaphysis next to the epiphysis; together with diaphysis proper, it constitutes the diaphysis. Examples: proximal metaphysis of humerus, distal metaphysis of femur.[FMA] http://purl.obolibrary.org/obo/UBERON_0001438 diaphyseal end of long bone|long bone metaphysis|metaphyses PATO:0001688 increased elevation biolink:OntologyClass mondo An elevation which is relatively high. http://purl.obolibrary.org/obo/PATO_0001688 elevated|high elevation PATO:0001689 decreased elevation biolink:OntologyClass mondo An elevation which is relatively low. http://purl.obolibrary.org/obo/PATO_0001689 low elevation PATO:0001687 elevation biolink:OntologyClass mondo A positional quality inhering in a bearer by virtue of the bearer's vertical distance of a point above or below a reference surface. http://purl.obolibrary.org/obo/PATO_0001687 HP:0030163 Abnormal vascular physiology biolink:PhenotypicFeature mondo UMLS:C4022603 Abnormality of vascular function. http://purl.obolibrary.org/obo/HP_0030163 UBERON:0001444 subdivision of head biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0001444 head region|head subdivision|region of head UBERON:0001443 chest biolink:AnatomicalEntity mondo Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. http://purl.obolibrary.org/obo/UBERON_0001443 front of thorax|anterolateral part of thorax|ventral part of thoracic region|thorax|thoracic body wall|pectus UBERON:0001446 fibula biolink:AnatomicalEntity mondo The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]. http://purl.obolibrary.org/obo/UBERON_0001446 GO:0060606 tube closure biolink:OntologyClass mondo Creation of the central hole of a tube in an anatomical structure by sealing the edges of an epithelial fold. http://purl.obolibrary.org/obo/GO_0060606 UBERON:0001445 skeleton of pes biolink:AnatomicalEntity mondo Subdivision of skeleton that is the collection of all skeletal elements in a pes, which is the distal section of the posterior hindlimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the ankle, sole, and toes)[Phenoscape]. http://purl.obolibrary.org/obo/UBERON_0001445 posterior autopodium skeleton|foot skeleton|pes skeleton|set of bones of foot|pes|posterior autopodium|foot region skeleton|skeleton of foot|pedal skeleton UBERON:0001440 forelimb skeleton biolink:AnatomicalEntity mondo The collection of all skeletal elements in a free forelimb region. Excludes the pectoral girdle http://purl.obolibrary.org/obo/UBERON_0001440 skeleton of free upper limb|set of bones of upper limb|upper limb skeleton|free upper limb skeleton|ossa membri superioris|skeleton of pectoral limb|bones of upper limb|fore limb skeleton|wing skeleton|skeleton of upper limb|skeleton of forelimb|pectoral limb skeleton|forelimb skeleton HGNC:8124 OGDH biolink:OntologyClass mondo http://identifiers.org/hgnc/8124 UBERON:0001442 skeleton of manus biolink:AnatomicalEntity mondo Subdivision of skeleton that is the collection of all skeletal elements in a manus, which is the distal section of the anterior forelimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the wrist, palm, and fingers)[Phenoscape]. http://purl.obolibrary.org/obo/UBERON_0001442 hand skeleton|anterior autopodium|set of bones of hand|fore autopod skeleton|anterior autopodium skeleton|ossa manus|forelimb autopod skeleton|hand region skeleton|manual skeleton|bones of hand|skeleton of hand|manus skeleton|manus UBERON:0001441 hindlimb skeleton biolink:AnatomicalEntity mondo Subdivision of skeleton consisting of all skeletal elements in an hindlimb region. http://purl.obolibrary.org/obo/UBERON_0001441 skeleton of free lower limb|set of bones of lower limb|lower limb skeleton|bones of lower limb|free lower limb skeleton|skeleton of lower limb|ossa membri inferioris|hind-limb skeleton|hindlimb skeleton|hind limb skeleton HGNC:8125 OGG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8125 GO:0033008 positive regulation of mast cell activation involved in immune response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of mast cell activation as part of an immune response. http://purl.obolibrary.org/obo/GO_0033008 positive regulation of mast cell activation during immune response GO:0033007 negative regulation of mast cell activation involved in immune response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response. http://purl.obolibrary.org/obo/GO_0033007 negative regulation of mast cell activation during immune response HGNC:16290 TRIM33 biolink:OntologyClass mondo http://identifiers.org/hgnc/16290 GO:0008046 axon guidance receptor activity biolink:OntologyClass mondo Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance. http://purl.obolibrary.org/obo/GO_0008046 receptor activity involved in axon guidance CHEBI:58095 L-phenylalanine zwitterion biolink:ChemicalSubstance mondo An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-phenylalanine; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_58095 phenylalanine|L-phenylalanine|(2S)-2-ammonio-3-phenylpropanoate|(2S)-2-azaniumyl-3-phenylpropanoate GO:0033006 regulation of mast cell activation involved in immune response biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of mast cell activation as part of an immune response. http://purl.obolibrary.org/obo/GO_0033006 regulation of mast cell activation during immune response GO:0033005 positive regulation of mast cell activation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of mast cell activation. http://purl.obolibrary.org/obo/GO_0033005 GO:0033004 negative regulation of mast cell activation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation. http://purl.obolibrary.org/obo/GO_0033004 GO:0033003 regulation of mast cell activation biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of mast cell activation. http://purl.obolibrary.org/obo/GO_0033003 HGNC:16297 UPB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16297 GO:0033001 Fc-gamma receptor III complex biolink:OntologyClass mondo A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG. http://purl.obolibrary.org/obo/GO_0033001 immunoglobulin G receptor complex|IgG receptor complex|FcgRIII complex HP:0005120 Abnormal cardiac atrium morphology biolink:PhenotypicFeature mondo UMLS:C4025246 Any structural abnormality of a cardiac atrium. http://purl.obolibrary.org/obo/HP_0005120 Abnormality of cardiac atrium morphology|Abnormality of heart atrium HGNC:28287 ALG14 biolink:OntologyClass mondo http://identifiers.org/hgnc/28287 HP:0005132 Pericardial constriction biolink:PhenotypicFeature mondo UMLS:C0240709 Compression of the heart caused by rigid, thickened, or fused pericardial membranes. http://purl.obolibrary.org/obo/HP_0005132 NCBITaxon:118655 Oropouche virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_118655 CHEBI:58072 carbon monoxide(1+) biolink:ChemicalSubstance mondo Conjugate acid of carbon monoxide arising from protonation of the carbon; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_58072 methylidyneoxonium|CO(1+)|methylidyneoxidanium HGNC:16280 TRIM36 biolink:OntologyClass mondo http://identifiers.org/hgnc/16280 GO:0035637 multicellular organismal signaling biolink:OntologyClass mondo The transfer of information occurring at the level of a multicellular organism. http://purl.obolibrary.org/obo/GO_0035637 multicellular organismal signalling HGNC:28261 TBCK biolink:OntologyClass mondo http://identifiers.org/hgnc/28261 HP:0007773 Vitreoretinopathy biolink:PhenotypicFeature mondo UMLS:C1850109 Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. http://purl.obolibrary.org/obo/HP_0007773 Vitreoretinal abnormality|Vitreoretinal degeneration HGNC:16287 NFU1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16287 HGNC:16257 TUBB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16257 HGNC:16252 SUN5 biolink:OntologyClass mondo http://identifiers.org/hgnc/16252 HGNC:16255 TGM6 biolink:OntologyClass mondo http://identifiers.org/hgnc/16255 HGNC:16262 YAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16262 GO:0008016 regulation of heart contraction biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. http://purl.obolibrary.org/obo/GO_0008016 regulation of cardiac contraction GO:0008015 blood circulation biolink:OntologyClass mondo The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. http://purl.obolibrary.org/obo/GO_0008015 hemolymph circulation HGNC:28249 PHYKPL biolink:OntologyClass mondo http://identifiers.org/hgnc/28249 NCBITaxon:299467 Leptotrombidium deliense organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_299467 scrub typhus mite HGNC:16268 PNPLA6 biolink:OntologyClass mondo http://identifiers.org/hgnc/16268 HGNC:16266 SLC19A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/16266 HGNC:28213 PIGY biolink:OntologyClass mondo http://identifiers.org/hgnc/28213 HGNC:28216 COX14 biolink:OntologyClass mondo http://identifiers.org/hgnc/28216 CHEBI:61655 steroid saponin biolink:ChemicalSubstance mondo Any saponin derived from a hydroxysteroid. http://purl.obolibrary.org/obo/CHEBI_61655 steroid glycosides|steroidal glycoside|glycosteroid|steryl glycosides|steryl glycoside|glycosteroids|steroidal glycosides|steroid glycoside|sterol glycoside|glycosyl steroid|glycosyl steroids|sterol glycosides|steroid saponins HGNC:16232 COX4I2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16232 HGNC:16243 MYLK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16243 NCBITaxon:11620 Lassa mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11620 Lassa virus HGNC:8091 OAT biolink:OntologyClass mondo http://identifiers.org/hgnc/8091 MONDO:0002057 breast leiomyoma biolink:Disease mondo NCIT:C40399|UMLS:C1511317|DOID:1623 A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. DOID:1623|NCIT:C40399|UMLS:C1511317 http://purl.obolibrary.org/obo/MONDO_0002057 breast leiomyoma|leiomyoma of breast MONDO:0002058 breast adenoma biolink:Disease mondo UMLS:C1328385|DOID:1625|NCIT:C40382 A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma. DOID:1625|NCIT:C40382|UMLS:C1328385 http://purl.obolibrary.org/obo/MONDO_0002058 breast adenoma|Ademoma - breast MONDO:0002059 obsolete breast duct papilloma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002059 NCBITaxon:11623 Lymphocytic choriomeningitis mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11623 LCMV|Lymphocytic choriomeningitis virus|lymphocytic choriomeningitis virus LCMV MONDO:0002053 obsolete hypoglycemic coma biolink:Disease mondo ICD10:E15|COHD:380688|ICD9:251.0|UMLS:C0020617|HP:0001325|DOID:1607|SCTID:267384006 DOID:1607|UMLS:C0020617|SNOMEDCT:267384006 http://purl.obolibrary.org/obo/MONDO_0002053 UBERON:2001053 future internal carotid artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_2001053 PICA|primitive internal carotid artery MONDO:0002054 obsolete breast cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002054 MONDO:0002055 benign eccrine breast spiradenoma biolink:Disease mondo DOID:1616|UMLS:C1332492|NCIT:C5193 A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells. NCIT:C5193|DOID:1616|UMLS:C1332492 http://purl.obolibrary.org/obo/MONDO_0002055 benign eccrine spiradenoma of breast|benign eccrine spiradenoma of the breast|benign eccrine breast spiradenoma|benign breast eccrine spiradenoma NCBITaxon:11628 Machupo mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11628 Machupo virus MONDO:0002056 breast fibroadenoma biolink:Disease mondo SCTID:254847007|DOID:1618|NCIT:C3744|ICD10:D24|ONCOTREE:FA|UMLS:C0206650|UMLS:C0178421|ICDO:9010/0|EFO:1000254|UMLS:C0346158|MESH:D018226 A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported. MESH:D018226|DOID:1618|UMLS:C0346158|UMLS:C0178421|NCIT:C3744|SNOMEDCT:254847007|UMLS:C0206650 http://purl.obolibrary.org/obo/MONDO_0002056 fibroadenoma|fibroadenoma, benign|cellular fibroadenoma|fibroadenoma of breast|fibroadenoma of the breast|juvenile fibroadenoma of breast|juvenile fibroadenoma (morphologic abnormality)|breast fibroadenoma|juvenile fibroadenoma|FA|Complex fibroadenoma of breast GO:0060591 chondroblast differentiation biolink:OntologyClass mondo The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes. http://purl.obolibrary.org/obo/GO_0060591 chondrocyte progenitor cell differentiation MONDO:0002050 depressive disorder biolink:Disease mondo SCTID:35489007|NCIT:C2982|MFOMD:0000013|MESH:D003866|UMLS:CN236658|ICD9:311|DOID:1596|ICD10:F32|ICD10:F33.9|ICD10:F32.9 A melancholy feeling of sadness and despair. MESH:D003866|NCIT:C2982|SNOMEDCT:35489007|UMLS:CN236658|DOID:1596 http://purl.obolibrary.org/obo/MONDO_0002050 melancholias|depression|syndromes, depressive|syndrome, depressive|melancholia|mental depression HP:0007707 Congenital aphakia biolink:PhenotypicFeature mondo MSH:C537786|UMLS:C1853230 Absence of the crystalline lens of the eye as a result of a developmental defect. http://purl.obolibrary.org/obo/HP_0007707 Lens agenesis MONDO:0002051 integumentary system disease biolink:Disease mondo SCTID:128598002|DOID:16|UMLS:C1290011 A disease involving the integumental system. UMLS:C1290011|DOID:16|SNOMEDCT:128598002 http://purl.obolibrary.org/obo/MONDO_0002051 disorder of integumental system|disorder of integument|disorder of integumental system|integumental system disease|disease or disorder of integumental system|disease of integumental system|integumentary disease|integumental system disease or disorder MONDO:0002052 lymphadenitis (disease) biolink:Disease mondo ICD10:I88.9|HP:0002840|UMLS:C0024205|ICD10:L04|UMLS:C0157705|MESH:D008199|DOID:1602|UMLS:C0154304|ICD10:I88.1|ICD9:289.1|ICD9:683|ICD10:L04.9|SCTID:41174002|NCIT:C26821 Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. UMLS:C0154304|DOID:1602|NCIT:C26821|MESH:D008199|UMLS:C0024205|UMLS:C0157705|SNOMEDCT:41174002 http://purl.obolibrary.org/obo/MONDO_0002052 chronic lymphadenitis|Inflammation of lymph node|acute adenitis|lymph node inflammation|acute lymphadenitis|inflammation of lymph node|lymphadenitis|chronic adenitis|lymph gland infection|adenitis|lymph nodeitis MONDO:0014049 urofacial syndrome 2 biolink:Disease mondo OMIM:615112|UMLS:C3554520 Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. UMLS:C3554520|http://identifiers.org/omim/615112 http://purl.obolibrary.org/obo/MONDO_0014049 LRIG2 Ochoa syndrome|urofacial syndrome 2; UFS2|Ochoa syndrome caused by mutation in LRIG2|urofacial syndrome 2|UFS2|urofacial syndrome type 2 MONDO:0014048 Cowden syndrome 6 biolink:Disease mondo OMIM:615109|UMLS:C3554519 Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene. http://identifiers.org/omim/615109|UMLS:C3554519 http://purl.obolibrary.org/obo/MONDO_0014048 Cowden syndrome 6|Cowden syndrome 6; CWS6|AKT1 Cowden disease|CWS6|Cowden disease caused by mutation in AKT1|Cowden syndrome type 6 MONDO:0014047 Cowden syndrome 5 biolink:Disease mondo OMIM:615108|UMLS:C3554518 Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene. http://identifiers.org/omim/615108|UMLS:C3554518 http://purl.obolibrary.org/obo/MONDO_0014047 PIK3CA Cowden disease|Cowden disease caused by mutation in PIK3CA|Cowden syndrome 5|Cowden syndrome 5; CWS5|Cowden syndrome type 5|CWS5 HP:0007700 Ocular anterior segment dysgenesis biolink:PhenotypicFeature mondo UMLS:C0266525|SNOMEDCT_US:65075004 Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. http://purl.obolibrary.org/obo/HP_0007700 Anterior chamber cleavage disorder|Anterior segment developmental abnormality|Anterior chamber mesodermal anomalies|Anterior segment mesencyhmal dysgenesis|Anterior chamber malformation|Anterior segment dysgenesis|Anterior segment ocular dysgenesis|Anterior chamber cleavage defect MONDO:0041656 ST-elevation myocardial infarction biolink:Disease mondo SCTID:401303003|EFO:0008585 A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG. SNOMEDCT:401303003 http://purl.obolibrary.org/obo/MONDO_0041656 ST segment elevation myocardial infarction|STEMI|acute-ST segment elevation myocardial infarction MONDO:0014042 left ventricular noncompaction 7 biolink:Disease mondo UMLS:C3554496|OMIM:615092 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene. http://identifiers.org/omim/615092|UMLS:C3554496 http://purl.obolibrary.org/obo/MONDO_0014042 MIB1 left ventricular noncompaction|left ventricular noncompaction type 7|left ventricular noncompaction 7|LVNC7|left ventricular noncompaction caused by mutation in MIB1|left ventricular noncompaction 7; LVNC7 MONDO:0014041 autism, susceptibility to, 19 biolink:Disease mondo OMIM:615091 http://identifiers.org/omim/615091 http://purl.obolibrary.org/obo/MONDO_0014041 AUTS19|autism, susceptibility to, type 19|autism, susceptibility to, 19; AUTS19|susceptibility to autism 19|autism, susceptibility to, 19 predisposition MONDO:0014040 autosomal recessive osteopetrosis 8 biolink:Disease mondo UMLS:C3554478|OMIM:615085|NCIT:C150556|DOID:0110940 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene. NCIT:C150556|UMLS:C3554478|DOID:0110940|http://identifiers.org/omim/615085 http://purl.obolibrary.org/obo/MONDO_0014040 SNX10 autosomal recessive osteopetrosis|SNX10 autosomal recessive malignant osteopetrosis|osteopetrosis, autosomal recessive 8|OPTB8|autosomal recessive osteopetrosis caused by mutation in SNX10|autosomal recessive malignant osteopetrosis caused by mutation in SNX10|osteopetrosis, autosomal recessive 8; OPTB8|osteopetrosis, autosomal recessive type 8|autosomal recessive osteopetrosis type 8 MONDO:0014046 Cowden syndrome 4 biolink:Disease mondo UMLS:C3554517|OMIM:615107 Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene. http://identifiers.org/omim/615107|UMLS:C3554517 http://purl.obolibrary.org/obo/MONDO_0014046 Cowden syndrome 4|KLLN Cowden disease|Cowden syndrome 4; CWS4|Cowden syndrome type 4|Cowden disease caused by mutation in KLLN|CWS4 MONDO:0014045 Cowden syndrome 3 biolink:Disease mondo UMLS:C3554516|OMIM:615106 Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene. http://identifiers.org/omim/615106|UMLS:C3554516 http://purl.obolibrary.org/obo/MONDO_0014045 CWS3|Cowden syndrome 3|Cowden disease caused by mutation in SDHD|Cowden syndrome 3; CWS3|Cowden syndrome type 3|SDHD Cowden disease MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome biolink:Disease mondo SCTID:763279007|OMIM:615102|UMLS:C3554774|ICD10:Q87.8|Orphanet:289553 #64258;at nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. ORPHA:289553|SNOMEDCT:763279007|http://identifiers.org/omim/615102|UMLS:C3554774 http://purl.obolibrary.org/obo/MONDO_0014044 TYSHCHENKO syndrome ordo_malformation_syndrome MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency biolink:Disease mondo ICD10:Q87.1|OMIM:615095|DOID:0070294|UMLS:C3554499|UMLS:C4510378|Orphanet:329228|SCTID:724141003 Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. http://identifiers.org/omim/615095|UMLS:C4510378|DOID:0070294|ORPHA:329228|SNOMEDCT:724141003|UMLS:C3554499 http://purl.obolibrary.org/obo/MONDO_0014043 MCPH10|microcephalic primordial dwarfism, Walsh type|microcephaly 10, primary, autosomal recessive; MCPH10|primary autosomal recessive microcephaly 10|microcephaly 10, primary, autosomal recessive ordo_malformation_syndrome MONDO:0002068 female breast lower-inner quadrant cancer biolink:Disease mondo DOID:1649|SCTID:188153009|ICD10:C50.31|UMLS:C0153551|ICD9:174.3|ICD10:C50.3 DOID:1649|SNOMEDCT:188153009|UMLS:C0153551 http://purl.obolibrary.org/obo/MONDO_0002068 malignant neoplasm of lower-inner quadrant of female breast MONDO:0002069 female breast axillary tail cancer biolink:Disease mondo UMLS:C0153554|ICD10:C50.61|SCTID:188156001|ICD10:C50.6|ICD9:174.6|DOID:1650 A cancer that involves the UBERON:0035289. DOID:1650|UMLS:C0153554|SNOMEDCT:188156001 http://purl.obolibrary.org/obo/MONDO_0002069 malignant neoplasm of axillary tail of breast|malignant axillary tail of breast neoplasm|axillary tail of breast cancer|cancer of axillary tail of breast|malignant neoplasm of axillary tail of female breast NCBITaxon:11632 Retroviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11632 MONDO:0002064 breast angiomatosis biolink:Disease mondo DOID:1637|UMLS:C1511284|NCIT:C40381 A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces. DOID:1637|NCIT:C40381|UMLS:C1511284 http://purl.obolibrary.org/obo/MONDO_0002064 MONDO:0002065 benign breast adenomyoepithelioma biolink:Disease mondo NCIT:C5144|UMLS:C1332477|DOID:1641 A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation. DOID:1641|UMLS:C1332477|NCIT:C5144 http://purl.obolibrary.org/obo/MONDO_0002065 benign adenomyoepithelioma of the breast|benign breast adenomyoepithelioma|breast adenomyoepithelioma, benign|benign adenomyoepithelioma of breast MONDO:0002066 breast adenomyoepithelioma biolink:Disease mondo ICDO:8983/0|UMLS:C1510795|ONCOTREE:BRAME|DOID:1642|NCIT:C6899 A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases. UMLS:C1510795|NCIT:C6899|DOID:1642 http://purl.obolibrary.org/obo/MONDO_0002066 breast adenomyoepithelioma with malignant change|breast adenomyoepithelioma|BRAME|malignant adenomyoepithelioma of breast|adenomyoepithelioma of the breast MONDO:0002067 female breast upper-inner quadrant cancer biolink:Disease mondo DOID:1647|SCTID:188152004|ICD9:174.2|UMLS:C0153550|ICD10:C50.2 DOID:1647|UMLS:C0153550|SNOMEDCT:188152004 http://purl.obolibrary.org/obo/MONDO_0002067 malignant neoplasm of upper-inner quadrant of female breast MONDO:0002060 intraductal papilloma biolink:Disease mondo UMLS:C0206713|NCIT:C3785|ICDO:8503/0|MESH:D018300|DOID:1627 An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma. NCIT:C3785|UMLS:C0206713|MESH:D018300|DOID:1627 http://purl.obolibrary.org/obo/MONDO_0002060 ductal papilloma|duct adenoma|duct papilloma|intraductal papilloma (morphologic abnormality)|intraductal papilloma MONDO:0002061 intraductal papillary breast neoplasm biolink:Disease mondo NCIT:C36090|UMLS:C1334252|DOID:1628 A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma. NCIT:C36090|UMLS:C1334252|DOID:1628 http://purl.obolibrary.org/obo/MONDO_0002061 intraductal papillary breast neoplasm MONDO:0002062 breast myofibroblastoma biolink:Disease mondo NCIT:C40397|UMLS:C1511320|DOID:1629 A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass. NCIT:C40397|UMLS:C1511320|DOID:1629 http://purl.obolibrary.org/obo/MONDO_0002062 breast myofibroblastoma MONDO:0002063 breast papillomatosis biolink:Disease mondo DOID:1634|NCIT:C6977|UMLS:C1332636 A benign breast neoplasm characterized by the proliferation of multiple papillomas. UMLS:C1332636|DOID:1634|NCIT:C6977 http://purl.obolibrary.org/obo/MONDO_0002063 papillomatosis of the breast|papillomatosis of breast|breast papillomatosis MONDO:0014039 mitochondrial DNA depletion syndrome 11 biolink:Disease mondo Orphanet:352447|DOID:0080129|ICD10:G71.3|OMIM:615084|UMLS:C3554462 Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. UMLS:C3554462|http://identifiers.org/omim/615084|ORPHA:352447|DOID:0080129 http://purl.obolibrary.org/obo/MONDO_0014039 MTDPS11|PEO-myopathy-emaciation syndrome|mitochondrial DNA depletion syndrome caused by mutation in MGME1|mtDNA maintenance syndrome due to MGME1 deficiency|mitochondrial DNA depletion syndrome type 11|mitochondrial DNA maintenance syndrome due to MGME1 deficiency|mitochondrial DNA depletion syndrome 11; MTDPS11|progressive external ophthalmoplegia-myopathy-emaciation syndrome|MGME1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 11 ordo_disease MONDO:0014038 colorectal cancer, susceptibility to, 12 biolink:Disease mondo OMIM:615083 Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene. http://identifiers.org/omim/615083 http://purl.obolibrary.org/obo/MONDO_0014038 colorectal cancer caused by mutation in POLE|CRCS12|colorectal cancer, susceptibility to, 12; CRCS12|colorectal cancer, susceptibility to, type 12|POLE colorectal cancer|susceptibility to colorectal cancer 12|colorectal cancer, susceptibility to, 12|colorectal cancer, susceptibility to, on chromosome 12Q24 predisposition MONDO:0014037 spermatogenic failure 11 biolink:Disease mondo UMLS:C3554453|DOID:0070180|OMIM:615081 Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene. UMLS:C3554453|http://identifiers.org/omim/615081|DOID:0070180 http://purl.obolibrary.org/obo/MONDO_0014037 spermatogenic failure 11; SPGF11|azoospermia caused by mutation in KLHL10|spermatogenic failure 11|SPGF11|KLHL10 azoospermia|spermatogenic failure type 11 MONDO:0014036 Alzheimer disease 17 biolink:Disease mondo DOID:0110049|UMLS:C3554452|OMIM:615080 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. UMLS:C3554452|http://identifiers.org/omim/615080|DOID:0110049 http://purl.obolibrary.org/obo/MONDO_0014036 AD17|Alzheimer disease 17, late onset|Alzheimer disease 17, late-onset|Alzheimer disease 17; AD17|Alzheimer's disease type 17|Alzheimer's disease 17|Alzheimer disease 17 MONDO:0016698 ependymoma biolink:Disease mondo GARD:0006353|ONCOTREE:EPM|ICD10:D43.2|MedDRA:10014967|UMLS:C0014474|NCIT:C3017|MESH:D004806|UMLS:CN201941|DOID:4844|ICDO:9391/3|Orphanet:251636 A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO) ORPHA:251636|NCIT:C3017|MESH:D004806|MEDDRA:10014967|UMLS:C0014474|UMLS:CN201941|DOID:4844 http://purl.obolibrary.org/obo/MONDO_0016698 tanycytic ependymoma (histologic variant)|ependymoma, benign|papillary ependymoma (histologic variant)|WHO grade II ependymal neoplasm|benign ependymoma|ependymoma|ependymoma, NOS|WHO grade II ependymal tumor|ependymoma, familial|clear cell ependymoma (histologic variant)|WHO grade II ependymal tumor|epithelial ependymoma ordo_histopathological_subtype MONDO:0016699 myxopapillary ependymoma biolink:Disease mondo ONCOTREE:MPE|DOID:5075|UMLS:C0205769|Orphanet:251643|ICDO:9394/1|GARD:0010633|ICD10:D43.2|NCIT:C3697 Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population. UMLS:C0205769|ORPHA:251643|NCIT:C3697|DOID:5075 http://purl.obolibrary.org/obo/MONDO_0016699 myxopapillary ependymoma|ependymoma, benign|myxopapillary ependymoma (morphologic abnormality) gard_rare|ordo_histopathological_subtype MONDO:0014031 microcephalic primordial dwarfism, Alazami type biolink:Disease mondo Orphanet:319671|OMIM:615071|ICD10:Q87.1|UMLS:C3554439 Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety. http://identifiers.org/omim/615071|ORPHA:319671|UMLS:C3554439 http://purl.obolibrary.org/obo/MONDO_0014031 ALAZS|Alazami syndrome; ALAZS|Alazami syndrome|facial dysmorphism, intellectual disability, and primordial dwarfism ordo_malformation_syndrome MONDO:0016694 obsolete Pituicytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016694 MONDO:0014030 primary ciliary dyskinesia 20 biolink:Disease mondo ICD10:Q34.8|UMLS:C3540844|DOID:0110625|OMIM:615067 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene. http://identifiers.org/omim/615067|UMLS:C3540844|DOID:0110625 http://purl.obolibrary.org/obo/MONDO_0014030 primary ciliary dyskinesia type 20|CCDC114 primary ciliary dyskinesia|ciliary dyskinesia, primary, 20|primary ciliary dyskinesia 20 with or without situs inversus|ciliary dyskinesia, primary, 20, with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC114|ciliary dyskinesia, primary, 20; CILD20|CILD20|ciliary dyskinesia, primary, type 20 MONDO:0016695 oligodendroglioma biolink:Disease mondo Orphanet:251627|ICD10:C71.9|ICDO:9450/3|DOID:3181|MedDRA:10030286|NCIT:C3288|GARD:0009953|MESH:D009837|ONCOTREE:ODG|ICD10:C79.1 A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO) MEDDRA:10030286|ORPHA:251627|NCIT:C3288|UMLS:C0028945|MESH:D009837|DOID:3181 http://purl.obolibrary.org/obo/MONDO_0016695 oligodendroglioma, NOS|WHO grade II oligodendroglial tumor|well differentiated oligodendroglioma|WHO grade II oligodendroglial neoplasm|oligodendroglioma|well differentiated oligodendroglial tumor|oligodendroglial neoplasm|oligodendroglial tumor ordo_disease MONDO:0016696 anaplastic oligodendroglioma biolink:Disease mondo MedDRA:10026659|NCIT:C4326|ICDO:9451/3|ICD10:C79.1|Orphanet:251630|EFO:0002501|GARD:0009472|UMLS:C0334590|ICD10:C71.9|ONCOTREE:AODG A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). ORPHA:251630|NCIT:C4326|MEDDRA:10026659|UMLS:C0334590 http://purl.obolibrary.org/obo/MONDO_0016696 oligodendroglioma, malignant|oligodendroglioma, anaplastic, malignant|anaplastic oligodendroglioma|undifferentiated oligodendroglioma|WHO grade III oligodendroglial neoplasm|WHO grade III oligodendroglial tumor|malignant oligodendroglioma ordo_disease|gard_rare MONDO:0016697 low grade ependymoma biolink:Disease mondo Orphanet:251633|UMLS:CN201940|ICD10:D43.2 ORPHA:251633|UMLS:CN201940 http://purl.obolibrary.org/obo/MONDO_0016697 ordo_disease MONDO:0016690 pleomorphic xanthoastrocytoma biolink:Disease mondo ICD10:C71.9|NCIT:C4323|ONCOTREE:PXA|GARD:0010631|DOID:4852|ICDO:9424/3|ICD10:C79.1|Orphanet:251607|UMLS:C0334586 A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults. NCIT:C4323|UMLS:C0334586|DOID:4852|ORPHA:251607 http://purl.obolibrary.org/obo/MONDO_0016690 pleomorphic Xantho-astrocytoma|PXA ordo_disease|gard_rare MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome biolink:Disease mondo ICD10:G11.4|UMLS:C3554449|Orphanet:404473|GARD:0003505|DOID:0070049|OMIM:615075 Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person. ORPHA:404473|http://identifiers.org/omim/615075|DOID:0070049|UMLS:C3554449 http://purl.obolibrary.org/obo/MONDO_0014035 intellectual disability, autosomal dominant type 19|MRD19|mental retardation, autosomal dominant 19|intellectual disability, autosomal dominant 19|autosomal dominant mental retardation 19|autosomal dominant intellectual disability 19|mental retardation, autosomal dominant 19; MRD19|autosomal dominant non-syndromic intellectual disability 19|CTNNB1-related intellectual disability|intellectual disability, autosomal dominant 19; MRD19|mental retardation, autosomal dominant type 19 gard_rare|ordo_malformation_syndrome MONDO:0016691 pilocytic astrocytoma biolink:Disease mondo GARD:0009808|ICD10:C79.1|NCIT:C4047|Orphanet:251612|SCTID:763865009|DOID:4851|ICD10:C71.9|ONCOTREE:PAST|ICDO:9421/1|UMLS:C0334583 Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. ORPHA:251612|UMLS:C0334583|SNOMEDCT:763865009|DOID:4851|NCIT:C4047 http://purl.obolibrary.org/obo/MONDO_0016691 Piloid astrocytoma|grade I astrocytic neoplasm|astrocytoma, pilocytic, benign|astrocytoma, benign|grade I astrocytic tumor|grade I astrocytoma|pilocytic astrocytoma ordo_disease MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C3554448|Orphanet:363686|GARD:0012815|DOID:0070048|OMIM:615074 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3. http://identifiers.org/omim/615074|DOID:0070048|ORPHA:363686|UMLS:C3554448 http://purl.obolibrary.org/obo/MONDO_0014034 mental retardation, autosomal dominant type 18|intellectual disability, autosomal dominant type 18|GATAD2B-associated neurodevelopmental disorder|MRD18|mental retardation, autosomal dominant 18|autosomal dominant intellectual disability 18|autosomal dominant mental retardation 18|intellectual disability, autosomal dominant 18|mental retardation, autosomal dominant 18; MRD18|autosomal dominant non-syndromic intellectual disability 18|intellectual disability, autosomal dominant 18; MRD18 ordo_disease MONDO:0014033 dystonia 25 biolink:Disease mondo OMIM:615073|UMLS:C3554447|ICD10:G24.1|DOID:0090055|Orphanet:329466 Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia. http://identifiers.org/omim/615073|ORPHA:329466|DOID:0090055|UMLS:C3554447 http://purl.obolibrary.org/obo/MONDO_0014033 dystonia type 25|dystonia 25; DYT25|dystonic disorder caused by mutation in GNAL|dystonia 25|autosomal dominant focal dystonia, DYT25 type|GNAL dystonic disorder|DYT25 ordo_disease MONDO:0016692 pilomyxoid astrocytoma biolink:Disease mondo ICD10:C71.9|Orphanet:251615|ICDO:9425/3|DOID:4845|UMLS:C1519086|ONCOTREE:PMA|NCIT:C40315 An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive. ORPHA:251615|NCIT:C40315|UMLS:C1519086|DOID:4845 http://purl.obolibrary.org/obo/MONDO_0016692 PMA ordo_histopathological_subtype MONDO:0014032 brachydactyly type A1C biolink:Disease mondo UMLS:C3554446|OMIM:615072|DOID:0110977 Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene. DOID:0110977|http://identifiers.org/omim/615072|UMLS:C3554446 http://purl.obolibrary.org/obo/MONDO_0014032 brachydactyly type A1 caused by mutation in GDF5|GDF5 brachydactyly type A1|brachydactyly, type A1, C|brachydactyly, type A1, C; BDA1C|BDA1C MONDO:0016693 subependymal giant cell astrocytoma biolink:Disease mondo DOID:5077|SCTID:449799008|ICDO:9384/1|UMLS:C0205768|GARD:0010632|NCIT:C3696|ICD10:D43.2|Orphanet:251618 A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO) ORPHA:251618|NCIT:C3696|DOID:5077|SNOMEDCT:449799008|UMLS:C0205768 http://purl.obolibrary.org/obo/MONDO_0016693 subependymal giant cell astrocytoma (morphologic abnormality)|subependymal giant cell astrocytic neoplasm|subependymal giant cell astrocytic tumor|SEGA ordo_disease|gard_rare MONDO:0002039 cognitive disorder biolink:Disease mondo ICD10:F09|DOID:1561|NCIT:C92196|ICD9:294.9|SCTID:443265004|COHD:374009|MESH:D019965|EFO:1001457 A disease affects cognitive processes. NCIT:C92196|SNOMEDCT:443265004|MESH:D019965|DOID:1561 http://purl.obolibrary.org/obo/MONDO_0002039 cognitive disorder|organic mental disorder|cognitive disease HGNC:31948 CEACAM16 biolink:OntologyClass mondo http://identifiers.org/hgnc/31948 MONDO:0002035 colon lymphoma biolink:Disease mondo ICD9:202.80|DOID:1523|UMLS:C0519037|NCIT:C4793|SCTID:133751000119102 An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas. SNOMEDCT:133751000119102|DOID:1523|NCIT:C4793|UMLS:C0519037 http://purl.obolibrary.org/obo/MONDO_0002035 colon lymphoma|lymphoma of the colon|lymphoma of colon|primary colon lymphoma|colonic lymphoma MONDO:0004698 intestine carcinoma in situ biolink:Disease mondo DOID:9024|UMLS:C0685941|SCTID:92617001|ICD9:230.7|ICD10:D01.4 A carcinoma in situ involving a intestine. DOID:9024|UMLS:C0685941|SNOMEDCT:92617001 http://purl.obolibrary.org/obo/MONDO_0004698 intestine in situ carcinoma|carcinoma in situ of intestine|stage 0 intestine carcinoma MONDO:0002036 penile disease biolink:Disease mondo ICD9:607.89|MESH:D010409|ICD9:607.8|ICD10:N48.8|SCTID:33958003|DOID:1529|NCIT:C26846|UMLS:C0030846|ICD10:N48.89|ICD9:607.9 A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. SNOMEDCT:33958003|MESH:D010409|DOID:1529|NCIT:C26846|UMLS:C0030846 http://purl.obolibrary.org/obo/MONDO_0002036 disease of penis|penile disorder|penis disease or disorder|penile disease|disorder of penis|penis disease|disorder of penis|disease or disorder of penis MONDO:0004697 esophageal leukoplakia (disease) biolink:Disease mondo UMLS:C0267095|DOID:9021|HP:0012859|NCIT:C3953|SCTID:89057003|ICD9:530.83 A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma. DOID:9021|SNOMEDCT:89057003|UMLS:C0267095|NCIT:C3953 http://purl.obolibrary.org/obo/MONDO_0004697 leukoplakia of esophagus|leukoplakia of the esophagus|esophageal leukoplakia|esophageal epidermoid metaplasia|esophagus leukoplakia MONDO:0002037 pleural disease biolink:Disease mondo NCIT:C26859|UMLS:C0032226|MESH:D010995|ICD9:518.89|SCTID:88075009|DOID:1532 A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor. SNOMEDCT:88075009|DOID:1532|MESH:D010995|NCIT:C26859|UMLS:C0032226 http://purl.obolibrary.org/obo/MONDO_0002037 non-neoplastic pleural disease|disease of pleura|disease or disorder of pleura|disorder of pleura|pleura disease|pleural disorders|pleura disease or disorder|disorder of pleura|pleural disorder UBERON:2001073 axial vasculature biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_2001073 MONDO:0004699 gastrointestinal lymphoma biolink:Disease mondo UMLS:C0740372|NCIT:C38162|SCTID:449072004|ICD9:202.80|DOID:903 A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. DOID:903|NCIT:C38162|SNOMEDCT:449072004|UMLS:C0740372 http://purl.obolibrary.org/obo/MONDO_0004699 gastrointestinal lymphoma|lymphoma of digestive system|digestive system lymphoma|primary digestive system lymphoma|primary gastrointestinal lymphoma MONDO:0002038 head and neck carcinoma biolink:Disease mondo DOID:1542|UMLS:C3887461|UMLS:C1334927|NCIT:C35850 A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. DOID:1542|UMLS:C1334927|NCIT:C35850|UMLS:C3887461 http://purl.obolibrary.org/obo/MONDO_0002038 head and neck cancer|carcinoma of craniocervical region|carcinoma of the head and neck|craniocervical region carcinoma|carcinoma of head and neck|carcinoma of the neck|carcinoma of neck|neck carcinoma|head and neck carcinoma MONDO:0004694 hepatopulmonary syndrome biolink:Disease mondo ICD10:K76.81|ICD9:573.5|GARD:0013384|COHD:4159144|MESH:D020065|EFO:1001346|ICD9:417.8|SCTID:371067004|UMLS:C0600452|DOID:900 Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases. UMLS:C0600452|SNOMEDCT:371067004|MESH:D020065|DOID:900 http://purl.obolibrary.org/obo/MONDO_0004694 gard_rare MONDO:0002031 cecal disease biolink:Disease mondo DOID:1518|MESH:D002429|SCTID:128525008|UMLS:C0007527 Pathological developments in the cecum. SNOMEDCT:128525008|UMLS:C0007527|DOID:1518|MESH:D002429 http://purl.obolibrary.org/obo/MONDO_0002031 disorder of caecum|disease of caecum|disease or disorder of caecum|disorder of caecum|caecum disease|caecum disease or disorder NCBITaxon:11604 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11604 MONDO:0002032 colon carcinoma biolink:Disease mondo UMLS:C0699790|NCIT:C4910|SCTID:269533000|EFO:1001950|DOID:1520 A carcinoma that arises from epithelial cells of the colon DOID:1520|SNOMEDCT:269533000|NCIT:C4910|UMLS:C0699790 http://purl.obolibrary.org/obo/MONDO_0002032 carcinoma of the colon|colonic carcinoma|colon carcinoma|carcinoma of colon|colon cancer MONDO:0004693 squamous carcinoma in situ biolink:Disease mondo NCIT:C27093|ICDO:8077/2|UMLS:C0334245|ICDO:8070/2 A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues. UMLS:C0334245|NCIT:C27093 http://purl.obolibrary.org/obo/MONDO_0004693 stage 0 uterine cervix carcinoma|squamous cell carcinoma in-situ|stage 0 squamous cell carcinoma|epidermoid cell carcinoma in situ|cervical intraepithelial neoplasia grade III with severe dysplasia|carcinoma in situ of uterine cervix|carcinoma, squamous cell, in situ, malignant|grade 3 SIN|grade III squamous intraepithelial neoplasia|epidermoid carcinoma in situ|intraepithelial squamous cell carcinoma|CIN III|uterine cervix in situ carcinoma|severe dysplasia of the cervix uteri|carcinoma in situ of cervix|CIN III - severe dyskaryosis|CIN III - carcinoma in situ of cervix|squamous carcinoma in situ|severe dysplasia of cervix|squamous intraepithelial neoplasia, grade III|cervix Ca in situ|squamous cell carcinoma in situ|grade III SIN|grade 3 squamous intraepithelial neoplasia MONDO:0004696 larynx carcinoma in situ biolink:Disease mondo COHD:24897|ICD10:D02.0|SCTID:92634009|DOID:9011|NCIT:C9100|ICD9:231.0|UMLS:C0154069 A in situ carcinoma that involves the larynx. UMLS:C0154069|DOID:9011|SNOMEDCT:92634009|NCIT:C9100 http://purl.obolibrary.org/obo/MONDO_0004696 laryngeal carcinoma in situ|stage 0 carcinoma of larynx|stage 0 laryngeal carcinoma in situ|larynx in situ carcinoma|stage 0 larynx carcinoma|stage 0 laryngeal carcinoma|laryngeal carcinoma stage 0|larynx carcinoma in situ|stage 0 laryngeal cancer|stage 0 laryngeal throat cancer|carcinoma in situ of larynx|laryngeal cancer stage 0|stage 0 laryngeal cancer aJCC v6, v7, and V8|stage 0 laryngeal cancer aJCC v8|carcinoma in situ of the larynx|stage 0 laryngeal cancer aJCC v7|stage 0 carcinoma of the larynx|stage 0 laryngeal cancer aJCC v6 MONDO:0002033 cecum cancer biolink:Disease mondo NCIT:C9329|ICD10:C18.0|ICD9:153.4|COHD:443391|DOID:1521|UMLS:C0153437 A malignant neoplasm involving the caecum DOID:1521|UMLS:C0153437|NCIT:C9329 http://purl.obolibrary.org/obo/MONDO_0002033 malignant neoplasm of caecum|malignant tumor of the cecum|malignant caecum neoplasm|malignant tumor of cecum|malignant cecum neoplasm|cancer of caecum|malignant neoplasm of the cecum|malignant neoplasm of cecum|caecum cancer|malignant cecum tumor MONDO:0004695 liver lymphoma biolink:Disease mondo UMLS:C1112746|NCIT:C4949|DOID:901 A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma. UMLS:C1112746|NCIT:C4949|DOID:901 http://purl.obolibrary.org/obo/MONDO_0004695 liver lymphoma|hepatic lymphoma|primary hepatic lymphoma|primary liver lymphoma|lymphoma of the liver|lymphoma of liver MONDO:0002034 cecum lymphoma biolink:Disease mondo UMLS:C1332867|NCIT:C5515|DOID:1522 An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas. DOID:1522|NCIT:C5515|UMLS:C1332867 http://purl.obolibrary.org/obo/MONDO_0002034 lymphoma of the cecum|caecum lymphoma|lymphoma of cecum|lymphoma of caecum|cecum lymphoma|cecal lymphoma|primary cecum lymphoma MONDO:0004690 tonsillar fossa cancer biolink:Disease mondo ICD9:146.1|UMLS:C0153384|SCTID:363394001|DOID:8969|ICD10:C09.0 A cancer involving a tonsillar fossa. UMLS:C0153384|SNOMEDCT:363394001|DOID:8969 http://purl.obolibrary.org/obo/MONDO_0004690 malignant neoplasm of tonsillar fossa|malignant tumor of tonsillar fossa|tonsillar fossa cancer|cancer of tonsillar fossa|malignant tonsillar fossa neoplasm NCBITaxon:11608 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11608 MONDO:0004692 obsolete choledochal cyst biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004692 MONDO:0004691 autosomal dominant polycystic kidney disease biolink:Disease mondo NCIT:C84578|SCTID:765330003|ICD9:753.13|ICD9:753.12|GARD:0010413|ICD10:Q61.3|EFO:1001496|Orphanet:730|UMLS:CN119611|DOID:898|MESH:D016891 Autosomal dominant form of polycystic kidney disease. NCIT:C84578|MESH:D016891|SNOMEDCT:765330003|UMLS:CN119611|ORPHA:730|DOID:898 http://purl.obolibrary.org/obo/MONDO_0004691 polycystic kidney disease, autosomal dominant|congenital biliary ectasias|ADPKD|polycystic kidney and hepatic disease 1 MONDO:0002030 chronic cervicitis biolink:Disease mondo NCIT:C27057|SCTID:56728002|DOID:1513|UMLS:C0269062 Chronic inflammation of the cervix. UMLS:C0269062|DOID:1513|NCIT:C27057|SNOMEDCT:56728002 http://purl.obolibrary.org/obo/MONDO_0002030 chronic cervicitis (disease)|cervicitis (disease), chronic MONDO:0014028 distal arthrogryposis type 5D biolink:Disease mondo GARD:0013059|OMIM:615065|Orphanet:329457|UMLS:C3554415|ICD10:Q68.8 Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. UMLS:C3554415|http://identifiers.org/omim/615065|ORPHA:329457 http://purl.obolibrary.org/obo/MONDO_0014028 distal arthrogryposis type 5 without ophthalmoparesis|DA5D|arthrogryposis, distal, type 5D; DA5D|ECEL1 distal arthrogryposis|distal arthrogryposis type 5 without ophthalmoplegia|arthrogryposis, distal, type 5D|distal arthrogryposis caused by mutation in ECEL1 ordo_disease|gard_rare MONDO:0014027 hypotrichosis 11 biolink:Disease mondo UMLS:C3554409|OMIM:615059|DOID:0110708 Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene. UMLS:C3554409|DOID:0110708|http://identifiers.org/omim/615059 http://purl.obolibrary.org/obo/MONDO_0014027 hypt11|hypotrichosis 11|hypotrichosis type 11|HYPT11|hypotrichosis 11; HYPT11|SNRPE hypotrichosis|hypotrichosis caused by mutation in SNRPE MONDO:0014026 congenital stationary night blindness 1F biolink:Disease mondo UMLS:C3554399|OMIM:615058|DOID:0110864 Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene. UMLS:C3554399|DOID:0110864|http://identifiers.org/omim/615058 http://purl.obolibrary.org/obo/MONDO_0014026 congenital stationary night blindness type 1F|congenital stationary night blindness caused by mutation in LRIT3|CSNB1F|night blindness, congenital stationary, type 1F; CSNB1F|night blindness, congenital stationary, type 1F|LRIT3 congenital stationary night blindness|congenital stationary night blindness 1F autosomal recessive MONDO:0014025 lower motor neuron syndrome with late-adult onset biolink:Disease mondo UMLS:C3554398|ICD10:G12.1|OMIM:615048|Orphanet:276435 UMLS:C3554398|ORPHA:276435|http://identifiers.org/omim/615048 http://purl.obolibrary.org/obo/MONDO_0014025 SMAJ|spinal muscular atrophy, Jokela type|spinal muscular atrophy, Jokela type; SMAJ ordo_disease MONDO:0016687 protoplasmic astrocytoma biolink:Disease mondo UMLS:C0334580|ICD10:C71.9|NCIT:C4320|Orphanet:251598|DOID:7008|ICDO:9410/3 A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO) ORPHA:251598|NCIT:C4320|DOID:7008|UMLS:C0334580 http://purl.obolibrary.org/obo/MONDO_0016687 protoplasmic astrocytoma (morphologic abnormality)|protoplasmic astrocytoma|protoplasmic astrocytic tumor ordo_histopathological_subtype MONDO:0016688 fibrillary astrocytoma biolink:Disease mondo MedDRA:10065889|ICDO:9420/3|NCIT:C4322|Orphanet:251601|DOID:6726|UMLS:C0334582|ICD10:C71.9 The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO) ORPHA:251601|NCIT:C4322|UMLS:C0334582|DOID:6726|MEDDRA:10065889 http://purl.obolibrary.org/obo/MONDO_0016688 diffuse astrocytoma|fibrillary astrocytic tumors|fibrillary astrocytoma ordo_histopathological_subtype MONDO:0016689 gemistocytic astrocytoma biolink:Disease mondo DOID:7005|UMLS:C0334581|ICD10:C71.9|Orphanet:251604|NCIT:C4321|ICDO:9411/3 A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO) ORPHA:251604|NCIT:C4321|DOID:7005|UMLS:C0334581 http://purl.obolibrary.org/obo/MONDO_0016689 gemistocytic astrocytoma (morphologic abnormality)|gemistocytic astrocytic tumor|Gemistocytoma|gemistocytic astrocytoma ordo_histopathological_subtype MONDO:0014029 osteogenesis imperfecta type 14 biolink:Disease mondo DOID:0110343|UMLS:C3554428|OMIM:615066|ICD10:Q78.0 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene. DOID:0110343|UMLS:C3554428|http://identifiers.org/omim/615066 http://purl.obolibrary.org/obo/MONDO_0014029 osteogenesis imperfecta, type XIV; OI14|osteogenesis imperfecta caused by mutation in TMEM38B|osteogenesis imperfecta, type 14|OI, type 14|osteogenesis imperfecta type XIV|osteogenesis imperfecta, type XIV|OI14|TMEM38B osteogenesis imperfecta MONDO:0014020 hereditary spastic paraplegia 55 biolink:Disease mondo ICD10:G11.4|Orphanet:320375|OMIM:615035|UMLS:C4510214|DOID:0110807|SCTID:723825006|UMLS:C3539506 DOID:0110807|http://identifiers.org/omim/615035|UMLS:C4510214|SNOMEDCT:723825006|ORPHA:320375|UMLS:C3539506 http://purl.obolibrary.org/obo/MONDO_0014020 spastic paraplegia 55, autosomal recessive|autosomal recessive spastic paraplegia type 55|autosomal recessive spastic paraplegia 55|spastic paraplegia 55, autosomal recessive; SPG55|SPG55|hereditary spastic paraplegia type 55 ordo_disease MONDO:0016683 gliomatosis cerebri biolink:Disease mondo UMLS:C0334576|ICD10:C71.0|MedDRA:10066254|DOID:6128|ICDO:9381/3|GARD:0006514|Orphanet:251582|NCIT:C4318 A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.) ORPHA:251582|NCIT:C4318|UMLS:C0334576|MEDDRA:10066254|DOID:6128 http://purl.obolibrary.org/obo/MONDO_0016683 gliomatosis cerebri|gliomatosis cerebri (morphologic abnormality)|gliomatosis|astrocytosis cerebri ordo_disease|gard_rare MONDO:0016684 anaplastic astrocytoma biolink:Disease mondo DOID:3078|MedDRA:10060971|ONCOTREE:AASTR|UMLS:C0334579|MedDRA:10002224|Orphanet:251589|ICDO:9401/3|ICD10:C71.9|NCIT:C9477|EFO:0002499|GARD:0005860 Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord. MEDDRA:10002224|ORPHA:251589|MEDDRA:10060971|UMLS:C0334579|NCIT:C9477|DOID:3078 http://purl.obolibrary.org/obo/MONDO_0016684 high-grade astrocytoma, NOS|grade III astrocytic neoplasm|anaplastic astrocytoma|astrocytoma, anaplastic, malignant|grade III astrocytic tumor|malignant astrocytoma|grade III astrocytoma ordo_disease MONDO:0016685 low-grade astrocytoma biolink:Disease mondo MedDRA:10065869|Orphanet:251592 ORPHA:251592|MEDDRA:10065869|UMLS:C1314694 http://purl.obolibrary.org/obo/MONDO_0016685 ordo_group_of_disorders MONDO:0016686 diffuse astrocytoma biolink:Disease mondo ONCOTREE:DASTR|GARD:0005907|ICD10:C71.9|NCIT:C7173|Orphanet:251595|UMLS:C0280785 A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified. UMLS:C0280785|ORPHA:251595|NCIT:C7173 http://purl.obolibrary.org/obo/MONDO_0016686 astrocytoma, diffuse|grade II astrocytic neoplasm|diffuse astrocytoma|protoplasmic astrocytoma (histologic variant)|fibrillary astrocytoma (histologic variant)|low-grade astrocytoma, NOS|astrocytoma, diffuse, malignant|low-grade diffuse astrocytoma|gemistocytic astrocytoma (histologic variant)|grade II astrocytic tumor|WHO grade II astrocytoma|grade II astrocytoma ordo_disease MONDO:0014024 hereditary spastic paraplegia 43 biolink:Disease mondo ICD10:G11.4|SCTID:764736001|UMLS:C2680446|DOID:0110795|OMIM:615043|Orphanet:320370 Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. DOID:0110795|http://identifiers.org/omim/615043|SNOMEDCT:764736001|UMLS:C2680446|ORPHA:320370 http://purl.obolibrary.org/obo/MONDO_0014024 autosomal recessive spastic paraplegia 43|C19orf12 autosomal recessive complex spastic paraplegia|autosomal recessive complex spastic paraplegia caused by mutation in C19orf12|SPG43|hereditary spastic paraplegia type 43|spastic paraplegia 43, autosomal recessive; SPG43|spastic paraplegia 43, autosomal recessive|autosomal recessive spastic paraplegia type 43 ordo_disease HGNC:18971 AP1S3 biolink:OntologyClass mondo http://identifiers.org/hgnc/18971 MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy biolink:Disease mondo ICD10:E77.8|OMIM:615042|Orphanet:329178|UMLS:C3554385|GARD:0012416 UMLS:C3554385|http://identifiers.org/omim/615042|ORPHA:329178 http://purl.obolibrary.org/obo/MONDO_0014023 congenital disorder of glycosylation type 1u|CDG-Iu|carbohydrate deficient glycoprotein syndrome type Iu|CDG Iu|CDG1U|CDG syndrome type Iu|congenital disorder of glycosylation type Iu|congenital disorder of glycosylation, type Iu; CDG1U|CMD with intellectual disability and severe epilepsy|DPM2-CDG|congenital disorder of glycosylation, type Iu ordo_disease MONDO:0016680 high grade astrocytic tumor biolink:Disease mondo NCIT:C102897|UMLS:C3640999|Orphanet:251561 An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor). ORPHA:251561|UMLS:C3640999|NCIT:C102897 http://purl.obolibrary.org/obo/MONDO_0016680 high-grade astrocytoma|high grade astrocytic tumor|high-grade astrocytic tumor|high-grade astrocytic neoplasm|high grade astrocytic neoplasm ordo_group_of_disorders MONDO:0016681 gliosarcoma biolink:Disease mondo MedDRA:10018340|GARD:0005653|ICDO:9442/3|ICD10:G71.9|UMLS:C0206726|DOID:3071|Orphanet:251576|EFO:1001465|ONCOTREE:GSARC|NCIT:C3796|MESH:D018316 A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO). ORPHA:251576|NCIT:C3796|MEDDRA:10018340|DOID:3071|UMLS:C0206726|MESH:D018316 http://purl.obolibrary.org/obo/MONDO_0016681 sarcomatous glioblastoma|glioblastoma with a sarcomatous component|gliosarcoma|glioblastoma with sarcomatous component ordo_histopathological_subtype|gard_rare MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 biolink:Disease mondo UMLS:C3554381|OMIM:615041 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene. http://identifiers.org/omim/615041|UMLS:C3554381 http://purl.obolibrary.org/obo/MONDO_0014022 muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10|RXYLT1 muscular dystrophy-dystroglycanopathy, type A|MDDGA10|Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10; MDDGA10 MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement biolink:Disease mondo Orphanet:391389|OMIM:615040|UMLS:CN204968|ICD10:M79.6|UMLS:C3808667 UMLS:C3808667|http://identifiers.org/omim/615040|UMLS:CN204968|ORPHA:391389 http://purl.obolibrary.org/obo/MONDO_0014021 episodic pain syndrome, familial, type 1|FEPS1|episodic pain syndrome, familial, 1|episodic pain syndrome, familial, 1; FEPS1 ordo_clinical_subtype MONDO:0016682 giant cell glioblastoma biolink:Disease mondo DOID:3074|ICDO:9441/3|Orphanet:251579|NCIT:C4325|UMLS:C0334588|ICD10:C71.9|UMLS:C0334593 A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO) ORPHA:251579|NCIT:C4325|UMLS:C0334588|UMLS:C0334593|DOID:3074 http://purl.obolibrary.org/obo/MONDO_0016682 Monstrocellular sarcoma [obs]|Monstrocellular sarcoma ordo_histopathological_subtype MONDO:0002046 alcohol abuse biolink:Disease mondo MESH:D000437|COHD:433753|ICD9:305.0|ICD10:F10.1|SCTID:15167005|DOID:1574|ICD9:305.00 The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice. NCIT:C20701|DOID:1574|MESH:D000437|SNOMEDCT:15167005 http://purl.obolibrary.org/obo/MONDO_0002046 alcohol addiction|addiction, alcohol|alcohol abuse|alcohol dependence|ethanol abuse|alcoholic intoxication, chronic|intoxication, chronic alcoholic|alcohol use disorder|alcoholism|chronic alcoholic intoxication|abuse, alcohol|dependence, alcohol MONDO:0002047 pulmonary systemic sclerosis biolink:Disease mondo SCTID:196133001|DOID:1578|ICD10:M34.81|ICD9:517.2|COHD:255304|UMLS:C0339904 UMLS:C0339904|DOID:1578|SNOMEDCT:196133001 http://purl.obolibrary.org/obo/MONDO_0002047 lung involvement in systemic sclerosis|scleroderma of lung|scleroderma lung disease|lung disease with systemic sclerosis MONDO:0002048 thrombocytopenia due to immune destruction biolink:Disease mondo GARD:0006768|NCIT:C3991|DOID:1587 A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus). DOID:1587|NCIT:C3991 http://purl.obolibrary.org/obo/MONDO_0002048 auto-immune thrombocytopenia|thrombocytopenia due to platelet alloimmunization|thrombocytopenia due to immune destruction|immune thrombocytopenia MONDO:0002049 thrombocytopenia biolink:Disease mondo MESH:D013921|UMLS:C0040034|ICD9:287.5|UMLS:CN130080|ICD10:D69.6|SCTID:302215000|NCIT:C3408|DOID:1588 A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. MESH:D013921|UMLS:C0040034|UMLS:CN130080|DOID:1588|NCIT:C3408|SNOMEDCT:302215000 http://purl.obolibrary.org/obo/MONDO_0002049 platelet count decreased|thrombocytopenic disorder MONDO:0002042 mechanical ectropion biolink:Disease mondo UMLS:C0155194|ICD9:374.12|DOID:1569|SCTID:45020000|ICD10:H02.121-129|COHD:379813 An ectropion with a mechanical etiology. DOID:1569|SNOMEDCT:45020000|UMLS:C0155194 http://purl.obolibrary.org/obo/MONDO_0002042 MONDO:0002043 ectropion (disease) biolink:Disease mondo DOID:1570|COHD:376132|ICD9:374.1|ICD10:H02.109|ICD10:H02.10|SCTID:62909004|UMLS:C0013592|HP:0000656|MESH:D004483|ICD10:H02.1|ICD9:374.10 The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed) DOID:1570|MESH:D004483|UMLS:C0013592|SNOMEDCT:62909004 http://purl.obolibrary.org/obo/MONDO_0002043 ectropion of eyelid|everted margin|ectropion MONDO:0002044 spastic ectropion biolink:Disease mondo DOID:1571|SCTID:80846000|ICD9:374.13|UMLS:C0155195 UMLS:C0155195|DOID:1571|SNOMEDCT:80846000 http://purl.obolibrary.org/obo/MONDO_0002044 HGNC:28303 ODAD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/28303 NCBITaxon:11617 Arenaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11617 MONDO:0002045 communicating hydrocephalus biolink:Disease mondo SCTID:271569006|NCIT:C34501|COHD:440700|UMLS:C0009451|ICD10:G91.0|DOID:1573|ICD9:331.3 An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. DOID:1573|SNOMEDCT:271569006|UMLS:C0009451|NCIT:C34501 http://purl.obolibrary.org/obo/MONDO_0002045 non-obstructive hydrocephalus NCBITaxon:11619 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11619 MONDO:0002040 dermatomycosis biolink:Disease mondo UMLS:C0011630|MESH:D003881|ICD9:111|DOID:1563|ICD9:111.9 Superficial infections of the skin or its appendages by any of various fungi. DOID:1563|MESH:D003881|UMLS:C0011630 http://purl.obolibrary.org/obo/MONDO_0002040 MONDO:0002041 fungal infectious disease biolink:Disease mondo ICD9:110-118.99|ICD10:B35-B49|NCIT:C3245|MESH:D009181|ICD10:B35.B49|ICD10:B49|ICD9:117.9|COHD:433701|DOID:1564|SCTID:3218000 An infection caused by a fungus. SNOMEDCT:3218000|DOID:1564|NCIT:C3245|MESH:D009181 http://purl.obolibrary.org/obo/MONDO_0002041 fungal infection|Fungi disease or disorder|Fungi infection|Fungi infectious disease|Fungi caused disease or disorder|mycosis|mycoses|infection, fungal|infections, Fungi MONDO:0014017 autism, susceptibility to, 18 biolink:Disease mondo OMIM:615032 http://identifiers.org/omim/615032 http://purl.obolibrary.org/obo/MONDO_0014017 autism, susceptibility to, type 18|AUTS18|susceptibility to autism 18|autism, susceptibility to, 18|autism, susceptibility to, 18; AUTS18 predisposition MONDO:0014016 hereditary spastic paraplegia 49 biolink:Disease mondo DOID:0110801|OMIM:615031|UMLS:C3542549|Orphanet:320385|ICD10:G11.4 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene. ORPHA:320385|UMLS:C3542549|DOID:0110801|http://identifiers.org/omim/615031 http://purl.obolibrary.org/obo/MONDO_0014016 autosomal recessive spastic paraplegia type 49|hereditary spastic paraplegia type 49|SPG49|spastic paraplegia 49, autosomal recessive; SPG49|autosomal recessive spastic paraplegia 49|spastic paraplegia 49, autosomal recessive|TECPR2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in TECPR2 ordo_disease MONDO:0014015 hereditary spastic paraplegia 56 biolink:Disease mondo Orphanet:320411|UMLS:C3539507|ICD10:G11.4|DOID:0110808|OMIM:615030 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene. UMLS:C3539507|ORPHA:320411|DOID:0110808|http://identifiers.org/omim/615030 http://purl.obolibrary.org/obo/MONDO_0014015 autosomal recessive spastic paraplegia 56|spastic paraplegia 56, autosomal recessive|hereditary spastic paraplegia caused by mutation in CYP2U1|CYP2U1 hereditary spastic paraplegia|SPG56|spastic paraplegia 56, autosomal recessive; SPG56|autosomal recessive spastic paraplegia type 56|hereditary spastic paraplegia type 56 ordo_disease MONDO:0014014 epidermolysis bullosa simplex due to exophilin 5 deficiency biolink:Disease mondo UMLS:C3554367|Orphanet:412189|OMIM:615028|ICD10:Q81.0 UMLS:C3554367|http://identifiers.org/omim/615028|ORPHA:412189 http://purl.obolibrary.org/obo/MONDO_0014014 EBS-AR exophilin 5|epidermolysis bullosa, nonspecific, autosomal recessive|EBNS|epidermolysis bullosa, nonspecific, autosomal recessive; EBNS ordo_disease MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome biolink:Disease mondo UMLS:C1860229|Orphanet:251523|ICD10:E83.2 Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. ORPHA:251523|UMLS:C1860229 http://purl.obolibrary.org/obo/MONDO_0016676 hyperzincemia and hypercalprotectinemia ordo_disease MONDO:0016677 toxic or drug-related embryofetopathy biolink:Disease mondo Orphanet:251529|MESH:D000014 Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. ORPHA:251529|MESH:D000014 http://purl.obolibrary.org/obo/MONDO_0016677 ordo_group_of_disorders MONDO:0016678 maternal disease-related embryofetopathy biolink:Disease mondo Orphanet:251535|UMLS:CN201921 ORPHA:251535|UMLS:CN201921 http://purl.obolibrary.org/obo/MONDO_0016678 ordo_group_of_disorders MONDO:0014019 dystonia 24 biolink:Disease mondo EFO:0009040|Orphanet:420485|UMLS:C3554374|OMIM:615034|DOID:0090052|ICD10:G24.8 Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene. DOID:0090052|UMLS:C3554374|ORPHA:420485|http://identifiers.org/omim/615034 http://purl.obolibrary.org/obo/MONDO_0014019 cranio-cervical dystonia with laryngeal and upper-limb involvement|ANO3 dystonic disorder|dystonia 24|dystonic disorder caused by mutation in ANO3|dystonia type 24|dystonia 24; DYT24|DYT24|DYT-ANO3 ordo_disease MONDO:0014018 hereditary spastic paraplegia 54 biolink:Disease mondo SCTID:723824005|ICD10:G11.4|UMLS:C4510083|UMLS:C3539495|Orphanet:320380|OMIM:615033|DOID:0110806 A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. UMLS:C3539495|ORPHA:320380|DOID:0110806|http://identifiers.org/omim/615033|UMLS:C4510083|SNOMEDCT:723824005 http://purl.obolibrary.org/obo/MONDO_0014018 spastic paraplegia 54, autosomal recessive; SPG54|autosomal recessive spastic paraplegia 54|hereditary spastic paraplegia type 54|spastic paraplegia 54, autosomal recessive|DDHD2 autosomal recessive complex spastic paraplegia|SPG54|autosomal recessive complex spastic paraplegia caused by mutation in DDHD2|autosomal recessive spastic paraplegia type 54 ordo_disease MONDO:0016679 obsolete rare tumor of neuroepithelial tissue biolink:Disease mondo Orphanet:251558 Any of the forms of neuroepithelial neoplasm that have a rare incidence. ORPHA:251558 http://purl.obolibrary.org/obo/MONDO_0016679 rare neuroepithelial neoplasm ordo_group_of_disorders|obsoletion_candidate MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome biolink:Disease mondo Orphanet:251380|UMLS:CN201912|ICD10:D57.2|HGNC:5153|HGNC:3627 ORPHA:251380|UMLS:CN201912 http://purl.obolibrary.org/obo/MONDO_0016672 HPFH-sickle cell disease syndrome ordo_disease HGNC:18986 GBA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18986 MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type biolink:Disease mondo Orphanet:251393|ICD10:Q81.8|UMLS:CN201914|GARD:0012923 Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails. ORPHA:251393|UMLS:CN201914 http://purl.obolibrary.org/obo/MONDO_0016673 JEB-nH loc gard_rare|ordo_clinical_subtype MONDO:0016674 46,XY partial gonadal dysgenesis biolink:Disease mondo SCTID:725045004|UMLS:C4510744|ICD10:Q56.1|Orphanet:251510 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. SNOMEDCT:725045004|ORPHA:251510|UMLS:C4510744 http://purl.obolibrary.org/obo/MONDO_0016674 46,XY partial testicular dysgenesis|46,XY PGD ordo_malformation_syndrome MONDO:0016675 distal arthrogryposis type 10 biolink:Disease mondo MESH:C566069|UMLS:C1861238|SCTID:275336002|Orphanet:251515|ICD10:Q68.8|OMIM:187370 SNOMEDCT:275336002|http://identifiers.org/omim/187370|ORPHA:251515|UMLS:C1861238|MESH:C566069 http://purl.obolibrary.org/obo/MONDO_0016675 arthrogryposis, distal, type 10|short tendo calcaneus|tendo calcaneus, short|distal arthrogryposis type 10|congenital plantar contractures|plantar flexion contracture|short Achilles tendon|DA10|arthrogryposis, distal, type 10; DA10 ordo_malformation_syndrome HGNC:18985 DCXR biolink:OntologyClass mondo http://identifiers.org/hgnc/18985 MONDO:0014013 maternal riboflavin deficiency biolink:Disease mondo Orphanet:411712|ICD10:P00.4|OMIM:615026 ORPHA:411712|http://identifiers.org/omim/615026 http://purl.obolibrary.org/obo/MONDO_0014013 riboflavin deficiency|RBFVD|riboflavin deficiency; RBFVD ordo_disease MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q biolink:Disease mondo UMLS:C3554366|GARD:0012446|Orphanet:329258|OMIM:615025|DOID:0110170|ICD10:G60.0 Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. DOID:0110170|UMLS:C3554366|http://identifiers.org/omim/615025|ORPHA:329258 http://purl.obolibrary.org/obo/MONDO_0014012 Charcot-Marie-Tooth neuropathy, type 2Q|CMT2Q|Charcot-Marie-Tooth disease, axonal, type 2Q|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q|Charcot-Marie-Tooth disease caused by mutation in DHTKD1|DHTKD1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, type 2Q; CMT2Q|autosomal dominant Charcot-Marie-Tooth disease type 2Q|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth neuropathy type 2Q ordo_disease GO:0035592 establishment of protein localization to extracellular region biolink:OntologyClass mondo The directed movement of a protein to a specific location within the extracellular region. http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization in extracellular region|establishment of protein localisation in extracellular region MONDO:0016670 sickle cell-hemoglobin d disease syndrome biolink:Disease mondo Orphanet:251370|MedDRA:10056724|GARD:0012458|ICD10:D57.2|UMLS:C0272084 ORPHA:251370|MEDDRA:10056724|UMLS:C0272084 http://purl.obolibrary.org/obo/MONDO_0016670 sickle cell - hemoglobin D disease|HbSD disease ordo_disease MONDO:0014011 autosomal recessive congenital ichthyosis 10 biolink:Disease mondo ICD10:Q80.2|DOID:0060719|OMIM:615024|UMLS:C3554355 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene. UMLS:C3554355|http://identifiers.org/omim/615024|DOID:0060719 http://purl.obolibrary.org/obo/MONDO_0014011 ichthyosis, congenital, autosomal recessive type 10|ichthyosis, congenital, autosomal recessive 10; ARCI10|ichthyosis, congenital, autosomal recessive 10|autosomal recessive congenital ichthyosis type 10|ARCI10 MONDO:0014010 autosomal recessive congenital ichthyosis 9 biolink:Disease mondo ICD10:Q80.2|DOID:0060718|OMIM:615023|UMLS:C3554349 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene. UMLS:C3554349|DOID:0060718|http://identifiers.org/omim/615023 http://purl.obolibrary.org/obo/MONDO_0014010 ARCI9|ichthyosis, congenital, autosomal recessive type 9|ichthyosis, congenital, autosomal recessive 9; ARCI9|autosomal recessive congenital ichthyosis type 9|ichthyosis, congenital, autosomal recessive 9 MONDO:0016671 sickle cell-hemoglobin E disease syndrome biolink:Disease mondo UMLS:C0272085|ICD10:D57.2|Orphanet:251375 ORPHA:251375|UMLS:C0272085 http://purl.obolibrary.org/obo/MONDO_0016671 HbSE disease ordo_disease HGNC:31928 NBEAL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/31928 MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome biolink:Disease mondo Orphanet:357329|UMLS:C3554687|ICD10:D81.8|OMIM:615207 ORPHA:357329|UMLS:C3554687|http://identifiers.org/omim/615207 http://purl.obolibrary.org/obo/MONDO_0014082 immunodeficiency 56|IL21R immunodeficiency|IMD56|immunodeficiency 56; IMD56 ordo_disease HGNC:31923 LCA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/31923 MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency biolink:Disease mondo UMLS:C3554686|Orphanet:357237|OMIM:615206|ICD10:D81.2 Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. ORPHA:357237|UMLS:C3554686|http://identifiers.org/omim/615206 http://purl.obolibrary.org/obo/MONDO_0014081 CARD11 immunodeficiency|immunodeficiency type 11|IMD11A|immunodeficiency 11|immunodeficiency 11; IMD11|IMD11|immunodeficiency 11; IMD11A|SCID due to CARD11 deficiency ordo_disease MONDO:0014080 osteosclerotic metaphyseal dysplasia biolink:Disease mondo OMIM:615198|Orphanet:500548|UMLS:C3554665 UMLS:C3554665|ORPHA:500548|http://identifiers.org/omim/615198 http://purl.obolibrary.org/obo/MONDO_0014080 OSMD|osteosclerotic metaphyseal dysplasia; OSMD|osteosclerotic metaphyseal dysplasia ordo_malformation_syndrome MONDO:0002097 obsolete ocular melanoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002097 MONDO:0002098 facial nerve disease biolink:Disease mondo DOID:1756|ICD10:G51.9|UMLS:C0015464|ICD9:351|SCTID:422426003|MESH:D005155|NCIT:C27594|ICD10:G51|ICD9:351.9 A disease involving the facial nerve. UMLS:C0015464|SNOMEDCT:422426003|MESH:D005155|NCIT:C27594|DOID:1756 http://purl.obolibrary.org/obo/MONDO_0002098 facial nerve disease or disorder|disorder of facial nerve|disorders of the VIIth cranial nerve|disorders of the seventh nerve|facial nerve disorder|disease of facial nerve|facial neuropathy|disease or disorder of facial nerve|disorder of facial nerve|facial nerve disease|disorder of seventh cranial nerve MONDO:0002099 Histoplasma capsulatum infectious disease biolink:Disease mondo ICD9:115.00|ICD10:B39.4|ICD9:115.0|DOID:1759|SCTID:76255006 An disease or disorder caused by infection with Histoplasma capsulatum. SNOMEDCT:76255006|DOID:1759 http://purl.obolibrary.org/obo/MONDO_0002099 Histoplasma capsulatum caused disease or disorder|infection caused by Histoplasma capsulatum|infection by Histoplasma capsulatum|classical histoplasmosis|small form histoplasmosis|darling's disease|Histoplasma capsulatum disease or disorder|American histoplasmosis MONDO:0002093 acanthoma (disease) biolink:Disease mondo NCIT:C7419|MESH:D049309|UMLS:C0846967|GARD:0008604|HP:0025432|DOID:174 A benign skin neoplasm composed of epithelial cells. DOID:174|MESH:D049309|NCIT:C7419|UMLS:C0846967 http://purl.obolibrary.org/obo/MONDO_0002093 acanthoma MONDO:0002094 obsolete conjunctival squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002094 MONDO:0002095 vascular cancer biolink:Disease mondo MESH:D009383|DOID:175|NCIT:C8538 A malignant neoplasm arising from the blood vessels. DOID:175|MESH:D009383|NCIT:C8538 http://purl.obolibrary.org/obo/MONDO_0002095 malignant blood vessel tumor|cancer of vasculature|malignant great vessel tumor|blood vessel tumor|malignant tumor of pulmonary vein|malignant blood vessel neoplasm|Haemangiomatous tumour|blood vessel tumors|pulmonary artery cancer|malignant vasculature neoplasm|vascular tumors|malignant vascular tumor|blood vessel neoplasm|vasculature cancer|blood vessel tumor (morphologic abnormality)|neoplasm of great vessel|malignant neoplasm of vasculature|leiomyosarcoma of the renal vein|malignant vascular neoplasm|pulmonary vein malignant neoplasm|malignant tumor of pulmonary artery|blood vessel tumors (morphologic abnormality)|blood vessel tumour disorder|vascular tissue neoplasm|renal vein leiomyosarcoma|pulmonary artery malignant neoplasm MONDO:0002096 malignant conjunctival melanoma biolink:Disease mondo GARD:0010744|NCIT:C4550|SCTID:255004001|DOID:1751|UMLS:C0346360|EFO:1000204|ONCOTREE:CM A malignant melanoma within the conjunctiva of the eye. SNOMEDCT:255004001|DOID:1751|NCIT:C4550|UMLS:C0346360 http://purl.obolibrary.org/obo/MONDO_0002096 melanoma of conjunctiva|malignant melanoma of the conjunctiva|malignant conjunctival melanoma|malignant melanoma of conjunctiva|melanoma (disease) of conjunctiva|malignant conjunctiva melanoma|conjunctiva melanoma|CM|conjunctiva melanoma (disease)|melanoma of the conjunctiva|conjunctival melanoma MONDO:0002090 eccrine sweat gland neoplasm biolink:Disease mondo NCIT:C6796|DOID:173|UMLS:C1333371 A neoplasm involving a eccrine sweat gland. NCIT:C6796|UMLS:C1333371|DOID:173 http://purl.obolibrary.org/obo/MONDO_0002090 eccrine neoplasm|eccrine tumor|neoplasm of eccrine sweat gland|eccrine sweat gland tumor|eccrine skin neoplasm|eccrine sweat gland neoplasm (disease)|eccrine neoplasm of skin|eccrine skin tumor|eccrine neoplasm of the skin|eccrine tumor of skin|tumor of eccrine sweat gland|eccrine tumor of the skin MONDO:0002091 obsolete cryptosporidiosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002091 MONDO:0002092 small intestine leiomyoma biolink:Disease mondo SCTID:424279009|DOID:1738|NCIT:C7725|UMLS:C0238197 A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C7725|DOID:1738|SNOMEDCT:424279009|UMLS:C0238197 http://purl.obolibrary.org/obo/MONDO_0002092 small intestinal leiomyoma|leiomyoma of the small bowel|leiomyoma of small bowel|leiomyoma, small intestine|leiomyoma, small bowel|small bowel leiomyoma|leiomyoma of the small intestine|small intestine leiomyoma|leiomyoma of small intestine HGNC:18957 MAGI2 biolink:OntologyClass mondo http://identifiers.org/hgnc/18957 MONDO:0014086 osteogenesis imperfecta type 15 biolink:Disease mondo DOID:0110347|UMLS:C3808844|OMIM:615220|ICD10:Q78.0 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene. DOID:0110347|http://identifiers.org/omim/615220|UMLS:C3808844 http://purl.obolibrary.org/obo/MONDO_0014086 osteogenesis imperfecta caused by mutation in WNT1|osteogenesis imperfecta, type XV|osteogenesis imperfecta type XV|OI, type 15|osteogenesis imperfecta, type 15|OI15|WNT1 osteogenesis imperfecta|osteogenesis imperfecta, type XV; OI15 MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 biolink:Disease mondo UMLS:C3554691|OMIM:615219 Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene. UMLS:C3554691|http://identifiers.org/omim/615219 http://purl.obolibrary.org/obo/MONDO_0014085 hydrocephalus, nonsyndromic, autosomal recessive 2; HYC2|MPDZ congenital hydrocephalus|HYC2|hydrocephalus, nonsyndromic, autosomal recessive 2|congenital hydrocephalus caused by mutation in MPDZ|hydrocephalus, nonsyndromic, autosomal recessive type 2 MONDO:0014084 ataxia with oculomotor apraxia type 3 biolink:Disease mondo GARD:0013112|OMIM:615217|UMLS:C3554690|DOID:0060557 UMLS:C3554690|DOID:0060557|http://identifiers.org/omim/615217 http://purl.obolibrary.org/obo/MONDO_0014084 ataxia-oculomotor apraxia-3|ataxia-oculomotor apraxia type 3|ataxia-oculomotor apraxia 3; AOA3|ataxia-oculomotor apraxia 3|AOA3 MONDO:0014083 agammaglobulinemia 7, autosomal recessive biolink:Disease mondo UMLS:C3554689|OMIM:615214 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene. UMLS:C3554689|http://identifiers.org/omim/615214 http://purl.obolibrary.org/obo/MONDO_0014083 autosomal agammaglobulinemia caused by mutation in PIK3R1|agammaglobulinemia 7, autosomal recessive; AGM7|PIK3R1 autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to PIK3R1 defect|AGM7|agammaglobulinemia 7, autosomal recessive MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome biolink:Disease mondo OMIM:615225|OMIM:616964|UMLS:CN204511|Orphanet:352662|ICD10:Q82.8|UMLS:C3808876 ORPHA:352662|UMLS:C3808876|http://identifiers.org/omim/615225|UMLS:CN204511|http://identifiers.org/omim/616964 http://purl.obolibrary.org/obo/MONDO_0014089 palmoplantar carcinoma, multiple self-healing|MSPC|CIDED|corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|corneal intraepithelial dyskeratosis and ectodermal dysplasia; CIDED|corneal intraepithelial dyskeratosis and ectodermal dysplasia|palmoplantar carcinoma, multiple self-healing; MSPC ordo_disease MONDO:0014088 advanced sleep phase syndrome 2 biolink:Disease mondo UMLS:C3808874|OMIM:615224|DOID:0110012 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene. DOID:0110012|http://identifiers.org/omim/615224|UMLS:C3808874 http://purl.obolibrary.org/obo/MONDO_0014088 advanced sleep phase syndrome, familial, 2|advanced sleep phase syndrome, familial, type 2|familial advanced sleep phase syndrome 2|FASPS2|advanced sleep phase syndrome type 2|advanced sleep phase syndrome caused by mutation in CSNK1D|CSNK1D advanced sleep phase syndrome|advanced sleep phase syndrome, familial, 2; FASPS2 MONDO:0014087 Smith-McCort dysplasia 2 biolink:Disease mondo UMLS:C3714896|OMIM:615222 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene. UMLS:C3714896|http://identifiers.org/omim/615222 http://purl.obolibrary.org/obo/MONDO_0014087 Smc2|Smith-McCort dysplasia 2|RAB33B Smith-McCort dysplasia|Smith-McCort dysplasia type 2|SMITH-McCort dysplasia 2; Smc2|Smith-McCort dysplasia caused by mutation in RAB33B NCBITaxon:11673 Feline immunodeficiency virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11673 feline immunodeficiency virus FIV|FIV MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 biolink:Disease mondo OMIM:615181|UMLS:C3554638 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene. UMLS:C3554638|http://identifiers.org/omim/615181 http://purl.obolibrary.org/obo/MONDO_0014071 muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2|MDDGA11|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11; MDDGA11|Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11|B3GALNT2 muscular dystrophy-dystroglycanopathy, type A NCBITaxon:11676 Human immunodeficiency virus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11676 human immunodeficiency virus type I HIV-1|AIDS virus|human immunodeficiency virus-1 HIV-1|HIV1|human immunodeficiency virus type-1 HIV-1|human immunodeficiency virus type 1, HIV-1|human immunodeficiency virus 1 HIV-1|human immunodeficiency virus HIV-1|Human immunodeficiency virus type 1|human immunodeficiency virus type 1 HIV 1|HIV|LAV-1|HIV-1|human immunodeficiency virus type 1 HIV-1|human immunodeficiency virus type 1 HIV1 MONDO:0014070 oculocutaneous albinism type 7 biolink:Disease mondo OMIM:615179|UMLS:CN204524|DOID:0070100|ICD10:E70.3|SCTID:722059002|UMLS:C3808786|Orphanet:352745 Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination. http://identifiers.org/omim/615179|UMLS:C3808786|UMLS:CN204524|DOID:0070100|ORPHA:352745|SNOMEDCT:722059002 http://purl.obolibrary.org/obo/MONDO_0014070 oculocutaneous albinism caused by mutation in LRMDA|albinism, oculocutaneous, type 7|albinism, oculocutaneous, type VII; OCA7|OCA7|albinism, oculocutaneous, type VII|oculocutaneous albinism type VII|LRMDA oculocutaneous albinism ordo_disease UBERON:2001089 myoseptum biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_2001089 HP:0007754 Macular dystrophy biolink:PhenotypicFeature mondo UMLS:C0730292 Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. http://purl.obolibrary.org/obo/HP_0007754 hposlim_core HGNC:18969 IL31RA biolink:OntologyClass mondo http://identifiers.org/hgnc/18969 MONDO:0014075 cataract 39 multiple types biolink:Disease mondo ICD10:Q12.0|DOID:0110236|OMIM:615188|UMLS:C3808800 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene. DOID:0110236|UMLS:C3808800|http://identifiers.org/omim/615188 http://purl.obolibrary.org/obo/MONDO_0014075 CTRCT39|cataract 39, multiple types|early-onset non-syndromic cataract caused by mutation in CRYGB|autosomal dominant cataract 39 multiple types|CRYGB early-onset non-syndromic cataract|cataract 39, multiple types; CTRCT39 MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate f biolink:Disease mondo Orphanet:352670|DOID:0110206|OMIM:615185|ICD10:G60.0|GARD:0009206|UMLS:C3554654 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. ORPHA:352670|DOID:0110206|UMLS:C3554654|http://identifiers.org/omim/615185 http://purl.obolibrary.org/obo/MONDO_0014074 autosomal dominant intermediate Charcot-Marie-Tooth disease type F|Charcot-Marie-Tooth disease, dominant intermediate F; CMTDIF|Charcot-Marie-Tooth disease, dominant intermediate F|DI-CMTF|Charcot-Marie-Tooth disease, dominant Intermediate type F|GNB4-related intermediate Charcot-Marie-Tooth neuropathy|CMTDIF|Charcot-Marie-Tooth disease dominant intermediate type F ordo_disease MONDO:0014073 dilated cardiomyopathy 1II biolink:Disease mondo ICD10:I42.0|OMIM:615184|UMLS:C3554649|DOID:0110450 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene. DOID:0110450|UMLS:C3554649|http://identifiers.org/omim/615184 http://purl.obolibrary.org/obo/MONDO_0014073 dilated cardiomyopathy type 1II|cardiomyopathy, dilated, 1II; CMD1II|cardiomyopathy, dilated, type 1II|cardiomyopathy, dilated, 1II|CMD1II|familial isolated dilated cardiomyopathy caused by mutation in CRYAB|CRYAB familial isolated dilated cardiomyopathy MONDO:0014072 D,L-2-hydroxyglutaric aciduria biolink:Disease mondo UMLS:C4076194|SCTID:713401006|Orphanet:356978|OMIM:615182|ICD10:E72.8|ICD9:270.8 D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites. ORPHA:356978|http://identifiers.org/omim/615182|UMLS:C4076194|SNOMEDCT:713401006 http://purl.obolibrary.org/obo/MONDO_0014072 D2L2AD|combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia|combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria|D,L-2-hydroxyglutaric acidemia|combined D-2- and L-2-hydroxyglutaric aciduria; D2L2AD|D,L-2-HGA|combined D-2- and L-2-hydroxyglutaric aciduria ordo_disease MONDO:0014079 restless legs syndrome, susceptibility to, 8 biolink:Disease mondo OMIM:615197 http://identifiers.org/omim/615197 http://purl.obolibrary.org/obo/MONDO_0014079 restless legs syndrome, susceptibility to, 8; RLS8|RLS8|restless legs syndrome, susceptibility to, 8 predisposition MONDO:0014078 platelet-type bleeding disorder 15 biolink:Disease mondo UMLS:C3554663|DOID:0111053|OMIM:615193 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene. DOID:0111053|UMLS:C3554663|http://identifiers.org/omim/615193 http://purl.obolibrary.org/obo/MONDO_0014078 ACTN1 inherited bleeding disorder, platelet-type|autosomal dominant macrothrombocytopenia ACTN1-related|bleeding disorder, platelet-type, 15|bleeding disorder, platelet-type, 15; BDPLT15|macrothrombocytopenia, autosomal dominant, ACTN1-related|inherited bleeding disorder, platelet-type caused by mutation in ACTN1|BDPLT15 MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement biolink:Disease mondo Orphanet:352682|ICD10:Q04.3|UMLS:C3554657|OMIM:615191 Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures. ORPHA:352682|UMLS:C3554657|http://identifiers.org/omim/615191 http://purl.obolibrary.org/obo/MONDO_0014077 lissencephaly 5|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement|lissencephaly type 5|lissencephaly type 2 without muscular or ocular involvement|lissencephaly 5; LIS5|LIS5 ordo_disease|clingen MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 biolink:Disease mondo DOID:0070022|UMLS:C3554656|DOID:0070020|OMIM:615190 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33. UMLS:C3554656|http://identifiers.org/omim/615190|DOID:0070022|DOID:0070020 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive type 5|dyskeratosis congenita, autosomal dominant 4|dyskeratosis congenita, autosomal recessive 5|DKCB5|dyskeratosis congenita, autosomal recessive 5; DKCB5|autosomal recessive dyskeratosis congenita 5|autosomal dominant dyskeratosis congenita 4|DKCA4 MONDO:0014060 progressive retinal dystrophy due to retinol transport defect biolink:Disease mondo OMIM:615147|ICD10:H35.5|UMLS:C3554593|Orphanet:352718 ORPHA:352718|UMLS:C3554593|http://identifiers.org/omim/615147 http://purl.obolibrary.org/obo/MONDO_0014060 retinal dystrophy, iris coloboma, and comedogenic acne syndrome|retinal dystrophy, iris coloboma, and comedogenic acne syndrome; RDCCAS|retinol dystrophy-iris coloboma-comedogenic acne syndrome|RDCCAS ordo_disease MONDO:0002079 obsolete neuroendocrine tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002079 NCBITaxon:11646 Lentivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirinae MONDO:0002075 spontaneous tension pneumothorax biolink:Disease mondo UMLS:C0155907|ICD10:J93.0|SCTID:196102003|ICD9:512.0|DOID:1672|COHD:258787 SNOMEDCT:196102003|UMLS:C0155907|DOID:1672 http://purl.obolibrary.org/obo/MONDO_0002075 MONDO:0002076 pneumothorax (disease) biolink:Disease mondo SCTID:36118008|ICD10:J93.1|NCIT:C38006|ICD9:512.8|COHD:253796|DOID:1673|HP:0002107|MESH:D011030 Abnormal presence of air in the pleural cavity. SNOMEDCT:36118008|MESH:D011030|NCIT:C38006|DOID:1673 http://purl.obolibrary.org/obo/MONDO_0002076 pneumothorax MONDO:0002077 low implantation of placenta biolink:Disease mondo ICD9:641.0|DOID:1677|SCTID:7792000|ICD10:O44.0 SNOMEDCT:7792000|DOID:1677 http://purl.obolibrary.org/obo/MONDO_0002077 MONDO:0002078 heart septal defect biolink:Disease mondo ICD9:745.9|SCTID:253273004|NCIT:C84482|UMLS:C0018816|ICD9:745.8|ICD10:Q21|MESH:D006343|COHD:318549|DOID:1681|ICD10:Q21.9 A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. NCIT:C84482|DOID:1681|UMLS:C0018816|SNOMEDCT:253273004|MESH:D006343 http://purl.obolibrary.org/obo/MONDO_0002078 Cardiac septal defects|septal defect NOS|holes in the heart|congenital septal defect|septal defect|congenital septal defect of heart MONDO:0002071 supratentorial cancer biolink:Disease mondo ICD10:C71.0|NCIT:C4964|DOID:1659|MESH:D015173 Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation. NCIT:C4964|DOID:1659|MESH:D015173 http://purl.obolibrary.org/obo/MONDO_0002071 brain neoplasm, supratentorial|malignant supratentorial neoplasm|malignant supratentorial tumor|supratentorial neoplasms, malignant MONDO:0002072 melanotic neuroectodermal tumor biolink:Disease mondo EFO:1001038|MESH:D017600|UMLS:C0206094|ICDO:9363/0|SCTID:404042005|NCIT:C3717|DOID:166 A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course. NCIT:C3717|DOID:166|UMLS:C0206094|SNOMEDCT:404042005|MESH:D017600 http://purl.obolibrary.org/obo/MONDO_0002072 pigmented neuroectodermal tumour of infancy|infantile melanotic neuroectodermal neoplasm|pigmented neuroectodermal tumor|MNTI|melanotic neuroectodermal tumor (morphologic abnormality)|melanotic neuroectodermal tumor of infancy|melanotic neuroectodermal tumor of infancy (morphologic abnormality)|melanotic Progonoma|retinal anlage neoplasm MONDO:0002073 malignant pineal area germ cell neoplasm biolink:Disease mondo UMLS:C0349621|ICD9:239.7|GARD:0012017|SCTID:277508009|UMLS:C1334612|DOID:1660|NCIT:C6767 A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor. UMLS:C1334612|SNOMEDCT:277508009|NCIT:C6767|UMLS:C0349621|DOID:1660 http://purl.obolibrary.org/obo/MONDO_0002073 malignant pineal parenchymal germ cell tumor|pineal region germinoma|malignant germ cell tumor of pineal gland|malignant germ cell neoplasm of the pineal parenchyma|malignant germ cell tumor of the pineal gland|pineal germ cell tumor|malignant germ cell neoplasm of pineal parenchyma|pineal region germ cell tumor|malignant pineal area germ cell tumor|pineal germ cell neoplasm, malignant|pineal cell tumour|malignant pineal region germ cell neoplasm|malignant pineal gland germ cell tumor|pineal cell tumor|malignant germ cell neoplasm of pineal gland|malignant germ cell neoplasm of the pineal gland|malignant pineal parenchymal germ cell neoplasm|malignant germ cell tumor of the pineal parenchyma|malignant germ cell tumor of pineal parenchyma|malignant pineal gland germ cell neoplasm|malignant pineal region germ cell tumor gard_rare MONDO:0002074 Behcet syndrome arthropathy biolink:Disease mondo NCIT:C35225|SCTID:62918002|ICD9:711.20|ICD9:711.28|UMLS:C0157770|ICD9:711.26|ICD9:711.2|ICD9:711.23|DOID:1670 Arthropathy resulting from Behcet's syndrome. SNOMEDCT:62918002|NCIT:C35225|UMLS:C0157770|DOID:1670 http://purl.obolibrary.org/obo/MONDO_0002074 arthropathy in Behcet's syndrome involving multiple sites|Behcet syndrome arthropathy|arthropathy in Behcet's syndrome involving forearm|arthropathy in Behcet's syndrome involving lower leg|arthropathy in Behcet's syndrome involving upper arm|arthropathy in Behcet's syndrome|arthropathy in Behcet's syndrome involving pelvic region and thigh|arthropathy in Behcet's syndrome involving ankle and foot|Behcet's syndrome arthropathy|arthropathy in Behcet's syndrome involving hand|arthropathy in Behcet's syndrome involving shoulder region MONDO:0026045 prurigo nodularis biolink:Disease mondo GARD:0007480 Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities. http://purl.obolibrary.org/obo/MONDO_0026045 gard_rare MONDO:0002070 ventricular septal defect (disease) biolink:Disease mondo DOID:1657|OMIMPS:614429|HP:0001629|ICD9:745.4|SCTID:30288003|NCIT:C84506|MESH:D006345|GARD:0007853|ICD10:Q21.0|COHD:434462 The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. SNOMEDCT:30288003|MESH:D006345|DOID:1657|NCIT:C84506 http://purl.obolibrary.org/obo/MONDO_0002070 interventricular septal defect|ventricular septal defects|ventricular septal abnormality|heart septal defects, ventricular|ventricular septal defect|VSD MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome biolink:Disease mondo OMIM:615170|Orphanet:357332|ICD10:Q87.2|UMLS:C3554611 ORPHA:357332|UMLS:C3554611|http://identifiers.org/omim/615170 http://purl.obolibrary.org/obo/MONDO_0014069 WAHAB syndrome|Wahab syndrome|Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome|camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome ordo_malformation_syndrome MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 biolink:Disease mondo UMLS:C3554606|OMIM:615158|DOID:0080112 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene. DOID:0080112|UMLS:C3554606|http://identifiers.org/omim/615158 http://purl.obolibrary.org/obo/MONDO_0014064 mitochondrial complex III deficiency, nuclear type 3|mitochondrial complex III deficiency caused by mutation in UQCRB|mitochondrial Complex 3 deficiency, nuclear type 3|MC3DN3|mitochondrial complex III deficiency, nuclear type 3; MC3DN3|UQCRB mitochondrial complex III deficiency MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 biolink:Disease mondo OMIM:615157|DOID:0060351|UMLS:C3554605 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene. DOID:0060351|UMLS:C3554605|http://identifiers.org/omim/615157 http://purl.obolibrary.org/obo/MONDO_0014063 TTC19 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 2|mitochondrial Complex 3 deficiency, nuclear type 2|mitochondrial complex III deficiency, nuclear type 2; MC3DN2|MC3DN2|mitochondrial complex III deficiency caused by mutation in TTC19 MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy biolink:Disease mondo UMLS:C3554599|OMIM:615156|ICD10:G71.3|Orphanet:352470 ORPHA:352470|UMLS:C3554599|http://identifiers.org/omim/615156 http://purl.obolibrary.org/obo/MONDO_0014062 mtDNA deletion syndrome with progressive myopathy|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6|PEOA6|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6; PEOA6|mitochondrial DNA deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia, autosomal dominant 6|mtDNA deletion syndrome with limb-girdle weakness ordo_disease MONDO:0014061 Steel syndrome biolink:Disease mondo OMIM:615155|ICD10:Q87.5|UMLS:C3554594|Orphanet:438117 UMLS:C3554594|http://identifiers.org/omim/615155|ORPHA:438117 http://purl.obolibrary.org/obo/MONDO_0014061 steel syndrome|steel syndrome; STLS|bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|STLS|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature ordo_disease MONDO:0014068 cone-rod dystrophy 17 biolink:Disease mondo DOID:0111023|UMLS:C3554610|OMIM:615163 A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26. DOID:0111023|UMLS:C3554610|http://identifiers.org/omim/615163 http://purl.obolibrary.org/obo/MONDO_0014068 cone-rod dystrophy 17; CORD17|cone-rod dystrophy type 17|cone-rod dystrophy 17|CORD17 MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C3554609|Orphanet:357175|OMIM:615162 ORPHA:357175|UMLS:C3554609|http://identifiers.org/omim/615162 http://purl.obolibrary.org/obo/MONDO_0014067 mental retardation, autosomal recessive 35|intellectual disability, autosomal recessive 35|MRT35|mental retardation, autosomal recessive 35; MRT35|intellectual disability, autosomal recessive 35; MRT35 ordo_malformation_syndrome MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 biolink:Disease mondo DOID:0080114|UMLS:C3554608|OMIM:615160 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene. DOID:0080114|UMLS:C3554608|http://identifiers.org/omim/615160 http://purl.obolibrary.org/obo/MONDO_0014066 UQCRC2 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 5|mitochondrial complex III deficiency caused by mutation in UQCRC2|mitochondrial Complex 3 deficiency, nuclear type 5|mitochondrial complex III deficiency, nuclear type 5; MC3DN5|MC3DN5 MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 biolink:Disease mondo UMLS:C3554607|OMIM:615159|DOID:0080113 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene. DOID:0080113|UMLS:C3554607|http://identifiers.org/omim/615159 http://purl.obolibrary.org/obo/MONDO_0014065 mitochondrial complex III deficiency, nuclear type 4|mitochondrial complex III deficiency caused by mutation in UQCRQ|MC3DN4|mitochondrial Complex 3 deficiency, nuclear type 4|mitochondrial complex III deficiency, nuclear type 4; MC3DN4|UQCRQ mitochondrial complex III deficiency NCBITaxon:11653 Ovine/caprine lentivirus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11653 Ovine/caprine lentiviruses|Ovine/caprine lentivirus NCBITaxon:11652 Primate lentivirus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate immunodeficiency viruses NCBITaxon:11655 Feline lentivirus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11655 Feline lentiviruses MONDO:0002086 clear cell acanthoma biolink:Disease mondo DOID:172|SCTID:254670002|UMLS:C0333992|NCIT:C97041 An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm. UMLS:C0333992|SNOMEDCT:254670002|DOID:172|NCIT:C97041 http://purl.obolibrary.org/obo/MONDO_0002086 Degos acanthoma|pale (clear cell) acanthoma|clear cell acanthoma (morphologic abnormality) MONDO:0002087 peritoneum cancer biolink:Disease mondo ICD9:158.9|SCTID:363492001|ICD9:159.8|ICD10:C48.1|NCIT:C3538|ICD9:158.8|UMLS:C0153467|DOID:1725 A malignant neoplasm involving the peritoneum NCIT:C3538|SNOMEDCT:363492001|DOID:1725|UMLS:C0153467 http://purl.obolibrary.org/obo/MONDO_0002087 peritoneal cavity cancer|malignant neoplasm of peritoneum|cancer of the peritoneum|malignant peritoneal neoplasm|peritoneal neoplasm|cancer of peritoneum|peritoneum cancer|peritoneal cancer|malignant peritoneum neoplasm MONDO:0002088 partial retinal vein occlusion biolink:Disease mondo ICD10:H34.82|UMLS:C0271080|NCIT:C35341|SCTID:65593009|DOID:1726 UMLS:C0271080|NCIT:C35341|SNOMEDCT:65593009|DOID:1726 http://purl.obolibrary.org/obo/MONDO_0002088 partial retinal vein occlusion|partial occlusion of retinal vein MONDO:0002089 retinal vascular occlusion biolink:Disease mondo UMLS:C0035326|ICD10:H34.9|ICD10:H34|NCIT:C34980|SCTID:73757007|ICD9:362.30|DOID:1729|ICD9:362.3|COHD:440392 An occlusion of the retinal vasculature. NCIT:C34980|UMLS:C0035326|DOID:1729|SNOMEDCT:73757007 http://purl.obolibrary.org/obo/MONDO_0002089 retinal vascular occlusion|retinal vascular occlusion, unspecified|retinal vasc. occlusion MONDO:0002082 endocrine gland neoplasm biolink:Disease mondo ICD9:239.7|SCTID:387922007|NCIT:C3010|EFO:0003769 A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. SNOMEDCT:387922007|NCIT:C3010 http://purl.obolibrary.org/obo/MONDO_0002082 endocrine system neoplasm|endocrine gland neoplasm (disease)|neoplasm of endocrine gland|endocrine gland tumor|endocrine system tumor|malignant endocrine tumor|tumor of endocrine gland|endocrine tumor|endocrine neoplasm MONDO:0002083 Richter syndrome biolink:Disease mondo ICD10:C91.1|NCIT:C35424|UMLS:C0349631|DOID:1703|GARD:0007578|SCTID:277550009 Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm. NCIT:C35424|UMLS:C0349631|DOID:1703|SNOMEDCT:277550009 http://purl.obolibrary.org/obo/MONDO_0002083 Richter's syndrome|Richter's transformation|Richter transformation|Richter syndrome MONDO:0002084 obsolete neuroectodermal tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002084 MONDO:0002085 benign shuddering attacks biolink:Disease mondo SCTID:446995005|UMLS:C0375200|ICD9:333.93|ICD10:G25.83|DOID:1713 SNOMEDCT:446995005|DOID:1713|UMLS:C0375200 http://purl.obolibrary.org/obo/MONDO_0002085 MONDO:0014059 microphthalmia, isolated, with coloboma 9 biolink:Disease mondo OMIM:615145|UMLS:C3554592 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene. http://identifiers.org/omim/615145|UMLS:C3554592 http://purl.obolibrary.org/obo/MONDO_0014059 microphthalmia, isolated, with coloboma caused by mutation in TENM3|microphthalmia, isolated, with coloboma type 9|microphthalmia, isolated, with coloboma 9|MCOPCB9|microphthalmia, isolated, with coloboma 9; MCOPCB9|TENM3 microphthalmia, isolated, with coloboma MONDO:0002080 obsolete congenital ichthyosiform erythroderma (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002080 MONDO:0002081 musculoskeletal system disease biolink:Disease mondo UMLS:C0026857|SCTID:928000|MESH:D009140|NCIT:C107377|ICD9:729.99|DOID:17 A disease involving the musculoskeletal system. MESH:D009140|UMLS:C0026857|NCIT:C107377|DOID:17|SNOMEDCT:928000 http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal disorder|musculoskeletal system disease or disorder|musculoskeletal disease|disorder of musculoskeletal system|disease of musculoskeletal system|disease or disorder of musculoskeletal system|musculoskeletal system disorder|disorder of musculoskeletal system|musculoskeletal system disease MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome biolink:Disease mondo OMIM:615139|Orphanet:352712|ICD10:Q87.1|UMLS:C3554576 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. http://identifiers.org/omim/615139|ORPHA:352712|UMLS:C3554576 http://purl.obolibrary.org/obo/MONDO_0014058 facial dysmorphism, immunodeficiency, livedo, and short stature; fils|fils syndrome|fils|facial dysmorphism, immunodeficiency, livedo, and short stature ordo_disease GO:0035556 intracellular signal transduction biolink:OntologyClass mondo The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. http://purl.obolibrary.org/obo/GO_0035556 protein kinase cascade|intracellular signaling pathway|signal transduction via intracellular signaling cascade|intracellular signaling chain|intracellular protein kinase cascade|intracellular signaling cascade|intracellular signal transduction pathway|signal transmission via intracellular cascade MONDO:0014053 stomatin-like protein-2, hyperphosphorylation of biolink:Disease mondo OMIM:615121 http://identifiers.org/omim/615121 http://purl.obolibrary.org/obo/MONDO_0014053 stomatin-like protein-2, hyperphosphorylation of|hyperphosphorylated Paratarg-7 MONDO:0014052 congenital myasthenic syndrome 8 biolink:Disease mondo UMLS:C3808739|DOID:0110657|OMIM:615120 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene. DOID:0110657|UMLS:C3808739|http://identifiers.org/omim/615120 http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome type 8|myasthenic syndrome, congenital, with Pre- and postsynaptic defects|congenital myasthenic syndrome 8 with pre- and postsynaptic defects|myasthenic syndrome, congenital, 8; CMS8|myasthenic syndrome, congenital, type 8|congenital myasthenic syndrome due to agrin deficiency|CMS8|AGRN congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in AGRN|myasthenic syndrome, congenital, 8|myasthenic syndrome, congenital, due to agrin deficiency MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 biolink:Disease mondo OMIM:615119|UMLS:C3554534 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene. UMLS:C3554534|http://identifiers.org/omim/615119 http://purl.obolibrary.org/obo/MONDO_0014051 COX15 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2|fatal infantile encephalocardiomyopathy caused by mutation in COX15|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2|CEMCOX2|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; CEMCOX2 MONDO:0014050 isolated microphthalmia 8 biolink:Disease mondo UMLS:C3554524|OMIM:615113|DOID:0060841|ICD10:Q11.0 Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene. UMLS:C3554524|http://identifiers.org/omim/615113|DOID:0060841 http://purl.obolibrary.org/obo/MONDO_0014050 microphthalmia, isolated 8|MCOP8|ALDH1A3 isolated microphthalmia|microphthalmia, isolated type 8|isolated microphthalmia caused by mutation in ALDH1A3|microphthalmia, isolated 8; MCOP8|isolated microphthalmia type 8 MONDO:0014057 maple syrup urine disease, mild variant biolink:Disease mondo UMLS:C3554575|OMIM:615135 http://identifiers.org/omim/615135|UMLS:C3554575 http://purl.obolibrary.org/obo/MONDO_0014057 maple syrup urine disease, mild variant; MSUDMV|maple syrup urine disease, mild variant|MSUDMV MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 biolink:Disease mondo OMIM:615134 http://identifiers.org/omim/615134 http://purl.obolibrary.org/obo/MONDO_0014056 melanoma, cutaneous malignant, susceptibility to, type 9|CMM9|melanoma, cutaneous malignant, susceptibility to, 9|susceptibility to cutaneous malignant melanoma 9|melanoma, cutaneous malignant, susceptibility to, 9; CMM9 predisposition MONDO:0014055 FAME4 biolink:Disease mondo UMLS:C3554560|OMIM:615127 UMLS:C3554560|http://identifiers.org/omim/615127 http://purl.obolibrary.org/obo/MONDO_0014055 epilepsy, familial ADULT myoclonic, 4; FAME4|epilepsy, familial ADULT myoclonic, 4|cortical myoclonic tremor with epilepsy, familial, 4|FAME4 MONDO:0014054 lymphoproliferative syndrome 2 biolink:Disease mondo ICD10:D47.9|UMLS:C3554540|DOID:0060708|OMIM:615122 Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene. UMLS:C3554540|DOID:0060708|http://identifiers.org/omim/615122 http://purl.obolibrary.org/obo/MONDO_0014054 lymphoproliferative syndrome type 2|CD27 deficiency|lymphoproliferative syndrome caused by mutation in CD27|CD27 lymphoproliferative syndrome|LPFS2|lymphoproliferative syndrome 2; LPFS2|lymphoproliferative syndrome 2 MONDO:0004636 lip carcinoma in situ biolink:Disease mondo SCTID:92643000|DOID:8661|NCIT:C4588|UMLS:C0347082|ICD9:230.0|ICD10:D00.0|UMLS:C4316815 A in situ carcinoma that involves the lip. NCIT:C4588|DOID:8661|SNOMEDCT:92643000|UMLS:C4316815|UMLS:C0347082 http://purl.obolibrary.org/obo/MONDO_0004636 lip in situ carcinoma|stage 0 Lip cancer|stage 0 carcinoma of the Lip|stage 0 carcinoma of Lip|carcinoma in situ of lip|carcinoma in situ of the Lip|stage 0 cancer of the Lip|stage 0 cancer of Lip|stage 0 Lip cancer aJCC v7|stage 0 Lip cancer aJCC v6|stage 0 Lip cancer aJCC v6 and v7|stage 0 lip carcinoma UBERON:0013491 cervical fascia biolink:AnatomicalEntity mondo Any fascia tissue that is part of the neck region. http://purl.obolibrary.org/obo/UBERON_0013491 fascia of neck MONDO:0004635 postcricoid region cancer biolink:Disease mondo DOID:8660|ICD9:148.0|UMLS:C0496769|ICD10:C13.0|SCTID:363400004|NCIT:C9323 A primary or metastatic malignant neoplasm that affects the postcricoid region. DOID:8660|UMLS:C0496769|SNOMEDCT:363400004|NCIT:C9323 http://purl.obolibrary.org/obo/MONDO_0004635 malignant postcricoid neoplasm|malignant postcricoid tumor|malignant tumor of postcricoid area|malignant tumor of the postcricoid area|malignant tumor of pharyngoesophageal junction|malignant neoplasm of postcricoid area|malignant neoplasm of the postcricoid area MONDO:0004638 lymphosarcoma biolink:Disease mondo DOID:8675|SCTID:188498009|ICD9:200.7|ICD9:200.10|GARD:0006946|NCIT:C26919|COHD:200662|ICD10:C85.9|ICD9:200.1|ICD9:200.0|ICD10:C85.0 An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes. DOID:8675|NCIT:C26919|SNOMEDCT:188498009 http://purl.obolibrary.org/obo/MONDO_0004638 malignant lymphoma (category)|diffuse lymphoma|malignant lymphoma|lymphosarcoma gard_rare UBERON:0013493 abdominal fascia biolink:AnatomicalEntity mondo A fascia that is part of a abdomen. http://purl.obolibrary.org/obo/UBERON_0013493 fascia of abdomen|endo-abdominopelvic fascia MONDO:0004637 aryepiglottic fold cancer biolink:Disease mondo DOID:8663|ICD9:148.2|SCTID:187708004|ICD10:C13.1 A malignant neoplasm involving the aryepiglottic fold. SNOMEDCT:187708004|DOID:8663 http://purl.obolibrary.org/obo/MONDO_0004637 malignant tumor aryepiglottic fold - hypopharyngeal aspect|cancer of aryepiglottic fold|aryepiglottic fold cancer|malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold|malignant neoplasm of aryepiglottic fold|malignant aryepiglottic fold neoplasm MONDO:0004632 obsolete Hodgkin's granuloma biolink:Disease mondo ICD9:201.9|COHD:4041797|ICD9:201.7|ICD10:C81.4|ICD9:201.6|ICDO:9661/3|ICD10:C81.3|SCTID:118602004|ICD10:C81.2|ICD9:201.4|ICD10:C81.0|ICD9:201.2|ICD10:C81|ICD9:201.1|ICD9:201.0|ICD9:201|DOID:8651|ICD10:C81.9|NCIT:C6914 An obsolete term referring to Hodgkin lymphoma. DOID:8651|SNOMEDCT:118602004|NCIT:C6914 http://purl.obolibrary.org/obo/MONDO_0004632 Hodgkin's granuloma of unspecified site|Hodgkin's granuloma|Hodgkin's granuloma, unspecified site, extranodal and solid organ sites|Hodgkin granuloma MONDO:0004631 tongue cancer biolink:Disease mondo ICD9:141.6|SCTID:363360003|ICD9:141.5|ICD10:C02.4|NCIT:C9345|ICD9:141.3|ICD10:C02.2|COHD:440655|ICD9:141.2|ICD10:C02.1|DOID:8649|ICD9:141.1|ICD10:C02.0|MESH:D014062|ICD9:141.0|GARD:0007779|ICD9:141|ICD10:C01|ICD10:C02.9|ICD9:141.9|ICD9:141.4 A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas. DOID:8649|MESH:D014062|NCIT:C9345|SNOMEDCT:363360003 http://purl.obolibrary.org/obo/MONDO_0004631 malignant tumor of posterior tongue|malignant tumor of lingual tonsil (disorder)|cancer of tongue|tongue neoplasm, malignant|malignant tumor of base of tongue|malignant neoplasm of tongue|malignant tongue tumor|malignant neoplasm of dorsum of tongue|malignant tongue neoplasm|malignant neoplasm of dorsal surface of tongue|malignant neoplasm of anterior two-thirds of tongue|malignant neoplasm of tip and/or lateral border of tongue|malignant neoplasm of tip and lateral border of tongue|malignant neoplasm of ventral surface of tongue|tongue cancer|malignant neoplasm of anterior two-thirds of tongue, part unspecified|malignant neoplasm of base of tongue|malignant neoplasm of lingual tonsil|tongue neoplasm malignant|malignant neoplasm of mobile part of tongue|malignant neoplasm of fixed part of tongue|malignant neoplasm of fixed part of tongue NOS|malignant neoplasm of anterior 2/3 of tongue|malignant neoplasm of dorsal tongue|malignant neoplasm of tongue, tip and lateral border|tongue carcinoma|malignant neoplasm of tongue NOS|malignant neoplasm of dorsal tongue NOS|malignant tumor of anterior two-thirds of tongue|tongue neoplasm malignant stage unspecified|malignant neoplasm of ventral tongue surface|malignant neoplasm of border of tongue|malignant tumor of lingual tonsil|malignant neoplasm of mobile part of tongue NOS|malignant tumor of tongue|malignant neoplasm of junctional zone of tongue|malignant neoplasm of tongue, NOS|malignant tumor of the tongue|malignant neoplasm of other sites of tongue|malignant tumor of mobile part of tongue|malignant neoplasm of the tongue gard_rare MONDO:0004634 vein disease biolink:Disease mondo SCTID:90507008|ICD9:453|UMLS:C0235522|ICD10:I82|DOID:866 A disease involving the vein. SNOMEDCT:90507008|UMLS:C0235522|DOID:866 http://purl.obolibrary.org/obo/MONDO_0004634 disease of vein|disorder of vein|disease or disorder of vein|vein disease|vein disease or disorder|disorder of vein MONDO:0004633 Hodgkin's lymphoma, mixed cellularity biolink:Disease mondo ICDO:9652/3|ICD9:201.6|ICD10:C81.2|SCTID:118609008|COHD:4038843|DOID:8654|NCIT:C3517|ONCOTREE:MCCHL A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008) DOID:8654|NCIT:C3517|SNOMEDCT:118609008 http://purl.obolibrary.org/obo/MONDO_0004633 Hodgkin lymphoma, mixed cellularity|mixed cellularity Hodgkin lymphoma|Hodgkin's disease, mixed cellularity of unspecified site|Mixed cellularity Classic Hodgkin lymphoma|MCHL|mixed cellularity Hodgkin's disease|Hodgkin's disease mixed cellularity|MCCHL|mixed cellularity Hodgkin's lymphoma|mixed cellularity classical Hodgkin lymphoma|Hodgkin's disease, mixed cellularity|Hodgkin's lymphoma mixed cellularity MONDO:0004630 substance-induced psychosis biolink:Disease mondo DOID:8646|ICD9:293.89 DOID:8646 http://purl.obolibrary.org/obo/MONDO_0004630 MONDO:0016618 rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies biolink:Disease mondo Orphanet:247861|ICD10:M08.3 ORPHA:247861 http://purl.obolibrary.org/obo/MONDO_0016618 juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies|rheumatoid factor-negative JIA without anti-nuclear antibodies|polyarthritis without rheumatoid factor without anti-nuclear antibodies ordo_etiological_subtype NCBITaxon:155616 Tremellomycetes organism taxon mondo GC_ID:1|PMID:26955199 http://purl.obolibrary.org/obo/NCBITaxon_155616 Tremellomycetidae|Heterobasidiomycetes MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia biolink:Disease mondo UMLS:C0406702|SCTID:27025001|ICD10:Q82.4|MESH:D053360|NCIT:C84580|Orphanet:248|GARD:0002057 A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations. NCIT:C84580|UMLS:C0406702|ORPHA:248|SNOMEDCT:27025001|MESH:D053360 http://purl.obolibrary.org/obo/MONDO_0016619 AR-HED|autosomal recessive anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia autosomal recessive|hypohidrotic ectodermal dysplasia, autosomal recessive|anhidrotic ectodermal dysplasia, autosomal recessive gard_rare|ordo_etiological_subtype UBERON:0013498 vestibulo-cochlear VIII ganglion complex biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013498 vestibulocochlear VIII ganglion complex|vestibulocochlear ganglion complex|vestibular VIII ganglion complex MONDO:0016625 acquired deficiency anemia biolink:Disease mondo UMLS:CN226976|Orphanet:248302 An instance of deficiency anemia that is acquired during the lifetime of the individual. UMLS:CN226976|ORPHA:248302 http://purl.obolibrary.org/obo/MONDO_0016625 rare acquired deficiency anemia ordo_group_of_disorders MONDO:0016626 hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency biolink:Disease mondo Orphanet:248305|ICD10:D55.2 ORPHA:248305 http://purl.obolibrary.org/obo/MONDO_0016626 ordo_disease MONDO:0016627 obsolete rare hemorrhagic disorder biolink:Disease mondo Orphanet:248308|UMLS:CN226978 UMLS:CN226978|ORPHA:248308 http://purl.obolibrary.org/obo/MONDO_0016627 rare coagulopathy|rare bleeding disorder obsoletion_candidate|ordo_group_of_disorders MONDO:0016628 hemorrhagic disorder due to a coagulation factors defect biolink:Disease mondo UMLS:CN226979|Orphanet:248315 UMLS:CN226979|ORPHA:248315 http://purl.obolibrary.org/obo/MONDO_0016628 rare bleeding disorder due to a coagulation factors defect|rare coagulopathy due to a coagulation factor defect ordo_group_of_disorders MONDO:0016621 juvenile Huntington disease biolink:Disease mondo GARD:0010510|SCTID:230299004|ICD10:G10|UMLS:C0751208|NCIT:C147072|Orphanet:248111 Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age. NCIT:C147072|SNOMEDCT:230299004|UMLS:C0751208|ORPHA:248111 http://purl.obolibrary.org/obo/MONDO_0016621 juvenile Huntington chorea|juvenile onset HD|JHD|Huntington disease, juvenile onset gard_rare|ordo_disease MONDO:0016622 Melhem-Fahl syndrome biolink:Disease mondo UMLS:C2931453|MESH:C537238|SCTID:732263008|ICD10:Q76.4|GARD:0003462|Orphanet:2482 Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report. ORPHA:2482|MESH:C537238|SNOMEDCT:732263008|UMLS:C2931453 http://purl.obolibrary.org/obo/MONDO_0016622 Melhem Fahl syndrome|fifteen dorsal vertebrae and rib pairs gard_rare|ordo_malformation_syndrome|n_of_one MONDO:0016623 obsolete rare deficiency anemia biolink:Disease mondo Orphanet:248293 Any of the forms of deficiency anemia that have a rare incidence. ORPHA:248293 http://purl.obolibrary.org/obo/MONDO_0016623 rare deficiency anemia obsoletion_candidate|ordo_group_of_disorders MONDO:0016624 inherited deficiency anemia biolink:Disease mondo Orphanet:248296 ORPHA:248296 http://purl.obolibrary.org/obo/MONDO_0016624 constitutional rare deficiency anemia ordo_group_of_disorders MONDO:0016620 primary hypertrophic osteoarthropathy biolink:Disease mondo UMLS:C0029411|ICD10:M89.4|Orphanet:248095|DOID:14283|MESH:D010004|DC:0000680|OMIMPS:259100|NCIT:C85023 Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. DOID:14283|ORPHA:248095|MESH:D010004|NCIT:C85023|UMLS:C0029411 http://purl.obolibrary.org/obo/MONDO_0016620 hypertrophic osteoarthropathy, primary|hypertropic osteoarthropathy, primary|pachydermoperiostosis of nail|pachydermoperiostosis syndrome|idiopathic hypertrophic osteoarthropathy|PHO|pachydermoperiostosis of nail [ambiguous] ordo_group_of_disorders HGNC:8011 CNTNAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8011 MONDO:0004629 subacute delirium biolink:Disease mondo ICD9:293.1|SCTID:191507002|COHD:379779|DOID:8645 DOID:8645|SNOMEDCT:191507002 http://purl.obolibrary.org/obo/MONDO_0004629 MONDO:0004628 gastroduodenitis biolink:Disease mondo ICD9:535.4|UMLS:C0267166|SCTID:196731005|DOID:8644|ICD9:535.50 DOID:8644|SNOMEDCT:196731005|UMLS:C0267166 http://purl.obolibrary.org/obo/MONDO_0004628 peptic ulcer gastroduodenitis|gastritis and duodenitis|gastroduodenitis MONDO:0004647 in situ carcinoma biolink:Disease mondo DOID:8719|UMLS:C0007099|SCTID:109355002|ICD9:234.9|COHD:433435|ICD10:D09.9|NCIT:C2917|MESH:D002278|ICD9:234.8|ICD9:230-234.99|ICDO:8010/2 A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. DOID:8719|MESH:D002278|SNOMEDCT:109355002|NCIT:C2917|UMLS:C0007099 http://purl.obolibrary.org/obo/MONDO_0004647 stage 0 disease|intraepithelial carcinoma|epithelial tumor, in situ, malignant|CIS|non-invasive carcinoma|carcinoma in situ|carcinoma, in situ, malignant MONDO:0004646 decubitus ulcer biolink:Disease mondo SCTID:399912005|ICD10:L89|DOID:8717|ICD9:707.0|UMLS:C0011127|ICD10:L89.9|MESH:D003668|COHD:135333|ICD9:707.00|EFO:0007067 Death of tissue due to external pressure. DOID:8717|MESH:D003668|SNOMEDCT:399912005|UMLS:C0011127|NCIT:C50706 http://purl.obolibrary.org/obo/MONDO_0004646 decubitus ulcer, elbow|decubitus (pressure) ulcer|decubitus ulcer any site|decubitus ulcer, other site|bedsore|decubitus ulcer, lower back|decubitus ulcer, upper back|pressure sores|pressure ulcer|decubitus ulcer MONDO:0004649 anaerobic pneumonia biolink:Disease mondo SCTID:409664000|UMLS:C1443976|ICD9:482.89|DOID:873|ICD9:482.81 A pneumonia caused by anaerobic bacteria. UMLS:C1443976|DOID:873|SNOMEDCT:409664000 http://purl.obolibrary.org/obo/MONDO_0004649 pneumonia due to anaerobic bacteria|pneumonia due to anaerobes|pneumonia caused by anaerobic bacteria MONDO:0004648 vascular dementia biolink:Disease mondo EFO:0004718|ICD10:F01|ICD9:290.4|DOID:8725|MESH:D015140|NCIT:C34525|SCTID:429998004|UMLS:C0011269|ICD10:F01.5 A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions. MESH:D015140|DOID:8725|NCIT:C34525|UMLS:C0011269|SNOMEDCT:429998004 http://purl.obolibrary.org/obo/MONDO_0004648 vascular dementia|multifocal dementia|multi infarct dementia CHEBI:24651 hydroxides biolink:ChemicalSubstance mondo Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)). http://purl.obolibrary.org/obo/CHEBI_24651 MONDO:0004643 myeloid leukemia biolink:Disease mondo DOID:8692|COHD:140666|ICD9:205.80|ICD9:205|ICDO:9860/3|ICD10:C92|ICD10:C92.90|ICD9:205.9|ICD10:C92.9|SCTID:188732008|GARD:0008226|NCIT:C3172|MESH:D007951|ICD9:205.90|UMLS:C0023470 A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. UMLS:C0023470|MESH:D007951|SNOMEDCT:188732008|NCIT:C3172|DOID:8692 http://purl.obolibrary.org/obo/MONDO_0004643 non-lymphoblastic leukemia|myelocytic leukemia|non-lymphocytic leukemia|myeloid granulocytic leukemia|leukemia, granulocytic, malignant|leukemia granulocytic|myeloid leukemia|leukemia myelogenous|myelogenous leukemia|leukemia myeloid gard_rare MONDO:0004642 tonsillar pillar cancer biolink:Disease mondo UMLS:C0153385|SCTID:187675005|ICD9:146.2|DOID:8688|ICD10:C09.1 A cancer that involves the tonsillar pillar. SNOMEDCT:187675005|UMLS:C0153385|DOID:8688 http://purl.obolibrary.org/obo/MONDO_0004642 malignant neoplasm of tonsillar pillar|malignant neoplasm of tonsillar pillars, posterior|malignant tumour of tonsillar pillar|malignant tumor of tonsillar pillar MONDO:0004645 cheek mucosa cancer biolink:Disease mondo UMLS:C0153373|DOID:8702|NCIT:C9320|SCTID:363386008|ICD9:145.0|ICD10:C06.0 A malignant neoplasm involving the buccal mucosa. DOID:8702|NCIT:C9320|SNOMEDCT:363386008|UMLS:C0153373 http://purl.obolibrary.org/obo/MONDO_0004645 cancer of buccal mucosa|malignant buccal mucosa tumor|malignant neoplasm of the buccal mucosa|buccal mucosa cancer|malignant tumor of the buccal mucosa|malignant tumor of buccal mucosa|malignant neoplasm of buccal mucosa|malignant neoplasm of cheek, inner aspect|malignant buccal mucosa neoplasm MONDO:0004644 subacute monocytic leukemia biolink:Disease mondo ICD9:206.2|UMLS:C0152275|ICD9:206.20|SCTID:188746008|DOID:8696|COHD:313430 DOID:8696|SNOMEDCT:188746008|UMLS:C0152275 http://purl.obolibrary.org/obo/MONDO_0004644 MONDO:0004641 skin carcinoma in situ biolink:Disease mondo ICD10:D04.9|NCIT:C3640|ICD10:D04|ICD10:D04.7|ICD9:232.7|ICD10:D04.6|ICD9:232.6|ICD9:232.5|ICD10:D04.4|ICD10:D04.3|ICD9:232.4|ICD10:D04.2|COHD:138996|ICD9:232.3|DOID:8687|ICD9:232.2|UMLS:C0154073|ICD10:D04.0|ICD9:232.8|SCTID:92749008|ICD9:232.0|ICD9:232|ICD9:232.9 A in situ carcinoma that involves the zone of skin. NCIT:C3640|UMLS:C0154073|SNOMEDCT:92749008|DOID:8687 http://purl.obolibrary.org/obo/MONDO_0004641 zone of skin carcinoma in situ|skin carcinoma stage 0|stage 0 skin cancer aJCC v7|stage 0 skin cancer aJCC v6|carcinoma in situ of the skin|stage 0 zone of skin carcinoma|carcinoma of skin stage 0|cutaneous carcinoma in situ|carcinoma of the skin stage 0|stage 0 nonmelanoma skin carcinoma in situ|skin cancer stage 0|stage 0 skin cancer|nonmelanoma carcinoma in situ|stage 0 skin carcinoma|carcinoma in situ of skin|skin carcinoma in situ|zone of skin in situ carcinoma|carcinoma in situ of zone of skin MONDO:0004640 alcoholic gastritis biolink:Disease mondo DOID:8680|COHD:195300|NCIT:C26977|ICD9:535.30|UMLS:C0156076|ICD10:K29.2|ICD9:535.3|SCTID:2043009 Inflammation of the stomach resulting from alcohol ingestion. SNOMEDCT:2043009|UMLS:C0156076|NCIT:C26977|DOID:8680 http://purl.obolibrary.org/obo/MONDO_0004640 alcoholic gastritis, without mention of hemorrhage|alcoholic gastritis, with hemorrhage|alcoholic gastritis MONDO:0016607 odontohypophosphatasia biolink:Disease mondo Orphanet:247685|ICD10:E83.3|SCTID:708672004|NCIT:C131309|UMLS:C1840322 Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. UMLS:C1840322|ORPHA:247685|SNOMEDCT:708672004|NCIT:C131309 http://purl.obolibrary.org/obo/MONDO_0016607 ordo_clinical_subtype MONDO:0016608 megalencephaly (disease) biolink:Disease mondo ICD10:Q04.5|ICD9:742.4|HP:0001355|MESH:D058627|SCTID:9740002|MedDRA:10050183|Orphanet:2477 A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome). UMLS:C0221355|UMLS:C2720434|SNOMEDCT:9740002|MESH:D058627|ORPHA:2477|MEDDRA:10050183 http://purl.obolibrary.org/obo/MONDO_0016608 macroencephaly|megalencephaly ordo_malformation_syndrome MONDO:0016609 inflammatory myopathy with abundant macrophages biolink:Disease mondo Orphanet:247718|SCTID:766706007|ICD10:G72.4|UMLS:CN201809 Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI. ORPHA:247718|SNOMEDCT:766706007|UMLS:CN201809 http://purl.obolibrary.org/obo/MONDO_0016609 imam ordo_disease MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency biolink:Disease mondo Orphanet:247815|ICD10:G11.8|UMLS:CN201819 ORPHA:247815|UMLS:CN201819 http://purl.obolibrary.org/obo/MONDO_0016614 mild peroxismal disorder due to PEX10 deficiency ordo_disease HGNC:8028 NTHL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8028 MONDO:0016615 oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies biolink:Disease mondo ICD10:M08.4|Orphanet:247839|UMLS:CN201823 ORPHA:247839|UMLS:CN201823 http://purl.obolibrary.org/obo/MONDO_0016615 pauciarticular chronic arthritis with anti-nuclear antibodies|oligoarticular JIA with anti-nuclear antibodies ordo_etiological_subtype MONDO:0016616 oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies biolink:Disease mondo UMLS:CN201824|Orphanet:247846|ICD10:M08.4 ORPHA:247846|UMLS:CN201824 http://purl.obolibrary.org/obo/MONDO_0016616 pauciarticular chronic arthritis without anti-nuclear antibodies|oligoarticular JIA without anti-nuclear antibodies ordo_etiological_subtype MONDO:0016617 rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies biolink:Disease mondo Orphanet:247854|ICD10:M08.3 ORPHA:247854 http://purl.obolibrary.org/obo/MONDO_0016617 rheumatoid factor-negative JIA with anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies|polyarthritis without rheumatoid factor with anti-nuclear antibodies ordo_etiological_subtype MONDO:0016610 idiopathic eosinophilic myositis biolink:Disease mondo Orphanet:247724|ICD10:M60.8 ORPHA:247724 http://purl.obolibrary.org/obo/MONDO_0016610 idiopathic eosinophilia-associated myopathy ordo_disease MONDO:0016611 lipoblastoma biolink:Disease mondo UMLS:C1260965|GARD:0012015|NCIT:C27483|SCTID:400102008|MESH:D062689|Orphanet:247762 A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient. MESH:D062689|UMLS:C1260965|SNOMEDCT:400102008|NCIT:C27483|ORPHA:247762 http://purl.obolibrary.org/obo/MONDO_0016611 embryonic lipoma|infantile lipoma|fetal lipoma ordo_disease|gard_rare MONDO:0016612 X-linked cerebellar ataxia biolink:Disease mondo DOID:0050953|Orphanet:247765|ICD10:G11.1 X-linked form of cerebellar ataxia. ORPHA:247765|DOID:0050953 http://purl.obolibrary.org/obo/MONDO_0016612 cerebellar ataxia, X-linked|hereditary ataxia, X-linked|X-linked hereditary ataxia ordo_group_of_disorders MONDO:0016613 APC-related attenuated familial adenomatous polyposis biolink:Disease mondo ICD10:D12.6|Orphanet:247806|UMLS:CN201818 ORPHA:247806|UMLS:CN201818 http://purl.obolibrary.org/obo/MONDO_0016613 APC-related attenuated familial polyposis coli|APC-related AFAP|APC-related attenuated FAP ordo_clinical_subtype NCBITaxon:574145 Demodex brevis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_574145 HGNC:8021 NT5E biolink:OntologyClass mondo http://identifiers.org/hgnc/8021 HGNC:8022 NT5C2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8022 MONDO:0004639 perinatal necrotizing enterocolitis biolink:Disease mondo GARD:0009767|SCTID:397729009|DOID:8677 A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. SNOMEDCT:397729009|DOID:8677 http://purl.obolibrary.org/obo/MONDO_0004639 necrotizing enterocolitis in fetus or newborn|enterocolitis, necrotizing|enterocolitis necrotizing|necrotizing enterocolitis|pseudomembranous enterocolitis in newborn|perinatal necrotising enterocolitis HGNC:8024 NTF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/8024 MONDO:0004614 chronic monocytic leukemia biolink:Disease mondo ICD9:206.11|SCTID:188745007|COHD:136056|ICD9:206.1|UMLS:C0023466|ICD10:C93.1|DOID:8593|ICD9:206.10|NCIT:C34774 Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites. SNOMEDCT:188745007|DOID:8593|NCIT:C34774|UMLS:C0023466 http://purl.obolibrary.org/obo/MONDO_0004614 monocytic leukemia, chronic CHEBI:24621 hormone biolink:ChemicalSubstance mondo Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. http://purl.obolibrary.org/obo/CHEBI_24621 hormones|endocrine MONDO:0004613 acute intestinal ischemia biolink:Disease mondo UMLS:C0001363|DOID:8590|SCTID:91489000|NCIT:C34356|ICD9:557.0|COHD:201894 Ischemia of the intestine that is rapid in onset. SNOMEDCT:91489000|DOID:8590|UMLS:C0001363|NCIT:C34356 http://purl.obolibrary.org/obo/MONDO_0004613 acute gastrointestinal tract vascular insuffic.|acute intestinal vascular insufficiency|acute intestinal ischemia|acute git vascular insuffic. MONDO:0004616 herpetic whitlow biolink:Disease mondo COHD:76034|ICD9:054.6|UMLS:C0153042|SCTID:43891009|DOID:8607|NCIT:C128402 A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2. UMLS:C0153042|DOID:8607|NCIT:C128402|SNOMEDCT:43891009 http://purl.obolibrary.org/obo/MONDO_0004616 Simplexvirus caused paronychia (disease)|Simplexvirus paronychia (disease)|herpetic felon UBERON:0013472 upper esophagus biolink:AnatomicalEntity mondo The upper one third of esophagus in which the muscle layer is composed of muscle cells of the striated type. http://purl.obolibrary.org/obo/UBERON_0013472 proximal part of esophagus|upper third of esophagus MONDO:0004615 upper gum cancer biolink:Disease mondo ICD9:143.0|UMLS:C0153365|ICD10:C03.0|SCTID:363383000|DOID:8601 A cancer involving a gingiva of upper jaw. SNOMEDCT:363383000|UMLS:C0153365|DOID:8601 http://purl.obolibrary.org/obo/MONDO_0004615 malignant neoplasm of gingiva of upper jaw|malignant tumor of upper gingiva|malignant tumour of upper gum|gingiva of upper jaw cancer|cancer of gingiva of upper jaw|malignant gingiva of upper jaw neoplasm MONDO:0004610 obsolete multiple carboxylase deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004610 MONDO:0004612 malignant histiocytosis biolink:Disease mondo DOID:2570|ICD10:C96.A|UMLS:C0019623|NCIT:C7202|ICD9:202.3|COHD:4041104|DOID:8580|EFO:1001499|MESH:D015620|SCTID:118612006|ICDO:9750/3|ICD10:C96.1 Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells. DOID:2570|SNOMEDCT:118612006|DOID:8580|MESH:D015620|NCIT:C7202|UMLS:C0019623 http://purl.obolibrary.org/obo/MONDO_0004612 Stewart's granuloma|malignant histiocytic disorders|malignant midline reticulosis|histiocytic disorder, malignant|malignant reticulosis|disorders, malignant histiocytic|malignant histiocytic disease|histiocytic medullary reticulosis MONDO:0004611 soft palate cancer biolink:Disease mondo UMLS:C0153376|SCTID:363388009|ICD10:C05.1|ICD9:145.3|NCIT:C3529|DOID:8578 A primary or metastatic malignant neoplasm that affects the soft palate. UMLS:C0153376|DOID:8578|NCIT:C3529|SNOMEDCT:363388009 http://purl.obolibrary.org/obo/MONDO_0004611 soft palate cancer|malignant tumor of soft palate|malignant tumor of the soft palate|malignant neoplasm of soft palate|malignant soft palate neoplasm|malignant neoplasm of the soft palate|cancer of soft palate|malignant soft palate tumor UBERON:0013478 cecal tonsil biolink:AnatomicalEntity mondo A thickened round patch of lymphoid tissue located at the ileocecal junction adjacent to the sacculus rotundus. http://purl.obolibrary.org/obo/UBERON_0013478 cecal GALT|caecal tonsil UBERON:0013479 lung endothelium biolink:AnatomicalEntity mondo A blood vessel endothelium that is part of a lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0013479 respiratory endothelium MONDO:0016603 citrullinemia type II biolink:Disease mondo Orphanet:247585|NCIT:C150603|SCTID:716863007|ICD10:E72.2 Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. ORPHA:247585|NCIT:C150603|SNOMEDCT:716863007 http://purl.obolibrary.org/obo/MONDO_0016603 citrullinemia type II|citrullinemia type 2|adult-onset type 2 citrullinemia|adult-onset citrin deficiency|CTLN2|adult-onset type II citrullinemia ordo_disease UBERON:0001491 wrist joint biolink:AnatomicalEntity mondo A joint connecting the forelimb zeugopod skeleton with the carpal skeleton. http://purl.obolibrary.org/obo/UBERON_0001491 radiocarpal joint|joint of wrist|joint of carpal region|carpal region joint MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome biolink:Disease mondo GARD:0003438|ICD10:Q00.0|UMLS:CN201798|Orphanet:2476 ORPHA:2476|UMLS:CN201798 http://purl.obolibrary.org/obo/MONDO_0016604 dysraphism, cleft lip/palate, limb reduction defects|Medeira-Dennis-Donnai syndrome ordo_malformation_syndrome UBERON:0001490 elbow joint biolink:AnatomicalEntity mondo A joint that connects the forelimb zeugopod and stylopod skeletons[Obol]. http://purl.obolibrary.org/obo/UBERON_0001490 joint of cubital region|articulatio cubiti|joint of elbow|cubital region joint UBERON:0001493 axillary nerve biolink:AnatomicalEntity mondo The axillary nerve is a nerve of the human body, that comes off the posterior cord of the brachial plexus at the level of the axilla (armpit) and carries nerve fibers from C5 and C6. The axillary nerve travels through the quadrangular space with the posterior circumflex humeral artery and vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001493 nervus axillaris|circumflex nerve|auxillery nerve|circumflex humeral nerve MONDO:0016605 perinatal lethal hypophosphatasia biolink:Disease mondo ICD10:E83.3|UMLS:C2673477|Orphanet:247623 A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. ORPHA:247623|UMLS:C2673477 http://purl.obolibrary.org/obo/MONDO_0016605 perinatal lethal Rathburn disease|perinatal lethal phosphoethanolaminuria ordo_clinical_subtype MONDO:0016606 prenatal benign hypophosphatasia biolink:Disease mondo UMLS:CN201801|ICD10:E83.3|Orphanet:247638 Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease. ORPHA:247638|UMLS:CN201801 http://purl.obolibrary.org/obo/MONDO_0016606 prenatal benign phosphoethanolaminuria|prenatal benign Rathburn disease ordo_clinical_subtype UBERON:0001492 radial nerve biolink:AnatomicalEntity mondo A nerve that supplies the upper limb, including the triceps brachii muscle of the arm, as well as all 12 muscles in the posterior osteofascial compartment of the forearm, as well as the associated joints and overlying skin. http://purl.obolibrary.org/obo/UBERON_0001492 nervus radialis MONDO:0016600 acute neonatal citrullinemia type I biolink:Disease mondo ICD10:E72.2|Orphanet:247546|UMLS:CN201793 Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. ORPHA:247546|UMLS:CN201793 http://purl.obolibrary.org/obo/MONDO_0016600 classic citrullinemia type I|acute neonatal citrullinemia type 1|classic citrullinemia type 1 ordo_clinical_subtype MONDO:0016601 adult-onset citrullinemia type I biolink:Disease mondo Orphanet:247573|UMLS:CN201794|ICD10:E72.2 Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. ORPHA:247573|UMLS:CN201794 http://purl.obolibrary.org/obo/MONDO_0016601 adult-onset citrullinemia type 1|late-onset citrullinemia type I|late-onset citrullinemia type 1 ordo_clinical_subtype MONDO:0016602 citrin deficiency biolink:Disease mondo UMLS:C1997910|SCTID:429735007|Orphanet:247582|ICD10:E72.2 Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). ORPHA:247582|UMLS:C1997910|SNOMEDCT:429735007 http://purl.obolibrary.org/obo/MONDO_0016602 ordo_group_of_disorders HGNC:8032 NTRK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/8032 UBERON:0001499 muscle of arm biolink:AnatomicalEntity mondo A muscle organ that is part of an arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001499 upper arm / lower arm muscle|arm muscle system|arm muscle|arm skeletal muscle|arm skeletal muscle tissue|muscle of upper arm or lower arm GO:0060537 muscle tissue development biolink:OntologyClass mondo The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers. http://purl.obolibrary.org/obo/GO_0060537 UBERON:0001498 muscle of pes biolink:AnatomicalEntity mondo Any muscle organ that is part of a pes [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001498 muscle of foot|foot muscle organ|foot muscle|muscle organ of foot HGNC:8031 NTRK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8031 MONDO:0004607 vallecula cancer biolink:Disease mondo ICD10:C10.0|DOID:8556|UMLS:C0153386|SCTID:363395000|ICD9:146.3 A cancer involving a epiglottic vallecula. SNOMEDCT:363395000|UMLS:C0153386|DOID:8556 http://purl.obolibrary.org/obo/MONDO_0004607 epiglottic vallecula cancer|malignant tumor of vallecula|cancer of epiglottic vallecula|malignant epiglottic vallecula neoplasm|malignant neoplasm of epiglottic vallecula GO:0072511 divalent inorganic cation transport biolink:OntologyClass mondo The directed movement of inorganic cations with a valency of two into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic cations are atoms or small molecules with a positive charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0072511 UBERON:0001494 ulnar nerve biolink:AnatomicalEntity mondo A nerve which runs near the ulna bone. http://purl.obolibrary.org/obo/UBERON_0001494 nervus ulnaris MONDO:0004606 obsolete pyoderma gangrenosum biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004606 UBERON:0001497 muscle of pelvic girdle biolink:AnatomicalEntity mondo Any muscle organ that is part of a pelvic girdle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001497 muscle organ of girdle-pelvic|pelvic girdle muscle organ|pelvic girdle muscle|pelvic girdle skeletal muscle|muscle organ of pelvic girdle bone|muscle organ of pelvic girdle|girdle-pelvic muscle organ MONDO:0004609 herpes simplex infectious disease biolink:Disease mondo ICD10:B00.9|EFO:1002022|ICD10:B00|MESH:D006561|SCTID:88594005|DOID:8566|ICD9:054|COHD:444429|ICD9:058.89|UMLS:C0019348 A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) UMLS:C0019348|MESH:D006561|DOID:8566|SNOMEDCT:88594005 http://purl.obolibrary.org/obo/MONDO_0004609 Simplexvirus disease or disorder|Simplexvirus infectious disease|herpes simplex infection|Simplexvirus caused disease or disorder|Herpesvirus hominis disease|herpes simplex|herpes simplex complex|herpes simplex viral infection MONDO:0004608 oropharynx cancer biolink:Disease mondo ICD9:146.6|UMLS:C0153390|UMLS:C0153382|ICD9:146.5|ICD10:C10|DOID:8557|ICD10:C10.9|ICD10:C10.8|GARD:0009358|UMLS:C0153389|UMLS:C3165521|ICD9:146|MESH:D009959|ICD10:C10.3|EFO:1001931|ICD10:C10.2|ICD9:146.9|UMLS:C2349952|NCIT:C7398|ICD9:146.7 A primary or metastatic malignant neoplasm that affects the oropharynx. MESH:D009959|NCIT:C7398|UMLS:C0153390|UMLS:C0153389|UMLS:C0153382|DOID:8557|UMLS:C2349952|UMLS:C3165521 http://purl.obolibrary.org/obo/MONDO_0004608 oropharyngeal cancer|malignant neoplasm of the oropharynx|malignant oropharyngeal tumor|malignant neoplasm of oropharynx|malignant tumour of mesopharynx|malignant neoplasm of junctional region of oropharynx|oropharyngeal carcinoma|primary malignant neoplasm of lateral wall of oropharynx|malignant tumor of posterior wall of oropharynx|oropharynx cancer|malignant tumor of oropharynx|malignant oropharyngeal neoplasm|malignant tumor of the oropharynx|malignant neoplasm of posterior wall of oropharynx|malignant neoplasm of lateral wall of oropharynx|malignant oropharynx neoplasm|cancer of oropharynx UBERON:0001496 ascending aorta biolink:AnatomicalEntity mondo The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia] http://purl.obolibrary.org/obo/UBERON_0001496 pars ascendens aortae|pars ascendens aortae|aorta ascendens|ascending thoracic aorta MONDO:0004625 phlebitis biolink:Disease mondo NCIT:C38003|SCTID:61599003|ICD10:I80|EFO:1001395|DOID:864|MESH:D010689 Inflammation of a vein. NCIT:C38003|DOID:864|MESH:D010689|SNOMEDCT:61599003 http://purl.obolibrary.org/obo/MONDO_0004625 vein inflammation|inflammation of vein CHEBI:24632 hydrocarbon biolink:ChemicalSubstance mondo A compound consisting of carbon and hydrogen only. http://purl.obolibrary.org/obo/CHEBI_24632 hidrocarburos|Kohlenwasserstoffe|hydrocarbons|hydrocarbure|Kohlenwasserstoff|hidrocarburo|hydrocarbon MONDO:0004624 uvula cancer biolink:Disease mondo ICD10:C05.2|NCIT:C35177|UMLS:C0153377|ICD9:145.4|SCTID:363389001|DOID:8635 A malignant neoplasm involving the palatine uvula. UMLS:C0153377|DOID:8635|SNOMEDCT:363389001|NCIT:C35177 http://purl.obolibrary.org/obo/MONDO_0004624 palatine uvula cancer|malignant uvular neoplasm|malignant neoplasm of palatine uvula|malignant uvula tumour|malignant palatine uvula neoplasm|malignant uvula tumor|malignant uvular tumour|malignant uvular tumor|malignant tumor of uvula|cancer of palatine uvula|malignant uvula neoplasm MONDO:0004627 duodenitis biolink:Disease mondo DOID:8643|MESH:D004382|SCTID:72007001|ICD10:K29.8|ICD9:535.6|NCIT:C94409|COHD:433516|UMLS:C0013298|ICD9:535.60 Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain. MESH:D004382|DOID:8643|NCIT:C94409|UMLS:C0013298|SNOMEDCT:72007001 http://purl.obolibrary.org/obo/MONDO_0004627 duodenum inflammation|hemorrhagic duodenitis|duodenitis|inflammation of duodenum MONDO:0004626 Hodgkin's paragranuloma biolink:Disease mondo DOID:8642|NCIT:C26956 DOID:8642|NCIT:C26956 http://purl.obolibrary.org/obo/MONDO_0004626 Hodgkin paragranuloma MONDO:0004621 upper lip cancer biolink:Disease mondo ICD9:140.0|ICD10:C00.0|ICD9:140.3|ICD10:C00.3|DOID:8630 A malignant neoplasm involving the upper lip. DOID:8630 http://purl.obolibrary.org/obo/MONDO_0004621 cancer of upper lip|upper lip cancer|malignant neoplasm of upper lip|malignant upper lip neoplasm MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion biolink:Disease mondo ONCOTREE:LDCHL|COHD:4041798|DOID:8628|NCIT:C9125|SCTID:118610003|ICD9:201.7|ICD10:C81.3 A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008) SNOMEDCT:118610003|DOID:8628|NCIT:C9125 http://purl.obolibrary.org/obo/MONDO_0004620 adult HDLD|adult LDHD|Hodgkin's disease, lymphocytic depletion|lymphocyte-depleted classical Hodgkin lymphoma|Hodgkin's lymphocytic depletion of unspecified site|adult lymphocyte-depleted classical Hodgkin lymphoma|Hodgkin's disease, lymphocytic depletion NOS|adult lymphocyte depleted Hodgkin's lymphoma|adult lymphocyte depleted classical Hodgkin lymphoma|Adult lymphocyte-depleted Classic Hodgkin lymphoma|Hodgkin lymphoma, lymphocyte depletion|adult lymphocyte depleted Hodgkin lymphoma|adult lymphocyte depletion Hodgkin's disease|Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)|Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites MONDO:0004623 obsolete prostate carcinoma in situ biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004623 MONDO:0004622 chronic intestinal vascular insufficiency biolink:Disease mondo SCTID:111354009|ICD9:557.1|UMLS:C0311262|DOID:8633 DOID:8633|SNOMEDCT:111354009|UMLS:C0311262 http://purl.obolibrary.org/obo/MONDO_0004622 CMI - chronic mesenteric ischaemia|chronic mesenteric ischemia UBERON:0001480 proximal carpal bone biolink:AnatomicalEntity mondo A carpal bone that proximally_connected_to a forelimb zeugopod skeleton. http://purl.obolibrary.org/obo/UBERON_0001480 UBERON:0001482 muscle of shoulder biolink:AnatomicalEntity mondo Any muscle organ that is part of a shoulder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001482 shoulder muscle organ|shoulder muscle|muscle organ of shoulder GO:0072509 divalent inorganic cation transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of inorganic cations with a valency of two from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0072509 GO:0072507 divalent inorganic cation homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. http://purl.obolibrary.org/obo/GO_0072507 UBERON:0001488 ankle joint biolink:AnatomicalEntity mondo A joint that connects the hindlimb autopod and zeugopod skeletons. http://purl.obolibrary.org/obo/UBERON_0001488 talotibial joint|talocrural articulation|hock|gambrel|hock joint|talocrural joint|mortise joint UBERON:0001487 pes joint biolink:AnatomicalEntity mondo A skeletal joint that is part of a pes [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001487 joint of terminal segment of free lower limb|foot joint|articulationes pedis|pedal joint|joints of foot|hind limb autopod joint|joint of pes GO:0072503 cellular divalent inorganic cation homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of divalent cations at the level of a cell. http://purl.obolibrary.org/obo/GO_0072503 UBERON:0001489 manus joint biolink:AnatomicalEntity mondo A skeletal joint that is part of a manus (hand) [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001489 joint of terminal segment of free upper limb|hand joint|articulationes manus|joint of manus|joint of hand|manual joint UBERON:0001484 articular capsule biolink:AnatomicalEntity mondo An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001484 capsula articularis|joint capsule|joint fibrous capsule|capsulae articulares|fibrous capsule of joint MONDO:0004618 diplegia of upper limb biolink:Disease mondo DOID:862|UMLS:C0154701|SCTID:54099005|ICD10:G83.0|ICD9:344.2 SNOMEDCT:54099005|UMLS:C0154701|DOID:862 http://purl.obolibrary.org/obo/MONDO_0004618 diplegia of upper limbs|diplegia, upper MONDO:0004617 recurrent hypersomnia biolink:Disease mondo ICD10:G47.13|SCTID:426451004|DOID:8619|ICD9:327.13|UMLS:C0751226 Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320) DOID:8619|SNOMEDCT:426451004|UMLS:C0751226 http://purl.obolibrary.org/obo/MONDO_0004617 primary recurrent hypersomnia UBERON:0001483 skin of shoulder biolink:AnatomicalEntity mondo A zone of skin that is part of a shoulder region. http://purl.obolibrary.org/obo/UBERON_0001483 shoulder zone of skin|shoulder skin|zone of skin of shoulder MONDO:0004619 measles biolink:Disease mondo GARD:0003434|DOID:8622|SCTID:14189004|UMLS:C0025007|ICD9:055|ICD10:B05|MESH:D008457|ICD10:B05.9|NCIT:C96406|EFO:1002025 A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). SNOMEDCT:14189004|NCIT:C96406|DOID:8622|UMLS:C0025007|MESH:D008457 http://purl.obolibrary.org/obo/MONDO_0004619 Measles morbillivirus infectious disease|Measles morbillivirus caused disease or disorder|rubeola|morbilli|Measles morbillivirus disease or disorder|rubeola infection gard_rare UBERON:0001485 knee joint biolink:AnatomicalEntity mondo The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation[WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001485 joint of knee|articulatio genus MONDO:0002017 olivopontocerebellar atrophy biolink:Disease mondo SCTID:67761004|MESH:D009849|GARD:0007250|NCIT:C84947|UMLS:C0028968|ICD10:G23.8|DOID:14784|ICD9:333.0 A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives. UMLS:C0028968|MESH:D009849|DOID:14784|SNOMEDCT:67761004|NCIT:C84947 http://purl.obolibrary.org/obo/MONDO_0002017 Dejerine-Thomas syndrome|OPCA|WADIA-swami syndrome|Thomas' syndrome MONDO:0004679 leukoplakia of vagina biolink:Disease mondo ICD9:623.1|ICD10:N89.4|DOID:8920|UMLS:C0156385|COHD:194703|SCTID:111420009|NCIT:C3663 Leukoplakia of the vagina. UMLS:C0156385|SNOMEDCT:111420009|NCIT:C3663|DOID:8920 http://purl.obolibrary.org/obo/MONDO_0004679 vaginal leukoplakia|leukoplakia of the vagina MONDO:0002018 obsolete Leber congenital amaurosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002018 MONDO:0002019 obsolete hypohidrotic ectodermal dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002019 SO:0000001 region biolink:SequenceFeature mondo A sequence_feature with an extent greater than zero. A nucleotide region is composed of bases and a polypeptide region is composed of amino acids. http://purl.obolibrary.org/obo/SO_0000001 sequence MONDO:0002013 lymphangioma biolink:Disease mondo ICD9:228.1|MESH:D008202|ICD10:D18.1|ICDO:9170/0|COHD:433997|DOID:1475|SCTID:400178008|GARD:0009789|SCTID:254836000|NCIT:C8965|UMLS:CN201700|Orphanet:2415 A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. UMLS:CN201700|MESH:D008202|NCIT:C8965|DOID:1475|SNOMEDCT:400178008|SNOMEDCT:254836000|ORPHA:2415 http://purl.obolibrary.org/obo/MONDO_0002013 LM|lymphangioma, benign|congenital lymphangioma|lymphangioma|benign lymphangioma (morphologic abnormality)|benign lymphangioma ordo_group_of_disorders MONDO:0004676 obsolete progressive myoclonus epilepsy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004676 MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type biolink:Disease mondo UMLS:C0268340|DOID:14759|SCTID:70610001 The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. DOID:14759|SNOMEDCT:70610001|UMLS:C0268340 http://purl.obolibrary.org/obo/MONDO_0002014 autosomal recessive type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, recessive type 4|Ehlers-Danlos syndrome, vascular type, autosomal recessive MONDO:0004675 mitochondrial encephalomyopathy biolink:Disease mondo ICD9:277.87|MESH:D017237|SCTID:447292006|UMLS:C0162666|DOID:890 A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) DOID:890|UMLS:C0162666|MESH:D017237|SNOMEDCT:447292006 http://purl.obolibrary.org/obo/MONDO_0004675 MONDO:0004678 dermatophytosis biolink:Disease mondo DOID:8913|ICD9:110|ICD9:110.9|UMLS:C0011636|NCIT:C26745|ICD9:110.8|ICD10:B35.9|COHD:135473|SCTID:47382004|ICD10:B35 A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. SNOMEDCT:47382004|UMLS:C0011636|NCIT:C26745|DOID:8913 http://purl.obolibrary.org/obo/MONDO_0004678 dermatomycosis|skin diseases, fungal|skin disease, fungal|fungal skin diseases|ringworm|fungal skin disease MONDO:0002015 obsolete brittle cornea syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002015 MONDO:0004677 tinea nigra biolink:Disease mondo COHD:134865|DOID:8912|UMLS:C0152067|ICD10:B36.1|ICD9:111.1|SCTID:183342005 A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. UMLS:C0152067|SNOMEDCT:183342005|DOID:8912 http://purl.obolibrary.org/obo/MONDO_0004677 Tinea palmaris nigra|infection by Cladosporium werneckii|microsporosis nigra|keratomycosis nigricans MONDO:0002016 benign familial neonatal epilepsy biolink:Disease mondo GARD:0002159|DOID:14777|SCTID:279953009 A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5) SNOMEDCT:279953009|DOID:14777 http://purl.obolibrary.org/obo/MONDO_0002016 familial neonatal seizures MONDO:0004672 fasciolopsiasis biolink:Disease mondo NCIT:C128388|DOID:888|ICD9:121.4|SCTID:54266002|ICD10:B66.5|UMLS:C0015656 A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. DOID:888|SNOMEDCT:54266002|UMLS:C0015656|NCIT:C128388 http://purl.obolibrary.org/obo/MONDO_0004672 infectious disease by Fasciolopsis|infection by Fasciolopsis buski GO:1901402 negative regulation of tetrapyrrole metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole metabolic process. http://purl.obolibrary.org/obo/GO_1901402 inhibition of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolic process|inhibition of tetrapyrrole metabolic process|negative regulation of tetrapyrrole metabolism|down-regulation of tetrapyrrole metabolic process|down-regulation of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolic process MONDO:0002010 FG syndrome biolink:Disease mondo UMLS:C0220769|OMIMPS:305400|DOID:14711|Orphanet:323|ICD9:759.89|SCTID:49984004|GARD:0002317 FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. ORPHA:323|DOID:14711|SNOMEDCT:49984004|UMLS:C0220769 http://purl.obolibrary.org/obo/MONDO_0002010 FGS|Opitz-Kaveggia syndrome|Keller syndrome|FGS1|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum gard_rare GO:1901403 positive regulation of tetrapyrrole metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of tetrapyrrole metabolic process. http://purl.obolibrary.org/obo/GO_1901403 positive regulation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolism|up regulation of tetrapyrrole metabolic process|up-regulation of tetrapyrrole metabolism|up-regulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolic process|up regulation of tetrapyrrole metabolism MONDO:0004671 penis carcinoma in situ biolink:Disease mondo COHD:193162|UMLS:C0154089|ICDO:8080/2|NCIT:C27790|DOID:8872|ICD10:D00-D09|ICD10:D07.4|ICD9:233.5|SCTID:398831006 A in situ carcinoma that involves the penis. SNOMEDCT:398831006|UMLS:C0154089|NCIT:C27790|DOID:8872 http://purl.obolibrary.org/obo/MONDO_0004671 Bowen disease of the penis|stage 0 penile carcinoma in situ|carcinoma in situ of the penis|penile carcinoma in situ|carcinoma in situ of penis|stage 0 penis carcinoma|Bowen's disease of penis|grade III squamous intraepithelial lesion of penis|penis in situ carcinoma|Queyrat's erythroplasia|penile carcinoma in situ aJCC v7|erythroplasia of Queyrat|penile intraepithelial neoplasia grade III|Bowen's disease of the penis|grade III penile intraepithelial neoplasia|Queyrat erythroplasia|grade III squamous intraepithelial lesion of the penis MONDO:0004674 chorioretinitis (disease) biolink:Disease mondo NCIT:C110923|GARD:0006060|ICD10:H30.9|HP:0012424|DOID:8886|MESH:D002825|ICD9:363.20|COHD:434033|ICD10:H30|SCTID:46627006|UMLS:C0008513 Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. UMLS:C0008513|SNOMEDCT:46627006|DOID:8886|NCIT:C110923|MESH:D002825 http://purl.obolibrary.org/obo/MONDO_0004674 retinochoroiditis|chorioretinitis MONDO:0002011 obsolete hereditary angioedema biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002011 MONDO:0002012 methylmalonic acidemia biolink:Disease mondo DOID:14749|UMLS:C0268583|SCTID:42393006|ICD10:E71.120|NCIT:C98986|GARD:0007033|ICD9:270.7|UMLS:C1855119 A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. UMLS:C1855119|DOID:14749|NCIT:C98986|UMLS:C0268583|SNOMEDCT:42393006 http://purl.obolibrary.org/obo/MONDO_0002012 METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|methylmalonic aciduria mut type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria type cblB|methylmalonic aciduria|methylmalonic aciduria type cblA|methylmalonic acidemia, cblA type|methylmalonic acidemia, cblB type|methylmalonic aciduria cblB type|methylmalonic aciduria, mut type|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B MONDO:0004673 lower lip cancer biolink:Disease mondo DOID:8883|ICD10:C00.1|ICD9:140.1|SCTID:363373004|UMLS:C0432520 A malignant neoplasm involving the lower lip. SNOMEDCT:363373004|UMLS:C0432520|DOID:8883 http://purl.obolibrary.org/obo/MONDO_0004673 lower lip cancer|malignant lower lip neoplasm|malignant neoplasm of lower lip|cancer of lower lip GO:1901401 regulation of tetrapyrrole metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of tetrapyrrole metabolic process. http://purl.obolibrary.org/obo/GO_1901401 regulation of tetrapyrrole metabolism MONDO:0004670 lupus erythematosus biolink:Disease mondo SCTID:200936003|ICD9:695.4|COHD:255891|UMLS:C0409974|ICD10:L93.0|ICD10:L93|DOID:8857|NCIT:C27153 An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. NCIT:C27153|SNOMEDCT:200936003|UMLS:C0409974|DOID:8857 http://purl.obolibrary.org/obo/MONDO_0004670 lupus|lupus erythematosus MONDO:0016669 sickle cell-hemoglobin c disease syndrome biolink:Disease mondo Orphanet:251365|UMLS:C0019034|MedDRA:10057072|GARD:0006584|ICD10:D57.2 UMLS:C0019034|MEDDRA:10057072|ORPHA:251365 http://purl.obolibrary.org/obo/MONDO_0016669 HbSC disease|sickle cell - hemoglobin C disease ordo_disease MONDO:0014006 Schuurs-Hoeijmakers syndrome biolink:Disease mondo DOID:0070047|Orphanet:329224|NCIT:C150555|OMIM:615009|UMLS:C3554343|GARD:0013043 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed. ORPHA:329224|NCIT:C150555|UMLS:C3554343|http://identifiers.org/omim/615009|DOID:0070047 http://purl.obolibrary.org/obo/MONDO_0014006 autosomal dominant intellectual disability-17|autosomal dominant intellectual disability 17|Schuurs-Hoeijmakers syndrome|PACS1-related syndrome|autosomal dominant mental retardation 17|intellectual disability, autosomal dominant type 17|mental retardation, autosomal dominant 17|MRD17|Schuurs-Hoeijmakers syndrome; SHMS|mental retardation, autosomal dominant 17; MRD17|SHMS|mental retardation, autosomal dominant type 17|intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome|intellectual disability, autosomal dominant 17|intellectual disability, autosomal dominant 17; MRD17 ordo_malformation_syndrome MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis biolink:Disease mondo NCIT:C123055|Orphanet:329903|ICD10:N00.5|OMIM:615008 Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. ORPHA:329903|http://identifiers.org/omim/615008|UMLS:C1720821|NCIT:C123055|UMLS:C0268742 http://purl.obolibrary.org/obo/MONDO_0014005 Mesangiocapillary glomerulonephritis type 1|NPHS7|Ig-mediated membranoproliferative glomerulonephritis|immune Complex mediated membranoproliferative glomerulonephritis|membranoproliferative glomerulonephritis type I|Immunoglobulin-mediated MPGN|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis|Ig-mediated MPGN|nephrotic syndrome, type 7; NPHS7|nephrotic syndrome, type 7|hemolytic uremic syndrome, atypical, susceptibility to, 7|Ahus, susceptibility to, 7 predisposition|ordo_clinical_subtype MONDO:0014004 basal ganglia calcification, idiopathic, 4 biolink:Disease mondo OMIM:615007|UMLS:C3554321 UMLS:C3554321|http://identifiers.org/omim/615007 http://purl.obolibrary.org/obo/MONDO_0014004 basal ganglia calcification, idiopathic, type 4|basal ganglia calcification, idiopathic, 4; IBGC4|basal ganglia calcification, idiopathic, 4|IBGC4 MONDO:0014003 developmental and epileptic encephalopathy, 15 biolink:Disease mondo UMLS:C3554316|OMIM:615006 UMLS:C3554316|http://identifiers.org/omim/615006 http://purl.obolibrary.org/obo/MONDO_0014003 epileptic encephalopathy, early infantile, 15; EIEE15|epileptic encephalopathy, early infantile, 15|epileptic encephalopathy, early infantile, type 15|DEE15|EIEE15 MONDO:0016665 unclassified vasculitis biolink:Disease mondo ICD10:M31.8|Orphanet:251328 ORPHA:251328 http://purl.obolibrary.org/obo/MONDO_0016665 ordo_disease MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome biolink:Disease mondo Orphanet:251332|UMLS:CN201905 UMLS:CN201905|ORPHA:251332 http://purl.obolibrary.org/obo/MONDO_0016666 ordo_disease MONDO:0014009 autosomal recessive congenital ichthyosis 7 biolink:Disease mondo ICD10:Q80.2|DOID:0060716|OMIM:615022|UMLS:C3554348 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1. UMLS:C3554348|DOID:0060716|http://identifiers.org/omim/615022 http://purl.obolibrary.org/obo/MONDO_0014009 ichthyosis, congenital, autosomal recessive 7; ARCI7|ichthyosis, congenital, autosomal recessive 7|autosomal recessive congenital ichthyosis type 7|ARCI7 GO:0060556 regulation of vitamin D biosynthetic process biolink:OntologyClass mondo Any process that modulates the rate frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). http://purl.obolibrary.org/obo/GO_0060556 GO:0060557 positive regulation of vitamin D biosynthetic process biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). http://purl.obolibrary.org/obo/GO_0060557 MONDO:0016667 sickle cell disease associated with an other hemoglobin anomaly biolink:Disease mondo UMLS:CN201907|GARD:0012459|ICD10:D57.2|Orphanet:251355 UMLS:CN201907|ORPHA:251355 http://purl.obolibrary.org/obo/MONDO_0016667 Double heterozygotes sickling disorder ordo_group_of_disorders|gard_rare MONDO:0014008 phosphohydroxylysinuria biolink:Disease mondo UMLS:C3554344|OMIM:615011 UMLS:C3554344|http://identifiers.org/omim/615011 http://purl.obolibrary.org/obo/MONDO_0014008 PHLU|PHOSPHOHYDROXYLYSINURIA; PHLU|Phosphohydroxylysinuria MONDO:0016668 sickle cell-beta-thalassemia disease syndrome biolink:Disease mondo GARD:0010333|NCIT:C95539|SCTID:127041004|MedDRA:10040655|Orphanet:251359|MedDRA:10055579|ICD10:D57.2 Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person. MEDDRA:10040655|UMLS:C0857812|UMLS:C0221019|SNOMEDCT:127041004|ORPHA:251359|MEDDRA:10055579|NCIT:C95539 http://purl.obolibrary.org/obo/MONDO_0016668 sickle cell - beta-thalassemia disease|sickle cell-Beta thalassemia|Hb S beta-thalassemia|HbS-beta-thalassemia syndrome|Hb S-Beta thalassemia|Hemoglobin sickle-beta thalassemia|sickle cell-beta-thalassemia disease syndrome|S-Beta thalassemia|HbS - beta-thalassemia|sickle beta thalassemia|sickle cell-Beta-thalassemia ordo_disease|gard_rare MONDO:0014007 Aicardi-Goutieres syndrome 6 biolink:Disease mondo UMLS:C3539013|OMIM:615010 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene. UMLS:C3539013|http://identifiers.org/omim/615010 http://purl.obolibrary.org/obo/MONDO_0014007 ADAR Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in ADAR|Adar Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in Adar|AGS6|Aicardi-Goutieres syndrome type 6|Aicardi-Goutieres syndrome 6|Aicardi-Goutieres syndrome 6; AGS6 MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis biolink:Disease mondo Orphanet:251304|ICD10:M08.8 ORPHA:251304 http://purl.obolibrary.org/obo/MONDO_0016661 ordo_disease MONDO:0016662 idiopathic recurrent pericarditis biolink:Disease mondo ICD10:I09.2|Orphanet:251307|SCTID:766704005 Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication. ORPHA:251307|SNOMEDCT:766704005 http://purl.obolibrary.org/obo/MONDO_0016662 idiopathic relapsing pericarditis ordo_disease MONDO:0016663 overlapping connective tissue disease biolink:Disease mondo UMLS:CN201903|MedDRA:10027754|Orphanet:251312|ICD10:M35.1 ORPHA:251312|MEDDRA:10027754|UMLS:CN201903 http://purl.obolibrary.org/obo/MONDO_0016663 ordo_group_of_disorders MONDO:0016664 drug-induced vasculitis biolink:Disease mondo ICD10:M31.8|NCIT:C112204|UMLS:C3812646|Orphanet:251325 A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations. ORPHA:251325|NCIT:C112204|UMLS:C3812646 http://purl.obolibrary.org/obo/MONDO_0016664 drug induced vasculitis|drug induced cutaneous vasculitis ordo_disease MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 biolink:Disease mondo DOID:0060686|UMLS:C3554306|OMIM:615005 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene. UMLS:C3554306|http://identifiers.org/omim/615005|DOID:0060686 http://purl.obolibrary.org/obo/MONDO_0014002 epilepsy, nocturnal frontal lobe, type 5|autosomal dominant nocturnal frontal lobe epilepsy type 5|ENFL5|epilepsy, nocturnal frontal lobe, 5|nocturnal frontal lobe epilepsy 5|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1|epilepsy, nocturnal frontal lobe, 5; ENFL5|KCNT1 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0014001 Usher syndrome type 1K biolink:Disease mondo OMIM:614990|UMLS:C3539124|ICD10:H35.5|DOID:0110837 An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1. DOID:0110837|http://identifiers.org/omim/614990|UMLS:C3539124 http://purl.obolibrary.org/obo/MONDO_0014001 Usher syndrome type IK|USH1K|USHER syndrome, type IK; USH1K|USHER syndrome, type IK MONDO:0014000 congenital heart defects, multiple types, 2 biolink:Disease mondo OMIM:614980|UMLS:C3554279 Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene. UMLS:C3554279|http://identifiers.org/omim/614980 http://purl.obolibrary.org/obo/MONDO_0014000 congenital heart defects, multiple types, 2; CHTD2|CHTD2|TAB2 congenital heart malformation|congenital heart malformation caused by mutation in TAB2|congenital heart defects, multiple types, 2 MONDO:0016660 autosomal recessive primary microcephaly biolink:Disease mondo DOID:0070296|SCTID:715981004|OMIMPS:251200|UMLS:C3711387|MESH:C579935|ICD10:Q02|GARD:0012117|DC:0000277|Orphanet:2512 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. SNOMEDCT:715981004|DOID:0070296|ORPHA:2512|MESH:C579935|UMLS:C3711387 http://purl.obolibrary.org/obo/MONDO_0016660 true microcephaly|microcephaly vera|microcephaly, primary, autosomal recessive|microcephalia vera|microcephaly, primary autosomal recessive|MCPH gard_rare|ordo_etiological_subtype|clingen HGNC:8059 NUMA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8059 MONDO:0002028 personality disorder (disease) biolink:Disease mondo DOID:1510|SCTID:33449004|ICD9:301.89|ICD9:301.8|NCIT:C34922|COHD:441838|HP:0012075|ICD9:301.9 A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work. NCIT:C34922|DOID:1510|SNOMEDCT:33449004 http://purl.obolibrary.org/obo/MONDO_0002028 character disorder|personality disorder MONDO:0002029 chronic gonorrhea of cervix biolink:Disease mondo ICD9:098.35|SCTID:76802005|UMLS:C0153206|DOID:1512 Chronic form of gonococcal cervicitis. SNOMEDCT:76802005|DOID:1512|UMLS:C0153206 http://purl.obolibrary.org/obo/MONDO_0002029 gonococcal cervicitis, chronic|chronic gonococcal cervicitis MONDO:0004687 severe nonproliferative diabetic retinopathy biolink:Disease mondo ICD9:362.06|UMLS:C0730278|SCTID:312905005|DOID:8946 UMLS:C0730278|SNOMEDCT:312905005|DOID:8946 http://purl.obolibrary.org/obo/MONDO_0004687 high risk non proliferative diabetic retinopathy|severe nonproliferative diabetic retinopathy|severe npdr|severe NPDR|severe nonproliferative retinopathy MONDO:0002024 obsolete cholera biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002024 MONDO:0004686 lattice corneal dystrophy (disease) biolink:Disease mondo DOID:8943|HP:0001149|ICD9:357.4|SCTID:1192004|ICD9:277.39|UMLS:C0155127 UMLS:C0155127|DOID:8943|SNOMEDCT:1192004 http://purl.obolibrary.org/obo/MONDO_0004686 lattice corneal dystrophy|familial amyloid neuropathy, Finnish type MONDO:0002025 psychiatric disorder biolink:Disease mondo ICD10:F99|MESH:D001523|NCIT:C2893|MFOMD:0000004|ICD10:F99-F99|DOID:150 A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. DOID:150|MESH:D001523|NCIT:C2893 http://purl.obolibrary.org/obo/MONDO_0002025 Psychiatric disease|mental disorder|Psychiatric disorder|mental dysfunction|disease of mental health|mental illness MONDO:0002026 candidiasis biolink:Disease mondo MESH:D002177|ICD10:B37|UMLS:C0006840|DOID:1508|ICD9:112|SCTID:78048006|ICD9:112.9|NCIT:C26711|ICD9:112.89|COHD:433968|ICD10:B37.9 Infection with the organism Candida. UMLS:C0006840|DOID:1508|NCIT:C26711|MESH:D002177|SNOMEDCT:78048006 http://purl.obolibrary.org/obo/MONDO_0002026 disseminated candidiasis|infections, Candida |Candida infection|Candida infection|systemic candidiasis|Candidosis|thrush MONDO:0004689 inborn metal metabolism disorder biolink:Disease mondo MESH:D008664|DOID:896|UMLS:C0025534 An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. UMLS:C0025534|DOID:896|MESH:D008664 http://purl.obolibrary.org/obo/MONDO_0004689 metal metabolism disorder|metal metabolism, inborn error HGNC:8063 NUP155 biolink:OntologyClass mondo http://identifiers.org/hgnc/8063 MONDO:0002027 avoidant personality disorder biolink:Disease mondo ICD10:F60.6|NCIT:C92636|ICD9:301.82|SCTID:231528008|COHD:437524|DOID:1509 A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection. NCIT:C92636|SNOMEDCT:231528008|DOID:1509 http://purl.obolibrary.org/obo/MONDO_0002027 anxious personality disorder MONDO:0004688 obsolete sideroblastic anemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004688 MONDO:0004683 obsolete Evans' syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004683 MONDO:0002020 obsolete Blount disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002020 obsolete Blount's disease MONDO:0002021 gingival disease biolink:Disease mondo DOID:1483|SCTID:18718003|MESH:D005882|UMLS:C0017563 A disease involving the gingiva. DOID:1483|UMLS:C0017563|MESH:D005882|SNOMEDCT:18718003 http://purl.obolibrary.org/obo/MONDO_0002021 disorder of gingiva|disorder of gingiva|gingiva disease|disease or disorder of gingiva|disease of gingiva|gingiva disease or disorder MONDO:0004682 retromolar area cancer biolink:Disease mondo DOID:8930|ICD10:C06.2|ICD9:145.6|SCTID:363391009 A malignant form of neoplasm of retromolar area. DOID:8930|SNOMEDCT:363391009 http://purl.obolibrary.org/obo/MONDO_0004682 malignant tumor of retromolar area|neoplasm of retromolar area, malignant|malignant neoplasm of retromolar area MONDO:0002022 disease of orbital region biolink:Disease mondo ICD10:H00.H59|ICD9:362.10|DOID:1492|ICD10:H35.00|SCTID:371409005 A disease that involves the orbital region. DOID:1492|SNOMEDCT:371409005 http://purl.obolibrary.org/obo/MONDO_0002022 disorder of eye region|orbital region disease|ophthalmological disorder|orbital region disease or disorder|disorder of orbital region|eye and adnexa disease|disease of orbital region|disorder of orbital region|disease or disorder of orbital region MONDO:0004685 Waldeyer's ring cancer biolink:Disease mondo ICD9:149.1|ICD10:C14.2|UMLS:C0153406|SCTID:187716008|DOID:8937 A malignant neoplasm involving the tonsillar ring. SNOMEDCT:187716008|UMLS:C0153406|DOID:8937 http://purl.obolibrary.org/obo/MONDO_0004685 tonsillar ring cancer|Waldeyer ring cancer|malignant neoplasm of Waldeyer's ring|malignant tonsillar ring neoplasm|cancer of tonsillar ring|malignant tumor of Waldeyer's ring|malignant neoplasm of tonsillar ring MONDO:0002023 obsolete cystic echinococcosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002023 MONDO:0004684 plantar fibromatosis biolink:Disease mondo NCIT:C4680|EFO:1000481|ICD10:M72.2|SCTID:13370002|ICD9:728.71|DOID:8936 A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. NCIT:C4680|DOID:8936|SNOMEDCT:13370002 http://purl.obolibrary.org/obo/MONDO_0004684 Dupuytren's contracture of foot|plantar part of pes superficial Fibromatosis|plantar part of pes superficial fibromatosis|Ledderhose's disease|plantar fibromatosis|plantar fascial fibromatosis|superficial Fibromatosis of plantar part of pes|superficial fibromatosis of plantar part of pes NCBITaxon:1759442 Trichosporonaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1759442 MONDO:0004681 learning disability biolink:Disease mondo ICD9:315.2|UMLS:CN229495|SCTID:1855002|DOID:8927|ICD10:F81.9|MESH:D007859|NCIT:C89334 A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect. MESH:D007859|UMLS:CN229495|DOID:8927|NCIT:C89334|SNOMEDCT:1855002 http://purl.obolibrary.org/obo/MONDO_0004681 learning disorder|Academic skill disorder MONDO:0004680 primary thrombocytopenia biolink:Disease mondo SCTID:267534000|COHD:441264|ICD9:287.3|ICD9:287.39|ICD10:D69.49|ICD10:D69.4|ICD9:287.30|DOID:8925|UMLS:C0701157 SNOMEDCT:267534000|UMLS:C0701157|DOID:8925 http://purl.obolibrary.org/obo/MONDO_0004680 MONDO:0016658 8p23.1 microdeletion syndrome biolink:Disease mondo SCTID:716381003|ICD10:Q93.5|Orphanet:251071|GARD:0003769|UMLS:CN201888|MESH:C537827 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. SNOMEDCT:716381003|UMLS:CN201888|MESH:C537827|ORPHA:251071 http://purl.obolibrary.org/obo/MONDO_0016658 Del(8)(p23.1)|deletion 8p23.1|chromosome 8p23.1 deletion|8p23.1 deletion|monosomy 8p23.1 ordo_malformation_syndrome MONDO:0016659 8p23.1 duplication syndrome biolink:Disease mondo GARD:0010304|ICD10:Q92.3|Orphanet:251076|SCTID:765140006|UMLS:CN201889 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). UMLS:CN201889|ORPHA:251076|SNOMEDCT:765140006 http://purl.obolibrary.org/obo/MONDO_0016659 dup(8)(p23.1p23.1)|trisomy 8p23.1 ordo_malformation_syndrome|gard_rare MONDO:0016654 ring chromosome 5 biolink:Disease mondo GARD:0010841|Orphanet:251043|SCTID:765487008|UMLS:C4050064|NCIT:C121984|ICD10:Q93.2 Gene expression cluster 5 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia. NCIT:C121984|ORPHA:251043|UMLS:C4050064|SNOMEDCT:765487008 http://purl.obolibrary.org/obo/MONDO_0016654 rose cluster 5|R5|Ring chromosome 5 syndrome|Ring 5|Ring chromosome type 5|chromosome 5 ring gard_rare|ordo_malformation_syndrome MONDO:0016655 6p22 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|Orphanet:251046|UMLS:CN201884|SCTID:719662000|UMLS:C4304528 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. UMLS:CN201884|UMLS:C4304528|ORPHA:251046|SNOMEDCT:719662000 http://purl.obolibrary.org/obo/MONDO_0016655 Del(6)(p22)|monosomy 6p22 ordo_malformation_syndrome MONDO:0016656 7q31 microdeletion syndrome biolink:Disease mondo Orphanet:251061|ICD10:Q93.5|UMLS:CN201886 UMLS:CN201886|ORPHA:251061 http://purl.obolibrary.org/obo/MONDO_0016656 monosomy 7q31|Del(7)(q31) ordo_malformation_syndrome GO:0072527 pyrimidine-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a pyrimidine-containing compound, i.e. any compound that contains pyrimidine or a formal derivative thereof. http://purl.obolibrary.org/obo/GO_0072527 pyrimidine-containing compound metabolism|pyrimidine and derivative metabolic process MONDO:0016657 8p11.2 deletion syndrome biolink:Disease mondo Orphanet:251066|SCTID:719646006|UMLS:C4304505|ICD10:Q93.5|UMLS:CN201887 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. UMLS:CN201887|UMLS:C4304505|ORPHA:251066|SNOMEDCT:719646006 http://purl.obolibrary.org/obo/MONDO_0016657 monosomy 8p11.2|Del(8)(p11.2) ordo_malformation_syndrome MONDO:0016650 paternal uniparental disomy of chromosome 1 biolink:Disease mondo SCTID:766719006|ICD10:Q99.8|Orphanet:251004 Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. ORPHA:251004|SNOMEDCT:766719006 http://purl.obolibrary.org/obo/MONDO_0016650 paternal uniparental disomy of chromosome type 1|UPD(1)pat ordo_malformation_syndrome GO:0060548 negative regulation of cell death biolink:OntologyClass mondo Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. http://purl.obolibrary.org/obo/GO_0060548 GO:0072525 pyridine-containing compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof. http://purl.obolibrary.org/obo/GO_0072525 pyridine-containing compound synthesis|pyridine-containing compound biosynthesis|pyridine-containing compound formation|pyridine and derivative biosynthetic process|pyridine-containing compound anabolism HGNC:8064 NUP214 biolink:OntologyClass mondo http://identifiers.org/hgnc/8064 MONDO:0016651 maternal uniparental disomy of chromosome 1 biolink:Disease mondo Orphanet:251009|ICD10:Q99.8 Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. ORPHA:251009 http://purl.obolibrary.org/obo/MONDO_0016651 UPD(1)mat|maternal uniparental disomy of chromosome type 1 ordo_malformation_syndrome MONDO:0016652 2q31.1 microdeletion syndrome biolink:Disease mondo UMLS:C4274647|SCTID:716387004|UMLS:CN201880|Orphanet:251014|ICD10:Q93.5 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. UMLS:CN201880|SNOMEDCT:716387004|ORPHA:251014|UMLS:C4274647 http://purl.obolibrary.org/obo/MONDO_0016652 monosomy 2q31.1|Del(2)(q31.1) ordo_malformation_syndrome GO:0072524 pyridine-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof. http://purl.obolibrary.org/obo/GO_0072524 pyridine-containing compound metabolism|pyridine and derivative metabolic process HGNC:8067 NUP88 biolink:OntologyClass mondo http://identifiers.org/hgnc/8067 MONDO:0016653 2q33.1 microdeletion syndrome biolink:Disease mondo UMLS:CN201882|ICD10:Q93.5|SCTID:763062006|Orphanet:251028 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. UMLS:CN201882|SNOMEDCT:763062006|ORPHA:251028 http://purl.obolibrary.org/obo/MONDO_0016653 Del(2)(q33.1)|monosomy 2q33.1 ordo_malformation_syndrome HGNC:8066 NUP62 biolink:OntologyClass mondo http://identifiers.org/hgnc/8066 GO:0072522 purine-containing compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/GO_0072522 purine and derivative biosynthetic process|purine-containing compound anabolism|purine-containing compound biosynthesis|purine-containing compound synthesis|purine-containing compound formation GO:0072521 purine-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolism|purine and derivative metabolic process MONDO:0004658 breast carcinoma in situ biolink:Disease mondo SCTID:189336000|ICD9:233.0|DOID:8791|UMLS:C0154084|ICD10:D05|NCIT:C3641|COHD:81250|ICD10:D05.9 A in situ carcinoma that involves the breast. DOID:8791|NCIT:C3641|UMLS:C0154084|SNOMEDCT:189336000 http://purl.obolibrary.org/obo/MONDO_0004658 carcinoma in situ of breast|non-invasive carcinoma of breast|breast in situ carcinoma|non-invasive carcinoma of the breast|stage 0 breast cancer aJCC v7|stage 0 breast cancer aJCC v6|non-invasive breast carcinoma|carcinoma in situ of the breast|non-infiltrating carcinoma of breast|breast cancer in situ|in situ breast cancer|stage 0 carcinoma of breast|stage 0 breast cancer aJCC v6 and v7|stage 0 carcinoma of the breast|stage 0 breast cancer|breast cancer stage 0|non-infiltrating carcinoma of the breast|stage 0 breast carcinoma in situ|stage 0 breast carcinoma|non-infiltrating breast carcinoma|breast carcinoma in situ MONDO:0004657 disseminated chorioretinitis biolink:Disease mondo SCTID:78769001|UMLS:C0154879|ICD9:363.10|DOID:8787|COHD:433762|ICD10:H30.10|ICD9:363.1|ICD10:H30.1 DOID:8787|SNOMEDCT:78769001|UMLS:C0154879 http://purl.obolibrary.org/obo/MONDO_0004657 MONDO:0004659 eye carcinoma in situ biolink:Disease mondo DOID:8792|ICD10:D09.2|SCTID:92590009|ICD9:234.0|COHD:373732|UMLS:C0154094 A carcinoma in situ involving a eye. DOID:8792|UMLS:C0154094|SNOMEDCT:92590009 http://purl.obolibrary.org/obo/MONDO_0004659 carcinoma in situ of eye|eye in situ carcinoma|stage 0 eyeball of camera-type eye carcinoma|carcinoma in situ of eyeball of camera-type eye|eyeball of camera-type eye carcinoma in situ|stage 0 eye carcinoma MONDO:0004654 obsolete pyomyositis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004654 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative biolink:Disease mondo DOID:8747|SCTID:277589003|NCIT:C3519|COHD:135499|ICDO:9876/3 A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001) SNOMEDCT:277589003|DOID:8747|NCIT:C3519 http://purl.obolibrary.org/obo/MONDO_0004653 subacute myeloid leukemia|atypical chronic myeloid leukemia|subacute myelogenous leukemia|aCML|atypical CML|atypical chronic myeloid leukemia, BCR-ABL1 Negative|subacute granulocytic leukemia MONDO:0004656 rubella biolink:Disease mondo EFO:1002026|SCTID:36653000|ICD10:B06|GARD:0004742|NCIT:C85051|ICD9:056|UMLS:C0035920|MESH:D012409|ICD10:B06.9|DOID:8781 A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. SNOMEDCT:36653000|MESH:D012409|NCIT:C85051|UMLS:C0035920|DOID:8781 http://purl.obolibrary.org/obo/MONDO_0004656 three day measles|Rubella virus disease or disorder|Rubella virus infectious disease|Rubella virus caused disease or disorder|german measles|Rubella infection|three-Day Measles gard_rare MONDO:0004655 obsolete acute megakaryoblastic leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004655 MONDO:0004650 malignant carotid body paraganglioma biolink:Disease mondo ICD10:C75.4|ICD9:194.5|DOID:8731|COHD:40487047|UMLS:C0153656|SCTID:447883002|NCIT:C3574 A carotid body paraganglioma that metastasizes to other anatomic sites. DOID:8731|UMLS:C0153656|NCIT:C3574|SNOMEDCT:447883002 http://purl.obolibrary.org/obo/MONDO_0004650 chemodectoma, malignant|carotid body cancer|malignant carotid body neoplasm|malignant tumor of carotid body|malignant tumor of the carotid body|carotid body paraganglioma, malignant|malignant carotid body paraganglioma|malignant neoplasm of carotid body|malignant neoplasm of the carotid body|cancer of carotid body|malignant carotid body tumor (morphologic abnormality)|malignant carotid body tumor MONDO:0004652 bacterial pneumonia biolink:Disease mondo ICD9:482.9|COHD:257315|UMLS:C0004626|MESH:D018410|DOID:874|EFO:1001272|SCTID:53084003|ICD10:J15.9|NCIT:C26704|ICD9:482.89 Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. DOID:874|MESH:D018410|NCIT:C26704|SNOMEDCT:53084003|UMLS:C0004626 http://purl.obolibrary.org/obo/MONDO_0004652 gram-negative pneumonia|Bacteria caused pneumonia|Bacteria pneumonia|pneumonia due to other gram-negative bacteria MONDO:0004651 smallpox biolink:Disease mondo SCTID:67924001|DOID:8736|MESH:D012899|ICD9:050.9|ICD9:050|NCIT:C35027|GARD:0007444|UMLS:C0037354|ICD10:B03 A condition that is caused by infection with Variola, and that is characterized by small, raised bumps. UMLS:C0037354|MESH:D012899|DOID:8736|NCIT:C35027|SNOMEDCT:67924001 http://purl.obolibrary.org/obo/MONDO_0004651 variola virus VAR infection|Variola|ordinary smallpox|variola virus infection|smallpox virus infection|Variola virus disease or disorder|Variola virus infectious disease|Variola virus caused disease or disorder gard_rare GO:0047598 7-dehydrocholesterol reductase activity biolink:OntologyClass mondo Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. http://purl.obolibrary.org/obo/GO_0047598 sterol Delta(7)-reductase activity|cholesterol:NADP+ delta7-oxidoreductase activity|sterol delta7-reductase activity|7-DHC reductase activity UBERON:0037447 wall of male urethra biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0037447 male urethral wall MONDO:0016647 autosomal recessive Stickler syndrome biolink:Disease mondo Orphanet:250984|UMLS:CN201875|ICD10:Q87.5 A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed. UMLS:CN201875|ORPHA:250984 http://purl.obolibrary.org/obo/MONDO_0016647 Stickler syndrome, autosomal recessive ordo_clinical_subtype MONDO:0016648 multiple epiphyseal dysplasia (disease) biolink:Disease mondo Orphanet:251|OMIMPS:132400|COHD:434161|ICD10:Q77.3|DOID:12721|HP:0002654|SCTID:59708000|MedDRA:10028197|GARD:0010756|ICD9:756.56 Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6. SNOMEDCT:59708000|UMLS:C0026760|ORPHA:251|MEDDRA:10028197|DOID:12721 http://purl.obolibrary.org/obo/MONDO_0016648 EDM|polyepiphyseal dysplasia|epiphyseal dysplasia, multiple|MED|multiple epiphyseal dysplasia|Polyepiphyseal dysplasia ordo_group_of_disorders MONDO:0016649 Warburg micro syndrome biolink:Disease mondo ICD10:Q87.0|DOID:0060237|GARD:0005534|UMLS:CN158709|OMIMPS:600118|Orphanet:2510 Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. ORPHA:2510|UMLS:C1838625|UMLS:CN158709|DOID:0060237 http://purl.obolibrary.org/obo/MONDO_0016649 Warburg-Sjo-Fledelius syndrome|microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism|Warburg micro syndrome|WARBM|microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism|micro syndrome ordo_malformation_syndrome MONDO:0016643 frontonasal dysplasia biolink:Disease mondo OMIMPS:136760|SCTID:86610004|NCIT:C129028|DC:0000166|GARD:0002392|UMLS:C1876203|MESH:C538065|ICD10:Q75.8|Orphanet:250 Frontonasal dysplasia caused by mutations in the ALX3 gene, encoding homeobox protein aristaless-like 3. It is inherited in an autosomal recessive fashion. NCIT:C129028|ORPHA:250|UMLS:C0432106|SNOMEDCT:86610004|UMLS:C1876203|MESH:C538065 http://purl.obolibrary.org/obo/MONDO_0016643 median cleft face syndrome|median cleft syndrome|FND1|frontonasal dysplasia 1 ordo_group_of_disorders MONDO:0016644 logopenic progressive aphasia biolink:Disease mondo SCTID:716380002|ICD10:G31.0|GARD:0010791|Orphanet:250831|UMLS:C4049711 Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. SNOMEDCT:716380002|UMLS:C4049711|ORPHA:250831 http://purl.obolibrary.org/obo/MONDO_0016644 Logopenic variant PPA|LPA|Logopenic primary progressive aphasia gard_rare|ordo_disease NCBITaxon:1338369 Dipnotetrapodomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1338369 MONDO:0016645 obsolete rare neoplastic disease biolink:Disease mondo Orphanet:250908|UMLS:CN201870 Either a rare isolated neoplasm or a syndrome with neoplasm as a major feature. UMLS:CN201870|ORPHA:250908 http://purl.obolibrary.org/obo/MONDO_0016645 rare neoplasm|rare tumoral disease|rare neoplasm (disease)|rare neoplastic disease|rare neoplastic disease or syndrome ordo_group_of_disorders|obsoletion_candidate MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy biolink:Disease mondo UMLS:CN201872|Orphanet:250932|ICD10:H47.2 Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. UMLS:CN201872|ORPHA:250932 http://purl.obolibrary.org/obo/MONDO_0016646 ordo_disease MONDO:0016640 fibrous dysplasia of bone biolink:Disease mondo ICD10:Q78.1|SCTID:10623005|MedDRA:10016664|GARD:0006444|Orphanet:249|MESH:D005357|ICD9:733.29 Fibrous dysplasia of bone is a congenital non-hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis. ORPHA:249|MEDDRA:10016664|MESH:D005357|UMLS:C0016063|SNOMEDCT:10623005 http://purl.obolibrary.org/obo/MONDO_0016640 ordo_malformation_syndrome MONDO:0016641 limb transversal defect-cardiac anomaly syndrome biolink:Disease mondo MESH:C535856|ICD10:Q87.2|Orphanet:2492|UMLS:C2931047 MESH:C535856|UMLS:C2931047|ORPHA:2492 http://purl.obolibrary.org/obo/MONDO_0016641 Hecht-Scott syndrome ordo_malformation_syndrome MONDO:0016642 meningioma (disease) biolink:Disease mondo HP:0002858|DOID:3565|ONCOTREE:MNG|GARD:0007015|ICD10:D32.9|UMLS:C0025286|ICDO:9530/0|SCTID:302820008|Orphanet:2495|MESH:D008579|MedDRA:10027191|NCIT:C3230 A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO) ORPHA:2495|UMLS:C0025286|MESH:D008579|SNOMEDCT:302820008|DOID:3565|MEDDRA:10027191|NCIT:C3230 http://purl.obolibrary.org/obo/MONDO_0016642 meningothelial cell tumor|supratentorial meningioma|neoplasm of the meninges|primary meningeal tumor|meningeal neoplasm|intracranial meningioma|meningioma, NOS|meningioma ordo_disease HGNC:8079 FRMD7 biolink:OntologyClass mondo http://identifiers.org/hgnc/8079 MONDO:0004669 salivary gland cancer biolink:Disease mondo ICD10:C08|ICD9:142.8|DOID:8850|NCIT:C3811|SCTID:255072001|MESH:D012468|COHD:4181333 A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. NCIT:C3811|MESH:D012468|SNOMEDCT:255072001|DOID:8850 http://purl.obolibrary.org/obo/MONDO_0004669 malignant neoplasm of salivary gland|malignant neoplasm of the salivary gland|malignant salivary gland tumor|saliva-secreting gland cancer|malignant saliva-secreting gland neoplasm|cancer of saliva-secreting gland|cancer of salivary gland|malignant salivary gland neoplasm|cancer of the salivary gland|malignant tumor of the Major salivary gland|malignant neoplasm of major salivary gland|malignant tumor of salivary gland|malignant tumor of the salivary gland|malignant neoplasm of saliva-secreting gland|salivary gland cancer|malignant neoplasm of salivary gland duct MONDO:0002006 serous labyrinthitis biolink:Disease mondo ICD9:386.31|UMLS:C0155504|DOID:1467|SCTID:41674001 A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. SNOMEDCT:41674001|UMLS:C0155504|DOID:1467 http://purl.obolibrary.org/obo/MONDO_0002006 acute serous labyrinthitis SO:0000011 non_protein_coding biolink:SequenceFeature mondo A gene which can be transcribed, but will not be translated into a protein. http://purl.obolibrary.org/obo/SO_0000011 non protein-coding MONDO:0004668 fascioliasis biolink:Disease mondo EFO:1001324|UMLS:C0015652|ICD10:B66.3|GARD:0006428|MESH:D005211|NCIT:C128387|SCTID:82308007|ICD9:121.3|DOID:885|UMLS:C1331532 A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction. UMLS:C0015652|NCIT:C128387|UMLS:C1331532|DOID:885|MESH:D005211|SNOMEDCT:82308007 http://purl.obolibrary.org/obo/MONDO_0004668 infection by fasciola|fasciola hepatica infection|sheep liver fluke infection|liver flukes NOS|Fasciolosis|liver flukes gard_rare SO:0000010 protein_coding biolink:SequenceFeature mondo A gene which, when transcribed, can be translated into a protein. http://purl.obolibrary.org/obo/SO_0000010 protein-coding MONDO:0002007 obsolete VACTERL association biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002007 MONDO:0002008 labyrinthitis biolink:Disease mondo MESH:D007762|ICD9:386.3|ICD9:386.30|DOID:1468|SCTID:23919004|NCIT:C128369|DOID:3930|ICD10:H83.09|UMLS:C0022893|COHD:74052|ICD10:H83.0 Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. NCIT:C128369|MESH:D007762|DOID:3930|DOID:1468|UMLS:C0022893|SNOMEDCT:23919004 http://purl.obolibrary.org/obo/MONDO_0002008 internal ear inflammation|inflammation of internal ear|inner ear infection|otitis interna MONDO:0002009 major depressive disorder biolink:Disease mondo MFOMD:0000143|MESH:D003865|ICD10:F32|ICD10:F33.9|ICD10:F32.9|ICD9:296.3|SCTID:370143000|DOID:1470|ICD9:296.2|ICD9:296.20|ICD9:296.30|ICD10:F33 An episode of depression lasting two or more weeks without an intervening episode of mania. MESH:D003865|NCIT:C34796|DOID:1470|SNOMEDCT:370143000 http://purl.obolibrary.org/obo/MONDO_0002009 single major depressive episode|recurrent major depression MONDO:0002002 postsurgical hypothyroidism biolink:Disease mondo SCTID:27059002|UMLS:C0154157|ICD10:E89.0|ICD9:244.0|DOID:1458 UMLS:C0154157|DOID:1458|SNOMEDCT:27059002 http://purl.obolibrary.org/obo/MONDO_0002002 postoperative hypothyroidism|post-surgical hypothyroidism MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma biolink:Disease mondo SCTID:118608000|COHD:4038842|ONCOTREE:NSCHL|EFO:0004708|ICD9:201.5|NCIT:C3518|ICD10:C81.1|DOID:8838|ICDO:9663/3 A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008) SNOMEDCT:118608000|DOID:8838|NCIT:C3518 http://purl.obolibrary.org/obo/MONDO_0004665 Hodgkin's disease, nodular sclerosis of unspecified site|Hodgkin lymphoma, nodular sclerosis|nodular sclerosis Classic Hodgkin lymphoma|nodular sclerosis Hodgkin's disease|Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)|classical Hodgkin lymphoma, nodular sclerosis|NSCHL|NSHD|Hodgkin's lymphoma, nodular sclerosis|NSHL|Hodgkin's disease nodular sclerosis|nodular sclerosis Hodgkin lymphoma|nodular sclerosis Hodgkin's lymphoma|nodular sclerosis classical Hodgkin lymphoma|Hodgkin's disease, nodular sclerosis|Hodgkin's disease nodular sclerosis NOS|Hodgkin's nodular sclerosis MONDO:0028618 gastroenteric neuroendocrine neoplasm biolink:Disease mondo Orphanet:481508 ORPHA:481508 http://purl.obolibrary.org/obo/MONDO_0028618 ordo_group_of_disorders MONDO:0004664 helminthiasis biolink:Disease mondo ICD9:120-129.99|ICD9:128.8|EFO:1001342|ICD9:128.9|UMLS:C0018889|COHD:441793|GARD:0006578|ICD10:B83.9|DOID:883|MESH:D006373|ICD10:B65.B83|SCTID:27601005|NCIT:C84751|ICD10:B65-B83 A parasitic infection characterized by the infestation with worms, mainly in the intestine. DOID:883|SNOMEDCT:27601005|MESH:D006373|UMLS:C0018889|NCIT:C84751 http://purl.obolibrary.org/obo/MONDO_0004664 parasitic helminthiasis infectious disease|helminthiasis|helminth infection|helminthosis|worm infection MONDO:0002003 papilledema biolink:Disease mondo ICD9:377.31|ICD10:H47.1|GARD:0007318|ICD10:H46.0|ICD9:377.0|ICD9:377.00|SCTID:423341008|DOID:146|ICD10:H47.10|NCIT:C3307 Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor. DOID:146|SNOMEDCT:423341008|NCIT:C3307 http://purl.obolibrary.org/obo/MONDO_0002003 edema of the optic disc|papilloedema|Choked disk gard_rare HGNC:8082 NYX biolink:OntologyClass mondo http://identifiers.org/hgnc/8082 MONDO:0004667 sublingual gland cancer biolink:Disease mondo DOID:8849|NCIT:C3527|SCTID:363381003|UMLS:C0153361|ICD10:C08.1|ICD9:142.2 A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas. UMLS:C0153361|DOID:8849|SNOMEDCT:363381003|NCIT:C3527 http://purl.obolibrary.org/obo/MONDO_0004667 malignant neoplasm of sublingual gland|cancer of sublingual gland|malignant neoplasm of the sublingual gland|malignant sublingual gland tumor|malignant sublingual gland neoplasm|sublingual gland cancer|malignant tumor of the sublingual gland|malignant tumor of sublingual gland MONDO:0002004 atheroembolism of kidney biolink:Disease mondo ICD10:I75.81|DOID:1460 A cholesterol embolism that involves the kidney. DOID:1460 http://purl.obolibrary.org/obo/MONDO_0002004 cholesterol embolism of kidney|kidney cholesterol embolism MONDO:0002005 obsolete acrodysostosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002005 MONDO:0004666 metagonimiasis biolink:Disease mondo ICD9:121.5|ICD10:B66.8|GARD:0009745|UMLS:C0025530|DOID:884|NCIT:C128390|SCTID:37832003 An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. NCIT:C128390|UMLS:C0025530|DOID:884|SNOMEDCT:37832003 http://purl.obolibrary.org/obo/MONDO_0004666 Metagonimus yokogawai infection|infection by Metagonimus yokogawai|infections, Metagonimus yokogawai gard_rare UBERON:0037455 wall of female urethra biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0037455 female urethral wall MONDO:0004661 trachea carcinoma in situ biolink:Disease mondo DOID:8802|UMLS:C0154070|ICD9:231.1|ICD10:D02.1|SCTID:92772005|COHD:439772|NCIT:C3639 A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion. SNOMEDCT:92772005|UMLS:C0154070|DOID:8802|NCIT:C3639 http://purl.obolibrary.org/obo/MONDO_0004661 severe epithelial dysplasia of trachea|carcinoma in situ of the trachea|stage 0 trachea carcinoma|trachea in situ carcinoma|tracheal carcinoma in situ|trachea carcinoma in situ|carcinoma in situ of trachea MONDO:0004660 lung carcinoma in situ biolink:Disease mondo DOID:8800|ICD10:D02.2|ICD9:231.2|UMLS:C0685053|SCTID:92649001|NCIT:C27467 A carcinoma in situ involving a lung. UMLS:C0685053|SNOMEDCT:92649001|NCIT:C27467|DOID:8800 http://purl.obolibrary.org/obo/MONDO_0004660 stage 0 lung cancer aJCC v7|stage 0 lung cancer aJCC v6|stage 0 lung carcinoma|bronchial carcinoma in situ|lung in situ carcinoma|stage 0 lung cancer|carcinoma in situ of lung|stage 0 lung cancer aJCC v6 and v7 MONDO:0004663 colon carcinoma in situ biolink:Disease mondo DOID:8826|COHD:75512|UMLS:C0154061|SCTID:92568009|ICD9:230.3|ICD10:D01.0|NCIT:C3638 A in situ carcinoma that involves the colon. UMLS:C0154061|SNOMEDCT:92568009|DOID:8826|NCIT:C3638 http://purl.obolibrary.org/obo/MONDO_0004663 colon carcinoma in situ|stage 0 colon cancer aJCC v6 and v7|colon cancer stage 0|stage 0 colon carcinoma|carcinoma in situ of colon|stage 0 colon cancer aJCC v7|stage 0 colon cancer aJCC v6|stage 0 carcinoma of the colon|colonic carcinoma in situ|stage 0 carcinoma of colon|stage 0 colonic carcinoma|carcinoma in situ of the colon|colon in situ carcinoma|stage 0 colon cancer MONDO:0002000 anaerobic meningitis biolink:Disease mondo UMLS:C0854214|DOID:14559|SCTID:445059005|ICD9:320.81 DOID:14559|UMLS:C0854214|SNOMEDCT:445059005 http://purl.obolibrary.org/obo/MONDO_0002000 meningitis due to anaerobic bacteria|meningitis caused by anaerobic bacteria MONDO:0004662 heterophyiasis biolink:Disease mondo UMLS:C0152071|NCIT:C128389|ICD10:B66.8|SCTID:22905009|DOID:882|ICD9:121.6 An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. NCIT:C128389|DOID:882|SNOMEDCT:22905009|UMLS:C0152071 http://purl.obolibrary.org/obo/MONDO_0004662 infections, Heterophyes|Heterophyes infection|Heterophyes infectious disease MONDO:0002001 obsolete disease of cellular proliferation biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0002001 MONDO:0016629 hemorrhagic disorder due to a platelet anomaly biolink:Disease mondo UMLS:CN236380|Orphanet:248326 UMLS:CN236380|ORPHA:248326 http://purl.obolibrary.org/obo/MONDO_0016629 rare coagulopathy due to a platelet anomaly|rare coagulopathy due to a thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a platelet anomaly|rare bleeding disorder due to a thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia obsoletion_candidate|ordo_group_of_disorders GO:0060561 apoptotic process involved in morphogenesis biolink:OntologyClass mondo Any apoptotic process that contributes to the shaping of an anatomical structure. http://purl.obolibrary.org/obo/GO_0060561 apoptosis involved in development|apoptosis involved in morphogenesis|morphogenetic apoptosis GO:0060562 epithelial tube morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/GO_0060562 MONDO:0016636 thrombotic disorder due to a constitutional platelet anomaly biolink:Disease mondo UMLS:CN226986|Orphanet:248401 UMLS:CN226986|ORPHA:248401 http://purl.obolibrary.org/obo/MONDO_0016636 obsoletion_candidate|ordo_group_of_disorders MONDO:0016637 thrombotic disorder due to an acquired platelet anomaly biolink:Disease mondo UMLS:CN226987|Orphanet:248404 UMLS:CN226987|ORPHA:248404 http://purl.obolibrary.org/obo/MONDO_0016637 obsoletion_candidate|ordo_group_of_disorders MONDO:0016638 familial hypodysfibrinogenemia biolink:Disease mondo Orphanet:248408|UMLS:CN201839|ICD10:D68.2 UMLS:CN201839|ORPHA:248408 http://purl.obolibrary.org/obo/MONDO_0016638 ordo_clinical_subtype MONDO:0016639 lower limb deficiency-hypospadias syndrome biolink:Disease mondo Orphanet:2487|MESH:C535640|UMLS:C2930962 Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. UMLS:C2930962|ORPHA:2487|MESH:C535640 http://purl.obolibrary.org/obo/MONDO_0016639 Fried-Goldberg-Mundel syndrome|lower limb malformation-hypospadias syndrome ordo_malformation_syndrome MONDO:0016632 thrombotic disorder due to a coagulation factors defect biolink:Disease mondo Orphanet:248358|UMLS:CN226982 UMLS:CN226982|ORPHA:248358 http://purl.obolibrary.org/obo/MONDO_0016632 ordo_group_of_disorders|obsoletion_candidate MONDO:0016633 thrombotic disorder due to a constitutional coagulation factors defect biolink:Disease mondo Orphanet:248361|UMLS:CN226983 UMLS:CN226983|ORPHA:248361 http://purl.obolibrary.org/obo/MONDO_0016633 obsoletion_candidate|ordo_group_of_disorders MONDO:0016634 thrombotic disorder due to an acquired coagulation factors defect biolink:Disease mondo UMLS:CN226984|Orphanet:248365 An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual. UMLS:CN226984|ORPHA:248365 http://purl.obolibrary.org/obo/MONDO_0016634 acquired rare thrombotic disorder due to a coagulation factors defect obsoletion_candidate|ordo_group_of_disorders MONDO:0016635 thrombotic disorder due to a platelet anomaly biolink:Disease mondo UMLS:CN226985|Orphanet:248368 UMLS:CN226985|ORPHA:248368 http://purl.obolibrary.org/obo/MONDO_0016635 ordo_group_of_disorders|obsoletion_candidate HGNC:8086 OAS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8086 MONDO:0016630 isolated delta-storage pool disease biolink:Disease mondo UMLS:CN201837|ICD10:D69.1|Orphanet:248340 Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery. UMLS:CN201837|ORPHA:248340 http://purl.obolibrary.org/obo/MONDO_0016630 isolated delta-SPD|isolated dense-storage pool disease|isolated dense-SPD ordo_disease MONDO:0016631 hemorrhagic disorder due to an acquired platelet anomaly biolink:Disease mondo Orphanet:248347|UMLS:CN226981 A hemorrhagic disorder due to a platelet anomaly which develops after birth. UMLS:CN226981|ORPHA:248347 http://purl.obolibrary.org/obo/MONDO_0016631 rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia|rare coagulopathy due to an acquired platelet anomaly|rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia|rare bleeding disorder due to an acquired platelet anomaly|rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia ordo_group_of_disorders|obsoletion_candidate UBERON:0003728 mediastinum biolink:AnatomicalEntity mondo The central part of the thoracic cavity enclosed by the left and right pleurae. http://purl.obolibrary.org/obo/UBERON_0003728 mediastinal part of chest UBERON:0003729 mouth mucosa biolink:AnatomicalEntity mondo A mucous membrane that lines the mouth. http://purl.obolibrary.org/obo/UBERON_0003729 tunica mucosa oris|oral mucosa|oral mucous membrane|buccal mucosa|mucous membrane of mouth|mucosa of mouth|mouth mucosa|oral part of viscerocranial mucosa|mouth organ mucosa|mouth mucous membrane|tunica mucosa oris|mucosal lining of mouth UBERON:0003726 thoracic nerve biolink:AnatomicalEntity mondo The twelve spinal nerves on each side of the thorax. They include eleven INTERCOSTAL NERVES and one subcostal nerve. Both sensory and motor, they supply the muscles and skin of the thoracic and abdominal walls. http://purl.obolibrary.org/obo/UBERON_0003726 nervi thoracici|nervus thoracis|pectoral nerve|thoracic spinal nerve UBERON:0003727 intercostal nerve biolink:AnatomicalEntity mondo The intercostal nerves are the anterior divisions (rami anteriores; ventral divisions) of the thoracic spinal nerves from T1 to T11. Each nerve is connected with the adjoining ganglion of the sympathetic trunk by a gray and a white ramus communicans. The intercostal nerves are distributed chiefly to the thoracic pleura and abdominal peritoneum and differ from the anterior divisions of the other spinal nerves in that each pursues an independent course without plexus formation. The first two nerves supply fibers to the upper limb in addition to their thoracic branches; the next four are limited in their distribution to the parietes of the thorax; the lower five supply the parietes of the thorax and abdomen. The 7th intercostal nerve terminates at the xyphoid process, at the lower end of the sternum. The 10th intercostal nerve terminates at the umbilicus. The twelfth thoracic is distributed to the abdominal wall and groin. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0003727 nervi intercostales|anterior ramus of thoracic nerve|ramus anterior, nervus thoracicus|anterior ramus of thoracic spinal nerve|ventral ramus of thoracic spinal nerve|thoracic anterior ramus UBERON:0003724 musculocutaneous nerve biolink:AnatomicalEntity mondo a large branch of the brachial plexus supplying various parts of the upper arm (as flexor muscles) and forearm (as the skin). http://purl.obolibrary.org/obo/UBERON_0003724 nervus musculocutaneus|casserio's nerve UBERON:0003725 cervical nerve plexus biolink:AnatomicalEntity mondo An arrangement of nerve fibers, running from the spine that travels to the head and neck where it innervates skin and muscle. http://purl.obolibrary.org/obo/UBERON_0003725 cervical nerve plexus|plexus cervicalis|plexus cervicalis|cervical plexus CHEBI:36586 carbonyl compound biolink:ChemicalSubstance mondo Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compounds CHEBI:36587 organic oxo compound biolink:ChemicalSubstance mondo Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element. http://purl.obolibrary.org/obo/CHEBI_36587 organic oxo compounds|oxo compounds UBERON:0003715 splanchnic nerve biolink:AnatomicalEntity mondo The major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia. http://purl.obolibrary.org/obo/UBERON_0003715 visceral nerve|splanchnic nerves UBERON:0003716 recurrent laryngeal nerve biolink:AnatomicalEntity mondo A branch of the vagus nerve that supplies motor function and sensation to the larynx (voice box). It travels within the endoneurium. It is the nerve of the 6th Branchial Arch. http://purl.obolibrary.org/obo/UBERON_0003716 inferior laryngeal nerve|ramus recurrens|nervus laryngeus recurrens|recurrent nerve|vagus X nerve recurrent laryngeal branch|recurrent laryngeal nerve from vagus nerve UBERON:0003713 splenic vein biolink:AnatomicalEntity mondo A vein arising from the splenic trabecular vein in the hilum of the spleen that drains into the portal vein. http://purl.obolibrary.org/obo/UBERON_0003713 lienal vein|vena splenica|vena lienalis UBERON:0003714 neural tissue biolink:AnatomicalEntity mondo Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. http://purl.obolibrary.org/obo/UBERON_0003714 nerve tissue|portion of neural tissue|nervous tissue CHEBI:48560 dopaminergic agent biolink:ChemicalSubstance mondo A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons. http://purl.obolibrary.org/obo/CHEBI_48560 dopaminergic agents|dopamine agents|dopamine agent|dopamine drugs|dopamine drug CHEBI:131604 Mycoplasma genitalium metabolite biolink:ChemicalSubstance mondo Any bacterial metabolite produced during a metabolic reaction in Mycoplasma genitalium. http://purl.obolibrary.org/obo/CHEBI_131604 Mycoplasma genitalium metabolites GO:0047708 biotinidase activity biolink:OntologyClass mondo Catalysis of the reaction: biotin amide + H2O = biotin + NH3. http://purl.obolibrary.org/obo/GO_0047708 amidohydrolase biotinidase activity|biotin-amide amidohydrolase activity UBERON:0003722 middle cranial fossa biolink:AnatomicalEntity mondo The compartment containing the anterior extremities and half the inferior surface of the temporal lobes (TEMPORAL LOBE) of the cerebral hemispheres. Lying posterior and inferior to the anterior cranial fossa (CRANIAL FOSSA, ANTERIOR), it is formed by part of the TEMPORAL BONE and SPHENOID BONE. It is separated from the posterior cranial fossa (CRANIAL FOSSA, POSTERIOR) by crests formed by the superior borders of the petrous parts of the temporal bones[MESH]. The middle fossa, deeper than the anterior cranial fossa, is narrow medially and widens laterally to the sides of the skull. It is separated from the posterior fossa by the clivus and the petrous crest. It is bounded in front by the posterior margins of the lesser wings of the sphenoid bone, the anterior clinoid processes, and the ridge forming the anterior margin of the chiasmatic groove; behind, by the superior angles of the petrous portions of the temporal bones and the dorsum sellC&; laterally by the temporal squamC&, sphenoidal angles of the parietals, and greater wings of the sphenoid. It is traversed by the squamosal, sphenoparietal, sphenosquamosal, and sphenopetrosal sutures[WP]. http://purl.obolibrary.org/obo/UBERON_0003722 fossa cranii media|middle fossa UBERON:0003723 vestibular nerve biolink:AnatomicalEntity mondo The vestibular nerve is one of the two branches of the Vestibulocochlear nerve (the cochlear nerve being the other). It goes to the semicircular canals via the vestibular ganglion. It receives positional information. Axons of the vestibular nerve synapse in the vestibular nucleus on the lateral floor and wall of the fourth ventricle in the pons and medulla. It arises from bipolar cells in the vestibular ganglion, ganglion of Scarpa, which is situated in the upper part of the outer end of the internal auditory meatus. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0003723 nervus vestibularis|scarpa's ganglion|vestibulocochlear VIII nerve vestibular component|scarpas ganglion|scarpa ganglion|vestibular root of acoustic nerve|vestibular root of eighth cranial nerve|vestibulocochlear nerve vestibular root UBERON:0003720 anterior cranial fossa biolink:AnatomicalEntity mondo The floor of the anterior fossa is formed by the orbital plates of the frontal, the cribriform plate of the ethmoid, and the small wings and front part of the body of the sphenoid; it is limited behind by the posterior borders of the small wings of the sphenoid and by the anterior margin of the chiasmatic groove. The lesser wings of the sphenoid separate the anterior and middle fossae. http://purl.obolibrary.org/obo/UBERON_0003720 anterior fossa|fossa cranii anterior UBERON:0003721 lingual nerve biolink:AnatomicalEntity mondo The lingual nerve is a branch of the mandibular nerve (CN V3), itself a branch of the trigeminal nerve, which supplies sensory innervation to the tongue. It also carries fibers from the facial nerve, which return taste information from the anterior two thirds of the tongue. http://purl.obolibrary.org/obo/UBERON_0003721 trigeminal nerve lingual branch|trigeminal V nerve lingual branch|lingual branch of trigeminal nerve UBERON:0003709 circle of Willis biolink:AnatomicalEntity mondo A circle of arteries that supply blood to the brain. The Circle of Willis comprises the following arteries: Anterior cerebral artery (left and right); Anterior communicating artery; Internal carotid artery (left and right); Posterior cerebral artery (left and right); Posterior communicating artery (left and right).The basilar artery and middle cerebral arteries, supplying the brain, are also considered part of the circle http://purl.obolibrary.org/obo/UBERON_0003709 arterial circle|arterial circle of Willis|Willis circle|circulus arteriosus cerebri|cerebral arterial circle UBERON:0003706 laryngeal vocal fold biolink:AnatomicalEntity mondo Either of two pairs of folds of mucous membrane projecting into the larynx. http://purl.obolibrary.org/obo/UBERON_0003706 vocal chord|vocal band|true vocal cord|vocal cord|vocal fold|plica vocalis UBERON:0003707 sinus of Valsalva biolink:AnatomicalEntity mondo one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. http://purl.obolibrary.org/obo/UBERON_0003707 sinus aorta|sinus of Morgagni|aortic sinus|Petit sinus|Valsalva sinus|Petit's sinus|sinus of Otto|sinus aortae UBERON:0003704 intrahepatic bile duct biolink:AnatomicalEntity mondo Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. http://purl.obolibrary.org/obo/UBERON_0003704 bile duct intrahepatic part|intrahepatic biliary system UBERON:0003705 Meckel's diverticulum biolink:AnatomicalEntity mondo A small bulge in the small intestine present at birth. It is a vestigial remnant of the omphalomesenteric duct http://purl.obolibrary.org/obo/UBERON_0003705 meckel diverticulum|ileal diverticulum|diverticulum of Meckel|Meckels diverticulum|Meckel's diverticulum UBERON:0003703 extrahepatic bile duct biolink:AnatomicalEntity mondo Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. http://purl.obolibrary.org/obo/UBERON_0003703 bile duct extrahepatic part|extrahepatic biliary system UBERON:0003711 brachiocephalic vein biolink:AnatomicalEntity mondo The left and right brachiocephalic veins in the upper chest are formed by the union of each corresponding internal jugular vein and subclavian vein. This is at the level of the sternoclavicular joint. These great vessels merge to form the superior vena cava. The brachiocephalic veins are the major veins returning blood to the superior vena cava. http://purl.obolibrary.org/obo/UBERON_0003711 innomiate vein|venae anonyma|vena brachiocephalica|innominate vein|brachiocephalic venous tree|innominate vein|innominate trunk|innominate veins UBERON:0003712 cavernous sinus biolink:AnatomicalEntity mondo The cavernous sinus (or lateral sellar compartment), within the human head, is a large collection of thin-walled veins creating a cavity bordered by the temporal bone of the skull and the sphenoid bone, lateral to the sella turcica. http://purl.obolibrary.org/obo/UBERON_0003712 sinus cavernosus|cavernous|parasellar syndrome|cavernous sinuses|cavernus sinus vein|cavernous sinus syndrome NCBITaxon:189359 Xylariales incertae sedis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_189359 UBERON:0003701 calcaneal tendon biolink:AnatomicalEntity mondo The Achilles tendon is a tendon of the posterior leg. It serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone. http://purl.obolibrary.org/obo/UBERON_0003701 Achilles' tendon|tendo calcaneus|Achille's tendon|calcaneal tendon|Achilles tendon|tendo Achillis UBERON:0015757 heterogeneous tissue biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0015757 portion of heterogeneous tissue HGNC:34 ABCA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/34 HGNC:33 ABCA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/33 UBERON:0015751 inferior tarsal muscle biolink:AnatomicalEntity mondo A smooth muscle tissue that is part of a inferior eyelid tarsus. http://purl.obolibrary.org/obo/UBERON_0015751 HGNC:37 ABCA7 biolink:OntologyClass mondo http://identifiers.org/hgnc/37 HGNC:29 ABCA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29 UBERON:0001114 right lobe of liver biolink:AnatomicalEntity mondo The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001114 right hepatic lobe|liver right lobe|right liver lobe|gall bladder lobe|lobus hepaticus dexter|second lobe|2nd lobe|lobus hepatis dexter UBERON:0001113 lobe of liver biolink:AnatomicalEntity mondo Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. http://purl.obolibrary.org/obo/UBERON_0001113 hepatic lobe|liver lobe|lobus hepatis UBERON:0001115 left lobe of liver biolink:AnatomicalEntity mondo The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001115 liver left lobe|lobus hepaticus sinister|lobus hepatis sinister|left hepatic lobe|left liver lobe HGNC:40 ABCB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/40 HGNC:43 TAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/43 HGNC:42 ABCB11 biolink:OntologyClass mondo http://identifiers.org/hgnc/42 HGNC:45 ABCB4 biolink:OntologyClass mondo http://identifiers.org/hgnc/45 HGNC:44 TAP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/44 HGNC:47 ABCB6 biolink:OntologyClass mondo http://identifiers.org/hgnc/47 HGNC:48 ABCB7 biolink:OntologyClass mondo http://identifiers.org/hgnc/48 UBERON:0001103 diaphragm biolink:AnatomicalEntity mondo A thin musculomebranous barrier that separates the abdominal and thoracic cavities. Often used for breathing control http://purl.obolibrary.org/obo/UBERON_0001103 diaphragm muscle|diaphragm of thorax|phren|thoracic diaphragm|midriff UBERON:0001102 cartilage of main bronchus biolink:AnatomicalEntity mondo A cartilage that is part of a main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001102 bronchus principalis cartilage|main bronchus cartilage|cartilage of primary bronchus|main bronchial cartilage|principal bronchus cartilage|cartilaginous ring of main bronchus|cartilage of bronchus principalis|primary bronchus cartilage|cartilage of principal bronchus CHEBI:36527 glycosylsphingoid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36527 HGNC:20 AARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20 HGNC:23 ABAT biolink:OntologyClass mondo http://identifiers.org/hgnc/23 HGNC:19 AANAT biolink:OntologyClass mondo http://identifiers.org/hgnc/19 HGNC:8008 NRXN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/8008 UBERON:0015717 smooth muscle tissue layer of ejaculatory duct biolink:AnatomicalEntity mondo A smooth muscle tissue that is part of a ejaculatory duct. http://purl.obolibrary.org/obo/UBERON_0015717 muscle layer of ejaculatory duct UBERON:0015716 anal canal epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a anal canal. http://purl.obolibrary.org/obo/UBERON_0015716 anal canal epithelium|epithelium of anal canal HGNC:8002 NRL biolink:OntologyClass mondo http://identifiers.org/hgnc/8002 GO:0008168 methyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of a methyl group to an acceptor molecule. http://purl.obolibrary.org/obo/GO_0008168 methylase HGNC:28396 TMEM67 biolink:OntologyClass mondo http://identifiers.org/hgnc/28396 GO:0008172 S-methyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule. http://purl.obolibrary.org/obo/GO_0008172 GO:0033120 positive regulation of RNA splicing biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of RNA splicing. http://purl.obolibrary.org/obo/GO_0033120 GO:0033119 negative regulation of RNA splicing biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing. http://purl.obolibrary.org/obo/GO_0033119 PATO:0001985 frozen biolink:OntologyClass mondo A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point. http://purl.obolibrary.org/obo/PATO_0001985 NCBITaxon:11909 Human T-lymphotropic virus 2 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11909 human T-cell leukemia virus II|HTLV-2|Human T-lymphotropic virus Type II|Human T-Cell leukemia virus type 2|Human T-cell lymphotropic virus type 2|HTLV-II|Human lymphotropic virus type 2|human T cell leukemia virus II HTLV-II|human T-cell lymphotropic virus type II HTLV-II|human T lymphotropic virus type II HTLV-II|Human lymphotropic virus type II|Human T-cell lymphotropic virus type II|Human T-cell leukemia virus type II NCBITaxon:11908 Human T-cell leukemia virus type I organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11908 Human lymphotropic virus type I|Human T-cell leukemia virus-1|Human T-lymphotropic virus type 1|Human T cell leukemia virus type 1|Human T-cell lymphotropic virus 1|HTLV-1|human T-cell leukemia virus type 1 HTLV-1|Human T-cell leukemia virus type I HTLV-I|human T-cell lymphoma/leukemia virus type I HTLV-I|Human T-cell leukemia virus type 1|human T cell lymphotropic virus type I HTLV-I|human T cell leukemia virus type 1 HTLV-1|Human T-lymphotropic virus 1|human T-cell lymphotropic virus type 1, HTLV-1|human T-cell leukemia/lymphotropic virus type I HTLV-I|human T-lymphotropic virus type 1 HTLV-1|HTLV-I|human T-lymphotropic virus type I HTLV-I|Human adult T-cell leukemia virus|human T-cell leukemia virus I|human T-cell leukemia/lymphoma virus type I HTLV-I|Human T-cell lymphotropic virus type 1|Human T-cell lymphotropic virus type I GO:0035773 insulin secretion involved in cellular response to glucose stimulus biolink:OntologyClass mondo The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. http://purl.obolibrary.org/obo/GO_0035774 positive regulation of insulin secretion in response to glucose HP:0007435 Diffuse palmoplantar keratoderma biolink:PhenotypicFeature mondo MSH:D015776|SNOMEDCT_US:400123002|UMLS:C0022584 http://purl.obolibrary.org/obo/HP_0007435 HGNC:16391 CARD9 biolink:OntologyClass mondo http://identifiers.org/hgnc/16391 HGNC:16393 CARD11 biolink:OntologyClass mondo http://identifiers.org/hgnc/16393 PATO:0001997 decreased amount biolink:OntologyClass mondo An amount which is relatively low. http://purl.obolibrary.org/obo/PATO_0001997 decreased|subnumerary|reduced|present in fewer numbers in organism|decreased number PATO:0001995 organismal quality biolink:OntologyClass mondo A quality that inheres in an entire organism or part of an organism. http://purl.obolibrary.org/obo/PATO_0001995 GO:0008144 drug binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease. http://purl.obolibrary.org/obo/GO_0008144 GO:0008152 metabolic process biolink:OntologyClass mondo The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. http://purl.obolibrary.org/obo/GO_0008152 metabolism resulting in cell growth|metabolism|multicellular organism metabolic process|metabolic process resulting in cell growth|single-organism metabolic process GO:0008150 biological_process biolink:OntologyClass mondo A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. http://purl.obolibrary.org/obo/GO_0008150 single-organism process|physiological process|biological process|single organism process HGNC:28385 VWA3B biolink:OntologyClass mondo http://identifiers.org/hgnc/28385 HGNC:28358 D2HGDH biolink:OntologyClass mondo http://identifiers.org/hgnc/28358 HGNC:16378 OTOA biolink:OntologyClass mondo http://identifiers.org/hgnc/16378 HGNC:16380 TRIM32 biolink:OntologyClass mondo http://identifiers.org/hgnc/16380 GO:0035735 intraciliary transport involved in cilium assembly biolink:OntologyClass mondo The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. http://purl.obolibrary.org/obo/GO_0035735 intraflagellar transport involved in cilium morphogenesis|intraflagellar transport|intraciliary transport involved in cilium morphogenesis HGNC:28369 THOC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/28369 GO:0008104 protein localization biolink:OntologyClass mondo Any process in which a protein is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0008104 protein localisation|asymmetric protein localization|establishment and maintenance of protein localization|asymmetric protein localisation|establishment and maintenance of asymmetric protein localization HGNC:28337 C9orf72 biolink:OntologyClass mondo http://identifiers.org/hgnc/28337 NCBITaxon:118968 Coxiellaceae organism taxon mondo PMID:16280474|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_118968 Coxiella group NCBITaxon:118969 Legionellales organism taxon mondo PMID:16280474|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellaceae group HGNC:16356 USH1G biolink:OntologyClass mondo http://identifiers.org/hgnc/16356 HGNC:16353 MAGED2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16353 HGNC:16361 WHRN biolink:OntologyClass mondo http://identifiers.org/hgnc/16361 GO:0008119 thiopurine S-methyltransferase activity biolink:OntologyClass mondo Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether. http://purl.obolibrary.org/obo/GO_0008119 TPMT|mercaptopurine methyltransferase activity|S-adenosyl-L-methionine:thiopurine S-methyltransferase activity|thiopurine methyltransferase activity|6-thiopurine transmethylase activity HGNC:16369 PARK7 biolink:OntologyClass mondo http://identifiers.org/hgnc/16369 MONDO:0004599 barbiturate abuse biolink:Disease mondo ICD9:305.43|SCTID:231462006|DOID:8519 A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. DOID:8519|SNOMEDCT:231462006 http://purl.obolibrary.org/obo/MONDO_0004599 MONDO:0004598 acute cor pulmonale biolink:Disease mondo UMLS:C0155672|COHD:312927|ICD10:I26.09|SCTID:49584005|DOID:8517|ICD9:415.0 Acute form of cor pulmonale. SNOMEDCT:49584005|DOID:8517|UMLS:C0155672 http://purl.obolibrary.org/obo/MONDO_0004598 cor pulmonale, acute MONDO:0004595 acute pulmonary heart disease biolink:Disease mondo UMLS:C0155671|SCTID:67189007|DOID:8514|ICD9:415 DOID:8514|SNOMEDCT:67189007|UMLS:C0155671 http://purl.obolibrary.org/obo/MONDO_0004595 MONDO:0004594 puerperal pulmonary embolism biolink:Disease mondo ICD9:673|SCTID:200284000|ICD10:O88.23|ICD10:O88.21|DOID:8512|ICD9:673.81|ICD9:673.80 DOID:8512|SNOMEDCT:200284000 http://purl.obolibrary.org/obo/MONDO_0004594 HGNC:28434 CCNQ biolink:OntologyClass mondo http://identifiers.org/hgnc/28434 MONDO:0004597 pulmonary embolism and infarction biolink:Disease mondo SCTID:64662007|ICD9:415.19|DOID:8516|NCIT:C50714|ICD9:415.1|MESH:D054060|EFO:1001408 Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism. DOID:8516|SNOMEDCT:64662007|MESH:D054060|NCIT:C50714 http://purl.obolibrary.org/obo/MONDO_0004597 infarction, pulmonary|lung infarction|pulmonary infarction MONDO:0004596 cor pulmonale biolink:Disease mondo ICD10:I27.81|COHD:4307356|MESH:D011660|ICD10:I27.9|SCTID:274096000|UMLS:C0034072|DOID:8515 Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. DOID:8515|SNOMEDCT:274096000|MESH:D011660|UMLS:C0034072 http://purl.obolibrary.org/obo/MONDO_0004596 cor pulmonale|pulmonary heart diseases|heart diseases, pulmonary|diseases, pulmonary heart|heart disease, pulmonary|pulmonary heart disease|disease, pulmonary heart|cardiopulmonary disease MONDO:0004591 impetigo herpetiformis biolink:Disease mondo SCTID:65539006|DOID:8503|ICD9:694.3|UMLS:C1314968|EFO:1000715|ICD10:L40.1 An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. SNOMEDCT:65539006|UMLS:C1314968|DOID:8503 http://purl.obolibrary.org/obo/MONDO_0004591 MONDO:0004590 obsolete fundus dystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004590 MONDO:0004593 Bartholin duct cyst biolink:Disease mondo ICD10:N75.0|UMLS:C0004767|COHD:259865|SCTID:57044006|DOID:851|ICD9:616.2 Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice. UMLS:C0004767|SNOMEDCT:57044006|DOID:851|NCIT:C26706 http://purl.obolibrary.org/obo/MONDO_0004593 Bartholin's cyst|cyst of Bartholin's gland duct|Bartholin's duct cyst|cyst of Bartholin's gland MONDO:0004592 impetigo biolink:Disease mondo NCIT:C99088|MESH:D007169|SCTID:48277006|DOID:8504|ICD10:L01.00|UMLS:C0021099|COHD:140480|ICD10:L01.0|ICD10:L01|EFO:1000714|ICD9:684 A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs. DOID:8504|SNOMEDCT:48277006|MESH:D007169|NCIT:C99088|UMLS:C0021099 http://purl.obolibrary.org/obo/MONDO_0004592 GO:0033085 negative regulation of T cell differentiation in thymus biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation in the thymus. http://purl.obolibrary.org/obo/GO_0033085 negative regulation of thymocyte cell differentiation|negative regulation of thymocyte differentiation|negative regulation of T cell development in thymus|negative regulation of thymic T cell differentiation MONDO:0016588 infantile mercury poisoning biolink:Disease mondo Orphanet:247165|SCTID:66695004|UMLS:CN201782|ICD10:T56.1|MESH:D000170 Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia. SNOMEDCT:66695004|MESH:D000170|UMLS:CN201782|ORPHA:247165 http://purl.obolibrary.org/obo/MONDO_0016588 infantile mercury intoxication|pink disease|Swift-Feer disease|Swift disease|infantile acrodynia|Feer disease|erythroedema polyneuritis ordo_disease MONDO:0016589 progressive cerebello-cerebral atrophy biolink:Disease mondo Orphanet:247198 ORPHA:247198 http://purl.obolibrary.org/obo/MONDO_0016589 PCCA ordo_disease GO:0033081 regulation of T cell differentiation in thymus biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus. http://purl.obolibrary.org/obo/GO_0033081 regulation of thymocyte cell differentiation|regulation of T cell development in thymus|regulation of thymocyte differentiation|regulation of thymic T cell differentiation MONDO:0041535 mesenteric lymphadenitis due to Yersinia infection biolink:Disease mondo SCTID:13272007|UMLS:C0275758 An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis. SNOMEDCT:13272007|UMLS:C0275758 http://purl.obolibrary.org/obo/MONDO_0041535 mesenteric lymphadenitis due to Yersinia pseudotuberculosis|Yersinia pseudotuberculosis caused mesenteric lymphadenitis|Yersinia pseudotuberculosis mesenteric lymphadenitis|lymphadenitis mesenterialis Masshoff|Masshoff's syndrome MONDO:0041536 Far-East scarlet-like fever biolink:Disease mondo SCTID:47277009|UMLS:C0277513 A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe. SNOMEDCT:47277009|UMLS:C0277513 http://purl.obolibrary.org/obo/MONDO_0041536 FESLF|Izumi fever MONDO:0016584 mandibuloacral dysplasia biolink:Disease mondo ICD10:Q87.5|GARD:0011893|UMLS:CN118835|DC:0000267|Orphanet:2457|OMIMPS:248370 Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. ORPHA:2457|UMLS:CN118835|UMLS:C0432291 http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia with lipodystrophy|MAD ordo_malformation_syndrome MONDO:0016585 obsolete mansonelliasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016585 MONDO:0016586 systemic mastocytosis biolink:Disease mondo ICD10:C96.2|ONCOTREE:SM|GARD:0008616|SCTID:397016004|MedDRA:10042949|NCIT:C9235|UMLS:C0221013|Orphanet:2467|DOID:349 Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement. MESH:D034721|MEDDRA:10042949|ORPHA:2467|SNOMEDCT:397016004|NCIT:C9235|DOID:349|UMLS:C0221013 http://purl.obolibrary.org/obo/MONDO_0016586 SMCD - systemic mast cell disease|Mast cell disease|systemic tissue Mast cell disease|systemic mastocytosis, NOS|Agressive systemic mastocytosis|systemic tissue mast cell disease|systemic mastocytosis|systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)|systemic mast cell disease|SM ordo_group_of_disorders MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy biolink:Disease mondo ICD10:I42.8|SCTID:281170005|MedDRA:10058093|NCIT:C84571|UMLS:CN221565|GARD:0005847|Orphanet:247|DOID:0050431|ICD9:425.4|UMLS:CN239850|MESH:D019571|UMLS:C0349788 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death. UMLS:CN221565|NCIT:C84571|SNOMEDCT:281170005|UMLS:CN239850|ORPHA:247|DOID:0050431|MEDDRA:10058093|MESH:D019571|UMLS:C0349788 http://purl.obolibrary.org/obo/MONDO_0016587 ARVC cardiomyopathy|right ventricular dysplasia|arrhythmogenic right ventricular dysplasia/cardiomyopathy|ARVC|arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia|arrhythmogenic RVD|ARVD gard_rare|clingen|ordo_group_of_disorders MONDO:0016580 congenital pulmonary airway malformation biolink:Disease mondo NCIT:C98892|Orphanet:2444|SCTID:111318005|GARD:0006232|ICD10:Q33.0|MESH:D015615 An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size. MESH:D015615|ORPHA:2444|SNOMEDCT:111318005|NCIT:C98892 http://purl.obolibrary.org/obo/MONDO_0016580 congenital cystic adenomatous malformation of the lung|congenital cystic adenomatoid malformation of lung|congenital cystic disease of the lung|congenital cystic adenomatoid malformation|CCAM|CPAM|cystic adenomatoid malformation of lung|congenital cystic adenomatoid malformation of the lung ordo_malformation_syndrome MONDO:0016581 conotruncal heart malformations biolink:Disease mondo GARD:0008189|SCTID:218728005|Orphanet:2445|ICD9:747.11|UMLS:C1857586|OMIM:217095 Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). ORPHA:2445|UMLS:C1857586|SNOMEDCT:218728005|http://identifiers.org/omim/217095 http://purl.obolibrary.org/obo/MONDO_0016581 conotruncal heart malformations; CTHM|Double-outlet right ventricle|CTHM|conotruncal anomaly face syndrome|interrupted aortic Arch|truncus arteriosus communis|Taussig-Bing syndrome or defect|persistent truncus arteriosus|conotruncal heart malformations|conotruncal cardiac defects ordo_group_of_disorders GO:0033089 positive regulation of T cell differentiation in thymus biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus. http://purl.obolibrary.org/obo/GO_0033089 positive regulation of T cell development in thymus|positive regulation of thymocyte differentiation|positive regulation of thymic T cell differentiation|positive regulation of thymocyte cell differentiation MONDO:0016582 congenital mitral malformation biolink:Disease mondo Orphanet:2447|GARD:0001495 ORPHA:2447 http://purl.obolibrary.org/obo/MONDO_0016582 gard_rare|ordo_group_of_disorders MONDO:0016583 familial intestinal malrotation-facial anomalies syndrome biolink:Disease mondo Orphanet:2454|GARD:0005000|ICD10:Q43.3 ORPHA:2454 http://purl.obolibrary.org/obo/MONDO_0016583 Stalker-Chitayat syndrome|Stalker Chitayat syndrome|intestinal malrotation facial anomalies familial type ordo_malformation_syndrome GO:0045087 innate immune response biolink:OntologyClass mondo Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. http://purl.obolibrary.org/obo/GO_0045087 nonspecific immune response|innate immunity GO:0045088 regulation of innate immune response biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. http://purl.obolibrary.org/obo/GO_0045088 GO:0045089 positive regulation of innate immune response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. http://purl.obolibrary.org/obo/GO_0045089 stimulation of innate immune response|up-regulation of innate immune response|upregulation of innate immune response|up regulation of innate immune response MONDO:0016577 biliary atresia with splenic malformation syndrome biolink:Disease mondo Orphanet:244283|ICD10:Q44.2|UMLS:CN201730|UMLS:C4274029|SCTID:717156002 Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. UMLS:C4274029|SNOMEDCT:717156002|ORPHA:244283|UMLS:CN201730 http://purl.obolibrary.org/obo/MONDO_0016577 BASM syndrome ordo_malformation_syndrome MONDO:0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies biolink:Disease mondo UMLS:CN201731|Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. ORPHA:2443|UMLS:CN201731 http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nDNA anomalies|OXPHOS disease due to nDNA anomalies|OXPHOS disease due to nuclear DNA anomalies ordo_group_of_disorders MONDO:0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis biolink:Disease mondo Orphanet:244305|UMLS:CN228623 ORPHA:244305|UMLS:CN228623 http://purl.obolibrary.org/obo/MONDO_0016579 ordo_disease NCBITaxon:513040 Dioctophymatidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_513040 MONDO:0016573 acute fatty liver of pregnancy biolink:Disease mondo MESH:C537957|SCTID:716379000|UMLS:C1455728|Orphanet:243367|ICD10:O26.6|MedDRA:10000746|GARD:0009578 Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. SNOMEDCT:716379000|UMLS:C1455728|MEDDRA:10000746|ORPHA:243367|MESH:C537957 http://purl.obolibrary.org/obo/MONDO_0016573 AFLP|acute fatty liver, gestational gard_rare|ordo_disease HGNC:16466 SUFU biolink:OntologyClass mondo http://identifiers.org/hgnc/16466 MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome biolink:Disease mondo Orphanet:2435|SCTID:733469003|MESH:C537836|GARD:0003347|UMLS:C1835172 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit. ORPHA:2435|MESH:C537836|SNOMEDCT:733469003|UMLS:C1835172 http://purl.obolibrary.org/obo/MONDO_0016574 hereditary congenital hypopigmented and hyperpigmented macules|macules hereditary congenital hypopigmented and hyperpigmented|Westerhof-Beemer-Cormane syndrome|congenital hypomelanotic and hypermelanotic macules|macules, hereditary congenital hypopigmented and hyperpigmented|Westerhof Beemer Cormane syndrome gard_rare|ordo_disease NCBITaxon:513042 Dioctophyme organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_513042 MONDO:0016575 primary ciliary dyskinesia biolink:Disease mondo MESH:D007619|SCTID:86204009|MedDRA:10069713|MESH:D002925|DOID:9562|UMLS:C0008780|ICD10:Q34.8|SCTID:42402006|Orphanet:244|GARD:0006815|DOID:0050144|OMIMPS:244400|GARD:0004484|NCIT:C84797 Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). MEDDRA:10069713|DOID:9562|NCIT:C84638|SNOMEDCT:42402006|NCIT:C84797|MESH:D002925|SNOMEDCT:86204009|DOID:0050144|ORPHA:244|UMLS:C0008780|MESH:D007619 http://purl.obolibrary.org/obo/MONDO_0016575 PCD|Immotile cilia syndrome, Kartagener type|Primary ciliary dyskinesia, Kartagener type|Kartagener syndrome|ciliary dyskinesia primary|Primary ciliary dyskinesia and situs inversus|Dextrocardia bronchiectasis and sinusitis|ciliary motility disorder|Kartagener's syndrome|bronchiectasis, chronic sinusitis and dextrocardia syndrome|Dextrocardia-bronchiectasis-sinusitis syndrome|immotile ciliary syndrome|Siewert syndrome|kartageners syndrome|ICS ordo_disease NCBITaxon:513045 Dioctophyme renale organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_513045 MONDO:0016576 split hand-foot malformation biolink:Disease mondo SCTID:81208006|GARD:0006319|ICD10:Q72.7|ICD10:Q71.6|OMIMPS:183600|NCIT:C75000|UMLS:C0265554|Orphanet:2440|DOID:0090020 Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported. ORPHA:2440|NCIT:C75000|UMLS:C0265554|SNOMEDCT:81208006|DOID:0090020 http://purl.obolibrary.org/obo/MONDO_0016576 split-hand deformity|FEWER digits|split hand-split foot malformation|SHFM|split-hand/foot malformation|ectrodactyly|lobster-claw deformity|split hand foot malformation|isolated split hand-split foot malformation ordo_malformation_syndrome UBERON:0037191 wall of membranous labyrinth biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0037191 membranous labyrinth wall MONDO:0016570 primary pulmonary lymphoma biolink:Disease mondo UMLS:C0519063|ICD10:C85.7|SCTID:718200007|UMLS:C4273669|Orphanet:2420|MedDRA:10037418 Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG). MEDDRA:10037418|ORPHA:2420|UMLS:C4273669|UMLS:C0519063|SNOMEDCT:718200007 http://purl.obolibrary.org/obo/MONDO_0016570 ordo_disease GO:0033077 T cell differentiation in thymus biolink:OntologyClass mondo The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. http://purl.obolibrary.org/obo/GO_0033077 thymic T cell differentiation|thymocyte cell differentiation|T cell development in thymus|thymocyte differentiation MONDO:0016571 macrocephaly-short stature-paraplegia syndrome biolink:Disease mondo SCTID:722033000|MESH:C537718|Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. ORPHA:2427|SNOMEDCT:722033000|MESH:C537718 http://purl.obolibrary.org/obo/MONDO_0016571 Volcke-Soekarman syndrome ordo_malformation_syndrome MONDO:0016572 central bilateral macrogyria biolink:Disease mondo ICD10:Q04.8|SCTID:720632004|UMLS:C4303949|Orphanet:2431 Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children. ORPHA:2431|UMLS:C4303949|SNOMEDCT:720632004 http://purl.obolibrary.org/obo/MONDO_0016572 ordo_disease MONDO:0004577 corneal ulcer biolink:Disease mondo MESH:D003320|NCIT:C50515|ICD9:370.0|DOID:8463|ICD10:H16.00|UMLS:C0010043|ICD9:370.00|ICD10:H16.0|HP:0200020|SCTID:91514001|COHD:373202 Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber. SNOMEDCT:91514001|DOID:8463|MESH:D003320|NCIT:C50515|UMLS:C0010043 http://purl.obolibrary.org/obo/MONDO_0004577 Ulcer, corneal|cornea ulcer disease|ulcer disease of cornea UBERON:0013191 ovarian cortex biolink:AnatomicalEntity mondo the layer of the ovarian stroma lying immediately beneath the tunica albuginea, composed of connective tissue cells and fibers, among which are scattered primary and secondary (antral) follicles in various stages of development; the cortex varies in thickness according to the age of the individual, becoming thinner with advancing years; included in the follicles are the cumulus oophorus, membrana granulosa (and the granulosa cells inside it), corona radiata, zona pellucida, and primary oocyte; the zona pellucida, theca of follicle, antrum and liquor folliculi are also contained in the follicle; also in the cortex is the corpus luteum derived from the follicles. http://purl.obolibrary.org/obo/UBERON_0013191 cortex ovarii (zona parenchymatosa)|cortex of ovary MONDO:0004576 obsolete pellagra biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004576 UBERON:0013192 ovarian medulla biolink:AnatomicalEntity mondo highly vascular stroma found in the center of the ovary that forms from embryonic mesenchyme and contains blood vessels, lymphatic vessels, and nerves; this stroma forms the tissue of the hilum by which the ovarian ligament is attached, and through which the blood vessels enter; it does not contain any ovarian follicles. http://purl.obolibrary.org/obo/UBERON_0013192 medulla of ovary|medulla ovarii (zona vasculosa)|zona vasculosa of Waldeyer MONDO:0004579 retinoschisis biolink:Disease mondo COHD:381282|UMLS:C0152439|ICD10:H33.10|DOID:8465|SCTID:44268007|NCIT:C85046|MESH:D041441|ICD9:361.10 An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision. NCIT:C85046|DOID:8465|UMLS:C0152439|SNOMEDCT:44268007|MESH:D041441 http://purl.obolibrary.org/obo/MONDO_0004579 MONDO:0004578 flat retinoschisis biolink:Disease mondo DOID:8464|SCTID:83405000|ICD9:361.11|UMLS:C0154817 SNOMEDCT:83405000|UMLS:C0154817|DOID:8464 http://purl.obolibrary.org/obo/MONDO_0004578 MONDO:0004573 ariboflavinosis biolink:Disease mondo DOID:8454|SCTID:20307000|ICD10:E53.0|COHD:432580|ICD9:266.0 A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed) DOID:8454|SNOMEDCT:20307000 http://purl.obolibrary.org/obo/MONDO_0004573 vitamin B2 deficiency MONDO:0004572 cyclothymic disorder biolink:Disease mondo ICD9:301.1|ICD9:301.13|ICD10:F34.0|ICD9:301.10|COHD:440696|DOID:845|MESH:D003527|SCTID:76105009 An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood. MESH:D003527|DOID:845|SNOMEDCT:76105009 http://purl.obolibrary.org/obo/MONDO_0004572 affective personality disorder|cycloid personality|cyclothymic personality|cyclothymia MONDO:0004575 choline deficiency disease biolink:Disease mondo DOID:8456|SCTID:238113006|ICD9:266.2|MESH:D002796|UMLS:C0008412 A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984) SNOMEDCT:238113006|DOID:8456|MESH:D002796|UMLS:C0008412 http://purl.obolibrary.org/obo/MONDO_0004575 choline deficiency MONDO:0004574 pyridoxine deficiency anemia biolink:Disease mondo MESH:D026681|DOID:8455|ICD10:E53.1|NCIT:C85221|ICD9:281.8|GARD:0004616|ICD9:266.1|SCTID:86448001 Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. NCIT:C85221|SNOMEDCT:86448001|DOID:8455|MESH:D026681 http://purl.obolibrary.org/obo/MONDO_0004574 deficiency, pyridoxine|deficiency, vitamin B6|deficiency, vitamin B 6|vitamin deficiencies, B6|deficiencies, vitamin B6|vitamin B6 deficiency syndrome|B6 deficiencies, vitamin|vitamin B6 deficiency|pyridoxine Deficincy|B6 deficiency, vitamin|pyridoxine deficiency|vitamin B6 deficiencies|deficiency, B6 vitamin|B6 vitamin deficiency|B6 vitamin deficiencies|vitamin deficiency, B6|deficiencies, B6 vitamin gard_rare MONDO:0004571 intestinal impaction biolink:Disease mondo ICD9:560.30|ICD10:K56.49|SCTID:62851005|ICD10:K56.4|DOID:8448|ICD9:560.39 DOID:8448|SNOMEDCT:62851005 http://purl.obolibrary.org/obo/MONDO_0004571 MONDO:0004570 intestinal volvulus biolink:Disease mondo EFO:1000989|ICD10:K56.2|UMLS:C0042961|MESH:D045822|COHD:197603|SCTID:9707006|ICD9:560.2|DOID:8445 Twisting of a loop of bowel that results in intestinal obstruction. NCIT:C98963|DOID:8445|SNOMEDCT:9707006|MESH:D045822|UMLS:C0042961 http://purl.obolibrary.org/obo/MONDO_0004570 intestinal volvulus|volvulus|twist of intestine, bowel, or colon MONDO:0016566 loiasis biolink:Disease mondo UMLS:C0023968|MedDRA:10024797|GARD:0003283|MESH:D008118|Orphanet:2404|NCIT:C34784|SCTID:44250009|ICD10:B74.3|ICD9:125.2|DOID:13523|EFO:1000729 Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis. UMLS:C0023968|SNOMEDCT:44250009|ORPHA:2404|MEDDRA:10024797|MESH:D008118|NCIT:C34784|DOID:13523 http://purl.obolibrary.org/obo/MONDO_0016566 Loa loa filariasis|African eye worm gard_rare|ordo_disease MONDO:0016567 locked-in syndrome biolink:Disease mondo ICD10:G83.5|DOID:12697|SCTID:38023001|GARD:0006919|ICD9:344.81|Orphanet:2406|ICD10:G83.8|MedDRA:10024792|COHD:434644 Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking. DOID:12697|UMLS:C0023944|SNOMEDCT:38023001|ORPHA:2406|MEDDRA:10024792 http://purl.obolibrary.org/obo/MONDO_0016567 Cerebromedullospinal disconnection|locked in syndrome|locked-in state gard_rare|ordo_disease MONDO:0016568 Lowe-Kohn-Cohen syndrome biolink:Disease mondo GARD:0001695|UMLS:C2931080|Orphanet:2408|SCTID:766249007|ICD10:Q87.8|MESH:C535996 Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. MESH:C535996|UMLS:C2931080|SNOMEDCT:766249007|ORPHA:2408 http://purl.obolibrary.org/obo/MONDO_0016568 deafness nephritis anorectal malformation|Lowe Kohn Cohen syndrome|deafness-nephritis-ano-rectal malformation syndrome|deafness - nephritis - ano-rectal malformation|dominant ano-rectal malformation, nephritis and nerve-deafness gard_rare|ordo_malformation_syndrome MONDO:0016569 obsolete rare lymphatic malformation biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016569 HGNC:16438 SLC4A11 biolink:OntologyClass mondo http://identifiers.org/hgnc/16438 MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome biolink:Disease mondo Orphanet:240094|ICD10:G23.1|UMLS:CN226961 PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. UMLS:CN226961|ORPHA:240094 http://purl.obolibrary.org/obo/MONDO_0016562 PSP-pure akinesia with gait freezing|PSP-PAGF ordo_clinical_subtype MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome biolink:Disease mondo ICD10:G23.1|Orphanet:240103|UMLS:CN201681 PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. UMLS:CN201681|ORPHA:240103 http://purl.obolibrary.org/obo/MONDO_0016563 PSP-corticobasal syndrome|PSP-CBS ordo_clinical_subtype MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome biolink:Disease mondo ICD10:G23.1|Orphanet:240112|UMLS:CN226962 PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP. UMLS:CN226962|ORPHA:240112 http://purl.obolibrary.org/obo/MONDO_0016564 PSP-PNFA|PSP-AOS|progressive supranuclear palsy-apraxia of speech syndrome ordo_clinical_subtype MONDO:0016565 syndromic genetic obesity biolink:Disease mondo UMLS:CN226963|Orphanet:240371 UMLS:CN226963|ORPHA:240371 http://purl.obolibrary.org/obo/MONDO_0016565 syndrome associated with obesity (disease)|syndrome associated with obesity (disease)|syndromic obesity (disease) ordo_group_of_disorders MONDO:0016560 ptosis-syndactyly-learning difficulties syndrome biolink:Disease mondo UMLS:CN201643|Orphanet:238766 UMLS:CN201643|ORPHA:238766 http://purl.obolibrary.org/obo/MONDO_0016560 ordo_malformation_syndrome MONDO:0016561 1q44 microdeletion syndrome biolink:Disease mondo SCTID:719649004|GARD:0010943|UMLS:CN201644|ICD10:Q93.5|Orphanet:238769|UMLS:C4304540 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. UMLS:CN201644|UMLS:C4304540|ORPHA:238769|SNOMEDCT:719649004 http://purl.obolibrary.org/obo/MONDO_0016561 chromosome 1q44 microdeletion syndrome|Del(1)(q44)|monosomy 1q44 ordo_malformation_syndrome|gard_rare MONDO:0004588 night blindness biolink:Disease mondo DOID:8499|UMLS:C0028077|ICD10:H53.6|ICD10:H53.60|ICD9:368.60|ICD9:368.6|NCIT:C34850|ICD9:368.69|COHD:374037|MESH:D009755|SCTID:65194006 Inability to see clearly in dim light. DOID:8499|UMLS:C0028077|SNOMEDCT:65194006|NCIT:C37997|MESH:D009755|NCIT:C34850 http://purl.obolibrary.org/obo/MONDO_0004588 nyctalopia NCBITaxon:11974 Caliciviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11974 MONDO:0004587 hereditary night blindness biolink:Disease mondo DOID:8498|ICD10:H53.63|SCTID:193687000|ICD9:368.61 An instance of night blindness that is caused by an inherited modification of the individual's genome. DOID:8498|SNOMEDCT:193687000 http://purl.obolibrary.org/obo/MONDO_0004587 Oguchi's disease|congenital night blindness|hereditary night blindness MONDO:0004589 obsolete hereditary retinal dystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004589 MONDO:0004584 maple bark strippers' lung biolink:Disease mondo ICD10:J67.6|DOID:8484|ICD9:495.6|UMLS:C0155890|SCTID:86638007 UMLS:C0155890|DOID:8484|SNOMEDCT:86638007 http://purl.obolibrary.org/obo/MONDO_0004584 maple bark disease|maple bark stripper's disease|alveolitis due to cryptostroma corticale|maple-bark strippers' lung|maple bark-strippers' lung|maple bark stripper's lung HGNC:28422 TSEN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/28422 MONDO:0004583 transient retinal arterial occlusion biolink:Disease mondo ICD9:362.34|COHD:433195|NCIT:C35193|DOID:8482|UMLS:C0154840|ICD10:H34.0|SCTID:87224000 A partial, temporary occlusion of the retinal artery. UMLS:C0154840|DOID:8482|SNOMEDCT:87224000|NCIT:C35193 http://purl.obolibrary.org/obo/MONDO_0004583 transient retinal arterial occlusion|transient arterial retinal occlusion|retinal transient arterial occlusion HGNC:28423 STAC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/28423 MONDO:0004586 rheumatoid lung disease biolink:Disease mondo COHD:256197|ICD9:714.81|DOID:849|SCTID:398726004|UMLS:C0994344 Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis. UMLS:C0994344|SNOMEDCT:398726004|DOID:849 http://purl.obolibrary.org/obo/MONDO_0004586 rheumatoid lung MONDO:0004585 polyhydramnios (disease) biolink:Disease mondo DOID:8488|HP:0001561|ICD9:657.0|ICD9:657.00|SCTID:86203003|MESH:D006831|ICD9:657|ICD10:O40 An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. MESH:D006831|DOID:8488|SNOMEDCT:86203003|NCIT:C92848 http://purl.obolibrary.org/obo/MONDO_0004585 polyhydramnios MONDO:0004580 retinal degeneration biolink:Disease mondo SCTID:95695004|MESH:D012162|NCIT:C34979|DOID:8466 Degeneration of the retina. DOID:8466|MESH:D012162|NCIT:C34979|SNOMEDCT:95695004 http://purl.obolibrary.org/obo/MONDO_0004580 retina degeneration|retina, Degeneration Of|degeneration of retina MONDO:0004582 rheumatic myocarditis biolink:Disease mondo UMLS:C0155557|ICD9:391.9|SCTID:195136004|DOID:8481|NCIT:C35202|ICD9:398.0|COHD:320743|ICD10:M05.3|ICD10:I01.9|ICD10:I09.0 Inflammation of the myocardium in acute rheumatic heart disease. DOID:8481|SNOMEDCT:195136004|NCIT:C35202|UMLS:C0155557 http://purl.obolibrary.org/obo/MONDO_0004582 active rheumatic fever with myocarditis|acute rheumatic myocarditis (disorder) [ambiguous]|acute rheumatic carditis|acute rheumatic myocarditis|rheumatic degeneration of myocardium|rheumatic fever with myocarditis|rheumatoid myocarditis|rheumatic myocarditis MONDO:0004581 obsolete localized scleroderma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004581 MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea biolink:Disease mondo Orphanet:238763|ICD10:Q15.8|GARD:0010942|UMLS:CN201642 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. ORPHA:238763|UMLS:CN201642 http://purl.obolibrary.org/obo/MONDO_0016559 megalocornea-spherophakia-secondary glaucoma syndrome ordo_malformation_syndrome MONDO:0016555 transient congenital hypothyroidism due to maternal factor biolink:Disease mondo Orphanet:238696|ICD10:P72.2 ORPHA:238696 http://purl.obolibrary.org/obo/MONDO_0016555 ordo_group_of_disorders MONDO:0016556 transient congenital hypothyroidism due to neonatal factor biolink:Disease mondo Orphanet:238699|ICD10:P72.2 ORPHA:238699 http://purl.obolibrary.org/obo/MONDO_0016556 ordo_group_of_disorders MONDO:0016557 leukonychia totalis biolink:Disease mondo Orphanet:2387|SCTID:763792009|ICD10:Q84.4|MESH:C535889|GARD:0009759 Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. MESH:C535889|SNOMEDCT:763792009|UMLS:C0544855|ORPHA:2387 http://purl.obolibrary.org/obo/MONDO_0016557 hereditary white nails|total leukonychia ordo_disease MONDO:0016558 familial congenital mirror movements biolink:Disease mondo OMIMPS:157600|SCTID:229247004|Orphanet:238722|DOID:0111153|GARD:0012551|DC:0000563 Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. SNOMEDCT:229247004|DOID:0111153|ORPHA:238722 http://purl.obolibrary.org/obo/MONDO_0016558 bimanual synkinesis|isolated congenital controlateral synkinesia|hereditary congenital controlateral synkinesia|congenital mirror movements|hereditary congenital mirror movements|isolated congenital mirror movements|congenital mirror movement disorder|CMM|familial congenital mirror movements|familial congenital controlateral synkinesia ordo_disease MONDO:0016551 congenital primary megaureter, refluxing form biolink:Disease mondo ICD10:Q62.2|Orphanet:238650 ORPHA:238650 http://purl.obolibrary.org/obo/MONDO_0016551 ordo_clinical_subtype MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form biolink:Disease mondo Orphanet:238654|ICD10:Q62.2 ORPHA:238654 http://purl.obolibrary.org/obo/MONDO_0016552 ordo_clinical_subtype MONDO:0016553 isolated congenital hypogonadotropic hypogonadism biolink:Disease mondo Orphanet:238666|UMLS:CN924907|ICD10:E23.0 A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome. UMLS:CN924907|ORPHA:238666 http://purl.obolibrary.org/obo/MONDO_0016553 nonsyndromic congenital hypogonadotropic hypogonadism ordo_group_of_disorders GO:0033059 cellular pigmentation biolink:OntologyClass mondo The deposition or aggregation of coloring matter in a cell. http://purl.obolibrary.org/obo/GO_0033059 HGNC:16446 CARD14 biolink:OntologyClass mondo http://identifiers.org/hgnc/16446 MONDO:0016554 neonatal iodine exposure biolink:Disease mondo Orphanet:238688|ICD10:P72.2|UMLS:CN226956|GARD:0003025 Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates. UMLS:CN226956|ORPHA:238688 http://purl.obolibrary.org/obo/MONDO_0016554 iodine antenatal exposure ordo_disease MONDO:0016550 congenital primary megaureter, obstructed form biolink:Disease mondo ICD10:Q62.2|Orphanet:238646 ORPHA:238646 http://purl.obolibrary.org/obo/MONDO_0016550 ordo_clinical_subtype GO:0070075 tear secretion biolink:OntologyClass mondo The regulated release of the aqueous layer of the tear film from the lacrimal glands. Tears are the liquid product of a process of lacrimation to clean and lubricate the eyes. Tear fluid contains water, mucin, lipids, lysozyme, lactoferrin, lipocalin, lacritin, immunoglobulins, glucose, urea, sodium, and potassium. http://purl.obolibrary.org/obo/GO_0070075 UBERON:0037144 wall of heart biolink:AnatomicalEntity mondo wall of organ which has as its parts the endocardium, myocardium , epicardium, and the cardiac septum, surrounded by the pericardial sac proper and is continuous with the walls of the systemic and pulmonary arterial and venous trees. http://purl.obolibrary.org/obo/UBERON_0037144 cardiac wall GO:0033048 negative regulation of mitotic sister chromatid segregation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis. http://purl.obolibrary.org/obo/GO_0033048 GO:0033047 regulation of mitotic sister chromatid segregation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis. http://purl.obolibrary.org/obo/GO_0033047 HGNC:16412 NLRC4 biolink:OntologyClass mondo http://identifiers.org/hgnc/16412 GO:0033046 negative regulation of sister chromatid segregation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation. http://purl.obolibrary.org/obo/GO_0033046 GO:0033045 regulation of sister chromatid segregation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of sister chromatid segregation. http://purl.obolibrary.org/obo/GO_0033045 GO:0033044 regulation of chromosome organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome. http://purl.obolibrary.org/obo/GO_0033044 regulation of chromosome organisation|regulation of chromosome organization and biogenesis GO:0033043 regulation of organelle organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. http://purl.obolibrary.org/obo/GO_0033043 regulation of organelle organization and biogenesis|regulation of organelle organisation HGNC:28403 TRMT10A biolink:OntologyClass mondo http://identifiers.org/hgnc/28403 HGNC:16429 LIAS biolink:OntologyClass mondo http://identifiers.org/hgnc/16429 GO:0033036 macromolecule localization biolink:OntologyClass mondo Any process in which a macromolecule is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0033036 macromolecule localisation GO:0070069 cytochrome complex biolink:OntologyClass mondo A protein complex in which at least one of the proteins is a cytochrome, i.e. a heme-containing protein involved in catalysis of redox reactions. http://purl.obolibrary.org/obo/GO_0070069 GO:0070093 negative regulation of glucagon secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of glucagon. http://purl.obolibrary.org/obo/GO_0070093 down-regulation of glucagon secretion|downregulation of glucagon secretion|down regulation of glucagon secretion|inhibition of glucagon secretion GO:0070094 positive regulation of glucagon secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon. http://purl.obolibrary.org/obo/GO_0070094 upregulation of glucagon secretion|stimulation of glucagon secretion|up regulation of glucagon secretion|activation of glucagon secretion|up-regulation of glucagon secretion GO:0070091 glucagon secretion biolink:OntologyClass mondo The regulated release of glucagon from secretory granules in the A (alpha) cells of the pancreas (islets of Langerhans). http://purl.obolibrary.org/obo/GO_0070091 GO:0070092 regulation of glucagon secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of glucagon. http://purl.obolibrary.org/obo/GO_0070092 GO:0008066 glutamate receptor activity biolink:OntologyClass mondo Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. http://purl.obolibrary.org/obo/GO_0008066 NCBITaxon:33317 Protostomia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33317 CHEBI:131699 EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor biolink:ChemicalSubstance mondo A DNA polymerase inhibitor that interferes with the action of a DNA-directed DNA polymerase (EC 2.7.7.7). http://purl.obolibrary.org/obo/CHEBI_131699 DNA polymerase gamma inhibitor|Taq Pol I inhibitors|Taq DNA polymerase inhibitors|DNA nucleotidyltransferase (DNA-directed) inhibitors|DNA-dependent DNA polymerase inhibitor|sequenase inhibitor|deoxyribonucleic acid polymerase inhibitor|EC 2.7.7.7 inhibitors|Tca DNA polymerase inhibitors|EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitors|DNA duplicase inhibitor|duplicase inhibitors|DNA polymerase alpha inhibitors|deoxyribonucleic polymerase I inhibitor|DNA polymerase II inhibitor|DNA polymerase beta inhibitor|deoxyribonucleic acid duplicase inhibitors|Klenow fragment inhibitors|DNA replicase inhibitor|DNA polymerase inhibitors|deoxyribonucleate nucleotidyltransferase inhibitor|deoxyribonucleate nucleotidyltransferase inhibitors|DNA replicase inhibitors|Klenow fragment inhibitor|DNA polymerase inhibitor|DNA polymerase beta inhibitors|deoxyribonucleic acid duplicase inhibitor|DNA polymerase II inhibitors|deoxyribonucleic polymerase I inhibitors|DNA duplicase inhibitors|Tca DNA polymerase inhibitor|DNA polymerase alpha inhibitor|duplicase inhibitor|EC 2.7.7.7 inhibitor|sequenase inhibitors|deoxyribonucleic acid polymerase inhibitors|DNA-dependent DNA polymerase inhibitors|Taq DNA polymerase inhibitor|DNA polymerase gamma inhibitors|Taq Pol I inhibitor|DNA nucleotidyltransferase (DNA-directed) inhibitor|DNA nucleotidyltransferase inhibitor|deoxynucleate polymerase inhibitor|deoxyribonucleic polymerase inhibitor|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitors|DNA polymerase III inhibitors|deoxyribonucleic duplicase inhibitor|DNA polymerase I inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitors|DNA polymerase I inhibitor|deoxyribonucleic duplicase inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitor|DNA polymerase III inhibitor|deoxyribonucleic polymerase inhibitors|DNA nucleotidyltransferase inhibitors|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitor|deoxynucleate polymerase inhibitors GO:0070085 glycosylation biolink:OntologyClass mondo The covalent attachment and further modification of carbohydrate residues to a substrate molecule. http://purl.obolibrary.org/obo/GO_0070085 MONDO:0016590 obsolete collecting duct carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016590 GO:0104004 cellular response to environmental stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an environmental stimulus. http://purl.obolibrary.org/obo/GO_0104004 MONDO:0041526 pregnancy disorder with abortive outcome biolink:Disease mondo SCTID:363681007|ICD10:O00.O08 SNOMEDCT:363681007 http://purl.obolibrary.org/obo/MONDO_0041526 pregnancy with abortive outcome MONDO:0016599 autosomal dominant secondary polycythemia biolink:Disease mondo Orphanet:247511|UMLS:CN201790|ICD10:D75.1 Autosomal dominant form of secondary polycythemia. UMLS:CN201790|ORPHA:247511 http://purl.obolibrary.org/obo/MONDO_0016599 autosomal dominant secondary erythrocytosis|secondary polycythemia, autosomal dominant ordo_disease HGNC:16404 IL17F biolink:OntologyClass mondo http://identifiers.org/hgnc/16404 HGNC:16406 EFHC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16406 GO:0008080 N-acetyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule. http://purl.obolibrary.org/obo/GO_0008080 MONDO:0016595 inhalational anthrax biolink:Disease mondo DOID:0050160|UMLS:C0155866|ICD10:A22.1|Orphanet:247257|MESH:C571912|MedDRA:10035667|SCTID:11389007|ICD9:022.1 A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated. SNOMEDCT:11389007|DOID:0050160|MESH:C571912|MEDDRA:10035667|ORPHA:247257|UMLS:C0155866 http://purl.obolibrary.org/obo/MONDO_0016595 woolsorters' disease|pulmonary anthrax|inhalation anthrax|respiratory anthrax disease|inhalation anthrax disease|wool-sorters' disease|respiratory anthrax ordo_disease HGNC:16400 NLRP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/16400 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome biolink:Disease mondo Orphanet:247262|OMIMPS:239300|SCTID:33982008|UMLS:C1855923 SNOMEDCT:33982008|UMLS:C1855923|ORPHA:247262 http://purl.obolibrary.org/obo/MONDO_0016596 HPMR|Mabry syndrome|hyperphosphatasia with intellectual disability syndrome|hyperphosphatasia with mental retardation syndrome ordo_disease MONDO:0016597 generalized pustular psoriasis biolink:Disease mondo ICD9:696.1|SCTID:238612002|ICD10:L40.1|GARD:0012819|Orphanet:247353 Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis. UMLS:C0343055|ORPHA:247353|SNOMEDCT:238612002 http://purl.obolibrary.org/obo/MONDO_0016597 GPP ordo_disease MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene biolink:Disease mondo UMLS:CN226972|Orphanet:247378|ICD10:D75.1 UMLS:CN226972|ORPHA:247378 http://purl.obolibrary.org/obo/MONDO_0016598 autosomal recessive secondary polycythemia, non-Chuvash type|autosomal recessive secondary erythrocytosis not associated with VHL gene|autosomal recessive secondary erythrocytosis, non-Chuvash type ordo_disease MONDO:0016591 sporadic adult-onset ataxia of unknown etiology biolink:Disease mondo Orphanet:247234|SCTID:734023003 Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. SNOMEDCT:734023003|ORPHA:247234 http://purl.obolibrary.org/obo/MONDO_0016591 SAOA|idiopathic late-onset cerebellar ataxia ordo_disease GO:0033013 tetrapyrrole metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolism MONDO:0016592 non-hereditary degenerative ataxia biolink:Disease mondo Orphanet:247239 ORPHA:247239 http://purl.obolibrary.org/obo/MONDO_0016592 ordo_group_of_disorders MONDO:0016593 acquired ataxia biolink:Disease mondo SCTID:722968003|Orphanet:247242 An instance of cerebellar ataxia that is acquired during the lifetime of the individual. SNOMEDCT:722968003|ORPHA:247242 http://purl.obolibrary.org/obo/MONDO_0016593 acquired cerebellar ataxia ordo_group_of_disorders MONDO:0016594 superficial siderosis biolink:Disease mondo GARD:0009484|ICD10:I69.0|Orphanet:247245 Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria. ORPHA:247245 http://purl.obolibrary.org/obo/MONDO_0016594 hemosiderosis of the central nervous system|superficial hemosiderosis of the central nervous system|superficial siderosis of the CNS|superficial siderosis of the central nervous system|superficial hemosiderosis of the CNS ordo_disease MONDO:0004515 obsolete olfactory neural tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004515 UBERON:0015791 digit connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a digit. http://purl.obolibrary.org/obo/UBERON_0015791 MONDO:0004514 chronic rhinitis biolink:Disease mondo DOID:8252|COHD:259848|ICD9:472.0|NCIT:C34479|UMLS:C0008711|ICD10:J31.0|SCTID:86094006 Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough. SNOMEDCT:86094006|NCIT:C34479|UMLS:C0008711|DOID:8252 http://purl.obolibrary.org/obo/MONDO_0004514 rhinitis, chronic|rhinitis - chronic UBERON:0015790 autopod skin biolink:AnatomicalEntity mondo A zone of skin that is part of a autopod region. http://purl.obolibrary.org/obo/UBERON_0015790 paw skin MONDO:0004517 ureter tuberculosis biolink:Disease mondo ICD9:016.2|UMLS:C0152800|SCTID:81359005|DOID:827|ICD9:016.20 A tuberculosis that involves the ureter. UMLS:C0152800|SNOMEDCT:81359005|DOID:827 http://purl.obolibrary.org/obo/MONDO_0004517 ureter tuberculosis|tuberculosis of ureter MONDO:0004516 bulbomembranous urethral cancer biolink:Disease mondo NCIT:C39869|UMLS:C1511339|DOID:8259 DOID:8259|UMLS:C1511339|NCIT:C39869 http://purl.obolibrary.org/obo/MONDO_0004516 bulbomembranous urethral malignant neoplasm MONDO:0004511 lower clivus meningioma biolink:Disease mondo NCIT:C5288|UMLS:C1334434|DOID:8239 A meningioma that affects the lower clivus. UMLS:C1334434|NCIT:C5288|DOID:8239 http://purl.obolibrary.org/obo/MONDO_0004511 meningioma of Lower clivus|meningioma of the lower clivus MONDO:0004510 inflammatory liposarcoma biolink:Disease mondo NCIT:C6508|UMLS:C1370890|DOID:8233 A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates. NCIT:C6508|UMLS:C1370890|DOID:8233 http://purl.obolibrary.org/obo/MONDO_0004510 inflammatory liposarcoma MONDO:0004513 adult pleomorphic rhabdomyosarcoma biolink:Disease mondo ICDO:8901/3|DOID:8251|NCIT:C27369|UMLS:C1332211 An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities. UMLS:C1332211|NCIT:C27369|DOID:8251 http://purl.obolibrary.org/obo/MONDO_0004513 pleomorphic rhabdomyosarcoma of adults|adult pleomorphic rhabdomyosarcoma MONDO:0004512 meningeal melanomatosis biolink:Disease mondo ICDO:8728/3|UMLS:C1266114|NCIT:C6891|DOID:8243 A meningeal melanoma with secondary diffuse meningeal spread. (WHO) UMLS:C1266114|NCIT:C6891|DOID:8243 http://purl.obolibrary.org/obo/MONDO_0004512 melanomatosis of meningeal cluster|meningeal melanomatosis|leptomeningeal melanomatosis|meningeal cluster melanomatosis|meningeal melanomatosis (morphologic abnormality) UBERON:0013136 vein of lip biolink:AnatomicalEntity mondo A vein that drains a lip. http://purl.obolibrary.org/obo/UBERON_0013136 lip vein|vena labialis|labial vein|labial vein of face UBERON:0013139 ligament of liver biolink:AnatomicalEntity mondo A nonskeletal ligament that is part of a liver. http://purl.obolibrary.org/obo/UBERON_0013139 liver ligament|hepatic ligament UBERON:0015795 right lung lobar bronchus epitheium biolink:AnatomicalEntity mondo A epithelium that is part of a lobar bronchus of right lung. http://purl.obolibrary.org/obo/UBERON_0015795 UBERON:0015794 left lung lobar bronchus epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a lobar bronchus of left lung. http://purl.obolibrary.org/obo/UBERON_0015794 UBERON:0015796 liver blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a liver. http://purl.obolibrary.org/obo/UBERON_0015796 hepatic blood vessel MONDO:0016504 primary unilateral adrenal hyperplasia biolink:Disease mondo SCTID:715868005|UMLS:C4274967|ICD10:E26.0|Orphanet:231580 Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. ORPHA:231580|UMLS:C4274967|SNOMEDCT:715868005 http://purl.obolibrary.org/obo/MONDO_0016504 PUAH ordo_disease MONDO:0016505 aldosterone-producing adrenal cortex adenoma biolink:Disease mondo UMLS:C1706762|Orphanet:231625|UMLS:CN226945|ICD10:E26.0|EFO:1000015|MedDRA:10056950|NCIT:C48451|ICD10:C74.0 An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness. NCIT:C48451|ORPHA:231625|UMLS:CN226945|UMLS:C1706762 http://purl.obolibrary.org/obo/MONDO_0016505 aldosterone producing adrenal cortical adenoma|aldosterone producing adrenal cortex adenoma|Pure aldosterone-producing adrenocortical carcinoma|aldosterone-producing adrenal cortex adenoma|APAC|Pure aldosterone-secreting adrenocortical carcinoma|adrenocortical carcinoma with pure aldosterone hypersecretion|Pure APAC ordo_disease UBERON:0001152 cystic duct biolink:AnatomicalEntity mondo the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct http://purl.obolibrary.org/obo/UBERON_0001152 ductus cysticus MONDO:0016506 ectopic aldosterone-producing tumor biolink:Disease mondo UMLS:CN201515|Orphanet:231632|ICD10:E26.8 Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement. UMLS:CN201515|ORPHA:231632 http://purl.obolibrary.org/obo/MONDO_0016506 Extra-adrenal aldosterone-producing tumor ordo_disease MONDO:0016507 rare surgically correctable form of primary aldosteronism biolink:Disease mondo Orphanet:231637|UMLS:CN226946 Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. ORPHA:231637|UMLS:CN226946 http://purl.obolibrary.org/obo/MONDO_0016507 obsoletion_candidate|ordo_group_of_disorders MONDO:0016500 acute sensory ataxic neuropathy biolink:Disease mondo Orphanet:231466|SCTID:766049000|ICD10:G61.0|UMLS:CN201503 Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain. ORPHA:231466|UMLS:CN201503|SNOMEDCT:766049000 http://purl.obolibrary.org/obo/MONDO_0016500 acute sensory ataxic Guillain-Barré syndrome|acute sensory ataxic Guillain-BarrC) syndrome|acute sensory ataxic GBS|ASAN ordo_disease GO:0060632 regulation of microtubule-based movement biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins. http://purl.obolibrary.org/obo/GO_0060632 MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis biolink:Disease mondo Orphanet:231500|ICD10:E70.3|UMLS:CN201506 Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. ORPHA:231500|UMLS:CN201506 http://purl.obolibrary.org/obo/MONDO_0016501 HPS with pulmonary fibrosis ordo_clinical_subtype MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis biolink:Disease mondo Orphanet:231512|ICD10:E70.3|UMLS:CN201507 Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis. ORPHA:231512|UMLS:CN201507 http://purl.obolibrary.org/obo/MONDO_0016502 HPS without pulmonary fibrosis ordo_clinical_subtype MONDO:0016503 congenital erosive and vesicular dermatosis biolink:Disease mondo Orphanet:231573 ORPHA:231573 http://purl.obolibrary.org/obo/MONDO_0016503 CEVD|congenital erosive and vesicular dermatosis with reticulated supple scarring ordo_disease UBERON:0001158 descending colon biolink:AnatomicalEntity mondo The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon. http://purl.obolibrary.org/obo/UBERON_0001158 colon descendens UBERON:0001157 transverse colon biolink:AnatomicalEntity mondo The proximal-distal subdivision of colon that runs transversely across the upper part of the abdomen, from the right to the left colic flexure. Continuous with the descending colon[BTO,modified]. http://purl.obolibrary.org/obo/UBERON_0001157 colon transversum CHEBI:24527 herbicide biolink:ChemicalSubstance mondo A substance used to destroy plant pests. http://purl.obolibrary.org/obo/CHEBI_24527 herbicides|Unkrautbekaempfungsmittel|Wildkrautbekaempfungsmittel|Unkrautvertilgungsmittel|Herbizid UBERON:0001159 sigmoid colon biolink:AnatomicalEntity mondo The part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity. http://purl.obolibrary.org/obo/UBERON_0001159 colon sigmoideum|sigmoid flexure|sigmoid colon|pelvic colon MONDO:0004508 periapical periodontitis biolink:Disease mondo EFO:1001391|MESH:D010485|UMLS:C0031030|ICD10:K04.5|SCTID:39273001|DOID:823 Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess. UMLS:C0031030|SNOMEDCT:39273001|DOID:823|MESH:D010485 http://purl.obolibrary.org/obo/MONDO_0004508 apical periodontitis|apical periodontitis NOS UBERON:0001154 vermiform appendix biolink:AnatomicalEntity mondo A blind-ended tube connected to the cecum, from which it develops embryologically[WP]. http://purl.obolibrary.org/obo/UBERON_0001154 vermix|cecal appendix|apex of caecum|appendix|apex of cecum|appendix vermiformis|caecal appendix|appendix vermiformis MONDO:0004507 atypical breast papilloma biolink:Disease mondo NCIT:C36089|UMLS:C1332346|DOID:8227 An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia. DOID:8227|NCIT:C36089|UMLS:C1332346 http://purl.obolibrary.org/obo/MONDO_0004507 atypical breast papilloma UBERON:0001153 caecum biolink:AnatomicalEntity mondo A pouch in the digestive tract that connects the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction. http://purl.obolibrary.org/obo/UBERON_0001153 blindgut|intestinum caecum|caeca|cecum|blind intestine|intestinum crassum caecum|ceca|caecum|intestinum crassum cecum UBERON:0001156 ascending colon biolink:AnatomicalEntity mondo Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified] http://purl.obolibrary.org/obo/UBERON_0001156 colon ascendens|spiral colon MONDO:0004509 intrahepatic biliary papillomatosis biolink:Disease mondo NCIT:C7125|UMLS:C1334258|DOID:8230 A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts. DOID:8230|UMLS:C1334258|NCIT:C7125 http://purl.obolibrary.org/obo/MONDO_0004509 intrahepatic bile duct papillary neoplasm|intrahepatic bile duct papillomatosis|intrahepatic biliary papillomatosis UBERON:0001155 colon biolink:AnatomicalEntity mondo Last portion of the large intestine before it becomes the rectum. http://purl.obolibrary.org/obo/UBERON_0001155 posterior intestine|large bowel|hindgut MONDO:0004526 mixed endometrial stromal and smooth muscle tumor biolink:Disease mondo UMLS:C1513364|UMLS:C1519865|DOID:8302|NCIT:C40178 A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma. NCIT:C40178|UMLS:C1513364|UMLS:C1519865|DOID:8302 http://purl.obolibrary.org/obo/MONDO_0004526 Stromomyoma|mixed endometrial stromal and smooth muscle neoplasm|uterine corpus soft tissue neoplasm MONDO:0004525 scabies biolink:Disease mondo DOID:8295|ICD9:133.0|ICD10:B86|NCIT:C34998|COHD:140949|MESH:D012532|SCTID:128869009|UMLS:C0036262 A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows. MESH:D012532|SNOMEDCT:128869009|NCIT:C34998|UMLS:C0036262|DOID:8295 http://purl.obolibrary.org/obo/MONDO_0004525 infestation by Sarcoptes scabiei|sarcoptic itch|infestation by Sarcoptes scabiei var hominis|Sarcoptes scabiei disease or disorder|Sarcoptes scabiei infectious disease|Sarcoptes scabiei caused disease or disorder CHEBI:24532 organic heterocyclic compound biolink:ChemicalSubstance mondo A cyclic compound having as ring members atoms of carbon and at least of one other element. http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocycle|organic heterocyclic compounds MONDO:0004528 lymph node palisaded myofibroblastoma biolink:Disease mondo NCIT:C6584|DOID:8304|UMLS:C1335295 A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading. NCIT:C6584|UMLS:C1335295|DOID:8304 http://purl.obolibrary.org/obo/MONDO_0004528 palisaded lymph node myofibroblastoma|palisaded myofibroblastoma of lymph node|palisaded myofibroblastoma of the lymph node GO:1901738 regulation of vitamin A metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of vitamin A metabolic process. http://purl.obolibrary.org/obo/GO_1901738 regulation of vitamin A metabolism CHEBI:24531 heterocyclic antibiotic biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_24531 MONDO:0004527 congenital granular cell tumor biolink:Disease mondo DOID:8303 An instance of granular cell tumor that is present from birth. DOID:8303 http://purl.obolibrary.org/obo/MONDO_0004527 congenital granular cell tumor MONDO:0004522 peritonitis biolink:Disease mondo DOID:8283|ICD9:567.8|ICD9:567.89|ICD9:567.82|COHD:196152|EFO:0008588|NCIT:C26849|SCTID:86422009 Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. DOID:8283|SNOMEDCT:86422009|NCIT:C26849 http://purl.obolibrary.org/obo/MONDO_0004522 acute generalized peritonitis|inflammation of peritoneum|primary bacterial peritonitis|retractile mesenteritis|peritoneum inflammation|sclerosing mesenteritis MONDO:0004521 adult epithelioid sarcoma biolink:Disease mondo DOID:8282|NCIT:C7944|UMLS:C0279545 An epithelioid sarcoma occurring in adults. UMLS:C0279545|NCIT:C7944|DOID:8282 http://purl.obolibrary.org/obo/MONDO_0004521 adult epithelioid sarcoma|epithelioid sarcoma of adults|epithelioid sarcoma MONDO:0004524 thyroid gland atypical follicular adenoma biolink:Disease mondo UMLS:C1266046|NCIT:C27729|DOID:8292|ICDO:8330/1 A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign. UMLS:C1266046|NCIT:C27729|DOID:8292 http://purl.obolibrary.org/obo/MONDO_0004524 atypical follicular adenoma|thyroid gland atypical follicular adenoma|atypical follicular adenoma (morphologic abnormality) MONDO:0004523 clear cell squamous cell skin carcinoma biolink:Disease mondo UMLS:C0345978|NCIT:C4459|SCTID:254652000|DOID:8288 A squamous cell carcinoma of the skin with a prominent clear cell component. UMLS:C0345978|SNOMEDCT:254652000|DOID:8288|NCIT:C4459 http://purl.obolibrary.org/obo/MONDO_0004523 clear cell squamous cell skin carcinoma|clear cell squamous cell carcinoma of skin|clear cell squamous cell carcinoma of the skin HGNC:84 ACACA biolink:OntologyClass mondo http://identifiers.org/hgnc/84 HGNC:87 ACAD8 biolink:OntologyClass mondo http://identifiers.org/hgnc/87 UBERON:0015788 olfactory apparatus chamber biolink:AnatomicalEntity mondo An anatomical chamber that is part of the olfactory apparatus, consisting of cavity walls (nasal epithelium and mucosal layers) and the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present. http://purl.obolibrary.org/obo/UBERON_0015788 UBERON:0013126 vein of abdomen biolink:AnatomicalEntity mondo A vein that is part of a abdomen. http://purl.obolibrary.org/obo/UBERON_0013126 abdominal vein UBERON:0015787 upper respiratory conduit biolink:AnatomicalEntity mondo Any anatomical conduit which is part of the upper respiratory tract http://purl.obolibrary.org/obo/UBERON_0015787 respiratory conduit MONDO:0004520 intratubular embryonal carcinoma biolink:Disease mondo NCIT:C7325|UMLS:C1336096|DOID:8275 Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.) NCIT:C7325|UMLS:C1336096|DOID:8275 http://purl.obolibrary.org/obo/MONDO_0004520 stage 0 testicular embryonal carcinoma aJCC v7|stage 0 testicular embryonal carcinoma aJCC v6|intratubular embryonal carcinoma|stage 0 testicular embryonal carcinoma aJCC v6 and v7|stage 0 testicular embryonal carcinoma HGNC:89 ACADM biolink:OntologyClass mondo http://identifiers.org/hgnc/89 UBERON:0015789 cranial or facial muscle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0015789 cranial/facial muscle|craniofacial muscle|cranial-facial muscle|cranio-facial muscle UBERON:0013121 proximal epiphysis of phalanx of pes biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013121 basal epiphysis of phalanx of foot|basis phalangis pedis|basis phalangis (pedis)|proximal epiphysis of phalanx of toe|base of phalanx of foot UBERON:0013122 distal epiphysis of phalanx of pes biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013122 ungual tuberosity of distal phalanx of toe|distal epiphysis of phalanx of toe|caput phalangis pedis|distal end of phalanx of foot|caput phalangis (pedis)|head of phalanx of foot UBERON:0015783 smooth muscle layer in fatty layer of subcutaneous tissue biolink:AnatomicalEntity mondo A smooth muscle tissue that is part of a hypodermis. http://purl.obolibrary.org/obo/UBERON_0015783 stratum musculosum panniculi adiposi telae subcutaneae|muscle layer in fatty layer of subcutaneous tissue UBERON:0001141 right renal vein biolink:AnatomicalEntity mondo A renal vein that drains the right kidney http://purl.obolibrary.org/obo/UBERON_0001141 UBERON:0001140 renal vein biolink:AnatomicalEntity mondo Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. http://purl.obolibrary.org/obo/UBERON_0001140 vein of kidney|kidney vein|renal venous tree|venae renales UBERON:0013118 sulcus of brain biolink:AnatomicalEntity mondo A depression or fissure in the surface of the brain. It surrounds the gyri, creating the characteristic appearance of the brain in humans and other large mammals. http://purl.obolibrary.org/obo/UBERON_0013118 cerebral sulcus|cerebral sulci|fissure of brain|sulcus|sulci & spaces|cerebral sulci GO:0060623 regulation of chromosome condensation biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/GO_0060623 UBERON:0001146 suprarenal vein biolink:AnatomicalEntity mondo A vein that drains the adrenal gland. http://purl.obolibrary.org/obo/UBERON_0001146 adrenal vein GO:0060627 regulation of vesicle-mediated transport biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell. http://purl.obolibrary.org/obo/GO_0060627 UBERON:0001148 median nerve biolink:AnatomicalEntity mondo A nerve of the arm that originates from the brachial plexus and is formed from parts of the medial and lateral cords of the brachial plexus, and continues down the arm to enter the forearm with the brachial artery. It originates from the brachial plexus with roots from C5, C6, C7, C8 & T1. http://purl.obolibrary.org/obo/UBERON_0001148 nervus medianus UBERON:0001143 hepatic vein biolink:AnatomicalEntity mondo Vein that carries blood away from the liver[ZFA]. http://purl.obolibrary.org/obo/UBERON_0001143 vena hepatica|liver vein|hepatic veins|vein of liver|venae hepaticae MONDO:0004519 synovial angioma biolink:Disease mondo DOID:8274|UMLS:C1336546|NCIT:C6525 A rare hemangioma arising from synovium lining surfaces. UMLS:C1336546|DOID:8274|NCIT:C6525 http://purl.obolibrary.org/obo/MONDO_0004519 angioma of synovium|synovial hemangioma|angioma of the synovium|hemangioma of the synovium|hemangioma of layer of synovial tissue|layer of synovial tissue hemangioma|hemangioma of synovium SO:0000301 vertebrate_immune_system_gene_recombination_feature biolink:SequenceFeature mondo A feature where recombination has occurred for the purpose of generating a diversity in the immune system. http://purl.obolibrary.org/obo/SO_0000301 vertebrate immune system gene recombination feature MONDO:0004518 anterior urethra cancer biolink:Disease mondo NCIT:C7641|DOID:8272|UMLS:C0279930 A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body. DOID:8272|UMLS:C0279930|NCIT:C7641 http://purl.obolibrary.org/obo/MONDO_0004518 malignant tumor of anterior urethra|anterior urethral malignant tumor|malignant tumor of the anterior urethra|anterior urethral cancer|anterior urethra malignant neoplasm|malignant neoplasm of anterior urethra|malignant neoplasm of the anterior urethra|anterior urethra malignant tumor|anterior urethral malignant neoplasm UBERON:0001142 left renal vein biolink:AnatomicalEntity mondo A renal vein that drains the left kidney http://purl.obolibrary.org/obo/UBERON_0001142 SO:0000300 recombination_feature_of_rearranged_gene biolink:SequenceFeature mondo A location where a gene is rearranged due to recombination during mitosis or meiosis. http://purl.obolibrary.org/obo/SO_0000300 recombination feature of rearranged gene UBERON:0001145 ovarian vein biolink:AnatomicalEntity mondo A vein that carries deoxygenated blood from its corresponding ovary to inferior vena cava or one of its tributaries. http://purl.obolibrary.org/obo/UBERON_0001145 vein of gonada of female reproductive system|vein of female reproductive system gonada|female reproductive system gonad vein|vena ovarica sinistra|female reproductive system gonada vein|vena ovarica dextra|vein of female reproductive system gonad|vein of gonad of female reproductive system|gonada of female reproductive system vein|vein of ovary|gonad of female reproductive system vein|ovary vein UBERON:0001144 testicular vein biolink:AnatomicalEntity mondo A vein that carries deoxygenated blood from a single male gonad. It is the male equivalent of the ovarian vein, and is the venous counterpart of the testicular artery. It is a paired vein, with one supplying each testis. http://purl.obolibrary.org/obo/UBERON_0001144 vein of testicle|venae spermaticae|vena testicularis sinistra|testicle vein|vena testicularis dextra|vena tesicularis|spermatic vein|testicular venous tree|male gonadal vein NCBITaxon:33351 Panheteroptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33351 SO:0000342 site_specific_recombination_target_region biolink:SequenceFeature mondo A region specifically recognised by a recombinase where recombination can occur during mitosis or meiosis. http://purl.obolibrary.org/obo/SO_0000342 site specific recombination target region UBERON:0015777 transitional epithelium of prostatic urethra biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0015777 GO:0045017 glycerolipid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. http://purl.obolibrary.org/obo/GO_0045017 glycerolipid anabolism|glycerolipid biosynthesis|glycerolipid synthesis|glycerolipid formation HGNC:53 ABCC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/53 HGNC:57 ABCC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/57 HGNC:59 ABCC8 biolink:OntologyClass mondo http://identifiers.org/hgnc/59 UBERON:0001130 vertebral column biolink:AnatomicalEntity mondo Subdivision of skeletal system that consists of all the vertebra and associated skeletal elements and joints in the body[modified from VSAO]. http://purl.obolibrary.org/obo/UBERON_0001130 backbone|vertebral region|columna vertebralis|vertebral column skeleton|spine|dorsal spine|spinal column UBERON:0001136 mesothelium biolink:AnatomicalEntity mondo Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). http://purl.obolibrary.org/obo/UBERON_0001136 UBERON:0001135 smooth muscle tissue biolink:AnatomicalEntity mondo Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. http://purl.obolibrary.org/obo/UBERON_0001135 visceral muscle tissue|smooth muscle|visceral muscle|non-striated muscle|involuntary muscle|textus muscularis levis; textus muscularis nonstriatus|textus muscularis nonstriatus UBERON:0001138 superior mesenteric vein biolink:AnatomicalEntity mondo In anatomy, the superior mesenteric vein (SMV) is a blood vessel that drains blood from the small intestine. At its termination behind the neck of the pancreas, the SMV combines with the splenic vein to form the hepatic portal vein. The SMV lies to the right of the similarly named artery, the superior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001138 vena mesenterica superior|upper mesenteric vein UBERON:0001137 dorsum biolink:AnatomicalEntity mondo A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. http://purl.obolibrary.org/obo/UBERON_0001137 back of body proper|dorsal part of organism|back UBERON:0001132 parathyroid gland biolink:AnatomicalEntity mondo The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. http://purl.obolibrary.org/obo/UBERON_0001132 epithelial body|parathyroid secreting cell|parathyroid NCBITaxon:33356 Reduvioidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33356 UBERON:0001131 vertebral foramen biolink:AnatomicalEntity mondo A foramen within a vertebral element through which the spinal cord runs. It is formed by the anterior segment, and the posterior part, the vertebral arch. http://purl.obolibrary.org/obo/UBERON_0001131 vertebra neural canal|foramen vertebrale UBERON:0001134 skeletal muscle tissue biolink:AnatomicalEntity mondo Muscle tissue that consists primarily of skeletal muscle fibers. http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle system|somatic muscle|skeletal muscle UBERON:0001133 cardiac muscle tissue biolink:AnatomicalEntity mondo Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. http://purl.obolibrary.org/obo/UBERON_0001133 textus muscularis of heart muscle|muscle tissue of cardiac muscle|myocardium muscle tissue|muscle of heart muscle tissue|textus muscularis of heart myocardium|muscle tissue of muscle of heart|heart muscle muscle tissue|textus muscularis of cardiac muscle|myocardium textus muscularis|cardiac musculature|heart myocardium muscle tissue|muscle of heart textus muscularis|muscle tissue of myocardium|cardiac muscle muscle tissue|heart muscle textus muscularis|muscle tissue of heart muscle|heart myocardium textus muscularis|textus muscularis of myocardium|cardiac muscle|cardiac muscle textus muscularis|muscle tissue of heart myocardium|textus muscularis of muscle of heart NCBITaxon:33354 Cimicomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33354 MONDO:0004504 penile urethral cancer biolink:Disease mondo DOID:8223|UMLS:C1518950|NCIT:C39868 A urethra cancer that involves the penis. NCIT:C39868|DOID:8223|UMLS:C1518950 http://purl.obolibrary.org/obo/MONDO_0004504 penile urethral malignant neoplasm|urethra cancer of penis|penis urethra cancer NCBITaxon:33340 Neoptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33340 MONDO:0004503 upper clivus meningioma biolink:Disease mondo DOID:8221|NCIT:C5290|UMLS:C1336871 A meningioma that affects the upper clivus. DOID:8221|UMLS:C1336871|NCIT:C5290 http://purl.obolibrary.org/obo/MONDO_0004503 meningioma of upper clivus|meningioma of the upper clivus MONDO:0004506 microscopic breast papilloma biolink:Disease mondo UMLS:C1335390|NCIT:C36088|DOID:8225 A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic. UMLS:C1335390|DOID:8225|NCIT:C36088 http://purl.obolibrary.org/obo/MONDO_0004506 peripheral breast papilloma|microscopic breast papilloma MONDO:0004505 central breast papilloma biolink:Disease mondo UMLS:C1332896|NCIT:C36087|DOID:8224 A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge. DOID:8224|NCIT:C36087|UMLS:C1332896 http://purl.obolibrary.org/obo/MONDO_0004505 large duct breast papilloma|solitary intraductal breast papilloma UBERON:0001118 lobe of thyroid gland biolink:AnatomicalEntity mondo A lobe of tissue that is part of a thyroid gland. http://purl.obolibrary.org/obo/UBERON_0001118 thyroid lobe|thyroid gland lobe|lobuli glandulae thyroideae|lobus (glandula thyroidea)|lobus glandulae thyroideae MONDO:0004500 lung superior sulcus carcinoma biolink:Disease mondo DOID:8208|UMLS:C1336529|NCIT:C7779 A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor. NCIT:C7779|UMLS:C1336529|DOID:8208 http://purl.obolibrary.org/obo/MONDO_0004500 superior sulcus carcinoma of lung|superior sulcus carcinoma of the lung|superior sulcus lung carcinoma HGNC:61 ABCD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/61 HGNC:60 ABCC9 biolink:OntologyClass mondo http://identifiers.org/hgnc/60 MONDO:0004502 parapharyngeal meningioma biolink:Disease mondo DOID:8216|UMLS:C1335345|NCIT:C5303 UMLS:C1335345|DOID:8216|NCIT:C5303 http://purl.obolibrary.org/obo/MONDO_0004502 MONDO:0004501 fallopian tube cystadenofibroma biolink:Disease mondo NCIT:C40114|UMLS:C1517111|DOID:8211 A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. NCIT:C40114|UMLS:C1517111|DOID:8211 http://purl.obolibrary.org/obo/MONDO_0004501 cystadenofibroma of fallopian tube|fallopian tube cystadenofibroma|fallopian tube serous cystadenofibroma UBERON:0001119 right lobe of thyroid gland biolink:AnatomicalEntity mondo A lobe of thyroid gland that is in the right side of a thyroid gland. http://purl.obolibrary.org/obo/UBERON_0001119 lobus dexter (glandula thyroidea)|right thyroid lobe|thyroid gland right lobe UBERON:0015766 epithelium of duct of salivary gland biolink:AnatomicalEntity mondo A epithelium that is part of a duct of salivary gland. http://purl.obolibrary.org/obo/UBERON_0015766 epithelium of salivary duct|salivary duct epithelium|salivary ductal epithelium HGNC:67 ABCD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/67 HGNC:68 ABCD4 biolink:OntologyClass mondo http://identifiers.org/hgnc/68 NCBITaxon:33349 Neoheteroptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33349 NCBITaxon:33347 Euheteroptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33347 NCBITaxon:33345 Heteroptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33345 true bugs UBERON:0001120 left lobe of thyroid gland biolink:AnatomicalEntity mondo A lobe of thyroid gland that is in the left side of a thyroid gland. http://purl.obolibrary.org/obo/UBERON_0001120 left thyroid lobe|thyroid gland left lobe|lobus sinister (glandula thyroidea) NCBITaxon:33342 Paraneoptera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33342 Hemipteroidea|hemipteroid assemblage SO:0000325 rRNA_large_subunit_primary_transcript biolink:SequenceFeature mondo A primary transcript encoding a large ribosomal subunit RNA. http://purl.obolibrary.org/obo/SO_0000325 35S rRNA primary transcript|rRNA large subunit primary transcript NCBITaxon:33343 Prosorrhyncha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33343 Heteropterodea|bugs MONDO:0004559 malignant glandular tumor of peripheral nerve sheath biolink:Disease mondo SCTID:699659007|UMLS:C1333821|NCIT:C6560|DOID:8420|ICD9:171.9 A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium. UMLS:C1333821|SNOMEDCT:699659007|NCIT:C6560|DOID:8420 http://purl.obolibrary.org/obo/MONDO_0004559 malignant glandular tumor of the peripheral nerve sheath|malignant glandular peripheral nerve sheath neoplasm|malignant glandular tumor of peripheral nerve sheath|glandular MPNST|malignant glandular neoplasm of the peripheral nerve sheath|malignant glandular neoplasm of peripheral nerve sheath|malignant glandular schwannoma|malignant glandular peripheral nerve sheath tumor|glandular malignant peripheral nerve sheath tumor MONDO:0004558 thyroid gland macrofollicular adenoma biolink:Disease mondo UMLS:C0334329|ICDO:8334/0|NCIT:C4161|DOID:8419 A thyroid gland adenoma composed of large size follicles. NCIT:C4161|UMLS:C0334329|DOID:8419 http://purl.obolibrary.org/obo/MONDO_0004558 macrofollicular adenoma|macrofollicular adenoma (morphologic abnormality)|colloid adenoma MONDO:0004555 kidney angiomyolipoma biolink:Disease mondo UMLS:C0241961|SCTID:254921004|DOID:8411|ONCOTREE:RAML|NCIT:C3888|EFO:1000312 An angiomyolipoma arising from the kidney. UMLS:C0241961|SNOMEDCT:254921004|DOID:8411|NCIT:C3888 http://purl.obolibrary.org/obo/MONDO_0004555 angiomyolipoma of kidney|kidney angiomyolipoma|angiomyolipoma of the kidney|renal angiomyolipoma|RAML MONDO:0004554 childhood kidney angiomyolipoma biolink:Disease mondo DOID:8410|UMLS:C1333000|NCIT:C6565 An angiomyolipoma occurring in childhood. NCIT:C6565|DOID:8410|UMLS:C1333000 http://purl.obolibrary.org/obo/MONDO_0004554 pediatric kidney angiomyolipoma|kidney angiomyolipoma of childhood|pediatric kidney angiomyolipoma|pediatric renal angiomyolipoma|childhood renal angiomyolipoma MONDO:0004557 congenital fibrosarcoma biolink:Disease mondo ONCOTREE:IFS|UMLS:C0334459|SCTID:403996004|NCIT:C4244|ICDO:8814/3|ICD9:171.9|DOID:8418 A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. NCIT:C4244|DOID:8418|UMLS:C0334459|SNOMEDCT:403996004 http://purl.obolibrary.org/obo/MONDO_0004557 IFS|congenital fibrosarcoma|infantile fibrosarcoma (morphologic abnormality)|infantile fibrosarcoma|infantile fibrosarcoma (congenital fibrosarcoma) MONDO:0004556 carcinoma arising in nasal papillomatosis biolink:Disease mondo DOID:8415|NCIT:C27389|UMLS:C1332840 A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose. UMLS:C1332840|NCIT:C27389|DOID:8415 http://purl.obolibrary.org/obo/MONDO_0004556 carcinoma arising in nasal papillomatosis MONDO:0004551 Meckel diverticulitis biolink:Disease mondo UMLS:C0267497|NCIT:C27300|SCTID:48241004|DOID:8408 Inflammation of a congenital diverticulum of the lower intestine. NCIT:C27300|SNOMEDCT:48241004|DOID:8408|UMLS:C0267497 http://purl.obolibrary.org/obo/MONDO_0004551 inflammation of Meckel's diverticulum|Meckel diverticulitis|Meckel's diverticulum inflammation|Meckel's diverticulitis MONDO:0004550 malignant cornea melanoma biolink:Disease mondo NCIT:C4553|DOID:8400|UMLS:C0346367 A melanoma within the cornea of the eye. DOID:8400|NCIT:C4553|UMLS:C0346367 http://purl.obolibrary.org/obo/MONDO_0004550 malignant melanoma of cornea|malignant melanoma of the cornea|melanoma of cornea|cornea melanoma|melanoma of the cornea|malignant cornea melanoma|cornea melanoma (disease)|melanoma (disease) of cornea|corneal melanoma|malignant corneal melanoma MONDO:0004553 extrinsic allergic alveolitis biolink:Disease mondo DOID:841|NCIT:C34369|ICD10:J67.9|ICD9:495|MESH:D000542|COHD:444084|ICD9:495.9 An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis. NCIT:C34369|DOID:841|MESH:D000542 http://purl.obolibrary.org/obo/MONDO_0004553 allergic form of pneumonitis|alveolitis|allergic pneumonitis|extrinsic allergic alveolitis|hypersensitivity pneumonitis MONDO:0004552 microinvasive cervical squamous cell carcinoma biolink:Disease mondo UMLS:C1333370|DOID:8409|NCIT:C36094 A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low. DOID:8409|NCIT:C36094|UMLS:C1333370 http://purl.obolibrary.org/obo/MONDO_0004552 early invasive cervical squamous cell carcinoma MONDO:0016548 megacystis-megaureter syndrome biolink:Disease mondo Orphanet:238637|ICD10:Q62.7|SCTID:253904001 Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. ORPHA:238637|SNOMEDCT:253904001|UMLS:C0431752 http://purl.obolibrary.org/obo/MONDO_0016548 megaureter-megacystis syndrome ordo_disease UBERON:0001194 splenic artery biolink:AnatomicalEntity mondo An artery that supplies the spleen. http://purl.obolibrary.org/obo/UBERON_0001194 lienal artery|arteria splenica|arteria lienalis MONDO:0016549 primary megaureter, adult-onset form biolink:Disease mondo Orphanet:238642|ICD10:Q62.2|UMLS:CN201632 ORPHA:238642|UMLS:CN201632 http://purl.obolibrary.org/obo/MONDO_0016549 ordo_clinical_subtype UBERON:0001193 hepatic artery biolink:AnatomicalEntity mondo An artery that supplies the liver. http://purl.obolibrary.org/obo/UBERON_0001193 arteria hepatica|arteria hepatica propria UBERON:0001196 middle colic artery biolink:AnatomicalEntity mondo The middle colic artery is a branch of the superior mesenteric artery that mostly supplies the transverse colon. It arises just below the pancreas, and, passing downward and forward between the layers of the transverse mesocolon, divides into two branches: right and left. The right branch anastomoses with the right colic artery The left branch anastomoses with the left colic artery, a branch of the inferior mesenteric artery. The arches thus formed are placed about two fingers' breadth from the transverse colon, to which they distribute branches. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001196 arteria colica media MONDO:0016544 IgG4-related mesenteritis biolink:Disease mondo ICD10:K65.8|SCTID:1092381000119100|GARD:0008169|Orphanet:238593 Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate). SNOMEDCT:1092381000119100|ORPHA:238593 http://purl.obolibrary.org/obo/MONDO_0016544 liposclerotic mesenteritis|mesenteric panniculitis|isolated mesenteric lipodystrophy|mesenteric lipogranuloma|sclerosing mesenteritis|lipomatous mesenteritis ordo_disease UBERON:0001190 ovarian artery biolink:AnatomicalEntity mondo An artery that supplies an ovary. http://purl.obolibrary.org/obo/UBERON_0001190 arteria ovarica|ovarian arterial tree MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome biolink:Disease mondo Orphanet:2386|GARD:0003232|UMLS:CN201627 Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. ORPHA:2386|UMLS:CN201627 http://purl.obolibrary.org/obo/MONDO_0016545 leukoencephalopathy palmoplantar keratoderma ordo_disease|gard_rare MONDO:0016546 primary orthostatic tremor biolink:Disease mondo ICD10:G25.2|MESH:C536418|SCTID:715902009|GARD:0008563|Orphanet:238606 Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing. MESH:C536418|ORPHA:238606|UMLS:C0878578|SNOMEDCT:715902009 http://purl.obolibrary.org/obo/MONDO_0016546 pot|orthostatic tremor, primary|shaky leg syndrome|OT gard_rare|ordo_disease MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation biolink:Disease mondo Orphanet:238613|UMLS:CN201629|ICD10:Q87.3 ORPHA:238613|UMLS:CN201629 http://purl.obolibrary.org/obo/MONDO_0016547 ordo_etiological_subtype UBERON:0001191 common iliac artery biolink:AnatomicalEntity mondo The common iliac arteries are two large arteries, about 4cm long in adults but more than a centimetre in diameter, that originate from the aortic bifurcation. The arteries run inferolaterally, along the medial border of the psoas muscles to the pelvic brim, where they bifurcate into the external iliac artery and internal iliac artery. The common iliac artery, and all of its branches, exist as paired structures (that is to say, there is one on the left side and one on the right). The distribution of the common iliac artery is basically the pelvis and lower limb on the corresponding side. Both common iliac arteries are accompanied along their course by common iliac veins. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001191 common iliac arterial tree|arteria iliaca communis MONDO:0016540 congenital secondary polycythemia biolink:Disease mondo ICD10:D75.1|Orphanet:238536 ORPHA:238536 http://purl.obolibrary.org/obo/MONDO_0016540 congenital secondary erythrocytosis ordo_group_of_disorders MONDO:0016541 acquired secondary polycythemia biolink:Disease mondo ICD10:D75.1|Orphanet:238547 An instance of secondary polycythemia that is acquired during the lifetime of the individual. ORPHA:238547 http://purl.obolibrary.org/obo/MONDO_0016541 acquired secondary erythrocytosis|acquired secondary polycythemia ordo_group_of_disorders MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome biolink:Disease mondo Orphanet:238569|ICD10:K52.8|GARD:0013016|UMLS:CN201623 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. UMLS:CN201623|ORPHA:238569 http://purl.obolibrary.org/obo/MONDO_0016542 autosomal recessive early-onset IBD|autosomal recessive early-onset inflammatory bowel disease|IL10-related early-onset IBD|IL10-related early-onset inflammatory bowel disease ordo_disease MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency biolink:Disease mondo ICD10:E70.1|UMLS:C0751435|GARD:0007751|Orphanet:238583|SCTID:68528007|DC:0000202 Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. UMLS:C0751436|UMLS:C0751435|SNOMEDCT:68528007|ORPHA:238583 http://purl.obolibrary.org/obo/MONDO_0016543 hyperphenylalaninemia|hyperphenylalaninemia due to BH4 deficiency|hyperphenylalaninemia due to tetrahydrobiopterin deficiency|non-phenylketonuric hyperphenylalaninemia ordo_disease UBERON:0001197 ileocolic artery biolink:AnatomicalEntity mondo The Ileocolic Artery is the lowest branch arising from the concavity of the superior mesenteric artery. It passes downward and to the right behind the peritoneum toward the right iliac fossa, where it divides into a superior and an inferior branch; the inferior anastomoses with the end of the superior mesenteric artery, the superior with the right colic artery. Supplies the cecum, ileum, and appendix. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001197 arteria ileocolica UBERON:0001199 mucosa of stomach biolink:AnatomicalEntity mondo The mucosal layer that lines the stomach. http://purl.obolibrary.org/obo/UBERON_0001199 stomach organ mucosa|stomach mucous membrane|mucosa of organ of stomach|ventriculus mucosa|ventriculus organ mucosa|tunica mucosa gastris|organ mucosa of ventriculus|gastric mucous membrane|mucous membrane of ventriculus|ventriculus mucosa of organ|tunica mucosa (gaster)|gastric mucosa|mucosa of ventriculus|mucosa of organ of ventriculus|stomach mucosa of organ|tunica mucosa gastricae|mucous membrane of stomach|ventriculus mucous membrane|organ mucosa of stomach|Magenschleimhaut|stomach mucosa UBERON:0013161 left lateral ventricle biolink:AnatomicalEntity mondo A telencephalic ventricle that is in_the_left_side_of a telencephalon. http://purl.obolibrary.org/obo/UBERON_0013161 left telencephalic ventricle MONDO:0004569 brachial plexus neuropathy from injury biolink:Disease mondo DOID:8443|ICD9:353.0|UMLS:C0006091 UMLS:C0006091|DOID:8443 http://purl.obolibrary.org/obo/MONDO_0004569 brachial plexus lesions|brachial plexus lesion UBERON:0013162 right lateral ventricle biolink:AnatomicalEntity mondo A telencephalic ventricle that is in_the_right_side_of a telencephalon. http://purl.obolibrary.org/obo/UBERON_0013162 right telencephalic ventricle MONDO:0004566 postgastrectomy syndrome biolink:Disease mondo UMLS:C0032763|ICD9:564.2|MESH:D011178|ICD10:K91.1|SCTID:80193009|DOID:8439 Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies. DOID:8439|UMLS:C0032763|SNOMEDCT:80193009|MESH:D011178 http://purl.obolibrary.org/obo/MONDO_0004566 postgastric surgery syndrome MONDO:0004565 intestinal obstruction biolink:Disease mondo UMLS:C0021843|DOID:8437|COHD:193518|ICD10:K56.60|MESH:D007415|ICD9:560.89|ICD10:K56.69|NCIT:C9175|ICD9:560.9|SCTID:81060008 Blockage of the normal flow of the intestinal contents within the bowel. MESH:D007415|UMLS:C0021843|DOID:8437|NCIT:C9175|SNOMEDCT:81060008 http://purl.obolibrary.org/obo/MONDO_0004565 bowel obstruction MONDO:0004568 paralytic ileus (disease) biolink:Disease mondo ICD9:560.1|DOID:8442|COHD:192357|NCIT:C93045|UMLS:C0030446|SCTID:55525008|HP:0002590|ICD10:K56.0 An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction. DOID:8442|SNOMEDCT:55525008|NCIT:C93045|UMLS:C0030446 http://purl.obolibrary.org/obo/MONDO_0004568 paralytic ileus MONDO:0004567 ileus biolink:Disease mondo DOID:8440|SCTID:710572000|MESH:D045823|NCIT:C37979|UMLS:C1258215 Decrease in peristalsis in the absence of a mechanical bowel obstruction. UMLS:C1258215|DOID:8440|MESH:D045823|SNOMEDCT:710572000|NCIT:C37979 http://purl.obolibrary.org/obo/MONDO_0004567 ileus of intestine UBERON:0013160 epithalamus ventricular layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013160 ventricular layer epithalamus|ventricular layer of epithalamus MONDO:0004562 breast apocrine carcinoma in situ biolink:Disease mondo UMLS:C1332315|DOID:8428|NCIT:C5140 A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation. NCIT:C5140|DOID:8428|UMLS:C1332315 http://purl.obolibrary.org/obo/MONDO_0004562 apocrine carcinoma in situ of breast|apocrine carcinoma in situ of the breast|apocrine breast carcinoma in situ MONDO:0004561 retinal melanoma biolink:Disease mondo NCIT:C8601|UMLS:C0853394|DOID:8427|SCTID:423673009 A melanoma affecting the retinal portion of the eye. --2003 UMLS:C0853394|DOID:8427|SNOMEDCT:423673009|NCIT:C8601 http://purl.obolibrary.org/obo/MONDO_0004561 retinal melanoma|melanoma (disease) of retina|malignant retinal melanoma|retina melanoma|malignant melanoma of retina|malignant melanoma of the retina|melanoma of retina|retina melanoma (disease)|melanoma of the retina MONDO:0004564 thyroid malformation biolink:Disease mondo NCIT:C27331|DOID:8433 An anatomic abnormality of the thyroid gland. NCIT:C27331|DOID:8433 http://purl.obolibrary.org/obo/MONDO_0004564 thyroid gland malformation MONDO:0004563 physiological polycythemia biolink:Disease mondo NCIT:C27311|UMLS:C0856817|DOID:8431 Polycythemia that is not pathologic. NCIT:C27311|DOID:8431|UMLS:C0856817 http://purl.obolibrary.org/obo/MONDO_0004563 UBERON:0013165 epiglottic vallecula biolink:AnatomicalEntity mondo A depression in front of the epiglottis, in which food is temporarily gathered as the animal chews. http://purl.obolibrary.org/obo/UBERON_0013165 vallecula epiglottica|vallecula|vallecula of epiglottis MONDO:0004560 follicular infundibulum tumor biolink:Disease mondo ICD9:239.2|NCIT:C4469|UMLS:C0346006|SCTID:254694002|DOID:8426 NCIT:C4469|DOID:8426|UMLS:C0346006|SNOMEDCT:254694002 http://purl.obolibrary.org/obo/MONDO_0004560 neoplasm of the follicular infundibulum|basal cell hamartoma with follicular differentiation|follicular infundibulum neoplasm|tumor of the follicular infundibulum|tumor of follicular infundibulum MONDO:0016537 lymphoproliferative syndrome biolink:Disease mondo OMIMPS:308240|UMLS:CN201619|Orphanet:238510|MESH:D008232|DOID:0060704|SCTID:277466009|NCIT:C9308 A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). UMLS:CN201619|NCIT:C9308|MESH:D008232|ORPHA:238510|DOID:0060704|SNOMEDCT:277466009 http://purl.obolibrary.org/obo/MONDO_0016537 lymphoproliferative disorder ordo_group_of_disorders UBERON:0001183 inferior mesenteric artery biolink:AnatomicalEntity mondo Mesenteric artery that supplies the large intestine from the left colic (or splenic) flexure to the upper part of the rectum, which includes the descending colon, the sigmoid colon, and part of the rectum. Proximally, its territory of distribution overlaps (forms a watershed) with the middle colic artery, and therefore the superior mesenteric artery. The SMA and IMA anastomose via the marginal artery (artery of Drummond). The territory of distribution of the IMA is more or less equivalent to the embryonic hindgut. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001183 arteria mesenterica inferior|inferior mesenteric arterial tree|IMA MONDO:0016538 hypotonia-cystinuria syndrome type 1 biolink:Disease mondo ICD10:E72.0|Orphanet:238517|UMLS:CN226952 ORPHA:238517|UMLS:CN226952 http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria type 1 syndrome ordo_group_of_disorders UBERON:0001182 superior mesenteric artery biolink:AnatomicalEntity mondo Mesenteric artery that supplies the whole length of the small intestine except the superior part of the duodenum. It also supplies the cecum and the ascending part of the colon and about half the transverse part of the colon. It arises from the anterior surface of the aorta below the celiac artery at the level of the first lumbar vertebra. http://purl.obolibrary.org/obo/UBERON_0001182 superior mesenteric arterial tree|arteria mesenterica superior MONDO:0016539 atypical hypotonia-cystinuria syndrome biolink:Disease mondo UMLS:CN201620|Orphanet:238523|ICD10:E72.0 Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). UMLS:CN201620|ORPHA:238523 http://purl.obolibrary.org/obo/MONDO_0016539 atypical HCS ordo_disease UBERON:0001185 right renal artery biolink:AnatomicalEntity mondo Renal artery that supplies the right kidney http://purl.obolibrary.org/obo/UBERON_0001185 right renal arterial tree UBERON:0001184 renal artery biolink:AnatomicalEntity mondo One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. http://purl.obolibrary.org/obo/UBERON_0001184 arteria renalis|renal arterial tree|renal arteries MONDO:0016533 apolipoprotein A-II amyloidosis biolink:Disease mondo Orphanet:238269|ICD10:E85.0|UMLS:CN201610 ORPHA:238269|UMLS:CN201610 http://purl.obolibrary.org/obo/MONDO_0016533 familial amyloid nephropathy due to apolipoprotein A-II variant|AApoAII amyloidosis|hereditary renal amyloidosis due to apolipoprotein A-II variant|hereditary amyloid nephropathy due to apolipoprotein A-II variant|familial renal amyloidosis due to apolipoprotein A-II variant ordo_clinical_subtype MONDO:0016534 infundibulo-neurohypophysitis biolink:Disease mondo Orphanet:238305|ICD10:E23.6 ORPHA:238305 http://purl.obolibrary.org/obo/MONDO_0016534 ordo_disease MONDO:0016535 hypohidrotic ectodermal dysplasia biolink:Disease mondo NCIT:C84562|SCTID:239007005|HP:0007607|Orphanet:238468|ICD10:Q82.4|GARD:0000076|DOID:14793 Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency). ORPHA:238468|DOID:14793|SNOMEDCT:239007005|NCIT:C84562 http://purl.obolibrary.org/obo/MONDO_0016535 anhidrotic ectodermal dysplasia 1|HED|ectodermal dysplasia 1, Anhydrotic|hypohidrotic X-linked ectodermal dysplasia|CST syndrome|EDA|anhidrotic ectodermal dysplasia 3|ectodermal dysplasia anhidrotic|anhidrotic ectodermal dysplasia|Christ-Siemens-Touraine syndrome|ectodermal dysplasia, hypohidrotic ordo_disease|gard_rare MONDO:0016536 autosomal recessive lymphoproliferative disease biolink:Disease mondo Orphanet:238505|ICD10:D47.9 Autosomal recessive lymphoproliferative disease is a rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia. ORPHA:238505 http://purl.obolibrary.org/obo/MONDO_0016536 CD27 deficiency ordo_disease MONDO:0016530 laryngocele biolink:Disease mondo NCIT:C97062|MESH:D059608|Orphanet:2372|MedDRA:10023885|SCTID:51523009|ICD10:Q31.3|GARD:0003191|UMLS:C0265761|ICD9:748.3 A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck. UMLS:C0265761|NCIT:C97062|MESH:D059608|SNOMEDCT:51523009|ORPHA:2372|MEDDRA:10023885 http://purl.obolibrary.org/obo/MONDO_0016530 gard_rare|ordo_malformation_syndrome MONDO:0016531 digestive duplication biolink:Disease mondo Orphanet:238|ICD10:Q45.8 ORPHA:238 http://purl.obolibrary.org/obo/MONDO_0016531 ordo_morphological_anomaly MONDO:0016532 Lennox-Gastaut syndrome biolink:Disease mondo ICD10:G40.4|GARD:0009912|OMIM:606369|MedDRA:10048816|DOID:0050561|MESH:D065768|SCTID:230418006|Orphanet:2382|UMLS:C0238111|NCIT:C84816 Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. MEDDRA:10048816|DOID:0050561|http://identifiers.org/omim/606369|MESH:C535500|MESH:D065768|SNOMEDCT:230418006|NCIT:C84816|UMLS:C0238111|ORPHA:2382 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox syndrome|LGS|macrocephaly and epileptic encephalopathy|epileptic encephalopathy Lennox-Gastaut type|encephalopathy of childhood ordo_disease|gard_rare UBERON:0001187 testicular artery biolink:AnatomicalEntity mondo One of a pair of arteries that is a branch of the abdominal aorta that supplies blood to a male gonad. http://purl.obolibrary.org/obo/UBERON_0001187 internal spermatic|spermatic vessels|internal spermatic artery|internal spermatic arteries|internal spermatic vessels|spermatic artery|spermatic arteries|arteria testicularis|testicular arterial tree|testicular arteries UBERON:0001186 left renal artery biolink:AnatomicalEntity mondo Renal artery that supplies the left kidney http://purl.obolibrary.org/obo/UBERON_0001186 left renal arterial tree UBERON:0001189 left testicular artery biolink:AnatomicalEntity mondo A testicular artery that supplies a left testicle. http://purl.obolibrary.org/obo/UBERON_0001189 trunk of left testicular arterial tree|left spermatic artery UBERON:0001188 right testicular artery biolink:AnatomicalEntity mondo A testicular artery that supplies a right testicle. http://purl.obolibrary.org/obo/UBERON_0001188 trunk of right testicular arterial tree|right spermatic artery HGNC:90 ACADS biolink:OntologyClass mondo http://identifiers.org/hgnc/90 MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma biolink:Disease mondo DOID:8339|UMLS:C1516422|NCIT:C40203|ONCOTREE:ICEMU A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma. DOID:8339|UMLS:C1516422|NCIT:C40203 http://purl.obolibrary.org/obo/MONDO_0004537 intestinal type mucinous carcinoma|cervical mucinous adenocarcinoma, intestinal-type|cervical mucinous adenocarcinoma, intestinal variant UBERON:0013150 future brain vesicle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013150 brain vesicle|secondary brain vesicle|primary brain vesicle|primitive brain vesicle|early brain vesicle UBERON:0013151 choroidal artery biolink:AnatomicalEntity mondo One of two arteries (anterior and posterior choroidal artery) that supply blood to the choroid plexus, optic tract, hippocampus, globus pallidus, and other various brain regions. http://purl.obolibrary.org/obo/UBERON_0013151 choroid artery|artery of choroid plexus MONDO:0004536 obsolete villoglandular variant cervical mucinous adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004536 MONDO:0004539 aortic malignant tumor biolink:Disease mondo UMLS:C1334560|NCIT:C5375|DOID:8352 A cancer that involves the aorta. UMLS:C1334560|NCIT:C5375|DOID:8352 http://purl.obolibrary.org/obo/MONDO_0004539 aortic malignant neoplasm|cancer of aorta|malignant aorta neoplasm|aorta cancer|malignant neoplasm of aorta|malignant neoplasm of the aorta|malignant aortic neoplasm|malignant tumor of the aorta|malignant tumor of aorta HGNC:92 ACADVL biolink:OntologyClass mondo http://identifiers.org/hgnc/92 MONDO:0004538 endocervical type cervical mucinous adenocarcinoma biolink:Disease mondo DOID:8340|NCIT:C40202|UMLS:C1516421 A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. NCIT:C40202|DOID:8340|UMLS:C1516421 http://purl.obolibrary.org/obo/MONDO_0004538 cervical mucinous adenocarcinoma, endocervical type|cervical adenocarcinoma, endocervical type HGNC:91 ACADSB biolink:OntologyClass mondo http://identifiers.org/hgnc/91 MONDO:0004533 perineural angioma biolink:Disease mondo NCIT:C6526|UMLS:C1335382|DOID:8331 A hemangioma arising from perineural tissues. NCIT:C6526|UMLS:C1335382|DOID:8331 http://purl.obolibrary.org/obo/MONDO_0004533 perineural hemangioma HGNC:94 ACAT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/94 MONDO:0004532 auditory system cancer biolink:Disease mondo DOID:833 A malignant neoplasm involving the auditory system DOID:833 http://purl.obolibrary.org/obo/MONDO_0004532 auditory system cancer|malignant auditory system neoplasm|malignant neoplasm of auditory system|cancer of auditory system HGNC:93 ACAT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/93 NCBITaxon:33392 Holometabola organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33392 Endopterygota MONDO:0004535 childhood choriocarcinoma of the ovary biolink:Disease mondo UMLS:C1332987|DOID:8336|NCIT:C6549 A non-gestational choriocarcinoma that arises from the ovary and occurs in children. UMLS:C1332987|NCIT:C6549|DOID:8336 http://purl.obolibrary.org/obo/MONDO_0004535 pediatric ovarian choriocarcinoma|pediatric choriocarcinoma of ovary|pediatric choriocarcinoma of the ovary|childhood ovarian choriocarcinoma|pediatric choriocarcinoma of ovary|choriocarcinoma of ovary of childhood|childhood choriocarcinoma of ovary MONDO:0004534 microglandular adenosis of breast biolink:Disease mondo NCIT:C5199|DOID:8335|UMLS:C1334753 A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia. NCIT:C5199|DOID:8335|UMLS:C1334753 http://purl.obolibrary.org/obo/MONDO_0004534 breast microglandular adenosis|microglandular adenosis of the breast HGNC:95 SLC33A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/95 UBERON:0013158 foregut-midgut junction gland biolink:AnatomicalEntity mondo A gland that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/UBERON_0013158 gland of foregut-midgut junction UBERON:0013159 epithalamus mantle layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013159 mantle layer epithalamus|mantle layer of epithalamus MONDO:0004531 sclerosing adenosis of breast biolink:Disease mondo SCTID:105261000119101|DOID:8310|NCIT:C5205|UMLS:C1335931 Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present. SNOMEDCT:105261000119101|NCIT:C5205|DOID:8310|UMLS:C1335931 http://purl.obolibrary.org/obo/MONDO_0004531 sclerosing breast adenosis|sclerosing adenosis of the breast|sclerosing adenosis|breast sclerosing adenosis MONDO:0004530 early invasive cervical adenocarcinoma biolink:Disease mondo NCIT:C36096|DOID:8307|UMLS:C1333369 A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent. DOID:8307|NCIT:C36096|UMLS:C1333369 http://purl.obolibrary.org/obo/MONDO_0004530 cervical microinvasive adenocarcinoma MONDO:0016519 obsolete keratosis follicularis spinulosa decalvans biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016519 GO:0045058 T cell selection biolink:OntologyClass mondo The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. http://purl.obolibrary.org/obo/GO_0045058 T-lymphocyte selection|T-cell selection|T lymphocyte selection UBERON:0013156 1st arch mandibular endoderm biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013156 endoderm of mandibular component UBERON:0001172 hepatic acinus biolink:AnatomicalEntity mondo The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. http://purl.obolibrary.org/obo/UBERON_0001172 portal acinus|liver acinus MONDO:0016526 trisomy 9p biolink:Disease mondo ICD10:Q92.2|Orphanet:236|UMLS:C0265428 Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. UMLS:C0265428|ORPHA:236 http://purl.obolibrary.org/obo/MONDO_0016526 Duplication of the short arm of chromosome 9|Duplication 9p|trisomy of the short arm of chromosome 9|trisomy type 9p ordo_malformation_syndrome MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency biolink:Disease mondo GARD:0003159|ICD10:E74.4|Orphanet:2364|MESH:C580233 ORPHA:2364|MESH:C580233 http://purl.obolibrary.org/obo/MONDO_0016527 lactate dehydrogenase deficiency|glycogenosis due to lactate dehydrogenase deficiency|GSD due to lactate dehydrogenase deficiency|LDH deficiency ordo_disease UBERON:0001171 portal lobule biolink:AnatomicalEntity mondo The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. http://purl.obolibrary.org/obo/UBERON_0001171 MONDO:0016528 limb body wall complex biolink:Disease mondo SCTID:716106000|Orphanet:2369|UMLS:CN201594|ICD10:Q87.8|GARD:0003251|UMLS:C4274839 Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts. ORPHA:2369|UMLS:C4274839|UMLS:CN201594|SNOMEDCT:716106000 http://purl.obolibrary.org/obo/MONDO_0016528 body stalk anomaly|short umbilical cord syndrome|aplasia of the cord|limb-body wall complex|umbilical cord, short|Cyllosomas|LBWC syndrome ordo_malformation_syndrome|gard_rare UBERON:0001174 common bile duct biolink:AnatomicalEntity mondo the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct http://purl.obolibrary.org/obo/UBERON_0001174 ductus choledochus|ductus choledochus (biliaris) MONDO:0016529 duplication of urethra biolink:Disease mondo ICD10:Q64.7|GARD:0001975|ICD9:753.8|Orphanet:237|SCTID:69015003 Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. UMLS:C0266348|ORPHA:237|SNOMEDCT:69015003 http://purl.obolibrary.org/obo/MONDO_0016529 urethral duplication ordo_morphological_anomaly|gard_rare UBERON:0001173 biliary tree biolink:AnatomicalEntity mondo A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. http://purl.obolibrary.org/obo/UBERON_0001173 biliary tract MONDO:0016522 Kousseff syndrome biolink:Disease mondo GARD:0004752|MESH:C537223|Orphanet:2351|ICD10:Q87.8|UMLS:C2931444|SCTID:726083008 Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. UMLS:C2931444|SNOMEDCT:726083008|ORPHA:2351|MESH:C537223 http://purl.obolibrary.org/obo/MONDO_0016522 sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck|sacral meningocele-conotruncal heart defects syndrome|sacral meningocele conotruncal heart defects ordo_malformation_syndrome MONDO:0016523 bronchogenic cyst (disease) biolink:Disease mondo ICD10:J98.4|Orphanet:2357|HP:0100730|MESH:D001994|MedDRA:10064585|GARD:0001025 Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum. MEDDRA:10064585|MESH:D001994|UMLS:C0006281|ORPHA:2357 http://purl.obolibrary.org/obo/MONDO_0016523 bronchogenic cyst ordo_morphological_anomaly MONDO:0016524 congenital vascular bone syndrome biolink:Disease mondo Orphanet:235832 An alteration in limb growth caused by congenital vascular malformations in childhood ORPHA:235832 http://purl.obolibrary.org/obo/MONDO_0016524 ordo_group_of_disorders UBERON:0001170 mesentery of small intestine biolink:AnatomicalEntity mondo The peritoneum responsible for connecting the jejunum and ileum (parts of the small intestine) to the back wall of the abdomen. Between the two sheets of peritoneum are blood vessels, lymph vessels, and nerves. This allows these parts of the small intestine to move relatively freely within the abdominopelvic cavity. The brain, however, cannot map sensation accurately, so sensation is usually referred to the midline, an example of referred pain[WP]. http://purl.obolibrary.org/obo/UBERON_0001170 mesentery (proper)|mesentery proper|small intestinal mesentery|small intestine mesentery MONDO:0016525 familial hyperaldosteronism biolink:Disease mondo Orphanet:371861|UMLS:C3713420|MESH:C580087|UMLS:CN229602|SCTID:703231005|ICD10:E26.0|Orphanet:235936 Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. UMLS:C3713420|MESH:C580087|SNOMEDCT:703231005|ORPHA:235936|ORPHA:371861|UMLS:CN229602 http://purl.obolibrary.org/obo/MONDO_0016525 genetic hyperaldosteronism|hereditary hyperaldosteronism|FH ordo_group_of_disorders UBERON:0001179 peritoneal cavity biolink:AnatomicalEntity mondo Anatomical cavity bounded by visceral and parietal peritoneum http://purl.obolibrary.org/obo/UBERON_0001179 cavitas peritonealis|saccus serosus peritonei MONDO:0016520 isolated Klippel-Feil syndrome biolink:Disease mondo Orphanet:2345|COHD:433585|ICD10:Q76.1 Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae. ORPHA:2345 http://purl.obolibrary.org/obo/MONDO_0016520 Klippel-Feil sequence|congenital cervical vertebral fusion|congenital fused cervical segments|Klippel-Feil malformation|nonsyndromic Klippel-Feil syndrome ordo_malformation_syndrome MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome biolink:Disease mondo ICD10:E03.1|SCTID:716338001|Orphanet:2349 Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism. SNOMEDCT:716338001|ORPHA:2349 http://purl.obolibrary.org/obo/MONDO_0016521 Kocher-Debré-Semelaigne syndrome|Kocher-DebrC)-Semelaigne syndrome|Hoffman syndrome ordo_disease UBERON:0001176 right hepatic duct biolink:AnatomicalEntity mondo The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/UBERON_0001176 ductus hepaticus dexter GO:0070013 intracellular organelle lumen biolink:OntologyClass mondo An organelle lumen that is part of an intracellular organelle. http://purl.obolibrary.org/obo/GO_0070013 MONDO:0004529 non-ossifying fibromyxoid tumor biolink:Disease mondo NCIT:C6583|DOID:8305|UMLS:C1335063 A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present. NCIT:C6583|UMLS:C1335063|DOID:8305 http://purl.obolibrary.org/obo/MONDO_0004529 nonossifying fibromyxoma|nonossifying fibromyxoid neoplasm|nonossifying fibromyxoid tumor UBERON:0001175 common hepatic duct biolink:AnatomicalEntity mondo Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. http://purl.obolibrary.org/obo/UBERON_0001175 ductus hepaticus communis|hepatic duct GO:0070011 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0070011 UBERON:0001178 visceral peritoneum biolink:AnatomicalEntity mondo The inner layer of peritoneum that is wrapped around organs located inside the intraperitoneal space. http://purl.obolibrary.org/obo/UBERON_0001178 visceral serous membrane of peritoneum UBERON:0001177 left hepatic duct biolink:AnatomicalEntity mondo The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/UBERON_0001177 ductus hepaticus sinister MONDO:0004548 adult type testicular granulosa cell tumor biolink:Disease mondo NCIT:C39946|UMLS:C1515284|DOID:8394 A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases. DOID:8394|NCIT:C39946|UMLS:C1515284 http://purl.obolibrary.org/obo/MONDO_0004548 adult testicular granulosa cell tumor|adult type testicular granulosa cell tumor MONDO:0004547 reticular pattern testicular yolk sac tumor biolink:Disease mondo DOID:8392|NCIT:C39923|UMLS:C1515308 A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance. NCIT:C39923|DOID:8392|UMLS:C1515308 http://purl.obolibrary.org/obo/MONDO_0004547 testicular yolk Sac tumor, reticular pattern|testicular yolk Sac tumor, microcystic pattern UBERON:0013140 systemic vein biolink:AnatomicalEntity mondo Any vein within the general circulation that transports blood back to the right atrium of the heart. http://purl.obolibrary.org/obo/UBERON_0013140 systemic venous tree organ part MONDO:0004549 cork-handlers' disease biolink:Disease mondo ICD10:J67.3|ICD9:495.3|UMLS:C0152108|DOID:840|SCTID:13394002|COHD:443890 An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. SNOMEDCT:13394002|DOID:840|UMLS:C0152108 http://purl.obolibrary.org/obo/MONDO_0004549 cork-handlers' disease or lung|Suberosis|cork-handlers' lung MONDO:0004544 chordoid meningioma biolink:Disease mondo EFO:1000176|ONCOTREE:CHOM|UMLS:C1370510|DOID:8368|NCIT:C6908 A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma. UMLS:C1370510|NCIT:C6908|DOID:8368 http://purl.obolibrary.org/obo/MONDO_0004544 chordoid meningioma|meningioma, chordoid (morphologic abnormality)|CHOM|meningioma, chordoid MONDO:0004543 enteric pattern testicular yolk sac tumor biolink:Disease mondo NCIT:C39932|DOID:8362|UMLS:C1515304 A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands. DOID:8362|NCIT:C39932|UMLS:C1515304 http://purl.obolibrary.org/obo/MONDO_0004543 testicular yolk Sac tumor, enteric pattern GO:0045061 thymic T cell selection biolink:OntologyClass mondo The process of T cell selection that occurs in the thymus. http://purl.obolibrary.org/obo/GO_0045061 thymic T-cell selection|thymic T lymphocyte selection|thymic T-lymphocyte selection MONDO:0004546 lumbar plexus neoplasm biolink:Disease mondo UMLS:C1334437|DOID:8389|NCIT:C5824 A neoplasm (disease) that involves the lumbar nerve plexus. DOID:8389|NCIT:C5824|UMLS:C1334437 http://purl.obolibrary.org/obo/MONDO_0004546 neoplasm of lumbar plexus|lumbar plexus tumor|tumor of lumbar nerve plexus|lumbar plexus neoplasms|lumbar nerve plexus neoplasm (disease)|tumor of the lumbar plexus|neoplasm of lumbar nerve plexus|lumbar nerve plexus tumor|tumor of lumbar plexus|lumbar nerve plexus neoplasm|neoplasm of the lumbar plexus MONDO:0004545 adult malignant schwannoma biolink:Disease mondo UMLS:C0278622|DOID:8369|NCIT:C7814 A malignant peripheral nerve sheath tumor occurring during adulthood. UMLS:C0278622|NCIT:C7814|DOID:8369 http://purl.obolibrary.org/obo/MONDO_0004545 malignant peripheral nerve sheath tumor|adult malignant neurilemmoma|adult childhood malignant schwannoma|adult malignant neoplasm of the peripheral nerve sheath|adult malignant schwannoma|adult malignant neoplasm of peripheral nerve sheath|adult malignant peripheral nerve sheath tumor|childhood malignant schwannoma of adults|adult MPNST|adult malignant peripheral nerve sheath neoplasm|adult malignant tumor of the peripheral nerve sheath|adult malignant tumor of peripheral nerve sheath MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor biolink:Disease mondo NCIT:C6561|DOID:8353|SCTID:404038007|EFO:1000245|UMLS:C1321427 A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells. SNOMEDCT:404038007|NCIT:C6561|DOID:8353|UMLS:C1321427 http://purl.obolibrary.org/obo/MONDO_0004540 malignant epithelioid neoplasm of the peripheral nerve sheath|malignant epithelioid tumor of the peripheral nerve sheath|malignant epithelioid peripheral nerve sheath neoplasm|malignant epithelioid tumor of peripheral nerve sheath|epithelioid MPNST|malignant epithelioid neoplasm of peripheral nerve sheath|malignant epithelioid peripheral nerve sheath tumor|epithelioid malignant peripheral nerve sheath tumor MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant biolink:Disease mondo ONCOTREE:CEGCC|GARD:0008437|ICD10:C53.8|ICD10:C53.0|ICD10:C53.1|DOID:8361|NCIT:C40212|MESH:C536823|Orphanet:213833 A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates. ORPHA:213833|MESH:C536823|DOID:8361|NCIT:C40212 http://purl.obolibrary.org/obo/MONDO_0004542 glassy cell variant cervical adenosquamous carcinoma|GCC of the cervix|glassy cell carcinoma of the cervix|glassy cell carcinoma of the cervix uteri|cervical adenosquamous carcinoma, glassy cell variant|glassy cell adenocarcinoma of the uterine cervix gard_rare|ordo_disease UBERON:0013149 hindbrain vesicle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013149 rhombencephalic vesicle MONDO:0004541 pseudoglandular variant testicular seminoma biolink:Disease mondo DOID:8358|UMLS:C1515293|NCIT:C40958 A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes. DOID:8358|UMLS:C1515293|NCIT:C40958 http://purl.obolibrary.org/obo/MONDO_0004541 testicular seminoma, pseudoglandular variant MONDO:0016508 rare non surgically correctable form of primary aldosteronism biolink:Disease mondo UMLS:CN226947|Orphanet:231641 ORPHA:231641|UMLS:CN226947 http://purl.obolibrary.org/obo/MONDO_0016508 obsoletion_candidate|ordo_group_of_disorders MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome biolink:Disease mondo Orphanet:231736|ICD10:Q15.8|UMLS:CN201521|GARD:0010938 UMLS:CN201521|ORPHA:231736 http://purl.obolibrary.org/obo/MONDO_0016509 microcornea posterior megalolenticonus persistent fetal vasculature coloboma|MPPC syndrome ordo_malformation_syndrome UBERON:0001161 body of stomach biolink:AnatomicalEntity mondo The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. http://purl.obolibrary.org/obo/UBERON_0001161 corpus gastricum|stomach body|corpus gastricum (ventriculare)|corpus ventriculare|gastric corpus|gastric body|corpus ventriculi MONDO:0016515 Kallmann syndrome-heart disease syndrome biolink:Disease mondo Orphanet:2326|ICD10:Q24.8|UMLS:CN201538 Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. ORPHA:2326|UMLS:CN201538 http://purl.obolibrary.org/obo/MONDO_0016515 ordo_malformation_syndrome UBERON:0001160 fundus of stomach biolink:AnatomicalEntity mondo The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]. http://purl.obolibrary.org/obo/UBERON_0001160 stomach fundus|fundus gastricus (ventricularis)|fundus ventricularis|fundus gastricus ventricularis|fundus ventriculi|gastric fundus|fundus gastricus MONDO:0016516 Kenny-Caffey syndrome biolink:Disease mondo SCTID:82837002|UMLS:C0265291|Orphanet:2333|MESH:C537020|ICD9:759.89|DC:0000549|OMIMPS:127000|NCIT:C130991|ICD10:Q87.1 A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. ORPHA:2333|MESH:C537020|UMLS:C0265291|NCIT:C130991|SNOMEDCT:82837002 http://purl.obolibrary.org/obo/MONDO_0016516 Kenny syndrome ordo_malformation_syndrome MONDO:0016517 obsolete rare genetic vascular disease biolink:Disease mondo Orphanet:233655|UMLS:CN201558 Rare genetic vascular disease. UMLS:CN201558|ORPHA:233655 http://purl.obolibrary.org/obo/MONDO_0016517 rare genetic vascular disease obsoletion_candidate|ordo_group_of_disorders MONDO:0016518 isolated punctate palmoplantar keratoderma biolink:Disease mondo ICD10:Q82.8|Orphanet:2338 A punctate palmoplantar keratoderma that is not part of a larger syndrome. ORPHA:2338|UMLS:C1274216 http://purl.obolibrary.org/obo/MONDO_0016518 isolated punctate palmoplantar hyperkeratosis|isolated punctate PPK|nonsyndromic punctate palmoplantar keratoderma ordo_group_of_disorders UBERON:0001162 cardia of stomach biolink:AnatomicalEntity mondo The part of the stomach attached to the esophagus. The cardia begins immediately distal to the z-line of the gastroeosphageal junction, where the squamous epithelium of the esophagus gives way to the columnar epithelium of the gastrointestinal tract[WP] http://purl.obolibrary.org/obo/UBERON_0001162 cardial orifice|pars cardiaca gastricae|gastric cardia|pars cardiaca (gaster)|cardiac region|cardiac antrum|stomach cardiac region|cardiac orifice|antrum cardiacum|cardial part of stomach MONDO:0016511 infectious embryofetopathy biolink:Disease mondo Orphanet:232035 ORPHA:232035 http://purl.obolibrary.org/obo/MONDO_0016511 ordo_group_of_disorders MONDO:0016512 Kabuki syndrome biolink:Disease mondo GARD:0006810|MedDRA:10063935|Orphanet:2322|NCIT:C124837|DOID:0060473|MESH:C537705|ICD10:Q87.0|UMLS:C0796004|OMIMPS:147920|SCTID:313426007 Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. ORPHA:2322|MESH:C537705|MEDDRA:10063935|SNOMEDCT:313426007|DOID:0060473|UMLS:C0796004|NCIT:C124837 http://purl.obolibrary.org/obo/MONDO_0016512 Kabuki make-up syndrome|NKS|Kabuki make up syndrome|KMS|Niikawa-Kuroki syndrome ordo_malformation_syndrome MONDO:0016513 alpha-thalassemia-related diseases biolink:Disease mondo ICD10:D56.0|UMLS:CN201534|Orphanet:232288 This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).* UMLS:CN201534|ORPHA:232288 http://purl.obolibrary.org/obo/MONDO_0016513 ordo_group_of_disorders GO:0070008 serine-type exopeptidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). http://purl.obolibrary.org/obo/GO_0070008 MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia biolink:Disease mondo Orphanet:2325|ICD10:Q81.0 ORPHA:2325|UMLS:C0432313 http://purl.obolibrary.org/obo/MONDO_0016514 Kallin syndrome|Gamborg-Nielsen syndrome ordo_malformation_syndrome GO:0070009 serine-type aminopeptidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of a peptide bond not more than three residues from the N-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). http://purl.obolibrary.org/obo/GO_0070009 UBERON:0001169 wall of large intestine biolink:AnatomicalEntity mondo An anatomical wall that is part of a large intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001169 large intestinal wall|large intestine anatomical wall|large intestine wall|anatomical wall of large intestine UBERON:0001168 wall of small intestine biolink:AnatomicalEntity mondo An anatomical wall that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001168 anatomical wall of small intestine|small bowel anatomical wall|small intestine wall|small intestinal wall|anatomical wall of small bowel|small intestine anatomical wall|wall of small bowel|small bowel wall MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome biolink:Disease mondo Orphanet:231742|UMLS:CN226948 Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. ORPHA:231742|UMLS:CN226948 http://purl.obolibrary.org/obo/MONDO_0016510 ordo_malformation_syndrome UBERON:0001165 pyloric antrum biolink:AnatomicalEntity mondo the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells http://purl.obolibrary.org/obo/UBERON_0001165 gastric antrum|stomach pyloric antrum|antrum pylori|antrum of stomach|antrum|stomach antrum|antrum pyloricum|antrum of Willis GO:0070003 threonine-type peptidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the hydroxyl group of a threonine residue at the active center acts as a nucleophile. http://purl.obolibrary.org/obo/GO_0070003 UBERON:0001164 greater curvature of stomach biolink:AnatomicalEntity mondo The greater curvature of the stomach is directed mainly forward, and is four or five times as long as the lesser curvature. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001164 stomach greater curvature UBERON:0001167 wall of stomach biolink:AnatomicalEntity mondo the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between http://purl.obolibrary.org/obo/UBERON_0001167 stomach anatomical wall|ventriculus wall|anatomical wall of ventriculus|wall of ventriculus|gastric wall|anatomical wall of stomach|stomach wall|ventriculus anatomical wall UBERON:0001166 pylorus biolink:AnatomicalEntity mondo the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum http://purl.obolibrary.org/obo/UBERON_0001166 pars pylorica|stomach pyloric region|pyloric part of stomach|valvula pylori|pars pylorica gastricae|pyloric region UBERON:0003849 mesencephalic neural crest biolink:AnatomicalEntity mondo A neural crest that has_potential_to_developmentally_contribute_to a midbrain. http://purl.obolibrary.org/obo/UBERON_0003849 neural crest midbrain|mesencephalic neural crest UBERON:0003847 thyroid artery biolink:AnatomicalEntity mondo A artery that supplies a thyroid gland. http://purl.obolibrary.org/obo/UBERON_0003847 UBERON:0003848 gonadal vein biolink:AnatomicalEntity mondo In medicine, gonadal vein refers to the blood vessel that carrying blood away from the gonad (testis, ovary) toward the heart. Females : ovarian vein Males : testicular vein [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0003848 vein of gonad|gonada vein|gonad vein|vein of gonada UBERON:0003845 lower eyelid epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a lower eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003845 inferior eyelid epithelium|lower eyelid epithelial tissue|epithelial tissue of lower eyelid|epithelium of inferior eyelid|epithelium of lower eyelid|epithelial tissue of inferior eyelid|inferior eyelid epithelial tissue GO:0008206 bile acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving bile acids, any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. http://purl.obolibrary.org/obo/GO_0008206 bile acid metabolism UBERON:0003846 thymus epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. http://purl.obolibrary.org/obo/UBERON_0003846 thymus gland epithelium|thymus epithelial tissue|thymic epithelial tissue|epithelial tissue of thymus gland|epithelial tissue of thymus|epithelium of thymus gland|epithelium of thymus|thymic epithelium|thymus gland epithelial tissue GO:0008203 cholesterol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. http://purl.obolibrary.org/obo/GO_0008203 cholesterol metabolism GO:0008202 steroid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/GO_0008202 steroid metabolism UBERON:0015834 duodenum lamina propria biolink:AnatomicalEntity mondo A lamina propria that is part of a duodenum. http://purl.obolibrary.org/obo/UBERON_0015834 lamina propria mucosae of duodenum|lamina propria of duodenum|duodenal lamina propria UBERON:0015833 foregut epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a foregut. http://purl.obolibrary.org/obo/UBERON_0015833 FOODON:03420174 obsolete: part of plant biolink:OntologyClass mondo Anatomical part of a plant, such as fruit, seed, pod, leaf, stem or flower as well as the whole plant. http://purl.obolibrary.org/obo/FOODON_03420174 FOODON:03420178 seed part biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03420178 FOODON:03420177 gluten biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=C0177 Extract, concentrate or isolate high in gluten, the predominant protein of wheat or corn. http://purl.obolibrary.org/obo/FOODON_03420177 UBERON:0003854 spinal cord neural plate biolink:AnatomicalEntity mondo A neural plate that develops_from a future spinal cord. http://purl.obolibrary.org/obo/UBERON_0003854 neural plate of spinal cord UBERON:0003855 gonad mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing gonad [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003855 mesenchyme of gonada|mesenchyme of gonad|gonada mesenchyme UBERON:0003852 rhombencephalon neural crest biolink:AnatomicalEntity mondo A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. http://purl.obolibrary.org/obo/UBERON_0003852 neural crest hindbrain|rhombomere neural crest|rhombencephalic neural crest UBERON:0003853 spinal cord neural crest biolink:AnatomicalEntity mondo A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. http://purl.obolibrary.org/obo/UBERON_0003853 neural crest spinal cord|spinal neural crest UBERON:0003850 telencephalon neural crest biolink:AnatomicalEntity mondo A neural crest that has_potential_to_developmentally_contribute_to a telencephalon. http://purl.obolibrary.org/obo/UBERON_0003850 neural crest telencephalon UBERON:0003851 diencephalon neural crest biolink:AnatomicalEntity mondo A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. http://purl.obolibrary.org/obo/UBERON_0003851 neural crest diencephalon|diencephalic neural crest|future diencephalon neural crest|neural crest of future diencephalon UBERON:0003838 abdominal segment connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003838 textus connectivus of abdominal segment of trunk|abdominal segment of trunk portion of connective tissue|abdominal segment of trunk connective tissue|abdominal segment of trunk textus connectivus|portion of connective tissue of abdominal segment of trunk|connective tissue of abdominal segment of trunk UBERON:0003839 forelimb joint biolink:AnatomicalEntity mondo A limb joint that is part of a forelimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003839 limb joint of superior member|forelimb joint of limb|limb joint of forelimb|superior member limb joint|limb joint of anteriormost limb|limb joint of upper extremity|limb joint of fore limb|joint of free upper limb|superior member joint of limb|forelimb limb joint|anteriormost limb joint of limb|upper extremity joint of limb|joint of limb of forelimb|fore limb joint of limb|joint of limb of superior member|wing joint|joint of limb of upper extremity|joint of limb of anteriormost limb|joint of limb of fore limb|fore limb limb joint|anteriormost limb limb joint|upper extremity limb joint GO:0008219 cell death biolink:OntologyClass mondo Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). http://purl.obolibrary.org/obo/GO_0008219 necrosis|accidental cell death UBERON:0003836 abdominal segment skin biolink:AnatomicalEntity mondo A skin of body that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003836 skin of abdominal segment of trunk|abdominal segment of trunk skin UBERON:0003837 thoracic segment connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003837 thorax textus connectivus|upper body connective tissue|connective tissue of thorax|portion of connective tissue of thorax|thorax portion of connective tissue|textus connectivus of thorax|thorax connective tissue UBERON:0003834 thoracic segment blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003834 thorax blood vessel|upper body blood vessel|blood vessel of thorax UBERON:0003835 abdominal segment blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003835 blood vessel of abdominal segment of trunk|abdominal segment of trunk blood vessel GO:0008211 glucocorticoid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. http://purl.obolibrary.org/obo/GO_0008211 glucocorticosteroid metabolism|glucocorticosteroid metabolic process|glucocorticoid metabolism FOODON:03420164 part of animal biolink:OntologyClass mondo Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. http://purl.obolibrary.org/obo/FOODON_03420164 UBERON:0015814 outer ear epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a external ear. http://purl.obolibrary.org/obo/UBERON_0015814 UBERON:0015813 middle ear epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a middle ear. http://purl.obolibrary.org/obo/UBERON_0015813 FOODON:03420167 fruit part biolink:OntologyClass mondo The fleshy fruit of any plant. *FRUIT* includes vegetables berries and pods as well. The bulk of a fruit is its fleshy part, which is covered by a peel (skin) and which encloses a core, pit or seeds. http://purl.obolibrary.org/obo/FOODON_03420167 UBERON:0003843 dental epithelium biolink:AnatomicalEntity mondo Epithelium that is part of a developing tooth or dental organ. http://purl.obolibrary.org/obo/UBERON_0003843 tooth epithelium|odontogenic epithelium|reduced enamel epithelium|dental epithelium|dental epithelia UBERON:0003844 upper eyelid epithelium biolink:AnatomicalEntity mondo An epithelium that is part of an upper eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003844 superior eyelid epithelial tissue|upper eyelid epithelial tissue|epithelial tissue of upper eyelid|epithelium of upper eyelid|epithelium of superior eyelid|superior eyelid epithelium|epithelial tissue of superior eyelid UBERON:0003841 autopod joint biolink:AnatomicalEntity mondo A limb joint that is part of an autopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003841 distal free limb segment joint of limb|limb joint of distal free limb segment|paw joint|autopod joint of limb|joint of limb of autopod|joint of limb of distal free limb segment|autopod limb joint|distal free limb segment limb joint|limb joint of autopod UBERON:0003842 neural tube lumen biolink:AnatomicalEntity mondo An anatomical space that surrounded_by a neural tube. http://purl.obolibrary.org/obo/UBERON_0003842 lumen of neural tube|central lumen|neurocoel|neural tube neural lumen|prosencoel|neural lumen|cavity of neural tube UBERON:0003840 hindlimb joint biolink:AnatomicalEntity mondo A limb joint that is part of a hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003840 joint of limb of inferior member|hindlimb joint of limb|limb joint of hindlimb|joint of limb of hind limb|lower extremity joint of limb|joint of limb of lower extremity|limb joint of inferior member|joint of limb of hindlimb|limb joint of hind limb|lower extremity limb joint|joint of lower limb|hindlimb limb joint|joint of free lower limb|limb joint of lower extremity|hind limb limb joint|inferior member joint of limb|hind limb joint of limb|inferior member limb joint UBERON:0003829 urethra muscle tissue biolink:AnatomicalEntity mondo Any muscle tissue that is part of the urethra. http://purl.obolibrary.org/obo/UBERON_0003829 urethral muscle layer UBERON:0003827 thoracic segment bone biolink:AnatomicalEntity mondo A bone that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003827 upper body bone|bone organ of thorax|bone of thorax|thorax bone organ|thorax bone UBERON:0003828 abdominal segment bone biolink:AnatomicalEntity mondo A bone that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003828 bone organ of abdominal segment of trunk|bone of abdominal segment of trunk|abdominal segment of trunk bone organ|abdominal segment of trunk bone UBERON:0003825 nerve of abdominal segment biolink:AnatomicalEntity mondo A nerve that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003825 abdominal segment nerve UBERON:0003826 upper leg bone biolink:AnatomicalEntity mondo A bone that is part of a hindlimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003826 femur UBERON:0003823 hindlimb zeugopod biolink:AnatomicalEntity mondo The middle limb segment of the pelvic free limb, between the autopod and stylopod segments. Includes as parts the hindlimb zeugopodial skeleton, which includes as parts the tibia and fibula, or their cartilage precursors, or evolutionary variants. http://purl.obolibrary.org/obo/UBERON_0003823 hindlimb epipodium|middle limb segment of hindlimb|middle limb segment of hind limb|posterior part of leg|sura|posterior region of leg|intermediate segment of free lower limb|lower leg|crus of hindlimb|zeugopod of hind limb|regio surae|lower extremity zeugopod|calf of leg|crus|calf|hind limb zeudopodium|hind epipodium|hind limb middle limb segment|regio cruris posterior|hindlimb zeudopodium|hindlimb zeugopod|hindlimb middle limb segment|sural region|leg|shank|hind limb zeugopod|posterior leg region|hindlimb zeugopodium|lower extremity middle limb segment|posterior curral region|zeugopod of hindlimb UBERON:0003824 nerve of thoracic segment biolink:AnatomicalEntity mondo A nerve that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003824 nerve of thorax|thoracic segment nerve|thorax nerve|upper body nerve FOODON:03420194 egg or egg component biolink:OntologyClass mondo Poultry, game bird or turtle eggs. http://purl.obolibrary.org/obo/FOODON_03420194 UBERON:0015807 ear epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a ear. http://purl.obolibrary.org/obo/UBERON_0015807 UBERON:0015808 eye epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a camera-type eye. http://purl.obolibrary.org/obo/UBERON_0015808 UBERON:0003832 esophagus muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003832 esophageal muscle|muscle organ of oesophagus|muscle organ of gullet|gullet muscle organ|esophagus muscle organ|oesophagus muscle organ|muscle organ of esophagus UBERON:0003833 abdominal segment muscle biolink:AnatomicalEntity mondo A muscle organ that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003833 muscle organ of abdominal segment of trunk|abdominal segment of trunk muscle organ UBERON:0003830 thoracic segment muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003830 upper body muscle|muscle organ of thorax|thorax muscle organ UBERON:0003831 respiratory system muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003831 muscle organ of respiratory system|muscle organ of apparatus respiratorius|respiratory system muscle organ|apparatus respiratorius muscle organ SO:0000299 specific_recombination_site biolink:SequenceFeature mondo A location where recombination or occurs during mitosis or meiosis. http://purl.obolibrary.org/obo/SO_0000299 specific recombination site SO:0000298 recombination_feature biolink:SequenceFeature mondo A feature where there has been exchange of genetic material in the event of mitosis or meiosis http://purl.obolibrary.org/obo/SO_0000298 INSDC_feature:misc_recomb|recombination feature|INSDC_qualifier:other NCBITaxon:33183 Onygenales organism taxon mondo PMID:17486980|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33183 Gymnoascales CHEBI:24473 halogen biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_24473 group 17 elements|halogeno|halogen|halogenos|halogens|halogenes|group VII elements|halogene|Halogene CHEBI:24471 halogen molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_24471 halogen molecular entities|halogen compounds|halogen molecular entity UBERON:0003821 metapodium bone biolink:AnatomicalEntity mondo A bone of the metapodial skeleton http://purl.obolibrary.org/obo/UBERON_0003821 metacarpal/metatarsal bone|metapodium bone|metacarpal/metatarsal|metapodial bone|metacarpal or metatarsal bone|metapodi bone UBERON:0003822 forelimb stylopod biolink:AnatomicalEntity mondo The part of the forelimb between pectoral region and the elbow, corresponding to the humerus. http://purl.obolibrary.org/obo/UBERON_0003822 stylopod of forelimb|proximal segment of free upper limb|upper arm|regio brachialis|brachium|stylopod of arm|arm|forelimb propodium|brachial region|fore propodium|forelimb stylopodium|forelimb stylopodial element|wing stylopod UBERON:0003820 prostate bud biolink:AnatomicalEntity mondo A region of the fetal urogenital sinus epithelium destined to become the prostate[GO]. http://purl.obolibrary.org/obo/UBERON_0003820 prostate gland bud|prostate primordium|prostatic bud|prostate ductal progenitor UBERON:0015870 lymph node of head biolink:AnatomicalEntity mondo A lymph node that is part of a head. http://purl.obolibrary.org/obo/UBERON_0015870 UBERON:0001228 renal papilla biolink:AnatomicalEntity mondo Tip of renal pyramid projecting into a minor calyx. http://purl.obolibrary.org/obo/UBERON_0001228 kidney papilla UBERON:0003889 fallopian tube biolink:AnatomicalEntity mondo Initial section of the oviduct through which the ova pass from the ovary to the uterus http://purl.obolibrary.org/obo/UBERON_0003889 mammalian oviduct|tuba uterina|paramesonephric duct of female|uterine tube (sensu Mammalia)|female paramesonephric duct|salpinx|fallopian tubes|salpinges UBERON:0001229 renal corpuscle biolink:AnatomicalEntity mondo the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron http://purl.obolibrary.org/obo/UBERON_0001229 kidney corpuscle|Malphigian corpuscle|corpusculum renis|cortical renal corpuscle|Malpighian corpuscle|corpusculum renale UBERON:0015875 heel biolink:AnatomicalEntity mondo The part of the foot that is the projection of the calcaneus. http://purl.obolibrary.org/obo/UBERON_0015875 calcaneal region|regio calcanea|heel region UBERON:0015871 facial lymph node biolink:AnatomicalEntity mondo Any of the lymph nodes that are part of a face. http://purl.obolibrary.org/obo/UBERON_0015871 buccal lymph node UBERON:0015873 heel skin biolink:AnatomicalEntity mondo A zone of skin that is part of a heel. http://purl.obolibrary.org/obo/UBERON_0015873 skin of heel NCBITaxon:82105 Cladophialophora organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_82105 UBERON:0003890 Mullerian duct biolink:AnatomicalEntity mondo paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. http://purl.obolibrary.org/obo/UBERON_0003890 early paramesonephric duct|paramesonephric duct|Müllerian duct|ductus paramesonephricus|Muellerian duct UBERON:0003891 stroma biolink:AnatomicalEntity mondo Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. http://purl.obolibrary.org/obo/UBERON_0003891 stromal connective tissue UBERON:0001235 adrenal cortex biolink:AnatomicalEntity mondo the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone http://purl.obolibrary.org/obo/UBERON_0001235 suprarenal cortex|cortex (glandula suprarenalis)|cortex of suprarenal gland|suprarenal|cortex glandulae suprarenalis|adrenal gland cortex|cortex of adrenal gland UBERON:0003898 skeletal muscle tissue of trunk biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue in the trunk. http://purl.obolibrary.org/obo/UBERON_0003898 skeletal muscle of torso|skeletal muscle tissue of trunk|skeletal muscle tissue of torso|trunk skeletal muscle|torso skeletal muscle|torso skeletal muscle tissue|trunk skeletal muscle tissue UBERON:0001234 left adrenal gland biolink:AnatomicalEntity mondo An adrenal gland that is in the left side of the abdomen http://purl.obolibrary.org/obo/UBERON_0001234 left suprarenal gland|glandula suprarenalis sinister UBERON:0001236 adrenal medulla biolink:AnatomicalEntity mondo the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine http://purl.obolibrary.org/obo/UBERON_0001236 chromaffin cells|medulla of glandula suprarenalis|medulla of adrenal gland|suprarenal medulla|medulla (glandula suprarenalis)|medulla glandulae suprarenalis|adrenal gland medulla|medulla of suprarenal gland|adrenal central medulla UBERON:0003897 axial muscle biolink:AnatomicalEntity mondo One of the skeletal muscles of the head and neck, spine, and ribs. http://purl.obolibrary.org/obo/UBERON_0003897 UBERON:0001231 nephron tubule biolink:AnatomicalEntity mondo An epithelial tube that is part of the nephron, the functional part of the kidney. http://purl.obolibrary.org/obo/UBERON_0001231 uriniferous tubule|tubulus renalis|kidney tubule|renal tubule UBERON:0003894 liver primordium biolink:AnatomicalEntity mondo A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. http://purl.obolibrary.org/obo/UBERON_0003894 liver endoderm|liver bud|hepatic plate|embryological hepatic plate|primordium of the liver UBERON:0001230 glomerular capsule biolink:AnatomicalEntity mondo A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus http://purl.obolibrary.org/obo/UBERON_0001230 capsula glomeruli|Muellerian capsule|Bowman's capsule|Mueller capsule|Malphigian capsule|pronephric glomerular capsule|Bowmans capsule|renal glomerular capsule|Malpighian capsule|Bowman's capsule|capsula glomerularis UBERON:0001233 right adrenal gland biolink:AnatomicalEntity mondo An adrenal gland that is in the right side of the abdomen http://purl.obolibrary.org/obo/UBERON_0001233 right suprarenal gland|glandula suprarenalis dexter UBERON:0001232 collecting duct of renal tubule biolink:AnatomicalEntity mondo The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient http://purl.obolibrary.org/obo/UBERON_0001232 ureteric tree|tubulus renalis colligens|kidney collecting duct|arcuate renal tubule|collecting tubule|junctional tube|collecting duct system|tubulus renalis arcuatus|kidney collecting tubule|renal collecting tubule|collecting duct UBERON:0003893 capsule biolink:AnatomicalEntity mondo A cover or envelope partly or wholly surrounding a structure. Examples: egg shell, articular capsules, renal capsules[WP]. http://purl.obolibrary.org/obo/UBERON_0003893 UBERON:0001217 ileal vein biolink:AnatomicalEntity mondo The veins that drain blood from the ileum into the superior mesenteric vein. http://purl.obolibrary.org/obo/UBERON_0001217 UBERON:0001216 jejunal vein biolink:AnatomicalEntity mondo A tributary of the superior mesenteric vein that drains the jejunum. http://purl.obolibrary.org/obo/UBERON_0001216 venae jejunales CHEBI:48407 antiparkinson drug biolink:ChemicalSubstance mondo A drug used in the treatment of Parkinson's disease. http://purl.obolibrary.org/obo/CHEBI_48407 antiparkinson agent UBERON:0001219 ileocolic vein biolink:AnatomicalEntity mondo The ileocolic vein is a vein which drains the ileum, colon, and cecum. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001219 vena ileocolica UBERON:0001218 middle colic vein biolink:AnatomicalEntity mondo The middle colic vein drains the transverse colon. It is a tributary of the superior mesenteric vein, and follows the path of its corresponding artery, the middle colic artery. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001218 vena colica media|vena colica media (intermedia) GO:0045202 synapse biolink:OntologyClass mondo The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/GO_0045202 synaptic junction|mixed synapse|electrotonic synapse GO:0047865 dimethylglycine dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: N,N-dimethylglycine + electron-transfer flavoprotein + H2O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein. http://purl.obolibrary.org/obo/GO_0047865 N,N-dimethylglycine:(acceptor) oxidoreductase (demethylating)|N,N-dimethylglycine:acceptor oxidoreductase (demethylating)|N,N-dimethylglycine oxidase activity UBERON:0015860 visceral abdominal lymph node biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0015860 FOODON:03420122 nonmeat part of animal biolink:OntologyClass mondo Bone, feathers, shell, skin or trim fat. http://purl.obolibrary.org/obo/FOODON_03420122 UBERON:0003887 intraembryonic coelom biolink:AnatomicalEntity mondo The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom http://purl.obolibrary.org/obo/UBERON_0003887 somatic coelom UBERON:0001224 renal pelvis biolink:AnatomicalEntity mondo A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. http://purl.obolibrary.org/obo/UBERON_0001224 pyelum|kidney pelvis|p. renallis|pelvis of ureter UBERON:0001223 left ureter biolink:AnatomicalEntity mondo An ureter that is part of a left side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001223 UBERON:0003885 mesometrium biolink:AnatomicalEntity mondo A mesentery that is part of a uterus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003885 mesentery of uterus FOODON:03420127 animal body or body part biolink:OntologyClass mondo Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. http://purl.obolibrary.org/obo/FOODON_03420127 UBERON:0001225 cortex of kidney biolink:AnatomicalEntity mondo Outer cortical portion of the kidney, between the renal capsule and the renal medulla. http://purl.obolibrary.org/obo/UBERON_0001225 renal cortex|kidney cortex|cortex renalis UBERON:0003886 future coelemic cavity lumen biolink:AnatomicalEntity mondo An anatomical cavity that has the potential to develop into a coelemic cavity lumen. http://purl.obolibrary.org/obo/UBERON_0003886 body cavity precursor UBERON:0001222 right ureter biolink:AnatomicalEntity mondo An ureter that is part of a right side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001222 UBERON:0001209 serosa of large intestine biolink:AnatomicalEntity mondo A serous membrane that is part of a large intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001209 visceral peritoneum of large intestine|large intestine serous membrane|large intestine serosa|serous coat of large intestine|tunica serosa intestini crassi|serous membrane of large intestine|large intestinal serosa GO:1901706 mesenchymal cell differentiation involved in bone development biolink:OntologyClass mondo The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of bone as it progresses from its formation to the mature state. http://purl.obolibrary.org/obo/GO_1901706 UBERON:0001206 serosa of small intestine biolink:AnatomicalEntity mondo A serous membrane that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001206 small bowel serous membrane|small intestinal serosa|small intestine serosa|tunica serosa (intestinum tenue)|visceral peritoneum of small intestine|serous membrane of small bowel|small intestine serous membrane|small bowel serosa|serous coat of small intestine|serosa of small bowel|tunica serosa intestini tenuis|serous membrane of small intestine UBERON:0003869 presumptive ganglion biolink:AnatomicalEntity mondo A presumptive structure that has the potential to develop into a ganglion. http://purl.obolibrary.org/obo/UBERON_0003869 UBERON:0001205 submucosa of small intestine biolink:AnatomicalEntity mondo submucosal tissue in the small intestines. http://purl.obolibrary.org/obo/UBERON_0001205 tela submucosa intestini tenuis|submucosa of small bowel|small bowel submucosa|tela submucosa (intestinum tenue)|small intestinal submucosa|small intestine submucosa UBERON:0003867 distal phalanx of pes biolink:AnatomicalEntity mondo A distal phalanx that is part of a pedal digit [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003867 ungual phalanx of hindlimb|phalanx distalis pedis|foot distal phalanx|terminal phalanx of foot|distal phalanx of toe|terminal phalanx of hindlimb|distal pedal phalanx|ungual phalanx of foot|distal phalanx of foot UBERON:0001208 submucosa of large intestine biolink:AnatomicalEntity mondo A submucosa that is part of a large intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001208 large intestinal submucosa|large intestine submucosa|submucous layer of large intestine|tela submucosa intestini crassi GO:1901701 cellular response to oxygen-containing compound biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen molecular entity UBERON:0001207 mucosa of large intestine biolink:AnatomicalEntity mondo A mucosa that is part of a large intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001207 large intestine mucosa|large intestine organ mucosa|organ mucosa of large intestine|mucous membrane of large intestine|large intestine mucosa of organ|large intestinal mucosa|mucosa of organ of large intestine|large intestine mucous membrane|tunica mucosa intestini crassi UBERON:0003868 proximal phalanx of pes biolink:AnatomicalEntity mondo A proximal phalanx that is part of a pedal digit [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003868 proximal pedal phalanx|proximal phalanx of foot|proximal phalanx of foot digit|phalanx proximalis pedis|foot proximal phalanx|proximal phalanx of pes|proximal phalanx of toe|proximal phalanx of hind digit GO:1901700 response to oxygen-containing compound biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/GO_1901700 response to oxygen molecular entity GO:0045211 postsynaptic membrane biolink:OntologyClass mondo A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/GO_0045211 post-synaptic membrane GO:0060850 obsolete regulation of transcription involved in cell fate commitment biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the commitment of a cell to a specific fate. http://purl.obolibrary.org/obo/GO_0060850 FOODON:03420155 obsolete: seed (anatomical part) biolink:OntologyClass mondo The main propagative part of a plant, especially the kernel of a grain or nut. The bulk of the seed is formed by the endosperm, which encloses the germ and is covered by skin (bran). http://purl.obolibrary.org/obo/FOODON_03420155 seed UBERON:0001213 intestinal villus biolink:AnatomicalEntity mondo the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold http://purl.obolibrary.org/obo/UBERON_0001213 enteric villous|small intestine villus|villi intestinales|enteric villi|intestinal villus layer|villus|villus intestinalis (intestinum tenue)|enteric villus|villi intestinales|intestinal villi UBERON:0001212 duodenal gland biolink:AnatomicalEntity mondo A compound tubular submucosal gland found in that portion of the duodenum which is above the hepatopancreatic sphincter (Sphincter of Oddi). The main function of these glands is to produce a mucus-rich alkaline secretion (containing bicarbonate)[WP]. http://purl.obolibrary.org/obo/UBERON_0001212 glandula duodenales|gland of Brunner|glandula duodenales Brunneri|Brunner's gland|submucosal gland of duodenum UBERON:0001215 inferior mesenteric vein biolink:AnatomicalEntity mondo A blood vessel that drains blood from the large intestine that usually terminates when reaching the splenic vein, which goes on to form the portal vein with the superior mesenteric vein (SMV). Anatomical variations include the IMV draining into the confluence of the SMV and splenic vein and the IMV draining in the SMV. The IMV lies to the right of the similarly name artery, the inferior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001215 vena mesenterica inferior|lower mesenteric vein CHEBI:24433 group biolink:ChemicalSubstance mondo A defined linked collection of atoms or a single atom within a molecular entity. http://purl.obolibrary.org/obo/CHEBI_24433 groupe|Rest|group|Gruppe|grupos|grupo GO:1901716 negative regulation of gamma-aminobutyric acid catabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of gamma-aminobutyric acid catabolic process. http://purl.obolibrary.org/obo/GO_1901716 inhibition of GABA catabolic process|down-regulation of gamma-aminobutyric acid catabolic process|negative regulation of 4-aminobutyrate catabolism|down-regulation of 4-aminobutyrate catabolism|inhibition of 4-aminobutyrate catabolic process|down regulation of gamma-aminobutyric acid catabolism|downregulation of 4-aminobutanoate catabolism|downregulation of 4-aminobutanoate catabolic process|downregulation of gamma-aminobutyric acid breakdown|inhibition of gamma-aminobutyric acid degradation|down regulation of gamma-aminobutyric acid catabolic process|inhibition of 4-aminobutyrate catabolism|negative regulation of 4-aminobutyrate catabolic process|negative regulation of gamma-aminobutyric acid catabolism|down-regulation of gamma-aminobutyric acid catabolism|down-regulation of 4-aminobutyrate catabolic process|inhibition of GABA catabolism|downregulation of GABA catabolic process|down regulation of 4-aminobutanoate catabolic process|inhibition of gamma-aminobutyric acid catabolic process|downregulation of gamma-aminobutyric acid catabolic process|inhibition of 4-aminobutanoate catabolism|negative regulation of gamma-aminobutyric acid degradation|down-regulation of gamma-aminobutyric acid degradation|down regulation of 4-aminobutyrate catabolic process|inhibition of gamma-aminobutyric acid catabolism|negative regulation of GABA catabolism|down-regulation of GABA catabolism|inhibition of gamma-aminobutyric acid breakdown|downregulation of 4-aminobutyrate catabolism|negative regulation of 4-aminobutanoate catabolic process|down-regulation of 4-aminobutanoate catabolic process|down regulation of GABA catabolic process|down regulation of gamma-aminobutyric acid degradation|down regulation of GABA catabolism|negative regulation of 4-aminobutanoate catabolism|down-regulation of 4-aminobutanoate catabolism|downregulation of 4-aminobutyrate catabolic process|down-regulation of gamma-aminobutyric acid breakdown|negative regulation of GABA catabolic process|down-regulation of GABA catabolic process|negative regulation of gamma-aminobutyric acid breakdown|downregulation of gamma-aminobutyric acid catabolism|inhibition of 4-aminobutanoate catabolic process|down regulation of 4-aminobutyrate catabolism|down regulation of 4-aminobutanoate catabolism|downregulation of gamma-aminobutyric acid degradation|down regulation of gamma-aminobutyric acid breakdown|downregulation of GABA catabolism CHEBI:24432 biological role biolink:ChemicalSubstance mondo A role played by the molecular entity or part thereof within a biological context. http://purl.obolibrary.org/obo/CHEBI_24432 biological function GO:1901717 positive regulation of gamma-aminobutyric acid catabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of gamma-aminobutyric acid catabolic process. http://purl.obolibrary.org/obo/GO_1901717 upregulation of gamma-aminobutyric acid catabolic process|positive regulation of GABA catabolic process|upregulation of 4-aminobutyrate catabolism|positive regulation of 4-aminobutyrate catabolic process|up regulation of gamma-aminobutyric acid degradation|up regulation of GABA catabolism|up regulation of GABA catabolic process|up-regulation of 4-aminobutanoate catabolic process|up-regulation of 4-aminobutanoate catabolism|positive regulation of gamma-aminobutyric acid degradation|activation of gamma-aminobutyric acid catabolism|up-regulation of gamma-aminobutyric acid breakdown|positive regulation of GABA catabolism|upregulation of gamma-aminobutyric acid catabolism|positive regulation of 4-aminobutyrate catabolism|upregulation of 4-aminobutyrate catabolic process|activation of 4-aminobutyrate catabolic process|up-regulation of GABA catabolic process|up regulation of 4-aminobutanoate catabolism|up regulation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid breakdown|positive regulation of 4-aminobutanoate catabolism|upregulation of gamma-aminobutyric acid degradation|up-regulation of gamma-aminobutyric acid catabolic process|activation of gamma-aminobutyric acid degradation|upregulation of GABA catabolism|positive regulation of gamma-aminobutyric acid breakdown|positive regulation of gamma-aminobutyric acid catabolism|activation of 4-aminobutanoate catabolic process|upregulation of 4-aminobutanoate catabolic process|activation of GABA catabolism|up-regulation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid catabolism|up regulation of gamma-aminobutyric acid catabolic process|upregulation of 4-aminobutanoate catabolism|activation of GABA catabolic process|up-regulation of 4-aminobutyrate catabolic process|activation of 4-aminobutanoate catabolism|activation of gamma-aminobutyric acid catabolic process|upregulation of GABA catabolic process|upregulation of gamma-aminobutyric acid breakdown|up-regulation of gamma-aminobutyric acid catabolism|positive regulation of 4-aminobutanoate catabolic process|activation of gamma-aminobutyric acid breakdown|up regulation of 4-aminobutyrate catabolic process|up-regulation of gamma-aminobutyric acid degradation|activation of 4-aminobutyrate catabolism|up-regulation of GABA catabolism|up regulation of 4-aminobutanoate catabolic process CHEBI:24431 chemical entity biolink:ChemicalSubstance mondo A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances. http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity UBERON:0003858 lower eyelid mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing lower eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003858 inferior eyelid mesenchyme|mesenchyme of inferior eyelid|mesenchyme of lower eyelid GO:1901715 regulation of gamma-aminobutyric acid catabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of gamma-aminobutyric acid catabolic process. http://purl.obolibrary.org/obo/GO_1901715 regulation of 4-aminobutanoate catabolism|regulation of gamma-aminobutyric acid breakdown|regulation of 4-aminobutanoate catabolic process|regulation of GABA catabolic process|regulation of 4-aminobutyrate catabolic process|regulation of 4-aminobutyrate catabolism|regulation of gamma-aminobutyric acid degradation|regulation of GABA catabolism|regulation of gamma-aminobutyric acid catabolism UBERON:0003859 forelimb mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing forelimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003859 superior member mesenchyme|mesenchyme of forelimb|mesenchyme of superior member|mesenchyme of anteriormost limb|mesenchyme of upper extremity|mesenchyme of fore limb|fore limb mesenchyme|wing mesenchyme|anteriormost limb mesenchyme|upper extremity mesenchyme UBERON:0003856 uncondensed odontogenic mesenchyme biolink:AnatomicalEntity mondo Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. http://purl.obolibrary.org/obo/UBERON_0003856 enamel organ mesenchyme|dental mesenchyme|dental organ mesenchyme|tooth enamel organ mesenchyme|tooth mesenchyme UBERON:0003857 upper eyelid mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing upper eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003857 mesenchyme of upper eyelid|mesenchyme of superior eyelid|superior eyelid mesenchyme GO:0060840 artery development biolink:OntologyClass mondo The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed. http://purl.obolibrary.org/obo/GO_0060840 GO:0060841 venous blood vessel development biolink:OntologyClass mondo The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed. http://purl.obolibrary.org/obo/GO_0060841 FOODON:03420144 plant above surface, excluding fruit and seed biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03420144 UBERON:0003865 distal phalanx of manus biolink:AnatomicalEntity mondo A distal phalanx that is part of a finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003865 distal manual phalanx|terminal phalanx of hand|phalanx distalis manus|distal phalanx of finger|hand distal phalanx|distal phalanx of manual digit|ungual phalanx of hand|distal phalanx of hand UBERON:0001202 pyloric sphincter biolink:AnatomicalEntity mondo A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. http://purl.obolibrary.org/obo/UBERON_0001202 pyloric valve UBERON:0001201 serosa of stomach biolink:AnatomicalEntity mondo the outermost layer of the stomach wall, consisting of layers of connective tissue continuous with the peritoneum http://purl.obolibrary.org/obo/UBERON_0001201 anatomical wall of stomach serous membrane|serosa of anatomical wall of stomach|serosa of ventriculus anatomical wall|serous membrane of ventriculus wall|serous coat of stomach|serous membrane of anatomical wall of ventriculus|ventriculus anatomical wall serosa|wall of stomach serous membrane|serous membrane of wall of ventriculus|stomach wall serosa|ventriculus anatomical wall serous membrane|stomach wall serous membrane|wall of stomach serosa|serosa of stomach wall|tunica serosa gastricae|serous membrane of gastric wall|serosa of stomach anatomical wall|gastric serosa|tunica serosa (gaster)|stomach serosa|anatomical wall of stomach serosa|serous membrane of anatomical wall of stomach|serous membrane of wall of stomach|gastric wall serosa|serosa of ventriculus wall|ventriculus wall serous membrane|stomach anatomical wall serous membrane|serous membrane of ventriculus anatomical wall|wall of ventriculus serosa|visceral peritoneum of stomach|serosa of wall of ventriculus|serosa of anatomical wall of ventriculus|serous membrane of stomach wall|anatomical wall of ventriculus serous membrane|anatomical wall of ventriculus serosa|wall of ventriculus serous membrane|stomach anatomical wall serosa|serosa of gastric wall|ventriculus wall serosa|serous membrane of stomach anatomical wall|gastric wall serous membrane|serosa of wall of stomach UBERON:0003866 middle phalanx of pes biolink:AnatomicalEntity mondo A middle phalanx that is part of a toe [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003866 middle pedal phalanx|phalanx media pedis|middle phalanx of foot|middle phalanx of toe|foot middle phalanx UBERON:0003863 pedal digit 5 phalanx biolink:AnatomicalEntity mondo A phalanx that is part of a foot digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003863 foot digit 5 long bone of digit|phalanx of fifth digit of foot|little toe phalanx|foot digit 5 phalanx|foot digit 5 digit long bone|hind limb digit 5 phalanx|long bone of digit of foot digit 5|pedal digit V phalanx|phalanx of foot digit 5|phalanx of little toe|phalanx of fifth toe|digit long bone of foot digit 5|foot digit 5 phalanx UBERON:0001204 mucosa of small intestine biolink:AnatomicalEntity mondo A mucosa that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001204 organ mucosa of small bowel|mucous membrane of small bowel|small bowel mucosa of organ|mucosa of small bowel|tunica mucosa intestini tenuis|small bowel mucosa|mucosa of organ of small bowel|small bowel organ mucosa|small bowel mucous membrane|tunica mucosa (intestinum tenue)|mucous membrane of small intestine|small intestine mucosa of organ|organ mucosa of small intestine|small intestine mucosa|small intestinal mucosa|small intestine organ mucosa|mucosa of organ of small intestine|small intestine mucous membrane UBERON:0003864 middle phalanx of manus biolink:AnatomicalEntity mondo A middle phalanx that is part of a finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003864 middle phalanx of manual digit|middle manual phalanx|middle phalanx of hand|phalanx media manus|middle phalanx of finger|hand middle phalanx FOODON:03420148 root, stem, leaf or flower biolink:OntologyClass mondo The parts of a plant that are not fruit or seed. http://purl.obolibrary.org/obo/FOODON_03420148 UBERON:0001200 submucosa of stomach biolink:AnatomicalEntity mondo the fibrous connective tissue layer beneath the stomach mucosa http://purl.obolibrary.org/obo/UBERON_0001200 stomach submucosa|submucous layer of stomach|gastric submucosa|tela submucosa (gaster)|submucosa of ventriculus|tela submucosa ventriculi|ventriculus submucosa|tela submucosa gastricae UBERON:0003860 hindlimb mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003860 mesenchyme of hindlimb|mesenchyme of hind limb|mesenchyme of lower extremity|lower extremity mesenchyme|hind limb mesenchyme|inferior member mesenchyme|mesenchyme of inferior member UBERON:4200172 neck of humerus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_4200172 collum anatomicum (Humerus)|collum anatomicum humeri|humeral neck|anatomic neck of humerus GO:0008289 lipid binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a lipid. http://purl.obolibrary.org/obo/GO_0008289 MONDO:0100203 parainfluenza virus type 1 infectious disease biolink:Disease mondo OMOP:4248511 A disease caused by infection with parainfluenza virus type 1. http://purl.obolibrary.org/obo/MONDO_0100203 human respirovirus 1 infectious disease|infection due to human parainfluenza virus 1|parainfluenza 1 infection|infection caused by human parainfluenza virus 1 PATO:0001857 concave biolink:OntologyClass mondo A shape quality in a bearer by virtue of the bearer's curving inward. http://purl.obolibrary.org/obo/PATO_0001857 MONDO:0100204 parainfluenza virus type 2 infectious disease biolink:Disease mondo OMOP:4289924 A disease caused by infection with parainfluenza virus type 2. http://purl.obolibrary.org/obo/MONDO_0100204 human rubulavirus 2 infectious disease|infection due to human parainfluenza virus 2|infection caused by human parainfluenza virus 2 MONDO:0100205 parainfluenza virus type 4 infectious disease biolink:Disease mondo OMOP:4288743 A disease caused by infection with parainfluenza virus type 4. http://purl.obolibrary.org/obo/MONDO_0100205 infection due to parainfluenza virus 4|infection caused by human parainfluenza virus 4|infection caused by parainfluenza virus 4|human rubulavirus 4 infectious disease|infection due to human parainfluenza virus 4 GO:0008285 negative regulation of cell population proliferation biolink:OntologyClass mondo Any process that stops, prevents or reduces the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/GO_0008285 downregulation of cell proliferation|down regulation of cell proliferation|inhibition of cell proliferation|down-regulation of cell proliferation|negative regulation of cell proliferation GO:0033240 positive regulation of cellular amine metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines. http://purl.obolibrary.org/obo/GO_0033240 positive regulation of amine metabolism GO:0033239 negative regulation of cellular amine metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines. http://purl.obolibrary.org/obo/GO_0033239 negative regulation of amine metabolism GO:0033238 regulation of cellular amine metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines. http://purl.obolibrary.org/obo/GO_0033238 regulation of amine metabolism MONDO:0100210 growth hormone insensitivity syndrome with immune dysregulation biolink:Disease mondo OMIMPS:245590 http://purl.obolibrary.org/obo/MONDO_0100210 MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive biolink:Disease mondo OMIM:245590|UMLS:C1855548|Orphanet:220465|SCTID:724179008|ICD10:E34.3|MESH:C537871|ICD10:D82.8|UMLS:C4510411 http://identifiers.org/omim/245590|SNOMEDCT:724179008|MESH:C537871|UMLS:C1855548|UMLS:C4510411|ORPHA:220465 http://purl.obolibrary.org/obo/MONDO_0100211 growth hormone insensitivity with immunodeficiency|Laron syndrome with immunodeficiency|short stature due to STAT5b deficiency|growth hormone insensitivity due to postreceptor defect|Laron syndrome due to postreceptor defect|Laron-like syndrome ordo_disease MONDO:0100212 IFAP syndrome biolink:Disease mondo OMIMPS:308205 http://purl.obolibrary.org/obo/MONDO_0100212 MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome biolink:Disease mondo OMIM:308205|UMLS:C1839988|GARD:0002952|MESH:C536085|Orphanet:2273 An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome. MESH:C536085|UMLS:C1839988|http://identifiers.org/omim/308205|ORPHA:2273 http://purl.obolibrary.org/obo/MONDO_0100213 ichthyosis follicularis atrichia photophobia syndrome|ichthyosis follicularis-alopecia-photophobia syndrome|IFAP syndrome|ichthyosis follicularis-atrichia-photophobia syndrome|IFAP/BRESHECK syndrome|IFAP syndrome with or without BRESHECK syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia ordo_disease PATO:0001863 chronic biolink:OntologyClass mondo A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. http://purl.obolibrary.org/obo/PATO_0001863 MONDO:0100214 Rajab interstitial lung disease with brain calcifications biolink:Disease mondo OMIMPS:613658 http://purl.obolibrary.org/obo/MONDO_0100214 MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 biolink:Disease mondo UMLS:C3150910|UMLS:CN248515|SCTID:720576001|Orphanet:178506|OMIM:618007|OMIM:613658 http://identifiers.org/omim/613658|ORPHA:178506|http://identifiers.org/omim/618007|UMLS:CN248515|UMLS:C3150910|SNOMEDCT:720576001 http://purl.obolibrary.org/obo/MONDO_0100215 neurodevelopmental disorder with brain, liver, and lung abnormalities; NEDBLLA|NEDBLLA|brain calcification, Rajab type|neurodevelopmental disorder with brain, liver, and lung abnormalities|Rajab syndrome|developmental delay, small stature, microcephaly, and brain calcifications ordo_disease MONDO:0100209 X inactivation, familial skewed biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0100209 HP:0007556 Plantar hyperkeratosis biolink:PhenotypicFeature mondo UMLS:C1856954 Hyperkeratosis affecting the sole of the foot. http://purl.obolibrary.org/obo/HP_0007556 Plantar hyperkeratoses GO:0035898 parathyroid hormone secretion biolink:OntologyClass mondo The regulated release of parathyroid hormone into the circulatory system. http://purl.obolibrary.org/obo/GO_0035898 PTH secretion|parathyrin secretion|parathormone secretion HP:0007550 Hypohidrosis or hyperhidrosis biolink:PhenotypicFeature mondo UMLS:C4021831 http://purl.obolibrary.org/obo/HP_0007550 Lack of sweating or excessive sweating MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 biolink:Disease mondo OMIM:619013 http://identifiers.org/omim/619013 http://purl.obolibrary.org/obo/MONDO_0100220 RILDBC2|RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 MONDO:0100221 IFAP syndrome 2 biolink:Disease mondo OMIM:619016 http://identifiers.org/omim/619016 http://purl.obolibrary.org/obo/MONDO_0100221 IFAP2|IFAP SYNDROME 2|ichthyosis follicularis, atrichia, and photophobia syndrome 2 MONDO:0100222 A20 haploinsufficiency biolink:Disease mondo Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene. http://purl.obolibrary.org/obo/MONDO_0100222 HA20 PATO:0001873 cylindrical biolink:OntologyClass mondo A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. http://purl.obolibrary.org/obo/PATO_0001873 tubulate|rod-like|rod-shaped MONDO:0100223 mitochondrial complex I deficiency, nuclear type biolink:Disease mondo OMIMPS:252010 http://purl.obolibrary.org/obo/MONDO_0100223 MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 biolink:Disease mondo GARD:0003908|OMIM:252010|ICD10:G71.3|UMLS:C1838979 UMLS:C1838979|http://identifiers.org/omim/252010 http://purl.obolibrary.org/obo/MONDO_0100224 NADH-coenzyme Q reductase deficiency|NADH:Q(1) oxidoreductase deficiency|mitochondrial NADH dehydrogenase component of Complex I, deficiency of|mitochondrial complex I deficiency|MC1DN1|mitochondrial complex 1 deficiency PATO:0001874 discoid biolink:OntologyClass mondo A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. http://purl.obolibrary.org/obo/PATO_0001874 disc-shaped|disk-shaped MONDO:0100225 collagen 6-related myopathy biolink:Disease mondo A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other. http://purl.obolibrary.org/obo/MONDO_0100225 collagen VI-related myopathy|collagen VI-related muscular dystrophy|collagen VI-related muscle disorder MONDO:0100226 parasomnia, sleepwalking type biolink:Disease mondo MESH:D013009|OMIM:613938 A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%). MESH:D013009|http://identifiers.org/omim/613938 http://purl.obolibrary.org/obo/MONDO_0100226 parasomnia, sleep terrors type|parasomnia, sleepwalking type; PSMNSW|PSMNSW|somnambulism|sleep walking|sleep walking disorder|sleepwalking disorder MONDO:0100228 LAMA2-related muscular dystrophy biolink:Disease mondo Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene. http://purl.obolibrary.org/obo/MONDO_0100228 MONDO:0100218 arthrogryposis multiplex congenita 5 biolink:Disease mondo OMIM:618947 http://identifiers.org/omim/618947 http://purl.obolibrary.org/obo/MONDO_0100218 ARTHROGRYPOSIS MULTIPLEX CONGENITA 5|AMC5 MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant biolink:Disease mondo OMIM:618985 http://identifiers.org/omim/618985 http://purl.obolibrary.org/obo/MONDO_0100219 GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT|GHISID2 MONDO:0016390 familial isolated hypoparathyroidism biolink:Disease mondo SCTID:725036000|Orphanet:2238|GARD:0002910|MESH:C537156|OMIMPS:146200|ICD10:E20.8|UMLS:C1832648 Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. SNOMEDCT:725036000|ORPHA:2238|MESH:C537156|UMLS:C1832648 http://purl.obolibrary.org/obo/MONDO_0016390 hypoparathyroidism familial isolated|hypoparathyroidism, familial|hypoparathyroidism, familial isolated|FIH|hypoparathyroidism, familial isolated; FIH ordo_disease MONDO:0016391 neonatal diabetes mellitus biolink:Disease mondo ICD9:775.1|SCTID:49817004|COHD:193323|MedDRA:10028933|DOID:11717|NCIT:C99248|ICD10:P70.2|UMLS:C0158981|Orphanet:224 Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. MEDDRA:10028933|DOID:11717|ORPHA:224|UMLS:C0158981|NCIT:C99248|SNOMEDCT:49817004 http://purl.obolibrary.org/obo/MONDO_0016391 congenital diabetes mellitus|diabetes mellitus syndrome in newborn infant|NDM ordo_group_of_disorders MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome biolink:Disease mondo GARD:0001196|ICD10:Q04.3|Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. ORPHA:2246 http://purl.obolibrary.org/obo/MONDO_0016392 cerebellar hypoplasia tapetoretinal degeneration ordo_malformation_syndrome|gard_rare NCBITaxon:1206795 Lophotrochozoa organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1206795 GO:0008284 positive regulation of cell population proliferation biolink:OntologyClass mondo Any process that activates or increases the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/GO_0008284 activation of cell proliferation|up-regulation of cell proliferation|positive regulation of cell proliferation|upregulation of cell proliferation|stimulation of cell proliferation|up regulation of cell proliferation NCBITaxon:1206794 Ecdysozoa organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1206794 GO:0008283 cell population proliferation biolink:OntologyClass mondo The multiplication or reproduction of cells, resulting in the expansion of a cell population. http://purl.obolibrary.org/obo/GO_0008283 cell proliferation MONDO:0016397 lysosomal disease with epilepsy biolink:Disease mondo Orphanet:225681|UMLS:CN201328 UMLS:CN201328|ORPHA:225681 http://purl.obolibrary.org/obo/MONDO_0016397 ordo_group_of_disorders MONDO:0016398 peroxisomal disease with epilepsy biolink:Disease mondo Orphanet:225686|UMLS:CN201329 UMLS:CN201329|ORPHA:225686 http://purl.obolibrary.org/obo/MONDO_0016398 ordo_group_of_disorders MONDO:0016399 amino acid or protein metabolism disease with epilepsy biolink:Disease mondo UMLS:CN201330|Orphanet:225689 UMLS:CN201330|ORPHA:225689 http://purl.obolibrary.org/obo/MONDO_0016399 ordo_group_of_disorders MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome biolink:Disease mondo Orphanet:2250|ICD10:Q87.8|UMLS:CN201299 This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. ORPHA:2250|UMLS:CN201299 http://purl.obolibrary.org/obo/MONDO_0016393 Bosma-Henkin-Christiansen syndrome|Bosma arhinia-microphthalmia syndrome ordo_disease MONDO:0016394 sporadic infantile bilateral striatal necrosis biolink:Disease mondo ICD10:G23.2|Orphanet:225147 Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. ORPHA:225147 http://purl.obolibrary.org/obo/MONDO_0016394 sporadic infantile striatonigral degeneration|ABSN|sporadic IBSN|sporadic infantile striatonigral necrosis|acute bilateral striatal necrosis ordo_clinical_subtype MONDO:0016395 foveal hypoplasia-presenile cataract syndrome biolink:Disease mondo Orphanet:2253|ICD10:H26.0|MESH:C537858|UMLS:C2931644 UMLS:C2931644|ORPHA:2253|MESH:C537858 http://purl.obolibrary.org/obo/MONDO_0016395 O'Donnell-Pappas syndrome ordo_disease MONDO:0016396 pontocerebellar hypoplasia type 1 biolink:Disease mondo GARD:0010704|Orphanet:2254|UMLS:C1843504|OMIM:607596|OMIM:614339|SCTID:718610008|MESH:C548069|ICD10:Q04.3 Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. http://identifiers.org/omim/614339|ORPHA:2254|MESH:C548069|http://identifiers.org/omim/607596|UMLS:C1843504|SNOMEDCT:718610008 http://purl.obolibrary.org/obo/MONDO_0016396 mental retardation, autosomal recessive 32|mental retardation, autosomal recessive 32; MRT32|PCH1|MRT32|Norman disease ordo_malformation_syndrome GO:0008242 omega peptidase activity biolink:OntologyClass mondo Catalysis of the cleavage of non-standard peptide bonds releasing substituted amino acids such as pyroglutamate or cleave isopeptide bonds, such as many deubiquitinating enzymes. http://purl.obolibrary.org/obo/GO_0008242 peptidase activity, acting on peptides containing modified amino acids HGNC:28472 TMEM43 biolink:OntologyClass mondo http://identifiers.org/hgnc/28472 HGNC:16499 RAB39B biolink:OntologyClass mondo http://identifiers.org/hgnc/16499 NCBITaxon:118882 Brucellaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_118882 PATO:0001824 dry biolink:OntologyClass mondo A wetness quality inhering in a bearer by virtue of the bearer's not being covered by a liquid. http://purl.obolibrary.org/obo/PATO_0001824 HGNC:28486 MFSD8 biolink:OntologyClass mondo http://identifiers.org/hgnc/28486 PATO:0001822 wetness biolink:OntologyClass mondo A quality inhering in a bearer by virtue of whether the bearer's being covered by a liquid. http://purl.obolibrary.org/obo/PATO_0001822 GO:0008228 opsonization biolink:OntologyClass mondo The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody. http://purl.obolibrary.org/obo/GO_0008228 MONDO:0041366 acute epiglottitis biolink:Disease mondo SCTID:29608009 Acute form of epiglottitis. SNOMEDCT:29608009 http://purl.obolibrary.org/obo/MONDO_0041366 epiglottitis, acute|acute epiglottitis|acute epiglottitis and supraglottitis HGNC:16473 NME8 biolink:OntologyClass mondo http://identifiers.org/hgnc/16473 HGNC:16472 SLC45A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16472 GO:0008238 exopeptidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain, in a reaction that requires a free N-terminal amino group, C-terminal carboxyl group or both. http://purl.obolibrary.org/obo/GO_0008238 exoprotease activity GO:0008236 serine-type peptidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). http://purl.obolibrary.org/obo/GO_0008236 serine protease activity GO:0008233 peptidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. http://purl.obolibrary.org/obo/GO_0008233 peptidase activity, acting on D-amino acid peptides|protease activity|peptide hydrolase activity|hydrolase, acting on peptide bonds|proteinase activity|peptidase activity, acting on L-amino acid peptides GO:0008240 tripeptidyl-peptidase activity biolink:OntologyClass mondo Catalysis of the release of an N-terminal tripeptide from a polypeptide. http://purl.obolibrary.org/obo/GO_0008240 MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma biolink:Disease mondo DOID:8144|UMLS:C1333038|NCIT:C37204 A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years. DOID:8144|NCIT:C37204|UMLS:C1333038 http://purl.obolibrary.org/obo/MONDO_0004478 chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene|pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma|CLL/SLL with unmutated IGVH MONDO:0004477 adrenal gland ganglioneuroblastoma biolink:Disease mondo UMLS:C1332176|NCIT:C7646|DOID:8140 A ganglioneuroblastoma arising from the adrenal gland. UMLS:C1332176|NCIT:C7646|DOID:8140 http://purl.obolibrary.org/obo/MONDO_0004477 ganglioneuroblastoma (disease) of adrenal gland|adrenal ganglioneuroblastoma|adrenal gland ganglioneuroblastoma (disease)|adrenal gland ganglioneuroblastoma GO:0045190 isotype switching biolink:OntologyClass mondo The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. http://purl.obolibrary.org/obo/GO_0045190 class switch recombination|class switching|isotype switch recombination MONDO:0004479 malignant childhood germ cell neoplasm biolink:Disease mondo UMLS:C1334574|NCIT:C6541|DOID:8149 A malignant germ cell tumor that occurs during childhood. DOID:8149|UMLS:C1334574|NCIT:C6541 http://purl.obolibrary.org/obo/MONDO_0004479 malignant pediatric germ cell neoplasm|malignant childhood germ cell tumor|malignant childhood germ cell neoplasm|malignant pediatric germ cell tumor GO:0045191 regulation of isotype switching biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of isotype switching. http://purl.obolibrary.org/obo/GO_0045191 regulation of class switch recombination|regulation of isotype switch recombination|regulation of class switching MONDO:0004474 gallbladder lymphoma biolink:Disease mondo UMLS:C1333748|NCIT:C5734|DOID:8135 A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site. UMLS:C1333748|NCIT:C5734|DOID:8135 http://purl.obolibrary.org/obo/MONDO_0004474 gallbladder lymphoma|lymphoma of the gallbladder|primary gallbladder lymphoma|lymphoma of gall bladder|gall bladder lymphoma|lymphoma of gallbladder MONDO:0004473 epiglottis cancer biolink:Disease mondo NCIT:C35697|SCTID:187681002|ICD10:C10.1|DOID:8133|ICD9:146.4|NCIT:C4836 A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas. NCIT:C4836|NCIT:C35697|DOID:8133|SNOMEDCT:187681002 http://purl.obolibrary.org/obo/MONDO_0004473 malignant neoplasm of epiglottis|malignant tumor of Epiglottis|epiglottic carcinoma|malignant epiglottic neoplasm|malignant neoplasm of anterior epiglottis|malignant Epiglottis neoplasm|epiglottis cancer|malignant tumor of the Epiglottis|epiglottic throat cancer|epiglottic cancer|malignant neoplasm of Epiglottis|malignant epiglottis neoplasm|malignant neoplasm of anterior aspect of epiglottis|malignant neoplasm of the Epiglottis|malignant Epiglottis tumor|malignant epiglottic tumor|malignant neoplasm of anterior surface of epiglottis|cancer of epiglottis MONDO:0004476 obsolete thymus sarcomatoid carcinoma biolink:Disease mondo A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. http://purl.obolibrary.org/obo/MONDO_0004476 MONDO:0004475 thymus clear cell carcinoma biolink:Disease mondo UMLS:C1333069|NCIT:C6462|DOID:8137 A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm. UMLS:C1333069|NCIT:C6462|DOID:8137 http://purl.obolibrary.org/obo/MONDO_0004475 clear cell carcinoma of Thymus|thymic clear cell carcinoma|Thymus clear cell carcinoma|thymus clear cell carcinoma|clear cell carcinoma of the Thymus|clear cell carcinoma of the Thymus HGNC:28557 KLHDC8B biolink:OntologyClass mondo http://identifiers.org/hgnc/28557 MONDO:0004470 obsolete osteochondrosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004470 MONDO:0004472 breast columnar cell mucinous carcinoma biolink:Disease mondo UMLS:C1511305|DOID:8130|NCIT:C40355 An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified. NCIT:C40355|UMLS:C1511305|DOID:8130 http://purl.obolibrary.org/obo/MONDO_0004472 breast columnar cell mucinous carcinoma MONDO:0004471 bacterial arthritis biolink:Disease mondo ICD9:711.90|ICD10:M00.9|ICD9:711.9|NCIT:C26699|DOID:813|MESH:D001170|SCTID:48245008|EFO:1001351|ICD9:711.97|ICD9:711.96|ICD9:711.95|ICD9:711.0|ICD9:711.94|ICD9:711.40|ICD10:M00|ICD9:711.93|ICD9:711.92|ICD9:711.91 The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. MESH:D001170|DOID:813|SNOMEDCT:48245008|NCIT:C26699 http://purl.obolibrary.org/obo/MONDO_0004471 pyogenic arthritis|infectious arthritis|septic arthritis MONDO:0016467 isotretinoin syndrome biolink:Disease mondo GARD:0000517|ICD10:Q86.8|Orphanet:2305|NCIT:C98929|SCTID:36871005|MESH:C535670 Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy. ORPHA:2305|MESH:C535670|SNOMEDCT:36871005|NCIT:C98929 http://purl.obolibrary.org/obo/MONDO_0016467 fetal retinoid syndrome|Accutane-exposed pregnancies|Isotretinoin (RoAccutane) embryopathy|Isotretinoin embryopathy|Isotretinoin teratogen syndrome|fetal isotretinoin syndrome|Retinoids embryopathy|Acutane embryopathy|Accutane fetal effects of|retinoic acid embryopathy|Isotretinoin fetal effects of ordo_malformation_syndrome|gard_rare MONDO:0016468 toxin-mediated infectious botulism biolink:Disease mondo Orphanet:230800|ICD10:A05.1 Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism). ORPHA:230800 http://purl.obolibrary.org/obo/MONDO_0016468 toxin-mediated infective botulism ordo_clinical_subtype MONDO:0016469 Ehlers-Danlos syndrome, vascular-like type biolink:Disease mondo Orphanet:230845|SCTID:720862007|ICD10:Q79.6|UMLS:CN201458 Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries. UMLS:CN201458|SNOMEDCT:720862007|ORPHA:230845 http://purl.obolibrary.org/obo/MONDO_0016469 EDS, vascular-like type ordo_disease MONDO:0016463 syndromic agammaglobulinemia biolink:Disease mondo Orphanet:229720|NCIT:C26931|UMLS:CN226939 A agammaglobulinemia that is part of a larger syndrome. UMLS:CN226939|ORPHA:229720|NCIT:C26931 http://purl.obolibrary.org/obo/MONDO_0016463 syndrome associated with agammaglobulinemia|syndrome associated with agammaglobulinemia|syndromic hypogammaglobulinemia|syndromic agammaglobulinemia|hypogammaglobulinemia ordo_group_of_disorders MONDO:0016464 insulin-resistance syndrome type B biolink:Disease mondo Orphanet:2298|UMLS:C0342337|GARD:0003009|ICD10:E13 Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction. ORPHA:2298|UMLS:C0342337 http://purl.obolibrary.org/obo/MONDO_0016464 insulin-resistance type B gard_rare|ordo_disease MONDO:0016465 obsolete multiple intestinal atresia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016465 MONDO:0016466 asbestosis biolink:Disease mondo EFO:0007153|UMLS:C0003949|DOID:10320|CSP:2596-4484|ICD9:501|NCIT:C84573|MESH:D001195|ICD10:J61|Orphanet:2302|GARD:0005852|SCTID:22607003|COHD:256450 A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain. UMLS:C0003949|MESH:D001195|ORPHA:2302|SNOMEDCT:22607003|NCIT:C84573|DOID:10320 http://purl.obolibrary.org/obo/MONDO_0016466 pulmonary fibrosis - from asbestos exposure|idiopathic interstitial pneumonitis - from asbestos exposure|asbestos intoxication|pneumoconiosis from asbestos dust|asbestos dust pneumoconiosis|asbestosis|asbestos pneumoconiosis|asbestos intoxination gard_rare|ordo_disease MONDO:0016460 polyvalvular heart disease syndrome biolink:Disease mondo UMLS:CN201425|ICD10:Q87.8|Orphanet:228410|UMLS:C4509918|SCTID:723448007 Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. UMLS:CN201425|SNOMEDCT:723448007|UMLS:C4509918|ORPHA:228410 http://purl.obolibrary.org/obo/MONDO_0016460 PHD syndrome ordo_malformation_syndrome MONDO:0016461 5q35 microduplication syndrome biolink:Disease mondo UMLS:CN201426|ICD10:Q92.3|Orphanet:228415|SCTID:719665003|UMLS:C4304526 The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. UMLS:CN201426|UMLS:C4304526|SNOMEDCT:719665003|ORPHA:228415 http://purl.obolibrary.org/obo/MONDO_0016461 dup(5)(q35)|trisomy 5q35 ordo_malformation_syndrome MONDO:0016462 isolated agammaglobulinemia biolink:Disease mondo SCTID:764858009|Orphanet:229717 Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. SNOMEDCT:764858009|ORPHA:229717 http://purl.obolibrary.org/obo/MONDO_0016462 isolated hypogammaglobulinemia|nonsyndromic agammaglobulinemia ordo_disease MONDO:0004489 fallopian tube gestational choriocarcinoma biolink:Disease mondo DOID:8186|UMLS:C1333593|NCIT:C6278 A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy. UMLS:C1333593|NCIT:C6278|DOID:8186 http://purl.obolibrary.org/obo/MONDO_0004489 gestational choriocarcinoma of the fallopian tube|gestational choriocarcinoma of fallopian tube|fallopian tube gestational choriocarcinoma MONDO:0004488 cervical atypical polypoid adenomyoma biolink:Disease mondo NCIT:C40234|UMLS:C1516409|DOID:8179 An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity. UMLS:C1516409|NCIT:C40234|DOID:8179 http://purl.obolibrary.org/obo/MONDO_0004488 GO:1901699 cellular response to nitrogen compound biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/GO_1901699 cellular response to nitrogen molecular entity MONDO:0004485 interstitial myocarditis biolink:Disease mondo DOID:817|SCTID:37925008|NCIT:C35786|UMLS:C0027060 Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present. SNOMEDCT:37925008|NCIT:C35786|DOID:817|UMLS:C0027060 http://purl.obolibrary.org/obo/MONDO_0004485 MONDO:0004484 gallbladder melanoma biolink:Disease mondo NCIT:C5735|DOID:8167|UMLS:C1333749 A melanoma that arises from the gallbladder. UMLS:C1333749|DOID:8167|NCIT:C5735 http://purl.obolibrary.org/obo/MONDO_0004484 gall bladder melanoma|melanoma of the gallbladder|melanoma of gallbladder|malignant melanoma of the gallbladder|melanoma (disease) of gall bladder|gallbladder malignant melanoma|gallbladder melanoma|gall bladder melanoma (disease)|malignant melanoma of gallbladder MONDO:0004487 endometrial type cervical adenomyoma biolink:Disease mondo NCIT:C40233|UMLS:C1516406|DOID:8178 An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia. NCIT:C40233|DOID:8178|UMLS:C1516406 http://purl.obolibrary.org/obo/MONDO_0004487 cervical adenomyoma, endometrial type MONDO:0004486 endocervical type cervical adenomyoma biolink:Disease mondo NCIT:C40232|UMLS:C1516405|DOID:8177 An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present. NCIT:C40232|DOID:8177|UMLS:C1516405 http://purl.obolibrary.org/obo/MONDO_0004486 cervical adenomyoma, endocervical type GO:1901698 response to nitrogen compound biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen molecular entity MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma biolink:Disease mondo DOID:8150|NCIT:C5726|UMLS:C1518871|ICDO:8453/3 A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma. DOID:8150|NCIT:C5726|UMLS:C1518871 http://purl.obolibrary.org/obo/MONDO_0004481 pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma|pancreatic invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma MONDO:0004480 obsolete pancreatic invasive intraductal papillary-mucinous carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004480 MONDO:0004483 thyroid gland oncocytic adenoma biolink:Disease mondo DOID:8162|UMLS:C1336750|ONCOTREE:OAT|NCIT:C6042 A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli. NCIT:C6042|DOID:8162|UMLS:C1336750 http://purl.obolibrary.org/obo/MONDO_0004483 thyroid gland oncocytic adenoma|thyroid gland Hurthle cell adenoma|Hurthle cell adenoma|OAT|oncocytic adenoma of the thyroid gland|follicular adenoma of the thyroid of the oxyphilic cell type|thyroid gland follicular adenoma of the oxyphilic cell type|follicular adenoma of thyroid of oxyphilic cell type|oncocytic adenoma of thyroid gland|oncocytic adenoma of the thyroid|thyroid gland follicular adenoma of oxyphilic cell type|thyroid oncocytic adenoma|benign oncocytoma of the thyroid|Hurthle cell adenoma of the thyroid gland|oncocytic adenoma of thyroid|thyroid follicular adenoma of the oxyphilic cell type|follicular adenoma of the thyroid gland of the oxyphilic cell type|follicular adenoma of thyroid gland of oxyphilic cell type|Hurthle cell adenoma of thyroid gland|thyroid follicular adenoma of oxyphilic cell type|benign thyroid oncocytoma|Hurthle cell adenoma of the thyroid|Hurthle cell adenoma of thyroid|benign oncocytoma of the thyroid gland|benign thyroid gland oncocytoma|benign oncocytoma of thyroid gland|benign oncocytoma of the thyroid|thyroid Hurthle cell adenoma|benign oncocytoma of thyroid MONDO:0004482 fibroosseous pseudotumor of the digits biolink:Disease mondo ICD9:215.9|UMLS:C1333612|SCTID:403991009|NCIT:C6573|DOID:8153 A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion. UMLS:C1333612|SNOMEDCT:403991009|NCIT:C6573|DOID:8153 http://purl.obolibrary.org/obo/MONDO_0004482 fibroosseous pseudotumor of digits|fibroosseous pseudotumor of the digits|fibroosseous digital pseudotumor MONDO:0016456 5q14.3 microdeletion syndrome biolink:Disease mondo Orphanet:228384|SCTID:719661007|GARD:0012166|ICD10:Q93.5 The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. SNOMEDCT:719661007|ORPHA:228384 http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 deletion syndrome|monosomy 5q14.3|Del(5)(q14.3)|chromosome 5q14.3 deletion syndrome|autosomal dominant intellectual disability 20 ordo_malformation_syndrome MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome biolink:Disease mondo Orphanet:228396|UMLS:CN201421|ICD10:Q87.0 Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. ORPHA:228396|UMLS:CN201421 http://purl.obolibrary.org/obo/MONDO_0016457 ordo_malformation_syndrome MONDO:0016458 8q12 microduplication syndrome biolink:Disease mondo ICD10:Q92.3|GARD:0012816|Orphanet:228399|UMLS:C4304504|UMLS:CN201422|SCTID:719684000 The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. ORPHA:228399|UMLS:CN201422|SNOMEDCT:719684000|UMLS:C4304504 http://purl.obolibrary.org/obo/MONDO_0016458 dup(8)(q12)|chromosome 8q12 microduplication syndrome|trisomy 8q12 gard_rare|ordo_malformation_syndrome MONDO:0016459 2q23.1 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|SCTID:719657001|GARD:0010998|Orphanet:228402 The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. SNOMEDCT:719657001|ORPHA:228402 http://purl.obolibrary.org/obo/MONDO_0016459 pseudo-Angelman syndrome|Del(2)(q23.1)|monosomy 2q23.1|chromosome 2q23.1 microdeletion syndrome gard_rare|ordo_malformation_syndrome MONDO:0016452 idiopathic hypersomnia without long sleep time biolink:Disease mondo ICD9:327.12|ICD10:G47.12|UMLS:C1561855|Orphanet:228318|SCTID:442292004|ICD10:F51.1 Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening. ORPHA:228318|UMLS:C1561855|SNOMEDCT:442292004 http://purl.obolibrary.org/obo/MONDO_0016452 ordo_clinical_subtype MONDO:0016453 foodborne botulism biolink:Disease mondo ICD10:A05.1|SCTID:398523009|Orphanet:228371|UMLS:C1739094|COHD:443444|ICD9:005.1|NCIT:C128341|DOID:0050352 Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs. UMLS:C1739094|ORPHA:228371|SNOMEDCT:398523009|DOID:0050352|NCIT:C128341 http://purl.obolibrary.org/obo/MONDO_0016453 intoxication botulism ordo_clinical_subtype MONDO:0016454 severe early-onset axonal neuropathy due to NEFL deficiency biolink:Disease mondo Orphanet:228374|ICD10:G60.0 Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. ORPHA:228374 http://purl.obolibrary.org/obo/MONDO_0016454 severe early-onset axonal neuropathy due to light neurofilament subunit deficiency|autosomal recessive Charcot-Marie-Tooth disease type 2B5|SEOAN due to NEFL deficiency|AR-CMT2B5|Charcot-Marie-Tooth disease type 2B5 ordo_disease MONDO:0016455 virus-associated trichodysplasia spinulosa biolink:Disease mondo UMLS:C3267126|Orphanet:228379 Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients. ORPHA:228379|UMLS:C3267126 http://purl.obolibrary.org/obo/MONDO_0016455 TS|pilomatrix dysplasia|VATS|Cyclosporine-induced folliculodystrophy|trichodysplasia spinulosa ordo_disease MONDO:0016450 autoimmune hemolytic anemia, cold type biolink:Disease mondo UMLS:CN201401|ICD10:D59.1|Orphanet:228312 Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH). ORPHA:228312|UMLS:CN201401 http://purl.obolibrary.org/obo/MONDO_0016450 cold AIHA|cAHA|cAIHA ordo_group_of_disorders MONDO:0016451 idiopathic hypersomnia with long sleep time biolink:Disease mondo ICD9:327.11|UMLS:C2711059|ICD10:F51.1|ICD10:G47.11|Orphanet:228315|SCTID:442416002 Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia. ORPHA:228315|UMLS:C2711059|SNOMEDCT:442416002 http://purl.obolibrary.org/obo/MONDO_0016451 ordo_clinical_subtype MONDO:0004459 bladder hepatoid adenocarcinoma biolink:Disease mondo NCIT:C39838|DOID:8097|UMLS:C1511189 A hepatoid adenocarcinoma that involves the urinary bladder. NCIT:C39838|DOID:8097|UMLS:C1511189 http://purl.obolibrary.org/obo/MONDO_0004459 bladder hepatoid adenocarcinoma MONDO:0004456 cocaine abuse biolink:Disease mondo ICD9:305.6|DOID:809|SCTID:78267003|ICD9:305.60|ICD10:F14.1 Disorders related or resulting from use of cocaine. DOID:809|SNOMEDCT:78267003 http://purl.obolibrary.org/obo/MONDO_0004456 MONDO:0004455 classic congenital mesoblastic nephroma biolink:Disease mondo NCIT:C39814|DOID:8083|UMLS:C1516475 A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. NCIT:C39814|DOID:8083|UMLS:C1516475 http://purl.obolibrary.org/obo/MONDO_0004455 classic congenital mesoblastic nephroma MONDO:0004458 bladder mixed adenocarcinoma biolink:Disease mondo UMLS:C1511192|DOID:8096|NCIT:C39839 DOID:8096|NCIT:C39839|UMLS:C1511192 http://purl.obolibrary.org/obo/MONDO_0004458 MONDO:0004457 maxillary sinus Schneiderian papilloma biolink:Disease mondo UMLS:C1334646|NCIT:C6839|DOID:8093 A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma. NCIT:C6839|DOID:8093|UMLS:C1334646 http://purl.obolibrary.org/obo/MONDO_0004457 Schneiderian papilloma of the maxillary sinus|paranasal sinus Schneiderian papilloma of maxillary sinus|Schneiderian papilloma of maxillary sinus|maxillary sinus paranasal sinus Schneiderian papilloma|maxillary sinus Schneiderian papilloma MONDO:0004452 childhood central nervous system germinoma biolink:Disease mondo DOID:8078|UMLS:C1332953|NCIT:C27406 A germinoma arising from the central nervous system during childhood. DOID:8078|UMLS:C1332953|NCIT:C27406 http://purl.obolibrary.org/obo/MONDO_0004452 Central nervous system germinoma|central nervous system germinoma of childhood|pediatric central nervous system germinoma|pediatric central nervous system germinoma MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma biolink:Disease mondo UMLS:C1519184|DOID:8072|NCIT:C41620 A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells. DOID:8072|NCIT:C41620|UMLS:C1519184 http://purl.obolibrary.org/obo/MONDO_0004451 sarcomatoid intrahepatic cholangiocarcinoma|intrahepatic cholangiocarcinoma with extensive sarcomatous changes MONDO:0004454 cellular congenital mesoblastic nephroma biolink:Disease mondo NCIT:C39815|DOID:8082|UMLS:C1516474 A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. DOID:8082|NCIT:C39815|UMLS:C1516474 http://purl.obolibrary.org/obo/MONDO_0004454 cellular congenital mesoblastic nephroma MONDO:0004453 testicular yolk sac tumor, myxomatous pattern biolink:Disease mondo UMLS:C1515309|DOID:8081|NCIT:C39929 A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli. DOID:8081|NCIT:C39929|UMLS:C1515309 http://purl.obolibrary.org/obo/MONDO_0004453 testicular yolk sac tumor, myxomatous pattern|myxomatous pattern testicular yolk sac tumor MONDO:0004450 carotid artery occlusion biolink:Disease mondo SCTID:266254007|DOID:807|UMLS:C0265101|ICD9:433.10 A occlusion precerebral artery that involves the carotid artery segment. SNOMEDCT:266254007|UMLS:C0265101|DOID:807 http://purl.obolibrary.org/obo/MONDO_0004450 occlusion and stenosis of carotid artery|carotid artery segment occlusion precerebral artery|occlusion precerebral artery of carotid artery segment MONDO:0041440 obsolete functional visual loss biolink:Disease mondo UMLS:C0730512|SCTID:313165001 SNOMEDCT:313165001|UMLS:C0730512 http://purl.obolibrary.org/obo/MONDO_0041440 nonphysiologic acuity loss|functional visual loss|nonphysiologic vision loss MONDO:0016449 mid-dermal elastolysis biolink:Disease mondo Orphanet:228299 ORPHA:228299 http://purl.obolibrary.org/obo/MONDO_0016449 ordo_disease MONDO:0016445 familial anetoderma biolink:Disease mondo Orphanet:228277|ICD10:L90.8|UMLS:CN226934|SCTID:733467001|UMLS:C4518793 Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. ORPHA:228277|UMLS:C4518793|UMLS:CN226934|SNOMEDCT:733467001 http://purl.obolibrary.org/obo/MONDO_0016445 hereditary macular atrophy|hereditary anetoderma ordo_disease MONDO:0016446 acquired cutis laxa biolink:Disease mondo UMLS:C0406549|SCTID:19726003|Orphanet:228285 An instance of cutis laxa that is acquired during the lifetime of the individual. SNOMEDCT:19726003|ORPHA:228285|UMLS:C0406549 http://purl.obolibrary.org/obo/MONDO_0016446 cutis laxa acquisita|acquired cutis laxa ordo_disease MONDO:0016447 white fibrous papulosis of the neck biolink:Disease mondo UMLS:CN226935|Orphanet:228290 White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region. ORPHA:228290|UMLS:CN226935 http://purl.obolibrary.org/obo/MONDO_0016447 ordo_disease MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis biolink:Disease mondo Orphanet:228293|SCTID:764105002 Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement. SNOMEDCT:764105002|ORPHA:228293 http://purl.obolibrary.org/obo/MONDO_0016448 PXE-like papillary dermal elastolysis|PXE-PDE ordo_disease MONDO:0016441 acquired pseudoxanthoma elasticum biolink:Disease mondo SCTID:403401007|UMLS:C1274759|ICD9:757.39|Orphanet:228247 A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type. UMLS:C1274759|SNOMEDCT:403401007|ORPHA:228247 http://purl.obolibrary.org/obo/MONDO_0016441 acquired pseudoxanthoma elasticum|acquired Gronblad-Strandberg-Touraine syndrome|acquired pseudoxanthoma elasticum (inherited or acquired)|localized acquired cutaneous pseudoxanthoma elasticum|acquired PXE ordo_disease MONDO:0016442 elastoma biolink:Disease mondo Orphanet:228254|UMLS:C0473583|ICD9:215.9|SCTID:239140003 ORPHA:228254|SNOMEDCT:239140003|UMLS:C0473583 http://purl.obolibrary.org/obo/MONDO_0016442 Nevus elasticus|juvenile elastoma without osteopoikilosis|Weidman juvenile elastoma ordo_disease MONDO:0016443 papular elastorrhexis biolink:Disease mondo SCTID:239138008|Orphanet:228264|UMLS:C0406816|UMLS:C0473584|NCIT:C4707 An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities. SNOMEDCT:239138008|ORPHA:228264|NCIT:C4707|UMLS:C0406816|UMLS:C0473584 http://purl.obolibrary.org/obo/MONDO_0016443 disseminated nevus anelasticus|eruptive collagenoma|Nevus anelasticus ordo_disease MONDO:0016444 primary anetoderma biolink:Disease mondo SCTID:238829001|ICD10:L90.2|ICD10:L90.1|Orphanet:228272|MESH:D057088|UMLS:C0406550 Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause. MESH:D057088|ORPHA:228272|SNOMEDCT:238829001|UMLS:C0406550 http://purl.obolibrary.org/obo/MONDO_0016444 primary macular atrophy ordo_disease MONDO:0016440 elastofibroma dorsi biolink:Disease mondo Orphanet:228243|UMLS:C0334460|NCIT:C4245|UMLS:CN226932|ICDO:8820/0 A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules. NCIT:C4245|UMLS:C0334460|ORPHA:228243|UMLS:CN226932 http://purl.obolibrary.org/obo/MONDO_0016440 Elastofibroma ordo_disease GO:0070161 anchoring junction biolink:OntologyClass mondo A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. http://purl.obolibrary.org/obo/GO_0070161 anchoring cell junction MONDO:0004467 mature gastric teratoma biolink:Disease mondo UMLS:C1334635|NCIT:C5260|DOID:8118 A benign teratoma that arises from the stomach. DOID:8118|UMLS:C1334635|NCIT:C5260 http://purl.obolibrary.org/obo/MONDO_0004467 mature teratoma of the stomach|mature gastric teratoma|mature teratoma of stomach|stomach mature teratoma MONDO:0004466 neuronitis biolink:Disease mondo UMLS:C0027881|NCIT:C34847|DOID:8117 DOID:8117|UMLS:C0027881|NCIT:C34847 http://purl.obolibrary.org/obo/MONDO_0004466 neuroinflammation MONDO:0004469 pseudovascular skin squamous cell carcinoma biolink:Disease mondo UMLS:C1335974|DOID:8122|NCIT:C27542 NCIT:C27542|DOID:8122|UMLS:C1335974 http://purl.obolibrary.org/obo/MONDO_0004469 skin pseudovascular squamous cell carcinoma|pseudovascular skin squamous cell carcinoma MONDO:0004468 anal canal Paget disease biolink:Disease mondo UMLS:C1332261|NCIT:C7477|SCTID:236811000119101|DOID:8119 Paget disease involving the squamous epithelium of the anal canal. DOID:8119|SNOMEDCT:236811000119101|UMLS:C1332261|NCIT:C7477 http://purl.obolibrary.org/obo/MONDO_0004468 anal canal mammary Paget's disease|Paget disease of the anal canal|anal canal Paget disease|Paget's disease of anal canal|Paget's disease of the anal canal|anal canal Paget's disease MONDO:0004463 cellular phase chronic idiopathic myelofibrosis biolink:Disease mondo ONCOTREE:PMFPES|UMLS:C1516553|DOID:8106|NCIT:C41237 Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow. NCIT:C41237|UMLS:C1516553|DOID:8106 http://purl.obolibrary.org/obo/MONDO_0004463 primary myelofibrosis, Prefibrotic/early stage|Prefibrotic/Early Primary myelofibrosis|chronic idiopathic myelofibrosis, cellular phase|primary myelofibrosis, Prefibrotic stage|PMFPES|Prefibrotic/Early Primary myelofibrosis|chronic idiopathic myelofibrosis, Prefibrotic stage MONDO:0004462 extrahepatic bile duct cystadenoma biolink:Disease mondo UMLS:C1333504|NCIT:C5851|DOID:8105 A mucinous cystic neoplasm that arises from the extrahepatic bile ducts. NCIT:C5851|UMLS:C1333504|DOID:8105 http://purl.obolibrary.org/obo/MONDO_0004462 cystadenoma of extrahepatic bile duct|extrahepatic bile duct cystadenoma|cystadenoma of the extrahepatic bile duct|extrahepatic bile duct mucinous cystic neoplasm MONDO:0004465 periampullary adenocarcinoma biolink:Disease mondo UMLS:C1335377|DOID:8110|NCIT:C27322 An adenocarcinoma that arises from the periampullary region. DOID:8110|UMLS:C1335377|NCIT:C27322 http://purl.obolibrary.org/obo/MONDO_0004465 periampullary region of duodenum adenocarcinoma|periampullary cancer|periampullary adenocarcinoma MONDO:0004464 nephrogenic adenoma of the urethra biolink:Disease mondo DOID:8109|UMLS:C1336889|NCIT:C7416 A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. DOID:8109|UMLS:C1336889|NCIT:C7416 http://purl.obolibrary.org/obo/MONDO_0004464 urethra nephrogenic adenoma|nephrogenic adenoma of urethra|urethral nephrogenic adenoma MONDO:0004461 vaginal tubulovillous adenoma biolink:Disease mondo UMLS:C1519933|NCIT:C40258|DOID:8104 An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern. NCIT:C40258|UMLS:C1519933|DOID:8104 http://purl.obolibrary.org/obo/MONDO_0004461 vaginal tubulovillous adenoma MONDO:0004460 thyroid gland fetal adenoma biolink:Disease mondo ICDO:8333/0|UMLS:C0334328|DOID:8102|NCIT:C4160 A thyroid gland adenoma composed of microfollicular structures. NCIT:C4160|DOID:8102|UMLS:C0334328 http://purl.obolibrary.org/obo/MONDO_0004460 thyroid gland microfollicular adenoma|thyroid fetal adenoma|fetal adenoma|microfollicular adenoma (morphologic abnormality)|microfollicular adenoma MONDO:0016438 linear focal dermal elastosis biolink:Disease mondo Orphanet:228236 Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis. ORPHA:228236 http://purl.obolibrary.org/obo/MONDO_0016438 Elastotic striae|linear focal elastosis ordo_disease MONDO:0016439 elastoderma biolink:Disease mondo GARD:0012716|Orphanet:228240|SCTID:238832003|UMLS:C0406555|ICD9:701.8 Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery. ORPHA:228240|UMLS:C0406555|SNOMEDCT:238832003 http://purl.obolibrary.org/obo/MONDO_0016439 gard_rare|ordo_disease MONDO:0016434 acquired dermis elastic tissue disorder biolink:Disease mondo UMLS:CN226927|Orphanet:228218 An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual. ORPHA:228218|UMLS:CN226927 http://purl.obolibrary.org/obo/MONDO_0016434 acquired dermis elastic tissue disorder ordo_group_of_disorders MONDO:0016435 acquired dermis elastic tissue disorder with decreased elastic tissue biolink:Disease mondo UMLS:CN226928|Orphanet:228221 ORPHA:228221|UMLS:CN226928 http://purl.obolibrary.org/obo/MONDO_0016435 ordo_group_of_disorders MONDO:0041447 metastatic malignant neoplasm in the colon biolink:Disease mondo NCIT:C8411|UMLS:C0346974 The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site. NCIT:C8411|UMLS:C0346974 http://purl.obolibrary.org/obo/MONDO_0041447 metastatic malignant neoplasm in the colon|metastatic tumor to the colon|metastatic neoplasm to the colon|metastatic malignant neoplasm to the colon MONDO:0016436 acquired dermis elastic tissue disorder with increased elastic tissue biolink:Disease mondo UMLS:CN226929|Orphanet:228224 ORPHA:228224|UMLS:CN226929 http://purl.obolibrary.org/obo/MONDO_0016436 ordo_group_of_disorders MONDO:0041448 metastasis from malignant tumor of colon biolink:Disease mondo SCTID:314998002|UMLS:C1282500 UMLS:C1282500|SNOMEDCT:314998002 http://purl.obolibrary.org/obo/MONDO_0041448 metastasis from malignant tumor of colon MONDO:0016437 late-onset focal dermal elastosis biolink:Disease mondo Orphanet:228227 Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits. ORPHA:228227 http://purl.obolibrary.org/obo/MONDO_0016437 pseudoxanthoma-like late-onset focal dermal elastosis|PXE-like late-onset focal dermal elastosis ordo_disease MONDO:0016430 Balo concentric sclerosis biolink:Disease mondo Orphanet:228165|ICD10:G37.0|ICD9:341.1|MedDRA:10010252|DOID:0060215|ICD10:G37.5|SCTID:230380005|UMLS:C0004712|ICD10:G31.81|GARD:0005885 Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity. ORPHA:228165|UMLS:C0004712|MEDDRA:10010252|SNOMEDCT:230380005|DOID:0060215 http://purl.obolibrary.org/obo/MONDO_0016430 Balo disease|encephalitis periaxialis concentrica|Marburg variant|Balo's disease|Balo concentric sclerosis|concentric demyelination|diffuse cerebral sclerosis of Schilder|Tumefactive multiple sclerosis|Baló concentric sclerosis|Balo's concentric sclerosis gard_rare|ordo_disease MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M biolink:Disease mondo SCTID:719514002|Orphanet:228179|UMLS:CN201389|UMLS:C4304672|ICD10:G60.0 Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. SNOMEDCT:719514002|ORPHA:228179|UMLS:CN201389|UMLS:C4304672 http://purl.obolibrary.org/obo/MONDO_0016431 CMT2M ordo_disease MONDO:0016432 heart-hand syndrome biolink:Disease mondo UMLS:CN201390|ICD10:Q87.2|Orphanet:228184 Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies. ORPHA:228184|UMLS:CN201390 http://purl.obolibrary.org/obo/MONDO_0016432 atriodigital dysplasia ordo_group_of_disorders MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome biolink:Disease mondo UMLS:CN201392|Orphanet:2282|ICD10:Q87.8 Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. ORPHA:2282|UMLS:CN201392 http://purl.obolibrary.org/obo/MONDO_0016433 Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome ordo_malformation_syndrome HGNC:28514 CEP112 biolink:OntologyClass mondo http://identifiers.org/hgnc/28514 GO:0070192 chromosome organization involved in meiotic cell cycle biolink:OntologyClass mondo A process of chromosome organization that is involved in a meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0070192 chromosome organisation involved in meiosis|meiotic chromosome organization HGNC:28510 GLIS3 biolink:OntologyClass mondo http://identifiers.org/hgnc/28510 NCBITaxon:33213 Bilateria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33213 MONDO:0016490 hemoglobin C-beta-thalassemia syndrome biolink:Disease mondo Orphanet:231242|UMLS:CN201488|ICD10:D58.2 Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia. ORPHA:231242|UMLS:CN201488 http://purl.obolibrary.org/obo/MONDO_0016490 C-beta-thalassemia|HBC-beta-thalassemia syndrome ordo_disease MONDO:0016491 hemoglobin E-beta-thalassemia syndrome biolink:Disease mondo UMLS:C0472777|ICD10:D58.2|Orphanet:231249 Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia. UMLS:C0472777|ORPHA:231249 http://purl.obolibrary.org/obo/MONDO_0016491 E-beta-thalassemia|HbE-beta-thalassemia syndrome ordo_disease HGNC:28526 EOGT biolink:OntologyClass mondo http://identifiers.org/hgnc/28526 GO:0033152 immunoglobulin V(D)J recombination biolink:OntologyClass mondo The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V-D-J joining|immunoglobulin V-J recombination|immunoglobulin V-J joining|immunoglobulin V-D-J recombination|immunoglobulin V(D)J joining GO:0033151 V(D)J recombination biolink:OntologyClass mondo The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/GO_0033151 V-D-J recombination|V-D-J joining|V-J recombination|V-J joining|V(D)J joining HP:0007513 Generalized hypopigmentation biolink:PhenotypicFeature mondo UMLS:C1849923 http://purl.obolibrary.org/obo/HP_0007513 Generalised hypopigmentation|Pale pigmentation|Fair skin hposlim_core NCBITaxon:33208 Metazoa organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33208 metazoans|animals|multicellular animals|Animalia MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome biolink:Disease mondo UMLS:CN201499|ICD10:G61.0|Orphanet:231426 ORPHA:231426|UMLS:CN201499 http://purl.obolibrary.org/obo/MONDO_0016496 pharyngo-cervico-brachial variant of Guillain-Barré syndrome|PCB variant of Guillain-BarrC) syndrome|pharyngo-cervico-brachial variant of GBS|pharyngeal-cervical-brachial weakness|PCB variant of Guillain-Barré syndrome|pharyngeal-cervical-brachial variant of Guillain-Barré syndrome|pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome|PCB variant of GBS ordo_disease MONDO:0016497 paraparetic variant of Guillain-Barre syndrome biolink:Disease mondo Orphanet:231445|UMLS:CN201500|ICD10:G61.0 Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal. UMLS:CN201500|ORPHA:231445 http://purl.obolibrary.org/obo/MONDO_0016497 paraparetic variant of GBS|paraparetic variant of Guillain-Barré syndrome ordo_disease MONDO:0016498 acute pure sensory neuropathy biolink:Disease mondo Orphanet:231450|UMLS:CN201501|ICD10:G61.0 UMLS:CN201501|ORPHA:231450 http://purl.obolibrary.org/obo/MONDO_0016498 acute pure sensory Guillain-Barré syndrome|acute pure sensory GBS|acute pure sensory Guillain-BarrC) syndrome ordo_disease MONDO:0016499 acute pandysautonomia biolink:Disease mondo Orphanet:231457|UMLS:C2315246|ICD10:G61.0|SCTID:430042004 Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating. UMLS:C2315246|SNOMEDCT:430042004|ORPHA:231457 http://purl.obolibrary.org/obo/MONDO_0016499 acute panautonomic Guillain-BarrC) syndrome|acute panautonomic neuropathy|acute panautonomic Guillain-Barré syndrome|acute panautonomic GBS ordo_disease GO:0033157 regulation of intracellular protein transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells. http://purl.obolibrary.org/obo/GO_0033157 MONDO:0016492 beta-thalassemia with other manifestations biolink:Disease mondo ICD10:D58.2|Orphanet:231386 Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder. ORPHA:231386 http://purl.obolibrary.org/obo/MONDO_0016492 ordo_group_of_disorders MONDO:0016493 variant of Guillain-Barre syndrome biolink:Disease mondo UMLS:CN201495|ICD10:G61.0|Orphanet:231413 ORPHA:231413|UMLS:CN201495 http://purl.obolibrary.org/obo/MONDO_0016493 variant of Guillain-Barré syndrome|variant of GBS ordo_group_of_disorders MONDO:0016494 regional variant of Guillain-Barre syndrome biolink:Disease mondo ICD10:G61.0|UMLS:CN201496|Orphanet:231416 ORPHA:231416|UMLS:CN201496 http://purl.obolibrary.org/obo/MONDO_0016494 regional variant of Guillain-Barré syndrome|regional variant of GBS ordo_group_of_disorders MONDO:0016495 functional variant of Guillain-Barre syndrome biolink:Disease mondo UMLS:CN201497|ICD10:G61.0|Orphanet:231419 ORPHA:231419|UMLS:CN201497 http://purl.obolibrary.org/obo/MONDO_0016495 functional variant of GBS|functional variant of Guillain-Barré syndrome ordo_group_of_disorders MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 biolink:Disease mondo UMLS:CN201475|ICD10:Q87.1|Orphanet:231140 ORPHA:231140|UMLS:CN201475 http://purl.obolibrary.org/obo/MONDO_0016480 Silver-Russell syndrome due to an imprinting defect of type 11p15 ordo_etiological_subtype MONDO:0004499 lung hilum carcinoma biolink:Disease mondo NCIT:C7454|UMLS:C1334445|DOID:8207 A lung carcinoma arising from the hilum of the lung. NCIT:C7454|DOID:8207|UMLS:C1334445 http://purl.obolibrary.org/obo/MONDO_0004499 hilar lung carcinoma|lung hilum carcinoma|carcinoma of lung hilus|lung hilus carcinoma|lung hilum cancer MONDO:0004496 myocarditis biolink:Disease mondo COHD:314383|SCTID:50920009|MESH:D009205|KEGG:05416|ICD10:I40|DOID:820|UMLS:C0027059|ICD10:I51.4|GARD:0007137|NCIT:C34831|ICD9:429.0 Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak. MESH:D009205|DOID:820|NCIT:C34831|SNOMEDCT:50920009|UMLS:C0027059 http://purl.obolibrary.org/obo/MONDO_0004496 myocardium inflammation|myocardial inflammation|inflammation of myocardium|myocardial inflammation (finding) gard_rare MONDO:0004495 myotonic cataract biolink:Disease mondo SCTID:64741003|UMLS:C0027128|ICD9:366.43|DOID:82|NCIT:C34833|ICD9:359.29 A cataract occurring as a sequela of myotonic dystrophy. NCIT:C34833|DOID:82|UMLS:C0027128|SNOMEDCT:64741003 http://purl.obolibrary.org/obo/MONDO_0004495 MONDO:0004498 sacral spinal canal and spinal cord meningioma biolink:Disease mondo NCIT:C5299|UMLS:C1335893|DOID:8203 A meningioma that arises from the meninges of the sacral region of the spinal cord. NCIT:C5299|DOID:8203|UMLS:C1335893 http://purl.obolibrary.org/obo/MONDO_0004498 meningioma of sacral spinal canal and spinal cord|meningioma of the sacral spinal canal and spinal cord|sacral intraspinal meningioma MONDO:0004497 tertiary syphilis biolink:Disease mondo UMLS:C0153188|COHD:435739|NCIT:C128414|ICD10:A52|ICD9:097.0|ICD9:095.9|ICD10:A52.9|ICD10:A52.3|MESH:C536774|DOID:8200|SCTID:72083004|ICD9:095.8 A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis). NCIT:C128414|SNOMEDCT:72083004|MESH:C536774|UMLS:C0153188|DOID:8200 http://purl.obolibrary.org/obo/MONDO_0004497 late tertiary syphilis|tertiary syphilis|late syphilis MONDO:0004492 mediastinitis biolink:Disease mondo SCTID:47597000|ICD9:519.2|MESH:D008480|ICD10:J98.51|UMLS:C0025064|NCIT:C26827|DOID:819|ICD10:J98.5|COHD:439045 An inflammatory process affecting the mediastinum. UMLS:C0025064|MESH:D008480|DOID:819|SNOMEDCT:47597000|NCIT:C26827 http://purl.obolibrary.org/obo/MONDO_0004492 MONDO:0004491 uterine corpus choriocarcinoma biolink:Disease mondo NCIT:C27246|ONCOTREE:UCCA|DOID:8188|UMLS:C1336904 An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. NCIT:C27246|DOID:8188|UMLS:C1336904 http://purl.obolibrary.org/obo/MONDO_0004491 choriocarcinoma|gestational uterine corpus choriocarcinoma|body of uterus choriocarcinoma (disease)|uterine corpus gestational choriocarcinoma MONDO:0004494 testicular yolk sac tumor, hepatoid pattern biolink:Disease mondo DOID:8195|UMLS:C1515306|NCIT:C39931 A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections. DOID:8195|NCIT:C39931|UMLS:C1515306 http://purl.obolibrary.org/obo/MONDO_0004494 hepatoid pattern testicular yolk sac tumor|testicular yolk sac tumor, hepatoid pattern MONDO:0004493 testicular yolk sac tumor, papillary pattern biolink:Disease mondo DOID:8193|UMLS:C1515310|NCIT:C39928 A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli. NCIT:C39928|DOID:8193|UMLS:C1515310 http://purl.obolibrary.org/obo/MONDO_0004493 papillary pattern testicular yolk sac tumor|testicular yolk sac tumor, papillary pattern HGNC:16517 TMPRSS6 biolink:OntologyClass mondo http://identifiers.org/hgnc/16517 MONDO:0004490 gestational uterine corpus choriocarcinoma biolink:Disease mondo DOID:8187 A gestational choriocarcinoma that involves the body of uterus. DOID:8187 http://purl.obolibrary.org/obo/MONDO_0004490 gestational choriocarcinoma of body of uterus|body of uterus gestational choriocarcinoma MONDO:0016489 delta-beta-thalassemia biolink:Disease mondo Orphanet:231237|ICD10:D56.2|ICD9:282.49|MESH:C562716|SCTID:16360009|MedDRA:10012236 Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. ORPHA:231237|UMLS:C0271985|MESH:C562716|MEDDRA:10012236|SNOMEDCT:16360009 http://purl.obolibrary.org/obo/MONDO_0016489 ordo_disease CARO:0030000 biological entity biolink:OntologyClass mondo http://purl.obolibrary.org/obo/CARO_0030000 HGNC:16513 TMC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16513 MONDO:0016485 Usher syndrome type 3 biolink:Disease mondo Orphanet:231183|UMLS:C1568248|GARD:0005442|NCIT:C126329|ICD10:H35.5|DOID:0110828 A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life. UMLS:C1568248|NCIT:C126329|DOID:0110828|ORPHA:231183 http://purl.obolibrary.org/obo/MONDO_0016485 USH3 ordo_clinical_subtype HGNC:16510 FBXO31 biolink:OntologyClass mondo http://identifiers.org/hgnc/16510 MONDO:0016486 beta-thalassemia major biolink:Disease mondo Orphanet:231214|NCIT:C129699|SCTID:26682008|ICD9:282.49|ICD10:D56.1 Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. NCIT:C129699|SNOMEDCT:26682008|ORPHA:231214 http://purl.obolibrary.org/obo/MONDO_0016486 Mediterranean anemia|Cooley's Anemia|Cooley anemia|Beta thalassemia Major ordo_clinical_subtype MONDO:0016487 beta-thalassemia intermedia biolink:Disease mondo MedDRA:10062923|SCTID:191189009|Orphanet:231222|ICD9:282.49|ICD10:D56.1 Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. MEDDRA:10062923|SNOMEDCT:191189009|UMLS:C0472767|ORPHA:231222 http://purl.obolibrary.org/obo/MONDO_0016487 ordo_clinical_subtype HGNC:16512 BSND biolink:OntologyClass mondo http://identifiers.org/hgnc/16512 MONDO:0016488 beta-thalassemia associated with another hemoglobin anomaly biolink:Disease mondo ICD10:D58.2|Orphanet:231230 Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]. ORPHA:231230 http://purl.obolibrary.org/obo/MONDO_0016488 Beta-thalassemia associated with another Hb anomaly ordo_group_of_disorders MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication biolink:Disease mondo UMLS:CN201476|Orphanet:231144|ICD10:Q87.1 ORPHA:231144|UMLS:CN201476 http://purl.obolibrary.org/obo/MONDO_0016481 ordo_etiological_subtype GO:0033145 positive regulation of intracellular steroid hormone receptor signaling pathway biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. http://purl.obolibrary.org/obo/GO_0033145 positive regulation of steroid hormone receptor signalling pathway|positive regulation of steroid hormone receptor signaling pathway MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 biolink:Disease mondo Orphanet:231147|UMLS:CN201477|ICD10:Q87.1 ORPHA:231147|UMLS:CN201477 http://purl.obolibrary.org/obo/MONDO_0016482 UPD(11)mat|Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11 ordo_etiological_subtype GO:0033144 negative regulation of intracellular steroid hormone receptor signaling pathway biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. http://purl.obolibrary.org/obo/GO_0033144 negative regulation of steroid hormone receptor signaling pathway|negative regulation of steroid hormone receptor signalling pathway MONDO:0016483 intracranial berry aneurysm biolink:Disease mondo Orphanet:231160|HP:0007029|SCTID:703226008|ICD10:I67.1|UMLS:CN230268|DOID:0060228|OMIMPS:105800|ICD10:I60.7 An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. DOID:0060228|SNOMEDCT:703226008|ORPHA:231160|UMLS:CN230268 http://purl.obolibrary.org/obo/MONDO_0016483 familial berry aneurysm|aneurysm, intracranial berry|saccular cerebral aneurysm|familial intracranial saccular aneurysm|familial cerebral saccular aneurysm|familial aneurysmal subarachnoid hemorrhage ordo_disease GO:0033143 regulation of intracellular steroid hormone receptor signaling pathway biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. http://purl.obolibrary.org/obo/GO_0033143 regulation of steroid hormone receptor signaling pathway|regulation of steroid hormone receptor signalling pathway MONDO:0016484 Usher syndrome type 2 biolink:Disease mondo UMLS:C0339534|ICD10:H35.5|Orphanet:231178|NCIT:C126328|SCTID:232058008|DOID:0110827 A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa. UMLS:C0339534|SNOMEDCT:232058008|NCIT:C126328|DOID:0110827|ORPHA:231178|UMLS:C1568249 http://purl.obolibrary.org/obo/MONDO_0016484 USH2 ordo_clinical_subtype|clingen NCBITaxon:1979161 Human rubulavirus 4 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1979161 Human parainfluenza virus type 4|HPIV type 4|Human parainfluenza virus 4|Parainfluenza virus type 4|HPIV4 NCBITaxon:1979160 Human rubulavirus 2 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1979160 Human parainfluenza virus type 2|PIV-2|Human parainfluenza virus 2|Human parainfluenza 2 virus|Parainfluenza virus type 2|HPIV2|HPIV-2 MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion biolink:Disease mondo UMLS:CN201473|Orphanet:231130|ICD10:Q87.3 ORPHA:231130|UMLS:CN201473 http://purl.obolibrary.org/obo/MONDO_0016478 ordo_etiological_subtype NCBITaxon:1979165 Mumps rubulavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1979165 Mumps virus MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication biolink:Disease mondo Orphanet:231137|ICD10:Q87.1|UMLS:CN201474 ORPHA:231137|UMLS:CN201474 http://purl.obolibrary.org/obo/MONDO_0016479 Silver-Russell syndrome due to trisomy 7p11.2-p13|Silver-Russell syndrome due to dup(7)(p11.2p13)|Silver-Russell syndrome due to 7p11.2-p13 microduplication|Silver-Russell syndrome due to trisomy 7p11.2p13 ordo_etiological_subtype MONDO:0041403 toxic amblyopia biolink:Disease mondo SCTID:30483005 A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors. SNOMEDCT:30483005 http://purl.obolibrary.org/obo/MONDO_0041403 nutritional optic neuropathy|tobacco amblyopia MONDO:0016474 drug-induced lupus erythematosus biolink:Disease mondo DOID:0040093|NCIT:C114354|MedDRA:10013706|SCTID:80258006|Orphanet:231111|ICD10:M32.0|UMLS:C0263591 An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs. NCIT:C114354|UMLS:C0263591|SNOMEDCT:80258006|DOID:0040093|MEDDRA:10013706|ORPHA:231111 http://purl.obolibrary.org/obo/MONDO_0016474 DIL|drug-induced lupus|DILE|drug induced lupus|drug induced lupus erythematosus ordo_disease MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 biolink:Disease mondo Orphanet:231117|ICD10:Q87.3|UMLS:CN201470 ORPHA:231117|UMLS:CN201470 http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15 ordo_etiological_subtype MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation biolink:Disease mondo Orphanet:231120|UMLS:CN201471|ICD10:Q87.3 ORPHA:231120|UMLS:CN201471 http://purl.obolibrary.org/obo/MONDO_0016476 ordo_etiological_subtype MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion biolink:Disease mondo ICD10:Q87.3|Orphanet:231127|UMLS:CN201472 ORPHA:231127|UMLS:CN201472 http://purl.obolibrary.org/obo/MONDO_0016477 ordo_etiological_subtype MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome biolink:Disease mondo MESH:C565178|UMLS:CN201460|Orphanet:230857|ICD10:Q79.6 Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. UMLS:CN201460|MESH:C565178|ORPHA:230857 http://purl.obolibrary.org/obo/MONDO_0016470 EDS/OI syndrome ordo_disease MONDO:0016471 pachyonychia congenita biolink:Disease mondo GARD:0010753|OMIMPS:167200|UMLS:C0265334|ICD10:Q84.5|MESH:D053549|Orphanet:2309|NCIT:C84986|DOID:0050449 Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. UMLS:C0265334|DOID:0050449|MESH:D053549|NCIT:C84986|ORPHA:2309 http://purl.obolibrary.org/obo/MONDO_0016471 pachyonychia congenita, Jadassohn-Lewandowsky type|pachyonychia congenita type 1|Jackson-Lawler type pachyonychia congenita|pachyonychia congenita syndrome|PC|congenital pachyonychia|Jadassohn-Lewandowsky syndrome gard_rare|ordo_disease MONDO:0016472 dracunculiasis biolink:Disease mondo UMLS:C0013100|SCTID:396334002|NCIT:C84677|MedDRA:10013618|MESH:D004320|DOID:14418|ICD10:B72|Orphanet:231|GARD:0006286|EFO:0007241|ICD9:125.7 Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas). UMLS:C0013100|SNOMEDCT:396334002|ORPHA:231|DOID:14418|MESH:D004320|NCIT:C84677|MEDDRA:10013618 http://purl.obolibrary.org/obo/MONDO_0016472 dracontiasis|Dracunculus medinensis infectious disease|Dracunculus medinensis caused disease or disorder|parasitic infection caused by Dracunculus medinensis|Dracunculus medinensis disease or disorder|infection by Dracunculus medinensis|medinensis|Guinea worm infection|GWD|Guinea worm disease|Dracunculosis|Medina worm disease ordo_disease|gard_rare MONDO:0016473 familial rhabdoid tumor biolink:Disease mondo UMLS:CN201468|ICD10:C49.9|NCIT:C93268|Orphanet:231108|OMIMPS:609322|UMLS:C2985524 A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma. UMLS:CN201468|NCIT:C93268|UMLS:C2985524|ORPHA:231108 http://purl.obolibrary.org/obo/MONDO_0016473 hereditary rhabdoid tumor|RTPS|rhabdoid predisposition syndrome|rhabdoid tumor predisposition syndrome|familial posterior fossa brain tumor syndrome of infancy ordo_clinical_subtype CHEBI:24400 glycoside biolink:ChemicalSubstance mondo A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO-, RS-, RSe-, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms N-glycosides and C-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and C-glycosyl compounds, respectively. http://purl.obolibrary.org/obo/CHEBI_24400 glycosides|O-glycosides|O-glycoside|glycosides GO:1901606 alpha-amino acid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. http://purl.obolibrary.org/obo/GO_1901606 alpha-amino acid degradation|alpha-amino acid catabolism|alpha-amino acid breakdown GO:1901607 alpha-amino acid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of an alpha-amino acid. http://purl.obolibrary.org/obo/GO_1901607 alpha-amino acid biosynthesis|alpha-amino acid anabolism|alpha-amino acid synthesis|alpha-amino acid formation GO:1901605 alpha-amino acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving an alpha-amino acid. http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolism CHEBI:24402 glycosphingolipid biolink:ChemicalSubstance mondo A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. http://purl.obolibrary.org/obo/CHEBI_24402 glycosphingolipids GO:0045117 azole transmembrane transport biolink:OntologyClass mondo The directed movement of azoles, heterocyclic compounds found in many biologically important substances, across a lipid bilayer, across a membrane. http://purl.obolibrary.org/obo/GO_0045117 azole transport UBERON:0001271 pelvic girdle region biolink:AnatomicalEntity mondo The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. http://purl.obolibrary.org/obo/UBERON_0001271 pelvic girdle|girdle - pelvic UBERON:0001270 bony pelvis biolink:AnatomicalEntity mondo A ring of bone formed by the sacrum and the first few coccygeal vertebrae as the roof, the pubis and ischia as the floor and the ilia and the acetabular part of the ischia as the walls. http://purl.obolibrary.org/obo/UBERON_0001270 skeletal system of pelvis|pelvis ossea UBERON:0001273 ilium biolink:AnatomicalEntity mondo Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]. http://purl.obolibrary.org/obo/UBERON_0001273 os ilii|iliac bone|ilium bone|os iliacum|illium|os ilium UBERON:0001272 innominate bone biolink:AnatomicalEntity mondo A fused bone consisting of the ilium, ischium and and pubis. Together with the sacrum and coccyx, it comprises the pelvis. [WP,modified]. http://purl.obolibrary.org/obo/UBERON_0001272 innominate bone|coxal bone|bone of pelvic girdle|pelvic bone|innominate|basipterygium|os innominatum|hip bone|os coxae|os coxa UBERON:0001279 portal triad biolink:AnatomicalEntity mondo A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel http://purl.obolibrary.org/obo/UBERON_0001279 trias hepatica|trias hepatica UBERON:0001278 epithelium of large intestine biolink:AnatomicalEntity mondo An epithelium that is part of a large intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001278 epithelial tissue of large intestine|large intestine epithelial tissue|large intestinal epithelium|large intestine epithelium GO:0060759 regulation of response to cytokine stimulus biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of a response to cytokine stimulus. http://purl.obolibrary.org/obo/GO_0060759 NCBITaxon:33259 Toxocaridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33259 NCBITaxon:33256 Ascaridoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33256 UBERON:0001275 pubis biolink:AnatomicalEntity mondo A paired endochondral bone making up the anteroventral region of the tripartite pelvic girdle forming part of the ventral edge of the acetabulum. The origin site of many proximal hindlimb muscles. [PHENOSCAPE:ad]. http://purl.obolibrary.org/obo/UBERON_0001275 pubis bone|pubic bone|os pubis UBERON:0001274 ischium biolink:AnatomicalEntity mondo Endochondral bone that is paired, forming the posterior part of the pelvis, articulating with the pubis and ilium. http://purl.obolibrary.org/obo/UBERON_0001274 ischial bone|os ischii|ischium bone UBERON:0001277 intestinal epithelium biolink:AnatomicalEntity mondo Epithelial layer that lines the intestine. http://purl.obolibrary.org/obo/UBERON_0001277 epithelium of bowel|epithelial tissue of bowel|bowel epithelial tissue|intestine epithelium|epithelium of intestine|bowel epithelium|epithelial tissue of intestine|intestine epithelial tissue|villous epithelium UBERON:0001276 epithelium of stomach biolink:AnatomicalEntity mondo The epithelial layer of the stomach . http://purl.obolibrary.org/obo/UBERON_0001276 gastric epithelium|stomach epithelial tissue|stomach epithelium|ventriculus epithelium|epithelium of ventriculus|epithelial tissue of ventriculus|ventriculus epithelial tissue|epithelial tissue of stomach MONDO:0004405 Barrett adenocarcinoma biolink:Disease mondo NCIT:C7027|DOID:7941|EFO:1001939|UMLS:C1332460|SCTID:721617001 An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002 DOID:7941|UMLS:C1332460|NCIT:C7027|SNOMEDCT:721617001 http://purl.obolibrary.org/obo/MONDO_0004405 Barrett adenocarcinoma|Barrett's adenocarcinoma|adenocarcinoma arising in Barrett's mucosa MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia biolink:Disease mondo DOID:7936|UMLS:C0854859|NCIT:C8696 T-lymphoblastic leukemia/lymphoma resistant to treatment DOID:7936|NCIT:C8696|UMLS:C0854859 http://purl.obolibrary.org/obo/MONDO_0004404 refractory precursor T-lymphoblastic lymphoma/leukemia|refractory T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic lymphoma/leukemia refractory MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma biolink:Disease mondo DOID:7949|UMLS:C1516761|NCIT:C42060 A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume. UMLS:C1516761|DOID:7949|NCIT:C42060 http://purl.obolibrary.org/obo/MONDO_0004407 composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor UBERON:0013240 future glans clitoris biolink:AnatomicalEntity mondo A future glans that is part of a female genital tubercle. http://purl.obolibrary.org/obo/UBERON_0013240 glans of female genital tubercle GO:1901617 organic hydroxy compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of organic hydroxy compound. http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound anabolism|organic hydroxy compound synthesis|organic hydroxy compound formation|organic hydroxy compound biosynthesis MONDO:0004406 adult central nervous system mixed germ cell tumor biolink:Disease mondo NCIT:C27402|DOID:7945|UMLS:C1332195 A mixed germ cell tumor of central nervous system that occurs in an adult. UMLS:C1332195|DOID:7945|NCIT:C27402 http://purl.obolibrary.org/obo/MONDO_0004406 Central nervous system Mixed germ cell tumor|mixed germ cell tumor of central nervous system of adults|adult mixed germ cell tumor of central nervous system|adult central nervous system mixed germ cell tumor UBERON:0013241 embryonic urethral groove biolink:AnatomicalEntity mondo The precursor of the urethra http://purl.obolibrary.org/obo/UBERON_0013241 urethral groove|urethral sulcus|sulcus urethralis primarius MONDO:0004401 testis refractory cancer biolink:Disease mondo UMLS:C1377904|DOID:7928|NCIT:C9077 Malignant testicular germ cell tumor that is resistant to treatment. NCIT:C9077|UMLS:C1377904|DOID:7928 http://purl.obolibrary.org/obo/MONDO_0004401 refractory cancer of the testis|refractory testicular cancer|refractory malignant testicular germ cell tumor|refractory testicular carcinoma|refractory cancer of testis GO:1901615 organic hydroxy compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving organic hydroxy compound. http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolism MONDO:0004400 malignant type A thymoma biolink:Disease mondo NCIT:C7999|UMLS:C0279707|ICDO:8581/3|DOID:7927 A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. UMLS:C0279707|NCIT:C7999|DOID:7927 http://purl.obolibrary.org/obo/MONDO_0004400 thymoma, medullary, malignant|malignant type A thymoma GO:1901616 organic hydroxy compound catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of organic hydroxy compound. http://purl.obolibrary.org/obo/GO_1901616 organic hydroxy compound degradation|organic hydroxy compound catabolism|organic hydroxy compound breakdown MONDO:0004403 childhood precursor T-lymphoblastic lymphoma/leukemia biolink:Disease mondo UMLS:C1332997|DOID:7933|NCIT:C5640 A T lymphoblastic leukemia/lymphoma that occurs during childhood. DOID:7933|UMLS:C1332997|NCIT:C5640 http://purl.obolibrary.org/obo/MONDO_0004403 childhood precursor T-lymphoblastic lymphoma/leukemia|precursor T-lymphoblastic lymphoma/leukemia of childhood|childhood T lymphoblastic leukemia/lymphoma|pediatric precursor T-lymphoblastic lymphoma/leukemia|pediatric precursor T-lymphoblastic lymphoma/leukemia MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern biolink:Disease mondo NCIT:C39926|DOID:7930|UMLS:C1515305 A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures. DOID:7930|NCIT:C39926|UMLS:C1515305 http://purl.obolibrary.org/obo/MONDO_0004402 glandular-alveolar pattern testicular yolk sac tumor|testicular yolk sac tumor, glandular-alveolar pattern UBERON:0013247 male paramesonephric duct biolink:AnatomicalEntity mondo A epithelial tube that develops from a Mullerian duct in a male. Later degenerates. http://purl.obolibrary.org/obo/UBERON_0013247 degenerating mesonephric portion of male paramesonephric duct GO:0045124 regulation of bone resorption biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of bone tissue loss (resorption). http://purl.obolibrary.org/obo/GO_0045124 GO:0045121 membrane raft biolink:OntologyClass mondo Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. http://purl.obolibrary.org/obo/GO_0045121 GEM domain|glycolipid-enriched membrane domain|lipid raft UBERON:0037237 wall of lacrimal duct biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0037237 lacrimal ductal wall UBERON:0001260 serosa of urinary bladder biolink:AnatomicalEntity mondo A serous membrane that is part of a urinary bladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001260 urinary bladder serous membrane|serous coat of urinary bladder|serosa of bladder|tunica serosa (vesica urinaria)|serous membrane of urinary bladder|bladder serous membrane|bladder serosa|serous coat of bladder|visceral peritoneum of urinary bladder|serous membrane of bladder|tunica serosa vesicae|urinary bladder serosa UBERON:0001262 wall of intestine biolink:AnatomicalEntity mondo An anatomical wall that is part of a intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001262 anatomical wall of bowel|intestine wall|intestine anatomical wall|wall of bowel|anatomical wall of intestine|bowel wall|bowel anatomical wall|bowel wall|intestinal wall UBERON:0001261 lamina propria of urinary bladder biolink:AnatomicalEntity mondo A lamina propria that is part of a urinary bladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001261 urinary bladder lamina propria|urinary bladder lamina propria mucosa|lamina propria of bladder|lamina propria mucosae of bladder|bladder lamina propria mucosa|lamina propria mucosa of urinary bladder|bladder lamina propria mucosae|bladder lamina propria|lamina propria mucosa of bladder|urinary bladder lamina propria mucosae|lamina propria mucosae of urinary bladder UBERON:0013239 future glans penis biolink:AnatomicalEntity mondo A future glans that is part of a male genital tubercle. http://purl.obolibrary.org/obo/UBERON_0013239 glans of male genital tubercle UBERON:0001268 peritoneal fluid biolink:AnatomicalEntity mondo Transudate contained in the peritoneal cavity. http://purl.obolibrary.org/obo/UBERON_0001268 UBERON:0001267 femoral nerve biolink:AnatomicalEntity mondo The femoral nerve, the largest branch of the lumbar plexus, arises from the ventral divisions of the second, third, and fourth lumbar nerves. It descends through the fibers of the Psoas major, emerging from the muscle at the lower part of its lateral border, and passes down between it and the Iliacus, behind the iliac fascia; it then runs beneath the inguinal ligament, into the thigh, and splits into an anterior and a posterior division. Under the inguinal ligament, it is separated from the femoral artery by a portion of the Psoas major. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001267 nervus femoralis|anterior crural nerve HGNC:16501 PDLIM4 biolink:OntologyClass mondo http://identifiers.org/hgnc/16501 UBERON:0001264 pancreas biolink:AnatomicalEntity mondo An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. http://purl.obolibrary.org/obo/UBERON_0001264 UBERON:0001263 pancreatic acinus biolink:AnatomicalEntity mondo The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0001263 acinus pancreaticus|pancreatic acinar|pancreas acinus|pancreatic acini UBERON:0001265 trabecula of spleen biolink:AnatomicalEntity mondo A trabecula that is part of a spleen. http://purl.obolibrary.org/obo/UBERON_0001265 splenic trabecula|spleen trabeculum NCBITaxon:45219 Guanarito mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_45219 GTOV|Guanarito virus|Guanarito arenavirus UBERON:0013235 ventrum biolink:AnatomicalEntity mondo A major organism subdivisionthat is the entire part of an anatomical structure ventral to a horizontal plane and bounded on one side by the same horizontal plane. http://purl.obolibrary.org/obo/UBERON_0013235 ventral region of organism|ventral part of organism|ventral region|front|front of body proper UBERON:0013238 future glans biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0013238 UBERON:0013231 sebaceous gland of eyelid biolink:AnatomicalEntity mondo Any of the sebaceous glands that are in the eyelid. Examples: gland of Zeis (services eyelashes), gland of Meibom (tarsal gland - unconnected to eyelids). http://purl.obolibrary.org/obo/UBERON_0013231 UBERON:0013232 serous acinus biolink:AnatomicalEntity mondo The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. http://purl.obolibrary.org/obo/UBERON_0013232 acinus of serous gland GO:0045132 meiotic chromosome segregation biolink:OntologyClass mondo The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0045132 FOODON:03420110 peel, core or seed biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03420110 UBERON:0001251 marginal zone of spleen biolink:AnatomicalEntity mondo the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens http://purl.obolibrary.org/obo/UBERON_0001251 spleen marginal zone|marginal zone|junctional zone of spleen UBERON:0001250 red pulp of spleen biolink:AnatomicalEntity mondo the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation http://purl.obolibrary.org/obo/UBERON_0001250 pulpa splenica|spleen red pulp|red pulp|pulpa rubra|splenic red pulp UBERON:0013228 sweat gland of eyelid biolink:AnatomicalEntity mondo Glands of Moll, also known as ciliary glands, are modified apocrine sweat glands that are found on the margin of the eyelid. They are next to the base of the eyelashes, and anterior to the Meibomian glands within the distal eyelid margin. These glands are relatively large and tubular-shaped. The glands of Moll are named after Dutch oculist Jacob Anton Moll (1832-1914). Glands of Moll empty into the adjacent lashes. Glands of Moll and Zeis secrete lipid that adds to the superficial layer of the tear film, retarding evaporation. The glands of Moll are prone to infection and blockage of its duct with sebum and cell debris. Blockage of the gland's duct causes swelling which can manifest itself as a stye. http://purl.obolibrary.org/obo/UBERON_0013228 ciliary sweat gland of eyelid|ciliary gland|ciliary gland of moll|Moll's gland|gland of Moll UBERON:0013229 eyelid gland biolink:AnatomicalEntity mondo Any gland that is part of an eyelid. This includes sebaceous glands (Zeis gland, tarsal gland) and sweat glands (Moll's gland). http://purl.obolibrary.org/obo/UBERON_0013229 gland of eyelid FOODON:03420113 mammalian milk or milk component biolink:OntologyClass mondo A broad term that includes milk and its components, cream, curd and whey; use the appropriate specific term when milk or a milk product is the principal ingredient. Use the appropriate term under *MEAT ANIMAL* to index the source of the milk (note: 21 CFR 131.110 defines milk as cow's milk). http://purl.obolibrary.org/obo/FOODON_03420113 UBERON:0025261 thalamic fiber tract biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0025261 thalamic fiber tracts UBERON:0001257 trigone of urinary bladder biolink:AnatomicalEntity mondo the smooth triangular region of the wall of the urinary bladder formed by the two ureteral orifices and the internal urethral orifice; it is an area in which the muscle fibers are closely adherent to the mucosa http://purl.obolibrary.org/obo/UBERON_0001257 deep trigone|trigonum vesicae|urinary bladder trigone|vesical trigone|trigone of bladder|Lieutaud's trigone|dorsal bladder neck|bladder trigone|musculus trigoni vesicae profundus|trigonum vesicae urinariae UBERON:0001256 wall of urinary bladder biolink:AnatomicalEntity mondo An anatomical wall that lines the insider of a urinary bladder. http://purl.obolibrary.org/obo/UBERON_0001256 bladder wall|anatomical wall of bladder|urinary bladder anatomical wall|wall of bladder|urinary bladder wall|bladder anatomical wall|anatomical wall of urinary bladder UBERON:0001259 mucosa of urinary bladder biolink:AnatomicalEntity mondo the mucous membrane lining the urinary bladder http://purl.obolibrary.org/obo/UBERON_0001259 bladder mucous membrane|tunica mucosa vesicae urinariae|tunica mucosa (vesica urinaria)|mucous membrane of urinary bladder|bladder mucosa|bladder organ mucosa|urinary bladder mucous membrane|mucous membrane of bladder|tunica mucosa vesicae|mucosa of bladder|urinary bladder mucosa FOODON:03420116 part of organism biolink:OntologyClass mondo Anatomical part of the plant or animal from which a food product or its major ingredient is derived. http://purl.obolibrary.org/obo/FOODON_03420116 UBERON:0001258 neck of urinary bladder biolink:AnatomicalEntity mondo The constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra[MP]. http://purl.obolibrary.org/obo/UBERON_0001258 vesical neck|collum vesicae|urinary bladder neck|neck of bladder|cervix vesicae urinariae|bladder neck|cervix vesicae UBERON:0001253 lamina propria of ureter biolink:AnatomicalEntity mondo A lamina propria that is part of a ureter [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001253 ureter lamina propria|lamina propria mucosae of ureter|ureter lamina propria mucosa|lamina propria mucosa of ureter|ureter lamina propria mucosae UBERON:0001252 adventitia of ureter biolink:AnatomicalEntity mondo An adventitia that is part of a ureter. http://purl.obolibrary.org/obo/UBERON_0001252 tunica adventitia ureteris|external adventitia of ureter|ureter adventitia|tunica adventitia (ureter)|ureteral adventitia UBERON:0001255 urinary bladder biolink:AnatomicalEntity mondo distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. http://purl.obolibrary.org/obo/UBERON_0001255 urocyst|vesica|bladder|vesica urinaria UBERON:0001254 urothelium of ureter biolink:AnatomicalEntity mondo The luminal epithelium of the tube that conducts the urine from the renal pelvis to the bladder[MP] http://purl.obolibrary.org/obo/UBERON_0001254 ureter luminal urothelium|ureter transitional epithelium|ureter urothelium|transitional epithelium of ureter UBERON:0001238 lamina propria of small intestine biolink:AnatomicalEntity mondo Lamina propria that is part_of the small intestine. http://purl.obolibrary.org/obo/UBERON_0001238 lamina propria mucosae of small intestine|lamina propria mucosa of small bowel|small intestine lamina propria mucosa|small bowel lamina propria mucosae|lamina propria of small bowel|small bowel lamina propria|lamina propria of mucosa of small intestine|lamina propria mucosae of small bowel|lamina propria mucosa of small intestine|small bowel lamina propria mucosa|small intestine lamina propria mucosae|small intestine lamina propria GO:0045144 meiotic sister chromatid segregation biolink:OntologyClass mondo The cell cycle process in which sister chromatids are organized and then physically separated and randomly apportioned to two sets during the second division of the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0045144 meiosis II, chromosome segregation GO:0060760 positive regulation of response to cytokine stimulus biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of a response to cytokine stimulus. http://purl.obolibrary.org/obo/GO_0060760 GO:0060761 negative regulation of response to cytokine stimulus biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of a response to cytokine stimulus. http://purl.obolibrary.org/obo/GO_0060761 GO:0060764 cell-cell signaling involved in mammary gland development biolink:OntologyClass mondo Any process that mediates the transfer of information from one cell to another and contributes to the progression of the mammary gland, from its initial state to the mature structure. http://purl.obolibrary.org/obo/GO_0060764 cell-cell signalling involved in mammary gland development SO:0000209 rRNA_primary_transcript biolink:SequenceFeature mondo A primary transcript encoding a ribosomal RNA. http://purl.obolibrary.org/obo/SO_0000209 ribosomal RNA primary transcript|rRNA primary transcript GO:0060765 regulation of androgen receptor signaling pathway biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway. http://purl.obolibrary.org/obo/GO_0060765 regulation of androgen receptor signalling pathway GO:0060766 negative regulation of androgen receptor signaling pathway biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of the androgen receptor signaling pathway. http://purl.obolibrary.org/obo/GO_0060766 negative regulation of androgen receptor signalling pathway UBERON:0001246 interlobular bile duct biolink:AnatomicalEntity mondo The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. http://purl.obolibrary.org/obo/UBERON_0001246 interlobular ductule UBERON:0001245 anus biolink:AnatomicalEntity mondo Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. http://purl.obolibrary.org/obo/UBERON_0001245 proctodeum|anal orifice|anal opening|opening of terminal part of digestive tract UBERON:0001248 hilum of spleen biolink:AnatomicalEntity mondo The splenic hilum is a location on the surface of the spleen. It is the point of attachment for the gastrosplenic ligament, and the point of insertion for the splenic artery and splenic vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001248 hilum splenicum|hilum|hilum lienale|splenic hilum|spleen hilum|hilum splenicum UBERON:0001247 falciform ligament biolink:AnatomicalEntity mondo A ligament that attaches the liver to the anterior body wall. It is a broad and thin antero-posterior peritoneal fold, falciform in shape, its base being directed downward and backward and its apex upward and backward. It is a remnant of the ventral mesentery of the fetus. It is situated in an antero-posterior plane but lies obliquely, so that one surface faces forward and is in contact with the peritoneum behind the right rectus and the diaphragm, while the other is directed backward and is in contact with the left lobe of the liver. It is attached by its left margin to the under surface of the diaphragm and the posterior surface of the sheath of the right Rectus as low down as the umbilicus; by its right margin it extends from the notch on the anterior margin of the liver, as far back as the posterior surface. It is composed of two layers of peritoneum closely united together. Its base or free edge contains between its layers the round ligament and the paraumbilical veins[WP]. http://purl.obolibrary.org/obo/UBERON_0001247 falciform ligament of liver|ligamentum falciforme (hepatis)|ligamentum falciforme hepatis UBERON:0001242 intestinal mucosa biolink:AnatomicalEntity mondo Mucosal layer that lines the intestine. http://purl.obolibrary.org/obo/UBERON_0001242 mucosa of bowel|tunica mucosa intestini|bowel mucous membrane|mucosa of organ of bowel|bowel mucosa|bowel organ mucosa|mucous membrane of intestine|intestine mucosa of organ|organ mucosa of intestine|mucosa of intestine|mucosa of organ of intestine|intestine mucous membrane|intestine mucosa|intestine organ mucosa|mucous membrane of bowel|bowel mucosa of organ|organ mucosa of bowel UBERON:0001243 serosa of intestine biolink:AnatomicalEntity mondo A serous membrane that is part of a wall of intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001243 intestinal serosa|intestine anatomical wall serous membrane|visceral peritoneum of intestine|bowel anatomical wall serosa|anatomical wall of intestine serosa|intestine serosa|serous membrane of intestinal wall|wall of bowel serous membrane|bowel wall serosa|serosa of bowel anatomical wall|serous membrane of intestine anatomical wall|serous membrane of anatomical wall of bowel|serosa of wall of intestine|serous membrane of intestine wall|anatomical wall of intestine serous membrane|wall of bowel serosa|serosa of bowel wall|bowel wall serous membrane|serous membrane of wall of bowel|serosa of anatomical wall of intestine|bowel anatomical wall serous membrane|intestine anatomical wall serosa|serosa of intestinal wall|intestine wall serosa|anatomical wall of bowel serosa|wall of intestine serous membrane|serosa of intestine anatomical wall|intestinal wall serosa|intestinal wall serous membrane|serous membrane of bowel anatomical wall|serosa of wall of bowel|serous membrane of anatomical wall of intestine|serous membrane of bowel wall|intestine wall serous membrane|serous membrane of wall of intestine|serosa of anatomical wall of bowel|anatomical wall of bowel serous membrane|serosa of intestine wall|wall of intestine serosa MONDO:0004438 sporadic breast cancer biolink:Disease mondo DOID:8029|UMLS:C1336076|NCIT:C7566 A carcinoma that arises from the breast and is not caused by inherited genetic mutations. NCIT:C7566|UMLS:C1336076|DOID:8029 http://purl.obolibrary.org/obo/MONDO_0004438 sporadic breast cancer|sporadic breast carcinoma MONDO:0004437 obsolete gastric signet ring cell adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004437 MONDO:0004439 periocular meningioma biolink:Disease mondo UMLS:C1335383|NCIT:C6777|DOID:8030 A meningioma that affects the periocular region. NCIT:C6777|DOID:8030|UMLS:C1335383 http://purl.obolibrary.org/obo/MONDO_0004439 MONDO:0004434 obsolete glomangiomyoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004434 UBERON_CORE:channels_into channels_into biolink:OntologyClass mondo http://purl.obolibrary.org/obo/uberon/core#channels_into MONDO:0004433 papillary carcinoma of the penis biolink:Disease mondo DOID:8013|UMLS:C1335322|NCIT:C6983 A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern. NCIT:C6983|DOID:8013|UMLS:C1335322 http://purl.obolibrary.org/obo/MONDO_0004433 squamous carcinoma of the penis, papillary type|papillary squamous carcinoma of the penis|papillary squamous carcinoma of penis|papillary carcinoma of the penis|papillary penile squamous carcinoma|papillary carcinoma of penis|papillary penile carcinoma|penis papillary carcinoma|squamous carcinoma of penis, papillary type MONDO:0004436 ovarian myxoid liposarcoma biolink:Disease mondo NCIT:C5235|UMLS:C1335170|DOID:8023 A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma. NCIT:C5235|DOID:8023|UMLS:C1335170 http://purl.obolibrary.org/obo/MONDO_0004436 myxoid liposarcoma of the ovary|ovary myxoid liposarcoma|ovarian myxoid liposarcoma|myxoid liposarcoma of ovary SO:0000240 chromosome_variation biolink:SequenceFeature mondo A deviation in chromosome structure or number. http://purl.obolibrary.org/obo/SO_0000240 chromosome variation MONDO:0004435 liver fibrosarcoma biolink:Disease mondo UMLS:C1333966|DOID:8022|NCIT:C5832 A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. DOID:8022|NCIT:C5832|UMLS:C1333966 http://purl.obolibrary.org/obo/MONDO_0004435 hepatic fibrosarcoma|fibrosarcoma of the liver|fibrosarcoma of liver|liver fibrosarcoma (disease)|liver fibrosarcoma MONDO:0004430 penis mixed squamous cell carcinoma biolink:Disease mondo NCIT:C39959|UMLS:C1513369|DOID:8009 A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma). DOID:8009|NCIT:C39959|UMLS:C1513369 http://purl.obolibrary.org/obo/MONDO_0004430 mixed squamous cell carcinoma of the penis MONDO:0004432 mature pericardial teratoma biolink:Disease mondo UMLS:C1334638|DOID:8012|NCIT:C6744 A benign teratoma that arises from the pericardium. NCIT:C6744|DOID:8012|UMLS:C1334638 http://purl.obolibrary.org/obo/MONDO_0004432 benign pericardial teratoma|mature pericardial teratoma|mature teratoma of pericardium|pericardium mature teratoma|mature teratoma of the pericardium MONDO:0004431 hemarthrosis biolink:Disease mondo ICD9:719.18|COHD:76784|ICD9:719.10|SCTID:81808003|ICD9:719.1|UMLS:C0158159|EFO:1001344|DOID:801|MESH:D006395|ICD10:M25.0 Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia. MESH:D006395|SNOMEDCT:81808003|UMLS:C0158159|DOID:801 http://purl.obolibrary.org/obo/MONDO_0004431 hemarthrosis of shoulder region|hemarthrosis of upper arm|hemarthrosis involving ankle and foot|hemarthrosis involving forearm|haemarthrosis of the pelvic region and thigh|hemarthrosis involving upper arm|hemarthrosis of the pelvic region and thigh|hemarthrosis of shoulder|hemarthrosis involving lower leg|hemarthrosis of hand|hemarthrosis of the ankle and foot|haemarthrosis of the ankle and foot|hemarthrosis of the hand|hemarthrosis of the ankle and/or foot|hemarthrosis of ankle and/or foot|hemarthrosis involving shoulder region|hemarthrosis of the forearm|haemarthrosis of shoulder joint|hemarthrosis involving pelvic region and thigh|hemarthrosis of the lower leg|hemarthrosis of forearm|hemarthrosis of lower leg|hemarthrosis of the upper arm|hemarthrosis involving hand|hemarthrosis of the shoulder region MONDO:0016427 obsolete coccidioidomycosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016427 MONDO:0016428 multiple sclerosis variant biolink:Disease mondo Orphanet:228145 ORPHA:228145 http://purl.obolibrary.org/obo/MONDO_0016428 ordo_group_of_disorders MONDO:0016429 Marburg acute multiple sclerosis biolink:Disease mondo Orphanet:228157|SCTID:766246000 Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. SNOMEDCT:766246000|ORPHA:228157 http://purl.obolibrary.org/obo/MONDO_0016429 acute multiple sclerosis, Marburg type|acute multiple sclerosis, Marburg variant ordo_disease MONDO:0016423 autoimmune polyendocrinopathy type 4 biolink:Disease mondo SCTID:449730005|ICD9:258.1|UMLS:C3266026|Orphanet:227990|UMLS:CN201378|ICD10:E31.0 SNOMEDCT:449730005|UMLS:CN201378|ORPHA:227990|UMLS:C3266026 http://purl.obolibrary.org/obo/MONDO_0016423 APS4|autoimmune polyendocrine syndrome type 4|autoimmune polyglandular syndrome type 4|APS type 4 ordo_disease MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome biolink:Disease mondo UMLS:CN201381|Orphanet:228012 Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. ORPHA:228012|UMLS:CN201381 http://purl.obolibrary.org/obo/MONDO_0016424 progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome ordo_disease MONDO:0016425 Hughes-Stovin syndrome biolink:Disease mondo Orphanet:228116|UMLS:CN201382|ICD10:I28.8|SCTID:721226005 Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. ORPHA:228116|UMLS:CN201382|SNOMEDCT:721226005 http://purl.obolibrary.org/obo/MONDO_0016425 ordo_disease MONDO:0016426 fusariosis biolink:Disease mondo Orphanet:228119|DOID:0050289|MESH:D060585|SCTID:64250002|MedDRA:10051919|ICD10:B48.7|EFO:1001795 Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections. MEDDRA:10051919|SNOMEDCT:64250002|UMLS:C0276758|ORPHA:228119|MESH:D060585|DOID:0050289 http://purl.obolibrary.org/obo/MONDO_0016426 Fusarium infection|Fusarium infectious disease|Fusarium caused disease or disorder|Fusarium disease or disorder ordo_disease MONDO:0016420 familial flecked retinopathy biolink:Disease mondo Orphanet:227786|ICD10:H35.5|UMLS:CN226924 ORPHA:227786|UMLS:CN226924 http://purl.obolibrary.org/obo/MONDO_0016420 hereditary flecked retinopathy ordo_group_of_disorders MONDO:0016421 toxic oil syndrome biolink:Disease mondo Orphanet:227972|MedDRA:10051222|SCTID:239910001 Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates. UMLS:C0409998|ORPHA:227972|MEDDRA:10051222|SNOMEDCT:239910001 http://purl.obolibrary.org/obo/MONDO_0016421 ordo_disease NCBITaxon:59848 Chrysopsini organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_59848 MONDO:0016422 autoimmune polyendocrinopathy type 3 biolink:Disease mondo SCTID:449731009|ICD10:E31.0|Orphanet:227982|ICD9:258.1|UMLS:C3266027|UMLS:C1535942|GARD:0010980 Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. SNOMEDCT:449731009|UMLS:C1535942|ORPHA:227982|UMLS:C3266027 http://purl.obolibrary.org/obo/MONDO_0016422 APS type 3|PAS3|polyglandular autoimmune syndrome type 3|APS3|autoimmune polyendocrine syndrome type 3|autoimmune polyglandular syndrome type 3 ordo_disease MONDO:0004449 intraductal breast myoepitheliosis biolink:Disease mondo DOID:8068|NCIT:C40387|UMLS:C1512935 A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts. UMLS:C1512935|DOID:8068|NCIT:C40387 http://purl.obolibrary.org/obo/MONDO_0004449 MONDO:0004448 frontal sinus inverted papilloma biolink:Disease mondo UMLS:C1333644|NCIT:C6842|DOID:8060 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. NCIT:C6842|DOID:8060|UMLS:C1333644 http://purl.obolibrary.org/obo/MONDO_0004448 inverted papilloma of frontal sinus|inverted papilloma of the frontal sinus|frontal sinus inverted papilloma SO:0000233 mature_transcript biolink:SequenceFeature mondo A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified. http://purl.obolibrary.org/obo/SO_0000233 mature transcript MONDO:0004445 bladder papillary clear cell adenocarcinoma biolink:Disease mondo NCIT:C39848|DOID:8051|UMLS:C1511196 A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern. NCIT:C39848|DOID:8051|UMLS:C1511196 http://purl.obolibrary.org/obo/MONDO_0004445 bladder papillary clear cell adenocarcinoma MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma biolink:Disease mondo NCIT:C39847|UMLS:C1511203|DOID:8050 A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern. DOID:8050|NCIT:C39847|UMLS:C1511203 http://purl.obolibrary.org/obo/MONDO_0004444 bladder tubulo-cystic clear cell adenocarcinoma MONDO:0004447 pituitary stalk meningioma biolink:Disease mondo DOID:8058|UMLS:C1335422|NCIT:C5311 A meningioma that affects the pituitary stalk. NCIT:C5311|DOID:8058|UMLS:C1335422 http://purl.obolibrary.org/obo/MONDO_0004447 meningioma of pituitary stalk|pituitary stalk meningioma (disease)|meningioma of the pituitary stalk|meningioma (disease) of pituitary stalk UBERON:0013280 diaphysis of tibia biolink:AnatomicalEntity mondo A diaphysis that is part of a tibia. http://purl.obolibrary.org/obo/UBERON_0013280 body of tibia|corpus tibiae|body of the tibia|shaft of tibia|tibial diaphysis|shaft of tibia MONDO:0004446 olfactory groove meningioma biolink:Disease mondo NCIT:C6771|UMLS:C1335107|DOID:8057 A meningioma that affects the olfactory sulcus. NCIT:C6771|DOID:8057|UMLS:C1335107 http://purl.obolibrary.org/obo/MONDO_0004446 meningioma of olfactory groove|olfactory sulcus meningioma (disease)|meningioma of the olfactory groove|meningioma (disease) of olfactory sulcus MONDO:0004441 childhood ovarian embryonal carcinoma biolink:Disease mondo UMLS:C1332989|DOID:8036|NCIT:C6546 An embryonal carcinoma that arises from the ovary and occurs in children. NCIT:C6546|DOID:8036|UMLS:C1332989 http://purl.obolibrary.org/obo/MONDO_0004441 pediatric embryonal carcinoma of the ovary|pediatric ovarian embryonal carcinoma|ovarian embryonal carcinoma of childhood|pediatric ovarian embryonal carcinoma|childhood embryonal carcinoma of the ovary|pediatric embryonal carcinoma of ovary|childhood embryonal carcinoma of ovary MONDO:0004440 pineal region meningioma biolink:Disease mondo UMLS:C1335418|DOID:8031|NCIT:C6756 A meningioma that affects the pineal gland. NCIT:C6756|DOID:8031|UMLS:C1335418 http://purl.obolibrary.org/obo/MONDO_0004440 meningioma of pineal area|pineal body meningioma (disease)|pineal meningioma|meningioma of pineal gland|meningioma (disease) of pineal body|meningioma of the pineal gland|meningioma of the pineal region|meningioma of pineal region|pineal gland meningioma|meningioma of the pineal area|pineal area meningioma GO:1901653 cellular response to peptide biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/GO_1901653 MONDO:0004443 chest wall parachordoma biolink:Disease mondo DOID:8043|UMLS:C1332934|NCIT:C6720 A parachordoma arising from the chest wall. NCIT:C6720|DOID:8043|UMLS:C1332934 http://purl.obolibrary.org/obo/MONDO_0004443 parachordoma of the chest wall|parachordoma of chest wall|chest wall parachordoma MONDO:0004442 testis polyembryoma biolink:Disease mondo UMLS:C1514200|DOID:8042|NCIT:C40962 A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies. DOID:8042|UMLS:C1514200|NCIT:C40962 http://purl.obolibrary.org/obo/MONDO_0004442 polyembryoma of testis|polyembryoma of the testis|testicular polyembryoma MONDO:0016409 primary congenital hypothyroidism biolink:Disease mondo ICD10:E03.1|ICD10:E03.0|Orphanet:226295 Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. ORPHA:226295 http://purl.obolibrary.org/obo/MONDO_0016409 ordo_group_of_disorders GO:0045168 cell-cell signaling involved in cell fate commitment biolink:OntologyClass mondo Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. http://purl.obolibrary.org/obo/GO_0045168 cell-cell signaling resulting in cell fate commitment|cell-cell signalling involved in cell fate specification|cell-cell signaling during in cell fate commitment|cell fate commitment, cell-cell signalling|cell-cell signalling resulting in cell fate commitment|cell-cell signalling during cell fate commitment|cell fate commitment, cell-cell signaling GO:1901652 response to peptide biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/GO_1901652 GO:0045165 cell fate commitment biolink:OntologyClass mondo The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/GO_0045165 MONDO:0016416 diphallia biolink:Disease mondo Orphanet:227|GARD:0001872|SCTID:253851000|ICD9:752.69|ICD10:Q55.6 ORPHA:227|SNOMEDCT:253851000 http://purl.obolibrary.org/obo/MONDO_0016416 Diphallus ordo_morphological_anomaly|gard_rare MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome biolink:Disease mondo Orphanet:2271|ICD10:Q87.8 ORPHA:2271 http://purl.obolibrary.org/obo/MONDO_0016417 congenital ichthyosis-microcephalus-quadriplegia syndrome ordo_disease MONDO:0016418 multiple system atrophy, cerebellar type biolink:Disease mondo ICD10:G90.3|Orphanet:227510|UMLS:CN201371 Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria). ORPHA:227510|UMLS:CN201371 http://purl.obolibrary.org/obo/MONDO_0016418 sporadic olivopontocerebellar atrophy type 1|sporadic OPCA type 1|MSA, cerebellar type|MSA-c ordo_clinical_subtype GO:0060784 regulation of cell proliferation involved in tissue homeostasis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue. http://purl.obolibrary.org/obo/GO_0060784 NCBITaxon:226665 Rickettsia heilongjiangensis organism taxon mondo PMID:10970415|PMID:14662925|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_226665 Rickettsia heilongjiangii MONDO:0016419 hereditary breast carcinoma biolink:Disease mondo SCTID:254843006|Orphanet:227535|ICD10:C50.8|ICD10:C50.6|ICD10:C50.5|OMIM:114480|ICD10:C50.4|ICD10:C50.3|NCIT:C4503|ICD10:C50.2|ICD10:C50.1|UMLS:C0346153|ICD10:C50.0|MESH:C562840 Breast carcinoma that has developed in relatives of patients with history of breast carcinoma. SNOMEDCT:254843006|MESH:C562840|NCIT:C4503|UMLS:C0346153|http://identifiers.org/omim/114480|ORPHA:227535 http://purl.obolibrary.org/obo/MONDO_0016419 familial breast carcinoma|familial breast cancer|hereditary breast cancer|familial cancer of breast|familial cancer of the breast|breast cancer, familial Male|hereditary breast carcinoma|breast cancer, familial ordo_disease|clingen GO:0060785 regulation of apoptosis involved in tissue homeostasis biolink:OntologyClass mondo Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue. http://purl.obolibrary.org/obo/GO_0060785 MONDO:0016412 peripheral hypothyroidism biolink:Disease mondo Orphanet:226310 Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism. ORPHA:226310 http://purl.obolibrary.org/obo/MONDO_0016412 ordo_group_of_disorders GO:0060786 regulation of cell differentiation involved in tissue homeostasis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell differentiation that contributes to the maintenance of a steady state of a cell type within a tissue. http://purl.obolibrary.org/obo/GO_0060786 MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs biolink:Disease mondo Orphanet:226313|ICD10:P72.2 ORPHA:226313 http://purl.obolibrary.org/obo/MONDO_0016413 ordo_disease MONDO:0016414 hypotrichosis-intellectual disability, Lopes type biolink:Disease mondo Orphanet:2266|UMLS:CN201347 Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. ORPHA:2266|UMLS:CN201347 http://purl.obolibrary.org/obo/MONDO_0016414 Lopes-Marques de Faria syndrome ordo_disease MONDO:0016415 obsolete immunodeficiency-centromeric instability-facial anomalies syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016415 MONDO:0016410 central congenital hypothyroidism biolink:Disease mondo Orphanet:226298|GARD:0012280|ICD10:E03.1|NCIT:C113144 Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system. NCIT:C113144|ORPHA:226298 http://purl.obolibrary.org/obo/MONDO_0016410 thyrotropin deficiency|central hypothyroidism|TSH deficiency|hypothalamic-pituitary hypothyroidism|secondary hypothyroidism|thyroid stimulating hormone deficiency gard_rare|ordo_group_of_disorders MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function biolink:Disease mondo ICD10:E03.1|UMLS:CN201345|Orphanet:226307 Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. UMLS:CN201345|ORPHA:226307 http://purl.obolibrary.org/obo/MONDO_0016411 ordo_disease UBERON:4200230 surface of bone biolink:AnatomicalEntity mondo An anatomical surface that is part of a bone http://purl.obolibrary.org/obo/UBERON_4200230 bone surface MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma biolink:Disease mondo DOID:7968|ONCOTREE:SRCBC|NCIT:C39823|UMLS:C1512742 DOID:7968|UMLS:C1512742|NCIT:C39823 http://purl.obolibrary.org/obo/MONDO_0004416 plasmacytoid/signet ring cell bladder carcinoma|infiltrating bladder urothelial carcinoma, plasmacytoid variant GO:0070130 negative regulation of mitochondrial translation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. http://purl.obolibrary.org/obo/GO_0070130 negative regulation of mitochondrial protein biosynthesis|negative regulation of mitochondrial protein anabolism|negative regulation of mitochondrial protein synthesis|negative regulation of mitochondrial protein formation GO:0070131 positive regulation of mitochondrial translation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. http://purl.obolibrary.org/obo/GO_0070131 positive regulation of mitochondrial protein anabolism|positive regulation of mitochondrial protein synthesis|positive regulation of mitochondrial protein biosynthesis|positive regulation of mitochondrial protein formation MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma biolink:Disease mondo DOID:7967|NCIT:C39828|UMLS:C1512738 UMLS:C1512738|NCIT:C39828|DOID:7967 http://purl.obolibrary.org/obo/MONDO_0004415 infiltrating bladder urothelial carcinoma, Lipid-cell variant MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma biolink:Disease mondo UMLS:C1512740|NCIT:C39820|DOID:7971 DOID:7971|UMLS:C1512740|NCIT:C39820 http://purl.obolibrary.org/obo/MONDO_0004418 infiltrating bladder urothelial carcinoma, microcystic variant MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma biolink:Disease mondo DOID:7969|UMLS:C1512741|NCIT:C39819 DOID:7969|UMLS:C1512741|NCIT:C39819 http://purl.obolibrary.org/obo/MONDO_0004417 infiltrating bladder urothelial carcinoma, nested variant MONDO:0004412 malignant spiradenoma biolink:Disease mondo GARD:0010466|ICDO:8403/3|DOID:7960|UMLS:C1266063|NCIT:C5117|SCTID:403942003 A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs. NCIT:C5117|SNOMEDCT:403942003|DOID:7960|UMLS:C1266063 http://purl.obolibrary.org/obo/MONDO_0004412 Spiradenocarcinoma|malignant eccrine spiradenoma (morphologic abnormality)|malignant spiradenoma|spiradenoma, malignant|malignant eccrine spiradenoma MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor biolink:Disease mondo NCIT:C5731|UMLS:C1333321|DOID:7959|EFO:1000224 A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm. NCIT:C5731|UMLS:C1333321|DOID:7959 http://purl.obolibrary.org/obo/MONDO_0004411 gastrin producing tumor of duodenum|gastrin producing tumor of the duodenum|gastrinoma of the duodenum|duodenal gastrin-producing NET|duodenal gastrinoma|gastrin-producing neuroendocrine tumor of duodenum|gastrinoma of duodenum|duodenal gastrin-producing neuroendocrine tumor|malignant duodenal gastrinoma|duodenal G-cell gastrin producing tumor|duodenum gastrin-producing neuroendocrine tumor MONDO:0004414 tamoxifen-related endometrial lesion biolink:Disease mondo UMLS:C1515212|DOID:7962|NCIT:C40159 A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma. NCIT:C40159|UMLS:C1515212|DOID:7962 http://purl.obolibrary.org/obo/MONDO_0004414 tamoxifen-related endometrial disorder MONDO:0004413 cervical non-keratinizing squamous cell carcinoma biolink:Disease mondo DOID:7961|NCIT:C40188|UMLS:C1518366 A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent. UMLS:C1518366|NCIT:C40188|DOID:7961 http://purl.obolibrary.org/obo/MONDO_0004413 UBERON:0013279 diaphysis of fibula biolink:AnatomicalEntity mondo A diaphysis that is part of a fibula[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0013279 shaft of fibula|body of fibula|fibula diaphysis|corpus fibulae MONDO:0004410 sarcomatoid penile squamous cell carcinoma biolink:Disease mondo UMLS:C1335923|NCIT:C6984|DOID:7958 A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells. NCIT:C6984|UMLS:C1335923|DOID:7958 http://purl.obolibrary.org/obo/MONDO_0004410 sarcomatoid penile squamous cell carcinoma|spindle cell carcinoma of the penis|sarcomatoid carcinoma of the penis|sarcomatous carcinoma of the penis|sarcomatoid penile carcinoma|squamous cell carcinoma of the penis, sarcomatoid type|squamous cell carcinoma of penis, sarcomatoid type GO:1901663 quinone biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of quinone. http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthesis|quinone formation|quinone cofactor synthesis|quinone cofactor formation|quinone cofactor biosynthesis|quinone cofactor biosynthetic process|quinone anabolism|quinone synthesis|quinone cofactor anabolism NCBITaxon:45258 Rickettsia conorii subsp. israelensis organism taxon mondo GC_ID:11|PMID:15766388 http://purl.obolibrary.org/obo/NCBITaxon_45258 Israeli tick typhus rickettsia GO:1901661 quinone metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving quinone. http://purl.obolibrary.org/obo/GO_1901661 quinone cofactor metabolic process|quinone metabolism|quinone cofactor metabolism UBERON:0001293 outer medulla of kidney biolink:AnatomicalEntity mondo The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. http://purl.obolibrary.org/obo/UBERON_0001293 kidney outer medulla|renal outer medulla|outer renal medulla|set of outer region of renal pyramids|zona externa (medullaris renalis)|outer zone of renal medulla|zona externa medullae renalis|outer zone of medulla of kidney MONDO:0016405 sterol metabolism disorder with epilepsy biolink:Disease mondo Orphanet:225710|UMLS:CN226918 UMLS:CN226918|ORPHA:225710 http://purl.obolibrary.org/obo/MONDO_0016405 ordo_group_of_disorders MONDO:0016406 other metabolic disease with epilepsy biolink:Disease mondo Orphanet:225713|UMLS:CN201333 ORPHA:225713|UMLS:CN201333 http://purl.obolibrary.org/obo/MONDO_0016406 ordo_group_of_disorders|obsoletion_candidate UBERON:0001292 distal convoluted tubule biolink:AnatomicalEntity mondo The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted renal tubule|tubulus contortus distalis|tubulus contortus distalis|tubulus convolutus distalis|second convoluted tubule UBERON:0001295 endometrium biolink:AnatomicalEntity mondo the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy http://purl.obolibrary.org/obo/UBERON_0001295 uterine endometrium|uterine mucosa|tunica mucosa uteri|tunica mucosa (endometrium)|uterine mucous membrane MONDO:0016407 oligomeganephronia biolink:Disease mondo GARD:4066|ICD10:Q60.4|Orphanet:2260|GARD:0004066|SCTID:18417009|UMLS:C0431694|NCIT:C123202|DOID:0111142 Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. SNOMEDCT:18417009|DOID:0111142|UMLS:C0431694|NCIT:C123202|ORPHA:2260 http://purl.obolibrary.org/obo/MONDO_0016407 Oligomeganephronic renal hypoplasia ordo_morphological_anomaly MONDO:0016408 permanent congenital hypothyroidism biolink:Disease mondo ICD10:E03.0|Orphanet:226292|ICD10:E03.1 Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth. ORPHA:226292 http://purl.obolibrary.org/obo/MONDO_0016408 ordo_group_of_disorders UBERON:0001294 inner medulla of kidney biolink:AnatomicalEntity mondo Innermost region of the mammalian kidney. http://purl.obolibrary.org/obo/UBERON_0001294 zona interna (medullaris renalis)|zona interna medullae renalis|kidney inner medulla|renal inner medulla|inner renal medulla|set of inner region of renal pyramids|inner zone of renal medulla|inner zone of medulla of kidney MONDO:0016401 energy metabolism disorder with epilepsy biolink:Disease mondo Orphanet:225696|UMLS:CN226915 UMLS:CN226915|ORPHA:225696 http://purl.obolibrary.org/obo/MONDO_0016401 ordo_group_of_disorders MONDO:0016402 mitochondrial disease with epilepsy biolink:Disease mondo Orphanet:225700|UMLS:CN201331 ORPHA:225700|UMLS:CN201331 http://purl.obolibrary.org/obo/MONDO_0016402 ordo_group_of_disorders MONDO:0016403 mitochondrial disease with peripheral neuropathy biolink:Disease mondo UMLS:CN201332|Orphanet:225703 ORPHA:225703|UMLS:CN201332 http://purl.obolibrary.org/obo/MONDO_0016403 ordo_group_of_disorders UBERON:0001290 proximal straight tubule biolink:AnatomicalEntity mondo The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. http://purl.obolibrary.org/obo/UBERON_0001290 pars recta|tubulus rectus proximalis|proximal tubule segment 3|thick descending limb of proximal tubule|S3|segment 3 of proximal tubule|pars recta tubuli renalis MONDO:0016404 metabolic neurotransmission anomaly with epilepsy biolink:Disease mondo Orphanet:225707 ORPHA:225707 http://purl.obolibrary.org/obo/MONDO_0016404 ordo_group_of_disorders MONDO:0016400 metal transport or utilization disorder with epilepsy biolink:Disease mondo Orphanet:225692|UMLS:CN226914 UMLS:CN226914|ORPHA:225692 http://purl.obolibrary.org/obo/MONDO_0016400 ordo_group_of_disorders UBERON:0001297 serosa of uterus biolink:AnatomicalEntity mondo Outer serosa layer of the uterus. http://purl.obolibrary.org/obo/UBERON_0001297 visceral peritoneum of uterus|serous membrane of uterus|uterine serosa|serous coat of uterus|tunica serosa (perimetrium)|uterus serosa|tunica serosa uteri|uterus serous membrane|perimetrium MONDO:0004409 nipple duct carcinoma biolink:Disease mondo UMLS:C1334967|NCIT:C27234|DOID:7953 A carcinoma that develops in the ducts of the nipple. DOID:7953|UMLS:C1334967|NCIT:C27234 http://purl.obolibrary.org/obo/MONDO_0004409 nipple duct carcinoma GO:0070134 positive regulation of mitochondrial translational initiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. http://purl.obolibrary.org/obo/GO_0070134 positive regulation of mitochondrial translation initiation NCBITaxon:33278 Ancylostomatidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33278 MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma biolink:Disease mondo UMLS:C1516760|DOID:7951|NCIT:C42059 A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume. UMLS:C1516760|DOID:7951|NCIT:C42059 http://purl.obolibrary.org/obo/MONDO_0004408 composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor UBERON:0001296 myometrium biolink:AnatomicalEntity mondo the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium http://purl.obolibrary.org/obo/UBERON_0001296 tunica muscularis|tunica muscularis (myometrium)|uterine smooth muscle|uterine myometrium GO:0070132 regulation of mitochondrial translational initiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. http://purl.obolibrary.org/obo/GO_0070132 regulation of mitochondrial translation initiation UBERON:0001299 glans penis biolink:AnatomicalEntity mondo the conic expansion of the corpus spongiosum that forms the head of the penis http://purl.obolibrary.org/obo/UBERON_0001299 glans|balanus|coronal sulcus GO:0070133 negative regulation of mitochondrial translational initiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. http://purl.obolibrary.org/obo/GO_0070133 negative regulation of mitochondrial translation initiation MONDO:0004427 supraglottis neoplasm biolink:Disease mondo UMLS:C0345726|DOID:8002|NCIT:C6793|SCTID:126697005 A benign or malignant neoplasm that affects the supraglottic area of the larynx. NCIT:C6793|SNOMEDCT:126697005|DOID:8002|UMLS:C0345726 http://purl.obolibrary.org/obo/MONDO_0004427 supraglottic neoplasm|supraglottis neoplasm|tumor of supraglottis|neoplasm of supraglottic part of larynx|tumor of the supraglottis|supraglottic part of larynx tumor|supraglottic part of larynx neoplasm|supraglottic tumor|neoplasm of supraglottis|tumor of supraglottic part of larynx|supraglottic part of larynx neoplasm (disease)|supraglottis tumor|neoplasm of the supraglottis NCBITaxon:33264 Dictyocaulidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33264 MONDO:0004426 frontal convexity meningioma biolink:Disease mondo UMLS:C1333643|DOID:8000|NCIT:C5292 A meningioma that affects the frontal sulcus. NCIT:C5292|DOID:8000|UMLS:C1333643 http://purl.obolibrary.org/obo/MONDO_0004426 SO:0000252 rRNA biolink:SequenceFeature mondo RNA that comprises part of a ribosome, and that can provide both structural scaffolding and catalytic activity. http://purl.obolibrary.org/obo/SO_0000252 ribosomal ribonucleic acid|INSDC_feature:rRNA|INSDC_qualifier:unknown|ribosomal RNA MONDO:0004429 skin meningioma biolink:Disease mondo DOID:8006|UMLS:C1335481 A meningioma (disease) that involves the zone of skin. DOID:8006|UMLS:C1335481 http://purl.obolibrary.org/obo/MONDO_0004429 primary meningioma of the skin|zone of skin meningioma (disease)|meningioma (disease) of zone of skin GO:0045184 establishment of protein localization biolink:OntologyClass mondo The directed movement of a protein to a specific location. http://purl.obolibrary.org/obo/GO_0045184 protein recruitment|establishment of protein localisation|protein positioning MONDO:0004428 alveoli adenoma biolink:Disease mondo ICDO:8251/0|NCIT:C4140|UMLS:C0334303|DOID:8003 A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative. NCIT:C4140|DOID:8003|UMLS:C0334303 http://purl.obolibrary.org/obo/MONDO_0004428 alveolar adenoma|adenoma of the alveoli|adenoma of alveoli|adenoma, bronchioloalveolar, benign|alveolar adenoma (morphologic abnormality) MONDO:0004423 central nervous system extraskeletal osteosarcoma biolink:Disease mondo NCIT:C7002|UMLS:C1335150|DOID:7994 An osteosarcoma arising from the brain or spinal cord. NCIT:C7002|UMLS:C1335150|DOID:7994 http://purl.obolibrary.org/obo/MONDO_0004423 central nervous system osteosarcoma|central nervous system osteosarcoma (disease)|osteosarcoma of central nervous system|osteosarcoma of the central nervous system|central nervous system extraskeletal osteosarcoma MONDO:0004422 cerebral falx meningioma biolink:Disease mondo DOID:7986|UMLS:C1333597|NCIT:C5267 A meningioma that affects the falx cerebri. NCIT:C5267|DOID:7986|UMLS:C1333597 http://purl.obolibrary.org/obo/MONDO_0004422 meningioma (disease) of falx cerebri|meningioma of falx of cerebrum|falx cerebri meningioma|meningioma of falx cerebri|meningioma of the falx of the cerebrum|meningioma of the falx cerebri|falx cerebri meningioma (disease)|meningioma of the cerebral falx|meningioma of cerebral falx|Falcine meningioma GO:0045182 translation regulator activity biolink:OntologyClass mondo Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome. http://purl.obolibrary.org/obo/GO_0045182 translation factor activity MONDO:0004425 hyperthyroidism biolink:Disease mondo MESH:D006980|DOID:7998|ICD9:242.90|EFO:0009189|NCIT:C3123|ICD10:E05.9|SCTID:34486009 Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. SNOMEDCT:34486009|MESH:D006980|NCIT:C3123|DOID:7998 http://purl.obolibrary.org/obo/MONDO_0004425 overactive thyroid MONDO:0004424 familial glomangioma biolink:Disease mondo NCIT:C5350|DOID:7996|UMLS:C1333987 A familial glomus tumor. NCIT:C5350|DOID:7996|UMLS:C1333987 http://purl.obolibrary.org/obo/MONDO_0004424 familial glomangioma|hereditary glomangioma MONDO:0004421 sclerosing breast papilloma biolink:Disease mondo NCIT:C27944|DOID:7984|UMLS:C1335932 A breast papilloma characterized by the presence of predominant sclerosing architectural features. NCIT:C27944|UMLS:C1335932|DOID:7984 http://purl.obolibrary.org/obo/MONDO_0004421 sclerosing breast papilloma|Complex sclerosing papillary lesion of the breast|Complex sclerosing papillary lesion MONDO:0004420 breast malignant eccrine spiradenoma biolink:Disease mondo DOID:7983|UMLS:C1334565|NCIT:C5180 A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast. NCIT:C5180|UMLS:C1334565|DOID:7983 http://purl.obolibrary.org/obo/MONDO_0004420 malignant eccrine spiradenoma of breast|malignant eccrine spiradenoma of the breast|malignant breast eccrine spiradenoma|malignant spiradenoma of breast|breast malignant spiradenoma GO:0045187 regulation of circadian sleep/wake cycle, sleep biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. http://purl.obolibrary.org/obo/GO_0045187 regulation of sleep UBERON:0001282 intralobular bile duct biolink:AnatomicalEntity mondo the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule http://purl.obolibrary.org/obo/UBERON_0001282 canal of Hering|canals of Hering|cholangiole|duct of Herring|intrahepatic bile ductule|ductus interlobularis bilifer|canal of Herring UBERON:0001281 hepatic sinusoid biolink:AnatomicalEntity mondo Wide thin-walled blood vessels in the liver. In mammals they have neither veinous or arterial markers. http://purl.obolibrary.org/obo/UBERON_0001281 liver sinusoid|vas capillare sinusoideum|hepatic sinusoids|sinusoid of liver|liver hepatic sinusoids|liver sinusoidal blood vessel|vas sinusoideum|sinusoidal blood vessel of liver GO:0070129 regulation of mitochondrial translation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. http://purl.obolibrary.org/obo/GO_0070129 regulation of mitochondrial protein anabolism|regulation of mitochondrial protein biosynthesis|regulation of mitochondrial protein synthesis|regulation of mitochondrial protein formation UBERON:0001280 liver parenchyma biolink:AnatomicalEntity mondo The functional units of the liver including the lobules. http://purl.obolibrary.org/obo/UBERON_0001280 hepatic parenchyme|liver parenchyme|parenchyma of liver|hepatic parenchyma UBERON:0001289 descending limb of loop of Henle biolink:AnatomicalEntity mondo the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of Henle's loop|descending limb|loop of Henle descending limb GO:0070125 mitochondrial translational elongation biolink:OntologyClass mondo The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion. http://purl.obolibrary.org/obo/GO_0070125 mitochondrial translation elongation GO:0070126 mitochondrial translational termination biolink:OntologyClass mondo The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa). http://purl.obolibrary.org/obo/GO_0070126 mitochondrial translation termination UBERON:0001285 nephron biolink:AnatomicalEntity mondo The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP] http://purl.obolibrary.org/obo/UBERON_0001285 mature nephron|nephroneum|tubulus renalis MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma biolink:Disease mondo NCIT:C39822|DOID:7972|UMLS:C1512739 DOID:7972|UMLS:C1512739|NCIT:C39822 http://purl.obolibrary.org/obo/MONDO_0004419 infiltrating bladder urothelial carcinoma, lymphoma-like variant GO:0070124 mitochondrial translational initiation biolink:OntologyClass mondo The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/GO_0070124 mitochondrial translation initiation UBERON:0001288 loop of Henle biolink:AnatomicalEntity mondo the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine http://purl.obolibrary.org/obo/UBERON_0001288 Henle's loop|ansa nephroni|Henle loop SO:0000248 sequence_length_alteration biolink:SequenceFeature mondo A kind of kind of sequence alteration where the copies of a region present varies across a population. http://purl.obolibrary.org/obo/SO_0000248 sequence length alteration NCBITaxon:33265 Dictyocaulinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33265 UBERON:0001287 proximal convoluted tubule biolink:AnatomicalEntity mondo The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. http://purl.obolibrary.org/obo/UBERON_0001287 renal proximal convoluted tubule|PCT|tubulus contortus proximalis|1st convoluted tubule|first convoluted tubule|tubulus convolutus proximalis|kidney proximal convoluted tubule|proximal convoluted renal tubule|tubulus contortus proximalis MONDO:0100160 alcoholic ketoacidosis biolink:Disease mondo An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae. http://purl.obolibrary.org/obo/MONDO_0100160 alcoholic ketosis|alcoholic acidosis MONDO:0100161 hyperkalemic renal tubular acidosis biolink:Disease mondo Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://purl.obolibrary.org/obo/MONDO_0100161 type 4 renal tubular acidosis|type 4 RTA|hyperkalemic RTA MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children biolink:Disease mondo DOID:0080711|NCIT:C172127 A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms. DOID:0080711|NCIT:C172127 http://purl.obolibrary.org/obo/MONDO_0100163 pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2|PIMS-TS|PMIS|multisystem inflammatory syndrome in children associated with COVID-19|MIS-C|multisystem inflammatory syndrome in children|COVID-19 associated multisystem inflammatory syndrome in children|pediatric multi-system inflammatory syndrome potentially associated with COVID-19|PIMS|COVID-19 Kawasaki-like syndrome|pediatric inflammatory multisystem syndrome|pediatric multisystem inflammatory syndrome|multisystem inflammatory syndrome in children associated with coronavirus disease 2019|COVID-19 -related pediatric inflammatory multisystem syndrome|paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2|SARS-CoV-2 Kawasaki-like syndrome MONDO:0100164 permanent neonatal diabetes mellitus biolink:Disease mondo UMLS:C1833104|GARD:0010457|Orphanet:99885|ICD10:P70.2|OMIMPS:606176|SCTID:609565001|NCIT:C114902|DOID:0060639 Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. SNOMEDCT:609565001|ORPHA:99885|NCIT:C114902|DOID:0060639|UMLS:C1833104 http://purl.obolibrary.org/obo/MONDO_0100164 permanent diabetes mellitus of infancy|PDMI|diabetes mellitus, permanent neonatal, with neurologic features|PNDM|diabetes mellitus, permanent, of infancy|monogenic diabetes of infancy|developmental delay, epilepsy, and neonatal diabetes|diabetes mellitus, permanent neonatal; PNDM|diabetes mellitus, permanent neonatal gard_rare|ordo_disease MONDO:0100165 permanent neonatal diabetes mellitus 1 biolink:Disease mondo OMIM:606176 A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well. http://identifiers.org/omim/606176 http://purl.obolibrary.org/obo/MONDO_0100165 PDMI|PNDM1|diabetes mellitus, permanent, of infancy GO:0008324 cation transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of cation from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0008324 transmembrane cation transporter activity GO:0035947 obsolete regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of gluconeogenesis, by regulation of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0035947 regulation of glucose biosynthesis by regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by regulation of transcription from Pol II promoter GO:0035948 obsolete positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0035948 regulation of glucose biosynthesis by up-regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by up regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by stimulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by positive regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by upregulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by activation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by upregulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by upregulation of transcription from RNA polymerase II promoter GO:0035949 obsolete positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0035949 positive regulation of glucose biosynthesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down-regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthesis by down regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by inhibition of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from Pol II promoter|positive regulation of gluconeogenesis by down regulation of transcription from RNA polymerase II promoter FOODON:03400685 022 tree nuts (tn) (ccpr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0685 Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed. The seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit. The edible portion of the nut is consumed in succulent, dried or processed forms. http://purl.obolibrary.org/obo/FOODON_03400685 MONDO:0100172 intellectual disability, autosomal dominant biolink:Disease mondo OMIMPS:156200 http://purl.obolibrary.org/obo/MONDO_0100172 mental retardation, autosomal dominant|autosomal dominant intellectual disability MONDO:0100175 TTN-related myopathy biolink:Disease mondo A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes. http://purl.obolibrary.org/obo/MONDO_0100175 TTN myopathy|congenital myopathy related to TTN MONDO:0100176 AP-4 deficiency syndrome biolink:Disease mondo A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures. http://purl.obolibrary.org/obo/MONDO_0100176 GO:0035933 glucocorticoid secretion biolink:OntologyClass mondo The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/GO_0035933 GO:0035935 androgen secretion biolink:OntologyClass mondo The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates. http://purl.obolibrary.org/obo/GO_0035935 GO:0035930 corticosteroid hormone secretion biolink:OntologyClass mondo The regulated release of any corticosteroid hormone into the circulatory system. http://purl.obolibrary.org/obo/GO_0035930 corticosteroid secretion GO:0035931 mineralocorticoid secretion biolink:OntologyClass mondo The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. http://purl.obolibrary.org/obo/GO_0035931 GO:0035932 aldosterone secretion biolink:OntologyClass mondo The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. http://purl.obolibrary.org/obo/GO_0035932 MONDO:0100184 GTP cyclohydrolase I deficiency biolink:Disease mondo A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease. http://purl.obolibrary.org/obo/MONDO_0100184 GTP-cyclohydrolase I deficiency MONDO:0100185 immune reconstitution inflammatory syndrome biolink:Disease mondo An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens. http://purl.obolibrary.org/obo/MONDO_0100185 immune reconstitution syndrome|IRD|immune reconstitution inflammatory syndrome associated with Kaposi sarcoma|IRS|immune restoration disease|IRIS MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia biolink:Disease mondo GARD:0002844|UMLS:C0268467|Orphanet:2102|OMIM:233910|NCIT:C141442|ICD10:E70.1|SCTID:23447005 http://identifiers.org/omim/233910|NCIT:C141442|UMLS:C0268467|SNOMEDCT:23447005|ORPHA:2102 http://purl.obolibrary.org/obo/MONDO_0100186 hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency|dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive|GTPCH deficiency|hyperphenylalaninemia due to GTP cyclohydrolase deficiency|HPABH4B|hyperphenylalaninemia, BH4-deficient, B|hyperphenylalaninemia, BH4-deficient, B; HPABH4B|hyperphenylalaninemia, Bh4-deficient, type B|GTP cyclohydrolase I deficiency|GTP cyclohydrolase 1 deficiency gard_rare|ordo_clinical_subtype MONDO:0100188 combined ApoA-I and ApoC-III deficiency biolink:Disease mondo A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III. http://purl.obolibrary.org/obo/MONDO_0100188 ApoA-I and apoC-III deficiency, combined MONDO:0100189 apolipoprotein A-I deficiency biolink:Disease mondo Orphanet:425 A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). ORPHA:425 http://purl.obolibrary.org/obo/MONDO_0100189 ApoA-I deficiency|familial apoA-I deficiency|familial hypoalphalipoproteinemia GO:0008301 DNA binding, bending biolink:OntologyClass mondo The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. http://purl.obolibrary.org/obo/GO_0008301 DNA bending involving DNA binding|DNA bending activity GO:0035929 steroid hormone secretion biolink:OntologyClass mondo The regulated release of any steroid that acts as a hormone into the circulatory system. http://purl.obolibrary.org/obo/GO_0035929 MONDO:0100192 liver failure biolink:Disease mondo NCIT:C26922 A liver disease characterized by the liver losing or has lost all of its function. NCIT:C26922 http://purl.obolibrary.org/obo/MONDO_0100192 hepatic failure MONDO:0100193 chronic liver failure biolink:Disease mondo NCIT:C84428 Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition. NCIT:C84428 http://purl.obolibrary.org/obo/MONDO_0100193 end-stage liver disease|end stage liver disease (decompensated liver disease)|end stage liver disease|ESLD MONDO:0100194 pregnancy associated osteoporosis biolink:Disease mondo A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation. http://purl.obolibrary.org/obo/MONDO_0100194 pregnancy and lactation-associated osteoporosis MONDO:0100195 X-linked intellectual disability with hypopituitarism biolink:Disease mondo An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease. http://purl.obolibrary.org/obo/MONDO_0100195 MONDO:0100196 TPM2-related myopathy biolink:Disease mondo A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree. http://purl.obolibrary.org/obo/MONDO_0100196 autosomal dominant TPM2-related myopathy|TPM2 myopathy|congenital myopathy related to TPM2 MONDO:0100197 parainfluenza infectious disease biolink:Disease mondo OMOP:4008269 A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults. http://purl.obolibrary.org/obo/MONDO_0100197 parainfluenza infectious disorder|HPIV infectious disorder|parainfluenza (disorder)|human parainfluenza virus infectious disorder|human parainfluenza viruses infectious disorder UBERON:0003528 brain gray matter biolink:AnatomicalEntity mondo A gray matter that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003528 gray matter of brain|grey substance of brain|grey matter of brain|brain grey substance|brain grey matter UBERON:0003529 respiratory system lymphatic vessel endothelium biolink:AnatomicalEntity mondo An lymphatic vessel endothelium that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003529 apparatus respiratorius lymphatic vessel endothelium|endothelium of lymph vessel of respiratory system|apparatus respiratorius lymph vessel endothelium|apparatus respiratorius endothelium of lymph vessel|lymph vessel endothelium of apparatus respiratorius|lymphatic vessel endothelium of respiratory system|lymphatic vessel endothelium of apparatus respiratorius|lymph vessel endothelium of respiratory system|respiratory system endothelium of lymph vessel|respiratory system lymphatic vessel endothelium|respiratory system lymph vessel endothelium|endothelium of lymph vessel of apparatus respiratorius UBERON:0003526 respiratory system capillary biolink:AnatomicalEntity mondo A capillary that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003526 apparatus respiratorius blood capillary|capillary vessel of respiratory system|capillary of apparatus respiratorius|respiratory system blood capillary|respiratory system capillary vessel|capillary of respiratory system|capillary vessel of apparatus respiratorius|apparatus respiratorius capillary|apparatus respiratorius capillary vessel|blood capillary of respiratory system|blood capillary of apparatus respiratorius UBERON:0003527 kidney capillary biolink:AnatomicalEntity mondo A capillary that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003527 kidney blood capillary|renal capillary|capillary of kidney|blood capillary of kidney|capillary vessel of kidney|kidney capillary vessel FOODON:03400644 a. primary food commodities of plant origin (ccpr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0644 http://purl.obolibrary.org/obo/FOODON_03400644 FOODON:03400643 Codex Alimentarius classification of food and feed commodities biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0643 Codex Alimentarius, Volume 2 - 1993, Section 2: Pesticide Residues in Food. The Codex Classification of food and animal feed commodities moving in trade and the description of the various items and groups of food and animal feedstuffs included in the present document have been developed by the Codex Committee on Pesticide Residues. It was first adopted by the 18th Session of the Codex Alimentarius Commission, (1989). The Codex Classification includes food commodities and animal feedstuffs for which Codex maximum residue limits will not necessarily be established. The Classification is intended to be as complete a listing of food commodities in trade as possible, classified into groups on the basis of the commodity's similar potential for pesticide residues. The Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set. http://purl.obolibrary.org/obo/FOODON_03400643 CHEBI:58570 D-tyrosine zwitterion biolink:ChemicalSubstance mondo A D-alpha-amino acid zwitterion that is D-tyrosine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_58570 D-tyrosine|(2R)-2-ammonio-3-(4-hydroxyphenyl)propanoate UBERON:0003536 right lung alveolar duct biolink:AnatomicalEntity mondo An alveolar duct that is part of a right lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003536 alveolar duct of right lung UBERON:0003533 manual digit skin biolink:AnatomicalEntity mondo A zone of skin that is part of a finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003533 skin of terminal segment of free upper limb digit|skin of hand digit|hand digit skin|skin of finger|skin of digit of hand|skin of digitus manus|skin of digit of terminal segment of free upper limb|digitus manus skin|fore limb digit skin|digit of hand skin|digit of terminal segment of free upper limb skin|hand digit skin|terminal segment of free upper limb digit skin|finger skin UBERON:0003534 tail skin biolink:AnatomicalEntity mondo A zone of skin that is part of a tail [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003534 post-vent region skin|skin of post-vent region|skin of tail UBERON:0003531 forelimb skin biolink:AnatomicalEntity mondo A zone of skin that is part of a forelimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003531 skin of fore limb|upper limb skin|fore limb skin|wing skin|skin of upper limb|anteriormost limb skin|skin of forelimb UBERON:0003532 hindlimb skin biolink:AnatomicalEntity mondo A zone of skin that is part of a hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003532 hind limb skin|skin of lower extremity|skin of hindlimb|lower limb skin|skin of lower limb|skin of hind limb NCBITaxon:310911 Amdoparvovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_310911 Amdovirus UBERON:0003530 pedal digit skin biolink:AnatomicalEntity mondo A zone of skin that is part of a toe [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003530 foot digit skin|skin of foot digit|skin of digitus pedis|skin of digit of foot|skin of digit of terminal segment of free lower limb|digit of foot skin|digitus pedis skin|foot digit skin|digit of terminal segment of free lower limb skin|hind limb digit skin|skin of terminal segment of free lower limb digit|skin of toe|toe skin|terminal segment of free lower limb digit skin MONDO:0006903 peroneal nerve paralysis biolink:Disease mondo ICD10:G57.3|EFO:1001102|SCTID:399088004|UMLS:C0270810|DOID:6925|MedDRA:10033828|NCIT:C27061 Paralysis of the nerves located in the legs. SNOMEDCT:399088004|DOID:6925|UMLS:C0270810|NCIT:C27061 http://purl.obolibrary.org/obo/MONDO_0006903 nerve palsy, peroneal|palsy, peroneal nerve|peroneal nerve palsy MONDO:0006904 phimosis biolink:Disease mondo NCIT:C26852|ICD10:N47.1|EFO:1001104|MedDRA:10034878|SCTID:449826002|MESH:D010688|DOID:2712 A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes. NCIT:C26852|SNOMEDCT:449826002|MESH:D010688|DOID:2712 http://purl.obolibrary.org/obo/MONDO_0006904 tight frenulum|tight foreskin MONDO:0006901 peritoneal neoplasm biolink:Disease mondo MedDRA:10061344|SCTID:126865007|EFO:1001100|MESH:D010534|NCIT:C3322 A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. NCIT:C3322|MESH:D010534|SNOMEDCT:126865007 http://purl.obolibrary.org/obo/MONDO_0006901 peritoneal neoplasm|peritoneum tumor|peritoneum neoplasm|tumor of peritoneum|peritoneum neoplasm (disease)|neoplasm of peritoneum UBERON:0003519 thoracic cavity blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003519 pectoral cavity blood vessel|cavity of chest blood vessel|blood vessel of chest cavity|chest cavity blood vessel|blood vessel of cavity of thorax|cavity of thorax blood vessel|blood vessel of thoracic cavity|blood vessel of cavity of chest|blood vessel of pectoral cavity MONDO:0006902 obsolete periventricular leukomalacia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006902 UBERON:0003517 kidney blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003517 renal blood vessel|blood vessel of kidney MONDO:0006900 perinephritis biolink:Disease mondo DOID:2982|SCTID:111404004|MESH:D010501|EFO:1001099|MedDRA:10072058|UMLS:C0031065 Inflammation of the connective and adipose tissues surrounding the kidney. SNOMEDCT:111404004|UMLS:C0031065|MESH:D010501|DOID:2982 http://purl.obolibrary.org/obo/MONDO_0006900 perirenal fat inflammation|inflammation of perirenal fat UBERON:0003518 main bronchus blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003518 blood vessel of principal bronchus|principal bronchus blood vessel|principal bronchus vascular element|blood vessel of primary bronchus|blood vessel of main bronchus|bronchus principalis blood vessel|blood vessel of bronchus principalis|primary bronchus blood vessel|primary bronchus vascular element UBERON:0003515 forelimb blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a forelimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003515 wing blood vessel|fore limb blood vessel|anteriormost limb blood vessel|blood vessel of forelimb|blood vessel of anteriormost limb|blood vessel of upper extremity|blood vessel of fore limb UBERON:0003516 hindlimb blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003516 blood vessel of hind limb|hind limb blood vessel|blood vessel of lower extremity|blood vessel of hindlimb GO:0045321 leukocyte activation biolink:OntologyClass mondo A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0045321 immune cell activation|leucocyte activation FOODON:03400652 04 nuts and seeds (ccpr) biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A0652 TYPE 04 - NUTS AND SEEDS Nuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated. The mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed. http://purl.obolibrary.org/obo/FOODON_03400652 UBERON:0003524 tail blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a tail [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003524 blood vessel of tail|post-vent region blood vessel|blood vessel of post-vent region UBERON:0003522 manual digit blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003522 blood vessel of terminal segment of free upper limb digit|terminal segment of free upper limb digit blood vessel|finger blood vessel|hand digit blood vessel|blood vessel of digit of terminal segment of free upper limb|digit of terminal segment of free upper limb blood vessel|hand digit blood vessel UBERON:0003523 manus blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a manus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003523 blood vessel of hand|blood vessel of manus|hand blood vessel UBERON:0003520 pelvis blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a pelvis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003520 blood vessel of pelvis UBERON:0003521 pes blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a foot [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003521 blood vessel of foot|foot blood vessel UBERON:0003508 pedal digit blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a toe [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003508 digitus pedis blood vessel|digit of foot blood vessel|foot digit blood vessel|digit of terminal segment of free lower limb blood vessel|blood vessel of terminal segment of free lower limb digit|blood vessel of toe|hind limb digit blood vessel|toe blood vessel|terminal segment of free lower limb digit blood vessel|foot digit blood vessel|blood vessel of foot digit|blood vessel of digit of foot|blood vessel of digitus pedis|blood vessel of digit of terminal segment of free lower limb UBERON:0003509 arterial blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. http://purl.obolibrary.org/obo/UBERON_0003509 UBERON:0003506 chest blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a chest [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003506 blood vessel of anterolateral part of thorax|anterior thoracic region blood vessel|anterolateral part of thorax blood vessel|blood vessel of anterior thoracic region|blood vessel of chest|front of thorax blood vessel|blood vessel of front of thorax UBERON:0003507 arm blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of an arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003507 blood vessel of arm UBERON:0003504 respiratory system blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003504 blood vessel of apparatus respiratorius|apparatus respiratorius blood vessel|blood vessel of respiratory system UBERON:0003505 trachea blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a trachea. http://purl.obolibrary.org/obo/UBERON_0003505 blood vessel of trachea UBERON:2001431 primitive olfactory epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_2001431 GO:0045333 cellular respiration biolink:OntologyClass mondo The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration). http://purl.obolibrary.org/obo/GO_0045333 oxidative metabolic process|respiration|oxidative metabolism GO:0060973 cell migration involved in heart development biolink:OntologyClass mondo The orderly movement of a cell from one site to another that will contribute to the progression of the heart over time, from its initial formation, to the mature organ. http://purl.obolibrary.org/obo/GO_0060973 UBERON:0003513 trunk blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003513 blood vessel of trunk|blood vessel of torso|torso blood vessel UBERON:0003514 limb blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003514 blood vessel of limb UBERON:0003511 iris blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a iris [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003511 blood vessel of iris UBERON:0003512 lung blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003512 blood vessel of lung|pulmonary vascular element UBERON:0003510 eyelid blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003510 blood vessel of blepharon|blood vessel of eyelid|blepharon blood vessel OBO:mondo#DEPRECATED A synonym that is historic and discouraged biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#DEPRECATED UBERON:0003502 neck blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a neck [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003502 blood vessel of neck|neck (volume) blood vessel|blood vessel of neck (volume) UBERON:0003503 leg blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003503 blood vessel of leg UBERON:0003500 corneal blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a cornea [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003500 blood vessel of cornea|cornea blood vessel UBERON:0003501 retina blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a retina [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003501 blood vessel of inner layer of eyeball|blood vessel of retina|tunica interna of eyeball blood vessel|inner layer of eyeball blood vessel|retinal blood vessel|blood vessel of tunica interna of eyeball MONDO:0041261 disorder of acid-base balance biolink:Disease mondo SCTID:26436007|UMLS:C0268029 UMLS:C0268029|SNOMEDCT:26436007 http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance|disturbance of acid-base balance ECTO:9001811 protic solvent exposure biolink:OntologyClass mondo An exposure to protic solvent. http://purl.obolibrary.org/obo/ECTO_9001811 exposure to protic solvent MONDO:0041259 diphtheritic myocarditis biolink:Disease mondo SCTID:26117009|UMLS:C0152952 An myocarditis caused by infection with Corynebacterium diphtheriae. SNOMEDCT:26117009|UMLS:C0152952 http://purl.obolibrary.org/obo/MONDO_0041259 Corynebacterium diphtheriae myocarditis|diphtheritic myocarditis|Corynebacterium diphtheriae caused myocarditis ECTO:9001813 amphiprotic solvent exposure biolink:OntologyClass mondo An exposure to amphiprotic solvent. http://purl.obolibrary.org/obo/ECTO_9001813 exposure to amphiprotic solvent GO:0033365 protein localization to organelle biolink:OntologyClass mondo A process in which a protein is transported to, or maintained in, a location within an organelle. http://purl.obolibrary.org/obo/GO_0033365 protein localization in organelle|protein localisation to organelle GO:0033363 secretory granule organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. http://purl.obolibrary.org/obo/GO_0033363 secretory granule organisation|secretory granule organization and biogenesis MONDO:0016290 Hernández-Aguirre Negrete syndrome biolink:Disease mondo Orphanet:2139|MONDO:0022314|SCTID:721146009|GARD:0003491|ICD10:Q87.8|MESH:C538112 Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait. MESH:C538112|ORPHA:2139|SNOMEDCT:721146009|UMLS:C2931736 http://purl.obolibrary.org/obo/MONDO_0016290 Ehlers-Danlos syndrome with progeroid facies and mild mental retardation|intellectual disability-epilepsy-bulbous nose syndrome|Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability ordo_malformation_syndrome MONDO:0016291 craniosynostosis, Herrmann-Opitz type biolink:Disease mondo ICD10:Q75.0|Orphanet:2145|UMLS:CN226893|GARD:0002671 Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. ORPHA:2145|UMLS:CN226893 http://purl.obolibrary.org/obo/MONDO_0016291 Herrmann Opitz craniosynostosis gard_rare|ordo_malformation_syndrome MONDO:0016292 nodular neuronal heterotopia biolink:Disease mondo SCTID:253151003|Orphanet:2149|ICD10:Q04.8|GARD:0002661 ORPHA:2149|SNOMEDCT:253151003 http://purl.obolibrary.org/obo/MONDO_0016292 genetic nodular heterotopia|hereditary nodular heterotopia|nodular heterotopia ordo_morphological_anomaly MONDO:0016293 congenital stationary night blindness biolink:Disease mondo Orphanet:215|DOID:0050534|ICD10:H53.6|ICD10:H53.63|SCTID:232061009|ICD9:368.61|MESH:C536122|OMIMPS:310500 ORPHA:215|MESH:C536122|UMLS:C0339535|DOID:0050534|SNOMEDCT:232061009 http://purl.obolibrary.org/obo/MONDO_0016293 night blindness, congenital stationary|congenital essential nyctalopia ordo_disease ECTO:9001822 antagonist exposure biolink:OntologyClass mondo An exposure to antagonist. http://purl.obolibrary.org/obo/ECTO_9001822 exposure to antagonist MONDO:0016298 postlingual non-syndromic genetic deafness biolink:Disease mondo SCTID:764097002|Orphanet:216452 Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed. SNOMEDCT:764097002|ORPHA:216452 http://purl.obolibrary.org/obo/MONDO_0016298 isolated postlingual genetic deafness ordo_disease MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome biolink:Disease mondo ICD10:Q04.2|Orphanet:2165|UMLS:CN201097 Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). ORPHA:2165|UMLS:CN201097 http://purl.obolibrary.org/obo/MONDO_0016299 ordo_malformation_syndrome MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome biolink:Disease mondo MESH:C538319|Orphanet:2150|ICD10:Q43.1|UMLS:C1844017|GARD:0002700|OMIM:306980 Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out. ORPHA:2150|MESH:C538319|UMLS:C1844017|http://identifiers.org/omim/306980 http://purl.obolibrary.org/obo/MONDO_0016294 Hirschsprung disease with type D brachydactyly|Hirschsprung disease with type d brachydactyly|Hirschsprung disease type d brachydactyly|familial Hirschsprung's disease and type D brachydactyly ordo_malformation_syndrome MONDO:0016295 neuronal ceroid lipofuscinosis biolink:Disease mondo OMIMPS:256730|GARD:0010739|Orphanet:216|NCIT:C61257|DOID:14503|ICD10:E75.4|SCTID:42012007|UMLS:C0027877 Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. UMLS:C0027877|MESH:D009472|ORPHA:216|DOID:14503|NCIT:C61257|SNOMEDCT:42012007 http://purl.obolibrary.org/obo/MONDO_0016295 NCL|ceroid lipofuscinoses|hereditary ceroid lipofuscinosis ordo_group_of_disorders MONDO:0016296 holoprosencephaly biolink:Disease mondo ICD10:Q04.2|MESH:D016142|UMLS:C0079541|NCIT:C74988|DOID:4621|OMIMPS:236100|Orphanet:2162|GARD:0006665|SCTID:30915001|MedDRA:10056304 Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. ORPHA:2162|UMLS:C0079541|SNOMEDCT:30915001|DOID:4621|NCIT:C74988|MEDDRA:10056304|MESH:D016142 http://purl.obolibrary.org/obo/MONDO_0016296 HPE|holoprosencephaly sequence gard_rare|ordo_malformation_syndrome MONDO:0016297 prelingual non-syndromic genetic deafness biolink:Disease mondo SCTID:764098007|Orphanet:216445 Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. ORPHA:216445|SNOMEDCT:764098007 http://purl.obolibrary.org/obo/MONDO_0016297 isolated prelingual genetic deafness ordo_disease MONDO:0016280 sarcoma of cervix uteri biolink:Disease mondo UMLS:CN201070|ICD10:C53.8|ICD10:C53.0|Orphanet:213797|ICD10:C53.1 A sarcoma involving a uterine cervix. UMLS:CN201070|ORPHA:213797 http://purl.obolibrary.org/obo/MONDO_0016280 sarcoma of uterine cervix|malignant mesenchymal tumor of cervix uteri|cervical malignant mesenchymal tumor|cervical sarcoma|uterine cervix sarcoma ordo_group_of_disorders MONDO:0016281 46,XX ovotesticular disorder of sex development biolink:Disease mondo ICD10:Q56.0|SCTID:18978002|MESH:D050090|Orphanet:2138|UMLS:CN776920|NCIT:C127167|UMLS:C2748895 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. ORPHA:2138|NCIT:C127167|UMLS:C2748895|MESH:D050090|UMLS:CN776920|SNOMEDCT:18978002 http://purl.obolibrary.org/obo/MONDO_0016281 ovotesticular disorders of Sex development|46,XX ovotesticular DSD|ovotesticular differences of Sex development|ovotesticular DSD|true hermaphroditism ordo_malformation_syndrome ECTO:0001659 chloroacetic acid exposure biolink:OntologyClass mondo An exposure to chloroacetic acid. http://purl.obolibrary.org/obo/ECTO_0001659 exposure to chloroacetic acid MONDO:0016282 rhabdomyosarcoma of the cervix uteri biolink:Disease mondo ICD10:C53.8|UMLS:CN201072|UMLS:C4289809|ICD10:C53.0|Orphanet:213802|ICD10:C53.1|NCIT:C128048|ONCOTREE:CERMS|SCTID:763408003 A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix. UMLS:C4289809|UMLS:CN201072|NCIT:C128048|ORPHA:213802|SNOMEDCT:763408003 http://purl.obolibrary.org/obo/MONDO_0016282 rhabdomyosarcoma (disease) of uterine cervix|uterine cervix rhabdomyosarcoma|cervical rhabdomyosarcoma|CERMS|uterine cervix rhabdomyosarcoma (disease) ordo_disease MONDO:0100100 SELENON-related myopathy biolink:Disease mondo Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present. http://purl.obolibrary.org/obo/MONDO_0100100 SEPN1-related myopathy MONDO:0004298 stomach disease biolink:Disease mondo UMLS:C0038354|NCIT:C26886|ICD9:537.9|SCTID:29384001|MESH:D013272|DOID:76|ICD9:537.89 A disease involving the stomach. NCIT:C26886|DOID:76|UMLS:C0038354|MESH:D013272|SNOMEDCT:29384001 http://purl.obolibrary.org/obo/MONDO_0004298 gastropathy|disorder of stomach|gastric disease|stomach disease|disease or disorder of stomach|disease of stomach|stomach disease or disorder|stomach disorder|disorder of stomach MONDO:0004297 lymphoepithelioma-like thymic carcinoma biolink:Disease mondo UMLS:C0279706|NCIT:C7998|DOID:7599 A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection. DOID:7599|UMLS:C0279706|NCIT:C7998 http://purl.obolibrary.org/obo/MONDO_0004297 lymphoepithelioma-like carcinoma of the Thymus|malignant lymphoepithelial thymoma|lymphoepithelioma-like Thymus carcinoma|lymphoepithelial cancer of Thymus|lymphoepithelial cancer of the Thymus|lymphoepithelial Thymus cancer|lymphoepithelioma-like thymic carcinoma|lymphoepithelioma-like carcinoma of Thymus|thymic lymphoepithelioma-like carcinoma MONDO:0100101 fetal akinesia deformation sequence 1 biolink:Disease mondo OMIM:208150|Orphanet:994 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene. ORPHA:994|http://identifiers.org/omim/208150 http://purl.obolibrary.org/obo/MONDO_0100101 FADS1|Pena-Shokeir syndrome type 1|Pena-Shokeir syndrome, type 1 MONDO:0100102 fetal akinesia deformation sequence 2 biolink:Disease mondo OMIM:618388 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene. http://identifiers.org/omim/618388 http://purl.obolibrary.org/obo/MONDO_0100102 FADS2 MONDO:0100103 fetal akinesia deformation sequence 3 biolink:Disease mondo OMIM:618389 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene. http://identifiers.org/omim/618389 http://purl.obolibrary.org/obo/MONDO_0100103 FADS3 MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma biolink:Disease mondo EFO:1000302|UMLS:C1512736|NCIT:C39821|DOID:7600 NCIT:C39821|DOID:7600|UMLS:C1512736 http://purl.obolibrary.org/obo/MONDO_0004299 infiltrating bladder lymphoepithelioma-like carcinoma MONDO:0004294 gestational ovarian choriocarcinoma biolink:Disease mondo NCIT:C40442|DOID:7591|UMLS:C1517538 A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present. UMLS:C1517538|DOID:7591|NCIT:C40442 http://purl.obolibrary.org/obo/MONDO_0004294 gestational ovarian choriocarcinoma MONDO:0100104 fetal akinesia deformation sequence 4 biolink:Disease mondo OMIM:618393 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene. http://identifiers.org/omim/618393 http://purl.obolibrary.org/obo/MONDO_0100104 FADS4 MONDO:0004293 supraglottis squamous cell carcinoma biolink:Disease mondo NCIT:C4945|DOID:7587|UMLS:C0749163 A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue. NCIT:C4945|DOID:7587|UMLS:C0749163 http://purl.obolibrary.org/obo/MONDO_0004293 squamous cell carcinoma of the supraglottis|supraglottic part of larynx squamous cell carcinoma|epidermoid carcinoma of supraglottis|supraglottic squamous cell carcinoma|supraglottis squamous cell carcinoma|epidermoid carcinoma of the supraglottis|supraglottis epidermoid carcinoma|supraglottic epidermoid carcinoma|squamous cell carcinoma of supraglottis MONDO:0041284 primary motor cortex epilepsy biolink:Disease mondo UMLS:C0234978|SCTID:267592003 A epilepsy that involves the primary motor cortex. UMLS:C0234978|SNOMEDCT:267592003 http://purl.obolibrary.org/obo/MONDO_0041284 primary motor cortex epilepsy|Jacksonian epilepsy|epilepsy of primary motor cortex|motor cortex epilepsy MONDO:0100105 brain small vessel disease 3 biolink:Disease mondo OMIM:618360 An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. http://identifiers.org/omim/618360 http://purl.obolibrary.org/obo/MONDO_0100105 BSVD3 MONDO:0004296 cervical lymphoepithelioma-like carcinoma biolink:Disease mondo NCIT:C40193|UMLS:C1516418|DOID:7598 A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate. UMLS:C1516418|NCIT:C40193|DOID:7598 http://purl.obolibrary.org/obo/MONDO_0004296 cervical lymphoepithelioma-like carcinoma MONDO:0100106 neonatal epileptic encephalopathy biolink:Disease mondo A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death. http://purl.obolibrary.org/obo/MONDO_0100106 MONDO:0004295 asbestos-related lung carcinoma biolink:Disease mondo DOID:7596|NCIT:C27925|UMLS:C1332337 A carcinoma arising in the lung due to exposure to asbestos. NCIT:C27925|DOID:7596|UMLS:C1332337 http://purl.obolibrary.org/obo/MONDO_0004295 asbestos-related lung carcinoma|asbestos-related lung cancer MONDO:0100107 non-neonatal early infantile epileptic encephalopathy biolink:Disease mondo Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death. http://purl.obolibrary.org/obo/MONDO_0100107 MONDO:0004290 subglottis verrucous carcinoma biolink:Disease mondo UMLS:C0280330|NCIT:C8190|DOID:7584 An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx. DOID:7584|NCIT:C8190|UMLS:C0280330 http://purl.obolibrary.org/obo/MONDO_0004290 subglottis verrucous carcinoma|subglottic verrucous carcinoma|verrucous carcinoma of subglottis|verrucous carcinoma of the subglottis MONDO:0004292 supraglottis verrucous carcinoma biolink:Disease mondo UMLS:C0280331|NCIT:C8191|DOID:7586 An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx. DOID:7586|NCIT:C8191|UMLS:C0280331 http://purl.obolibrary.org/obo/MONDO_0004292 verrucous carcinoma of supraglottis|verrucous carcinoma of the supraglottis|supraglottic verrucous carcinoma|supraglottis verrucous carcinoma|supraglottic part of larynx verrucous carcinoma MONDO:0004291 subglottis squamous cell carcinoma biolink:Disease mondo UMLS:C0280326|NCIT:C8187|DOID:7585 A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland. DOID:7585|NCIT:C8187|UMLS:C0280326 http://purl.obolibrary.org/obo/MONDO_0004291 epidermoid carcinoma of the subglottis|squamous cell carcinoma of subglottis|subglottis squamous cell carcinoma|squamous cell carcinoma of the subglottis|epidermoid carcinoma of subglottis|subglottic epidermoid carcinoma|subglottic squamous cell carcinoma|subglottis epidermoid carcinoma MONDO:0016287 adenoid basal carcinoma of the cervix uteri biolink:Disease mondo ICD10:C53.1|Orphanet:213828|ICD10:C53.8|UMLS:CN201077|ICD10:C53.0 A skin adenoid basal cell carcinoma that involves the uterine cervix. UMLS:CN201077|ORPHA:213828 http://purl.obolibrary.org/obo/MONDO_0016287 skin adenoid basal cell carcinoma of uterine cervix|uterine cervix skin adenoid basal cell carcinoma|cervical adenoid basal carcinoma ordo_disease MONDO:0016288 obsolete glassy cell carcinoma of the cervix uteri biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016288 MONDO:0016289 malignant germ cell tumor of cervix uteri biolink:Disease mondo Orphanet:213837|ICD10:C53.8|ICD10:C53.0|UMLS:CN201079|ICD10:C53.1 A malignant germ cell tumor that involves the uterine cervix. UMLS:CN201079|ORPHA:213837 http://purl.obolibrary.org/obo/MONDO_0016289 germ cell cancer of cervix uteri|cervical malignant germ cell tumor|germ cell cancer of the cervix uteri|malignant germ cell tumor of the cervix uteri|cervical germ cell cancer|uterine cervix malignant germ cell tumor ordo_disease MONDO:0016283 leiomyosarcoma of the cervix uteri biolink:Disease mondo Orphanet:213807|ICD10:C53.1|UMLS:C4289817|NCIT:C128047|ICD10:C53.8|SCTID:763771009|ONCOTREE:CELI|UMLS:CN201073|ICD10:C53.0 Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver. UMLS:C4289817|UMLS:CN201073|NCIT:C128047|ORPHA:213807|SNOMEDCT:763771009 http://purl.obolibrary.org/obo/MONDO_0016283 cervical leiomyosarcoma|CELI|uterine cervix leiomyosarcoma|leiomyosarcoma of uterine cervix ordo_disease GO:0033343 positive regulation of collagen binding biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of collagen binding. http://purl.obolibrary.org/obo/GO_0033343 activation of collagen binding|upregulation of collagen binding|up regulation of collagen binding|stimulation of collagen binding|up-regulation of collagen binding MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri biolink:Disease mondo ICD10:C53.0|ICD10:C53.1|Orphanet:213812|UMLS:CN201074|ICD10:C53.8 Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement. UMLS:CN201074|ORPHA:213812 http://purl.obolibrary.org/obo/MONDO_0016284 cervical malignant peripheral neuroectodermal tumor|peripheral neuroectodermal cancer of cervix uteri|cervical peripheral neuroectodermal cancer|malignant peripheral neuroectodermal tumor of the cervix uteri ordo_disease GO:0033342 negative regulation of collagen binding biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding. http://purl.obolibrary.org/obo/GO_0033342 down regulation of collagen binding|inhibition of collagen binding|down-regulation of collagen binding|downregulation of collagen binding MONDO:0016285 papillary carcinoma of the cervix uteri biolink:Disease mondo ICD10:C53.1|Orphanet:213817|ICD10:C53.8|UMLS:CN201075|ICD10:C53.0 A papillary carcinoma that involves the uterine cervix. UMLS:CN201075|ORPHA:213817 http://purl.obolibrary.org/obo/MONDO_0016285 uterine cervix papillary carcinoma|cervical papillary carcinoma ordo_disease GO:0033341 regulation of collagen binding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of collagen binding. http://purl.obolibrary.org/obo/GO_0033341 MONDO:0016286 adenoid cystic carcinoma of the cervix uteri biolink:Disease mondo ICD10:C53.8|ICD10:C53.0|ICD10:C53.1|Orphanet:213823 A adenoid cystic carcinoma that involves the uterine cervix. ORPHA:213823 http://purl.obolibrary.org/obo/MONDO_0016286 uterine cervix adenoid cystic carcinoma|cervical adenoid cystic carcinoma ordo_disease MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri biolink:Disease mondo ICD10:C54.8|ICD10:C54.3|Orphanet:213736|ICD10:C54.2|ICD10:C54.1|UMLS:CN201059|ICD10:C54.0 Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop. UMLS:CN201059|ORPHA:213736 http://purl.obolibrary.org/obo/MONDO_0016270 well-differentiated neuroendocrine tumor of the endometrium|low-grade neuroendocrine tumor of the uterine corpus|well-differentiated neuroendocrine tumor of the corpus uteri|well-differentiated neuroendocrine neoplasm of the endometrium ordo_disease MONDO:0016271 adenoid cystic carcinoma of the corpus uteri biolink:Disease mondo ICD10:C54.8|ICD10:C54.3|ICD10:C54.2|ICD10:C54.1|Orphanet:213741|ICD10:C54.0 A adenoid cystic carcinoma that involves the body of uterus. ORPHA:213741 http://purl.obolibrary.org/obo/MONDO_0016271 endometrial adenoid cystic carcinoma|body of uterus adenoid cystic carcinoma ordo_disease MONDO:0100110 adenovirus renal infection biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0100110 MONDO:0100112 ACBD5 deficiency biolink:Disease mondo A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay. http://purl.obolibrary.org/obo/MONDO_0100112 acyl-CoA binding domain containing protein 5 deficiency ECTO:9001809 polar solvent exposure biolink:OntologyClass mondo An exposure to polar solvent. http://purl.obolibrary.org/obo/ECTO_9001809 exposure to polar solvent MONDO:0100113 hearing loss with skin disease biolink:Disease mondo Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes. http://purl.obolibrary.org/obo/MONDO_0100113 MONDO:0100114 dry age related macular degeneration biolink:Disease mondo MEDDRA:10075567 Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy. http://purl.obolibrary.org/obo/MONDO_0100114 dry AMD|dry ARMD MONDO:0100115 acute flaccid myelitis biolink:Disease mondo NCIT:C128379 An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause. NCIT:C128379 http://purl.obolibrary.org/obo/MONDO_0100115 AFM MONDO:0100116 Middle East respiratory syndrome biolink:Disease mondo UMLS:C3694279|Orphanet:576074|NCIT:C128424|DOID:0080642 A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome. NCIT:C128424|ORPHA:576074|UMLS:C3694279|DOID:0080642 http://purl.obolibrary.org/obo/MONDO_0100116 MERS|camel flu ordo_disease MONDO:0041295 acute papillary necrosis biolink:Disease mondo SCTID:270494003 Acute form of kidney papillary necrosis. SNOMEDCT:270494003 http://purl.obolibrary.org/obo/MONDO_0041295 kidney papillary necrosis, acute|acute renal medullary necrosis|acute papillary necrosis|acute necrotizing papillitis|acute kidney papillary necrosis GO:0008395 steroid hydroxylase activity biolink:OntologyClass mondo Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. http://purl.obolibrary.org/obo/GO_0008395 cytochrome P450 CYP2G1|olfactory-specific steroid hydroxylase activity MONDO:0100108 TPM3-related myopathy biolink:Disease mondo TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation. http://purl.obolibrary.org/obo/MONDO_0100108 TPM3 myopathy|congenital myopathy related to TPM3|autosomal dominant TPM3-related myopathy ECTO:9001804 protein synthesis inhibitor exposure biolink:OntologyClass mondo An exposure to protein synthesis inhibitor. http://purl.obolibrary.org/obo/ECTO_9001804 exposure to protein synthesis inhibitor MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri biolink:Disease mondo ICD10:C53.0|ICD10:C53.1|Orphanet:213777|ICD10:C53.8|UMLS:CN201066 High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent. UMLS:CN201066|ORPHA:213777 http://purl.obolibrary.org/obo/MONDO_0016276 high-grade neuroendocrine carcinoma of the uterine cervix|poorly differentiated neuroendocrine cervical carcinoma|poorly differentiated neuroendocrine carcinoma of the cervix uteri ordo_disease MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri biolink:Disease mondo Orphanet:213782|ICD10:C53.8|ICD10:C53.0|ICD10:C53.1|UMLS:CN201067 UMLS:CN201067|ORPHA:213782 http://purl.obolibrary.org/obo/MONDO_0016277 cervical malignant mixed epithelial and mesenchymal tumor|mixed epithelial and mesenchymal cancer of cervix uteri ordo_group_of_disorders MONDO:0016278 obsolete carcinosarcoma of the cervix uteri biolink:Disease mondo Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported. http://purl.obolibrary.org/obo/MONDO_0016278 uterine cervix carcinosarcoma MONDO:0016279 obsolete adenosarcoma of the cervix uteri biolink:Disease mondo Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps. http://purl.obolibrary.org/obo/MONDO_0016279 uterine cervix adenosarcoma MONDO:0016272 transitional cell carcinoma of the corpus uteri biolink:Disease mondo ICD10:C54.1|Orphanet:213746 A transitional cell carcinoma that involves the body of uterus. ORPHA:213746 http://purl.obolibrary.org/obo/MONDO_0016272 body of uterus transitional cell carcinoma|endometrial transitional cell carcinoma ordo_disease MONDO:0016273 malignant germ cell tumor of corpus uteri biolink:Disease mondo UMLS:CN201062|ICD10:C54.8|ICD10:C54.3|ICD10:C54.2|ICD10:C54.1|ICD10:C54.0|Orphanet:213751 A malignant germ cell tumor that involves the body of uterus. UMLS:CN201062|ORPHA:213751 http://purl.obolibrary.org/obo/MONDO_0016273 germ cell cancer of corpus uteri|germ cell cancer of the corpus uteri|body of uterus malignant germ cell tumor|malignant germ cell tumor of the corpus uteri ordo_disease MONDO:0016274 obsolete rare cancer of cervix uteri biolink:Disease mondo UMLS:CN201063|Orphanet:213761 Rare cervical cancer. UMLS:CN201063|ORPHA:213761 http://purl.obolibrary.org/obo/MONDO_0016274 rare cervical malignant tumor|rare malignant tumor of cervix uteri|rare cervical cancer obsoletion_candidate|ordo_group_of_disorders MONDO:0016275 adenocarcinoma of cervix uteri biolink:Disease mondo Orphanet:213772|ICD10:C53.8|ICD10:C53.0|ICD10:C53.1 A adenocarcinoma that involves the uterine cervix. ORPHA:213772 http://purl.obolibrary.org/obo/MONDO_0016275 cervical adenocarcinoma|uterine cervix adenocarcinoma ordo_disease MONDO:0100120 vector-borne disease biolink:Disease mondo https://orcid.org/0000-0002-2825-0621 An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne infection|vector-borne infectious disease MONDO:0100121 SCN4A-related myopathy, autosomal recessive biolink:Disease mondo https://www.clinicalgenome.org/affiliation/40061/ Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy. http://purl.obolibrary.org/obo/MONDO_0100121 congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis|myopathy with ptosis and mild dystrophic pattern|congenital myopathy with severe fetal hypokinesia MONDO:0100124 NAA10-related syndrome biolink:Disease mondo NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies. http://purl.obolibrary.org/obo/MONDO_0100124 NAA10 X-linked syndromic intellectual disability|X-linked syndromic intellectual disability caused by mutation in NAA10 GO:0008366 axon ensheathment biolink:OntologyClass mondo Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal. http://purl.obolibrary.org/obo/GO_0008366 nerve ensheathment|cellular nerve ensheathment|cellular axon ensheathment MONDO:0043885 eye infectious disease biolink:Disease mondo UMLS:C0015403|SCTID:128351009|NCIT:C45372|MESH:D015817 An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma. UMLS:C0015403|MESH:D015817|SNOMEDCT:128351009|NCIT:C45372 http://purl.obolibrary.org/obo/MONDO_0043885 infection, eye|ocular infections|infection, ocular|infections, ocular|eye infection|ocular infection|infections, eye MONDO:0100125 hallucinogen-persisting perception disorder biolink:Disease mondo ICD10:F16.183 A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses. http://purl.obolibrary.org/obo/MONDO_0100125 hallucinogen abuse with hallucinogen persisting perception disorder MONDO:0100126 P5CS deficiency biolink:Disease mondo An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy. http://purl.obolibrary.org/obo/MONDO_0100126 delta1-pyrroline-5-carboxylate synthetase deficiency MONDO:0100128 coinfection biolink:Disease mondo UMLS:C0275524 The simultaneous infection of a host by multiple pathogen species. UMLS:C0275524 http://purl.obolibrary.org/obo/MONDO_0100128 HGNC:28596 B3GALNT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/28596 MONDO:0100129 intracranial arachoid cyst biolink:Disease mondo OMIM:207790 A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. http://identifiers.org/omim/207790 http://purl.obolibrary.org/obo/MONDO_0100129 arachnoid cysts, intracranial|intracranial arachnoid cysts MONDO:0043881 obsolete acute eosinophilic leukemia biolink:Disease mondo MESH:D015472|SCTID:277604002|UMLS:C0023439|NCIT:C26813|EFO:1001888 A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001) MESH:D015472|SNOMEDCT:277604002|UMLS:C0023439|NCIT:C26813 http://purl.obolibrary.org/obo/MONDO_0043881 leukemias, acute eosinophilic|eosinophilic leukemia, acute|eosinophilic leukemias, acute|acute eosinophilic leukemias|leukemia, acute eosinophilic|acute eosinophilic leukemia MONDO:0043878 hereditary optic atrophy biolink:Disease mondo MESH:D015418|NCIT:C34864|UMLS:C0029125|SCTID:26360005 A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. UMLS:C0029125|MESH:D015418|SNOMEDCT:26360005|NCIT:C34864 http://purl.obolibrary.org/obo/MONDO_0043878 atrophy, hereditary optic|optic atrophy, hereditary|hereditary optic atrophy|Atrophies, hereditary optic|hereditary optic Atrophies MONDO:0100130 adult acute respiratory distress syndrome biolink:Disease mondo UMLS:C0035222|DOID:11394|Orphanet:70578|SCTID:67782005|MESH:D012128 A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%. MESH:D012128|SNOMEDCT:67782005|UMLS:C0035222|ORPHA:70578|DOID:11394 http://purl.obolibrary.org/obo/MONDO_0100130 adult RDS|respiratory distress syndrome, adult|ARDS|adult ARDS|adult acute respiratory distress syndrome|adult respiratory distress syndrome, ARDS|adult respiratory distress syndrome ordo_disease MONDO:0100131 pediatric acute respiratory distress syndrome biolink:Disease mondo Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded. http://purl.obolibrary.org/obo/MONDO_0100131 PARDS MONDO:0100132 intrahepatic bile duct adenosquamous carcinoma biolink:Disease mondo An adenosquamous carcinoma that arises from the intrahepatic bile ducts. http://purl.obolibrary.org/obo/MONDO_0100132 MONDO:0043895 ankle injury biolink:Disease mondo EFO:1001832|MESH:D016512|SCTID:125603006 Harm or hurt to the ankle or ankle joint usually inflicted by an external source. SNOMEDCT:125603006|MESH:D016512 http://purl.obolibrary.org/obo/MONDO_0043895 Injuries, ankle|injury, ankle|tarsal region injury|ankle sprain|ankle Sprains|Injuries, syndesmotic|injury, syndesmotic|injury of tarsal region|ankle injury|syndesmotic injury|syndesmotic Injuries|sprain, ankle|injury of ankle|Sprains, ankle MONDO:0100133 mitochondrial complex I deficiency biolink:Disease mondo Orphanet:2609|GARD:0003908|MESH:C537475|DOID:0060536|UMLS:C2936907 A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. DOID:0060536|ORPHA:2609|MESH:C537475|UMLS:C2936907 http://purl.obolibrary.org/obo/MONDO_0100133 isolated NADH-CoQ reductase deficiency|isolated complex I deficiency|NADH coenzyme Q reductase deficiency|isolated mitochondrial respiratory chain complex I deficiency|isolated NADH-coenzyme Q reductase deficiency|complex 1 mitochondrial respiratory chain deficiency|isolated NADH-ubiquinone reductase deficiency ordo_disease|gard_rare MONDO:0100134 mitochondrial complex I deficiency, mitochondrial type biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0100134 MONDO:0100135 Dravet syndrome biolink:Disease mondo SCTID:230437002|UMLS:C0751122|DOID:0060171|GARD:0010430|NCIT:C116573|ICD9:345.10 Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. NCIT:C116573|UMLS:C0751122|SNOMEDCT:230437002|DOID:0060171 http://purl.obolibrary.org/obo/MONDO_0100135 Dravet syndrome|myoclonic epilepsy, severe, of infancy|DS|SME gard_rare MONDO:0100136 obsolete Fanconia anemia complementation group M biolink:Disease mondo OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene. http://purl.obolibrary.org/obo/MONDO_0100136 Fanconi anemia caused by mutation in FANCM|FANCM Fanconi anemia MONDO:0100137 telomere syndrome biolink:Disease mondo Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. http://purl.obolibrary.org/obo/MONDO_0100137 short telomere syndrome|STS MONDO:0100138 X-linked recessive mitochondrial myopathy biolink:Disease mondo A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features. http://purl.obolibrary.org/obo/MONDO_0100138 MONDO:0100139 asymptomatic COVID-19 infection biolink:Disease mondo A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease. http://purl.obolibrary.org/obo/MONDO_0100139 GO:0008374 O-acyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. http://purl.obolibrary.org/obo/GO_0008374 MONDO:0043892 prosthesis-related infectious disease biolink:Disease mondo MESH:D016459|EFO:1002021|NCIT:C79705 A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread. MESH:D016459|NCIT:C79705 http://purl.obolibrary.org/obo/MONDO_0043892 prosthesis-related infection|infections, prosthesis-related|prosthesis related infections|device related infection GO:0008373 sialyltransferase activity biolink:OntologyClass mondo Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. http://purl.obolibrary.org/obo/GO_0008373 GO:0008380 RNA splicing biolink:OntologyClass mondo The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. http://purl.obolibrary.org/obo/GO_0008380 pre-mRNA splicing factor activity MONDO:0100140 mild COVID-19 infection biolink:Disease mondo A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging. http://purl.obolibrary.org/obo/MONDO_0100140 MONDO:0100141 moderate COVID-19 infection biolink:Disease mondo A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level. http://purl.obolibrary.org/obo/MONDO_0100141 MONDO:0100142 severe COVID-19 infection biolink:Disease mondo A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%. http://purl.obolibrary.org/obo/MONDO_0100142 GO:0008348 negative regulation of antimicrobial humoral response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of an antimicrobial humoral response. http://purl.obolibrary.org/obo/GO_0008348 attenuation of antimicrobial humoral response|down regulation of antimicrobial humoral response|inhibition of antimicrobial humoral response|down-regulation of antimicrobial humoral response|downregulation of antimicrobial humoral response MONDO:0100143 critical COVID-19 infection biolink:Disease mondo A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction. http://purl.obolibrary.org/obo/MONDO_0100143 MONDO:0100144 Uner Tan Syndrome biolink:Disease mondo A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations. http://purl.obolibrary.org/obo/MONDO_0100144 recessive quadrupedalism MONDO:0100145 presymptomatic COVID-19 infection biolink:Disease mondo A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on. http://purl.obolibrary.org/obo/MONDO_0100145 MONDO:0100146 ATP6AP2-related disorder biolink:Disease mondo Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes. http://purl.obolibrary.org/obo/MONDO_0100146 MONDO:0100147 SATB2 associated disorder biolink:Disease mondo A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. http://purl.obolibrary.org/obo/MONDO_0100147 MONDO:0100148 X-linked complex neurodevelopmental disorder biolink:Disease mondo A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy. http://purl.obolibrary.org/obo/MONDO_0100148 HGNC:28570 DNAAF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/28570 CHEBI:141668 L-tyrosinal(1+) biolink:ChemicalSubstance mondo A primary ammonium ion resulting from the protonation of the amino group of L-tyrosinal. http://purl.obolibrary.org/obo/CHEBI_141668 L-tyrosinal|(2S)-1-(4-hydroxyphenyl)-3-oxopropan-2-aminium|(2S)-1-(p-hydroxyphenyl)-3-oxopropan-2-aminium MONDO:0100150 RYR1-related myopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0100150 MONDO:0100151 nephropathic cystinosis biolink:Disease mondo UMLS:C2930877|OMIM:219800|NCIT:C129932|MESH:C535335 An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. UMLS:C2930877|NCIT:C129932|MESH:C535335|http://identifiers.org/omim/219800 http://purl.obolibrary.org/obo/MONDO_0100151 Abderhalden-Kaufmann-Lignac syndrome|CTNS|cystinosis, nephropathic; CTNS|cystinosis, nephropathic|Abderhalden Lignac Kaufmann disease|Abderhalden Kaufmann Lignac syndrome|Abderhalden-Lignac-Kaufmann disease MONDO:0100152 DKC1-related disorder biolink:Disease mondo Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene. http://purl.obolibrary.org/obo/MONDO_0100152 MONDO:0100156 Imerslund-Grasbeck syndrome type 1 biolink:Disease mondo OMIM:261100|NCIT:C131677 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://identifiers.org/omim/261100|NCIT:C131677 http://purl.obolibrary.org/obo/MONDO_0100156 enterocyte intrinsic factor receptor, defect of|megaloblastic anemia, 1; MGA1|megaloblastic Anemia type 1|Mga1|pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|MGA-1|enterocyte cobalamin malabsorption|megaloblastic anemia, Finnish type MONDO:0100157 Imerslund-Grasbeck syndrome type 2 biolink:Disease mondo OMIM:618882 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://identifiers.org/omim/618882 http://purl.obolibrary.org/obo/MONDO_0100157 megaloblastic anemia, Norwegian type CHEBI:138015 endocrine disruptor biolink:ChemicalSubstance mondo Any compound that can disrupt the functions of the endocrine (hormone) system http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disrupting compound|endocrine disrupting compounds|endocrine-disrupting chemical|endocrine disrupting chemical|hormonally active agent|endocrine disrupting chemicals|hormonally active agents|endocrine-disrupting chemicals|endocrine disruptors HGNC:26019 BPNT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26019 HGNC:16691 TUBGCP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/16691 MONDO:0004357 carcinoma of supraglottis biolink:Disease mondo NCIT:C5973|SCTID:372105009|UMLS:C1299240|DOID:7763 A carcinoma of the larynx that arises from the supraglottic area. NCIT:C5973|DOID:7763|SNOMEDCT:372105009|UMLS:C1299240 http://purl.obolibrary.org/obo/MONDO_0004357 carcinoma of the supraglottis|supraglottic cancer|supraglottis carcinoma|carcinoma of supraglottic part of larynx|supraglottic part of larynx carcinoma|supraglottic throat cancer|supraglottic carcinoma|cancer of supraglottis|cancer of the supraglottis|carcinoma of supraglottis CHEBI:22501 aminodiol biolink:ChemicalSubstance mondo An amino alcohol having two hydroxy functional groups. http://purl.obolibrary.org/obo/CHEBI_22501 amino diol|aminodiols|amino diols MONDO:0004356 childhood multilocular cystic kidney neoplasm biolink:Disease mondo UMLS:C1332983|NCIT:C6566|DOID:7762 A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. DOID:7762|UMLS:C1332983|NCIT:C6566 http://purl.obolibrary.org/obo/MONDO_0004356 pediatric multilocular cystic kidney neoplasm|pediatric multilocular cystic kidney tumor|childhood multilocular cystic renal neoplasm|childhood multilocular cystic kidney neoplasm|childhood multilocular cystic kidney tumor|pediatric multilocular cystic renal neoplasm|childhood multilocular cystic renal tumor|pediatric multilocular cystic renal tumor|benign multilocular cystic renal tumor MONDO:0004359 delusional disorder biolink:Disease mondo COHD:432590|ICD10:F22|ICD10:F22.0|NCIT:C94379|DOID:778|SCTID:48500005|ICD9:297.1 A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s). SNOMEDCT:48500005|NCIT:C94379|DOID:778 http://purl.obolibrary.org/obo/MONDO_0004359 MONDO:0004358 subglottis carcinoma biolink:Disease mondo UMLS:C1299239|NCIT:C5972|SCTID:372104008|DOID:7764 A carcinoma of the larynx that arises from the subglottic area. NCIT:C5972|DOID:7764|SNOMEDCT:372104008|UMLS:C1299239 http://purl.obolibrary.org/obo/MONDO_0004358 carcinoma of the subglottis|carcinoma of subglottis|subglottis carcinoma|subglottic throat cancer|cancer of subglottis|cancer of the subglottis|subglottic cancer|subglottic carcinoma MONDO:0004353 extrahepatic biliary papillomatosis biolink:Disease mondo UMLS:C1333511|NCIT:C7124|DOID:7752 A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts. DOID:7752|UMLS:C1333511|NCIT:C7124 http://purl.obolibrary.org/obo/MONDO_0004353 extrahepatic bile duct papillary neoplasm|extrahepatic bile duct papillomatosis|extrahepatic biliary papillomatosis MONDO:0004352 adult brain ependymoma biolink:Disease mondo UMLS:C1332186|DOID:7750|NCIT:C9372 An ependymoma of the brain occurring in adults. DOID:7750|UMLS:C1332186|NCIT:C9372 http://purl.obolibrary.org/obo/MONDO_0004352 adult brain ependymoma|brain ependymoma MONDO:0004355 childhood leukemia biolink:Disease mondo DOID:7757|NCIT:C4989|UMLS:C1332977 An acute or chronic leukemia that occurs during childhood. NCIT:C4989|DOID:7757|UMLS:C1332977 http://purl.obolibrary.org/obo/MONDO_0004355 pediatric leukemia (disease)|leukemia|leukemia (disease) of childhood|childhood leukemia (disease)|childhood leukemia|pediatric leukemia (disease) MONDO:0004354 neonatal leukemia biolink:Disease mondo DOID:7756|NCIT:C3845|UMLS:C0235813 Leukemia that occurs during the neonatal period. NCIT:C3845|DOID:7756|UMLS:C0235813 http://purl.obolibrary.org/obo/MONDO_0004354 neonatal leukemia MONDO:0004351 intraocular lymphoma biolink:Disease mondo ICD10:C85,7|SCTID:420788006|ICD9:200.50|DOID:775|MESH:D064090|NCIT:C9184|Orphanet:279904 A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters. NCIT:C9184|DOID:775|MESH:D064090|ORPHA:279904|SNOMEDCT:420788006 http://purl.obolibrary.org/obo/MONDO_0004351 primary intraocular non-Hodgkin's lymphoma|primary intraocular lymphoma|PIOL|intraocular lymphoma ordo_disease MONDO:0004350 pediatric extraocular retinoblastoma biolink:Disease mondo DOID:7747|UMLS:C1321870|NCIT:C9048 Retinoblastoma during childhood that has spread beyond the eye. DOID:7747|UMLS:C1321870|NCIT:C9048 http://purl.obolibrary.org/obo/MONDO_0004350 pediatric extraocular retinoblastoma|childhood extraocular retinoblastoma|childhood metastatic retinoblastoma|extraocular retinoblastoma|extraocular retinoblastoma of childhood HGNC:26013 DNAAF5 biolink:OntologyClass mondo http://identifiers.org/hgnc/26013 HP:0005406 Recurrent bacterial skin infections biolink:PhenotypicFeature mondo UMLS:C1835686 Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. http://purl.obolibrary.org/obo/HP_0005406 Recurrent episodes of infectious dermatitis|Recurrent cutaneous pyogenic infections|Recurrent bacterial skin infections|Recurrent episodes of impetigo|Recurrent pyogenic skin infections MONDO:0043959 pseudolymphoma biolink:Disease mondo SCTID:19750001|MESH:D019310|NCIT:C3825|EFO:1001414|UMLS:C0221269 A neoplastic process that resembles a malignant lymphoma, but has a benign course. MESH:D019310|SNOMEDCT:19750001|UMLS:C0221269|NCIT:C3825 http://purl.obolibrary.org/obo/MONDO_0043959 lymphocytomas|hyperplasias, reactive lymphoid|hyperplasia, reactive lymphoid|lymphoid hyperplasia, reactive|pseudolymphoma|benign lymphoid hyperplasia|lymphocytoma|lymphoid Hyperplasias, reactive|reactive lymphoid hyperplasia|pseudolymphomas|reactive lymphoid Hyperplasias MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome biolink:Disease mondo GARD:0002775|SCTID:721231007|UMLS:CN201182|Orphanet:2183 This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. ORPHA:2183|UMLS:CN201182|SNOMEDCT:721231007 http://purl.obolibrary.org/obo/MONDO_0016346 congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism|hydrocephalus obesity hypogonadism|Sengers-Hamel-Otten syndrome ordo_malformation_syndrome MONDO:0016347 obsolete rare cardiac rhythm disease biolink:Disease mondo UMLS:CN201185|Orphanet:218436 A rare form of cardiac rhythm disease. UMLS:CN201185|ORPHA:218436 http://purl.obolibrary.org/obo/MONDO_0016347 rare cardiac rhythm disease obsoletion_candidate|ordo_group_of_disorders MONDO:0043953 burkholderia infectious disease biolink:Disease mondo SCTID:721736003|MESH:D019121|EFO:1001280 Infections with bacteria of the genus Burkholderia. MESH:D019121|SNOMEDCT:721736003 http://purl.obolibrary.org/obo/MONDO_0043953 Burkholderia disease or disorder|Burkholderia infectious disease|burkholderia infectious disease|infection, Burkholderia|Burkholderia caused disease or disorder|infections, Burkholderia|Burkholderia infection|infection caused by Burkholderia MONDO:0016348 non-genetic cardiac rhythm disease biolink:Disease mondo Orphanet:218439|UMLS:CN201186 UMLS:CN201186|ORPHA:218439 http://purl.obolibrary.org/obo/MONDO_0016348 ordo_group_of_disorders MONDO:0016349 congenital hydrocephalus biolink:Disease mondo COHD:438244|ICD10:Q03.9|OMIMPS:236600|ICD10:Q03.8|MedDRA:10010506|ICD10:Q03|UMLS:C0020256|SCTID:47032000|NCIT:C98876|ICD10:Q03.1|Orphanet:2185|ICD10:Q03.0 Hydrocephalus that is present at birth. UMLS:C0020256|ORPHA:2185|MEDDRA:10010506|SNOMEDCT:47032000|NCIT:C98876 http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus|HYC3 ordo_malformation_syndrome MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia biolink:Disease mondo UMLS:C4274968|Orphanet:217656|OMIMPS:107970|SCTID:715865008|UMLS:CN226907|ICD10:I42.8 Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms. UMLS:C4274968|UMLS:CN226907|ORPHA:217656|SNOMEDCT:715865008 http://purl.obolibrary.org/obo/MONDO_0016342 familial isolated arrhythmogenic right ventricular cardiomyopathy|familial isolated ARVC|familial isolated arrhythmogenic ventricular cardiomyopathy|familial isolated arrhythmogenic ventricular dysplasia|familial isolated ARVD ordo_disease MONDO:0016343 unclassified cardiomyopathy biolink:Disease mondo Orphanet:217678 ORPHA:217678 http://purl.obolibrary.org/obo/MONDO_0016343 ordo_group_of_disorders MONDO:0016344 hydranencephaly (disease) biolink:Disease mondo DOID:4626|UMLS:C0020225|MESH:D006832|SCTID:30023002|Orphanet:2177|HP:0002324|GARD:0006681|NCIT:C98949|ICD10:Q04.3 A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. ORPHA:2177|SNOMEDCT:30023002|DOID:4626|MESH:D006832|NCIT:C98949|UMLS:C0020225 http://purl.obolibrary.org/obo/MONDO_0016344 Hydroanencephaly|hydranencephaly ordo_malformation_syndrome MONDO:0016345 non-familial restrictive cardiomyopathy biolink:Disease mondo EFO:1001473|UMLS:CN226908|Orphanet:217720 UMLS:CN226908|ORPHA:217720 http://purl.obolibrary.org/obo/MONDO_0016345 ordo_group_of_disorders GO:0070278 extracellular matrix constituent secretion biolink:OntologyClass mondo The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell. http://purl.obolibrary.org/obo/GO_0070278 ECM constituent secretion|ECM secretion HGNC:16692 CD320 biolink:OntologyClass mondo http://identifiers.org/hgnc/16692 MONDO:0016340 familial restrictive cardiomyopathy biolink:Disease mondo SCTID:233878008|OMIMPS:115210|Orphanet:217635|ICD9:425.4 An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome. SNOMEDCT:233878008|UMLS:C0340429|ORPHA:217635 http://purl.obolibrary.org/obo/MONDO_0016340 hereditary restrictive cardiomyopathy ordo_group_of_disorders HGNC:16695 BCAP31 biolink:OntologyClass mondo http://identifiers.org/hgnc/16695 MONDO:0016341 lysosomal disease with restrictive cardiomyopathy biolink:Disease mondo Orphanet:217638|UMLS:CN201171 UMLS:CN201171|ORPHA:217638 http://purl.obolibrary.org/obo/MONDO_0016341 ordo_group_of_disorders MONDO:0004368 sphenoorbital meningioma biolink:Disease mondo UMLS:C1336040|NCIT:C5285|DOID:7819 A meningioma that affects the sphenoorbital region. DOID:7819|UMLS:C1336040|NCIT:C5285 http://purl.obolibrary.org/obo/MONDO_0004368 MONDO:0004367 petroclival meningioma biolink:Disease mondo UMLS:C1335395|NCIT:C5278|DOID:7818 A meningioma that affects the petroclival region. DOID:7818|NCIT:C5278|UMLS:C1335395 http://purl.obolibrary.org/obo/MONDO_0004367 MONDO:0004369 renal infectious disease biolink:Disease mondo ICD9:590|ICD10:N15.9|ICD9:590.9|DOID:782 DOID:782 http://purl.obolibrary.org/obo/MONDO_0004369 MONDO:0004364 choroid necrotic melanoma biolink:Disease mondo NCIT:C6865|DOID:7807|UMLS:C1333026 DOID:7807|NCIT:C6865|UMLS:C1333026 http://purl.obolibrary.org/obo/MONDO_0004364 necrotic melanoma of choroid|necrotic choroid melanoma|choroid necrotic melanoma|necrotic melanoma of the choroid MONDO:0004363 adult spinal cord glioblastoma biolink:Disease mondo NCIT:C27183|SCTID:276829003|DOID:7806|UMLS:C0559185 A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5) DOID:7806|NCIT:C27183|UMLS:C0559185|SNOMEDCT:276829003 http://purl.obolibrary.org/obo/MONDO_0004363 adult spinal cord glioblastoma|glioblastoma multiforme of spinal cord|adult spinal cord glioblastoma multiforme HGNC:26022 TRMT10C biolink:OntologyClass mondo http://identifiers.org/hgnc/26022 MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma biolink:Disease mondo DOID:7817|UMLS:C0280792|NCIT:C8272 A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components. DOID:7817|NCIT:C8272|UMLS:C0280792 http://purl.obolibrary.org/obo/MONDO_0004366 mixed astrocytoma-ependymoma-oligodendroglioma MONDO:0004365 necrotic uveal melanoma biolink:Disease mondo UMLS:C1334931|NCIT:C7990|DOID:7808 A uveal melanoma characterized by the presence of tumor cell necrosis. UMLS:C1334931|DOID:7808|NCIT:C7990 http://purl.obolibrary.org/obo/MONDO_0004365 MONDO:0004360 breast extraskeletal osteosarcoma biolink:Disease mondo UMLS:C1335149|DOID:7787|NCIT:C5189 An osteosarcoma arising from the breast tissue. NCIT:C5189|UMLS:C1335149|DOID:7787 http://purl.obolibrary.org/obo/MONDO_0004360 osteogenic sarcoma of breast|breast extraskeletal osteosarcoma|osteogenic breast sarcoma|osteosarcoma of breast|osteosarcoma of the breast|breast osteosarcoma|breast osteosarcoma (disease)|osteogenic sarcoma of the breast MONDO:0004362 obsolete placenta disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004362 MONDO:0004361 adult spinal cord ependymoma biolink:Disease mondo DOID:7788|UMLS:C1332215|NCIT:C27399 An ependymoma of the spinal cord occurring in adults. UMLS:C1332215|NCIT:C27399|DOID:7788 http://purl.obolibrary.org/obo/MONDO_0004361 adult spinal cord ependymoma|spinal cord ependymoma of adults|spinal cord ependymoma MONDO:0043969 nocturnal paroxysmal dystonia biolink:Disease mondo EFO:1001772|MESH:D020183|SCTID:230500006|UMLS:C0393777 A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391) SNOMEDCT:230500006|MESH:D020183|UMLS:C0393777 http://purl.obolibrary.org/obo/MONDO_0043969 dystonia, hypnogenic paroxysmal|sleep-related dystonia|paroxysmal dystonias, hypnogenic|paroxysmal dystonia, hypnogenic|dystonia, sleep-related|dystonias, nocturnal paroxysmal|hypnogenic paroxysmal dystonia|dystonia, nocturnal, paroxysmal|nocturnal paroxysmal dystonias|sleep-related dystonia|dystonias, hypnogenic paroxysmal|hypnogenic paroxysmal dystonias|paroxysmal dystonia, nocturnal|paroxysmal dystonias, nocturnal|dystonias, sleep-related|sleep-related dystonias|sleep related dystonia|dystonia, nocturnal paroxysmal MONDO:0016339 obsolete restrictive cardiomyopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016339 NCBITaxon:523089 Haemaphysalis concinna organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_523089 MONDO:0018998 Leber congenital amaurosis biolink:Disease mondo Orphanet:65|UMLS:C0339527|DOID:14791|OMIMPS:204000|MedDRA:10070667|ICD10:H35.5|SCTID:193413001|NCIT:C129075|MESH:D057130|GARD:0000634 Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. MESH:D057130|MEDDRA:10070667|NCIT:C129075|UMLS:C0339527|DOID:14791|SNOMEDCT:193413001|ORPHA:65 http://purl.obolibrary.org/obo/MONDO_0018998 Leber's congenital tapetoretinal degeneration|congenital retinal blindness|amaurosis congenita of Leber|Leber's congenital amaurosis|congenital absence of the rods and cones|Leber's disease|Leber's congenital tapetoretinal dysplasia|Leber's amaurosis|LCA ordo_disease MONDO:0016335 mitochondrial disease with dilated cardiomyopathy biolink:Disease mondo UMLS:CN201166|Orphanet:217613 ORPHA:217613|UMLS:CN201166 http://purl.obolibrary.org/obo/MONDO_0016335 ordo_group_of_disorders MONDO:0018997 Noonan syndrome biolink:Disease mondo DOID:3490|MedDRA:10029748|NCIT:C34854|OMIMPS:163950|UMLS:C0028326|SCTID:205824006|Orphanet:648|MESH:D009634|ICD10:Q87.1|GARD:0010955|ICD9:759.89 Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. UMLS:C0028326|MESH:D009634|ORPHA:648|NCIT:C34854|DOID:3490|MEDDRA:10029748|SNOMEDCT:205824006 http://purl.obolibrary.org/obo/MONDO_0018997 Turner's phenotype, karyotype normal|Noonan-Ehmke syndrome|pseudo-Ullrich-Turner syndrome|Noonan's syndrome|Noonan syndrome|Ullrich-Noonan syndrome clingen|ordo_malformation_syndrome MONDO:0016336 fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy biolink:Disease mondo UMLS:CN226905|Orphanet:217616 ORPHA:217616|UMLS:CN226905 http://purl.obolibrary.org/obo/MONDO_0016336 ordo_group_of_disorders MONDO:0016337 syndrome associated with dilated cardiomyopathy biolink:Disease mondo Orphanet:217619|UMLS:CN201167 ORPHA:217619|UMLS:CN201167 http://purl.obolibrary.org/obo/MONDO_0016337 ordo_group_of_disorders MONDO:0018999 LCAT deficiency biolink:Disease mondo ICD10:E78.6|SCTID:49227001|Orphanet:650 LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. ORPHA:650|SNOMEDCT:49227001 http://purl.obolibrary.org/obo/MONDO_0018999 lecithin-cholesterol acyltransferase deficiency ordo_disease MONDO:0016338 non-familial dilated cardiomyopathy biolink:Disease mondo UMLS:CN226906|Orphanet:217629 ORPHA:217629|UMLS:CN226906 http://purl.obolibrary.org/obo/MONDO_0016338 ordo_group_of_disorders MONDO:0018994 Charcot-Marie-Tooth disease type X biolink:Disease mondo GARD:0012444|SCTID:230552007|UMLS:CN205436|ICD9:356.9|DOID:0050542|ICD10:G60.0|Orphanet:64747 A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome. SNOMEDCT:230552007|DOID:0050542|UMLS:CN205436|ORPHA:64747 http://purl.obolibrary.org/obo/MONDO_0018994 CMTX|COWCK|Cowchock syndrome|X-linked hereditary motor and sensory neuropathy|X-linked Charcot-Marie-Tooth disease ordo_group_of_disorders MONDO:0016331 infantile systemic hyalinosis biolink:Disease mondo SCTID:238867003|Orphanet:2176|ICD10:E78.8 Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. ORPHA:2176|SNOMEDCT:238867003 http://purl.obolibrary.org/obo/MONDO_0016331 ordo_disease MONDO:0016332 hypertrophic cardiomyopathy due to intensive athletic training biolink:Disease mondo ICD10:I42.2|Orphanet:217601|UMLS:CN226904 UMLS:CN226904|ORPHA:217601 http://purl.obolibrary.org/obo/MONDO_0016332 ordo_disease MONDO:0018993 Charcot-Marie-Tooth disease type 2 biolink:Disease mondo GARD:0012431|ICD9:356.0|ICD10:G60.0|Orphanet:64746|SCTID:715665006|DOID:0050539 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. SNOMEDCT:715665006|DOID:0050539|ORPHA:64746 http://purl.obolibrary.org/obo/MONDO_0018993 hereditary motor and sensory neuropathy Guadalajara neuronal type|hereditary motor and sensory neuropathy Okinawa type|autosomal dominant axonal Charcot-Marie-Tooth disease|Charcot-Marie-Tooth type 2|CMT2|autosomal dominant Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy type 2 ordo_group_of_disorders MONDO:0018996 spinocerebellar ataxia with axonal neuropathy type 2 biolink:Disease mondo GARD:0012860|DOID:0050755|SCTID:725408001|Orphanet:64753|UMLS:CN205441|ICD10:G60.2 Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. DOID:0050755|SNOMEDCT:725408001|UMLS:CN205441|ORPHA:64753 http://purl.obolibrary.org/obo/MONDO_0018996 SCAN2|SCAR1|scan 2|AOA2|ataxia-oculomotor apraxia type 2|autosomal recessive spinocerebellar ataxia-1|ataxia with oculomotor apraxia type 2 ordo_disease MONDO:0016333 familial dilated cardiomyopathy biolink:Disease mondo Orphanet:217607|UMLS:C0340427|MESH:C536231|GARD:0000221|OMIMPS:115200|GARD:0002905|ICD10:I42.0 A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. MESH:C536231|UMLS:C0340427|ORPHA:217607 http://purl.obolibrary.org/obo/MONDO_0016333 hereditary dilated cardiomyopathy|DCM|dilated cardiomyopathy, familial|idiopathic dilated cardiomyopathy|hypokinetic dilated cardiomyopathy, familial ordo_group_of_disorders MONDO:0018995 Charcot-Marie-Tooth disease type 4 biolink:Disease mondo ICD10:G60.0|GARD:0012440|DOID:0050541|SCTID:715795005|Orphanet:64749|UMLS:CN043578 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. DOID:0050541|UMLS:CN043578|SNOMEDCT:715795005|ORPHA:64749 http://purl.obolibrary.org/obo/MONDO_0018995 CMT4|AR-CMT1|autosomal recessive demyelinating Charcot-Marie-Tooth|hereditary motor and sensory neuropathy ordo_group_of_disorders MONDO:0016334 neuromuscular disease with dilated cardiomyopathy biolink:Disease mondo UMLS:CN201165|Orphanet:217610 UMLS:CN201165|ORPHA:217610 http://purl.obolibrary.org/obo/MONDO_0016334 ordo_group_of_disorders HGNC:14048 MRPS16 biolink:OntologyClass mondo http://identifiers.org/hgnc/14048 MONDO:0018990 obsolete pulmonary blastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018990 MONDO:0018992 IgG4-related thyroid disease biolink:Disease mondo SCTID:89024000|Orphanet:64744|MedDRA:10039142|ICD10:E06.5 Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease. SNOMEDCT:89024000|UMLS:C0154162|MEDDRA:10039142|ORPHA:64744 http://purl.obolibrary.org/obo/MONDO_0018992 Riedel thyroiditis|Riedel disease ordo_disease MONDO:0018991 hepatoportal sclerosis biolink:Disease mondo SCTID:718096004|ICD10:K74.1|UMLS:C4273756|Orphanet:64743 Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. UMLS:C4273756|SNOMEDCT:718096004|ORPHA:64743 http://purl.obolibrary.org/obo/MONDO_0018991 obliterative portal venopathy ordo_disease MONDO:0016330 non-familial hypertrophic cardiomyopathy biolink:Disease mondo Orphanet:217598|UMLS:CN226903 An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. UMLS:CN226903|ORPHA:217598 http://purl.obolibrary.org/obo/MONDO_0016330 acquired hypertrophic cardiomyopathy ordo_group_of_disorders MONDO:0004339 tuberculum sellae meningioma biolink:Disease mondo UMLS:C1336829|NCIT:C5284|DOID:7713 A meningioma that affects the tuberculum sellae. NCIT:C5284|UMLS:C1336829|DOID:7713 http://purl.obolibrary.org/obo/MONDO_0004339 sella turcica neoplasm of tuberculum sellae|meningioma of the tuberculum sellae|meningioma of tuberculum sellae|tuberculum sellae sella turcica neoplasm MONDO:0004338 retinal cell cancer biolink:Disease mondo DOID:771 DOID:771 http://purl.obolibrary.org/obo/MONDO_0004338 malignant neoplasm of retinal cell|cancer of retinal cell|retinal cell cancer|malignant retinal cell neoplasm GO:0070293 renal absorption biolink:OntologyClass mondo A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). http://purl.obolibrary.org/obo/GO_0070293 nephron absorption|renal reabsorption MONDO:0006998 tonsil cancer biolink:Disease mondo ICD9:146.0|MESH:D014067|EFO:1001214|UMLS:C0751560|ICD10:C09.9|SCTID:363393007|MedDRA:10044002|ICD10:C09|COHD:4181339|NCIT:C7404|DOID:8858 A primary or metastatic malignant neoplasm that affects the tonsil. DOID:8858|MESH:D014067|SNOMEDCT:363393007|UMLS:C0751560|NCIT:C7404 http://purl.obolibrary.org/obo/MONDO_0006998 malignant neoplasm of tonsil, faucial|malignant tonsillar neoplasm|cancer of tonsil|malignant neoplasm of faucial tonsil|malignant tumor of tonsil|malignant tumor of the tonsil|tonsil cancer|malignant tonsillar tumor|malignant neoplasm of tonsil|malignant tonsil neoplasm|malignant neoplasm of the tonsil|malignant tonsil tumor|malignant neoplasm of palatine tonsil MONDO:0004335 digestive system disease biolink:Disease mondo ICD9:520-579.99|SCTID:53619000|EFO:0000405|MESH:D005767|NCIT:C2990|COHD:4201745|DOID:77|ICD9:V47.3|ICD10:K92.9 A disease or disorder that involves the digestive system. MESH:D005767|DOID:77|NCIT:C2990|SNOMEDCT:53619000 http://purl.obolibrary.org/obo/MONDO_0004335 gastroenterological system disorder|disease of digestive system|gastrointestinal disease|gastrointestinal system disease|gastrointestinal disorder|gastroenteropathy|digestive system disease or disorder|digestive system disease|stomach or intestinal disorder|gastroenterological system disease|digestive system disorder|disease or disorder of digestive system|alimentary system disease|disorder of digestive system|disorder of digestive system|git disease|digestive disease|gastrointestinal system disorder MONDO:0004334 non-functional pancreatic neuroendocrine tumor biolink:Disease mondo EFO:1000398|Orphanet:506075|MESH:C536126|ICDO:8150/3|NCIT:C45837|DOID:7698|UMLS:C1334977|GARD:0004002 A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. DOID:7698|UMLS:C1334977|MESH:C536126|NCIT:C45837|ORPHA:506075 http://purl.obolibrary.org/obo/MONDO_0004334 non-syndromic pancreatic neuroendocrine tumor|non functioning pancreatic endocrine tumor|non-functioning pancreatic endocrine tumor|inactive pancreatic endocrine tumor|non-syndromic pancreatic NET|non-functioning well differentiated pancreatic endocrine tumor|nonfunctional pancreatic NET|non-functioning well-differentiated NEN of pancreas|non-functioning neuroendocrine tumor of pancreas|non-functioning endocrine pancreatic tumors|nonsyndromic pancreatic endocrine tumor|non-functioning pancreatic NET|non-functioning well-differentiated neuroendocrine neoplasm of pancreas|non-functioning PNET|non-functional pancreatic neuroendocrine tumor|non-functioning well-differentiated pancreatic NEN|non-functioning EPTs|non-functioning well-differentiated pancreatic neuroendocrine neoplasm|non-functioning pancreatic neuroendocrine tumor|nonsyndromic pancreatic neuroendocrine tumor|nonfunctional pancreatic neuroendocrine tumor ordo_disease|gard_rare MONDO:0006999 tooth disease biolink:Disease mondo MESH:D014076|EFO:1001216|UMLS:C0040435|SCTID:234947003|DOID:1091|NCIT:C35077 A disease involving the calcareous tooth. MESH:D014076|NCIT:C35077|SNOMEDCT:234947003|UMLS:C0040435|DOID:1091 http://purl.obolibrary.org/obo/MONDO_0006999 disease of calcareous tooth|disorder of calcareous tooth|disease or disorder of calcareous tooth|calcareous tooth disease|tooth disorder|calcareous tooth disease or disorder|disorder of calcareous tooth|dental disorder MONDO:0006996 thyroid crisis (disease) biolink:Disease mondo DOID:12837|SCTID:29028009|UMLS:C0040127|NCIT:C112836|MESH:D013958|EFO:1001212|ICD9:242.81|ICD9:242.91|ICD10:E05.5|MedDRA:10043705|HP:0011782 Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone. NCIT:C112836|SNOMEDCT:29028009|MESH:D013958|UMLS:C0040127|DOID:12837 http://purl.obolibrary.org/obo/MONDO_0006996 thyroid storm|thyroid crisis|thyrotoxic crisis MONDO:0004337 perianal skin Paget disease biolink:Disease mondo NCIT:C7476|DOID:7708|UMLS:C1332270 Paget disease involving the perianal skin. DOID:7708|UMLS:C1332270|NCIT:C7476 http://purl.obolibrary.org/obo/MONDO_0004337 Paget disease of the anal margin|perianal skin Paget disease|perianal skin Paget's disease|anal margin Paget's disease|perianal skin mammary Paget's disease|Paget's disease of the anal margin MONDO:0006997 tibial neuropathy biolink:Disease mondo DOID:1187|EFO:1001213|SCTID:399076001|UMLS:C0751932|MESH:D020429 Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32) MESH:D020429|SNOMEDCT:399076001|UMLS:C0751932|DOID:1187 http://purl.obolibrary.org/obo/MONDO_0006997 Posterior tibial neuropathy|tibial neuropathy (disorder) [ambiguous] MONDO:0004336 rectal signet ring cell adenocarcinoma biolink:Disease mondo NCIT:C9168|DOID:7707|UMLS:C0279654 An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population. DOID:7707|UMLS:C0279654|NCIT:C9168 http://purl.obolibrary.org/obo/MONDO_0004336 signet Ring cell adenocarcinoma of rectum|rectum signet ring cell carcinoma|signet Ring cell adenocarcinoma of the rectum|rectum signet ring adenocarcinoma|signet Ring adenocarcinoma of rectum|rectal signet Ring cell adenocarcinoma|signet Ring adenocarcinoma of the rectum MONDO:0004331 bladder urachal adenocarcinoma biolink:Disease mondo DOID:7694|ONCOTREE:UA|UMLS:C1511204|NCIT:C39843|GARD:0010186|MESH:C536474 A adenocarcinoma that involves the urachus. NCIT:C39843|DOID:7694|MESH:C536474|UMLS:C1511204 http://purl.obolibrary.org/obo/MONDO_0004331 urachal adenocarcinoma|bladder urachal adenocarcinoma|adenocarcinoma of the urachus|urachus adenocarcinoma gard_rare MONDO:0006994 tarsal tunnel syndrome biolink:Disease mondo COHD:192885|MedDRA:10043121|UMLS:C0039319|MESH:D013641|ICD9:355.5|NCIT:C85183|ICD10:G57.50|GARD:0007733|SCTID:47374004|DOID:12526|ICD10:G57.5|EFO:1001208 Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome. UMLS:C0039319|MESH:D013641|DOID:12526|NCIT:C85183|SNOMEDCT:47374004 http://purl.obolibrary.org/obo/MONDO_0006994 posterior tibial nerve neuralgia|neuropathy of the posterior tibial nerve and its branches gard_rare MONDO:0004330 leptomeningeal sarcoma biolink:Disease mondo NCIT:C8312|DOID:7689|UMLS:C1384416 A sarcoma arising from the leptomeninges. DOID:7689|NCIT:C8312|UMLS:C1384416 http://purl.obolibrary.org/obo/MONDO_0004330 leptomeninx sarcoma|leptomeningeal sarcoma|sarcoma, leptomeningeal, malignant|sarcoma of the leptomeninges|sarcoma of leptomeninges|sarcoma, meningeal|leptomeninges sarcoma|sarcoma of leptomeninx MONDO:0043982 cubital tunnel syndrome biolink:Disease mondo SCTID:56177003|MESH:D020430|EFO:1001363 Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43) SNOMEDCT:56177003|MESH:D020430 http://purl.obolibrary.org/obo/MONDO_0043982 syndrome, cubital tunnel|cubital tunnel syndromes|ulnar nerve compression, cubital tunnel|ulnar nerve entrapment, elbow|cubital tunnel syndrome|tunnel syndrome, cubital|tunnel syndromes, cubital|syndromes, cubital tunnel MONDO:0006995 tethered spinal cord syndrome biolink:Disease mondo ICD9:741|ICD9:756.19|DOID:1089|ICD10:Q05|SCTID:249491000119100|EFO:1001210|NCIT:C99080|ICD10:Q05.9 A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. SNOMEDCT:249491000119100|NCIT:C99080|DOID:1089 http://purl.obolibrary.org/obo/MONDO_0006995 spinal dysraphism|spinal cord syndrome|tethered cord MONDO:0043985 central nervous system lupus biolink:Disease mondo EFO:1001453|NCIT:C116919|MESH:D020945 Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. MESH:D020945|NCIT:C116919 http://purl.obolibrary.org/obo/MONDO_0043985 CNS lupus|central nervous system systemic lupus Erythematosis|central nervous system lupus|Meningoencephalitides, lupus|neuropsychiatric systemic lupus erythematosus|meningoencephalitis, lupus|lupus meningoencephalitis|central nervous system lupus vasculitis|lupus Meningoencephalitides|systemic lupus Erythematosis, central nervous system MONDO:0006992 syphilitic aortitis biolink:Disease mondo EFO:1001206|UMLS:C0003511|MedDRA:10042900|ICD9:093.1|SCTID:20735004|ICD10:A52.02 Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm. UMLS:C0003511|SNOMEDCT:20735004 http://purl.obolibrary.org/obo/MONDO_0006992 MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor biolink:Disease mondo NCIT:C27466|UMLS:C1335300|ICDO:8158/1|DOID:7697 A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor. UMLS:C1335300|DOID:7697|NCIT:C27466 http://purl.obolibrary.org/obo/MONDO_0004333 pancreatic ACTH producing tumor|pancreatic ACTH producing NET|pancreatic adrenocorticotropic hormone producing tumor|pancreatic ACTH producing neuroendocrine tumor|pancreatic ACTH-producing neuroendocrine tumor|pancreatic ACTH hormone producing tumor MONDO:0004332 lung hilum cancer biolink:Disease mondo NCIT:C4566|UMLS:C2607931|UMLS:C0346601|SCTID:93827000|DOID:7696 A malignant neoplasm involving the lung hilus. SNOMEDCT:93827000|NCIT:C4566|DOID:7696|UMLS:C0346601|UMLS:C2607931 http://purl.obolibrary.org/obo/MONDO_0004332 malignant hilar lung neoplasm|primary malignant neoplasm of hilus of lung|malignant neoplasm of lung hilus|malignant lung hilus neoplasm|malignant tumor of the lung hilum|malignant hilar lung tumor|malignant neoplasm of lung hilum|malignant tumor of lung hilum|cancer of lung hilus|malignant lung hilum tumor|malignant neoplasm of the lung hilum|malignant lung hilum neoplasm|lung hilus cancer MONDO:0006993 systolic heart failure biolink:Disease mondo EFO:1001207|COHD:443580|UMLS:C1135191|ICD9:428.20|ICD9:428.2|DOID:9651|SCTID:417996009|MedDRA:10074631|ICD10:I50.20|ICD10:I50.2|MESH:D054143 Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying. UMLS:C1135191|MESH:D054143|SNOMEDCT:417996009|DOID:9651 http://purl.obolibrary.org/obo/MONDO_0006993 MONDO:0006990 suppurative uveitis biolink:Disease mondo MESH:D015829|EFO:1001203|UMLS:C0042168|DOID:13140 Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia. MESH:D015829|UMLS:C0042168|DOID:13140 http://purl.obolibrary.org/obo/MONDO_0006990 MONDO:0006991 obsolete sympathetic ophthalmia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006991 MONDO:0016328 fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy biolink:Disease mondo UMLS:CN226902|Orphanet:217591 ORPHA:217591|UMLS:CN226902 http://purl.obolibrary.org/obo/MONDO_0016328 ordo_group_of_disorders MONDO:0016329 familial syndrome associated with hypertrophic cardiomyopathy biolink:Disease mondo UMLS:CN201161|Orphanet:217595 ORPHA:217595|UMLS:CN201161 http://purl.obolibrary.org/obo/MONDO_0016329 syndrome associated with hypertrophic cardiomyopathy ordo_group_of_disorders MONDO:0018987 granulomatous mastitis biolink:Disease mondo GARD:0013119|UMLS:C0405469|Orphanet:64722|MESH:D058890|ICD10:N61|SCTID:237444008 A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives. ORPHA:64722|MESH:D058890|UMLS:C0405469|SNOMEDCT:237444008 http://purl.obolibrary.org/obo/MONDO_0018987 granulomatous lobular mastitis|idiopathic granulomatous lobular mastitis|idiopathic granulomatous mastitis ordo_disease MONDO:0016324 obsolete hypertrophic cardiomyopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016324 MONDO:0043975 autonomic dysreflexia biolink:Disease mondo SCTID:129618003|MESH:D020211|EFO:1001762|UMLS:C0238015 A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60) MESH:D020211|UMLS:C0238015|SNOMEDCT:129618003 http://purl.obolibrary.org/obo/MONDO_0043975 autonomic Hyperreflexias|dysreflexia|autonomic Dysreflexias, spinal|autonomic Dysreflexia, spinal|autonomic Dysreflexias|Dysreflexia, spinal autonomic|Dysreflexias, spinal autonomic|autonomic dysreflexia|autonomic hyperreflexia|spinal autonomic Dysreflexia|hyperreflexia, autonomic|Dysreflexias, autonomic|Dysreflexia, autonomic|hyperreflexias, autonomic|spinal autonomic Dysreflexias MONDO:0016325 glycogen storage disease with hypertrophic cardiomyopathy biolink:Disease mondo Orphanet:217572|UMLS:CN201158|ICD10:E74.0 ORPHA:217572|UMLS:CN201158 http://purl.obolibrary.org/obo/MONDO_0016325 GSD with hypertrophic cardiomyopathy|glycogenosis with hypertrophic cardiomyopathy ordo_group_of_disorders MONDO:0018986 obsolete leiomyosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018986 MONDO:0018989 recurrent acute pancreatitis biolink:Disease mondo MedDRA:10033657|ICD10:K85.2|ICD10:K85.1|ICD10:K85.0|ICD10:K85.9|UMLS:C0267937|SCTID:197458008|ICD10:K85.8|Orphanet:64740|ICD10:K85.3 Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems. ORPHA:64740|UMLS:C0267937|SNOMEDCT:197458008|MEDDRA:10033657 http://purl.obolibrary.org/obo/MONDO_0018989 ordo_disease MONDO:0016326 lysosomal disease with hypertrophic cardiomyopathy biolink:Disease mondo Orphanet:217581|UMLS:CN201159 ORPHA:217581|UMLS:CN201159 http://purl.obolibrary.org/obo/MONDO_0016326 ordo_group_of_disorders MONDO:0016327 mitochondrial disease with hypertrophic cardiomyopathy biolink:Disease mondo Orphanet:217587|UMLS:CN201160 ORPHA:217587|UMLS:CN201160 http://purl.obolibrary.org/obo/MONDO_0016327 ordo_group_of_disorders MONDO:0018988 iridocorneal endothelial syndrome biolink:Disease mondo GARD:0000060|NCIT:C84792|SCTID:129623003|UMLS:CN205427|UMLS:C1096100|Orphanet:64734|MESH:D057129|ICD10:H21.1|MedDRA:10053678 Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications NCIT:C84792|ORPHA:64734|MESH:D057129|MEDDRA:10053678|UMLS:C0339285|SNOMEDCT:129623003|UMLS:C1096100|UMLS:CN205427 http://purl.obolibrary.org/obo/MONDO_0018988 ICE syndrome gard_rare|ordo_disease MONDO:0018983 tolosa-Hunt syndrome biolink:Disease mondo NCIT:C85193|UMLS:C0392060|DOID:1278|Orphanet:64686|MedDRA:10051526|GARD:0007777|MESH:D020333|UMLS:C0040381|UMLS:CN205421|ICD10:H49.8|SCTID:95794005 Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others. ORPHA:64686|MESH:C531833|SNOMEDCT:95794005|MEDDRA:10051526|UMLS:C0040381|NCIT:C85193|DOID:1278|UMLS:CN205421|UMLS:C0392060|MESH:D020333 http://purl.obolibrary.org/obo/MONDO_0018983 nonspecific inflammation of the cavernous sinus or superior orbital fissure|tolosa Hunt syndrome|THS|painful ophthalmoplegia|tolosa-Hunt syndrome ordo_disease|gard_rare MONDO:0016320 rare hereditary thrombophilia biolink:Disease mondo ICD10:D68.5|UMLS:C2584620|Orphanet:217454 UMLS:C2584620|ORPHA:217454 http://purl.obolibrary.org/obo/MONDO_0016320 obsoletion_candidate|ordo_group_of_disorders MONDO:0016321 pulmonary interstitial glycogenosis biolink:Disease mondo ICD10:J84.842|ICD10:P22.8|SCTID:707551007|UMLS:C3161106|Orphanet:217557 Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD). SNOMEDCT:707551007|UMLS:C3161106|ORPHA:217557 http://purl.obolibrary.org/obo/MONDO_0016321 infantile cellular interstitial pneumonitis|pig ordo_disease MONDO:0018982 Niemann-Pick disease type C biolink:Disease mondo SCTID:66751000|Orphanet:646|MESH:D052556|ICD10:E75.2 NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. ORPHA:646|SNOMEDCT:66751000|MESH:D052556|UMLS:C0220756 http://purl.obolibrary.org/obo/MONDO_0018982 NPC ordo_disease MONDO:0016322 neuroendocrine cell hyperplasia of infancy biolink:Disease mondo NCIT:C120169|ICD10:J84.841|Orphanet:217560|UMLS:C3161105|SCTID:707435002 Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure. ORPHA:217560|NCIT:C120169|SNOMEDCT:707435002|UMLS:C3161105 http://purl.obolibrary.org/obo/MONDO_0016322 NEHI|NCHI ordo_disease NCBITaxon:33511 Deuterostomia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33511 deuterostomes MONDO:0018985 obsolete trench fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018985 MONDO:0018984 Oroya fever biolink:Disease mondo SCTID:262461007|UMLS:C0029307|ICD10:A44.0|UMLS:CN205422|DOID:0050398|SCTID:240453002|NCIT:C128441|Orphanet:64692 An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise. UMLS:C0348974|SNOMEDCT:240453002|ORPHA:64692|SNOMEDCT:262461007|NCIT:C128441|DOID:0050398|UMLS:CN205422|UMLS:C0029307 http://purl.obolibrary.org/obo/MONDO_0018984 Oroya fever|Bartonella bacilliformis disease or disorder|Bartonella bacilliformis infectious disease|Bartonella bacilliformis caused disease or disorder|Carrion's disease|bartonellosis due to Bartonella bacilliformis infection|Carrión disease|Carrion disease ordo_disease MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency biolink:Disease mondo ICD10:J84.8|Orphanet:217566 ORPHA:217566 http://purl.obolibrary.org/obo/MONDO_0016323 ordo_disease MONDO:0018981 benign idiopathic neonatal seizures biolink:Disease mondo UMLS:CN205419|ICD10:G40.4|Orphanet:64545 UMLS:CN205419|ORPHA:64545 http://purl.obolibrary.org/obo/MONDO_0018981 BINS|benign nonfamilial neonatal seizures ordo_disease MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type biolink:Disease mondo SCTID:720427009|UMLS:CN205418|Orphanet:64542|ICD10:Q75.4 Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. UMLS:CN205418|ORPHA:64542|SNOMEDCT:720427009 http://purl.obolibrary.org/obo/MONDO_0018980 Kennedy-Teebi syndrome ordo_malformation_syndrome MONDO:0004349 retina lymphoma biolink:Disease mondo DOID:774|ICD9:198.4|SCTID:232075002|NCIT:C4365|UMLS:C0339556 A lymphoma that involves the retina. NCIT:C4365|DOID:774|UMLS:C0339556|SNOMEDCT:232075002 http://purl.obolibrary.org/obo/MONDO_0004349 lymphoma of retina|lymphoma of the retina|retina lymphoma|primary retinal lymphoma|retinal lymphoma HGNC:26006 TTC19 biolink:OntologyClass mondo http://identifiers.org/hgnc/26006 MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma biolink:Disease mondo NCIT:C41619|UMLS:C1519321|DOID:7733 An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells. NCIT:C41619|DOID:7733|UMLS:C1519321 http://purl.obolibrary.org/obo/MONDO_0004346 signet Ring cell intrahepatic cholangiocarcinoma MONDO:0004345 childhood malignant schwannoma biolink:Disease mondo UMLS:C0279987|DOID:7732|NCIT:C8094 A malignant peripheral nerve sheath tumor occurring in children. DOID:7732|NCIT:C8094|UMLS:C0279987 http://purl.obolibrary.org/obo/MONDO_0004345 childhood malignant tumor of the peripheral nerve sheath|childhood malignant peripheral nerve sheath neoplasm|childhood malignant tumor of peripheral nerve sheath|childhood malignant neurilemmoma|pediatric malignant neoplasm of the peripheral nerve sheath|malignant peripheral nerve sheath tumor|pediatric malignant neoplasm of peripheral nerve sheath|pediatric malignant peripheral nerve sheath tumor|childhood neurofibrosarcoma|childhood neurogenic sarcoma|childhood malignant schwannoma|pediatric malignant peripheral nerve sheath neoplasm|pediatric malignant tumor of the peripheral nerve sheath|pediatric malignant tumor of peripheral nerve sheath|childhood malignant neoplasm of the peripheral nerve sheath|pediatric MPNST|pediatric malignant neurilemmoma|childhood malignant neoplasm of peripheral nerve sheath|childhood malignant peripheral nerve sheath tumor|childhood MPNST|pediatric malignant schwannoma MONDO:0004348 retinal telangiectasia biolink:Disease mondo SCTID:84884003|HP:0007763|UMLS:C0154835|DOID:7736|ICD9:362.15 SNOMEDCT:84884003|UMLS:C0154835|DOID:7736 http://purl.obolibrary.org/obo/MONDO_0004348 MONDO:0004347 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004347 MONDO:0043994 acute cholecystitis biolink:Disease mondo MESH:D041881|SCTID:65275009|NCIT:C35152 Acute inflammation of the gallbladder. NCIT:C35152|MESH:D041881|SNOMEDCT:65275009 http://purl.obolibrary.org/obo/MONDO_0043994 acute cholecystitis MONDO:0004342 obsolete osteoclast-like giant cell neoplasm of the pancreas biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004342 MONDO:0004341 colloid carcinoma of the pancreas biolink:Disease mondo DOID:7717|NCIT:C37214|UMLS:C1333081 An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei. UMLS:C1333081|DOID:7717|NCIT:C37214 http://purl.obolibrary.org/obo/MONDO_0004341 mucinous Noncystic carcinoma|pancreatic mucinous Noncystic carcinoma|colloid carcinoma of the pancreas MONDO:0004344 childhood malignant hemangiopericytoma biolink:Disease mondo NCIT:C8090|UMLS:C0279983|DOID:7731 A malignant hemangiopericytoma occurring in childhood. DOID:7731|NCIT:C8090|UMLS:C0279983 http://purl.obolibrary.org/obo/MONDO_0004344 malignant childhood hemangiopericytoma|malignant hemangiopericytoma|malignant pediatric hemangiopericytoma MONDO:0004343 pancreatic acinar cell cystadenocarcinoma biolink:Disease mondo DOID:7729|NCIT:C5727|ICDO:8551/3|UMLS:C1266087 A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course. DOID:7729|UMLS:C1266087|NCIT:C5727 http://purl.obolibrary.org/obo/MONDO_0004343 acinar cell cystadenocarcinoma (morphologic abnormality)|acinar cell cystadenocarcinoma|acinar cell cystadenocarcinoma of pancreas|acinar cell cystadenocarcinoma of the pancreas|pancreatic acinar cell cystadenocarcinoma MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas biolink:Disease mondo UMLS:C1301048|DOID:7716|NCIT:C6879 A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites. DOID:7716|UMLS:C1301048|NCIT:C6879 http://purl.obolibrary.org/obo/MONDO_0004340 mixed ductal-endocrine carcinoma|mixed ductal-neuroendocrine carcinoma of the pancreas|mixed ductal-endocrine carcinoma of the pancreas MONDO:0016317 limbic encephalitis with NMDA receptor antibodies biolink:Disease mondo UMLS:C4274344|Orphanet:217253|ICD10:G13.1|UMLS:CN201135|SCTID:716684004 Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens. ORPHA:217253|UMLS:C4274344|SNOMEDCT:716684004|UMLS:CN201135 http://purl.obolibrary.org/obo/MONDO_0016317 limbic encephalitis with N-methyl-D-aspartate receptor antibodies ordo_disease MONDO:0016318 progressive multifocal leukoencephalopathy biolink:Disease mondo MESH:D007968|DOID:643|EFO:0007455|ICD10:A81.2|SCTID:22255007|GARD:0007468|NCIT:C26815|COHD:433957|ICD9:046.3|Orphanet:217260|UMLS:C0023524|MedDRA:10036807 Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS). UMLS:C0023524|MESH:D007968|SNOMEDCT:22255007|ORPHA:217260|NCIT:C26815|MEDDRA:10036807|DOID:643 http://purl.obolibrary.org/obo/MONDO_0016318 PML|leukoencephalopathy, progressive multifocal|progressive multifocal leukoencephalitis gard_rare|ordo_disease MONDO:0018979 multifocal motor neuropathy biolink:Disease mondo Orphanet:641|SCTID:230591002|ICD10:G61.82|ICD9:357.89|UMLS:C0393847|ICD10:G61.8|GARD:0011011 Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping. UMLS:C0393847|ORPHA:641|SNOMEDCT:230591002 http://purl.obolibrary.org/obo/MONDO_0018979 MMN|MMNCB|multifocal motor neuropathy with conduction block ordo_disease|gard_rare MONDO:0016319 congenital insensitivity to pain with hyperhidrosis biolink:Disease mondo Orphanet:217399|ICD10:G90.8 ORPHA:217399 http://purl.obolibrary.org/obo/MONDO_0016319 congenital analgesia with hyperhidrosis|congenital indifference to pain with hyperhidrosis|congenital absence of pain with hyperhidrosis ordo_disease MONDO:0018976 schisis association biolink:Disease mondo ICD10:Q87.8|MESH:C536633|SCTID:718095000|GARD:0000246|Orphanet:63862|UMLS:C2931271 Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates. UMLS:C2931271|SNOMEDCT:718095000|ORPHA:63862|MESH:C536633 http://purl.obolibrary.org/obo/MONDO_0018976 Midline development field defects gard_rare|ordo_malformation_syndrome MONDO:0016313 obsolete renal cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016313 MONDO:0016314 obsolete rare carcinoma of pancreas biolink:Disease mondo Orphanet:217074|UMLS:CN201130 Rare pancreatic carcinoma. ORPHA:217074|UMLS:CN201130 http://purl.obolibrary.org/obo/MONDO_0016314 rare exocrine pancreatic carcinoma|rare pancreatic carcinoma obsoletion_candidate|ordo_group_of_disorders MONDO:0018975 neurofibromatosis type 1 biolink:Disease mondo OMIM:162200|GARD:0007866|COHD:377252|UMLS:C0027831|SCTID:92824003|MedDRA:10047712|NCIT:C3273|ICD10:Q85.0|MESH:D009456|ICD9:237.71|Orphanet:636 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. NCIT:C3273|UMLS:C0027831|SNOMEDCT:92824003|MESH:C538607|MESH:D009456|ORPHA:636|MEDDRA:10047712|http://identifiers.org/omim/162200 http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis, type 1|peripheral neurofibromatosis|Von Recklinghausen disease|Recklinghausen's disease|type 1 neurofibromatosis|NF1|neurofibromatosis, type I; NF1|neurofibromatosis type 1 microdeletion syndrome|neurofibromatosis, type I|neurofibromatosis, peripheral type|von Reklinghausen disease|neurofibromatosis type 1|neurofibromatosis 1|neurofibromatosis ordo_disease MONDO:0016315 mucopolysaccharidosis type 2, severe form biolink:Disease mondo ICD10:E76.1|SCTID:73146005|Orphanet:217085|UMLS:CN201131 Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. ORPHA:217085|UMLS:CN201131|SNOMEDCT:73146005 http://purl.obolibrary.org/obo/MONDO_0016315 Hunter syndrome type A|mucopolysaccharidosis type 2A|MPSIIA|MPS2A|mucopolysaccharidosis type IIA|iduronate 2-sulfatase deficiency type A|mucopolysaccharidosis type II, severe form ordo_clinical_subtype MONDO:0018978 IgG4-related mediastinitis biolink:Disease mondo MedDRA:10027074|Orphanet:63999|GARD:0008337|MESH:C536136|ICD10:J98.5 ORPHA:63999|MESH:C536136|UMLS:C0264573|UMLS:C0221386|MEDDRA:10027074 http://purl.obolibrary.org/obo/MONDO_0018978 idiopathic mediastinal fibrosis|mediastinal fibrosis|fibrosing mediastinitis|sclerosing mediastinitis ordo_disease MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG biolink:Disease mondo Orphanet:639|UMLS:C1736154|ICD10:G61.8 Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait. UMLS:C1736154|ORPHA:639 http://purl.obolibrary.org/obo/MONDO_0018977 anti-MAG neuropathy|neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein ordo_disease MONDO:0016316 mucopolysaccharidosis type 2, attenuated form biolink:Disease mondo ICD10:E76.1|Orphanet:217093|UMLS:CN201132 Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline. ORPHA:217093|UMLS:CN201132 http://purl.obolibrary.org/obo/MONDO_0016316 Hunter syndrome type B|mucopolysaccharidosis type 2B|mucopolysaccharidosis type II, attenuated form|mucopolysaccharidosis type IIB|iduronate 2-sulfatase deficiency type B|MPSIIB|MPS2B ordo_clinical_subtype MONDO:0043988 zoster sine herpete biolink:Disease mondo EFO:1001827|SCTID:449783002|MESH:D031368|UMLS:C1135841 Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult. SNOMEDCT:449783002|MESH:D031368|UMLS:C1135841 http://purl.obolibrary.org/obo/MONDO_0043988 zoster sine herpete|Zoster sine Eruptione MONDO:0018972 rare epithelial tumor of stomach biolink:Disease mondo MedDRA:10017758|Orphanet:63443|UMLS:CN235187 ORPHA:63443|MEDDRA:10017758|UMLS:CN235187 http://purl.obolibrary.org/obo/MONDO_0018972 rare gastric epithelial tumor obsoletion_candidate|ordo_group_of_disorders MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset biolink:Disease mondo UMLS:CN201116|Orphanet:216986|ICD10:E75.2 UMLS:CN201116|ORPHA:216986 http://purl.obolibrary.org/obo/MONDO_0016310 ordo_clinical_subtype MONDO:0018971 isolated oxycephaly biolink:Disease mondo ICD10:Q75.0|Orphanet:63440|SCTID:48069004 Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull. ORPHA:63440|SNOMEDCT:48069004 http://purl.obolibrary.org/obo/MONDO_0018971 acrocephaly|pyrgocephaly|hypsicephaly|turricephaly|hypsocephaly ordo_morphological_anomaly HGNC:14024 PRY biolink:OntologyClass mondo http://identifiers.org/hgnc/14024 HGNC:14025 SLC5A7 biolink:OntologyClass mondo http://identifiers.org/hgnc/14025 MONDO:0018974 paraneoplastic pemphigus biolink:Disease mondo ICD10:L10.81|UMLS:C1112570|MedDRA:10057056|Orphanet:63455|ICD10:L10.8|EFO:0008602 Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. UMLS:C1112570|ORPHA:63455|MEDDRA:10057056 http://purl.obolibrary.org/obo/MONDO_0018974 ordo_disease MONDO:0016311 Bockenheimer syndrome biolink:Disease mondo UMLS:CN201119|ICD10:Q27.4|Orphanet:217008|GARD:0013063 UMLS:CN201119|ORPHA:217008 http://purl.obolibrary.org/obo/MONDO_0016311 genuine diffuse phlebectasia ordo_malformation_syndrome MONDO:0018973 patterned dystrophy of the retinal pigment epithelium biolink:Disease mondo MESH:C536309|ICD10:H35.5|UMLS:C1868569|Orphanet:63454|GARD:0009821 ORPHA:63454|MESH:C536309|UMLS:C1868569 http://purl.obolibrary.org/obo/MONDO_0018973 ordo_group_of_disorders MONDO:0016312 5-fluorouracil poisoning biolink:Disease mondo ICD10:T45.1|UMLS:CN201128|MESH:C531667|Orphanet:217064 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men. MESH:C531667|UMLS:CN201128|ORPHA:217064 http://purl.obolibrary.org/obo/MONDO_0016312 5-fluorouracil intoxication ordo_clinical_situation MONDO:0018970 obsolete pemphigoid gestationis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018970 MONDO:0016380 acquired hypertrichosis lanuginosa biolink:Disease mondo Orphanet:2221|UMLS:CN201274|SCTID:25967007|GARD:0002864|ICD10:L68.1 Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary. SNOMEDCT:25967007|ORPHA:2221|UMLS:CN201274 http://purl.obolibrary.org/obo/MONDO_0016380 hypertrichosis lanuginosa, acquired ordo_disease|gard_rare MONDO:0016381 hypertrichosis lanuginosa congenita biolink:Disease mondo GARD:0002865|SCTID:201163007|OMIM:145700|ICD10:Q84.2|Orphanet:2222|MESH:C538389 Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes. http://identifiers.org/omim/145700|SNOMEDCT:201163007|ORPHA:2222|MESH:C538389|UMLS:C0235864 http://purl.obolibrary.org/obo/MONDO_0016381 hypertrichosis universalis|hypertrichosis lanuginosa congenita|hypertrichosis lanuginosa universalis|congenital hypertrichosis lanuginosa ordo_disease HGNC:28636 B9D2 biolink:OntologyClass mondo http://identifiers.org/hgnc/28636 MONDO:0004397 benign mediastinal psammomatous neurilemmoma biolink:Disease mondo DOID:7921|UMLS:C1332513|NCIT:C6636 A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies. NCIT:C6636|DOID:7921|UMLS:C1332513 http://purl.obolibrary.org/obo/MONDO_0004397 benign psammomatous schwannoma of the mediastinum|benign psammomatous schwannoma of mediastinum|benign psammomatous neurilemmoma of the mediastinum|benign mediastinal psammomatous schwannoma|benign psammomatous neurilemmoma of mediastinum MONDO:0004396 cervical spinal canal and spinal cord meningioma biolink:Disease mondo UMLS:C1332916|NCIT:C5296|DOID:7915 A meningioma that arises from the meninges of the cervical region of the spinal cord. NCIT:C5296|DOID:7915|UMLS:C1332916 http://purl.obolibrary.org/obo/MONDO_0004396 cervical intraspinal meningioma|meningioma of the cervical spinal canal and spinal cord|meningioma of cervical spinal canal and spinal cord MONDO:0004399 obsolete epithelial malignant thymoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004399 MONDO:0004398 mediastinal schwannoma biolink:Disease mondo DOID:7922|NCIT:C6643|UMLS:C1334679|DOID:6175 A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative. NCIT:C6643|NCIT:C6625|UMLS:C1334679|DOID:6175|DOID:7922 http://purl.obolibrary.org/obo/MONDO_0004398 neurilemmoma of the mediastinum|neurilemmoma of mediastinum|mediastinal neurilemmoma|benign schwannoma of the mediastinum|mediastinal schwannoma|benign mediastinal neurilemmoma|benign neurilemmoma of the mediastinum|benign schwannoma of mediastinum|schwannoma of the mediastinum|benign neurilemmoma of mediastinum|mediastinum schwannoma|schwannoma of mediastinum|benign mediastinal schwannoma MONDO:0004393 mixed astrocytoma-ependymoma biolink:Disease mondo DOID:7907|UMLS:C0280791|NCIT:C8271 A tumor of mixed cell type with astrocytic components as well as ependymoma components. UMLS:C0280791|DOID:7907|NCIT:C8271 http://purl.obolibrary.org/obo/MONDO_0004393 mixed astrocytoma-ependymoma MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma biolink:Disease mondo NCIT:C5462|DOID:7903|UMLS:C1334238 An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium. NCIT:C5462|UMLS:C1334238|DOID:7903 http://purl.obolibrary.org/obo/MONDO_0004392 intracranial extraskeletal myxoid chondrosarcoma|intracranial chondrosarcoma MONDO:0004395 obsolete mixed oligodendroglioma-astrocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004395 MONDO:0004394 maxillary sinus squamous cell carcinoma biolink:Disease mondo SCTID:707354003|UMLS:C1334647|NCIT:C6064|DOID:7910 A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. NCIT:C6064|SNOMEDCT:707354003|UMLS:C1334647|DOID:7910 http://purl.obolibrary.org/obo/MONDO_0004394 squamous cell carcinoma of the maxillofacial sinus|squamous cell carcinoma of maxillofacial sinus|squamous cell carcinoma of the maxillary sinus|squamous cell carcinoma of maxillary sinus|epidermoid carcinoma of maxillary antrum|maxillary antrum squamous cell carcinoma|epidermoid carcinoma of the maxillary antrum|maxillary sinus epidermoid carcinoma|epidermoid carcinoma of maxillofacial sinus|maxillofacial sinus squamous cell carcinoma|maxillofacial sinus epidermoid carcinoma|epidermoid carcinoma of the maxillofacial sinus|maxillary sinus squamous cell carcinoma|epidermoid carcinoma of the maxillary sinus|epidermoid carcinoma of maxillary sinus|squamous cell carcinoma of maxillary antrum|maxillary antrum epidermoid carcinoma|squamous cell carcinoma of the maxillary antrum MONDO:0004391 obsolete adult extraosseous chondrosarcoma biolink:Disease mondo DOID:7902 A extraosseous chondrosarcoma that occurs in an adult. DOID:7902 http://purl.obolibrary.org/obo/MONDO_0004391 extraosseous chondrosarcoma of adults MONDO:0004390 ocular hypotension biolink:Disease mondo ICD10:H44.40|UMLS:C0028841|SCTID:19721008|ICD9:360.30|ICD10:H44.4|DOID:790|COHD:376107|MESH:D015814|ICD9:360.3 Abnormally low intraocular pressure often related to chronic inflammation (uveitis). UMLS:C0028841|MESH:D015814|DOID:790|SNOMEDCT:19721008 http://purl.obolibrary.org/obo/MONDO_0004390 hypotony of eye GO:0033280 response to vitamin D biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. http://purl.obolibrary.org/obo/GO_0033280 response to calciferol|response to cholecalciferol|response to ergocalciferol HP:0005445 Enlarged posterior fossa biolink:PhenotypicFeature mondo UMLS:C1855889 Abnormal increased size of the posterior cranial fossa. http://purl.obolibrary.org/obo/HP_0005445 Widened posterior fossa MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome biolink:Disease mondo UMLS:C2931722|MESH:C538075|Orphanet:2235 This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. UMLS:C2931722|MESH:C538075|ORPHA:2235 http://purl.obolibrary.org/obo/MONDO_0016386 Chang-Davidson-Carlson syndrome ordo_disease MONDO:0016387 mitochondrial oxidative phosphorylation disorder biolink:Disease mondo UMLS:CN201288|Orphanet:223713 ORPHA:223713|UMLS:CN201288 http://purl.obolibrary.org/obo/MONDO_0016387 OXPHOS disease|OXPHOS system deficiency ordo_group_of_disorders MONDO:0016388 obsolete bone sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016388 MONDO:0016389 obsolete lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016389 MONDO:0016382 hereditary poikiloderma biolink:Disease mondo Orphanet:222628 ORPHA:222628 http://purl.obolibrary.org/obo/MONDO_0016382 ordo_group_of_disorders MONDO:0016383 nephrogenic diabetes insipidus biolink:Disease mondo GARD:0007178|MESH:D018500|Orphanet:223|DOID:12387|ICD9:588.1|COHD:438476|SCTID:111395007|ICD10:N25.1|NCIT:C84919|MedDRA:10029147|UMLS:C0162283 Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. DOID:12387|MESH:D018500|NCIT:C84919|SNOMEDCT:111395007|UMLS:C0162283|ORPHA:223|MEDDRA:10029147 http://purl.obolibrary.org/obo/MONDO_0016383 diabetes insipidus nephrogenic type 1|vasopressin-resistant diabetes insipidus|ADH resistant diabetes insipidus|diabetes insipidus nephrogenic|diabetes insipidus nephrogenic X-linked ordo_disease MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome biolink:Disease mondo Orphanet:2230|SCTID:721842008|UMLS:CN201280|ICD10:E23.0 This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. SNOMEDCT:721842008|ORPHA:2230|UMLS:CN201280 http://purl.obolibrary.org/obo/MONDO_0016384 Salti-Salem syndrome ordo_disease MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome biolink:Disease mondo Orphanet:2233|GARD:0001078|MESH:C537981|UMLS:C2931685|SCTID:721841001|ICD10:Q87.8 This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. SNOMEDCT:721841001|UMLS:C2931685|ORPHA:2233|MESH:C537981 http://purl.obolibrary.org/obo/MONDO_0016385 Cantalamessa-Baldini-Ambrosi syndrome|primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability|primary gonadal failure, short stature, mitral valve prolapse, and mental retardation|Cantalamessa Baldini Ambrosi syndrome ordo_disease|gard_rare HGNC:16650 MRPL44 biolink:OntologyClass mondo http://identifiers.org/hgnc/16650 MONDO:0043919 radiation pneumonitis biolink:Disease mondo EFO:0008517|MESH:D017564|SCTID:84004001 Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation. MESH:D017564|SNOMEDCT:84004001 http://purl.obolibrary.org/obo/MONDO_0043919 Pneumonias, radiation|radiation fibrosis|radiation Pneumonias|fibrosis, radiation|radiation pneumonitis|Pneumonitides, radiation|pneumonitis, radiation|pulmonary radiation alveolitis|radiation pneumonia|pneumonia, radiation|radiation Pneumonitides MONDO:0016370 Marchiafava-Bignami disease biolink:Disease mondo ICD10:G37.1|MedDRA:10026828|ICD9:341.8|Orphanet:221074|GARD:0006971|NCIT:C97045|MESH:D054319|UMLS:C0238265|SCTID:386766007|EFO:1001809 Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism. NCIT:C97045|ORPHA:221074|MEDDRA:10026828|UMLS:C0238265|SNOMEDCT:386766007|MESH:D054319 http://purl.obolibrary.org/obo/MONDO_0016370 acute Marchiafava-Bignami disease|metabolic bone disorder|metabolic bone disease|MBD|chronic Marchiafava-Bignami syndrome|Marchiafava Bignami disease ordo_disease|gard_rare UBERON:3010200 vasculature of respiratory integument biolink:AnatomicalEntity mondo Blood vessels in respiratory skin. http://purl.obolibrary.org/obo/UBERON_3010200 HGNC:28648 DIS3L2 biolink:OntologyClass mondo http://identifiers.org/hgnc/28648 GO:0033273 response to vitamin biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. http://purl.obolibrary.org/obo/GO_0033273 MONDO:0016379 erosive pustular dermatosis of the scalp biolink:Disease mondo SCTID:238733003|UMLS:C0406464|GARD:0002188|Orphanet:222 70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia. ORPHA:222|SNOMEDCT:238733003|UMLS:C0406464 http://purl.obolibrary.org/obo/MONDO_0016379 ordo_disease|gard_rare MONDO:0043923 lichen planus, oral biolink:Disease mondo NCIT:C7406|SCTID:235049008|EFO:1001415|UMLS:C0206139|MESH:D017676 A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral. UMLS:C0206139|SNOMEDCT:235049008|NCIT:C7406|MESH:D017676 http://purl.obolibrary.org/obo/MONDO_0043923 olp - oral lichen planus|oral lichen planus MONDO:0016375 acquired peripheral movement disorder biolink:Disease mondo Orphanet:221114|UMLS:CN226913 UMLS:CN226913|ORPHA:221114 http://purl.obolibrary.org/obo/MONDO_0016375 ordo_group_of_disorders MONDO:0016376 confetti-like macular atrophy biolink:Disease mondo Orphanet:221142|ICD10:L90.8 ORPHA:221142 http://purl.obolibrary.org/obo/MONDO_0016376 ordo_disease MONDO:0016377 Pitt-Hopkins-like syndrome biolink:Disease mondo UMLS:CN239445|Orphanet:221150|GARD:0011967 Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. ORPHA:221150|UMLS:CN239445 http://purl.obolibrary.org/obo/MONDO_0016377 PTHSL ordo_disease|gard_rare MONDO:0016378 maternal hyperthermia induced birth defects biolink:Disease mondo SCTID:765138001|UMLS:C0265377|Orphanet:2216|ICD10:Q86.8|GARD:0002856 Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached. UMLS:C0265377|SNOMEDCT:765138001|ORPHA:2216 http://purl.obolibrary.org/obo/MONDO_0016378 hyperthermia induced defects ordo_malformation_syndrome|gard_rare HGNC:14004 ANO3 biolink:OntologyClass mondo http://identifiers.org/hgnc/14004 MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves biolink:Disease mondo Orphanet:221078|UMLS:CN201241 ORPHA:221078|UMLS:CN201241 http://purl.obolibrary.org/obo/MONDO_0016371 ordo_disease MONDO:0016372 glossopharyngeal neuralgia biolink:Disease mondo ICD10:G52.1|Orphanet:221098|DOID:14423|UMLS:C0154731|SCTID:43763009|MedDRA:10018391|GARD:0006519|COHD:380100|ICD9:352.1 Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases. ORPHA:221098|SNOMEDCT:43763009|UMLS:C0154731|MEDDRA:10018391|DOID:14423 http://purl.obolibrary.org/obo/MONDO_0016372 glossopharyngeal nerve neuralgia|Glossovasopharyngeal neuralgia|glossopharyngeal neuralgia|neuralgia of glossopharyngeal nerve gard_rare|ordo_disease MONDO:0016373 isolated facial myokymia biolink:Disease mondo ICD10:G51.4|Orphanet:221106 ORPHA:221106 http://purl.obolibrary.org/obo/MONDO_0016373 ordo_disease MONDO:0016374 cranial neuralgia biolink:Disease mondo UMLS:C0010269|Orphanet:221109|SCTID:23096007 A neuralgia that involves the cranial neuron projection bundle. UMLS:C0010269|ORPHA:221109|SNOMEDCT:23096007 http://purl.obolibrary.org/obo/MONDO_0016374 neuralgia of cranial neuron projection bundle|cranial neuron projection bundle neuralgia|facial neuralgia ordo_group_of_disorders HGNC:14000 PRDM16 biolink:OntologyClass mondo http://identifiers.org/hgnc/14000 MONDO:0004379 female breast carcinoma biolink:Disease mondo DOID:7843|ICD9:174.9|DOID:0050671|UMLS:C0007104|ICD9:174.8|SCTID:447782002|SCTID:372064008|NCIT:C2918 A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females. DOID:7843|SNOMEDCT:372064008|NCIT:C2918|UMLS:C0007104|DOID:0050671|SNOMEDCT:447782002 http://purl.obolibrary.org/obo/MONDO_0004379 female breast cancer|carcinoma of female breast|mammary carcinoma of the female breast|mammary carcinoma of female breast|female breast carcinoma|breast carcinoma, female|carcinoma of the female breast MONDO:0004378 pediatric cerebral ependymoblastoma biolink:Disease mondo UMLS:C1332962|DOID:7841|NCIT:C6957 An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children. DOID:7841|UMLS:C1332962|NCIT:C6957 http://purl.obolibrary.org/obo/MONDO_0004378 childhood cerebral ependymoblastoma|childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered MONDO:0004375 end stage renal failure biolink:Disease mondo COHD:193782|ICD9:585.6|SCTID:46177005|DOID:783|NCIT:C9439 Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. NCIT:C9439|DOID:783|SNOMEDCT:46177005 http://purl.obolibrary.org/obo/MONDO_0004375 ESRD, end stage renal disease|end stage renal disease (ESRD)|disease (ESRD), end stage renal|renal disease (ESRD), end stage|renal disease, end stage|end stage kidney disease|end stage renal disease|end stage kidney failure|chronic kidney disease, stage 5|ESRD MONDO:0004374 adult extraskeletal osteosarcoma biolink:Disease mondo NCIT:C7925|DOID:7827|UMLS:C0278985 An osteosarcoma arising from the soft tissue, and occurring in adults. UMLS:C0278985|NCIT:C7925|DOID:7827 http://purl.obolibrary.org/obo/MONDO_0004374 extraosseous osteosarcoma of adults|adult extraosseous osteosarcoma|adult extraskeletal osteosarcoma|extraskeletal osteosarcoma MONDO:0004377 pancreatic non-functioning delta cell tumor biolink:Disease mondo UMLS:C1335311|NCIT:C28333|DOID:7840 A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome. DOID:7840|NCIT:C28333|UMLS:C1335311 http://purl.obolibrary.org/obo/MONDO_0004377 non-functional pancreatic Delta cell NET|non-functioning pancreatic Delta cell tumor|nonfunctional Pancreatic Delta cell Neuroendocrine tumor|non-functional pancreatic Delta cell neuroendocrine tumor|non-functioning pancreatic Delta cell neoplasm MONDO:0004376 infiltrating nipple syringomatous adenoma biolink:Disease mondo NCIT:C40363|UMLS:C1518329|DOID:7839 An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported. UMLS:C1518329|NCIT:C40363|DOID:7839 http://purl.obolibrary.org/obo/MONDO_0004376 infiltrating nipple syringomatous adenoma|nipple syringomatous adenoma MONDO:0004371 spinal multifocal clear cell meningioma biolink:Disease mondo NCIT:C5287|UMLS:C1336051|DOID:7824 A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells. UMLS:C1336051|NCIT:C5287|DOID:7824 http://purl.obolibrary.org/obo/MONDO_0004371 spinal multifocal clear cell meningioma|multifocal clear cell meningioma of spine|multifocal clear cell meningioma of the spine MONDO:0004370 sphenocavernous meningioma biolink:Disease mondo DOID:7820|UMLS:C1336036|NCIT:C5313 A meningioma that affects the sphenocavernous region. UMLS:C1336036|NCIT:C5313|DOID:7820 http://purl.obolibrary.org/obo/MONDO_0004370 MONDO:0004373 adult papillary meningioma biolink:Disease mondo NCIT:C8293|UMLS:C0281334|DOID:7826 A papillary meningioma occurring in adults. NCIT:C8293|UMLS:C0281334|DOID:7826 http://purl.obolibrary.org/obo/MONDO_0004373 papillary meningioma|papillary meningioma of adults|adult papillary meningioma MONDO:0004372 chronic toxic polyneuropathy biolink:Disease mondo NCIT:C35603|UMLS:C1333048|DOID:7825 UMLS:C1333048|DOID:7825|NCIT:C35603 http://purl.obolibrary.org/obo/MONDO_0004372 chronic toxic polyneuropathy MONDO:0016368 Rothmund-Thomson syndrome type 1 biolink:Disease mondo ICD10:Q82.8|Orphanet:221008|UMLS:CN201233|OMIM:618625 Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer. UMLS:CN201233|http://identifiers.org/omim/618625|ORPHA:221008 http://purl.obolibrary.org/obo/MONDO_0016368 Poikiloderma Atrophicans and Cataract|poikiloderma of Rothmund-Thomson type 1|ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1|RTS1 ordo_clinical_subtype MONDO:0016369 Rothmund-Thomson syndrome type 2 biolink:Disease mondo Orphanet:221016|UMLS:CN201234|OMIM:268400|ICD10:Q82.8 Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. UMLS:CN201234|http://identifiers.org/omim/268400|ORPHA:221016 http://purl.obolibrary.org/obo/MONDO_0016369 RTS2|poikiloderma of Rothmund-Thomson type 2 ordo_clinical_subtype HGNC:16636 KIF1B biolink:OntologyClass mondo http://identifiers.org/hgnc/16636 MONDO:0016364 Joubert syndrome with ocular defect biolink:Disease mondo GARD:0010168|ICD10:Q04.3|UMLS:C4274118|SCTID:716998009|Orphanet:220493|ICD10:H35.5|UMLS:CN201217 Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy. UMLS:C4274118|ORPHA:220493|SNOMEDCT:716998009|UMLS:CN201217 http://purl.obolibrary.org/obo/MONDO_0016364 JS-O|Joubert syndrome with ocular anomalies|JBTS3|Joubert syndrome with retinopathy|Joubert syndrome 3 ordo_disease|gard_rare MONDO:0016365 familial primary hyperparathyroidism biolink:Disease mondo UMLS:CN201220|GARD:0002837|Orphanet:2207|ICD10:E21.0 An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. ORPHA:2207|UMLS:CN201220 http://purl.obolibrary.org/obo/MONDO_0016365 hereditary primary hyperparathyroidism (disease) ordo_group_of_disorders MONDO:0016366 maternal phenylketonuria biolink:Disease mondo ICD10:E70.1|Orphanet:2209|GARD:0003413 Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations. ORPHA:2209|UMLS:C0085547 http://purl.obolibrary.org/obo/MONDO_0016366 maternal hyperphenylalaninemia|maternal PKU|hyperphenylalaninemic embryopathy|phenylketonuric embryopathy ordo_malformation_syndrome MONDO:0016367 dermatomyositis biolink:Disease mondo Orphanet:221|NCIT:C26744|EFO:0000398|DOID:10223|ICD9:710.3|ICD10:M33|MESH:D003882|COHD:80182|ICD10:M33.90|ICD10:M33.9|MedDRA:10012503|ICD10:M33.1|SCTID:396230008|GARD:0006263|UMLS:C0011633|ICD10:M33.0 Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. SNOMEDCT:396230008|ORPHA:221|UMLS:C0011633|DOID:10223|NCIT:C26744|MEDDRA:10012503|MESH:D003882 http://purl.obolibrary.org/obo/MONDO_0016367 dermatopolymyositis|DM|dermatomyositis|polymyositis with skin involvement|adult dermatomyositis|Amyopathic dermatomyositis ordo_disease|gard_rare GO:0033267 obsolete axon part biolink:OntologyClass mondo OBSOLETE. A part of an axon, a cell projection of a neuron. http://purl.obolibrary.org/obo/GO_0033267 MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency biolink:Disease mondo ICD10:D69.4|Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. ORPHA:220448 http://purl.obolibrary.org/obo/MONDO_0016360 ordo_disease MONDO:0016361 isolated hereditary giant platelet disorder biolink:Disease mondo ICD10:D69.1|Orphanet:220452|UMLS:CN226911 UMLS:CN226911|ORPHA:220452 http://purl.obolibrary.org/obo/MONDO_0016361 isolated inherited macrothrombocytopenia|isolated hereditary macrothrombocytopenia|isolated inherited giant platelet disorder ordo_group_of_disorders MONDO:0016362 attenuated familial adenomatous polyposis biolink:Disease mondo NCIT:C6729|UMLS:C2674616|GARD:0008532|MESH:C538265|Orphanet:220460|SCTID:715866009|ICD10:D12.6 Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features. UMLS:C2674616|NCIT:C6729|SNOMEDCT:715866009|ORPHA:220460|MESH:C538265 http://purl.obolibrary.org/obo/MONDO_0016362 AAPC|mild form of FAP|hereditary flat adenoma syndrome|AFAP|attenuated adenomatous polyposis coli|HFAS|attenuated familial polyposis coli|attenuated familial adenomatous polyposis|attenuated FAP ordo_disease MONDO:0016363 obsolete rare hereditary hemochromatosis biolink:Disease mondo Orphanet:220489|SCTID:35400008 Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease. ORPHA:220489|SNOMEDCT:35400008 http://purl.obolibrary.org/obo/MONDO_0016363 iron overload disease|rare hereditary hemochromatosis ordo_group_of_disorders|ordo_disease|obsoletion_candidate MONDO:0004389 mite infestation biolink:Disease mondo SCTID:240885009|ICD10:B88.9|DOID:7894|ICD9:133|UMLS:C0026229|ICD10:B88.0|MESH:D008924|ICD9:133.9 Infestations with arthropods of the subclass acari, superorder Acariformes. MESH:D008924|SNOMEDCT:240885009|DOID:7894|UMLS:C0026229 http://purl.obolibrary.org/obo/MONDO_0004389 HGNC:28625 NDUFAF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/28625 MONDO:0004386 uterine corpus atypical polypoid adenomyoma biolink:Disease mondo UMLS:C1519844|DOID:7878|NCIT:C40235 An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision. UMLS:C1519844|NCIT:C40235|DOID:7878 http://purl.obolibrary.org/obo/MONDO_0004386 body of uterus atypical polypoid adenomyoma|atypical polypoid adenomyoma of body of uterus MONDO:0004385 adult xanthogranuloma biolink:Disease mondo DOID:7875|UMLS:C1332220|NCIT:C27514 A xanthogranuloma that occurs in an adult. NCIT:C27514|DOID:7875|UMLS:C1332220 http://purl.obolibrary.org/obo/MONDO_0004385 adult xanthogranuloma|xanthogranuloma of adults MONDO:0004388 obsolete testicular spermatocytic seminoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004388 MONDO:0004387 luteoma of pregnancy biolink:Disease mondo MESH:D018311|UMLS:C1517842|NCIT:C40445|DOID:7880|UMLS:C0024167 A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required. UMLS:C0024167|MESH:D018311|UMLS:C1517842|NCIT:C40445|DOID:7880 http://purl.obolibrary.org/obo/MONDO_0004387 luteoma|leuteoma of pregnancy MONDO:0004382 laryngeal disease biolink:Disease mondo ICD9:478.70|DOID:786|MESH:D007818|UMLS:C0023051|NCIT:C26810|SCTID:60600009|ICD10:J38.7|ICD10:S12.8 A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma. UMLS:C0023051|MESH:D007818|NCIT:C26810|SNOMEDCT:60600009|DOID:786 http://purl.obolibrary.org/obo/MONDO_0004382 laryngeal disease|larynx disease or disorder|disorder of the larynx|laryngeal disorder|disorder of larynx|disease of larynx|disease or disorder of larynx|disorder of larynx|larynx disease MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia biolink:Disease mondo NCIT:C41249|DOID:7851|UMLS:C1518868|SCTID:473418001|ICDO:8453/0 A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures. UMLS:C1518868|NCIT:C41249|DOID:7851|SNOMEDCT:473418001 http://purl.obolibrary.org/obo/MONDO_0004381 pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary-mucinous adenoma MONDO:0004384 maxillary sinus inverted papilloma biolink:Disease mondo UMLS:C1334645|NCIT:C6840|DOID:7868 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. NCIT:C6840|UMLS:C1334645|DOID:7868 http://purl.obolibrary.org/obo/MONDO_0004384 inverted papilloma of the maxillary sinus|inverted papilloma of maxillary sinus|maxillary sinus inverted papilloma MONDO:0004383 adult central nervous system germinoma biolink:Disease mondo UMLS:C1370504|DOID:7867|NCIT:C5792 A central nervous system germinoma that occurs in an adult. UMLS:C1370504|NCIT:C5792|DOID:7867 http://purl.obolibrary.org/obo/MONDO_0004383 Central nervous system germinoma|central nervous system germinoma of adults|germinoma of adult central nervous system|germinoma of the adult central nervous system|adult CNS germinoma|germinoma of the adult CNS|germinoma of adult CNS|adult central nervous system germinoma MONDO:0004380 dendritic cell sarcoma biolink:Disease mondo ONCOTREE:DCS|DOID:7849|NCIT:C27260|SCTID:446643000 A sarcoma that involves the dendritic cell. NCIT:C27260|SNOMEDCT:446643000|DOID:7849 http://purl.obolibrary.org/obo/MONDO_0004380 Dendritic cell sarcoma|follicular dendritic cell sarcoma|Dendritic cell tumor, not otherwise specified|dendritic cell sarcoma|Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)|sarcoma of dendritic cell|Dendritic cell sarcoma, not otherwise specified|Dendritic cell tumor, NOS|Dendritic cell sarcoma, NOS MONDO:0016357 dysplastic cortical hyperostosis biolink:Disease mondo Orphanet:2204|GARD:0002022|ICD10:M89.8|UMLS:CN201209 ORPHA:2204|UMLS:CN201209 http://purl.obolibrary.org/obo/MONDO_0016357 Kozlowski-Tsuruta syndrome ordo_malformation_syndrome|gard_rare MONDO:0016358 limited cutaneous systemic sclerosis biolink:Disease mondo SCTID:298285004|Orphanet:220402|GARD:0001053|ICD10:M34.1 Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. SNOMEDCT:298285004|ORPHA:220402 http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic scleroderma ordo_clinical_subtype MONDO:0016359 limited systemic sclerosis biolink:Disease mondo NCIT:C116789|UMLS:C1290138|GARD:0009749|ICD10:M34.0|Orphanet:220407|SCTID:128461001 Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. NCIT:C116789|UMLS:C1290138|SNOMEDCT:128461001|ORPHA:220407 http://purl.obolibrary.org/obo/MONDO_0016359 SSC without skin involvement|systemic sclerosis sine scleroderma|progressive systemic sclerosis sine scleroderma|Scleroderma, sine|systemic sclerosis without skin involvement ordo_clinical_subtype MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome biolink:Disease mondo Orphanet:2201|MESH:C538358|GARD:0003095 UMLS:C1835671|ORPHA:2201|MESH:C538358 http://purl.obolibrary.org/obo/MONDO_0016353 Powell-Venencie-Gordon syndrome|palmoplantar hyperkeratosis-spastic paralysis syndrome|keratoderma palmoplantar spastic paralysis ordo_disease MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex biolink:Disease mondo ICD10:Q82.1|Orphanet:220295|ICD10:Q87.1|UMLS:CN201205 Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). UMLS:CN201205|ORPHA:220295 http://purl.obolibrary.org/obo/MONDO_0016354 XP/CS complex ordo_disease NCBITaxon:297308 Ixodoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_297308 MONDO:0016355 semilobar holoprosencephaly biolink:Disease mondo Orphanet:220386|ICD10:Q04.2 Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. UMLS:C0751617|ORPHA:220386 http://purl.obolibrary.org/obo/MONDO_0016355 ordo_clinical_subtype HGNC:16644 IFITM5 biolink:OntologyClass mondo http://identifiers.org/hgnc/16644 MONDO:0016356 diffuse cutaneous systemic sclerosis biolink:Disease mondo ICD10:M34.0|NCIT:C116791|Orphanet:220393|GARD:0009751 Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). NCIT:C116791|ORPHA:220393 http://purl.obolibrary.org/obo/MONDO_0016356 diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis|dSSc|progressive cutaneous systemic scleroderma|DcSSc ordo_clinical_subtype|gard_rare MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:2186 Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. UMLS:C2931014|ORPHA:2186 http://purl.obolibrary.org/obo/MONDO_0016350 Daentl-Townsend-Siegel syndrome ordo_malformation_syndrome MONDO:0016351 anti-HLA hyperimmunization biolink:Disease mondo GARD:0000730|UMLS:CN201194|Orphanet:2194 Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion. ORPHA:2194|UMLS:CN201194 http://purl.obolibrary.org/obo/MONDO_0016351 gard_rare|ordo_disease MONDO:0016352 idiopathic inherited hypercalciuria biolink:Disease mondo Orphanet:2197|ICD10:E83.5 ORPHA:2197 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic hypercalciuria ordo_disease MONDO:0006936 pulmonary valve stenosis biolink:Disease mondo EFO:1001138|DOID:6420|MESH:D011666|MedDRA:10037450 The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. DOID:6420|MESH:D011666 http://purl.obolibrary.org/obo/MONDO_0006936 MONDO:0006937 pulpitis biolink:Disease mondo DOID:11121|UMLS:C0034103|ICD9:522.0|ICD10:K04.0|SCTID:32620007|COHD:437589|MESH:D011671|MedDRA:10037463|EFO:1001139 Inflammation of the dental pulp. SNOMEDCT:32620007|NCIT:C52595|MESH:D011671|UMLS:C0034103|DOID:11121 http://purl.obolibrary.org/obo/MONDO_0006937 inflammation of dental pulp|dental pulp inflammation MONDO:0006934 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006934 MONDO:0006935 pulmonary subvalvular stenosis biolink:Disease mondo EFO:1001137|MESH:D011662|NCIT:C34961|ICD9:746.83|DOID:8861|ICD10:Q24.3|SCTID:204370002 The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies. NCIT:C34961|MESH:D011662|SNOMEDCT:204370002|DOID:8861 http://purl.obolibrary.org/obo/MONDO_0006935 pulmonary infundibular stenosis|congenital infundibular stenosis|subvalvular pulmonic stenosis|infundibular pulmonic stenosis|infundibular pulmonic stenosis, congenital MONDO:0006932 pulmonary edema biolink:Disease mondo EFO:1001134|DOID:11396|UMLS:C0034063|ICD10:J81.1|MedDRA:10037375|ICD10:J81|NCIT:C26868|MESH:D011654|SCTID:19242006 Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure). MESH:D011654|UMLS:C0034063|DOID:11396|NCIT:C26868|SNOMEDCT:19242006 http://purl.obolibrary.org/obo/MONDO_0006932 edema, pulmonary MONDO:0006933 pulmonary plasma cell granuloma biolink:Disease mondo EFO:1001135|UMLS:C0085269|SCTID:1648002|MESH:D016726|ICD9:518.89|DOID:3677 A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter. DOID:3677|MESH:D016726|SNOMEDCT:1648002|UMLS:C0085269 http://purl.obolibrary.org/obo/MONDO_0006933 granuloma, plasma cell, pulmonary|lymphocytic pseudotumor of lung|sclerosing hemangiocytoma of lung MONDO:0006930 pseudobulbar palsy biolink:Disease mondo MESH:D020828|MedDRA:10037114|SCTID:7379000|EFO:1001131|DOID:12680|NCIT:C129934|COHD:373190|ICD9:335.23|UMLS:C0033790 A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes. NCIT:C129934|DOID:12680|UMLS:C0033790|MESH:D020828|SNOMEDCT:7379000 http://purl.obolibrary.org/obo/MONDO_0006930 pseudobulbar paralysis|pseudobulbar palsy HGNC:1975 VSX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1975 MONDO:0006931 pulmonary coin lesion biolink:Disease mondo EFO:1001133|DOID:5364|ICD10:R91.1|MESH:D003074|UMLS:C0009250 A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura. DOID:5364|MESH:D003074|UMLS:C0009250 http://purl.obolibrary.org/obo/MONDO_0006931 coin lesion of lung (context-dependent category)|coin lesion of lung|coin lesion lung|coin lesion of lung (finding) MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract biolink:Disease mondo Orphanet:56044|MedDRA:10007426|UMLS:CN205299 Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites. MEDDRA:10007426|ORPHA:56044|UMLS:C0235782|UMLS:CN205299 http://purl.obolibrary.org/obo/MONDO_0018918 carcinoma of gallbladder and EBT ordo_group_of_disorders MONDO:0018917 obsolete Marfan syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018917 MONDO:0018919 McCune-Albright syndrome biolink:Disease mondo GARD:0006995|OMIM:174800|ICD10:Q78.1|UMLS:C0016065|NCIT:C48627|Orphanet:562|SCTID:726029005|DOID:1858|UMLS:C0242292 McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP). http://identifiers.org/omim/174800|UMLS:C0242292|NCIT:C48627|ORPHA:562|SNOMEDCT:726029005|MESH:D005359|UMLS:C0016065|DOID:1858 http://purl.obolibrary.org/obo/MONDO_0018919 MAS|gonadotropin-independent female-limited sexual precocity|polyostotic fibrous dysplasia|PFD|POFD|McCune Albright syndrome|Albright's disease ordo_disease MONDO:0018925 familial or sporadic hemiplegic migraine biolink:Disease mondo ICD9:346.30|ICD10:G43.1|Orphanet:569|GARD:0010768|SCTID:59292006 Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM). ORPHA:569|SNOMEDCT:59292006 http://purl.obolibrary.org/obo/MONDO_0018925 hemiplegic migraine gard_rare|ordo_disease UBERON:0003571 trachea connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a trachea. http://purl.obolibrary.org/obo/UBERON_0003571 connective tissue of windpipe|connective tissue of trachea MONDO:0018924 microphthalmia, Lenz type biolink:Disease mondo Orphanet:568|GARD:0000087|ICD10:Q11.2 Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome. ORPHA:568|UMLS:C0796016 http://purl.obolibrary.org/obo/MONDO_0018924 MAA (formerly)|microphthalmia or anophthalmos with associated anomalies (formerly)|microphthalmia Lenz type|syndromic microphthalmia type 1|MCOPS1|Lenz microphthamia syndrome|Lenz dysplasia|microphthalmia syndromic 1|Lenz microphthalmia ordo_malformation_syndrome|gard_rare UBERON:0003572 chest connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a chest [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003572 connective tissue of anterior thoracic region|anterolateral part of thorax portion of connective tissue|portion of connective tissue of anterior thoracic region|textus connectivus of chest|front of thorax portion of connective tissue|anterior thoracic region textus connectivus|front of thorax connective tissue|textus connectivus of front of thorax|textus connectivus of anterolateral part of thorax|chest portion of connective tissue|anterolateral part of thorax connective tissue|anterolateral part of thorax textus connectivus|textus connectivus of anterior thoracic region|connective tissue of chest|portion of connective tissue of chest|portion of connective tissue of front of thorax|anterior thoracic region connective tissue|front of thorax textus connectivus|connective tissue of front of thorax|chest textus connectivus|portion of connective tissue of anterolateral part of thorax|connective tissue of anterolateral part of thorax|anterior thoracic region portion of connective tissue MONDO:0018927 SUNCT syndrome biolink:Disease mondo NCIT:C85174|MESH:D050798|UMLS:C1262087|SCTID:725058003|ICD10:G44.8|MedDRA:10061981|Orphanet:57145|GARD:0009257 SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). ORPHA:57145|SNOMEDCT:725058003|NCIT:C85174|UMLS:C1262087|MEDDRA:10061981|MESH:D050798 http://purl.obolibrary.org/obo/MONDO_0018927 short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing|short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing|SUNCT headache ordo_disease UBERON:0003570 respiratory system connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003570 apparatus respiratorius textus connectivus|connective tissue of respiratory system|portion of connective tissue of respiratory system|textus connectivus of apparatus respiratorius|apparatus respiratorius connective tissue|respiratory system portion of connective tissue|textus connectivus of respiratory system|apparatus respiratorius portion of connective tissue|portion of connective tissue of apparatus respiratorius|respiratory system textus connectivus|connective tissue of apparatus respiratorius MONDO:0018926 human prion disease biolink:Disease mondo ICD10:A81.0|ICD10:A81.9|Orphanet:56970|ICD10:A81.8|ICD10:A81.1 Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ). ORPHA:56970 http://purl.obolibrary.org/obo/MONDO_0018926 TSE|transmissible spongiform encephalopathy ordo_group_of_disorders MONDO:0018921 Meckel syndrome biolink:Disease mondo NCIT:C98978|ICD9:753.10|OMIMPS:249000|ICD9:759.89|ICD10:Q61.9|ICD9:753.1|UMLS:C0265215|GARD:0003436|DOID:0050778|Orphanet:564|SCTID:29076005 Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. UMLS:C0265215|ORPHA:564|DOID:0050778|NCIT:C98978|SNOMEDCT:29076005 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel-Gruber syndrome ordo_malformation_syndrome MONDO:0018920 peripartum cardiomyopathy biolink:Disease mondo GARD:0000220|MedDRA:10049430|Orphanet:563|DOID:9997|EFO:0002628|ICD10:O90.3|COHD:312383|ICD9:674.54|ICD9:674.5|SCTID:62377009|UMLS:C0269972 Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery. ORPHA:563|SNOMEDCT:62377009|UMLS:C0877208|DOID:9997|UMLS:C0269972|MEDDRA:10049430 http://purl.obolibrary.org/obo/MONDO_0018920 postpartum cardiomyopathy|postpartum peripartum cardiomyopathy|antepartum peripartum cardiomyopathy|peripartum cardiomyopathy|Meadows' syndrome ordo_disease|gard_rare MONDO:0018923 22q11.2 deletion syndrome biolink:Disease mondo MedDRA:10066430|Orphanet:567|ICD10:D82.1|MedDRA:10012979|GARD:0010299 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. UMLS:C0795907|UMLS:C3266101|UMLS:C0012236|ORPHA:567|MESH:D058165|UMLS:C0220704|MEDDRA:10066430|MEDDRA:10012979|UMLS:C2936346 http://purl.obolibrary.org/obo/MONDO_0018923 conotruncal anomaly face syndrome|22q11DS|DiGeorge sequence|Cayler cardiofacial syndrome|DiGeorge syndrome|monosomy 22q11|velocardiofacial syndrome|microdeletion 22q11.2|Sedlackova syndrome|Shprintzen syndrome|catch 22|VCFS|Takao syndrome ordo_malformation_syndrome MONDO:0018922 cold agglutinin disease biolink:Disease mondo UMLS:CN205305|Orphanet:56425|SCTID:127055007|UMLS:C1264008|GARD:0006130|ICD10:D59.1 Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C). ORPHA:56425|UMLS:C1264008|SNOMEDCT:127055007|UMLS:CN205305 http://purl.obolibrary.org/obo/MONDO_0018922 chronic cold agglutinin disease|CAS|cold agglutinin syndrome|cold antibody disease|cold antibody hemolytic anemia|anemia, hemolytic, cold antibody|CAD ordo_disease HGNC:1984 CISH biolink:OntologyClass mondo http://identifiers.org/hgnc/1984 UBERON:0003579 shoulder connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a shoulder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003579 textus connectivus of shoulder|shoulder portion of connective tissue|portion of connective tissue of shoulder|shoulder textus connectivus|connective tissue of shoulder HGNC:1985 CIT biolink:OntologyClass mondo http://identifiers.org/hgnc/1985 UBERON:0003577 knee connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a knee [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003577 knee portion of connective tissue|connective tissue of knee UBERON:0003578 pedal digit connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a toe [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003578 digitus pedis textus connectivus|connective tissue of foot digit|connective tissue of toe|foot digit connective tissue|connective tissue of digitus pedis|connective tissue of digit of foot|foot digit connective tissue|hind limb digit connective tissue HGNC:1983 UTP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1983 MONDO:0006929 Proteus infectious disease biolink:Disease mondo SCTID:186437007|EFO:1001130|UMLS:C0033700|MESH:D011512 Infections with bacteria of the genus proteus. UMLS:C0033700|MESH:D011512|SNOMEDCT:186437007 http://purl.obolibrary.org/obo/MONDO_0006929 infection, Proteus|Proteus disease or disorder|Proteus infection|Proteus infectious disease|Proteus caused disease or disorder|infections, Proteus UBERON:0003575 wrist connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a wrist [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003575 carpal region connective tissue|connective tissue of wrist|connective tissue of carpal region HGNC:1980 CILP biolink:OntologyClass mondo http://identifiers.org/hgnc/1980 UBERON:0003576 hip connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a hip [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003576 connective tissue of regio coxae|connective tissue of hip region|connective tissue of hip MONDO:0006927 Rickettsiaceae infectious disease biolink:Disease mondo EFO:1001128|MESH:D012288 Infections with bacteria of the family rickettsiaceae. MESH:D012288 http://purl.obolibrary.org/obo/MONDO_0006927 infections, Rickettsiaceae|Rickettsiaceae disease or disorder|Rickettsiaceae infection|Rickettsiaceae caused disease or disorder|infection, Rickettsiaceae|rickettsialpox UBERON:0003573 arm connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of an arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003573 MONDO:0006928 proliferative vitreoretinopathy biolink:Disease mondo EFO:1001129|MESH:D018630|UMLS:C0242852|DOID:9719|MedDRA:10057896 Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes. UMLS:C0242852|MESH:D018630|DOID:9719 http://purl.obolibrary.org/obo/MONDO_0006928 retinitis proliferans UBERON:0003574 elbow connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a elbow [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003574 textus connectivus of cubital region|connective tissue of elbow|connective tissue of cubital region MONDO:0006947 renovascular hypertension (disease) biolink:Disease mondo EFO:1001153|DOID:1591|UMLS:C0020545|SCTID:123799005|ICD9:405.91|ICD10:I15.0|COHD:317895|HP:0100817 High blood pressure secondary to renal artery stenosis. NCIT:C85044|SNOMEDCT:123799005|DOID:1591|UMLS:C0020545 http://purl.obolibrary.org/obo/MONDO_0006947 renovascular hypertension MONDO:0006948 retinal artery occlusion biolink:Disease mondo SCTID:232035005|UMLS:C0035302|MESH:D015356|EFO:1001154|NCIT:C34978|DOID:8483|MedDRA:10038827 An occlusion of the retinal artery. SNOMEDCT:232035005|NCIT:C34978|UMLS:C0035302|DOID:8483|MESH:D015356 http://purl.obolibrary.org/obo/MONDO_0006948 MONDO:0006945 renal artery obstruction biolink:Disease mondo MESH:D012078|ICD10:N28.0|DOID:2972|EFO:1001150|UMLS:C0035066 Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). MESH:D012078|UMLS:C0035066|DOID:2972 http://purl.obolibrary.org/obo/MONDO_0006945 MONDO:0006946 renal osteodystrophy biolink:Disease mondo MedDRA:10038489|SCTID:16726004|EFO:1001152|UMLS:C0035086|ICD10:N25.0|DOID:13068|ICD9:588.0|GARD:0007551|COHD:197921|MESH:D012080 Abnormalities of bone mineral metabolism associated with chronic kidney disease. MESH:D012080|DOID:13068|UMLS:C0035086|SNOMEDCT:16726004|NCIT:C114827 http://purl.obolibrary.org/obo/MONDO_0006946 Osteodystrophies, renal|osteodystrophy, renal|rickets, renal|renal Osteodystrophies|renal rickets MONDO:0006943 obsolete relapsing polychondritis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006943 MONDO:0006944 renal aminoaciduria biolink:Disease mondo MESH:D000608|MedDRA:10001939|SCTID:35912001|EFO:1001149 A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. MESH:D000608|SNOMEDCT:35912001 http://purl.obolibrary.org/obo/MONDO_0006944 MONDO:0006941 rat-bite fever biolink:Disease mondo EFO:1001144|UMLS:C0034686|ICD10:A25.1|GARD:0009557|ICD10:A25.0|MedDRA:10037904|SCTID:1685005|COHD:433690|MESH:D011906|NCIT:C34971|ICD9:026.9|ICD10:A25.9|Orphanet:31205 An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus. NCIT:C34971|SNOMEDCT:1685005|MESH:D011906|UMLS:C0034686|MEDDRA:10037904|ORPHA:31205 http://purl.obolibrary.org/obo/MONDO_0006941 spirillosis|rat bite fever|Streptobacillosis gard_rare|ordo_disease UBERON:0003559 hindbrain arachnoid mater biolink:AnatomicalEntity mondo An arachnoid mater that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003559 hindbrain arachnoid|hindbrain arachnoid mater of neuraxis|arachnoid mater of neuraxis of hindbrain|arachnoid mater of hindbrain|arachnoid of hindbrain|rhombencephalon arachnoid mater MONDO:0006942 obsolete reflex epilepsy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006942 HGNC:1987 CITED2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1987 MONDO:0006940 radial nerve lesion biolink:Disease mondo ICD10:G56.3|EFO:1001143|UMLS:C0154744|ICD9:354.3|MedDRA:10061477|DOID:12170|COHD:141004|ICD10:G56.30|SCTID:193137006 A peripheral nerve lesion that involves the radial nerve. DOID:12170|SNOMEDCT:193137006|UMLS:C0154744 http://purl.obolibrary.org/obo/MONDO_0006940 lesion of radial nerve, NOS|radial nerve lesions|peripheral nerve lesion of radial nerve|lesion of radial nerve|radial nerve peripheral nerve lesion MONDO:0018907 craniopharyngioma biolink:Disease mondo ICD9:237.0|UMLS:C0010276|MESH:D003397|GARD:0010486|ICD10:D44.4|ICDO:9350/1|DOID:3840|SCTID:189179009|MedDRA:10011318|EFO:1000209|NCIT:C2964|Orphanet:54595 A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO) MESH:D003397|MEDDRA:10011318|NCIT:C2964|UMLS:C0010276|ORPHA:54595|DOID:3840|SNOMEDCT:189179009 http://purl.obolibrary.org/obo/MONDO_0018907 craniopharyngioma (WHO grade I)|Adamantinomatous tumor|Rathke's pouch tumor|neoplasm of Rathke's pouch|Rathke's pouch neoplasm|Dysodontogenic epithelial tumor|Rathke pouch neoplasm|craniopharyngioma (morphologic abnormality)|craniopharyngeal duct tumor|tumor of Rathke's pouch|cystoma|craniopharyngioma, benign|Rathke pouch tumor ordo_disease MONDO:0018906 follicular lymphoma biolink:Disease mondo ICD10:C82.9|UMLS:C0024301|MESH:D008224|ONCOTREE:FL|ICD10:C82.7|ICD10:C82.6|ICD10:C82.5|DOID:0050873|ICDO:9690/3|ICD10:C82.4|GARD:0002356|ICD10:C82.3|NCIT:C3209|Orphanet:545|ICD10:C82.2|ICD10:C82.1|SCTID:308121000|ICD10:C82.0|HGNC:990 Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved. NCIT:C3209|SNOMEDCT:308121000|MESH:D008224|ORPHA:545|UMLS:C0024301|DOID:0050873 http://purl.obolibrary.org/obo/MONDO_0018906 follicle center lymphoma|lymphoma, follicular|lymphoma, follicular, malignant|lymphoma, follicular centre cell|follicular non-Hodgkin's lymphoma|follicular non-Hodgkin lymphoma|follicular centre cell lymphoma ordo_disease|gard_rare MONDO:0018909 obsolete legionellosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018909 MONDO:0018908 non-Hodgkin lymphoma biolink:Disease mondo NCIT:C3211|ICDO:9591/3|MESH:D008228|MedDRA:10029547|UMLS:C0024305|Orphanet:547|EFO:0005952|DOID:0060060|ONCOTREE:NHL Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. NCIT:C3211|MESH:D008228|ORPHA:547|UMLS:C0024305|DOID:0060060|MEDDRA:10029547 http://purl.obolibrary.org/obo/MONDO_0018908 NHL|non-Hodgkins lymphoma|non-Hodgkin's lymphoma|non-Hodgkin's lymphoma (NHL)|non-Hodgkin lymphoma|NHL, NOS|non-Hodgkin lymphoma, NOS ordo_group_of_disorders UBERON:0003560 spinal cord arachnoid mater biolink:AnatomicalEntity mondo An arachnoid mater that is part of a spinal cord [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003560 arachnoid mater of neuraxis of spinal cord|arachnoid mater of spinal cord|arachnoid of spinal cord|spinal cord arachnoid|spinal cord arachnoid mater of neuraxis MONDO:0018914 hypotrichosis simplex biolink:Disease mondo UMLS:C1854310|GARD:0009170|SCTID:723362004|Orphanet:55654|ICD10:L65.8|MESH:C537160 Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. MESH:C537160|SNOMEDCT:723362004|ORPHA:55654|UMLS:C1854310 http://purl.obolibrary.org/obo/MONDO_0018914 hereditary hypotrichosis simplex ordo_disease HGNC:16628 SLC49A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/16628 MONDO:0018913 malakoplakia biolink:Disease mondo NCIT:C84833|Orphanet:556|EFO:1001807|SCTID:716766007|MESH:D008287|GARD:0006960 Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body. MESH:D008287|ORPHA:556|SNOMEDCT:716766007|NCIT:C84833 http://purl.obolibrary.org/obo/MONDO_0018913 malacoplakia ordo_disease|gard_rare HGNC:16627 CHEK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16627 UBERON:0003561 forebrain dura mater biolink:AnatomicalEntity mondo A dura mater that is part of a forebrain. http://purl.obolibrary.org/obo/UBERON_0003561 dura mater of neuraxis of forebrain|dura mater of forebrain|forebrain dura mater of neuraxis MONDO:0018916 isolated anorectal malformation biolink:Disease mondo Orphanet:557|ICD10:Q42.3|ICD10:Q42.2|ICD10:Q42.1|ICD10:Q42.0 Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls. ORPHA:557 http://purl.obolibrary.org/obo/MONDO_0018916 nonsyndromic anorectal malformation ordo_morphological_anomaly MONDO:0018915 obsolete pneumococcal meningitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018915 MONDO:0018910 oculocutaneous albinism biolink:Disease mondo Orphanet:55|UMLS:C0078918|DOID:0050632|ICD9:270.2|OMIMPS:203100|NCIT:C84941|GARD:0010958|ICD10:E70.3|MESH:D016115|SCTID:63844009 Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. DOID:0050632|UMLS:C0078918|ORPHA:55|MESH:D016115|NCIT:C84941|SNOMEDCT:63844009 http://purl.obolibrary.org/obo/MONDO_0018910 non-syndromic oculocutaneous albinism|albinism, oculocutaneous|OCA|nonsyndromic oculocutaneous albinism gard_rare|ordo_group_of_disorders MONDO:0018912 Cushing syndrome biolink:Disease mondo MedDRA:10020562|MedDRA:10011652|ICD9:255.0|ICD10:E24.8|ICD10:E24.9|GARD:0006224|ICD10:E24.4|ICD10:E24.3|ICD10:E24.2|EFO:0003099|ICD10:E24.1|NCIT:C2969|Orphanet:553|ICD10:E24|ICD10:E24.0|UMLS:C0010481|MedDRA:10020610|MESH:D003480|MedDRA:10020564 Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. MEDDRA:10011652|UMLS:C0001622|MESH:D000308|NCIT:C2969|ORPHA:553|MEDDRA:10020564|MEDDRA:10020562|MEDDRA:10020610|UMLS:C0010481|MESH:D003480 http://purl.obolibrary.org/obo/MONDO_0018912 ectopic adrenocorticotropic hormone syndrome|suprarenogenic syndrome|cortisol Excess|Cushing syndrome|nodular primary adrenocortical dysplasia|adrenal hyperfunction resulting from pituitary ACTH excess|Cushing's syndrome|pituitary basophilism|hyperadrenocorticism|hypercortisolism ordo_group_of_disorders MONDO:0018911 maturity-onset diabetes of the young (disease) biolink:Disease mondo SCTID:609561005|KEGG:04950|DOID:0050524|HP:0004904|MESH:C562772|Orphanet:552|OMIM:606391|GARD:0003697|NCIT:C114769|ICD10:E11.9|UMLS:C0342276|ICD10:E11.8 MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. ORPHA:552|DOID:0050524|UMLS:C0342276|http://identifiers.org/omim/606391|NCIT:C114769|SNOMEDCT:609561005|MESH:C562772 http://purl.obolibrary.org/obo/MONDO_0018911 MODY|maturity-onset diabetes of the young|Mason type diabetes|maturity-onset diabetes of the young; MODY|Mason-type diabetes|maturity onset diabetes of the young ordo_disease UBERON:0003568 neck connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a neck [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003568 neck (volume) portion of connective tissue|neck (volume) connective tissue|portion of connective tissue of neck|connective tissue of neck|textus connectivus of neck (volume)|textus connectivus of neck|connective tissue of neck (volume)|neck (volume) textus connectivus|neck portion of connective tissue|portion of connective tissue of neck (volume)|neck textus connectivus UBERON:0003569 leg connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003569 connective tissue of leg|portion of connective tissue of leg|leg portion of connective tissue|textus connectivus of leg|leg textus connectivus UBERON:0003566 head connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003566 textus connectivus of adult head|adult head connective tissue|adult head textus connectivus|textus connectivus of head|head portion of connective tissue|portion of connective tissue of adult head|connective tissue of adult head|adult head portion of connective tissue|connective tissue of head|head textus connectivus|portion of connective tissue of head UBERON:0003567 abdomen connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003567 abdomen portion of connective tissue|connective tissue of abdomen|portion of connective tissue of abdomen|abdomen textus connectivus|textus connectivus of abdomen UBERON:0003564 diencephalon dura mater biolink:AnatomicalEntity mondo A dura mater that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003564 dura mater of neuraxis of interbrain|between brain dura mater of neuraxis|dura mater of neuraxis of between brain|diencephalon dura mater of neuraxis|dura mater of between brain|dura mater of diencephalon|dura mater of neuraxis of diencephalon|dura mater of neuraxis of mature diencephalon|dura mater of mature diencephalon|interbrain dura mater|mature diencephalon dura mater|mature diencephalon dura mater of neuraxis|interbrain dura mater of neuraxis|dura mater of interbrain|between brain dura mater UBERON:0003565 hindbrain dura mater biolink:AnatomicalEntity mondo A dura mater that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003565 rhombencephalon dura mater|hindbrain dura mater of neuraxis|dura mater of neuraxis of hindbrain|dura mater of hindbrain UBERON:0003562 midbrain dura mater biolink:AnatomicalEntity mondo A dura mater that is part of a midbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003562 midbrain dura mater of neuraxis|dura mater of midbrain|dura mater of neuraxis of midbrain|mesencephalon dura mater MONDO:0006938 pyelitis biolink:Disease mondo DOID:2744|MedDRA:10037584|UMLS:C0034183|SCTID:27174002|EFO:1001140|MESH:D011702|ICD10:N12|NCIT:C34964 Inflammation of the renal pelvis. SNOMEDCT:27174002|NCIT:C34964|MESH:D011702|UMLS:C0034183|DOID:2744 http://purl.obolibrary.org/obo/MONDO_0006938 inflammation of renal pelvis|renal pelvis inflammation MONDO:0006939 pyelonephritis biolink:Disease mondo MESH:D011704|ICD10:N10-N16|ICD10:N16|SCTID:45816000|MedDRA:10037596|NCIT:C34965|ICD10:N12|COHD:198199|DOID:11400|EFO:1001141|ICD9:590.80|GARD:0012020|UMLS:C0034186 An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. SNOMEDCT:45816000|NCIT:C34965|MESH:D011704|UMLS:C0034186|DOID:11400 http://purl.obolibrary.org/obo/MONDO_0006939 kidney infection|pyometrium UBERON:0003563 telencephalon dura mater biolink:AnatomicalEntity mondo A dura mater that is part of a telencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003563 dura mater of neuraxis of telencephalon|telencephalon dura mater of neuraxis|dura mater of telencephalon CHEBI:22563 anion biolink:ChemicalSubstance mondo A monoatomic or polyatomic species having one or more elementary charges of the electron. http://purl.obolibrary.org/obo/CHEBI_22563 aniones|anions|Anionen|Anion|anion MONDO:0006914 obsolete POEMS syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006914 MONDO:0006915 polyradiculoneuropathy biolink:Disease mondo EFO:1001116|UMLS:C0032587|DOID:4308|SCTID:128078004|MESH:D011129 Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots. UMLS:C0032587|DOID:4308|MESH:D011129|SNOMEDCT:128078004 http://purl.obolibrary.org/obo/MONDO_0006915 MONDO:0006912 pneumatosis cystoides intestinalis biolink:Disease mondo UMLS:C0032266|MESH:D011006|DOID:13249|EFO:1001113|MedDRA:10049732|ICD9:569.89|SCTID:17465007 The presence of gas within the wall of the large or small intestine. NCIT:C122580|MESH:D011006|DOID:13249|SNOMEDCT:17465007|UMLS:C0032266 http://purl.obolibrary.org/obo/MONDO_0006912 MONDO:0006913 pneumococcal meningitis biolink:Disease mondo MESH:D008586|COHD:432879|EFO:1001114|MedDRA:10035645|UMLS:C0025295|Orphanet:55655|MedDRA:10027253|ICD10:G00.1|SCTID:51169003|ICD9:320.1 An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111) UMLS:C0025295|MESH:D008586|ORPHA:55655|MEDDRA:10027253|SNOMEDCT:51169003 http://purl.obolibrary.org/obo/MONDO_0006913 Streptococcus pneumoniae infectious meningitis|Streptococcus pneumoniae caused infectious meningitis ordo_disease GO:0045250 cytosolic pyruvate dehydrogenase complex biolink:OntologyClass mondo Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). Usually contains fewer subunits than its eukaryotic counterpart; for example, the E. coli complex contains 12 E1 dimers, 8 E2 trimers, and 6 E3 dimers arranged in highly symmetric cubic order. http://purl.obolibrary.org/obo/GO_0045250 pyruvate dehydrogenase complex (lipoamide) CHEBI:22562 anilines biolink:ChemicalSubstance mondo Any aromatic amine that is benzene carrying at least one amino substituent and its substituted derivatives. http://purl.obolibrary.org/obo/CHEBI_22562 MONDO:0006910 obsolete pituitary-dependent Cushing disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006910 MONDO:0006911 obsolete placental site trophoblastic tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006911 UBERON:0003548 forebrain meninges biolink:AnatomicalEntity mondo A meninx that is part of a forebrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003548 forebrain meninx|meninges of forebrain|meninx of forebrain UBERON:0003549 brain pia mater biolink:AnatomicalEntity mondo The fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule. http://purl.obolibrary.org/obo/UBERON_0003549 pia mater of neuraxis of brain|brain pia mater of neuraxis|pia mater of brain NCBITaxon:464095 Picornavirales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_464095 GO:0045259 proton-transporting ATP synthase complex biolink:OntologyClass mondo A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient. http://purl.obolibrary.org/obo/GO_0045259 F1-F0 complex|hydrogen-transporting ATP synthase complex|proton-transporting F-type ATPase complex|hydrogen-translocating F-type ATPase complex GO:0045254 pyruvate dehydrogenase complex biolink:OntologyClass mondo Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). http://purl.obolibrary.org/obo/GO_0045254 pyruvate dehydrogenase complex (lipoamide)|dihydrolipoyl dehydrogenase complex MONDO:0018903 sarcocystosis biolink:Disease mondo MESH:D012523|Orphanet:54368|UMLS:C0036231|MedDRA:10039483|EFO:0007476|ICD9:136.5|SCTID:88905005|DOID:9640|ICD10:A07.8 Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism. SNOMEDCT:88905005|MESH:D012523|UMLS:C0036231|ORPHA:54368|MEDDRA:10039483|DOID:9640 http://purl.obolibrary.org/obo/MONDO_0018903 sarcosporidiosis ordo_disease MONDO:0018902 hepatocellular adenoma biolink:Disease mondo Orphanet:54272|MedDRA:10019827|MESH:D018248|UMLS:C0206669|EFO:0000762|NCIT:C3758|DOID:0050868|ONCOTREE:LIAD|ICDO:8170/0|ICD10:D13.4 A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. NCIT:C3758|MEDDRA:10019827|DOID:0050868|UMLS:C0206669|ORPHA:54272|MESH:D018248 http://purl.obolibrary.org/obo/MONDO_0018902 liver cell adenoma|HCA|hepatocellular adenoma|adenoma of the liver cells|adenoma of liver cells|adenoma, hepatocellular, benign|LIAD ordo_disease UBERON:0003550 forebrain pia mater biolink:AnatomicalEntity mondo A pia mater that is part of a forebrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003550 pia mater of neuraxis of forebrain|forebrain pia mater of neuraxis|pia mater of forebrain MONDO:0018905 diffuse large B-cell lymphoma biolink:Disease mondo ICD9:200.7|EFO:0000403|UMLS:C0079744|ICD10:C83.3|MESH:D016403|MedDRA:10012818|DOID:0050745|Orphanet:544|GARD:0003178|ICDO:9680/3|NCIT:C8851 Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common. MEDDRA:10012818|ORPHA:544|DOID:0050745|UMLS:C0079744|NCIT:C8851|MESH:D016403 http://purl.obolibrary.org/obo/MONDO_0018905 diffuse large B-cell lymphoma|DLBCL ordo_group_of_disorders|gard_rare MONDO:0018904 primary membranoproliferative glomerulonephritis biolink:Disease mondo MedDRA:10018370|NCIT:C34644|Orphanet:54370|GARD:0011982|SCTID:80321008|UMLS:C0017662|COHD:433257|ICD10:N00.5|ICD9:583.2 Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes. MESH:D015432|SNOMEDCT:80321008|MEDDRA:10018370|NCIT:C34644|ORPHA:54370|UMLS:C0017662 http://purl.obolibrary.org/obo/MONDO_0018904 membranoproliferative glomerulonephritis|MPGN|Mesangiocapillary glomerulonephritis|membranoproliferative glomerulonephritis ordo_disease MONDO:0018901 left ventricular noncompaction (disease) biolink:Disease mondo GARD:0010985|Orphanet:54260|ICD10:I42.8|OMIMPS:604169|UMLS:C1960469|UMLS:C4021133|DOID:0060480|NCIT:C99544 Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events. UMLS:C4021133|ORPHA:54260|NCIT:C99544|DOID:0060480|UMLS:C1960469 http://purl.obolibrary.org/obo/MONDO_0018901 LVNC|left ventricular non-compaction cardiomyopathy|left ventricular hypertrabeculation|Lv non-compaction syndrome|spongy myocardium|left ventricular non-compaction syndrome ordo_disease|gard_rare MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome biolink:Disease mondo SCTID:720751000|GARD:0010946|Orphanet:54251|UMLS:CN205271 Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders. ORPHA:54251|UMLS:CN205271|SNOMEDCT:720751000 http://purl.obolibrary.org/obo/MONDO_0018900 aseptic abscesses syndrome|aseptic systemic abscesses|corticosteroid-sensitive aseptic abscesses|disseminated aseptic abscesses ordo_disease UBERON:0003557 midbrain arachnoid mater biolink:AnatomicalEntity mondo An arachnoid mater that is part of a midbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003557 mesencephalon arachnoid mater|midbrain arachnoid|midbrain arachnoid mater of neuraxis|arachnoid of midbrain|arachnoid mater of midbrain|arachnoid mater of neuraxis of midbrain UBERON:0003558 diencephalon arachnoid mater biolink:AnatomicalEntity mondo An arachnoid mater that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003558 arachnoid mater of interbrain|arachnoid of mature diencephalon|arachnoid mater of neuraxis of interbrain|between brain arachnoid|diencephalon arachnoid mater of neuraxis|arachnoid of diencephalon|between brain arachnoid mater|interbrain arachnoid|mature diencephalon arachnoid|between brain arachnoid mater of neuraxis|arachnoid mater of diencephalon|arachnoid mater of neuraxis of between brain|interbrain arachnoid mater|mature diencephalon arachnoid mater|arachnoid mater of between brain|arachnoid mater of neuraxis of diencephalon|interbrain arachnoid mater of neuraxis|mature diencephalon arachnoid mater of neuraxis|arachnoid mater of neuraxis of mature diencephalon|arachnoid of interbrain|arachnoid of between brain|arachnoid mater of mature diencephalon|diencephalon arachnoid MONDO:0006909 pituitary dwarfism biolink:Disease mondo UMLS:C0013338|MESH:D004393|EFO:1001109|SCTID:367460001|COHD:25780|ICD9:253.3|MedDRA:10035083 Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone. MESH:D004393|SNOMEDCT:367460001|UMLS:C0013338|NCIT:C34555 http://purl.obolibrary.org/obo/MONDO_0006909 UBERON:0003555 spinal cord pia mater biolink:AnatomicalEntity mondo A pia mater that is part of a spinal cord [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003555 pia mater of neuraxis of spinal cord|spinal cord pia mater of neuraxis|pia mater of spinal cord UBERON:0003556 forebrain arachnoid mater biolink:AnatomicalEntity mondo An arachnoid mater that is part of a forebrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003556 arachnoid of forebrain|forebrain arachnoid|forebrain arachnoid mater of neuraxis|arachnoid mater of neuraxis of forebrain|arachnoid mater of forebrain UBERON:0003553 diencephalon pia mater biolink:AnatomicalEntity mondo A pia mater that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003553 mature diencephalon pia mater|interbrain pia mater|pia mater of neuraxis of mature diencephalon|pia mater of neuraxis of diencephalon|mature diencephalon pia mater of neuraxis|interbrain pia mater of neuraxis|pia mater of mature diencephalon|pia mater of interbrain|pia mater of neuraxis of interbrain|diencephalon pia mater of neuraxis|between brain pia mater|pia mater of neuraxis of between brain|between brain pia mater of neuraxis|pia mater of between brain|pia mater of diencephalon MONDO:0006907 pilar sheath acanthoma biolink:Disease mondo UMLS:C0346005|DOID:4322|SCTID:254693008|EFO:1001107|NCIT:C4468 A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes. NCIT:C4468|UMLS:C0346005|DOID:4322|SNOMEDCT:254693008 http://purl.obolibrary.org/obo/MONDO_0006907 Infundibuloisthmicoma|Pilar sheath acanthoma|acanthoma of Pilar sheath|acanthoma of the Pilar sheath MONDO:0006908 pituitary apoplexy biolink:Disease mondo SCTID:237701005|ICD9:253.8|EFO:1001108|UMLS:C0032001|Orphanet:95613|MESH:D010899|DOID:1129|MedDRA:10056447|ICD10:E23.6|NCIT:C26853 A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction. ORPHA:95613|MESH:D010899|MEDDRA:10056447|NCIT:C26853|UMLS:C0032001|SNOMEDCT:237701005|DOID:1129 http://purl.obolibrary.org/obo/MONDO_0006908 pituitary gland apoplexy ordo_disease UBERON:0003554 hindbrain pia mater biolink:AnatomicalEntity mondo A pia mater that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003554 rhombencephalon pia mater|pia mater of neuraxis of hindbrain|hindbrain pia mater of neuraxis|pia mater of hindbrain MONDO:0006905 pigmented spindle cell nevus biolink:Disease mondo MESH:D018331|EFO:1001105|NCIT:C4751|SCTID:254812004 A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma. SNOMEDCT:254812004|NCIT:C4751|MESH:D018331 http://purl.obolibrary.org/obo/MONDO_0006905 spindle cell Nevus of Reed UBERON:0003551 midbrain pia mater biolink:AnatomicalEntity mondo A pia mater that is part of a midbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003551 pia mater of midbrain|pia mater of neuraxis of midbrain|mesencephalon pia mater|midbrain pia mater of neuraxis MONDO:0006906 pigmented villonodular synovitis biolink:Disease mondo ICD9:719.2|MESH:D013586|ICD10:M12.2|EFO:1001106|GARD:0007396|Orphanet:66627|ICD9:719.20|DOID:2702|ICD10:M12.20|UMLS:C0039106|COHD:81382|DOID:9898|SCTID:95412009|ICD9:719.28 Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment. SNOMEDCT:95412009|DOID:9898|UMLS:C0039106|MESH:D013586|ORPHA:66627|DOID:2702 http://purl.obolibrary.org/obo/MONDO_0006906 localized pigmented villonodular synovitis|diffuse-type giant cell tumor|TGCT|villous tenosynovitis|diffuse pigmented villonodular synovitis|tenosynovial giant cell tumors|diffuse Giant cell tumor of Tenosynovium|villonodular synovitis|diffuse-type GCT|TSGCT|tenosynovial giant cell tumor ordo_disease|gard_rare UBERON:0003552 telencephalon pia mater biolink:AnatomicalEntity mondo A pia mater that is part of a telencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003552 pia mater of neuraxis of telencephalon|telencephalon pia mater of neuraxis|pia mater of telencephalon MONDO:0006925 Fusobacteriaceae infectious disease biolink:Disease mondo MESH:D045825|EFO:1001126|UMLS:C1258222 Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria. MESH:D045825|UMLS:C1258222 http://purl.obolibrary.org/obo/MONDO_0006925 Fusobacteriaceae infection|Fusobacteriaceae disease or disorder|Fusobacteriaceae caused disease or disorder|infection, Fusobacteriaceae|infections, Fusobacteriaceae FOODON:03412611 obsolete: doe (goat) biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03412611 MONDO:0006926 haemophilus infectious disease biolink:Disease mondo NCIT:C34654|EFO:1001127|MESH:D006192|SCTID:41659003 Infections with bacteria of the genus haemophilus. SNOMEDCT:41659003|NCIT:C34654|MESH:D006192 http://purl.obolibrary.org/obo/MONDO_0006926 infections, Haemophilus|infection, Haemophilus|infection, Hemophilus|Haemophilus disease or disorder|Haemophilus infectious disease|haemophilus infectious disease|infections, Hemophilus|Haemophilus caused disease or disorder|Hemophilus infection|Haemophilus infection|Hemophilus infections MONDO:0006923 Bacillaceae infectious disease biolink:Disease mondo EFO:1001124|UMLS:C0085389|MESH:D016863 Infections with bacteria of the family bacillaceae. UMLS:C0085389|MESH:D016863 http://purl.obolibrary.org/obo/MONDO_0006923 infections, Bacillaceae|Bacillaceae caused disease or disorder|infection, Bacillaceae|Bacillaceae disease or disorder|Bacillaceae infection GO:0045260 plasma membrane proton-transporting ATP synthase complex biolink:OntologyClass mondo A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species. http://purl.obolibrary.org/obo/GO_0045260 hydrogen-transporting ATP synthase|hydrogen-translocating F-type ATPase complex|proton-transporting ATP synthase complex|plasma membrane hydrogen-translocating F-type ATPase complex MONDO:0006924 Bartonellaceae infectious disease biolink:Disease mondo EFO:1001125|UMLS:C0004773|MESH:D001476 Infections with bacteria of the family bartonellaceae. MESH:D001476|UMLS:C0004773 http://purl.obolibrary.org/obo/MONDO_0006924 Bartonellaceae caused disease or disorder|infection, Bartonellaceae|Bartonellaceae disease or disorder|infections, Bartonellaceae|Bartonellaceae infection MONDO:0006921 Actinomycetales infectious disease biolink:Disease mondo UMLS:C0001255|NCIT:C84534|SCTID:721751007|ICD9:039.8|EFO:1001122|SCTID:11817007|ICD9:039.9|MESH:D000193 Infections with bacteria of the order actinomycetales. UMLS:C0001255|MESH:D000193|SNOMEDCT:11817007|SNOMEDCT:721751007|NCIT:C84534 http://purl.obolibrary.org/obo/MONDO_0006921 actinomycotic infection|Infections, Actinomycete|Actinomycetales disease or disorder|Actinomycete Infection|Actinomycetales Infections|Actinomycete Infections|infections, Actinomycetales|Actinomycetales caused disease or disorder|infection, Actinomycetales|actinomycetales infection|Infection caused by Actinomycetales|Actinomycetales infection|infection, actinomycete|Infections, Actinomycetales|actinomycosis|infections, actinomycete|infection caused by actinomycetales|Infection, Actinomycetales|Actinomycetales Infection|actinomycetales infection|actinomycete infection|actinomycete infections|actinomycotic infectious disease|Infection, Actinomycete UBERON:0003539 left lung bronchiole biolink:AnatomicalEntity mondo A bronchiole that is part of a left lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003539 lobular bronchiole of left lung|left lung lobular bronchiole|bronchiole of left lung MONDO:0006922 Anaplasmataceae infectious disease biolink:Disease mondo SCTID:422167001|EFO:1001123|MESH:D000711 Infections with bacteria of the family anaplasmataceae. SNOMEDCT:422167001|MESH:D000711 http://purl.obolibrary.org/obo/MONDO_0006922 infections, Anaplasmataceae|Haemobartonellosis|Anaplasmataceae disease or disorder|infection, Anaplasmataceae|Anaplasmataceae infection|Anaplasmataceae caused disease or disorder|Haemobartonelloses UBERON:0003537 left lung alveolar duct biolink:AnatomicalEntity mondo An alveolar duct that is part of a left lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003537 alveolar duct of left lung MONDO:0006920 prediabetes syndrome biolink:Disease mondo EFO:1001121|MESH:D011236|UMLS:C0362046|NCIT:C122685|DOID:11716|ICD10:R73.09|MedDRA:10065542 A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes. NCIT:C122685|MESH:D011236|DOID:11716|UMLS:C0362046 http://purl.obolibrary.org/obo/MONDO_0006920 prediabetes|borderline diabetes|prediabetic state GO:1901999 homogentisate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving homogentisate. http://purl.obolibrary.org/obo/GO_1901999 homogentisate metabolism UBERON:0003538 right lung bronchiole biolink:AnatomicalEntity mondo A bronchiole that is part of a right lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003538 bronchiole of right lung|lobular bronchiole of right lung|right lung lobular bronchiole MONDO:0043905 pneumonitis biolink:Disease mondo NCIT:C113159|SCTID:205237003 An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. SNOMEDCT:205237003|NCIT:C113159 http://purl.obolibrary.org/obo/MONDO_0043905 pneumonitis|inflammation of lung parenchyma|lung parenchyma inflammation MONDO:0043904 leishmaniasis, diffuse cutaneous biolink:Disease mondo SCTID:38573008|MESH:D016774 A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement. MESH:D016774|SNOMEDCT:38573008 http://purl.obolibrary.org/obo/MONDO_0043904 leproid leishmaniasis|cutaneous Leishmaniases, diffuse|diffuse cutaneous leishmaniasis|cheloid leishmaniasis|Leishmaniases, diffuse cutaneous|diffuse cutaneous Leishmaniases|lepromatous cutaneous leishmaniasis|dcl - diffuse cutaneous leishmaniasis|cutaneous leishmaniasis, diffuse UBERON:0003547 brain meninx biolink:AnatomicalEntity mondo A meninx that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003547 meninges of brain|meninx of brain|brain meninges UBERON:0003544 brain white matter biolink:AnatomicalEntity mondo The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter of neuraxis|brain white substance|white matter of neuraxis of brain|white matter of brain|white substance of brain UBERON:0003542 right lung respiratory bronchiole biolink:AnatomicalEntity mondo A respiratory bronchiole that is part of a right lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003542 right lung bronchiolus respiratorius|respiratory bronchiole of right lung|bronchiolus respiratorius of right lung MONDO:0006918 posterior uveitis biolink:Disease mondo EFO:1001119|MESH:D015866|DOID:12574|SCTID:43363007|MedDRA:10036370|GARD:0004457 Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. MESH:D015866|SNOMEDCT:43363007|DOID:12574 http://purl.obolibrary.org/obo/MONDO_0006918 uveitis, posterior|inflammation of chorioretinal region|chorioretinal region inflammation gard_rare UBERON:0003543 left lung respiratory bronchiole biolink:AnatomicalEntity mondo A respiratory bronchiole that is part of a left lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003543 bronchiolus respiratorius of left lung|respiratory bronchiole of left lung|left lung bronchiolus respiratorius MONDO:0006919 potassium deficiency biolink:Disease mondo MedDRA:10036445|EFO:1001120|MESH:D011191 A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed) MESH:D011191 http://purl.obolibrary.org/obo/MONDO_0006919 GO:0070201 regulation of establishment of protein localization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. http://purl.obolibrary.org/obo/GO_0070201 regulation of establishment of protein localisation MONDO:0006916 postcholecystectomy syndrome biolink:Disease mondo ICD10:K91.5|EFO:1001117|DOID:9740|UMLS:C0152099|SCTID:90782003|ICD9:576.0|MESH:D017562|COHD:200444 Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal. DOID:9740|UMLS:C0152099|SNOMEDCT:90782003|MESH:D017562 http://purl.obolibrary.org/obo/MONDO_0006916 UBERON:0003540 right lung terminal bronchiole biolink:AnatomicalEntity mondo A terminal bronchiole that is part of a right lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003540 right lung bronchiolus terminalis|terminal bronchiole of right lung|bronchiolus terminalis of right lung UBERON:0003541 left lung terminal bronchiole biolink:AnatomicalEntity mondo A terminal bronchiole that is part of a left lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003541 bronchiolus terminalis of left lung|left lung bronchiolus terminalis|terminal bronchiole of left lung MONDO:0006917 posterior cerebral artery infarction biolink:Disease mondo UMLS:C0752132|EFO:1001118|MESH:D020762|DOID:3821 Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia). MESH:D020762|UMLS:C0752132|DOID:3821 http://purl.obolibrary.org/obo/MONDO_0006917 SO:0002300 unit_of_gene_expression biolink:SequenceFeature mondo Transcription units or transcribed coding sequences. http://purl.obolibrary.org/obo/SO_0002300 unit of gene expression MONDO:0004317 multiple spinal canal and spinal cord meningioma biolink:Disease mondo UMLS:C1334825|NCIT:C5275|DOID:7646 Multiple meningiomas that arises from the spinal meninges. NCIT:C5275|DOID:7646|UMLS:C1334825 http://purl.obolibrary.org/obo/MONDO_0004317 multiple spinal canal and spinal cord Meningiomas|multiple intraspinal Meningiomas|multiple Meningiomas of spinal canal and spinal cord|multiple meningiomas of the spinal canal and spinal cord UBERON:0015593 frontal gyrus biolink:AnatomicalEntity mondo A gyrus that is part of a frontal cortex. http://purl.obolibrary.org/obo/UBERON_0015593 MONDO:0004316 acantholytic squamous cell skin carcinoma biolink:Disease mondo DOID:7643|UMLS:C0345979|SCTID:254654004|NCIT:C4460 A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis. NCIT:C4460|SNOMEDCT:254654004|DOID:7643|UMLS:C0345979 http://purl.obolibrary.org/obo/MONDO_0004316 acantholytic squamous cell carcinoma of skin|acantholytic squamous cell skin carcinoma|acantholytic squamous cell carcinoma of the skin MONDO:0006978 splenic infarction biolink:Disease mondo SCTID:22996003|DOID:2533|UMLS:C0037998|ICD10:D73.5|EFO:1001190|MedDRA:10041648|GARD:0009973|ICD9:289.59|COHD:4044745|MESH:D013159 Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed) UMLS:C0037998|SNOMEDCT:22996003|DOID:2533|MESH:D013159 http://purl.obolibrary.org/obo/MONDO_0006978 splenic infarcts|infarct of the spleen|splenic infarct|splenic infarction MONDO:0004319 hypercalcemic type ovarian small cell carcinoma biolink:Disease mondo NCIT:C40439|DOID:7651|UMLS:C1518736 An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers. UMLS:C1518736|DOID:7651|NCIT:C40439 http://purl.obolibrary.org/obo/MONDO_0004319 SCCOHT|ovarian small cell carcinoma, hypercalcemic type GO:0045271 respiratory chain complex I biolink:OntologyClass mondo Respiratory chain complex I is an enzyme of the respiratory chain. It consists of several polypeptide chains and is L-shaped, with a horizontal arm lying in the membrane and a vertical arm that projects into the matrix. The electrons of NADH enter the chain at this complex. http://purl.obolibrary.org/obo/GO_0045271 electron transport complex I|NADH-Q oxidoreductase complex|NADH dehydrogenase (ubiquinone) complex|NADH dehydrogenase complex (ubiquinone) MONDO:0004318 pulmonary type ovarian small cell carcinoma biolink:Disease mondo UMLS:C1518737|NCIT:C40440|DOID:7650 An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung. UMLS:C1518737|DOID:7650|NCIT:C40440 http://purl.obolibrary.org/obo/MONDO_0004318 ovarian small cell carcinoma, pulmonary type GO:0045272 plasma membrane respiratory chain complex I biolink:OntologyClass mondo A subcomplex of the respiratory chain located in the plasma membrane. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. Examples of this component are found in bacterial species. http://purl.obolibrary.org/obo/GO_0045272 NADH dehydrogenase (ubiquinone) complex|respiratory chain complex I MONDO:0006979 steatitis biolink:Disease mondo DOID:4025|EFO:1001191|SCTID:33882007|UMLS:C0038235|MESH:D013231 A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed) SNOMEDCT:33882007|MESH:D013231|DOID:4025|UMLS:C0038235 http://purl.obolibrary.org/obo/MONDO_0006979 MONDO:0006976 somatostatinoma biolink:Disease mondo MESH:D013005|ICD9:235.5|ICDO:8156/1|UMLS:C0037661|Orphanet:97283|NCIT:C3379|SCTID:253006001|GARD:0004900|MedDRA:10041329|DOID:4430|EFO:1001187|ICD10:E16.8 A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1. SNOMEDCT:253006001|NCIT:C3379|MEDDRA:10041329|MESH:D013005|ORPHA:97283|DOID:4430|UMLS:C0037661 http://purl.obolibrary.org/obo/MONDO_0006976 ampullary somatostatinoma|carcinoid somatostatinoma|somatostatin-producing tumor|somatostatin cell neoplasm|tumor of the Delta cells|somatostatin-producing NET|tumor of Delta cells|somatostatin producing tumor|Somatomedin-secreting carcinoid|malignant islet cell tumor|somatostatinoma|somatostatin-producing neuroendocrine tumor|somatostatin cell tumor|somatostatin cell tumour|Delta cell tumor|somatostatin-secreting pancreatic neoplasm gard_rare|ordo_disease MONDO:0004313 gasserian ganglion meningioma biolink:Disease mondo NCIT:C6779|UMLS:C1333760|DOID:7635 A meningioma that affects the trigeminal ganglion. NCIT:C6779|DOID:7635|UMLS:C1333760 http://purl.obolibrary.org/obo/MONDO_0004313 Gasserian meningioma|meningioma (disease) of gasserian ganglion|meningioma of the Gasserian ganglion|meningioma of Gasserian ganglion|gasserian ganglion meningioma (disease) MONDO:0006977 spermatocele biolink:Disease mondo ICD10:N50.3|MedDRA:10041490|UMLS:C0037859|ICD9:608.1|MESH:D013088|SCTID:49263001|ICD10:N43.4|COHD:197601|DOID:11997|EFO:1001189|ICD10:N43.40 A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris. DOID:11997|NCIT:C3865|MESH:D013088|SNOMEDCT:49263001|UMLS:C0037859|NCIT:C120909 http://purl.obolibrary.org/obo/MONDO_0006977 MONDO:0004312 suprasellar meningioma biolink:Disease mondo NCIT:C6776|DOID:7634|UMLS:C1336535 A meningioma that affects the suprasellar region. NCIT:C6776|UMLS:C1336535|DOID:7634 http://purl.obolibrary.org/obo/MONDO_0004312 sella turcica meningioma (disease)|meningioma (disease) of sella turcica MONDO:0006974 small cell sarcoma biolink:Disease mondo DOID:3098|EFO:1001184|MESH:D018228|UMLS:C0206652|ICDO:8803/3|NCIT:C3746 A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. NCIT:C3746|DOID:3098|UMLS:C0206652|MESH:D018228 http://purl.obolibrary.org/obo/MONDO_0006974 small cell sarcomas|small cell sarcoma MONDO:0004315 cholangiolocellular carcinoma biolink:Disease mondo DOID:7642|NCIT:C41617|UMLS:C1516490 An intrahepatic cholangiocarcinoma that arises from the canals of Hering. UMLS:C1516490|NCIT:C41617|DOID:7642 http://purl.obolibrary.org/obo/MONDO_0004315 CLC|intralobular bile duct cholangiocarcinoma|cholangiolocellular carcinoma|cholangiocarcinoma of intralobular bile duct MONDO:0006975 smooth muscle tumor biolink:Disease mondo EFO:1001185|NCIT:C3751|MESH:D018235|UMLS:C0206658|DOID:4310 A benign or malignant myomatous neoplasm arising from smooth muscle. MESH:D018235|NCIT:C3751|DOID:4310|UMLS:C0206658 http://purl.obolibrary.org/obo/MONDO_0006975 neoplasm of smooth muscle|smooth muscle tumor|tumor of the smooth muscle|tumor of smooth muscle|neoplasm of the smooth muscle|smooth muscle neoplasm MONDO:0004314 malignant cutaneous granular cell skin tumor biolink:Disease mondo DOID:7639|UMLS:C1334575|NCIT:C5614 NCIT:C5614|UMLS:C1334575|DOID:7639 http://purl.obolibrary.org/obo/MONDO_0004314 malignant granular cell tumor of skin|malignant cutaneous granular cell tumor|malignant granular cell tumor of the skin|malignant granular cell skin neoplasm|malignant granular cell neoplasm of skin|malignant granular cell neoplasm of the skin|malignant granular cell skin tumor MONDO:0006972 silo filler disease biolink:Disease mondo EFO:1001182|DOID:4374|SCTID:61233003|MESH:D012832|UMLS:C0037120 A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage. UMLS:C0037120|DOID:4374|SNOMEDCT:61233003|MESH:D012832 http://purl.obolibrary.org/obo/MONDO_0006972 silo filler disease|silo-fillers' disease|silo filler's disease MONDO:0006973 skin appendage carcinoma biolink:Disease mondo EFO:1001183|NCIT:C3775|ONCOTREE:SKAC|MESH:D018280|UMLS:C0206697|ICDO:8390/3|MedDRA:10040798 A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma. NCIT:C3775|UMLS:C0206697|MESH:D018280 http://purl.obolibrary.org/obo/MONDO_0006973 skin appendage carcinoma|skin adnexal carcinoma|carcinoma of adnexa|carcinoma of skin appendage|carcinoma of cutaneous appendage|cutaneous appendage carcinoma|adnexal carcinoma|carcinoma, adnexal, malignant MONDO:0004311 carcinoma of Cowper glands biolink:Disease mondo DOID:7632|UMLS:C1516284|NCIT:C39864 A carcinoma that involves the bulbo-urethral gland. NCIT:C39864|UMLS:C1516284|DOID:7632 http://purl.obolibrary.org/obo/MONDO_0004311 carcinoma of Cowper glands|carcinoma of bulbo-urethral gland|Cowper gland carcinoma|bulbo-urethral gland carcinoma MONDO:0006970 sialolithiasis biolink:Disease mondo EFO:1001180|MESH:D015494|ICD10:K11.5|ICD9:527.5|DOID:12905|MedDRA:10040631|UMLS:C0036091|COHD:30441|SCTID:28826002 A concretion in the salivary gland. DOID:12905|MESH:D015494|UMLS:C0036091|SNOMEDCT:28826002|NCIT:C34994 http://purl.obolibrary.org/obo/MONDO_0006970 sialolith|Stone of salivary gland or duct|salivary gland Stone MONDO:0006971 sigmoid neoplasm biolink:Disease mondo SCTID:126845000|EFO:1001181|MedDRA:10026456|MESH:D012811|UMLS:C0037073|ICD9:153.3|DOID:1896 Tumors or cancer of the sigmoid colon. DOID:1896|SNOMEDCT:126845000|UMLS:C0037073|MESH:D012811 http://purl.obolibrary.org/obo/MONDO_0006971 sigmoid colon neoplasm|tumor of sigmoid colon|sigmoid colon neoplasm (disease)|neoplasm of sigmoid colon|sigmoid colon tumor MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered biolink:Disease mondo DOID:7631|NCIT:C8290|UMLS:C0281330 An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. DOID:7631|NCIT:C8290|UMLS:C0281330 http://purl.obolibrary.org/obo/MONDO_0004310 embryonal tumor with Multilayered Rosettes, C19MC-altered|adult embryonal tumor with Multilayered Rosettes, C19MC-altered|adult ependymoblastoma|ependymoblastoma of adults GO:0045275 respiratory chain complex III biolink:OntologyClass mondo A protein complex that transfers electrons from ubiquinol to cytochrome c and translocates two protons across a membrane. The complex contains a core structure of three catalytic subunits: cytochrome b, the Rieske iron sulfur protein (ISP), and cytochrome c1, which are arranged in an integral membrane-bound dimeric complex; additional subunits are present, and vary among different species. http://purl.obolibrary.org/obo/GO_0045275 coenzyme Q-cytochrome c reductase complex|CoQH2-cytochrome c reductase complex|coenzyme Q-cytochrome c oxidoreductase complex|electron transport complex III|cytochrome bc1 complex|ubiquinol-cytochrome-c reductase complex|ubiquinol-cytochrome c oxidoreductase complex|cytochrome bc(1) complex|complex III GO:0045276 plasma membrane respiratory chain complex III biolink:OntologyClass mondo A part of the respiratory chain located in the plasma membrane, containing about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. Examples of this component are found in bacterial species. http://purl.obolibrary.org/obo/GO_0045276 plasma membrane ubiquinol-cytochrome-c reductase complex|respiratory chain complex III|plasma membrane coenzyme Q-cytochrome c oxidoreductase complex|ubiquinol-cytochrome-c reductase complex|ubiquinol-cytochrome c oxidoreductase complex|plasma membrane coenzyme Q-cytochrome c reductase complex|plasma membrane cytochrome bc1 complex MONDO:0018969 craniorachischisis (disease) biolink:Disease mondo HP:0030770|ICD9:740.1|GARD:0010504|COHD:372727|Orphanet:63260|ICD10:Q00.1|UMLS:C0152426|MedDRA:10011321|NCIT:C98907|SCTID:32219008 Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. NCIT:C98907|ORPHA:63260|UMLS:C0152426|MEDDRA:10011321|SNOMEDCT:32219008 http://purl.obolibrary.org/obo/MONDO_0018969 cranial rachischisis|craniorachischisis ordo_morphological_anomaly MONDO:0016306 Niemann-Pick disease type C, severe perinatal form biolink:Disease mondo Orphanet:216972|UMLS:CN201112|ICD10:E75.2 ORPHA:216972|UMLS:CN201112 http://purl.obolibrary.org/obo/MONDO_0016306 ordo_clinical_subtype MONDO:0018968 iniencephaly biolink:Disease mondo ICD10:Q00.2|SCTID:2438005|ICD9:740.2|NCIT:C124549|UMLS:C0152234|GARD:0010506|COHD:378848|MedDRA:10022034|Orphanet:63259 Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system. NCIT:C124549|ORPHA:63259|UMLS:C0152234|SNOMEDCT:2438005|MEDDRA:10022034 http://purl.obolibrary.org/obo/MONDO_0018968 ordo_morphological_anomaly|gard_rare MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset biolink:Disease mondo Orphanet:216975|ICD10:E75.2|UMLS:CN201113 UMLS:CN201113|ORPHA:216975 http://purl.obolibrary.org/obo/MONDO_0016307 ordo_clinical_subtype MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset biolink:Disease mondo ICD10:E75.2|UMLS:CN201114|Orphanet:216978 ORPHA:216978|UMLS:CN201114 http://purl.obolibrary.org/obo/MONDO_0016308 ordo_clinical_subtype MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset biolink:Disease mondo Orphanet:216981|UMLS:CN201115|ICD10:E75.2 UMLS:CN201115|ORPHA:216981 http://purl.obolibrary.org/obo/MONDO_0016309 Niemann-Pick disease type C, classic form ordo_clinical_subtype MONDO:0018965 Alport syndrome biolink:Disease mondo Orphanet:63|DOID:10983|ICD10:Q87.8|MedDRA:10001843|UMLS:C1567741|OMIMPS:301050|NCIT:C34842|ICD10:Q87.81 A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. ORPHA:63|MEDDRA:10001843|DOID:10983|MESH:D009394|UMLS:C1567741|NCIT:C34842 http://purl.obolibrary.org/obo/MONDO_0018965 hereditary nephritis|Alport's syndrome|Alport deafness-nephropathy ordo_disease MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries biolink:Disease mondo Orphanet:216718|ICD10:Q20.3 ORPHA:216718 http://purl.obolibrary.org/obo/MONDO_0016302 isolated congenitally uncorrected transposition of the great vessels ordo_clinical_subtype MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation biolink:Disease mondo Orphanet:216729|ICD10:Q20.3 ORPHA:216729 http://purl.obolibrary.org/obo/MONDO_0016303 congenitally uncorrected transposition of the great vessels with cardiac malformation|TGA with cardiac malformation ordo_clinical_subtype MONDO:0018964 homocystinuria without methylmalonic aciduria biolink:Disease mondo SCTID:721225009|ICD10:E72.1|UMLS:C4303479|Orphanet:622 Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). ORPHA:622|SNOMEDCT:721225009|UMLS:C4303479 http://purl.obolibrary.org/obo/MONDO_0018964 methylcobalamin deficiency|functional methionine synthase deficiency|homocystinuria without methylmalonic aciduria ordo_disease MONDO:0016304 classic pantothenate kinase-associated neurodegeneration biolink:Disease mondo UMLS:CN201109|Orphanet:216866|ICD10:G23.0 ORPHA:216866|UMLS:CN201109 http://purl.obolibrary.org/obo/MONDO_0016304 PKAN, classic form|neurodegeneration with brain iron accumulation type 1, classic form|NBIA1, classic form ordo_clinical_subtype MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia biolink:Disease mondo Orphanet:632|ICD10:E23.0 ORPHA:632 http://purl.obolibrary.org/obo/MONDO_0018967 ordo_clinical_subtype MONDO:0018966 obsolete isolated growth hormone deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018966 MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration biolink:Disease mondo UMLS:CN201110|Orphanet:216873|ICD10:G23.0 ORPHA:216873|UMLS:CN201110 http://purl.obolibrary.org/obo/MONDO_0016305 neurodegeneration with brain iron accumulation type 1, atypical form|PKAN, atypical form|NBIA1, atypical form ordo_clinical_subtype MONDO:0018961 familial melanoma biolink:Disease mondo UMLS:C2314896|GARD:0003460|NCIT:C8498|Orphanet:618|ICD10:C43.8|ICD10:C43.7|DOID:6846|ICD10:C43.6|ICD10:C43.5|ICD10:C43.4|ICD10:C43.3|ICD10:C43.2|ICD10:C43.1|ICD10:C43.0 Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. DOID:6846|NCIT:C8498|ORPHA:618|UMLS:C2314896 http://purl.obolibrary.org/obo/MONDO_0018961 hereditary melanoma (disease) gard_rare|ordo_disease MONDO:0018960 congenital primary megaureter biolink:Disease mondo GARD:0001492|GARD:0000219|SCTID:717459000|Orphanet:617|ICD10:Q62.2 Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. SNOMEDCT:717459000|ORPHA:617 http://purl.obolibrary.org/obo/MONDO_0018960 congenital megalo-ureter|congenital giant megaureter|congenital primary megalo-ureter|CGM ordo_morphological_anomaly|gard_rare MONDO:0018963 hereditary methemoglobinemia biolink:Disease mondo SCTID:267550008|NCIT:C98898|ICD10:D74.0|GARD:0002659|UMLS:C0272087|MESH:C580280|Orphanet:621 Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. SNOMEDCT:267550008|NCIT:C98898|UMLS:C0272087|ORPHA:621|MESH:C580280 http://purl.obolibrary.org/obo/MONDO_0018963 autosomal recessive methemoglobinemia|hereditary methemoglobinemia|congenital methemoglobinemia ordo_disease MONDO:0016300 obsolete transposition of the great arteries biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016300 MONDO:0016301 congenitally corrected transposition of the great arteries biolink:Disease mondo UMLS:C3274488|SCTID:83799000|Orphanet:216694|MESH:C535426|ICD10:Q20.5|ICD9:745.12|MedDRA:10011120|GARD:0001544|NCIT:C98902 Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. NCIT:C98902|UMLS:C3274488|ORPHA:216694|MEDDRA:10011120|SNOMEDCT:83799000|UMLS:C0344616|MESH:C535426 http://purl.obolibrary.org/obo/MONDO_0016301 levo-transposition of the great vessels|transposition of the great arteries, congenitally corrected|L-transposition of the great arteries|ventricular inversion|transposition of the great vessels, congenitally corrected|discordant ventriculoarterial and atrioventricular connections|L-transposition of the great vessels|Double discordance|ventriculoarterial and atrioventricular discordance|levo-transposition of the great arteries|congenitally corrected transposition of the great vessels ordo_morphological_anomaly|gard_rare MONDO:0018962 common mesentery biolink:Disease mondo ICD10:Q43.3|UMLS:C0266235|SCTID:52159006|Orphanet:620 UMLS:C0266235|ORPHA:620|SNOMEDCT:52159006 http://purl.obolibrary.org/obo/MONDO_0018962 universal mesentery ordo_morphological_anomaly MONDO:0004309 sarcomatosis biolink:Disease mondo DOID:7615|NCIT:C4243|ICDO:8800/9|UMLS:C0334451 The occurrence of several sarcomas in different anatomic locations. NCIT:C4243|UMLS:C0334451|DOID:7615 http://purl.obolibrary.org/obo/MONDO_0004309 sarcomatosis NOS (morphologic abnormality)|sarcomatosis (morphologic abnormality)|sarcomatosis MONDO:0004328 maxillary sinus adenocarcinoma biolink:Disease mondo SCTID:707339009|NCIT:C6240|UMLS:C1334642|DOID:7684 An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs. SNOMEDCT:707339009|NCIT:C6240|UMLS:C1334642|DOID:7684 http://purl.obolibrary.org/obo/MONDO_0004328 adenocarcinoma of maxillary sinus|maxillary sinus adenocarcinoma|adenocarcinoma of the maxillary sinus MONDO:0004327 sphenoid sinus Schneiderian papilloma biolink:Disease mondo NCIT:C6838|UMLS:C1336038|DOID:7679 A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma. UMLS:C1336038|NCIT:C6838|DOID:7679 http://purl.obolibrary.org/obo/MONDO_0004327 Schneiderian papilloma of the sphenoid sinus|Schneiderian papilloma of sphenoid sinus|sphenoid sinus Schneiderian papilloma MONDO:0006989 suppurative periapical periodontitis biolink:Disease mondo MESH:D010482|UMLS:C0031024|DOID:2562|EFO:1001202|NCIT:C34913 Localized collection of pus in the tissues that enclose the root of a tooth. MESH:D010482|DOID:2562|UMLS:C0031024|NCIT:C34913 http://purl.obolibrary.org/obo/MONDO_0006989 periapical dental abscess|apical abscess|suppurative apical periodontitis|periapical abscess|dentoalveolar abscess MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia biolink:Disease mondo ICDO:8453/2|UMLS:C1518873|DOID:7685|NCIT:C41251 A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present. UMLS:C1518873|NCIT:C41251|DOID:7685 http://purl.obolibrary.org/obo/MONDO_0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia|pancreatic non-invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia MONDO:0004324 testicular fibroma biolink:Disease mondo DOID:7675|UMLS:C1515282|NCIT:C39951 A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization. NCIT:C39951|UMLS:C1515282|DOID:7675 http://purl.obolibrary.org/obo/MONDO_0004324 MONDO:0006987 subvalvular aortic stenosis biolink:Disease mondo DOID:5805|GARD:0005052|MedDRA:10042431|SCTID:204368006|UMLS:C0340375|EFO:1001199|MESH:D001020 An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects. UMLS:C0340375|MESH:D001020|DOID:5805|SNOMEDCT:204368006|NCIT:C85172 http://purl.obolibrary.org/obo/MONDO_0006987 gard_rare MONDO:0006988 sulfhemoglobinemia biolink:Disease mondo DOID:12451|MESH:D013436|EFO:1001200|SCTID:32117000|UMLS:C0038732|MedDRA:10042481 A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed) DOID:12451|SNOMEDCT:32117000|MESH:D013436|UMLS:C0038732 http://purl.obolibrary.org/obo/MONDO_0006988 Sulfemoglobinemia MONDO:0004323 muscular atrophy biolink:Disease mondo ICD9:728.2|SCTID:88092000|DOID:767|MESH:D009133 The loss of muscle tissue due to inactivity or disease. MESH:D009133|NCIT:C94834|DOID:767|SNOMEDCT:88092000 http://purl.obolibrary.org/obo/MONDO_0004323 wasting - muscle|muscle wasting|amyotrophia MONDO:0004326 sphenoid sinus inverted papilloma biolink:Disease mondo UMLS:C1336037|NCIT:C6841|DOID:7678 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. UMLS:C1336037|NCIT:C6841|DOID:7678 http://purl.obolibrary.org/obo/MONDO_0004326 sphenoidal sinus inverted papilloma|inverted papilloma of the sphenoid sinus|inverted papilloma of sphenoid sinus MONDO:0006985 obsolete subependymoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006985 MONDO:0006986 substernal goiter biolink:Disease mondo MESH:D006045|DOID:13200|UMLS:C0018024|SCTID:66392007|EFO:1001198 An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms. SNOMEDCT:66392007|DOID:13200|MESH:D006045|UMLS:C0018024 http://purl.obolibrary.org/obo/MONDO_0006986 retrosternal thyroid goiter MONDO:0004325 testicular thecoma biolink:Disease mondo DOID:7676|UMLS:C1515299|NCIT:C39952 A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells. NCIT:C39952|UMLS:C1515299|DOID:7676 http://purl.obolibrary.org/obo/MONDO_0004325 thecoma of testis|testis thecoma MONDO:0006983 subclavian steal syndrome biolink:Disease mondo DOID:13002|UMLS:C0038531|MESH:D013349|COHD:433505|SCTID:15258001|EFO:1001195|NCIT:C35044|ICD9:435.2|MedDRA:10042335 An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention. NCIT:C35044|MESH:D013349|UMLS:C0038531|SNOMEDCT:15258001|DOID:13002 http://purl.obolibrary.org/obo/MONDO_0006983 subclavian steal phenomenon|subclavian steal steno-occlusive disease|subclavian artery stenosis MONDO:0004320 adult infiltrating astrocytic neoplasm biolink:Disease mondo UMLS:C0281329|NCIT:C8289|DOID:7656 DOID:7656|NCIT:C8289|UMLS:C0281329 http://purl.obolibrary.org/obo/MONDO_0004320 adult infiltrating astrocytoma|adult infiltrating astrocytic tumor|adult infiltrating astrocytic neoplasm MONDO:0006984 subdural empyema biolink:Disease mondo MESH:D013354|UMLS:C0038539|SCTID:37660004|MedDRA:10042360|EFO:1001196|DOID:11389 An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid. SNOMEDCT:37660004|MESH:D013354|UMLS:C0038539|DOID:11389 http://purl.obolibrary.org/obo/MONDO_0006984 subdural abscess MONDO:0006981 subacute bacterial endocarditis biolink:Disease mondo SCTID:73774007|MESH:D004698|NCIT:C34583|MedDRA:10042271|UMLS:C0014122|DOID:4562|EFO:1001193 Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation. SNOMEDCT:73774007|MESH:D004698|UMLS:C0014122|NCIT:C34583|DOID:4562 http://purl.obolibrary.org/obo/MONDO_0006981 Subacute endocarditis, lenta|SBE|SBE - Subacute bacterial endocarditis|Subacute bacterial endocarditis|endocarditis lenta MONDO:0004322 non-gestational ovarian choriocarcinoma biolink:Disease mondo NCIT:C39991|DOID:7665|UMLS:C1518355 A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma. NCIT:C39991|DOID:7665|UMLS:C1518355 http://purl.obolibrary.org/obo/MONDO_0004322 MONDO:0006982 subacute thyroiditis biolink:Disease mondo UMLS:C0040149|MedDRA:10042298|DOID:7165|ICD10:E06.1|COHD:132579|MESH:D013968|ICD9:245.1|SCTID:428041004|EFO:1001194|NCIT:C35828 Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. DOID:7165|NCIT:C35828|MESH:D013968|UMLS:C0040149|SNOMEDCT:428041004 http://purl.obolibrary.org/obo/MONDO_0006982 granulomatous thyroiditis|Subacute granulomatous thyroiditis|De Quervain's thyroiditis|DeQuervain thyroiditis|de Quervain's thyroiditis|De Quervain thyroiditis|giant-cell thyroiditis|Subacute thyroiditis MONDO:0004321 endometrial mixed adenocarcinoma biolink:Disease mondo UMLS:C1516856|NCIT:C40153|DOID:7664 An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor. NCIT:C40153|UMLS:C1516856|DOID:7664 http://purl.obolibrary.org/obo/MONDO_0004321 endometrial mixed adenocarcinoma MONDO:0006980 struma ovarii biolink:Disease mondo NCIT:C7468|MESH:D013330|ICDO:9090/0|UMLS:C0038478|DOID:2640|EFO:1001192 An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion). MESH:D013330|UMLS:C0038478|NCIT:C7468|DOID:2640 http://purl.obolibrary.org/obo/MONDO_0006980 struma ovarii NOS (morphologic abnormality)|struma ovarii (morphologic abnormality)|struma ovarii UBERON:2001364 hemal spine biolink:AnatomicalEntity mondo Hemal spines are extensions of hemal arches in the ventral skeletogenous septum of the caudal region. http://purl.obolibrary.org/obo/UBERON_2001364 hémacanthe|épine hémale|haemacanthe|haemal spine MONDO:0018958 nemaline myopathy biolink:Disease mondo Orphanet:607|MESH:D017696|UMLS:C0206157|DOID:3191|OMIMPS:161800|SCTID:75072002|ICD10:G71.2|GARD:0012033 Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. DOID:3191|SNOMEDCT:75072002|MESH:D017696|UMLS:C0206157|ORPHA:607 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline rod disease|NEM|nemaline rod myopathy|Rod-body myopathy|congenital rod disease|Rod body disease|rod myopathy|nemaline body disease|NM ordo_group_of_disorders MONDO:0018957 pudendal neuralgia biolink:Disease mondo UMLS:CN226268|UMLS:C3178970|UMLS:C1997249|GARD:0010713|SCTID:427972000|Orphanet:60039|ICD10:M79.2|ICD9:729.2|MESH:D060545 Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction. UMLS:C1997249|SNOMEDCT:427972000|UMLS:CN226268|MESH:D060545|ORPHA:60039|UMLS:C3178970 http://purl.obolibrary.org/obo/MONDO_0018957 pudendal neuralgia by pudendal nerve entrapment|Alcock syndrome|neuralgia of pudendal nerve|pudendal nerve entrapment syndrome|pudendal nerve neuralgia|pudendal algia|Pudendalgia gard_rare|ordo_disease MONDO:0018959 potassium-aggravated myotonia biolink:Disease mondo SCTID:702355008|MONDO:0012026|MESH:C538353|Orphanet:612|NCIT:C122788|UMLS:C2931826|ICD10:G71.1|GARD:0004459|OMIM:608390 Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. ORPHA:612|UMLS:C2931826|MESH:C538353|NCIT:C122788|http://identifiers.org/omim/608390|SNOMEDCT:702355008 http://purl.obolibrary.org/obo/MONDO_0018959 Myotonia Permanens|K-aggravated myotonia|Myotonia Congenita, Atypical|Sodium Channel Muscle Disease|PAM|Potassium aggravated myotonia|Myotonia Congenita, Acetazolamide-Responsive|MYOTONIA, POTASSIUM-AGGRAVATED|Laryngospasm, Severe Neonatal Episodic|Myotonia Fluctuans|K+-aggravated myotonia ordo_group_of_disorders MONDO:0018954 Loeys-Dietz syndrome biolink:Disease mondo OMIMPS:609192|SCTID:446263001|ICD9:759.89|GARD:0010788|MESH:D055947|UMLS:C2697932|Orphanet:60030|DOID:0050466|NCIT:C75006|ICD10:Q87.4 Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. UMLS:C2697932|SNOMEDCT:446263001|ORPHA:60030|NCIT:C75006|MESH:D055947|DOID:0050466 http://purl.obolibrary.org/obo/MONDO_0018954 aortic aneurysm syndrome due to TGF-beta receptors anomalies|aortic aneurysm syndrome, Loeys-Dietz type clingen|ordo_malformation_syndrome CHEBI:10545 electron biolink:ChemicalSubstance mondo Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. http://purl.obolibrary.org/obo/CHEBI_10545 beta|e(-)|negatron|Elektron|e-|electron|e|beta(-)|beta-particle MONDO:0018953 parietal foramina biolink:Disease mondo DOID:0060285|HP:0002697|ICD10:Q75.8|MESH:C566826|OMIMPS:168500|SCTID:718099006|Orphanet:60015 Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. DOID:0060285|ORPHA:60015|MESH:C566826|SNOMEDCT:718099006 http://purl.obolibrary.org/obo/MONDO_0018953 catlin marks|enlarged parietal foramina|fenestrae parietales symmetricae|symmetric parietal foramina|hereditary cranium bifidum|foramina parietalia permagna|Caitlin marks ordo_malformation_syndrome MONDO:0018956 idiopathic bronchiectasis biolink:Disease mondo Orphanet:60033|SCTID:233629001|UMLS:C0339985|ICD10:J47 #160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies). UMLS:C0339985|SNOMEDCT:233629001|ORPHA:60033 http://purl.obolibrary.org/obo/MONDO_0018956 ordo_disease MONDO:0018955 recurrent respiratory papillomatosis biolink:Disease mondo GARD:0000111|Orphanet:60032|MESH:C535297|ICD9:078.19|NCIT:C128637|UMLS:C1168198|SCTID:472827002|MedDRA:10059314 Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive. UMLS:C1168198|SNOMEDCT:472827002|ORPHA:60032|MEDDRA:10059314|MESH:C535297|NCIT:C128637 http://purl.obolibrary.org/obo/MONDO_0018955 respiratory papillomatosis, recurrent|juvenile laryngeal papilloma|juvenile-onset recurrent respiratory papillomatosis (type)|laryngeal papilloma, recurrent|adult-onset recurrent respiratory papillomatosis (type)|JORRP (type)|RRP|AORRP (type)|recurrent respiratory papillomatosis ordo_disease|gard_rare MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency biolink:Disease mondo SCTID:13144005|UMLS:C0268600|UMLS:CN239165|ICD10:E71.1|NCIT:C98674|GARD:0010954|DOID:0050710|OMIMPS:210200|Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. NCIT:C98674|SNOMEDCT:13144005|UMLS:C0268600|UMLS:CN239165|ORPHA:6|DOID:0050710 http://purl.obolibrary.org/obo/MONDO_0018950 MCC deficiency|Methylcrotonyl-CoA carboxylase deficiency|3MCC deficiency|BMCC deficiency|3-methylcrotonylglycinuria|methylcrotonylglycinuria|MCCD|3-MCC deficiency ordo_disease MONDO:0018952 argyria biolink:Disease mondo MESH:D001129|MedDRA:10003094|ICD10:T56.8|Orphanet:60014 Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine). UMLS:C0003782|MESH:D001129|ORPHA:60014|MEDDRA:10003094 http://purl.obolibrary.org/obo/MONDO_0018952 Silver staining ordo_disease MONDO:0018951 distal myopathy with vocal cord weakness biolink:Disease mondo ICD10:G71.0|GARD:0001887|UMLS:CN205357|Orphanet:600 Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction. UMLS:CN205357|ORPHA:600 http://purl.obolibrary.org/obo/MONDO_0018951 VCPDM|distal myopathy 2|vocal cord and pharyngeal distal myopathy|MPD2|MATR3-related distal myopathy ordo_disease MONDO:0006958 obsolete SAPHO syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006958 MONDO:0006959 obsolete Schnitzler syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006959 MONDO:0006956 Rickettsiosis biolink:Disease mondo UMLS:C0035585|SCTID:37246009|MESH:D012282|EFO:1001162|ICD9:083.9|Orphanet:102021|MedDRA:10061495|NCIT:C34991 A group of infectious diseases that is caused by Rickettsia. MESH:D012282|NCIT:C34991|ORPHA:102021|UMLS:C0035585|SNOMEDCT:37246009 http://purl.obolibrary.org/obo/MONDO_0006956 Rickettsia infectious disease|Rickettsia caused disease or disorder|Rickettsiae disease|Rickettsia disease or disorder|Rickettsial disease|infection, Rickettsia|Rickettsial infectious disorder|infections, Rickettsia|Rickettsial infectious disease|Rickettsia infection|Rickettsiosis ordo_group_of_disorders MONDO:0006957 root caries biolink:Disease mondo MESH:D017213|SCTID:30512007|EFO:1001163|ICD9:521.08|DOID:14089|UMLS:C0162644 Dental caries involving the tooth root, cementum, or cervical area of the tooth. UMLS:C0162644|MESH:D017213|SNOMEDCT:30512007|DOID:14089 http://purl.obolibrary.org/obo/MONDO_0006957 dental caries of root surface|root caries|cementum dental caries|cementum caries|dental caries of cementum MONDO:0006954 obsolete rheumatic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006954 MONDO:0006955 rheumatic heart disease biolink:Disease mondo ICD9:398.90|COHD:319825|ICD10:I05.I09|EFO:1001161|MedDRA:10062110|DOID:0050827|MESH:D012214|SCTID:23685000|NCIT:C34882|ICD9:398.99 An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction. DOID:0050827|NCIT:C34882|SNOMEDCT:23685000|MESH:D012214 http://purl.obolibrary.org/obo/MONDO_0006955 RHD|heart disease, rheumatic|rheumatic carditis|disease, rheumatic heart MONDO:0006952 retinopathy of prematurity biolink:Disease mondo SCTID:415297005|Orphanet:90050|ICD10:H35.10|GARD:0005695|NCIT:C34982|COHD:373766|ICD10:H35.1|MedDRA:10038933|MESH:D012178|EFO:1001158|UMLS:C0035344|ICD9:362.21|ICD9:362.20|ICD10:H35.17|DOID:13025 A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. NCIT:C34982|SNOMEDCT:415297005|UMLS:C0035344|MEDDRA:10038933|ORPHA:90050|MESH:D012178|DOID:13025 http://purl.obolibrary.org/obo/MONDO_0006952 ROP|premature retinopathy|retrolental fibroplasia|Terry syndrome ordo_disease MONDO:0006953 Rh isoimmunization biolink:Disease mondo MedDRA:10039016|UMLS:C0035404|SCTID:44795003|EFO:1001159|DOID:4175 The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. NCIT:C113150|SNOMEDCT:44795003|UMLS:C0035404|DOID:4175 http://purl.obolibrary.org/obo/MONDO_0006953 Rh incompatibility affecting management of mother MONDO:0006950 retinal vasculitis biolink:Disease mondo ICD9:362.18|COHD:436403|SCTID:77628002|MedDRA:10038905|UMLS:C0152026|MESH:D031300|EFO:1001156|ICD10:H35.06|DOID:11563 Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis. SNOMEDCT:77628002|DOID:11563|UMLS:C0152026|MESH:D031300 http://purl.obolibrary.org/obo/MONDO_0006950 retinal vasculitis MONDO:0006951 retinal vein occlusion biolink:Disease mondo SCTID:46085004|MESH:D012170|UMLS:C0035328|MedDRA:10038907|EFO:1001157|NCIT:C34981|DOID:1727 An occlusion of the retinal vein. UMLS:C0035328|SNOMEDCT:46085004|DOID:1727|MESH:D012170|NCIT:C34981 http://purl.obolibrary.org/obo/MONDO_0006951 occlusion, of retinal vein|retinal vein occlusion MONDO:0018939 muscle-eye-brain disease biolink:Disease mondo ICD10:Q04.3|SCTID:277950001|GARD:0000156|Orphanet:588|ICD9:742.4 Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth (congenital muscular dystrophy). Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and distinctive facial features. This condition is caused by mutations in the POMGNT1 gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person. ORPHA:588|UMLS:C0457133|SNOMEDCT:277950001 http://purl.obolibrary.org/obo/MONDO_0018939 MEB|muscle-eye-brain syndrome|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3|muscle eye brain disease|MEB syndrome|Santavuori congenital muscular dystrophy gard_rare|ordo_disease UBERON:0003593 thoracic cavity connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003593 textus connectivus of cavity of thorax|pectoral cavity portion of connective tissue|connective tissue of chest cavity|portion of connective tissue of chest cavity|cavity of chest portion of connective tissue|thoracic cavity portion of connective tissue|cavity of thorax connective tissue|cavity of thorax textus connectivus|connective tissue of thoracic cavity|portion of connective tissue of thoracic cavity|chest cavity portion of connective tissue|connective tissue of pectoral cavity|portion of connective tissue of cavity of chest|portion of connective tissue of pectoral cavity|connective tissue of cavity of chest|cavity of chest textus connectivus|pectoral cavity textus connectivus|textus connectivus of chest cavity|connective tissue of cavity of thorax|portion of connective tissue of cavity of thorax|thoracic cavity textus connectivus|chest cavity connective tissue|chest cavity textus connectivus|textus connectivus of thoracic cavity|cavity of thorax portion of connective tissue|pectoral cavity connective tissue|cavity of chest connective tissue|textus connectivus of cavity of chest|textus connectivus of pectoral cavity MONDO:0018947 centronuclear myopathy biolink:Disease mondo DOID:14717|GARD:0000101|ICD10:G71.2|Orphanet:595|SCTID:82077006|UMLS:C0175709|OMIMPS:160150 Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. UMLS:C0175709|ORPHA:595|DOID:14717|SNOMEDCT:82077006 http://purl.obolibrary.org/obo/MONDO_0018947 CNM|myotubular myopathy|myopathy, centronuclear|myopathy, myotubular ordo_group_of_disorders|gard_rare MONDO:0018946 rhombencephalosynapsis biolink:Disease mondo SCTID:442300000|UMLS:C1866130|Orphanet:59315|ICD9:742.4|ICD10:Q04.3 Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres. UMLS:C1866130|SNOMEDCT:442300000|ORPHA:59315 http://purl.obolibrary.org/obo/MONDO_0018946 ordo_malformation_syndrome UBERON:0003594 pelvis connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a pelvis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003594 pelvis textus connectivus|textus connectivus of pelvis|pelvis portion of connective tissue|portion of connective tissue of pelvis|connective tissue of pelvis MONDO:0018949 distal myopathy biolink:Disease mondo Orphanet:599|DOID:11720|NCIT:C84675|UMLS:C0751336|SCTID:58795000|ICD10:G71.0 Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. ORPHA:599|UMLS:C0751336|DOID:11720|NCIT:C84675|SNOMEDCT:58795000 http://purl.obolibrary.org/obo/MONDO_0018949 distal myopathy|Miyoshi muscular dystrophy|distal muscular dystrophy ordo_group_of_disorders UBERON:0003591 lobar bronchus connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a lobar bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003591 connective tissue of lobar bronchus|connective tissue of secondary bronchus UBERON:0003592 bronchus connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003592 connective tissue of bronchi|portion of connective tissue of bronchi|bronchus portion of connective tissue|connective tissue of bronchial trunk|portion of connective tissue of bronchial trunk|bronchial trunk portion of connective tissue|bronchial mesenchyme|bronchial connective tissue|connective tissue of bronchus|bronchi portion of connective tissue|portion of connective tissue of bronchus|bronchus textus connectivus|textus connectivus of bronchi|bronchial trunk textus connectivus|bronchi connective tissue|bronchial trunk connective tissue|textus connectivus of bronchus|bronchi textus connectivus|textus connectivus of bronchial trunk MONDO:0018948 multiminicore myopathy biolink:Disease mondo GARD:0009130|Orphanet:598|UMLS:C0270962|SCTID:55133004|ICD10:G71.2 Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. UMLS:C0270962|ORPHA:598|SNOMEDCT:55133004 http://purl.obolibrary.org/obo/MONDO_0018948 multicore disease|multiminicore disease|MmD|multicore myopathy ordo_disease MONDO:0018943 myofibrillar myopathy (disease) biolink:Disease mondo ICD9:359.89|GARD:0010529|MESH:C580316|OMIMPS:601419|UMLS:C2678065|DOID:0080307|ICD10:G71.8|Orphanet:593|SCTID:699269005|HP:0003715|NCIT:C83009 Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. MESH:C580316|NCIT:C83009|UMLS:C2678065|SNOMEDCT:699269005|DOID:0080307|ORPHA:593 http://purl.obolibrary.org/obo/MONDO_0018943 Zaspopathy (type)|desmin related myopathy (former name)|desmin storage myopathy (former name)|Protein surplus myopathy (former name)|myotilinopathy (type)|myofibrillar myopathy|myofibrillar myopathies|Alpha Beta crystallinopathy (type)|filaminopathy (type)|Desminopathy (type) ordo_group_of_disorders|clingen UBERON:0003590 main bronchus connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003590 bronchus principalis textus connectivus|connective tissue of principal bronchus|primary bronchus mesenchyme|bronchus principalis connective tissue|connective tissue of primary bronchus|principal bronchus mesenchyme|bronchus principalis portion of connective tissue|connective tissue of bronchus principalis|connective tissue of main bronchus MONDO:0018942 macrophagic myofasciitis biolink:Disease mondo UMLS:C2931639|GARD:0000176|ICD10:M60.8|MESH:C537829|SCTID:718175009|Orphanet:592 UMLS:C2931639|SNOMEDCT:718175009|MESH:C537829|ORPHA:592 http://purl.obolibrary.org/obo/MONDO_0018942 MMF|Macrophagic myofasciitis, childhood ordo_disease|gard_rare MONDO:0018945 McLeod neuroacanthocytosis syndrome biolink:Disease mondo Orphanet:59306|HGNC:12811|ICD10:G10|SCTID:234411007|MESH:C564038|OMIM:300842|GARD:0010731|ICD9:289.89 McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. MESH:C564038|ORPHA:59306|SNOMEDCT:234411007|http://identifiers.org/omim/300842 http://purl.obolibrary.org/obo/MONDO_0018945 McLeod phenotype|X-linked McLeod syndrome|McLeod syndrome with chronic granulomatous disease|neuroacanthocytosis, McLeod type|McLeod syndrome|McLeod syndrome; MCLDS|MCLDS|MLS gard_rare|ordo_disease MONDO:0018944 gestational trophoblastic neoplasm biolink:Disease mondo MedDRA:10061988|GARD:0006498|ICD9:630|Orphanet:59305|UMLS:C1135868|DOID:3590|ICD10:O01.0|ICD10:O01|NCIT:C4699|SCTID:609519004|ICD10:O01.9 A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor. DOID:3590|MEDDRA:10061988|ORPHA:59305|NCIT:C4699|UMLS:C1135868|SNOMEDCT:609519004|MESH:D031901 http://purl.obolibrary.org/obo/MONDO_0018944 GTN|GTT|gestational trophoblastic neoplasia|molar pregnancy|gestational trophoblastic tumor|hydatidiform mole|gestational trophoblastic disease ordo_group_of_disorders MONDO:0018941 furuncular myiasis biolink:Disease mondo GARD:0002418|UMLS:C2931766|ICD10:B87.0|Orphanet:591|MESH:C538194 Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis). UMLS:C2931766|MESH:C538194|ORPHA:591 http://purl.obolibrary.org/obo/MONDO_0018941 furunculoid myiasis|furunculous myiasis ordo_disease UBERON:0003599 tail connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a tail [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003599 textus connectivus of tail|post-vent region connective tissue|tail portion of connective tissue|post-vent region portion of connective tissue|portion of connective tissue of post-vent region|connective tissue of post-vent region|tail textus connectivus|connective tissue of tail|portion of connective tissue of tail|post-vent region textus connectivus|textus connectivus of post-vent region GO:0070257 positive regulation of mucus secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. http://purl.obolibrary.org/obo/GO_0070257 positive regulation of mucus production MONDO:0018940 congenital myasthenic syndrome biolink:Disease mondo Orphanet:590|SCTID:230672006|GARD:0000098|MESH:D020294|UMLS:C0751882|ICD9:V17.89|NCIT:C84647|GARD:0011902|DOID:3635|OMIMPS:601462|ICD10:G70.2|ICD9:358.00 Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. DOID:3635|UMLS:C0751882|MESH:D020294|NCIT:C84647|SNOMEDCT:230672006|ORPHA:590 http://purl.obolibrary.org/obo/MONDO_0018940 CMS|myasthenia gravis congenital|myasthenic syndrome, congenital|familial limb-girdle myasthenia|myasthenia gravis pseudoparalytica|erb-Goldflam syndrome|congenital MG|congenital myasthenia gard_rare|ordo_disease UBERON:0003597 manual digit connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003597 connective tissue of finger|hand digit connective tissue|connective tissue of digit of hand|connective tissue of digitus manus|hand digit connective tissue|connective tissue of hand digit|fore limb digit connective tissue GO:0070255 regulation of mucus secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. http://purl.obolibrary.org/obo/GO_0070255 regulation of mucus production GO:0070256 negative regulation of mucus secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. http://purl.obolibrary.org/obo/GO_0070256 negative regulation of mucus production UBERON:0003598 manus connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a hand [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003598 hand connective tissue|connective tissue of hand|connective tissue of terminal segment of free upper limb MONDO:0006949 retinal drusen biolink:Disease mondo EFO:1001155|UMLS:C0035312|MESH:D015593|SCTID:247153005|MedDRA:10062776|DOID:2569|ICD9:362.57 Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium. SNOMEDCT:247153005|UMLS:C0035312|DOID:2569|MESH:D015593 http://purl.obolibrary.org/obo/MONDO_0006949 UBERON:0003595 pes connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a foot [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003595 textus connectivus of pes|foot connective tissue|connective tissue of foot|connective tissue of terminal segment of free lower limb GO:0070253 somatostatin secretion biolink:OntologyClass mondo The regulated release of somatostatin from secretory granules in the D cells of the pancreas. http://purl.obolibrary.org/obo/GO_0070253 GO:0070254 mucus secretion biolink:OntologyClass mondo The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function. http://purl.obolibrary.org/obo/GO_0070254 mucus production UBERON:0003596 ankle connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of an ankle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003596 connective tissue of ankle|tarsal region connective tissue MONDO:0006969 sialadenitis biolink:Disease mondo ICD10:K11.2|MedDRA:10040627|SCTID:42982001|MESH:D012793|ICD9:527.2|DOID:10303|COHD:29056|UMLS:C0037023|ICD10:K11.20|EFO:1001179|NCIT:C115165|GARD:0007638 Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common. MESH:D012793|DOID:10303|UMLS:C0037023|SNOMEDCT:42982001|NCIT:C115165 http://purl.obolibrary.org/obo/MONDO_0006969 saliva-secreting gland lymphadenitis (disease)|sialoadenitis|adenitis, salivary gland|salivary gland inflammation|sialitis|lymphadenitis (disease) of saliva-secreting gland gard_rare MONDO:0004306 childhood intracortical osteosarcoma biolink:Disease mondo DOID:7612|NCIT:C6590|UMLS:C1332974 A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. UMLS:C1332974|NCIT:C6590|DOID:7612 http://purl.obolibrary.org/obo/MONDO_0004306 childhood conventional osteosarcoma|childhood intracortical osteosarcoma MONDO:0004305 parathyroid oncocytic adenoma biolink:Disease mondo DOID:7611|NCIT:C27393|UMLS:C1335351 A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm. NCIT:C27393|UMLS:C1335351|DOID:7611 http://purl.obolibrary.org/obo/MONDO_0004305 parathyroid gland oncocytic adenoma|parathyroid oncocytic adenoma MONDO:0006967 obsolete septic abortion biolink:Disease mondo MESH:D000031|MedDRA:10040056|EFO:1001177 MESH:D000031 http://purl.obolibrary.org/obo/MONDO_0006967 MONDO:0004308 meningeal sarcoma biolink:Disease mondo NCIT:C4073|DOID:7614|UMLS:C0302327 A rare sarcoma arising from the meninges. NCIT:C4073|DOID:7614|UMLS:C0302327 http://purl.obolibrary.org/obo/MONDO_0004308 meninges sarcoma|sarcoma of meningeal cluster|meningeal sarcoma|sarcoma of the meninges|sarcoma of meninges|meningeal cluster sarcoma MONDO:0006968 shoulder impingement syndrome biolink:Disease mondo MedDRA:10049039|ICD9:726.2|UMLS:C0376685|ICD10:M75.4|DOID:14276|SCTID:202849001|MESH:D019534|EFO:1001178 Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed) SNOMEDCT:202849001|MESH:D019534|UMLS:C0376685|DOID:14276 http://purl.obolibrary.org/obo/MONDO_0006968 Impingement syndrome of shoulder region|subacromial impingement|shoulder impingement syndrome (disorder) [ambiguous] MONDO:0004307 sarcomatosis of the meninges biolink:Disease mondo DOID:7613|UMLS:C0334612|NCIT:C4334|ICDO:9539/3 A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis. NCIT:C4334|UMLS:C0334612|DOID:7613 http://purl.obolibrary.org/obo/MONDO_0004307 meninges sarcomatosis|meningeal sarcomatosis (morphologic abnormality)|sarcomatosis of the meninges|sarcomatosis of meninges|meningeal cluster sarcomatosis|meningeal sarcomatosis MONDO:0004302 chief cell adenoma biolink:Disease mondo ICDO:8321/0|NCIT:C4154|UMLS:C0334320|DOID:7607 A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei. NCIT:C4154|UMLS:C0334320|DOID:7607 http://purl.obolibrary.org/obo/MONDO_0004302 chief cell adenoma of the parathyroid|chief cell adenoma of parathyroid|parathyroid chief cell adenoma|chief cell adenoma of parathyroid gland|parathyroid gland chief cell adenoma|chief cell adenoma|chief cell adenoma of the parathyroid gland MONDO:0006965 secondary hypertrophic osteoarthropathy biolink:Disease mondo SCTID:203357004|EFO:1001174|ICD10:M89.4|ICD9:731.2|UMLS:C0029412|MESH:D010005|DOID:10393 Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed) MESH:D010005|DOID:10393|UMLS:C0029412|SNOMEDCT:203357004 http://purl.obolibrary.org/obo/MONDO_0006965 HPOA - hypertrophic pulmonary osteoarthropathy|hypertrophic pulmonary osteoarthropathy|hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]|Marie Bamberger disease|Bamberger-Marie disease MONDO:0006966 secondary Parkinson disease biolink:Disease mondo COHD:374013|EFO:1001175|MESH:D010302|NCIT:C34899|ICD9:332.1|ICD10:G21|UMLS:C0030569|SCTID:265377002|DOID:13548|ICD10:G21.9 A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication. DOID:13548|SNOMEDCT:265377002|MESH:D010302|UMLS:C0030569|NCIT:C34899 http://purl.obolibrary.org/obo/MONDO_0006966 secondary Parkinsonism|symptomatic parkinsonism|secondary parkinsonism, unspecified|secondary parkinsonism (disorder) [ambiguous]|disorder presenting primarily with parkinsonism MONDO:0004301 fibrosarcomatous osteosarcoma biolink:Disease mondo ICDO:9182/3|UMLS:C0279602|NCIT:C4020|ONCOTREE:FIOS|DOID:7603 A conventional osteosarcoma characterized by the presence of spindle shaped cells. NCIT:C4020|DOID:7603|UMLS:C0279602 http://purl.obolibrary.org/obo/MONDO_0004301 fibroblastic osteogenic sarcoma|fibrosarcomatous osteosarcoma|FIOS|fibroblastic osteosarcoma (morphologic abnormality)|fibroblastic osteosarcoma|fibrosarcomatous osteogenic sarcoma MONDO:0006963 sebaceous gland neoplasm biolink:Disease mondo UMLS:C3805742|ICD9:239.2|EFO:1001172|MESH:D012626|SCTID:126491004|DOID:5759|NCIT:C3363|UMLS:C0036503 A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma. UMLS:C0036503|SNOMEDCT:126491004|NCIT:C3363|UMLS:C3805742|DOID:5759|MESH:D012626 http://purl.obolibrary.org/obo/MONDO_0006963 sebaceous neoplasm|sebaceous gland neoplasm|tumor of sebaceous gland|sebaceous tumor|sebaceous gland neoplasm (disease)|sebaceous gland tumor|neoplasm of sebaceous gland MONDO:0004304 mixed cell type adenoma of parathyroid biolink:Disease mondo DOID:7610|UMLS:C0279701|NCIT:C7994 A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells). NCIT:C7994|DOID:7610|UMLS:C0279701 http://purl.obolibrary.org/obo/MONDO_0004304 mixed cell type adenoma of parathyroid gland|mixed cell type adenoma of the parathyroid|mixed cell type adenoma of parathyroid|parathyroid gland mixed cell type adenoma|mixed cell type adenoma of the parathyroid gland|parathyroid mixed cell type adenoma MONDO:0006964 secondary hyperparathyroidism (disease) biolink:Disease mondo NCIT:C113335|EFO:1001173|DOID:12466|COHD:138388|MESH:D006962|UMLS:C0020503|SCTID:91478007|MedDRA:10020708|HP:0000867 Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. SNOMEDCT:91478007|NCIT:C113335|DOID:12466|MESH:D006962|UMLS:C0020503 http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism|secondary hyperparathyroidism NOS MONDO:0004303 parathyroid gland clear cell adenoma biolink:Disease mondo NCIT:C7993|UMLS:C0279700|DOID:7609 A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm. NCIT:C7993|DOID:7609|UMLS:C0279700 http://purl.obolibrary.org/obo/MONDO_0004303 clear cell adenoma of the parathyroid|parathyroid clear cell adenoma|parathyroid gland clear cell adenoma|clear cell adenoma of the parathyroid gland|transitional clear cell adenoma of the parathyroid gland|parathyroid gland transitional clear cell adenoma|clear cell adenoma of parathyroid gland|transitional clear cell adenoma of parathyroid gland|parathyroid transitional clear cell adenoma|transitional clear cell adenoma of the parathyroid|transitional clear cell adenoma of parathyroid|clear cell adenoma of parathyroid MONDO:0006961 scrapie biolink:Disease mondo UMLS:C0036457|MESH:D012608|DOID:5434|EFO:1001168 A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions. DOID:5434|MESH:D012608|UMLS:C0036457 http://purl.obolibrary.org/obo/MONDO_0006961 MONDO:0006962 sebaceous adenocarcinoma biolink:Disease mondo ONCOTREE:SEBA|ICDO:8410/3|EFO:1001171|UMLS:C0206684|DOID:4839|NCIT:C40310|SCTID:307599002|MESH:D018266|ICD10:C44|DOID:4840 An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. MESH:D018266|SNOMEDCT:307599002|NCIT:C40310|UMLS:C0206684|DOID:4839|DOID:4840 http://purl.obolibrary.org/obo/MONDO_0006962 Seba|sebaceous carcinoma|sebaceous cancer|carcinoma of the sebaceous gland|carcinoma of sebaceous gland|malignant sebaceous tumor|adenocarcinoma, sebaceous, malignant|sebaceous gland adenocarcinoma|adenocarcinoma of the sebaceous gland|sebaceous gland carcinoma|malignant neoplasm of sebaceous gland MONDO:0004300 obsolete intracortical osteogenic sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004300 MONDO:0006960 sciatic neuropathy biolink:Disease mondo SCTID:52585001|MESH:D020426|UMLS:C0149940|DOID:11446|EFO:1001166|MedDRA:10048950 Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363) SNOMEDCT:52585001|DOID:11446|MESH:D020426|UMLS:C0149940 http://purl.obolibrary.org/obo/MONDO_0006960 MONDO:0018929 medial condensing osteitis of the clavicle biolink:Disease mondo Orphanet:57196|ICD10:M85.3|UMLS:CN230280|GARD:0010910 ORPHA:57196|UMLS:CN230280 http://purl.obolibrary.org/obo/MONDO_0018929 condensing osteitis of the clavicle|condensing osteitis of the medial clavicle|osteitis condensans of the clavicle ordo_disease MONDO:0018928 obsolete rare hepatic disease biolink:Disease mondo Orphanet:57146|UMLS:CN205315 Rare liver disease. ORPHA:57146|UMLS:CN205315 http://purl.obolibrary.org/obo/MONDO_0018928 rare liver disease ordo_group_of_disorders|obsoletion_candidate UBERON:0003582 nasopharynx connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a nasopharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003582 connective tissue of nasal part of pharynx|portion of connective tissue of nasal part of pharynx|nasal part of pharynx textus connectivus|connective tissue of rhinopharynx|portion of connective tissue of rhinopharynx|nasopharynx textus connectivus|textus connectivus of nasopharynx|rhinopharynx portion of connective tissue|nasal part of pharynx connective tissue|textus connectivus of nasal part of pharynx|textus connectivus of rhinopharynx|nasal part of pharynx portion of connective tissue|rhinopharynx connective tissue|nasopharynx portion of connective tissue|portion of connective tissue of nasopharynx|connective tissue of nasopharynx|rhinopharynx textus connectivus MONDO:0018936 osteoblastoma (disease) biolink:Disease mondo Orphanet:58040|ICD10:D16.1|ICD10:D16.0|ICDO:9200/0|NCIT:C3294|MedDRA:10004430|DOID:0060098|ICD10:D16.5|ICD10:D16.8|ICD10:D16.7|ICD10:D16.6|MESH:D018215|ICD10:D16.4|UMLS:C0029417|EFO:1000410|HP:0011846|ICD10:D16.3 A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent. MEDDRA:10004430|MESH:D018215|DOID:0060098|UMLS:C0029417|ORPHA:58040|NCIT:C3294 http://purl.obolibrary.org/obo/MONDO_0018936 osteoblastoma, benign|giant osteoid osteoma|osteoblastoma|ossifying giant cell tumor ordo_disease MONDO:0018935 hairy cell leukemia biolink:Disease mondo ICDO:9940/3|MedDRA:10019055|NCIT:C7402|MESH:D007943|SCTID:118613001|GARD:0006560|ONCOTREE:HCL|Orphanet:58017|EFO:1000956|MedDRA:10019053|ICD10:C91.40|ICD9:202.4|UMLS:C0023443|DOID:285|ICD10:C91.4 Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections. NCIT:C7402|MESH:D007943|UMLS:C0023443|SNOMEDCT:118613001|ORPHA:58017|MEDDRA:10019053|DOID:285 http://purl.obolibrary.org/obo/MONDO_0018935 leukemic reticuloendotheliosis|HCL-C|HCL|hairy cell leukemia|classic hairy cell leukemia ordo_disease UBERON:0003583 larynx connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a larynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003583 portion of connective tissue of larynx|connective tissue of larynx|larynx portion of connective tissue|textus connectivus of larynx|laryngeal connective tissue|larynx textus connectivus UBERON:0003580 lower respiratory tract connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a lower respiratory tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003580 lower respiratory tract portion of connective tissue|textus connectivus of lower respiratory tract|lower respiratory tract textus connectivus|portion of connective tissue of lower respiratory tract|connective tissue of lower respiratory tract MONDO:0018938 mucopolysaccharidosis type 4 biolink:Disease mondo DOID:12804|ICD10:E76.210|GARD:0012562|UMLS:C0026707|SCTID:378007|NCIT:C61263|ICD10:E76.219|ICD10:E76.2|MedDRA:10028095|Orphanet:582 Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B. SNOMEDCT:378007|UMLS:C0026707|ORPHA:582|MEDDRA:10028095|NCIT:C61263|DOID:12804|UMLS:C0086651|MESH:D009085 http://purl.obolibrary.org/obo/MONDO_0018938 MPSIV|mucopolysaccharidosis IV|mucopolysaccharidosis type IV|MPS IV - Morquio syndrome B|MPS IV - Morquio syndrome A|mucopolysaccharidosis, MPS-IV|mucopolysaccharidosis type 4|Morquio disease|chondroosteodystrophy|Osteochondrodystrophy|mucopolysaccharidosis type IVB|Morquio syndrome|mucopolysaccharidosis type IVA|MPS4|galactosamine-6-sulfatase deficiency|Morquio syndrome A|Morquio A disease|deficiency of N-acetylgalactosamine-6-sulphatase|mucopolysaccharidosis, MPS-IV-A|deficiency of chondroitinsulphatase ordo_disease MONDO:0018937 mucopolysaccharidosis type 3 biolink:Disease mondo UMLS:C0026706|MedDRA:10056890|DOID:12801|GARD:0003807|SCTID:88393000|ICD10:E76.2|UMLS:CN205330|ICD10:E76.22|Orphanet:581|NCIT:C61262 Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. UMLS:C0026706|ORPHA:581|NCIT:C61262|SNOMEDCT:88393000|UMLS:CN205330|DOID:12801|MEDDRA:10056890|MESH:D009084 http://purl.obolibrary.org/obo/MONDO_0018937 mucopolysaccharidosis, MPS-III|MPS IIID - Sanfilippo syndrome D|Sanfilippo disease|NAGLU deficiency|MPS IIIC - Sanfilippo syndrome C|N-acetyl-alpha-D-glucosaminidase deficiency|MPS IIIB - Sanfilippo syndrome B|MPSIII|mucopolysaccharidosis, MPS-III-B|heparan sulfate sulfatase deficiency|MPS IIIA - Sanfilippo syndrome A|N-sulphoglucosamine sulphohydrolase deficiency|Sanfilippo syndrome|Sanfilippo syndrome B|MPS3|Sanfilippo syndrome A|mucopolysaccharidosis type IIIB|mucopolysaccharidosis type IIIA|mucopolysaccharidosis III|mucopolysaccharidosis type III|Mucopoly-saccharidosis type 3|Sanfilippo's syndrome ordo_disease UBERON:0003581 eyelid connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003581 connective tissue of eyelid|connective tissue of blepharon|blepharon connective tissue MONDO:0018932 cirrhotic cardiomyopathy biolink:Disease mondo UMLS:C4511053|ICD10:I42.8|Orphanet:57777|SCTID:725416005 Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes. UMLS:C4511053|SNOMEDCT:725416005|ORPHA:57777 http://purl.obolibrary.org/obo/MONDO_0018932 ordo_disease MONDO:0018931 mucolipidosis type III biolink:Disease mondo UMLS:CN237499|Orphanet:423461|DOID:0080071|ICD10:E77.0|GARD:0003806|Orphanet:577|SCTID:65764006|OMIM:252600 Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. ORPHA:577|SNOMEDCT:65764006|UMLS:CN237499|http://identifiers.org/omim/252600|DOID:0080071|ORPHA:423461 http://purl.obolibrary.org/obo/MONDO_0018931 ML III alpha/beta|mucolipidosis III ALPHA/BETA|pseudo-Hurler polydystrophy|ML 3 Alpha/Beta|mucolipidosis type 3A|ML 3|MLIII|mucolipidosis III|mucolipidosis 3 Alpha/Beta, atypical|mucolipidosis type III alpha/beta|mucolipidosis 3 Alpha/Beta|mucolipidosis 3A|ML 3 alpha/beta|mucolipidosis 3|ML 3 A|mucolipidosis type 3 alpha/beta|ML3 ordo_clinical_subtype|ordo_disease|gard_rare NCBITaxon:9347 Eutheria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9347 placentals|placental mammals|placentals|eutherian mammals|Placentalia MONDO:0018934 obsolete mucopolysaccharidosis type 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018934 MONDO:0018933 Mazabraud syndrome biolink:Disease mondo UMLS:CN205323|SCTID:699251001|ICD10:M85.0|Orphanet:57782|ICD9:733.29|ICD9:215.9 Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported. UMLS:CN205323|SNOMEDCT:699251001|ORPHA:57782 http://purl.obolibrary.org/obo/MONDO_0018933 Myxoma with fibrous dysplasia ordo_malformation_syndrome MONDO:0018930 monosomy 21 biolink:Disease mondo Orphanet:574|UMLS:C0795875|ICD10:Q93.0|NCIT:C36469|GARD:0010860|MESH:C537108 Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. NCIT:C36469|MESH:C537108|UMLS:C0795875|ORPHA:574 http://purl.obolibrary.org/obo/MONDO_0018930 chromosome 21q deletion|partial 21q monosomy|21q- syndrome|deletion 21q|21q deletion syndrome|monosomy type 21|monosomy 21q|partial monosomy 21q|21q deletion|21q monosomy ordo_malformation_syndrome UBERON:0003588 forelimb connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a forelimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003588 connective tissue of superior member|wing connective tissue|connective tissue of upper extremity|connective tissue of anteriormost limb|connective tissue of fore limb|connective tissue of forelimb UBERON:0003589 hindlimb connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003589 connective tissue of inferior member|connective tissue of hind limb|connective tissue of hindlimb|connective tissue of lower extremity|hind limb connective tissue UBERON:0003586 trunk connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003586 textus connectivus of trunk|torso connective tissue|textus connectivus of torso|connective tissue of trunk|torso portion of connective tissue|portion of connective tissue of trunk|trunk portion of connective tissue|connective tissue of torso|portion of connective tissue of torso|torso textus connectivus|trunk textus connectivus UBERON:0003587 limb connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003587 textus connectivus of limb|limb portion of connective tissue|connective tissue of limb|portion of connective tissue of limb|limb textus connectivus UBERON:0003584 mammary gland connective tissue biolink:AnatomicalEntity mondo The fibrous supportive tissue of the mammary gland. http://purl.obolibrary.org/obo/UBERON_0003584 lactiferous gland portion of connective tissue|connective tissue of lobe of mammary gland|lactiferous gland connective tissue|connective tissue of mammary gland|stroma of lactiferous gland|lactiferous gland stroma|connective tissue of lactiferous gland|mammary stroma|connective tissue of lobe of breast|mammary gland stroma UBERON:0003585 dermis connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a dermis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003585 dermis textus connectivus|connective tissue of dermis|portion of connective tissue of dermis|dermis portion of connective tissue|textus connectivus of dermis UBERON:0003609 aorta elastic tissue biolink:AnatomicalEntity mondo The dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall. http://purl.obolibrary.org/obo/UBERON_0003609 elastic tissue of trunk of aortic tree|textus connectivus elasticus of adult aorta|aorta elastic lamina|aorta elastic connective tissue|elastic connective tissue of dorsal aorta|elastic connective tissue of aorta|elastic connective tissue of trunk of aortic tree|trunk of aortic tree textus connectivus elasticus|dorsal aorta textus connectivus elasticus|trunk of aortic tree elastic tissue|dorsal aorta elastic tissue|elastic tissue of aorta|adult aorta textus connectivus elasticus|adult aorta elastic connective tissue|aorta elastic laminae|elastic connective tissue of adult aorta|textus connectivus elasticus of aorta|adult aorta elastic tissue|dorsal aorta elastic connective tissue|textus connectivus elasticus of dorsal aorta|textus connectivus elasticus of trunk of aortic tree|trunk of aortic tree elastic connective tissue|aorta textus connectivus elasticus|elastic tissue of adult aorta|elastic tissue of dorsal aorta UBERON:0003607 forelimb long bone biolink:AnatomicalEntity mondo A long bone that is part of a forelimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003607 upper extremity long bone|long bone of forelimb|anteriormost limb long bone|fore limb long bone|long bone of superior member|wing long bone|long bone of upper extremity|long bone of anteriormost limb|long bone of fore limb|superior member long bone MONDO:0100040 FOXG1 disorder biolink:Disease mondo A monogenic disease that has material basis in mutation in the FOXG1 gene. http://purl.obolibrary.org/obo/MONDO_0100040 inherited genetic disease caused by mutation in FOXG1|FOXG1 inherited genetic disease UBERON:0003608 hindlimb long bone biolink:AnatomicalEntity mondo A long bone that is part of a hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003608 lower extremity long bone|long bone of inferior member|long bone of hind limb|long bone of hindlimb|long bone of lower extremity|inferior member long bone|hind limb long bone UBERON:0003605 eye skin gland biolink:AnatomicalEntity mondo A skin gland that is part of a camera-type eye [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003605 skin glands set of vertebrate eye|skin glands of vertebrate eye|camera-type eye skin gland|skin gland of camera-type eye|camera-type eye skin glands set|camera-type eye skin glands|skin gland of vertebrate eye|skin glands of camera-type eye|vertebrate eye skin glands set|skin glands set of camera-type eye|vertebrate eye skin glands|vertebrate eye skin gland UBERON:0003606 limb long bone biolink:AnatomicalEntity mondo A long bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003606 long bone of limb UBERON:0003603 lower respiratory tract cartilage biolink:AnatomicalEntity mondo A cartilage that is part of a lower respiratory tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003603 cartilage of lower respiratory tract UBERON:0003604 trachea cartilage biolink:AnatomicalEntity mondo the ring-shaped cartilaginous structures that support the trachea http://purl.obolibrary.org/obo/UBERON_0003604 cartilago trachealis|cartilage of windpipe|cartilage of the trachea|cartilaginous ring of trachea|ring of the trachea|trachea ring|cartilagines tracheales|tracheal cartilage|tracheal ring|windpipe cartilage|cartilaginous trachea cartilage|cartilage of trachea GO:0008443 phosphofructokinase activity biolink:OntologyClass mondo Catalysis of the transfer of a phosphate group, usually from ATP, to a phosphofructose substrate molecule. http://purl.obolibrary.org/obo/GO_0008443 UBERON:0003613 cardiovascular system elastic tissue biolink:AnatomicalEntity mondo An elastic tissue that is part of a circulatory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003613 textus connectivus elasticus of cardiovascular system|circulatory system textus connectivus elasticus|circulatory system elastic connective tissue|textus connectivus elasticus of circulatory system|circulatory system elastic tissue|elastic tissue of circulatory system|cardiovascular system elastic connective tissue|elastic connective tissue of cardiovascular system|elastic connective tissue of circulatory system|elastic tissue of cardiovascular system|cardiovascular system textus connectivus elasticus UBERON:0003610 heart elastic tissue biolink:AnatomicalEntity mondo The type of heart connective tissue found in the endocardial layer that consists mainly of elastic fibers. http://purl.obolibrary.org/obo/UBERON_0003610 textus connectivus elasticus of heart|cardiac elastic tissue|heart elastic connective tissue|elastic connective tissue of heart|heart textus connectivus elasticus|elastic tissue of heart UBERON:0003611 respiratory system elastic tissue biolink:AnatomicalEntity mondo An elastic tissue that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003611 elastic connective tissue of respiratory system|apparatus respiratorius textus connectivus elasticus|apparatus respiratorius elastic connective tissue|elastic connective tissue of apparatus respiratorius|apparatus respiratorius elastic tissue|elastic tissue of apparatus respiratorius|textus connectivus elasticus of respiratory system|respiratory system elastic connective tissue|textus connectivus elasticus of apparatus respiratorius|respiratory system textus connectivus elasticus|elastic tissue of respiratory system CHEBI:138103 inorganic acid biolink:ChemicalSubstance mondo A Bronsted acid derived from one or more inorganic compounds. Inorganic acids (also known as mineral acids) form hydrons and conjugate base ions when dissolved in water. http://purl.obolibrary.org/obo/CHEBI_138103 mineral acids|inorganic acids|mineral acid MONDO:0100051 idiopathic mast cell activation syndrome biolink:Disease mondo Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable. http://purl.obolibrary.org/obo/MONDO_0100051 idiopathic MACS MONDO:0100052 acetazolamide-responsive hereditary episodic ataxia biolink:Disease mondo Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide. http://purl.obolibrary.org/obo/MONDO_0100052 MONDO:0100053 anaphylaxis biolink:Disease mondo NCIT:C107101 An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting. NCIT:C107101 http://purl.obolibrary.org/obo/MONDO_0100053 systemic anaphylaxis|anaphylactic shock MONDO:0100054 idiopathic anaphylaxis biolink:Disease mondo SCTID:241954008 Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. SNOMEDCT:241954008 http://purl.obolibrary.org/obo/MONDO_0100054 MONDO:0100056 exercise-induced anaphylaxis biolink:Disease mondo A rare disorder in which anaphylaxis occurs in association with physical activity. http://purl.obolibrary.org/obo/MONDO_0100056 EIAn GO:0008456 alpha-N-acetylgalactosaminidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides. http://purl.obolibrary.org/obo/GO_0008456 alpha-galactosidase B activity|N-acetyl-alpha-galactosaminidase activity|alpha-NAGA activity|alpha-N-acetyl-D-galactosaminide N-acetylgalactosaminohydrolase activity|alpha-acetylgalactosaminidase activity|N-acetyl-alpha-D-galactosaminidase activity MONDO:0100057 food-dependent exercise-induced anaphylaxis biolink:Disease mondo A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis. http://purl.obolibrary.org/obo/MONDO_0100057 MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia biolink:Disease mondo OMIM:618850 Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids. http://identifiers.org/omim/618850 http://purl.obolibrary.org/obo/MONDO_0100058 hypervalinemia and hyperleucine-isoleucinemia; HVLI|hypervalinemia and hyperleucine-isoleucinemia|HVLI|branched-chain aminotransferase deficiency MONDO:0100059 hypereosinophilia of undetermined significance biolink:Disease mondo Long-lasting, unexplained and asymptomatic blood hypereosinophilia. http://purl.obolibrary.org/obo/MONDO_0100059 benign eosinophilia|HEUS HGNC:1908 VPS13A biolink:OntologyClass mondo http://identifiers.org/hgnc/1908 NCBITaxon:721805 Amygdaleae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_721805 UBERON:0003601 neck cartilage biolink:AnatomicalEntity mondo A cartilage that is part of a neck [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003601 neck (volume) cartilage|cartilage of neck|cartilage of neck (volume) HGNC:1915 CHD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1915 MONDO:0100061 PRPS1 deficiency disorder biolink:Disease mondo A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss. http://purl.obolibrary.org/obo/MONDO_0100061 PRPS1-related CMTX5/Arts syndrome/XLNSHL MONDO:0100062 developmental and epileptic encephalopathy biolink:Disease mondo ICD9:345.10|MedDRA:10071545|NCIT:C122814|DOID:0050709|GARD:0009255|ICD10:G40.82|SCTID:230429005|Orphanet:1934|ICD10:G40.3|EFO:1000643|ICD9:345.6|DOID:2481|OMIMPS:308350 A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. ORPHA:1934|DOID:0050709|DOID:2481|UMLS:C0393706|SNOMEDCT:230429005|MEDDRA:10071545|NCIT:C122814 http://purl.obolibrary.org/obo/MONDO_0100062 infantile epileptic encephalopathy|epileptic encephalopathy, early infantile|early infantile epileptic encephalopathy with burst-suppression|epileptic encephalopathy, infantile|infantile spasm|early infantile epileptic encephalopathy with suppression-bursts|Ohtahara syndrome|EIEE|developmental and epileptic encephalopathy|epileptic encephalopathy, early infantile, 15|early infantile epileptic encephalopathy ordo_clinical_syndrome|clingen MONDO:0100063 Pericytoma with t(7;12) biolink:Disease mondo A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation. http://purl.obolibrary.org/obo/MONDO_0100063 Pericytoma t(7;12) MONDO:0100064 tyrosine hydroxylase deficiency biolink:Disease mondo Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa). http://purl.obolibrary.org/obo/MONDO_0100064 tyrosine Hydroxylase deficiency|TH deficiency|tyrosine 3-monooxygenase deficiency HGNC:1912 CHAT biolink:OntologyClass mondo http://identifiers.org/hgnc/1912 MONDO:0100065 TH-deficient infantile parkinsonism and motor delay biolink:Disease mondo A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). http://purl.obolibrary.org/obo/MONDO_0100065 tyrosine hydroxylase infantile parkinsonism and motor delay MONDO:0100066 TH-deficient progressive infantile encephalopathy biolink:Disease mondo A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias. http://purl.obolibrary.org/obo/MONDO_0100066 tyrosine hydroxylase-deficient progressive infantile encephalopathy MONDO:0100068 SLC10A7-CDG biolink:Disease mondo SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen. http://purl.obolibrary.org/obo/MONDO_0100068 SLC10A7 deficiency|SLC10A7-Congenital Disorder of Glycosylation MONDO:0100069 hearing impairment and infertile male syndrome biolink:Disease mondo A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology. http://purl.obolibrary.org/obo/MONDO_0100069 HIIMS HGNC:1919 CHD4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1919 HGNC:1917 CHD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1917 NCBITaxon:721813 Maleae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_721813 Pyrodae|Pyreae MONDO:0100070 neuroendocrine disease biolink:Disease mondo A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. http://purl.obolibrary.org/obo/MONDO_0100070 neuroendocrine system disease MONDO:0100071 cardiocutaneous syndrome biolink:Disease mondo Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation. http://purl.obolibrary.org/obo/MONDO_0100071 MONDO:0100072 neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts biolink:Disease mondo Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients. http://purl.obolibrary.org/obo/MONDO_0100072 MONDO:0100073 methicillin-resistant staphylococcus aureus infectious disease biolink:Disease mondo Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins. http://purl.obolibrary.org/obo/MONDO_0100073 MRSA MONDO:0100074 norovirus infectious disease biolink:Disease mondo Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans. http://purl.obolibrary.org/obo/MONDO_0100074 MONDO:0100075 jaw fracture biolink:Disease mondo A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken. http://purl.obolibrary.org/obo/MONDO_0100075 lower jaw fracture|upper jaw fracture MONDO:0100076 juvenile idiopathic scoliosis biolink:Disease mondo A scoliosis with no known cause arising in a juvenile. http://purl.obolibrary.org/obo/MONDO_0100076 MONDO:0100078 resistant hypertension biolink:Disease mondo A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective. http://purl.obolibrary.org/obo/MONDO_0100078 drug resistant hypertension MONDO:0100079 developmental and epileptic encephalopathy, 6 biolink:Disease mondo OMIM:607208 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene. http://identifiers.org/omim/607208 http://purl.obolibrary.org/obo/MONDO_0100079 DEE6|EIEE6|epileptic encephalopathy, early infantile, 6 GO:0008434 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0008434 MONDO:0100081 sleep disorder biolink:Disease mondo NCIT:C3376 A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. NCIT:C3376 http://purl.obolibrary.org/obo/MONDO_0100081 parasomnia|sleep disturbances|disturbances, sleep|sleep disturbance MONDO:0100082 LEOPARD syndrome 1 biolink:Disease mondo OMIM:151100 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24. http://identifiers.org/omim/151100 http://purl.obolibrary.org/obo/MONDO_0100082 LEOPARD syndrome type 1|multiple lentigines syndrome|lentiginosis, cardiomyopathic|LPRD1 HGNC:1938 CHKB biolink:OntologyClass mondo http://identifiers.org/hgnc/1938 MONDO:0041182 polymorphic light eruption biolink:Disease mondo SCTID:238525001|UMLS:C0031736 UMLS:C0031736|SNOMEDCT:238525001 http://purl.obolibrary.org/obo/MONDO_0041182 polymorphic photodermatitis|polymorphous light eruption|polymorphic light eruption MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 biolink:Disease mondo OMIM:601399 This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL. http://identifiers.org/omim/601399 http://purl.obolibrary.org/obo/MONDO_0100083 thrombocytopenia, familial, with propensity to acute myelogenous leukemia|familial platelet disorder with associated myeloid malignancy|platelet disorder, aspirin-like|FPDMM|asprin-like platelet disorder|FPS/AML syndrome|platelet disorder, familial, with associated myeloid malignancy|FPD/AML syndrome|platelet disorder, familial, with associated myeloid malignancy; FPDMM|familial thrombocytopenia with propensity to acute myelogenous leukemia|familial platelet syndrome with predisposition to acute myelogenous leukemia MONDO:0100084 alpha-actinopathy biolink:Disease mondo A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance. http://purl.obolibrary.org/obo/MONDO_0100084 actin myopathy|alpha actinopathy|actinopathy|ACTA1 disease HGNC:1936 CHIT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1936 UBERON:0003649 metacarpal bone of digit 5 biolink:AnatomicalEntity mondo A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 5. http://purl.obolibrary.org/obo/UBERON_0003649 metacarpal of 5 th digit of hand|hand digit 5 metacarpal bone|metacarpal bone of 5 th finger|5 th digit of hand metacarpal|metacarpal of fifth finger|manual digit 5 metacarpus|metacarpal of hand digit 5|metacarpal bone of 5 th digit of hand|metacarpal of 5 th finger|metacarpal bone of fifth finger|metacarpal bone of digit V|metacarpal V|5 th finger metacarpal bone|5 th finger metacarpal|metacarpal bone of hand digit 5|metacarpal 5|finger 5 metacarpus|fifth metacarpal bone|5 th digit of hand metacarpal bone|hand digit 5 metacarpal|forelimb digit 5 metacarpus|metacarpal bone digit 5|fifth finger metacarpal|fifth finger metacarpal bone MONDO:0100085 cancer of long bone of upper limb biolink:Disease mondo A cancer that involves the upper limb long bone. http://purl.obolibrary.org/obo/MONDO_0100085 long bones of upper limb cancer|malignant neoplasm of upper limb long bone|cancer of upper extremity long bone|cancer of long bone of forelimb|cancer of fore limb long bone|cancer of long bone of upper extremity|malignant upper limb long bone neoplasm|cancer of long bone of fore limb MONDO:0100086 perinatal disease biolink:Disease mondo A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth. http://purl.obolibrary.org/obo/MONDO_0100086 perinatal condition|perinatal disorder MONDO:0100087 familial Alzheimer disease biolink:Disease mondo A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner. http://purl.obolibrary.org/obo/MONDO_0100087 FAD|Alzheimer disease, familial|GARD:0000632 MONDO:0100088 late-onset familial alzheimer disease biolink:Disease mondo GARD:0012799 A form of familial Alzheimer disease, that begins after age 65. http://purl.obolibrary.org/obo/MONDO_0100088 Alzheimer disease type 2 HGNC:1932 CHI3L1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1932 MONDO:0100089 GATA1-Related X-Linked Cytopenia biolink:Disease mondo X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia. http://purl.obolibrary.org/obo/MONDO_0100089 GATA1-Related Cytopenia MONDO:0041186 Rowell syndrome biolink:Disease mondo SCTID:238926009|UMLS:C0406637 A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities. SNOMEDCT:238926009|UMLS:C0406637 http://purl.obolibrary.org/obo/MONDO_0041186 Rowell's syndrome|lupus erythematosus and erythema multiforme-like syndrome UBERON:0003656 mesopodium bone biolink:AnatomicalEntity mondo A bone that is part of a mesopodial skeleton. http://purl.obolibrary.org/obo/UBERON_0003656 basipodium bone|carpal/tarsal bone|mesopod bone|mesopodial bone HGNC:1940 CHM biolink:OntologyClass mondo http://identifiers.org/hgnc/1940 UBERON:0003657 limb joint biolink:AnatomicalEntity mondo Any joint that is part of a (free) limb. http://purl.obolibrary.org/obo/UBERON_0003657 joint of limb|skeletal limb joint|joint of limb skeletal system UBERON:0003654 metatarsal bone of digit 5 biolink:AnatomicalEntity mondo A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 5. http://purl.obolibrary.org/obo/UBERON_0003654 metatarsal V|metatarsal bone of digit V|metatarsal 5|toe 5 metatarsus|hindlimb digit 5 metatarsus|metatarsal bone of foot digit 5|toe 5 metatarsal|fifth metatarsal bone|metatarsal bone digit 5|foot digit 5 metatarsal bone UBERON:0003650 metatarsal bone of digit 1 biolink:AnatomicalEntity mondo A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 1. http://purl.obolibrary.org/obo/UBERON_0003650 toe 1 metatarsal|hallux metatarsal bone|foot digit 1 metatarsal bone|metatarsal 1|metatarsal bone of hallux|metatarsal bone of foot digit 1|metatarsal bone of digit I|metatarsal I|hindlimb digit 1 metatarsus|first metatarsal bone|toe 1 metatarsus|metatarsal bone digit 1 MONDO:0100080 cardioectodermal syndrome biolink:Disease mondo Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation. http://purl.obolibrary.org/obo/MONDO_0100080 cardio-ectodermal syndrome MONDO:0100092 myoclonus, familial, 2 biolink:Disease mondo OMIM:618364 Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. http://identifiers.org/omim/618364 http://purl.obolibrary.org/obo/MONDO_0100092 MYOCL2 MONDO:0100093 myoclonus, familial, 1 biolink:Disease mondo OMIM:614937 Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22. http://identifiers.org/omim/614937 http://purl.obolibrary.org/obo/MONDO_0100093 MYOCL1|FCM|myoclonus, familial cortical MONDO:0100094 cannabinoid hyperemesis syndrome biolink:Disease mondo A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment. http://purl.obolibrary.org/obo/MONDO_0100094 CHS MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures biolink:Disease mondo OMIM:618170 Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene. http://identifiers.org/omim/618170 http://purl.obolibrary.org/obo/MONDO_0100095 CONDSIAS|NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS MONDO:0100096 COVID-19 biolink:Disease mondo ICD11:RA01.0|ICD10:U07.1|DOID:0080600|ICD11:RA01.2|MESH:C000657245|SCTID:840539006|ICD10:U07.2 A disease caused by infection with severe acute respiratory syndrome coronavirus 2. MESH:C000657245|DOID:0080600|SNOMEDCT:840539006 http://purl.obolibrary.org/obo/MONDO_0100096 beta-CoVs|β-coronavirus|coronavirus disease 2019|2019-nCoV infection|2019 novel coronavirus|β-CoVs|2019-nCoV|2019 novel coronavirus infection|betacoronavirus|β-CoV|severe acute respiratory syndrome coronavirus 2|SARS-coronavirus 2|SARS-CoV-2|beta-CoV UBERON:0003639 manual digit 5 phalanx biolink:AnatomicalEntity mondo A phalanx that is part of a hand digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003639 hand digit 5 long bone of digit|phalanx of fifth digit of hand|little finger phalanx|fifth finger phalanx|fifth finger long bone of digit|long bone of digit of 5 th digit of hand|phalanx of 5 th finger|5 th digit of hand digit long bone|hand digit 5 phalanx|5 th digit of hand long bone of digit|fifth finger digit long bone|long bone of digit of fifth finger|phalanx of manual digitus minimus|hand digit 5 digit long bone|long bone of digit of hand digit 5|phalanx of 5 th digit of hand|long bone of digit of 5 th finger|phalanx of fifth finger|phalanx of little finger|5 th finger phalanx|phalanx of hand digit 5|digit long bone of 5 th digit of hand|5 th finger long bone of digit|phalanx of 5th finger|manual digit V phalanx|fore limb digit 5 phalanx|digit long bone of fifth finger|hand digit 5 phalanx|digit long bone of hand digit 5|5 th finger digit long bone|5 th digit of hand phalanx|digit long bone of 5 th finger HGNC:1943 CHN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1943 GO:0045444 fat cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. http://purl.obolibrary.org/obo/GO_0045444 adipocyte differentiation|adipose cell differentiation|adipogenesis|adipocyte cell differentiation UBERON:0003645 metacarpal bone of digit 1 biolink:AnatomicalEntity mondo A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 1. http://purl.obolibrary.org/obo/UBERON_0003645 first digit of hand metacarpal|thumb metacarpal|metacarpal bone digit 1|hand digit 1 metacarpal bone|metacarpal I|metacarpal bone of digit I|metacarpal bone of thumb|finger 1 metacarpus|metacarpal bone of first digit of hand|metacarpal of hand digit 1|metacarpal of thumb|metacarpal of first digit of hand|hand digit 1 metacarpal|forelimb digit 1 metacarpus|metacarpal bone of hand digit 1|thumb metacarpal bone|metacarpal 1|first digit of hand metacarpal bone|manual digit 1 metacarpus|first metacarpal bone HGNC:1952 CHRM3 biolink:OntologyClass mondo http://identifiers.org/hgnc/1952 NCBITaxon:452284 Ustilaginomycotina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_452284 UBERON:0003643 respiratory system arterial blood vessel biolink:AnatomicalEntity mondo An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003643 UBERON:0003644 kidney arterial blood vessel biolink:AnatomicalEntity mondo An arterial blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial system UBERON:0003640 pedal digit 1 phalanx biolink:AnatomicalEntity mondo A phalanx that is part of a foot digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003640 phalanx of first toe|foot digit 1 phalanx|hallux phalanx|phalanx of first digit of foot|big toe phalanx|long bone of digit of foot digit 1|hind limb digit 1 phalanx|hallux digit long bone|foot digit 1 digit long bone|long bone of digit of hallux|foot digit 1 long bone of digit|hallux long bone of digit|phalanx of foot digit 1|phalanx of hallux|digit long bone of foot digit 1|digit long bone of hallux|foot digit 1 phalanx|phalanx of big toe|pedal digit I phalanx|phalanx of great toe MONDO:0100091 inherited pseudoxanthoma elasticum biolink:Disease mondo GARD:0009643 An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. http://purl.obolibrary.org/obo/MONDO_0100091 inherited Gronblad Strandberg syndrome|inherited PXE gard_rare HGNC:1958 CHRNA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1958 HGNC:1955 CHRNA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1955 HGNC:1956 CHRNA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1956 UBERON:0003625 manual digit 5 biolink:AnatomicalEntity mondo 5th digit of the manus. http://purl.obolibrary.org/obo/UBERON_0003625 manus digiti minimi|little finger|manual digit V|fore limb digit 5|hand digit 5|manual digitus V|fifth finger|manual digitus minimus|hand digit 5|5th finger|digit 5 of fore-paw|fore digit V|finger 5|5th digit of hand|manus quintus|fifth digit of hand GO:0045453 bone resorption biolink:OntologyClass mondo The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. http://purl.obolibrary.org/obo/GO_0045453 OBO:so#derives_from derives_from biolink:OntologyClass mondo http://purl.obolibrary.org/obo/so#derives_from HGNC:1962 CHRNB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1962 UBERON:0003635 pedal digit 5 biolink:AnatomicalEntity mondo 5th digit of the hind autopod. http://purl.obolibrary.org/obo/UBERON_0003635 pedal digitus minimus|hind digit 5|digitus minimus pedis|little toe|digitus quintus [V]|foot digit 5|digitus V of pes|5th toe|digitus quintus (V) pedis|digitus minimus; digitus quintus [v]|digitus quintus of pes|pes digit V|fifth toe|foot digit 5|digitus quintus [V] pedis|toe 5|pedal digit V|hind limb digit 5|digitus quintus pedis|digit 5 of hind-paw|fifth digit of foot|hind digit V HGNC:1960 CHRNA7 biolink:OntologyClass mondo http://identifiers.org/hgnc/1960 HGNC:1961 CHRNB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1961 UBERON:0003631 pedal digit 1 biolink:AnatomicalEntity mondo 1st digit of the hind autopod. http://purl.obolibrary.org/obo/UBERON_0003631 great toe|digit 1 of hind-paw|digit 1 of pes|first toe|hind digit 1|digitus primus (I) pedis|pes digit I|hindlimb dewclaw|digitus primus pedis|foot digit 1|pedal digit I|large toe|big toe|hind digit I|foot digit 1|hallex|hallux|toe 1|hind limb digit 1|preaxial digit of hindlimb|hallux; digitus primus [I]|pedal digit 1 UBERON:0003618 aorta tunica media biolink:AnatomicalEntity mondo The middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers. http://purl.obolibrary.org/obo/UBERON_0003618 tunica media of trunk of aortic tree|tunica media of aorta|trunk of aortic tree tunica media|dorsal aorta tunica media|tunica media of adult aorta|adult aorta tunica media|tunica media of dorsal aorta HGNC:1968 LYST biolink:OntologyClass mondo http://identifiers.org/hgnc/1968 UBERON:0003619 aorta tunica intima biolink:AnatomicalEntity mondo The innermost layer of the aorta, containing the endothelium and an inner elastic membrane. http://purl.obolibrary.org/obo/UBERON_0003619 tunica intima of adult aorta|dorsal aorta tunica intima|trunk of aortic tree tunica intima|tunica intima of dorsal aorta|tunica intima of trunk of aortic tree|tunica intima of aorta|adult aorta tunica intima UBERON:0003616 bronchus elastic tissue biolink:AnatomicalEntity mondo An elastic tissue that is part of a bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003616 bronchial trunk elastic tissue|elastic tissue of bronchi|elastic tissue of bronchial trunk|elastic tissue of bronchus|bronchi elastic tissue|textus connectivus elasticus of bronchi|textus connectivus elasticus of bronchial trunk|elastic connective tissue of bronchus|bronchi elastic connective tissue|bronchus textus connectivus elasticus|bronchial trunk elastic connective tissue|elastic connective tissue of bronchi|bronchial trunk textus connectivus elasticus|elastic connective tissue of bronchial trunk|bronchus elastic connective tissue|bronchi textus connectivus elasticus|textus connectivus elasticus of bronchus OBO:mondo#EXCLUDE Synonym to be removed from public release but maintained in edit version as record of external usage biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#EXCLUDE HGNC:1966 CHRNE biolink:OntologyClass mondo http://identifiers.org/hgnc/1966 UBERON:0003617 trachea elastic tissue biolink:AnatomicalEntity mondo An elastic tissue that is part of a trachea [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003617 cartilaginous trachea elastic tissue|windpipe textus connectivus elasticus|elastic connective tissue of windpipe|elastic tissue of vertebrate trachea|elastic tissue of cartilaginous trachea|windpipe elastic tissue|elastic connective tissue of vertebrate trachea|textus connectivus elasticus of cartilaginous trachea|textus connectivus elasticus of windpipe|windpipe elastic connective tissue|vertebrate trachea textus connectivus elasticus|cartilaginous trachea textus connectivus elasticus|cartilaginous trachea elastic connective tissue|elastic tissue of windpipe|elastic connective tissue of cartilaginous trachea|textus connectivus elasticus of vertebrate trachea|vertebrate trachea elastic connective tissue|vertebrate trachea elastic tissue HGNC:1967 CHRNG biolink:OntologyClass mondo http://identifiers.org/hgnc/1967 UBERON:0003614 blood vessel elastic tissue biolink:AnatomicalEntity mondo Elastic tissue layer that lines a blood vessel layer. http://purl.obolibrary.org/obo/UBERON_0003614 vascular elastic lamina|elastic laminae|vascular elastic laminae|blood vessel elastic connective tissue|textus connectivus elasticus of blood vessel|blood vessel textus connectivus elasticus|elastic tissue of blood vessel|elastic lamina|elastic connective tissue of blood vessel|vascular elastic tissue UBERON:0003615 lung elastic tissue biolink:AnatomicalEntity mondo Elastic tissue that is part of a lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003615 elastic tissue of lung|pulmonary elastic fiber|elastic connective tissue of lung|lung textus connectivus elasticus|lung elastic connective tissue|textus connectivus elasticus of lung HGNC:1965 CHRND biolink:OntologyClass mondo http://identifiers.org/hgnc/1965 CHEBI:22492 amino aldehyde biolink:ChemicalSubstance mondo Any aldehyde which contains an amino group. http://purl.obolibrary.org/obo/CHEBI_22492 HGNC:1974 CHUK biolink:OntologyClass mondo http://identifiers.org/hgnc/1974 HGNC:1971 CHST3 biolink:OntologyClass mondo http://identifiers.org/hgnc/1971 UBERON:0003620 manual digit 1 phalanx biolink:AnatomicalEntity mondo A phalanx that is part of a hand digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003620 hand digit 1 phalanx|phalanx of thumb|manual digit I phalanx|thumb phalanx|phalanx of hand digit 1|fore limb digit 1 phalanx|hand digit 1 phalanx MONDO:0016180 hematological disease associated with an acquired peripheral neuropathy biolink:Disease mondo Orphanet:209016|UMLS:CN200930 UMLS:CN200930|ORPHA:209016 http://purl.obolibrary.org/obo/MONDO_0016180 ordo_group_of_disorders MONDO:0016181 solid tumor associated with an acquired peripheral neuropathy biolink:Disease mondo Orphanet:209019|UMLS:CN200931 UMLS:CN200931|ORPHA:209019 http://purl.obolibrary.org/obo/MONDO_0016181 ordo_group_of_disorders MONDO:0016182 qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase biolink:Disease mondo Orphanet:209024 ORPHA:209024 http://purl.obolibrary.org/obo/MONDO_0016182 qualitative or quantitative defects of protein POMGNT1 ordo_group_of_disorders MONDO:0016183 qualitative or quantitative defects of protein glycosyltransferase-like biolink:Disease mondo Orphanet:209027 ORPHA:209027 http://purl.obolibrary.org/obo/MONDO_0016183 ordo_group_of_disorders MONDO:0004199 vulvar keratinizing squamous cell carcinoma biolink:Disease mondo UMLS:C2109334|NCIT:C40284|DOID:7363 A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls. NCIT:C40284|DOID:7363|UMLS:C2109334 http://purl.obolibrary.org/obo/MONDO_0004199 vulvar keratinizing squamous cell carcinoma MONDO:0004198 testicular yolk sac tumor, solid pattern biolink:Disease mondo NCIT:C39925|DOID:7360|UMLS:C1515312 A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli. DOID:7360|UMLS:C1515312|NCIT:C39925 http://purl.obolibrary.org/obo/MONDO_0004198 solid pattern testicular yolk sac tumor|testicular yolk sac tumor, solid pattern MONDO:0004195 thymic dysplasia biolink:Disease mondo DOID:7350|UMLS:C1331541|NCIT:C27802 The developmental arrest and architectural distortion of the thymus that results in immunodeficiency. UMLS:C1331541|NCIT:C27802|DOID:7350 http://purl.obolibrary.org/obo/MONDO_0004195 MONDO:0004194 ovarian stromal hyperthecosis biolink:Disease mondo UMLS:C1518743|NCIT:C40446|DOID:7347 A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels. NCIT:C40446|UMLS:C1518743|DOID:7347 http://purl.obolibrary.org/obo/MONDO_0004194 MONDO:0004197 male urethral cancer biolink:Disease mondo DOID:736|UMLS:C1518164|NCIT:C39867 A cancer involving a male urethra. DOID:736|UMLS:C1518164|NCIT:C39867 http://purl.obolibrary.org/obo/MONDO_0004197 malignant neoplasm of male urethra|male urethra cancer|Male urethral malignant neoplasm|cancer of male urethra|malignant male urethra neoplasm MONDO:0004196 rectal sarcomatoid carcinoma biolink:Disease mondo UMLS:C1335689|DOID:7356|NCIT:C5556 A biphasic rectal carcinoma with a spindle cell, sarcomatoid component. NCIT:C5556|UMLS:C1335689|DOID:7356 http://purl.obolibrary.org/obo/MONDO_0004196 sarcomatoid carcinoma of the rectum|rectum sarcomatoid carcinoma|rectal sarcomatoid carcinoma|sarcomatoid carcinoma of rectum|rectal spindle cell carcinoma|rectal sarcomatoid cancer MONDO:0004191 nephrogenic adenoma biolink:Disease mondo NCIT:C7413|DOID:7334|UMLS:C0334039 So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria. NCIT:C7413|NCIT:C97097|UMLS:C0334039|DOID:7334 http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma MONDO:0004190 nephrogenic adenoma of urinary bladder biolink:Disease mondo UMLS:C1336892|DOID:7333|NCIT:C7415 A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. NCIT:C7415|UMLS:C1336892|DOID:7333 http://purl.obolibrary.org/obo/MONDO_0004190 nephrogenic adenoma of the urinary bladder|urinary bladder nephrogenic adenoma MONDO:0004193 pediatric ovarian dysgerminoma biolink:Disease mondo UMLS:C1332988|NCIT:C6550|DOID:7340 A dysgerminoma that arises from the ovary and occurs in children. UMLS:C1332988|NCIT:C6550|DOID:7340 http://purl.obolibrary.org/obo/MONDO_0004193 pediatric dysgerminoma of ovary|dysgerminoma of ovary of childhood|childhood ovarian dysgerminoma|pediatric dysgerminoma of ovary|childhood dysgerminoma|childhood ovarian germinomatous germ cell tumor|childhood dysgerminoma of ovary HGNC:26090 CCDC40 biolink:OntologyClass mondo http://identifiers.org/hgnc/26090 MONDO:0004192 urethra cancer biolink:Disease mondo SCTID:363459007|DOID:734|ICD9:189.3|GARD:0009390|NCIT:C7507|ONCOTREE:UCA|ICD10:C68.0 A malignant neoplasm involving the urethra DOID:734|SNOMEDCT:363459007|NCIT:C7507 http://purl.obolibrary.org/obo/MONDO_0004192 malignant urethra neoplasm|malignant neoplasm of urethra|malignant tumour of urethra|malignant neoplasm of the urethra|malignant urethra tumor|urethral Ca|urethral cancer|malignant tumor of the urethra|urethra cancer|malignant tumor of urethra|cancer of urethra|malignant urethral neoplasm|malignant urethral tumor ECTO:9001935 oxidising agent exposure biolink:OntologyClass mondo An exposure to oxidising agent. http://purl.obolibrary.org/obo/ECTO_9001935 exposure to oxidising agent MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin biolink:Disease mondo Orphanet:209044 ORPHA:209044 http://purl.obolibrary.org/obo/MONDO_0016188 ordo_group_of_disorders MONDO:0016189 qualitative or quantitative defects of filamin C biolink:Disease mondo Orphanet:209047 ORPHA:209047 http://purl.obolibrary.org/obo/MONDO_0016189 qualitative or quantitative defects of filamin type C ordo_group_of_disorders MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 biolink:Disease mondo Orphanet:209030 ORPHA:209030 http://purl.obolibrary.org/obo/MONDO_0016184 qualitative or quantitative defects of protein O-mannosyltransferase type 1 ordo_group_of_disorders MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 biolink:Disease mondo Orphanet:209033 ORPHA:209033 http://purl.obolibrary.org/obo/MONDO_0016185 qualitative or quantitative defects of protein O-mannosyltransferase type 2 ordo_group_of_disorders MONDO:0016186 qualitative or quantitative defects of myofibrillar proteins biolink:Disease mondo Orphanet:209038 ORPHA:209038 http://purl.obolibrary.org/obo/MONDO_0016186 ordo_group_of_disorders MONDO:0016187 qualitative or quantitative defects of desmin biolink:Disease mondo Orphanet:209041 ORPHA:209041 http://purl.obolibrary.org/obo/MONDO_0016187 ordo_group_of_disorders ECTO:0001566 cadmium molecular entity exposure biolink:OntologyClass mondo An exposure to cadmium molecular entity. http://purl.obolibrary.org/obo/ECTO_0001566 exposure to cadmium molecular entity MONDO:0016170 chronic polyradiculoneuropathy biolink:Disease mondo Orphanet:208978|ICD10:G61.8 Chronic form of polyradiculoneuropathy. ORPHA:208978 http://purl.obolibrary.org/obo/MONDO_0016170 polyradiculoneuropathy, chronic ordo_group_of_disorders MONDO:0016171 polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies biolink:Disease mondo ICD10:G61.8|Orphanet:208981 ORPHA:208981 http://purl.obolibrary.org/obo/MONDO_0016171 ordo_disease MONDO:0016172 acquired sensory ganglionopathy biolink:Disease mondo Orphanet:208984 An instance of sensory ganglionopathy that is acquired during the lifetime of the individual. ORPHA:208984 http://purl.obolibrary.org/obo/MONDO_0016172 acquired sensory ganglionopathy|acquired sensory neuronopathy ordo_group_of_disorders MONDO:0041154 disease of neck of urinary bladder biolink:Disease mondo SCTID:236644005 SNOMEDCT:236644005 http://purl.obolibrary.org/obo/MONDO_0041154 functional disorder of bladder neck and sphincter mechanism ECTO:9001942 food additive exposure biolink:OntologyClass mondo An exposure to food additive. http://purl.obolibrary.org/obo/ECTO_9001942 exposure to food additive ECTO:9001943 food acidity regulator exposure biolink:OntologyClass mondo An exposure to food acidity regulator. http://purl.obolibrary.org/obo/ECTO_9001943 exposure to food acidity regulator MONDO:0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy biolink:Disease mondo UMLS:CN200929|Orphanet:209007 ORPHA:209007|UMLS:CN200929 http://purl.obolibrary.org/obo/MONDO_0016177 ordo_group_of_disorders ECTO:0001571 mercury molecular entity exposure biolink:OntologyClass mondo An exposure to mercury molecular entity. http://purl.obolibrary.org/obo/ECTO_0001571 exposure to mercury molecular entity MONDO:0016178 peripheral neuropathy associated with monoclonal gammopathy biolink:Disease mondo Orphanet:209010 ORPHA:209010 http://purl.obolibrary.org/obo/MONDO_0016178 ordo_group_of_disorders MONDO:0016179 acquired amyloid peripheral neuropathy biolink:Disease mondo Orphanet:209013 ORPHA:209013 http://purl.obolibrary.org/obo/MONDO_0016179 ordo_group_of_disorders MONDO:0016173 non-paraneoplastic sensory ganglionopathy biolink:Disease mondo Orphanet:208989 ORPHA:208989 http://purl.obolibrary.org/obo/MONDO_0016173 non-paraneoplastic sensory neuronopathy ordo_group_of_disorders MONDO:0016174 paraneoplastic sensory ganglionopathy biolink:Disease mondo Orphanet:208999 ORPHA:208999 http://purl.obolibrary.org/obo/MONDO_0016174 paraneoplastic sensory neuronopathy ordo_group_of_disorders MONDO:0016175 cutis laxa biolink:Disease mondo COHD:4242416|Orphanet:209|MedDRA:10011692|MESH:D003483|ICD10:Q82.8|GARD:0006227|SCTID:58588007|DOID:3144|NCIT:C84663|UMLS:C0010495|OMIMPS:123700 Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity. MESH:D003483|MEDDRA:10011692|ORPHA:209|DOID:3144|UMLS:C0010495|SNOMEDCT:58588007|NCIT:C84663 http://purl.obolibrary.org/obo/MONDO_0016175 loose skin|cutis laxa|elastolysis|generalized elastolysis gard_rare|ordo_group_of_disorders MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy biolink:Disease mondo Orphanet:209004|ICD10:G61.8 ORPHA:209004 http://purl.obolibrary.org/obo/MONDO_0016176 ordo_disease MONDO:0016160 X-linked intellectual disability-epilepsy syndrome biolink:Disease mondo UMLS:CN226857|Orphanet:2076 ORPHA:2076|UMLS:CN226857 http://purl.obolibrary.org/obo/MONDO_0016160 ordo_group_of_disorders MONDO:0016161 cerebral gigantism-jaw cysts syndrome biolink:Disease mondo SCTID:725418006|GARD:0001206|UMLS:CN200907|Orphanet:2081|ICD10:Q04.8 Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. ORPHA:2081|UMLS:CN200907|SNOMEDCT:725418006 http://purl.obolibrary.org/obo/MONDO_0016161 Cramer Niederdellmann syndrome|cerebral gigantism jaw cysts|Cramer-Niederdellmann syndrome ordo_malformation_syndrome|gard_rare MONDO:0041161 endometrial hyperplasia biolink:Disease mondo SCTID:237072009|NCIT:C3013|HP:0040298|UMLS:C0014173 A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia). NCIT:C3013|UMLS:C0014173|SNOMEDCT:237072009 http://purl.obolibrary.org/obo/MONDO_0041161 hyperplasia of the endometrium|hyperplasia of endometrium|endometrial hyperplasia MONDO:0004177 benign urethral neoplasm biolink:Disease mondo COHD:196377|SCTID:92466006|NCIT:C3619|ICD9:223.81|DOID:730 Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. NCIT:C3619|DOID:730|SNOMEDCT:92466006 http://purl.obolibrary.org/obo/MONDO_0004177 benign urethral tumor|benign urethral neoplasm|benign urethra neoplasm|urethra benign neoplasm|urethral benign neoplasm|benign neoplasm of the urethra|benign neoplasm of urethra|benign urethra tumor|neoplasm. urethra|benign tumor of the urethra|benign tumor of urethra|benign urethral neoplasm NOS|neoplasm of urethra MONDO:0004176 childhood extraosseous osteosarcoma biolink:Disease mondo DOID:7297|UMLS:C1332968|NCIT:C27376 An osteosarcoma arising from the soft tissue, and occurring during childhood. DOID:7297|UMLS:C1332968|NCIT:C27376 http://purl.obolibrary.org/obo/MONDO_0004176 childhood extraosseous osteosarcoma|pediatric extraosseous osteosarcoma|childhood extraskeletal osteosarcoma|pediatric extraskeletal osteosarcoma|pediatric extraosseous osteosarcoma|extraosseous osteosarcoma of childhood MONDO:0041167 carcinoid crisis biolink:Disease mondo UMLS:C0342569|SCTID:237833006 A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia. UMLS:C0342569|SNOMEDCT:237833006 http://purl.obolibrary.org/obo/MONDO_0041167 carcinoid crisis MONDO:0004179 obsolete astroblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004179 MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern biolink:Disease mondo UMLS:C1515303|NCIT:C39927|DOID:7302 A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli. NCIT:C39927|DOID:7302|UMLS:C1515303 http://purl.obolibrary.org/obo/MONDO_0004178 endodermal sinus pattern testicular yolk sac tumor|testicular yolk sac tumor, endodermal sinus pattern MONDO:0004173 adenocarcinoma of skene gland origin biolink:Disease mondo UMLS:C1527427|DOID:7284|NCIT:C39863 A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma. DOID:7284|UMLS:C1527427|NCIT:C39863 http://purl.obolibrary.org/obo/MONDO_0004173 Skene gland carcinoma|carcinoma of paraurethral gland|carcinoma of Skene's gland|carcinoma of the paraurethral gland|adenocarcinoma of Skene gland origin|adenocarcinoma of Skene gland|paraurethral gland adenocarcinoma|paraurethral gland carcinoma|carcinoma of Skene gland MONDO:0004172 uterine corpus adenocarcinofibroma biolink:Disease mondo DOID:7281 A adenocarcinofibroma that involves the body of uterus. DOID:7281 http://purl.obolibrary.org/obo/MONDO_0004172 adenocarcinofibroma of body of uterus|body of uterus adenocarcinofibroma MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma biolink:Disease mondo DOID:7293|UMLS:C1513711|NCIT:C8717 DOID:7293|UMLS:C1513711|NCIT:C8717 http://purl.obolibrary.org/obo/MONDO_0004175 MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma biolink:Disease mondo ICDO:8382/3|UMLS:C1336907|NCIT:C27839|DOID:7289 An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium. UMLS:C1336907|DOID:7289|NCIT:C27839 http://purl.obolibrary.org/obo/MONDO_0004174 secretory uterine corpus endometrioid adenocarcinoma|endometrial endometrioid adenocarcinoma, secretory variant MONDO:0004171 obsolete congenital epulis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004171 MONDO:0004170 nodular episcleritis biolink:Disease mondo DOID:728|ICD9:379.02|COHD:433207|SCTID:70558001|ICD10:H15.12|UMLS:C0155352 DOID:728|UMLS:C0155352|SNOMEDCT:70558001 http://purl.obolibrary.org/obo/MONDO_0004170 MONDO:0016166 genetic hyperparathyroidism biolink:Disease mondo Orphanet:208596 Genetic hyperparathyroidism. ORPHA:208596 http://purl.obolibrary.org/obo/MONDO_0016166 genetic hyperparathyroidism ordo_group_of_disorders MONDO:0016167 optic pathway glioma biolink:Disease mondo Orphanet:2086|UMLS:C0796418|NCIT:C8567|GARD:0004107|ICD10:D33.3 Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1). ORPHA:2086|UMLS:C0796418|NCIT:C8567 http://purl.obolibrary.org/obo/MONDO_0016167 glioma of the optic tract|glioma of optic tract|optic pathway glioma|visual pathway glioma|optic tract glioma|glioma of visual pathway|glioma of the visual pathway gard_rare|ordo_disease MONDO:0016168 cryopyrin-associated periodic syndrome biolink:Disease mondo ICD9:759.89|MESH:D056587|Orphanet:208650|MedDRA:10068850|ICD10:E85.0|SCTID:430079001|UMLS:C2316212|NCIT:C84657|GARD:0010927 Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). NCIT:C84657|MEDDRA:10068850|SNOMEDCT:430079001|UMLS:C2316212|MESH:D056587|ORPHA:208650 http://purl.obolibrary.org/obo/MONDO_0016168 Cryopyrinopathy|caps ordo_group_of_disorders MONDO:0016169 chronic acquired demyelinating polyneuropathy biolink:Disease mondo Orphanet:208974 Chronic form of acquired peripheral neuropathy. ORPHA:208974 http://purl.obolibrary.org/obo/MONDO_0016169 acquired peripheral neuropathy, chronic|chronic acquired peripheral neuropathy|CADP ordo_group_of_disorders MONDO:0016162 bilateral frontal polymicrogyria biolink:Disease mondo Orphanet:208444|ICD10:Q04.3|GARD:0010783 Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person. ORPHA:208444 http://purl.obolibrary.org/obo/MONDO_0016162 gard_rare|ordo_clinical_subtype MONDO:0016163 autosomal dominant cerebellar ataxia type II biolink:Disease mondo UMLS:CN229031|Orphanet:208508 ORPHA:208508|UMLS:CN229031 http://purl.obolibrary.org/obo/MONDO_0016163 ADCA2|ADCAII|autosomal dominant cerebellar ataxia type II|autosomal dominant cerebellar ataxia type 2 ordo_group_of_disorders MONDO:0016164 herpetiform pemphigus biolink:Disease mondo UMLS:CN226858|ICD10:L10.2|Orphanet:208524 Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated. UMLS:CN226858|ORPHA:208524 http://purl.obolibrary.org/obo/MONDO_0016164 ordo_disease MONDO:0016165 genetic hypoparathyroidism biolink:Disease mondo Orphanet:208593 Genetic hypoparathyroidism. ORPHA:208593 http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism ordo_group_of_disorders MONDO:0016150 qualitative or quantitative defects of integrin alpha-7 biolink:Disease mondo Orphanet:207098 ORPHA:207098 http://purl.obolibrary.org/obo/MONDO_0016150 Integrinopathy ordo_group_of_disorders MONDO:0004188 iris spindle cell melanoma biolink:Disease mondo NCIT:C6098|DOID:7328|UMLS:C1334287 A spindle cell melanoma that involves the iris. UMLS:C1334287|DOID:7328|NCIT:C6098 http://purl.obolibrary.org/obo/MONDO_0004188 spindle cell melanoma of iris|spindle cell melanoma of the iris|iris spindle cell melanoma MONDO:0004187 nodular fasciitis biolink:Disease mondo UMLS:C0410005|SCTID:400138001|NCIT:C3827|DOID:7327|Orphanet:477742|ICD10:M72.4|ICD9:728.79 A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. DOID:7327|UMLS:C0410005|NCIT:C3827|ORPHA:477742|SNOMEDCT:400138001 http://purl.obolibrary.org/obo/MONDO_0004187 pseudosarcomatous fasciitis|pseudosarcomatous fibromatosis|nodular fasciitis|fasciitis - nodular ordo_disease MONDO:0004189 esophageal tuberculosis biolink:Disease mondo ICD9:017.83|ICD9:017.8|ICD9:017.81|SCTID:15284007|UMLS:C0152902|ICD9:017.80|DOID:7332 A tuberculosis that involves the esophagus. DOID:7332|UMLS:C0152902|SNOMEDCT:15284007 http://purl.obolibrary.org/obo/MONDO_0004189 esophagus tuberculosis|tuberculosis of esophagus CHEBI:83403 monochlorobenzenes biolink:ChemicalSubstance mondo Any member of the class of chlorobenzenes containing a mono- or poly-substituted benzene ring in which only one substituent is chlorine. http://purl.obolibrary.org/obo/CHEBI_83403 MONDO:0004184 urethral disease biolink:Disease mondo UMLS:C0041969|MESH:D014522|DOID:732|NCIT:C26903|ICD10:N36.9|SCTID:4985009 A disease involving the urethra. SNOMEDCT:4985009|MESH:D014522|DOID:732|UMLS:C0041969|NCIT:C26903 http://purl.obolibrary.org/obo/MONDO_0004184 disease of urethra|urethra disease or disorder|disorder of urethra|urethra disease|disorder of urethra|disease or disorder of urethra|urethra disorder MONDO:0004183 axonal neuropathy biolink:Disease mondo DOID:7319|SCTID:60703000|NCIT:C27301|UMLS:C0270921 Any nerve disorder affecting the axon of a nerve. DOID:7319|SNOMEDCT:60703000|UMLS:C0270921|NCIT:C27301 http://purl.obolibrary.org/obo/MONDO_0004183 axonal neuropathy|peripheral neuropathy of axon|axon peripheral neuropathy MONDO:0004186 cranial nodular fasciitis biolink:Disease mondo UMLS:C1333162|NCIT:C27248|DOID:7326 A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. DOID:7326|UMLS:C1333162|NCIT:C27248 http://purl.obolibrary.org/obo/MONDO_0004186 cranial pseudosarcomatous fasciitis|cranial nodular fasciitis MONDO:0004185 ovarian serous cystadenofibroma biolink:Disease mondo NCIT:C40032|UMLS:C0877572|DOID:7320 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. DOID:7320|NCIT:C40032|UMLS:C0877572 http://purl.obolibrary.org/obo/MONDO_0004185 ovarian serous cystadenofibroma|ovary serous cystadenofibroma MONDO:0004180 benign urinary system neoplasm biolink:Disease mondo COHD:78706|ICD9:223.9|ICD9:223.89|NCIT:C4893|SCTID:92468007|MESH:D014571|DOID:731 A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. MESH:D014571|SNOMEDCT:92468007|DOID:731|NCIT:C4893 http://purl.obolibrary.org/obo/MONDO_0004180 benign urinary tract neoplasm|renal system benign neoplasm|neoplasm of urinary system|benign urinary system neoplasm|benign neoplasm of the urinary tract|benign neoplasm of urinary tract|benign urinary tract tumor|tumor of the urinary system|benign tumor of the urinary tract|urinary tract neoplasm|tumor of urinary tract|benign tumor of urinary tract|urinary system benign neoplasm MONDO:0004182 stage IVb bladder cancer biolink:Disease mondo DOID:7315|UMLS:C1336362|NCIT:C9368 Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis. NCIT:C9368|UMLS:C1336362|DOID:7315 http://purl.obolibrary.org/obo/MONDO_0004182 Jewett-Marshall stage D2 urinary bladder cancer|Jewett-Marshall stage D2 urinary bladder carcinoma|Jewett-Marshall bladder cancer|stage IVB urinary bladder cancer|Jewett-Marshall stage D1 bladder cancer|Jewett-Marshall stage D2 bladder cancer|stage IVB urinary bladder carcinoma|stage IVB bladder cancer MONDO:0004181 breast adenomyoepithelial adenosis biolink:Disease mondo NCIT:C40391|DOID:7312|UMLS:C1511283 An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present. NCIT:C40391|UMLS:C1511283|DOID:7312 http://purl.obolibrary.org/obo/MONDO_0004181 MONDO:0016159 Gemignani syndrome biolink:Disease mondo GARD:0002451|Orphanet:2074|UMLS:C2931587|MESH:C537678 UMLS:C2931587|ORPHA:2074|MESH:C537678 http://purl.obolibrary.org/obo/MONDO_0016159 spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness|spinocerebellar ataxia-amyotrophy-deafness syndrome gard_rare|ordo_malformation_syndrome HP:0005599 Hypopigmentation of hair biolink:PhenotypicFeature mondo UMLS:C3278401 http://purl.obolibrary.org/obo/HP_0005599 Loss of hair color|Hair hypopigmentation hposlim_core MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan biolink:Disease mondo Orphanet:207113 ORPHA:207113 http://purl.obolibrary.org/obo/MONDO_0016155 secondary dystroglycanopathy|secondary alpha-dystroglycanopathy ordo_group_of_disorders MONDO:0016156 qualitative or quantitative defects of FKRP biolink:Disease mondo Orphanet:207119 ORPHA:207119 http://purl.obolibrary.org/obo/MONDO_0016156 ordo_group_of_disorders MONDO:0016157 qualitative or quantitative defects of fukutin biolink:Disease mondo Orphanet:207122 ORPHA:207122 http://purl.obolibrary.org/obo/MONDO_0016157 ordo_group_of_disorders MONDO:0016158 narcolepsy-cataplexy syndrome biolink:Disease mondo EFO:0000614|MedDRA:10028713|ICD9:347.0|GARD:0007162|Orphanet:2073|ICD10:G47.41|ICD10:G47.419|ICD10:G47.4 Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). MEDDRA:10028713|ORPHA:2073|UMLS:C0751362 http://purl.obolibrary.org/obo/MONDO_0016158 Gélineau disease|narcolepsy with cataplexy|narcolepsy-cataplexy syndrome|GC)lineau disease|Gelineau's syndrome|narcoleptic syndrome|paroxysmal sleep|Gelineau syndrome gard_rare|ordo_disease MONDO:0016151 qualitative or quantitative defects of perlecan biolink:Disease mondo Orphanet:207101 ORPHA:207101 http://purl.obolibrary.org/obo/MONDO_0016151 ordo_group_of_disorders MONDO:0016152 qualitative or quantitative defects of calpain biolink:Disease mondo Orphanet:207104 ORPHA:207104 http://purl.obolibrary.org/obo/MONDO_0016152 ordo_group_of_disorders MONDO:0016153 qualitative or quantitative defects of TRIM32 biolink:Disease mondo Orphanet:207107 ORPHA:207107 http://purl.obolibrary.org/obo/MONDO_0016153 ordo_group_of_disorders MONDO:0016154 qualitative or quantitative defects of myotubularin biolink:Disease mondo Orphanet:207110 ORPHA:207110 http://purl.obolibrary.org/obo/MONDO_0016154 ordo_group_of_disorders MONDO:0100000 MED12-related intellectual disability syndrome biolink:Disease mondo An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity. http://purl.obolibrary.org/obo/MONDO_0100000 X-linked syndromic intellectual disability caused by mutation in MED12|MED12 X-linked syndromic intellectual disability MONDO:0100001 alpha-gal syndrome biolink:Disease mondo An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal). http://purl.obolibrary.org/obo/MONDO_0100001 allergic galactose-alpha-1,3-galactose disease MONDO:0043762 tubal pregnancy biolink:Disease mondo SCTID:79586000|NCIT:C92946|MESH:D011274 An abnormal pregnancy in which the conception is implanted in the fallopian tube. MESH:D011274|NCIT:C92946|SNOMEDCT:79586000 http://purl.obolibrary.org/obo/MONDO_0043762 Pregnancies, tubal|fallopian pregnancy|fallopian tube pregnancy|tubal pregnancy|ectopic pregnancy of fallopian tube|tubal Pregnancies|fallopian tube ectopic pregnancy MONDO:0100002 food protein-induced allergic proctocolitis biolink:Disease mondo A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins. http://purl.obolibrary.org/obo/MONDO_0100002 FPIPC|allergic proctocolitis|milk protein proctocololitis MONDO:0043765 presbycusis biolink:Disease mondo NCIT:C116367|SCTID:49526009|MESH:D011304 Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process. NCIT:C116367|MESH:D011304|SNOMEDCT:49526009 http://purl.obolibrary.org/obo/MONDO_0043765 senile deafness|presbycusis|age-related hearing loss|presbyacusia|Presbycuses HGNC:26054 SLC25A38 biolink:OntologyClass mondo http://identifiers.org/hgnc/26054 MONDO:0100004 mast cell activation syndrome biolink:Disease mondo GARD:0012981 A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS). http://purl.obolibrary.org/obo/MONDO_0100004 disorder of mast cell activation|disorder of mast cell activation|MACS|mast cell activation disease MONDO:0100005 primary mast cell activation syndrome biolink:Disease mondo Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected. http://purl.obolibrary.org/obo/MONDO_0100005 primary MACS MONDO:0100006 secondary mast cell activation syndrome biolink:Disease mondo Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells. http://purl.obolibrary.org/obo/MONDO_0100006 secondary MACS GO:0008484 sulfuric ester hydrolase activity biolink:OntologyClass mondo Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2. http://purl.obolibrary.org/obo/GO_0008484 sulphuric ester hydrolase activity|sulfatase activity MONDO:0100008 food protein-induced enterocolitis syndrome biolink:Disease mondo An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated. http://purl.obolibrary.org/obo/MONDO_0100008 FPIES|delayed food allergy GO:0008483 transaminase activity biolink:OntologyClass mondo Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid. http://purl.obolibrary.org/obo/GO_0008483 aminotransferase activity MONDO:0043759 abdominal ectopic pregnancy biolink:Disease mondo MESH:D011269|SCTID:82661006|NCIT:C92921 Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs. MESH:D011269|NCIT:C92921|SNOMEDCT:82661006 http://purl.obolibrary.org/obo/MONDO_0043759 abdomen ectopic pregnancy|Pregnancies, abdominal|ectopic pregnancy of abdomen|abdominal pregnancy|abdominal Pregnancies|intra-abdominal pregnancy HGNC:26050 TMEM70 biolink:OntologyClass mondo http://identifiers.org/hgnc/26050 HGNC:14074 FMN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14074 HGNC:14082 ANLN biolink:OntologyClass mondo http://identifiers.org/hgnc/14082 MONDO:0100010 tendinopathy biolink:Disease mondo EFO:1001434|SCTID:68172002 Disorders that are causes by overuse of tendons. SNOMEDCT:68172002 http://purl.obolibrary.org/obo/MONDO_0100010 disorder of tendon|disease or disorder of tendon|disorder of tendon|disease of tendon|tendon disease|tendon disease or disorder MONDO:0100011 tendinosis biolink:Disease mondo SCTID:724152009 The chronic degeneration of a tendon without inflammation. SNOMEDCT:724152009 http://purl.obolibrary.org/obo/MONDO_0100011 MONDO:0100012 paratenonitis biolink:Disease mondo Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium. http://purl.obolibrary.org/obo/MONDO_0100012 MONDO:0100013 paratenonitis with tendinosis biolink:Disease mondo Paratenonitis associated with intratendinous degeneration. http://purl.obolibrary.org/obo/MONDO_0100013 MONDO:0100014 autoimmune retinopathy biolink:Disease mondo UMLS:C3203657|SCTID:724809006|GARD:0012034 An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. SNOMEDCT:724809006|UMLS:C3203657 http://purl.obolibrary.org/obo/MONDO_0100014 AIR|autoimmune disease of retina|retina autoimmune disease MONDO:0041114 peripheral ischemia biolink:Disease mondo SCTID:233958001 Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries. SNOMEDCT:233958001 http://purl.obolibrary.org/obo/MONDO_0041114 peripheral ischemic vascular disease|peripheral ischemia MONDO:0100015 adult-onset segmental dystonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0100015 an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years).|DYT-GNAL MONDO:0043775 respiratory paralysis biolink:Disease mondo MESH:D012133|SCTID:64228003 Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders. MESH:D012133|SNOMEDCT:64228003 http://purl.obolibrary.org/obo/MONDO_0043775 paralysis, respiratory muscle|paralysis of diaphragm|respiratory muscle paralysis|diaphragmatic paralysis|paralysis, respiratory|muscle paralysis, respiratory|paralysis, diaphragmatic|muscle paralyses, respiratory MONDO:0100016 early-onset generalized dystonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0100016 early-onset, generalized dystonia with mild syndromic features|A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population.|early-onset generalized isolated dystonia|DYT-KMT2B MONDO:0043771 radiodermatitis biolink:Disease mondo EFO:1001840|SCTID:49084001|MESH:D011855|NCIT:C3349 A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. MESH:D011855|NCIT:C3349|SNOMEDCT:49084001 http://purl.obolibrary.org/obo/MONDO_0043771 radiation recall dermatitis|radiation-induced Dermatitides|radiation recall Dermatitides|recall reactions, radiation|Radiodermatitides|reactions, radiation recall|reaction, radiation recall|dermatitis radiation|radiation recall reactions|radiation-induced dermatitis|radiation recall reaction|Dermatitides, radiation-induced|radiation dermatitis|dermatitis, radiation recall|dermatitis, radiation-induced|radiation induced dermatitis|Dermatitides, radiation recall|radiodermatitis|dermatitis, radiation induced|recall reaction, radiation MONDO:0100019 ECHS1-related paroxysmal dyskinesia biolink:Disease mondo A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years. http://purl.obolibrary.org/obo/MONDO_0100019 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia MONDO:0043768 thrombocytopenic purpura biolink:Disease mondo MESH:D011696|NCIT:C26870|UMLS:C0857305|SCTID:302873008 Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. NCIT:C26870|UMLS:C0857305|MESH:D011696|SNOMEDCT:302873008 http://purl.obolibrary.org/obo/MONDO_0043768 Purpuras, Thrombopenic|Purpuras, thrombocytopenic|purpura, Thrombopenic|Thrombopenic purpura|thrombocytopenic Purpuras|thrombocytopenic purpura|Thrombopenic Purpuras MONDO:0100020 atypical childhood epilepsy with centrotemporal spikes biolink:Disease mondo A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit. http://purl.obolibrary.org/obo/MONDO_0100020 pseudo-Lennox syndrome|atonic-benign childhood epilepsy with centrotemporal spikes|atypical benign partial epilepsy of childhood MONDO:0100021 photosensitive occipital lobe epilepsy biolink:Disease mondo A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty. http://purl.obolibrary.org/obo/MONDO_0100021 MONDO:0100022 neonatal/infantile epilepsy syndrome biolink:Disease mondo http://orcid.org/0000-0001-8486-0558 An epilepsy sydrome that has an onset during the neonatal or infantile stage of life. http://purl.obolibrary.org/obo/MONDO_0100022 obsoletion_candidate MONDO:0100023 self-limited familial and non-familial neonatal seizures biolink:Disease mondo A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. http://purl.obolibrary.org/obo/MONDO_0100023 self-limited familial neonatal-infantile epilepsy HGNC:26034 SDHAF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26034 MONDO:0100024 self-limited familial and non-familial infantile seizures biolink:Disease mondo This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life. http://purl.obolibrary.org/obo/MONDO_0100024 MONDO:0100025 epilepsy of infancy with migrating focal seizures biolink:Disease mondo UMLS:C4518639|SCTID:733195008 This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children. UMLS:C4518639|SNOMEDCT:733195008 http://purl.obolibrary.org/obo/MONDO_0100025 MONDO:0043786 serositis biolink:Disease mondo NCIT:C70428|MESH:D012700|SCTID:370469003 Inflammation of a serous membrane. MESH:D012700|SNOMEDCT:370469003|NCIT:C70428 http://purl.obolibrary.org/obo/MONDO_0043786 serositis|inflammation of serous membrane|Serositides|serous membrane inflammation HGNC:26031 PIGV biolink:OntologyClass mondo http://identifiers.org/hgnc/26031 MONDO:0100026 myoclonic encephalopathy in non-progressive disorder biolink:Disease mondo This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen. http://purl.obolibrary.org/obo/MONDO_0100026 MONDO:0100027 febrile seizures plus, genetic epilepsy with febrile seizures plus biolink:Disease mondo These epilepsy syndromes are characterized by the presence of febrile seizures in an individual that may continue past the usual age where these are expected to resolve and/or be accompanied by afebrile seizures that may be generalized seizures (tonic-clonic, atonic, myoclonic, myoclonic-atonic or absence) or focal seizures. Febrile seizures plus and genetic epilepsy with febrile seizures plus are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to these syndromes, with implications for specific genetic counseling, due to the variable severity of the resulting epilepsy in different family members. http://purl.obolibrary.org/obo/MONDO_0100027 HGNC:26038 TMEM127 biolink:OntologyClass mondo http://identifiers.org/hgnc/26038 MONDO:0100028 immune epilepsy biolink:Disease mondo Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy. http://purl.obolibrary.org/obo/MONDO_0100028 MONDO:0043783 sclerema neonatorum biolink:Disease mondo MESH:D012593|NCIT:C35009|SCTID:206539008 A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life. SNOMEDCT:206539008|MESH:D012593|NCIT:C35009 http://purl.obolibrary.org/obo/MONDO_0043783 sclerema adiposum|underwood's disease|sclerema neonatorum MONDO:0100029 antibody mediated epilepsy biolink:Disease mondo An immune epilepsy where the underlying cause is antibody mediated. http://purl.obolibrary.org/obo/MONDO_0100029 MONDO:0043777 rhinophyma biolink:Disease mondo UMLS:C0035466|MESH:D012224|NCIT:C34989|SCTID:19877001 Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose. MESH:D012224|NCIT:C34989|UMLS:C0035466|SNOMEDCT:19877001 http://purl.obolibrary.org/obo/MONDO_0043777 Rhinophymas|rhinophyma|hypertrophic rosacea NCBITaxon:104454 Heterophyes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_104454 MONDO:0016191 qualitative or quantitative defects of titin biolink:Disease mondo Orphanet:209053 ORPHA:209053 http://purl.obolibrary.org/obo/MONDO_0016191 ordo_group_of_disorders MONDO:0016192 qualitative or quantitative defects of telethonin biolink:Disease mondo Orphanet:209056 ORPHA:209056 http://purl.obolibrary.org/obo/MONDO_0016192 ordo_group_of_disorders MONDO:0016193 qualitative or quantitative defects of alpha-actin biolink:Disease mondo Orphanet:209059 ORPHA:209059 http://purl.obolibrary.org/obo/MONDO_0016193 ordo_group_of_disorders MONDO:0016194 qualitative or quantitative defects of nebulin biolink:Disease mondo Orphanet:209182 ORPHA:209182 http://purl.obolibrary.org/obo/MONDO_0016194 ordo_group_of_disorders MONDO:0100030 adolescent/adult-onset epilepsy syndrome biolink:Disease mondo http://orcid.org/0000-0001-8486-0558 An epilepsy syndrome that has an onset during the adolescent or adult stage of life. http://purl.obolibrary.org/obo/MONDO_0100030 obsoletion_candidate MONDO:0100031 adolescent/adult onset autosomal dominant epilepsy with auditory features biolink:Disease mondo A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. http://purl.obolibrary.org/obo/MONDO_0100031 autosomal dominant partial/lateral temporal epilepsy with auditory features MONDO:0100032 familial temporal lobe epilepsy syndrome biolink:Disease mondo This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. http://purl.obolibrary.org/obo/MONDO_0100032 MONDO:0100033 metabolic epilepsy biolink:Disease mondo Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy. http://purl.obolibrary.org/obo/MONDO_0100033 MONDO:0016190 qualitative or quantitative defects of protein ZASP biolink:Disease mondo Orphanet:209050 ORPHA:209050 http://purl.obolibrary.org/obo/MONDO_0016190 ordo_group_of_disorders MONDO:0100034 cerebral folate deficiency biolink:Disease mondo Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system. http://purl.obolibrary.org/obo/MONDO_0100034 MONDO:0100035 structural epilepsy biolink:Disease mondo Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy. http://purl.obolibrary.org/obo/MONDO_0100035 MONDO:0100036 variable age onset epilepsy biolink:Disease mondo http://orcid.org/0000-0001-8486-0558|DOID:0050706 An epilepsy syndrome that has an onset during variable ages and stages of life. DOID:0050706 http://purl.obolibrary.org/obo/MONDO_0100036 variable age at onset electroclinical syndrome MONDO:0043797 spinal cord injury biolink:Disease mondo SCTID:90584004|EFO:1001919|MESH:D013119 Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.). SNOMEDCT:90584004|MESH:D013119 http://purl.obolibrary.org/obo/MONDO_0043797 injury of spinal cord|Contusions, spinal cord|spinal cord injury|traumatic myelopathy|post traumatic myelopathy|Traumas, spinal cord|Myelopathies, traumatic|cord Contusions, spinal|traumatic Myelopathies|spinal cord Traumas|post-traumatic myelopathy|cord laceration, spinal|myelopathy, traumatic|cord Transections, spinal|cord Traumas, spinal|spinal cord transection|post-traumatic Myelopathies|spinal cord Lacerations|spinal cord Contusions|cord injury, spinal|spinal cord laceration|cord trauma, spinal|spinal cord contusion|cord transection, spinal|cord Lacerations, spinal|cord Injuries, spinal|Injuries, spinal cord|spinal cord Transections|cord contusion, spinal|myelopathy, post-traumatic|trauma, spinal cord|injury, spinal cord|Myelopathies, post-traumatic|contusion, spinal cord|spinal cord trauma|Transections, spinal cord|Lacerations, spinal cord|laceration, spinal cord|transection, spinal cord MONDO:0100038 complex neurodevelopmental disorder biolink:Disease mondo A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). http://purl.obolibrary.org/obo/MONDO_0100038 MONDO:0100039 CDKL5 disorder biolink:Disease mondo GARD:0012173 A monogenic disease that has material basis in mutation in the CDKL5 gene. http://purl.obolibrary.org/obo/MONDO_0100039 CDKL5|CDKL5-related disorder|CDKL5 inherited genetic disease|inherited genetic disease caused by mutation in CDKL5 GO:0008482 sulfite oxidase activity biolink:OntologyClass mondo Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate. http://purl.obolibrary.org/obo/GO_0008482 sulphite oxidase activity|sulfite:oxygen oxidoreductase activity GO:0008480 sarcosine dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: sarcosine + H2O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein. http://purl.obolibrary.org/obo/GO_0008480 monomethylglycine dehydrogenase activity|sarcosine N-demethylase activity|sarcosine:acceptor oxidoreductase (demethylating)|sarcosine:(acceptor) oxidoreductase (demethylating) MONDO:0043789 serum sickness biolink:Disease mondo SCTID:72284000|UMLS:C0036830|NCIT:C79718|MESH:D012713|EFO:1001845 Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction. SNOMEDCT:72284000|MESH:D012713|UMLS:C0036830|NCIT:C79718 http://purl.obolibrary.org/obo/MONDO_0043789 transfusion reaction due to serum protein reaction|Sicknesses, serum|sickness, serum|protein sickness|serum reaction|serum sickness|serum Sicknesses|intoxication by serum MONDO:0016199 qualitative or quantitative defects of protein SERCA1 biolink:Disease mondo Orphanet:209199 ORPHA:209199 http://purl.obolibrary.org/obo/MONDO_0016199 ordo_group_of_disorders MONDO:0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) biolink:Disease mondo Orphanet:209185 ORPHA:209185 http://purl.obolibrary.org/obo/MONDO_0016195 ordo_group_of_disorders HGNC:14064 HDAC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/14064 MONDO:0016196 qualitative or quantitative defects of emerin biolink:Disease mondo Orphanet:209188 ORPHA:209188 http://purl.obolibrary.org/obo/MONDO_0016196 ordo_group_of_disorders MONDO:0016197 qualitative or quantitative defects of selenoprotein N1 biolink:Disease mondo Orphanet:209193 ORPHA:209193 http://purl.obolibrary.org/obo/MONDO_0016197 ordo_group_of_disorders MONDO:0016198 qualitative or quantitative defects of plectin biolink:Disease mondo Orphanet:209196 ORPHA:209196 http://purl.obolibrary.org/obo/MONDO_0016198 ordo_group_of_disorders MONDO:0004239 cervical keratinizing squamous cell carcinoma biolink:Disease mondo DOID:7483|NCIT:C40187|UMLS:C1517658 A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. NCIT:C40187|DOID:7483|UMLS:C1517658 http://purl.obolibrary.org/obo/MONDO_0004239 cervical keratinizing squamous cell carcinoma MONDO:0004236 duodenal somatostatinoma biolink:Disease mondo DOID:7479|NCIT:C27407|UMLS:C1333320 A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures. DOID:7479|UMLS:C1333320|NCIT:C27407 http://purl.obolibrary.org/obo/MONDO_0004236 duodenal delta cell somatostatin producing tumor|duodenal somatostatinoma|duodenal somatostatin-producing NET|duodenal somatostatin-producing neuroendocrine tumor|duodenal somatostatin producing tumor MONDO:0006899 pericoronitis biolink:Disease mondo UMLS:C0031055|SCTID:22240003|DOID:3671|MESH:D010497|EFO:1001098|MedDRA:10034504 Inflammation of the gingiva surrounding the crown of a tooth. DOID:3671|MESH:D010497|UMLS:C0031055|SNOMEDCT:22240003 http://purl.obolibrary.org/obo/MONDO_0006899 MONDO:0004235 diverticulitis biolink:Disease mondo MESH:D004238|NCIT:C26752|SCTID:307496006|EFO:1001460|UMLS:C0012813|DOID:7475 An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis. DOID:7475|UMLS:C0012813|SNOMEDCT:307496006|MESH:D004238|NCIT:C26752 http://purl.obolibrary.org/obo/MONDO_0004235 inflammation of digestive tract diverticulum|digestive tract diverticulum inflammation MONDO:0006897 periapical granuloma biolink:Disease mondo SCTID:81407003|MedDRA:10060985|MESH:D010484|EFO:1001096|DOID:4617|UMLS:C0031029 Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment. SNOMEDCT:81407003|DOID:4617|MESH:D010484|UMLS:C0031029 http://purl.obolibrary.org/obo/MONDO_0006897 apical granuloma|periapical granuloma MONDO:0004238 petrous apex meningioma biolink:Disease mondo DOID:7482|NCIT:C5271|UMLS:C1335396 A meningioma that affects the petrous apex. DOID:7482|NCIT:C5271|UMLS:C1335396 http://purl.obolibrary.org/obo/MONDO_0004238 petrous ridge meningioma|meningioma of the petrous ridge|meningioma of petrous apex|meningioma of petrous ridge|meningioma of the petrous apex MONDO:0006898 periarthritis biolink:Disease mondo DOID:2964|MedDRA:10034464|UMLS:C0031037|ICD10:M77.9|SCTID:50921008|EFO:1001097|MESH:D010489 Inflammation of the tissues around a joint. (Dorland, 27th ed) MESH:D010489|SNOMEDCT:50921008|DOID:2964|UMLS:C0031037 http://purl.obolibrary.org/obo/MONDO_0006898 MONDO:0004237 large cell carcinoma with rhabdoid phenotype biolink:Disease mondo DOID:7480|UMLS:C1265997|NCIT:C6876|ICDO:8014/3|ONCOTREE:RLCLC A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells. DOID:7480|UMLS:C1265997|NCIT:C6876 http://purl.obolibrary.org/obo/MONDO_0004237 RLCLC|large cell lung carcinoma with rhabdoid phenotype|large cell carcinoma with rhabdoid phenotype (morphologic abnormality) MONDO:0006895 penile neoplasm biolink:Disease mondo ICD9:239.5|DOID:11624|ONCOTREE:PENIS|NCIT:C3317|EFO:1001094|MESH:D010412|SCTID:126896003|MedDRA:10061913|UMLS:C0030849 A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma. UMLS:C0030849|MESH:D010412|SNOMEDCT:126896003|DOID:11624|NCIT:C3317 http://purl.obolibrary.org/obo/MONDO_0006895 penile neoplasm|tumor of the penis|neoplasm of penis|penis neoplasm (disease)|penile tumor|penile neoplasms|neoplasm of the penis|tumor of penis|penis tumor|penis neoplasm MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma biolink:Disease mondo UMLS:C1519486|DOID:7461|NCIT:C40357 A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization. UMLS:C1519486|DOID:7461|NCIT:C40357 http://purl.obolibrary.org/obo/MONDO_0004232 squamous cell breast carcinoma, large cell keratinizing variant MONDO:0004231 spindle cell variant squamous cell breast carcinoma biolink:Disease mondo UMLS:C1519487|NCIT:C40358|ONCOTREE:MASCC|DOID:7460 A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells. UMLS:C1519487|DOID:7460|NCIT:C40358 http://purl.obolibrary.org/obo/MONDO_0004231 metaplastic adenocarcinoma with spindle cell differentiation|squamous cell breast carcinoma, spindle cell variant MONDO:0006896 peptic esophagitis biolink:Disease mondo DOID:13976|UMLS:C0014869|EFO:1001095|MESH:D004942|SCTID:57643001|ICD9:530.11 Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum. UMLS:C0014869|SNOMEDCT:57643001|DOID:13976|MESH:D004942 http://purl.obolibrary.org/obo/MONDO_0006896 reflux esophagitis|reflux oesophagitis|peptic esophagitis|peptic reflux disease MONDO:0004234 chronic lymphoproliferative disorder of NK-cells biolink:Disease mondo SCTID:722955006|Orphanet:512017|ICDO:9831/3|DOID:7465|NCIT:C39591|UMLS:C1512709 An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged. SNOMEDCT:722955006|ORPHA:512017|UMLS:C1512709|NCIT:C39591|DOID:7465 http://purl.obolibrary.org/obo/MONDO_0004234 chronic NK-LGL lymphoproliferative disorder|CLPD-NK|NK-type lymphoproliferative disorder of granular lymphocytes|NK-LGL leukemia|NK-LGLL|indolent NK-cell lymphoproliferative disorder|NK-cell large granular lymphocyte lymphocytosis|natural killer-cell large granular lymphocyte leukemia|chronic NK-cell lymphocytosis|chronic NK-large granular lymphocyte lymphoproliferative disorder|chronic NK lymphocytosis|chronic lymphoproliferative disorder of natural killer cells|NK-cell lineage granular lymphocyte proliferative disorder|CNKL|indolent large granular NK-cell lymphoproliferative disorder|chronic lymphoproliferative disorder of NK-cells ordo_disease MONDO:0006893 Pasteurella hemorrhagic septicemia biolink:Disease mondo SCTID:198462004|EFO:1001091|MESH:D006483 Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans. MESH:D006483|SNOMEDCT:198462004 http://purl.obolibrary.org/obo/MONDO_0006893 septicemia, hemorrhagic|hemorrhagic bacteremia|Septicaemia, hemorrhagic|haemorrhagic bacteremia|Septicaemia, haemorrhagic|septicemia, haemorrhagic|haemorrhagic Septicaemia|bacteremia, haemorrhagic|hemorrhagic Septicaemia|bacteremia, hemorrhagic|haemorrhagic septicemia MONDO:0004233 childhood pleomorphic rhabdomyosarcoma biolink:Disease mondo UMLS:C0279614|DOID:7463|NCIT:C7959 A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. UMLS:C0279614|NCIT:C7959|DOID:7463 http://purl.obolibrary.org/obo/MONDO_0004233 pediatric pleomorphic rhabdomyosarcoma|pleomorphic childhood rhabdomyosarcoma|Pleomorphic rhabdomyosarcoma|childhood anaplastic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma of childhood|pediatric pleomorphic rhabdomyosarcoma MONDO:0006894 patellofemoral pain syndrome biolink:Disease mondo MedDRA:10049143|MESH:D046788|DOID:14284|EFO:1001092|UMLS:C0877149|SCTID:430725003 A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome. DOID:14284|UMLS:C0877149|SNOMEDCT:430725003|MESH:D046788 http://purl.obolibrary.org/obo/MONDO_0006894 MONDO:0006891 partial motor epilepsy biolink:Disease mondo SCTID:128612007|EFO:1001089|ICD9:780.39|DOID:3327|MESH:D020938 A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles. DOID:3327|NCIT:C50847|SNOMEDCT:128612007|MESH:D020938 http://purl.obolibrary.org/obo/MONDO_0006891 epilepsy, focal motor|epilepsy, focal motor NOS|focal motor seizure|focal motor seizure, NOS MONDO:0006892 partial sensory epilepsy biolink:Disease mondo MESH:D020937|DOID:3330|EFO:1001090 A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial). DOID:3330|MESH:D020937 http://purl.obolibrary.org/obo/MONDO_0006892 MONDO:0004230 adenomatoid tumor biolink:Disease mondo ICD10:D19.9|ICDO:9052/0|ICDO:9050/0|MESH:D018254|DOID:746|NCIT:C3762|UMLS:C0206675|ICDO:9054/0 A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis. DOID:746|UMLS:C0206675|MESH:D018254|NCIT:C3762 http://purl.obolibrary.org/obo/MONDO_0004230 benign mesothelial neoplasm|adenomatoid tumor NOS (morphologic abnormality)|adenomatoid tumor, benign|adenomatoid tumor (morphologic abnormality)|benign mesothelial tumor|benign neoplasm of the mesothelium|benign neoplasm of mesothelium|benign tumor of the mesothelium|benign tumor of mesothelium|benign mesothelioma|benign localized epithelial mesothelioma|mesothelioma, benign|adenomatoid tumor MONDO:0006890 parathyroid gland adenoma biolink:Disease mondo UMLS:C0262587|EFO:1001087|HP:0002897|SCTID:128474007|NCIT:C3916|DOID:7608|MedDRA:10033940 A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent. UMLS:C0262587|SNOMEDCT:128474007|DOID:7608|NCIT:C3916 http://purl.obolibrary.org/obo/MONDO_0006890 adenoma of parathyroid|adenoma of parathyroid gland|adenoma of the parathyroid|parathyroid gland adenoma|parathyroid adenoma|adenoma of the parathyroid gland MONDO:0016229 genetic vascular anomaly biolink:Disease mondo Orphanet:211240 An instance of vascular anomaly that is caused by a modification of the individual's genome. ORPHA:211240 http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly ordo_group_of_disorders MONDO:0043836 tuberculosis, spinal biolink:Disease mondo MESH:D014399|NCIT:C35087|SCTID:35984006 Tuberculosis of the vertebrae. SNOMEDCT:35984006|NCIT:C35087|MESH:D014399 http://purl.obolibrary.org/obo/MONDO_0043836 tuberculosis of spine (pott's)|disease, pott's|pott's paraplegia|tuberculosis of vertebral column - pott's|tuberculous spondylitis|tuberculosis of vertebral column|pott disease|spinal Tuberculoses|Potts disease|Tuberculoses, spinal|pott's disease|disease, pott|spinal tuberculosis MONDO:0043839 ulcer disease biolink:Disease mondo NCIT:C3426|UMLS:C0041582|SCTID:429040005|MESH:D014456 A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. UMLS:C0041582|SNOMEDCT:429040005|NCIT:C3426|MESH:D014456 http://purl.obolibrary.org/obo/MONDO_0043839 ulcer|ulceration|ulcerative|ulcerated|ulcers MONDO:0018888 congenital cornea plana biolink:Disease mondo ICD10:Q13.4|Orphanet:53691 ORPHA:53691 http://purl.obolibrary.org/obo/MONDO_0018888 ordo_morphological_anomaly MONDO:0016225 specific learning disability biolink:Disease mondo UMLS:CN226885|Orphanet:211047|MESH:D000067559 Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V) UMLS:CN226885|ORPHA:211047|MESH:D000067559 http://purl.obolibrary.org/obo/MONDO_0016225 specific learning disorder|specific learning difficulty ordo_group_of_disorders MONDO:0018887 obsolete rare cutaneous lupus erythematosus biolink:Disease mondo Orphanet:535 Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE). ORPHA:535 http://purl.obolibrary.org/obo/MONDO_0018887 rare cutaneous lupus erythematosus ordo_group_of_disorders|obsoletion_candidate MONDO:0016226 specific language disorder biolink:Disease mondo UMLS:CN200992|Orphanet:211053 ORPHA:211053|UMLS:CN200992 http://purl.obolibrary.org/obo/MONDO_0016226 dysphasia ordo_group_of_disorders MONDO:0016227 hereditary episodic ataxia biolink:Disease mondo GARD:0009851|OMIMPS:160120|Orphanet:211062|UMLS:C1720189|ICD10:G11.8|DOID:963|EFO:1000638|SCTID:421455009 Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2. SNOMEDCT:421455009|ORPHA:211062|DOID:963|UMLS:C1720189 http://purl.obolibrary.org/obo/MONDO_0016227 ea syndrome|episodic ataxia syndrome|Isaacs syndrome|episodic ataxia ordo_group_of_disorders HP:0005523 Lymphoproliferative disorder biolink:PhenotypicFeature mondo UMLS:C0024314|SNOMEDCT_US:414629003|MSH:D008232|SNOMEDCT_US:84631004|SNOMEDCT_US:277466009|SNOMEDCT_US:77121009 http://purl.obolibrary.org/obo/HP_0005523 Lymphoproliferative disorders UBERON:3000961 external integument structure biolink:AnatomicalEntity mondo Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. http://purl.obolibrary.org/obo/UBERON_3000961 MONDO:0016228 obsolete rare vascular tumor biolink:Disease mondo Orphanet:211237 Any of the forms of vascular neoplasm that have a rare incidence. ORPHA:211237 http://purl.obolibrary.org/obo/MONDO_0016228 rare vascular neoplasm obsoletion_candidate|ordo_group_of_disorders MONDO:0018889 hyaline body myopathy biolink:Disease mondo GARD:0007148|Orphanet:53698|ICD10:G71.2 ORPHA:53698 http://purl.obolibrary.org/obo/MONDO_0018889 myosin storage myopathy ordo_disease MONDO:0018884 Roch-Leri mesosomatous lipomatosis biolink:Disease mondo SCTID:716772007|GARD:0004733|ICD10:E88.2|UMLS:C4274284|Orphanet:529 Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984. SNOMEDCT:716772007|ORPHA:529|UMLS:C4274284 http://purl.obolibrary.org/obo/MONDO_0018884 Roch-Leri syndrome gard_rare|ordo_disease MONDO:0016221 temporomandibular joint anomaly biolink:Disease mondo Orphanet:210581 ORPHA:210581 http://purl.obolibrary.org/obo/MONDO_0016221 ordo_group_of_disorders MONDO:0018883 Berardinelli-Seip congenital lipodystrophy biolink:Disease mondo Orphanet:528|ICD9:250.80|SCTID:127012008|ICD10:E88.1|MedDRA:10024603|NCIT:C84594 Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance. ORPHA:528|UMLS:C0011859|SNOMEDCT:127012008|NCIT:C84594|MEDDRA:10024603 http://purl.obolibrary.org/obo/MONDO_0018883 GCL|Beradinelli-Seip syndrome|lipoatrophic diabetes|Seip-Bernardinelli syndrome|Lawrence-Seip syndrome|total lipodystrophy|Berardinelli Seip syndrome|BSCL|Berardinelli lipodystrophy syndrome|generalized congenital lipodystrophy|Brunzell syndrome|congenital Generalized lipodystrophy ordo_disease MONDO:0016222 spindle cell hemangioma biolink:Disease mondo NCIT:C4754|Orphanet:210584|ICDO:9136/1|SCTID:403967000|ICDO:9136/0|UMLS:C1304508|DOID:496|ICD10:D18.0|EFO:0002856 Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis. DOID:496|ORPHA:210584|NCIT:C4754|SNOMEDCT:403967000|UMLS:C1304508 http://purl.obolibrary.org/obo/MONDO_0016222 spindle -cell hemangioma|SCh|spindle cell hemangioendothelioma|spindle cell hemangioma ordo_disease MONDO:0018886 obsolete listeriosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018886 MONDO:0016223 infantile hemangioma of rare localization biolink:Disease mondo Orphanet:210589|SCTID:703270004|UMLS:C3839613|UMLS:CN226884 SNOMEDCT:703270004|UMLS:CN226884|UMLS:C3839613|ORPHA:210589 http://purl.obolibrary.org/obo/MONDO_0016223 ordo_group_of_disorders MONDO:0018885 orbital leiomyoma biolink:Disease mondo ICD10:D31.6|UMLS:CN205236|Orphanet:52994|UMLS:C4305000|SCTID:719045009 Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported. SNOMEDCT:719045009|UMLS:CN205236|ORPHA:52994|UMLS:C4305000 http://purl.obolibrary.org/obo/MONDO_0018885 ordo_disease MONDO:0016224 autosomal dominant proximal spinal muscular atrophy biolink:Disease mondo Orphanet:211037|ICD10:G12.1|UMLS:CN229044 Autosomal dominant form of proximal spinal muscular atrophy. ORPHA:211037|UMLS:CN229044 http://purl.obolibrary.org/obo/MONDO_0016224 proximal spinal muscular atrophy, autosomal dominant ordo_group_of_disorders MONDO:0018880 rare teratologic disease biolink:Disease mondo Orphanet:52662|UMLS:CN205231 UMLS:CN205231|ORPHA:52662 http://purl.obolibrary.org/obo/MONDO_0018880 acquired embryofetopathy obsoletion_candidate|ordo_group_of_disorders MONDO:0018882 vasculitis biolink:Disease mondo MESH:D014657|MedDRA:10036023|SCTID:31996006|UMLS:C0042384|GARD:0009565|DOID:865|NCIT:C26912|Orphanet:52759|MedDRA:10047115|Wikipedia:Vasculitis|EFO:0006803 Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. UMLS:C0042384|MEDDRA:10047115|DOID:865|UMLS:C0264939|SNOMEDCT:31996006|NCIT:C26912|ORPHA:52759|MEDDRA:10036023|MESH:D056647|MESH:D014657 http://purl.obolibrary.org/obo/MONDO_0018882 angiitis|systemic vasculitis ordo_group_of_disorders HGNC:14153 CCDC78 biolink:OntologyClass mondo http://identifiers.org/hgnc/14153 MONDO:0018881 myelodysplastic syndrome biolink:Disease mondo ICDO:9989/3|ICD9:238.75|DOID:0050908|UMLS:C3463824|MedDRA:10028532|EFO:0000198|SCTID:109995007|Orphanet:52688|OMIM:614286|COHD:138994|NCIT:C3247|UMLS:C0033027|ONCOTREE:MDS|GARD:0007132|ICD9:238.7 A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) UMLS:C0026985|DOID:0050908|MEDDRA:10028532|UMLS:C3463824|UMLS:C0033027|SNOMEDCT:109995007|ORPHA:52688|NCIT:C3247|http://identifiers.org/omim/614286|MESH:D009190 http://purl.obolibrary.org/obo/MONDO_0018881 MDS|myelodysplastic syndrome, NOS|myelodysplastic neoplasm|myelodysplasia|myelodysplastic syndrome|smoldering leukemia|MDS|myelodysplastic syndrome/neoplasm|preleukemia|oligoblastic leukemia|myelodysplastic syndrome, susceptibility to|myelodysplastic syndromes|hematopoeitic - myelodysplastic syndrome (MDS)|dysmyelopoietic syndrome|myelodysplastic syndrome; MDS ordo_group_of_disorders MONDO:0016220 congenital temporomandibular joint ankylosis biolink:Disease mondo Orphanet:210576|ICD10:K07.6|SCTID:763215008 Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported. SNOMEDCT:763215008|ORPHA:210576 http://purl.obolibrary.org/obo/MONDO_0016220 congenital trismus ordo_disease HGNC:14154 LMF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14154 MONDO:0004247 peptic ulcer disease biolink:Disease mondo UMLS:C0030920|ICD10:K27|ICD9:533|NCIT:C3318|DOID:750|MESH:D010437|SCTID:13200003 A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding. DOID:750|UMLS:C0030920|MESH:D010437|SNOMEDCT:13200003|NCIT:C3318 http://purl.obolibrary.org/obo/MONDO_0004247 acute peptic ulcer without hemorrhage and without perforation|peptic ulcer|acute peptic ulcer with hemorrhage and perforation|acute peptic ulcer with hemorrhage MONDO:0004246 obsolete lymphatic system disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004246 MONDO:0004249 pediatric supratentorial ependymoma biolink:Disease mondo UMLS:C0278650|DOID:7502|NCIT:C9043|EFO:0008495 An ependymoma that arises from the supratentorial region of the brain and occurs during childhood. DOID:7502|NCIT:C9043|UMLS:C0278650 http://purl.obolibrary.org/obo/MONDO_0004249 supratentorial ependymoma|pediatric supratentorial ependymoblastoma|childhood supratentorial ependymoma|pediatric cerebral ependymoma MONDO:0004248 pediatric infratentorial ependymoma biolink:Disease mondo DOID:7501|UMLS:C0278599|NCIT:C9041 An ependymoma that arises from the infratentorial region of the brain and occurs during childhood. NCIT:C9041|UMLS:C0278599|DOID:7501 http://purl.obolibrary.org/obo/MONDO_0004248 childhood infratentorial ependymoma|infratentorial ependymoma|pediatric infratentorial ependymoma MONDO:0004243 vulvar proximal-type epithelioid sarcoma biolink:Disease mondo UMLS:C1520093|NCIT:C40319|DOID:7491 An epithelioid sarcoma of the proximal type involving the vulva. UMLS:C1520093|NCIT:C40319|DOID:7491 http://purl.obolibrary.org/obo/MONDO_0004243 HGNC:26144 PALB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26144 UBERON:3000981 limb external integument structure biolink:AnatomicalEntity mondo Dermal, epidermal, glandular and pigment structures of the limb integument. http://purl.obolibrary.org/obo/UBERON_3000981 MONDO:0004242 active peptic ulcer disease biolink:Disease mondo DOID:749|ICD9:578.9|SCTID:74474003 DOID:749|SNOMEDCT:74474003 http://purl.obolibrary.org/obo/MONDO_0004242 GI bleeding MONDO:0004245 ependymal tumor of brain biolink:Disease mondo SCTID:254939008|UMLS:C0238029|NCIT:C3861|DOID:7497 A tumor arising from the ependymal lining of the ventricles. UMLS:C0238029|DOID:7497|SNOMEDCT:254939008|NCIT:C3861 http://purl.obolibrary.org/obo/MONDO_0004245 ependymoma of brain|ependymal tumor of brain|brain ependymal tumor|brain ependymoma MONDO:0004244 proximal-type epithelioid sarcoma biolink:Disease mondo ONCOTREE:PTES|UMLS:C1335563|NCIT:C27472|DOID:7492 An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma. NCIT:C27472|UMLS:C1335563|DOID:7492 http://purl.obolibrary.org/obo/MONDO_0004244 proximal-type epithelioid sarcoma|PTES|central epithelioid sarcoma HGNC:26147 AGBL5 biolink:OntologyClass mondo http://identifiers.org/hgnc/26147 MONDO:0004241 Osgood-Schlatter disease biolink:Disease mondo MedDRA:10031130|Orphanet:97335|DOID:7489|ICD9:736.89|SCTID:430506003|SCTID:72047008|NCIT:C34874|ICD10:M93.2 Osteochondrosis of the growth plate near the tibial tuberosity. SNOMEDCT:430506003|NCIT:C34874|ORPHA:97335|MEDDRA:10031130|SNOMEDCT:72047008|DOID:7489 http://purl.obolibrary.org/obo/MONDO_0004241 osteochondritis of tibial tubercle|osteochondritis of the tibial tubercle|aseptic necrosis of the tibial tubercle|Osteochondrosis of proximal tibia|Osgood-Schlatter disease|Osgood-Schlatter's disease|juvenile osteochondrosis of tibial tubercle|Osteochondrosis of the tibial tubercle ordo_disease MONDO:0004240 posterior urethra cancer biolink:Disease mondo NCIT:C7640|DOID:7488|UMLS:C0279931 A malignant neoplasm that affects the portion of the urethra that is close to the bladder. UMLS:C0279931|NCIT:C7640|DOID:7488 http://purl.obolibrary.org/obo/MONDO_0004240 malignant tumor of posterior urethra|posterior urethral cancer|posterior urethra malignant neoplasm|malignant neoplasm of the posterior urethra|posterior urethral malignant tumor|malignant neoplasm of posterior urethra|posterior urethra malignant tumor|posterior urethral malignant neoplasm|malignant tumor of the posterior urethra MONDO:0016218 Guillain-Barre syndrome biolink:Disease mondo SCTID:40956001|UMLS:C0018378|MedDRA:10018767|DOID:12842|EFO:0007292|NCIT:C116345|ICD10:G61.0|MESH:D020275|GARD:0006554|Orphanet:2103 Guillain-BarrC) syndrome (GBS) is the term used to describe a spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. MESH:D020275|ORPHA:2103|NCIT:C116345|MEDDRA:10018767|UMLS:C0018378|DOID:12842|SNOMEDCT:40956001 http://purl.obolibrary.org/obo/MONDO_0016218 acute autoimmune peripheral neuropathy|Guillain-Barré-Strohl syndrome|Guillain Barré syndrome|GBS|Guillain-BarrC)-Strohl syndrome|acute immune-mediated polyneuropathy|acute inflammatory demyelinating polyneuropathy|Landry's ascending paralysis|acute postinfectious polyneuropathy|Guillain-Barré syndrome|infectious neuronitis|post-infectious polyneuritis|acute infective polyneuritis|Landry-Guillain-Barre-Strohl syndrome|acute inflammatory neuropathy|Postinfectious polyneuritis|post-infective polyneuritis|Guillain Barre syndrome ordo_group_of_disorders UBERON:3000977 body external integument structure biolink:AnatomicalEntity mondo Dermal, epidermal, glandular and pigment structures of the body integument. http://purl.obolibrary.org/obo/UBERON_3000977 MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome biolink:Disease mondo Orphanet:2104|GARD:0000352|UMLS:CN237430|ICD10:Q87.8 Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. ORPHA:2104|UMLS:CN237430 http://purl.obolibrary.org/obo/MONDO_0016219 Guízar Vázquez-Sánchez-Manzano syndrome|dysmorphism-pectus carinatum-joint laxity syndrome|Guizar Vasquez Sanchez Manzano syndrome gard_rare|ordo_malformation_syndrome MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome biolink:Disease mondo UMLS:CN200975|Orphanet:210136 Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. UMLS:CN200975|ORPHA:210136 http://purl.obolibrary.org/obo/MONDO_0016214 ordo_disease MONDO:0018877 retinitis punctata albescens biolink:Disease mondo Orphanet:52427|ICD10:H35.5|UMLS:CN205224|SCTID:715562001 SNOMEDCT:715562001|UMLS:CN205224|ORPHA:52427 http://purl.obolibrary.org/obo/MONDO_0018877 ordo_disease MONDO:0018876 mantle cell lymphoma biolink:Disease mondo EFO:1001469|COHD:40481901|SCTID:443487006|DOID:0050746|Orphanet:52416|MESH:D020522|ICD9:200.40|ONCOTREE:MCL|ICD10:C83.1|NCIT:C4337|ICDO:9673/3|GARD:0006969|MedDRA:10061275 Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''. DOID:0050746|MEDDRA:10061275|SNOMEDCT:443487006|ORPHA:52416|NCIT:C4337|MESH:D020522 http://purl.obolibrary.org/obo/MONDO_0018876 lymphoma, mantle cell|classical mantle cell lymphoma|mantle cell lymphoma|mantle zone lymphoma|MCL|LCM ordo_disease MONDO:0016215 spastic quadriplegia biolink:Disease mondo ICD10:G11.4|UMLS:C0154697|SCTID:192965001|OMIMPS:603513|ICD9:343.2|NCIT:C116904|DOID:10970|ICD9:344.09|Orphanet:210141 A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. DOID:10970|NCIT:C116904|ORPHA:210141|UMLS:C0154697|SNOMEDCT:192965001 http://purl.obolibrary.org/obo/MONDO_0016215 tetraplegic infantile cerebral palsy|spastic quadriplegic cerebral palsy|quadriplegic infantile cerebral palsy|inherited congenital spastic tetraplegia|inherited congenital spastic quadriplegia ordo_disease MONDO:0016216 adult hepatocellular carcinoma biolink:Disease mondo NCIT:C7956|ICD10:C22.0|Orphanet:210159|UMLS:C0279607|UMLS:CN200978 Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure. UMLS:C0279607|UMLS:CN200978|ORPHA:210159|NCIT:C7956 http://purl.obolibrary.org/obo/MONDO_0016216 adult primary hepatoma|adult primary carcinoma of liver cell|adult primary carcinoma of the liver cell|adult primary liver cell carcinoma|hepatocellular cancer|hepatocellular carcinoma of adults|adult hepatocellular carcinoma|adult HCC|adult primary hepatocellular carcinoma|adult hepatoma ordo_clinical_subtype MONDO:0018879 lichen planopilaris biolink:Disease mondo SCTID:64540004|GARD:0003247|Orphanet:525|MESH:C535892|UMLS:C0023645|ICD10:L66.1|COHD:4276173 Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus. ORPHA:525|SNOMEDCT:64540004|MESH:C535892|UMLS:C0023645 http://purl.obolibrary.org/obo/MONDO_0018879 lichen planus follicularis|follicular lichen planus|Kossard disease|lichen planopilaris classic type|frontal fibrosing alopecia (subtype)|Lpp|lichen follicularis ordo_disease UBERON:3000972 head external integument structure biolink:AnatomicalEntity mondo Dermal, epidermal, glandular and pigment structures of the external head integument. http://purl.obolibrary.org/obo/UBERON_3000972 MONDO:0016217 mal de Debarquement biolink:Disease mondo GARD:0006959|MedDRA:10064924|UMLS:C1608983|ICD10:H81.8|SCTID:446079007|Orphanet:210272 Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train. UMLS:C1608983|MESH:C537840|MEDDRA:10064924|ORPHA:210272|SNOMEDCT:446079007 http://purl.obolibrary.org/obo/MONDO_0016217 Mal de débarquement|MDD|Mal de debarquement syndrome|sickness of disembarkment|MdDS|disembarkment syndrome ordo_clinical_syndrome MONDO:0018878 branchiootic syndrome biolink:Disease mondo ICD10:Q87.0|UMLS:CN205225|DOID:0060232|SCTID:764810000|Orphanet:52429|GARD:0010148 Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). SNOMEDCT:764810000|DOID:0060232|UMLS:CN205225|ORPHA:52429 http://purl.obolibrary.org/obo/MONDO_0018878 bor|bo syndrome|branchiootic dysplasia ordo_malformation_syndrome MONDO:0018873 anterior cutaneous nerve entrapment syndrome biolink:Disease mondo UMLS:CN776944|Orphanet:51890|ICD10:G58.0 Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome. UMLS:CN776944|ORPHA:51890 http://purl.obolibrary.org/obo/MONDO_0018873 ACNES|rectus abdominis syndrome|intercostal nerve syndrome ordo_disease MONDO:0016210 alternating hemiplegia biolink:Disease mondo Orphanet:209978|SCTID:404689008 SNOMEDCT:404689008|ORPHA:209978 http://purl.obolibrary.org/obo/MONDO_0016210 ordo_group_of_disorders MONDO:0018872 acute megakaryoblastic leukemia biolink:Disease mondo GARD:0000524|ICD10:C94.20|Orphanet:518|EFO:0003025|MedDRA:C0023462|Wikipedia:Acute_megakaryoblastic_leukemia|ICDO:9910/3|UMLS:C0023462|ICD10:C94.2|SCTID:277602003|ONCOTREE:AMKL|DOID:8761|ICD9:207.2|NCIT:C3170|MESH:D007947 Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis. ORPHA:518|MESH:D007947|UMLS:C0023462|SNOMEDCT:277602003|NCIT:C3170|DOID:8761 http://purl.obolibrary.org/obo/MONDO_0018872 AML M7|leukemia, megakaryocytic, malignant|acute myeloid leukemia M7|AMKL|acute megakaryocytic leukemia|acute megakaryoblastic leukemia, FAB M7|megakaryocytic myelosis|acute megakaryoblastic leukemia|acute megakaryoblastic leukaemia, FAB M7|acute megakaryocytic leukemias|acute myeloblastic leukemia type 7|acute megakaryoblastic leukaemia|megakaryocytic leukemia|FAB M7|thrombocytic leukaemia|acute megakaryoblastic leukemia (FAB type M7)|acute M7 myeloid leukemia ordo_disease|gard_rare MONDO:0016211 non-papillary transitional cell carcinoma of the bladder biolink:Disease mondo ICD10:C67.4|ICD10:C67.3|ICD10:C67.2|ICD10:C67.1|ICD10:C67.0|Orphanet:209989|ICD10:C67.9|UMLS:CN200968|ICD10:C67.8|ICD10:C67.7|ICD10:C67.6|ICD10:C67.5 UMLS:CN200968|ORPHA:209989 http://purl.obolibrary.org/obo/MONDO_0016211 non-papillary urothelial carcinoma ordo_disease MONDO:0018875 Li-Fraumeni syndrome biolink:Disease mondo MESH:D016864|MedDRA:10066795|ICD9:V84.01|Orphanet:524|DOID:3012|OMIMPS:151623|UMLS:C0085390|NCIT:C3476|SCTID:428850001|ICD10:D48.9|GARD:0006902 Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). MEDDRA:10066795|UMLS:C0085390|ORPHA:524|DOID:3012|MESH:D016864|SNOMEDCT:428850001|NCIT:C3476 http://purl.obolibrary.org/obo/MONDO_0018875 Li-Fraumeni familial cancer susceptibility syndrome|Li Fraumeni syndrome|SBLA syndrome|sarcoma, breast, leukaemia and adrenal gland syndrome|sarcoma family syndrome of Li and Fraumeni|SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)|Li-Fraumeni familiar cancer susceptibility syndrome|Li-Fraumeni syndrome ordo_disease MONDO:0016212 cyclosporosis biolink:Disease mondo SCTID:716860005|UMLS:C4274225|ICD10:A07.3|Orphanet:210 Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. ORPHA:210|SNOMEDCT:716860005|UMLS:C4274225 http://purl.obolibrary.org/obo/MONDO_0016212 Cyclospora cayetanensis disease or disorder|infection of intestine caused by Cyclospora cayetanensis|cyclosporosis|intestinal infection caused by Cyclospora cayetanensis|Cyclospora cayetanensis infectious disease|Cyclospora cayetanensis caused disease or disorder ordo_disease MONDO:0018874 acute myeloid leukemia biolink:Disease mondo ICDO:9861/3|Orphanet:519|GARD:0012757|DOID:9119|NCIT:C3171|ICD9:205.00|ICD10:C92.00|MedDRA:10000880|MESH:D015470|EFO:0000222|ICD9:205.0|ICD10:C92.0|OMIM:601626|UMLS:C0023467|KEGG:05221|ONCOTREE:AML|SCTID:91861009|GARD:0000537 Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections. http://identifiers.org/omim/601626|MEDDRA:10000880|ORPHA:519|UMLS:C1879321|UMLS:C0023467|SNOMEDCT:91861009|DOID:9119|NCIT:C3171|MESH:D015470 http://purl.obolibrary.org/obo/MONDO_0018874 leukemia, acute myeloid|acute myelogenous leukemias|acute Nonlymphocytic leukemia|acute nonlymphocytic leukemia|myeloid leukemia, acute|acute myelogenous leukemia|AML|acute granulocytic leukemia|leukemia, acute myelogenous|acute myeloblastic leukemia|hematopoeitic - acute Myleogenous leukemia (AML)|leukemia, myelocytic, acute|acute myelocytic leukemia|ANLL|leukemia, acute myeloid, susceptibility to|acute myeloid leukemia (AML)|acute myeloid leukemia|leukemia, acute myeloid; AML|AML - acute myeloid leukemia|acute non lymphoblastic leukemia ordo_group_of_disorders|gard_rare MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome biolink:Disease mondo Orphanet:210133|UMLS:CN226881|ICD10:Q82.8 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy. UMLS:CN226881|ORPHA:210133 http://purl.obolibrary.org/obo/MONDO_0016213 ordo_disease MONDO:0018871 acute myelomonocytic leukemia M4 biolink:Disease mondo EFO:0000223|ICD10:C92.5|Orphanet:517|MedDRA:10000890|SCTID:110005000|GARD:0000529|ICDO:9867/3|ONCOTREE:AMML|UMLS:C0023479|NCIT:C7463 An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) ORPHA:517|NCIT:C7463|UMLS:C0023479|MESH:D015479|MEDDRA:10000890|SNOMEDCT:110005000 http://purl.obolibrary.org/obo/MONDO_0018871 AML-M4|acute myeloblastic leukemia type 4|AMMoL|acute myelomonocytic leukemia|AML M4|AMML|acute myelomonocytic leukemia (FAB type M4)|acute M4 myeloid leukemia ordo_disease|gard_rare MONDO:0018870 arterial calcification of infancy biolink:Disease mondo DOID:0050644|ICD10:Q28.8|Orphanet:51608|MESH:C537440|OMIMPS:208000|GARD:0008380 Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries. MESH:C537440|DOID:0050644|UMLS:C0264955|ORPHA:51608|UMLS:C1859727 http://purl.obolibrary.org/obo/MONDO_0018870 generalized arterial calcification of infancy|idiopathic obliterative arteriopathy|IIAC|generalized arterial calcification in infancy|infantile arteriosclerosis|occlusive infantile arteriopathy|idiopathic infantile arterial calcification ordo_disease MONDO:0004218 childhood germ cell brain tumor biolink:Disease mondo DOID:7430|UMLS:C1377598|NCIT:C5795 A germ cell tumor arising from brain during childhood. NCIT:C5795|UMLS:C1377598|DOID:7430 http://purl.obolibrary.org/obo/MONDO_0004218 Brain germ cell tumor|germ cell neoplasm of pediatric brain|germ cell tumor of the childhood brain|germ cell tumor of childhood brain|pediatric brain germ cell tumor|pediatric brain germ cell neoplasm|germ cell neoplasm of the childhood brain|germ cell neoplasm of childhood brain|childhood brain germ cell tumor|germ cell neoplasm of the pediatric brain|germ cell tumor of the pediatric brain|germ cell tumor of pediatric brain|childhood germ cell brain neoplasm|childhood brain germ cell neoplasm MONDO:0004217 childhood brain germinoma biolink:Disease mondo DOID:7429|UMLS:C1332948|NCIT:C6207 A germinoma arising from the brain during childhood. DOID:7429|UMLS:C1332948|NCIT:C6207 http://purl.obolibrary.org/obo/MONDO_0004217 pediatric brain germinoma|pediatric brain germ cell cancer|pediatric brain germinoma|germinoma of the childhood brain|germinoma of childhood brain|brain germinoma of childhood|germinoma of the pediatric brain|germinoma of pediatric brain MONDO:0006879 optic papillitis biolink:Disease mondo ICD10:H47.10|ICD10:H46.0|DOID:10175|ICD9:362.83|ICD10:H35.81|ICD10:H47.1|ICD9:377.31|MedDRA:10030948|ICD9:377.00|ICD9:377.0|MESH:D010211|SCTID:73221001|ICD9:377.01|COHD:435269|EFO:1001074|ICD10:H47.11 Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) DOID:10175|NCIT:C3307|MESH:D010211|SNOMEDCT:73221001 http://purl.obolibrary.org/obo/MONDO_0006879 disk, Choked|decreased intraocular pressure associated papilledema|papillitis|optic papilla edema|decreased intraocular pressure-associated papilledema|optic disc inflammation|edema, optic disk|Edemas, optic disk|Choked disk|papilledema associated with increased intracranial pressure|retinal edema|optic disk edema|disks, Choked|edema of the optic disc|papillitis, optic|increased intracranial pressure associated papilledema|inflammation of optic disc|retinal Edemas|optic nerve papillitis|increased intracranial pressure-associated papilledema|Choked disks|edema, optic papilla|papilledema associated with decreased intraocular pressure|optic discitis|papillitis, optic nerve|Edemas, retinal|edema, retinal|optic papillitis MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor biolink:Disease mondo UMLS:C1515311|DOID:7435|NCIT:C39930 A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue. NCIT:C39930|DOID:7435|UMLS:C1515311 http://purl.obolibrary.org/obo/MONDO_0004219 testicular yolk Sac tumor, polyvesicular vitelline pattern MONDO:0006877 oophoritis biolink:Disease mondo SCTID:76047005|EFO:1001071|MESH:D009869|ICD10:N70.92|MedDRA:10030345|DOID:10974|UMLS:C0029051 Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix. DOID:10974|SNOMEDCT:76047005|MESH:D009869|UMLS:C0029051 http://purl.obolibrary.org/obo/MONDO_0006877 ovary inflammation|inflammation of ovary MONDO:0004214 ovarian endometrioid cystadenofibroma biolink:Disease mondo NCIT:C27288|UMLS:C1335158|DOID:7411 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma. DOID:7411|NCIT:C27288|UMLS:C1335158 http://purl.obolibrary.org/obo/MONDO_0004214 ovarian endometrioid cystadenofibroma UBERON:0037089 wall of orbit biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0037089 orbit wall MONDO:0006878 Moraxellaceae infectious disease biolink:Disease mondo MESH:D045828|EFO:1001072 Infections with bacteria of the family moraxellaceae. MESH:D045828 http://purl.obolibrary.org/obo/MONDO_0006878 Psychobacter infections|infections, Moraxella|Moraxella infections|infection, Moraxella|Moraxellaceae infection|Moraxellaceae disease or disorder|infection, Psychobacter|Moraxella infection|infections, Psychobacter|infections, Moraxellaceae|Psychobacter infection|infection, Moraxellaceae|Moraxellaceae caused disease or disorder MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma biolink:Disease mondo DOID:7409|NCIT:C40285|UMLS:C1520092 A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls. UMLS:C1520092|DOID:7409|NCIT:C40285 http://purl.obolibrary.org/obo/MONDO_0004213 MONDO:0006875 ocular hypertension biolink:Disease mondo UMLS:C0028840|MESH:D009798|EFO:1001069|MedDRA:10030043|ICD9:365.04|SCTID:4210003|ICD10:H40.05|COHD:381290|DOID:9282 Abnormally high intraocular pressure. NCIT:C3285|UMLS:C0028840|MESH:D009798|SNOMEDCT:4210003|DOID:9282 http://purl.obolibrary.org/obo/MONDO_0006875 MONDO:0004216 pineal region germinoma biolink:Disease mondo NCIT:C8712|GARD:0002005|MEDGEN:208928|DOID:7428|Orphanet:91352|UMLS:C0854912 A germinoma that arises from the pineal gland. DOID:7428|ORPHA:91352|NCIT:C8712|UMLS:C0854912 http://purl.obolibrary.org/obo/MONDO_0004216 pineal germinoma|germinoma MONDO:0006876 ocular tuberculosis biolink:Disease mondo EFO:1001070|MESH:D014392|SCTID:49107007|ICD9:017.30|ICD9:017.32|UMLS:C0041322 Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid. MESH:D014392|UMLS:C0041322|SNOMEDCT:49107007 http://purl.obolibrary.org/obo/MONDO_0006876 MONDO:0004215 cutaneous anthrax biolink:Disease mondo ICD9:022.0|GARD:0008158|MESH:C531621|UMLS:C0003177|ICD10:A22.0|DOID:7426|SCTID:84980006 An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center. UMLS:C0003177|DOID:7426|MESH:C531621|SNOMEDCT:84980006 http://purl.obolibrary.org/obo/MONDO_0004215 skin anthrax|anthrax, skin type gard_rare MONDO:0043862 voice disorders biolink:Disease mondo MESH:D014832|SCTID:71941009|NCIT:C3441 A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. SNOMEDCT:71941009|NCIT:C3441|MESH:D014832 http://purl.obolibrary.org/obo/MONDO_0043862 voice disorder|neurologic dysphonia|neurologic voice disorder MONDO:0004210 colonic L-cell glucagon-like peptide producing tumor biolink:Disease mondo NCIT:C27447|DOID:7401|UMLS:C3274139 A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. DOID:7401|NCIT:C27447|UMLS:C3274139 http://purl.obolibrary.org/obo/MONDO_0004210 L-cell glucagon-like peptide-producing neuroendocrine tumor of colon|colonic L-cell glucagon-like peptide-producing neuroendocrine tumor|colon L-cell glucagon-like peptide-producing neuroendocrine tumor|colon L-cell glucagon-like peptide-producing NET MONDO:0006873 nutritional deficiency disease biolink:Disease mondo ICD9:269.9|ICD10:E40.E46|DOID:5113|MedDRA:10046058|ICD9:269.8|EFO:1001067|MESH:D003677|SCTID:363246002|SCTID:70241007|NCIT:C3669 A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) MESH:D003677|NCIT:C3669|SNOMEDCT:70241007|DOID:5113|SNOMEDCT:363246002 http://purl.obolibrary.org/obo/MONDO_0006873 malnutrition|malnourished MONDO:0006874 obstructive jaundice biolink:Disease mondo UMLS:C0022354|DOID:13603|EFO:1001068|MESH:D041781|MedDRA:10029982|SCTID:44018007 A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system. SNOMEDCT:44018007|NCIT:C34742|MESH:D041781|DOID:13603|UMLS:C0022354 http://purl.obolibrary.org/obo/MONDO_0006874 obstructive jaundice NOS|obstructive hyperbilirubinemia|cholestatic jaundice syndrome|cholestatic jaundice MONDO:0006871 non-gestational choriocarcinoma biolink:Disease mondo UMLS:C1135873|MESH:D031954|DOID:4320|EFO:1001064 A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis. UMLS:C1135873|MESH:D031954|DOID:4320 http://purl.obolibrary.org/obo/MONDO_0006871 MONDO:0004212 vulvar keratoacanthoma-like carcinoma biolink:Disease mondo DOID:7408|NCIT:C40288|UMLS:C1520086 A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. DOID:7408|NCIT:C40288|UMLS:C1520086 http://purl.obolibrary.org/obo/MONDO_0004212 vulvar squamous cell carcinoma, keratoacanthoma type MONDO:0006872 nut allergic reaction biolink:Disease mondo UMLS:C0577620|MESH:D021184|DOID:4379|SCTID:91934008|EFO:1001066 Allergic reaction to tree nuts that is triggered by the immune system. DOID:4379|UMLS:C0577620|MESH:D021184|SNOMEDCT:91934008 http://purl.obolibrary.org/obo/MONDO_0006872 nut allergy|allergy of 022 tree nuts (tn) (ccpr)|nut allergic reaction|022 tree nuts (tn) (ccpr) allergic disease|allergy to nuts MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor biolink:Disease mondo NCIT:C27448|ICDO:8152/1|DOID:7402|UMLS:C3274140 A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. DOID:7402|NCIT:C27448|UMLS:C3274140 http://purl.obolibrary.org/obo/MONDO_0004211 L-cell glucagon-like peptide producing tumor|L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide-producing neuroendocrine tumor HP:0005508 Monoclonal immunoglobulin M proteinemia biolink:PhenotypicFeature mondo UMLS:C0024419|SNOMEDCT_US:190817009|MSH:D008258|SNOMEDCT_US:35562000|SNOMEDCT_US:190818004 Presence of a monoclonal immunoglobulin M protein in the serum. http://purl.obolibrary.org/obo/HP_0005508 Waldenstrom macroglobulinemia MONDO:0006870 obsolete noma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006870 HGNC:26114 EDC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/26114 HGNC:26113 TCTN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26113 MONDO:0016207 phacoanaphylactic uveitis biolink:Disease mondo SCTID:410494003|UMLS:C1444621|Orphanet:209959|ICD10:H20.2 Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins. UMLS:C1444621|SNOMEDCT:410494003|ORPHA:209959 http://purl.obolibrary.org/obo/MONDO_0016207 Phacoantigenic endophthalmitis|endophthalmitis phacoanaphylactica|lens-induced iridocyclitis|lens-induced uveitis|lens-induced endophthalmitis|Phako-anaphylactic endophthalmitis|Phacoallergic endophthalmitis ordo_disease UBERON:0001095 caudal vertebra biolink:AnatomicalEntity mondo Any vertebral bone that is part of the caudal region of the vertebral column (tail or coccyx). http://purl.obolibrary.org/obo/UBERON_0001095 coccygea|caudal vertebrae|fused tail vertebra|caudal vertebral bone|caudal vertebra|coccygeal segment|caudal vertebral bone element|tail vertebra|coccygeal vertebra MONDO:0016208 solitary rectal ulcer syndrome biolink:Disease mondo Orphanet:209964|UMLS:C4274343|UMLS:CN200964|ICD10:K62.6|SCTID:716685003 Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum. SNOMEDCT:716685003|UMLS:C4274343|UMLS:CN200964|ORPHA:209964 http://purl.obolibrary.org/obo/MONDO_0016208 ordo_disease UBERON:0001094 sacral vertebra biolink:AnatomicalEntity mondo A vertebra bone that is part of the sacral region of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0001094 segment of sacrum|sacral segment MONDO:0018869 cobblestone lissencephaly biolink:Disease mondo Orphanet:51577|ICD10:Q04.3|SCTID:253149002 Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent. ORPHA:51577|SNOMEDCT:253149002 http://purl.obolibrary.org/obo/MONDO_0018869 lissencephaly type 2 ordo_group_of_disorders MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood biolink:Disease mondo UMLS:CN226880|Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities. UMLS:CN226880|ORPHA:209973 http://purl.obolibrary.org/obo/MONDO_0016209 benign nocturnal alternating hemiplegia of childhood|benign familial nocturnal alternating hemiplegia in childhood ordo_disease UBERON:0001096 wall of esophagus biolink:AnatomicalEntity mondo An anatomical wall that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001096 esophagus anatomical wall|gullet anatomical wall|wall of oesophagus|wall of gullet|anatomical wall of oesophagus|esophagus wall|gullet wall|anatomical wall of esophagus|anatomical wall of gullet|oesophagus wall|esophageal wall|oesophagus anatomical wall HP:0005506 Chronic myelogenous leukemia biolink:PhenotypicFeature mondo MSH:D015464|SNOMEDCT_US:92818009|DOID:8552|UMLS:C0023473|SNOMEDCT_US:63364005 A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. http://purl.obolibrary.org/obo/HP_0005506 Chronic myelogenous leukaemia|Chronic myeloid leukemia|Chronic myelocytic leukemia MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency biolink:Disease mondo Orphanet:209902|ICD10:E78.0 ORPHA:209902 http://purl.obolibrary.org/obo/MONDO_0016203 ordo_disease MONDO:0018866 Aicardi-Goutieres syndrome biolink:Disease mondo Orphanet:51|ICD9:333.0|ICD10:G31.8|SCTID:230312006|GARD:0000575|OMIMPS:225750|MESH:C535607|DOID:0050629 Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis. UMLS:C0393591|SNOMEDCT:230312006|DOID:0050629|MESH:C535607|ORPHA:51 http://purl.obolibrary.org/obo/MONDO_0018866 AGS|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid|Aicardi-Goutières syndrome|Aicardi Goutieres syndrome|encephalopathy with basal ganglia calcification|encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis|Cree encephalitis|pseudotoxoplasmosis syndrome|Cree encephalitis clingen|gard_rare|ordo_disease UBERON:0001091 calcareous tooth biolink:AnatomicalEntity mondo Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. http://purl.obolibrary.org/obo/UBERON_0001091 dental element|dentine containing tooth|tooth|vertebrate tooth MONDO:0016204 idiopathic copper-associated cirrhosis biolink:Disease mondo Orphanet:209919|ICD10:K74.6|SCTID:715864007 Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. SNOMEDCT:715864007|ORPHA:209919 http://purl.obolibrary.org/obo/MONDO_0016204 non-Wilsonian hepatic copper toxicosis of infancy and childhood ordo_disease MONDO:0018865 striate palmoplantar keratoderma biolink:Disease mondo Orphanet:50942|ICD10:Q82.8|UMLS:CN205191|SCTID:764958008 Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed. SNOMEDCT:764958008|ORPHA:50942|UMLS:CN205191 http://purl.obolibrary.org/obo/MONDO_0018865 keratosis palmoplantaris striata|keratosis palmoplantaris striata et areata|keratosis palmoplantaris varians of Wachters ordo_disease UBERON:0001090 synovial fluid biolink:AnatomicalEntity mondo Joint fluid is a transudate of plasma that is actively secreted by synovial cells. http://purl.obolibrary.org/obo/UBERON_0001090 joint fluid MONDO:0018868 metachromatic leukodystrophy biolink:Disease mondo Orphanet:512|UMLS:C0023522|ICD10:E75.25|DOID:10581|ICD10:E75.2|NCIT:C61251|MESH:D007966|MedDRA:10067609|ICD10:E75.29|SCTID:66521008 Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. SNOMEDCT:66521008|DOID:10581|MEDDRA:10067609|UMLS:C2713319|MESH:C538597|ORPHA:512|NCIT:C61251|MESH:D007966|UMLS:C0023522 http://purl.obolibrary.org/obo/MONDO_0018868 MLD|sulfatide lipoidosis|deficiency of cerebroside-sulfatase|arylsulfatase A deficiency|Scholz cerebral sclerosis ordo_disease MONDO:0016205 IRVAN syndrome biolink:Disease mondo UMLS:C3665812|ICD10:H35.0|Orphanet:209943|GARD:0012868 UMLS:C3665812|ORPHA:209943 http://purl.obolibrary.org/obo/MONDO_0016205 idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome|idiopathic retinal-aneurysms-neuroretinitis syndrome ordo_disease MONDO:0016206 idiopathic uveal effusion syndrome biolink:Disease mondo UMLS:CN200962|Orphanet:209956 UMLS:CN200962|ORPHA:209956 http://purl.obolibrary.org/obo/MONDO_0016206 ordo_disease MONDO:0018867 obsolete maple syrup urine disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018867 UBERON:3000982 tail external integument structure biolink:AnatomicalEntity mondo Dermal, epidermal, glandular and pigment structures of the tail integument. http://purl.obolibrary.org/obo/UBERON_3000982 MONDO:0018862 obsolete cat-scratch disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018862 MONDO:0016200 qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - biolink:Disease mondo Orphanet:209203 ORPHA:209203 http://purl.obolibrary.org/obo/MONDO_0016200 qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type - ordo_group_of_disorders MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies biolink:Disease mondo UMLS:C4305104|SCTID:718880003|ICD10:Q87.8|UMLS:CN205183|Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. ORPHA:50812|UMLS:C4305104|SNOMEDCT:718880003|UMLS:CN205183 http://purl.obolibrary.org/obo/MONDO_0018861 AHN-Lerman-Sagie syndrome ordo_disease MONDO:0018864 Kikuchi-Fujimoto disease biolink:Disease mondo SCTID:127217009|NCIT:C71719|GARD:0006834|UMLS:C0398367|MESH:D020042|Orphanet:50918|ICD10:I88.1 Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat. NCIT:C71719|ORPHA:50918|UMLS:C0398367|SNOMEDCT:127217009|MESH:D020042 http://purl.obolibrary.org/obo/MONDO_0018864 Kikuchi necrotizing lymphadenitis|histiocytic necrotizing lymphadenitis|histiocytic necrotising lymphadenitis|Kikuchi's disease|nosocomial Kikuchi's disease|Kikuchi-Fujimoto's disease|Kikuchi disease ordo_disease MONDO:0016201 qualitative or quantitative defects of myotilin biolink:Disease mondo Orphanet:209224 ORPHA:209224 http://purl.obolibrary.org/obo/MONDO_0016201 ordo_group_of_disorders MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment biolink:Disease mondo ICD10:H33.0|UMLS:C1836081|Orphanet:209867 Autosomal dominant form of rhegmatogenous retinal detachment. ORPHA:209867|UMLS:C1836081 http://purl.obolibrary.org/obo/MONDO_0016202 rhegmatogenous retinal detachment, autosomal dominant ordo_disease MONDO:0018863 obsolete leptospirosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018863 HGNC:16791 TSEN15 biolink:OntologyClass mondo http://identifiers.org/hgnc/16791 MONDO:0018860 microlissencephaly-micromelia syndrome biolink:Disease mondo UMLS:CN205181|Orphanet:50810|ICD10:Q04.3 Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. ORPHA:50810|UMLS:CN205181 http://purl.obolibrary.org/obo/MONDO_0018860 Basel-Vanagaite-Sirota syndrome ordo_malformation_syndrome MONDO:0004229 acantholytic variant squamous cell breast carcinoma biolink:Disease mondo UMLS:C1519485|NCIT:C40359|DOID:7459|EFO:1001969 A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern. DOID:7459|NCIT:C40359|UMLS:C1519485 http://purl.obolibrary.org/obo/MONDO_0004229 squamous cell breast carcinoma, acantholytic variant MONDO:0004228 obsolete hypogonadotropism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004228 UBERON:0037094 wall of common carotid artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0037094 common carotid arterial wall MONDO:0006888 paraneoplastic polyneuropathy biolink:Disease mondo DOID:8681|SCTID:77659000|UMLS:C0270932|MESH:D020364|EFO:1001085|ICD9:357.3|MedDRA:10062289|NCIT:C3981 A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure. DOID:8681|NCIT:C3981|UMLS:C0270932|SNOMEDCT:77659000|MESH:D020364 http://purl.obolibrary.org/obo/MONDO_0006888 paraneoplastic polyneuropathy MONDO:0004225 monoclonal gammopathy of uncertain significance biolink:Disease mondo NCIT:C3996|SCTID:58648008|GARD:0007034|ONCOTREE:MGUS|MESH:D008998|ICD9:238.6|UMLS:C0026470|SCTID:277577000|ICDO:9765/1|EFO:1000836|DOID:7442 A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. DOID:7442|NCIT:C3996|UMLS:C0026470|MESH:D008998|SNOMEDCT:277577000|SNOMEDCT:58648008 http://purl.obolibrary.org/obo/MONDO_0004225 monoclonal gammopathy, benign|benign monoclonal gammopathy|MGUS|monoclonal gammopathy of unknown significance|monoclonal gammopathy of undetermined significance (morphologic abnormality)|monoclonal gammopathy of undetermined significance|monoclonal gammopathy of undetermined significance (MGUS)|monoclonal gammopathy Of undetermined significance (MGUS) MONDO:0006889 paraphimosis biolink:Disease mondo SCTID:13758004|MESH:D010263|ICD10:N47.2|MedDRA:10033890|UMLS:C0030483|DOID:5334|EFO:1001086|NCIT:C34893 A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene. SNOMEDCT:13758004|DOID:5334|UMLS:C0030483|NCIT:C34893|MESH:D010263 http://purl.obolibrary.org/obo/MONDO_0006889 MONDO:0004224 chronic metabolic polyneuropathy biolink:Disease mondo NCIT:C35602|UMLS:C1333042|DOID:7441 DOID:7441|UMLS:C1333042|NCIT:C35602 http://purl.obolibrary.org/obo/MONDO_0004224 chronic metabolic polyneuropathy MONDO:0004227 epididymal adenomatoid tumor biolink:Disease mondo SCTID:449052009|DOID:745|NCIT:C6382|UMLS:C1333415 A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis. UMLS:C1333415|SNOMEDCT:449052009|DOID:745|NCIT:C6382 http://purl.obolibrary.org/obo/MONDO_0004227 benign epididymal epithelial mesothelioma|adenomatoid tumor of epididymis|adenomatoid tumor of the epididymis|adenomatoid neoplasm of epididymis|adenomatoid neoplasm of the epididymis|epididymis adenomatoid tumor|epididymal adenomatoid tumor MONDO:0006886 thyroid gland papillary and follicular carcinoma biolink:Disease mondo DOID:3968|MESH:D018265|NCIT:C7380|EFO:1001083|UMLS:C0206683 A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271) UMLS:C0206683|NCIT:C7380|MESH:D018265|DOID:3968 http://purl.obolibrary.org/obo/MONDO_0006886 papillary follicular thyroid adenocarcinoma|papillary and follicular adenocarcinoma|thyroid gland papillary and follicular carcinoma|papillary and follicular carcinoma MONDO:0004226 diffuse intraductal papillomatosis biolink:Disease mondo NCIT:C7364|UMLS:C1377912|DOID:7444 UMLS:C1377912|DOID:7444|NCIT:C7364 http://purl.obolibrary.org/obo/MONDO_0004226 diffuse intraductal papillomatosis MONDO:0006887 parametritis biolink:Disease mondo MESH:D010249|SCTID:280483007|EFO:1001084|DOID:1260|UMLS:C0030455 Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament. UMLS:C0030455|MESH:D010249|DOID:1260|SNOMEDCT:280483007 http://purl.obolibrary.org/obo/MONDO_0006887 inflammation of parametrium|parametrium inflammation|pelvic cellulitis MONDO:0004221 uterine corpus perivascular epithelioid cell tumor biolink:Disease mondo ONCOTREE:UPECOMA|DOID:7437|NCIT:C40180|UMLS:C1519862 A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall. DOID:7437|NCIT:C40180|UMLS:C1519862 http://purl.obolibrary.org/obo/MONDO_0004221 uterine perivascular epithelioid cell tumor|uterine corpus PEComa|uterus perivascular epithelioid cell tumor|uterine corpus perivascular epithelioid cell tumor|body of uterus neoplasm with perivascular epithelioid cell differentiation MONDO:0006884 panophthalmitis biolink:Disease mondo ICD9:360.02|COHD:438738|SCTID:33382000|MESH:D010202|MedDRA:10033683|EFO:1001081|DOID:13732|UMLS:C0030332 Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture. UMLS:C0030332|DOID:13732|MESH:D010202|SNOMEDCT:33382000 http://purl.obolibrary.org/obo/MONDO_0006884 MONDO:0006885 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006885 MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells biolink:Disease mondo DOID:7436|NCIT:C27850|UMLS:C1336913 A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells. NCIT:C27850|UMLS:C1336913|DOID:7436 http://purl.obolibrary.org/obo/MONDO_0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells|sarcomatoid uterine corpus endometrioid adenocarcinoma MONDO:0004223 polyp of middle ear biolink:Disease mondo SCTID:73103007|DOID:7439|UMLS:C0271466|ICD10:H74.4|NCIT:C6933 A benign polypoid growth in the middle ear. DOID:7439|UMLS:C0271466|SNOMEDCT:73103007|NCIT:C6933 http://purl.obolibrary.org/obo/MONDO_0004223 polyp - middle ear|middle Ear polyp|middle ear polyp|polyp of the middle ear MONDO:0043875 tumor lysis syndrome biolink:Disease mondo UMLS:C0041364|NCIT:C3425|SCTID:277605001|EFO:1001479|MESH:D015275 A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death. MESH:D015275|NCIT:C3425|SNOMEDCT:277605001|UMLS:C0041364 http://purl.obolibrary.org/obo/MONDO_0043875 tumor lysis syndrome|syndrome, tumor lysis|syndromes, tumor lysis|syndromes, tumour lysis|syndrome, tumour lysis|tumour lysis syndromes|tumor lysis syndromes|tumour lysis syndrome MONDO:0006882 orchitis (disease) biolink:Disease mondo NCIT:C97145|SCTID:274718005|UMLS:C0029191|MedDRA:10031064|EFO:1001078|MESH:D009920|DOID:2518|HP:0100796|ICD10:N45.2 Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation. SNOMEDCT:274718005|MESH:D009920|DOID:2518|NCIT:C97145|UMLS:C0029191 http://purl.obolibrary.org/obo/MONDO_0006882 testis inflammation|testisitis|Orchititis|Inflammation of testis|orchitis|inflammation of testis MONDO:0006883 malignant superior sulcus neoplasm biolink:Disease mondo UMLS:C0549471|NCIT:C7527|DOID:8007|SCTID:254638002|EFO:1001080 A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. UMLS:C0549471|NCIT:C7527|DOID:8007|SNOMEDCT:254638002 http://purl.obolibrary.org/obo/MONDO_0006883 malignant Superior sulcus tumor of the lung|pulmonary sulcus neoplasm, malignant|malignant Superior sulcus neoplasm of lung|malignant Superior sulcus neoplasm of the lung|malignant pulmonary sulcus neoplasm|malignant Superior sulcus lung tumor|superior sulcus tumor|malignant Superior sulcus lung neoplasm|Pancoast tumor|superior pulmonary sulcus syndrome|Pancoast's tumor|Pancoast's tumour|superior pulmonary sulcus syndrome (disorder) [ambiguous]|malignant Superior sulcus neoplasm|Pancoast's syndrome|malignant Superior sulcus tumor|malignant Superior sulcus tumor of lung|pulmonary sulcus tumor MONDO:0004222 ovarian clear cell cystadenocarcinoma biolink:Disease mondo UMLS:C0279667|DOID:7438|NCIT:C7980 A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures. DOID:7438|UMLS:C0279667|NCIT:C7980 http://purl.obolibrary.org/obo/MONDO_0004222 ovarian clear cell cystadenocarcinoma MONDO:0006880 oral leukoedema biolink:Disease mondo DOID:4557|MedDRA:10057365|UMLS:C0023523|EFO:1001075|ICD9:528.79|MESH:D007967|SCTID:67795000 A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed) SNOMEDCT:67795000|DOID:4557|MESH:D007967|UMLS:C0023523 http://purl.obolibrary.org/obo/MONDO_0006880 leukedema of mouth MONDO:0006881 orbital cellulitis biolink:Disease mondo SCTID:194005002|COHD:434942|EFO:1001076|DOID:11234|NCIT:C99000|UMLS:C0149507|MESH:D054517|ICD9:376.01|MedDRA:10031036|ICD10:H05.01 Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. MESH:D054517|NCIT:C99000|SNOMEDCT:194005002|DOID:11234|UMLS:C0149507 http://purl.obolibrary.org/obo/MONDO_0006881 orbital cellulitis UBERON:0013067 colorectal mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a colorectum. http://purl.obolibrary.org/obo/UBERON_0013067 UBERON:0013069 popliteal area biolink:AnatomicalEntity mondo A depression on the ventral side of the femur, at the knee joint, between the condyles. http://purl.obolibrary.org/obo/UBERON_0013069 knee pit|popliteal region|popliteal fossa|popliteal space UBERON:0001084 skin of head biolink:AnatomicalEntity mondo A zone of skin that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001084 head zone of skin|zone of skin of adult head|head skin|adult head zone of skin|zone of skin of head MONDO:0018859 obsolete Leigh disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018859 MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome biolink:Disease mondo ICD10:L66.1|UMLS:CN205176|GARD:0003195|Orphanet:505|SCTID:718215008 Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. SNOMEDCT:718215008|ORPHA:505|UMLS:CN205176 http://purl.obolibrary.org/obo/MONDO_0018858 Graham-Little-Piccardi-Lassueur syndrome|Piccardi-Lassueur-Little syndrome|Graham Little syndrome gard_rare|ordo_disease UBERON:0001083 myocardium of ventricle biolink:AnatomicalEntity mondo Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer. http://purl.obolibrary.org/obo/UBERON_0001083 ventricle cardiac muscle|ventricular myocardium|ventricle myocardium UBERON:0001085 skin of trunk biolink:AnatomicalEntity mondo A zone of skin that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001085 torso zone of skin|trunk zone of skin|trunk skin|zone of skin of trunk|zone of skin of torso MONDO:0018855 keratosis pilaris atrophicans biolink:Disease mondo SCTID:400059005|OMIM:604093|ICD9:757.39|MESH:C537412|Orphanet:498|ICD10:L85.8|GARD:0001042 An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair. MESH:C537412|ORPHA:498|http://identifiers.org/omim/604093|SNOMEDCT:400059005 http://purl.obolibrary.org/obo/MONDO_0018855 honeycomb atrophy|keratosis pilaris atrophicans facies|Atrophodermia reticulata symmetrica faciei|keratosis pilaris|burnett Schwartz Berberian syndrome|folliculitis ulerythematosa|amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2|ulerythema ophryogenesis|keratosis pilaris atrophicans; KPA|ulerythema ophryogenes with multiple congenital anomalies|ulerythema ophryogenes|folliculitis ulerythematosa reticulata|Atrophodermia reticulata|Atrophodermia vermiculata|KPA ordo_group_of_disorders|gard_rare MONDO:0018854 acquired purpura fulminans biolink:Disease mondo Orphanet:49566|UMLS:C4510896|UMLS:CN205163|MedDRA:10037556|SCTID:725157006|ICD10:D65 Purpura fulminans (PF) is a life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF. UMLS:C4510896|SNOMEDCT:725157006|MEDDRA:10037556|UMLS:C0043068|MESH:D014884|UMLS:C0085650|MESH:D055665|UMLS:CN205163|ORPHA:49566 http://purl.obolibrary.org/obo/MONDO_0018854 acquired purpura fulminans ordo_disease UBERON:0001082 epicardium of ventricle biolink:AnatomicalEntity mondo An epicardial layer that lines a cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0001082 ventricular epicardium|cardiac ventricle epicardium MONDO:0018857 creeping myiasis biolink:Disease mondo MedDRA:10059547|UMLS:C1562462|Orphanet:504|SCTID:417441005|ICD10:B87.0|GARD:0001609 UMLS:C0546999|UMLS:C1562462|ORPHA:504|MEDDRA:10059547|MESH:D007815|SNOMEDCT:417441005 http://purl.obolibrary.org/obo/MONDO_0018857 migratory myiasis gard_rare|ordo_disease UBERON:0001081 endocardium of ventricle biolink:AnatomicalEntity mondo Endocardium that is part of the cardiac ventricle. http://purl.obolibrary.org/obo/UBERON_0001081 endocardium of lower chamber of heart|endocardium of ventricle of heart|heart ventricle endocardium|ventricle endocardial tissue|endocardium of heart ventricle|ventricle endocardium|ventricular endocardium|lower chamber of heart endocardium|ventricle of heart endocardium|cardiac ventricle endocardium|endocardium of cardiac ventricle MONDO:0018856 lichen amyloidosis biolink:Disease mondo ICD10:L99.0*|SCTID:718105008|Orphanet:49804|ICD10:E85.4+ Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis. SNOMEDCT:718105008|ORPHA:49804 http://purl.obolibrary.org/obo/MONDO_0018856 lichen amyloidosus|amyloid lichen ordo_disease MONDO:0018851 familial keratoacanthoma biolink:Disease mondo Orphanet:493|UMLS:CN227546|ICD10:L85.8|SCTID:716774008 Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. SNOMEDCT:716774008|UMLS:CN227546|ORPHA:493 http://purl.obolibrary.org/obo/MONDO_0018851 multiple keratoacanthoma|hereditary keratoacanthoma ordo_disease MONDO:0018850 proliferating trichilemmal cyst biolink:Disease mondo GARD:0004509|Orphanet:492|SCTID:254678009|NCIT:C27125|UMLS:C0345992|ICDO:8103/1|ICDO:8103/0|ONCOTREE:PPCT|UMLS:C2959585|ICD10:L72.1 Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues. SNOMEDCT:254678009|UMLS:C0345992|ORPHA:492|UMLS:C2959585|NCIT:C27125 http://purl.obolibrary.org/obo/MONDO_0018850 proliferating Pilar tumor|proliferating trichilemmal tumor|proliferating pilar cystic tumor|Pilar tumor|Pilar cyst|proliferating pilar cyst|proliferating Tricholemmal tumor ordo_disease|gard_rare MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma biolink:Disease mondo Orphanet:495|UMLS:CN205162|ICD10:Q82.8 ORPHA:495|UMLS:CN205162 http://purl.obolibrary.org/obo/MONDO_0018853 transgrediens et progrediens PPK|Greither disease|progressive diffuse PPK|keratosis extremitatum hereditaria progrediens|keratosis palmoplantaris transgrediens et progrediens|progressive diffuse palmoplantar keratoderma ordo_disease MONDO:0018852 achromatopsia biolink:Disease mondo MedDRA:10000454|NCIT:C84528|Orphanet:49382|ICD9:368.54|UMLS:C0152200|ICD10:H53.51|ICD10:H53.5|DOID:13911|SCTID:102450007 Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. UMLS:C0152200|MEDDRA:10000454|ORPHA:49382|SNOMEDCT:102450007|DOID:13911|NCIT:C84528 http://purl.obolibrary.org/obo/MONDO_0018852 monochromatism|Rod monochromacy|complete or incomplete color blindness|total color blindness|ACHM|Rod monochromatism|Pingelapese blindness clingen|ordo_disease UBERON:0001088 urine biolink:AnatomicalEntity mondo Excretion that is the output of a kidney http://purl.obolibrary.org/obo/UBERON_0001088 UBERON:0001087 pleural fluid biolink:AnatomicalEntity mondo Transudate contained in the pleural cavity. http://purl.obolibrary.org/obo/UBERON_0001087 UBERON:0001089 sweat biolink:AnatomicalEntity mondo Secretion produced by a sweat gland. http://purl.obolibrary.org/obo/UBERON_0001089 skin exudate MONDO:0016260 uterine corpus rhabdomyosarcoma biolink:Disease mondo UMLS:C4288047|Orphanet:213615|ICD10:C54.2|NCIT:C127058 A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor. UMLS:C4288047|ORPHA:213615|NCIT:C127058 http://purl.obolibrary.org/obo/MONDO_0016260 uterine corpus rhabdomyosarcoma|body of uterus rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of body of uterus|rhabdomyosarcoma of the corpus uteri|body of uterus rhabdomyosarcoma ordo_disease MONDO:0004279 glossopharyngeal motor neuropathy biolink:Disease mondo DOID:7558|NCIT:C27212|UMLS:C0751942 Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390) NCIT:C27212|UMLS:C0751942|DOID:7558 http://purl.obolibrary.org/obo/MONDO_0004279 glossopharyngeal nerve motor peripheral neuropathy|motor peripheral neuropathy of glossopharyngeal nerve MONDO:0004276 ceruminoma biolink:Disease mondo NCIT:C6088|UMLS:C0334352|UMLS:C1333488|SCTID:403945001|DOID:7549|ICDO:8420/0 A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm. SNOMEDCT:403945001|NCIT:C6088|UMLS:C0334352|DOID:7549|UMLS:C1333488 http://purl.obolibrary.org/obo/MONDO_0004276 ceruminous adenoma of the external auditory canal|external auditory canal ceruminous adenoma|ceruminous adenoma of external auditory canal|ceruminous adenoma (morphologic abnormality)|ceruminous adenoma|adenoma, ceruminous gland, benign MONDO:0004275 osteosarcoma arising in bone Paget disease biolink:Disease mondo DOID:7542|ICDO:9184/3|NCIT:C6469|UMLS:C1335148 A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis. NCIT:C6469|UMLS:C1335148|DOID:7542 http://purl.obolibrary.org/obo/MONDO_0004275 osteosarcoma arising in bone Paget's disease|Paget osteosarcoma|osteosarcoma arising in Paget disease of bone|osteosarcoma arising in osseous Paget's disease|osteosarcoma arising in Paget's disease of bone|osteosarcoma arising in bone Paget disease|Paget's osteosarcoma|osteosarcoma arising in osteitis deformans MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant biolink:Disease mondo UMLS:C1512743|ONCOTREE:SCB|DOID:7553|NCIT:C39824|EFO:1000303|UMLS:C1512745|UMLS:C1512744 An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features. UMLS:C1512744|UMLS:C1512745|UMLS:C1512743|NCIT:C39824|DOID:7553 http://purl.obolibrary.org/obo/MONDO_0004278 sarcomatoid carcinoma of the urinary bladder|infiltrating bladder urothelial carcinoma sarcomatoid variant|infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements|infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements MONDO:0004277 gonorrhea biolink:Disease mondo SCTID:15628003|ICD10:A54.9|ICD9:098.32|MESH:D006069|ICD9:098.2|GARD:0006499|NCIT:C92950|UMLS:C0018081|ICD9:098|DOID:7551|ICD9:098.89|ICD10:A54|COHD:433417 A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease. MESH:D006069|NCIT:C92950|UMLS:C0018081|SNOMEDCT:15628003|DOID:7551 http://purl.obolibrary.org/obo/MONDO_0004277 infections, Neisseria gonorrhoeae|acrodermatitis, papular infantile|chronic gonococcal infectious disease of upper genitourinary tract|GC|Neisseria gonorrhoeae infection|PAS|PAC|chronic gonococcal infectious disease of lower genitourinary tract|acrodermatitis, infantile lichenoid|Crosti-gianotti syndrome|papular acrodermatitis of childhood|Gianotti Crosti syndrome MONDO:0004272 urinary bladder tuberculosis biolink:Disease mondo DOID:754|SCTID:32268008|ICD10:A18.12|UMLS:C0152793|ICD9:016.10|ICD9:016.14|ICD9:016.1 A tuberculosis that involves the urinary bladder. SNOMEDCT:32268008|UMLS:C0152793|DOID:754 http://purl.obolibrary.org/obo/MONDO_0004272 tuberculous cystitis|tuberculosis of bladder, unspecified examination|bladder tuberculous|urinary bladder tuberculosis|tuberculosis of bladder|bladder tuberculosis MONDO:0004271 pregnancy adenoma biolink:Disease mondo ICDO:8204/0|DOID:7539|NCIT:C9473|UMLS:C1266023 A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes. DOID:7539|UMLS:C1266023|NCIT:C9473 http://purl.obolibrary.org/obo/MONDO_0004271 Lactating adenoma|Lactating adenoma (morphologic abnormality) MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma biolink:Disease mondo ONCOTREE:MMBC|UMLS:C1513365|DOID:7541|NCIT:C40364 An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous. NCIT:C40364|DOID:7541|UMLS:C1513365 http://purl.obolibrary.org/obo/MONDO_0004274 mixed type metaplastic breast cancer|breast carcinosarcoma MONDO:0004273 breast apocrine adenoma biolink:Disease mondo DOID:7540|UMLS:C1388299|NCIT:C40383 A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia. UMLS:C1388299|DOID:7540|NCIT:C40383 http://purl.obolibrary.org/obo/MONDO_0004273 breast apocrine adenoma|apocrine adenoma of breast ECTO:9001975 antimicrobial food preservative exposure biolink:OntologyClass mondo An exposure to antimicrobial food preservative. http://purl.obolibrary.org/obo/ECTO_9001975 exposure to antimicrobial food preservative MONDO:0004270 breast ductal adenoma biolink:Disease mondo NCIT:C40384|DOID:7538|UMLS:C1511307 A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor. NCIT:C40384|DOID:7538|UMLS:C1511307 http://purl.obolibrary.org/obo/MONDO_0004270 breast ductal adenoma|ductal adenoma MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri biolink:Disease mondo ICD10:C54.3|Orphanet:213731|ICD10:C54.2|ICD10:C54.1|ICD10:C54.0|ICD10:C54.8|UMLS:CN201058 High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated. UMLS:CN201058|ORPHA:213731 http://purl.obolibrary.org/obo/MONDO_0016269 poorly differentiated neuroendocrine carcinoma of the endometrium|high-grade neuroendocrine carcinoma of the uterine corpus|poorly differentiated neuroendocrine carcinoma of the corpus uteri ordo_disease HP:0005561 Abnormality of bone marrow cell morphology biolink:PhenotypicFeature mondo SNOMEDCT_US:127035006|UMLS:C4021634|MSH:D001855|UMLS:C0005956 An anomaly of the form or number of cells in the bone marrow. http://purl.obolibrary.org/obo/HP_0005561 Bone marrow disease|Anomaly of the bone marrow cells MONDO:0016265 obsolete endometrial stromal sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016265 MONDO:0016266 squamous cell carcinoma of the corpus uteri biolink:Disease mondo ICD10:C50|Orphanet:213716 A squamous cell carcinoma that involves the body of uterus. ORPHA:213716 http://purl.obolibrary.org/obo/MONDO_0016266 endometrial squamous cell carcinoma|body of uterus squamous cell carcinoma ordo_disease MONDO:0016267 undifferentiated carcinoma of the corpus uteri biolink:Disease mondo ICD10:C50|Orphanet:213721 Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported. ORPHA:213721 http://purl.obolibrary.org/obo/MONDO_0016267 endometrial undifferentiated carcinoma|body of uterus undifferentiated carcinoma ordo_disease MONDO:0016268 papillary carcinoma of the corpus uteri biolink:Disease mondo Orphanet:213726|ICD10:C54.1|UMLS:CN201057 A papillary carcinoma that involves the body of uterus. UMLS:CN201057|ORPHA:213726 http://purl.obolibrary.org/obo/MONDO_0016268 body of uterus papillary carcinoma|endometrial capillary carcinoma ordo_disease MONDO:0016261 obsolete sarcoma of the corpus uteri biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016261 MONDO:0016262 leiomyosarcoma of the corpus uteri biolink:Disease mondo UMLS:C0280631|ONCOTREE:ULMS|ICD10:C54.2|NCIT:C6340|Orphanet:213625|DOID:5289|SCTID:447389009 An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C6340|DOID:5289|ORPHA:213625|SNOMEDCT:447389009|UMLS:C0280631 http://purl.obolibrary.org/obo/MONDO_0016262 uterine leiomyosarcoma|corpus uteri leiomyosarcoma|leiomyosarcoma of uterine body|leiomyosarcoma of the uterine body|leiomyosarcoma of uterus|leiomyosarcoma of the uterus|body of uterus leiomyosarcoma|uterine body leiomyosarcoma|uterus leiomyosarcoma|leiomyosarcoma of corpus uteri|leiomyosarcoma of body of uterus|leiomyosarcoma of uterine corpus|leiomyosarcoma of the body of uterus|leiomyosarcoma - uterus|leiomyosarcoma of the corpus uteri|leiomyosarcoma of the uterine corpus|uterine corpus leiomyosarcoma ordo_disease MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri biolink:Disease mondo Orphanet:213630|UMLS:CN201052|ICD10:C54.8|ICD10:C54.3|ICD10:C54.2|ICD10:C54.1|ICD10:C54.0 A primitive neuroectodermal tumor that involves the body of uterus. UMLS:CN201052|ORPHA:213630 http://purl.obolibrary.org/obo/MONDO_0016263 body of uterus primitive neuroectodermal tumor|peripheral neuroectodermal cancer of the corpus uteri|malignant peripheral neuroectodermal tumor of the corpus uteri|primitive neuroectodermal tumor of body of uterus ordo_disease MONDO:0016264 autoimmune hepatitis biolink:Disease mondo MedDRA:10003827|UMLS:C1332355|GARD:0005871|NCIT:C27029|UMLS:C0241910|DOID:2048|SCTID:408335007|Orphanet:2137|ICD10:K75.4|EFO:0005676|MESH:D019693|COHD:200762|ICD9:571.42 Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma. MESH:D019693|MEDDRA:10003827|ORPHA:2137|UMLS:C1332355|UMLS:C0241910|SNOMEDCT:408335007|DOID:2048|NCIT:C27029 http://purl.obolibrary.org/obo/MONDO_0016264 autoimmune liver disease|autoimmune chronic active hepatitis|autoimmune hepatitis|AIH|chronic autoimmune hepatitis|autoimmune chronic hepatitis|autoimmune hepatitis with centrilobular necrosis gard_rare|ordo_disease HGNC:28769 DRAM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/28769 MONDO:0004287 pancreatic foamy gland adenocarcinoma biolink:Disease mondo DOID:7577|UMLS:C1335303|NCIT:C37256 A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm. UMLS:C1335303|NCIT:C37256|DOID:7577 http://purl.obolibrary.org/obo/MONDO_0004287 pancreatic foamy gland adenocarcinoma MONDO:0004286 pancreatic intraductal papillary-mucinous neoplasm biolink:Disease mondo DOID:7575|UMLS:C1518869|NCIT:C38342|ONCOTREE:IPMN A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus. NCIT:C38342|UMLS:C1518869|DOID:7575 http://purl.obolibrary.org/obo/MONDO_0004286 pancreatic intraductal papillary-mucinous neoplasm|pancreatic intraductal papillary-mucinous tumor|intraductal papillary mucinous neoplasm|IPMN|pancreatic IPMN MONDO:0004289 glottis verrucous carcinoma biolink:Disease mondo NCIT:C8189|UMLS:C0280329|DOID:7583 An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness. UMLS:C0280329|DOID:7583|NCIT:C8189 http://purl.obolibrary.org/obo/MONDO_0004289 verrucous carcinoma of the glottis|glottis verrucous carcinoma|glottic verrucous carcinoma|verrucous carcinoma of glottis MONDO:0004288 scirrhous breast carcinoma biolink:Disease mondo UMLS:C0346151|DOID:7578|SCTID:254839007|ICDO:8514/3|NCIT:C7362 An infiltrating ductal breast carcinoma associated with stromal fibrosis. SNOMEDCT:254839007|UMLS:C0346151|DOID:7578|NCIT:C7362 http://purl.obolibrary.org/obo/MONDO_0004288 infiltrating carcinoma of the breast with fibrotic Stroma|breast scirrhous carcinoma|scirrhous carcinoma of the breast|infiltrating carcinoma of breast with fibrotic Stroma|scirrhous carcinoma of breast|scirrhous breast carcinoma MONDO:0004283 vulvar clear cell hidradenocarcinoma biolink:Disease mondo NCIT:C40307|UMLS:C1520076|DOID:7567 A vulvar sweat gland carcinoma characterized by the presence of clear cells. UMLS:C1520076|DOID:7567|NCIT:C40307 http://purl.obolibrary.org/obo/MONDO_0004283 vulvar clear cell hidradenocarcinoma MONDO:0004282 obsolete eccrine porocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004282 MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma biolink:Disease mondo Orphanet:424058|ICD10:C25.3|DOID:7574|UMLS:C1335304|NCIT:C5725 A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations. UMLS:C1335304|NCIT:C5725|DOID:7574|ORPHA:424058 http://purl.obolibrary.org/obo/MONDO_0004285 intraductal papillary-colloid carcinoma of the pancreas|pancreatic intraductal papillary-colloidal carcinoma|intraductal papillary-colloidal carcinoma of pancreas|intraductal papillary-colloidal carcinoma of the pancreas|intraductal papillary-mucinous carcinoma of the pancreas|intraductal papillary-mucinous carcinoma of pancreas|pancreatic intraductal papillary mucinous carcinoma|pancreatic intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary-colloid carcinoma|intraductal papillary mucinous carcinoma of pancreas|intraductal papillary-colloid carcinoma of pancreas ordo_disease MONDO:0004284 obsolete malignant cystic nephroma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004284 MONDO:0004281 vulvar eccrine porocarcinoma biolink:Disease mondo NCIT:C40306|DOID:7565|UMLS:C1520081 An eccrine porocarcinoma that arises from the sweat glands in the vulva. UMLS:C1520081|NCIT:C40306|DOID:7565 http://purl.obolibrary.org/obo/MONDO_0004281 mammalian vulva eccrine porocarcinoma|eccrine porocarcinoma of mammalian vulva|vulvar eccrine porocarcinoma MONDO:0004280 asymmetric motor neuropathy biolink:Disease mondo NCIT:C27953|UMLS:C1332341|DOID:7559 NCIT:C27953|DOID:7559|UMLS:C1332341 http://purl.obolibrary.org/obo/MONDO_0004280 MONDO:0016258 uterine corpus carcinofibroma biolink:Disease mondo NCIT:C40182|ICD10:C54.1|ICD10:C54.0|UMLS:C1883485|ICDO:8934/3|ICD10:C54.8|Orphanet:213605|ICD10:C54.3|ICD10:C54.2 An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component. ORPHA:213605|UMLS:C1883485|NCIT:C40182 http://purl.obolibrary.org/obo/MONDO_0016258 uterine corpus Carcinofibroma|Carcinofibroma of the corpus uteri ordo_disease MONDO:0016259 carcinosarcoma of the corpus uteri biolink:Disease mondo Orphanet:213610|NCIT:C9180|GARD:0012335|ICD10:C54.9 An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component. ORPHA:213610|NCIT:C9180 http://purl.obolibrary.org/obo/MONDO_0016259 malignant mixed mesodermal neoplasm of the uterus|uterine corpus malignant mixed Mullerian neoplasm|carcinosarcoma of corpus uteri|malignant mixed mesodermal tumor of uterine body|mixed Mullerian cancer of corpus uteri|uterine corpus malignant mixed Müllerian tumor|malignant mixed mesodermal tumor of the uterine body|carcinosarcoma of uterine corpus|carcinosarcoma of the corpus uteri|uterine corpus carcinosarcoma|malignant mixed Müllerian tumor of the corpus uteri|carcinosarcoma of the uterine corpus|uterine mixed Mullerian sarcoma|uterine body malignant mixed mesodermal neoplasm|malignant mixed mesodermal neoplasm of uterine corpus|malignant mixed mesodermal tumor of uterus|uterine corpus malignant mixed mesodermal (Müllerian) tumor|mixed Mullerian sarcoma of uterus|uterine body malignant mixed mesodermal tumor|malignant mixed mesodermal tumor of the uterus|malignant mixed mesodermal neoplasm of the uterine corpus|mixed Mullerian sarcoma of the uterus|carcinosarcoma of uterine body|malignant mixed müllerian tumor of corpus uteri|body of uterus carcinosarcoma|uterine corpus malignant mixed Müllerian neoplasm|carcinosarcoma of the uterine body|mixed Müllerian cancer of corpus uteri|uterine corpus malignant mixed Mullerian tumor|malignant mixed mesodermal neoplasm of uterine body|uterine carcinosarcoma|malignant mixed mesodermal tumor of uterine corpus|uterine mixed Müllerian sarcoma|malignant mixed mesodermal neoplasm of the uterine body|malignant mixed mesodermal tumor of the uterine corpus|carcinosarcoma of uterus|uterine corpus malignant mixed mesodermal tumor|uterine corpus malignant mixed mesodermal (Mullerian) tumor|uterine malignant mixed mesodermal tumor|mixed Müllerian sarcoma of uterus|malignant mixed Mullerian tumor of the corpus uteri|corpus uteri malignant mixed mesodermal tumor|mixed Müllerian sarcoma of the uterus|carcinosarcoma of the uterus|uterine body carcinosarcoma|uterine malignant mixed mesodermal neoplasm|uterine corpus malignant mixed mesodermal neoplasm|malignant mixed mesodermal neoplasm of uterus ordo_disease MONDO:0016254 rare variants of adenocarcinoma of the corpus uteri biolink:Disease mondo UMLS:CN201043|Orphanet:213574|ICD10:C54.1 UMLS:CN201043|ORPHA:213574 http://purl.obolibrary.org/obo/MONDO_0016254 ordo_disease|obsoletion_candidate MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm biolink:Disease mondo NCIT:C40181|Orphanet:213589|ICD10:C54.3|UMLS:C1519858|ICD10:C54.2|ICD10:C54.1|ICD10:C54.0|ICD10:C54.8 A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma. UMLS:C1519858|NCIT:C40181|ORPHA:213589 http://purl.obolibrary.org/obo/MONDO_0016255 body of uterus mixed neoplasm|uterine corpus mixed epithelial and mesenchymal neoplasm|uterine corpus mixed epithelial and mesenchymal tumor|malignant mixed epithelial and mesenchymal tumor of corpus uteri|mixed epithelial and mesenchymal cancer of corpus uteri ordo_group_of_disorders MONDO:0016256 Hennekam syndrome biolink:Disease mondo DOID:0060366|OMIMPS:235510|ICD10:Q87.8|SCTID:234146006|ICD9:457.1|GARD:0003318|Orphanet:2136|UMLS:C0340834 Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. DOID:0060366|UMLS:C0340834|SNOMEDCT:234146006|ORPHA:2136 http://purl.obolibrary.org/obo/MONDO_0016256 lymphedema-lymphangiectasia-intellectual disability syndrome|Hennekam lymphangiectasia-lymphedema syndrome|lymphedem-lymphangiectasia-intellectual disability syndrome|lymphangiectasies and lymphedema Hennekam type|Hennekam lymphangiectasia lymphedema syndrome|intestinal lymphagiectasia lymphedema intellectual deficit syndrome ordo_malformation_syndrome HGNC:14124 NPRL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/14124 MONDO:0016257 obsolete adenosarcoma of the corpus uteri biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016257 OBO:mondo#ABBREVIATION abbreviation biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016250 obsolete rare adenocarcinoma of the breast biolink:Disease mondo Orphanet:213528|GARD:0012773 Any of the forms of breast adenocarcinoma that have a rare incidence. ORPHA:213528 http://purl.obolibrary.org/obo/MONDO_0016250 rare breast adenocarcinoma obsoletion_candidate|gard_rare|ordo_disease ECTO:9001982 anti-inflammatory agent exposure biolink:OntologyClass mondo An exposure to anti-inflammatory agent. http://purl.obolibrary.org/obo/ECTO_9001982 exposure to anti-inflammatory agent MONDO:0016251 salivary gland type cancer of the breast biolink:Disease mondo ICD10:C50.6|ICD10:C50.8|ICD10:C50.3|ICD10:C50.5|ICD10:C50.2|ICD10:C50.4|SCTID:716593008|ICD10:C50.1|ICD10:C50.0|Orphanet:213557|GARD:0012774 Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma. SNOMEDCT:716593008|ORPHA:213557 http://purl.obolibrary.org/obo/MONDO_0016251 salivary gland type carcinoma of the breast ordo_disease|gard_rare MONDO:0016252 obsolete rare uterine cancer biolink:Disease mondo Orphanet:213564 Rare uterine cancer. ORPHA:213564 http://purl.obolibrary.org/obo/MONDO_0016252 rare uterine malignant tumor|rare malignant tumor of uterus|rare uterine cancer|rare cancer of uterus obsoletion_candidate|ordo_group_of_disorders HGNC:16783 CDC73 biolink:OntologyClass mondo http://identifiers.org/hgnc/16783 MONDO:0016253 obsolete rare cancer of corpus uteri biolink:Disease mondo Orphanet:213569 ORPHA:213569 http://purl.obolibrary.org/obo/MONDO_0016253 rare malignant tumor of corpus uteri obsoletion_candidate|ordo_group_of_disorders MONDO:0028226 autosomal recessive severe congenital neutropenia biolink:Disease mondo Orphanet:439849 ORPHA:439849 http://purl.obolibrary.org/obo/MONDO_0028226 ordo_group_of_disorders MONDO:0004258 female orgasmic disorder biolink:Disease mondo ICD9:302.73|ICD10:F52.31|SCTID:60103007|NCIT:C34958|DOID:7518 A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse. NCIT:C34958|SNOMEDCT:60103007|DOID:7518 http://purl.obolibrary.org/obo/MONDO_0004258 female orgasmic disorder|inhibited female orgasm MONDO:0004257 childhood central nervous system mixed germ cell tumor biolink:Disease mondo DOID:7516|UMLS:C1332956|NCIT:C27403 A mixed germ cell tumor that arises from the central nervous system and occurs during childhood. UMLS:C1332956|NCIT:C27403|DOID:7516 http://purl.obolibrary.org/obo/MONDO_0004257 pediatric mixed germ cell tumor of central nervous system|pediatric mixed germ cell tumor of central nervous system|childhood mixed germ cell tumor of central nervous system|mixed germ cell tumor of central nervous system of childhood|Central nervous system Mixed germ cell tumor MONDO:0004259 endocervical carcinoma biolink:Disease mondo NCIT:C28327|SCTID:372098004|UMLS:C1299237|DOID:7519 A carcinoma that arises from epithelial cells of the endocervix. NCIT:C28327|SNOMEDCT:372098004|UMLS:C1299237|DOID:7519 http://purl.obolibrary.org/obo/MONDO_0004259 carcinoma of endocervix|endocervix carcinoma|carcinoma of the endocervix|endocervical adenocarcinoma|endocervical cancer|endocervical carcinoma MONDO:0004254 focal intraductal papillomatosis biolink:Disease mondo NCIT:C7365|DOID:7512|UMLS:C1333626 NCIT:C7365|DOID:7512|UMLS:C1333626 http://purl.obolibrary.org/obo/MONDO_0004254 localized intraductal papillomatosis|focal intraductal papillomatosis MONDO:0004253 intraductal breast papillomatosis biolink:Disease mondo DOID:7511|NCIT:C5201|UMLS:C1334247 A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts. NCIT:C5201|UMLS:C1334247|DOID:7511 http://purl.obolibrary.org/obo/MONDO_0004253 intraductal papillomatosis of breast|breast intraductal papillomatosis|intraductal papillomatosis of the breast|intraductal breast papillomatosis MONDO:0004256 lumbar spinal canal and spinal cord meningioma biolink:Disease mondo UMLS:C1334436|DOID:7515|NCIT:C5298 A meningioma that arises from the meninges of the lumbar region of the spinal cord. NCIT:C5298|UMLS:C1334436|DOID:7515 http://purl.obolibrary.org/obo/MONDO_0004256 meningioma of the lumbar spinal canal and spinal cord|meningioma of lumbar spinal canal and spinal cord|lumbar intraspinal meningioma MONDO:0004255 Wolffian adnexal tumor biolink:Disease mondo MESH:C536741|GARD:0008680|DOID:7514|UMLS:C1520159|NCIT:C40141 A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass. MESH:C536741|UMLS:C1520159|DOID:7514|NCIT:C40141 http://purl.obolibrary.org/obo/MONDO_0004255 FATWO|Wolffian adenoma|WAT|Wolffian tumor|Wolffian adnexal neoplasm|female adnexal tumor of probable Wolffian origin|Wolffian adnexal tumor MONDO:0004250 extrahepatic bile duct papillary adenoma biolink:Disease mondo NCIT:C5849|DOID:7503|UMLS:C1333510 An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern. NCIT:C5849|DOID:7503|UMLS:C1333510 http://purl.obolibrary.org/obo/MONDO_0004250 extrahepatic bile duct papillary adenoma|papillary adenoma of the extrahepatic bile duct|papillary adenoma of extrahepatic bile duct MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor biolink:Disease mondo NCIT:C27452|UMLS:C3274143|DOID:7506 A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. NCIT:C27452|UMLS:C3274143|DOID:7506 http://purl.obolibrary.org/obo/MONDO_0004252 small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor|small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor|small intestinal L-cell glucagon-like peptide-producing NET|small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine MONDO:0004251 small intestine neoplasm biolink:Disease mondo UMLS:C0345832|NCIT:C4432|SCTID:126832004|DOID:7505 A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. NCIT:C4432|DOID:7505|UMLS:C0345832|SNOMEDCT:126832004 http://purl.obolibrary.org/obo/MONDO_0004251 neoplasm of the small intestine|tumor of the small bowel|tumor of small intestine|tumor of small bowel|small bowel neoplasm|tumor of the small intestine|neoplasm of small intestine|neoplasm of the small bowel|neoplasm of small bowel|small intestine tumor|small intestinal neoplasm|small bowel tumor|small intestine neoplasm|small intestine neoplasm (disease) MONDO:0016247 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016247 MONDO:0016248 familial ovarian cancer biolink:Disease mondo ICD10:C56|UMLS:CN201036|Orphanet:213517 An instance of ovarian cancer that is caused by an inherited modification of the individual's genome. ORPHA:213517|UMLS:CN201036 http://purl.obolibrary.org/obo/MONDO_0016248 hereditary ovarian cancer|familial ovarian malignant tumor ordo_group_of_disorders MONDO:0016249 hereditary site-specific ovarian cancer syndrome biolink:Disease mondo UMLS:CN201037|Orphanet:213524|ICD10:C56 Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients. ORPHA:213524|UMLS:CN201037 http://purl.obolibrary.org/obo/MONDO_0016249 ordo_disease MONDO:0016243 hemoglobin E disease biolink:Disease mondo SCTID:25065001|DOID:5379|GARD:0002641|UMLS:C0238159|Orphanet:2133|MedDRA:10053215|ICD9:282.7|NCIT:C35287|ICD10:D58.2 Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. SNOMEDCT:25065001|UMLS:C0238159|MEDDRA:10053215|ORPHA:2133|NCIT:C35287|DOID:5379 http://purl.obolibrary.org/obo/MONDO_0016243 Hb-E disease|hemoglobin E disease ordo_disease|gard_rare MONDO:0016244 atypical hemolytic-uremic syndrome biolink:Disease mondo UMLS:C2931788|Orphanet:2134|MESH:D065766|GARD:0008702|ICD10:D58.8|GARD:0006240|NCIT:C123223|DOID:0080301 Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. MESH:D065766|UMLS:C2931788|NCIT:C123223|ORPHA:2134|MESH:C538266|DOID:0080301 http://purl.obolibrary.org/obo/MONDO_0016244 atypical HUS|aHUS|D-HUS|atypical hemolytic uremic syndrome|hemolytic-uremic syndrome without diarrhea|non-diarrhea-associated hemolytic uremic syndrome|HUS, atypical|D-minus hemolytic uremic syndrome (D-HUS) ordo_disease|gard_rare HP:0005541 Congenital agranulocytosis biolink:PhenotypicFeature mondo SNOMEDCT_US:89655007|MSH:C537592|UMLS:C1853118 Congenital onset of a marked decrease in the number of granulocytes. http://purl.obolibrary.org/obo/HP_0005541 MONDO:0016245 obsolete ovarian cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016245 MONDO:0016246 obsolete adenocarcinoma of ovary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016246 MONDO:0016240 hemimelia biolink:Disease mondo ICD10:Q72.8|SCTID:33076008|ICD10:Q71.8|UMLS:C0018987|MedDRA:10019464|Orphanet:2130|NCIT:C34674|ICD10:Q73.8 Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity. SNOMEDCT:33076008|UMLS:C0018987|ORPHA:2130|MEDDRA:10019464|NCIT:C34674 http://purl.obolibrary.org/obo/MONDO_0016240 longitudinal meromelia ordo_group_of_disorders MONDO:0016241 alternating hemiplegia of childhood biolink:Disease mondo SCTID:230466004|NCIT:C35261|GARD:0000011|Orphanet:2131|OMIMPS:104290|UMLS:C0338488|MESH:C536589|ICD10:G98|DOID:0050635 Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment. DOID:0050635|MESH:C536589|UMLS:C0338488|SNOMEDCT:230466004|ORPHA:2131|NCIT:C35261 http://purl.obolibrary.org/obo/MONDO_0016241 congenital adrenal Hypoplasia|congenital adrenal gland hypoplasia|AHC|adrenal hypoplasia congenita|alternating hemiplegia of childhood|pediatric alternating hemiplegia|pediatric alternating hemiplegia|alternating hemiplegia syndrome|alternating hemiplegia|childhood alternating hemiplegia ordo_disease|gard_rare MONDO:0016242 hemoglobin C disease biolink:Disease mondo MedDRA:10018883|GARD:0002640|ICD10:D58.2|Orphanet:2132|UMLS:C0019021|DOID:2859|SCTID:51053007|ICD9:282.7|MESH:C531699|NCIT:C34675|MESH:D006445 Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia). NCIT:C34675|MEDDRA:10018883|UMLS:C0019021|MESH:D006445|DOID:2859|SNOMEDCT:51053007|MESH:C531699|ORPHA:2132 http://purl.obolibrary.org/obo/MONDO_0016242 Hb-C disease|Hb C disease ordo_disease|gard_rare MONDO:0004269 breast cystic hypersecretory carcinoma biolink:Disease mondo DOID:7537 DOID:7537 http://purl.obolibrary.org/obo/MONDO_0004269 cystic hypersecretory duct carcinoma of the breast|cystic hypersecretory carcinoma of the breast MONDO:0004268 subareolar duct papillomatosis biolink:Disease mondo DOID:7533 DOID:7533|NCIT:C9008 http://purl.obolibrary.org/obo/MONDO_0004268 subareolar duct papillomatosis MONDO:0004265 acute endometritis biolink:Disease mondo SCTID:67667007|ICD9:615.0|UMLS:C0238103|NCIT:C27022|DOID:7528 An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge. NCIT:C27022|SNOMEDCT:67667007|UMLS:C0238103|DOID:7528 http://purl.obolibrary.org/obo/MONDO_0004265 endometritis, acute HGNC:28741 ILDR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/28741 MONDO:0004264 acute gonococcal endometritis biolink:Disease mondo ICD9:098.16|UMLS:C0153196|COHD:200040|DOID:7527|UMLS:C0341829|SCTID:65295003 UMLS:C0341829|UMLS:C0153196|DOID:7527|SNOMEDCT:65295003 http://purl.obolibrary.org/obo/MONDO_0004264 uterus - acute gonorrhoea|gonococcal endometritis|gonococcal endometritis (acute)|acute gonorrhea of uterus MONDO:0004267 squamous papillomatosis biolink:Disease mondo DOID:7532|UMLS:C1378340|NCIT:C9009|ICDO:8060/0 A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site. UMLS:C1378340|DOID:7532|NCIT:C9009 http://purl.obolibrary.org/obo/MONDO_0004267 squamous papillomatosis MONDO:0004266 anal gland adenocarcinoma biolink:Disease mondo NCIT:C5609|DOID:7531|UMLS:C1266027|ICDO:8215/3|ONCOTREE:AGA An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes. NCIT:C5609|DOID:7531|UMLS:C1266027 http://purl.obolibrary.org/obo/MONDO_0004266 adenocarcinoma of anal ducts|adenocarcinoma of the anal gland|anal glands adenocarcinoma|adenocarcinoma of anal gland MONDO:0004261 periductal breast myoepitheliosis biolink:Disease mondo DOID:7520|UMLS:C1518974|NCIT:C40388 A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts. UMLS:C1518974|DOID:7520|NCIT:C40388 http://purl.obolibrary.org/obo/MONDO_0004261 periductal breast myoepitheliosis MONDO:0004260 peptic ulcer perforation biolink:Disease mondo MESH:D010439|DOID:752|UMLS:C0267291|EFO:1001389|UMLS:C0030925|SCTID:79118000 Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity. MESH:D010439|SNOMEDCT:79118000|UMLS:C0267291|DOID:752|UMLS:C0030925 http://purl.obolibrary.org/obo/MONDO_0004260 acute peptic ulcer with perforation|peptic ulcer with perforation|perforated peptic ulcer MONDO:0004263 pediatric infratentorial ependymoblastoma biolink:Disease mondo DOID:7522|UMLS:C1332972|NCIT:C6773 An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. NCIT:C6773|DOID:7522|UMLS:C1332972 http://purl.obolibrary.org/obo/MONDO_0004263 pediatric infratentorial ependymoblastoma|childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered|childhood infratentorial ependymoblastoma MONDO:0004262 breast myoepitheliosis biolink:Disease mondo UMLS:C1513799|NCIT:C40385|DOID:7521 A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts. NCIT:C40385|DOID:7521|UMLS:C1513799 http://purl.obolibrary.org/obo/MONDO_0004262 breast myoepitheliosis HP:0005558 Chronic leukemia biolink:PhenotypicFeature mondo SNOMEDCT_US:128933000|UMLS:C4280478|UMLS:C1279296|SNOMEDCT_US:92812005 A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. http://purl.obolibrary.org/obo/HP_0005558 Chronic leukaemia|Chronic blood cancer MONDO:0016236 kaposiform hemangioendothelioma biolink:Disease mondo MESH:C537007|NCIT:C27510|SCTID:403983000|UMLS:C1367420|Orphanet:2122|GARD:0003077|ICD10:D18.0 Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions. MESH:C537007|UMLS:C1367420|NCIT:C27510|ORPHA:2122|SNOMEDCT:403983000 http://purl.obolibrary.org/obo/MONDO_0016236 Kaposiform hemangio-endothelioma|KH|KHE|congenital cutaneous multifocal kaposiform hemangioendothelioma|Kaposiform hemangioendothelioma ordo_disease|gard_rare MONDO:0018899 posterior cortical atrophy biolink:Disease mondo Orphanet:54247|ICD10:G31.1|SCTID:715574002|UMLS:CN205270 Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. SNOMEDCT:715574002|ORPHA:54247|UMLS:CN205270 http://purl.obolibrary.org/obo/MONDO_0018899 biparietal Alzheimer disease|PCA|Benson syndrome ordo_disease MONDO:0018898 primary cutaneous lymphoma biolink:Disease mondo UMLS:C1302772|NCIT:C7162|Orphanet:542|SCTID:400001003|MedDRA:10051708 Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities. ORPHA:542|UMLS:C1302772|NCIT:C7162|UMLS:C1276146|MEDDRA:10051708|SNOMEDCT:400001003 http://purl.obolibrary.org/obo/MONDO_0018898 cutaneous (skin) lymphoma|primary cutaneous lymphoma|primary skin lymphoma ordo_group_of_disorders MONDO:0016237 diffuse neonatal hemangiomatosis biolink:Disease mondo SCTID:254782003|GARD:0001861|Orphanet:2123|ICD10:Q82.8|UMLS:C0474965 Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. SNOMEDCT:254782003|UMLS:C0474965|ORPHA:2123 http://purl.obolibrary.org/obo/MONDO_0016237 gard_rare|ordo_malformation_syndrome MONDO:0016238 solitary fibrous tumor biolink:Disease mondo ICDO:8815/1|UMLS:C1266119|MESH:D054364|ICDO:8815/0|ICDO:9051/0|ICD10:D21.9|Orphanet:2126|ONCOTREE:SFT|ICD9:238.1|MedDRA:10018825|NCIT:C7634 Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia). UMLS:C1266119|MESH:D054364|MEDDRA:10018825|NCIT:C7634|MESH:D006393|UMLS:C0018922|ORPHA:2126 http://purl.obolibrary.org/obo/MONDO_0016238 SFT|solitary fibrous tumor|submesothelial fibroma|localized fibrous tumor|localized fibrous mesothelioma|hemangiopericytoma|solitary fibrous tumor/hemangiopericytoma ordo_disease MONDO:0016239 cystinosis biolink:Disease mondo Orphanet:213|MESH:D003554|ICD10:E72.0|UMLS:C0010690|ICD10:E72.04|GARD:0006236|SCTID:190681003|DOID:1064|NCIT:C2976|MedDRA:10011777|UMLS:CN035091 Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. MEDDRA:10011777|ORPHA:213|NCIT:C2976|SNOMEDCT:190681003|DOID:1064|UMLS:C0010690|UMLS:CN035091|MESH:D003554 http://purl.obolibrary.org/obo/MONDO_0016239 cystine disease|cystine storage disease|cystine diathesis|Protein defect of cystin transport|Cystinoses gard_rare|ordo_disease MONDO:0018895 Plummer-Vinson syndrome biolink:Disease mondo SCTID:80126007|Orphanet:54028|UMLS:C0032249|ICD10:D50.1|GARD:0008259|MedDRA:10040664|MESH:D011004|NCIT:C85016|ICD9:280.8 Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. MESH:D011004|ORPHA:54028|NCIT:C85016|SNOMEDCT:80126007|UMLS:C0032249|MEDDRA:10040664 http://purl.obolibrary.org/obo/MONDO_0018895 Sideropenic dysphagia|Paterson-Brown-Kelly syndrome|Paterson's syndrome|Kelly-Paterson syndrome|Plummer Vinson syndrome|dysphagia sideropenica|Paterson-Kelly syndrome|Kelly's syndrome|Paterson’s syndrome gard_rare|ordo_disease MONDO:0016232 rare venous malformation biolink:Disease mondo ICD10:Q27.8|Orphanet:211252|MedDRA:10025532 UMLS:C0265950|ORPHA:211252|MEDDRA:10025532 http://purl.obolibrary.org/obo/MONDO_0016232 ordo_group_of_disorders|obsoletion_candidate HGNC:16762 ZNF423 biolink:OntologyClass mondo http://identifiers.org/hgnc/16762 MONDO:0016233 rare lymphatic system malformation biolink:Disease mondo Orphanet:211255|UMLS:CN200997 UMLS:CN200997|ORPHA:211255 http://purl.obolibrary.org/obo/MONDO_0016233 obsoletion_candidate|ordo_group_of_disorders MONDO:0018894 distal hereditary motor neuropathy biolink:Disease mondo GARD:0012683|SCTID:230247001|Orphanet:53739 ORPHA:53739|UMLS:C0393541|SNOMEDCT:230247001 http://purl.obolibrary.org/obo/MONDO_0018894 distal spinal muscular atrophy|dHMN|dSMA ordo_group_of_disorders|gard_rare MONDO:0016234 obsolete rare arteriovenous malformation biolink:Disease mondo Orphanet:211266|UMLS:CN226888 Rare arteriovenous malformation. UMLS:CN226888|ORPHA:211266 http://purl.obolibrary.org/obo/MONDO_0016234 rare arteriovenous hemangioma/malformation|rare arteriovenous malformation obsoletion_candidate|ordo_group_of_disorders MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease biolink:Disease mondo UMLS:CN205268|Orphanet:541|MedDRA:10065863|ICD10:C86.6 MEDDRA:10065863|ORPHA:541|UMLS:C1698767|UMLS:CN205268 http://purl.obolibrary.org/obo/MONDO_0018897 primary cutaneous Ki-1+ T-cell lymphoproliferative disease ordo_group_of_disorders MONDO:0018896 thrombotic thrombocytopenic purpura biolink:Disease mondo COHD:4301602|ICD10:M31.1|UMLS:C0034155|MedDRA:10043648|Orphanet:54057|DOID:10772|SCTID:78129009|NCIT:C78797|MESH:D011697 Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. ORPHA:54057|MESH:D011697|UMLS:C0034155|SNOMEDCT:78129009|MEDDRA:10043648|DOID:10772|NCIT:C78797 http://purl.obolibrary.org/obo/MONDO_0018896 Moschcowitz's syndrome|TTP|Moschcowitz disease|Moschowitz disease ordo_disease MONDO:0016235 complex vascular malformation with associated anomalies biolink:Disease mondo Orphanet:211277 ORPHA:211277 http://purl.obolibrary.org/obo/MONDO_0016235 hemangiolymphangioma ordo_group_of_disorders HGNC:14103 ARHGEF10 biolink:OntologyClass mondo http://identifiers.org/hgnc/14103 MONDO:0018891 familial tumoral calcinosis biolink:Disease mondo ICD10:M11.2|MedDRA:10059364|GARD:0010877|Orphanet:53715|DC:0000445 Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis. UMLS:C0263628|ORPHA:53715|MEDDRA:10059364 http://purl.obolibrary.org/obo/MONDO_0018891 ordo_disease|gard_rare MONDO:0018890 Lyell syndrome biolink:Disease mondo UMLS:CN205258|Orphanet:537|ICD10:L51.2 Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area. UMLS:CN205258|ORPHA:537 http://purl.obolibrary.org/obo/MONDO_0018890 ordo_clinical_subtype MONDO:0018893 Cobb syndrome biolink:Disease mondo NCIT:C4485|SCTID:254774003|Orphanet:53721|GARD:0011892|ICD9:239.2|UMLS:C0346068|MedDRA:10068841|ICD10:Q27.3 Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution. ORPHA:53721|NCIT:C4485|UMLS:C0346068|MEDDRA:10068841|SNOMEDCT:254774003 http://purl.obolibrary.org/obo/MONDO_0018893 spinal arteriovenous metameric syndrome|Cobb's syndrome|cutaneomeningospinal angiomatosis|SAMS 1-31 ordo_malformation_syndrome|gard_rare MONDO:0016230 simple vascular malformation biolink:Disease mondo Orphanet:211243 ORPHA:211243 http://purl.obolibrary.org/obo/MONDO_0016230 ordo_group_of_disorders MONDO:0018892 Wyburn-Mason syndrome biolink:Disease mondo MESH:C536752|MedDRA:10048661|SCTID:6729006|Orphanet:53719|UMLS:C0265321|ICD10:Q28.2|GARD:0007900 Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex. MESH:C536752|ORPHA:53719|SNOMEDCT:6729006|MEDDRA:10048661|UMLS:C0265321 http://purl.obolibrary.org/obo/MONDO_0018892 Wyburn Mason's syndrome|bonnet-Decaume-Blanc syndrome|Wyburn Mason syndrome|arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes|Cerebrofacial arteriovenous metameric syndrome type 2|CAMS2|bonnet-Dechaume-Blanc syndrome ordo_malformation_syndrome MONDO:0016231 capillary malformation biolink:Disease mondo Orphanet:211247|SCTID:234118009 ORPHA:211247|UMLS:C0340803|SNOMEDCT:234118009 http://purl.obolibrary.org/obo/MONDO_0016231 rare capillary malformation|congenital malformation of capillary ordo_group_of_disorders MONDO:0006815 jejunal cancer biolink:Disease mondo ICD10:C17.1|ICD9:152.1|SCTID:363404008|UMLS:C0153427|EFO:1000998|MedDRA:10023166|DOID:13499 A malignant neoplasm involving the jejunum. DOID:13499|SNOMEDCT:363404008|UMLS:C0153427 http://purl.obolibrary.org/obo/MONDO_0006815 malignant neoplasm of jejunum|malignant jejunum neoplasm|cancer of jejunum|malignant tumor of jejunum|jejunum cancer MONDO:0006816 arthropathy biolink:Disease mondo ICD9:716.90|ICD10:M12.9|MedDRA:10003285|ICD10:M15.M19|ICD9:716.80|MESH:D007592|DOID:381|ICD9:719.90|COHD:73553|ICD9:719.80|SCTID:399269003|NCIT:C35760|ICD10:M19.90|ICD9:719.9|ICD9:716.88|EFO:1000999|ICD10:M00-M02|ICD9:716.98|UMLS:C0022408|ICD9:719.89|ICD9:711|ICD9:716.9|ICD9:719.88|ICD10:M25.9|ICD9:719.98 Any disorder of the joints. DOID:381|NCIT:C35760|SNOMEDCT:399269003|MESH:D007592|UMLS:C0022408 http://purl.obolibrary.org/obo/MONDO_0006816 Joint ankylosis of the shoulder region|Joint ankylosis of the ankle and/or foot|skeletal joint disease|joint disorder|disorder, Joint|ankylosis of forearm joint|Joint disorder|ankylosis of ankle and foot joint|joint disease|Joint ankylosis of the ankle and foot|ankylosis of hand joint|ankylosis of multiple joints|ankylosis of lower leg joint|ankylosis of upper arm joint|Joint ankylosis of the hand|ankylosis of joint of forearm|Joint ankylosis of the forearm|arthropathy|ankylosis of joint of lower leg|Joint ankylosis of the lower leg|disorder of joint|Joint ankylosis of the upper arm|ankylosis of joint of upper arm|ankylosis of joint of pelvic region and thigh|infectious arthropathy|skeletal joint disease or disorder|disorder of skeletal joint|ankylosis of joint of ankle and/or foot|ankylosis of joint of shoulder region|ankylosis of joint of multiple sites|arthrosis|Joint ankylosis of the pelvic region and thigh|disease of skeletal joint|disorder of skeletal joint|disease or disorder of skeletal joint|ankylosis of joint of hand MONDO:0006813 intradermal nevus biolink:Disease mondo MedDRA:10058537|ICDO:8750/0|SCTID:302838006|NCIT:C3804|EFO:1000995|MESH:D018330|UMLS:C0206737 A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction. UMLS:C0206737|MESH:D018330|SNOMEDCT:302838006|NCIT:C3804 http://purl.obolibrary.org/obo/MONDO_0006813 dermal Nevus MONDO:0006814 iritis (disease) biolink:Disease mondo NCIT:C50621|MedDRA:10022955|SCTID:65074000|HP:0001101|EFO:1000997|MESH:D007500|UMLS:C0022081|DOID:1406 Inflammation of the iris. NCIT:C50621|MESH:D007500|UMLS:C0022081|DOID:1406|SNOMEDCT:65074000 http://purl.obolibrary.org/obo/MONDO_0006814 inflammation of iris|iris inflammation|iritis MONDO:0006811 intracranial hypotension biolink:Disease mondo MedDRA:10049977|SCTID:433691000124104|ICD9:349.89|UMLS:C0524812|DOID:4723|EFO:1000993|MESH:D019585 Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) DOID:4723|UMLS:C0524812|MESH:D019585|SNOMEDCT:433691000124104 http://purl.obolibrary.org/obo/MONDO_0006811 HGNC:1856 CENPE biolink:OntologyClass mondo http://identifiers.org/hgnc/1856 MONDO:0006812 intracranial vasospasm biolink:Disease mondo UMLS:C0751895|DOID:13100|MESH:D020301|EFO:1000994 Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain). DOID:13100|UMLS:C0751895|MESH:D020301 http://purl.obolibrary.org/obo/MONDO_0006812 HGNC:1857 CENPF biolink:OntologyClass mondo http://identifiers.org/hgnc/1857 MONDO:0006810 intracranial hypertension biolink:Disease mondo UMLS:C0151740|DOID:9428|MESH:D019586|MedDRA:10022764|EFO:1000992 A finding characterized by increased cerebrospinal fluid pressure within the skull. MESH:D019586|DOID:9428|NCIT:C84791|UMLS:C0151740 http://purl.obolibrary.org/obo/MONDO_0006810 raised intracranial pressure FOODON:03412702 obsolete: kid biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03412702 MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis biolink:Disease mondo UMLS:CN776887|Orphanet:480491 ORPHA:480491|UMLS:CN776887 http://purl.obolibrary.org/obo/MONDO_0018804 MYO5B deficiency ordo_clinical_subtype UBERON:0003693 retroperitoneal space biolink:AnatomicalEntity mondo Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. http://purl.obolibrary.org/obo/UBERON_0003693 retroperitoneum|spatium retroperitoneale MONDO:0018803 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018803 UBERON:0003690 fused sacrum biolink:AnatomicalEntity mondo A collection of sacral vertebrae in the sacral region that are fused and part of the bony pelvis. http://purl.obolibrary.org/obo/UBERON_0003690 sacrum [sacral vertebrae I-V]|sacral bone|os sacrum [vertebrae sacrales I - V]|sacrum|sacrum [sacral vertebrae I - V]|os sacrum MONDO:0018806 primary intrahepatic lithiasis biolink:Disease mondo Orphanet:480506 ORPHA:480506 http://purl.obolibrary.org/obo/MONDO_0018806 primary hepatolithiasis|PIHL ordo_disease MONDO:0018805 choledochal cyst biolink:Disease mondo SCTID:398197009|DOID:899|MESH:D015529|COHD:4134570|Orphanet:480501|ICD10:Q44.4|ICD9:751.69 Cystic dilatation of the hepatic duct or bile duct. NCIT:C2943|DOID:899|ORPHA:480501|SNOMEDCT:398197009|MESH:D015529 http://purl.obolibrary.org/obo/MONDO_0018805 congenital choledochal cyst|congenital cystic dilatation of the biliary tract ordo_morphological_anomaly UBERON:0003691 epidural space biolink:AnatomicalEntity mondo The outermost part of the spinal canal. It is the space within the canal (formed by the surrounding vertebrae) lying outside the dura mater. http://purl.obolibrary.org/obo/UBERON_0003691 spatium extradurale|cavum extradurale|spatium epidurale|cavum epidurale|epidural cavity|extradural space MONDO:0018800 Kallmann syndrome biolink:Disease mondo GARD:0010771|MESH:D017436|Orphanet:478|ICD9:253.4|DOID:3614|NCIT:C75479|SCTID:93559003|UMLS:C0162809|MedDRA:10053142|ICD10:E23.0 Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). UMLS:C0162809|ORPHA:478|NCIT:C75479|SNOMEDCT:93559003|DOID:3614|MESH:D017436|MEDDRA:10053142 http://purl.obolibrary.org/obo/MONDO_0018800 congenital hypogonadotropic hypogonadism with anosmia|Kallman's syndrome|familial hypogonadism with anosmia|hypogonadism with anosmia|Kallman syndrome|hypogonadotropic hypogonadism with anosmia|Olfacto-genital pathological sequence ordo_disease MONDO:0018802 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018802 MONDO:0018801 congenital bilateral absence of vas deferens biolink:Disease mondo OMIMPS:277180|SCTID:275416002|ICD10:Q55.4|GARD:0005461|MedDRA:10010670|Orphanet:48|ICD9:752.89 Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility. MEDDRA:10010670|SNOMEDCT:275416002|UMLS:C0403814|MESH:C535984|ORPHA:48 http://purl.obolibrary.org/obo/MONDO_0018801 congenital bilateral aplasia of vas deferens|congenital bilateral agenesis of vas deferens ordo_morphological_anomaly UBERON:0001037 strand of hair biolink:AnatomicalEntity mondo A filament, mostly protein, that grows from follicles found in the dermis[WP]. http://purl.obolibrary.org/obo/UBERON_0001037 quill|fur|coat hair|coat/ hair|whisker|setulae|vibrissa|microchaeta|hair HGNC:16732 MCEE biolink:OntologyClass mondo http://identifiers.org/hgnc/16732 MONDO:0006808 intracranial arterial disease biolink:Disease mondo EFO:1000990|UMLS:C0752138|MESH:D020765|DOID:13089 Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes. MESH:D020765|UMLS:C0752138|DOID:13089 http://purl.obolibrary.org/obo/MONDO_0006808 UBERON:0003696 metatarsophalangeal joint biolink:AnatomicalEntity mondo The metatarsophalangeal articulations are the joints between the metatarsal bones of the foot and the proximal bones of the toes . They are condyloid joints meaning an elliptical or rounded surface (of the metatarsal bones) come close to the shallow cavities (of the proximal phalanges). The ligaments are the plantar and two collateral. http://purl.obolibrary.org/obo/UBERON_0003696 metatarsalphalangeal joint|articulationes metatarsophalangeae|metatarsophalangeal articulation|metatarsal joint|metatarsal-phalangeal joint|metatarsophalangeal UBERON:0001033 gustatory system biolink:AnatomicalEntity mondo The sensory system for the sense of taste. http://purl.obolibrary.org/obo/UBERON_0001033 gustatory organ system|taste system UBERON:0003697 abdominal wall biolink:AnatomicalEntity mondo The tissues that surround the organs that are present within the abdominal cavity. The abdominal wall tissue is composed of layers of fat, parietal peritoneum, fascia, and muscles. http://purl.obolibrary.org/obo/UBERON_0003697 layers of the abdominal wall|paries abdominalis|wall of abdomen proper|wall of abdomen|abdominal wall proper|paries abdominalis UBERON:0001032 sensory system biolink:AnatomicalEntity mondo Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. http://purl.obolibrary.org/obo/UBERON_0001032 sensory subsystem|sense organ subsystem|sensory organ system|set of sense organs|organa sensuum|sense organs set|sense organs|sensory systems|organa sensuum MONDO:0006809 intracranial embolism biolink:Disease mondo ICD9:434.10|SCTID:75543006|COHD:375557|ICD9:434.1|EFO:1000991|DOID:4372|ICD10:I66|MESH:D020766 Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases. MESH:D020766|DOID:4372|SNOMEDCT:75543006 http://purl.obolibrary.org/obo/MONDO_0006809 cerebral embolism with cerebral infarction|cerebral embolism MONDO:0006806 intermediate uveitis (disease) biolink:Disease mondo MedDRA:10022557|SCTID:314429009|Orphanet:279914|ICD10:H30.2|NCIT:C35110|HP:0012124|MESH:D015867|UMLS:C0042166|DOID:12732|EFO:1000986 Inflammation of the pars plana. NCIT:C35110|MESH:D015867|UMLS:C0042166|SNOMEDCT:314429009|MEDDRA:10022557|ORPHA:279914|DOID:12732 http://purl.obolibrary.org/obo/MONDO_0006806 IU|chronic cyclitis|peripheral uveoretinitis|intermediate uveitis|pars planitis ordo_disease MONDO:0006807 intestinal perforation biolink:Disease mondo SCTID:56905009|ICD9:569.83|COHD:193242|NCIT:C39611|ICD9:777.6|UMLS:C0021845|ICD10:P78.0|MedDRA:10022694|EFO:1000987|MESH:D007416|DOID:2074 A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. SNOMEDCT:56905009|MESH:D007416|DOID:2074|NCIT:C39611|UMLS:C0021845 http://purl.obolibrary.org/obo/MONDO_0006807 bowel perforation|perforation of intestine UBERON:0003695 metacarpophalangeal joint biolink:AnatomicalEntity mondo The metacarpophalangeal joints (MCP) are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cavities on the proximal ends of the first phalanges, with the exception of that of the thumb, which presents more of the characters of a ginglymoid joint. Arthritis of the MCP is a distinguishing feature of Rheumatoid Arthritis, as opposed to the distal interphalangeal joint in osteoarthritis. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0003695 MP joint|metacarpal joint|articulationes metacarpophalangeae|carpometacarpophalangeal joint|metacarpal phalangeal joint|metacarpo-phalangeal joint MONDO:0006826 kwashiorkor biolink:Disease mondo UMLS:C0022806|MedDRA:10023504|ICD10:E40|COHD:432593|DOID:13579|EFO:1001009|ICD9:260|MESH:D007732|SCTID:58262005 A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed) DOID:13579|MESH:D007732|SNOMEDCT:58262005|UMLS:C0022806 http://purl.obolibrary.org/obo/MONDO_0006826 Kwashiokor|nutritional edema with dyspigmentation of skin and hair|nutritional oedema with dyspigmentation of skin and/or hair HGNC:28727 APOO biolink:OntologyClass mondo http://identifiers.org/hgnc/28727 MONDO:0006827 lateral medullary syndrome biolink:Disease mondo UMLS:C0043019|EFO:1001011|MedDRA:10024033|ICD9:437.1|ICD10:G46.3|MESH:D014854|NCIT:C84807|SCTID:78569004|DOID:3522|GARD:0009263 A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking. MESH:D014854|DOID:3522|SNOMEDCT:78569004|NCIT:C84807|UMLS:C0043019 http://purl.obolibrary.org/obo/MONDO_0006827 Lateral medullary syndrome|PICA syndrome|Wallenberg's syndrome|Posterior inferior cerebellar artery syndrome|Vertebral artery syndrome|Posterior inferior cerebellar artery syndrome|Wallenberg's syndrome|Wallenberg syndrome gard_rare GO:1901859 negative regulation of mitochondrial DNA metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process. http://purl.obolibrary.org/obo/GO_1901859 downregulation of mtDNA metabolism|downregulation of mtDNA metabolic process|downregulation of mitochondrial DNA metabolism|down regulation of mtDNA metabolism|inhibition of mtDNA metabolic process|down regulation of mitochondrial DNA metabolism|negative regulation of mtDNA metabolism|down-regulation of mitochondrial DNA metabolic process|down-regulation of mtDNA metabolism|negative regulation of mtDNA metabolic process|negative regulation of mitochondrial DNA metabolism|down-regulation of mtDNA metabolic process|down-regulation of mitochondrial DNA metabolism|down regulation of mitochondrial DNA metabolic process|inhibition of mtDNA metabolism|down regulation of mtDNA metabolic process|inhibition of mitochondrial DNA metabolic process|inhibition of mitochondrial DNA metabolism|downregulation of mitochondrial DNA metabolic process MONDO:0006824 Krebs 2 carcinoma biolink:Disease mondo MESH:D002287|EFO:1001007|UMLS:C0007128 Carcinoma having known association to krebs2 gene mutation UMLS:C0007128|MESH:D002287 http://purl.obolibrary.org/obo/MONDO_0006824 HGNC:1869 CETP biolink:OntologyClass mondo http://identifiers.org/hgnc/1869 MONDO:0006825 kuru biolink:Disease mondo SCTID:86188000|DOID:648|MedDRA:10023497|COHD:444373|EFO:1001008|ICD9:046.0|ICD10:A81.81|MESH:D007729|UMLS:C0022802|ICD10:A81.8|Orphanet:454745|GARD:0007617 A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) DOID:648|MESH:D007729|SNOMEDCT:86188000|UMLS:C0022802|ORPHA:454745 http://purl.obolibrary.org/obo/MONDO_0006825 kuru encephalopathy gard_rare|ordo_disease GO:1901857 positive regulation of cellular respiration biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cellular respiration. http://purl.obolibrary.org/obo/GO_1901857 up regulation of cellular respiration|up-regulation of oxidative metabolism|up regulation of oxidative metabolic process|up-regulation of respiration|activation of cellular respiration|up-regulation of cellular respiration|positive regulation of oxidative metabolic process|up regulation of respiration|positive regulation of respiration|activation of oxidative metabolism|upregulation of oxidative metabolism|upregulation of oxidative metabolic process|activation of oxidative metabolic process|upregulation of cellular respiration|upregulation of respiration|activation of respiration|positive regulation of oxidative metabolism|up regulation of oxidative metabolism|up-regulation of oxidative metabolic process UBERON:0001019 nerve fasciculus biolink:AnatomicalEntity mondo A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). http://purl.obolibrary.org/obo/UBERON_0001019 nerve fiber tract|fascicle|nerve fasciculus|neural fasciculus|fasciculus|nerve bundle MONDO:0006822 obsolete Klatskin's tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006822 MONDO:0006823 Klinefelter syndrome biolink:Disease mondo COHD:4228490|DOID:1921|ICD10:Q98.4|UMLS:C0022735|MedDRA:10023463|NCIT:C34752|ICD10:Q98.0|EFO:1001006|ICD9:758.7|SCTID:405769009 A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. NCIT:C34752|UMLS:C0022735|DOID:1921|SNOMEDCT:405769009 http://purl.obolibrary.org/obo/MONDO_0006823 hypogonadotropic hypogonadism|Klinefelter's syndrome, XXY|Klinefelter syndrome|47,XXY syndrome|XXY syndrome|XXY syndrome (Klinefelter syndrome)|XXY trisomy|Klinefelter's syndrome UBERON:0001018 axon tract biolink:AnatomicalEntity mondo A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. http://purl.obolibrary.org/obo/UBERON_0001018 nerve tract|tract of neuraxis|tract|neuraxis tract|nerve tract|axonal tract GO:1901858 regulation of mitochondrial DNA metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of mitochondrial DNA metabolic process. http://purl.obolibrary.org/obo/GO_1901858 regulation of mtDNA metabolism|regulation of mitochondrial DNA metabolism|regulation of mtDNA metabolic process MONDO:0006820 kidney cortex necrosis biolink:Disease mondo SCTID:444691002|ICD9:583.6|DOID:2973|COHD:40480627|MedDRA:10023414|MESH:D007673|EFO:1001003|ICD10:N17.1 Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. MESH:D007673|SNOMEDCT:444691002|DOID:2973 http://purl.obolibrary.org/obo/MONDO_0006820 renal cortical necrosis GO:1901856 negative regulation of cellular respiration biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cellular respiration. http://purl.obolibrary.org/obo/GO_1901856 downregulation of oxidative metabolism|downregulation of respiration|downregulation of cellular respiration|inhibition of oxidative metabolic process|down regulation of oxidative metabolism|inhibition of respiration|down regulation of cellular respiration|down-regulation of oxidative metabolism|down-regulation of oxidative metabolic process|negative regulation of oxidative metabolism|negative regulation of oxidative metabolic process|inhibition of cellular respiration|down-regulation of cellular respiration|down-regulation of respiration|negative regulation of respiration|down regulation of oxidative metabolic process|inhibition of oxidative metabolism|down regulation of respiration|downregulation of oxidative metabolic process MONDO:0006821 kidney papillary necrosis biolink:Disease mondo MedDRA:10028865|UMLS:C0022667|ICD9:583.7|DOID:2981|COHD:444409|SCTID:90241004|MESH:D007681|EFO:1001004 A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. MESH:D007681|SNOMEDCT:90241004|UMLS:C0022667|DOID:2981 http://purl.obolibrary.org/obo/MONDO_0006821 renal papillitis necrotizing|papillary necrosis|necrotizing renal papillitis CHEBI:22478 amino alcohol biolink:ChemicalSubstance mondo An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group. http://purl.obolibrary.org/obo/CHEBI_22478 aminoalcohols|aminoalcohol|amino alcohols HGNC:28722 COQ5 biolink:OntologyClass mondo http://identifiers.org/hgnc/28722 UBERON:0003682 palatal muscle biolink:AnatomicalEntity mondo The muscles of the palate are the glossopalatine, palatoglossus, levator palati(ni), musculus uvulae, palatopharyngeus, and tensor palati(ni). http://purl.obolibrary.org/obo/UBERON_0003682 musculi palati mollis et faucium|palate muscle|palatal muscle|musculi palati mollis et faucium|muscle of palate|palatine muscle UBERON:0001020 nervous system commissure biolink:AnatomicalEntity mondo Axon tract that crosses the midline of the central nervous system[NIF, modified]. In the context of Drosophila refers to a broad band of axons connecting equivalent neuropils each side of the brain[FBbt]. http://purl.obolibrary.org/obo/UBERON_0001020 white matter commissure|commissure of neuraxis|neuraxis commissure|commissure GO:0060986 endocrine hormone secretion biolink:OntologyClass mondo The regulated release of a hormone into the circulatory system. http://purl.obolibrary.org/obo/GO_0060986 UBERON:0003689 sella turcica biolink:AnatomicalEntity mondo The sella turcica is a saddle-shaped depression in the sphenoid bone at the base of the human skull. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0003689 Turkey Chair|turkish saddle|suprasellar HGNC:1875 CFL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1875 UBERON:0001028 diaphysis of radius biolink:AnatomicalEntity mondo A diaphysis that is part of a radius bone[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001028 shaft of radius|body of radius|corpus radii|radial diaphysis|shaft of radius|radial shaft UBERON:0003687 foramen magnum biolink:AnatomicalEntity mondo In anatomy, in the occipital bone, the foramen magnum is one of the several oval or circular apertures in the base of the skull, through which the medulla oblongata (an extension of the spinal cord) enters and exits the skull vault. Apart from the transmission of the medulla oblongata and its membranes, the foramen magnum transmits the Spinal Accessory nerve, vertebral arteries, the anterior and posterior spinal arteries, the membrana tectoria and alar ligaments. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0003687 UBERON:0001027 sensory nerve biolink:AnatomicalEntity mondo A nerve that transmits from sensory receptors on the surface of the body to the central nervous system. http://purl.obolibrary.org/obo/UBERON_0001027 afferent nerve|nervus sensorius UBERON:0003688 omentum biolink:AnatomicalEntity mondo A fold of peritoneum originating at the stomach and supporting the viscera. http://purl.obolibrary.org/obo/UBERON_0003688 MONDO:0006819 kernicterus biolink:Disease mondo EFO:1001002|MESH:D007647|MedDRA:10023376|ICD10:P57.9|DOID:2382|ICD10:P57|NCIT:C84799 A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin. MESH:D007647|DOID:2382|NCIT:C84799 http://purl.obolibrary.org/obo/MONDO_0006819 bilirubin encephalopathy UBERON:0003685 cranial suture biolink:AnatomicalEntity mondo Fibrous joint in which the articulating bones or cartilages of the skull are connected by sutural ligaments (scant amount of collagenous dense connective tissue). Examples: sagittal suture, frontal suture. http://purl.obolibrary.org/obo/UBERON_0003685 suture|sutura|suture of cranium|suture joint of skull|cranium suture UBERON:0001021 nerve biolink:AnatomicalEntity mondo An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. http://purl.obolibrary.org/obo/UBERON_0001021 nerves|neural subtree|peripheral nerve MONDO:0006817 juxtacortical osteosarcoma biolink:Disease mondo ONCOTREE:PAOS|ICDO:9192/3|EFO:1001000|DOID:3373|MESH:D018217|NCIT:C8969|UMLS:C0206642 A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent. UMLS:C0206642|DOID:3373|NCIT:C8969|MESH:D018217 http://purl.obolibrary.org/obo/MONDO_0006817 juxtacortical osteosarcoma|parosteal osteogenic sarcoma|PAOS|juxtacortical osteogenic sarcoma|parosteal osteosarcoma MONDO:0006818 obsolete keratoconjunctivitis sicca biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006818 UBERON:0003684 abdominal cavity biolink:AnatomicalEntity mondo The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). http://purl.obolibrary.org/obo/UBERON_0003684 cavity of compartment of abdomen|cavity of abdominal compartment|space of abdominal compartment|cavitas abdominis UBERON:0001008 renal system biolink:AnatomicalEntity mondo The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products.. http://purl.obolibrary.org/obo/UBERON_0001008 systema urinarium|renal/urinary system|excretory system|urinary tract|systema urinaria|renal system|urinary system|renal or urinary system UBERON:0001007 digestive system biolink:AnatomicalEntity mondo Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. http://purl.obolibrary.org/obo/UBERON_0001007 gut|alimentary system|gastrointestinal system|alimentary tract UBERON:0001009 circulatory system biolink:AnatomicalEntity mondo organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. http://purl.obolibrary.org/obo/UBERON_0001009 systema cardiovasculare GO:1901862 negative regulation of muscle tissue development biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development. http://purl.obolibrary.org/obo/GO_1901862 downregulation of muscle tissue development|down-regulation of muscle tissue development|down regulation of muscle tissue development|inhibition of muscle tissue development GO:1901863 positive regulation of muscle tissue development biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of muscle tissue development. http://purl.obolibrary.org/obo/GO_1901863 up-regulation of muscle tissue development|up regulation of muscle tissue development|activation of muscle tissue development|upregulation of muscle tissue development GO:1901860 positive regulation of mitochondrial DNA metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of mitochondrial DNA metabolic process. http://purl.obolibrary.org/obo/GO_1901860 positive regulation of mtDNA metabolic process|activation of mtDNA metabolism|upregulation of mtDNA metabolism|upregulation of mitochondrial DNA metabolic process|activation of mitochondrial DNA metabolism|upregulation of mtDNA metabolic process|upregulation of mitochondrial DNA metabolism|activation of mtDNA metabolic process|positive regulation of mtDNA metabolism|up regulation of mtDNA metabolism|positive regulation of mitochondrial DNA metabolism|up-regulation of mitochondrial DNA metabolic process|up regulation of mitochondrial DNA metabolism|up-regulation of mtDNA metabolism|up-regulation of mtDNA metabolic process|up regulation of mitochondrial DNA metabolic process|activation of mitochondrial DNA metabolic process|up-regulation of mitochondrial DNA metabolism|up regulation of mtDNA metabolic process GO:1901861 regulation of muscle tissue development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of muscle tissue development. http://purl.obolibrary.org/obo/GO_1901861 NCBITaxon:2726946 Cladosporiales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2726946 CHEBI:2679 amphetamine biolink:ChemicalSubstance mondo A racemate comprising equimolar amounts of (R)-amphetamine (also known as levamphetamine or levoamphetamine) and (S)-amphetamine (also known as dexamfetamine or dextroamphetamine. http://purl.obolibrary.org/obo/CHEBI_2679 1-Phenylpropan-2-amin|anfetamina|rac-amphetamine|desoxynorephedrine|amfetamina|Amphetamine|amphetamine|beta-aminopropylbenzene|alpha-methylbenzeneethaneamine|Amphetamin|rac-(2R)-1-phenylpropan-2-amine|amfetaminum|1-phenyl-2-aminopropane|amphetaminium|Benzedrine|Amfetamine|amfetamine|beta-Phenylisopropylamin|beta-phenylisopropylamine|alpha-methylphenylethylamine UBERON:0001015 musculature biolink:AnatomicalEntity mondo A subdivision of the muscular system corresponding to a subdisivision of an organism. http://purl.obolibrary.org/obo/UBERON_0001015 muscle group|muscles|musculi|muscle system|set of muscles|set of skeletal muscles|musculature|musculature system|muscles set UBERON:0003679 mouth floor biolink:AnatomicalEntity mondo The ventral area of the mouth. In organisms with a tongue, this is the area under the ventral surface of the tongue[ncit, modified]. http://purl.obolibrary.org/obo/UBERON_0003679 floor of mouth|floor of the oval cavity|sublingual region|floor of oval cavity UBERON:0001017 central nervous system biolink:AnatomicalEntity mondo The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. http://purl.obolibrary.org/obo/UBERON_0001017 neuraxis|cerebrospinal axis|systema nervosum centrale|CNS UBERON:0001016 nervous system biolink:AnatomicalEntity mondo The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. http://purl.obolibrary.org/obo/UBERON_0001016 neurological system|systema nervosum|nerve net HGNC:1884 CFTR biolink:OntologyClass mondo http://identifiers.org/hgnc/1884 UBERON:0001010 diaphysis of ulna biolink:AnatomicalEntity mondo The body of the ulna at its upper part is prismatic in form, and curved so as to be convex behind and lateralward; its central part is straight; its lower part is rounded, smooth, and bent a little lateralward. It tapers gradually from above downward, and has three borders and three surfaces. http://purl.obolibrary.org/obo/UBERON_0001010 ulnar diaphysis|shaft of ulna|supinator crest|shaft of ulna|body of ulna|corpus ulnae UBERON:0001013 adipose tissue biolink:AnatomicalEntity mondo Portion of connective tissue composed of adipocytes enmeshed in areolar tissue http://purl.obolibrary.org/obo/UBERON_0001013 adipose|bodyfat|fatty depot|fat tissue|fat|fatty tissue UBERON:0003672 dentition biolink:AnatomicalEntity mondo A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. http://purl.obolibrary.org/obo/UBERON_0003672 set of teeth|collection of teeth|teeth set|teeth|dentes|teeth GO:0070330 aromatase activity biolink:OntologyClass mondo Catalysis of the reduction of an aliphatic ring to yield an aromatic ring. http://purl.obolibrary.org/obo/GO_0070330 estrogen synthetase activity MONDO:0006804 inflammatory breast carcinoma biolink:Disease mondo EFO:1000984|ONCOTREE:IBC|DOID:6263|ICDO:8530/3|MedDRA:10006205|MESH:D058922|UMLS:C0278601|SCTID:254840009|NCIT:C4001|GARD:0006784 An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma. UMLS:C0278601|NCIT:C4001|MESH:D058922|SNOMEDCT:254840009|DOID:6263 http://purl.obolibrary.org/obo/MONDO_0006804 mastitis carcinomatosa|breast cancer, inflammatory|mastitis Carcinomatosa|inflammatory carcinoma of breast|inflammatory carcinoma of the breast|inflammatory breast cancer|inflammatory breast carcinoma|IBC MONDO:0006805 intermediate coronary syndrome biolink:Disease mondo MESH:D000789|UMLS:C0002965|DOID:8805|MedDRA:10022554|ICD9:411.1|ICD10:I20.0|EFO:1000985 Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest. NCIT:C66911|UMLS:C0002965|MESH:D000789|DOID:8805 http://purl.obolibrary.org/obo/MONDO_0006805 Preinfarction angina|angina at rest|worsening angina|unstable angina|impending infarction|anginal chest pain at rest MONDO:0006802 inappropriate ADH syndrome biolink:Disease mondo UMLS:C0021141|EFO:1000982|NCIT:C3988|MedDRA:10042818|SCTID:55004003|DOID:3401|ICD9:253.6|ICD10:E22.2|MESH:D007177 A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. MESH:D007177|DOID:3401|SNOMEDCT:55004003|UMLS:C0021141|NCIT:C3988 http://purl.obolibrary.org/obo/MONDO_0006802 syndrome of inappropriate antidiuretic hormone secretion|ectopic ADH secretion|inappropriate antidiuretic hormone secretion syndrome|inappropriate Arginine vasopressin secretion|ectopic antidiuretic hormone secretion|syndrome of inappropriate secretion of ADH|syndrome of inappropriate antidiuretic hormone|SIADH|syndrome of inappropriate secretion of antidiuretic hormone|syndrome of inappropriate vasopressin secretion|inappropriate ADH secretion MONDO:0006803 inferior myocardial infarction biolink:Disease mondo EFO:1000983|MedDRA:10057546|UMLS:C0340305|MESH:D056989|DOID:5850 Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. MESH:D056989|DOID:5850|UMLS:C0340305 http://purl.obolibrary.org/obo/MONDO_0006803 MONDO:0006800 ideomotor apraxia biolink:Disease mondo MESH:D020240|ICD9:315.8|EFO:1000980|DOID:4627|SCTID:229706001|MedDRA:10021216 A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57) SNOMEDCT:229706001|DOID:4627|MESH:D020240 http://purl.obolibrary.org/obo/MONDO_0006800 classic apraxia (finding) [ambiguous]|limb-kinetic apraxia (finding)|transcortical apraxia (finding)|classic apraxia|limb-kinetic apraxia|ideomotor dyspraxia|transcortical apraxia MONDO:0006801 ileal neoplasm biolink:Disease mondo EFO:1000981|DOID:10156|UMLS:C0020876|NCIT:C3130|SCTID:126835002|MESH:D007078 A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma. MESH:D007078|DOID:10156|NCIT:C3130|SNOMEDCT:126835002|UMLS:C0020876 http://purl.obolibrary.org/obo/MONDO_0006801 ileal tumor|tumor of the ileum|neoplasm of ileum|ileum neoplasm|ileum tumor|tumor of ileum|neoplasm of the ileum|ileum neoplasm (disease) UBERON:0003658 hip muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a hip [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003658 muscle organ of hip|hip muscle organ|muscle organ of hip region|muscle organ of regio coxae|hip region muscle organ|regio coxae muscle organ UBERON:0003659 pedal digit muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a toe [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003659 foot digit muscle organ|muscle organ of foot digit|foot digit muscle|muscle organ of digit of terminal segment of free lower limb|muscle organ of terminal segment of free lower limb digit|muscle organ of toe|digitus pedis muscle organ|digit of foot muscle organ|foot digit muscle|digit of terminal segment of free lower limb muscle organ|muscle organ of digit of foot|hind limb digit muscle|muscle organ of digitus pedis|toe muscle organ|terminal segment of free lower limb digit muscle organ UBERON:2001457 postcranial axial cartilage biolink:AnatomicalEntity mondo Cartilage which is part of the axial skeleton. http://purl.obolibrary.org/obo/UBERON_2001457 UBERON:0003660 eyelid muscle biolink:AnatomicalEntity mondo A muscle that attaches to an eyelid. http://purl.obolibrary.org/obo/UBERON_0003660 muscle organ of eyelid|blepharon muscle organ|eyelid muscle organ|muscle organ of blepharon HGNC:16725 LRRC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/16725 NCBITaxon:69474 Orientia organism taxon mondo GC_ID:11|PMID:8590688 http://purl.obolibrary.org/obo/NCBITaxon_69474 GO:0070327 thyroid hormone transport biolink:OntologyClass mondo The directed movement of thyroid hormone into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0070327 thyroxine transport|triiodothyronine transport UBERON:0001004 respiratory system biolink:AnatomicalEntity mondo Functional system which consists of structures involved in respiration. http://purl.obolibrary.org/obo/UBERON_0001004 systema respiratorium|apparatus respiratorius|Atmungssystem|apparatus respiratorius|respiratory system UBERON:0001003 skin epidermis biolink:AnatomicalEntity mondo The outer epithelial layer of the skin that is superficial to the dermis. http://purl.obolibrary.org/obo/UBERON_0001003 skin|vertebrate epidermis|epidermis UBERON:0003668 synovial bursa biolink:AnatomicalEntity mondo A small fluid-filled sac lined by synovial membrane with an inner capillary layer of slimy fluid. It provides a cushion between bones and tendons and/or muscles around a joint. This helps to reduce friction between the bones and allows free movement. Bursae are filled with synovial fluid and are found around most major joints of the body. http://purl.obolibrary.org/obo/UBERON_0003668 bursa|bursa synovialis UBERON:0003665 post-anal tail muscle biolink:AnatomicalEntity mondo A muscle organ that attaches to a tail vertebra [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003665 tail muscle organ|tail muscle|post-vent region muscle organ|muscle organ of post-vent region|muscle organ of tail|caudal muscle UBERON:0001005 respiratory airway biolink:AnatomicalEntity mondo An airway through which respiratory air passes in organisms. http://purl.obolibrary.org/obo/UBERON_0001005 airways|airway GO:0070324 thyroid hormone binding biolink:OntologyClass mondo Interacting selectively and non-covalently with thyroxine (T4) or triiodothyronine (T3), tyrosine-based hormones produced by the thyroid gland. http://purl.obolibrary.org/obo/GO_0070324 thyroxine binding|triiodothyronine binding UBERON:0001000 vas deferens biolink:AnatomicalEntity mondo A secretory duct that transports sperm from the testis. In mammals this is a continuation of the epididymis and ends in the prostatic urethra where it terminates to form ejaculatory duct http://purl.obolibrary.org/obo/UBERON_0001000 vas deferen|sperm duct|deferent duct|ductus deferens|vasa deferentia UBERON:0003663 hindlimb muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003663 muscle organ of inferior member|muscle organ of hind limb|muscle of posterior limb|free lower limb muscle|lower extremity muscle organ|muscle organ of lower extremity|muscle of free lower limb|lower limb skeletal muscle|hindlimb muscle organ|hind limb muscle organ|inferior member muscle organ|muscle organ of hindlimb UBERON:0003664 manual digit muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003664 muscle organ of digit of terminal segment of free upper limb|digitus manus muscle organ|muscle organ of terminal segment of free upper limb digit|fore limb digit muscle|digit of hand muscle organ|digit of terminal segment of free upper limb muscle organ|hand digit muscle|muscle organ of digit of hand|terminal segment of free upper limb digit muscle organ|finger muscle organ|muscle organ of digitus manus|muscle organ of hand digit|hand digit muscle organ|hand digit muscle|muscle organ of finger UBERON:0003661 limb muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003661 limb muscle organ|muscle organ of limb|limb skeletal muscle UBERON:0003662 forelimb muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a forelimb. http://purl.obolibrary.org/obo/UBERON_0003662 free upper limb muscle|fore limb muscle organ|wing muscle|musculature of the arm|muscle of free upper limb|muscle of upper limb|musculature of arm|upper limb skeletal muscle|arm muscle system|forelimb muscle organ MONDO:0006859 mucinous cystadenoma biolink:Disease mondo MESH:D018291|NCIT:C2973|EFO:1001048|ICDO:8470/0|ICDO:8480/0|UMLS:C0010635 A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. MESH:D018291|UMLS:C0010635|NCIT:C2973 http://purl.obolibrary.org/obo/MONDO_0006859 mucinous adenoma|adenoma, mucinous, benign|mucinous cystadenoma|pseudomucinous cystadenoma|mucinous cystoma MONDO:0006857 middle cerebral artery infarction biolink:Disease mondo DOID:3525|MESH:D020244|UMLS:C0740392|EFO:1001045 Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction. MESH:D020244|UMLS:C0740392|DOID:3525 http://purl.obolibrary.org/obo/MONDO_0006857 MONDO:0006858 mouth disease biolink:Disease mondo SCTID:118938008|UMLS:C0026636|ICD9:528.9|MESH:D009059|DOID:403|NCIT:C3240|EFO:1001047 A disease involving the mouth. SNOMEDCT:118938008|NCIT:C3240|MESH:D009059|DOID:403|UMLS:C0026636 http://purl.obolibrary.org/obo/MONDO_0006858 disorder of mouth|oral disease|mouth disease|disorder of mouth|disease or disorder of mouth|disease of mouth|oral disorder|mouth disease or disorder MONDO:0006855 mesenteric vascular occlusion biolink:Disease mondo UMLS:C0025472|DOID:13252|MedDRA:10074583|MESH:D008641|EFO:1001043 Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6) UMLS:C0025472|DOID:13252|MESH:D008641 http://purl.obolibrary.org/obo/MONDO_0006855 MONDO:0006856 mesothelial neoplasm biolink:Disease mondo NCIT:C3786|MESH:D018301|EFO:1001044|UMLS:C3714739 A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003 MESH:D018301|NCIT:C3786|UMLS:C3714739 http://purl.obolibrary.org/obo/MONDO_0006856 mesothelial tumor|mesothelial neoplasm MONDO:0006853 mesenchymal chondrosarcoma biolink:Disease mondo UMLS:C0206637|MedDRA:10027389|DOID:4545|ICDO:9240/3|MESH:D018211|NCIT:C3737|ONCOTREE:MCHS|EFO:1001041 A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. NCIT:C3737|DOID:4545|UMLS:C0206637|MESH:D018211 http://purl.obolibrary.org/obo/MONDO_0006853 mesenchymal chondrosarcoma MONDO:0006854 mesenchymoma biolink:Disease mondo ICDO:8990/1|DOID:2668|UMLS:C0025464|MESH:D008637|NCIT:C3233|EFO:1001042 A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. NCIT:C3233|UMLS:C0025464|MESH:D008637|DOID:2668 http://purl.obolibrary.org/obo/MONDO_0006854 mesenchymoma MONDO:0006851 meconium aspiration syndrome biolink:Disease mondo MedDRA:10027057|UMLS:C0025048|COHD:437374|Orphanet:70588|DOID:11049|ICD9:770.1|MESH:D008471|EFO:1001037|GARD:0010494|ICD10:P24.0|ICD10:P24.01|ICD10:P24.00|SCTID:206292002|NCIT:C87093 A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. SNOMEDCT:206292002|UMLS:C0025048|NCIT:C87093|MESH:D008471|DOID:11049|ORPHA:70588 http://purl.obolibrary.org/obo/MONDO_0006851 aspiration, meconium|meconium aspiration|neonatal aspiration of meconium|syndrome, meconium aspiration|meconium inhalation|aspiration syndrome, meconium|MAS|meconium aspiration syndrome ordo_disease MONDO:0006852 obsolete meningococcal meningitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006852 MONDO:0006850 maxillary sinus neoplasm biolink:Disease mondo MedDRA:10026130|DOID:1358|MESH:D008444|EFO:1001035|SCTID:126676009|NCIT:C3219|UMLS:C0024958 A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. NCIT:C3219|SNOMEDCT:126676009|MESH:D008444|UMLS:C0024958|DOID:1358 http://purl.obolibrary.org/obo/MONDO_0006850 tumor of maxillofacial sinus|maxillary sinus neoplasm (disease)|tumor of the maxillofacial sinus|neoplasm of maxillary sinus|tumor of the maxillary sinus|maxillary sinus tumor|neoplasm of maxillary antrum|neoplasm of the maxillary antrum|maxillary antrum tumor|maxillary sinus neoplasm|neoplasm of the maxillofacial sinus|neoplasm of maxillofacial sinus|maxillofacial sinus tumor|maxillofacial sinus neoplasm|tumor of maxillary sinus|neoplasm of the maxillary sinus|tumor of maxillary antrum|maxillary antrum neoplasm|tumor of the maxillary antrum MONDO:0018848 IgG4-related retroperitoneal fibrosis biolink:Disease mondo MedDRA:10038979|SCTID:197808006|NCIT:C26876|ICD9:593.4|MESH:D012185|Orphanet:49041|GARD:0009568|ICD10:N13.5 Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle. SNOMEDCT:197808006|UMLS:C0035357|NCIT:C26876|MEDDRA:10038979|MESH:D012185|ORPHA:49041 http://purl.obolibrary.org/obo/MONDO_0018848 retroperitoneal fibrosis|idiopathic retroperitoneal fibrosis|Ormond disease|Ormond's disease ordo_disease UBERON:0001073 ileocecal junction biolink:AnatomicalEntity mondo A point along the course of the gastrointestinal tract where the small intestine (ileum) ends as it opens into the cecal portion of the large intestine; occurs usually within the iliac fossa, demarcated internally as the ileocecal orifice http://purl.obolibrary.org/obo/UBERON_0001073 ileocaecal junction UBERON:0001072 posterior vena cava biolink:AnatomicalEntity mondo A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/UBERON_0001072 posterior vena cava|inferior vena cava|postcava|inferior caval vein|vena cava inferior|caudal vena cava MONDO:0018847 omphalomesenteric cyst biolink:Disease mondo ICD10:Q43.0|Orphanet:490|GARD:0004081|SCTID:80880002 SNOMEDCT:80880002|ORPHA:490 http://purl.obolibrary.org/obo/MONDO_0018847 ordo_morphological_anomaly|gard_rare UBERON:0001075 bony vertebral centrum biolink:AnatomicalEntity mondo Ossified form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified]. http://purl.obolibrary.org/obo/UBERON_0001075 body of vertebra|corpus vertebra|vertebral centra|centra|vertebral body|holocentrum|vertebral centrum|corpus vertebrae|corpus vertebrae (vertebrale)|arcocentrum|autocentrum MONDO:0018849 dentinogenesis imperfecta (disease) biolink:Disease mondo UMLS:C0011436|NCIT:C84667|ICD9:520.5|DOID:4154|MESH:D003811|MedDRA:10054013|SCTID:196286005|HP:0000703|ICD10:K00.5|Orphanet:49042|GARD:0006258 Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development. SNOMEDCT:196286005|NCIT:C84667|MEDDRA:10054013|MESH:D003811|DOID:4154|ORPHA:49042|UMLS:C0011436 http://purl.obolibrary.org/obo/MONDO_0018849 opalescent teeth without osteogenesis imperfecta|DGI without OI|DGI|DI|opalescent teeth without OI|dentinogenesis imperfecta|dentinogenesis imperfecta without osteogenesis imperfecta|non-syndromic DGI|non-syndromic dentinogenesis imperfecta ordo_disease UBERON:0001074 pericardial cavity biolink:AnatomicalEntity mondo A potential space between the visceral and parietal layers of the pericardium. http://purl.obolibrary.org/obo/UBERON_0001074 cavity of pericardial sac|pericardial space|cavitas pericardiaca MONDO:0018844 urachal cyst (disease) biolink:Disease mondo SCTID:17234001|ICD10:Q64.4|HP:0012618|MESH:D014496|MedDRA:10065375|GARD:0005425|Orphanet:488 Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. MESH:D014496|MEDDRA:10065375|SNOMEDCT:17234001|ORPHA:488|UMLS:C0041915 http://purl.obolibrary.org/obo/MONDO_0018844 urachal cyst ordo_morphological_anomaly MONDO:0018843 embryonal carcinoma of the central nervous system biolink:Disease mondo ONCOTREE:BEC|DOID:7232|NCIT:C7010|ICD10:C71.9|Orphanet:48736|UMLS:C1333377 A embryonal carcinoma that involves the central nervous system. ORPHA:48736|DOID:7232|UMLS:C1333377|NCIT:C7010 http://purl.obolibrary.org/obo/MONDO_0018843 embryonal carcinoma|embryonal carcinoma of the CNS|embryonal carcinoma of the central nervous system|central nervous system embryonal carcinoma|embryonal carcinoma of CNS ordo_clinical_subtype MONDO:0018846 penile agenesis biolink:Disease mondo NCIT:C99009|MESH:C536649|ICD10:Q55.5|SCTID:59981001|GARD:0004272|Orphanet:49 An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. ORPHA:49|UMLS:C1387005|SNOMEDCT:59981001|MESH:C536649|NCIT:C99009 http://purl.obolibrary.org/obo/MONDO_0018846 congenital absence of penis|Aphallia|Aphallus|agenesis of the penis|penis agenesia|micropenis|penis agenesis ordo_morphological_anomaly UBERON:0001071 superficial cervical artery biolink:AnatomicalEntity mondo It ascends beneath the anterior margin of the trapezius, distributing branches to it, and to the neighboring muscles and lymph glands in the neck, and anastomosing with the superficial branch of the descending branch of the occipital artery. http://purl.obolibrary.org/obo/UBERON_0001071 superficial branch of transverse cervical artery MONDO:0018845 focal myositis biolink:Disease mondo Orphanet:48918|ICD9:729.1|ICD10:M60.8|SCTID:240119009 Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities. SNOMEDCT:240119009|ORPHA:48918|UMLS:C0751357 http://purl.obolibrary.org/obo/MONDO_0018845 inflammatory pseudotumor of skeletal muscle|focal nodular myositis ordo_disease UBERON:0001070 external carotid artery biolink:AnatomicalEntity mondo A terminal branch of the left or right common carotid artery which supplies oxygenated blood to to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges[MP] http://purl.obolibrary.org/obo/UBERON_0001070 external carotid|arteria carotis externa MONDO:0018840 isolated congenital hepatic fibrosis biolink:Disease mondo Orphanet:485426|MESH:C562378|ICD9:777.8|UMLS:C0009714|NCIT:C97071|SCTID:79607001|GARD:0006168 A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. ORPHA:485426|UMLS:C0009714|SNOMEDCT:79607001|NCIT:C97071|MESH:C562378 http://purl.obolibrary.org/obo/MONDO_0018840 congenital hepatic fibrosis|nonsyndromic congenital hepatic fibrosis|isolated CHF|congenital fibrose liver gard_rare|ordo_disease MONDO:0018842 primary effusion lymphoma biolink:Disease mondo ICDO:9678/3|MESH:D054685|ICD9:202.80|GARD:0009247|Orphanet:48686|SCTID:713516007|NCIT:C6915|ONCOTREE:PEL|ICD10:C83.8|UMLS:C1292753|MedDRA:10065857|EFO:1000491 Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8). NCIT:C6915|ORPHA:48686|SNOMEDCT:713516007|MEDDRA:10065857|MESH:D054685|UMLS:C1292753 http://purl.obolibrary.org/obo/MONDO_0018842 primary Effusion Lymphoma|AIDS-related lymphoma|body cavity-based lymphoma|PEL gard_rare|ordo_disease MONDO:0018841 congenital bile acid synthesis defect biolink:Disease mondo UMLS:CN239183|ICD10:K76.8|Orphanet:485631|DOID:0050674|EFO:0009039|OMIMPS:607765 ORPHA:485631|UMLS:CN239183|DOID:0050674 http://purl.obolibrary.org/obo/MONDO_0018841 cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency|BASD|CBA|bile acid synthesis defect, congenital ordo_group_of_disorders UBERON:0001077 transverse process of vertebra biolink:AnatomicalEntity mondo The transverse or costal processes of a vertebra, two in number, project one at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes. They serve for the attachment of muscles and ligaments. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001077 diapophyses|processus transversus|diapophysis|vertebra transverse process|transverse process|processus transversus vertebrae MONDO:0004207 pulmonary artery leiomyosarcoma biolink:Disease mondo DOID:7389|NCIT:C5373|UMLS:C1335572 An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5373|UMLS:C1335572|DOID:7389 http://purl.obolibrary.org/obo/MONDO_0004207 leiomyosarcoma of the pulmonary artery|leiomyosarcoma of pulmonary artery|pulmonary artery leiomyosarcoma MONDO:0004206 pulmonary vein leiomyosarcoma biolink:Disease mondo DOID:7388|NCIT:C5374|UMLS:C1335575 An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5374|UMLS:C1335575|DOID:7388 http://purl.obolibrary.org/obo/MONDO_0004206 leiomyosarcoma of pulmonary vein|pulmonary vein leiomyosarcoma|leiomyosarcoma of the pulmonary vein MONDO:0004209 cerebral primitive neuroectodermal tumor biolink:Disease mondo DOID:7398|UMLS:C0751675|NCIT:C4970 A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres. DOID:7398|NCIT:C4970|UMLS:C0751675 http://purl.obolibrary.org/obo/MONDO_0004209 cerebral primitive neuroectodermal tumor|cerebral embryonal tumor, not otherwise specified|cerebral hemisphere primitive neuroectodermal neoplasm|cerebral PNET|primitive neuroectodermal neoplasm of cerebrum|PNET of cerebrum|primitive neuroectodermal neoplasm of cerebral hemispheres|primitive neuroectodermal neoplasm of the cerebral hemispheres|cerebral embryonal tumor, NOS|primitive neuroectodermal neoplasm of the cerebrum|cerebral hemisphere PNET|primitive neuroectodermal tumor of cerebral hemispheres|cerebral hemisphere primitive neuroectodermal tumor|primitive neuroectodermal tumor of cerebrum|primitive neuroectodermal tumor of the cerebrum|primitive neuroectodermal tumor of the cerebral hemispheres|cerebral primitive neuroectodermal neoplasm|PNET of cerebral hemispheres|PNET of the cerebrum|PNET of the cerebral hemispheres MONDO:0006868 neurogenic bowel biolink:Disease mondo EFO:1001061|MedDRA:10048657|UMLS:C0695242|ICD10:K59.2|COHD:201900|MESH:D055496|DOID:13419|ICD9:564.81|SCTID:425671009 Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body. UMLS:C0695242|MESH:D055496|SNOMEDCT:425671009|DOID:13419 http://purl.obolibrary.org/obo/MONDO_0006868 MONDO:0006869 nodular goiter (disease) biolink:Disease mondo EFO:1001062|MESH:D006044|UMLS:C0018023|HP:0005994|DOID:13197|SCTID:419153005|MedDRA:10018495|NCIT:C131437 Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. SNOMEDCT:419153005|DOID:13197|MESH:D006044|NCIT:C131437|UMLS:C0018023 http://purl.obolibrary.org/obo/MONDO_0006869 nodular goiter NOS|nodular goitre|goiter, nodular|nodular goiter MONDO:0004208 superior vena cava leiomyosarcoma biolink:Disease mondo NCIT:C6745|UMLS:C1336531|DOID:7390 An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C6745|UMLS:C1336531|DOID:7390 http://purl.obolibrary.org/obo/MONDO_0004208 leiomyosarcoma of Superior vena cava|leiomyosarcoma of anterior vena cava|leiomyosarcoma of the Superior vena cava|anterior vena cava leiomyosarcoma MONDO:0006866 neonatal myasthenia gravis biolink:Disease mondo SCTID:82178003|EFO:1001059|MESH:D020941|MedDRA:10028963|ICD9:775.2|DOID:14043 A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4) MESH:D020941|SNOMEDCT:82178003|DOID:14043 http://purl.obolibrary.org/obo/MONDO_0006866 neonatal myasthenia gravis MONDO:0004203 female urethral cancer biolink:Disease mondo DOID:738|UMLS:C1517154|NCIT:C39866 A cancer that involves the female urethra. UMLS:C1517154|NCIT:C39866|DOID:738 http://purl.obolibrary.org/obo/MONDO_0004203 cancer of female urethra|malignant female urethra neoplasm|malignant neoplasm of female urethra|female urethra cancer|female urethral malignant neoplasm MONDO:0004202 adrenal medulla carcinoma biolink:Disease mondo DOID:7379 A carcinoma that arises from epithelial cells of the adrenal medulla DOID:7379 http://purl.obolibrary.org/obo/MONDO_0004202 carcinoma of adrenal medulla|adrenal medulla carcinoma MONDO:0006867 obsolete neovascular glaucoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006867 MONDO:0004205 lymphohistiocytoid mesothelioma biolink:Disease mondo UMLS:C1334464|DOID:7381|NCIT:C27779 NCIT:C27779|UMLS:C1334464|DOID:7381 http://purl.obolibrary.org/obo/MONDO_0004205 MONDO:0006864 necrotizing sialometaplasia biolink:Disease mondo SCTID:109769000|DOID:12901|MedDRA:10072176|ICD9:527.8|UMLS:C0037033|ICD10:K11.8|EFO:1001057|MESH:D012797 A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma. UMLS:C0037033|MESH:D012797|SNOMEDCT:109769000|DOID:12901 http://purl.obolibrary.org/obo/MONDO_0006864 MONDO:0006865 necrotizing ulcerative gingivitis biolink:Disease mondo ICD9:101|MESH:D005892|DOID:13924|SCTID:186963008|COHD:26908|NCIT:C34637|ICD10:A69.1|UMLS:C0017575|GARD:0005736|EFO:1001058 A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins. UMLS:C0017575|MESH:D005892|SNOMEDCT:186963008|NCIT:C34637|DOID:13924 http://purl.obolibrary.org/obo/MONDO_0006865 ANUG|Vincent's disease|Vincent's infection|acute necrotizing ulcerative gingivitis|Vincent's angina|acute necrotising ulcerative gingivostomatitis|early acute necrotising gingivitis|Vincent's infection, any site|Vincent's angina NOS|Vincent's gingivitis|phagedenic gingivitis|Fusospirillary gingivitis|acute necrotising ulcerative gingivostomatitis [ambiguous]|trench mouth|acute necrotising ulcerative gingivitis|Vincent's stomatitis|angina - Vincents|acute necrotizing ulcerative gingivostomatitis|acute ulceromembranous gingivitis|Vincent angina|Fusospirillosis|acute membranous gingivitis|acute necrotising ulcerative gingivitis [ambiguous]|Vincent's angina - pharyngitis gard_rare MONDO:0004204 squamous cell skin papilloma biolink:Disease mondo NCIT:C4462|SCTID:254661000|DOID:7380|UMLS:C0345983 A squamous papilloma that involves the zone of skin. SNOMEDCT:254661000|NCIT:C4462|DOID:7380|UMLS:C0345983 http://purl.obolibrary.org/obo/MONDO_0004204 parakeratotic skin papilloma|hyperkeratotic papilloma of skin|hyperkeratotic papilloma of the skin|Dyskeratotic papilloma of skin|Dyskeratotic papilloma of the skin|Dyskeratotic skin papilloma|parakeratotic papilloma of skin|parakeratotic papilloma of the skin|hyperkeratotic skin papilloma|zone of skin squamous papilloma|squamous cell papilloma of skin|squamous cell papilloma of the skin|squamous cell skin papilloma MONDO:0006862 myofascial pain syndrome biolink:Disease mondo UMLS:C0027073|SCTID:24693007|ICD9:729.1|MESH:D009209|EFO:1001054|MedDRA:10048780|DOID:431 Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome. SNOMEDCT:24693007|UMLS:C0027073|MESH:D009209|DOID:431 http://purl.obolibrary.org/obo/MONDO_0006862 MONDO:0006863 myxosarcoma biolink:Disease mondo NCIT:C3255|MESH:D009236|DOID:4136|ICDO:8840/3|EFO:1001056|UMLS:C0027155 An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation. NCIT:C3255|UMLS:C0027155|MESH:D009236|DOID:4136 http://purl.obolibrary.org/obo/MONDO_0006863 myxosarcoma, malignant|myxosarcoma (morphologic abnormality)|myxosarcoma MONDO:0004201 pituitary hypoplasia biolink:Disease mondo NCIT:C27343|DOID:7378|UMLS:C0948740 Incomplete development of the pituitary gland. DOID:7378|UMLS:C0948740|NCIT:C27343 http://purl.obolibrary.org/obo/MONDO_0004201 pituitary hypoplasia|pituitary gland hypoplasia MONDO:0006860 obsolete mucoepidermoid tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006860 MONDO:0006861 myeloid sarcoma biolink:Disease mondo ICD10:C92.30|GARD:0012763|ICD10:C92.3|ONCOTREE:MS|ICD9:205.3|ICDO:9930/3|MedDRA:10028562|NCIT:C3520|Orphanet:86850|MESH:D023981|EFO:1001052|COHD:140967|DOID:8683 A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) DOID:8683|NCIT:C3520|ORPHA:86850|MESH:D023981 http://purl.obolibrary.org/obo/MONDO_0006861 chloroma|granulocytic sarcoma|sarcoma, myeloid, malignant|MS|myeloid sarcoma|extramedullary myeloid tumor ordo_disease MONDO:0004200 superficial urinary bladder carcinoma biolink:Disease mondo NCIT:C27474|SCTID:425231005|DOID:7371|UMLS:C1336527 A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade. DOID:7371|NCIT:C27474|SNOMEDCT:425231005|UMLS:C1336527 http://purl.obolibrary.org/obo/MONDO_0004200 superficial urinary bladder carcinoma|superficial bladder carcinoma|superficial bladder cancer|superficial urinary bladder cancer MONDO:0018829 familial schizencephaly biolink:Disease mondo MESH:C538514|UMLS:C2931870|Orphanet:481986|UMLS:CN776926|GARD:0000166 An instance of schizencephaly that is caused by an inherited modification of the individual's genome. ORPHA:481986|UMLS:CN776926|UMLS:C2931870|MESH:C538514 http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly|hereditary schizencephaly ordo_etiological_subtype UBERON:0001062 anatomical entity biolink:AnatomicalEntity mondo Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. http://purl.obolibrary.org/obo/UBERON_0001062 MONDO:0018837 postinfectious vasculitis biolink:Disease mondo Orphanet:48435|UMLS:C4510302|ICD10:I77.6|SCTID:724063005 Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses. ORPHA:48435|UMLS:C4510302|SNOMEDCT:724063005 http://purl.obolibrary.org/obo/MONDO_0018837 ordo_disease MONDO:0018836 obsolete subcorneal pustular dermatosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018836 MONDO:0018839 acquired schizencephaly biolink:Disease mondo Orphanet:485275|UMLS:CN776925 An instance of schizencephaly that is acquired during the lifetime of the individual. UMLS:CN776925|ORPHA:485275 http://purl.obolibrary.org/obo/MONDO_0018839 acquired schizencephaly ordo_etiological_subtype UBERON:0001064 ventral pancreatic duct biolink:AnatomicalEntity mondo A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. http://purl.obolibrary.org/obo/UBERON_0001064 hepaticopancreatic duct|main pancreatic duct|ductus pancreatis ventralis|canal of Wirsung|pancreatic duct|chief pancreatic duct|duct of Wirsung MONDO:0018838 lissencephaly spectrum disorders biolink:Disease mondo DOID:0050453|ICD10:Q04.8|SCTID:204036008|NCIT:C103921|GARD:0012291|ICD10:Q04.3|OMIMPS:607432|UMLS:C0266463|GARD:0007300|MedDRA:10048911|Orphanet:48471|HP:0001339|MESH:D054082 The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. NCIT:C103921|SNOMEDCT:204036008|ORPHA:48471|UMLS:C0266463|MESH:D054082|DOID:0050453|MEDDRA:10048911 http://purl.obolibrary.org/obo/MONDO_0018838 Broad gyri of cerebrum|macrogyria|lissencephaly|pachygyria|large gyri of cerebrum|lissencephaly (disease) ordo_group_of_disorders MONDO:0018833 rare idiopathic macular telangiectasia biolink:Disease mondo Orphanet:482092|UMLS:CN776863 UMLS:CN776863|ORPHA:482092 http://purl.obolibrary.org/obo/MONDO_0018833 ordo_group_of_disorders|obsoletion_candidate MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease biolink:Disease mondo UMLS:CN776823|Orphanet:482077 UMLS:CN776823|ORPHA:482077 http://purl.obolibrary.org/obo/MONDO_0018832 HTRA1-related autosomal dominant cerebral angiopathy ordo_disease HGNC:16700 ZFPM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16700 MONDO:0018835 nodular regenerative hyperplasia of the liver biolink:Disease mondo ICD9:573.8|UMLS:CN205145|ICD10:K76.8|SCTID:715140008|GARD:0010929|Orphanet:48372 Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins. UMLS:CN205145|ORPHA:48372|SNOMEDCT:715140008 http://purl.obolibrary.org/obo/MONDO_0018835 nodular regenerative hyperplasia|non-cirrhotic nodular transformation|non-cirrhotic portal hypertension|non-cirrhotic nodulation|miliary hepatocellular adenomatosis ordo_disease MONDO:0018834 adenylosuccinate synthetase-like 1-related distal myopathy biolink:Disease mondo Orphanet:482601 ORPHA:482601 http://purl.obolibrary.org/obo/MONDO_0018834 ADSSL1-related distal myopathy ordo_disease MONDO:0018831 HTRA1-related cerebral small vessel disease biolink:Disease mondo Orphanet:482072|UMLS:CN776824 UMLS:CN776824|ORPHA:482072 http://purl.obolibrary.org/obo/MONDO_0018831 HTRA1-related cerebral angiopathy ordo_group_of_disorders MONDO:0018830 Kimura disease biolink:Disease mondo UMLS:C0033838|Wikipedia:Kimura's_disease|EFO:1000722|DOID:7365|NCIT:C26867|MESH:D000796|Orphanet:482|GARD:0006835|MedDRA:10048640|ICD10:I89.8 Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease. NCIT:C26867|UMLS:C0033838|DOID:7365|MEDDRA:10048640|ORPHA:482|MESH:D000796 http://purl.obolibrary.org/obo/MONDO_0018830 eosinophilic lymphogranuloma|angiolymphoid hyperplasia with eosinophilia|eosinophilic lymphofollicular granuloma|eosinophilic hyperplastic lymphogranuloma|eosinophilic lymphofolliculosis|eosinophilic granuloma of soft tissue|Kimura's disease gard_rare|ordo_disease UBERON:0001066 intervertebral disk biolink:AnatomicalEntity mondo A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core. http://purl.obolibrary.org/obo/UBERON_0001066 discus intervertebralis|spinal disc|intervertebral fibrocartilage|intervertebral disc|spinal disk UBERON:0001068 skin of back biolink:AnatomicalEntity mondo A zone of skin that is part of a back [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001068 back zone of skin|back skin|zone of skin of back|skin, dorsal region MONDO:0006837 low tension glaucoma biolink:Disease mondo ICD9:365.12|ICD10:H40.12|EFO:1001022|DOID:13544|COHD:441561|MESH:D057066|UMLS:C0152136|MedDRA:10024931|SCTID:50485007 A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure. DOID:13544|UMLS:C0152136|MESH:D057066|SNOMEDCT:50485007 http://purl.obolibrary.org/obo/MONDO_0006837 tension Glaucomas, normal|Glaucomas, normal tension|glaucoma, normal tension|tension Glaucomas, Low|normal tension Glaucomas|tension glaucoma, normal|low tension Glaucomas|normal tension glaucoma|tension glaucoma, Low|glaucoma, Low tension|Glaucomas, Low tension MONDO:0006838 lupus vulgaris biolink:Disease mondo MESH:D008177|EFO:1001023|UMLS:C0024131|MedDRA:10025143|SCTID:10528009 A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa. UMLS:C0024131|SNOMEDCT:10528009|MESH:D008177 http://purl.obolibrary.org/obo/MONDO_0006838 MONDO:0006835 lipoid nephrosis biolink:Disease mondo ICD10:N04|EFO:1001020|NCIT:C34844|SCTID:44785005|UMLS:C0027721|GARD:0009147|MedDRA:10058325|DOID:10966|MESH:D009402 A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. NCIT:C34844|DOID:10966|UMLS:C0027721|MESH:D009402|SNOMEDCT:44785005 http://purl.obolibrary.org/obo/MONDO_0006835 minimal change disease|minimal change glomerulopathy|lipoid nephrosis|MCNS|minimal change nephropathy|nephrotic syndrome with lesion of minimal change nephrotic syndrome|minimal change glomerulonephritis|nil disease|minimal change nephrotic syndrome|idiopathic minimal change nephrotic syndrome|nephrotic syndrome with lesion of minimal change glomerulonephritis MONDO:0006836 Listeria meningitis biolink:Disease mondo EFO:1001021|ICD9:320.7|DOID:11572|UMLS:C0025293|MESH:D008584|SCTID:31568009 Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36) MESH:D008584|DOID:11572|SNOMEDCT:31568009|UMLS:C0025293 http://purl.obolibrary.org/obo/MONDO_0006836 meningitis, Listeria monocytogenes|cerebritis, Listeria|Meningitides, Listeria monocytogenes|Cerebritides, Listeria|Listeria Meningitides|meningoencephalitis, Listeria|Meningoencephalitides, Listeria|Listeria monocytogenes caused infectious meningitis|Listeria meningoencephalitis|Listeria monocytogenes infectious meningitis|Listeria Meningoencephalitides|Listeria cerebritis|Meningitides, Listeria|Listeria Cerebritides|Listeria monocytogenes meningitis|Listeria monocytogenes Meningitides|Listeria meningitis MONDO:0006833 lingual goiter biolink:Disease mondo DOID:13196|SCTID:75667007|MESH:D047268|EFO:1001018|UMLS:C0271760|ICD9:759.2 Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms. MESH:D047268|SNOMEDCT:75667007|UMLS:C0271760|DOID:13196 http://purl.obolibrary.org/obo/MONDO_0006833 MONDO:0006834 lip cancer biolink:Disease mondo ICD9:140.6|NCIT:C7485|ICD10:C00|ICD9:140.5|EFO:1001019|DOID:8564|ICD9:140|MedDRA:10007089|MESH:D008048|ICD10:C00.9|ICD9:140.8|SCTID:187622006 A primary or metastatic malignant neoplasm involving the lip. NCIT:C7485|SNOMEDCT:187622006|DOID:8564|MESH:D008048 http://purl.obolibrary.org/obo/MONDO_0006834 malignant lip neoplasm|malignant tumour of labial commissure|malignant neoplasm of oral aspect of lip, not specified whether upper or lower|malignant neoplasm of lower lip, inner aspect|malignant neoplasm of lower lip, mucosa|malignant tumour of lip|malignant neoplasm of vermilion border of lip|malignant neoplasm of lip|malignant tumor of Lip|malignant neoplasm of lip, inner aspect|malignant tumor of commissure of lip|malignant neoplasm of lip, unspecified, inner aspect|malignant neoplasm of lip, vermilion border|malignant neoplasm of lip, unspecified, vermilion border|malignant neoplasm of external Lip, not specified as upper or lower|malignant tumor of lower labial mucosa|malignant tumor of labial mucosa|malignant neoplasm of lower lip, buccal aspect|malignant neoplasm of lip, unspecified|malignant Lip neoplasm|malignant neoplasm of lip, external|malignant tumor of the Lip|malignant neoplasm of labial commissure of lip|cancer of lip|malignant neoplasm of other sites of lip|malignant neoplasm of the Lip|malignant neoplasm of commissure of lip|lip cancer|malignant neoplasm of lower lip, oral aspect|malignant neoplasm of Lip|malignant Lip tumor MONDO:0006831 leukostasis biolink:Disease mondo DOID:12986|EFO:1001016|UMLS:C0282548|MedDRA:10024404|MESH:D018921 A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates. DOID:12986|NCIT:C4062|MESH:D018921|UMLS:C0282548 http://purl.obolibrary.org/obo/MONDO_0006831 leukostasis (morphologic abnormality) MONDO:0006832 limited scleroderma biolink:Disease mondo DOID:1577|EFO:1001017|SCTID:299276009|MESH:D045745|UMLS:C0748540 The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma. DOID:1577|MESH:D045745|UMLS:C0748540|SNOMEDCT:299276009 http://purl.obolibrary.org/obo/MONDO_0006832 limited cutaneous systemic sclerosis|systemic sclerosis, limited MONDO:0006830 leukoplakia of penis biolink:Disease mondo DOID:8738|MedDRA:10024394|COHD:195009|SCTID:3323003|ICD9:607.0|NCIT:C3151|ICD10:N48.0|EFO:1001015|UMLS:C0022782 A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene. UMLS:C0022782|NCIT:C3151|SNOMEDCT:3323003|DOID:8738 http://purl.obolibrary.org/obo/MONDO_0006830 leukoplakia of the penis|kraurosis penis|penile leukoplakia|kraurosis of penis MONDO:0018819 obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018819 MONDO:0018818 facial diplegia with paresthesias biolink:Disease mondo Orphanet:480701|UMLS:CN776915 ORPHA:480701|UMLS:CN776915 http://purl.obolibrary.org/obo/MONDO_0018818 facial diplegia with paresthesias variant of Guillain-BarrC) syndrome|facial diplegia with paresthesias variant of Guillain-Barré syndrome|facial diplegia with paresthesias variant of GBS ordo_disease MONDO:0018826 Lewis-Sumner syndrome biolink:Disease mondo MedDRA:10065580|UMLS:C1695985|GARD:0013070|ICD10:G61.8|Orphanet:48162 Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy. ORPHA:48162|UMLS:C1695985|MEDDRA:10065580 http://purl.obolibrary.org/obo/MONDO_0018826 MADSAM|multifocal acquired demyelinating sensory and motor neuropathy gard_rare|ordo_clinical_subtype UBERON:0001051 hypopharynx biolink:AnatomicalEntity mondo Bottom part of the pharynx that connects to the esophagus. http://purl.obolibrary.org/obo/UBERON_0001051 laryngeal pharynx|laryngopharynx|pars laryngea pharyngis MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy biolink:Disease mondo Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. ORPHA:481152 http://purl.obolibrary.org/obo/MONDO_0018825 ordo_malformation_syndrome MONDO:0018828 UPS18 deficiency biolink:Disease mondo OMIM:617397|Orphanet:481665|UMLS:C4479376 ORPHA:481665|http://identifiers.org/omim/617397|UMLS:C4479376 http://purl.obolibrary.org/obo/MONDO_0018828 pseudo-TORCH syndrome 2; PTORCH2|PTORCH2|pseudo-TORCH syndrome 2|USP18 deficiency ordo_disease UBERON:0001052 rectum biolink:AnatomicalEntity mondo the terminal portion of the intestinal tube, terminating with the anus http://purl.obolibrary.org/obo/UBERON_0001052 terminal portion of large intestine|intestinum rectum|rectal sac|terminal portion of intestine MONDO:0018827 familial chilblain lupus biolink:Disease mondo UMLS:CN776917|OMIMPS:610448|Orphanet:481662 An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome. ORPHA:481662|UMLS:CN776917 http://purl.obolibrary.org/obo/MONDO_0018827 hereditary Chilblain lupus|hereditary chilblain lupus ordo_disease MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome biolink:Disease mondo Orphanet:480898|UMLS:CN776946 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). ORPHA:480898|UMLS:CN776946 http://purl.obolibrary.org/obo/MONDO_0018822 ordo_disease MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability biolink:Disease mondo UMLS:CN776923|Orphanet:480880 ORPHA:480880|UMLS:CN776923 http://purl.obolibrary.org/obo/MONDO_0018821 X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females|X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females ordo_malformation_syndrome MONDO:0018824 pyoderma gangrenosum biolink:Disease mondo ICD9:686.01|SCTID:74578003|GARD:0007510|DOID:8553|COHD:133283|Orphanet:48104|UMLS:C0085652|MedDRA:10037635|ICD10:L88|EFO:0006835|MESH:D017511 Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate. SNOMEDCT:74578003|ORPHA:48104|MESH:D017511|DOID:8553|MEDDRA:10037635|UMLS:C0085652 http://purl.obolibrary.org/obo/MONDO_0018824 ordo_disease|gard_rare MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome biolink:Disease mondo UMLS:CN776924|Orphanet:480907 ORPHA:480907|UMLS:CN776924 http://purl.obolibrary.org/obo/MONDO_0018823 ordo_malformation_syndrome MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome biolink:Disease mondo Orphanet:480864|UMLS:CN776869 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. ORPHA:480864|UMLS:CN776869 http://purl.obolibrary.org/obo/MONDO_0018820 ordo_disease NCBITaxon:70426 Oxyuridomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_70426 Oxyurida MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma biolink:Disease mondo NCIT:C8196|ICD9:446.3|EFO:1001013|COHD:133511|ICD10:M31.2|MedDRA:10024255|MESH:D006103|DOID:9072 An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma. NCIT:C8196|MESH:D006103|DOID:9072 http://purl.obolibrary.org/obo/MONDO_0006828 Midline lethal granuloma of nasal cavity and paranasal sinus|lethal midline granuloma|midfacial Necrotising lesion|Midline lethal granuloma of the nasal cavity and paranasal sinus|nasal cavity and paranasal sinus lethal Midline granuloma|malignant granuloma of face MONDO:0006829 leukemoid reaction biolink:Disease mondo EFO:1001014|ICD9:288.8|SCTID:56478004|MedDRA:10024373|MESH:D007955|UMLS:C0023501|COHD:432283|ICD10:D72.823|ICD9:288.62 A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. UMLS:C0023501|MESH:D007955|SNOMEDCT:56478004|NCIT:C3185 http://purl.obolibrary.org/obo/MONDO_0006829 MONDO:0006848 marasmus biolink:Disease mondo EFO:1001033|UMLS:C0086588|COHD:440370|ICD9:261|SCTID:29740003|DOID:12328|MedDRA:10026820|ICD10:E41 The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses. SNOMEDCT:29740003|DOID:12328|UMLS:C0086588 http://purl.obolibrary.org/obo/MONDO_0006848 nutritional atrophy|nutritional marasmus MONDO:0006849 mastitis biolink:Disease mondo MedDRA:10026883|SCTID:45198002|DOID:10690|NCIT:C53662|UMLS:C0024894|MESH:D008413|EFO:1001034|UMLS:C0392317 Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men. UMLS:C0024894|DOID:10690|SNOMEDCT:45198002|UMLS:C0392317|NCIT:C53662|MESH:D008413 http://purl.obolibrary.org/obo/MONDO_0006849 inflammatory disease of breast|breast infection|inflammation of breast|breast inflammation|inflammatory breast disease MONDO:0006846 malignant hypertension biolink:Disease mondo UMLS:C0020540|EFO:1001031|SCTID:70272006|MedDRA:10025600|DOID:10824|MESH:D006974|UMLS:C0745136 Severe hypertension that is characterized by rapid onset of extremely high blood pressure. UMLS:C0745136|MESH:D006974|SNOMEDCT:70272006|NCIT:C3118|DOID:10824|UMLS:C0020540 http://purl.obolibrary.org/obo/MONDO_0006846 hypertensive emergency|accelerated-malignant hypertension|MHT|malignant phase hypertension MONDO:0006847 malignant lymphatic vessel tumor biolink:Disease mondo EFO:1001032 Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels. http://purl.obolibrary.org/obo/MONDO_0006847 MONDO:0006844 magnesium deficiency biolink:Disease mondo SCTID:238118002|MedDRA:10025433|ICD10:E61.2|EFO:1001029|MESH:D008275|UMLS:C0024473 A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936) SNOMEDCT:238118002|MESH:D008275|UMLS:C0024473 http://purl.obolibrary.org/obo/MONDO_0006844 MONDO:0006845 male genital tuberculosis biolink:Disease mondo EFO:1001030|MedDRA:10061234|MESH:D014389|UMLS:C0041317|SCTID:240379005 Mycobacterium infections of the male reproductive tract (genitalia, male). MESH:D014389|UMLS:C0041317|SNOMEDCT:240379005 http://purl.obolibrary.org/obo/MONDO_0006845 Tuberculoses, Male genital|genital tuberculosis, Male|male genital tuberculosis|Male genital Tuberculoses|genital Tuberculoses, Male|male reproductive system tuberculosis MONDO:0006842 lymphangiomyoma biolink:Disease mondo MESH:D008203|UMLS:C0024223|EFO:1001027|ICDO:9174/0|NCIT:C3204 A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum. NCIT:C3204|MESH:D008203|UMLS:C0024223 http://purl.obolibrary.org/obo/MONDO_0006842 lymphangioleiomyoma|lymphangiomyoma HP:0500165 Abnormal blood oxygen level biolink:PhenotypicFeature mondo An abnormality of the partial pressure of oxygen in the arterial blood. http://purl.obolibrary.org/obo/HP_0500165 Abnormal blood oxygen levels|Abnormal blood O2 level|Abnromal O2 blood concentration MONDO:0006843 macular holes biolink:Disease mondo UMLS:C0024441|DOID:7633|NCIT:C34795|EFO:1001028|SCTID:232006002 A hole in the macula of the retina. DOID:7633|SNOMEDCT:232006002|NCIT:C34795|UMLS:C0024441 http://purl.obolibrary.org/obo/MONDO_0006843 macular hole MONDO:0006840 lymphangiectasis biolink:Disease mondo MESH:D008200|NCIT:C97087|EFO:1001025|GARD:0006933|UMLS:C0024214 Dilatation of the lymphatic vessels. MESH:D008200|UMLS:C0024214|NCIT:C97087 http://purl.obolibrary.org/obo/MONDO_0006840 lymphangiectasia gard_rare MONDO:0006841 lymphangioendothelioma biolink:Disease mondo NCIT:C3203|SCTID:403975006|EFO:1001026 A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques. NCIT:C3203|SNOMEDCT:403975006 http://purl.obolibrary.org/obo/MONDO_0006841 acquired progressive lymphangioma MONDO:0018808 Caroli syndrome biolink:Disease mondo UMLS:CN776859|Orphanet:480520 ORPHA:480520|UMLS:CN776859 http://purl.obolibrary.org/obo/MONDO_0018808 ordo_malformation_syndrome MONDO:0018807 idiopathic ductopenia biolink:Disease mondo Orphanet:480512|UMLS:CN244899 UMLS:CN244899|ORPHA:480512 http://purl.obolibrary.org/obo/MONDO_0018807 IAD|idiopathic adult ductopenia ordo_disease MONDO:0018809 idiopathic peliosis hepatis biolink:Disease mondo Orphanet:480524 ORPHA:480524 http://purl.obolibrary.org/obo/MONDO_0018809 idiopathic peliosis hepatitis ordo_disease MONDO:0018815 aneurysmal bone cyst (disease) biolink:Disease mondo SCTID:203468000|NCIT:C3516|COHD:74737|Orphanet:480553|HP:0012063|ICD9:733.22 A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage. ORPHA:480553|SNOMEDCT:203468000|NCIT:C3516 http://purl.obolibrary.org/obo/MONDO_0018815 aneurysmal cyst of bone|ABC|aneurysmal cyst of the bone|aneurysmal bone cyst ordo_disease UBERON:0001040 yolk sac biolink:AnatomicalEntity mondo A sac-like expansion of the ventral wall of the intestine, narrowed into a yolk stalk near the body[Hyman's]. Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes[WP]. http://purl.obolibrary.org/obo/UBERON_0001040 saccus vitellinus|vesicula umbilicalis MONDO:0018814 non-severe combined immunodeficiency biolink:Disease mondo Orphanet:480549 ORPHA:480549 http://purl.obolibrary.org/obo/MONDO_0018814 non-SCID ordo_group_of_disorders UBERON:0001042 chordate pharynx biolink:AnatomicalEntity mondo A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. http://purl.obolibrary.org/obo/UBERON_0001042 pharynx MONDO:0018817 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018817 UBERON:0001041 foregut biolink:AnatomicalEntity mondo Anterior subdivision of a digestive tract. http://purl.obolibrary.org/obo/UBERON_0001041 proenteron|praeenteron MONDO:0018816 isolated neonatal sclerosing cholangitis biolink:Disease mondo UMLS:C4479344|Orphanet:480556|OMIM:617394 Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. http://identifiers.org/omim/617394|ORPHA:480556|UMLS:C4479344 http://purl.obolibrary.org/obo/MONDO_0018816 NSC|sclerosing cholangitis, neonatal|sclerosing cholangitis, neonatal; NSC ordo_disease MONDO:0018811 congenital portosystemic shunt biolink:Disease mondo Orphanet:480531 Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours. ORPHA:480531 http://purl.obolibrary.org/obo/MONDO_0018811 congenital portosystemic venous fistula ordo_morphological_anomaly MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome biolink:Disease mondo Orphanet:480528|UMLS:CN776878 Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. ORPHA:480528|UMLS:CN776878 http://purl.obolibrary.org/obo/MONDO_0018810 ordo_malformation_syndrome MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement biolink:Disease mondo Orphanet:480541 ORPHA:480541 http://purl.obolibrary.org/obo/MONDO_0018813 ordo_disease MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis biolink:Disease mondo Orphanet:480536|UMLS:CN776886 ORPHA:480536|UMLS:CN776886 http://purl.obolibrary.org/obo/MONDO_0018812 MSH3-related attenuated familial polyposis coli|MSH3-related AFAP|MSH3-related attenuated FAP ordo_clinical_subtype UBERON:0001048 primordium biolink:AnatomicalEntity mondo Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. http://purl.obolibrary.org/obo/UBERON_0001048 future organ|primordia|placode|bud|rudiment UBERON:0001049 neural tube biolink:AnatomicalEntity mondo In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001049 presumptive central nervous system|tubus neuralis|neural primordium UBERON:0001044 saliva-secreting gland biolink:AnatomicalEntity mondo saliva-secreting exocrine glands of the oral cavity[GO] http://purl.obolibrary.org/obo/UBERON_0001044 glandulae salivariae|salivary gland UBERON:0001043 esophagus biolink:AnatomicalEntity mondo Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). http://purl.obolibrary.org/obo/UBERON_0001043 oesophagus|gullet MONDO:0006839 Lutembacher syndrome biolink:Disease mondo EFO:1001024|DOID:1998|UMLS:C0024164|MESH:D008185|SCTID:204319006 A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis. UMLS:C0024164|SNOMEDCT:204319006|DOID:1998|MESH:D008185 http://purl.obolibrary.org/obo/MONDO_0006839 syndrome, Lutembacher|syndrome, Lutembacher's|Lutembacher's anomaly|Lutembacher syndrome|Lutembacher's syndrome|Lutembachers syndrome UBERON:0001046 hindgut biolink:AnatomicalEntity mondo The caudalmost subdivision of a digestive tract. http://purl.obolibrary.org/obo/UBERON_0001046 metenteron UBERON:0001045 midgut biolink:AnatomicalEntity mondo Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. http://purl.obolibrary.org/obo/UBERON_0001045 mesenteron UBERON:0005908 conjunctival sac biolink:AnatomicalEntity mondo A serous sac which is the aggregate of the conjunctiva plus the conjunctival space http://purl.obolibrary.org/obo/UBERON_0005908 subbrillar sac|conjunctiva serous sac UBERON:0005906 serous sac biolink:AnatomicalEntity mondo Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] http://purl.obolibrary.org/obo/UBERON_0005906 UBERON:0005904 duct of male reproductive system biolink:AnatomicalEntity mondo Any of the ducts that are part of a male reproductive system. http://purl.obolibrary.org/obo/UBERON_0005904 UBERON:0005903 duct of seminal vesicle biolink:AnatomicalEntity mondo Each seminal vesicle consists of a single tube, coiled upon itself, and giving off several irregular cecal diverticula; the separate coils, as well as the diverticula, are connected together by fibrous tissue. When uncoiled, the tube is about the diameter of a quill, and varies in length from 10 to 15 cm.; it ends posteriorly in a cul-de-sac; its anterior extremity becomes constricted into a narrow straight duct called the excretory duct of seminal gland (or duct of the seminal vesicle), which joins with the corresponding ductus deferens to form the ejaculatory duct[WP]. http://purl.obolibrary.org/obo/UBERON_0005903 ductus excretorius glandulae vesiculosae|excretory duct of seminal gland|seminal vesicle duct|ductus excretorius (vesicula seminalis)|ductus excretorius glandulae vesiculosae UBERON:0005902 occipital region biolink:AnatomicalEntity mondo Anatomical cluster that is located in the posterior region of the cranium and forms the margin of the foramen magnum and occipital condyles. http://purl.obolibrary.org/obo/UBERON_0005902 basicranial region|occipital region of head|occipital part of head|back of head UBERON:0005911 endo-epithelium biolink:AnatomicalEntity mondo Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA] http://purl.obolibrary.org/obo/UBERON_0005911 endoepithelium|endoderm-derived epithelium NCBITaxon:1980418 Phenuiviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980418 NCBITaxon:1980416 Peribunyaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980416 Bunyaviridae NCBITaxon:1980410 Bunyavirales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980410 NCBITaxon:1980415 Nairoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980415 NCBITaxon:1980413 Hantaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980413 NCBITaxon:92088 Trombiculoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_92088 GO:0008544 epidermis development biolink:OntologyClass mondo The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. http://purl.obolibrary.org/obo/GO_0008544 hypodermis development UBERON:2001626 premaxillary tooth biolink:AnatomicalEntity mondo Tooth that is attached to the premaxilla. http://purl.obolibrary.org/obo/UBERON_2001626 GO:0033500 carbohydrate homeostasis biolink:OntologyClass mondo A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. http://purl.obolibrary.org/obo/GO_0033500 HGNC:1802 CDSN biolink:OntologyClass mondo http://identifiers.org/hgnc/1802 GO:0045541 negative regulation of cholesterol biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. http://purl.obolibrary.org/obo/GO_0045541 negative regulation of cholesterol anabolism|negative regulation of cholesterol synthesis|downregulation of cholesterol biosynthetic process|negative regulation of cholesterol formation|down regulation of cholesterol biosynthetic process|inhibition of cholesterol biosynthetic process|negative regulation of cholesterol biosynthesis|down-regulation of cholesterol biosynthetic process HGNC:1809 CDY1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1809 GO:0045542 positive regulation of cholesterol biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. http://purl.obolibrary.org/obo/GO_0045542 positive regulation of cholesterol biosynthesis|positive regulation of cholesterol synthesis|up regulation of cholesterol biosynthetic process|stimulation of cholesterol biosynthetic process|positive regulation of cholesterol formation|up-regulation of cholesterol biosynthetic process|activation of cholesterol biosynthetic process|upregulation of cholesterol biosynthetic process|positive regulation of cholesterol anabolism GO:0045540 regulation of cholesterol biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. http://purl.obolibrary.org/obo/GO_0045540 regulation of cholesterol anabolism|regulation of cholesterol biosynthesis|regulation of cholesterol synthesis|regulation of cholesterol formation NCBITaxon:1280412 Conoidasida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1280412 HGNC:1810 CDY2A biolink:OntologyClass mondo http://identifiers.org/hgnc/1810 UBERON:0005946 outflow tract of atrium biolink:AnatomicalEntity mondo An outflow tract that is part of a cardiac atrium. http://purl.obolibrary.org/obo/UBERON_0005946 outflow part of atrium UBERON:0005956 outflow part of left ventricle biolink:AnatomicalEntity mondo Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. http://purl.obolibrary.org/obo/UBERON_0005956 outflow tract of left ventricle|aortic vestibule|LVOT|vestibulum aortae|Sibson vestibule|left ventricular outflow tract|left ventricular outflow|heart left ventricle outflow tract CHEBI:71392 tetracycline(1-) biolink:ChemicalSubstance mondo An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. http://purl.obolibrary.org/obo/CHEBI_71392 tetracycline anion|(1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,7,11-trihydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracene-2,5-diolate UBERON:0005953 outflow part of right ventricle biolink:AnatomicalEntity mondo Anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0005953 right ventricle pulmonary outflow tract|pulmonary conus|pulmonary cone|right ventricular outflow tract|arterial cone|RVOT|infundibulum|conus arteriosus|conus arteriosus (infundibulum)|pulmonary conus|outflow tract of right ventricle|infundibulum of right ventricle GO:0070507 regulation of microtubule cytoskeleton organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/GO_0070507 regulation of microtubule dynamics|regulation of microtubule cytoskeleton organisation NCBITaxon:1652081 Poeae Chloroplast Group 2 (Poeae type) organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1652081 UBERON:0005945 neurocranial trabecula biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005945 trabecula|neurocranial trabeculae|trabecular cartilage UBERON:0005944 axial skeleton plus cranial skeleton biolink:AnatomicalEntity mondo Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. http://purl.obolibrary.org/obo/UBERON_0005944 skeleton axiale HGNC:1838 CECR biolink:OntologyClass mondo http://identifiers.org/hgnc/1838 GO:0008509 anion transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of a negatively charged ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0008509 anion transporter activity HGNC:1839 ADA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1839 HGNC:1836 CEBPE biolink:OntologyClass mondo http://identifiers.org/hgnc/1836 UBERON:0005928 external naris biolink:AnatomicalEntity mondo A naris that provides one of the small external openings of the head that give passage to air for breathing. http://purl.obolibrary.org/obo/UBERON_0005928 blowhole|nostril|anterior nares|naris|anterior naris|external nares HGNC:1833 CEBPA biolink:OntologyClass mondo http://identifiers.org/hgnc/1833 GO:0045578 negative regulation of B cell differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation. http://purl.obolibrary.org/obo/GO_0045578 down regulation of B cell differentiation|inhibition of B cell differentiation|negative regulation of B cell development|down-regulation of B cell differentiation|negative regulation of B-cell differentiation|negative regulation of B lymphocyte differentiation|negative regulation of B-lymphocyte differentiation|downregulation of B cell differentiation GO:0045579 positive regulation of B cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of B cell differentiation. http://purl.obolibrary.org/obo/GO_0045579 positive regulation of B-lymphocyte differentiation|upregulation of B cell differentiation|positive regulation of B cell development|stimulation of B cell differentiation|up regulation of B cell differentiation|positive regulation of B-cell differentiation|positive regulation of B lymphocyte differentiation|activation of B cell differentiation|up-regulation of B cell differentiation GO:0045576 mast cell activation biolink:OntologyClass mondo The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors. http://purl.obolibrary.org/obo/GO_0045576 GO:0045577 regulation of B cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of B cell differentiation. http://purl.obolibrary.org/obo/GO_0045577 regulation of B-cell differentiation|regulation of B lymphocyte differentiation|regulation of B-lymphocyte differentiation|regulation of B cell development MONDO:0041086 mixed anxiety and depressive disorder biolink:Disease mondo SCTID:231504006 SNOMEDCT:231504006 http://purl.obolibrary.org/obo/MONDO_0041086 mixed anxiety and depressive disorder|anxiety depression CHEBI:58315 L-tyrosine zwitterion biolink:ChemicalSubstance mondo An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-tyrosine; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_58315 L-tyrosine|(2S)-2-ammonio-3-(4-hydroxyphenyl)propanoate|(2S)-2-azaniumyl-3-(4-hydroxyphenyl)propanoate GO:0045581 negative regulation of T cell differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/GO_0045581 inhibition of T cell differentiation|negative regulation of T cell development|down-regulation of T cell differentiation|negative regulation of T-cell differentiation|negative regulation of T lymphocyte differentiation|negative regulation of T-lymphocyte differentiation|downregulation of T cell differentiation|down regulation of T cell differentiation GO:0045582 positive regulation of T cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/GO_0045582 upregulation of T cell differentiation|positive regulation of T cell development|up regulation of T cell differentiation|stimulation of T cell differentiation|positive regulation of T-cell differentiation|positive regulation of T lymphocyte differentiation|up-regulation of T cell differentiation|activation of T cell differentiation|positive regulation of T-lymphocyte differentiation MONDO:0041093 central retinal vein occlusion with macular edema biolink:Disease mondo SCTID:232039004 SNOMEDCT:232039004 http://purl.obolibrary.org/obo/MONDO_0041093 central retinal vein occlusion with macular edema MONDO:0041095 malignant otitis externa caused by Pseudomonas aeruginosa biolink:Disease mondo UMLS:C0395818|SCTID:232230009 An malignant otitis externa caused by infection with Pseudomonas aeruginosa. UMLS:C0395818|SNOMEDCT:232230009 http://purl.obolibrary.org/obo/MONDO_0041095 malignant otitis externa caused by Pseudomonas aeruginosa|malignant otitis externa due to Pseudomonas aeruginosa|Pseudomonas aeruginosa caused malignant otitis externa|Pseudomonas aeruginosa malignant otitis externa GO:0045580 regulation of T cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/GO_0045580 regulation of T-cell differentiation|regulation of T lymphocyte differentiation|regulation of T-lymphocyte differentiation|regulation of T cell development HGNC:1848 CEL biolink:OntologyClass mondo http://identifiers.org/hgnc/1848 GO:0008514 organic anion transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0008514 UBERON:0005913 zone of bone organ biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0005913 bone organ zone MONDO:0016060 laryngotracheoesophageal cleft biolink:Disease mondo Orphanet:2004|MESH:C537875|GARD:0003188|ICD10:Q32.1|NCIT:C98622|SCTID:232461002 A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. SNOMEDCT:232461002|MESH:C537875|NCIT:C98622|ORPHA:2004 http://purl.obolibrary.org/obo/MONDO_0016060 congenital cleft larynx|laryngo-tracheo-esophageal diastema|laryngeal cleft|Larnygeotracheoesophageal cleft|laryngo-tracheo-esophageal cleft|tracheal cleft|LC|LTEC ordo_morphological_anomaly MONDO:0016061 immunodeficiency with factor H anomaly biolink:Disease mondo Orphanet:200421|ICD10:D84.1 ORPHA:200421 http://purl.obolibrary.org/obo/MONDO_0016061 ordo_disease MONDO:0016062 median cleft lip/mandibule biolink:Disease mondo Orphanet:2006|SCTID:723383005|ICD10:Q36.1 Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification. ORPHA:2006|SNOMEDCT:723383005 http://purl.obolibrary.org/obo/MONDO_0016062 median cleft lower facial stage ordo_morphological_anomaly MONDO:0004078 mucinous intrahepatic cholangiocarcinoma biolink:Disease mondo NCIT:C41618|UMLS:C1513718|DOID:7024 An intrahepatic cholangiocarcinoma that produces abundant mucin. NCIT:C41618|UMLS:C1513718|DOID:7024 http://purl.obolibrary.org/obo/MONDO_0004078 mucin-producing intrahepatic cholangiocarcinoma|mucinous intrahepatic cholangiocarcinoma MONDO:0004077 lumbosacral lipoma biolink:Disease mondo NCIT:C6500|UMLS:C1334438|DOID:7017 A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine. NCIT:C6500|DOID:7017|UMLS:C1334438 http://purl.obolibrary.org/obo/MONDO_0004077 lipoma of sacral region of vertebral column|sacral region of vertebral column lipoma MONDO:0004079 lung mucous gland adenoma biolink:Disease mondo DOID:7030|NCIT:C5664|UMLS:C1332640 A benign adenomatous neoplasm that arises from the mucous glands in the bronchus. UMLS:C1332640|NCIT:C5664|DOID:7030 http://purl.obolibrary.org/obo/MONDO_0004079 bronchial mucus gland adenoma|lung mucous gland adenoma|adenoma of bronchial mucous gland|adenoma of bronchial mucus gland|adenoma of the bronchial mucous gland|bronchial cystadenoma|adenoma of the bronchial mucus gland|lung polyadenoma MONDO:0004074 ovarian mucinous cystadenofibroma biolink:Disease mondo UMLS:C1518725|NCIT:C40041|DOID:7013 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. UMLS:C1518725|DOID:7013|NCIT:C40041 http://purl.obolibrary.org/obo/MONDO_0004074 ovarian mucinous cystadenofibroma MONDO:0004073 obsolete dentin dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004073 MONDO:0004076 tendon sheath lipoma biolink:Disease mondo UMLS:C1336703|DOID:7016|NCIT:C6499 A benign tumor, composed of mature adipocytes, that arises within the tendon sheath. NCIT:C6499|UMLS:C1336703|DOID:7016 http://purl.obolibrary.org/obo/MONDO_0004076 lipoma of tendon sheath|lipoma of the tendon sheath|tendon sheath lipoma MONDO:0043683 Leriche syndrome biolink:Disease mondo MESH:D007925|NCIT:C34773|UMLS:C0023370|SCTID:307816004 An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention. UMLS:C0023370|MESH:D007925|SNOMEDCT:307816004|NCIT:C34773 http://purl.obolibrary.org/obo/MONDO_0043683 syndrome, Leriche|Leriche syndrome|syndrome, Leriche's|Leriche's syndrome|leriche's syndrome|Leriches syndrome MONDO:0004075 infiltrating lipoma biolink:Disease mondo UMLS:C0334473|NCIT:C7451|DOID:7014 A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas. NCIT:C7451|DOID:7014|UMLS:C0334473 http://purl.obolibrary.org/obo/MONDO_0004075 intramuscular lipoma|intramuscular lipoma (morphologic abnormality) CHEBI:61951 microtubule-destabilising agent biolink:ChemicalSubstance mondo Any substance that interacts with tubulin to inhibit polymerisation of microtubules. http://purl.obolibrary.org/obo/CHEBI_61951 microtubule destabilising agents|microtubule destabilizing role|microtubule destabilising agent|microtubule-destabilising agents|microtubule-destabilizing agent|microtubule destabilising role|microtubule-destabilizing agents MONDO:0004070 obsolete gemistocytic astrocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004070 MONDO:0004072 obsolete protoplasmic astrocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004072 MONDO:0004071 childhood cerebral astrocytoma biolink:Disease mondo DOID:7007|UMLS:C0338070|NCIT:C4347|GARD:0009302 An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. UMLS:C0338070|NCIT:C4347|DOID:7007 http://purl.obolibrary.org/obo/MONDO_0004071 pediatric astrocytoma of the cerebrum|cerebral astrocytoma, childhood|childhood astrocytic tumor of telencephalon|telencephalon juvenile astrocytoma|pediatric astrocytoma of cerebrum|pediatric cerebral astrocytoma|cerebral astrocytoma|childhood astrocytoma of cerebrum|childhood astrocytoma of the cerebrum|telencephalon childhood astrocytic tumor gard_rare MONDO:0043678 chromosome inversion biolink:Disease mondo MESH:D007446|NCIT:C6827 A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome. MESH:D007446|NCIT:C6827 http://purl.obolibrary.org/obo/MONDO_0043678 chromosomal Inversions|chromosome Inversions|chromosomal inversion|Inversions, chromosomal|inversion, chromosomal|inversion, chromosome|inverted chromosome|inversion|Inversions, chromosome|inv MONDO:0016067 Crandall syndrome biolink:Disease mondo Orphanet:202|GARD:0001561|UMLS:C0432348|SCTID:278098005|ICD9:704.8 This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder. ORPHA:202|SNOMEDCT:278098005|UMLS:C0432348 http://purl.obolibrary.org/obo/MONDO_0016067 alopecia-deafness-hypogonadism syndrome|alopecia deafness hypogonadism|alopecia-sensorineural deafness-hypogonadism syndrome gard_rare|ordo_disease MONDO:0016068 fibrochondrogenesis biolink:Disease mondo ICD10:Q77.7|DOID:0060465|Orphanet:2021|GARD:0002321|OMIMPS:228520|MESH:C562524|SCTID:17144009 Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported. UMLS:C0265282|SNOMEDCT:17144009|DOID:0060465|MESH:C562524|ORPHA:2021 http://purl.obolibrary.org/obo/MONDO_0016068 gard_rare|ordo_disease MONDO:0016069 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016069 MONDO:0016063 Cowden disease biolink:Disease mondo MESH:D006223|GARD:0006202|ICD10:Q85.8|Orphanet:201|DOID:6457|OMIMPS:158350|UMLS:C0018553|SCTID:58037000|MedDRA:10051906|NCIT:C3076 ORPHA:201|SNOMEDCT:58037000|MEDDRA:10051906|MESH:D006223|UMLS:C0018553|NCIT:C3076|DOID:6457 http://purl.obolibrary.org/obo/MONDO_0016063 dysplastic gangliocytoma of cerebellum|Cowden disease|Cowden syndrome|MHAM|Lhermitte-Duclos disease|Cowden's disease|multiple hamartoma syndrome|CD|PTEN hamartoma syndrome ordo_disease MONDO:0016064 cleft palate biolink:Disease mondo ICD10:Q35.7|COHD:135923|ICD10:Q35.5|SCTID:63567004|ICD9:749.00|MedDRA:10009269|ICD10:Q35.3|Orphanet:2014|ICD10:Q35.9|ICD10:Q35.1|DOID:674|ICD9:749.0|MESH:D002972|ICD10:Q35|NCIT:C87069|UMLS:C0008925 Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. MESH:D002972|DOID:674|NCIT:C87069|UMLS:C0008925|MEDDRA:10009269|ORPHA:2014|SNOMEDCT:63567004 http://purl.obolibrary.org/obo/MONDO_0016064 cleft velum|palatoschisis|uranostaphyloschisis ordo_group_of_disorders MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome biolink:Disease mondo SCTID:719466009|UMLS:CN200784|Orphanet:2015|GARD:0001392|ICD10:Q87.0 Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993. UMLS:CN200784|SNOMEDCT:719466009|ORPHA:2015 http://purl.obolibrary.org/obo/MONDO_0016065 cleft palate short stature vertebral anomalies|Mathieu-De Broca-Bony syndrome ordo_malformation_syndrome|gard_rare MONDO:0016066 sternal cleft biolink:Disease mondo SCTID:54008006|MESH:C537489|Orphanet:2017|UMLS:C2931507|ICD9:756.3|ICD10:Q76.7|GARD:0005012 Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated. MESH:C537489|UMLS:C0265696|UMLS:C2931507|ORPHA:2017|SNOMEDCT:54008006 http://purl.obolibrary.org/obo/MONDO_0016066 cleft sternum|congenital sternal cleft|sternum bifidum ordo_group_of_disorders|gard_rare MONDO:0016050 thiamine-responsive encephalopathy biolink:Disease mondo Orphanet:199348|SCTID:723557004 Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine. SNOMEDCT:723557004|ORPHA:199348 http://purl.obolibrary.org/obo/MONDO_0016050 ordo_disease MONDO:0016051 cleft lip-retinopathy syndrome biolink:Disease mondo MESH:C538272|Orphanet:1995|ICD10:Q87.8|UMLS:C2931789|GARD:0000435 Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy. ORPHA:1995|UMLS:C2931789|MESH:C538272 http://purl.obolibrary.org/obo/MONDO_0016051 Ausems-Wittebol Post-Hennekam syndrome|cleft lip-progressive retinopathy syndrome|Ausems Wittebol-Post Hennekam syndrome|cleft lip with progressive retinopathy|cleft lip-cone rod dystrophy syndrome ordo_malformation_syndrome MONDO:0004089 basaloid carcinoma of the penis biolink:Disease mondo UMLS:C1332462|ONCOTREE:BPSCC|NCIT:C6980|DOID:7047 An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present. UMLS:C1332462|NCIT:C6980|DOID:7047 http://purl.obolibrary.org/obo/MONDO_0004089 penis basaloid squamous cell carcinoma|basaloid penile squamous cell carcinoma|squamous cell carcinoma of penis, basaloid type|basaloid carcinoma of the penis|basaloid carcinoma of penis|BPSCC|basaloid squamous cell carcinoma of the penis|basaloid squamous cell carcinoma of penis|squamous cell carcinoma of the penis, basaloid type|penis basaloid carcinoma MONDO:0004088 cervical basaloid carcinoma biolink:Disease mondo DOID:7046|NCIT:C40189|UMLS:C1511063 An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm. UMLS:C1511063|DOID:7046|NCIT:C40189 http://purl.obolibrary.org/obo/MONDO_0004088 cervical basaloid squamous cell carcinoma|cervical basaloid carcinoma HP:0030222 Visual agnosia biolink:PhenotypicFeature mondo MSH:D000377|SNOMEDCT_US:25762009|UMLS:C0234502 Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. http://purl.obolibrary.org/obo/HP_0030222 MONDO:0004085 choroid epithelioid cell melanoma biolink:Disease mondo NCIT:C6102|UMLS:C1333024|DOID:7041 A epithelioid cell melanoma that involves the optic choroid. NCIT:C6102|DOID:7041|UMLS:C1333024 http://purl.obolibrary.org/obo/MONDO_0004085 optic choroid epithelioid cell melanoma|epithelioid cell melanoma of the choroid|epithelioid cell melanoma of optic choroid|epithelioid cell melanoma of choroid|choroid epithelioid cell melanoma|choroidal epithelioid cell melanoma MONDO:0043693 alcoholic liver diseases biolink:Disease mondo EFO:0008573|SCTID:41309000|NCIT:C34783|MESH:D008108 A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. MESH:D008108|NCIT:C34783|SNOMEDCT:41309000 http://purl.obolibrary.org/obo/MONDO_0043693 liver disease, alcoholic|alcoholic liver damage|alcoholic liver disease|alcoholic liver diseases MONDO:0004084 obsolete uveal epithelioid cell melanoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004084 MONDO:0004087 basaloid large cell lung carcinoma biolink:Disease mondo NCIT:C7266|ONCOTREE:BLCLC|DOID:7045|UMLS:C1332463 A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis. UMLS:C1332463|NCIT:C7266|DOID:7045 http://purl.obolibrary.org/obo/MONDO_0004087 basaloid large cell lung carcinoma|basaloid lung carcinoma|basaloid large cell carcinoma of the lung MONDO:0004086 ciliary body epithelioid cell melanoma biolink:Disease mondo NCIT:C6119|UMLS:C1333050|DOID:7042 A epithelioid cell melanoma that involves the ciliary body. NCIT:C6119|DOID:7042|UMLS:C1333050 http://purl.obolibrary.org/obo/MONDO_0004086 ciliary body epithelioid cell melanoma|epithelioid cell melanoma of ciliary body|epithelioid cell melanoma of the ciliary body MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma biolink:Disease mondo NCIT:C5775|UMLS:C0861855|DOID:7032 A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells. NCIT:C5775|DOID:7032|UMLS:C0861855 http://purl.obolibrary.org/obo/MONDO_0004081 bile duct clear cell carcinoma|clear cell bile duct adenocarcinoma|clear cell adenocarcinoma of the bile duct|clear cell adenocarcinoma of bile duct|bile duct clear cell adenocarcinoma|extrahepatic bile duct clear cell adenocarcinoma MONDO:0004080 glottis squamous cell carcinoma biolink:Disease mondo UMLS:C0280325|DOID:7031|NCIT:C8186 A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom. UMLS:C0280325|DOID:7031|NCIT:C8186 http://purl.obolibrary.org/obo/MONDO_0004080 epidermoid carcinoma of glottis|glottis epidermoid carcinoma|glottic squamous cell carcinoma|glottic epidermoid carcinoma|squamous cell carcinoma of glottis|squamous cell carcinoma of the glottis|glottis squamous cell carcinoma|epidermoid carcinoma of the glottis MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma biolink:Disease mondo UMLS:C0334260|DOID:7039|SCTID:403886007|ICDO:8096/0|EFO:1001841|NCIT:C4110|UMLS:C2937231 A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells. SNOMEDCT:403886007|NCIT:C4110|UMLS:C0334260|DOID:7039|UMLS:C2937231 http://purl.obolibrary.org/obo/MONDO_0004083 Bowen's disease, clonal|intraepidermal epithelioma of Jadassohn MONDO:0004082 childhood immature teratoma of ovary biolink:Disease mondo DOID:7037|UMLS:C1332990|NCIT:C6547 An immature teratoma that arises from the ovary and occurs in children. UMLS:C1332990|NCIT:C6547|DOID:7037 http://purl.obolibrary.org/obo/MONDO_0004082 childhood ovarian immature teratoma|pediatric immature teratoma of the ovary|childhood immature ovarian teratoma|immature ovarian teratoma of childhood|pediatric ovarian immature teratoma|pediatric immature teratoma of ovary|childhood immature teratoma of the ovary|pediatric immature ovarian teratoma|pediatric immature ovarian teratoma HP:0005257 Thoracic hypoplasia biolink:PhenotypicFeature mondo UMLS:C1837482 http://purl.obolibrary.org/obo/HP_0005257 Small chest|Small thorax MONDO:0016056 isolated congenital microcephaly biolink:Disease mondo ICD10:Q02|MedDRA:10027534|Orphanet:199642|GARD:0007038 UMLS:C0025958|ORPHA:199642|MEDDRA:10027534 http://purl.obolibrary.org/obo/MONDO_0016056 ordo_malformation_syndrome MONDO:0016057 isolated encephalocele biolink:Disease mondo Orphanet:199647|ICD10:Q01.9|ICD10:Q01.8|ICD10:Q01.2|ICD10:Q01.0|GARD:0006333|MedDRA:10014617|ICD10:Q01.1 Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. ORPHA:199647|MEDDRA:10014617|MESH:D004677 http://purl.obolibrary.org/obo/MONDO_0016057 cranium bifidum|bifid cranium|craniocele|encephalocele ordo_morphological_anomaly MONDO:0016058 paroxysmal dystonia biolink:Disease mondo ICD9:333.99|Orphanet:200037|SCTID:230310003 ORPHA:200037|SNOMEDCT:230310003 http://purl.obolibrary.org/obo/MONDO_0016058 ordo_group_of_disorders MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome biolink:Disease mondo Orphanet:2003|ICD10:Q87.8|SCTID:716007007|UMLS:CN200748 Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. SNOMEDCT:716007007|ORPHA:2003|UMLS:CN200748 http://purl.obolibrary.org/obo/MONDO_0016059 Lowry-Yong syndrome ordo_malformation_syndrome MONDO:0016052 atypical autism biolink:Disease mondo ICD10:F84.1|SCTID:231536004|ICD9:299.80|MedDRA:10003747|Orphanet:199627 Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. ' SNOMEDCT:231536004|UMLS:C0338986|ORPHA:199627|MEDDRA:10003747 http://purl.obolibrary.org/obo/MONDO_0016052 ordo_disease MONDO:0016053 isolated cerebellar vermis hypoplasia biolink:Disease mondo ICD10:Q04.3|Orphanet:199630|SCTID:766709000 Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. ORPHA:199630|SNOMEDCT:766709000 http://purl.obolibrary.org/obo/MONDO_0016053 ordo_morphological_anomaly MONDO:0016054 cerebral malformation biolink:Disease mondo Orphanet:199633 ORPHA:199633 http://purl.obolibrary.org/obo/MONDO_0016054 brain malformation ordo_group_of_disorders MONDO:0016055 syndrome with corpus callosum agenesis /dysgenesis as a major feature biolink:Disease mondo UMLS:CN200739|Orphanet:199639 UMLS:CN200739|ORPHA:199639 http://purl.obolibrary.org/obo/MONDO_0016055 obsoletion_candidate|ordo_group_of_disorders MONDO:0016040 harlequin syndrome biolink:Disease mondo ICD10:G90.8|UMLS:C2029348|ICD9:705.89|GARD:0008610|Orphanet:199282|SCTID:14070001000004105|MESH:C535634 Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur. SNOMEDCT:14070001000004105|MESH:C535634|ORPHA:199282|UMLS:C2029348 http://purl.obolibrary.org/obo/MONDO_0016040 sudden onset of unilateral flushing and sweating|progressive isolated segmental anhidrosis|unilateral loss of facial flushing and sweating with contralateral anhidrosis ordo_disease|gard_rare MONDO:0004059 dentin sensitivity biolink:Disease mondo SCTID:13468005|UMLS:C0011432|MESH:D003807|DOID:698 Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli. MESH:D003807|SNOMEDCT:13468005|DOID:698|NCIT:C50778|UMLS:C0011432 http://purl.obolibrary.org/obo/MONDO_0004059 sensitive dentin MONDO:0004056 bladder papillary urothelial carcinoma biolink:Disease mondo DOID:6975|NCIT:C7383|UMLS:C1518882 An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003 DOID:6975|NCIT:C7383|UMLS:C1518882 http://purl.obolibrary.org/obo/MONDO_0004056 bladder urothelial papillary carcinoma|urothelial papillary carcinoma of the bladder|bladder papillary urothelial carcinoma|urinary bladder papillary transitional cell carcinoma HP:0032894 Seizure precipitated by febrile infection biolink:PhenotypicFeature mondo Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. http://purl.obolibrary.org/obo/HP_0032894 Fever induced seizure MONDO:0004055 acute inflammation of lacrimal passage biolink:Disease mondo ICD10:H04.3|SCTID:302900006|UMLS:C0339129|ICD9:375.3|DOID:6970 DOID:6970|UMLS:C0339129|SNOMEDCT:302900006 http://purl.obolibrary.org/obo/MONDO_0004055 MONDO:0004058 pancreatic cholera biolink:Disease mondo SCTID:39998009|DOID:6977|ICD9:259.3|NCIT:C3488 A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells. NCIT:C3488|SNOMEDCT:39998009|DOID:6977 http://purl.obolibrary.org/obo/MONDO_0004058 pancreatic WDHA syndrome|watery diarrhea with hypokalemic alkalosis|Verner-Morrison syndrome|Verner Morrison syndrome|islet cell WDHA syndrome|watery diarrhea syndrome|WDHA syndrome|WDHH|excessive vasoactive intestinal peptide secretion|watery diarrhea, hypokalemia, and achlorhydria syndrome|WDHA syndrome MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma biolink:Disease mondo NCIT:C27202|DOID:6976|EFO:0008512|UMLS:C1517579 An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003 UMLS:C1517579|DOID:6976|NCIT:C27202 http://purl.obolibrary.org/obo/MONDO_0004057 infiltrating bladder urothelial carcinoma, micropapillary variant MONDO:0004052 rectal cloacogenic carcinoma biolink:Disease mondo DOID:6959|UMLS:C1333074|NCIT:C5555 A carcinoma that arises from the transitional zone at the junction of the rectum and anus. UMLS:C1333074|DOID:6959|NCIT:C5555 http://purl.obolibrary.org/obo/MONDO_0004052 transition zone carcinoma of rectum|rectal transitional zone carcinoma|transition zone carcinoma of the rectum|cloacogenic carcinoma of rectum|cloacogenic carcinoma of the rectum|rectal transition zone carcinoma|transitional zone carcinoma of rectum|rectal cloacogenic carcinoma|transitional zone carcinoma of the rectum NCBITaxon:1463974 Cryptostroma organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1463974 MONDO:0004051 aleukemic monocytic leukemia cutis biolink:Disease mondo DOID:6958|NCIT:C5630|UMLS:C1332232 UMLS:C1332232|DOID:6958|NCIT:C5630 http://purl.obolibrary.org/obo/MONDO_0004051 aleukemic monocytic leukemia cutis MONDO:0004054 acute canaliculitis biolink:Disease mondo DOID:6969|ICD9:375.31|UMLS:C0339130|SCTID:84399007|COHD:436414|ICD10:H04.33 UMLS:C0339130|DOID:6969|SNOMEDCT:84399007 http://purl.obolibrary.org/obo/MONDO_0004054 acute canaliculitis, lacrimal|acute lacrimal canaliculitis NCBITaxon:1463975 Cryptostroma corticale organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1463975 Coniosporium corticale HP:0032892 Infection-related seizure biolink:PhenotypicFeature mondo Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. http://purl.obolibrary.org/obo/HP_0032892 MONDO:0004053 bartholin gland squamous cell carcinoma biolink:Disease mondo EFO:1000104|NCIT:C40293|DOID:6961|UMLS:C1511052 A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells. NCIT:C40293|DOID:6961|UMLS:C1511052 http://purl.obolibrary.org/obo/MONDO_0004053 Bartholin's gland squamous cell carcinoma|major vestibular gland squamous cell carcinoma|bartholin gland squamous cell carcinoma HGNC:26190 MTMR14 biolink:OntologyClass mondo http://identifiers.org/hgnc/26190 MONDO:0004050 telangiectatic osteogenic sarcoma biolink:Disease mondo ONCOTREE:TEOS|UMLS:C0259782|NCIT:C3902|DOID:6951|ICDO:9183/3 An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma. NCIT:C3902|DOID:6951|UMLS:C0259782 http://purl.obolibrary.org/obo/MONDO_0004050 telangiectatic osteosarcoma (morphologic abnormality)|telangiectatic osteosarcoma|TEOS|malignant bone aneurysm MONDO:0016049 congenital myopathy, Paradas type biolink:Disease mondo Orphanet:199329|ICD10:G71.2 Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. ORPHA:199329 http://purl.obolibrary.org/obo/MONDO_0016049 ordo_disease HP:0030236 Abnormality of muscle size biolink:PhenotypicFeature mondo UMLS:C4022563 Abnormalities of the overall muscle bulk based on clinical observation. http://purl.obolibrary.org/obo/HP_0030236 Abnormality of muscle size HGNC:26193 CSPP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26193 MONDO:0016045 tetragametic chimerism biolink:Disease mondo ICD10:Q99.0|UMLS:CN200724|Orphanet:199310 Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. UMLS:CN200724|ORPHA:199310 http://purl.obolibrary.org/obo/MONDO_0016045 46,XX/46,XY chimerism ordo_malformation_syndrome MONDO:0016046 familial clubfoot with or without associated lower limb anomalies biolink:Disease mondo Orphanet:199315|ICD10:Q66.8|UMLS:CN200725 Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly. UMLS:CN200725|ORPHA:199315 http://purl.obolibrary.org/obo/MONDO_0016046 ordo_malformation_syndrome MONDO:0016047 endophthalmitis biolink:Disease mondo COHD:438411|UMLS:C0014236|NCIT:C34586|MESH:D009877|Orphanet:199323|ICD9:360.19|ICD10:H44.1|SCTID:1847009|ICD10:H44.0|MedDRA:10014801|DOID:4692 An infectious process affecting the internal structures of the eye. MEDDRA:10014801|SNOMEDCT:1847009|UMLS:C0014236|NCIT:C34586|MESH:D009877|DOID:4692|ORPHA:199323 http://purl.obolibrary.org/obo/MONDO_0016047 ordo_disease MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type biolink:Disease mondo ICD10:E83.4|Orphanet:199326|SCTID:722008003|UMLS:CN200728 Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. UMLS:CN200728|ORPHA:199326|SNOMEDCT:722008003 http://purl.obolibrary.org/obo/MONDO_0016048 ordo_disease MONDO:0016041 congenital microgastria biolink:Disease mondo ICD10:Q40.2|SCTID:83714006|ICD9:750.7|Orphanet:199293 Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies. UMLS:C0266150|SNOMEDCT:83714006|ORPHA:199293 http://purl.obolibrary.org/obo/MONDO_0016041 ordo_morphological_anomaly MONDO:0016042 late-onset isolated ACTH deficiency biolink:Disease mondo ICD10:E23.6|Orphanet:199299 Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. ORPHA:199299 http://purl.obolibrary.org/obo/MONDO_0016042 ordo_disease MONDO:0016043 isolated cleft lip biolink:Disease mondo Orphanet:199302|MedDRA:10009259|ICD10:Q36.9|ICD10:Q36.1|ICD10:Q36.0 Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base. UMLS:C0008924|ORPHA:199302|MEDDRA:10009259 http://purl.obolibrary.org/obo/MONDO_0016043 nonsyndromic cleft lip (disease)|isolated cleft lip (disease) ordo_morphological_anomaly MONDO:0016044 cleft lip/palate biolink:Disease mondo Orphanet:199306|MedDRA:10009260|ICD10:Q37.5|ICD10:Q37.4|ICD10:Q37.3|ICD10:Q37.2|ICD10:Q37.1|ICD10:Q37.0|ICD9:749.25|ICD9:749.20|SCTID:66948001|ICD10:Q37.9|ICD10:Q37.8 Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. SNOMEDCT:66948001|UMLS:C0158646|ORPHA:199306|MEDDRA:10009260 http://purl.obolibrary.org/obo/MONDO_0016044 alveolar cleft lip and palate|FLP|cleft lip and palate|cleft lip-alveolus-palate syndrome ordo_morphological_anomaly CHEBI:71300 EC 2.* (transferase) inhibitor biolink:ChemicalSubstance mondo An enzyme inhibitor that inhibits the action of a transferase (EC 2.*) http://purl.obolibrary.org/obo/CHEBI_71300 EC 2 inhibitor|EC 2 inhibitors|EC 2.* inhibitor|EC 2.* (transferase) inhibitors|transferase inhibitor|transferase inhibitors|EC 2.* inhibitors MONDO:0018691 obsolete endometrioid carcinoma of ovary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018691 MONDO:0018690 Holmes-Adie syndrome biolink:Disease mondo DOID:11549|GARD:0005749|MESH:D000270|UMLS:C0001519|ICD10:H57.0|EFO:0004126|OMIM:103100|SCTID:24225004|NCIT:C34357|Orphanet:454718 A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye. MESH:D000270|ORPHA:454718|UMLS:C0001519|NCIT:C34357|DOID:11549|http://identifiers.org/omim/103100|SNOMEDCT:24225004 http://purl.obolibrary.org/obo/MONDO_0018690 Adie pupil|Adie's pupil syndrome|Holmes-Adie syndrome|Adie's syndrome|tonic pupil|Adie's pupil|tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes|poorly Reacting pupils|Adie syndrome|tonic pupil-tendon areflexia syndrome|Adie's pupil or syndrome ordo_disease MONDO:0004067 gallbladder mucinous adenocarcinoma biolink:Disease mondo DOID:6998|NCIT:C5744|UMLS:C1333750 An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. UMLS:C1333750|DOID:6998|NCIT:C5744 http://purl.obolibrary.org/obo/MONDO_0004067 gall bladder mucinous adenocarcinoma|colloidal carcinoma of the gallbladder|colloidal carcinoma of gallbladder|gallbladder mucinous adenocarcinoma|gallbladder colloid carcinoma|mucinous carcinoma of the gallbladder|mucinous carcinoma of gallbladder|colloid carcinoma of the gallbladder|colloid carcinoma of gallbladder|gallbladder colloidal carcinoma|gallbladder mucinous carcinoma MONDO:0004066 intermediate cell type ciliary body melanoma biolink:Disease mondo UMLS:C1334209|DOID:6997|NCIT:C6118 Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. DOID:6997|NCIT:C6118|UMLS:C1334209 http://purl.obolibrary.org/obo/MONDO_0004066 ciliary body intermediate cell type uveal melanoma|Intermediate cell type ciliary body melanoma|intermediate cell type uveal melanoma of ciliary body MONDO:0004069 inborn mitochondrial metabolism disorder biolink:Disease mondo Orphanet:68380|DOID:700|MESH:D028361|GARD:0007048 Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. MESH:D028361|ORPHA:68380|DOID:700|UMLS:C0751651 http://purl.obolibrary.org/obo/MONDO_0004069 mitochondrial genetic disorders|mitochondrial metabolism disease|mitochondrial disease gard_rare|ordo_group_of_disorders MONDO:0004068 obsolete disease of anatomical entity biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004068 MONDO:0004063 intermediate cell type iris melanoma biolink:Disease mondo UMLS:C1334210|NCIT:C6101|DOID:6993 Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. DOID:6993|NCIT:C6101|UMLS:C1334210 http://purl.obolibrary.org/obo/MONDO_0004063 intermediate cell type uveal melanoma of iris|Intermediate cell type iris melanoma|iris mixed cell melanoma|iris intermediate cell type uveal melanoma MONDO:0041052 postherpetic neuralgia biolink:Disease mondo SCTID:2177002|UMLS:C0032768 UMLS:C0032768|SNOMEDCT:2177002 http://purl.obolibrary.org/obo/MONDO_0041052 postherpetic neuralgia|PHN - post-herpetic neuralgia|post-zoster neuralgia OBO:mondo#part_of_progression_of_disease part of progression of disease biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease MONDO:0004062 intermediate cell type uveal melanoma biolink:Disease mondo UMLS:C0279693|DOID:6992|NCIT:C7989 Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. UMLS:C0279693|DOID:6992|NCIT:C7989 http://purl.obolibrary.org/obo/MONDO_0004062 intraocular mixed cell type melanoma|mixed cell type uveal melanoma|Intermediate cell type intraocular melanoma|Intermediate cell type uveal melanoma MONDO:0004065 intermediate cell type choroid melanoma biolink:Disease mondo NCIT:C6100|DOID:6996|UMLS:C1334208 Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. DOID:6996|NCIT:C6100|UMLS:C1334208 http://purl.obolibrary.org/obo/MONDO_0004065 optic choroid intermediate cell type uveal melanoma|intermediate cell type uveal melanoma of optic choroid|Intermediate cell type choroid melanoma|mixed cell melanoma of choroid MONDO:0004064 iris melanoma biolink:Disease mondo UMLS:CN204945|NCIT:C9088|DOID:6994|SCTID:255012009 A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi. NCIT:C9088|DOID:6994|SNOMEDCT:255012009|UMLS:CN204945 http://purl.obolibrary.org/obo/MONDO_0004064 melanoma (disease) of iris|iris malignant melanoma|iris melanoma|malignant melanoma of iris|malignant melanoma of the iris|melanoma of iris|melanoma of the iris|malignant iris melanoma|iris melanoma (disease) MONDO:0004061 obsolete mitochondrial myopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004061 MONDO:0004060 peripheral epithelioid sarcoma biolink:Disease mondo NCIT:C27473|DOID:6988|UMLS:C1333306 An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain. DOID:6988|NCIT:C27473|UMLS:C1333306 http://purl.obolibrary.org/obo/MONDO_0004060 conventional epithelioid sarcoma|distal-type epithelioid sarcoma MONDO:0016038 calcified aponeurotic fibroma biolink:Disease mondo Orphanet:199260|SCTID:703614006|ICD10:M72.8|NCIT:C4818|UMLS:C0553647 A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells. NCIT:C4818|SNOMEDCT:703614006|UMLS:C0553647|ORPHA:199260 http://purl.obolibrary.org/obo/MONDO_0016038 Keasby tumor|juvenile aponeurotic fibromatosis|Juvenile aponeurotic fibroma|Juvenile aponeurotic fibrosis|calcifying aponeurotic fibroma ordo_disease MONDO:0016039 infantile digital fibromatosis biolink:Disease mondo GARD:0008487|ICD10:M72.8|ICD9:238.8|UMLS:C1318562|Orphanet:199267|SCTID:399903008 SNOMEDCT:399903008|UMLS:C1318562|ORPHA:199267 http://purl.obolibrary.org/obo/MONDO_0016039 Reye tumor|inclusion body fibromatosis|asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes|recurring digital fibrous tumor of childhood|IDF gard_rare|ordo_disease MONDO:0018697 1p35.2 microdeletion syndrome biolink:Disease mondo UMLS:CN237766|ICD10:Q93.5|Orphanet:456298 ORPHA:456298|UMLS:CN237766 http://purl.obolibrary.org/obo/MONDO_0018697 monosomy 1p35.2|deletion 1p35.2|Del(1)(p35.2) ordo_malformation_syndrome MONDO:0016034 cleft lip with or without cleft palate biolink:Disease mondo ICD10:Q37.9|ICD10:Q36.9|ICD10:Q37.8|ICD10:Q37.5|ICD10:Q37.4|ICD10:Q37.3|ICD10:Q37.2|ICD10:Q37.1|ICD10:Q36.1|ICD10:Q37.0|ICD10:Q36.0|Orphanet:1991 ORPHA:1991|UMLS:C0008924 http://purl.obolibrary.org/obo/MONDO_0016034 Tessier cleft number 1,2 ordo_group_of_disorders GO:0033578 protein glycosylation in Golgi biolink:OntologyClass mondo The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. http://purl.obolibrary.org/obo/GO_0033578 terminal glycosylation|protein amino acid glycosylation in Golgi MONDO:0016035 Nelson syndrome biolink:Disease mondo MedDRA:10028913|ICD10:E24.1|DOID:4968|UMLS:C0027577|MESH:C531754|SCTID:43019009|NCIT:C84917|GARD:0007170|Orphanet:199244|MESH:D009347 A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation. SNOMEDCT:43019009|NCIT:C84917|MESH:C531754|UMLS:C0027577|MESH:D009347|ORPHA:199244|DOID:4968|MEDDRA:10028913 http://purl.obolibrary.org/obo/MONDO_0016035 dermal Ridges|Nelson's syndrome|Ridges-off-the-end syndrome ordo_disease|gard_rare MONDO:0018696 corticobasal syndrome biolink:Disease mondo ICD10:G31.0|Orphanet:454887|UMLS:CN237765 Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. ORPHA:454887|UMLS:CN237765 http://purl.obolibrary.org/obo/MONDO_0018696 ordo_disease MONDO:0016036 Ledderhose disease biolink:Disease mondo MedDRA:10035154|MESH:C537000|ICD10:M72.2|GARD:0006873|Orphanet:199251 Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences. MESH:C537000|MEDDRA:10035154|UMLS:C0158360|ORPHA:199251 http://purl.obolibrary.org/obo/MONDO_0016036 plantar fibromatosis|Lederhose disease ordo_disease|gard_rare GO:0033576 protein glycosylation in cytosol biolink:OntologyClass mondo The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the cytosol. http://purl.obolibrary.org/obo/GO_0033576 protein amino acid glycosylation in cytosol MONDO:0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy biolink:Disease mondo Orphanet:457059 ORPHA:457059 http://purl.obolibrary.org/obo/MONDO_0018699 ordo_group_of_disorders MONDO:0018698 hereditary neuroendocrine tumor of small intestine biolink:Disease mondo UMLS:CN847586|Orphanet:456333|UMLS:CN237770 An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome. ORPHA:456333|UMLS:CN847586|UMLS:CN237770 http://purl.obolibrary.org/obo/MONDO_0018698 hereditary neuroendocrine tumor of small bowel|hereditary neuroendocrine tumor of the small intestine|hereditary small intestine neuroendocrine neoplasm ordo_disease MONDO:0016037 superficial Fibromatosis biolink:Disease mondo SCTID:238853007|ICD9:729.99|NCIT:C6814|EFO:1000556|ICD10:M72.8|Orphanet:199257|UMLS:C0406571 A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. SNOMEDCT:238853007|NCIT:C6814|UMLS:C0406571|ORPHA:199257 http://purl.obolibrary.org/obo/MONDO_0016037 superficial Fibromatosis ordo_group_of_disorders MONDO:0016030 Evans syndrome biolink:Disease mondo NCIT:C61284|MESH:C536380|UMLS:C0272126|ICD10:D69.41|COHD:436956|SCTID:75331009|ICD10:D69.3|DOID:8931|ICD9:287.32|GARD:0006389|Orphanet:1959|MedDRA:10053873 Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology. DOID:8931|MEDDRA:10053873|MESH:C536380|ORPHA:1959|NCIT:C61284|SNOMEDCT:75331009|UMLS:C0272126 http://purl.obolibrary.org/obo/MONDO_0016030 Evans' syndrome|immune pancytopenia|Evan syndrome|autoimmune hemolytic anemia and autoimmune thrombocytopenia gard_rare|ordo_disease MONDO:0018693 obsolete kuru biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018693 MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome biolink:Disease mondo GARD:0002221|UMLS:C2931183|MESH:C536384|ICD10:Q87.0|Orphanet:1969 MESH:C536384|ORPHA:1969|UMLS:C2931183 http://purl.obolibrary.org/obo/MONDO_0016031 Friedman-Goodman syndrome|facial features (unique), anorexia, cachexia, eye and skin anomalies|faces syndrome ordo_malformation_syndrome MONDO:0018692 variably protease-sensitive prionopathy biolink:Disease mondo SCTID:721165001|Orphanet:454742|UMLS:C4303527|ICD10:A81.8 SNOMEDCT:721165001|ORPHA:454742|UMLS:C4303527 http://purl.obolibrary.org/obo/MONDO_0018692 ordo_disease MONDO:0018695 avian influenza biolink:Disease mondo UMLS:C0016627|Orphanet:454836|COHD:314979|ICD10:J09.X|UMLS:CN237762|ICD10:J09|EFO:0005222|MESH:D005585|SCTID:55604004|DOID:4492 Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry. SNOMEDCT:55604004|UMLS:C0016627|ORPHA:454836|DOID:4492|UMLS:CN237762|MESH:D005585 http://purl.obolibrary.org/obo/MONDO_0018695 avian flu|bird flu ordo_disease MONDO:0016032 femoral agenesis/hypoplasia biolink:Disease mondo GARD:0001503|SCTID:93255008|Orphanet:1987|ICD10:Q72.4|ICD9:755.34 Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur. UMLS:C0345375|ORPHA:1987|SNOMEDCT:93255008 http://purl.obolibrary.org/obo/MONDO_0016032 congenital short femur|femoral intercalary meromelia ordo_malformation_syndrome MONDO:0016033 Cornelia de Lange syndrome biolink:Disease mondo UMLS:CN239271|MedDRA:10056354|DOID:11725|ICD10:Q87.1|Orphanet:199|NCIT:C75016|OMIMPS:122470|GARD:0010109|UMLS:C0270972 A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. DOID:11725|MESH:D003635|UMLS:CN239271|ORPHA:199|NCIT:C75016|UMLS:C0270972|MEDDRA:10056354 http://purl.obolibrary.org/obo/MONDO_0016033 De Lange syndrome|Brachmann de Lange syndrome|CDLS|Brachmann-de Lange syndrome ordo_malformation_syndrome MONDO:0018694 isolated tracheo-esophageal fistula biolink:Disease mondo Orphanet:454750|ICD10:Q39.2|NCIT:C35080 A congenital or acquired abnormal communication between the trachea and the esophagus. NCIT:C35080|ORPHA:454750 http://purl.obolibrary.org/obo/MONDO_0018694 tracheo-esophageal fistula|tracheoesophageal fistula|isolated tracheoesophageal fistula|tracheoesophageal fistula|H-type tracheoesophageal fistula ordo_morphological_anomaly HGNC:14198 ELAC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14198 MONDO:0016092 serous or mucinous cystadenoma of childhood biolink:Disease mondo ICD10:D27|Orphanet:206470 Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. ORPHA:206470 http://purl.obolibrary.org/obo/MONDO_0016092 mucinous cystadenoma of ovary in childhood|serous cystadenoma of ovary in childhood ordo_disease MONDO:0016093 borderline epithelial tumor of ovary biolink:Disease mondo EFO:1000140|ICD10:C56|UMLS:C3665489|Orphanet:206473|GARD:0009363|NCIT:C4783|SCTID:764791008 A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion. ORPHA:206473|NCIT:C4783|UMLS:C3665489|SNOMEDCT:764791008 http://purl.obolibrary.org/obo/MONDO_0016093 ovarian tumors of low malignant potential|ovarian borderline malignant tumor|ovarian tum. of low malig. poten.|borderline epithelial tumor of the ovary|borderline epithelial tumor of ovary|low malignant potential ovarian tumor|ovarian low malignant potential tumor|borderline epithelial neoplasm of the ovary|borderline ovarian surface epithelial-stromal tumor|borderline epithelial neoplasm of ovary|epithelial ovarian tumor of borderline malignancy|borderline ovarian epithelial neoplasm|borderline ovarian epithelial tumor|ovarian tumor of low malignant potential|epithelial neoplasm of ovary of borderline malignancy|epithelial neoplasm of the ovary of borderline malignancy|epithelial tumor of ovary of borderline malignancy|epithelial ovarian neoplasm of borderline malignancy|epithelial tumor of the ovary of borderline malignancy ordo_disease MONDO:0016094 vaginal germ cell malignant tumor biolink:Disease mondo Orphanet:206489|UMLS:CN200860|ICD10:C52 A malignant germ cell tumor that involves the vagina. ORPHA:206489|UMLS:CN200860 http://purl.obolibrary.org/obo/MONDO_0016094 vaginal germ cell cancer|malignant germ cell tumor of the vagina|vagina malignant germ cell tumor ordo_disease MONDO:0016095 vaginal rhabdomyosarcoma biolink:Disease mondo UMLS:C4288035|NCIT:C128080|SCTID:766759009|Orphanet:206492|ICD10:C52 A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina. ORPHA:206492|UMLS:C4288035|SNOMEDCT:766759009|NCIT:C128080 http://purl.obolibrary.org/obo/MONDO_0016095 vagina rhabdomyosarcoma (disease)|vagina rhabdomyosarcoma|vulvovaginal rhabdomyosarcoma|rhabdomyosarcoma (disease) of vagina|vaginal rhabdomyosarcoma ordo_disease NCBITaxon:45709 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_45709 MONDO:0016090 late-infantile/juvenile Krabbe disease biolink:Disease mondo Orphanet:206443|UMLS:CN200855|ICD10:E75.2|SCTID:41142009 ORPHA:206443|SNOMEDCT:41142009|UMLS:CN200855 http://purl.obolibrary.org/obo/MONDO_0016090 Krabbe disease, late-onset ordo_clinical_subtype MONDO:0016091 adult Krabbe disease biolink:Disease mondo ICD10:E75.2|UMLS:CN200856|Orphanet:206448 A Krabbe disease that occurs in an adult. ORPHA:206448|UMLS:C0268252|UMLS:CN200856 http://purl.obolibrary.org/obo/MONDO_0016091 Krabbe disease of adults ordo_clinical_subtype MONDO:0043653 herpes labialis biolink:Disease mondo NCIT:C34695|SCTID:1475003|MESH:D006560|UMLS:C0019345|EFO:1001347 A lesion caused by type 1 or type 2 herpes simplex virus, involving the oralfacial region. NCIT:C34695|SNOMEDCT:1475003|UMLS:C0019345|MESH:D006560 http://purl.obolibrary.org/obo/MONDO_0043653 blister, fever|fever blisters|cold Sore|fever blister|herpes simplex labialis|Sores, cold|herpes labialis|Herpes simplex, labial|blisters, fever|labial Herpes simplex|cold Sores|Sore, cold|cold sores HGNC:26182 COLGALT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26182 GO:0033554 cellular response to stress biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/GO_0033554 MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary biolink:Disease mondo ICD10:C56|UMLS:CN200863|NCIT:C102870|UMLS:C3640983|Orphanet:206538 A malignant germ cell tumor other than dysgerminoma that arises from the ovary. NCIT:C102870|ORPHA:206538|UMLS:C3640983|UMLS:CN200863 http://purl.obolibrary.org/obo/MONDO_0016096 ovarian Nondysgerminomatous germ cell tumor|non-dysgerminomatous germ cell cancer of ovary|ovarian nondysgerminomatous germ cell tumor, NOS|ovarian nondysgerm. GCT, NOS|ovarian non-dysgerminomatous germ cell tumor ordo_disease HP:0005293 Venous insufficiency biolink:PhenotypicFeature mondo MSH:D014689|UMLS:C0042485|SNOMEDCT_US:20696009 http://purl.obolibrary.org/obo/HP_0005293 Poorly functioning veins MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers biolink:Disease mondo SCTID:765197008|Orphanet:206546|ICD10:G71.0|UMLS:CN200864 Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. UMLS:CN200864|ORPHA:206546|SNOMEDCT:765197008 http://purl.obolibrary.org/obo/MONDO_0016097 ordo_disease MONDO:0016098 immune-mediated necrotizing myopathy biolink:Disease mondo Orphanet:206569|GARD:0013307|SCTID:715863001|ICD10:G72.4 Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation. ORPHA:206569|SNOMEDCT:715863001 http://purl.obolibrary.org/obo/MONDO_0016098 autoimmune necrotizing myositis|anti-SRP myopathy|necrotizing autoimmune myopathy|NAM|anti-HMG-CoA myopathy|immune myopathy with myocyte necrosis|IMNM ordo_disease MONDO:0016099 overlap myositis biolink:Disease mondo Orphanet:206572 Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature. ORPHA:206572 http://purl.obolibrary.org/obo/MONDO_0016099 non-specific myositis|adult-onset overlap myositis ordo_disease MONDO:0016081 coronary arterial fistulas biolink:Disease mondo ICD10:Q24.5|Orphanet:2041|GARD:0001533|MedDRA:10069441 Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. MEDDRA:10069441|ORPHA:2041|UMLS:C0265898 http://purl.obolibrary.org/obo/MONDO_0016081 Coronaro-cardiac fistula|coronary arterial malformations ordo_morphological_anomaly MONDO:0016082 obsolete tracheo-esophageal fistula-hypospadias syndrome biolink:Disease mondo Orphanet:2042|UMLS:CN226834|ICD10:Q87.8 ORPHA:2042|UMLS:CN226834 http://purl.obolibrary.org/obo/MONDO_0016082 MONDO:0016083 FLOTCH syndrome biolink:Disease mondo Orphanet:2045|MESH:C537065|UMLS:C2931411|ICD10:L60.8|GARD:0002346 FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. UMLS:C2931411|ORPHA:2045|MESH:C537065 http://purl.obolibrary.org/obo/MONDO_0016083 leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome|familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity ordo_disease|gard_rare MONDO:0016084 obsolete Crigler-Najjar syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016084 MONDO:0016080 congenital bronchobiliary fistula biolink:Disease mondo GARD:0001475|ICD10:Q32.4|Orphanet:2040|SCTID:719452004 Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. SNOMEDCT:719452004|ORPHA:2040 http://purl.obolibrary.org/obo/MONDO_0016080 ordo_morphological_anomaly|gard_rare MONDO:0004099 adult cystic teratoma biolink:Disease mondo DOID:7079|UMLS:C1368888|NCIT:C9012 A cystic teratoma that occurs in an adult. UMLS:C1368888|DOID:7079|NCIT:C9012 http://purl.obolibrary.org/obo/MONDO_0004099 cystic teratoma of adults|adult cystic teratoma MONDO:0004096 spinal cord dermoid cyst biolink:Disease mondo UMLS:C1333278|NCIT:C6808|DOID:7071 A dermoid cyst that involves the spinal cord. NCIT:C6808|DOID:7071|UMLS:C1333278 http://purl.obolibrary.org/obo/MONDO_0004096 dermoid cyst of the spinal cord|dermoid cyst of spinal cord|spinal cord dermoid|spinal cord dermoid cyst MONDO:0004095 B-cell neoplasm biolink:Disease mondo GARD:0005877|NCIT:C27907|DOID:707|MESH:D016393 A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. DOID:707|NCIT:C27907|MESH:D016393 http://purl.obolibrary.org/obo/MONDO_0004095 B-cell lymphocytic neoplasm|B-cell neoplasm|lymphoma, B-cell|B-cell lymphoma gard_rare HGNC:26158 ELMOD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/26158 MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum biolink:Disease mondo NCIT:C6630|UMLS:C1334600|DOID:7077 A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin. NCIT:C6630|DOID:7077|UMLS:C1334600 http://purl.obolibrary.org/obo/MONDO_0004098 malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum|malignant melanocytic peripheral nerve sheath tumor of mediastinum|mediastinal melanocytic MPNST|mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanotic peripheral nerve sheath tumor of the mediastinum|malignant mediastinal melanocytic peripheral nerve sheath tumor MONDO:0004097 obsolete lipid-rich breast carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004097 MONDO:0004092 thymic basaloid carcinoma biolink:Disease mondo UMLS:C1332464|NCIT:C6456|DOID:7050 A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases. NCIT:C6456|DOID:7050|UMLS:C1332464 http://purl.obolibrary.org/obo/MONDO_0004092 Thymus basaloid carcinoma|basaloid carcinoma of the Thymus|basaloid carcinoma of Thymus|thymic basaloid carcinoma|thymus basaloid squamous cell carcinoma MONDO:0004091 skin basaloid carcinoma biolink:Disease mondo DOID:7049|NCIT:C27543|UMLS:C1335973 A basaloid squamous cell carcinoma that involves the zone of skin. NCIT:C27543|DOID:7049|UMLS:C1335973 http://purl.obolibrary.org/obo/MONDO_0004091 skin basaloid squamous cell carcinoma|skin basaloid carcinoma|basaloid skin squamous cell carcinoma|zone of skin basaloid squamous cell carcinoma|basaloid squamous cell skin carcinoma MONDO:0004094 multiple skull base meningioma biolink:Disease mondo NCIT:C5279|DOID:7054|UMLS:C1334829 Multiple meningiomas that affect the skull base. NCIT:C5279|DOID:7054|UMLS:C1334829 http://purl.obolibrary.org/obo/MONDO_0004094 multiple skull base meningiomas MONDO:0004093 esophageal basaloid carcinoma biolink:Disease mondo NCIT:C7032|DOID:7051|UMLS:C1333443 A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO) NCIT:C7032|DOID:7051|UMLS:C1333443 http://purl.obolibrary.org/obo/MONDO_0004093 esophageal basaloid squamous cell carcinoma|esophageal basaloid carcinoma|basaloid squamous carcinoma of esophagus|esophageal basaloid cancer|basaloid squamous carcinoma of the esophagus HP:0005268 Spontaneous abortion biolink:PhenotypicFeature mondo SNOMEDCT_US:17369002|UMLS:C0000786|MSH:D000022 A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. http://purl.obolibrary.org/obo/HP_0005268 Miscarriage MONDO:0004090 vulvar basaloid squamous cell carcinoma biolink:Disease mondo DOID:7048|UMLS:C2211850|NCIT:C40286 A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm. UMLS:C2211850|DOID:7048|NCIT:C40286 http://purl.obolibrary.org/obo/MONDO_0004090 vulvar basaloid carcinoma|vulvar basaloid squamous cell carcinoma NCBITaxon:200643 Bacteroidia organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_200643 Bacteroidetes MONDO:0016089 infantile Krabbe disease biolink:Disease mondo SCTID:238030005|Orphanet:206436|ICD10:E75.2 SNOMEDCT:238030005|UMLS:C0751273|ORPHA:206436 http://purl.obolibrary.org/obo/MONDO_0016089 Krabbe disease, early-onset|Krabbe disease, classic form ordo_clinical_subtype MONDO:0016085 Cole-Carpenter syndrome biolink:Disease mondo ICD10:Q78.0|OMIMPS:112240|MESH:C535963|UMLS:C1862178|NCIT:C130985|GARD:0001425|DOID:0060438|Orphanet:2050 Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). DOID:0060438|MESH:C535963|NCIT:C130985|UMLS:C1862178|ORPHA:2050 http://purl.obolibrary.org/obo/MONDO_0016085 bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|Cole Carpenter syndrome ordo_malformation_syndrome MONDO:0016086 osteochondritis of tarsal/metatarsal bone biolink:Disease mondo UMLS:C0158444|Orphanet:2054|GARD:0006842|ICD9:732.5|SCTID:203392007|ICD10:M93.2|DOID:11760|UMLS:CN200840|COHD:435903 Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone UMLS:CN200840|DOID:11760|SNOMEDCT:203392007|ORPHA:2054|UMLS:C0158444 http://purl.obolibrary.org/obo/MONDO_0016086 Kohler's disease of the tarsal navicular|Kohler's Osteochondrosis of the tarsal navicular|osteochondritis of tarsal/metatarsal bone|navicular Osteochondrosis|juvenile osteochondrosis of foot|Kohler's disease|Osteochondrosis of the tarsal bone|Kohler disease|aseptic necrosis of the tarsal bone ordo_disease|gard_rare MONDO:0016087 progressive non-infectious anterior vertebral fusion biolink:Disease mondo UMLS:C4304839|Orphanet:2062|ICD10:Q87.8|SCTID:719268008|UMLS:CN200850 Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. UMLS:CN200850|UMLS:C4304839|SNOMEDCT:719268008|ORPHA:2062 http://purl.obolibrary.org/obo/MONDO_0016087 Copenhagen syndrome ordo_malformation_syndrome HP:0005262 Abnormality of the synovia biolink:PhenotypicFeature mondo UMLS:C4025225 http://purl.obolibrary.org/obo/HP_0005262 MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency biolink:Disease mondo Orphanet:206428|ICD9:277.6|GARD:0002943|ICD10:E79.8|SCTID:124275001 Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. ORPHA:206428|SNOMEDCT:124275001 http://purl.obolibrary.org/obo/MONDO_0016088 HPRT1 deficiency|HPRT deficiency|hypoxanthine-guanine phosphoribosyltransferase 1 deficiency ordo_group_of_disorders MONDO:0016070 hereditary gingival fibromatosis biolink:Disease mondo ICD10:K06.1|UMLS:C0399440|Orphanet:2024|OMIMPS:135300|SCTID:109620006|DOID:0060466 Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. DOID:0060466|ORPHA:2024|SNOMEDCT:109620006|UMLS:C0399440 http://purl.obolibrary.org/obo/MONDO_0016070 hereditary gingival hyperplasia|hereditary gingival fibromatosis|autosomal dominant gingival hyperplasia|autosomal dominant gingival fibromatosis ordo_malformation_syndrome MONDO:0016071 juvenile hyaline fibromatosis biolink:Disease mondo SCTID:238861002|ICD9:733.29|NCIT:C98297|ICD10:M72.8|Orphanet:2028 Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis. NCIT:C98297|ORPHA:2028|MESH:D057770|UMLS:C0406578|SNOMEDCT:238861002 http://purl.obolibrary.org/obo/MONDO_0016071 Molluscum fibrosum|Murray-Puretic-Drescher syndrome|mesenchymal dysplasia|Puretic syndrome ordo_disease MONDO:0016072 anomaly of puberty or/and menstrual cycle of genetic origin biolink:Disease mondo Orphanet:202940 An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome. ORPHA:202940 http://purl.obolibrary.org/obo/MONDO_0016072 genetic anomaly of puberty or/and menstrual cycle ordo_group_of_disorders MONDO:0016073 syndromic microphthalmia biolink:Disease mondo OMIMPS:309800|DC:0000280|Orphanet:202948|UMLS:CN226833 A microphthalmia that is part of a larger syndrome. UMLS:CN226833|ORPHA:202948 http://purl.obolibrary.org/obo/MONDO_0016073 syndromic microphthalmia|syndrome associated with microphthalmia|syndrome associated with microphthalmia|microphthalmia, syndromic ordo_group_of_disorders HGNC:26169 CTC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26169 HGNC:26162 PYROXD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26162 MONDO:0041008 obsolete contact dermatitis caused by poison oak biolink:Disease mondo SCTID:200824008|UMLS:C0263283 SNOMEDCT:200824008|UMLS:C0263283 http://purl.obolibrary.org/obo/MONDO_0041008 contact dermatitis caused by poison oak|contact dermatitis due to poison oak MONDO:0016078 congenital systemic arteriovenous fistula biolink:Disease mondo Orphanet:2039|ICD10:Q27.3 ORPHA:2039 http://purl.obolibrary.org/obo/MONDO_0016078 ordo_morphological_anomaly MONDO:0016079 sporadic Creutzfeldt-Jakob disease biolink:Disease mondo MedDRA:10011384|SCTID:713060000|Orphanet:204|ICD9:046.19|ICD10:A81.0 Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD). ORPHA:204|SNOMEDCT:713060000|UMLS:C0022336|MEDDRA:10011384 http://purl.obolibrary.org/obo/MONDO_0016079 sporadic CJD ordo_disease MONDO:0016074 obsolete fibrosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016074 MONDO:0016075 filariasis biolink:Disease mondo MedDRA:10016674|ICD10:B74.0|NCIT:C34611|ICD9:125.9|MESH:D005368|Orphanet:2034|UMLS:C0016085|ICD10:B74.8|SCTID:105706003|ICD10:B74.9|DOID:1080|ICD10:B74.4|ICD10:B74.3|ICD10:B74|ICD10:B74.2|ICD10:B74.1 A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation. NCIT:C34611|MEDDRA:10016674|DOID:1080|MESH:D005368|UMLS:C0016085|SNOMEDCT:105706003|ORPHA:2034 http://purl.obolibrary.org/obo/MONDO_0016075 disease due to superfamily Filarioidea ordo_group_of_disorders MONDO:0016076 obsolete lymphatic filariasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016076 MONDO:0016077 congenital aortopulmonary window biolink:Disease mondo Orphanet:2037|MESH:C537782|UMLS:C2931610|GARD:0000738|ICD10:Q21.4 MESH:C537782|UMLS:C2931610|ORPHA:2037 http://purl.obolibrary.org/obo/MONDO_0016077 congenital aortopulmonary septal defect|congenital aortopulmonary artery fistula|aortopulmonary fistula|aorto-pulmonary artery fistula|aorta-pulmonary artery fistula ordo_morphological_anomaly MONDO:0004119 obsolete endometrial small cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004119 MONDO:0004118 cystitis cystica biolink:Disease mondo ICD9:595.81|SCTID:13285005|COHD:201633|DOID:7138|UMLS:C0152262|NCIT:C96230 A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells. SNOMEDCT:13285005|NCIT:C96230|DOID:7138|UMLS:C0152262 http://purl.obolibrary.org/obo/MONDO_0004118 HGNC:14270 PCDH19 biolink:OntologyClass mondo http://identifiers.org/hgnc/14270 MONDO:0006778 halo nevus biolink:Disease mondo MESH:D055882|ICDO:8723/0|ICD9:709.09|NCIT:C7602|UMLS:C0474824|EFO:1000958|MedDRA:10062794|GARD:0009421|SCTID:398028009 A benign melanocytic nevus with a halo appearance. MESH:D055882|SNOMEDCT:398028009|NCIT:C7602|UMLS:C0474824 http://purl.obolibrary.org/obo/MONDO_0006778 leukoderma acquisitum Centrifugum of Sutton|halo nevi gard_rare MONDO:0004115 obsolete gallbladder small cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004115 gall bladder small cell carcinoma MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma biolink:Disease mondo ICD10:C67.1|Orphanet:284400|ICD10:C67.0|NCIT:C9461|UMLS:C1332564|ONCOTREE:SCBC|ICD10:C67.9|ICD10:C67.8|ICD10:C67.7|ICD10:C67.6|ICD10:C67.5|EFO:1000129|DOID:7132|GARD:0011923|ICD10:C67.4|ICD10:C67.3|ICD10:C67.2|UMLS:CN202866 A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ. UMLS:CN202866|NCIT:C9461|ORPHA:284400|UMLS:C1332564|DOID:7132 http://purl.obolibrary.org/obo/MONDO_0004114 small cell carcinoma of the urinary bladder|SCCB|bladder small cell neuroendocrine carcinoma|small cell neuroendocrine carcinoma of urinary bladder|small cell bladder cancer|bladder small cell neuroendocrine cancer|small cell carcinoma of urinary bladder|poorly differentiated neuroendocrine carcinoma of the bladder|small cell bladder carcinoma|small cell carcinoma of the bladder|small cell neuroendocrine carcinoma of the urinary bladder|small cell/neuroendocrine carcinoma of urinary bladder|urinary bladder small cell carcinoma ordo_disease|gard_rare MONDO:0006779 heart aneurysm biolink:Disease mondo MESH:D006322|DOID:9768|SCTID:65340007|ICD10:I25.3|MedDRA:10002350|EFO:1000959|UMLS:C0018789|ICD9:414.10|ICD9:414.19 A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture. MESH:D006322|SNOMEDCT:65340007|UMLS:C0018789|DOID:9768 http://purl.obolibrary.org/obo/MONDO_0006779 cardiac aneurysm MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma biolink:Disease mondo NCIT:C6655|DOID:7136|UMLS:C1332250 An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. UMLS:C1332250|NCIT:C6655|DOID:7136 http://purl.obolibrary.org/obo/MONDO_0004117 small cell neuroendocrine carcinoma of the ampullary region|ampulla of Vater small cell NEC|hepatopancreatic ampulla small cell carcinoma|ampulla of Vater small cell neuroendocrine carcinoma|ampullary small cell carcinoma|ampulla of Vater small cell carcinoma MONDO:0006776 obsolete hairy cell leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006776 MONDO:0004116 esophageal small cell neuroendocrine carcinoma biolink:Disease mondo UMLS:C1112474|NCIT:C6762|DOID:7134 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells. NCIT:C6762|UMLS:C1112474|DOID:7134 http://purl.obolibrary.org/obo/MONDO_0004116 esophageal small cell neuroendocrine carcinoma|esophageal small cell NEC|Oat cell carcinoma of the esophagus|esophagus small cell carcinoma|esophagus Oat cell carcinoma|small cell carcinoma, esophagus|esophageal Oat cell carcinoma|Oat cell carcinoma of esophagus|small cell carcinoma of the esophagus|small cell carcinoma of esophagus|esophageal small cell carcinoma MONDO:0006777 hairy tongue biolink:Disease mondo UMLS:C0040414|SCTID:255225007|EFO:1000957|DOID:13500|MedDRA:10043960|ICD9:529.8|NCIT:C35075|MESH:D014064 A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black. DOID:13500|UMLS:C0040414|SNOMEDCT:255225007|MESH:D014064|NCIT:C35075 http://purl.obolibrary.org/obo/MONDO_0006777 hairy Tongues|Tongues, hairy|overgrowth of filiform papillae|hairy tongue MONDO:0004111 refractory hematologic cancer biolink:Disease mondo UMLS:C1335724|DOID:712|NCIT:C27357 A hematologic malignancy that is resistant to treatment. DOID:712|NCIT:C27357|UMLS:C1335724 http://purl.obolibrary.org/obo/MONDO_0004111 refractory hematologic malignancy|refractory hematologic cancer MONDO:0006774 habitual spontaneous abortion biolink:Disease mondo MESH:D000026|ICD10:N96|EFO:1000954|SCTID:102878001|MedDRA:10062935 Three or more consecutive spontaneous abortions. SNOMEDCT:102878001|MESH:D000026 http://purl.obolibrary.org/obo/MONDO_0006774 MONDO:0004110 refractory hairy cell leukemia biolink:Disease mondo UMLS:C0279780|NCIT:C8030|DOID:711 Hairy cell leukemia that is resistant to treatment. NCIT:C8030|UMLS:C0279780|DOID:711 http://purl.obolibrary.org/obo/MONDO_0004110 hairy cell leukemia, refractory|refractory hairy cell leukemia MONDO:0006775 obsolete haemophilus influenzae meningitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006775 MONDO:0004113 obsolete HCL-v biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004113 MONDO:0006772 glycogen storage disease VIII biolink:Disease mondo SCTID:41527003|GARD:0006538|UMLS:C0017927|MESH:D006015|MedDRA:10053242|DOID:2751|EFO:1000952 An X-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. MESH:D006015|DOID:2751|UMLS:C0017927|SNOMEDCT:41527003 http://purl.obolibrary.org/obo/MONDO_0006772 glycogenosis type 8|hepatic glycogen phosphorylase kinase deficiency|glycogen storage disease VIII|hepatic phosphorylase kinase deficiency|glycogen storage disease 8|phosphorylase kinase deficiency of liver|glycogenosis type VIII|PYKL|glycogen storage disease type VIII gard_rare CHEBI:36902 chalcogen hydride biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36902 chalcogen hydrides|chalcogen hydride MONDO:0006773 gonadal tissue neoplasm biolink:Disease mondo UMLS:C0206722|EFO:1000953|MESH:D018309 Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells. UMLS:C0206722|MESH:D018309 http://purl.obolibrary.org/obo/MONDO_0006773 MONDO:0004112 radiation cystitis biolink:Disease mondo NCIT:C123174|DOID:7127|ICD10:N30.4|COHD:201353|UMLS:C0156270|SCTID:11251000|ICD9:595.82 Inflammation of the bladder due to irradiation. UMLS:C0156270|SNOMEDCT:11251000|NCIT:C123174|DOID:7127 http://purl.obolibrary.org/obo/MONDO_0004112 irradiation cystitis MONDO:0006770 giant cell reparative granuloma biolink:Disease mondo ICD9:526.3|DOID:1866|SCTID:15350006|ICD10:M27.1|UMLS:C0162375|NCIT:C121893|EFO:1000950|MESH:D006101 A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure. MESH:D006101|SNOMEDCT:15350006|DOID:1866|UMLS:C0162375|NCIT:C121893 http://purl.obolibrary.org/obo/MONDO_0006770 central giant cell (reparative) granuloma|central giant cell granuloma|central giant cell reparative granuloma of jaw|GCLSB|giant cell lesion of small bones CHEBI:36908 argon molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36908 argon molecular entity|argon compounds|argon molecular entities MONDO:0006771 glossitis biolink:Disease mondo SCTID:45534005|DOID:1456|COHD:436147|UMLS:C0017675|EFO:1000951|MedDRA:10018386|ICD9:529.0|MESH:D005928|ICD10:K14.0 Inflammation of the tongue. NCIT:C112199|DOID:1456|UMLS:C0017675|MESH:D005928|SNOMEDCT:45534005 http://purl.obolibrary.org/obo/MONDO_0006771 inflammation of tongue|tongue inflammation HGNC:26257 PDZD7 biolink:OntologyClass mondo http://identifiers.org/hgnc/26257 MONDO:0016108 autosomal dominant distal myopathy biolink:Disease mondo UMLS:CN229018|ICD10:G71.0|Orphanet:206650 Autosomal dominant form of distal myopathy. ORPHA:206650|UMLS:CN229018 http://purl.obolibrary.org/obo/MONDO_0016108 distal myopathy, autosomal dominant ordo_group_of_disorders ECTO:9001655 cofactor exposure biolink:OntologyClass mondo An exposure to cofactor. http://purl.obolibrary.org/obo/ECTO_9001655 exposure to cofactor MONDO:0016109 autosomal recessive distal myopathy biolink:Disease mondo UMLS:CN229019|ICD10:G71.0|Orphanet:206653 Autosomal recessive form of distal myopathy. UMLS:CN229019|ORPHA:206653 http://purl.obolibrary.org/obo/MONDO_0016109 distal myopathy, autosomal recessive ordo_group_of_disorders MONDO:0018767 severe primary trimethylaminuria biolink:Disease mondo Orphanet:468726|ICD10:E88.8 ORPHA:468726 http://purl.obolibrary.org/obo/MONDO_0018767 ordo_disease MONDO:0016104 infectious disease with peripheral neuropathy biolink:Disease mondo NCIT:C27589|Orphanet:206613|UMLS:C1278821 An infectious process affecting the peripheral nerves. UMLS:C1278821|ORPHA:206613|NCIT:C27589 http://purl.obolibrary.org/obo/MONDO_0016104 peripheral nerve infection|peripheral nervous system infectious disorder ordo_group_of_disorders MONDO:0016105 acquired skeletal muscle disease biolink:Disease mondo Orphanet:206638|UMLS:CN200878 An instance of skeletal muscle disease that is acquired during the lifetime of the individual. UMLS:CN200878|ORPHA:206638 http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease ordo_group_of_disorders MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene biolink:Disease mondo Orphanet:468641 ORPHA:468641 http://purl.obolibrary.org/obo/MONDO_0018766 CEAS ordo_disease MONDO:0018769 isosporiasis biolink:Disease mondo NCIT:C4076|SCTID:371423007|MedDRA:10023076|UMLS:C0311386|DOID:2112|ICD10:A07.3|EFO:0007232|MESH:D021865|GARD:0003033|Orphanet:472 An intestinal infection with Isospora belli. ORPHA:472|SNOMEDCT:371423007|DOID:2112|UMLS:C0311386|NCIT:C4076|MESH:D021865|MEDDRA:10023076 http://purl.obolibrary.org/obo/MONDO_0018769 Cystoisospora belli disease or disorder|infection by Isospora belli and Isospora hominis|Isosporosis|cystoisosporiasis|Cystoisospora belli infectious disease|Cystoisospora belli caused disease or disorder ordo_disease MONDO:0016106 progressive muscular dystrophy biolink:Disease mondo UMLS:CN241791|GARD:0012583|Orphanet:206644|ICD10:G71.0 UMLS:CN241791|ORPHA:206644 http://purl.obolibrary.org/obo/MONDO_0016106 ordo_group_of_disorders MONDO:0016107 myotonic dystrophy biolink:Disease mondo MedDRA:10068871|NCIT:C84914|MESH:D009223|SCTID:240104008|ICD10:G71.1|Orphanet:206647|GARD:0010419|UMLS:C0027126|ICD9:359.2|OMIMPS:160900|DC:0000127|DOID:450 An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. SNOMEDCT:240104008|MESH:D009223|DOID:450|ORPHA:206647|MEDDRA:10068871|NCIT:C84914|UMLS:C0027126 http://purl.obolibrary.org/obo/MONDO_0016107 myotonia dystrophica|inherited myotonic dystrophy|myotonic disease|myotonia atrophica ordo_group_of_disorders MONDO:0018768 familial cold autoinflammatory syndrome biolink:Disease mondo DC:0000146|MedDRA:10064570|OMIMPS:120100|GARD:0009535|ICD10:L50.2|DOID:0090061|UMLS:CN230757|NCIT:C119053|Orphanet:47045|UMLS:C0343068 Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. UMLS:C0343068|UMLS:CN230757|MEDDRA:10064570|DOID:0090061|ORPHA:47045|NCIT:C119053 http://purl.obolibrary.org/obo/MONDO_0018768 familial cold urticaria|familial cold autoinflammatory syndrome|FCU|familial polymorphous cold eruption|FCAS ordo_disease MONDO:0016100 rippling muscle disease with myasthenia gravis biolink:Disease mondo UMLS:CN200870|ICD10:G70.8|Orphanet:206575 UMLS:CN200870|ORPHA:206575 http://purl.obolibrary.org/obo/MONDO_0016100 immune-mediated rippling muscle disease|acquired rippling muscle disease|Rmd-MG ordo_disease MONDO:0018763 Tubulinopathy-associated dysgyria biolink:Disease mondo UMLS:CN242152|Orphanet:467166 ORPHA:467166|UMLS:CN242152 http://purl.obolibrary.org/obo/MONDO_0018763 brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome ordo_disease MONDO:0016101 neurolymphomatosis biolink:Disease mondo SCTID:766752000|UMLS:C0024793|GARD:0006974|Orphanet:206586|MESH:D008380 A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye. MESH:D008380|UMLS:C0024793|ORPHA:206586|SNOMEDCT:766752000 http://purl.obolibrary.org/obo/MONDO_0016101 fowl paralyses|Marek disease|fowl paralysis|Marek's disease ordo_disease MONDO:0018762 non-acquired combined pituitary hormone deficiency biolink:Disease mondo ICD10:E23.0|Orphanet:467 Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. ORPHA:467 http://purl.obolibrary.org/obo/MONDO_0018762 congenital combined pituitary hormone deficiency|congenital hypopituitarism ordo_group_of_disorders MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis biolink:Disease mondo UMLS:C4302263|Orphanet:468635|SCTID:722849002 UMLS:C4302263|SNOMEDCT:722849002|ORPHA:468635 http://purl.obolibrary.org/obo/MONDO_0018765 CMUSE ordo_disease MONDO:0016102 subacute inflammatory demyelinating polyneuropathy biolink:Disease mondo UMLS:C0456517|Orphanet:206594|SCTID:277189006|ICD10:G61.8 Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-BarrC) syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP). SNOMEDCT:277189006|ORPHA:206594|UMLS:C0456517 http://purl.obolibrary.org/obo/MONDO_0016102 SIDP|Subacute inflammatory demyelinating polyradiculoneuropathy ordo_disease MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase biolink:Disease mondo Orphanet:206599|NCIT:C148327 Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle. ORPHA:206599|NCIT:C148327 http://purl.obolibrary.org/obo/MONDO_0016103 isolated asymptomatic hyperCKemia|idiopathic asymptomatic hyperCKemia|hyperCKmia|isolated hyperCKemia ordo_biological_anomaly MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency biolink:Disease mondo Orphanet:468631 Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported. ORPHA:468631 http://purl.obolibrary.org/obo/MONDO_0018764 ordo_malformation_syndrome MONDO:0018761 SMARCA4-deficient sarcoma of thorax biolink:Disease mondo Orphanet:466962|UMLS:CN242100 ORPHA:466962|UMLS:CN242100 http://purl.obolibrary.org/obo/MONDO_0018761 SMARCA4-deficient thoracic sarcoma ordo_disease MONDO:0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome biolink:Disease mondo UMLS:CN242159|Orphanet:466943 ORPHA:466943|UMLS:CN242159 http://purl.obolibrary.org/obo/MONDO_0018760 ordo_malformation_syndrome MONDO:0004129 cloacogenic carcinoma biolink:Disease mondo DOID:7173|ICDO:8124/3|NCIT:C8255|MESH:C563020 An anal carcinoma arising from the transitional zone of the anal canal. NCIT:C8255|MESH:C563020|DOID:7173 http://purl.obolibrary.org/obo/MONDO_0004129 cloacogenic carcinoma of the anus|anal canal cloacogenic carcinoma|cloacogenic carcinoma (morphologic abnormality)|anal canal cloacogenic cancer|anal cloacogenic carcinoma|cloacogenic anal carcinoma|cloacogenic carcinoma of anus MONDO:0004126 thyroiditis (disease) biolink:Disease mondo COHD:133444|HP:0100646|ICD10:E06|NCIT:C26894|ICD9:245|UMLS:C0040147|ICD9:245.9|ICD10:E06.9|DOID:7166|MESH:D013966|SCTID:82119001 Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. SNOMEDCT:82119001|MESH:D013966|UMLS:C0040147|NCIT:C26894|DOID:7166 http://purl.obolibrary.org/obo/MONDO_0004126 thyroid gland inflammation|thyroiditis|inflammation of thyroid gland MONDO:0006789 hyperamylasemia biolink:Disease mondo MedDRA:10062777|EFO:1000969|MESH:D034321 Abnormally high level of amylase in the blood. MESH:D034321|NCIT:C113755 http://purl.obolibrary.org/obo/MONDO_0006789 MONDO:0004125 rectum leiomyoma biolink:Disease mondo DOID:7160|NCIT:C5552|UMLS:C1335682 A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C5552|DOID:7160|UMLS:C1335682 http://purl.obolibrary.org/obo/MONDO_0004125 leiomyoma of rectum|leiomyoma of the rectum|rectum leiomyoma|rectal leiomyoma MONDO:0006787 hidrocystoma biolink:Disease mondo ICDO:8404/0|DOID:3893|SCTID:254725004|MESH:D018251|ICD9:709.8|MedDRA:10059019|EFO:1000967|UMLS:C0206672|NCIT:C3760 A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative. UMLS:C0206672|SNOMEDCT:254725004|MESH:D018251|DOID:3893|NCIT:C3760 http://purl.obolibrary.org/obo/MONDO_0006787 hidrocystoma (morphologic abnormality)|eccrine hidrocystoma of skin|apocrine/eccrine hidrocystoma|eccrine cystadenoma|hidrocystoma|cystadenoma|Hydrocystoma|apocrine cystadenoma MONDO:0004128 lung occult large cell carcinoma biolink:Disease mondo NCIT:C6685|DOID:7169|UMLS:C1335095 A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. NCIT:C6685|UMLS:C1335095|DOID:7169 http://purl.obolibrary.org/obo/MONDO_0004128 occult large cell lung carcinoma|occult large cell carcinoma of lung|occult large cell carcinoma of the lung MONDO:0004127 lung occult adenocarcinoma biolink:Disease mondo NCIT:C6699|DOID:7168|UMLS:C1335096 A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. NCIT:C6699|UMLS:C1335096|DOID:7168 http://purl.obolibrary.org/obo/MONDO_0004127 occult lung adenocarcinoma|occult adenocarcinoma of the lung|occult adenocarcinoma of lung MONDO:0006788 hydrophthalmos biolink:Disease mondo EFO:1000968|ICD10:Q15.0|DOID:11212|MESH:D006871|ICD9:743.20|ICD9:743.2 Abnormal enlargement of the eye DOID:11212|MESH:D006871 http://purl.obolibrary.org/obo/MONDO_0006788 MONDO:0004122 thymus small cell carcinoma biolink:Disease mondo NCIT:C6460|UMLS:C1335980|DOID:7142|EFO:1000578 An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. NCIT:C6460|DOID:7142|UMLS:C1335980 http://purl.obolibrary.org/obo/MONDO_0004122 thymic small cell carcinoma neuroendocrine type|small cell carcinoma of the Thymus|thymic small cell carcinoma|small cell carcinoma of Thymus|small cell carcinoma of thymus|thymus small cell carcinoma|Thymus small cell carcinoma MONDO:0006785 Henoch-Schoenlein purpura biolink:Disease mondo ICD9:287.0|ICD10:D69.0|MESH:D011695|EFO:1000965|DOID:11123|NCIT:C34963|SCTID:191306005 A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy. NCIT:C34963|SNOMEDCT:191306005|MESH:D011695|DOID:11123 http://purl.obolibrary.org/obo/MONDO_0006785 Henoch-SCh?nlein purpura|Henoch-SCh@nlein purpura|HSP|Henoch-SChönlein purpura|allergic purpura|Henoch-Schonlein purpura|Schoenlein-Henoch purpura|autoimmune purpura|Henoch-Scholein purpura|purpura, autoimmune CHEBI:36915 inorganic cation biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cations MONDO:0006786 hepatic vein thrombosis biolink:Disease mondo SCTID:38739001|DOID:11512|MedDRA:10006537|EFO:1000966|MedDRA:10019713|ICD9:453.0|ICD10:I82.0 A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon. SNOMEDCT:38739001|DOID:11512 http://purl.obolibrary.org/obo/MONDO_0006786 hepatic vein thrombosis|Budd-Chiari syndrome CHEBI:36916 cation biolink:ChemicalSubstance mondo A monoatomic or polyatomic species having one or more elementary charges of the proton. http://purl.obolibrary.org/obo/CHEBI_36916 cations|cationes|Kation|Cation|cation|Kationen MONDO:0004121 obsolete prostate small cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004121 MONDO:0004124 prostate stromal sarcoma biolink:Disease mondo DOID:7152|UMLS:C1335521|NCIT:C5524 A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism. NCIT:C5524|UMLS:C1335521|DOID:7152 http://purl.obolibrary.org/obo/MONDO_0004124 stromal sarcoma of prostate|prostate stromal sarcoma|stromal sarcoma of the prostate MONDO:0006783 hemopneumothorax biolink:Disease mondo ICD10:J94.2|UMLS:C0019077|SCTID:16632002|EFO:1000963|DOID:2718|MedDRA:10060632|MESH:D006468|ICD9:511.89 Collection of air and blood in the pleural cavity. UMLS:C0019077|MESH:D006468|DOID:2718|SNOMEDCT:16632002 http://purl.obolibrary.org/obo/MONDO_0006783 MONDO:0043731 lytic metastatic bone lesion biolink:Disease mondo EFO:1001821|MESH:D010014|SCTID:203522001|NCIT:C35371 Dissolution of bone that particularly involves the removal or loss of calcium. NCIT:C35371|MESH:D010014|SNOMEDCT:203522001 http://purl.obolibrary.org/obo/MONDO_0043731 osteolytic lesion|osteolysis|Osteolyses|lytic metastatic bone lesion CHEBI:36914 inorganic ion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ions MONDO:0006784 hemorrhagic disease of newborn biolink:Disease mondo MESH:D006475|SCTID:12546009|NCIT:C111857|MedDRA:10019601|EFO:1000964|ICD9:776.0|ICD10:P53 A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver. MESH:D006475|NCIT:C111857|SNOMEDCT:12546009 http://purl.obolibrary.org/obo/MONDO_0006784 hemorrhagic disease of newborn|vitamin K deficiency bleeding in newborn MONDO:0004123 obsolete laryngeal small cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004123 HGNC:26262 TTI2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26262 MONDO:0006781 Helicobacter pylori infectious disease biolink:Disease mondo EFO:1000961|MESH:D016481 Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease. MESH:D016481 http://purl.obolibrary.org/obo/MONDO_0006781 Helicobacter pylori disease or disorder|infection, Helicobacter|Helicobacter pylori infection, susceptibility to|infections, Helicobacter|Helicobacter pylori caused disease or disorder|Helicobacter infection MONDO:0006782 hemometra biolink:Disease mondo DOID:9958|COHD:195876|ICD10:N85.7|EFO:1000962|SCTID:38280009|MESH:D006409|ICD9:621.4 Blood-filled uterus. MESH:D006409|DOID:9958|SNOMEDCT:38280009 http://purl.obolibrary.org/obo/MONDO_0006782 hematometra MONDO:0004120 Bartholin gland small cell carcinoma biolink:Disease mondo NCIT:C40298|UMLS:C1511051|DOID:7140 A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity. UMLS:C1511051|DOID:7140|NCIT:C40298 http://purl.obolibrary.org/obo/MONDO_0004120 small cell carcinoma of major vestibular gland|Bartholin gland small cell carcinoma|Bartholin's gland small cell carcinoma|major vestibular gland small cell carcinoma HGNC:26267 POMK biolink:OntologyClass mondo http://identifiers.org/hgnc/26267 MONDO:0006780 heartwater disease biolink:Disease mondo MESH:D006357|UMLS:C0018835|EFO:1000960 A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium. MESH:D006357|UMLS:C0018835 http://purl.obolibrary.org/obo/MONDO_0006780 disease, heartwater MONDO:0043726 multiple organ dysfunction syndrome biolink:Disease mondo MESH:D009102|SCTID:57653000 The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult. SNOMEDCT:57653000|MESH:D009102 http://purl.obolibrary.org/obo/MONDO_0043726 multisystem organ failure|failure, multiple organ|organ failure, multiple|multiple organ failure|multiple organ systems failure|multiple systems organ failure|organ dysfunction syndrome, multiple|multiple organ system failure|MODS|multiple organ dysfunction syndrome|multiple organ failures|multi-organ failure|multiorgan failure MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome biolink:Disease mondo Orphanet:466921|UMLS:CN776870 ORPHA:466921|UMLS:CN776870 http://purl.obolibrary.org/obo/MONDO_0018759 ordo_disease MONDO:0043723 Monteggia's fracture biolink:Disease mondo EFO:1001373|MESH:D009011|SCTID:123973009 Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius. MESH:D009011|SNOMEDCT:123973009 http://purl.obolibrary.org/obo/MONDO_0043723 Monteggia fracture|monteggia fracture dislocation|fracture, Monteggia's|monteggia fracture|Monteggias fracture|monteggia's fracture|monteggia's dislocation MONDO:0018756 euthyroid Graves orbitopathy biolink:Disease mondo ICD10:H05.2|Orphanet:466682 ORPHA:466682 http://purl.obolibrary.org/obo/MONDO_0018756 euthyroid Graves ophthalmopathy ordo_disease MONDO:0018755 scorpion envenomation biolink:Disease mondo Orphanet:466677|SCTID:217670007|UMLS:CN242103|ICD10:T63.2 Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema. UMLS:CN242103|ORPHA:466677|SNOMEDCT:217670007 http://purl.obolibrary.org/obo/MONDO_0018755 poisoning caused by scorpion venom|toxic effect of venom of scorpion|poisoning due to scorpion venom ordo_disease MONDO:0018758 familial patent arterial duct biolink:Disease mondo UMLS:CN242171|Orphanet:466729 Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. UMLS:CN242171|ORPHA:466729 http://purl.obolibrary.org/obo/MONDO_0018758 ordo_morphological_anomaly MONDO:0018757 supratip dysplasia biolink:Disease mondo ICD10:J34.8|Orphanet:466695 Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected. ORPHA:466695 http://purl.obolibrary.org/obo/MONDO_0018757 ordo_morphological_anomaly MONDO:0018752 exercise-induced malignant hyperthermia biolink:Disease mondo SCTID:735907005|Orphanet:466650|ICD10:T88.3 ORPHA:466650|SNOMEDCT:735907005 http://purl.obolibrary.org/obo/MONDO_0018752 Exertional heat stroke ordo_disease HGNC:14287 NLGN4X biolink:OntologyClass mondo http://identifiers.org/hgnc/14287 MONDO:0018751 genetic otorhinolaryngologic disease biolink:Disease mondo UMLS:CN242186|Orphanet:466084 An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. ORPHA:466084|UMLS:CN242186 http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease ordo_group_of_disorders MONDO:0018754 cyanide poisoning biolink:Disease mondo UMLS:CN242145|SCTID:66207005|ICD9:989.0|Orphanet:466670|ICD10:T65.0 UMLS:CN242145|ORPHA:466670|SNOMEDCT:66207005 http://purl.obolibrary.org/obo/MONDO_0018754 ordo_clinical_situation HGNC:14289 NLGN3 biolink:OntologyClass mondo http://identifiers.org/hgnc/14289 MONDO:0018753 rare disease with malignant hyperthermia biolink:Disease mondo Orphanet:466658|UMLS:CN242072 UMLS:CN242072|ORPHA:466658 http://purl.obolibrary.org/obo/MONDO_0018753 ordo_group_of_disorders|obsoletion_candidate MONDO:0018750 class I glucose-6-phosphate dehydrogenase deficiency biolink:Disease mondo Orphanet:466026 ORPHA:466026 http://purl.obolibrary.org/obo/MONDO_0018750 Class I G6PD deficiency|severe hemolytic anemia due to G6PD deficiency ordo_disease MONDO:0006758 female genital tuberculosis biolink:Disease mondo MedDRA:10061150|MESH:D014384|SCTID:74181004|EFO:1000935 Mycobacterium infections of the female reproductive tract (genitalia, female). MESH:D014384|SNOMEDCT:74181004 http://purl.obolibrary.org/obo/MONDO_0006758 MONDO:0006759 femoral neuropathy biolink:Disease mondo ICD10:G57.20|NCIT:C27595|MESH:D020428|ICD9:355.2|SCTID:25690000|COHD:439807|ICD10:G57.2|UMLS:C0751931|EFO:1000936|DOID:4196 Neuropathy of the femoral nerve. MESH:D020428|DOID:4196|SNOMEDCT:25690000|UMLS:C0751931|NCIT:C27595 http://purl.obolibrary.org/obo/MONDO_0006759 peripheral nerve lesion of femoral nerve|femoral nerve dysfunction|femoral nerve lesions|femoral nerve peripheral nerve lesion MONDO:0006756 obsolete extracutaneous mastocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006756 MONDO:0006757 extrahepatic cholestasis biolink:Disease mondo UMLS:C0005398|SCTID:8262006|DOID:13619|MESH:D001651|MedDRA:10008637|EFO:1000933 Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver. SNOMEDCT:8262006|MESH:D001651|NCIT:C34420|DOID:13619|UMLS:C0005398 http://purl.obolibrary.org/obo/MONDO_0006757 extrahepatic bile duct cholestasis|extrahepatic biliary stasis|extrahepatic cholestasis (finding)|cholestasis of extrahepatic bile duct|extrahepatic obstructive biliary disease MONDO:0006754 esophageal diverticulosis biolink:Disease mondo EFO:1000930|MESH:D045723|UMLS:C0917875|DOID:13185 A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus. MESH:D045723|UMLS:C0917875|DOID:13185 http://purl.obolibrary.org/obo/MONDO_0006754 MONDO:0006755 euthyroid sick syndrome biolink:Disease mondo EFO:1000931|MESH:D005067|UMLS:C0015190|NCIT:C113170|SCTID:237542005|DOID:2856|ICD10:E07.81|MedDRA:10015549|ICD9:790.94|COHD:137991 Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness. SNOMEDCT:237542005|NCIT:C113170|MESH:D005067|DOID:2856|UMLS:C0015190 http://purl.obolibrary.org/obo/MONDO_0006755 euthyroid sick syndrome|sick-euthyroid syndrome|sick euthyroid syndrome MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease biolink:Disease mondo EFO:1000928 A disease caused by infection with Erysipelothrix rhusiopathiae. http://purl.obolibrary.org/obo/MONDO_0006752 Erysipelothrix rhusiopathiae caused disease or disorder|Erysipelothrix rhusiopathiae disease or disorder MONDO:0006753 Escherichia coli meningitis biolink:Disease mondo MESH:D020814|EFO:1000929|ICD9:320.82|SCTID:192655005|ICD9:320.7|UMLS:C0338395 A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400) MESH:D020814|SNOMEDCT:192655005|UMLS:C0338395 http://purl.obolibrary.org/obo/MONDO_0006753 MONDO:0006750 obsolete Erdheim-Chester disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006750 HGNC:26230 TM4SF20 biolink:OntologyClass mondo http://identifiers.org/hgnc/26230 MONDO:0006751 Erysipelothrix infectious disease biolink:Disease mondo SCTID:367434002|EFO:1000927|MESH:D004889|UMLS:C0014736 Infections with bacteria of the genus erysipelothrix. UMLS:C0014736|SNOMEDCT:367434002|MESH:D004889 http://purl.obolibrary.org/obo/MONDO_0006751 Erysipelothrix caused disease or disorder|Erysipelothrix disease or disorder|infection, Erysipelothrix|infections, Erysipelothrix|Erysipelothrix infection UBERON:0003395 mesentery of rectum biolink:AnatomicalEntity mondo A mesentery that is part of a rectum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003395 rectum mesentery MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome biolink:Disease mondo HGNC:5153|ICD10:D56.4|HGNC:3627|UMLS:CN205122|Orphanet:46532 Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells. ORPHA:46532|UMLS:CN205122 http://purl.obolibrary.org/obo/MONDO_0018749 HPFH-beta-thalassemia syndrome ordo_disease UBERON:0003396 mesentery of colon biolink:AnatomicalEntity mondo A mesentery that is part of a colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003396 mesentery of large intestine|colon mesentery|mesocolon|large intestinal mesentery|large bowel mesentery|mesentery of large bowel MONDO:0018748 linear IgA Dermatosis biolink:Disease mondo SCTID:95330001|GARD:0010960|UMLS:C0406650|MESH:D062027|Orphanet:46488|MedDRA:10024515|ICD10:L10.8 Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin). ORPHA:46488|MEDDRA:10024515|UMLS:C0406650|SNOMEDCT:95330001|MESH:D062027 http://purl.obolibrary.org/obo/MONDO_0018748 ordo_disease UBERON:0003393 mesentery of urinary system biolink:AnatomicalEntity mondo A mesentery that is part of a urinary system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003393 mesentery of systema urinaria|mesentery of renal system|excretory system mesentery|urinary system mesentery|systema urinaria mesentery|renal system mesentery|mesentery of excretory system UBERON:0003394 mesentery of hindgut biolink:AnatomicalEntity mondo A mesentery that is part of a hindgut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003394 hindgut mesentery MONDO:0018745 superficial pemphigus biolink:Disease mondo UMLS:CN227541|ICD10:L10.4|ICD10:L10.3|ICD10:L10.2|Orphanet:46485 Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants. ORPHA:46485|UMLS:CN227541 http://purl.obolibrary.org/obo/MONDO_0018745 ordo_group_of_disorders HGNC:14258 CD2AP biolink:OntologyClass mondo http://identifiers.org/hgnc/14258 MONDO:0018744 oligodendroglial tumor biolink:Disease mondo Orphanet:46484|NCIT:C6960|UMLS:CN205116|UMLS:C1335110 Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). ORPHA:46484|UMLS:CN205116|UMLS:C1335110|NCIT:C6960 http://purl.obolibrary.org/obo/MONDO_0018744 oligodendroglial tumor|oligodendroglial neoplasm ordo_group_of_disorders MONDO:0018747 acquired epidermolysis bullosa biolink:Disease mondo GARD:0006360|DOID:4313|UMLS:C0079293|Orphanet:46487|ICD10:L12.3|MedDRA:10056508|EFO:1000691|ICD10:L12.30|ICD9:695.19|MESH:D016107|NCIT:C84690|SCTID:2772003 Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB. ORPHA:46487|SNOMEDCT:2772003|DOID:4313|UMLS:C0079293|MEDDRA:10056508|MESH:D016107|NCIT:C84690 http://purl.obolibrary.org/obo/MONDO_0018747 epidermolysis bullosa acquisita|epidermolysis bullosa Aquisita|EBA|acquired epidermolysis bullosa|EB acquisita gard_rare|ordo_disease MONDO:0018746 mucous membrane pemphigoid biolink:Disease mondo NCIT:C34907|SCTID:76092003|DOID:11656|EFO:1000680|ICD9:694.6|MedDRA:10057052|COHD:376189|ICD10:L12.1|Orphanet:46486|ICD9:694.61|GARD:0005913 Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane. ORPHA:46486|SNOMEDCT:76092003|NCIT:C34907|MEDDRA:10057052|DOID:11656 http://purl.obolibrary.org/obo/MONDO_0018746 ocular pemphigoid|Mucosynechial pemphigoid|benign mucous Membrane pemphigoid|benign mucosal pemphigoid|ocular pemphigus|cicatricial pemphigoid|benign mucous membrane pemphigoid|benign mucous membrance pemphigoid|cicatricial pemphigoid with ocular involvement|benign mucous membrane pemphigoid with ocular involvement|mucosal pemphigoid ordo_disease MONDO:0043735 osteoradionecrosis biolink:Disease mondo SCTID:109333005|MESH:D010025|NCIT:C63707 Necrosis of bone following radiation injury. SNOMEDCT:109333005|NCIT:C63707|MESH:D010025 http://purl.obolibrary.org/obo/MONDO_0043735 radiation necrosis of bone|Osteoradionecroses|osteoradionecrosis NCBITaxon:33758 Echovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33758 UBERON:0003390 mesothelium of pleural cavity biolink:AnatomicalEntity mondo A mesothelium that is part of a pleural cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003390 pleural cavity mesothelium|pleura|mesothelium of pleura|pleural cavity meso-epithelium|pleural mesothelium|meso-epithelium of pleural cavity MONDO:0018741 paracetamol poisoning biolink:Disease mondo Orphanet:464458|SCTID:70273001|ICD9:965.4 ORPHA:464458|SNOMEDCT:70273001 http://purl.obolibrary.org/obo/MONDO_0018741 acetaminophen poisoning ordo_clinical_situation MONDO:0018740 drug-induced methemoglobinemia biolink:Disease mondo NCIT:C101045|Orphanet:464453|SCTID:191390009|UMLS:C0271905|ICD10:D74.8 Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene). UMLS:C0271905|NCIT:C101045|ORPHA:464453|SNOMEDCT:191390009 http://purl.obolibrary.org/obo/MONDO_0018740 drug induced methemoglobinemia|acquired methemoglobinemia ordo_disease HGNC:14255 BRPF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14255 MONDO:0018743 immune-mediated acquired neuromuscular junction disease biolink:Disease mondo Orphanet:464764|UMLS:CN242076 UMLS:CN242076|ORPHA:464764 http://purl.obolibrary.org/obo/MONDO_0018743 ordo_group_of_disorders MONDO:0018742 familial gastric type 1 neuroendocrine tumor biolink:Disease mondo Orphanet:464756|UMLS:CN242170 UMLS:CN242170|ORPHA:464756 http://purl.obolibrary.org/obo/MONDO_0018742 hereditary type 1 gNET|familial type 1 gNET ordo_disease ECTO:9001630 endocrine disruptor exposure biolink:OntologyClass mondo An exposure to endocrine disruptor. http://purl.obolibrary.org/obo/ECTO_9001630 exposure to endocrine disruptor UBERON:0003397 mesentery of duodenum biolink:AnatomicalEntity mondo A mesentery that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003397 duodenum mesentery UBERON:0003398 mesentery of jejunum biolink:AnatomicalEntity mondo A mesentery that is part of a jejunum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003398 jejunal mesentery|mesojejunum|jejunum mesentery HGNC:14253 CERS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14253 MONDO:0004108 diaphragma sellae meningioma biolink:Disease mondo UMLS:C1333283|NCIT:C5283|DOID:7103 A meningioma that affects the diaphragma sellae. DOID:7103|UMLS:C1333283|NCIT:C5283 http://purl.obolibrary.org/obo/MONDO_0004108 meningioma of diaphragm sellae|meningioma of the Diaphragma sellae|diaphragma sellae meningioma (disease)|meningioma of Diaphragma sellae|meningioma of the diaphragm sellae|diaphragm sellae meningioma|meningioma (disease) of diaphragma sellae MONDO:0004107 splenic manifestation of leukemia biolink:Disease mondo NCIT:C7296|UMLS:C1336065|DOID:710 A leukemia (disease) that involves the spleen. DOID:710|NCIT:C7296|UMLS:C1336065 http://purl.obolibrary.org/obo/MONDO_0004107 splenic manifestation of leukemia|leukemia (disease) of spleen|spleen leukemia (disease)|splenic leukemia MONDO:0006769 gastroparesis (disease) biolink:Disease mondo ICD10:K31.84|DOID:11914|MESH:D018589|HP:0002578|ICD9:536.3|EFO:1000948|COHD:195847|UMLS:C0152020|MedDRA:10018043|SCTID:196753007 Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. SNOMEDCT:196753007|NCIT:C80512|MESH:D018589|DOID:11914|UMLS:C0152020 http://purl.obolibrary.org/obo/MONDO_0006769 gastroparalysis|gastric atonia|gastroparesis|gastroparesis syndrome MONDO:0004109 epiglottis neoplasm biolink:Disease mondo UMLS:C1290353|DOID:7105|NCIT:C4933|SCTID:126699008 A benign or malignant neoplasm that affects the epiglottis. UMLS:C1290353|DOID:7105|NCIT:C4933|SNOMEDCT:126699008 http://purl.obolibrary.org/obo/MONDO_0004109 neoplasm of epiglottis|epiglottis tumor|epiglottic tumor|epiglottic neoplasm|tumor of Epiglottis|tumor of the Epiglottis|tumor of epiglottis|epiglottis neoplasm (disease)|neoplasm of Epiglottis|Epiglottis tumor|neoplasm of the Epiglottis MONDO:0006767 gastric antral vascular ectasia biolink:Disease mondo NCIT:C84724|SCTID:43935004|GARD:0007877|MedDRA:10051585|DOID:2493|EFO:1000945|MESH:D020252 Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding. SNOMEDCT:43935004|DOID:2493|MESH:D020252|NCIT:C84724 http://purl.obolibrary.org/obo/MONDO_0006767 watermelon stomach|gave MONDO:0004104 splenic manifestation of hairy cell leukemia biolink:Disease mondo SCTID:93151007|UMLS:C1336064|NCIT:C7301|ICD9:202.47|DOID:709 A hairy cell leukemia that involves the spleen. DOID:709|NCIT:C7301|UMLS:C1336064|SNOMEDCT:93151007 http://purl.obolibrary.org/obo/MONDO_0004104 spleen hairy cell leukemia|hairy cell leukemia of spleen|splenic manifestation of hairy cell leukemia MONDO:0004103 tall cell variant thyroid gland papillary carcinoma biolink:Disease mondo NCIT:C35558|UMLS:C1336695|DOID:7089 A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present. NCIT:C35558|UMLS:C1336695|DOID:7089 http://purl.obolibrary.org/obo/MONDO_0004103 tall cell variant papillary carcinoma|tall cell variant thyroid gland papillary carcinoma MONDO:0006768 obsolete gastric outlet obstruction biolink:Disease mondo Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. http://purl.obolibrary.org/obo/MONDO_0006768 MONDO:0006765 Fusobacterium infectious disease biolink:Disease mondo ICD9:041.84|SCTID:712657002|EFO:1000943|UMLS:C4039413 Infections with bacteria of the genus fusobacterium. UMLS:C4039413|SNOMEDCT:712657002 http://purl.obolibrary.org/obo/MONDO_0006765 infection caused by Fusobacterium|Fusobacterium disease or disorder|infection due to Fusobacterium|Fusobacterium caused disease or disorder MONDO:0004106 testicular yolk sac tumor, macrocystic pattern biolink:Disease mondo NCIT:C39924|DOID:7097|UMLS:C1515307 A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces. UMLS:C1515307|NCIT:C39924|DOID:7097 http://purl.obolibrary.org/obo/MONDO_0004106 macrocystic pattern testicular yolk sac tumor|testicular yolk sac tumor, macrocystic pattern MONDO:0006766 gait apraxia biolink:Disease mondo UMLS:C1510417|DOID:4260|MESH:D020235|EFO:1000944|MedDRA:10070635 Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia. DOID:4260|UMLS:C1510417|MESH:D020235 http://purl.obolibrary.org/obo/MONDO_0006766 Gait apraxia (finding) MONDO:0004105 childhood epithelioid sarcoma biolink:Disease mondo DOID:7095|NCIT:C8095|UMLS:C0279989 An epithelioid sarcoma occurring in childhood. NCIT:C8095|UMLS:C0279989|DOID:7095 http://purl.obolibrary.org/obo/MONDO_0004105 epithelioid sarcoma|epithelioid sarcoma of childhood|childhood epithelioid sarcoma|pediatric epithelioid sarcoma|pediatric epithelioid sarcoma MONDO:0004100 lung mixed small cell and squamous cell carcinoma biolink:Disease mondo UMLS:C1334788|DOID:7081|NCIT:C9423 A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma. NCIT:C9423|DOID:7081|UMLS:C1334788 http://purl.obolibrary.org/obo/MONDO_0004100 small cell and squamous cell lung carcinoma|small cell and squamous cell carcinoma of lung|mixed small cell and squamous cell carcinoma of lung|small cell and squamous cell carcinoma of the lung|small cell and large cell carcinoma of the lung|combined small cell and squamous cell lung carcinoma|combined small and large cell lung cancer|mixed small cell and squamous cell carcinoma of the lung MONDO:0006763 frozen shoulder biolink:Disease mondo ICD10:M75.0|DOID:14188|ICD9:726.0|MedDRA:10017391|UMLS:C0311223|SCTID:399114005|EFO:1000941 Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. DOID:14188|UMLS:C0311223|SNOMEDCT:399114005 http://purl.obolibrary.org/obo/MONDO_0006763 adhesive capsulitis of shoulder|adhesions-capsulitis,shoulder MONDO:0006764 fungal meningitis biolink:Disease mondo SCTID:24321005|COHD:432602|ICD9:117.9|DOID:11608|MedDRA:10017538|MESH:D016921|UMLS:C0085438|EFO:1000942|ICD9:321.1 Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts. UMLS:C0085438|SNOMEDCT:24321005|DOID:11608|MESH:D016921 http://purl.obolibrary.org/obo/MONDO_0006764 Fungi caused infectious meningitis|Fungi infectious meningitis MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma biolink:Disease mondo NCIT:C35830|ICDO:8344/3|UMLS:C1333120|DOID:7088 A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells. NCIT:C35830|DOID:7088|UMLS:C1333120 http://purl.obolibrary.org/obo/MONDO_0004102 columnar cell variant thyroid gland papillary carcinoma|columnar cell variant papillary thyroid gland carcinoma|columnar cell variant papillary carcinoma MONDO:0006761 fibromuscular dysplasia biolink:Disease mondo NCIT:C84714|MESH:D005352|EFO:1000938|OMIM:135580|UMLS:C1851111|MESH:C537929|MedDRA:10054794 A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation. MESH:C537929|http://identifiers.org/omim/135580|MESH:D005352|UMLS:C1851111|NCIT:C84714 http://purl.obolibrary.org/obo/MONDO_0006761 FMDA|fibromuscular dysplasia of arteries|fibromuscular dysplasia; FMDA MONDO:0006762 freemartinism biolink:Disease mondo UMLS:C0016697|EFO:1000939|DOID:4671|MESH:D005611 A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism). DOID:4671|MESH:D005611|UMLS:C0016697 http://purl.obolibrary.org/obo/MONDO_0006762 MONDO:0004101 multicentric papillary thyroid carcinoma biolink:Disease mondo NCIT:C37304|UMLS:C1334817|DOID:7086 A papillary carcinoma arising from the thyroid gland from multiple foci. UMLS:C1334817|NCIT:C37304|DOID:7086 http://purl.obolibrary.org/obo/MONDO_0004101 multicentric thyroid gland papillary carcinoma|multicentric papillary thyroid gland carcinoma|multicentric papillary thyroid carcinoma MONDO:0006760 fetal erythroblastosis biolink:Disease mondo ICD10:P55|DOID:1098|ICD9:773.2|EFO:1000937|MESH:D004899|SCTID:387705004|ICD10:P55.9|NCIT:C101304|UMLS:C0014761|ICD9:773 A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. UMLS:C0014761|SNOMEDCT:387705004|NCIT:C101304|DOID:1098|MESH:D004899 http://purl.obolibrary.org/obo/MONDO_0006760 EF - erythroblastosis foetalis|rhesus isoimmunisation of the newborn|isoimmune hemolytic disease of the newborn|erythroblastosis fetalis|HDFN|haemolytic disease due to rhesus isoimmunisation|hemolytic disease of the newborn|hemolytic disease of the fetus or newborn MONDO:0018738 benign metanephric tumour biolink:Disease mondo Orphanet:464359|ICD10:D30.0|UMLS:CN242075 A benign neoplasm that involves the metanephros. UMLS:CN242075|ORPHA:464359 http://purl.obolibrary.org/obo/MONDO_0018738 ordo_disease UBERON:0003384 skeletal muscle tissue of pharynx biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003384 skeletal muscle tissue of pharynx|pharynx skeletal muscle tissue|pharynx skeletal muscle MONDO:0018737 catastrophic antiphospholipid syndrome biolink:Disease mondo ICD10:D68.6|UMLS:C3662487|UMLS:CN242096|Orphanet:464343|SCTID:609329007|ICD9:289.81|GARD:0009820 UMLS:CN242096|UMLS:C3662487|ORPHA:464343|SNOMEDCT:609329007 http://purl.obolibrary.org/obo/MONDO_0018737 caps|catastrophic APS ordo_disease UBERON:0003382 cardiac muscle of left ventricle biolink:AnatomicalEntity mondo A portion of cardiac muscle tissue that is part of a left ventricle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003382 cardiac muscle tissue of left ventricle|left ventricle cardiac muscle|left ventricular cardiac muscle tissue UBERON:0003383 cardiac muscle tissue of interventricular septum biolink:AnatomicalEntity mondo A portion of cardiac muscle tissue that is part of an interventricular septum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003383 interventricular septum heart muscle|cardiac muscle of interventricular septum|interventricular septum cardiac muscle|interventricular septum myocardium|cardiac muscle tissue of interventricular septum|interventricular septum muscle MONDO:0018739 neonatal alloimmune neutropenia biolink:Disease mondo SCTID:14333004|Orphanet:464370|UMLS:C0272176|ICD10:P61.5 UMLS:C0272176|ORPHA:464370|SNOMEDCT:14333004 http://purl.obolibrary.org/obo/MONDO_0018739 ordo_disease MONDO:0018734 verrucous hemangioma biolink:Disease mondo ICDO:9142/0|UMLS:C0334540|ICD10:D18.0|Orphanet:464318|DOID:470|UMLS:CN242156|NCIT:C4299 A skin hemangioma characterized by the presence of epidermal hyperplasia. UMLS:C0334540|UMLS:CN242156|DOID:470|ORPHA:464318|NCIT:C4299 http://purl.obolibrary.org/obo/MONDO_0018734 verrucous keratotic hemangioma (morphologic abnormality)|verrucous keratotic hemangioma ordo_disease UBERON:0003380 cardiac muscle of left atrium biolink:AnatomicalEntity mondo A portion of cardiac muscle tissue that is part of a left atrium [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003380 textus muscularis of myocardium of left atrium|textus muscularis of myocardium of cardiac left atrium|cardiac muscle of cardiac left atrium|cardiac left atrium cardiac muscle tissue|myocardium of left atrium|left atrium myocardium|cardiac muscle of heart left atrium|textus muscularis of myocardium of heart left atrium|textus muscularis of myocardium of left cardiac atrium|cardiac muscle of left atrium of heart|textus muscularis of myocardium of left atrium of heart|cardiac left atrium cardiac muscle|left atrium heart muscle MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation biolink:Disease mondo Orphanet:464311|UMLS:CN242084 UMLS:CN242084|ORPHA:464311 http://purl.obolibrary.org/obo/MONDO_0018733 DYRK1A-related intellectual disability syndrome due to a point mutation ordo_clinical_subtype UBERON:0003381 cardiac muscle of right ventricle biolink:AnatomicalEntity mondo A portion of cardiac muscle tissue that is part of a right ventricle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003381 right ventricular cardiac muscle tissue|right ventricle cardiac muscle|cardiac muscle tissue of right ventricle MONDO:0018736 kaposiform lymphangiomatosis biolink:Disease mondo ICD10:D18.1|Orphanet:464329 A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells. ORPHA:464329 http://purl.obolibrary.org/obo/MONDO_0018736 KLA ordo_disease MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome biolink:Disease mondo ICD10:D18.1|GARD:0010467|UMLS:CN242151|Orphanet:464321|NCIT:C60672 Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas. UMLS:CN242151|ORPHA:464321|NCIT:C60672 http://purl.obolibrary.org/obo/MONDO_0018735 cutaneovisceral angiomatosis-thrombocytopenia syndrome|MLT1|MLT|multifocal lymphangioendotheliomatosis with thrombocytopenia|MALT1 wt allele|mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele|DKFZp434L132 ordo_disease MONDO:0018730 rare genetic venous malformation biolink:Disease mondo UMLS:CN241790|Orphanet:459548 An instance of rare venous malformation that is caused by a modification of the individual's genome. UMLS:CN241790|ORPHA:459548 http://purl.obolibrary.org/obo/MONDO_0018730 genetic rare venous malformation obsoletion_candidate|ordo_group_of_disorders MONDO:0018732 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018732 CHEBI:24913 isoprenoid biolink:ChemicalSubstance mondo Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives. http://purl.obolibrary.org/obo/CHEBI_24913 isoprenoid|isoprenoids|isoprenoids MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome biolink:Disease mondo Orphanet:459787 ORPHA:459787 http://purl.obolibrary.org/obo/MONDO_0018731 ordo_group_of_disorders NCBITaxon:33743 Kyasanur Forest disease virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33743 UBERON:0003388 mesothelium of pericardial cavity biolink:AnatomicalEntity mondo A mesothelium that is part of a pericardium [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003388 pericardial cavity mesothelium|cavity of pericardial sac mesothelium|pericardial cavity meso-epithelium|cavity of pericardial sac meso-epithelium|meso-epithelium of pericardial cavity|meso-epithelium of cavity of pericardial sac|mesothelium of cavity of pericardial sac ECTO:9001640 electron donor exposure biolink:OntologyClass mondo An exposure to electron donor. http://purl.obolibrary.org/obo/ECTO_9001640 exposure to electron donor HGNC:14262 AUTS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14262 UBERON:0003389 mesothelium of diaphragm biolink:AnatomicalEntity mondo A mesothelium that is part of a diaphragm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003389 meso-epithelium of diaphragm|thoracic diaphragm mesothelium|thoracic diaphragm meso-epithelium|diaphragm mesothelium|diaphragm meso-epithelium|mesothelium of thoracic diaphragm|meso-epithelium of thoracic diaphragm UBERON:0003386 smooth muscle of eye biolink:AnatomicalEntity mondo any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi http://purl.obolibrary.org/obo/UBERON_0003386 ocular smooth muscle HGNC:14263 RAB23 biolink:OntologyClass mondo http://identifiers.org/hgnc/14263 UBERON:0003387 smooth muscle of trachea biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a trachea [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003387 tracheal smooth muscle|trachea smooth muscle MONDO:0004159 pancreatic non-invasive mucinous cystadenocarcinoma biolink:Disease mondo DOID:7237|NCIT:C41245|ICDO:8470/2|UMLS:C1518874 A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis. UMLS:C1518874|NCIT:C41245|DOID:7237 http://purl.obolibrary.org/obo/MONDO_0004159 MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma biolink:Disease mondo DOID:7236|NCIT:C41246|ICDO:8470/3|UMLS:C1518870 A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component. UMLS:C1518870|DOID:7236|NCIT:C41246 http://purl.obolibrary.org/obo/MONDO_0004158 pancreatic invasive mucinous cystadenocarcinoma|pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma|pancreatic mucinous cystic neoplasm with an associated invasive carcinoma HGNC:26219 FUZ biolink:OntologyClass mondo http://identifiers.org/hgnc/26219 MONDO:0004155 adult central nervous system embryonal carcinoma biolink:Disease mondo DOID:7233|NCIT:C5790|UMLS:C1370503 A embryonal carcinoma of the central nervous system that occurs in an adult. UMLS:C1370503|NCIT:C5790|DOID:7233 http://purl.obolibrary.org/obo/MONDO_0004155 adult CNS embryonal carcinoma|adult central nervous system embryonal carcinoma|embryonal carcinoma of the adult central nervous system|embryonal carcinoma of the central nervous system of adults|adult embryonal carcinoma of the central nervous system|Central nervous system embryonal carcinoma|embryonal carcinoma of adult central nervous system|embryonal carcinoma of the adult CNS|embryonal carcinoma of adult CNS MONDO:0004154 obsolete central nervous system embryonal carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004154 MONDO:0004157 obsolete pancreatic mucinous cystadenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004157 MONDO:0004156 pancreatic mucinous cystadenocarcinoma biolink:Disease mondo DOID:7234|NCIT:C5713|UMLS:C1335308 A mucinous cystadenocarcinoma that involves the pancreas. NCIT:C5713|UMLS:C1335308|DOID:7234 http://purl.obolibrary.org/obo/MONDO_0004156 colloidal Cystadencarcinoma of the pancreas|pancreatic colloid cystadenocarcinoma|mucinous Cystadencarcinoma of pancreas|pancreatic colloid Cystadencarcinoma|colloid Cystadencarcinoma of pancreas|colloid Cystadencarcinoma of the pancreas|pancreatic mucinous cystadenocarcinoma|mucinous Cystadencarcinoma of the pancreas|pancreatic colloidal Cystadencarcinoma|colloidal Cystadencarcinoma of pancreas MONDO:0004151 spinal meninges cancer biolink:Disease mondo ICD9:192.3|SCTID:363476006|ICD10:C70.1|UMLS:C0153647|DOID:7224 A malignant neoplasm involving the meninx of spinal cord. DOID:7224|UMLS:C0153647|SNOMEDCT:363476006 http://purl.obolibrary.org/obo/MONDO_0004151 meninx of spinal cord cancer|malignant meninx of spinal cord neoplasm|malignant neoplasm of meninx of spinal cord|malignant neoplasm of spinal meninges|cancer of meninx of spinal cord MONDO:0004150 breast giant fibroadenoma biolink:Disease mondo DOID:7223|SCTID:254846003|NCIT:C4273|ICDO:9016/0|UMLS:C0346157|UMLS:C0334500 A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity. NCIT:C4273|UMLS:C0346157|DOID:7223|UMLS:C0334500|SNOMEDCT:254846003 http://purl.obolibrary.org/obo/MONDO_0004150 giant fibroadenoma of the breast|breast giant fibroadenoma|giant breast fibroadenoma|giant fibroadenoma|giant fibroadenoma of breast MONDO:0004153 childhood central nervous system embryonal carcinoma biolink:Disease mondo UMLS:C1377605|DOID:7231|NCIT:C6208 An embryonal carcinoma that arises from the central nervous system and occurs during childhood. UMLS:C1377605|DOID:7231|NCIT:C6208 http://purl.obolibrary.org/obo/MONDO_0004153 childhood CNS embryonal cell carcinoma|embryonal carcinoma of the pediatric CNS|pediatric central nervous system embryonal carcinoma|embryonal carcinoma of childhood central nervous system|pediatric embryonal carcinoma of the central nervous system|pediatric embryonal carcinoma of the central nervous system|embryonal carcinoma of the childhood central nervous system|embryonal carcinoma of the childhood CNS|embryonal carcinoma of the central nervous system of childhood|childhood embryonal carcinoma of the central nervous system|embryonal carcinoma of childhood CNS|embryonal carcinoma of pediatric central nervous system|embryonal carcinoma of the pediatric central nervous system|childhood central nervous system embryonal carcinoma|embryonal carcinoma of pediatric CNS|pediatric CNS embryonal cell carcinoma MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation biolink:Disease mondo UMLS:C1333037|DOID:7230|NCIT:C37201 A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years. NCIT:C37201|DOID:7230|UMLS:C1333037 http://purl.obolibrary.org/obo/MONDO_0004152 CLL/SLL with IGVH SHM|chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation|postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0016148 qualitative or quantitative defects of collagen 6 biolink:Disease mondo Orphanet:207090 ORPHA:207090 http://purl.obolibrary.org/obo/MONDO_0016148 qualitative or quantitative defects of collagen type 6 ordo_group_of_disorders MONDO:0016149 qualitative or quantitative defects of merosin biolink:Disease mondo Orphanet:207094 ORPHA:207094 http://purl.obolibrary.org/obo/MONDO_0016149 ordo_group_of_disorders MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan biolink:Disease mondo GARD:0001799|UMLS:CN072428|Orphanet:207070 ORPHA:207070|UMLS:CN072428 http://purl.obolibrary.org/obo/MONDO_0016144 delta-sarcoglycanopathy gard_rare|ordo_group_of_disorders MONDO:0016145 qualitative or quantitative defects of dysferlin biolink:Disease mondo UMLS:C2931687|MESH:C537995|GARD:0002003|GARD:0002031|Orphanet:207073 UMLS:C2931687|MESH:C537995|ORPHA:207073 http://purl.obolibrary.org/obo/MONDO_0016145 dysferlinopathy gard_rare|ordo_group_of_disorders NCBITaxon:128827 Erysipelotrichaceae organism taxon mondo PMID:14742484|PMID:27270136|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_128827 Erysipelothrixaceae|Erysipelothrix group MONDO:0016146 caveolinopathy biolink:Disease mondo Orphanet:207078|UMLS:CN043575 A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals ORPHA:207078|UMLS:CN043575 http://purl.obolibrary.org/obo/MONDO_0016146 qualitative or quantitative defects of caveolin-3 ordo_group_of_disorders HGNC:14234 NSD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14234 MONDO:0016147 qualitative or quantitative defects of dystrophin biolink:Disease mondo UMLS:CN043595|Orphanet:207085 ORPHA:207085|UMLS:CN043595 http://purl.obolibrary.org/obo/MONDO_0016147 dystrophinopathy ordo_group_of_disorders MONDO:0016140 sarcoglycanopathy biolink:Disease mondo Orphanet:207052|MESH:D058088 Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. MESH:D058088|ORPHA:207052 http://purl.obolibrary.org/obo/MONDO_0016140 qualitative or quantitative defects of sarcoglycan ordo_group_of_disorders MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan biolink:Disease mondo Orphanet:207060 ORPHA:207060 http://purl.obolibrary.org/obo/MONDO_0016141 alpha-sarcoglycanopathy ordo_group_of_disorders MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan biolink:Disease mondo UMLS:C2930900|HGNC:10806|Orphanet:207063|MESH:C535435|GARD:0000870 UMLS:C2930900|ORPHA:207063|MESH:C535435 http://purl.obolibrary.org/obo/MONDO_0016142 beta-sarcoglycanopathy gard_rare|ordo_group_of_disorders MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan biolink:Disease mondo Orphanet:207067 ORPHA:207067 http://purl.obolibrary.org/obo/MONDO_0016143 gamma-sarcoglycanopathy ordo_group_of_disorders HGNC:16892 CD96 biolink:OntologyClass mondo http://identifiers.org/hgnc/16892 MONDO:0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy biolink:Disease mondo UMLS:CN776855|Orphanet:477765 UMLS:CN776855|ORPHA:477765 http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy ordo_group_of_disorders MONDO:0004169 premenstrual tension biolink:Disease mondo UMLS:C0376356|ICD9:625.4|ICD10:N94.3|MESH:D011293|DOID:727 A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses. UMLS:C0376356|DOID:727|MESH:D011293 http://purl.obolibrary.org/obo/MONDO_0004169 MONDO:0004166 hereditary fallopian tube carcinoma biolink:Disease mondo DOID:7266|NCIT:C40455|UMLS:C1512418 Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma. DOID:7266|NCIT:C40455|UMLS:C1512418 http://purl.obolibrary.org/obo/MONDO_0004166 familiar fallopian tube carcinoma|hereditary fallopian tube cancer|hereditary fallopian tube carcinoma|familial fallopian tube carcinoma MONDO:0004165 selective IgD deficiency disease biolink:Disease mondo UMLS:C0398695|NCIT:C27144|DOID:7263|ICD9:279.03|SCTID:234541006 A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection. DOID:7263|SNOMEDCT:234541006|UMLS:C0398695|NCIT:C27144 http://purl.obolibrary.org/obo/MONDO_0004165 selective IgD immunodeficiency|selective immunoglobulin D deficiency MONDO:0004168 cribriform variant testicular seminoma biolink:Disease mondo DOID:7269|UMLS:C1515292|NCIT:C40957 A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes. UMLS:C1515292|DOID:7269|NCIT:C40957 http://purl.obolibrary.org/obo/MONDO_0004168 testicular seminoma, cribriform variant MONDO:0004167 obsolete lung clear cell carcinoma biolink:Disease mondo SCTID:254630009|UMLS:C0345959|DOID:7267 DOID:7267|SNOMEDCT:254630009|UMLS:C0345959 http://purl.obolibrary.org/obo/MONDO_0004167 HGNC:28887 LEMD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/28887 MONDO:0004162 uterine corpus cellular leiomyoma biolink:Disease mondo DOID:7242|UMLS:C1519845|NCIT:C40163 A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. DOID:7242|NCIT:C40163|UMLS:C1519845 http://purl.obolibrary.org/obo/MONDO_0004162 uterine corpus cellular leiomyoma|body of uterus cellular leiomyoma|cellular leiomyoma of body of uterus HGNC:28880 MAGT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/28880 MONDO:0004161 uterine corpus apoplectic leiomyoma biolink:Disease mondo DOID:7241|NCIT:C40165|UMLS:C1519852 A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives. DOID:7241|NCIT:C40165|UMLS:C1519852 http://purl.obolibrary.org/obo/MONDO_0004161 uterine corpus leiomyoma with apoplectic change|uterine corpus hemorrhagic cellular leiomyoma MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma biolink:Disease mondo NCIT:C39885|UMLS:C1515864|DOID:7246 A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates. NCIT:C39885|DOID:7246|UMLS:C1515864 http://purl.obolibrary.org/obo/MONDO_0004164 lymphoepithelioma-like variant acinar prostate adenocarcinoma|acinar prostate adenocarcinoma, lymphoepithelioma-like variant MONDO:0004163 bladder urachal urothelial carcinoma biolink:Disease mondo DOID:7244|UMLS:C1511207|NCIT:C39844 A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium. NCIT:C39844|DOID:7244|UMLS:C1511207 http://purl.obolibrary.org/obo/MONDO_0004163 bladder urachal urothelial carcinoma HGNC:28883 PPA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/28883 HGNC:26222 FAR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26222 MONDO:0004160 female stress incontinence biolink:Disease mondo COHD:195007|ICD9:625.6|UMLS:C0038437|NCIT:C35042|DOID:724 The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause. NCIT:C35042|UMLS:C0038437|DOID:724 http://purl.obolibrary.org/obo/MONDO_0004160 female urinary stress incontinence|stress incontinence - female ECTO:9001627 inorganic acid exposure biolink:OntologyClass mondo An exposure to inorganic acid. http://purl.obolibrary.org/obo/ECTO_9001627 exposure to inorganic acid MONDO:0016137 acute and subacute inflammatory demyelinating polyneuropathy biolink:Disease mondo Orphanet:207038 ORPHA:207038 http://purl.obolibrary.org/obo/MONDO_0016137 acute and subacute inflammatory demyelinating polyradiculoneuropathy ordo_group_of_disorders MONDO:0018799 obsolete rare hypercholesterolemia biolink:Disease mondo UMLS:CN776861|Orphanet:477811 Rare hypercholesterolemia. ORPHA:477811|UMLS:CN776861 http://purl.obolibrary.org/obo/MONDO_0018799 rare hypercholesterolemia obsoletion_candidate|ordo_group_of_disorders MONDO:0016138 malignant lymphoma with peripheral neuropathy biolink:Disease mondo Orphanet:207046 ORPHA:207046 http://purl.obolibrary.org/obo/MONDO_0016138 ordo_group_of_disorders UBERON:1000004 collection of hair on external ear biolink:AnatomicalEntity mondo A collection of hairs that grows on the external ear. http://purl.obolibrary.org/obo/UBERON_1000004 external ear hair MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases biolink:Disease mondo Orphanet:207049|UMLS:CN200901 ORPHA:207049|UMLS:CN200901 http://purl.obolibrary.org/obo/MONDO_0016139 ordo_group_of_disorders ECTO:9001628 gas molecular entity exposure biolink:OntologyClass mondo An exposure to gas molecular entity. http://purl.obolibrary.org/obo/ECTO_9001628 exposure to gas molecular entity MONDO:0016133 rare hereditary metabolic disease with peripheral neuropathy biolink:Disease mondo Orphanet:207018|UMLS:CN200897 ORPHA:207018|UMLS:CN200897 http://purl.obolibrary.org/obo/MONDO_0016133 obsoletion_candidate|ordo_group_of_disorders MONDO:0018796 isolated constitutional thrombocytopenia biolink:Disease mondo Orphanet:477797 ORPHA:477797 http://purl.obolibrary.org/obo/MONDO_0018796 Cconstitutional thrombocytopenia without extra-hematopoietic manifestation|non-syndromic constitutional thrombocytopenia ordo_group_of_disorders MONDO:0016134 rare hereditary systemic disease with peripheral neuropathy biolink:Disease mondo UMLS:CN200898|Orphanet:207021 ORPHA:207021|UMLS:CN200898 http://purl.obolibrary.org/obo/MONDO_0016134 ordo_group_of_disorders|obsoletion_candidate MONDO:0018795 syndromic constitutional thrombocytopenia biolink:Disease mondo Orphanet:477794|UMLS:CN776900 UMLS:CN776900|ORPHA:477794 http://purl.obolibrary.org/obo/MONDO_0018795 ordo_group_of_disorders HGNC:14244 RAB18 biolink:OntologyClass mondo http://identifiers.org/hgnc/14244 MONDO:0018798 other genetic dermis disorder biolink:Disease mondo Orphanet:477808|UMLS:CN776936 ORPHA:477808|UMLS:CN776936 http://purl.obolibrary.org/obo/MONDO_0018798 ordo_group_of_disorders|obsoletion_candidate NCBITaxon:1884633 Cryptococcaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1884633 MONDO:0016135 rare hereditary neurologic disease with peripheral neuropathy biolink:Disease mondo Orphanet:207025|UMLS:CN200899 ORPHA:207025|UMLS:CN200899 http://purl.obolibrary.org/obo/MONDO_0016135 ordo_group_of_disorders|obsoletion_candidate MONDO:0018797 obsolete genetic cardiac malformation biolink:Disease mondo Orphanet:477805 ORPHA:477805 http://purl.obolibrary.org/obo/MONDO_0018797 ordo_group_of_disorders MONDO:0016136 cerebellar ataxia with peripheral neuropathy biolink:Disease mondo Orphanet:207028|ICD10:G60.2 ORPHA:207028 http://purl.obolibrary.org/obo/MONDO_0016136 ordo_group_of_disorders MONDO:0018792 obsolete Moyamoya syndrome biolink:Disease mondo UMLS:CN776904|Orphanet:477771 UMLS:CN776904|ORPHA:477771 http://purl.obolibrary.org/obo/MONDO_0018792 rare disorder with a Moyamoya angiopathy ordo_group_of_disorders MONDO:0016130 fungal myositis biolink:Disease mondo Orphanet:207000|SCTID:240111007|ICD10:M60.0|UMLS:C0410251 SNOMEDCT:240111007|UMLS:C0410251|ORPHA:207000 http://purl.obolibrary.org/obo/MONDO_0016130 ordo_disease MONDO:0018791 Moyomoya angiopathy biolink:Disease mondo Orphanet:477768 ORPHA:477768 http://purl.obolibrary.org/obo/MONDO_0018791 ordo_group_of_disorders MONDO:0016131 spinal muscular atrophy associated with central nervous system anomaly biolink:Disease mondo Orphanet:207012 ORPHA:207012 http://purl.obolibrary.org/obo/MONDO_0016131 ordo_group_of_disorders MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder biolink:Disease mondo Orphanet:477787|OMIM:618372|UMLS:CN776897 UMLS:CN776897|http://identifiers.org/omim/618372|ORPHA:477787 http://purl.obolibrary.org/obo/MONDO_0018794 platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency|Phospholipase A2, Group Iva, Deficiency of|PLA2G4A-related platelet dysfunction|GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP ordo_disease NCBITaxon:1884637 Cryptococcus gattii species complex organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1884637 MONDO:0018793 primary condylar hyperplasia biolink:Disease mondo Orphanet:477781 ORPHA:477781 http://purl.obolibrary.org/obo/MONDO_0018793 type 1 condylar hyperplasia ordo_disease MONDO:0016132 rare hereditary disease with peripheral neuropathy biolink:Disease mondo Orphanet:207015 ORPHA:207015 http://purl.obolibrary.org/obo/MONDO_0016132 ordo_group_of_disorders|obsoletion_candidate MONDO:0004137 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004137 MONDO:0004136 ovarian endometrioid cystadenoma biolink:Disease mondo DOID:7191|UMLS:C1518713|NCIT:C40075 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells. UMLS:C1518713|DOID:7191|NCIT:C40075 http://purl.obolibrary.org/obo/MONDO_0004136 ovarian endometrioid cystadenoma MONDO:0006798 hypervitaminosis A biolink:Disease mondo ICD9:278.2|COHD:436941|EFO:1000978|UMLS:C0020579|MESH:D006986|ICD10:E67.0|DOID:9972|MedDRA:10020916|SCTID:64559002 A symptom complex resulting from ingesting excessive amounts of vitamin A. SNOMEDCT:64559002|MESH:D006986|UMLS:C0020579|DOID:9972 http://purl.obolibrary.org/obo/MONDO_0006798 hypervitaminosis type A CHEBI:73913 antifolate biolink:ChemicalSubstance mondo An antimetabolite that impairs the action of folic acids http://purl.obolibrary.org/obo/CHEBI_73913 antifolates|folic acid antagonist|folic acid antagonists MONDO:0004139 normocytic anemia biolink:Disease mondo UMLS:C0085577|DOID:720|ICD9:285.8|NCIT:C35142|SCTID:300980002 Anemia in which the red blood cell volume is normal. DOID:720|SNOMEDCT:300980002|NCIT:C35142|UMLS:C0085577 http://purl.obolibrary.org/obo/MONDO_0004139 anemia normocytic|normocytic Anemia MONDO:0006799 hypothalamic neoplasm biolink:Disease mondo MESH:D007029|UMLS:C0020659|EFO:1000979|NCIT:C3129|SCTID:254968009|DOID:3644 A primary or metastatic neoplasm that affects the hypothalamus. MESH:D007029|DOID:3644|NCIT:C3129|UMLS:C0020659|SNOMEDCT:254968009 http://purl.obolibrary.org/obo/MONDO_0006799 hypothalamus neoplasm|tumor of hypothalamus|neoplasm of the hypothalamus|hypothalamus tumor|hypothalamic tumor|neoplasm of hypothalamus|hypothalamic neoplasms|tumor of the hypothalamus MONDO:0004138 obsolete maxillary sinus adenoid cystic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004138 MONDO:0006796 hypertensive encephalopathy biolink:Disease mondo UMLS:C0151620|ICD9:437.2|DOID:9427|SCTID:50490005|ICD10:I67.4|NCIT:C3503|EFO:1000976|COHD:312938|MESH:D020343|MedDRA:10020803 Encephalopathy resulting from hypertension. DOID:9427|MESH:D020343|NCIT:C3503|SNOMEDCT:50490005|UMLS:C0151620 http://purl.obolibrary.org/obo/MONDO_0006796 MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma biolink:Disease mondo UMLS:C0334312|DOID:7179|NCIT:C4148|ICDO:8281/0 An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes. NCIT:C4148|UMLS:C0334312|DOID:7179 http://purl.obolibrary.org/obo/MONDO_0004133 mixed acidophil-basophil adenoma|mixed acidophil-basophil adenoma (morphologic abnormality)|mixed eosinophil-basophil adenoma|pituitary gland mixed acidophil-basophil adenoma MONDO:0004132 anal canal squamous cell carcinoma biolink:Disease mondo UMLS:C1332262|Orphanet:424019|NCIT:C7469|ICD10:C21.1|DOID:7177 A squamous cell carcinoma arising from the mucosa of the anal canal. NCIT:C7469|DOID:7177|ORPHA:424019|UMLS:C1332262 http://purl.obolibrary.org/obo/MONDO_0004132 anal canal squamous cell carcinoma|squamous cell carcinoma of the anal canal ordo_disease MONDO:0006797 hypertensive retinopathy biolink:Disease mondo SCTID:6962006|MESH:D058437|ICD10:H35.03|ICD9:362.11|EFO:1000977|MedDRA:10020839|DOID:11561|COHD:376965|NCIT:C3514|UMLS:C0152132 Retinopathy due to hypertension. DOID:11561|SNOMEDCT:6962006|MESH:D058437|UMLS:C0152132|NCIT:C3514 http://purl.obolibrary.org/obo/MONDO_0006797 HGNC:28852 SYCE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/28852 MONDO:0006794 hypersensitivity vasculitis biolink:Disease mondo ICD10:D69.0|NCIT:C82863|ICD9:446.20|SCTID:60555002|ICD9:446.2|ICD9:446.29|EFO:1000974|ICD10:M31.0|DOID:9809|MedDRA:10020764 A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. SNOMEDCT:60555002|DOID:9809|NCIT:C82863 http://purl.obolibrary.org/obo/MONDO_0006794 leukocytoclastic vasculitis MONDO:0004135 subacute lymphocytic thyroiditis biolink:Disease mondo UMLS:C1306804|NCIT:C35829|SCTID:361126006|DOID:7187|UMLS:C0271814 Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function. SNOMEDCT:361126006|DOID:7187|UMLS:C1306804|UMLS:C0271814|NCIT:C35829 http://purl.obolibrary.org/obo/MONDO_0004135 Subacute lymphocytic thyroiditis|Subacute painless thyroiditis|silent thyroiditis MONDO:0006795 hypersplenism (disease) biolink:Disease mondo SCTID:58381000|ICD10:D73.1|HP:0001971|NCIT:C34714|UMLS:C0020532|EFO:1000975|DOID:6376|ICD9:289.4|MedDRA:10020769|COHD:192298|MESH:D006971 Overactive functioning of the spleen, resulting in excessive destruction of blood cells. MESH:D006971|SNOMEDCT:58381000|UMLS:C0020532|DOID:6376|NCIT:C34714 http://purl.obolibrary.org/obo/MONDO_0006795 hypersplenia|hypersplenism MONDO:0004134 benign dermal neurilemmoma biolink:Disease mondo UMLS:C1332490|NCIT:C5569|DOID:7181 NCIT:C5569|DOID:7181|UMLS:C1332490 http://purl.obolibrary.org/obo/MONDO_0004134 benign skin schwannoma|benign neurilemmoma of skin|benign neurilemmoma of the skin|benign schwannoma of skin|benign schwannoma of the skin|benign dermal schwannoma|benign skin neurilemmoma MONDO:0006792 hyperglobulinemic purpura biolink:Disease mondo MESH:D011694|DOID:3325|UMLS:C0034151|EFO:1000972|SCTID:402852007 Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years. MESH:D011694|UMLS:C0034151|SNOMEDCT:402852007|DOID:3325 http://purl.obolibrary.org/obo/MONDO_0006792 MONDO:0006793 hyperpituitarism biolink:Disease mondo MESH:D006964|DOID:2444|MedDRA:10020716|COHD:26378|UMLS:C0020506|EFO:1000973|ICD9:253.1|SCTID:10649000 Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. DOID:2444|MESH:D006964|UMLS:C0020506|SNOMEDCT:10649000 http://purl.obolibrary.org/obo/MONDO_0006793 clingen MONDO:0004131 anal verrucous carcinoma biolink:Disease mondo DOID:7175|NCIT:C7470|UMLS:C1332278 A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma. NCIT:C7470|DOID:7175|UMLS:C1332278 http://purl.obolibrary.org/obo/MONDO_0004131 anal verrucous carcinoma|anal giant (malignant) condyloma|anal Buschke-Lowenstein tumor MONDO:0006790 hypercementosis biolink:Disease mondo ICD10:K03.4|UMLS:C0020441|GARD:0006692|ICD9:521.5|MESH:D006936|DOID:12733|MedDRA:10020596|SCTID:78537008|EFO:1000970|COHD:442576 A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed) MESH:D006936|DOID:12733|SNOMEDCT:78537008|UMLS:C0020441 http://purl.obolibrary.org/obo/MONDO_0006790 cementation hyperplasia gard_rare MONDO:0004130 anus basaloid carcinoma biolink:Disease mondo UMLS:C0280470|NCIT:C8256|DOID:7174 An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading. UMLS:C0280470|DOID:7174|NCIT:C8256 http://purl.obolibrary.org/obo/MONDO_0004130 basaloid carcinoma of anus|anus basaloid squamous cell carcinoma|anal basaloid carcinoma|basaloid carcinoma of the anus MONDO:0006791 hyperemesis gravidarum (disease) biolink:Disease mondo HP:0012188|MedDRA:10020614|SCTID:14094001|EFO:1000971|MESH:D006939 Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances. MESH:D006939|SNOMEDCT:14094001|NCIT:C87084 http://purl.obolibrary.org/obo/MONDO_0006791 hyperemesis gravidarum|pregnancy pernicious vomiting|pernicious vomiting of pregnancy MONDO:0016126 viral myositis biolink:Disease mondo UMLS:C0150005|ICD10:M60.0|SCTID:240105009|MedDRA:10051512|Orphanet:206991|ICD9:729.1 MEDDRA:10051512|ORPHA:206991|SNOMEDCT:240105009|UMLS:C0150005 http://purl.obolibrary.org/obo/MONDO_0016126 ordo_disease MONDO:0018789 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy biolink:Disease mondo Orphanet:477762|UMLS:CN776856 ORPHA:477762|UMLS:CN776856 http://purl.obolibrary.org/obo/MONDO_0018789 COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy ordo_group_of_disorders HGNC:16877 MFN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16877 HGNC:16876 ARNT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16876 MONDO:0018788 COL4A1 or COL4A2-related cerebral small vessel disease biolink:Disease mondo Orphanet:477759|UMLS:CN776854 ORPHA:477759|UMLS:CN776854 http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral angiopathy ordo_group_of_disorders MONDO:0016127 bacterial myositis biolink:Disease mondo ICD10:M60.0|Orphanet:206994|SCTID:30330001 ORPHA:206994|SNOMEDCT:30330001 http://purl.obolibrary.org/obo/MONDO_0016127 ordo_disease MONDO:0016128 parasitic myositis biolink:Disease mondo ICD9:728.2|UMLS:C0263997|Orphanet:206997|ICD10:M60.0|SCTID:60970005 SNOMEDCT:60970005|UMLS:C0263997|ORPHA:206997 http://purl.obolibrary.org/obo/MONDO_0016128 ordo_group_of_disorders NCBITaxon:1639119 Plasmodiidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1639119 MONDO:0016129 eosinophilic gastroenteritis biolink:Disease mondo SCTID:359804008|NCIT:C35330|ICD10:K52.8|DOID:4031|MedDRA:10017902|UMLS:C1262481|ICD9:558.41|Orphanet:2070|COHD:443406|GARD:0009142 Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall. DOID:4031|SNOMEDCT:359804008|MEDDRA:10017902|MESH:C535952|UMLS:C1262481|ORPHA:2070|NCIT:C35330 http://purl.obolibrary.org/obo/MONDO_0016129 eosinophilic gastroenteritis|eosinophilic enteritis|EGE|eosinophilic gastroenterocolitis ordo_disease MONDO:0016122 periodic paralysis (disease) biolink:Disease mondo HP:0003768|Orphanet:206976|UMLS:C1279412|MedDRA:10016208|ICD10:G72.3|UMLS:CN231077 MEDDRA:10016208|MESH:D010245|ORPHA:206976|UMLS:CN231077|UMLS:C1279412|UMLS:C0030443 http://purl.obolibrary.org/obo/MONDO_0016122 periodic paralysis ordo_group_of_disorders MONDO:0018785 obsolete nodular fasciitis biolink:Disease mondo A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. http://purl.obolibrary.org/obo/MONDO_0018785 HGNC:16873 FIG4 biolink:OntologyClass mondo http://identifiers.org/hgnc/16873 MONDO:0018784 pediatric multiple sclerosis biolink:Disease mondo Orphanet:477738|UMLS:CN037005|GARD:0010443 Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. ORPHA:477738|UMLS:CN037005 http://purl.obolibrary.org/obo/MONDO_0018784 MS pediatric|multiple sclerosis, pediatric|pediatric MS gard_rare|ordo_disease MONDO:0016123 muscular tumor biolink:Disease mondo Orphanet:206982 ORPHA:206982 http://purl.obolibrary.org/obo/MONDO_0016123 ordo_group_of_disorders HGNC:14211 BLNK biolink:OntologyClass mondo http://identifiers.org/hgnc/14211 MONDO:0018787 genetic cerebral small vessel disease biolink:Disease mondo Orphanet:477754|UMLS:CN776941 ORPHA:477754|UMLS:CN776941 http://purl.obolibrary.org/obo/MONDO_0018787 ordo_group_of_disorders MONDO:0016124 obsolete drug and/or toxic myopathy biolink:Disease mondo Orphanet:206985 ORPHA:206985 http://purl.obolibrary.org/obo/MONDO_0016124 MONDO:0018786 pontine autosomal dominant microangiopathy with leukoencephalopathy biolink:Disease mondo Orphanet:477749 ORPHA:477749 http://purl.obolibrary.org/obo/MONDO_0018786 PADMAL ordo_disease MONDO:0016125 infectious, fungal or parasitic myopathy biolink:Disease mondo Orphanet:206988|ICD10:M60.0 ORPHA:206988 http://purl.obolibrary.org/obo/MONDO_0016125 ordo_group_of_disorders MONDO:0018781 KID syndrome biolink:Disease mondo OMIMPS:148210|Orphanet:477|ICD9:759.89|ICD10:Q80.8|UMLS:C0265336|MedDRA:10048786|GARD:0003113|SCTID:2625009|UMLS:CN205136 Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. UMLS:CN205136|SNOMEDCT:2625009|MEDDRA:10048786|UMLS:C0265336|ORPHA:477 http://purl.obolibrary.org/obo/MONDO_0018781 KID/HID syndrome|ichthyosis hystrix Rheydt type|keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome|keratitis, ichthyosis, and deafness (KID) syndrome|Senter syndrome ordo_disease|ordo_inheritance_inconsistent MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome biolink:Disease mondo Orphanet:476406 ORPHA:476406 http://purl.obolibrary.org/obo/MONDO_0018780 ordo_disease MONDO:0016120 myotonic syndrome biolink:Disease mondo ICD10:G71.1|Orphanet:206970|MedDRA:10028658|MESH:D020967 UMLS:C0553604|MEDDRA:10028658|ORPHA:206970|MESH:D020967 http://purl.obolibrary.org/obo/MONDO_0016120 ordo_group_of_disorders MONDO:0018783 fibroblastic rheumatism biolink:Disease mondo Orphanet:477650|UMLS:C1302753|ICD9:729.0|SCTID:399964004 SNOMEDCT:399964004|UMLS:C1302753|ORPHA:477650 http://purl.obolibrary.org/obo/MONDO_0018783 ordo_disease MONDO:0016121 congenital myotonia biolink:Disease mondo Orphanet:206973|ICD10:G71.1 ORPHA:206973 http://purl.obolibrary.org/obo/MONDO_0016121 ordo_group_of_disorders MONDO:0018782 type 1 interferonopathy biolink:Disease mondo Orphanet:477647 ORPHA:477647 http://purl.obolibrary.org/obo/MONDO_0018782 ordo_group_of_disorders MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma biolink:Disease mondo DOID:7221|UMLS:C1333753|NCIT:C5743|ICDO:8503/3 An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma. NCIT:C5743|DOID:7221|UMLS:C1333753 http://purl.obolibrary.org/obo/MONDO_0004148 gall bladder papillary carcinoma|papillary carcinoma of gallbladder|gallbladder papillary neoplasm with an associated invasive carcinoma|intracystic papillary neoplasm with an associated invasive carcinoma|gallbladder papillary carcinoma|papillary carcinoma of the gallbladder|gallbladder papillary neoplasm with an associated invasive cancer MONDO:0004147 noninvasive malignant thymoma biolink:Disease mondo DOID:7214|NCIT:C9080|UMLS:C0278847 A morphologically malignant thymoma that is entirely confined within the capsule. UMLS:C0278847|DOID:7214|NCIT:C9080 http://purl.obolibrary.org/obo/MONDO_0004147 malignant thymoma, noninvasive|thymoma malignant noninvasive HGNC:28867 IGF2BP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/28867 MONDO:0004149 gallbladder pleomorphic giant cell adenocarcinoma biolink:Disease mondo DOID:7222 DOID:7222 http://purl.obolibrary.org/obo/MONDO_0004149 pleomorphic giant cell adenocarcinoma of the gallbladder MONDO:0004144 fibrous meningioma biolink:Disease mondo ICDO:9532/0|UMLS:C0334606|NCIT:C4330|DOID:7211|EFO:1000258 A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix. NCIT:C4330|DOID:7211|UMLS:C0334606 http://purl.obolibrary.org/obo/MONDO_0004144 fibroblastic meningioma|fibrous meningioma (morphologic abnormality) HGNC:28862 NIPBL biolink:OntologyClass mondo http://identifiers.org/hgnc/28862 MONDO:0004143 psammomatous meningioma biolink:Disease mondo UMLS:C0334607|NCIT:C4331|DOID:7210|EFO:1000500|ICDO:9533/0 A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells. NCIT:C4331|DOID:7210|UMLS:C0334607 http://purl.obolibrary.org/obo/MONDO_0004143 psammomatous meningioma (morphologic abnormality) MONDO:0004146 transitional meningioma biolink:Disease mondo DOID:7213|NCIT:C4333|EFO:1000602|UMLS:C0334611|ICDO:9537/0 A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns. NCIT:C4333|DOID:7213|UMLS:C0334611 http://purl.obolibrary.org/obo/MONDO_0004146 transitional meningioma (morphologic abnormality)|mixed meningioma|transitional (mixed) meningioma MONDO:0004145 meningothelial meningioma biolink:Disease mondo EFO:1000372|DOID:7212|ICDO:9531/0|NCIT:C4329|UMLS:C0334605 A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present. NCIT:C4329|UMLS:C0334605|DOID:7212 http://purl.obolibrary.org/obo/MONDO_0004145 meningothelial meningioma (morphologic abnormality)|Meningotheliomatous meningioma MONDO:0004140 intermediate malignant teratoma biolink:Disease mondo DOID:7202|ICDO:9083/3|NCIT:C4288|UMLS:C0334522 An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. NCIT:C4288|DOID:7202|UMLS:C0334522 http://purl.obolibrary.org/obo/MONDO_0004140 malignant teratoma, intermediate (morphologic abnormality)|Intermediate immature teratoma|malignant teratoma, intermediate MONDO:0004142 lung combined large cell neuroendocrine carcinoma biolink:Disease mondo UMLS:C1333122|NCIT:C7267|DOID:7207 A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma. DOID:7207|UMLS:C1333122|NCIT:C7267 http://purl.obolibrary.org/obo/MONDO_0004142 pulmonary combined large cell neuroendocrine carcinoma|combined large cell neuroendocrine carcinoma of lung|combined large cell neuroendocrine carcinoma of the lung|combined large cell lung neuroendocrine carcinoma MONDO:0004141 melanomatosis biolink:Disease mondo UMLS:C1334691|NCIT:C9499|DOID:7206 DOID:7206|UMLS:C1334691|NCIT:C9499 http://purl.obolibrary.org/obo/MONDO_0004141 melanomatosis HGNC:26200 STN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26200 MONDO:0016119 obsolete mitochondrial myopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016119 HP:0007858 Chorioretinal lacunae biolink:PhenotypicFeature mondo UMLS:C1844751|UMLS:C4072866 Punched out lesions in the pigmented layer of the retina. http://purl.obolibrary.org/obo/HP_0007858 Lacunar retinal depigmentation hposlim_core MONDO:0043707 mediastinal disease biolink:Disease mondo SCTID:49483002|MESH:D008477|UMLS:C0025061|NCIT:C26826 A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma. UMLS:C0025061|MESH:D008477|SNOMEDCT:49483002|NCIT:C26826 http://purl.obolibrary.org/obo/MONDO_0043707 disorder of mediastinum|disease or disorder of mediastinum|disease, mediastinal|mediastinum disease|mediastinal disorder|mediastinum disease or disorder|disorder of mediastinum|disease of mediastinum|diseases, mediastinal|mediastinal disease GO:0033490 cholesterol biosynthetic process via lathosterol biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol. http://purl.obolibrary.org/obo/GO_0033490 cholesterol formation via lathosterol|cholesterol biosynthesis via lathosterol|cholesterol anabolism via lathosterol|cholesterol synthesis via lathosterol MONDO:0018778 intermediate Charcot-Marie-Tooth disease biolink:Disease mondo DOID:0050543|UMLS:CN776860|Orphanet:476123 ORPHA:476123|DOID:0050543|UMLS:CN776860 http://purl.obolibrary.org/obo/MONDO_0018778 Charcot-Marie-Tooth disease dominant intermediate|Charcot-Marie-Tooth disease intermediate type|Intermediate hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease recessive intermediate ordo_group_of_disorders MONDO:0016115 bulbospinal muscular atrophy of adulthood biolink:Disease mondo ICD10:G12.2|Orphanet:206707 A bulbospinal muscular atrophy that occurs in an adult. ORPHA:206707 http://purl.obolibrary.org/obo/MONDO_0016115 bulbospinal muscular atrophy of adults|bulbospinal muscular atrophy of adult|adult bulbospinal muscular atrophy ordo_group_of_disorders MONDO:0016116 generalized bulbospinal muscular atrophy biolink:Disease mondo ICD10:G12.2|Orphanet:206710 ORPHA:206710 http://purl.obolibrary.org/obo/MONDO_0016116 ordo_group_of_disorders MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome biolink:Disease mondo UMLS:CN776826|Orphanet:476119 ORPHA:476119|UMLS:CN776826 http://purl.obolibrary.org/obo/MONDO_0018777 ordo_malformation_syndrome MONDO:0016117 muscular lipidosis biolink:Disease mondo SCTID:240095001|UMLS:C0410214|ICD9:359.89|Orphanet:206953 SNOMEDCT:240095001|ORPHA:206953|UMLS:C0410214 http://purl.obolibrary.org/obo/MONDO_0016117 lipid storage myopathy ordo_group_of_disorders MONDO:0018779 hypercontractile muscle stiffness syndrome biolink:Disease mondo Orphanet:476403|UMLS:CN776841 ORPHA:476403|UMLS:CN776841 http://purl.obolibrary.org/obo/MONDO_0018779 ordo_group_of_disorders MONDO:0016118 muscular glycogenosis biolink:Disease mondo Orphanet:206959|ICD10:E74.0 ORPHA:206959 http://purl.obolibrary.org/obo/MONDO_0016118 glycogen storage myopathy ordo_group_of_disorders MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome biolink:Disease mondo Orphanet:476096|UMLS:CN776912 Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. ORPHA:476096|UMLS:CN776912 http://purl.obolibrary.org/obo/MONDO_0018774 EKC syndrome ordo_disease MONDO:0016111 obsolete non-dystrophic myopathy with collagen 6 anomaly biolink:Disease mondo Orphanet:206659 ORPHA:206659 http://purl.obolibrary.org/obo/MONDO_0016111 MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome biolink:Disease mondo Orphanet:476093|UMLS:CN776822 ORPHA:476093|UMLS:CN776822 http://purl.obolibrary.org/obo/MONDO_0018773 ordo_disease MONDO:0016112 inclusion myopathy biolink:Disease mondo Orphanet:206662|ICD10:G71.8|GARD:0001658 ORPHA:206662 http://purl.obolibrary.org/obo/MONDO_0016112 cytoplasmic body myopathy ordo_group_of_disorders|gard_rare MONDO:0018776 demyelinating hereditary motor and sensory neuropathy biolink:Disease mondo Orphanet:476116 ORPHA:476116 http://purl.obolibrary.org/obo/MONDO_0018776 demyelinating HMSN ordo_group_of_disorders MONDO:0016113 bulbospinal muscular atrophy biolink:Disease mondo ICD10:G12.2|SCTID:230253001|Orphanet:206701 ORPHA:206701|SNOMEDCT:230253001 http://purl.obolibrary.org/obo/MONDO_0016113 bulbospinal muscular atrophy|spinal and bulbal muscular atrophy|SBMA|spinal-bulbar muscular atrophy ordo_group_of_disorders MONDO:0016114 bulbospinal muscular atrophy of childhood biolink:Disease mondo Orphanet:206704|ICD10:G12.2 A bulbospinal muscular atrophy that occurs during childhood. ORPHA:206704 http://purl.obolibrary.org/obo/MONDO_0016114 pediatric bulbospinal muscular atrophy|pediatric bulbospinal muscular atrophy|childhood bulbospinal muscular atrophy|bulbospinal muscular atrophy of childhood ordo_group_of_disorders MONDO:0018775 axonal hereditary motor and sensory neuropathy biolink:Disease mondo Orphanet:476109 ORPHA:476109 http://purl.obolibrary.org/obo/MONDO_0018775 axonal HMSN ordo_group_of_disorders MONDO:0018770 Jeune syndrome biolink:Disease mondo ICD10:Q77.2|MESH:C537571|DOID:0050592|OMIMPS:208500|NCIT:C84794|Orphanet:474|UMLS:C0265275|MedDRA:10057621|GARD:0003049|SCTID:75049004 Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. MEDDRA:10057621|SNOMEDCT:75049004|NCIT:C84794|MESH:C537571|UMLS:C0265275|ORPHA:474|DOID:0050592 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune's syndrome|ATD|Jeune asphyxiating thoracic dystrophy|Chondroectodermal dysplasia-like syndrome|thoracic pelvic phalangeal dystrophy|asphyxiating thoracic dystrophy of the newborn|Jeune syndrome|short-rib thoracic dysplasia with or without polydactyly|asphyxiating thoracic dystrophy|short-rib thoracic dysplasia|JATD|infantile thoracic dystrophy ordo_malformation_syndrome MONDO:0018772 Joubert syndrome biolink:Disease mondo NCIT:C74996|SCTID:716997004|ICD10:Q04.3|OMIMPS:213300|GARD:0006802|DOID:0050777|Orphanet:475 Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. DOID:0050777|NCIT:C74996|SNOMEDCT:716997004|ORPHA:475 http://purl.obolibrary.org/obo/MONDO_0018772 classic Joubert syndrome|Joubert-Boltshauser syndrome|JBTS|CPD IV|cerebelloparenchymal disorder IV|pure Joubert syndrome|cerebellar vermis agenesis|Joubert syndrome type A ordo_disease HGNC:16882 HCN4 biolink:OntologyClass mondo http://identifiers.org/hgnc/16882 MONDO:0018771 congenital anomaly of ventricular septum biolink:Disease mondo Orphanet:474347 A congenital heart malformation that involves the interventricular septum. ORPHA:474347 http://purl.obolibrary.org/obo/MONDO_0018771 congenital ventricular septal anomaly|interventricular septum congenital heart malformation|congenital heart malformation of interventricular septum|congenital anomaly of interventricular communication|rare congenital anomaly of ventricular septum ordo_group_of_disorders MONDO:0016110 non-dystrophic myopathy biolink:Disease mondo Orphanet:206656|SCTID:424795008|NCIT:C122787|UMLS:C1828221 A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness. ORPHA:206656|SNOMEDCT:424795008|UMLS:C1828221|NCIT:C122787 http://purl.obolibrary.org/obo/MONDO_0016110 non-dystrophic myotonia|non dystrophic myotonia ordo_group_of_disorders HGNC:1739 CDC45 biolink:OntologyClass mondo http://identifiers.org/hgnc/1739 CHEBI:48975 substituted aniline biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_48975 substituted anilines HGNC:1736 CDC42 biolink:OntologyClass mondo http://identifiers.org/hgnc/1736 UBERON:0003328 mesenchyme of footplate biolink:AnatomicalEntity mondo Mesenchyme that is part of a footplate. http://purl.obolibrary.org/obo/UBERON_0003328 foot plate mesenchyme UBERON:0003329 submucosa of anal canal biolink:AnatomicalEntity mondo A submucosa that is part of an anal canal [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003329 anal region submucosa|submucosa of anal canal viewed anatomically|anal canal submucosa|submucosa of anatomical anal canal|anatomical anal canal submucosa|submucosa of anal region|anal canal viewed anatomically submucosa NCBITaxon:1980486 Puumala orthohantavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980486 Puumala hantavirus|Puumala virus PV|nephropathia epidemica virus|Puumala virus|Puumalavirus UBERON:0005992 pulmonary valve cusp biolink:AnatomicalEntity mondo The three fibrous triangular components and associated flap of the pulmonary valve http://purl.obolibrary.org/obo/UBERON_0005992 pulmonary valvular cusp|pulmonary semilunar valvule|semilunar cusp of pulmonary valve|cusp of pulmonary valve|semilunar valvule of pulmonary valve UBERON:0005991 aortic valve anulus biolink:AnatomicalEntity mondo The fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps http://purl.obolibrary.org/obo/UBERON_0005991 aortic valvar anulus|anulus of aortic valve|fibrous ring of aortic valve|aortic anulus UBERON:0003330 submucosa of rectum biolink:AnatomicalEntity mondo The submucous layer of the wall of the rectum. http://purl.obolibrary.org/obo/UBERON_0003330 rectal submucosa|rectum submucosa|tela submucosa recti UBERON:0005990 aortic valve cusp biolink:AnatomicalEntity mondo The three fibrous triangular components and associated flap of the aortic valve http://purl.obolibrary.org/obo/UBERON_0005990 semilunar valvule of aortic valve|cusp of aortic valve|aortic valvular cusp|aortic semilunar valvule UBERON:0003337 serosa of jejunum biolink:AnatomicalEntity mondo A serous membrane that is part of a jejunum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003337 jejunal serosa|jejunum serous membrane|serous membrane of jejunum|jejunum serosa|visceral peritoneum of jejunum HGNC:1742 LRBA biolink:OntologyClass mondo http://identifiers.org/hgnc/1742 UBERON:0003338 ganglion of peripheral nervous system biolink:AnatomicalEntity mondo A spatially aggregated collection of nerve cell bodies in the PNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections. (CUMBO). http://purl.obolibrary.org/obo/UBERON_0003338 peripheral nervous system ganglion UBERON:0005998 tricuspid valve cusp biolink:AnatomicalEntity mondo The three fibrous triangular components and associated flaps of the tricuspid valve http://purl.obolibrary.org/obo/UBERON_0005998 septal leaflet of right-sided tricuspid valve|cuspis septalis valvae atrioventricularis dextrae|septal cusp of right atrioventricular valve|septal tricuspid leaflet|septal cusp of tricuspid valve|septal leaflet of tricuspid valve|cuspis septalis (valva tricuspidalis) UBERON:0003335 serosa of colon biolink:AnatomicalEntity mondo A serous membrane that is part of a colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003335 serosa of large bowel|colon serous membrane|colonic serosa|large bowel serous membrane|large bowel serosa|serous membrane of colon|colon serosa|serous membrane of large bowel|visceral peritoneum of colon UBERON:0003336 serosa of duodenum biolink:AnatomicalEntity mondo A serous membrane that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003336 visceral peritoneum of duodenum|duodenum serosa|serous membrane of duodenum|duodenal serosa|doudenal serosa|duodenum serous membrane UBERON:0005997 tricuspid valve anulus biolink:AnatomicalEntity mondo The fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp) http://purl.obolibrary.org/obo/UBERON_0005997 fibrous ring of tricuspid valve|tricuspid valvar anulus|tricuspid anulus|anulus of tricuspid valve UBERON:0005996 mitral valve cusp biolink:AnatomicalEntity mondo The two fibrous components and associated flaps of the mitral valve http://purl.obolibrary.org/obo/UBERON_0005996 CHEBI:2571 aliphatic alcohol biolink:ChemicalSubstance mondo An alcohol derived from an aliphatic compound. http://purl.obolibrary.org/obo/CHEBI_2571 an aliphatic alcohol|Aliphatic alcohol|aliphatic alcohols UBERON:0003333 submucosa of jejunum biolink:AnatomicalEntity mondo A submucosa that is part of a jejunum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003333 jejunal submucosa|jejunum submucosa UBERON:0005995 mitral valve anulus biolink:AnatomicalEntity mondo The fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps http://purl.obolibrary.org/obo/UBERON_0005995 fibrous ring of mitral valve|mitral valvar anulus|anulus of mitral valve|mitral anulus|mitral annulus UBERON:0003334 serosa of rectum biolink:AnatomicalEntity mondo A serous membrane that is part of a rectum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003334 rectum serous membrane|rectum serosa|visceral peritoneum of rectum|rectal serosa|serous membrane of rectum UBERON:0005994 chorda tendineae biolink:AnatomicalEntity mondo The tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria http://purl.obolibrary.org/obo/UBERON_0005994 chordae tendineae cordis|chordae tendinea UBERON:0003331 submucosa of colon biolink:AnatomicalEntity mondo A submucosa that is part of a colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003331 colon submucosa|submucosa of large bowel|large bowel submucosa|colonic submucosa UBERON:0003332 submucosa of duodenum biolink:AnatomicalEntity mondo A submucosa that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003332 duodenum submucosa|doudenal submucosa|duodenal submucosa UBERON:0005993 pulmonary valve anulus biolink:AnatomicalEntity mondo The fibrous ring of the pulmonary valve that attaches the cusps of pulmonary valve to the wall of right ventricle, and which consists of portions of the fibrous scallops of the anterior, right posterior and left posterior cusps http://purl.obolibrary.org/obo/UBERON_0005993 fibrous ring of pulmonary valve|pulmonary anulus|pulmonary valvar anulus|anulus of pulmonary valve MONDO:0006705 Bacteroidaceae infectious disease biolink:Disease mondo MESH:D016866|EFO:1000872|UMLS:C0085392 Infections with bacteria of the family BACTEROIDACEAE. MESH:D016866|UMLS:C0085392 http://purl.obolibrary.org/obo/MONDO_0006705 Bacteroidaceae caused disease or disorder|infection, Bacteroidaceae|Bacteroidaceae disease or disorder|infections, Bacteroidaceae|Bacteroidaceae infection MONDO:0006706 Bifidobacteriales infectious disease biolink:Disease mondo MESH:D039941|UMLS:C1136339|EFO:1000873 Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae. UMLS:C1136339|MESH:D039941 http://purl.obolibrary.org/obo/MONDO_0006706 infection, Bifidobacteriales|Bifidobacteriales infection|Bifidobacteriales disease or disorder|Bifidobacteriales caused disease or disorder|infections, Bifidobacteriales HGNC:1748 CDH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1748 MONDO:0006703 obsolete chronic interstitial cystitis biolink:Disease mondo Chronic form of interstitial cystitis. http://purl.obolibrary.org/obo/MONDO_0006703 interstitial cystitis, chronic MONDO:0006704 CNS demyelinating autoimmune disease biolink:Disease mondo MESH:D020278|EFO:1000870 Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens. MESH:D020278 http://purl.obolibrary.org/obo/MONDO_0006704 MONDO:0006701 chromophobe adenoma biolink:Disease mondo MESH:D000238|ICDO:8270/0|UMLS:C0001432|EFO:1000867|DOID:3828|NCIT:C2857 An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes. DOID:3828|UMLS:C0001432|MESH:D000238|NCIT:C2857 http://purl.obolibrary.org/obo/MONDO_0006701 chromophobe adenoma of the pituitary gland|pituitary gland chromophobe adenoma|pituitary chromophobe adenoma|chromophobe adenoma of pituitary gland UBERON:0003319 mesenchyme of carpal region biolink:AnatomicalEntity mondo Mesenchyme of the carpal region that contributes to the carpal skeleton. http://purl.obolibrary.org/obo/UBERON_0003319 mesenchyme of wrist|carpus mesenchyme|carpal region mesenchyme|wrist mesenchyme HGNC:28844 FBXO38 biolink:OntologyClass mondo http://identifiers.org/hgnc/28844 MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy biolink:Disease mondo ICD10:G61.81|DOID:5213|MedDRA:10057645|EFO:1000868|MESH:D020277|ICD9:357.81|SCTID:128209004|ICD9:357.89 A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse. MESH:D020277|DOID:5213|SNOMEDCT:128209004 http://purl.obolibrary.org/obo/MONDO_0006702 CIDP|chronic relapsing polyneuropathy HGNC:28845 MED25 biolink:OntologyClass mondo http://identifiers.org/hgnc/28845 HGNC:1744 CDC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/1744 MONDO:0006700 choroid cancer biolink:Disease mondo DOID:12759|NCIT:C3566|SCTID:363466008|EFO:1000866|ICD10:C69.3|ICD9:190.6|MESH:D002830|MedDRA:10057405 A malignant neoplasm involving the optic choroid. DOID:12759|NCIT:C3566|MESH:D002830|SNOMEDCT:363466008 http://purl.obolibrary.org/obo/MONDO_0006700 malignant choroid neoplasm|choroidal tumor|malignant neoplasm of the choroid|malignant neoplasm of choroid|malignant neoplasm of optic choroid|malignant choroid tumor|neoplasm of choroid|choroid neoplasm|optic choroid cancer|malignant tumor of the choroid|malignant optic choroid neoplasm|malignant tumor of choroid|cancer of optic choroid UBERON:0003318 mesenchyme of elbow biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing elbow [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003318 mesenchyme of cubital region|cubital region mesenchyme|elbow mesenchyme UBERON:0005979 crista terminalis biolink:AnatomicalEntity mondo The vertical crest of the interior wall of the right atrium that lies to the right of the sinus of the vena cava and separates this from the remainder of the right atrium http://purl.obolibrary.org/obo/UBERON_0005979 crista terminalis cordis|crista terminalis atrii dextri|crista terminalis of right atrium NCBITaxon:1980491 Sin Nombre orthohantavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980491 Sin Nombre virus|Sin Nombre hantavirus NCBITaxon:1980490 Seoul orthohantavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980490 Seoul hantavirus|epidemic hemorrhagic fever virus|Seoul virus HGNC:14203 JPH3 biolink:OntologyClass mondo http://identifiers.org/hgnc/14203 UBERON:0003326 mesenchyme of mammary gland biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing mammary gland. http://purl.obolibrary.org/obo/UBERON_0003326 mesenchyme of lobe of breast|lobe of breast mesenchyme|lactiferous gland mesenchyme|mesenchyme of lobe of mammary gland|mammary mesenchyme|mammary gland mesenchyme|lobe of mammary gland mesenchyme|mesenchyme of lactiferous gland UBERON:0005989 atrioventricular septum biolink:AnatomicalEntity mondo The wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve http://purl.obolibrary.org/obo/UBERON_0005989 membranous atrioventricular septum UBERON:0003327 mesenchyme of forearm biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing lower arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003327 UBERON:0005988 atrium myocardial trabecula biolink:AnatomicalEntity mondo The supporting bundles of muscular fibers lining the walls of the atrial myocardium http://purl.obolibrary.org/obo/UBERON_0005988 atrium myocardial trabeculae|trabecula of atrium|atrial trabecula|trabecular layer of atrium|trabecular layer of the atrium HGNC:1754 CDH15 biolink:OntologyClass mondo http://identifiers.org/hgnc/1754 UBERON:0003324 mesenchyme of lower jaw biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing lower jaw [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003324 lower jaw mesenchyme|ventral mandibular arch mesenchyme|mesenchyme of ventral mandibular arch HGNC:14201 JPH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14201 UBERON:0003325 mesenchyme of pinna biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing pinna [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003325 auricle of ear mesenchyme|mesenchyme of auricula (auris externa)|mesenchyme of auricle of external ear|auricle mesenchyme|auricula mesenchyme|mesenchyme of pinna of ear|pinna of ear mesenchyme|mesenchyme of auricula|mesenchyme of auricle|pinna mesenchyme|auricula (auris externa) mesenchyme|auricle of external ear mesenchyme|mesenchyme of auricle of ear HGNC:14202 JPH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14202 UBERON:0005985 coronary vessel biolink:AnatomicalEntity mondo Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation http://purl.obolibrary.org/obo/UBERON_0005985 UBERON:0003322 mesenchyme of shoulder biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing shoulder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003322 shoulder mesenchyme OIO:hasNarrowSynonym has_narrow_synonym biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym UBERON:0003323 mesenchyme of upper jaw biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing upper jaw [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003323 palatoquadrate arch mesenchyme|upper jaw mesenchyme|mesenchyme of palatoquadrate arch UBERON:0005984 subendocardium layer biolink:AnatomicalEntity mondo The layer of loose fibrous tissue located between the endocardium and myocardium which contains the nerves and the impulse-conducting system (Purkinje fibers) of the heart http://purl.obolibrary.org/obo/UBERON_0005984 UBERON:0003320 mesenchyme of hip biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing hip [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003320 mesenchyme of regio coxae|hip mesenchyme|mesenchyme of hip region|hip region mesenchyme|regio coxae mesenchyme UBERON:0005983 heart layer biolink:AnatomicalEntity mondo The laminar structure of the heart http://purl.obolibrary.org/obo/UBERON_0005983 UBERON:0003321 mesenchyme of knee biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing knee [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003321 knee mesenchyme HGNC:1759 CDH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1759 NCBITaxon:9526 Catarrhini organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9526 FOODON:03412846 obsolete: bacteria biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03412846 NCBITaxon:1980467 Dobrava-Belgrade orthohantavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980467 Dobrava-Belgrade hantavirus|Dobrava virus|Dobravavirus|Dobrava-Belgrade virus CHEBI:36962 organochalcogen compound biolink:ChemicalSubstance mondo An organochalcogen compound is a compound containing at least one carbon-chalcogen bond. http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compounds|organochalcogen compound UBERON:0005970 brain commissure biolink:AnatomicalEntity mondo any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain http://purl.obolibrary.org/obo/UBERON_0005970 UBERON:1000011 labial commissure biolink:AnatomicalEntity mondo Anatomical structure consisting of either corner of the mouth. http://purl.obolibrary.org/obo/UBERON_1000011 corner of mouth|commissural lip|commissura labiorum oris CHEBI:36963 organooxygen compound biolink:ChemicalSubstance mondo An organochalcogen compound containing at least one carbon-oxygen bond. http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compounds|organooxygen compound CHEBI:36961 chalcocarbonic acid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36961 chalcocarbonic acid|chalcocarbonic acids|chalcocarbonic acids UBERON:0003315 mesenchyme of ovary biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing ovary [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003315 mesenchyme of female reproductive system gonad|mesenchyme of female reproductive system gonada|gonada of female reproductive system mesenchyme|ovary mesenchyme|gonad of female reproductive system mesenchyme|mesenchyme of gonada of female reproductive system|mesenchyme of gonad of female reproductive system|female reproductive system gonad mesenchyme|female reproductive system gonada mesenchyme UBERON:0003316 mesenchyme of yolk sac biolink:AnatomicalEntity mondo The portion of the yolk sac that is derived from mesoderm and consists of mesenchyme. http://purl.obolibrary.org/obo/UBERON_0003316 yolk sac mesenchyme HGNC:1762 CDH3 biolink:OntologyClass mondo http://identifiers.org/hgnc/1762 UBERON:0003314 eye mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing camera-type eye. http://purl.obolibrary.org/obo/UBERON_0003314 mesenchyme of eye UBERON:0003312 mesenchyme of testis biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing testis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003312 testis mesenchyme UBERON:0005971 amniotic fold biolink:AnatomicalEntity mondo A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. http://purl.obolibrary.org/obo/UBERON_0005971 amnionic fold CHEBI:24995 lactam biolink:ChemicalSubstance mondo Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. http://purl.obolibrary.org/obo/CHEBI_24995 lactams|Laktame|Laktam|lactam|lactams NCBITaxon:55194 Malassezia furfur organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_55194 Saccharomyces ovalis|Pityrosporum ovale|Pityrosporum orbiculare|Pityriasis (Tinea) versicolor infection agent CHEBI:22333 alkylating agent biolink:ChemicalSubstance mondo Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases. http://purl.obolibrary.org/obo/CHEBI_22333 NCBITaxon:55193 Malassezia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_55193 NCBITaxon:1980476 Laguna Negra orthohantavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980476 Laguna Negra virus|Laguna Negra hantavirus UBERON:1000021 skin of face biolink:AnatomicalEntity mondo A zone of skin that is part of the face. http://purl.obolibrary.org/obo/UBERON_1000021 face skin|facial skin UBERON:1000023 spleen pulp biolink:AnatomicalEntity mondo The parenchyma of the spleen, consisting of lymphocytes and macrophages. It lies between the splenic trabecula. Red pulp is the part suffused with blood and white pulp consists of areas of lymphatic tissue where there are sleeves of lymphocytes and macrophages. http://purl.obolibrary.org/obo/UBERON_1000023 pulp of spleen|Malpighian corpuscles|splenic pulp UBERON:1000024 parenchyma of spleen biolink:AnatomicalEntity mondo A parenchyma that is part of a spleen. http://purl.obolibrary.org/obo/UBERON_1000024 splenic parenchyma UBERON:0003304 mesoderm blood island biolink:AnatomicalEntity mondo A blood island that is part of a mesoderm. http://purl.obolibrary.org/obo/UBERON_0003304 mesenchyme blood island|mesoderm blood islands UBERON:0005966 outflow part of left atrium biolink:AnatomicalEntity mondo An outflow tract of atrium that is part of a left atrium. http://purl.obolibrary.org/obo/UBERON_0005966 main part of left atrium|outflow tract of left atrium UBERON:0003302 roof plate of metencephalon biolink:AnatomicalEntity mondo A roof plate that is part of a metencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003302 epencephalon-2 roofplate|roofplate medulla metencephalon|roofplate of metencephalon|epencephalon-2 roof plate|metencephalon roofplate|roofplate of epencephalon-2|roof plate metencephalon|metencephalon roof plate|roof plate of epencephalon-2 UBERON:0005965 outflow part of right atrium biolink:AnatomicalEntity mondo Outflow part of atrium which consists of wall and cavity of the outflow part of right atrium and the tricuspid valve.[FMA] http://purl.obolibrary.org/obo/UBERON_0005965 main part of right atrium|outflow tract of right atrium HGNC:1773 CDK4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1773 UBERON:0003303 roof plate of medulla oblongata biolink:AnatomicalEntity mondo A roof plate that is part of a medulla oblongata [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003303 roofplate of medulla oblonmgata|roofplate of medulla oblongata|roof plate of bulb|bulb roofplate|medulla oblongata roofplate|roofplate of metepencephalon|roof plate of medulla oblonmgata|metepencephalon roof plate|metepencephalon roofplate|medulla oblonmgata roof plate|medulla oblonmgata roofplate|roofplate medulla oblongata|roofplate of bulb|medulla oblongata roof plate|roof plate of metepencephalon|bulb roof plate|roof plate medulla oblongata HGNC:16841 LITAF biolink:OntologyClass mondo http://identifiers.org/hgnc/16841 HGNC:1774 CDK5 biolink:OntologyClass mondo http://identifiers.org/hgnc/1774 UBERON:0003300 roof plate of telencephalon biolink:AnatomicalEntity mondo A roof plate that is part of a telencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003300 roofplate medulla telencephalon|roofplate of telencephalon|telencephalon roofplate|roof plate telencephalon|telencephalon roof plate UBERON:0003301 roof plate of diencephalon biolink:AnatomicalEntity mondo A roof plate that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003301 roof plate of interbrain|roofplate of diencephalon|interbrain roofplate|mature diencephalon roofplate|between brain roof plate|roof plate of between brain|roof plate diencephalon|diencephalon roof plate|roof plate of mature diencephalon|roofplate of interbrain|diencephalon roofplate|roofplate medulla diencephalon|roofplate of between brain|roof plate diencephalic region|interbrain roof plate|between brain roofplate|mature diencephalon roof plate|roofplate of mature diencephalon CHEBI:36970 vitamin B6 phosphate biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36970 vitamin B6 phosphates|vitamin B-6 phosphates MONDO:0006738 eccrine acrospiroma biolink:Disease mondo MESH:D018250|DOID:5442|EFO:1000912|ONCOTREE:PORO|GARD:0005726|NCIT:C27273|SCTID:400099008 A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors. SNOMEDCT:400099008|DOID:5442|NCIT:C27273|MESH:D018250 http://purl.obolibrary.org/obo/MONDO_0006738 solid-cystic hidradenoma|clear-cell Hidradrenomas|Hidradenomas|acrospiromas, eccrine|hidradenoma|solid-cystic Hidradenomas|clear-cell Hidradrenoma|clear cell Hidradrenoma|acrospiromas|nodular Hidradrenomas|eccrine acrospiroma|eccrine hidradenoma of skin|eccrine Acrospiromas|Hidradenomas, solid-cystic|poroma|acrospiroma, eccrine|Hidradrenoma, clear-cell|poroma/acrospiroma|hidradenoma, solid-cystic|Hidradrenomas, clear-cell|poroma (acrospiroma)|nodular Hidradrenoma|eccrine poroma|solid cystic hidradenoma|Hidradrenomas, nodular|Hidradrenoma, nodular|eccrine hidradenoma gard_rare MONDO:0006739 Ehrlich tumor carcinoma biolink:Disease mondo MESH:D002286|EFO:1000913|UMLS:C0007125|DOID:5050 A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms. MESH:D002286|DOID:5050|UMLS:C0007125 http://purl.obolibrary.org/obo/MONDO_0006739 Ehrlich's tumor MONDO:0006736 dysplasia of cervix biolink:Disease mondo ICD9:622.11|EFO:1000910|COHD:192367|UMLS:C0007868|MESH:D002578|ICD9:622.10|ICD10:N87|MedDRA:10013957|ICD9:622.1|SCTID:73391008 Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane. MESH:D002578|SNOMEDCT:73391008|UMLS:C0007868 http://purl.obolibrary.org/obo/MONDO_0006736 MONDO:0006737 dystocia biolink:Disease mondo EFO:1000911|MESH:D004420 Slow or difficult obstetric labor or childbirth. MESH:D004420 http://purl.obolibrary.org/obo/MONDO_0006737 GO:0070470 plasma membrane respirasome biolink:OntologyClass mondo A respiratory chain located in the plasma membrane of a cell; made up of the protein complexes that form the electron transport system (the respiratory chain), associated with the plasma membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. http://purl.obolibrary.org/obo/GO_0070470 plasma membrane respiratory chain|plasma membrane electron transport chain MONDO:0006734 benign duodenal neoplasm biolink:Disease mondo NCIT:C4775|MedDRA:10004251|EFO:1000907|DOID:1737|SCTID:92080005 A non-metastasizing neoplasm arising from the wall of the duodenum. DOID:1737|NCIT:C4775|SNOMEDCT:92080005 http://purl.obolibrary.org/obo/MONDO_0006734 benign neoplasm of the duodenum|neoplasm of duodenum|neoplasm of the duodenum|duodenum benign neoplasm|benign duodenal tumor|benign tumor of duodenum|duodenal benign neoplasm|benign tumor of the duodenum|benign neoplasm of duodenum|benign duodenal neoplasm MONDO:0006735 duodenogastric reflux biolink:Disease mondo MedDRA:10060865|EFO:1000909|MESH:D004383|UMLS:C0013299|DOID:4071 Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach. MESH:D004383|UMLS:C0013299|DOID:4071 http://purl.obolibrary.org/obo/MONDO_0006735 duodenogastric reflux (finding) MONDO:0006732 drug-induced dyskinesia biolink:Disease mondo ICD9:333.99|SCTID:102448004|MedDRA:10013916|MESH:D004409|EFO:1000904|COHD:373185|GARD:0008236 Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199) MESH:D004409|SNOMEDCT:102448004 http://purl.obolibrary.org/obo/MONDO_0006732 HGNC:1777 CDK6 biolink:OntologyClass mondo http://identifiers.org/hgnc/1777 MONDO:0006733 dry eye syndrome biolink:Disease mondo DOID:10140|MedDRA:100233350|MedDRA:10013777|SCTID:302896008|UMLS:C0022575|MESH:D007638|COHD:378427|NCIT:C34553|EFO:1001001|MESH:D015352|EFO:1000906|DOID:12895|SCTID:46152009|ICD9:375.15|ICD10:H04.12|UMLS:C0013238 A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye. DOID:10140|SNOMEDCT:302896008|MESH:D015352|UMLS:C0013238|NCIT:C34553|MESH:D007638|SNOMEDCT:46152009|DOID:12895|UMLS:C0022575 http://purl.obolibrary.org/obo/MONDO_0006733 dry eye|KCS|eye(s), dry|tear film insufficiency|sicca, keratoconjunctivitis|keratoconjunctivitis sicca|dry eye syndrome|dry eye(s) MONDO:0006730 drug psychosis biolink:Disease mondo DOID:1742|ICD9:292.1|MedDRA:10045855|SCTID:191483003|MESH:D011605|EFO:1000902 Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance. MESH:D011605|SNOMEDCT:191483003|DOID:1742 http://purl.obolibrary.org/obo/MONDO_0006730 drug-induced psychosis|drug-induced psychotic disorder MONDO:0006731 drug-induced akathisia biolink:Disease mondo MESH:D017109|MedDRA:10001540|ICD9:333.99|SCTID:230333002|EFO:1000903|ICD10:G25.71 An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications. NCIT:C78163|SNOMEDCT:230333002|MESH:D017109 http://purl.obolibrary.org/obo/MONDO_0006731 NCBITaxon:1980442 Orthohantavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980442 Hantavirus HGNC:16808 UBR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16808 MONDO:0018719 obsolete rare capillary malformation with associated anomalies biolink:Disease mondo Orphanet:458830|UMLS:CN242066 ORPHA:458830|UMLS:CN242066 http://purl.obolibrary.org/obo/MONDO_0018719 UBERON:0003373 ectoderm of footplate biolink:AnatomicalEntity mondo An ectoderm that is part of a footplate. http://purl.obolibrary.org/obo/UBERON_0003373 MONDO:0018727 immunodeficiency due to a complement regulatory deficiency biolink:Disease mondo Orphanet:459348 ORPHA:459348 http://purl.obolibrary.org/obo/MONDO_0018727 ordo_group_of_disorders MONDO:0018726 obsolete immunodeficiency due to a complement cascade component deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018726 ECTO:9001699 fuel exposure biolink:OntologyClass mondo An exposure to fuel. http://purl.obolibrary.org/obo/ECTO_9001699 exposure to fuel UBERON:0003374 chorionic ectoderm biolink:AnatomicalEntity mondo A extraembryonic structure that develops_from a ectoderm and is part of a chorion. http://purl.obolibrary.org/obo/UBERON_0003374 chorionic epithelium|chorion ectoderm|chorion epithelium UBERON:0003371 pelvic appendage bud ectoderm biolink:AnatomicalEntity mondo An unilaminar epithelium that surrounds a pelvic appendage bud. http://purl.obolibrary.org/obo/UBERON_0003371 hindlimb bud ectoderm|hindlimb ectoderm|lower limb bud ectoderm|pelvic fin bud ectoderm|hindlimb ectoderm|leg ectoderm MONDO:0018729 genetic vascular tumor biolink:Disease mondo Orphanet:459543|UMLS:CN242080 An instance of rare vascular tumor that is caused by a modification of the individual's genome. UMLS:CN242080|ORPHA:459543 http://purl.obolibrary.org/obo/MONDO_0018729 genetic rare vascular tumor|rare genetic vascular tumor ordo_group_of_disorders|obsoletion_candidate HGNC:16817 ESS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16817 MONDO:0018728 obsolete rare genetic capillary malformation biolink:Disease mondo UMLS:CN242077|Orphanet:459526 UMLS:CN242077|ORPHA:459526 http://purl.obolibrary.org/obo/MONDO_0018728 obsoletion_candidate|ordo_group_of_disorders UBERON:0003372 pectoral appendage bud ectoderm biolink:AnatomicalEntity mondo An unilaminar epithelium that surrounds a pectoral appendage bud. http://purl.obolibrary.org/obo/UBERON_0003372 wing ectoderm|forelimb ectoderm|forelimb bud ectoderm|pectoral fin bud ectoderm|upper limb bud ectoderm|arm ectoderm NCBITaxon:163158 Xenopsylla organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_163158 MONDO:0018723 rare vascular malformation of major vessels biolink:Disease mondo Orphanet:458844|UMLS:CN242093 UMLS:CN242093|ORPHA:458844 http://purl.obolibrary.org/obo/MONDO_0018723 obsoletion_candidate|ordo_group_of_disorders MONDO:0018722 primary lymphedema with associated anomalies biolink:Disease mondo Orphanet:458841 ORPHA:458841 http://purl.obolibrary.org/obo/MONDO_0018722 ordo_group_of_disorders MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome biolink:Disease mondo ICD10:Q04.0|UMLS:CN242137|Orphanet:459074 UMLS:CN242137|ORPHA:459074 http://purl.obolibrary.org/obo/MONDO_0018725 dup(7)(q36.3)|7q36.3 microduplication syndrome ordo_malformation_syndrome MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome biolink:Disease mondo Orphanet:459070|UMLS:CN242161 UMLS:CN242161|ORPHA:459070 http://purl.obolibrary.org/obo/MONDO_0018724 ordo_malformation_syndrome HGNC:16812 COQ8A biolink:OntologyClass mondo http://identifiers.org/hgnc/16812 HGNC:1786 CDKN1C biolink:OntologyClass mondo http://identifiers.org/hgnc/1786 HGNC:1787 CDKN2A biolink:OntologyClass mondo http://identifiers.org/hgnc/1787 MONDO:0018721 rare combined vascular malformation biolink:Disease mondo UMLS:CN242069|Orphanet:458837 UMLS:CN242069|ORPHA:458837 http://purl.obolibrary.org/obo/MONDO_0018721 obsoletion_candidate|ordo_group_of_disorders UBERON:0003379 cardiac muscle of right atrium biolink:AnatomicalEntity mondo A portion of cardiac muscle tissue that is part of a right atrium [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003379 cardiac muscle tissue of right atrium of heart|cardiac muscle of heart right atrium|cardiac muscle tissue of right atrium|myocardium of right atrium|textus muscularis of myocardium of right cardiac atrium|cardiac muscle of cardiac right atrium|textus muscularis of myocardium of right atrium of heart|right atrium myocardium|cardiac muscle tissue of heart right atrium|right atrium heart muscle|textus muscularis of myocardium of right atrium ECTO:9001694 antibacterial agent exposure biolink:OntologyClass mondo An exposure to antibacterial agent. http://purl.obolibrary.org/obo/ECTO_9001694 exposure to antibacterial agent MONDO:0018720 common cystic lymphatic malformation biolink:Disease mondo Orphanet:458833 ORPHA:458833 http://purl.obolibrary.org/obo/MONDO_0018720 ordo_group_of_disorders HGNC:1785 CDKN1B biolink:OntologyClass mondo http://identifiers.org/hgnc/1785 NCBITaxon:163159 Xenopsylla cheopis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_163159 oriental rat flea ECTO:9001695 nutrient exposure biolink:OntologyClass mondo An exposure to nutrient. http://purl.obolibrary.org/obo/ECTO_9001695 exposure to nutrient MONDO:0006729 discrete subaortic stenosis biolink:Disease mondo EFO:1000901|UMLS:C0012628|MESH:D021922|DOID:5804 A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta. MESH:D021922|DOID:5804|UMLS:C0012628 http://purl.obolibrary.org/obo/MONDO_0006729 MONDO:0006749 mixed epithelioid and spindle cell melanoma biolink:Disease mondo NCIT:C66756|ICDO:8770/3|SCTID:254811006|MESH:D018332|EFO:1000925 A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes. SNOMEDCT:254811006|NCIT:C66756|MESH:D018332 http://purl.obolibrary.org/obo/MONDO_0006749 mixed epithelioid and spindle cell melanoma MONDO:0006747 enterotoxemia biolink:Disease mondo EFO:1000922|SCTID:370514003|MESH:D004767|ICD9:799.89|UMLS:C0014371 Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease. MESH:D004767|UMLS:C0014371|SNOMEDCT:370514003 http://purl.obolibrary.org/obo/MONDO_0006747 MONDO:0006748 epilepsia partialis continua biolink:Disease mondo ICD9:345.7|MedDRA:10015034|MESH:D017036|ICD9:345.70|COHD:374023|SCTID:241006|EFO:1000924 A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) MESH:D017036|SNOMEDCT:241006 http://purl.obolibrary.org/obo/MONDO_0006748 MONDO:0006745 endometrioid stromal sarcoma biolink:Disease mondo ICD10:C54.1|MESH:D018203|DOID:4226|NCIT:C8973|ICDO:8930/3|Orphanet:213711|SCTID:699356008|EFO:1000919|UMLS:C2239246|GARD:0006339|ONCOTREE:ESS|MedDRA:10057649|MedDRA:10048397|UMLS:C0206630 A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. UMLS:C2239246|DOID:4226|ORPHA:213711|UMLS:C0206630|SNOMEDCT:699356008|NCIT:C8973|MESH:D018203|MEDDRA:10057649 http://purl.obolibrary.org/obo/MONDO_0006745 endometrial stromal sarcomas|stromal sarcoma of the corpus uteri|undifferentiated endometrial sarcoma|endometrioid stromal sarcoma|stromal sarcoma, endometrial|endometrial stromal sarcoma|endometrial stromal sarcoma, high grade|stromal sarcoma, endometrial, malignant|sarcomas, endometrial stromal|stromal sarcomas, endometrial|ess ordo_disease|gard_rare CHEBI:22314 alkali metal atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_22314 alkali metal|Alkalimetall|metaux alcalins|alkali metals|Alkalimetalle|metales alcalinos|metal alcalino|metal alcalin MONDO:0006746 endomyocardial fibrosis biolink:Disease mondo EFO:1000921|GARD:0006340|COHD:439399|ICD9:425.0|NCIT:C34585|MedDRA:10014800|MESH:D004719|DOID:12932 A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator. MESH:D004719|NCIT:C34585|DOID:12932 http://purl.obolibrary.org/obo/MONDO_0006746 African endomyocardial fibrosis|obscure African cardiomyopathy|endomyocardial sclerosis gard_rare CHEBI:22315 alkaloid biolink:ChemicalSubstance mondo Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids. http://purl.obolibrary.org/obo/CHEBI_22315 alkaloids|Alkaloide|alcaloides|Alkaloid|alcaloide MONDO:0006743 endocrine tuberculosis biolink:Disease mondo UMLS:C0041310|MESH:D014383|EFO:1000917 Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis. MESH:D014383|UMLS:C0041310 http://purl.obolibrary.org/obo/MONDO_0006743 CHEBI:22313 alkaline earth metal atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_22313 metal alcalino-terreux|Erdalkalimetall|alkaline-earth metals|metaux alcalino-terreux|alkaline-earth metal|metales alcalinoterreos|alkaline earth metal|alkaline earth metals|metal alcalinoterreo|Erdalkalimetalle MONDO:0006744 endolymphatic hydrops biolink:Disease mondo DOID:9848|UMLS:C0206586|MedDRA:10049934|SCTID:27621000119100|MESH:D018159|EFO:1000918|ICD10:H81.0|ICD9:386.8 An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo. DOID:9848|SNOMEDCT:27621000119100|UMLS:C0206586|MESH:D018159 http://purl.obolibrary.org/obo/MONDO_0006744 labyrinthine hydrops MONDO:0006741 encephalomalacia biolink:Disease mondo UMLS:C0014068|MedDRA:10051818|SCTID:58762006|NCIT:C98920|DOID:2034|EFO:1000915|MESH:D004678 Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation. UMLS:C0014068|DOID:2034|SNOMEDCT:58762006|NCIT:C98920|MESH:D004678 http://purl.obolibrary.org/obo/MONDO_0006741 MONDO:0006742 endemic goiter biolink:Disease mondo DOID:13198|ICD10:E01.2|SCTID:56805008|ICD10:E01.0|NCIT:C35023|EFO:1000916|ICD9:240.0|MedDRA:10068848|MESH:D006043 Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption. NCIT:C35023|DOID:13198|MESH:D006043|SNOMEDCT:56805008 http://purl.obolibrary.org/obo/MONDO_0006742 iodine-deficiency-related endemic goitre|simple goitre|simple goiter MONDO:0006740 empty sella syndrome biolink:Disease mondo SCTID:237722004|MESH:D004652|DOID:3642|EFO:1000914|NCIT:C84686|UMLS:C0014008|ICD9:253.8|GARD:0006331|MedDRA:10014567 Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person. UMLS:C0014008|SNOMEDCT:237722004|DOID:3642|MESH:D004652|NCIT:C84686 http://purl.obolibrary.org/obo/MONDO_0006740 empty sella syndrome|empty sella turcica|empty sella gard_rare NCBITaxon:1980459 Bayou orthohantavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980459 Bayou virus|Bayou hantavirus MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome biolink:Disease mondo Orphanet:457260 ORPHA:457260 http://purl.obolibrary.org/obo/MONDO_0018709 ordo_disease MONDO:0018708 squamous cell carcinoma of the oral tongue biolink:Disease mondo ICD10:C02.1|ICD10:C02.0|Orphanet:457252|ICD10:C02.8|ICD10:C02.4|UMLS:CN242132|ICD10:C02.3|ICD10:C02.2 ORPHA:457252|UMLS:CN242132 http://purl.obolibrary.org/obo/MONDO_0018708 oral tongue squamous cell carcinoma|OTSCC ordo_disease NCBITaxon:1980456 Andes orthohantavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980456 Andes hantavirus|Andes virus UBERON:0003362 epithelium of endolymphatic duct biolink:AnatomicalEntity mondo An epithelium that is part of a endolymphatic duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003362 endolymphatic duct epithelial tissue|endolymphatic duct epithelium|epithelial tissue of endolymphatic duct MONDO:0018716 partially involuting congenital hemangioma biolink:Disease mondo ICD10:D18.0|Orphanet:458785 A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion ORPHA:458785 http://purl.obolibrary.org/obo/MONDO_0018716 PICH ordo_disease MONDO:0018715 congenital hemangioma biolink:Disease mondo Orphanet:458775|UMLS:C0235753|NCIT:C3841|SCTID:32361000119104 A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH). ORPHA:458775|NCIT:C3841|SNOMEDCT:32361000119104|UMLS:C0235753 http://purl.obolibrary.org/obo/MONDO_0018715 congenital angioma|congenital hemangioma ordo_group_of_disorders UBERON:0003360 epithelium of parotid gland biolink:AnatomicalEntity mondo An epithelium that is part of a parotid gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003360 epithelium of parotid gland|epithelium of parotid|epithelial tissue of parotid gland|parotid gland epithelial tissue|parotid epithelial tissue|parotid epithelium|parotid gland epithelium|parotid gland duct epithelium MONDO:0018718 vascular tumor with associated anomalies biolink:Disease mondo Orphanet:458827|UMLS:CN242155 ORPHA:458827|UMLS:CN242155 http://purl.obolibrary.org/obo/MONDO_0018718 ordo_group_of_disorders NCBITaxon:190765 Ochlerotatus organism taxon mondo GC_ID:1|PMID:15264635 http://purl.obolibrary.org/obo/NCBITaxon_190765 Ochlerotatus MONDO:0018717 mixed cystic lymphatic malformation biolink:Disease mondo Orphanet:458792|ICD10:D18.1 ORPHA:458792 http://purl.obolibrary.org/obo/MONDO_0018717 mixed cystic lymphangioma ordo_malformation_syndrome UBERON:0003361 epithelium of sublingual gland biolink:AnatomicalEntity mondo An epithelium that is part of a sublingual gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003361 epithelium of ductus sublingualis|epithelial tissue of ductus sublingualis|epithelial tissue of sublingual gland|ductus sublingualis epithelial tissue|sublingual gland duct epithelium|sublingual gland epithelium|epithelium of Rivinus'gland|sublingual duct epithelium|Rivinus'gland epithelium|epithelial tissue of Rivinus'gland|Rivinus'gland epithelial tissue|sublingual gland epithelial tissue|ductus sublingualis epithelium MONDO:0018712 composite hemangioendothelioma biolink:Disease mondo SCTID:403984006|NCIT:C45475|Orphanet:458758|ICD10:D18.0|UMLS:CN242120|UMLS:C1304513 An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia. ORPHA:458758|SNOMEDCT:403984006|UMLS:C1304513|UMLS:CN242120|NCIT:C45475 http://purl.obolibrary.org/obo/MONDO_0018712 composite hemangioendothelioma ordo_disease MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome biolink:Disease mondo Orphanet:457365|UMLS:CN242088 ORPHA:457365|UMLS:CN242088 http://purl.obolibrary.org/obo/MONDO_0018711 ordo_malformation_syndrome MONDO:0018714 primary intralymphatic angioendothelioma biolink:Disease mondo ICDO:9135/1|NCIT:C7526|ICD10:D18.0|Orphanet:458768|UMLS:CN242194 An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation. ORPHA:458768|UMLS:CN242194|NCIT:C7526 http://purl.obolibrary.org/obo/MONDO_0018714 papillary intralymphatic angioendothelioma|papillary Endovascular angioendothelioma|pila|Dabska tumor|malignant endothelial papillary angioendothelioma ordo_disease MONDO:0018713 retiform hemangioendothelioma biolink:Disease mondo Orphanet:458763|SCTID:403982005|NCIT:C27511|UMLS:CN242097|ICD10:D18.0|UMLS:C1304512 An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels. ORPHA:458763|UMLS:C1304512|SNOMEDCT:403982005|UMLS:CN242097|NCIT:C27511 http://purl.obolibrary.org/obo/MONDO_0018713 retiform hemangioendothelioma|hobnail hemangioendothelioma ordo_disease GO:0070469 respirasome biolink:OntologyClass mondo The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. http://purl.obolibrary.org/obo/GO_0070469 membrane electron transport chain|respiratory chain MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome biolink:Disease mondo Orphanet:457359 ORPHA:457359 http://purl.obolibrary.org/obo/MONDO_0018710 ordo_malformation_syndrome UBERON:0003368 epithelium of hard palate biolink:AnatomicalEntity mondo An epithelium that is part of a hard palate [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003368 hard palate epithelial tissue|hard palate epithelium|epithelial tissue of hard palate UBERON:0003366 epithelium of uterine horn biolink:AnatomicalEntity mondo An epithelium that is part of a uterine horn [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003366 epithelial tissue of uterine horn|uterine horn epithelium|uterine horn epithelial tissue UBERON:0003364 epithelium of right lung biolink:AnatomicalEntity mondo An epithelium that is part of a right lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003364 right lung epithelium|right lung epithelial tissue|epithelial tissue of right lung UBERON:0003365 epithelium of left lung biolink:AnatomicalEntity mondo An epithelium that is part of a left lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003365 left lung epithelium|epithelial tissue of left lung|left lung epithelial tissue MONDO:0006716 coronary thrombosis biolink:Disease mondo ICD10:I22|ICD10:I21|SCTID:398274000|DOID:11847|MedDRA:10011108|UMLS:C0010072|EFO:1000883|MESH:D003328 Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction. UMLS:C0010072|DOID:11847|MESH:D003328|SNOMEDCT:398274000 http://purl.obolibrary.org/obo/MONDO_0006716 coronary vessel thrombotic disease|coronary artery thrombosis|thrombotic disease of coronary vessel MONDO:0006717 cutaneous fibrous histiocytoma biolink:Disease mondo DOID:4418|ONCOTREE:DF|UMLS:C0346049|ICDO:8832/0|NCIT:C6801|EFO:1000885|UMLS:C0002991|SCTID:448015002 A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern. SNOMEDCT:448015002|NCIT:C6801|UMLS:C0346049|UMLS:C0002991|DOID:4418 http://purl.obolibrary.org/obo/MONDO_0006717 fibrous histiocytoma of the skin|benign fibrous cutaneous histiocytoma|fibrous xanthoma of skin|dermatofibroma|DF|benign fibrous histiocytoma of skin|fibrohistiocytic tumor|benign fibrous histiocytoma of the skin|dermatofibroma NOS|dermatofibroma, no ICD-O subtype (morphologic abnormality)|sclerosing angioma of skin|sclerosing angioma (morphologic abnormality)|pleomorphic fibroma|cutaneous fibrous histiocytoma|dermatofibroma, no ICD-O subtype|fibrohistiocytic neoplasm|benign cutaneous fibrous histiocytoma|benign skin fibrous histiocytoma|sclerosing angioma|fibrous histiocytoma of skin MONDO:0006714 coronary aneurysm biolink:Disease mondo ICD10:I25.4|COHD:316427|GARD:0006200|HP:0030882|MedDRA:10002348|ICD10:I25.41|SCTID:50570003|EFO:1000881|DOID:3362|ICD9:414.11|UMLS:C0010051|MESH:D003323 Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease. UMLS:C0010051|SNOMEDCT:50570003|MESH:D003323|DOID:3362 http://purl.obolibrary.org/obo/MONDO_0006714 aneurysm of coronary vessels|aneurysmal lesion of coronary artery|coronary artery aneurysm|arteriovenous aneurysm of coronary vessels MONDO:0006715 coronary stenosis biolink:Disease mondo UMLS:C0242231|SCTID:233970002|DOID:4248|EFO:1000882|MESH:D023921|MedDRA:10011089 Narrowing of the coronary artery lumen diameter. MESH:D023921|SNOMEDCT:233970002|UMLS:C0242231|NCIT:C80427|DOID:4248 http://purl.obolibrary.org/obo/MONDO_0006715 coronary artery stenosis MONDO:0006712 corneal edema biolink:Disease mondo MedDRA:10011007|EFO:1000879|ICD9:371.20|ICD10:H18.20|COHD:380102|MESH:D015715|DOID:11030|ICD9:371.2|UMLS:C0010037|SCTID:27194006 Hazy, swollen cornea. DOID:11030|SNOMEDCT:27194006|MESH:D015715|NCIT:C50508|UMLS:C0010037 http://purl.obolibrary.org/obo/MONDO_0006712 corneal oedema MONDO:0006713 corneal neovascularization biolink:Disease mondo ICD10:H16.4|UMLS:C0085109|SCTID:19161004|ICD10:H16.40|DOID:11382|ICD9:370.60|MESH:D016510|EFO:1000880|ICD9:370.6|COHD:375267|MedDRA:10011031 New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation. DOID:11382|MESH:D016510|UMLS:C0085109|SNOMEDCT:19161004 http://purl.obolibrary.org/obo/MONDO_0006713 MONDO:0006710 complex partial epilepsy biolink:Disease mondo COHD:4236312|SCTID:407675009|EFO:1000877|UMLS:C0085417|ICD9:345.40|DOID:12382|MESH:D017029 A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8) MESH:D017029|UMLS:C0085417|DOID:12382|SNOMEDCT:407675009 http://purl.obolibrary.org/obo/MONDO_0006710 Complex partial epileptic seizure|epilepsy, psychomotor|psychomotor epilepsy MONDO:0006711 constrictive pericarditis (disease) biolink:Disease mondo COHD:312334|UMLS:C0031048|MedDRA:10010783|EFO:1000878|HP:0002563|SCTID:85598007|DOID:11481|NCIT:C78246|ICD9:423.2|MESH:D010494 A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function. MESH:D010494|SNOMEDCT:85598007|DOID:11481|NCIT:C78246|UMLS:C0031048 http://purl.obolibrary.org/obo/MONDO_0006711 constrictive pericarditis UBERON:0003351 pharyngeal epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003351 pharynx epithelial tissue|pharynx epithelium|epithelium of pharynx|epithelial tissue of pharynx MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome biolink:Disease mondo UMLS:CN242083|Orphanet:457205 ORPHA:457205|UMLS:CN242083 http://purl.obolibrary.org/obo/MONDO_0018705 ANOAC|axonal neuropathy-optic atrophy-cognitive deficit syndrome ordo_disease UBERON:0003352 epithelium of midgut biolink:AnatomicalEntity mondo An epithelium that is part of a midgut. http://purl.obolibrary.org/obo/UBERON_0003352 epithelial tissue of midgut|midgut epithelium|midgut epithelial tissue MONDO:0018704 obsolete actinomycosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018704 MONDO:0018707 obsolete clear cell sarcoma of kidney biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018707 MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect biolink:Disease mondo Orphanet:457223|ICD10:G31.8|UMLS:CN242144 ORPHA:457223|UMLS:CN242144 http://purl.obolibrary.org/obo/MONDO_0018706 syndromic sensorineural deafness due to COXPD|syndromic sensorineural hearing loss due to COXPD ordo_disease UBERON:0003350 epithelium of mucosa biolink:AnatomicalEntity mondo A layer of epithelial cells on the surface of the mucosa. http://purl.obolibrary.org/obo/UBERON_0003350 lamina epithelialis mucosae|lamina epithelialis mucosa MONDO:0018701 congenital nemaline myopathy biolink:Disease mondo Orphanet:457074 ORPHA:457074 http://purl.obolibrary.org/obo/MONDO_0018701 ordo_group_of_disorders MONDO:0018700 pseudohypoparathyroidism without Albright hereditary osteodystrophy biolink:Disease mondo Orphanet:457062 ORPHA:457062 http://purl.obolibrary.org/obo/MONDO_0018700 ordo_group_of_disorders UBERON:0015329 respiratory system basement membrane biolink:AnatomicalEntity mondo A basement membrane of epithelium that is part of a respiratory system. http://purl.obolibrary.org/obo/UBERON_0015329 MONDO:0018703 isolated splenogonadal fusion biolink:Disease mondo UMLS:CN242095|ICD10:Q89.0|Orphanet:457083 ORPHA:457083|UMLS:CN242095 http://purl.obolibrary.org/obo/MONDO_0018703 SGF ordo_morphological_anomaly MONDO:0018702 TAFRO syndrome biolink:Disease mondo Orphanet:457077|ICD10:M35.8|UMLS:CN237773 A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly ORPHA:457077|UMLS:CN237773 http://purl.obolibrary.org/obo/MONDO_0018702 thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome|Castleman-Kojima disease ordo_disease UBERON:0003359 epithelium of submandibular gland biolink:AnatomicalEntity mondo An epithelium that is part of a submandibular gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003359 submandibular gland epithelial tissue|submandibular gland duct epithelium|submaxillary gland epithelium|submandibular duct epithelium|submandibular gland epithelium|epithelial tissue of submandibular gland UBERON:0003357 epithelium of tongue biolink:AnatomicalEntity mondo An epithelium that is part of a tongue [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003357 epithelial tissue of tongue|tongue epithelium|tongue epithelial tissue|lingual epithelium UBERON:0003358 epithelium of soft palate biolink:AnatomicalEntity mondo An epithelium that is part of a soft palate [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003358 soft palate epithelial tissue|soft palate epithelium|epithelial tissue of soft palate MONDO:0006709 common bile duct neoplasm biolink:Disease mondo UMLS:C0009442|MESH:D003138|SCTID:126857009|EFO:1000876|DOID:4608 Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi. UMLS:C0009442|SNOMEDCT:126857009|DOID:4608|MESH:D003138 http://purl.obolibrary.org/obo/MONDO_0006709 neoplasm of common bile duct|common bile duct tumor|tumor of common bile duct|common bile duct neoplasm (disease) UBERON:0003353 epithelium of hindgut biolink:AnatomicalEntity mondo An epithelium that is part of a hindgut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003353 epithelial tissue of hindgut|hindgut epithelial tissue|hindgut epithelium MONDO:0006707 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006707 UBERON:0003354 epithelium of rectum biolink:AnatomicalEntity mondo An epithelium that is part of a rectum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003354 rectum epithelial tissue|epithelial tissue of rectum|rectum epithelium|rectal epithelium MONDO:0006708 Desulfovibrionaceae infectious disease biolink:Disease mondo EFO:1000875|MESH:D045824 Infections with bacteria of the family Desulfovibrionaceae. MESH:D045824 http://purl.obolibrary.org/obo/MONDO_0006708 Bilophila infections|infection, Desulfovibrio|Desulfovibrionaceae caused disease or disorder|infections, Desulfovibrionaceae|Desulfovibrionaceae disease or disorder|infection, Lawsonia|Bilophila infection|Desulfovibrio infection|infection, Desulfovibrionaceae|infections, Lawsonia|Lawsonia infection|infections, Bilophila|Lawsonia infections|commensal Bilophila infection|Desulfovibrionaceae infection|infections, Desulfovibrio|Desulfovibrio infections|infection, Bilophila MONDO:0006727 diastolic heart failure biolink:Disease mondo ICD10:I50.30|ICD9:428.3|EFO:1000899|DOID:9775|MedDRA:10069211|MESH:D054144|ICD9:428.30|SCTID:418304008|ICD10:I50.3|UMLS:C1135196|COHD:443587 Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling. SNOMEDCT:418304008|DOID:9775|UMLS:C1135196|MESH:D054144 http://purl.obolibrary.org/obo/MONDO_0006727 MONDO:0006728 discitis biolink:Disease mondo UMLS:C0012624|SCTID:2304001|DOID:10986|EFO:1000900|ICD9:722.90|ICD10:M46.4|MESH:D015299 Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others. DOID:10986|MESH:D015299|SNOMEDCT:2304001|UMLS:C0012624 http://purl.obolibrary.org/obo/MONDO_0006728 intervertebral disk inflammation|inflammation of intervertebral disk MONDO:0006725 obsolete diabetic angiopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006725 MONDO:0006726 diaphragmatic eventration (disease) biolink:Disease mondo EFO:1000898|SCTID:34168003|MESH:D003965|HP:0009110|DOID:10480|ICD10:Q79.1 A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. SNOMEDCT:34168003|NCIT:C98912|DOID:10480|MESH:D003965 http://purl.obolibrary.org/obo/MONDO_0006726 diaphragmatic eventration MONDO:0006723 denture stomatitis biolink:Disease mondo SCTID:69254008|MESH:D013282|ICD9:528.9|DOID:11875|EFO:1000893|UMLS:C0038364|ICD10:K12.1 Inflammation of the mouth due to denture irritation. DOID:11875|MESH:D013282|UMLS:C0038364|SNOMEDCT:69254008 http://purl.obolibrary.org/obo/MONDO_0006723 denture sore mouth MONDO:0006724 obsolete desmoplastic small round cell tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006724 MONDO:0006721 de Quervain disease biolink:Disease mondo SCTID:21794005|ICD9:727.04|ICD10:M65.4|MESH:D053684|DOID:14107|COHD:73300|EFO:1000891|UMLS:C0149870 Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis. SNOMEDCT:21794005|UMLS:C0149870|DOID:14107|MESH:D053684 http://purl.obolibrary.org/obo/MONDO_0006721 tenosynovitis, de Quervain's|radial styloid tenosynovitis UBERON:0003339 ganglion of central nervous system biolink:AnatomicalEntity mondo A ganglion that is part of a central nervous system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003339 neuraxis ganglion|central nervous system ganglion|ganglion of neuraxis MONDO:0006722 dental fluorosis biolink:Disease mondo ICD10:K00.3|MedDRA:10016819|NCIT:C85059|UMLS:C0026618|DOID:13711|SCTID:30265004|EFO:1000892|MESH:D009050|ICD9:520.3 A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel. MESH:D009050|SNOMEDCT:30265004|UMLS:C0026618|DOID:13711|NCIT:C85059 http://purl.obolibrary.org/obo/MONDO_0006722 mottling of enamel|mottled teeth|fluorosis|intrinsic enamel discolouration of fluorosis CHEBI:48901 thiazoles biolink:ChemicalSubstance mondo An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom. http://purl.obolibrary.org/obo/CHEBI_48901 thiazole MONDO:0006720 cystic, mucinous, and serous neoplasm biolink:Disease mondo EFO:1000889|MESH:D018297 Neoplasms containing cyst-like formations or producing mucin or serum. MESH:D018297 http://purl.obolibrary.org/obo/MONDO_0006720 UBERON:0003346 mucosa of rectum biolink:AnatomicalEntity mondo A mucosa that is part of a rectum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003346 organ mucosa of rectum|rectum mucosa|mucous membrane of rectum|rectum organ mucosa|rectal mucosa|rectum mucosa of organ|rectal mucous membrane|rectum mucous membrane|mucosa of organ of rectum MONDO:0006718 cutaneous syphilis biolink:Disease mondo ICD10:A50.06|MESH:D013591|EFO:1000887 Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409) MESH:D013591 http://purl.obolibrary.org/obo/MONDO_0006718 Treponema pallidum skin disease caused by bacterial infection|Treponema pallidum caused skin disease caused by bacterial infection UBERON:0003342 mucosa of anal canal biolink:AnatomicalEntity mondo A mucosa that is part of an anal canal [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003342 anatomical anal canal mucosa of organ|anal region mucosa|mucous membrane of anatomical anal canal|organ mucosa of anatomical anal canal|mucosa of anatomical anal canal|anal canal viewed anatomically mucosa of organ|anal region organ mucosa|anal canal mucous membrane|anal canal viewed anatomically mucosa|anal region mucosa of organ|organ mucosa of anal region|anatomical anal canal mucosa|mucous membrane of anal region|mucosa of organ of anal canal|anal canal viewed anatomically organ mucosa|anatomical anal canal mucous membrane|anatomical anal canal organ mucosa|mucosa of organ of anatomical anal canal|mucosa of anal region|anal canal viewed anatomically mucous membrane|anal canal mucosa|mucosa of organ of anal canal viewed anatomically|anal canal organ mucosa|anal region mucous membrane|organ mucosa of anal canal|mucous membrane of anal canal|mucosa of organ of anal region|mucosa of anal canal viewed anatomically|anal mucosa|organ mucosa of anal canal viewed anatomically|anal mucous membrane|mucous membrane of anal canal viewed anatomically|anal canal mucosa of organ ECTO:9001687 micronutrient exposure biolink:OntologyClass mondo An exposure to micronutrient. http://purl.obolibrary.org/obo/ECTO_9001687 exposure to micronutrient UBERON:0003343 mucosa of oral region biolink:AnatomicalEntity mondo A mucosa that is part of a oral opening [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003343 oral opening mucous membrane|mucosa of organ of oral region|oral part of face mucosa|oral region mucous membrane|subdivision of mouth mucosa of organ|oral part of face organ mucosa|mucosa of organ of oral opening|subdivision of mouth mucous membrane|mucous membrane of oral part of face|organ mucosa of oral part of face|subdivision of mouth mucosa|oral part of face mucosa of organ|mucosa of oral opening|mucosa of oral part of face|organ mucosa of oral opening|mucosa of organ of subdivision of mouth|mucous membrane of oral opening|subdivision of mouth organ mucosa|oral opening mucosa|oral opening mucosa of organ|mucosa of organ of oral part of face|mucous membrane of oral region|oral region mucosa|mucosa of subdivision of mouth|oral part of face mucous membrane|organ mucosa of oral region|oral region mucosa of organ|oral opening organ mucosa|organ mucosa of subdivision of mouth|oral region organ mucosa|mucous membrane of subdivision of mouth MONDO:0006719 obsolete cystic lymphangioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006719 GO:0006023 aminoglycan biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. http://purl.obolibrary.org/obo/GO_0006023 aminoglycan anabolism|aminoglycan biosynthesis|aminoglycan synthesis|aminoglycan formation GO:0006024 glycosaminoglycan biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. http://purl.obolibrary.org/obo/GO_0006024 glycosaminoglycan formation|glycosaminoglycan biosynthesis|glycosaminoglycan anabolism|glycosaminoglycan synthesis GO:0006022 aminoglycan metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. http://purl.obolibrary.org/obo/GO_0006022 aminoglycan metabolism GO:0045639 positive regulation of myeloid cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation. http://purl.obolibrary.org/obo/GO_0045639 up-regulation of myeloid cell differentiation|activation of myeloid cell differentiation|upregulation of myeloid cell differentiation|up regulation of myeloid cell differentiation|stimulation of myeloid cell differentiation GO:0045637 regulation of myeloid cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of myeloid cell differentiation. http://purl.obolibrary.org/obo/GO_0045637 GO:0045638 negative regulation of myeloid cell differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. http://purl.obolibrary.org/obo/GO_0045638 downregulation of myeloid cell differentiation|down regulation of myeloid cell differentiation|inhibition of myeloid cell differentiation|down-regulation of myeloid cell differentiation GO:0045642 positive regulation of basophil differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of basophil differentiation. http://purl.obolibrary.org/obo/GO_0045642 up-regulation of basophil differentiation|activation of basophil differentiation|upregulation of basophil differentiation|up regulation of basophil differentiation|stimulation of basophil differentiation GO:0045640 regulation of basophil differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of basophil differentiation. http://purl.obolibrary.org/obo/GO_0045640 GO:0045641 negative regulation of basophil differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of basophil differentiation. http://purl.obolibrary.org/obo/GO_0045641 down regulation of basophil differentiation|inhibition of basophil differentiation|down-regulation of basophil differentiation|downregulation of basophil differentiation HGNC:16902 BCKDK biolink:OntologyClass mondo http://identifiers.org/hgnc/16902 HGNC:16905 KLHL41 biolink:OntologyClass mondo http://identifiers.org/hgnc/16905 GO:0045648 positive regulation of erythrocyte differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. http://purl.obolibrary.org/obo/GO_0045648 up regulation of erythrocyte differentiation|activation of erythrocyte differentiation|positive regulation of RBC differentiation|stimulation of erythrocyte differentiation|upregulation of erythrocyte differentiation|positive regulation of red blood cell differentiation|up-regulation of erythrocyte differentiation GO:0045649 regulation of macrophage differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of macrophage differentiation. http://purl.obolibrary.org/obo/GO_0045649 GO:0045646 regulation of erythrocyte differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of erythrocyte differentiation. http://purl.obolibrary.org/obo/GO_0045646 regulation of red blood cell differentiation|regulation of RBC differentiation HGNC:16901 SPEG biolink:OntologyClass mondo http://identifiers.org/hgnc/16901 GO:0045647 negative regulation of erythrocyte differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation. http://purl.obolibrary.org/obo/GO_0045647 down-regulation of erythrocyte differentiation|negative regulation of RBC differentiation|negative regulation of red blood cell differentiation|down regulation of erythrocyte differentiation|inhibition of erythrocyte differentiation|downregulation of erythrocyte differentiation GO:0006006 glucose metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. http://purl.obolibrary.org/obo/GO_0006006 cellular glucose metabolic process|glucose metabolism GO:0045655 regulation of monocyte differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of monocyte differentiation. http://purl.obolibrary.org/obo/GO_0045655 GO:0045656 negative regulation of monocyte differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation. http://purl.obolibrary.org/obo/GO_0045656 down regulation of monocyte differentiation|inhibition of monocyte differentiation|down-regulation of monocyte differentiation|downregulation of monocyte differentiation RO:0003001 produced_by biolink:OntologyClass mondo a produced_by b iff some process that occurs_in b has_output a. http://purl.obolibrary.org/obo/RO_0003001 GO:0045653 negative regulation of megakaryocyte differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation. http://purl.obolibrary.org/obo/GO_0045653 down-regulation of megakaryocyte differentiation|down regulation of megakaryocyte differentiation|inhibition of megakaryocyte differentiation|downregulation of megakaryocyte differentiation GO:0045654 positive regulation of megakaryocyte differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation. http://purl.obolibrary.org/obo/GO_0045654 stimulation of megakaryocyte differentiation|upregulation of megakaryocyte differentiation|up-regulation of megakaryocyte differentiation|up regulation of megakaryocyte differentiation|activation of megakaryocyte differentiation GO:0045651 positive regulation of macrophage differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of macrophage differentiation. http://purl.obolibrary.org/obo/GO_0045651 upregulation of macrophage differentiation|up regulation of macrophage differentiation|stimulation of macrophage differentiation|up-regulation of macrophage differentiation|activation of macrophage differentiation GO:0006000 fructose metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. http://purl.obolibrary.org/obo/GO_0006000 fructose metabolism GO:0045652 regulation of megakaryocyte differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of megakaryocyte differentiation. http://purl.obolibrary.org/obo/GO_0045652 RO:0003000 produces biolink:OntologyClass mondo a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. http://purl.obolibrary.org/obo/RO_0003000 GO:0045650 negative regulation of macrophage differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation. http://purl.obolibrary.org/obo/GO_0045650 downregulation of macrophage differentiation|down regulation of macrophage differentiation|inhibition of macrophage differentiation|down-regulation of macrophage differentiation GO:0070613 regulation of protein processing biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein processing, any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. http://purl.obolibrary.org/obo/GO_0070613 regulation of protein maturation by peptide bond cleavage GO:0045657 positive regulation of monocyte differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of monocyte differentiation. http://purl.obolibrary.org/obo/GO_0045657 upregulation of monocyte differentiation|up regulation of monocyte differentiation|stimulation of monocyte differentiation|up-regulation of monocyte differentiation|activation of monocyte differentiation NCBITaxon:1980517 Orthonairovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980517 Nairovirus|Nairoviruses NCBITaxon:1980519 Crimean-Congo hemorrhagic fever orthonairovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1980519 Crimean-Congo hemorrhagic virus|Crimean-Congo hemorrhagic fever nairovirus|Crimean-Congo hemorrhagic fever virus|Crimean-Congo haemorrhagic fever virus|CCHFV GO:0045666 positive regulation of neuron differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of neuron differentiation. http://purl.obolibrary.org/obo/GO_0045666 up-regulation of neuron differentiation|activation of neuron differentiation|upregulation of neuron differentiation|up regulation of neuron differentiation|stimulation of neuron differentiation GO:0045667 regulation of osteoblast differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of osteoblast differentiation. http://purl.obolibrary.org/obo/GO_0045667 GO:0006012 galactose metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. http://purl.obolibrary.org/obo/GO_0006012 galactose metabolism GO:0043005 neuron projection biolink:OntologyClass mondo A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. http://purl.obolibrary.org/obo/GO_0043005 neuron protrusion|neurite|neuronal cell projection|neuron process|nerve fiber GO:0045664 regulation of neuron differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of neuron differentiation. http://purl.obolibrary.org/obo/GO_0045664 GO:0045665 negative regulation of neuron differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. http://purl.obolibrary.org/obo/GO_0045665 downregulation of neuron differentiation|down regulation of neuron differentiation|inhibition of neuron differentiation|down-regulation of neuron differentiation GO:0045668 negative regulation of osteoblast differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation. http://purl.obolibrary.org/obo/GO_0045668 downregulation of osteoblast differentiation|down regulation of osteoblast differentiation|inhibition of osteoblast differentiation|down-regulation of osteoblast differentiation GO:0043009 chordate embryonic development biolink:OntologyClass mondo The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. http://purl.obolibrary.org/obo/GO_0043009 GO:0045669 positive regulation of osteoblast differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. http://purl.obolibrary.org/obo/GO_0045669 up regulation of osteoblast differentiation|stimulation of osteoblast differentiation|up-regulation of osteoblast differentiation|activation of osteoblast differentiation|upregulation of osteoblast differentiation GO:0045670 regulation of osteoclast differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of osteoclast differentiation. http://purl.obolibrary.org/obo/GO_0045670 UBERON:0003409 gland of tongue biolink:AnatomicalEntity mondo Any of the mucous, serous, or mixed glands that empty their secretions onto the surface of the tongue. http://purl.obolibrary.org/obo/UBERON_0003409 tongue gland|lingual gland GO:0033605 positive regulation of catecholamine secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. http://purl.obolibrary.org/obo/GO_0033605 up-regulation of catecholamine secretion|up regulation of catecholamine secretion|activation of catecholamine secretion|stimulation of catecholamine secretion|upregulation of catecholamine secretion GO:0033604 negative regulation of catecholamine secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine. http://purl.obolibrary.org/obo/GO_0033604 down regulation of catecholamine secretion|inhibition of catecholamine secretion|downregulation of catecholamine secretion|down-regulation of catecholamine secretion UBERON:0003408 gland of digestive tract biolink:AnatomicalEntity mondo A gland that is part of a digestive tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003408 lower gastrointestinal tract gland|gland of lower gastrointestinal tract|gland of digestive tract|digestive tract gland|gut gland GO:0033603 positive regulation of dopamine secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine. http://purl.obolibrary.org/obo/GO_0033603 upregulation of dopamine secretion|up regulation of dopamine secretion|stimulation of dopamine secretion|up-regulation of dopamine secretion|activation of dopamine secretion GO:0033602 negative regulation of dopamine secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine. http://purl.obolibrary.org/obo/GO_0033602 down regulation of dopamine secretion|inhibition of dopamine secretion|down-regulation of dopamine secretion|downregulation of dopamine secretion UBERON:0003405 lobar bronchus of left lung biolink:AnatomicalEntity mondo A lobar bronchus that is part of a left lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003405 secondary bronchus of left lung|left lung secondary bronchus|left lobar bronchus|left lung lobar bronchus GO:0008645 hexose transmembrane transport biolink:OntologyClass mondo The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/GO_0008645 hexose transport|low-affinity hexose transport|high-affinity hexose transport|hexose membrane transport UBERON:0003406 cartilage of respiratory system biolink:AnatomicalEntity mondo A cartilage element that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003406 respiratory system cartilage|apparatus respiratorius cartilage|cartilage of apparatus respiratorius GO:0008643 carbohydrate transport biolink:OntologyClass mondo The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/GO_0008643 sugar transport GO:0043010 camera-type eye development biolink:OntologyClass mondo The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/GO_0043010 GO:0045671 negative regulation of osteoclast differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. http://purl.obolibrary.org/obo/GO_0045671 downregulation of osteoclast differentiation|down regulation of osteoclast differentiation|inhibition of osteoclast differentiation|down-regulation of osteoclast differentiation GO:0045672 positive regulation of osteoclast differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of osteoclast differentiation. http://purl.obolibrary.org/obo/GO_0045672 up-regulation of osteoclast differentiation|activation of osteoclast differentiation|upregulation of osteoclast differentiation|up regulation of osteoclast differentiation|stimulation of osteoclast differentiation GO:0043011 myeloid dendritic cell differentiation biolink:OntologyClass mondo The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. http://purl.obolibrary.org/obo/GO_0043011 UBERON:0003414 mesenchyme of mandible biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing mandible [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003414 mesenchyme of bone organ of lower jaw|mesenchyme of ventral mandibular arch bone|bone of ventral mandibular arch mesenchyme|mesenchyme of mandibulla|mandible mesenchyme|mandibulla mesenchyme|ventral mandibular arch bone mesenchyme|ventral mandibular arch bone organ mesenchyme|lower jaw bone mesenchyme|bone organ of lower jaw mesenchyme|mesenchyme of lower jaw bone organ|mesenchyme of bone of ventral mandibular arch|bone of lower jaw mesenchyme|mesenchyme of lower jaw bone|mesenchyme of bone organ of ventral mandibular arch|lower jaw bone organ mesenchyme|mesenchyme of ventral mandibular arch bone organ|mesenchyme of bone of lower jaw|bone organ of ventral mandibular arch mesenchyme UBERON:0003412 pelvic appendage bud mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a pelvic appendage bud. http://purl.obolibrary.org/obo/UBERON_0003412 leg mesenchyme|mesoderm pelvic fin bud|pelvic fin bud mesenchyme|lower limb bud mesenchyme|hindlimb bud mesenchyme UBERON:0003413 pectoral appendage bud mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a pectoral appendage bud. http://purl.obolibrary.org/obo/UBERON_0003413 wing mesenchyme|arm mesenchyme|forelimb bud mesenchyme|pectoral fin bud mesenchyme|upper limb bud mesenchyme|mesoderm pectoral fin bud UBERON:0003410 oropharyngeal gland biolink:AnatomicalEntity mondo A gland that is part of a oropharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003410 oropharynx gland|oral part of pharynx gland|gland of oropharynx|gland of oral part of pharynx HGNC:1706 CD8A biolink:OntologyClass mondo http://identifiers.org/hgnc/1706 GO:0055007 cardiac muscle cell differentiation biolink:OntologyClass mondo The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. http://purl.obolibrary.org/obo/GO_0055007 cardiomyocyte differentiation|heart muscle cell differentiation HGNC:1701 CD81 biolink:OntologyClass mondo http://identifiers.org/hgnc/1701 GO:0008654 phospholipid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/GO_0008654 phospholipid anabolism|phospholipid biosynthesis|phospholipid synthesis|phospholipid formation GO:0008652 cellular amino acid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents. http://purl.obolibrary.org/obo/GO_0008652 cellular amino acid synthesis|cellular amino acid biosynthesis|cellular amino acid formation|cellular amino acid anabolism|amino acid biosynthetic process GO:0045684 positive regulation of epidermis development biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of epidermis development. http://purl.obolibrary.org/obo/GO_0045684 up regulation of epidermis development|positive regulation of epidermal development|positive regulation of hypodermis development|activation of epidermis development|stimulation of epidermis development|upregulation of epidermis development|up-regulation of epidermis development GO:0043020 NADPH oxidase complex biolink:OntologyClass mondo A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. http://purl.obolibrary.org/obo/GO_0043020 respiratory-burst oxidase|flavocytochrome b558 GO:0045682 regulation of epidermis development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of epidermis development. http://purl.obolibrary.org/obo/GO_0045682 regulation of hypodermis development|regulation of epidermal development CHEBI:22271 aflatoxin biolink:ChemicalSubstance mondo Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins http://purl.obolibrary.org/obo/CHEBI_22271 aflatoxins GO:0045683 negative regulation of epidermis development biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of epidermis development. http://purl.obolibrary.org/obo/GO_0045683 negative regulation of epidermal development|down-regulation of epidermis development|down regulation of epidermis development|inhibition of epidermis development|negative regulation of hypodermis development|downregulation of epidermis development GO:0070626 (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity biolink:OntologyClass mondo Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide. http://purl.obolibrary.org/obo/GO_0070626 adenylosuccinase activity|adenylosuccinate lyase activity|succino AMP-lyase activity UBERON:0003403 skin of forearm biolink:AnatomicalEntity mondo A zone of skin that is part of a lower arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003403 skin of antebrachial region|lower arm skin|lower segment of arm skin|forearm skin|skin of zeugopod of arm|skin of lower arm|skin of lower segment of arm UBERON:0003404 lobar bronchus of right lung biolink:AnatomicalEntity mondo A lobar bronchus that is part of a right lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003404 secondary bronchus of right lung|right lung lobar bronchus|right lung secondary bronchus|right lobar bronchus CHEBI:48873 cholinergic antagonist biolink:ChemicalSubstance mondo Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists. http://purl.obolibrary.org/obo/CHEBI_48873 agente anticolinergico|agent anticholinergique|Anticholinergika|acetylcholine receptor antagonist|Anticholinergikum|anticholinergiques|cholinergic-blocking agents|anticholinergics|anticolinergicos|anticholinergic agents|agentes anticolinergicos|acetylcholine antagonists HGNC:1718 CDC14A biolink:OntologyClass mondo http://identifiers.org/hgnc/1718 GO:0043030 regulation of macrophage activation biolink:OntologyClass mondo Any process that modulates the frequency or rate of macrophage activation. http://purl.obolibrary.org/obo/GO_0043030 regulation of macrophage polarization HGNC:1713 CDAN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/1713 GO:0043032 positive regulation of macrophage activation biolink:OntologyClass mondo Any process that stimulates, induces or increases the rate of macrophage activation. http://purl.obolibrary.org/obo/GO_0043032 up-regulation of macrophage activation|up regulation of macrophage activation|activation of macrophage activation|positive regulation of macrophage polarization|stimulation of macrophage activation|upregulation of macrophage activation GO:0043031 negative regulation of macrophage activation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation. http://purl.obolibrary.org/obo/GO_0043031 inhibition of macrophage activation|downregulation of macrophage activation|negative regulation of macrophage polarization|down-regulation of macrophage activation|down regulation of macrophage activation CHEBI:36885 20-oxo steroid biolink:ChemicalSubstance mondo An oxo steroid carrying an oxo group at position 20. http://purl.obolibrary.org/obo/CHEBI_36885 20-oxo steroids GO:0043043 peptide biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. http://purl.obolibrary.org/obo/GO_0043043 peptide synthesis|peptide formation|peptide biosynthesis|peptide anabolism GO:0055025 positive regulation of cardiac muscle tissue development biolink:OntologyClass mondo Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development. http://purl.obolibrary.org/obo/GO_0055025 up regulation of cardiac muscle development|stimulation of cardiac muscle development|up-regulation of cardiac muscle development|activation of cardiac muscle development|positive regulation of heart muscle development|upregulation of cardiac muscle development GO:0055026 negative regulation of cardiac muscle tissue development biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development. http://purl.obolibrary.org/obo/GO_0055026 downregulation of cardiac muscle development|negative regulation of heart muscle development|down regulation of cardiac muscle development|inhibition of cardiac muscle development|down-regulation of cardiac muscle development CHEBI:46209 L-tyrosinal biolink:ChemicalSubstance mondo An amino aldehyde that is L-tyrosine in which the carboxy group has undergone formal redution to give the corrresponding aldehyde http://purl.obolibrary.org/obo/CHEBI_46209 (2S)-2-amino-3-(4-hydroxyphenyl)propanal|(2S)-2-amino-3-(p-hydroxyphenyl)propanal|L-tyr aldehyde|TYROSINAL GO:0070643 vitamin D 25-hydroxylase activity biolink:OntologyClass mondo Catalysis of the hydroxylation of C-25 of any form of vitamin D. http://purl.obolibrary.org/obo/GO_0070643 vitamin D2 25-hydroxylase activity|calciferol 25-hydroxylase activity|ergocalciferol 25-hydroxylase activity|cholecalciferol 25-hydroxylase activity GO:0070640 vitamin D3 metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving vitamin D3, (3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol. http://purl.obolibrary.org/obo/GO_0070640 cholecalciferol metabolic process|vitamin D3 metabolism|calciol metabolic process GO:0055024 regulation of cardiac muscle tissue development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cardiac muscle tissue development. http://purl.obolibrary.org/obo/GO_0055024 regulation of heart muscle development HP:0005368 Abnormality of humoral immunity biolink:PhenotypicFeature mondo UMLS:C3150510 An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. http://purl.obolibrary.org/obo/HP_0005368 Defective humoral immunity MONDO:0018590 ABeta2M amyloidosis biolink:Disease mondo Orphanet:439246 ORPHA:439246 http://purl.obolibrary.org/obo/MONDO_0018590 Beta2-microglobulinic amyloidosis ordo_group_of_disorders MONDO:0018592 cutaneous polyarteritis nodosa biolink:Disease mondo Orphanet:439729|UMLS:CN242143|GARD:0007415|UMLS:C0343190|NCIT:C117295|ICD9:709.8|SCTID:239926000|ICD10:M30.0 Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy. SNOMEDCT:239926000|ORPHA:439729|NCIT:C117295|UMLS:CN242143|UMLS:C0343190 http://purl.obolibrary.org/obo/MONDO_0018592 cutaneous PAN|cutaneous periarteritis nodosa ordo_clinical_subtype|gard_rare MONDO:0018591 ITM2B amyloidosis biolink:Disease mondo UMLS:CN237622|ICD10:I68.0*|ICD9:277.39|Orphanet:439254|SCTID:45639009|ICD10:E85.4+ UMLS:CN237622|ORPHA:439254|SNOMEDCT:45639009 http://purl.obolibrary.org/obo/MONDO_0018591 familial cerebral amyloid angiopathy|ITM2B-related amyloidosis|ITM2B-related cerebral amyloid angiopathy ordo_disease MONDO:0043576 endarteritis biolink:Disease mondo EFO:0009084|SCTID:33806008|NCIT:C34581|MESH:D004692|UMLS:C0014100 Inflammation of the arterial intima. SNOMEDCT:33806008|MESH:D004692|UMLS:C0014100|NCIT:C34581 http://purl.obolibrary.org/obo/MONDO_0043576 tunica intima of artery inflammation|endarteritis|Endarteritides|inflammation of tunica intima of artery RO:0040035 disease relationship biolink:OntologyClass mondo This relation groups relations between diseases and any other kind of entity. http://purl.obolibrary.org/obo/RO_0040035 ECTO:9001702 macronutrient exposure biolink:OntologyClass mondo An exposure to macronutrient. http://purl.obolibrary.org/obo/ECTO_9001702 exposure to macronutrient ECTO:9001701 reagent exposure biolink:OntologyClass mondo An exposure to reagent. http://purl.obolibrary.org/obo/ECTO_9001701 exposure to reagent HP:0030347 Abnormal circulating androgen level biolink:PhenotypicFeature mondo UMLS:C4072892 An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. http://purl.obolibrary.org/obo/HP_0030347 HP:0030348 Increased circulating androgen level biolink:PhenotypicFeature mondo UMLS:C4072893 An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. http://purl.obolibrary.org/obo/HP_0030348 MONDO:0018598 neonatal adrenoleukodystrophy biolink:Disease mondo NCIT:C99251|ICD10:E71.511|Orphanet:44|SCTID:238061001|UMLS:C0282525|ICD10:E71.3|GARD:0000559 Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). SNOMEDCT:238061001|UMLS:C0282525|NCIT:C99251|ORPHA:44|MESH:D018901 http://purl.obolibrary.org/obo/MONDO_0018598 NALD|adrenoleukodystrophy autosomal neonatal form gard_rare|ordo_disease MONDO:0018597 plastic bronchitis biolink:Disease mondo UMLS:C0264342|SCTID:53926002|Orphanet:439881 A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe. SNOMEDCT:53926002|UMLS:C0264342|ORPHA:439881 http://purl.obolibrary.org/obo/MONDO_0018597 croupous bronchitis|fibrinous bronchitis|pseudo-membranous bronchitis ordo_clinical_situation MONDO:0018599 congenital oculomotor nerve palsy biolink:Disease mondo Orphanet:440221|ICD10:Q07.8 ORPHA:440221 http://purl.obolibrary.org/obo/MONDO_0018599 congenital third cranial nerve palsy|congenital CNIII lesion ordo_disease MONDO:0018594 secondary polyarteritis nodosa biolink:Disease mondo UMLS:CN237624|ICD10:M30.8|Orphanet:439746 Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV). UMLS:CN237624|ORPHA:439746 http://purl.obolibrary.org/obo/MONDO_0018594 secondary PAN|Scondary PAN|secondary periarteritis nodosa ordo_clinical_subtype MONDO:0018593 primary polyarteritis nodosa biolink:Disease mondo UMLS:CN237623|ICD10:M30.0|Orphanet:439737 UMLS:CN237623|ORPHA:439737 http://purl.obolibrary.org/obo/MONDO_0018593 primary periarteritis nodosa|primary PAN ordo_clinical_subtype HP:0005372 Abnormality of B cell physiology biolink:PhenotypicFeature mondo UMLS:C1849242 An abnormality of the physiological functioning of B cells. http://purl.obolibrary.org/obo/HP_0005372 Abnormality of B cell physiology|Reduced B cell function MONDO:0018596 systemic polyarteritis nodosa biolink:Disease mondo ICD10:M30.0|Orphanet:439762|UMLS:CN242146 Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement. UMLS:CN242146|ORPHA:439762 http://purl.obolibrary.org/obo/MONDO_0018596 systemic periarteritis nodosa|systemic PAN ordo_clinical_subtype MONDO:0018595 single-organ polyarteritis nodosa biolink:Disease mondo UMLS:CN242112|ICD10:M30.0|Orphanet:439755 Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common. UMLS:CN242112|ORPHA:439755 http://purl.obolibrary.org/obo/MONDO_0018595 single-organ PAN|single-organ periarteritis nodosa ordo_clinical_subtype MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus biolink:Disease mondo ICD10:G04.8|UMLS:C1861457|GARD:0013110|Orphanet:438266 UMLS:C1861457|ORPHA:438266 http://purl.obolibrary.org/obo/MONDO_0018581 perm ordo_clinical_subtype|gard_rare MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome biolink:Disease mondo Orphanet:438213|UMLS:CN237608|ICD10:G40.4 UMLS:CN237608|ORPHA:438213 http://purl.obolibrary.org/obo/MONDO_0018580 ordo_disease MONDO:0006598 phototoxic dermatitis biolink:Disease mondo MESH:D017484|SCTID:53597009|UMLS:C0162830|EFO:1000753|DOID:4407|Wikipedia:Photodermatitis|NCIT:C4816 Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. NCIT:C4816|DOID:4407|UMLS:C0162830|SNOMEDCT:53597009|MESH:D017484 http://purl.obolibrary.org/obo/MONDO_0006598 Photodermatitis|photosensitive dermatitis|photosensitivity reaction|Photosensitisation reaction|photosensitiveness MONDO:0006599 physical urticaria biolink:Disease mondo DOID:0060220|EFO:1000754|SCTID:402601007 A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously. DOID:0060220|SNOMEDCT:402601007 http://purl.obolibrary.org/obo/MONDO_0006599 MONDO:0006596 photoallergic dermatitis biolink:Disease mondo ICD9:692.72|DOID:3818|EFO:1000751|UMLS:C0162824|MESH:D017454|Wikipedia:Photodermatitis|SCTID:111209006 A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin. UMLS:C0162824|SNOMEDCT:111209006|DOID:3818|MESH:D017454 http://purl.obolibrary.org/obo/MONDO_0006596 photoallergic contact dermatitis|photoallergic eczema MONDO:0043589 femoral neck fracture biolink:Disease mondo SCTID:5913000|EFO:1001792|MESH:D005265 Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES. SNOMEDCT:5913000|MESH:D005265 http://purl.obolibrary.org/obo/MONDO_0043589 fracture of neck of femur|femur neck fracture|nof - fracture of neck of femur|neck of femur bone fracture|femur neck fractures|fracture of hip|femoral neck fracture|bone fracture of neck of femur MONDO:0006597 photosensitivity disease biolink:Disease mondo EFO:1000752|MESH:D010787|UMLS:C0031762|DOID:3159|SCTID:22649008 Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy. UMLS:C0031762|DOID:3159|SNOMEDCT:22649008|MESH:D010787 http://purl.obolibrary.org/obo/MONDO_0006597 disorder, photosensitivity|photosensitization|photodermatosis|photodermatitis|photodermatitides|disorders, photosensitivity|photosensitivity disorder MONDO:0006594 pemphigus biolink:Disease mondo MESH:D010392|DOID:9182|COHD:135338|ICD10:L10.9|SCTID:65172003|ICD9:694.4|UMLS:C0030807|EFO:1000749|ICD10:L10|Wikipedia:Pemphigus|NCIT:C34909|GARD:0007352 Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus UMLS:C0030807|NCIT:C34909|SNOMEDCT:65172003|MESH:D010392|DOID:9182 http://purl.obolibrary.org/obo/MONDO_0006594 gard_rare MONDO:0006595 perinatal jaundice due to hepatocellular damage biolink:Disease mondo UMLS:C0158976|EFO:1000750|SCTID:10877007|COHD:195064|DOID:11452|ICD9:774.4 Jaundice in perinates due to cellular damange of liver. UMLS:C0158976|DOID:11452|SNOMEDCT:10877007 http://purl.obolibrary.org/obo/MONDO_0006595 MONDO:0006592 parapsoriasis biolink:Disease mondo UMLS:C0030491|COHD:320798|MESH:D010267|NCIT:C3312|Wikipedia:Parapsoriasis|GARD:0007328|SCTID:88233000|ICD10:L41|ICD10:L41.9|EFO:1000747|ICD9:696.2|DOID:9088 Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids. UMLS:C0030491|SNOMEDCT:88233000|MESH:D010267|DOID:9088|NCIT:C3312 http://purl.obolibrary.org/obo/MONDO_0006592 digitate dermatosis|parapsoriasis en plaque gard_rare MONDO:0006593 pelvic lipomatosis biolink:Disease mondo GARD:0007350|MESH:C535549|EFO:1000748|UMLS:C0406608|DOID:3927|NCIT:C27486 A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males. UMLS:C0406608|MESH:C535549|DOID:3927|NCIT:C27486 http://purl.obolibrary.org/obo/MONDO_0006593 pelvic lipomatosis (morphologic abnormality)|Excess of mature unencapsulated fatty tissue in the pelvis|pelvic lipomatosis gard_rare MONDO:0006590 palmoplantar keratosis biolink:Disease mondo DOID:3390|ICD9:757.39|SCTID:706885006|EFO:1000745|NCIT:C34748|GARD:0008167|ICD10:L85.2 A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis. NCIT:C34748|SNOMEDCT:706885006|DOID:3390 http://purl.obolibrary.org/obo/MONDO_0006590 keratosis palmaris et plantaris|palmoplantar keratoderma|keratoderma, palmoplantar GO:0006094 gluconeogenesis biolink:OntologyClass mondo The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. http://purl.obolibrary.org/obo/GO_0006094 glucose biosynthesis|glucose biosynthetic process MONDO:0006591 panniculitis biolink:Disease mondo ICD9:729.30|ICD9:729.3|MESH:D015434|Wikipedia:Panniculitis|ICD9:729.39|ICD10:M79.3|COHD:432719|NCIT:C33645|UMLS:C0030326|EFO:1000746|SCTID:22125009|DOID:1526 Inflammation of the subcutaneous adipose tissue. UMLS:C0030326|SNOMEDCT:22125009|NCIT:C33645|NCIT:C112112|DOID:1526|MESH:D015434 http://purl.obolibrary.org/obo/MONDO_0006591 Subcutaneous tissue|subcutis|inflammation of subcutaneous adipose tissue|Subcutaneous adipose tissue|subcutaneous adipose tissue inflammation GO:0006090 pyruvate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. http://purl.obolibrary.org/obo/GO_0006090 pyruvate dehydrogenase bypass|pyruvate metabolism MONDO:0043579 enteritis biolink:Disease mondo UMLS:C0014335|NCIT:C26765|SCTID:64613007|MESH:D004751 Inflammation of the small intestine. NCIT:C26765|MESH:D004751|UMLS:C0014335|SNOMEDCT:64613007 http://purl.obolibrary.org/obo/MONDO_0043579 enteritis of small intestine|inflammation of small intestine|enteritis|Enteritides|enteritis, inflammatory disorder of small intestine|small intestine inflammation GO:0006091 generation of precursor metabolites and energy biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. http://purl.obolibrary.org/obo/GO_0006091 energy pathways|intermediary metabolism|metabolic energy generation MONDO:0018587 non-recovering obstetric brachial plexus lesion biolink:Disease mondo UMLS:CN237616|ICD10:P14.3|Orphanet:439202 UMLS:CN237616|ORPHA:439202 http://purl.obolibrary.org/obo/MONDO_0018587 chronic obstetric brachial plexus palsy|non-recovering OBPI|chronic obstetric brachial plexus injury|non-recovering OBPL ordo_disease MONDO:0018586 zinc-responsive necrolytic acral erythema biolink:Disease mondo UMLS:CN237615|ICD10:L53.8|Orphanet:439196|SCTID:762543009 UMLS:CN237615|SNOMEDCT:762543009|ORPHA:439196 http://purl.obolibrary.org/obo/MONDO_0018586 NAE|necrolytic acral erythema ordo_clinical_situation MONDO:0018589 AApoAIV amyloidosis biolink:Disease mondo Orphanet:439232|ICD10:E85.8 ORPHA:439232 http://purl.obolibrary.org/obo/MONDO_0018589 apolipoprotein A-IV amyloidosis ordo_disease MONDO:0018588 ALECT2 amyloidosis biolink:Disease mondo ICD10:E85.8|Orphanet:439224 A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands. ORPHA:439224 http://purl.obolibrary.org/obo/MONDO_0018588 LECT2 amyloidosis|leukocyte chemotactic factor-2 amyloidosis ordo_disease MONDO:0018583 human infection by orthopoxvirus biolink:Disease mondo UMLS:CN237612|ICD10:B08.0|Orphanet:438279 UMLS:CN237612|ORPHA:438279 http://purl.obolibrary.org/obo/MONDO_0018583 ordo_disease MONDO:0018582 GCGR-related hyperglucagonemia biolink:Disease mondo Orphanet:438274|UMLS:CN237611|ICD10:E16.3|GARD:0010460 UMLS:CN237611|ORPHA:438274 http://purl.obolibrary.org/obo/MONDO_0018582 Mahvash disease|Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor|Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor ordo_disease MONDO:0018585 pediatric arterial ischemic stroke biolink:Disease mondo Orphanet:439175|ICD10:I63.5 ORPHA:439175 http://purl.obolibrary.org/obo/MONDO_0018585 pediatric AIS|childhood arterial ischemic stroke|childhood AIS ordo_clinical_syndrome MONDO:0018584 obsolete placental insufficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018584 MONDO:0018570 hypophosphatasia biolink:Disease mondo GARD:0006734|NCIT:C26798|Orphanet:436|MESH:D007014|SCTID:360792001|ICD10:E83.39|ICD9:277.6|ICD10:E83.3|UMLS:C0020630|DOID:14213|MedDRA:10049933 Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). MEDDRA:10049933|DOID:14213|ORPHA:436|MESH:D007014|SNOMEDCT:360792001|NCIT:C26798|UMLS:C0020630 http://purl.obolibrary.org/obo/MONDO_0018570 childhood hypophosphatasia|phosphoethanol-aminuria|deficiency of alkaline phosphatase (disorder) [ambiguous]|hypophospatasia, childhood|Rathburn disease|phosphoethanolaminuria|deficiency of alkaline phosphatase|hypophosphatasia mild|HPP ordo_disease GO:0006099 tricarboxylic acid cycle biolink:OntologyClass mondo A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle. http://purl.obolibrary.org/obo/GO_0006099 TCA cycle|Krebs cycle|citric acid cycle GO:0006096 glycolytic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. http://purl.obolibrary.org/obo/GO_0006096 anaerobic glycolysis|glycolysis|Embden-Meyerhof-Parnas pathway|Embden-Meyerhof pathway|modifed Embden-Meyerhof pathway MONDO:0018579 disorder of ketone body transport biolink:Disease mondo UMLS:CN237600|Orphanet:438072 ORPHA:438072|UMLS:CN237600 http://purl.obolibrary.org/obo/MONDO_0018579 disorder of ketone body transport|disorder of keton body transport ordo_group_of_disorders MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy biolink:Disease mondo ICD10:G93.4|Orphanet:436271 ORPHA:436271 http://purl.obolibrary.org/obo/MONDO_0018576 ordo_disease MONDO:0018575 microcephalic primordial dwarfism-insulin resistance syndrome biolink:Disease mondo ICD10:Q87.1|Orphanet:436182|UMLS:CN237592 ORPHA:436182|UMLS:CN237592 http://purl.obolibrary.org/obo/MONDO_0018575 ordo_malformation_syndrome MONDO:0018578 obsolete hypophosphatemic rickets biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018578 MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa biolink:Disease mondo Orphanet:436274|ICD10:Q82.8|UMLS:CN237597 ORPHA:436274|UMLS:CN237597 http://purl.obolibrary.org/obo/MONDO_0018577 PXE-like syndrome with retinitis pigmentosa ordo_disease MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome biolink:Disease mondo Orphanet:436141|UMLS:CN237585|ICD10:Q87.8 ORPHA:436141|UMLS:CN237585 http://purl.obolibrary.org/obo/MONDO_0018572 ordo_malformation_syndrome MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome biolink:Disease mondo UMLS:CN237584|ICD10:Q87.0|Orphanet:436003 ORPHA:436003|UMLS:CN237584 http://purl.obolibrary.org/obo/MONDO_0018571 5q23 microdeletion syndrome ordo_malformation_syndrome MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome biolink:Disease mondo Orphanet:436151|ICD10:Q87.0|UMLS:CN237587 ORPHA:436151|UMLS:CN237587 http://purl.obolibrary.org/obo/MONDO_0018574 intellectual disability-loss of expressive language-facial dysmorphism syndrome ordo_disease MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome biolink:Disease mondo UMLS:CN237586|ICD10:Q87.1|Orphanet:436144 ORPHA:436144|UMLS:CN237586 http://purl.obolibrary.org/obo/MONDO_0018573 ordo_disease MONDO:0043523 cadmium poisoning biolink:Disease mondo MESH:D002105|SCTID:3398004 Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis. SNOMEDCT:3398004|MESH:D002105 http://purl.obolibrary.org/obo/MONDO_0043523 Itai Itai|cadmium Poisonings|Poisonings, cadmium|Itai-Itai|poisoning, cadmium|cadmium poisoning GO:0006066 alcohol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolism GO:0006073 cellular glucan metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/GO_0006073 cellular glucan metabolism MONDO:0043519 burn biolink:Disease mondo EFO:1001768|NCIT:C34441|MESH:D002056|SCTID:125666000 A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. MESH:D002056|NCIT:C34441|SNOMEDCT:125666000 http://purl.obolibrary.org/obo/MONDO_0043519 burn|Burn|Burn(s) GO:0006071 glycerol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/GO_0006071 glycerol metabolism HGNC:26291 BBS10 biolink:OntologyClass mondo http://identifiers.org/hgnc/26291 GO:0033683 nucleotide-excision repair, DNA incision biolink:OntologyClass mondo A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. http://purl.obolibrary.org/obo/GO_0033683 DNA incision involved in nucleotide-excision repair|nucleic acid cleavage involved in nucleotide-excision repair GO:0045600 positive regulation of fat cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. http://purl.obolibrary.org/obo/GO_0045600 positive regulation of adipocyte differentiation|stimulation of fat cell differentiation|up regulation of fat cell differentiation|positive regulation of adipocyte cell differentiation|up-regulation of fat cell differentiation|activation of fat cell differentiation|upregulation of fat cell differentiation MONDO:0043529 carcinoid heart disease biolink:Disease mondo UMLS:C0007093|EFO:1001775|MESH:D002275|SCTID:36222008 Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation. MESH:D002275|UMLS:C0007093|SNOMEDCT:36222008 http://purl.obolibrary.org/obo/MONDO_0043529 carcinoid heart diseases|heart diseases, carcinoid|carcinoid heart disease|heart disease, carcinoid GO:0045606 positive regulation of epidermal cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation. http://purl.obolibrary.org/obo/GO_0045606 stimulation of epidermal cell differentiation|up-regulation of epidermal cell differentiation|activation of epidermal cell differentiation|positive regulation of hypodermal cell differentiation|upregulation of epidermal cell differentiation|up regulation of epidermal cell differentiation GO:0006082 organic acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolism GO:0045604 regulation of epidermal cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of epidermal cell differentiation. http://purl.obolibrary.org/obo/GO_0045604 regulation of hypodermal cell differentiation GO:0045605 negative regulation of epidermal cell differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation. http://purl.obolibrary.org/obo/GO_0045605 downregulation of epidermal cell differentiation|down regulation of epidermal cell differentiation|inhibition of epidermal cell differentiation|down-regulation of epidermal cell differentiation|negative regulation of hypodermal cell differentiation GO:0031012 extracellular matrix biolink:OntologyClass mondo A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. http://purl.obolibrary.org/obo/GO_0031012 proteinaceous extracellular matrix|matrisome GO:0033674 positive regulation of kinase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_0033674 kinase activator|up-regulation of kinase activity|up regulation of kinase activity|stimulation of kinase activity|upregulation of kinase activity GO:0033673 negative regulation of kinase activity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_0033673 down regulation of kinase activity|downregulation of kinase activity|inhibition of kinase activity|kinase inhibitor|down-regulation of kinase activity HGNC:14291 NLGN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14291 HP:0005390 Recurrent opportunistic infections biolink:PhenotypicFeature mondo UMLS:C1832324 Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. http://purl.obolibrary.org/obo/HP_0005390 Frequent opportunistic infections ENVO:09200000 temperature of environmental material biolink:OntologyClass mondo The temperature of some environmental material. http://purl.obolibrary.org/obo/ENVO_09200000 environmental material temperature ENVO:09200001 temperature of air biolink:OntologyClass mondo The temperature of some air. http://purl.obolibrary.org/obo/ENVO_09200001 air temperature MONDO:0043543 iatrogenic disease biolink:Disease mondo MESH:D007049|ICD9:799.9|UMLS:C0020732|SCTID:12456005 Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. UMLS:C0020732|SNOMEDCT:12456005|MESH:D007049 http://purl.obolibrary.org/obo/MONDO_0043543 hospital-acquired conditions|iatrogenic disorder|iatrogenic diseases|conditions, hospital-acquired|condition, hospital-acquired|disease, iatrogenic|hospital acquired condition|diseases, iatrogenic|hospital-acquired condition ENVO:09200004 porosity of soil biolink:OntologyClass mondo The porosity of some soil. http://purl.obolibrary.org/obo/ENVO_09200004 soil porosity HGNC:26274 NARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26274 HP:0032973 Abnormal bronchoalveolar lavage fluid morphology biolink:PhenotypicFeature mondo Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. http://purl.obolibrary.org/obo/HP_0032973 MONDO:0043544 nosocomial infection biolink:Disease mondo SCTID:19168005|NCIT:C115164|UMLS:C0205721|MESH:D003428|EFO:1001299 An infection acquired in a hospital or other healthcare setting. NCIT:C115164|SNOMEDCT:19168005|UMLS:C0205721|MESH:D003428 http://purl.obolibrary.org/obo/MONDO_0043544 Cross infections|nosocomial infections|health care associated infections|infections, hospital|hospital infection|infections, Cross|Healthcare associated infection|associated infections, Healthcare|associated infection, Healthcare|nosocomial infection|infection, Cross|Healthcare-associated infection|infection, nosocomial|Healthcare associated infections|nosocomial infectious disease|hospital infections|infections, Healthcare associated|infections, nosocomial|health care associated infection|hospital-acquired infection|HAI|infection, Healthcare associated|hospital-onset infection|infection, hospital ENVO:09200008 composition of soil biolink:OntologyClass mondo The composition of some soil. http://purl.obolibrary.org/obo/ENVO_09200008 soil composition ENVO:09200009 structure of soil biolink:OntologyClass mondo The structure of some soil. http://purl.obolibrary.org/obo/ENVO_09200009 soil structure MONDO:0043541 viral conjunctivitis biolink:Disease mondo NCIT:C34509|UMLS:C0009774|MESH:D003236|SCTID:45261009 Conjunctivitis resulting from viral infection. MESH:D003236|SNOMEDCT:45261009|NCIT:C34509|UMLS:C0009774 http://purl.obolibrary.org/obo/MONDO_0043541 Viruses conjunctivitis (disease)|viral Conjunctivitides|viral conjunctivitis|Viruses caused conjunctivitis (disease)|Conjunctivitides, viral GO:0045619 regulation of lymphocyte differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/GO_0045619 regulation of lymphocyte development GO:0045617 negative regulation of keratinocyte differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation. http://purl.obolibrary.org/obo/GO_0045617 downregulation of keratinocyte differentiation|down regulation of keratinocyte differentiation|inhibition of keratinocyte differentiation|down-regulation of keratinocyte differentiation GO:0045618 positive regulation of keratinocyte differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. http://purl.obolibrary.org/obo/GO_0045618 up regulation of keratinocyte differentiation|stimulation of keratinocyte differentiation|up-regulation of keratinocyte differentiation|activation of keratinocyte differentiation|upregulation of keratinocyte differentiation GO:0045616 regulation of keratinocyte differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of keratinocyte differentiation. http://purl.obolibrary.org/obo/GO_0045616 HGNC:26270 PIEZO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26270 MONDO:0043537 cluster headache syndrome biolink:Disease mondo MESH:D003027|NCIT:C117077|EFO:0008571|SCTID:193031009 A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms. MESH:D003027|SNOMEDCT:193031009|NCIT:C117077 http://purl.obolibrary.org/obo/MONDO_0043537 neuralgic Migraines|chronic cluster headache|Neuralgias, ciliary|cluster headaches|ciliary Neuralgias|atypical cluster headaches|headache, chronic cluster|cluster headache, episodic|cluster headache, chronic|syndrome, Horton|Horton's syndrome|histamine Cephalgia|headache, atypical cluster|syndromes, cluster headache|horton's neuralgia|syndrome, cluster headache|Horton syndrome|syndrome, Horton's|cluster headache, atypical|vasomotor headache|migraine, neuralgic|headaches, chronic cluster|cluster headache syndromes|histamine Cephalgias|headache, cluster|cluster headaches, episodic|headaches, episodic cluster|atypical cluster headache|Hortons syndrome|ciliary neuralgia|migrainous neuralgia|Cephalgias, histamine|headache syndromes, cluster|headache syndrome, cluster|neuralgic migraine|histamine headache|Cephalgia, histamine|cluster headaches, chronic|chronic cluster headaches|histamine cephalgia|headaches, cluster|episodic cluster headaches|horton's headache|episodic cluster headache|cluster headaches, atypical|headache, episodic cluster|cluster headache|cluster headache syndrome|neuralgia, ciliary|headaches, atypical cluster|Migraines, neuralgic HP:0005387 Combined immunodeficiency biolink:PhenotypicFeature mondo UMLS:C0494261 A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. http://purl.obolibrary.org/obo/HP_0005387 HGNC:14294 SHANK3 biolink:OntologyClass mondo http://identifiers.org/hgnc/14294 HGNC:14295 SHANK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14295 ENVO:09200011 pressure of air biolink:OntologyClass mondo The pressure of some air. http://purl.obolibrary.org/obo/ENVO_09200011 air pressure ENVO:09200012 temperature of soil biolink:OntologyClass mondo The temperature of some soil. http://purl.obolibrary.org/obo/ENVO_09200012 soil temperature ENVO:09200013 wetness of soil biolink:OntologyClass mondo The wetness of some soil. http://purl.obolibrary.org/obo/ENVO_09200013 soil wetness ENVO:09200014 temperature of water biolink:OntologyClass mondo The temperature of some water. http://purl.obolibrary.org/obo/ENVO_09200014 water temperature ENVO:09200017 composition of water biolink:OntologyClass mondo The composition of some water. http://purl.obolibrary.org/obo/ENVO_09200017 water composition GO:0045620 negative regulation of lymphocyte differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/GO_0045620 inhibition of lymphocyte differentiation|negative regulation of lymphocyte development|down-regulation of lymphocyte differentiation|downregulation of lymphocyte differentiation|down regulation of lymphocyte differentiation MONDO:0043555 infantile diarrhea biolink:Disease mondo SCTID:39963006|MESH:D003968|UMLS:C0473132 Diarrhea occurring in infants from newborn to 24-months old. UMLS:C0473132|SNOMEDCT:39963006|MESH:D003968 http://purl.obolibrary.org/obo/MONDO_0043555 infantile diarrheal disease|Diarrheas, infantile|toddler diarrhea|infantile onset diarrheal disease|diarrheal disease of infancy|infantile Diarrheas|infantile diarrhea GO:0045621 positive regulation of lymphocyte differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/GO_0045621 upregulation of lymphocyte differentiation|positive regulation of lymphocyte development|up regulation of lymphocyte differentiation|stimulation of lymphocyte differentiation|up-regulation of lymphocyte differentiation|activation of lymphocyte differentiation MONDO:0043549 crush syndrome biolink:Disease mondo MESH:D003444|SCTID:23697004 A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle. SNOMEDCT:23697004|MESH:D003444 http://purl.obolibrary.org/obo/MONDO_0043549 crush syndromes|crush kidney|renal failure following crushing injury|syndrome, crush|syndromes, crush|bywaters' syndrome|acute renal failure due to rhabdomyolysis|ischemic muscular necrosis syndrome|myoglobinuric acute renal failure|crush syndrome|myoglobinuric nephrosis MONDO:0006659 arteriosclerosis obliterans biolink:Disease mondo DOID:5160|UMLS:C0003851|ICD9:440.8|SCTID:361133006|MedDRA:10065418|EFO:1000820|MESH:D001162 Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension. DOID:5160|SNOMEDCT:361133006|MESH:D001162|UMLS:C0003851 http://purl.obolibrary.org/obo/MONDO_0006659 arteriosclerosis obliterans (disorder) [ambiguous] MONDO:0006657 apparent mineralocorticoid excess syndrome biolink:Disease mondo DOID:4367|SCTID:237770005|MESH:D043204|EFO:1000817|UMLS:C0342488|ICD9:255.3|NCIT:C123231 An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. SNOMEDCT:237770005|DOID:4367|UMLS:C0342488|NCIT:C123231|MESH:D043204 http://purl.obolibrary.org/obo/MONDO_0006657 syndrome of apparent mineralocorticoid Excess MONDO:0006658 arteriolosclerosis biolink:Disease mondo NCIT:C35543|ICD10:I70|EFO:1000819|UMLS:C0878486|DOID:5162|MESH:D050379 The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia. NCIT:C35543|DOID:5162|UMLS:C0878486|MESH:D050379 http://purl.obolibrary.org/obo/MONDO_0006658 arteriolosclerosis (morphologic abnormality) MONDO:0006655 aortic valve prolapse biolink:Disease mondo DOID:5232|EFO:1000815|UMLS:C0003505|MESH:D001023|MedDRA:10057454 The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation. UMLS:C0003505|MESH:D001023|DOID:5232 http://purl.obolibrary.org/obo/MONDO_0006655 MONDO:0006656 aortitis biolink:Disease mondo NCIT:C97085|EFO:1000816|ICD10:I77.6|MedDRA:10002921|SCTID:70933002|DOID:519|UMLS:C0003509|MESH:D001025 Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders. DOID:519|SNOMEDCT:70933002|NCIT:C97085|UMLS:C0003509|MESH:D001025 http://purl.obolibrary.org/obo/MONDO_0006656 aorta inflammation|inflammation of aorta MONDO:0006653 anthracosilicosis biolink:Disease mondo CSP:2596-4484|DOID:10324|MedDRA:10050363|EFO:1000813|MESH:D000874|UMLS:C0003164|NCIT:C34389|SCTID:33548005|ICD10:J60 Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath. MESH:D000874|SNOMEDCT:33548005|DOID:10324|UMLS:C0003164|NCIT:C34389 http://purl.obolibrary.org/obo/MONDO_0006653 MONDO:0006654 anthracosis biolink:Disease mondo UMLS:C0003165|DOID:10327|ICD9:500|NCIT:C34390|SCTID:29422001|MESH:D055008|EFO:1000814|ICD10:J60|COHD:252946|MedDRA:10073051 A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners. SNOMEDCT:29422001|DOID:10327|UMLS:C0003165|MESH:D055008|NCIT:C34390 http://purl.obolibrary.org/obo/MONDO_0006654 pneumoconiosis from coal dust|black lung|coal workers' lung|melanoedema|coal dust pneumoconiosis|coal workers' pneumoconiosis|coal miner's pneumoconiosis MONDO:0006651 anterior uveitis (disease) biolink:Disease mondo MESH:D014606|UMLS:C0042165|SCTID:410692006|NCIT:C35109|ICD10:H20.2|CSP:1114-9593|ICD10:H20.1|MedDRA:10002709|Orphanet:280886|ICD10:H20.0|HP:0012122|GARD:0010941|EFO:1000811|DOID:1407|ICD10:H20.9|ICD10:H20.8 Inflammation of the iris and anterior chamber of the eye. DOID:1407|MEDDRA:10002709|ORPHA:280886|NCIT:C35109|MESH:D014606|UMLS:C0042165|SNOMEDCT:410692006 http://purl.obolibrary.org/obo/MONDO_0006651 anterior uveitis|iridocyclitis ordo_group_of_disorders MONDO:0006652 anterolateral myocardial infarction biolink:Disease mondo DOID:5845|UMLS:C0262564|MedDRA:10068109|EFO:1000812|MESH:D056988 Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. DOID:5845|UMLS:C0262564|MESH:D056988 http://purl.obolibrary.org/obo/MONDO_0006652 anteroseptal myocardial infarction|myocardial infarctions, anteroseptal|infarction, anterolateral myocardial|infarction, anteroseptal myocardial|myocardial infarction, anterior wall|acute anterior wall myocardial infarction|myocardial infarctions, anterolateral|infarctions, anterolateral myocardial|myocardial infarction, anteroseptal|myocardial infarction, anterolateral|anterolateral myocardial infarction|anterolateral myocardial infarctions|anteroseptal myocardial infarctions|infarctions, anteroseptal myocardial MONDO:0006650 anterior spinal artery syndrome biolink:Disease mondo DOID:6712|MESH:D020759|SCTID:2972007|UMLS:C0221069|ICD9:433.80|EFO:1000810|MedDRA:10002703 Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) UMLS:C0221069|SNOMEDCT:2972007|MESH:D020759|DOID:6712 http://purl.obolibrary.org/obo/MONDO_0006650 syndromic disease of anterior spinal artery|anterior spinal artery syndromic disease MONDO:0018649 cerebral visual impairment biolink:Disease mondo NCIT:C35275|Orphanet:447788|SCTID:413924001|UMLS:CN237707|ICD10:H47.6 A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information. SNOMEDCT:413924001|UMLS:CN237707|ORPHA:447788|NCIT:C35275 http://purl.obolibrary.org/obo/MONDO_0018649 cortical visual impairment|visual cortex disorder ordo_clinical_syndrome MONDO:0018646 sclerosing cholangitis (disease) biolink:Disease mondo NCIT:C4828|HP:0030991|UMLS:C0008313|EFO:0004268|DOID:14268|Orphanet:447771|SCTID:235917005|ICD10:K83.0 A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. DOID:14268|UMLS:C0008313|ORPHA:447771|NCIT:C4828|SNOMEDCT:235917005 http://purl.obolibrary.org/obo/MONDO_0018646 primary sclerosing cholangitis (PSC)|Primary sclerosing cholangitis|sclerosing cholangitis|Primary sclerosing cholangitis|fibrosing cholangitis ordo_group_of_disorders MONDO:0018645 IgG4-related sclerosing cholangitis biolink:Disease mondo SCTID:722870008|Orphanet:447764|UMLS:C4302109|ICD10:K83.0 UMLS:C4302109|ORPHA:447764|SNOMEDCT:722870008 http://purl.obolibrary.org/obo/MONDO_0018645 ordo_disease MONDO:0018648 Keratocystic odontogenic tumor biolink:Disease mondo UMLS:C1708604|Orphanet:447777|SCTID:713277006|ICD10:D16.4|NCIT:C54302|UMLS:CN237705 An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence. UMLS:C1708604|UMLS:CN237705|SNOMEDCT:713277006|ORPHA:447777|NCIT:C54302 http://purl.obolibrary.org/obo/MONDO_0018648 odontogenic keratocystoma|KTOC|odontogenic Keratocyst ordo_disease MONDO:0018647 secondary sclerosing cholangitis biolink:Disease mondo SCTID:197442005|ICD10:K83.0|Orphanet:447774|UMLS:C0400978 ORPHA:447774|SNOMEDCT:197442005|UMLS:C0400978 http://purl.obolibrary.org/obo/MONDO_0018647 ordo_disease MONDO:0018642 NIK deficiency biolink:Disease mondo ICD10:D81.8|Orphanet:447731 A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14). ORPHA:447731 http://purl.obolibrary.org/obo/MONDO_0018642 MAP3K14 non-severe combined immunodeficiency|non-severe combined immunodeficiency caused by mutation in MAP3K14|primary immunodeficiency with multifaceted aberrant lymphoid immunity ordo_disease MONDO:0018641 paroxysmal nocturnal hemoglobinuria biolink:Disease mondo Orphanet:447|OMIMPS:300818|MedDRA:10034042|SCTID:1963002|GARD:0007337|ICD10:D59.1|DOID:0060284|HGNC:8957|NCIT:C61233|UMLS:C0024790|UMLS:C0019050|ICD10:D59.5|HP:0004818|ICD10:D59.6 Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. UMLS:C0019050|NCIT:C61233|UMLS:C0024790|MESH:D006457|DOID:0060284|MEDDRA:10034042|ORPHA:447|SNOMEDCT:1963002 http://purl.obolibrary.org/obo/MONDO_0018641 Marchiafava-Micheli disease|PNH|paroxysmal hemoglobinuria ordo_disease|gard_rare MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B biolink:Disease mondo Orphanet:447757|ICD10:G11.4|UMLS:CN237702 UMLS:CN237702|ORPHA:447757 http://purl.obolibrary.org/obo/MONDO_0018644 AD-SPG9B ordo_clinical_subtype MONDO:0018643 susceptibility to localized juvenile periodontitis biolink:Disease mondo Orphanet:447740|ICD10:D71 ORPHA:447740 http://purl.obolibrary.org/obo/MONDO_0018643 ordo_disease|predisposition MONDO:0018640 secondary vasculitis biolink:Disease mondo Orphanet:445197 ORPHA:445197 http://purl.obolibrary.org/obo/MONDO_0018640 ordo_group_of_disorders MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma biolink:Disease mondo NCIT:C6186|UMLS:C1335752|DOID:6844 An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. DOID:6844|NCIT:C6186|UMLS:C1335752 http://purl.obolibrary.org/obo/MONDO_0004009 renal pelvis sarcomatoid transitional cell carcinoma|infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant|sarcomatoid transitional cell carcinoma of the kidney pelvis|sarcomatoid transitional cell carcinoma of kidney pelvis|kidney pelvis sarcomatoid transitional cell carcinoma|sarcomatoid transitional cell carcinoma of renal pelvis|sarcomatoid transitional cell carcinoma of the renal pelvis MONDO:0004008 flat ductal epithelial atypia biolink:Disease mondo NCIT:C36086|DOID:6841|UMLS:C1333620 A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia. UMLS:C1333620|DOID:6841|NCIT:C36086 http://purl.obolibrary.org/obo/MONDO_0004008 ductal intraepithelial neoplasia, grade 1A|flat epithelial atypia|flat ductal epithelial atypia of the breast|FEA|clinging carcinoma|flat ductal epithelial atypia|DIN 1A|flat epithelial atypia of the breast MONDO:0004005 rete ovarii adenoma biolink:Disease mondo NCIT:C40018|DOID:6837|UMLS:C1514905 An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign. UMLS:C1514905|NCIT:C40018|DOID:6837 http://purl.obolibrary.org/obo/MONDO_0004005 rete ovarii adenoma|adenoma, rete ovarii, benign MONDO:0006668 bacterial conjunctivitis biolink:Disease mondo DOID:9700|EFO:1000829|MESH:D003234|ICD10:H10.0|MedDRA:10061784|ICD9:372.03|UMLS:C0009768|SCTID:243321006|NCIT:C53656 Inflammation of the conjunctiva caused by a variety of bacterial agents. UMLS:C0009768|MESH:D003234|DOID:9700|SNOMEDCT:243321006|NCIT:C53656 http://purl.obolibrary.org/obo/MONDO_0006668 Bacteria caused conjunctival disease|purulent conjunctivitis|Bacteria conjunctival disease MONDO:0004004 motor nerve neuritis biolink:Disease mondo UMLS:C0235025|DOID:683 Inflammation of the peripheral motor nerves. DOID:683|UMLS:C0235025 http://purl.obolibrary.org/obo/MONDO_0004004 motor neuritis MONDO:0006669 bacterial endocarditis (disease) biolink:Disease mondo MedDRA:10004019|MESH:D004697|HP:0006689|SCTID:301183007|UMLS:C0014121|EFO:1000830|NCIT:C128359 Endocarditis that is caused by an infection with a bacterial agent. NCIT:C128359|MESH:D004697|UMLS:C0014121|SNOMEDCT:301183007 http://purl.obolibrary.org/obo/MONDO_0006669 bacterial endocarditis|Bacteria endocarditis (disease)|Bacteria caused endocarditis (disease) MONDO:0004007 breast intraductal proliferative lesion biolink:Disease mondo NCIT:C27942|DOID:6839|UMLS:C1334631 A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma. DOID:6839|NCIT:C27942|UMLS:C1334631 http://purl.obolibrary.org/obo/MONDO_0004007 ductal intraepithelial neoplasia|DIN|mammary intraepithelial neoplasia, ductal type|intraductal proliferative lesion|intraductal proliferative lesion of the breast MONDO:0006666 atrophy of thyroid biolink:Disease mondo ICD9:246.8|ICD10:E03.4|EFO:1000827|NCIT:C26942|MedDRA:10043693|SCTID:190309006|UMLS:C2981141 Tissue degeneration and diminished size of the thyroid gland. NCIT:C26942|SNOMEDCT:190309006|UMLS:C2981141 http://purl.obolibrary.org/obo/MONDO_0006666 thyroid gland atrophy|thyroid atrophy MONDO:0006667 obsolete B- and T-cell mixed leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006667 MONDO:0004006 rete ovarii cystadenofibroma biolink:Disease mondo NCIT:C40020|UMLS:C1514906|DOID:6838 An exceptionally rare cystadenofibroma that arises from the rete ovarii. DOID:6838|UMLS:C1514906|NCIT:C40020 http://purl.obolibrary.org/obo/MONDO_0004006 cystadenofibroma of rete ovarii|rete ovarii cystadenofibroma MONDO:0006664 atrial heart septal defect biolink:Disease mondo DOID:1882|EFO:1000825|SCTID:253366007|MedDRA:10068864|NCIT:C84473|MedDRA:10019308|Orphanet:1478|COHD:4289309|MedDRA:10003664|OMIMPS:108800|UMLS:C0018817|ICD10:Q21.1|MESH:D006344 Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart. MESH:D006344|MEDDRA:10003664|UMLS:C2609256|UMLS:C0018817|NCIT:C84473|DOID:1882|MEDDRA:10068864|SNOMEDCT:253366007|ORPHA:1478 http://purl.obolibrary.org/obo/MONDO_0006664 atrial septum defect|atrial septal defect|interatrial communication|interatrial septal defect|congenital atrial septal defect|auricular septal defect|interauricular communication|atrioseptal defect|ASD|interauricular septal defect ordo_morphological_anomaly MONDO:0004001 compartment syndrome biolink:Disease mondo ICD10:T79.A0|NCIT:C118422|UMLS:C0009492|ICD9:958.90|MESH:D003161|DOID:682|ICD9:958.8|GARD:0006141|SCTID:111245009|COHD:134734 Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space. MESH:D003161|NCIT:C118422|SNOMEDCT:111245009|UMLS:C0009492|DOID:682 http://purl.obolibrary.org/obo/MONDO_0004001 compartmental syndrome|compartment syndrome|compartmental syndrome, NOS gard_rare MONDO:0006665 chronic atrophic gastritis biolink:Disease mondo ICD10:K29.4|SCTID:84568007|ICD9:535.1|EFO:1000826|COHD:192667|ICD9:535.11|DOID:8929|MedDRA:10003685|ICD9:535.10|NCIT:C7405|MESH:D005757 Atrophic gastritis that is persistent and long-standing. NCIT:C7405|SNOMEDCT:84568007|MESH:D005757|DOID:8929 http://purl.obolibrary.org/obo/MONDO_0006665 gastric atrophy|Gastritides, atrophic|atrophic gastritis|atrophic Gastritides MONDO:0004000 childhood pilocytic astrocytoma biolink:Disease mondo UMLS:C1332995|NCIT:C4048|DOID:6812 A pilocytic astrocytoma that occurs during childhood. NCIT:C4048|DOID:6812|UMLS:C1332995 http://purl.obolibrary.org/obo/MONDO_0004000 pediatric pilocytic astrocytoma|pilocytic astrocytoma|pediatric pilocytic astrocytoma|childhood pilocytic astrocytoma|pilocytic astrocytoma of childhood MONDO:0006662 aseptic meningitis biolink:Disease mondo UMLS:C0025290|SCTID:301770000|MedDRA:10003458|EFO:1000823|DOID:12157|NCIT:C118299|ICD10:G03.0|MESH:D008582 Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen. DOID:12157|SNOMEDCT:301770000|NCIT:C118299|UMLS:C0025290|MESH:D008582 http://purl.obolibrary.org/obo/MONDO_0006662 aseptic meningitis|acute aseptic meningitis MONDO:0004003 obsolete pancreatic solid pseudopapillary carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004003 MONDO:0006663 asphyxia neonatorum biolink:Disease mondo Orphanet:137577|UMLS:C0004045|EFO:1000824|COHD:439136|DOID:11088|ICD9:768.9|NCIT:C116313|SCTID:28314004|ICD10:P84|GARD:0005857|MESH:D001238 Respiratory failure in the newborn. (Dorland, 27th ed) SNOMEDCT:28314004|DOID:11088|UMLS:C0004045|ORPHA:137577|MESH:D001238|NCIT:C116313 http://purl.obolibrary.org/obo/MONDO_0006663 postnatal asphyxia|fetal asphyxia|perinatal asphyxia|hypoxia neonatorum|birth asphyxia|neonatal hypoxic and ischemic brain injury|hypoxic-ischemic encephalopathy|hypoxic and ischemic brain injury in the newborn|asphyxia - birth|hie|Intrapartum asphyxia|asphyxia, in liveborn infant|birth depression|perinatal depression|perinatal hypoxia gard_rare MONDO:0004002 obsolete pancreatoblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004002 MONDO:0006660 arthus reaction biolink:Disease mondo ICD9:708.8|MedDRA:10003420|EFO:1000821|MESH:D001183|UMLS:C0003907|ICD9:995.21|ICD10:T78.41|SCTID:402413008|DOID:1556|NCIT:C34400 A localized vasculitis resulting from deposition of antibody-antigen complexes. DOID:1556|SNOMEDCT:402413008|MESH:D001183|UMLS:C0003907|NCIT:C34400 http://purl.obolibrary.org/obo/MONDO_0006660 arthus reaction (function)|arthus type urticaria|arthus phenomenon|arthus reaction MONDO:0006661 ascorbic acid deficiency biolink:Disease mondo MedDRA:10047623|ICD10:E54|COHD:439787|ICD9:267|EFO:1000822|MESH:D001206|SCTID:76169001 A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177) SNOMEDCT:76169001|MESH:D001206 http://purl.obolibrary.org/obo/MONDO_0006661 MONDO:0043606 obsolete pathologic fracture biolink:Disease mondo SCTID:268029009|NCIT:C3047|MESH:D005598 A traumatic break in an area of bone that has been weakened by another disease process. MESH:D005598|NCIT:C3047|SNOMEDCT:268029009 http://purl.obolibrary.org/obo/MONDO_0043606 spontaneous fracture|pathologic fractures|fracture, pathological|fractures, pathological|pathological fractures|pathologic fracture|spontaneous fractures|fracture, pathologic|fractures, pathologic|pathological fracture|fracture, spontaneous MONDO:0018639 caudal regression-sirenomelia spectrum biolink:Disease mondo Orphanet:444941 Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. ORPHA:444941 http://purl.obolibrary.org/obo/MONDO_0018639 ordo_group_of_disorders HP:0007957 Corneal opacity biolink:PhenotypicFeature mondo UMLS:C0521719|MSH:D003318|SNOMEDCT_US:413921009|SNOMEDCT_US:95735008|UMLS:C0010038|SNOMEDCT_US:64634000 A reduction of corneal clarity. http://purl.obolibrary.org/obo/HP_0007957 Corneal clouding|Scarring or clouding of the cornea of the eye|Corneal opacities|Reduction of corneal clarity hposlim_core MONDO:0018638 pseudohypoaldosteronism biolink:Disease mondo DOID:4479|MESH:D011546|ICD9:255.8|NCIT:C85034|Orphanet:444916|UMLS:C0033805|SCTID:77098009 An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. DOID:4479|SNOMEDCT:77098009|MESH:D011546|NCIT:C85034|UMLS:C0033805|ORPHA:444916 http://purl.obolibrary.org/obo/MONDO_0018638 ordo_group_of_disorders MONDO:0018635 idiopathic phalangeal acro-osteolysis biolink:Disease mondo Orphanet:444316|ICD10:M89.5 ORPHA:444316 http://purl.obolibrary.org/obo/MONDO_0018635 idiopathic phalangeal acroosteolysis ordo_disease MONDO:0018634 hereditary amyloidosis biolink:Disease mondo MESH:D028226|Orphanet:444116|GARD:0006611|NCIT:C84555|UMLS:C0206246|SCTID:367601000119103 Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. UMLS:C0206246|SNOMEDCT:367601000119103|ORPHA:444116|NCIT:C84555|MESH:D028226 http://purl.obolibrary.org/obo/MONDO_0018634 amyloidosis, Familial|amyloidosis hereditary|hereditary amyloidosis (disease)|familial amyloidosis ordo_group_of_disorders|gard_rare MONDO:0018637 familial chylomicronemia syndrome biolink:Disease mondo UMLS:CN231410|ICD10:E78.3|Orphanet:444490 ORPHA:444490|UMLS:CN231410 http://purl.obolibrary.org/obo/MONDO_0018637 ordo_disease MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome biolink:Disease mondo Orphanet:444463|ICD10:D61.0|UMLS:CN237691 UMLS:CN237691|ORPHA:444463 http://purl.obolibrary.org/obo/MONDO_0018636 TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|tripeptidyl-peptidase II deficiency|Evans syndrome associated with primary immunodeficiency|TPPII deficiency|triangle disease ordo_disease MONDO:0018631 Marie Unna hereditary hypotrichosis biolink:Disease mondo Orphanet:444|GARD:0003390|MESH:C535912|ICD10:Q84.0|UMLS:C2931059 Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. ORPHA:444|MESH:C535912|UMLS:C2931059 http://purl.obolibrary.org/obo/MONDO_0018631 Marie Unna congenital hypotrichosis|hypotrichosis, Marie Unna type|MUHH ordo_disease MONDO:0018630 hereditary nonpolyposis colon cancer biolink:Disease mondo NCIT:C120083|UMLS:CN237674|Orphanet:443909|OMIMPS:120435|SCTID:315058005 Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age. UMLS:CN237674|SNOMEDCT:315058005|ORPHA:443909|NCIT:C120083 http://purl.obolibrary.org/obo/MONDO_0018630 HNPCC|hereditary nonpolyposis colorectal cancer|colorectal cancer, hereditary nonpolyposis|familial nonpolyposis colon cancer|familial nonpolyposis colorectal cancer|Hereditary nonpolyposis colorectal cancer (HNPCC)|hereditary nonpolyposis colon cancer ordo_group_of_disorders|clingen MONDO:0018633 20q11.2 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|UMLS:CN237681|Orphanet:444051 20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported. UMLS:CN237681|ORPHA:444051 http://purl.obolibrary.org/obo/MONDO_0018633 Del(20)(q11.2)|monosomy 20q11 ordo_malformation_syndrome MONDO:0018632 11q22.2q22.3 microdeletion syndrome biolink:Disease mondo UMLS:CN237678|Orphanet:444002|ICD10:Q93.5 UMLS:CN237678|ORPHA:444002 http://purl.obolibrary.org/obo/MONDO_0018632 Del(11)(q22.2q22.3)|monosomy 11q22.2-q22.3|monosomy 11q22.2q22.3|11q22.2-q22.3 deletion syndrome ordo_malformation_syndrome MONDO:0006639 adrenal cortex carcinoma biolink:Disease mondo MedDRA:10001388|SCTID:255035007|DOID:3948|EFO:1000796|Orphanet:1501|UMLS:C0206686|NCIT:C9325|DOID:660|ICD10:C74.0|ONCOTREE:ACC|GARD:0000558|ICDO:8370/3|HP:0006744|DOID:3959 A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. SNOMEDCT:255035007|NCIT:C9325|ORPHA:1501|DOID:660|UMLS:C0206686|DOID:3959|DOID:3948|MESH:D018268|MEDDRA:10001388 http://purl.obolibrary.org/obo/MONDO_0006639 adrenal cortical carcinoma (morphologic abnormality)|ACC|adrenocortical carcinoma, NOS|malignant neoplasm of adrenal cortex|carcinoma of adrenal cortex|adrenocortical cancer|cancer of the adrenal cortex|adrenal cortex carcinoma|malignant tumour of adrenal cortex|adrenocortical carcinoma|adrenal cortex cancer|adenocarcinoma, adrenocortical, malignant|adrenal cortical carcinoma|adrenal cortical adenocarcinoma|neoplasm of adrenal cortex|malignant adrenocortical tumor|adrenal cortical tumors|cortical cell carcinoma|carcinoma, adrenocortical, malignant|adrenocortical carcinoma (disease)|carcinoma of the adrenal cortex|adrenal cortex adenocarcinoma ordo_disease MONDO:0006637 acute kidney tubular necrosis biolink:Disease mondo DOID:12556|ICD10:N17.0|EFO:1000794|HP:0008682|ICD9:584.5|MedDRA:10023441|SCTID:35455006|NCIT:C34749|MESH:D007683|COHD:444044|UMLS:C0022672 Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. SNOMEDCT:35455006|NCIT:C34749|MESH:D007683|DOID:12556|UMLS:C0022672 http://purl.obolibrary.org/obo/MONDO_0006637 acute renal failure with lesion of tubular necrosis|acute renal failure with tubular necrosis|ATN - acute tubular necrosis|acute tubule necrosis|acute tubular necrosis MONDO:0006638 acute retinal necrosis syndrome biolink:Disease mondo MESH:D015882|EFO:1000795|UMLS:C0035319|SCTID:231986000|DOID:3611 Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome. MESH:D015882|SNOMEDCT:231986000|DOID:3611|UMLS:C0035319 http://purl.obolibrary.org/obo/MONDO_0006638 acute retinal necrosis MONDO:0006635 Acinetobacter infectious disease biolink:Disease mondo MESH:D000151|EFO:1000792|UMLS:C0001139 Infections with bacteria of the genus acinetobacter. UMLS:C0001139|MESH:D000151 http://purl.obolibrary.org/obo/MONDO_0006635 Mimae infections|Acinetobacter infection|Mimae infection|Acinetobacter disease or disorder|Acinetobacter caused disease or disorder|infections, Acinetobacter|infections, Mimae|infection, Acinetobacter|infection, Mimae NCBITaxon:1593277 Onygenales incertae sedis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1593277 MONDO:0006636 Actinobacillus infectious disease biolink:Disease mondo EFO:1000793|MESH:D000189 Infections with bacteria of the genus actinobacillus. MESH:D000189 http://purl.obolibrary.org/obo/MONDO_0006636 Actinobacillus disease or disorder|infections, Actinobacillus|Actinobacillus infection|Actinobacillus caused disease or disorder|infection, Actinobacillus MONDO:0006633 acalculous cholecystitis biolink:Disease mondo UMLS:C0267841|MESH:D042101|NCIT:C35578|DOID:2828|EFO:1000790|SCTID:19968009|MedDRA:10000347|UMLS:C0267842 Inflammation of the gallbladder in the absence of gallstones. MESH:D042101|NCIT:C35578|UMLS:C0267841|UMLS:C0267842|SNOMEDCT:19968009|DOID:2828 http://purl.obolibrary.org/obo/MONDO_0006633 acute acalculous cholecystitis|acute cholecystitis without calculus|cholecystitis without calculus MONDO:0006634 pituitary gland acidophil adenoma biolink:Disease mondo EFO:1000791|UMLS:C0001433|NCIT:C6780|MESH:D000239|DOID:5392|ICDO:8280/0 An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes. DOID:5392|UMLS:C0001433|MESH:D000239|NCIT:C6780 http://purl.obolibrary.org/obo/MONDO_0006634 pituitary gland acidophil adenoma|acidophil adenoma|eosinophil adenoma MONDO:0006631 osteoarthritis, toe biolink:Disease mondo EFO:1000788 Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle. http://purl.obolibrary.org/obo/MONDO_0006631 MONDO:0006632 osteoarthritis, hand biolink:Disease mondo EFO:1000789 Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children). http://purl.obolibrary.org/obo/MONDO_0006632 MONDO:0006630 osteoarthritis, spine biolink:Disease mondo SCTID:8847002|MESH:D055013|EFO:1000787 A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte). SNOMEDCT:8847002|MESH:D055013 http://purl.obolibrary.org/obo/MONDO_0006630 MONDO:0018628 HIV-associated cancer biolink:Disease mondo Orphanet:443291|UMLS:CN237671 UMLS:CN237671|ORPHA:443291 http://purl.obolibrary.org/obo/MONDO_0018628 HIV-related cancer ordo_clinical_situation ECTO:9001755 antimicrobial drug exposure biolink:OntologyClass mondo An exposure to antimicrobial drug. http://purl.obolibrary.org/obo/ECTO_9001755 exposure to antimicrobial drug MONDO:0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor biolink:Disease mondo Orphanet:443287|UMLS:CN237670 UMLS:CN237670|ORPHA:443287 http://purl.obolibrary.org/obo/MONDO_0018627 ordo_group_of_disorders ECTO:9001757 antibacterial drug exposure biolink:OntologyClass mondo An exposure to antibacterial drug. http://purl.obolibrary.org/obo/ECTO_9001757 exposure to antibacterial drug MONDO:0018629 focal stiff limb syndrome biolink:Disease mondo Orphanet:443804|UMLS:CN237672|ICD10:G25.8 ORPHA:443804|UMLS:CN237672 http://purl.obolibrary.org/obo/MONDO_0018629 focal stiff-person syndrome|Stiff leg syndrome ordo_clinical_subtype MONDO:0018624 spontaneous intracranial hypotension biolink:Disease mondo Orphanet:443180|UMLS:CN237665|ICD10:G96.0 UMLS:CN237665|ORPHA:443180 http://purl.obolibrary.org/obo/MONDO_0018624 spontaneous cerebrospinal fluid leak ordo_disease MONDO:0018623 postpartum psychosis biolink:Disease mondo SCTID:18260003|ICD10:F53|ICD10:F53.1|ICD9:648.44|Orphanet:443173 Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly. SNOMEDCT:18260003|ORPHA:443173 http://purl.obolibrary.org/obo/MONDO_0018623 puerperal psychosis ordo_disease MONDO:0018626 paratyphoid fever biolink:Disease mondo MESH:D010284|UMLS:C0343377|UMLS:C0343376|ICD9:002.9|UMLS:C0343375|ICD9:002.3|Orphanet:443227|ICD10:A01.4|ICD10:A01.3|ICD10:A01.2|ICD10:A01.1|ICD9:002.2|ICD9:002.1|DOID:3055|UMLS:C0030528|EFO:0007420|SCTID:51254007|NCIT:C34897 A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi. UMLS:C0030528|UMLS:C0343375|UMLS:C0343376|UMLS:C0343377|DOID:3055|NCIT:C34897|MESH:D010284|SNOMEDCT:51254007|ORPHA:443227 http://purl.obolibrary.org/obo/MONDO_0018626 paratyphoid fever C|paratyphoid fever B|paratyphoid fever A|paratyphoid C fever|paratyphoid B fever|paratyphoid A fever|paratyphoid c|paratyphoid b|paratyphoid a|paratyphoid ordo_disease MONDO:0018625 classic stiff person syndrome biolink:Disease mondo Orphanet:443192|UMLS:CN237666|ICD10:G25.8 UMLS:CN237666|ORPHA:443192 http://purl.obolibrary.org/obo/MONDO_0018625 classic SPS ordo_clinical_subtype NCBITaxon:33634 Stramenopiles organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33634 Chromophyta|Heterokonta|heterokonts|Straminipila MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome biolink:Disease mondo Orphanet:443101|UMLS:CN237660|ICD10:E23.3 UMLS:CN237660|ORPHA:443101 http://purl.obolibrary.org/obo/MONDO_0018620 ordo_disease HGNC:14376 ACP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/14376 MONDO:0018622 obsolete nut midline carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018622 HGNC:14377 NHP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14377 MONDO:0018621 lymphoplasmacytic lymphoma without IgM production biolink:Disease mondo Orphanet:443159|ICD10:C83.0 ORPHA:443159 http://purl.obolibrary.org/obo/MONDO_0018621 lymphoplasmacytic lymphoma without Immunoglobulin M production ordo_disease HGNC:14378 NOP10 biolink:OntologyClass mondo http://identifiers.org/hgnc/14378 NCBITaxon:33630 Alveolata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33630 alveolates ECTO:9001751 antiprotozoal drug exposure biolink:OntologyClass mondo An exposure to antiprotozoal drug. http://purl.obolibrary.org/obo/ECTO_9001751 exposure to antiprotozoal drug HGNC:14372 SCYL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14372 HGNC:14373 GLMN biolink:OntologyClass mondo http://identifiers.org/hgnc/14373 HGNC:14374 NLRP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14374 UBERON:0015482 right hepatic artery biolink:AnatomicalEntity mondo A hepatic artery that is part of a right lobe of liver. http://purl.obolibrary.org/obo/UBERON_0015482 right branch of hepatic artery proper|right part of hepatic artery proper|ramus dexter (arteria hepatica propria) MONDO:0006648 anterior compartment syndrome biolink:Disease mondo ICD10:M76.81|EFO:1000808|MESH:D000868|DOID:3933|UMLS:C0003152|SCTID:12694001 Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion. SNOMEDCT:12694001|MESH:D000868|DOID:3933|UMLS:C0003152 http://purl.obolibrary.org/obo/MONDO_0006648 anterior compartment syndrome UBERON:0015485 choledocho-duodenal junction biolink:AnatomicalEntity mondo hat part of the duodenal wall traversed by the ductus choledochus, ductus pancreaticus, and ampulla. http://purl.obolibrary.org/obo/UBERON_0015485 choledochoduodenal junction MONDO:0006649 anterior ischemic optic neuropathy biolink:Disease mondo SCTID:404659001|UMLS:C0155305|GARD:0009790|COHD:373487|EFO:1000809|ICD10:H47.01|MESH:D018917|ICD9:377.41|DOID:12010|MedDRA:10068250 Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. SNOMEDCT:404659001|DOID:12010|UMLS:C0155305|MESH:D018917 http://purl.obolibrary.org/obo/MONDO_0006649 optic disc infarction leading to vision loss|aion|ischemic optic neuropathy gard_rare MONDO:0006646 angioleiomyoma biolink:Disease mondo UMLS:C0206653|ICDO:8894/0|NCIT:C3747|DOID:4265|EFO:1000806|EFO:1000084|MESH:D018229 A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels. DOID:4265|UMLS:C0206653|MESH:D018229|NCIT:C3747 http://purl.obolibrary.org/obo/MONDO_0006646 angiomyoma (morphologic abnormality)|angiomyoma|vascular leiomyoma|angioleiomyoma MONDO:0006647 anterior cerebral artery infarction biolink:Disease mondo MESH:D020243|UMLS:C0751843|EFO:1000807|DOID:3528 Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body. UMLS:C0751843|DOID:3528|MESH:D020243 http://purl.obolibrary.org/obo/MONDO_0006647 MONDO:0006644 alcoholic liver cirrhosis biolink:Disease mondo SCTID:419728003|MedDRA:10001618|UMLS:C0023891|CSP:1754-7677|COHD:196463|ICD9:571.2|EFO:1000802|DOID:14018|ICD10:K70.3|NCIT:C34782|UMLS:C1622502|MESH:D008104 A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. DOID:14018|MESH:D008104|NCIT:C34782|SNOMEDCT:419728003|UMLS:C0023891|UMLS:C1622502 http://purl.obolibrary.org/obo/MONDO_0006644 portal cirrhosis|alcoholic cirrhosis of liver|alcoholic cirrhosis|Laennec's cirrhosis|Laennec's cirrhosis, alcoholic UBERON:0015481 left hepatic artery biolink:AnatomicalEntity mondo A hepatic artery that is part of a left lobe of liver. http://purl.obolibrary.org/obo/UBERON_0015481 ramus sinister (arteria hepatica propria)|left branch of hepatic artery|left part of hepatic artery proper MONDO:0006645 alcoholic polyneuropathy biolink:Disease mondo ICD9:357.5|NCIT:C26926|DOID:14183|UMLS:C0085677|COHD:378421|EFO:1000803|MESH:D020269|SCTID:7916009|ICD10:G62.1 Any disease affecting more than one nerve. UMLS:C0085677|DOID:14183|MESH:D020269|NCIT:C26926|SNOMEDCT:7916009 http://purl.obolibrary.org/obo/MONDO_0006645 alcoholic neuropathy|alcohol-related polyneuropathy MONDO:0006642 alcohol withdrawal delirium biolink:Disease mondo SCTID:8635005|MESH:D000430|COHD:377830|MedDRA:10001610|ICD9:291.0|EFO:1000800 An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175) MESH:D000430|SNOMEDCT:8635005 http://purl.obolibrary.org/obo/MONDO_0006642 delirium Tremens|alcohol withdrawal-induced delirium Tremens|autonomic hyperactivity, alcohol withdrawal associated|hallucinosis, alcohol withdrawal|delirium, alcohol withdrawal|delirium Tremens, alcohol withdrawal induced|alcohol withdrawal hallucinosis|alcohol withdrawal associated autonomic hyperactivity|alcohol withdrawal induced delirium Tremens MONDO:0006643 alcoholic cardiomyopathy biolink:Disease mondo SCTID:83521008|MedDRA:10001616|MESH:D002310|DOID:12935|UMLS:C0007192|EFO:1000801|ICD10:I42.6|NCIT:C53653|ICD9:425.5 A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years. UMLS:C0007192|DOID:12935|MESH:D002310|NCIT:C53653|SNOMEDCT:83521008 http://purl.obolibrary.org/obo/MONDO_0006643 alcoholic cardiomyopathy|alcohol-induced heart muscle disease|dilated cardiomyopathy secondary to alcohol MONDO:0006640 adrenal gland hyperfunction biolink:Disease mondo DOID:3947|MESH:D000308|HP:0003118|UMLS:CN205287|SCTID:275437005|ICD9:255.3|UMLS:C0001622|EFO:1000797|GARD:0008252 Excess production of adrenal cortex hormones. MESH:D000308|DOID:3947|NCIT:C113208|UMLS:CN205287|SNOMEDCT:275437005|UMLS:C0001622 http://purl.obolibrary.org/obo/MONDO_0006640 hyperadrenalism|hyperfunction, adrenocortical|hypercorticism|disorder of corticoadrenal overactivity|hyperfunction, adrenal gland|adrenal gland hyperfunction|hyperadrenalism|hypercortisolism|hyperadrenocorticism|hypercortisolemia|adrenocortical hyperfunction MONDO:0006641 afferent loop syndrome biolink:Disease mondo MESH:D000343|ICD9:537.89|DOID:8438|MedDRA:10056245|SCTID:20813000|EFO:1000799|UMLS:C0001727 A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid. UMLS:C0001727|MESH:D000343|SNOMEDCT:20813000|DOID:8438 http://purl.obolibrary.org/obo/MONDO_0006641 HGNC:26361 HEPACAM biolink:OntologyClass mondo http://identifiers.org/hgnc/26361 MONDO:0018609 syndromic hereditary optic neuropathy biolink:Disease mondo UMLS:CN237645|Orphanet:441434 A hereditary optic neuropathy that is part of a larger syndrome. ORPHA:441434|UMLS:CN237645 http://purl.obolibrary.org/obo/MONDO_0018609 syndrome associated with hereditary optic neuropathy|syndromic hereditary optic neuropathy|syndrome associated with hereditary optic neuropathy ordo_group_of_disorders MONDO:0018617 baroreflex failure biolink:Disease mondo Orphanet:443084|GARD:0010664|UMLS:CN237655|ICD10:G90.4 Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques. UMLS:CN237655|ORPHA:443084 http://purl.obolibrary.org/obo/MONDO_0018617 gard_rare|ordo_clinical_syndrome MONDO:0018616 central serous chorioretinopathy biolink:Disease mondo ICD9:362.41|UMLS:C0730328|NCIT:C115124|COHD:372894|ICD10:H35.7|GARD:0000200|Orphanet:443079|SCTID:312956001|MESH:D056833 Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals. UMLS:C0730328|MESH:D056833|SNOMEDCT:312956001|NCIT:C115124|ORPHA:443079 http://purl.obolibrary.org/obo/MONDO_0018616 CSC|central serous chorioretinopathy after bone marrow transplantation|central serous retinopathy|CSCR|central serous choroidopathy ordo_disease|gard_rare MONDO:0018619 hyperinsulinemic hypoglycaemia biolink:Disease mondo Orphanet:443095|OMIMPS:256450 ORPHA:443095 http://purl.obolibrary.org/obo/MONDO_0018619 hyperinsulinemia hypoglycemia ordo_group_of_disorders MONDO:0018618 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect biolink:Disease mondo Orphanet:443090 ORPHA:443090 http://purl.obolibrary.org/obo/MONDO_0018618 ordo_group_of_disorders MONDO:0018613 AH amyloidosis biolink:Disease mondo ICD10:E85.9|Orphanet:442582 ORPHA:442582 http://purl.obolibrary.org/obo/MONDO_0018613 heavy chain amyloidosis ordo_disease MONDO:0018612 congenital hypothyroidism biolink:Disease mondo ICD10:E03.1|DOID:0050328|ICD9:243|ICD10:E00.9|GARD:0001487|ICD10:E00.1|ICD9:269.3|ICD9:759.89|SCTID:190268003|NCIT:C26734|UMLS:C0010308|ICD10:E03.0|ICD10:E00.2|ICD10:E00.0|Orphanet:442|MedDRA:10010510|SCTID:217710005|MESH:D003409 Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth. MEDDRA:10010510|ORPHA:442|DOID:0050328|SNOMEDCT:190268003|UMLS:C0010308|NCIT:C98921|SNOMEDCT:217710005|NCIT:C26734|MESH:D003409 http://purl.obolibrary.org/obo/MONDO_0018612 infantile hypothyroidism|fetal iodine deficiency syndrome|congenital hypothyroidism not due to iodine deficiency|cretinism|congenital hypothyroidism|congenital goiter|congenital iodine deficiency syndrome ordo_group_of_disorders MONDO:0018615 hemicrania continua biolink:Disease mondo ICD10:G44.0|SCTID:443095000|COHD:40480082|Orphanet:443070|UMLS:C2349425|GARD:0010795|ICD10:G44.51|UMLS:CN237652|ICD9:339.41 Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied. UMLS:CN237652|SNOMEDCT:443095000|UMLS:C2349425|ORPHA:443070 http://purl.obolibrary.org/obo/MONDO_0018615 ordo_disease|gard_rare MONDO:0018614 undetermined early-onset epileptic encephalopathy biolink:Disease mondo ICD10:G40.4|Orphanet:442835 ORPHA:442835 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined EOEE ordo_disease HP:0032943 Abnormal urine pH biolink:PhenotypicFeature mondo A deviation of urine pH from the normal range of 4.5 to 7.8. http://purl.obolibrary.org/obo/HP_0032943 MONDO:0018611 early-onset lamellar cataract biolink:Disease mondo UMLS:CN237647|Orphanet:441452 ORPHA:441452|UMLS:CN237647 http://purl.obolibrary.org/obo/MONDO_0018611 ordo_clinical_subtype HGNC:14388 GP6 biolink:OntologyClass mondo http://identifiers.org/hgnc/14388 MONDO:0018610 early-onset posterior subcapsular cataract biolink:Disease mondo Orphanet:441447|UMLS:CN237646|ICD10:H26.0 ORPHA:441447|UMLS:CN237646 http://purl.obolibrary.org/obo/MONDO_0018610 ordo_clinical_subtype MONDO:0018680 cutaneous pseudolymphoma biolink:Disease mondo UMLS:C0311220|ICD10:L98.6|SCTID:128862000|NCIT:C62776|Orphanet:451607 A pseudolymphoma of the skin. SNOMEDCT:128862000|NCIT:C62776|ORPHA:451607|UMLS:C0311220 http://purl.obolibrary.org/obo/MONDO_0018680 pseudolymphoma of Spiegler|lymphadenosis Benigna cutis|lymphocytoma cutis ordo_disease MONDO:0004038 dental enamel hypoplasia biolink:Disease mondo UMLS:C0011351|NCIT:C34529|SCTID:26597004|DOID:693|EFO:1001304|MESH:D003744 Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. MESH:D003744|SNOMEDCT:26597004|NCIT:C34529|DOID:693|UMLS:C0011351 http://purl.obolibrary.org/obo/MONDO_0004038 enamel hypoplasia MONDO:0004037 retinal edema biolink:Disease mondo SCTID:6141006|COHD:372903|DOID:6929|ICD10:H35.81|ICD9:362.83 SNOMEDCT:6141006|DOID:6929 http://purl.obolibrary.org/obo/MONDO_0004037 MONDO:0006699 choledocholithiasis biolink:Disease mondo DOID:11755|EFO:1000865|MESH:D042883|MedDRA:10049891|UMLS:C0701818 Presence or formation of gallstones in the common bile duct. DOID:11755|UMLS:C0701818|MESH:D042883 http://purl.obolibrary.org/obo/MONDO_0006699 MONDO:0004039 papillary extrahepatic bile duct adenocarcinoma biolink:Disease mondo DOID:6931 DOID:6931 http://purl.obolibrary.org/obo/MONDO_0004039 MONDO:0004034 eye lymphoma biolink:Disease mondo NCIT:C35690|UMLS:C1333519|DOID:6903 A lymphoma that involves the eye. UMLS:C1333519|NCIT:C35690|DOID:6903 http://purl.obolibrary.org/obo/MONDO_0004034 primary eye lymphoma|eye lymphoma|eyeball of camera-type eye lymphoma|lymphoma of eyeball of camera-type eye MONDO:0006697 obsolete Chlamydophila infectious disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006697 MONDO:0006698 cholecystolithiasis biolink:Disease mondo EFO:1000864|UMLS:C0947622|MedDRA:10049890|MESH:D041761|DOID:11151 Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity. DOID:11151|UMLS:C0947622|NCIT:C34443|MESH:D041761 http://purl.obolibrary.org/obo/MONDO_0006698 MONDO:0004033 familial ovarian carcinoma biolink:Disease mondo UMLS:C1333992|NCIT:C36102|DOID:6901 Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma. NCIT:C36102|DOID:6901|UMLS:C1333992 http://purl.obolibrary.org/obo/MONDO_0004033 familial ovarian carcinoma|familiar ovarian carcinoma|hereditary ovarian cancer|hereditary ovarian carcinoma MONDO:0004036 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004036 MONDO:0006695 obsolete cervical rib syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006695 MONDO:0006696 cervix erosion biolink:Disease mondo DOID:3456|EFO:1000862|MESH:D002579|SCTID:61253004|MedDRA:10015128|UMLS:C0007869 Loss or destruction of the epithelial lining of the uterine cervix. SNOMEDCT:61253004|MESH:D002579|DOID:3456|UMLS:C0007869 http://purl.obolibrary.org/obo/MONDO_0006696 erosion of cervix MONDO:0004035 glomangiomatosis biolink:Disease mondo NCIT:C27496|DOID:6906|UMLS:C1333824 A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces. NCIT:C27496|UMLS:C1333824|DOID:6906 http://purl.obolibrary.org/obo/MONDO_0004035 MONDO:0004030 ureter transitional cell carcinoma biolink:Disease mondo SCTID:300988009|EFO:1001973|UMLS:C0577692|DOID:6888|NCIT:C4830 A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria. NCIT:C4830|DOID:6888|SNOMEDCT:300988009|UMLS:C0577692 http://purl.obolibrary.org/obo/MONDO_0004030 ureter transitional cell carcinoma|ureteral urothelial cell carcinoma|ureter urothelial carcinoma|urothelial cell carcinoma of ureter|urothelial cell carcinoma of the ureter|ureteral transitional cell carcinoma|transitional cell carcinoma of ureter|ureter urothelial cancer|transitional cell carcinoma of the ureter MONDO:0006693 cerebral arterial disease biolink:Disease mondo MESH:D002539|DOID:3527|EFO:1000859|UMLS:C0007774 Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery. MESH:D002539|DOID:3527|UMLS:C0007774 http://purl.obolibrary.org/obo/MONDO_0006693 MONDO:0006694 cerebral atherosclerosis biolink:Disease mondo UMLS:C0007775|NCIT:C34459|ICD9:437.0|ICD10:I67.2|DOID:12720|EFO:1000860|SCTID:55382008|MedDRA:1008095|COHD:316437 Atherosclerosis of the cerebral vasculature. NCIT:C34459|SNOMEDCT:55382008|UMLS:C0007775|DOID:12720 http://purl.obolibrary.org/obo/MONDO_0006694 cerebral atherosclerosis HGNC:28991 RUBCN biolink:OntologyClass mondo http://identifiers.org/hgnc/28991 MONDO:0004032 ovarian seromucinous carcinoma biolink:Disease mondo EFO:1000358|NCIT:C40090|DOID:6899|ONCOTREE:OSMCA|UMLS:C1518232 A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium. NCIT:C40090|DOID:6899|UMLS:C1518232 http://purl.obolibrary.org/obo/MONDO_0004032 mixed epithelial carcinoma of the ovary|mixed epithelial carcinoma of ovary|malignant ovarian mixed epithelial neoplasm|malignant ovarian mixed epithelial tumor|ovarian mixed epithelial carcinoma|ovarian Seromucinous carcinoma MONDO:0006691 obsolete causalgia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006691 MONDO:0006692 central pontine myelinolysis biolink:Disease mondo ICD10:G37.2|MESH:D017590|SCTID:6807001|UMLS:C0206083|GARD:0008749|DOID:636|NCIT:C84623|ICD9:341.8|EFO:1000857|MedDRA:10007968 A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly. NCIT:C84623|SNOMEDCT:6807001|UMLS:C0206083|DOID:636|MESH:D017590 http://purl.obolibrary.org/obo/MONDO_0006692 osmotic demyelination syndrome MONDO:0004031 ovary mixed epithelial carcinoma biolink:Disease mondo DOID:6898|ONCOTREE:MXOV DOID:6898 http://purl.obolibrary.org/obo/MONDO_0004031 mixed epithelial carcinoma of ovary|mixed ovarian carcinoma HGNC:28993 PIEZO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/28993 MONDO:0006690 carotid artery thrombosis biolink:Disease mondo SCTID:86003009|EFO:1000853|ICD9:433.10|UMLS:C0007274|MESH:D002341|DOID:3410|MedDRA:10007688 Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax. MESH:D002341|UMLS:C0007274|DOID:3410|SNOMEDCT:86003009 http://purl.obolibrary.org/obo/MONDO_0006690 carotid artery thrombosis MONDO:0016027 benign neonatal seizures biolink:Disease mondo MedDRA:10067866|NCIT:C117307|OMIMPS:121200|DOID:14264|Orphanet:1949|ICD10:G40.3|SCTID:38281008 Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. UMLS:C0220669|SNOMEDCT:38281008|MEDDRA:10067866|UMLS:C2930911|MESH:D020936|NCIT:C117307|DOID:14264|ORPHA:1949|MESH:C535466 http://purl.obolibrary.org/obo/MONDO_0016027 benign familial convulsion|benign neonatal convulsions|benign familial neonatal seizures|seizures, benign familial neonatal|benign Familal neonatal seizures|BFNS|benign familial convulsions|benign familial neonatal convulsions ordo_disease HGNC:14357 MMP21 biolink:OntologyClass mondo http://identifiers.org/hgnc/14357 MONDO:0018689 plasma cell leukemia biolink:Disease mondo COHD:133154|ICDO:9733/3|EFO:0006475|SCTID:95210003|Orphanet:454714|ICD10:C90.10|ICD9:203.10|GARD:0009373|ICD10:C90.1|MESH:D007952|ICD9:203.1|NCIT:C3180|DOID:9513|UMLS:C0023484 An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. DOID:9513|NCIT:C3180|ORPHA:454714|SNOMEDCT:95210003|UMLS:C0023484|MESH:D007952 http://purl.obolibrary.org/obo/MONDO_0018689 leukemia plasmacytic|leukemia, plasma cell|plasma cell leukemia|PCL|plasmacytic leukemia ordo_disease|gard_rare MONDO:0016028 erythromelalgia biolink:Disease mondo SCTID:37151006|ICD10:I73.8|NCIT:C34593|MESH:D004916|ICD10:I73.81|Orphanet:1956|COHD:134380|UMLS:C0014804|DOID:9240|MedDRA:10015284|ICD9:443.82 Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. MEDDRA:10015284|DOID:9240|MESH:D004916|UMLS:C0014804|NCIT:C34593|ORPHA:1956|SNOMEDCT:37151006 http://purl.obolibrary.org/obo/MONDO_0016028 ordo_disease MONDO:0016029 esthesioneuroblastoma biolink:Disease mondo Orphanet:1957|ICD10:C30.0|SCTID:422886007|GARD:0002197 Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases. SNOMEDCT:422886007|ORPHA:1957 http://purl.obolibrary.org/obo/MONDO_0016029 olfactory neuroblastoma ordo_disease MONDO:0018686 acquired Creutzfeldt-Jakob disease biolink:Disease mondo MESH:C538481|Orphanet:454700|UMLS:CN237752|ICD10:A81.0 An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual. MESH:C538481|ORPHA:454700|UMLS:CN237752 http://purl.obolibrary.org/obo/MONDO_0018686 acquired CJD|sporadic CJD|acquired Creutzfeldt Jacob disease ordo_disease MONDO:0016023 obsolete ocular coloboma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016023 MONDO:0016024 shoulder and thorax deformity-congenital heart disease syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:1940 ORPHA:1940 http://purl.obolibrary.org/obo/MONDO_0016024 ordo_malformation_syndrome MONDO:0018685 incessant infant ventricular tachycardia biolink:Disease mondo ICD10:I47.2|SCTID:233908008|Orphanet:45453|UMLS:C0340487 Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure. ORPHA:45453|SNOMEDCT:233908008|UMLS:C0340487 http://purl.obolibrary.org/obo/MONDO_0018685 ordo_disease MONDO:0018688 anti-p200 pemphigoid biolink:Disease mondo ICD10:L12.8|EFO:0008597|Orphanet:454710|UMLS:CN237754 ORPHA:454710|UMLS:CN237754 http://purl.obolibrary.org/obo/MONDO_0018688 ordo_disease MONDO:0016025 myoclonic-astastic epilepsy biolink:Disease mondo ICD10:G40.4|Orphanet:1942|SCTID:230421008|ICD9:345.10|GARD:0002169 Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children. SNOMEDCT:230421008|ORPHA:1942 http://purl.obolibrary.org/obo/MONDO_0016025 epilepsy with myoclonic-atonic seizures|epilepsy with myoclonic-astatic seizures|mae|myoclonic astatic epilepsy|myoclonic-astatic epilepsy in early childhood|Doose syndrome|myoclonic atonic epilepsy|epilepsy with myoclono-astatic crisis|EMAS gard_rare|ordo_disease MONDO:0018687 progressive muscular atrophy biolink:Disease mondo Orphanet:454706|ICD10:G12.2|ICD9:335.21|SCTID:88923002|COHD:376679|UMLS:C0917981|DOID:318|NCIT:C85027|ICD10:G12.21|EFO:0008864 A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation. SNOMEDCT:88923002|ORPHA:454706|DOID:318|UMLS:C0917981|NCIT:C85027 http://purl.obolibrary.org/obo/MONDO_0018687 pure progressive muscular atrophy|PMA|progressive spinal muscular atrophy ordo_disease MONDO:0016026 infant epilepsy with migrant focal crisis biolink:Disease mondo UMLS:C4510564|ICD10:G40.4|Orphanet:1943|SCTID:724274009|GARD:0002995 Infant epilepsy with migrant focal crisis is characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown. UMLS:C4510564|SNOMEDCT:724274009|ORPHA:1943 http://purl.obolibrary.org/obo/MONDO_0016026 gard_rare|ordo_disease MONDO:0018682 congenital insensitivity to pain with severe intellectual disability biolink:Disease mondo Orphanet:453510 ORPHA:453510 http://purl.obolibrary.org/obo/MONDO_0018682 congenital absence of pain with severe intellectual disability|congenital insensitivity to pain with preserved temperature sensation|congenital analgesia with severe intellectual disability|congenital insensitivity to pain with severe non-progressive cognitive delay ordo_disease MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome biolink:Disease mondo UMLS:CN237747|Orphanet:453499 ORPHA:453499|UMLS:CN237747 http://purl.obolibrary.org/obo/MONDO_0018681 clingen|ordo_malformation_syndrome MONDO:0016020 frontal encephalocele biolink:Disease mondo Orphanet:1931|SCTID:253103006|ICD10:Q01.0 ORPHA:1931|SNOMEDCT:253103006 http://purl.obolibrary.org/obo/MONDO_0016020 anterior encephalocele ordo_clinical_subtype MONDO:0018684 idiopathic neonatal atrial flutter biolink:Disease mondo Orphanet:45452|SCTID:715560009|UMLS:CN205105|ICD10:P29.1 Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops. ORPHA:45452|SNOMEDCT:715560009|UMLS:CN205105 http://purl.obolibrary.org/obo/MONDO_0018684 neonatal cardiac dysrhythmia ordo_disease MONDO:0016021 obsolete early infantile epileptic encephalopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0016021 MONDO:0018683 acquired ichthyosis biolink:Disease mondo NCIT:C112831|ICD10:L85.0|MESH:C538175|GARD:0000476|SCTID:8691004|Orphanet:454 A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso. SNOMEDCT:8691004|NCIT:C112831|MESH:C538175|ORPHA:454 http://purl.obolibrary.org/obo/MONDO_0018683 fish scale disease, acquired|acquired ichthyosis (disease)|ichthyosis, acquired|ichthyosis acquisita|acquired ichthyosis gard_rare|ordo_disease MONDO:0016022 early myoclonic encephalopathy biolink:Disease mondo EFO:1001900|Orphanet:1935|UMLS:C0014550|GARD:0007142|SCTID:44423001|DOID:308|UMLS:C0270855|NCIT:C116593|ICD10:G40.4 Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. UMLS:C0014550|DOID:308|UMLS:C0270855|NCIT:C116593|ORPHA:1935|SNOMEDCT:44423001 http://purl.obolibrary.org/obo/MONDO_0016022 myoclonus epilepsy|early myoclonic encephalopathy with suppression-bursts|early myoclonic encephalopathy|epileptic seizures - myoclonic|myoclonic seizure|myoclonic epilepsy|myoclonic seizure disorder|myoclonia epileptica|eme|epileptic seizures, myoclonic ordo_clinical_syndrome NCBITaxon:33682 Euglenozoa organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoans HGNC:26348 SEPTIN12 biolink:OntologyClass mondo http://identifiers.org/hgnc/26348 MONDO:0004049 combat disorder biolink:Disease mondo SCTID:279611005|MESH:D003130|DOID:6950 Neurotic reactions to unusual, severe, or overwhelming military stress. MESH:D003130|SNOMEDCT:279611005|DOID:6950|NCIT:C34498 http://purl.obolibrary.org/obo/MONDO_0004049 combat stress disorder|stress disorders, combat|war neuroses|neuroses, war|neuroses, combat|disorder, combat stress|disorders, combat|Shocks, shell|war neurosis|shock, shell|neurosis, combat|disorders, combat stress|disorder, combat|stress disorder, combat|combat stress disorders|combat neurosis|neurosis, war|combat neuroses|shell shock|combat disorder|shell Shocks MONDO:0004048 immature gastric teratoma biolink:Disease mondo DOID:6948|UMLS:C1334151|NCIT:C5256 A malignant teratoma that arises from the stomach. NCIT:C5256|UMLS:C1334151|DOID:6948 http://purl.obolibrary.org/obo/MONDO_0004048 malignant gastric teratoma|malignant teratoma of the stomach|malignant teratoma of stomach|stomach malignant teratoma|immature gastric teratoma MONDO:0004045 pediatric intraocular retinoblastoma biolink:Disease mondo NCIT:C9047|DOID:6938|UMLS:C1321869 Retinoblastoma during childhood that has not spread beyond the eye. NCIT:C9047|UMLS:C1321869|DOID:6938 http://purl.obolibrary.org/obo/MONDO_0004045 intraocular retinoblastoma|childhood intraocular retinoblastoma|intraocular retinoblastoma of childhood|pediatric intraocular retinoblastoma MONDO:0004044 ureter urothelial papilloma biolink:Disease mondo NCIT:C6160|DOID:6936|UMLS:C1519823 A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter. DOID:6936|NCIT:C6160|UMLS:C1519823 http://purl.obolibrary.org/obo/MONDO_0004044 ureter urothelial papilloma MONDO:0004047 sphenoidal sinus neoplasm biolink:Disease mondo SCTID:126679002|NCIT:C6792|DOID:6947|UMLS:C0345676 A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. NCIT:C6792|SNOMEDCT:126679002|UMLS:C0345676|DOID:6947 http://purl.obolibrary.org/obo/MONDO_0004047 neoplasm of the sphenoid sinus|sphenoid sinus neoplasm|sphenoid sinus tumor|sphenoidal sinus neoplasm (disease)|neoplasm of the sphenoidal sinus|tumor of sphenoid sinus|tumor of the sphenoid sinus|neoplasm of sphenoidal sinus|sphenoidal sinus neoplasm|sphenoidal sinus tumor|tumor of the sphenoidal sinus|neoplasm of sphenoid sinus|tumor of sphenoidal sinus MONDO:0004046 childhood brain meningioma biolink:Disease mondo NCIT:C6253|DOID:6939|UMLS:C1332949 A brain meningioma that occurs during childhood. DOID:6939|UMLS:C1332949|NCIT:C6253 http://purl.obolibrary.org/obo/MONDO_0004046 pediatric meningioma of the brain|brain pediatric meningioma|pediatric brain meningioma|childhood meningioma of the brain|Brain meningioma|childhood meningioma of brain|pediatric meningioma of brain MONDO:0004041 urothelial papilloma biolink:Disease mondo ICDO:8120/1|DOID:6933|ONCOTREE:UPA|NCIT:C3842 A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium. NCIT:C3842|DOID:6933 http://purl.obolibrary.org/obo/MONDO_0004041 bladder papilloma|bladder transitional cell papilloma|urothelial papilloma|uPA|urinary bladder urothelial papilloma|transitional cell papilloma of bladder MONDO:0004040 urinary bladder inverted papilloma biolink:Disease mondo DOID:6932|NCIT:C39859|SCTID:447765004|UMLS:C1511190 A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. DOID:6932|UMLS:C1511190|SNOMEDCT:447765004|NCIT:C39859 http://purl.obolibrary.org/obo/MONDO_0004040 urinary bladder inverted papilloma|bladder inverted papilloma MONDO:0004043 ureter inverted papilloma biolink:Disease mondo DOID:6935|UMLS:C1336874|NCIT:C6174 A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. UMLS:C1336874|DOID:6935|NCIT:C6174 http://purl.obolibrary.org/obo/MONDO_0004043 inverted papilloma of ureter|inverted papilloma of the ureter|ureteral inverted papilloma|ureter inverted papilloma MONDO:0004042 urethra inverted papilloma biolink:Disease mondo NCIT:C6173|UMLS:C1336887|DOID:6934 A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue. UMLS:C1336887|DOID:6934|NCIT:C6173 http://purl.obolibrary.org/obo/MONDO_0004042 inverted papilloma of the urethra|inverted papilloma of urethra|urethra inverted papilloma|urethral inverted papilloma HP:0005339 Abnormality of complement system biolink:PhenotypicFeature mondo UMLS:C4025213 An abnormality of the complement system. http://purl.obolibrary.org/obo/HP_0005339 MONDO:0018679 primary cutaneous plasmacytosis biolink:Disease mondo ICD10:L98.6|Orphanet:451602 ORPHA:451602 http://purl.obolibrary.org/obo/MONDO_0018679 ordo_disease MONDO:0016016 toluene embryopathy biolink:Disease mondo MESH:C538114|GARD:0002672|UMLS:C2931737|ICD10:Q86.8|Orphanet:1920 Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome. UMLS:C2931737|MESH:C538114|ORPHA:1920 http://purl.obolibrary.org/obo/MONDO_0016016 Hersh Podruch Weisskopk syndrome|toluene embryopathy|microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency ordo_malformation_syndrome|gard_rare MONDO:0018678 polyclonal hyperviscosity syndrome biolink:Disease mondo ICD10:D89.0|Orphanet:450322|UMLS:CN237743 ORPHA:450322|UMLS:CN237743 http://purl.obolibrary.org/obo/MONDO_0018678 ordo_clinical_syndrome MONDO:0016017 methimazole embryofetopathy biolink:Disease mondo SCTID:724144006|GARD:0003573|UMLS:C4510379|Orphanet:1923|ICD10:Q86.8 Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. UMLS:C4510379|SNOMEDCT:724144006|ORPHA:1923 http://purl.obolibrary.org/obo/MONDO_0016017 methimazole embryofetopathy|MMI/CMZ embryofetopathy|Methimazole/carbimazole embryofetopathy|Methimazole antenatal exposure|MMI/CMZ embryopathy|Methimazole/carbimazole embryopathy|fetal methimazole syndrome gard_rare|ordo_malformation_syndrome MONDO:0016018 diabetic embryopathy biolink:Disease mondo Orphanet:1926|ICD10:P00.4|UMLS:C3830518|SCTID:716020005|NCIT:C113485 Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother. UMLS:C3830518|NCIT:C113485|SNOMEDCT:716020005|ORPHA:1926 http://purl.obolibrary.org/obo/MONDO_0016018 ordo_malformation_syndrome MONDO:0016019 Rasmussen subacute encephalitis biolink:Disease mondo NCIT:C125384|ICD9:323.9|GARD:0007527|Orphanet:1929|SCTID:230191005|MESH:C535291|UMLS:C2930868|ICD10:G04.8 A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia. MESH:C535291|NCIT:C125384|SNOMEDCT:230191005|UMLS:C2930868|ORPHA:1929 http://purl.obolibrary.org/obo/MONDO_0016019 RE|Rasmussen encephalitis|Rasmussen syndrome|chronic focal encephalitis|CFE ordo_disease MONDO:0016012 diethylstilbestrol syndrome biolink:Disease mondo Orphanet:1916|SCTID:716005004|ICD10:Q86.8|GARD:0001859|UMLS:C0853695|NCIT:C113422|MedDRA:10012780 Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage. UMLS:C0853695|NCIT:C113422|SNOMEDCT:716005004|MEDDRA:10012780|ORPHA:1916 http://purl.obolibrary.org/obo/MONDO_0016012 antenatal diethylstilbestrol exposure|fetal diethylstilbestrol syndrome|Distilbene embryofetopathy|DES syndrome|DES embryofetopathy|diethylstilbestrol embryofetopathy ordo_disease|gard_rare MONDO:0018675 IgG4-related ophthalmic disease biolink:Disease mondo ICD10:H05.1|Orphanet:449563|UMLS:CN237741 A IgG4-related disease that involves the eye. ORPHA:449563|UMLS:CN237741 http://purl.obolibrary.org/obo/MONDO_0018675 eye IgG4-related disease|IgG4-related disease of eye ordo_disease MONDO:0016013 fetal methylmercury syndrome biolink:Disease mondo GARD:0003575|Orphanet:1917|ICD9:759.89|SCTID:62110005|ICD10:T56.1|MESH:D020262 Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. SNOMEDCT:62110005|MESH:D020262|UMLS:C0086626|UMLS:C0265376|ORPHA:1917 http://purl.obolibrary.org/obo/MONDO_0016013 Minamata disease|Methyl mercury antenatal infection|Methyl mercury antenatal exposure gard_rare|ordo_malformation_syndrome MONDO:0018674 IgG4-related submandibular gland disease biolink:Disease mondo Orphanet:449432|ICD10:K11.2|SCTID:448131008|NCIT:C82887 A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones. SNOMEDCT:448131008|NCIT:C82887|ORPHA:449432 http://purl.obolibrary.org/obo/MONDO_0018674 Kuttner's tumor|chronic sclerosing sialadenitis|Kuttner tumor|IgG4-related sialadenitis|Küttner tumor ordo_disease MONDO:0018677 visceral heterotaxy biolink:Disease mondo NCIT:C117273|OMIMPS:306955|UMLS:C3178805|MedDRA:10067265|DOID:0050545|EFO:0009081|ICD10:Q89.3|Orphanet:450 A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. MEDDRA:10067265|NCIT:C117273|UMLS:C3178805|ORPHA:450|DOID:0050545 http://purl.obolibrary.org/obo/MONDO_0018677 heterotaxia syndrome|lateralization defect|situs ambiguus|heterotaxy, visceral|visceral heterotaxy|heterotaxy syndrome|heterotaxia ordo_group_of_disorders|clingen MONDO:0016014 fetal minoxidil syndrome biolink:Disease mondo Orphanet:1918|GARD:0002308|SCTID:254251003|ICD9:760.79|ICD10:Q86.8|UMLS:C0432373 Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available. SNOMEDCT:254251003|ORPHA:1918|UMLS:C0432373 http://purl.obolibrary.org/obo/MONDO_0016014 minoxidil antenatal infection|minoxidil antenatal exposure gard_rare|ordo_malformation_syndrome MONDO:0016015 phenobarbital embryopathy biolink:Disease mondo Orphanet:1919|SCTID:715431002|GARD:0004315|ICD10:Q86.8|UMLS:C4275281 #64257;nger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. UMLS:C4275281|SNOMEDCT:715431002|ORPHA:1919 http://purl.obolibrary.org/obo/MONDO_0016015 phenobarbital antenatal exposure ordo_malformation_syndrome MONDO:0018676 eosinophilic angiocentric fibrosis biolink:Disease mondo ICD10:J39.8|Orphanet:449566|GARD:0002032 ORPHA:449566 http://purl.obolibrary.org/obo/MONDO_0018676 eosinophilic angiocentric fibrosis|EAF|Sinonasal eosinophilic angiocentric fibrosis|IgG4-related eosinophilic angiocentric fibrosis ordo_disease|gard_rare MONDO:0018671 IgG4-related kidney disease biolink:Disease mondo UMLS:CN237737|ICD10:N11.8|Orphanet:449395 ORPHA:449395|UMLS:CN237737 http://purl.obolibrary.org/obo/MONDO_0018671 ordo_disease MONDO:0018670 symptomatic form of fragile X syndrome in female carrier biolink:Disease mondo ICD10:Q99.2|UMLS:CN237736|Orphanet:449291 ORPHA:449291|UMLS:CN237736 http://purl.obolibrary.org/obo/MONDO_0018670 ordo_disease HGNC:14361 IRX5 biolink:OntologyClass mondo http://identifiers.org/hgnc/14361 MONDO:0018673 IgG4-related pachymeningitis biolink:Disease mondo UMLS:C4545992|ICD10:G03.9|Orphanet:449427|SCTID:762282007|GARD:0013256 Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment. SNOMEDCT:762282007|ORPHA:449427|UMLS:C4545992 http://purl.obolibrary.org/obo/MONDO_0018673 idiopathic hypertrophic pachymeningitis|idiopathic hypertrophic craniospinal pachymeningitis|idiopathic hypertrophic spinal pachymeningitis|idiopathic hypertrophic cranial pachymeningitis ordo_disease|gard_rare MONDO:0016010 vitamin K-antagonist embryofetopathy biolink:Disease mondo ICD9:759.89|MESH:C536683|ICD10:Q86.2|UMLS:C0265374|NCIT:C98906|GARD:0008580|Orphanet:1914|SCTID:38323006|MedDRA:10051445 A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. NCIT:C98906|SNOMEDCT:38323006|UMLS:C0265374|MEDDRA:10051445|ORPHA:1914|MESH:C536683 http://purl.obolibrary.org/obo/MONDO_0016010 fetal warfarin syndrome|vitamin K-antagonist embryopathy|congenital warfarin syndrome|di Sala syndrome|coumarin embryopathy|vitamin K-antagonist embryofetopathy|vitamin K antagonists embryofetopathy|warfarin embryofetopathy|warfarin syndrome|fetal Coumadin syndrome|DiSala syndrome|warfarin embryopathy|embryofetopathy due to oral anticoagulant therapy|coumarin syndrome|vitamin K antagonist embryofetopathy|fetal anticoagulant syndrome|vitamin K antagonist embryopathy gard_rare|ordo_malformation_syndrome MONDO:0016011 fetal alcohol syndrome biolink:Disease mondo Orphanet:1915|UMLS:C0015923|MedDRA:10016845|SCTID:205788004|DOID:0050667|ICD10:Q86.0|DOID:0050665|NCIT:C84713 Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). MEDDRA:10016845|MESH:D005310|NCIT:C84713|UMLS:C0015923|ORPHA:1915|DOID:0050667|DOID:0050665|SNOMEDCT:205788004 http://purl.obolibrary.org/obo/MONDO_0016011 alcohol-related birth defects|static encephalopathy|FASD|alcohol-related neurodevelopmental disorder|ARND|FAS|fetal alcohol spectrum disorders|ARBD ordo_malformation_syndrome MONDO:0018672 IgG4-related aortitis biolink:Disease mondo Orphanet:449400|ICD10:I77.6 ORPHA:449400 http://purl.obolibrary.org/obo/MONDO_0018672 IgG4-related periaortitis ordo_disease MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma biolink:Disease mondo DOID:6865|NCIT:C27849|UMLS:C1518768 A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells. NCIT:C27849|UMLS:C1518768|DOID:6865 http://purl.obolibrary.org/obo/MONDO_0004019 oxyphilic endometrial endometrioid adenocarcinoma MONDO:0006679 bladder neck obstruction biolink:Disease mondo ICD10:N32.0|DOID:13948|ICD9:596.0|UMLS:C0005694|MedDRA:10005053|SCTID:399072004|EFO:1000840|MESH:D001748|COHD:433813 Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. DOID:13948|SNOMEDCT:399072004|UMLS:C0005694|NCIT:C79541|MESH:D001748 http://purl.obolibrary.org/obo/MONDO_0006679 obstruction of bladder neck or vesicourethral orifice MONDO:0004016 pineal region mature teratoma biolink:Disease mondo UMLS:C1335417|NCIT:C6754|DOID:6857 NCIT:C6754|UMLS:C1335417|DOID:6857 http://purl.obolibrary.org/obo/MONDO_0004016 mature teratoma of the pineal area|mature teratoma of pineal area|mature teratoma of the pineal region|pineal area mature teratoma|mature teratoma of pineal region MONDO:0004015 pineal region teratoma biolink:Disease mondo NCIT:C6753|DOID:6856|UMLS:C1335419 A mature or immature teratoma that arises in the pineal region. NCIT:C6753|UMLS:C1335419|DOID:6856 http://purl.obolibrary.org/obo/MONDO_0004015 teratoma of the pineal region|teratoma of pineal region|pineal area teratoma|teratoma of the pineal area|teratoma of pineal area MONDO:0006677 bile reflux biolink:Disease mondo DOID:12237|MESH:D001655|EFO:1000838|UMLS:C0005403 Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas. DOID:12237|UMLS:C0005403|MESH:D001655 http://purl.obolibrary.org/obo/MONDO_0006677 MONDO:0004018 obsolete liver carcinoma biolink:Disease mondo A carcinoma that involves the liver. http://purl.obolibrary.org/obo/MONDO_0004018 MONDO:0006678 bladder calculus biolink:Disease mondo MedDRA:10005001|EFO:1000839|UMLS:C0005683|DOID:11355|SCTID:70650003|ICD9:594.1|MESH:D001744|ICD10:N21.0 A concretion in the urinary bladder. DOID:11355|UMLS:C0005683|NCIT:C26707|SNOMEDCT:70650003|MESH:D001744 http://purl.obolibrary.org/obo/MONDO_0006678 MONDO:0004017 pineal region immature teratoma biolink:Disease mondo NCIT:C6755|UMLS:C1335416|DOID:6858 NCIT:C6755|UMLS:C1335416|DOID:6858 http://purl.obolibrary.org/obo/MONDO_0004017 immature teratoma of the pineal area|immature teratoma of pineal area|atypical pineal teratoma|pineal area immature teratoma|immature teratoma of the pineal region|immature teratoma of pineal region NCBITaxon:116706 Heterotremata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_116706 Brachyrhyncha MONDO:0004012 adult botryoid rhabdomyosarcoma biolink:Disease mondo UMLS:C1332185|NCIT:C36099|DOID:6847 A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. NCIT:C36099|UMLS:C1332185|DOID:6847 http://purl.obolibrary.org/obo/MONDO_0004012 botryoid rhabdomyosarcoma of adults|adult botryoid sarcoma|adult botryoid-type embryonal rhabdomyosarcoma MONDO:0006675 obsolete benign monoclonal gammopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006675 MONDO:0006676 beriberi biolink:Disease mondo MedDRA:10004482|SCTID:36656008|MESH:D001602|ICD10:E51.11|EFO:1000837|ICD9:265.0|COHD:434620|ICD10:E51.1|UMLS:C0005122|DOID:0070313|GARD:0009948|NCIT:C34418|DOID:13725 Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth. DOID:13725|UMLS:C0005122|SNOMEDCT:36656008|DOID:0070313|MESH:D001602|NCIT:C34418 http://purl.obolibrary.org/obo/MONDO_0006676 vitamin B1 deficiency|thiamine deficiency|Beri Beri gard_rare NCBITaxon:116704 Eubrachyura organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_116704 MONDO:0004011 obsolete familial melanoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004011 ECTO:9001718 anti-inflammatory drug exposure biolink:OntologyClass mondo An exposure to anti-inflammatory drug. http://purl.obolibrary.org/obo/ECTO_9001718 exposure to anti-inflammatory drug MONDO:0006673 pituitary gland basophil adenoma biolink:Disease mondo DOID:4542|NCIT:C2856|MESH:D000237|EFO:1000834|UMLS:C0001431|ICDO:8300/0 An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes. NCIT:C2856|UMLS:C0001431|MESH:D000237|DOID:4542 http://purl.obolibrary.org/obo/MONDO_0006673 mucoid cell adenoma|basophilic adenoma|basophil adenoma|pituitary basophilic adenoma|pituitary gland basophilic adenoma|basophilic pituitary gland adenoma MONDO:0004014 ethmoid sinus ectopic meningioma biolink:Disease mondo DOID:6854|NCIT:C5309|UMLS:C1333475 An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus. NCIT:C5309|UMLS:C1333475|DOID:6854 http://purl.obolibrary.org/obo/MONDO_0004014 primary ectopic meningioma of the ethmoidal sinus|ethmoidal sinus primary ectopic meningioma|primary ectopic meningioma of ethmoidal sinus|ethmoid sinus primary ectopic meningioma|primary ectopic meningioma of the ethmoid sinus|primary ectopic meningioma of ethmoid sinus MONDO:0006674 benign fibrous mesothelioma biolink:Disease mondo UMLS:C0334511|MESH:D054363|DOID:2653 A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure. DOID:2653|UMLS:C0334511|MESH:D054363 http://purl.obolibrary.org/obo/MONDO_0006674 localized benign fibrous mesothelioma|solitary fibrous tumor, pleural|fibrous mesothelioma, benign|fibrous mesothelioma, benign (morphologic abnormality) MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma biolink:Disease mondo UMLS:C1515893|DOID:6848|NCIT:C40267 A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults. NCIT:C40267|UMLS:C1515893|DOID:6848 http://purl.obolibrary.org/obo/MONDO_0004013 adult sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of adults|adult vagina botryoid rhabdomyosarcoma|adult botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0006671 Bacteroides infectious disease biolink:Disease mondo UMLS:C0004669|EFO:1000832|ICD9:041.84|SCTID:2918000|MESH:D001442 Infections with bacteria of the genus bacteroides. UMLS:C0004669|MESH:D001442|SNOMEDCT:2918000 http://purl.obolibrary.org/obo/MONDO_0006671 Bacteroides caused disease or disorder|infection, Bacteroides|infection caused by Bacteroides|Bacteroides disease or disorder|Bacteroides infection|infection due to Bacteroides|infections, Bacteroides MONDO:0006672 balanitis biolink:Disease mondo UMLS:C0004690|ICD10:N48.1|EFO:1000833|NCIT:C26705|DOID:13033|MESH:D001446|SCTID:44882003|MedDRA:10004073 An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge. NCIT:C26705|UMLS:C0004690|SNOMEDCT:44882003|MESH:D001446|DOID:13033 http://purl.obolibrary.org/obo/MONDO_0006672 inflammation of glans penis|glans penis inflammation|balanitis MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma biolink:Disease mondo NCIT:C39879|UMLS:C1512750 NCIT:C39879|UMLS:C1512750 http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis and ureter transitional cell carcinoma|infiltrating renal pelvis and ureter urothelial carcinoma|infiltrating ureter transitional cell carcinoma MONDO:0006670 bacterial meningitis biolink:Disease mondo UMLS:C0085437|ICD10:G00.9|MedDRA:10004049|ICD9:320.7|SCTID:95883001|GARD:0005881|ICD9:320|NCIT:C118297|EFO:1000831|ICD9:320.89|ICD9:320.9|ICD10:G00|COHD:436091|DOID:9470|MESH:D016920 Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection. DOID:9470|NCIT:C118297|MESH:D016920|UMLS:C0085437|SNOMEDCT:95883001 http://purl.obolibrary.org/obo/MONDO_0006670 meningitis, bacterial|Bacteria caused infectious meningitis|Bacteria infectious meningitis gard_rare MONDO:0016009 fetal trimethadione syndrome biolink:Disease mondo ICD10:Q86.8|ICD9:759.89|SCTID:66351003|Orphanet:1913|UMLS:C0265373|MESH:C537798 Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects. UMLS:C0265373|MESH:C537798|ORPHA:1913|SNOMEDCT:66351003 http://purl.obolibrary.org/obo/MONDO_0016009 ordo_malformation_syndrome ECTO:9001711 antiinfective agent exposure biolink:OntologyClass mondo An exposure to antiinfective agent. http://purl.obolibrary.org/obo/ECTO_9001711 exposure to antiinfective agent ECTO:9001712 antiparasitic agent exposure biolink:OntologyClass mondo An exposure to antiparasitic agent. http://purl.obolibrary.org/obo/ECTO_9001712 exposure to antiparasitic agent MONDO:0018668 scedosporiosis biolink:Disease mondo Orphanet:449280|ICD10:B48.7 ORPHA:449280 http://purl.obolibrary.org/obo/MONDO_0018668 ordo_disease MONDO:0016005 indomethacin embryofetopathy biolink:Disease mondo Orphanet:1909|UMLS:C4275138|SCTID:715430001|UMLS:CN200656|GARD:0002994|ICD10:Q86.8 Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants. UMLS:C4275138|SNOMEDCT:715430001|ORPHA:1909|UMLS:CN200656 http://purl.obolibrary.org/obo/MONDO_0016005 fetal indomethacin syndrome|antenatal indomethacin exposure ordo_malformation_syndrome HGNC:14335 PLEKHA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14335 MONDO:0016006 Cockayne syndrome biolink:Disease mondo NCIT:C9460|GARD:0006122|ICD9:759.89|ICD10:Q87.1|Orphanet:191|MESH:D003057|SCTID:21086008|MedDRA:10009835|UMLS:C0009207|DOID:2962 Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. SNOMEDCT:21086008|DOID:2962|MESH:D003057|MEDDRA:10009835|UMLS:C0009207|NCIT:C9460|ORPHA:191 http://purl.obolibrary.org/obo/MONDO_0016006 dwarfism-retinal atrophy-deafness syndrome|progeria-like syndrome|Neill-Dingwall syndrome|progeroid nanism|Cockayne's syndrome ordo_disease MONDO:0018667 pleural empyema (disease) biolink:Disease mondo ICD10:J86.9|MESH:D016724|HP:0011919|Orphanet:449266|SCTID:405950009|ICD10:J86|DOID:3798 The presence of pus in the thoracic cavity, between the visceral and parietal pleura. DOID:3798|SNOMEDCT:405950009|MESH:D016724|ORPHA:449266 http://purl.obolibrary.org/obo/MONDO_0018667 abscess of pleural cavity|pyothorax|thorax abscess|purulent pleurisy|purulent pleuritis|empyema of pleura|pleural empyema|abscess of thorax|empyema ordo_clinical_situation HGNC:16997 MLLT11 biolink:OntologyClass mondo http://identifiers.org/hgnc/16997 MONDO:0016007 cocaine embryofetopathy biolink:Disease mondo SCTID:254250002|Orphanet:1911|UMLS:C0432371|ICD10:Q86.8|GARD:0001413|ICD9:760.75 A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring. ORPHA:1911|UMLS:C0432371|SNOMEDCT:254250002 http://purl.obolibrary.org/obo/MONDO_0016007 prenatal cocaine exposure|cocaine antenatal exposure|cocaine fetopathy|fetal cocaine syndrome ordo_malformation_syndrome|gard_rare MONDO:0016008 fetal hydantoin syndrome biolink:Disease mondo SCTID:70065001|ICD10:Q86.1|NCIT:C98927|GARD:0006435|MedDRA:10016508|UMLS:C0265372|ICD9:759.89|Orphanet:1912|MESH:C537922 Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported. ORPHA:1912|MESH:C537922|SNOMEDCT:70065001|MEDDRA:10016508|NCIT:C98927|UMLS:C0265372 http://purl.obolibrary.org/obo/MONDO_0016008 fetal dihydantoin syndrome|phenytoin embryofetopathy|phenytoin embryopathy|Dilantin embryopathy ordo_malformation_syndrome|gard_rare MONDO:0018669 snakebite envenomation biolink:Disease mondo Orphanet:449285|UMLS:CN237735|SCTID:61288004|ICD10:T63.0 UMLS:CN237735|ORPHA:449285|SNOMEDCT:61288004 http://purl.obolibrary.org/obo/MONDO_0018669 snake bite poisoning|poisoning caused by venomous snake|poisoning by venomous snake|snake venom causing toxic effect|snake venom poisoning|toxic effect of bite of venomous snake ordo_clinical_situation HGNC:16999 CLP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16999 MONDO:0018664 ectopia cordis (disease) biolink:Disease mondo ICD9:746.87|HP:0001683|NCIT:C111643|ICD10:Q24.8|Orphanet:448270|SCTID:78250005|MESH:D054083 A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations. NCIT:C111643|SNOMEDCT:78250005|MESH:D054083|ORPHA:448270 http://purl.obolibrary.org/obo/MONDO_0018664 ectopia cordis ordo_morphological_anomaly MONDO:0016001 2-hydroxyglutaric aciduria biolink:Disease mondo NCIT:C128187|DOID:0050573|SCTID:698870008|UMLS:C2746066|ICD10:E72.8|ICD9:270.8|Orphanet:19|MESH:C535306|GARD:0010761 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. UMLS:C2746066|SNOMEDCT:698870008|ORPHA:19|NCIT:C128187|DOID:0050573|MESH:C535306 http://purl.obolibrary.org/obo/MONDO_0016001 2-HGA|2-hydroxyglutaric aciduria|2-hydroxyglutaric acidemia ordo_group_of_disorders|gard_rare MONDO:0018663 regressive spondylometaphyseal dysplasia biolink:Disease mondo Orphanet:448267|ICD10:Q77.8|UMLS:CN248525|OMIM:618019 UMLS:CN248525|ORPHA:448267|http://identifiers.org/omim/618019 http://purl.obolibrary.org/obo/MONDO_0018663 ordo_malformation_syndrome MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 biolink:Disease mondo UMLS:C0268342|UMLS:CN202461|Orphanet:1900|MESH:C536198|OMIM:225400|NCIT:C125700|ICD10:Q79.6|GARD:0002083|SCTID:718211004 Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. http://identifiers.org/omim/225400|SNOMEDCT:718211004|NCIT:C125700|UMLS:C0268342|UMLS:CN202461|MESH:C536198|ORPHA:1900 http://purl.obolibrary.org/obo/MONDO_0016002 Ehlers-Danlos syndrome, type VIA|EDS 6 (formerly)|kEDS|Ehlers-Danlos syndrome type 6A|Ehlers-Danlos syndrome kyphoscoliotic type|EDS VIA|kyphoscoliotic EDS|EDSKSCL1|nevo syndrome|Ehlers-Danlos syndrome oculoscoliotic type|Ehlers-Danlos syndrome type 6 (formerly)|Ehlers-Danlos syndrome, ocular-scoliotic type|kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency|EDS, kyphoscoliotic type|Ehlers-Danlos syndrome, type 6 A|Ehlers-Danlos syndrome, type Via, formerly|Ehlers-Danlos syndrome, kyphoscoliosis type|Ehlers-Danlos syndrome, oculoscoliotic type|Ehlers-Danlos syndrome, type Via|Ehlers-Danlos syndrome, kyphoscoliotic type|Ehlers-Danlos syndrome, type VI|Ehlers-Danlos syndrome, kyphoscoliotic type, 1; EDSKSCL1|Ehlers-Danlos syndrome type 6A (formerly)|kyphoscoliotic Ehlers-Danlos syndrome|EDS, oculoscoliotic type|Ehlers-Danlos syndrome, kyphoscoliotic type, 1|EDS 6|Ehlers-Danlos syndrome, type VI; EDS6|Ehlers-Danlos syndrome, type 6|EDS6A, formerly|Ehlers-Danlos syndrome, type VIA, formerly|EDS6|EDS VI ordo_disease MONDO:0016003 ehrlichiosis biolink:Disease mondo ICD10:A77.4|ICD9:082.4|SCTID:240626005|UMLS:C0085399|Orphanet:1902|DOID:10242|COHD:438342|ICD10:A48.8|GARD:0002092|MESH:D016873|ICD9:082.40|ICD10:A77.40 Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE). DOID:10242|MESH:D016873|UMLS:C0085399|SNOMEDCT:240626005|ORPHA:1902 http://purl.obolibrary.org/obo/MONDO_0016003 human ehrlichiosis ordo_disease MONDO:0018666 hepatoblastoma biolink:Disease mondo DOID:687|MESH:D018197|ICD10:C22.2|EFO:1000292|GARD:0002657|MedDRA:10062001|UMLS:C0206624|NCIT:C3728|ICDO:8970/3|ONCOTREE:LIHB|Orphanet:449 Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy. MESH:D018197|NCIT:C3728|DOID:687|ORPHA:449|MEDDRA:10062001|UMLS:C0206624 http://purl.obolibrary.org/obo/MONDO_0018666 HBL|hepatoblastoma, malignant|pediatric hepatoblastoma|hepatoblastoma|pediatric embryonal hepatoma ordo_disease MONDO:0018665 X-linked acrogigantism due to a point mutation biolink:Disease mondo ICD10:E22.0|Orphanet:448348|UMLS:CN237730 ORPHA:448348|UMLS:CN237730 http://purl.obolibrary.org/obo/MONDO_0018665 familial infantile gigantism due to a point mutation|X-LAG (X-linked acrogigantism) due to a point mutation ordo_etiological_subtype MONDO:0016004 aminopterin/methotrexate embryofetopathy biolink:Disease mondo Orphanet:1908|SCTID:65986000|ICD9:759.89|GARD:0002294|MedDRA:10071183|ICD10:Q86.8|UMLS:C0432367|NCIT:C98928 Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. SNOMEDCT:65986000|UMLS:C0432367|NCIT:C98928|MEDDRA:10071183|ORPHA:1908 http://purl.obolibrary.org/obo/MONDO_0016004 aminopterin syndrome|fetal aminopterin syndrome|aminopterin embryopathy syndrome|aminopterin fetopathy syndrome|fetal methotrexate syndrome ordo_malformation_syndrome|gard_rare NCBITaxon:33677 Acanthamoebidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_33677 MONDO:0018660 hemophilia biolink:Disease mondo NCIT:C3093|MedDRA:10061992|SCTID:90935002|UMLS:C0684275|Orphanet:448|GARD:0010418 Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. MEDDRA:10061992|NCIT:C3093|ORPHA:448|UMLS:C0684275|SNOMEDCT:90935002 http://purl.obolibrary.org/obo/MONDO_0018660 ordo_group_of_disorders MONDO:0018662 autosomal recessive brachyolmia biolink:Disease mondo Orphanet:448242|UMLS:CN237725|ICD10:Q76.3 Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. ORPHA:448242|UMLS:CN237725 http://purl.obolibrary.org/obo/MONDO_0018662 brachyolmia, Hobaek/Toledo type|brachyolmia, autosomal recessive ordo_malformation_syndrome MONDO:0018661 Zika virus infectious disease biolink:Disease mondo Orphanet:448237|ICD10:U06|ICD10:A92.5|ICD10:A92.8|SCTID:3928002|UMLS:CN237724|DOID:0060478|NCIT:C128423|MESH:D000071243|UMLS:C0276289|GARD:0012894 Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy. DOID:0060478|SNOMEDCT:3928002|ORPHA:448237|NCIT:C128423|MESH:D000071243|UMLS:C0276289|UMLS:CN237724 http://purl.obolibrary.org/obo/MONDO_0018661 Zika virus disease or disorder|fever, Zika|congenital Zika virus infection|congenital Zika syndrome|Zika virus infection|Zika virus infectious disease|Zika fever|Zika virus caused disease or disorder|Zika|ZikV infection|Zika virus disease ordo_disease|gard_rare MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion biolink:Disease mondo UMLS:CN200646|ICD10:E20.8|Orphanet:189466 ORPHA:189466|UMLS:CN200646 http://purl.obolibrary.org/obo/MONDO_0016000 ordo_clinical_subtype MONDO:0004027 obsolete embryonal cancer biolink:Disease mondo A germ cell cancer that is associated with an embryo. http://purl.obolibrary.org/obo/MONDO_0004027 embryo neoplasm|embryonal neoplasm MONDO:0004026 skin tag biolink:Disease mondo SCTID:201091002|DOID:6873|UMLS:C0037293|NCIT:C3374 A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction. SNOMEDCT:201091002|NCIT:C3374|DOID:6873|UMLS:C0037293 http://purl.obolibrary.org/obo/MONDO_0004026 cutaneous fibroepithelial polyp|cutaneous tag|fibroepithelial polyp of the skin|fibroepithelial polyp|soft fibroma|fibroepithelial polyp of skin|acrochordon|fibroma molle MONDO:0006688 byssinosis biolink:Disease mondo MedDRA:10006822|SCTID:13151001|MESH:D002095|ICD9:504|UMLS:C2242894|ICD10:J66.0|DOID:10323|EFO:1000851|UMLS:C0006542|NCIT:C84605|GARD:0005976 An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week. SNOMEDCT:13151001|UMLS:C0006542|DOID:10323|NCIT:C84605|MESH:D002095|UMLS:C2242894 http://purl.obolibrary.org/obo/MONDO_0006688 pneumoconiosis from cotton dust|cotton dust pneumoconiosis|stripper's asthma|flax-dressers' disease|cotton mill fever|Monday morning fever gard_rare MONDO:0004029 obsolete ureter small cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004029 MONDO:0006689 carcinoid syndrome biolink:Disease mondo ICD10:E34.0|OMIM:114900|COHD:199771|ICD9:259.2|GARD:0005994|Orphanet:100093|EFO:1000852|SCTID:35868009|NCIT:C3215|MedDRA:10007270 A paraneoplastic syndrome comprising the signs and symptoms that occur secondary to carcinoid tumors. The syndrome includes flushing and diarrhea, and less frequently, heart failure, emesis and bronchoconstriction. It is caused by endogenous secretion of mainly serotonin and kallikrein. ORPHA:100093|NCIT:C3215|http://identifiers.org/omim/114900|SNOMEDCT:35868009 http://purl.obolibrary.org/obo/MONDO_0006689 carcinoid syndrome|carcinoid tumors, intestinal|carcinoid tumor syndrome|malignant carcinoid syndrome ordo_clinical_syndrome|gard_rare MONDO:0004028 small intestinal fibrosarcoma biolink:Disease mondo DOID:6880|NCIT:C5336|UMLS:C1335994 A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. NCIT:C5336|UMLS:C1335994|DOID:6880 http://purl.obolibrary.org/obo/MONDO_0004028 fibrosarcoma of small bowel|small bowel fibrosarcoma|fibrosarcoma of the small intestine|fibrosarcoma of small intestine|fibrosarcoma, small intestine|small intestine fibrosarcoma (disease)|small intestine fibrosarcoma|fibrosarcoma of the small bowel|small intestinal fibrosarcoma MONDO:0006686 brain stem infarction biolink:Disease mondo MESH:D020526|EFO:1000847|UMLS:C0521542|ICD9:434.91|SCTID:95457000|DOID:3523 Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury. UMLS:C0521542|MESH:D020526|SNOMEDCT:95457000|DOID:3523 http://purl.obolibrary.org/obo/MONDO_0006686 brainstem infarction NOS|brain infarction of brainstem|brainstem infarction|brainstem brain infarction MONDO:0004023 obsolete hepatoblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004023 MONDO:0006687 burning mouth syndrome biolink:Disease mondo Orphanet:353253|MESH:D002054|UMLS:C2930806|MedDRA:10068065|NCIT:C62545|DOID:4331|EFO:1000850|UMLS:CN242089|ICD10:K14.6|SCTID:399165002|UMLS:C0006430|GARD:0005974 A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth. UMLS:C0006430|ORPHA:353253|MESH:D002054|UMLS:C2930806|UMLS:CN242089|DOID:4331|SNOMEDCT:399165002|NCIT:C62545 http://purl.obolibrary.org/obo/MONDO_0006687 BMS|Stomatopyrosis|stomatodynia|oral dysesthesia|Orodynia ordo_disease MONDO:0004022 parasagittal meningioma biolink:Disease mondo UMLS:C0751304|NCIT:C4960|DOID:6869 A meningioma that affects the superior sagittal sinus and invades the parasagittal angle. NCIT:C4960|DOID:6869|UMLS:C0751304 http://purl.obolibrary.org/obo/MONDO_0004022 HGNC:28984 WASHC5 biolink:OntologyClass mondo http://identifiers.org/hgnc/28984 MONDO:0004025 obsolete spinal cord embryonal tumor, not otherwise specified biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0004025 MONDO:0006684 brain edema biolink:Disease mondo EFO:1000845|ICD9:348.5|DOID:4724|MedDRA:10006121|MESH:D001929|SCTID:2032001 Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6) SNOMEDCT:2032001|MESH:D001929|DOID:4724 http://purl.obolibrary.org/obo/MONDO_0006684 wet brain|intracranial swelling MONDO:0006685 brain hypoxia - ischemia biolink:Disease mondo EFO:1000846|MESH:D020925 A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions. MESH:D020925 http://purl.obolibrary.org/obo/MONDO_0006685 MONDO:0004024 spinal cord neuroblastoma biolink:Disease mondo DOID:6871|NCIT:C5155|UMLS:C1336046 A neuroblastoma that affects the spinal cord. UMLS:C1336046|NCIT:C5155|DOID:6871 http://purl.obolibrary.org/obo/MONDO_0004024 spinal cord neuroblastoma|neuroblastoma of the spinal cord|neuroblastoma of spinal cord HGNC:28986 ZNF592 biolink:OntologyClass mondo http://identifiers.org/hgnc/28986 MONDO:0006682 brachial plexus neuritis biolink:Disease mondo MESH:D020968|EFO:1000843|ICD10:G54.5|NCIT:C84600|GARD:0004228|ICD9:723.4|MedDRA:10073002|DOID:3689|SCTID:72893007 An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm. SNOMEDCT:72893007|NCIT:C84600|MESH:D020968|DOID:3689 http://purl.obolibrary.org/obo/MONDO_0006682 acute brachial neuritis syndrome|brachial nerve plexus neuritis|idiopathic neuralgic amyotrophy|acute brachial neuritis|brachial neuritis|acute shoulder neuritis|acute brachial radiculitis syndrome|neuritis of brachial nerve plexus|parsonage-Aldren-Turner syndrome|parsonage Turner syndrome gard_rare MONDO:0006683 brachial plexus neuropathy biolink:Disease mondo SCTID:3548001|ICD9:353.0|EFO:1000844|NCIT:C27194|DOID:3690|UMLS:C0700251|MESH:D020516|COHD:378741|ICD10:G54.0 A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand. SNOMEDCT:3548001|MESH:D020516|UMLS:C0700251|NCIT:C27194|DOID:3690 http://purl.obolibrary.org/obo/MONDO_0006683 brachial nerve plexus peripheral neuropathy|brachial plexus disorder|brachial plexopathy|peripheral neuropathy of brachial nerve plexus MONDO:0006680 blue nevus biolink:Disease mondo NCIT:C3803|MedDRA:10062788|GARD:0008452|EFO:1000841|ICDO:8780/0|MESH:D018329|SCTID:254806009 An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative. NCIT:C3803|SNOMEDCT:254806009|MESH:D018329 http://purl.obolibrary.org/obo/MONDO_0006680 Jadassohn-TiC(che syndrome|Jadassohn-TiC(che nevus|Jadassohn-Tièche nevus|benign mesenchymal melanoma|blue skin Nevus|Tièche-Jadassohn nevus|blue nevus|blue Nevus of skin|blue Nevus of the skin|blue neuronevus|Jadassohn-Tièche syndrome gard_rare MONDO:0004021 mediastinal malignant lymphoma biolink:Disease mondo NCIT:C6633|UMLS:C1334665|DOID:6868 A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. NCIT:C6633|UMLS:C1334665|DOID:6868 http://purl.obolibrary.org/obo/MONDO_0004021 lymphoma of the mediastinum|lymphoma of mediastinum|mediastinal malignant lymphoma|mediastinal lymphoma|mediastinum lymphoma|primary mediastinal lymphoma MONDO:0004020 mediastinal gray zone lymphoma biolink:Disease mondo NCIT:C37870|UMLS:C1334657|DOID:6867 A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities. NCIT:C37870|UMLS:C1334657|DOID:6867 http://purl.obolibrary.org/obo/MONDO_0004020 mediastinal Gray zone lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma MONDO:0006681 Borrelia infectious disease biolink:Disease mondo EFO:1000842|MESH:D001899|UMLS:C0006035|MedDRA:10061591 Infections with bacteria of the genus borrelia. MESH:D001899|UMLS:C0006035 http://purl.obolibrary.org/obo/MONDO_0006681 Borrelia caused disease or disorder|Borrelia disease or disorder MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome biolink:Disease mondo Orphanet:447961|UMLS:CN237716|OMIM:618373 UMLS:CN237716|http://identifiers.org/omim/618373|ORPHA:447961 http://purl.obolibrary.org/obo/MONDO_0018657 CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA; CAPOK ordo_disease MONDO:0018656 tremor-ataxia-central hypomyelination syndrome biolink:Disease mondo ICD10:E75.2|Orphanet:447896|UMLS:CN237714 UMLS:CN237714|ORPHA:447896 http://purl.obolibrary.org/obo/MONDO_0018656 tach syndrome ordo_disease MONDO:0018659 partial duplication of the short arm of chromosome 19 biolink:Disease mondo Orphanet:447985 ORPHA:447985 http://purl.obolibrary.org/obo/MONDO_0018659 partial trisomy of chromosome 19p|partial trisomy of the short arm of chromosome 19|partial duplication of chromosome 19p|partial duplication of the short arm of chromosome type 19 ordo_group_of_disorders HGNC:14348 HTRA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14348 MONDO:0018658 19p13.3 microduplication syndrome biolink:Disease mondo UMLS:CN237720|ICD10:Q92.3|Orphanet:447980 19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. UMLS:CN237720|ORPHA:447980 http://purl.obolibrary.org/obo/MONDO_0018658 dup(19)(p13.13) ordo_malformation_syndrome MONDO:0018653 Polymerase proofreading-related adenomatous polyposis biolink:Disease mondo Orphanet:447877|ICD10:D12.6 ORPHA:447877 http://purl.obolibrary.org/obo/MONDO_0018653 PPAP ordo_clinical_subtype MONDO:0018652 biological anomaly without phenotypic characterization biolink:Disease mondo Orphanet:447874 ORPHA:447874 http://purl.obolibrary.org/obo/MONDO_0018652 ordo_group_of_disorders MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome biolink:Disease mondo Orphanet:447893|UMLS:CN237713|ICD10:E75.2 UMLS:CN237713|ORPHA:447893 http://purl.obolibrary.org/obo/MONDO_0018655 ordo_disease HGNC:14344 C1QTNF5 biolink:OntologyClass mondo http://identifiers.org/hgnc/14344 MONDO:0018654 idiopathic dropped head syndrome biolink:Disease mondo Orphanet:447881|UMLS:CN237712 UMLS:CN237712|ORPHA:447881 http://purl.obolibrary.org/obo/MONDO_0018654 isolated neck extensor myopathy ordo_clinical_syndrome MONDO:0018651 lipoyl transferase 2 deficiency biolink:Disease mondo Orphanet:447795 ORPHA:447795 http://purl.obolibrary.org/obo/MONDO_0018651 ordo_biological_anomaly MONDO:0018650 obsolete hemochromatosis type 5 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0018650 HGNC:14341 EDARADD biolink:OntologyClass mondo http://identifiers.org/hgnc/14341 HGNC:1618 CCT5 biolink:OntologyClass mondo http://identifiers.org/hgnc/1618 HGNC:28958 NUP93 biolink:OntologyClass mondo http://identifiers.org/hgnc/28958 CHEBI:48854 sulfurous acid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_48854 dihydroxidooxidosulfur|sulphurous acid|Sulfurous acid|Sulfite|sulfurous acid|H2SO3|S(O)(OH)2|[SO(OH)2]|acide sulfureux|schweflige Saeure|dihydrogen trioxosulfate|acido sulfuroso|trioxosulfuric acid CHEBI:22221 acyl group biolink:ChemicalSubstance mondo An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids. http://purl.obolibrary.org/obo/CHEBI_22221 acyl groups|alkanoyl|acyl group|groupe acyle|alkanoyl group UBERON:0003449 tail intervertebral disc biolink:AnatomicalEntity mondo An intervertebral disk that is part of a tail [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003449 intervertebral disc of post-ventral region|intervertebral disc of tail|tail intervertebral disk|tail spinal disc|intervertebral disk of post-ventral region|intervertebral disk of tail HGNC:28956 GPD1L biolink:OntologyClass mondo http://identifiers.org/hgnc/28956 HGNC:28957 EMC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/28957 GO:0045598 regulation of fat cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of adipocyte differentiation. http://purl.obolibrary.org/obo/GO_0045598 regulation of adipocyte differentiation|regulation of adipocyte cell differentiation GO:0045599 negative regulation of fat cell differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. http://purl.obolibrary.org/obo/GO_0045599 negative regulation of adipocyte differentiation|downregulation of fat cell differentiation|down regulation of fat cell differentiation|inhibition of fat cell differentiation|down-regulation of fat cell differentiation|negative regulation of adipocyte cell differentiation GO:0045596 negative regulation of cell differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation. http://purl.obolibrary.org/obo/GO_0045596 downregulation of cell differentiation|down regulation of cell differentiation|inhibition of cell differentiation|down-regulation of cell differentiation GO:0045597 positive regulation of cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cell differentiation. http://purl.obolibrary.org/obo/GO_0045597 stimulation of cell differentiation|up regulation of cell differentiation|up-regulation of cell differentiation|activation of cell differentiation|upregulation of cell differentiation GO:0045595 regulation of cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. http://purl.obolibrary.org/obo/GO_0045595 UBERON:0003458 neck bone biolink:AnatomicalEntity mondo A bone that is part of a neck [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003458 neck (volume) bone organ|bone organ of neck|neck (volume) bone|bone of neck|bone of neck (volume)|bone organ of neck (volume)|neck bone organ UBERON:0003459 chest bone biolink:AnatomicalEntity mondo A bone that is part of a chest [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003459 bone organ of anterolateral part of thorax|anterior thoracic region bone organ|bone of anterolateral part of thorax|anterior thoracic region bone|anterolateral part of thorax bone organ|bone organ of anterior thoracic region|anterolateral part of thorax bone|bone of anterior thoracic region|front of thorax bone organ|chest bone organ|bone of chest|front of thorax bone|bone organ of chest|bone of front of thorax|bone organ of front of thorax UBERON:0003456 respiratory system lymphatic vessel biolink:AnatomicalEntity mondo A lymphatic vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003456 lymph vessel of respiratory system|respiratory system lymph vessel|apparatus respiratorius lymphatic vessel|lymph vessel of apparatus respiratorius|apparatus respiratorius lymph vessel|lymphatic vessel of apparatus respiratorius|lymphatic vessel of respiratory system HGNC:16974 SRCAP biolink:OntologyClass mondo http://identifiers.org/hgnc/16974 HGNC:14312 CRIPT biolink:OntologyClass mondo http://identifiers.org/hgnc/14312 UBERON:0003457 head bone biolink:AnatomicalEntity mondo A bone that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003457 head bone organ|bone organ of adult head|bone of adult head|craniofacial bone|adult head bone organ|bone organ of head|adult head bone|bone of head HGNC:16973 PPP1R17 biolink:OntologyClass mondo http://identifiers.org/hgnc/16973 UBERON:0003455 inner renal medulla loop of Henle biolink:AnatomicalEntity mondo A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003455 loop of Henle, inner medullary portion|kidney inner medulla loop of Henle GO:0008614 pyridoxine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate. http://purl.obolibrary.org/obo/GO_0008614 pyridoxine metabolism UBERON:0003438 iris nerve biolink:AnatomicalEntity mondo Any nerve that innervates the iris. http://purl.obolibrary.org/obo/UBERON_0003438 nerve of iris|ciliary nerve UBERON:0003439 nerve of trunk region biolink:AnatomicalEntity mondo A nerve that is part of the trunk region of the body (not to be confused with a nerve trunk). http://purl.obolibrary.org/obo/UBERON_0003439 nerve of trunk|nerve of torso|torso nerve|trunk nerve GO:0008611 ether lipid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. http://purl.obolibrary.org/obo/GO_0008611 ether lipid anabolism|ether lipid synthesis|ether lipid biosynthesis|plasmalogen biosynthetic process|ether lipid formation GO:0008610 lipid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0008610 lipid synthesis|lipid formation|lipid biosynthesis|lipogenesis|lipid anabolism UBERON:0015420 ureteral valve biolink:AnatomicalEntity mondo A valve that is part of a ureter. http://purl.obolibrary.org/obo/UBERON_0015420 valve or ureter|ureteral valve UBERON:0015423 hilar portion of hepatic duct biolink:AnatomicalEntity mondo The segment of either hepatic duct located in the hilum of the liver. http://purl.obolibrary.org/obo/UBERON_0015423 hilar part of hepatic duct HGNC:26300 ODAPH biolink:OntologyClass mondo http://identifiers.org/hgnc/26300 UBERON:0003440 limb nerve biolink:AnatomicalEntity mondo A nerve that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003440 nerve of limb NCBITaxon:9443 Primates organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_9443 Primata|primates|primate UBERON:0015418 urethra mesenchymal layer biolink:AnatomicalEntity mondo A mesenchyme that is part of a urethra. http://purl.obolibrary.org/obo/UBERON_0015418 UBERON:0003447 digit nerve of manus biolink:AnatomicalEntity mondo A nerve that is part of a finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003447 digitus manus nerve|nerve of finger|nerve of digit of terminal segment of free upper limb|hand digit nerve|nerve of terminal segment of free upper limb digit|terminal segment of free upper limb digit nerve|finger nerve|nerve of digit of hand|nerve of digitus manus|digit of terminal segment of free upper limb nerve|nerve of hand digit|digit of hand nerve HGNC:1632 CD164 biolink:OntologyClass mondo http://identifiers.org/hgnc/1632 UBERON:0003448 manus nerve biolink:AnatomicalEntity mondo A nerve that is part of a manus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003448 hand nerve|nerve of manus|nerve of hand HGNC:1633 CD19 biolink:OntologyClass mondo http://identifiers.org/hgnc/1633 UBERON:0003445 pes nerve biolink:AnatomicalEntity mondo A nerve that is part of a foot [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003445 foot nerve|nerve of foot HGNC:1630 CD151 biolink:OntologyClass mondo http://identifiers.org/hgnc/1630 UBERON:0003446 ankle nerve biolink:AnatomicalEntity mondo A nerve that is part of an ankle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003446 neural network of ankle|tarsal region nerve|nerve of ankle UBERON:0003443 thoracic cavity nerve biolink:AnatomicalEntity mondo A nerve that is located in a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003443 cavity of chest nerve|pectoral cavity nerve|nerve of chest cavity|cavity of thorax nerve|nerve of cavity of thorax|nerve of thoracic cavity|chest cavity nerve|nerve of cavity of chest|nerve of pectoral cavity UBERON:0003444 pelvis nerve biolink:AnatomicalEntity mondo A nerve that is part of a pelvis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003444 nerve of pelvis UBERON:0003441 forelimb nerve biolink:AnatomicalEntity mondo A nerve that is part of a forelimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003441 wing nerve|nerve of superior member|nerve of upper extremity|nerve of fore limb|nerve of forelimb|fore limb nerve UBERON:0003442 hindlimb nerve biolink:AnatomicalEntity mondo A nerve that is part of a hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003442 nerve of hindlimb|nerve of inferior member|nerve of hind limb|hind limb nerve|nerve of lower extremity HGNC:16980 CFHR3 biolink:OntologyClass mondo http://identifiers.org/hgnc/16980 UBERON:0003429 abdomen nerve biolink:AnatomicalEntity mondo A nerve that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003429 nerve of abdomen CHEBI:24867 monoatomic ion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_24867 monoatomic ions CHEBI:24866 salt biolink:ChemicalSubstance mondo A salt is an assembly of cations and anions. http://purl.obolibrary.org/obo/CHEBI_24866 sal|salts|Salz|sales|sel|ionic compounds|salt|ionic compound|Salze|sels UBERON:0003427 abdominal fat pad biolink:AnatomicalEntity mondo The encapsulated adipose tissue in the abdomen. http://purl.obolibrary.org/obo/UBERON_0003427 abdominal fat depot|abdomen fat pad|fat pad of abdomen UBERON:0003428 gonadal fat pad biolink:AnatomicalEntity mondo The encapsulated adipose tissue associated with the ovaries or testes. http://purl.obolibrary.org/obo/UBERON_0003428 gonadal fat depot|gonadal fat pad|fat pad of gonads|gonad-associated fat pad|gonad fat pad|fat pad of gonad UBERON:0015410 heart plus pericardium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0015410 heart/pericardium CHEBI:36841 11-hydroxy steroid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36841 11-hydroxy steroids HGNC:16950 STAMBP biolink:OntologyClass mondo http://identifiers.org/hgnc/16950 UBERON:0003436 shoulder nerve biolink:AnatomicalEntity mondo A nerve that is part of a shoulder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003436 nerve of shoulder UBERON:0003437 eyelid nerve biolink:AnatomicalEntity mondo A nerve that innervates an eyelid. http://purl.obolibrary.org/obo/UBERON_0003437 nerve of blepharon|blepharon nerve|nerve of eyelid|palpebral nerve UBERON:0003434 wrist nerve biolink:AnatomicalEntity mondo A nerve that is part of a wrist [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003434 nerve of wrist|nerve of carpal region|carpal region nerve HGNC:1641 CD209 biolink:OntologyClass mondo http://identifiers.org/hgnc/1641 UBERON:0003435 pedal digit nerve biolink:AnatomicalEntity mondo A nerve that is part of a toe [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003435 nerve of foot digit|digit of foot nerve|digitus pedis nerve|foot digit nerve|nerve of digit of terminal segment of free lower limb|nerve of toe|nerve of terminal segment of free lower limb digit|foot digit nerve|terminal segment of free lower limb digit nerve|toe nerve|hind limb digit nerve|digit of terminal segment of free lower limb nerve|nerve of digitus pedis|nerve of digit of foot UBERON:0003432 chest nerve biolink:AnatomicalEntity mondo A nerve that is part of a chest [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003432 nerve of chest|nerve of front of thorax|nerve of anterior thoracic region|front of thorax nerve|anterolateral part of thorax nerve|anterior thoracic region nerve|nerve of anterolateral part of thorax HGNC:28929 KRT74 biolink:OntologyClass mondo http://identifiers.org/hgnc/28929 UBERON:0003433 arm nerve biolink:AnatomicalEntity mondo A nerve that is part of an arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003433 nerve of arm|nerve of brachial region|brachial region nerve UBERON:0003430 neck nerve biolink:AnatomicalEntity mondo A nerve that is part of a neck [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003430 nerve of neck (volume)|nerve of neck|neck (volume) nerve UBERON:0003431 leg nerve biolink:AnatomicalEntity mondo A nerve that is part of a leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003431 nerve of leg CHEBI:24873 iron molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_24873 iron molecular entity|iron compounds|iron molecular entities FOODON:03412972 food additive biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03412972 HGNC:28949 IQCB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/28949 UBERON:0003418 mesenchyme of submandibular gland biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing submandibular gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003418 submaxillary gland mesenchyme|submandibular gland mesenchyme UBERON:0003419 mesenchyme of parotid biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing parotid gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003419 parotid gland mesenchyme|mesenchyme of parotid gland|parotid mesenchyme UBERON:0003416 mesenchyme of tongue biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing tongue [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003416 tongue mesenchyme UBERON:0003417 mesenchyme of soft palate biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing soft palate [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003417 soft palate mesenchyme CHEBI:24870 ion biolink:ChemicalSubstance mondo A molecular entity having a net electric charge. http://purl.obolibrary.org/obo/CHEBI_24870 Ionen|ion|Ion|ions|iones CHEBI:36856 hydrogen isocyanide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36856 HN(+)#C(-)|nitriliomethanide|HNC|CNH|hydroisocyanic acid|hydrogen isocyanide HGNC:14304 UNC45B biolink:OntologyClass mondo http://identifiers.org/hgnc/14304 HGNC:16966 ZMYND11 biolink:OntologyClass mondo http://identifiers.org/hgnc/16966 UBERON:0003425 renal lymph node biolink:AnatomicalEntity mondo A lymph node that is located in a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003425 lymph node of kidney|kidney lymph node UBERON:0003426 dermis adipose tissue biolink:AnatomicalEntity mondo An adipose tissue that is part of a dermis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003426 dermis fatty tissue|adipose tissue of dermis|fat tissue of dermis|fatty tissue of dermis|dermis fat tissue UBERON:0003424 mesenchyme of hard palate biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing hard palate [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003424 hard palate mesenchyme GO:0070563 negative regulation of vitamin D receptor signaling pathway biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the vitamin D receptor signaling pathway activity. http://purl.obolibrary.org/obo/GO_0070563 down regulation of vitamin D receptor signaling pathway|negative regulation of VDR signaling pathway|inhibition of vitamin D receptor signaling pathway|down-regulation of vitamin D receptor signaling pathway|negative regulation vitamin D receptor signalling pathway|negative regulation of VDR signalling pathway|downregulation of vitamin D receptor signaling pathway GO:0070564 positive regulation of vitamin D receptor signaling pathway biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of vitamin D receptor signaling pathway activity. http://purl.obolibrary.org/obo/GO_0070564 upregulation of vitamin D receptor signaling pathway|positive regulation of vitamin D receptor signalling pathway|stimulation of vitamin D receptor signaling pathway|up regulation of vitamin D receptor signaling pathway|up-regulation of vitamin D receptor signaling pathway|activation of vitamin D receptor signaling pathway|positive regulation of VDR signaling pathway UBERON:0003422 mesenchyme of umbilical cord biolink:AnatomicalEntity mondo A gelatinous substance within the umbilical cord, largely made up of mucopolysaccharides (hyaluronic acid and chondroitin sulfate). It also contains some fibroblasts and macrophages. It is derived from Extra Embryonic Mesoderm[WP] http://purl.obolibrary.org/obo/UBERON_0003422 umbilical cord mesenchyme|Wharton's jelly GO:0070561 vitamin D receptor signaling pathway biolink:OntologyClass mondo The series of molecular signals generated as a consequence of a vitamin D receptor binding to one of its physiological ligands. http://purl.obolibrary.org/obo/GO_0070561 VDR signaling pathway|vitamin D receptor signalling pathway|calcitriol signaling pathway GO:0070562 regulation of vitamin D receptor signaling pathway biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of vitamin D receptor signaling pathway activity. http://purl.obolibrary.org/obo/GO_0070562 regulation of VDR signaling pathway|regulation of vitamin D receptor signalling pathway UBERON:0003420 mesenchyme of sublingual gland biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing sublingual gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003420 sublingual gland mesenchyme|mesenchyme of Rivinus'gland|Rivinus'gland mesenchyme|ductus sublingualis mesenchyme|mesenchyme of ductus sublingualis MONDO:0006617 vesiculobullous skin disease biolink:Disease mondo DOID:2731|UMLS:C0037275|EFO:1000774|MESH:D012872 Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) UMLS:C0037275|MESH:D012872|DOID:2731 http://purl.obolibrary.org/obo/MONDO_0006617 dermatoses, bullous|dermatosis, subcorneal pustular|subcorneal pustular dermatoses|bullous skin diseases|skin disease, vesiculobullous|vesicular skin disease|skin diseases, vesicular|subcorneal pustular dermatosis|dermatoses, subcorneal pustular|vesiculobullous dermatoses|vesicular skin diseases|pustular dermatoses, subcorneal|bullous skin disease|Sneddon-Wilkinson disease|vesiculobullous skin disease|skin disease, bullous|skin diseases, bullous|pustular dermatosis, subcorneal|dermatoses, vesiculobullous|Sneddon Wilkinson disease|vesiculobullous skin diseases|skin disease, vesicular|bullous dermatoses MONDO:0006618 vibratory urticaria biolink:Disease mondo ICD9:708.4|COHD:139100|SCTID:51247001|EFO:1000775|GARD:0009806|ICD10:L50.4|Wikipedia:Urticaria#Vibratory_angioedema|UMLS:C0157743|DOID:1554 This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[ DOID:1554|SNOMEDCT:51247001|UMLS:C0157743 http://purl.obolibrary.org/obo/MONDO_0006618 MONDO:0006615 sweat gland disease biolink:Disease mondo ICD9:705.89|ICD10:L74|UMLS:C0038986|ICD10:L74.9|MESH:D013543|DOID:1383|ICD9:705.9|ICD9:705|EFO:1000772|SCTID:88232005 A disease involving the sweat gland. MESH:D013543|UMLS:C0038986|SNOMEDCT:88232005|DOID:1383 http://purl.obolibrary.org/obo/MONDO_0006615 disorder of sweat gland|sweat gland disease|disease or disorder of sweat gland|disorder of sweat glands|sweat gland disease or disorder|disease of sweat gland|disease of sweat glands|disorder of sweat gland UBERON:0015474 axilla skin biolink:AnatomicalEntity mondo A zone of skin that is part of a axilla. http://purl.obolibrary.org/obo/UBERON_0015474 skin of axilla|axillary skin MONDO:0006616 toxicodendron dermatitis biolink:Disease mondo ICD9:692.6|UMLS:C0032342|DOID:3819|EFO:1000773|MESH:D011040|SCTID:410049000 An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed) UMLS:C0032342|MESH:D011040|DOID:3819|SNOMEDCT:410049000 http://purl.obolibrary.org/obo/MONDO_0006616 contact dermatitis due to genus Toxicodendron|Rhus dermatitis MONDO:0006613 stromal corneal pigmentation biolink:Disease mondo ICD9:371.12|SCTID:55031000|UMLS:C0155105|EFO:1000770|DOID:12311|ICD10:H18.06 Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium. SNOMEDCT:55031000|UMLS:C0155105|DOID:12311 http://purl.obolibrary.org/obo/MONDO_0006613 stromal corneal pigmentations MONDO:0006614 subcorneal pustular dermatosis biolink:Disease mondo ICD9:694.1|Orphanet:48377|MedDRA:10042342|COHD:134117|EFO:1000771|SCTID:25147002|ICD10:L13.1|UMLS:C0600336|DOID:8508 A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities. DOID:8508|MEDDRA:10042342|SNOMEDCT:25147002|UMLS:C0600336|ORPHA:48377 http://purl.obolibrary.org/obo/MONDO_0006614 subcorneal pustular dermatosis|subcorneal pustular dermatitis|pustulosis subcornealis|Sneddon-Wilkinson disease|Sneddon-Wilkinson disease or syndrome ordo_disease MONDO:0006611 skin sarcoidosis biolink:Disease mondo EFO:1000767|DOID:13402|COHD:4185547|NCIT:C34996|ICD10:D86.3|SCTID:55941000|UMLS:C0036203|Wikipedia:Cutaneous_manifestations_of_sarcoidosis Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. NCIT:C34996|DOID:13402|UMLS:C0036203|SNOMEDCT:55941000 http://purl.obolibrary.org/obo/MONDO_0006611 sarcoidosis of zone of skin|cutaneous sarcoid|cutaneous sarcoidosis|zone of skin sarcoidosis HGNC:28912 WDR45 biolink:OntologyClass mondo http://identifiers.org/hgnc/28912 MONDO:0006612 steroid lipomatosis biolink:Disease mondo DOID:3925|UMLS:C1336506|NCIT:C27487|EFO:1000769 A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone. DOID:3925|NCIT:C27487|UMLS:C1336506 http://purl.obolibrary.org/obo/MONDO_0006612 steroid lipomatosis MONDO:0006610 skin atrophy biolink:Disease mondo EFO:1000766|ICD10:L90.9|NCIT:C35163|COHD:134118|Wikipedia:Steroid_atrophy|ICD9:701.8|DOID:2733|ICD10:L90|SCTID:400190005|UMLS:C0151514 The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging. NCIT:C35163|UMLS:C0151514|SNOMEDCT:400190005|DOID:2733 http://purl.obolibrary.org/obo/MONDO_0006610 atrophy of skin|atrophic condition of skin|atrophic skin|atrophy - skin|atrophoderma CHEBI:36828 pseudohalide anion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36828 pseudohalide ions|pseudohalide anions|pseudohalogen anion|pseudohalogen ion|pseudohalides UBERON:0015479 scrotum skin biolink:AnatomicalEntity mondo A zone of skin that is part of a scrotum. http://purl.obolibrary.org/obo/UBERON_0015479 scrotal skin|skin of scrotum UBERON:0015476 nose skin biolink:AnatomicalEntity mondo A zone of skin that is part of a external nose. http://purl.obolibrary.org/obo/UBERON_0015476 skin of external nose|skin of nose|external nasal skin CHEBI:36829 polyatomic monoanion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36829 polyatomic monoanions UBERON:0015477 axillary fat pad biolink:AnatomicalEntity mondo A fat pad that is part of a axilla. http://purl.obolibrary.org/obo/UBERON_0015477 UBERON:0003494 respiratory system venule biolink:AnatomicalEntity mondo A venule that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003494 venule of apparatus respiratorius|venule of respiratory system|apparatus respiratorius venule MONDO:0018606 extensive peripapillary myelinated nerve fibers biolink:Disease mondo Orphanet:440724|UMLS:CN237640 ORPHA:440724|UMLS:CN237640 http://purl.obolibrary.org/obo/MONDO_0018606 ordo_disease CHEBI:36820 ring assembly biolink:ChemicalSubstance mondo Two or more cyclic systems (single rings or fused systems) which are directly joined to each other by double or single bonds are named ring assemblies when the number of such direct ring junctions is one less than the number of cyclic systems involved. http://purl.obolibrary.org/obo/CHEBI_36820 ring assemblies|ring assembly UBERON:0003495 respiratory system arteriole biolink:AnatomicalEntity mondo An arteriole that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003495 MONDO:0018605 disorders of pentose/polyol metabolism biolink:Disease mondo Orphanet:440701|UMLS:CN237637 ORPHA:440701|UMLS:CN237637 http://purl.obolibrary.org/obo/MONDO_0018605 ordo_group_of_disorders MONDO:0018608 pure autonomic failure biolink:Disease mondo SCTID:84438001|Orphanet:441|ICD10:G90.3|MESH:D054970|UMLS:C0393911|UMLS:CN205091|UMLS:C2931939|GARD:0010428 Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension. MESH:C544351|UMLS:C2931939|UMLS:C0393911|SNOMEDCT:84438001|ORPHA:441|MESH:D054970|UMLS:CN205091 http://purl.obolibrary.org/obo/MONDO_0018608 Pure idiopatic dysautonomia|Bradbury-Eggleston syndrome|Pure dysautonomia|orthostatic hypotension (a symptom)|idiopathic orthostatic hypotension (a symptom)|PAF|idiopathic orthostatic hypotension|Bradbury Eggleston syndrome ordo_disease MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium biolink:Disease mondo Orphanet:440727|UMLS:CN237641|UMLS:C1862062 UMLS:C1862062|ORPHA:440727|UMLS:CN237641 http://purl.obolibrary.org/obo/MONDO_0018607 combined hamartoma of the retina and RPE|CHR-RPE ordo_disease MONDO:0018602 necrotizing soft tissue infection biolink:Disease mondo ICD9:729.99|ICD10:M72.6|Orphanet:440368|ICD9:136.9|UMLS:CN237632|UMLS:C2732890|SCTID:443928008 UMLS:C2732890|ORPHA:440368|UMLS:CN237632|SNOMEDCT:443928008 http://purl.obolibrary.org/obo/MONDO_0018602 NSTI ordo_disease MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome biolink:Disease mondo Orphanet:440354|UMLS:CN237631 ORPHA:440354|UMLS:CN237631 http://purl.obolibrary.org/obo/MONDO_0018601 ordo_malformation_syndrome MONDO:0018604 familial colorectal cancer type X biolink:Disease mondo Orphanet:440437|UMLS:CN237636|NCIT:C120084|UMLS:C3896578|ICD10:C18.7|ICD10:C18.6|ICD10:C18.5|ICD10:C18.4|ICD10:C18.3|ICD10:C18.2|ICD10:C18.1|ICD10:C18.0 Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes. NCIT:C120084|ORPHA:440437|UMLS:CN237636|UMLS:C3896578 http://purl.obolibrary.org/obo/MONDO_0018604 FCCTX|familial colorectal cancer type X ordo_disease ECTO:8000035 exposure to anthropogenic modulatory intervention process biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to anthropogenic modulatory intervention process. http://purl.obolibrary.org/obo/ECTO_8000035 anthropogenic modulatory intervention process exposure MONDO:0018603 interstitial lung disease due to SP-c deficiency biolink:Disease mondo UMLS:CN237633|Orphanet:440392|ICD10:J84.8 ORPHA:440392|UMLS:CN237633 http://purl.obolibrary.org/obo/MONDO_0018603 interstitial lung disease due to surfactant protein C deficiency ordo_disease HGNC:1665 SCARB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/1665 MONDO:0018600 congenital abducens nerve palsy biolink:Disease mondo ICD10:Q07.8|Orphanet:440233 ORPHA:440233 http://purl.obolibrary.org/obo/MONDO_0018600 benign congenital sixth cranial nerve palsy|congenital CNVI palsy ordo_disease HGNC:1663 CD36 biolink:OntologyClass mondo http://identifiers.org/hgnc/1663 UBERON:0003498 heart blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003498 blood vessel of heart|cardiac blood vessel UBERON:0003499 brain blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003499 blood vessel of brain HGNC:28908 DNAJC12 biolink:OntologyClass mondo http://identifiers.org/hgnc/28908 MONDO:0006608 seborrheic dermatitis (disease) biolink:Disease mondo MESH:D012628|ICD10:L21|NCIT:C111888|ICD9:706.3|ICD10:L21.9|ICD9:690.1|DOID:8741|EFO:1000764|UMLS:C0036508|HP:0001051|ICD9:690.10 A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. DOID:8741|NCIT:C111888|MESH:D012628|UMLS:C0036508 http://purl.obolibrary.org/obo/MONDO_0006608 seborrheic eczema|Seborrhoeic eczema|seborrheic dermatitis|cradle Cap|skin seborrheic|Seborrhoeic dermatitis|seborrhea UBERON:0003496 head blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003496 blood vessel of adult head|adult head blood vessel|blood vessel of head HGNC:28909 CCDC22 biolink:OntologyClass mondo http://identifiers.org/hgnc/28909 MONDO:0006609 seborrheic infantile dermatitis biolink:Disease mondo ICD9:690.11|ICD10:L21.0|DOID:8941|EFO:1000765|UMLS:C0221244|COHD:141654 Excessive shedding of dry scaly material from the scalp in humans. DOID:8941|UMLS:C0221244 http://purl.obolibrary.org/obo/MONDO_0006609 scalp seborrheic dermatitis (disease)|seborrhea capitis|infantile seborrheic dermatitis|Seborrhoea capitis|seborrheic dermatitis (disease) of scalp|Seborrhoeic eczema of scalp|Pityriasis capitis|complement 5 dysfunction|Seborrhoeic dermatitis of scalp|seborrhea sicca|infantile seborrhoeic dermatitis|generalized seborrheic dermatitis of infants|cradle cap UBERON:0003497 abdomen blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003497 blood vessel of abdomen MONDO:0006628 obsolete Sezary disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006628 obsolete Sezary's disease MONDO:0006629 osteoarthritis, hip biolink:Disease mondo NCIT:C34876|COHD:4079749|EFO:1000786|MESH:D015207 Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion. MESH:D015207|NCIT:C34876 http://purl.obolibrary.org/obo/MONDO_0006629 hip osteoarthritis HGNC:28927 KRT71 biolink:OntologyClass mondo http://identifiers.org/hgnc/28927 MONDO:0006626 diabetic neuropathy biolink:Disease mondo EFO:1000783|SCTID:230572002|DOID:9743|UMLS:C0011882|ICD9:250.6|MESH:D003929|NCIT:C26748 A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. MESH:D003929|UMLS:C0011882|SNOMEDCT:230572002|DOID:9743|NCIT:C26748 http://purl.obolibrary.org/obo/MONDO_0006626 MONDO:0006627 obsolete microscopic polyangiitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006627 MONDO:0006624 overactive bladder (disease) biolink:Disease mondo ICD9:596.51|SCTID:236633002|EFO:1000781|MESH:D053201|HP:0000012|MedDRA:10020853 Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present. SNOMEDCT:236633002|MESH:D053201 http://purl.obolibrary.org/obo/MONDO_0006624 overactive bladder MONDO:0006625 altitude sickness biolink:Disease mondo EFO:1000782|ICD10:T70.2|MESH:D000532|Wikipedia:Altitude_sickness Multiple symptoms associated with reduced oxygen at high altitude. MESH:D000532 http://purl.obolibrary.org/obo/MONDO_0006625 MONDO:0006622 vulvar seborrheic keratosis biolink:Disease mondo NCIT:C6375|DOID:6944|UMLS:C1336981|EFO:1000779 A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation. DOID:6944|NCIT:C6375|UMLS:C1336981 http://purl.obolibrary.org/obo/MONDO_0006622 mammalian vulva seborrheic keratosis|seborrheic keratosis of the vulva|seborrheic keratosis of vulva|seborrheic keratosis of mammalian vulva MONDO:0006623 obsolete autoimmune pancreatitis type 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0006623 MONDO:0006620 vulva fibroepithelial polyp biolink:Disease mondo NCIT:C6857|DOID:8255|UMLS:C1336978|EFO:1000777 A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia. NCIT:C6857|DOID:8255|UMLS:C1336978 http://purl.obolibrary.org/obo/MONDO_0006620 vulvar fibroepithelial stromal polyp|skin tag of mammalian vulva|mammalian vulva skin tag|vulval fibroepithelial polyp|vulvar fibroepithelial polyp|fibroepithelial polyp of the vulva|fibroepithelial polyp of vulva MONDO:0006621 vulvar inverted follicular keratosis biolink:Disease mondo NCIT:C40291|DOID:6943|UMLS:C1520084|EFO:1000778 Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies. NCIT:C40291|DOID:6943|UMLS:C1520084 http://purl.obolibrary.org/obo/MONDO_0006621 mammalian vulva inverted follicular keratosis|inverted follicular keratosis of mammalian vulva UBERON:0003483 thymus lymphoid tissue biolink:AnatomicalEntity mondo A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003483 lymphoid tissue of thymus gland|lymphoid tissue of thymus|thymus gland lymphoid tissue HGNC:16947 ERLIN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16947 CHEBI:36830 monoanion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_36830 monoanions UBERON:0003484 eye sebaceous gland biolink:AnatomicalEntity mondo A sebaceous gland that is part of a camera-type eye. Example: a tarsal gland. http://purl.obolibrary.org/obo/UBERON_0003484 sebaceous gland of vertebrate eye|camera-type eye sebaceous gland|sebaceous gland of camera-type eye|vertebrate eye sebaceous gland UBERON:0003481 tail vein biolink:AnatomicalEntity mondo A vein that is part of a tail [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003481 post-vent region vein|vein of post-vent region|vein of tail|caudal vein UBERON:0003480 vein of clitoris biolink:AnatomicalEntity mondo A vein that is part of a clitoris [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003480 clitoris vein HGNC:1677 CD247 biolink:OntologyClass mondo http://identifiers.org/hgnc/1677 UBERON:0003489 respiratory system capillary endothelium biolink:AnatomicalEntity mondo An endothelium of capillary that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003489 respiratory system endothelium of capillary vessel|apparatus respiratorius endothelium of blood capillary|capillary vessel endothelium of respiratory system|blood capillary endothelium of apparatus respiratorius|endothelium of capillary of respiratory system|endothelium of capillary vessel of apparatus respiratorius|endothelium of blood capillary of apparatus respiratorius|respiratory system blood capillary endothelium|respiratory system capillary vessel endothelium|capillary endothelium of respiratory system|respiratory system endothelium of capillary|capillary endothelium of apparatus respiratorius|endothelium of blood capillary of respiratory system|apparatus respiratorius capillary endothelium|endothelium of capillary vessel of respiratory system|endothelium of capillary of apparatus respiratorius|apparatus respiratorius capillary vessel endothelium|capillary vessel endothelium of apparatus respiratorius|blood capillary endothelium of respiratory system|apparatus respiratorius endothelium of capillary|apparatus respiratorius endothelium of capillary vessel|respiratory system endothelium of blood capillary|apparatus respiratorius blood capillary endothelium HGNC:1674 CD3E biolink:OntologyClass mondo http://identifiers.org/hgnc/1674 GO:0070588 calcium ion transmembrane transport biolink:OntologyClass mondo A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0070588 calcium ion membrane transport|transmembrane calcium transport HGNC:16940 DGAT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/16940 HGNC:1675 CD3G biolink:OntologyClass mondo http://identifiers.org/hgnc/1675 UBERON:0003487 skin sebaceous gland biolink:AnatomicalEntity mondo A holocrine gland of the dermis that secretes sebum into hair follicles. http://purl.obolibrary.org/obo/UBERON_0003487 cutaneous sebaceous gland|sebaceous gland of skin UBERON:0003488 abdominal mammary gland biolink:AnatomicalEntity mondo A lactiferous gland that is part of the abdominal region [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003488 lobe of breast of abdomen|abdomen lobe of breast|lactiferous gland of abdomen|abdomen lobe of mammary gland|abdomen mammary gland|mammary gland of abdomen|lobe of mammary gland of abdomen|abdomen lactiferous gland HGNC:1673 CD3D biolink:OntologyClass mondo http://identifiers.org/hgnc/1673 UBERON:0003485 vagina sebaceous gland biolink:AnatomicalEntity mondo A sebaceous gland that is part of a vagina [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003485 sebaceous gland of vagina MONDO:0006619 viral exanthem biolink:Disease mondo SCTID:49882001|EFO:1000776|ICD9:057.8|DOID:8672|ICD9:057.9|UMLS:C0153062|COHD:140020 A virus-induced exanthem UMLS:C0153062|DOID:8672|SNOMEDCT:49882001 http://purl.obolibrary.org/obo/MONDO_0006619 HGNC:1678 CD4 biolink:OntologyClass mondo http://identifiers.org/hgnc/1678 UBERON:0015458 mediastinal fat pad biolink:AnatomicalEntity mondo A fat pad that is part of a mediastinum. http://purl.obolibrary.org/obo/UBERON_0015458 UBERON:0015454 pancreatic fat pad biolink:AnatomicalEntity mondo A fat pad that is part of a pancreas. http://purl.obolibrary.org/obo/UBERON_0015454 UBERON:0015453 subcutaneous lymph node biolink:AnatomicalEntity mondo A lymph node that is part of a hypodermis. http://purl.obolibrary.org/obo/UBERON_0015453 UBERON:0003472 cerebellar artery biolink:AnatomicalEntity mondo An artery that supplies blood to the cerebellum. http://purl.obolibrary.org/obo/UBERON_0003472 UBERON:0003473 thoracic cavity artery biolink:AnatomicalEntity mondo An artery that is part of a thoracic cavity[cjm]. http://purl.obolibrary.org/obo/UBERON_0003473 thoracic artery UBERON:0003470 artery of upper lip biolink:AnatomicalEntity mondo The superior labial artery (superior labial branch of facial artery) is larger and more tortuous than the inferior labial artery. It follows a similar course along the edge of the upper lip, lying between the mucous membrane and the Orbicularis oris, and anastomoses with the artery of the opposite side. It supplies the upper lip, and gives off in its course two or three vessels which ascend to the nose; a septal branch ramifies on the nasal septum as far as the point of the nose, and an alar branch supplies the ala of the nose. http://purl.obolibrary.org/obo/UBERON_0003470 ramus labialis superior arteriae facialis|superior labial artery|arteria labialis superior|superior labial branch of facial artery NCBITaxon:43075 Trichomonas tenax organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_43075 UBERON:0003471 artery of lower lip biolink:AnatomicalEntity mondo The Iinferior labial artery (inferior labial branch of facial artery) arises near the angle of the mouth; it passes upward and forward beneath the Triangularis and, penetrating the Orbicularis oris, runs in a tortuous course along the edge of the lower lip between this muscle and the mucous membrane. It supplies the labial glands, the mucous membrane, and the muscles of the lower lip; and anastomoses with the artery of the opposite side, and with the mental branch of the inferior alveolar artery. http://purl.obolibrary.org/obo/UBERON_0003471 arteria labialis inferior|ramus labialis inferior arteriae facialis|inferior labial artery|inferior labial branch of facial artery|ramus labialis inferior (arteria facialis) HGNC:16915 HAX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16915 HGNC:16912 EMG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/16912 ECTO:8000017 exposure to atmospheric process biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to atmospheric process. http://purl.obolibrary.org/obo/ECTO_8000017 atmospheric process exposure ECTO:9001793 anaesthetic exposure biolink:OntologyClass mondo An exposure to anaesthetic. http://purl.obolibrary.org/obo/ECTO_9001793 exposure to anaesthetic UBERON:0003478 vein of lower lip biolink:AnatomicalEntity mondo The inferior labial vein is the vein receiving blood from the lower lip. http://purl.obolibrary.org/obo/UBERON_0003478 venae labiales inferiores|lower lip vein|vena labialis inferior|inferior labial vein UBERON:0003479 thoracic cavity vein biolink:AnatomicalEntity mondo A vein that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003479 cavity of thorax vein|vein of thoracic cavity|vein of cavity of chest|vein of pectoral cavity|pectoral cavity vein|vein of chest cavity|cavity of chest vein|chest cavity vein|vein of cavity of thorax UBERON:0003476 respiratory system venous blood vessel biolink:AnatomicalEntity mondo A vein that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003476 vein of respiratory system|respiratory system vein|vein of apparatus respiratorius|apparatus respiratorius vein UBERON:0003477 vein of upper lip biolink:AnatomicalEntity mondo The inferior labial vein is the vein receiving blood from the upper lip. http://purl.obolibrary.org/obo/UBERON_0003477 vena labialis superior|upper lip vein|superior labial vein UBERON:0003474 meningeal artery biolink:AnatomicalEntity mondo One of the arteries supplying a meninix[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003474 UBERON:0003475 ureteric vein biolink:AnatomicalEntity mondo A vein that is part of a ureter [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003475 vein of ureter|ureter vein MONDO:0006606 scleredema adultorum biolink:Disease mondo NCIT:C85057|EFO:1000762|UMLS:C0036413|DOID:3140|MESH:D012592 A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis. MESH:D012592|DOID:3140|UMLS:C0036413|NCIT:C85057 http://purl.obolibrary.org/obo/MONDO_0006606 Buschke scleredema|Scleredemas|scleredema|scleredema adultorum of Buschke|Diabeticorum, scleredema|Diabeticorums, scleredema|Buschkes scleredema|scleredema Diabeticorum of Buschke|scleredema Diabeticorums|scleredema Diabeticorum|Buschke scleredema Diabeticorum|Buschke scleredema adultorum|scleredema, Buschke's|scleredema adultorum|Buschke's scleredema MONDO:0006607 sebaceous gland disease biolink:Disease mondo MESH:D012625|UMLS:C0036502|ICD10:L70.8|SCTID:3441005|EFO:1000763|ICD9:706.1|DOID:9098 A disease involving the sebaceous gland. DOID:9098|SNOMEDCT:3441005|MESH:D012625|UMLS:C0036502 http://purl.obolibrary.org/obo/MONDO_0006607 disease or disorder of sebaceous gland|disease of sebaceous glands|disease of sebaceous gland|sebaceous gland disease or disorder|disorder of sebaceous gland|sebaceous gland disease|disorder of sebaceous gland MONDO:0006604 rosacea biolink:Disease mondo MESH:D012393|ICD10:L71.9|ICD9:695.3|NCIT:C97136|UMLS:C0035854|EFO:1000760|SCTID:398909004|Wikipedia:Rosacea|DOID:8881|ICD10:L71|COHD:136773 A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids. UMLS:C0035854|DOID:8881|SNOMEDCT:398909004|MESH:D012393|NCIT:C97136 http://purl.obolibrary.org/obo/MONDO_0006604 acne, erythematosa|acne roscea|acne rosacea MONDO:0006605 scalp dermatosis biolink:Disease mondo DOID:3136|EFO:1000761|SCTID:402694007|UMLS:C0036271|MESH:D012536 Dermotosis of scalp SNOMEDCT:402694007|DOID:3136|MESH:D012536|UMLS:C0036271 http://purl.obolibrary.org/obo/MONDO_0006605 dermatosis of scalp MONDO:0006602 porokeratosis (disease) biolink:Disease mondo UMLS:C0162839|EFO:1000757|ICD10:L56.5|DOID:3805|HP:0200044|ICD10:Q82.8|ICD9:757.39|ICD9:692.75|Wikipedia:Porokeratosis|MedDRA:10036175|SCTID:400080004|OMIMPS:175800|Orphanet:79358|NCIT:C85019 A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella. MESH:D017499|MEDDRA:10036175|UMLS:C0162839|ORPHA:79358|NCIT:C85019|DOID:3805|SNOMEDCT:400080004 http://purl.obolibrary.org/obo/MONDO_0006602 porokeratosis|disseminated superficial actinic porokeratosis ordo_group_of_disorders CHEBI:24834 inorganic anion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anions MONDO:0006603 reactive cutaneous fibrous lesion biolink:Disease mondo DOID:2053|EFO:1000759|NCIT:C27549|UMLS:C1335666 A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing. UMLS:C1335666|DOID:2053|NCIT:C27549 http://purl.obolibrary.org/obo/MONDO_0006603 CHEBI:24833 oxoacid biolink:ChemicalSubstance mondo A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/CHEBI_24833 oxy-acids|oxoacid|oxo acid|oxiacids|oxyacids|oxoacids|oxacids HGNC:28900 PNPLA8 biolink:OntologyClass mondo http://identifiers.org/hgnc/28900 MONDO:0006600 pigmentation disease biolink:Disease mondo SCTID:414032001 SNOMEDCT:414032001 http://purl.obolibrary.org/obo/MONDO_0006600 disorder of pigmentation HGNC:1689 CD59 biolink:OntologyClass mondo http://identifiers.org/hgnc/1689 MONDO:0006601 pityriasis rosea biolink:Disease mondo ICD9:696.3|SCTID:77252004|EFO:1000756|UMLS:C0032026|DOID:8892|NCIT:C26855|MESH:D017515|ICD10:L42|Wikipedia:Pityriasis_rosea|COHD:141371 A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated. MESH:D017515|SNOMEDCT:77252004|UMLS:C0032026|NCIT:C26855|DOID:8892 http://purl.obolibrary.org/obo/MONDO_0006601 Pityriasis rosea|Pityriasis circinata UBERON:0003461 shoulder bone biolink:AnatomicalEntity mondo A bone that is connected via a shoulder joint (i.e. glenohumeral or acromioclavicular joints). The shoulder bones are the clavicle, scapula and humerus - but note that these are only considered to be shoulder bones when a true shoulder is present, as in most tetrapods. http://purl.obolibrary.org/obo/UBERON_0003461 bone of shoulder|shoulder-articulating bone ECTO:8000000 exposure to environmental system process biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to environmental system process. http://purl.obolibrary.org/obo/ECTO_8000000 environmental system process exposure UBERON:0003462 facial bone biolink:AnatomicalEntity mondo A bone that is part of a facial skeleton [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003462 facial bone|bone of facial skeleton|facial skeleton bone|bone of viscerocranium|viscerocranium bone UBERON:0003460 arm bone biolink:AnatomicalEntity mondo A bone that is part of the region of the forelimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia http://purl.obolibrary.org/obo/UBERON_0003460 bone of upper extremity|bone of arm|bone organ of arm|arm bone organ UBERON:0003469 respiratory system artery biolink:AnatomicalEntity mondo An artery that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003469 HGNC:1698 CD79A biolink:OntologyClass mondo http://identifiers.org/hgnc/1698 HGNC:1699 CD79B biolink:OntologyClass mondo http://identifiers.org/hgnc/1699 CHEBI:24836 inorganic oxide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_24836 inorganic oxides UBERON:0003468 ureteric segment of renal artery biolink:AnatomicalEntity mondo The ureteral branches of renal artery are small branches which supply the ureter. http://purl.obolibrary.org/obo/UBERON_0003468 ureteric artery CHEBI:24835 inorganic molecular entity biolink:ChemicalSubstance mondo A molecular entity that contains no carbon. http://purl.obolibrary.org/obo/CHEBI_24835 inorganic molecular entities|anorganische Verbindungen|inorganic compounds|inorganic entity|inorganics UBERON:0003466 forelimb zeugopod bone biolink:AnatomicalEntity mondo A bone that is part of a lower arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003466 lower arm bone|zeugopod bone, forelimb|wing zeugopod bone|arm zeugopod bone organ|arm zeugopod bone|zeugopod bone, upper|antebrachial region bone organ|antebrachial region bone UBERON:0003463 trunk bone biolink:AnatomicalEntity mondo A bone that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003463 bone of trunk|bone of torso|bone organ of trunk|bone organ of torso|torso bone organ|trunk bone organ|torso bone UBERON:0003464 hindlimb bone biolink:AnatomicalEntity mondo A bone that is part of a hindlimb region. Examples: any pes phalanx, femur. Counter-examples: ischium, pubis (they are part of the pelvic girdle) http://purl.obolibrary.org/obo/UBERON_0003464 hind limb bone|bone of lower extremity|bone organ of lower extremity|bone organ of hindlimb|bone of hindlimb|bone of inferior member|bone of hind limb|bone organ of hind limb|hindlimb bone organ|hind limb bone organ CHEBI:24839 inorganic salt biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_24839 anorganisches Salz|inorganic salts MONDO:0001642 hordeolum externum biolink:Disease mondo ICD10:H00.03|ICD10:H00.01|SCTID:1489008|UMLS:C0019919|DOID:13134|ICD9:373.11 A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis. SNOMEDCT:1489008|DOID:13134|UMLS:C0019919 http://purl.obolibrary.org/obo/MONDO_0001642 external stye UBERON:0022248 cerebral nerve fasciculus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0022248 telencephalic nerve fascicle|cerebral fascicle|nerve fascicle of telencephalon|telencephalic fascicle|cerebral fasciculus MONDO:0001641 severe pre-eclampsia biolink:Disease mondo COHD:433536|ICD9:642.50|DOID:13129|NCIT:C112843 Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. DOID:13129|NCIT:C112843 http://purl.obolibrary.org/obo/MONDO_0001641 Preeclampsia with severe features|severe preeclampsia|severe pre-eclampsia, with delivery|antepartum severe pre-eclampsia|postpartum severe pre-eclampsia CHEBI:25213 metal cation biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25213 metal cations|a metal cation MONDO:0001640 gonococcal spondylitis biolink:Disease mondo SCTID:53664003|ICD9:098.53|UMLS:C0153219|DOID:13127 An spondylitis caused by infection with Neisseria gonorrhoeae. DOID:13127|SNOMEDCT:53664003|UMLS:C0153219 http://purl.obolibrary.org/obo/MONDO_0001640 CHEBI:25212 metabolite biolink:ChemicalSubstance mondo Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. http://purl.obolibrary.org/obo/CHEBI_25212 secondary metabolites|metabolite|primary metabolites|metabolites MONDO:0001646 benign secondary hypertension biolink:Disease mondo DOID:13143|ICD9:405.19|COHD:314958|UMLS:C0155620|ICD9:405.1|SCTID:194785008 Mild to moderate high blood pressure that is caused by an underlying medical condition. DOID:13143|UMLS:C0155620|SNOMEDCT:194785008|NCIT:C3658 http://purl.obolibrary.org/obo/MONDO_0001646 MONDO:0001645 crescentic glomerulonephritis (disease) biolink:Disease mondo NCIT:C35444|HP:0008653|ICD9:580.4|SCTID:236398000|DOID:13139 A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. NCIT:C35444|SNOMEDCT:236398000|DOID:13139 http://purl.obolibrary.org/obo/MONDO_0001645 crescentic glomerulonephritis UBERON:0010260 umbilical blood vessel biolink:AnatomicalEntity mondo One of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta. http://purl.obolibrary.org/obo/UBERON_0010260 umbilical vessel|allantoic vessel|umbilical cord blood vessel|umbilical vasculature|umbilical cord blood vessels MONDO:0001644 acute proliferative glomerulonephritis biolink:Disease mondo NCIT:C35443|UMLS:C0341692|COHD:259070|SCTID:197579006|DOID:13138|ICD9:580.0 Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus. NCIT:C35443|DOID:13138|SNOMEDCT:197579006|UMLS:C0341692 http://purl.obolibrary.org/obo/MONDO_0001644 proliferative glomerulonephritis, acute|acute glomerulonephritis with lesion of proliferative glomerulonephritis|post-streptococcal glomerulonephritis|post-streptococcal glomerulonephritis MONDO:0001643 exophthalmic ophthalmoplegia biolink:Disease mondo COHD:374359|ICD9:376.22|SCTID:69763009|DOID:13135|UMLS:C0152135 DOID:13135|SNOMEDCT:69763009|UMLS:C0152135 http://purl.obolibrary.org/obo/MONDO_0001643 CHEBI:25216 metalloporphyrin biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25216 metalloporphyrins|metaloporphyrins MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 biolink:Disease mondo OMIM:614207|UMLS:C3280153 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene. http://identifiers.org/omim/614207|UMLS:C3280153 http://purl.obolibrary.org/obo/MONDO_0013628 HPMRS3|hyperphosphatasia with intellectual disability syndrome 3; HPMRS3|mental retardation, autosomal recessive 17|PGAP2 hyperphosphatasia-intellectual disability syndrome|intellectual disability, autosomal recessive 21|hyperphosphatasia with intellectual disability syndrome 3|hyperphosphatasia with mental retardation syndrome 3; HPMRS3|hyperphosphatasia with mental retardation syndrome 3|mental retardation, autosomal recessive 21|hyperphosphatasia with intellectual disability syndrome type 3|glycosylphosphatidylinositol biosynthesis defect 8|intellectual disability, autosomal recessive 17|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2|hyperphosphatasia with mental retardation syndrome type 3 MONDO:0013629 MRT16 biolink:Disease mondo OMIM:614208|UMLS:C3280154 http://identifiers.org/omim/614208|UMLS:C3280154 http://purl.obolibrary.org/obo/MONDO_0013629 intellectual disability, autosomal recessive 16|mental retardation, autosomal recessive 16|MRT16|intellectual disability, autosomal recessive 16; MRT16|mental retardation, autosomal recessive 16; MRT16 MONDO:0013626 psoriasis 14, pustular biolink:Disease mondo ICD9:696.1|OMIM:614204|SCTID:83839005 Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene. SNOMEDCT:83839005|http://identifiers.org/omim/614204 http://purl.obolibrary.org/obo/MONDO_0013626 palmoplantar pustulosis|Psorp|acrodermatitis continua of Hallopeau|generalized pustular psoriasis|psoriasis 14, pustular; PSORS14|IL36RN psoriasis|psoriasis 14, pustular|Interleukin 36 receptor antagonist deficiency|psoriasis caused by mutation in IL36RN|PSORS14 CHEBI:76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor biolink:ChemicalSubstance mondo An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* inhibitors|EC 3.5.1.* inhibitor|EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitor MONDO:0013627 3M syndrome 3 biolink:Disease mondo UMLS:C3280146|OMIM:614205 Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene. UMLS:C3280146|http://identifiers.org/omim/614205 http://purl.obolibrary.org/obo/MONDO_0013627 three M syndrome type 3|three M syndrome 3; 3M3|3M syndrome 3|CCDC8 3-M syndrome|3M3|three M syndrome 3|3-M syndrome caused by mutation in CCDC8 HP:0010442 Polydactyly biolink:PhenotypicFeature mondo Fyler:4103|UMLS:C0152427|MSH:D017689|SNOMEDCT_US:367506006 A congenital anomaly characterized by the presence of supernumerary fingers or toes. http://purl.obolibrary.org/obo/HP_0010442 More than five fingers or toes on hands or feet MONDO:0013631 LNCR5 biolink:Disease mondo OMIM:614210|UMLS:C3280156 UMLS:C3280156|http://identifiers.org/omim/614210 http://purl.obolibrary.org/obo/MONDO_0013631 lung cancer susceptibility 5; LNCR5|LNCR5|lung cancer susceptibility 5 MONDO:0013632 autosomal dominant nonsyndromic deafness 33 biolink:Disease mondo OMIM:614211|ICD10:H90.3|DOID:0110562 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34. DOID:0110562|http://identifiers.org/omim/614211 http://purl.obolibrary.org/obo/MONDO_0013632 autosomal dominant nonsyndromic deafness type 33|deafness, autosomal dominant 33|deafness, autosomal dominant 33; DFNA33|DFNA33|autosomal dominant deafness 33 HGNC:5147 HPD biolink:OntologyClass mondo http://identifiers.org/hgnc/5147 UBERON:0010258 mesenchyme from rhombencephalic neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a rhombencephalon neural crest. http://purl.obolibrary.org/obo/UBERON_0010258 MONDO:0013630 Meckel syndrome, type 9 biolink:Disease mondo UMLS:C3280155|OMIM:614209 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. UMLS:C3280155|http://identifiers.org/omim/614209 http://purl.obolibrary.org/obo/MONDO_0013630 MKS9|Meckel syndrome, type 9; MKS9|B9D1 Meckel syndrome|Meckel syndrome, type 9|Meckel syndrome caused by mutation in B9D1 UBERON:0010259 1st arch mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a 1st arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010259 mesenchyme derived from neural crest of mesenchyme of 1st arch|branchial arch 1 mesenchyme from neural crest|pharyngeal arch 1 mesenchyme from neural crest|neural crest derived arch 1 mesenchyme MONDO:0013635 Adams-Oliver syndrome 2 biolink:Disease mondo OMIM:614219|UMLS:C3280182 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene. UMLS:C3280182|http://identifiers.org/omim/614219 http://purl.obolibrary.org/obo/MONDO_0013635 DOCK6 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in DOCK6|Adams-Oliver syndrome 2; AOS2|AOS2|Adams-Oliver syndrome type 2|Adams-Oliver syndrome 2 MONDO:0013636 primary biliary cholangitis 4 biolink:Disease mondo UMLS:C3280201|OMIM:614220 UMLS:C3280201|http://identifiers.org/omim/614220 http://purl.obolibrary.org/obo/MONDO_0013636 PBC4|biliary cirrhosis, primary, 4|biliary cirrhosis, primary, 4; PBC4 MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 biolink:Disease mondo OMIM:614212 Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene. http://identifiers.org/omim/614212 http://purl.obolibrary.org/obo/MONDO_0013633 encephalopathy, acute, infection-induced caused by mutation in CPT2|CPT2 encephalopathy, acute, infection-induced|encephalopathy, acute, infection-induced, susceptibility to, 4; IIAE4|encephalopathy, acute, infection-induced, susceptibility to, type 4|encephalopathy, acute, infection-induced, susceptibility to, 4|IIAE4 predisposition MONDO:0013634 neuropathy, hereditary sensory, type 2C biolink:Disease mondo DOID:0070147|UMLS:C3280168|OMIM:614213 Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene. UMLS:C3280168|DOID:0070147|http://identifiers.org/omim/614213 http://purl.obolibrary.org/obo/MONDO_0013634 neuropathy, hereditary sensory, type IIC; HSN2C|hereditary sensory neuropathy type 2C|KIF1A hereditary sensory and autonomic neuropathy type 2|neuropathy, hereditary sensory, type IIC|HSN2C|hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A|hereditary sensory neuropathy type IIC MONDO:0001639 deficiency anemia biolink:Disease mondo ICD9:281.9|ICD9:281.8|DOID:13121|UMLS:C0041782|SCTID:267513007 SNOMEDCT:267513007|DOID:13121|UMLS:C0041782 http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemias|unspecified deficiency anemia MONDO:0001638 protein-deficiency anemia biolink:Disease mondo ICD10:D53.0|UMLS:C0154290|DOID:13120|ICD9:281.4|COHD:436083|SCTID:191156009 SNOMEDCT:191156009|DOID:13120|UMLS:C0154290 http://purl.obolibrary.org/obo/MONDO_0001638 anemia due to protein deficiency MONDO:0001637 cicatricial entropion biolink:Disease mondo SCTID:67383002|UMLS:C0155191|ICD9:374.04|COHD:374650|DOID:13113 DOID:13113|UMLS:C0155191|SNOMEDCT:67383002 http://purl.obolibrary.org/obo/MONDO_0001637 MONDO:0001636 mechanical entropion biolink:Disease mondo DOID:13112|ICD9:374.02|COHD:376418|UMLS:C0155189|SCTID:38683003 SNOMEDCT:38683003|DOID:13112|UMLS:C0155189 http://purl.obolibrary.org/obo/MONDO_0001636 HGNC:5141 HP biolink:OntologyClass mondo http://identifiers.org/hgnc/5141 HGNC:5144 HPCA biolink:OntologyClass mondo http://identifiers.org/hgnc/5144 MONDO:0001653 prepuce cancer biolink:Disease mondo DOID:13168|UMLS:C0153598|ICD10:C60.0|SCTID:363450006|ICD9:187.1 A malignant neoplasm involving the prepuce. DOID:13168|SNOMEDCT:363450006|UMLS:C0153598 http://purl.obolibrary.org/obo/MONDO_0001653 cancer of prepuce|prepuce cancer|malignant prepuce neoplasm|malignant neoplasm of foreskin|malignant tumor of foreskin|malignant neoplasm of prepuce MONDO:0001652 scrotum melanoma biolink:Disease mondo DOID:13160|NCIT:C7361|UMLS:C1331544 A melanoma (disease) that involves the scrotum. UMLS:C1331544|DOID:13160|NCIT:C7361 http://purl.obolibrary.org/obo/MONDO_0001652 melanoma (disease) of scrotum|scrotum melanoma (disease)|melanoma of the scrotum|melanoma of scrotum|scrotal melanoma MONDO:0001651 scrotum squamous cell carcinoma biolink:Disease mondo SCTID:276860003|DOID:13159|UMLS:C0349551|NCIT:C4643 A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement. SNOMEDCT:276860003|DOID:13159|UMLS:C0349551|NCIT:C4643 http://purl.obolibrary.org/obo/MONDO_0001651 squamous cell carcinoma of scrotum|scrotum squamous cell carcinoma|scrotal squamous cell carcinoma|squamous cell carcinoma of the scrotum MONDO:0001650 acute cystitis (disease) biolink:Disease mondo ICD9:595.0|UMLS:C0149523|COHD:194081|DOID:13148|SCTID:68226007|NCIT:C26934|ICD10:N30.0 An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain. DOID:13148|UMLS:C0149523|NCIT:C26934|SNOMEDCT:68226007 http://purl.obolibrary.org/obo/MONDO_0001650 urinary tract infection|cystitis, acute|acute cystitis MONDO:0001657 brain cancer biolink:Disease mondo ICD9:191.8|ICD9:191|ICD9:191.9|SCTID:428061005|ICD10:C71|GARD:0009307|CSP:2006-2736|ICD10:C71.9|ICD9:239.6|DOID:1319|MESH:D001932|NCIT:C3568 A primary or metastatic malignant neoplasm affecting the brain. MESH:D001932|DOID:1319|NCIT:C3568|SNOMEDCT:428061005 http://purl.obolibrary.org/obo/MONDO_0001657 neoplasm of brain|cancer of the brain|malignant primary brain neoplasm|neoplasm of unspecified nature of brain|adult malignant brain neoplasm|brain neoplasm, adult|malignant primary brain tumor|malignant tumor of adult brain|malignant brain tumour|brain neoplasms, malignant|malignant neoplasm of brain|brain neoplasm|malignant tumor of brain|brain tumor, adult|primary malignant neoplasm of brain|malignant neoplasm of the brain|malignant brain neoplasm|BT - brain tumour|malignant brain tumor|primary brain neoplasm|adult brain tumor|brain cancer|tumor of the brain|primary brain tumor|cancer of brain|malignant tumor of the brain MONDO:0001656 megaesophagus biolink:Disease mondo NCIT:C34811|UMLS:C0025164|SCTID:70667005|DOID:13186 An abnormal dilation of the esophagus not due to obstruction. UMLS:C0025164|DOID:13186|NCIT:C34811|SNOMEDCT:70667005 http://purl.obolibrary.org/obo/MONDO_0001656 MONDO:0001655 dissociated nystagmus biolink:Disease mondo DOID:13174|ICD10:H55.04|UMLS:C0155380|SCTID:9520006|ICD9:379.55 DOID:13174|SNOMEDCT:9520006|UMLS:C0155380 http://purl.obolibrary.org/obo/MONDO_0001655 dissociated nystagmus MONDO:0001654 spermatic cord cancer biolink:Disease mondo DOID:13169|ICD10:C63.1|NCIT:C3559|ICD9:187.6|UMLS:C0153603|SCTID:363453008 A malignant neoplasm involving the spermatic cord. SNOMEDCT:363453008|DOID:13169|UMLS:C0153603|NCIT:C3559 http://purl.obolibrary.org/obo/MONDO_0001654 malignant neoplasm of the spermatic cord|malignant spermatic cord neoplasm|malignant spermatic cord tumor|cancer of spermatic cord|malignant tumor of the spermatic cord|malignant tumor of spermatic cord|spermatic cord cancer|spermatic cord Ca|malignant neoplasm of spermatic cord CHEBI:76815 EC 2.7.7.* (nucleotidyltransferase) inhibitor biolink:ChemicalSubstance mondo An EC 2.7.* (P-containing group transferase) inhibitor that interferes with the action of any nucleotidyltransferase (EC 2.7.7.*). http://purl.obolibrary.org/obo/CHEBI_76815 inhibitors of nucleotidyltransferases (EC 2.7.7.*)|inhibitors of nucleotidyltransferases|inhibitor of nucleotidyltransferases|nucleotidyltransferase (EC 2.7.7.*) inhibitor|nucleotidyltransferase inhibitor|nucleotidyltransferase inhibitors|EC 2.7.7.* (nucleotidyltransferase) inhibitors|nucleotidyltransferase (EC 2.7.7.*) inhibitors|inhibitor of nucleotidyltransferases (EC 2.7.7.*) MONDO:0013617 overgrowth-macrocephaly-facial dysmorphism syndrome biolink:Disease mondo OMIM:614192|ICD10:Q87.3|Orphanet:137634|SCTID:722122000|UMLS:C3280095 This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism. http://identifiers.org/omim/614192|ORPHA:137634|SNOMEDCT:722122000|UMLS:C3280095 http://purl.obolibrary.org/obo/MONDO_0013617 macrocephaly, macrosomia, and facial dysmorphism syndrome|macrocephaly, macrosomia, and facial dysmorphism syndrome; MMFD|RNF135-related overgrowth syndrome|MMFD ordo_malformation_syndrome UBERON:0010252 1st arch mandibular mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a 1st arch mandibular mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010252 MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome biolink:Disease mondo OMIM:614195|UMLS:C3280099 http://identifiers.org/omim/614195|UMLS:C3280099 http://purl.obolibrary.org/obo/MONDO_0013618 craniofacial anomalies and anterior segment dysgenesis syndrome; CAASDS|CAASDS|craniofacial anomalies and anterior segment dysgenesis syndrome UBERON:0010253 1st arch maxillary mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a 1st arch maxillary mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010253 MONDO:0013615 craniosynostosis and dental anomalies biolink:Disease mondo Orphanet:284149|UMLS:C3280073|OMIM:614188|ICD10:Q87.0 http://identifiers.org/omim/614188|ORPHA:284149|UMLS:C3280073 http://purl.obolibrary.org/obo/MONDO_0013615 Kreiborg-Pakistani syndrome|craniosynostosis and dental anomalies; CRSDA|CRSDA|craniosynostosis and dental anomalies|craniosynostosis-dental anomalies ordo_malformation_syndrome MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 biolink:Disease mondo OMIM:614190|UMLS:C3280094 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene. http://identifiers.org/omim/614190|UMLS:C3280094 http://purl.obolibrary.org/obo/MONDO_0013616 pigmented nodular adrenocortical disease, primary, 3|Cushing syndrome, adrenal, due to PPNAD3|primary pigmented nodular adrenocortical disease caused by mutation in PDE8B|PDE8B primary pigmented nodular adrenocortical disease|pigmented nodular adrenocortical disease, primary, 3; PPNAD3|pigmented nodular adrenocortical disease, primary, type 3|PPNAD3 UBERON:0010256 4th arch mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a 4th arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010256 4th pharyngeal arch mesenchyme derived from neural crest|mesenchyme derived from neural crest of mesenchyme of 4th arch|branchial arch 4 mesenchyme from neural crest|pharyngeal arch 4 mesenchyme from neural crest|neural crest derived arch 4 mesenchyme UBERON:0010257 6th arch mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a 6th arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010257 neural crest derived arch 6 mesenchyme|pharyngeal arch 6 mesenchyme from neural crest|branchial arch 6 mesenchyme from neural crest MONDO:0013619 nephrotic syndrome, type 6 biolink:Disease mondo OMIM:614196|UMLS:C3280100 Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. http://identifiers.org/omim/614196|UMLS:C3280100 http://purl.obolibrary.org/obo/MONDO_0013619 NPHS6|nephrotic syndrome, type 6|PTPRO nephrotic syndrome|nephrotic syndrome, type 6; NPHS6|nephrotic syndrome caused by mutation in PTPRO UBERON:0010254 2nd arch mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a 2nd arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010254 branchial arch 2 mesenchyme from neural crest|pharyngeal arch 2 mesenchyme from neural crest|neural crest derived arch 2 mesenchyme UBERON:0010255 3rd arch mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a 3rd arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010255 3rd pharyngeal arch mesenchyme derived from neural crest|mesenchyme derived from neural crest of mesenchyme of 3rd arch|branchial arch 3 mesenchyme from neural crest|pharyngeal arch 3 mesenchyme from neural crest|neural crest derived arch 3 mesenchyme MONDO:0013620 congenital myasthenic syndrome 16 biolink:Disease mondo DOID:0110682|OMIM:614198 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene. DOID:0110682|http://identifiers.org/omim/614198 http://purl.obolibrary.org/obo/MONDO_0013620 congenital myasthenic syndrome caused by mutation in SCN4A|SCN4A congenital myasthenic syndrome|myasthenic syndrome, congenital, Acetazolamide-responsive|congenital myasthenic syndrome acetazolamide-responsive|myasthenic syndrome, congenital, 16; CMS16|myasthenic syndrome, congenital, type 16|congenital myasthenic syndrome type 16|CMS16|myasthenic syndrome, congenital, 16 HGNC:5157 HPRT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5157 MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome biolink:Disease mondo OMIM:614199|Orphanet:306507|ICD10:N04.8|UMLS:C3280113 LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. UMLS:C3280113|http://identifiers.org/omim/614199|ORPHA:306507 http://purl.obolibrary.org/obo/MONDO_0013621 nephrotic syndrome, type 5, with or without ocular abnormalities; NPHS5|NPHS5|nephrotic syndrome, type 5, with or without ocular abnormalities ordo_disease MONDO:0013624 intellectual disability, autosomal recessive 15 biolink:Disease mondo OMIM:614202|UMLS:C3280127 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene. UMLS:C3280127|http://identifiers.org/omim/614202 http://purl.obolibrary.org/obo/MONDO_0013624 autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1|mental retardation, autosomal recessive 15|mental retardation, autosomal recessive type 15|MAN1B1 autosomal recessive non-syndromic intellectual disability|MRT15|mental retardation, autosomal recessive 15; MRT15 MONDO:0013625 Parkinson disease 17 biolink:Disease mondo UMLS:C3280133|DOID:0060897|OMIM:614203 Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene. UMLS:C3280133|DOID:0060897|http://identifiers.org/omim/614203 http://purl.obolibrary.org/obo/MONDO_0013625 Parkinson disease 17; PARK17|PARK17|Parkinson disease type 17|Parkinson disease caused by mutation in VPS35|Parkinson's disease 17|Parkinson disease 17|autosomal dominant Parkinson disease 17|VPS35 Parkinson disease MONDO:0013622 platelet-type bleeding disorder 9 biolink:Disease mondo ICD10:D69.8|MESH:C566000|OMIM:614200|Orphanet:98886|DOID:0111045 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene. MESH:C566000|DOID:0111045|ORPHA:98886|http://identifiers.org/omim/614200 http://purl.obolibrary.org/obo/MONDO_0013622 bleeding disorder, platelet-type, 9; BDPLT9|inherited bleeding disorder, platelet-type caused by mutation in ITGA2|GP Ia deficiency|collagen platelet receptor deficiency|BDPLT9|ITGA2 inherited bleeding disorder, platelet-type|glycoprotein Ia deficiency|bleeding diathesis due to integrin alpha2-beta1 deficiency|bleeding disorder, platelet-type, 9 ordo_etiological_subtype MONDO:0013623 platelet-type bleeding disorder 11 biolink:Disease mondo Orphanet:98885|UMLS:C3280120|GARD:0013293|ICD10:D69.8|SCTID:765977002|OMIM:614201|DOID:0111057 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene. DOID:0111057|ORPHA:98885|UMLS:C3280120|SNOMEDCT:765977002|http://identifiers.org/omim/614201 http://purl.obolibrary.org/obo/MONDO_0013623 platelet-type bleeding disorder-11|GP VI deficiency|bleeding disorder, platelet-type, 11; BDPLT11|BDPLT11|inherited bleeding disorder, platelet-type caused by mutation in GP6|bleeding disorder, platelet-type, 11|glycoprotein VI deficiency|bleeding diathesis due to glycoprotein VI deficiency|GP6 inherited bleeding disorder, platelet-type|glycoprotein 6 deficiency|GP 6 deficiency ordo_etiological_subtype MONDO:0001649 fungal esophagitis biolink:Disease mondo NCIT:C27107|ICD9:117.9|SCTID:235602008|UMLS:C0341109|DOID:13147 Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing. SNOMEDCT:235602008|DOID:13147|UMLS:C0341109|NCIT:C27107 http://purl.obolibrary.org/obo/MONDO_0001649 fungal esophagitis MONDO:0001648 esophageal candidiasis biolink:Disease mondo NCIT:C27027|ICD9:112.84|UMLS:C0239295|ICD10:B37.81|SCTID:20639004|DOID:13146 Esophagitis resulting from Candida. SNOMEDCT:20639004|DOID:13146|NCIT:C27027|UMLS:C0239295 http://purl.obolibrary.org/obo/MONDO_0001648 esophageal thrush|candidal esophagitis|esophageal moniliasis|candidiasis of the esophagus|Candida esophagitis MONDO:0001647 benign renovascular hypertension biolink:Disease mondo ICD9:405.11|DOID:13145 DOID:13145 http://purl.obolibrary.org/obo/MONDO_0001647 HGNC:5154 HPGD biolink:OntologyClass mondo http://identifiers.org/hgnc/5154 MONDO:0001620 louse-borne relapsing fever biolink:Disease mondo NCIT:C128426|ICD9:087.0|UMLS:C0152061|COHD:443908|ICD10:A68.0|SCTID:14683004|DOID:13035 An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. SNOMEDCT:14683004|DOID:13035|NCIT:C128426|UMLS:C0152061 http://purl.obolibrary.org/obo/MONDO_0001620 Relapsing fever, louse-borne CHEBI:76823 EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor biolink:ChemicalSubstance mondo An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*). http://purl.obolibrary.org/obo/CHEBI_76823 EC 6.3.1.* (acid-ammonia/amine ligase) inhibitors|acid-ammonia (or amine) ligase inhibitors|EC 6.3.1.* inhibitor|EC 6.3.1.* inhibitors|acid-ammonia (or amine) ligase inhibitor MONDO:0001624 acute sphenoidal sinusitis biolink:Disease mondo ICD10:J01.30|DOID:13046|ICD10:J01.3|ICD9:461.3|SCTID:77919000|COHD:137900|UMLS:C0155807 Acute form of sphenoid sinusitis. DOID:13046|SNOMEDCT:77919000|UMLS:C0155807 http://purl.obolibrary.org/obo/MONDO_0001624 sphenoidal sinus -acute|sphenoid sinusitis, acute|acute sphenoid sinusitis MONDO:0001623 cicatricial lagophthalmos (disease) biolink:Disease mondo UMLS:C0155199|HP:0030004|COHD:442113|ICD10:H02.21|ICD9:374.23|DOID:13038 DOID:13038|UMLS:C0155199 http://purl.obolibrary.org/obo/MONDO_0001623 cicatricial lagophthalmos MONDO:0001622 mechanical lagophthalmos biolink:Disease mondo SCTID:21783006|ICD9:374.22|COHD:375268|UMLS:C0155198|ICD10:H02.22|DOID:13037 DOID:13037|UMLS:C0155198|SNOMEDCT:21783006 http://purl.obolibrary.org/obo/MONDO_0001622 MONDO:0001621 tick-borne relapsing fever biolink:Disease mondo NCIT:C34976|ICD9:087.1|SCTID:10301003|ICD10:A68.1|UMLS:C0035022|COHD:438963|DOID:13036 An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. DOID:13036|NCIT:C34976|UMLS:C0035022|SNOMEDCT:10301003 http://purl.obolibrary.org/obo/MONDO_0001621 Relapsing fever, tick-borne MONDO:0013606 Hermansky-Pudlak syndrome 9 biolink:Disease mondo DOID:0060547|UMLS:C3280026|OMIM:614171|ICD10:E70.3|Orphanet:280663 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene. ORPHA:280663|http://identifiers.org/omim/614171|UMLS:C3280026|DOID:0060547 http://purl.obolibrary.org/obo/MONDO_0013606 Hermansky-Pudlak syndrome 9; HPS9|Hermansky-Pudlak syndrome type 9|Hermansky-Pudlak syndrome caused by mutation in BLOC1S6|Hermansky-Pudlak syndrome 9|HPS9|BLOC1S6 Hermansky-Pudlak syndrome ordo_clinical_subtype MONDO:0013607 monocytopenia with susceptibility to infections biolink:Disease mondo UMLS:C3280030|GARD:0010934|ICD10:D72.8|Orphanet:228423|OMIM:614172 http://identifiers.org/omim/614172|ORPHA:228423|UMLS:C3280030 http://purl.obolibrary.org/obo/MONDO_0013607 monocyte-B-natural killer-dendritic cell deficiency syndrome|combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections|immunodeficiency type 21|immunodeficiency 21|immunodeficiency 21; IMD21|monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia|Dendritic cell, monocyte, B and NK lymphoid deficiency|monocytopenia and mycobacterial infection syndrome|DCML|GATA2 deficiency|combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections|monocyte - B - natural killer - dendritic cell deficiency|MonoMAC|Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency|IMD21 ordo_disease|predisposition MONDO:0013604 myopia 21, autosomal dominant biolink:Disease mondo UMLS:C3279997|OMIM:614167 Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene. http://identifiers.org/omim/614167|UMLS:C3279997 http://purl.obolibrary.org/obo/MONDO_0013604 ZNF644 myopia (disease)|MYP21|myopia (disease) caused by mutation in ZNF644|myopia 21, autosomal dominant|myopia 21, autosomal dominant; MYP21 MONDO:0013605 brittle cornea syndrome 2 biolink:Disease mondo OMIM:614170|UMLS:C3280011 Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene. http://identifiers.org/omim/614170|UMLS:C3280011 http://purl.obolibrary.org/obo/MONDO_0013605 brittle cornea syndrome type 2|PRDM5 brittle cornea syndrome|brittle cornea syndrome 2|brittle cornea syndrome caused by mutation in PRDM5|BCS2|brittle cornea syndrome 2; BCS2 NCBITaxon:119225 Protomacleaya organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_119225 MONDO:0013608 Joubert syndrome 13 biolink:Disease mondo DOID:0110982|UMLS:C3280031|OMIM:614173 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene. DOID:0110982|http://identifiers.org/omim/614173|UMLS:C3280031 http://purl.obolibrary.org/obo/MONDO_0013608 Joubert syndrome 13|Joubert syndrome 13; JBTS13|JBTS13|TCTN1 Joubert syndrome|Joubert syndrome type 13|Joubert syndrome caused by mutation in TCTN1 UBERON:0010243 merocrine gland biolink:AnatomicalEntity mondo An exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged. http://purl.obolibrary.org/obo/UBERON_0010243 MONDO:0013609 Meckel syndrome, type 10 biolink:Disease mondo OMIM:614175|UMLS:CN620433|GTR:AN1012610|UMLS:C3280036|GTR:AN1012156 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. http://identifiers.org/omim/614175|UMLS:CN620433|UMLS:C3280036 http://purl.obolibrary.org/obo/MONDO_0013609 B9D2 Meckel syndrome|Meckel syndrome, type 10; MKS10|Meckel syndrome, type 10|MKS10|Meckel syndrome caused by mutation in B9D2|JBTS34|Joubert syndrome 34 MONDO:0013610 retinitis pigmentosa 61 biolink:Disease mondo DOID:0110373|OMIM:614180|UMLS:C3280041|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene. DOID:0110373|UMLS:C3280041|http://identifiers.org/omim/614180 http://purl.obolibrary.org/obo/MONDO_0013610 retinitis pigmentosa caused by mutation in CLRN1|retinitis pigmentosa 61|RP61|retinitis pigmentosa type 61|retinitis pigmentosa 61; RP61|CLRN1 retinitis pigmentosa MONDO:0013613 Leber congenital amaurosis 16 biolink:Disease mondo UMLS:C3280062|ICD10:H35.5|GARD:0010885|DOID:0110118|OMIM:614186 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene. DOID:0110118|UMLS:C3280062|http://identifiers.org/omim/614186 http://purl.obolibrary.org/obo/MONDO_0013613 Leber congenital amaurosis 16|KCNJ13 Leber congenital amaurosis|Leber congenital amaurosis 16; LCA16|Leber congenital amaurosis caused by mutation in KCNJ13|LCA16|Leber congenital amaurosis type 16 gard_rare MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome biolink:Disease mondo UMLS:C3280065|OMIM:614187|Orphanet:293958 UMLS:C3280065|ORPHA:293958|http://identifiers.org/omim/614187 http://purl.obolibrary.org/obo/MONDO_0013614 hypertelorism, preauricular sinus, punctal pits, and deafness|HPPD|hypertelorism, preauricular sinus, punctal pits, and deafness; HPPD|hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome ordo_malformation_syndrome MONDO:0013611 retinitis pigmentosa 62 biolink:Disease mondo DOID:0110380|UMLS:C3280042|OMIM:614181|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene. DOID:0110380|UMLS:C3280042|http://identifiers.org/omim/614181 http://purl.obolibrary.org/obo/MONDO_0013611 retinitis pigmentosa caused by mutation in MAK|retinitis pigmentosa type 62|MAK retinitis pigmentosa|retinitis pigmentosa 62; RP62|retinitis pigmentosa 62|RP62 MONDO:0013612 Geleophysic dysplasia 2 biolink:Disease mondo UMLS:C3280054|OMIM:614185 Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene. UMLS:C3280054|http://identifiers.org/omim/614185 http://purl.obolibrary.org/obo/MONDO_0013612 GPHYSD2|FBN1 geleophysic dysplasia|geleophysic dysplasia caused by mutation in FBN1|Geleophysic dysplasia type 2|Geleophysic dysplasia 2|GELEOPHYSIC dysplasia 2; GPHYSD2 MONDO:0001617 transient global amnesia (disease) biolink:Disease mondo ICD9:437.7|DOID:13027|MESH:D020236|ICD10:G45.4|NCIT:C85198|HP:0010534|GARD:0008172|COHD:437306 A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event. MESH:D020236|DOID:13027|NCIT:C85198 http://purl.obolibrary.org/obo/MONDO_0001617 transient global amnesia MONDO:0001616 lobomycosis biolink:Disease mondo MESH:D060368|ICD9:116.2|DOID:13026|UMLS:C0152066|SCTID:47306003|ICD10:B48.0|EFO:1001805 A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol. UMLS:C0152066|MESH:D060368|SNOMEDCT:47306003|DOID:13026 http://purl.obolibrary.org/obo/MONDO_0001616 cutaneous blastomycosis|infection by Loboa loboi|cutaneous lobomycosis UBERON:0022276 splenic flexure of colon biolink:AnatomicalEntity mondo The splenic (or left colic) flexure is a sharp bend between the transverse and the descending colon in the left upper quadrant of humans. The left colic flexure is near the spleen, and hence called the splenic flexure. There are two colic flexures in the transverse colon — the other being the hepatic flexure in the right upper quadrant. http://purl.obolibrary.org/obo/UBERON_0022276 splenic flexure of colon|flexura coli splenica|splenic flexure|left colic flexure|left colic flexure MONDO:0001615 epidemic keratoconjunctivitis biolink:Disease mondo NCIT:C34590|DOID:13014|SCTID:60548004|COHD:378361|ICD10:B30.0|UMLS:C0014493|ICD9:077.1 Keratoconjunctivitis resulting from infection by adenoviruses. UMLS:C0014493|SNOMEDCT:60548004|NCIT:C34590|DOID:13014 http://purl.obolibrary.org/obo/MONDO_0001615 EKC|shipyard eye MONDO:0001614 intra-abdominal lymph node mast cell malignancy biolink:Disease mondo DOID:13005|ICD9:202.63|SCTID:188664008|UMLS:C0153844 UMLS:C0153844|SNOMEDCT:188664008|DOID:13005 http://purl.obolibrary.org/obo/MONDO_0001614 mast cell malignancy of intra-abdominal lymph nodes|malignant mast cell tumors involving intra-abdominal lymph nodes UBERON:0022275 colic flexure biolink:AnatomicalEntity mondo A sharp bend between consecutive segments of the colon. http://purl.obolibrary.org/obo/UBERON_0022275 flexura coli HGNC:5163 HPS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5163 UBERON:0022278 nucleus of pudendal nerve biolink:AnatomicalEntity mondo A nucleus in the ventral part of the anterior horn of the sacral region of the spinal cord that is the origin of the pudendal nerve. http://purl.obolibrary.org/obo/UBERON_0022278 pudendal neural nucleus|Onuf's nucleus|nucleus of Onuf UBERON:0022277 hepatic flexure of colon biolink:AnatomicalEntity mondo Hepatic (or the right colic) flexure is the sharp bend between the ascending and the transverse colon. The right colic flexure is adjacent to the liver, and is therefore also known as the hepatic flexure. Thus, the left colic flexure is also known as the splenic flexure (as it is close to the spleen). The hepatic flexure lies in the right upper quadrant of the abdomen in humans. http://purl.obolibrary.org/obo/UBERON_0022277 hepatic flexure of colon|right colic flexure|flexura coli heaptica|right colic flexure|hepatic flexure HGNC:5166 HPV18I1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5166 MONDO:0001619 obsolete relapsing fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001619 UBERON:0022279 strand of hair on external ear biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0022279 hair of external ear|tragus hair|hair of tragus MONDO:0001618 balanoposthitis biolink:Disease mondo ICD10:N47.6|COHD:436466|SCTID:46090001|UMLS:C0004691|DOID:13031|ICD9:607.1 UMLS:C0004691|DOID:13031|SNOMEDCT:46090001 http://purl.obolibrary.org/obo/MONDO_0001618 HGNC:5167 HPV18I2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5167 MONDO:0001631 vertebral artery insufficiency biolink:Disease mondo NCIT:C35123|DOID:13095|ICD9:435.1|COHD:434656|UMLS:C0042560|SCTID:34781003 A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction. NCIT:C35123|UMLS:C0042560|DOID:13095|SNOMEDCT:34781003 http://purl.obolibrary.org/obo/MONDO_0001631 vertebral artery syndrome MONDO:0001630 branch retinal artery occlusion biolink:Disease mondo UMLS:C0006123|DOID:13094|NCIT:C34436|ICD9:362.32|COHD:437544|SCTID:50821009|ICD10:H34.23 An occlusion of a branch of the retinal artery. NCIT:C34436|SNOMEDCT:50821009|DOID:13094|UMLS:C0006123 http://purl.obolibrary.org/obo/MONDO_0001630 retinal arterial branch occlusion|arterial retinal branch occlusion CHEBI:76835 EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor biolink:ChemicalSubstance mondo An EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor that uses NAD(+) or NADP(+) as acceptor (EC 1.1.1.*). http://purl.obolibrary.org/obo/CHEBI_76835 oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitors|EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+)acceptor) inhibitors|EC 1.1.1.* inhibitor|EC 1.1.1.* inhibitors|oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitor CHEBI:27869 chloroacetic acid biolink:ChemicalSubstance mondo A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent. http://purl.obolibrary.org/obo/CHEBI_27869 monochloroacetic acid|alpha-chloro-acetic acid|chloracetic acid|Acide monochloracetique|Acide chloroacetique|2-chloro-acetic acid|Chloroethanoic acid|CAA|2-chloroacetic acid|monochloroethanoic acid|Chloroacetic acid|chloroacetic acid|Monochloressigsaeure|2-chloro-ethanoic acid|Acide chloracetique CHEBI:76838 EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor biolink:ChemicalSubstance mondo An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any such enzyme incorporating one atom of oxygen and using reduced flavin or flavoprotein as donor (EC 1.14.14.*). http://purl.obolibrary.org/obo/CHEBI_76838 EC 1.14.14.* inhibitors|EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|EC 1.14.14.* inhibitor|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitors|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitor|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor MONDO:0001635 bladder squamous papilloma biolink:Disease mondo DOID:13110|NCIT:C39834|UMLS:C1511199 A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium. UMLS:C1511199|DOID:13110|NCIT:C39834 http://purl.obolibrary.org/obo/MONDO_0001635 bladder squamous papilloma MONDO:0001634 bladder leiomyoma biolink:Disease mondo NCIT:C6178|DOID:13109|UMLS:C1332560 A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. UMLS:C1332560|DOID:13109|NCIT:C6178 http://purl.obolibrary.org/obo/MONDO_0001634 leiomyoma of the urinary bladder|leiomyoma of the bladder|leiomyoma of bladder|bladder leiomyoma|leiomyoma of urinary bladder|urinary bladder leiomyoma MONDO:0001633 central retinal artery occlusion biolink:Disease mondo SCTID:38742007|COHD:437540|UMLS:C0007688|DOID:13098|ICD10:H34.1|NCIT:C34456|ICD9:362.31 Blockage of the central retinal artery. NCIT:C34456|DOID:13098|SNOMEDCT:38742007|UMLS:C0007688 http://purl.obolibrary.org/obo/MONDO_0001633 central retinal arterial occlusion MONDO:0001632 intracranial arteriosclerosis biolink:Disease mondo UMLS:C0007771|DOID:13097|MESH:D002537 Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis. MESH:D002537|DOID:13097|UMLS:C0007771 http://purl.obolibrary.org/obo/MONDO_0001632 CHEBI:76837 EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor biolink:ChemicalSubstance mondo An EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor that inhibits the action of any oxidoreductase incorporating 2 atoms of oxygen (EC 1.13.11.*). http://purl.obolibrary.org/obo/CHEBI_76837 EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitors|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitor|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitor|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitors|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitors|EC 1.13.11.* inhibitor|EC 1.13.11.* inhibitors UBERON:0010230 eyeball of camera-type eye biolink:AnatomicalEntity mondo The core globe-shaped component of the camera-type eye. http://purl.obolibrary.org/obo/UBERON_0010230 eyeball|eye globe|eye|globe|bulbus oculi UBERON:0010231 anatomical line between outer ears biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010231 otic line|inter-otic line|inter-pinna line OBO:cl#has_high_plasma_membrane_amount has_high_plasma_membrane_amount biolink:OntologyClass mondo A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount UBERON:0010235 uvular muscle biolink:AnatomicalEntity mondo The musculus uvulae (azygos uvulae) is a muscle of the soft palate. It arises from the posterior nasal spine of the palatine bones and from the palatine aponeurosis. It descends to be inserted into the uvula and functions to move and shape it. It is innervated by the pharyngeal branch of the vagus nerve via the pharyngeal plexus[WP]. http://purl.obolibrary.org/obo/UBERON_0010235 uvulae muscle|musculus uvulae muscle|azygos uvulae|musculus uvulae|uvular muscle|m. uvulae UBERON:0010233 stroma of thyroid gland biolink:AnatomicalEntity mondo The connective tissue that supports the lobules and follicles of the thyroid gland. http://purl.obolibrary.org/obo/UBERON_0010233 thyroid gland stroma|thyroid stroma UBERON:0010227 future cardiac atrium biolink:AnatomicalEntity mondo Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. http://purl.obolibrary.org/obo/UBERON_0010227 primordial cardiac atrium|primordial atrium|presumptive atrium heart tube UBERON:0010225 thalamic complex biolink:AnatomicalEntity mondo A nuclear complex which in mammals consists of four parts, the hypothalamus, epithalamus, ventral thalamus, and dorsal thalamus[WP,modified]. http://purl.obolibrary.org/obo/UBERON_0010225 MONDO:0013602 paragangliomas 5 biolink:Disease mondo UMLS:C3279992|OMIM:614165 Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene. http://identifiers.org/omim/614165|UMLS:C3279992 http://purl.obolibrary.org/obo/MONDO_0013602 paragangliomas type 5|paragangliomas 5|PGL5|paraganglioma caused by mutation in SDHA|SDHA paraganglioma|paragangliomas 5; PGL5 MONDO:0013603 MYP20 biolink:Disease mondo UMLS:C3279996|OMIM:614166 http://identifiers.org/omim/614166|UMLS:C3279996 http://purl.obolibrary.org/obo/MONDO_0013603 MYP20|myopia 20, autosomal dominant|myopia 20, autosomal dominant; MYP20 MONDO:0013600 insomnia (disease) biolink:Disease mondo ICD9:780.52|ICD10:G47.0|MESH:D007319|HP:0100785|NCIT:C28286|SCTID:193462001|EFO:0004698|OMIM:614163 A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep. SNOMEDCT:193462001|MESH:D007319|NCIT:C28286|http://identifiers.org/omim/614163 http://purl.obolibrary.org/obo/MONDO_0013600 delayed sleep phase syndrome, susceptibility to; DSPS|DSPD|insomnia|DSPS|delayed sleep phase disorder, susceptibility to|delayed sleep phase syndrome, susceptibility to|delayed sleep phase disorder, susceptibility to; DSPD MONDO:0013601 gluthathione peroxidase deficiency biolink:Disease mondo UMLS:C0398747|SCTID:234590006|OMIM:614164 http://identifiers.org/omim/614164|UMLS:C0398747|SNOMEDCT:234590006 http://purl.obolibrary.org/obo/MONDO_0013601 gluthathione peroxidase deficiency|GPXD|glutathione peroxidase deficiency; GPXD|glutathione peroxidase deficiency MONDO:0001628 tinea unguium biolink:Disease mondo UMLS:C0040261|MESH:D014009|UMLS:C0157701|NCIT:C112214|UMLS:C0157698|UMLS:C0157696|DOID:13074|ICD10:B35.1|UMLS:C4082762|UMLS:C0157691|UMLS:C0157690|ICD9:681.9 A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds. UMLS:C4082762|MESH:D014009|DOID:13074|UMLS:C0040261|UMLS:C0157701|UMLS:C0157696|UMLS:C0157698|UMLS:C0157690|UMLS:C0157691|NCIT:C112214 http://purl.obolibrary.org/obo/MONDO_0001628 cellulitis and abscess of finger and toe|cellulitis and abscess of finger|cellulitis and abscess of gluteal region|dermatophytosis of nail|cellulitis and abscess|cellulitis and abscess of upper arm and forearm|dermatophytic onychomycosis|cellulitis and abscess of buttock|cellulitis and abscess of trunk|onychomycosis|nail dermatophytosis|onychomycosis due to dermatophyte|tinea unguium|dermatophytic onychia|cellulitis and abscess of face MONDO:0001627 dementia (disease) biolink:Disease mondo DOID:1307|GARD:0011946|ICD9:294.8|NCIT:C4786|ICD9:294.1|COHD:4182210|SCTID:52448006|ICD9:290.8|MESH:D003704 Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. NCIT:C4786|MESH:D003704|SNOMEDCT:52448006|DOID:1307 http://purl.obolibrary.org/obo/MONDO_0001627 dementia HGNC:5172 HR biolink:OntologyClass mondo http://identifiers.org/hgnc/5172 UBERON:0022284 lacrimal gland bud biolink:AnatomicalEntity mondo the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation (Int Rev Cytol. 1996;168:1-80. Cell biology of the harderian gland) http://purl.obolibrary.org/obo/UBERON_0022284 MONDO:0001626 traumatic glaucoma biolink:Disease mondo ICD9:365.65|SCTID:68241007|DOID:13060|UMLS:C0339594|COHD:440396 UMLS:C0339594|SNOMEDCT:68241007|DOID:13060 http://purl.obolibrary.org/obo/MONDO_0001626 glaucoma associated with ocular trauma HGNC:5173 HRAS biolink:OntologyClass mondo http://identifiers.org/hgnc/5173 UBERON:0022287 tear film biolink:AnatomicalEntity mondo An aqueous substance that covers the anterior surface of the eyeball, keeping the cornea wet. http://purl.obolibrary.org/obo/UBERON_0022287 precorneal film MONDO:0001625 corpus luteum cyst biolink:Disease mondo SCTID:386762009|ICD10:N83.1|COHD:436164|DOID:13050|ICD9:620.1 A ovarian cyst (disease) that involves the corpus luteum. DOID:13050|SNOMEDCT:386762009 http://purl.obolibrary.org/obo/MONDO_0001625 corpus luteum ovarian cyst (disease)|ovarian cyst (disease) of corpus luteum UBERON:0022288 surface of eyeball biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0022288 surface of region of wall of eyeball MONDO:0001629 Jaccoud syndrome biolink:Disease mondo ICD9:714.4|COHD:72994|ICD10:M12.00|UMLS:C0152084|SCTID:84801008|ICD10:M12.0|DOID:13080 SNOMEDCT:84801008|UMLS:C0152084|DOID:13080 http://purl.obolibrary.org/obo/MONDO_0001629 Jaccoud's syndrome|Jaccoud syndrome MONDO:0001686 anatomical narrow angle borderline glaucoma biolink:Disease mondo DOID:13327|ICD9:365.02 DOID:13327 http://purl.obolibrary.org/obo/MONDO_0001686 MONDO:0001685 chronic follicular conjunctivitis biolink:Disease mondo DOID:13326|COHD:372318|ICD10:H10.43|UMLS:C0155147|SCTID:39429002|ICD9:372.12 SNOMEDCT:39429002|DOID:13326|UMLS:C0155147 http://purl.obolibrary.org/obo/MONDO_0001685 MONDO:0001684 exocrine pancreatic insufficiency biolink:Disease mondo DOID:13316|ICD10:K86.81|UMLS:C0267963|MESH:D010188|ICD9:577.8|SCTID:47367009|NCIT:C84316 Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders. NCIT:C84316|SNOMEDCT:47367009|UMLS:C0267963|DOID:13316|MESH:D010188 http://purl.obolibrary.org/obo/MONDO_0001684 exocrine pancreas insufficiency|pancreatic insufficiency|exocrine pancreatic insufficiency MONDO:0001683 pancreatic mucinous ductal ectasia biolink:Disease mondo NCIT:C5717|DOID:13313|UMLS:C1335310 UMLS:C1335310|NCIT:C5717|DOID:13313 http://purl.obolibrary.org/obo/MONDO_0001683 MONDO:0001689 hypertrophy of tongue papillae biolink:Disease mondo COHD:432345|ICD10:K14.3|DOID:13333|UMLS:C0392494|SCTID:6971002|ICD9:529.3 DOID:13333|UMLS:C0392494|SNOMEDCT:6971002 http://purl.obolibrary.org/obo/MONDO_0001689 tongue papillary hypertrophy MONDO:0001688 toxic optic neuropathy biolink:Disease mondo ICD10:H46.3|UMLS:C0155303|ICD9:377.34|COHD:377570|SCTID:26125006|DOID:13329 UMLS:C0155303|SNOMEDCT:26125006|DOID:13329 http://purl.obolibrary.org/obo/MONDO_0001688 MONDO:0001687 diabetic cataract biolink:Disease mondo DOID:13328|UMLS:C0011876|ICD10:H28.0|ICD9:366.41|COHD:376979|SCTID:43959009 SNOMEDCT:43959009|UMLS:C0011876|DOID:13328 http://purl.obolibrary.org/obo/MONDO_0001687 cataract - diabetic HGNC:5181 HRG biolink:OntologyClass mondo http://identifiers.org/hgnc/5181 MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers biolink:Disease mondo UMLS:C1832665|OMIM:601170|MESH:C563378 UMLS:C1832665|MESH:C563378|http://identifiers.org/omim/601170 http://purl.obolibrary.org/obo/MONDO_0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome biolink:Disease mondo OMIM:601165|UMLS:C2931750|MESH:C538160|ICD10:Q87.8|Orphanet:2001|SCTID:719456001|GARD:0003430 Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. SNOMEDCT:719456001|UMLS:C2931750|http://identifiers.org/omim/601165|ORPHA:2001|MESH:C538160 http://purl.obolibrary.org/obo/MONDO_0011008 McPherson Clemens syndrome|McPherson-Clemens syndrome|cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease|cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease ordo_malformation_syndrome MONDO:0001682 diphtheritic peritonitis biolink:Disease mondo UMLS:C0152953|DOID:13310|ICD10:A36.89|SCTID:13596001|ICD9:032.83 A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. SNOMEDCT:13596001|UMLS:C0152953|DOID:13310 http://purl.obolibrary.org/obo/MONDO_0001682 MONDO:0001681 diphtheritic cystitis biolink:Disease mondo SCTID:48278001|ICD9:032.84|ICD10:A36.85|UMLS:C0152954|DOID:13306 A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. SNOMEDCT:48278001|UMLS:C0152954|DOID:13306 http://purl.obolibrary.org/obo/MONDO_0001681 MONDO:0001680 vaginal mullerian papilloma biolink:Disease mondo DOID:133|NCIT:C40255|UMLS:C1519926 A benign papilloma that arises from the vagina in infants and young women. UMLS:C1519926|NCIT:C40255|DOID:133 http://purl.obolibrary.org/obo/MONDO_0001680 vaginal Müllerian papilloma|vaginal Muellerian papilloma|vaginal Mullerian papilloma MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 biolink:Disease mondo Orphanet:401874|UMLS:C3280378|OMIM:614299|ICD10:E88.8|DOID:0080134 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene. UMLS:C3280378|http://identifiers.org/omim/614299|ORPHA:401874|DOID:0080134 http://purl.obolibrary.org/obo/MONDO_0013675 multiple mitochondrial dysfunctions syndrome 2; MMDS2|multiple mitochondrial dysfunctions syndrome type 2|BOLA3 fatal multiple mitochondrial dysfunctions syndrome|BOLA3 deficiency|MMDS2|multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia; MMDS2|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3|multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia|multiple mitochondrial dysfunctions syndrome 2 ordo_disease MONDO:0011012 African iron overload biolink:Disease mondo ICD10:E83.1|OMIM:601195|DOID:0111033|MESH:C537904|SCTID:66576001|Orphanet:139507|GARD:0008495 African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis. SNOMEDCT:66576001|ORPHA:139507|http://identifiers.org/omim/601195|DOID:0111033|MESH:C537904 http://purl.obolibrary.org/obo/MONDO_0011012 hereditary iron overload and African Americans|African iron overload|iron overload in Africa|iron overload in Africa|Bantu siderosis ordo_disease MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome biolink:Disease mondo GARD:0000350|Orphanet:1858|SCTID:715428003|UMLS:C0796046|ICD10:Q87.5|OMIM:601187|MESH:C537625 Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. SNOMEDCT:715428003|UMLS:C0796046|http://identifiers.org/omim/601187|MESH:C537625|ORPHA:1858 http://purl.obolibrary.org/obo/MONDO_0011011 GURRIERI syndrome|Gurrieri-Sammito-Bellussi syndrome|intellectual disability, epilepsy, short stature and skeletal dysplasia|mental retardation, epilepsy, short stature and skeletal dysplasia ordo_malformation_syndrome MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency biolink:Disease mondo DOID:0111038|OMIM:611094|Orphanet:289290|UMLS:C3280381|UMLS:C1970196|MESH:C567015|OMIM:614300|ICD10:E72.1 Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. ORPHA:289290|UMLS:C3280381|http://identifiers.org/omim/614300|UMLS:C1970196|MESH:C567015|http://identifiers.org/omim/611094|DOID:0111038 http://purl.obolibrary.org/obo/MONDO_0013676 mental retardation, autosomal recessive 8; MRT8|hypermethioninemia encephalopathy due to ADK deficiency|mental retardation, autosomal recessive 8|hypermethioninemia due to adenosine kinase deficiency|autosomal recessive intellectual disability 8|MRT8|mental retardation, autosomal recessive 8, formerly|autosomal recessive mental retardation 8|hypermethioninemia encephalopathy due to adenosine kinase deficiency|ADK hypermethioninemia ordo_disease MONDO:0013673 Wolfram-like syndrome biolink:Disease mondo UMLS:C3280358|Orphanet:411590|UMLS:C4518338|EFO:0009063|MESH:C565631|SCTID:734022008|ICD10:E13.8|OMIM:614296 Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. UMLS:C3280358|UMLS:C4518338|http://identifiers.org/omim/614296|ORPHA:411590|MESH:C565631|SNOMEDCT:734022008 http://purl.obolibrary.org/obo/MONDO_0013673 WOLFRAM-like syndrome, autosomal dominant|hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation|WFSL|WOLFRAM-like syndrome, autosomal dominant; WFSL ordo_disease MONDO:0011014 pleuropulmonary blastoma biolink:Disease mondo ICDO:8973/3|Orphanet:64742|ONCOTREE:PPB|MESH:C537516|ICD10:C34.9|ICD9:162.9|OMIM:601200|NCIT:C5669|DOID:4769|UMLS:CN072455|EFO:0009052|ICD10:C34.3|GARD:0008757|ICD10:C34.2|SCTID:707670009|ICD10:C34.1|UMLS:C1266144 A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. NCIT:C5669|http://identifiers.org/omim/601200|ORPHA:64742|SNOMEDCT:707670009|UMLS:C1266144|MESH:C537516|UMLS:CN072455|DOID:4769 http://purl.obolibrary.org/obo/MONDO_0011014 pleuropulmonary blastoma (morphologic abnormality)|pediatric pulmonary blastoma|pediatric pulmonary blastoma|PPB|pleuropulmonary blastoma; PPB|pulmonary blastoma of childhood|PPB familial tumor and dysplasia syndrome|pleuropulmonary blastoma|childhood pulmonary blastoma ordo_disease|clingen MONDO:0011013 autosomal dominant hypocalcemia 1 biolink:Disease mondo OMIM:601198|DOID:0090107 Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene. http://identifiers.org/omim/601198|DOID:0090107 http://purl.obolibrary.org/obo/MONDO_0011013 hypocalcemia, autosomal dominant 1; HYPOC1|CASR autosomal dominant hypocalcemia|HYPOC1|autosomal dominant hypocalcemia type 1|hypocalcemia, autosomal dominant 1, with Bartter syndrome|hypocalcemia, familial|hypocalcemia, autosomal dominant type 1|hypocalcemia, autosomal dominant 1|autosomal dominant hypocalcemia caused by mutation in CASR|hypercalciuric hypocalcemia MONDO:0013674 neurodegeneration with brain iron accumulation 4 biolink:Disease mondo ICD10:G23.0|Orphanet:289560|ICD9:333.0|OMIM:614298|UMLS:C3280371|DOID:0110738|SCTID:709415008|GARD:0012569 Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. DOID:0110738|UMLS:C3280371|ORPHA:289560|http://identifiers.org/omim/614298|SNOMEDCT:709415008 http://purl.obolibrary.org/obo/MONDO_0013674 mitochondrial membrane protein-associated neurodegeneration|C19orf12 neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation 4; NBIA4|neurodegeneration with brain iron accumulation type 4|neurodegeneration with brain iron accumulation due to C19orf12 mutation|neurodegeneration with brain iron accumulation 4|NBIA due to C19orf12 mutation|MPAN|mitochondrial Protein-associated neurodegeneration|NBIA4|neurodegeneration with brain iron accumulation caused by mutation in C19orf12 ordo_disease MONDO:0013679 sclerosteosis 2 biolink:Disease mondo OMIM:614305|DOID:0060757|UMLS:C3280402|ICD10:M85.2 Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene. UMLS:C3280402|DOID:0060757|http://identifiers.org/omim/614305 http://purl.obolibrary.org/obo/MONDO_0013679 sclerosteosis 2; SOST2|sclerosteosis caused by mutation in LRP4|SOST2|sclerosteosis 2|LRP4 sclerosteosis|sclerosteosis type 2 MONDO:0011016 type 1 diabetes mellitus 11 biolink:Disease mondo MESH:C563371|DOID:0110750|ICD10:E10|UMLS:C1832605|OMIM:601208 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31. DOID:0110750|MESH:C563371|http://identifiers.org/omim/601208|UMLS:C1832605 http://purl.obolibrary.org/obo/MONDO_0011016 IDDM11|diabetes mellitus, insulin-dependent, 11|diabetes mellitus, insulin-dependent, 11; IDDM11|insulin-dependent diabetes mellitus 11 CHEBI:15841 polypeptide biolink:ChemicalSubstance mondo A peptide containing ten or more amino acid residues. http://purl.obolibrary.org/obo/CHEBI_15841 Polypeptide|polypeptides|Polypeptid|polipeptido MONDO:0011015 cataract 24 biolink:Disease mondo MESH:C537774|DOID:0110257|ICD10:Q12.0|UMLS:C1832609|OMIM:601202 A cataract that has material basis in variation in the region 17p13. DOID:0110257|http://identifiers.org/omim/601202|UMLS:C1832609|MESH:C537774 http://purl.obolibrary.org/obo/MONDO_0011015 cataract 24, anterior polar|CTRCT24|anterior polar cataract 24|cataract type 24|cataract, anterior polar, 2|CTAA2|cataract 24; CTRCT24|cataract 24|anterior polar cataract 2 MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome biolink:Disease mondo DOID:0090143|Orphanet:2899|GARD:5478|OMIM:601216|GARD:0005478|ICD10:Q76.3|SCTID:716195006 Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. DOID:0090143|http://identifiers.org/omim/601216|SNOMEDCT:716195006|ORPHA:2899 http://purl.obolibrary.org/obo/MONDO_0011018 skeletal dysplasia with amelogenesis imperfecta and platyspondyly|DASS|Verloes-Bourguignon syndrome|dental anomalies and short stature|STHAG6|DASS|dental anomalies and short stature|amelogenesis imperfecta and platyspondyly|selective tooth agenesis 5|tooth agenesis, selective, 6|platyspondyly-amelogenesis imperfecta syndrome|platyspondyly with amelogenesis imperfecta|dental anomalies and short stature; DASS|Verloes Bourguignon syndrome|tooth agenesis, selective, 6, formerly ordo_malformation_syndrome MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant biolink:Disease mondo DOID:0070252|UMLS:C3553060|OMIM:614302 Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene. UMLS:C3553060|DOID:0070252|http://identifiers.org/omim/614302 http://purl.obolibrary.org/obo/MONDO_0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant|EDMD7|TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy|EMERY-Dreifuss muscular dystrophy 7, autosomal dominant; EDMD7|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43 MONDO:0013678 EDICT syndrome biolink:Disease mondo UMLS:C3280392|Orphanet:293936|SCTID:722439009|OMIM:614303 EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. UMLS:C3280392|ORPHA:293936|http://identifiers.org/omim/614303|SNOMEDCT:722439009 http://purl.obolibrary.org/obo/MONDO_0013678 autosomal dominant keratoconus with early-onset anterior polar cataracts|EDICT syndrome|keratoconus with cataract|EDICT syndrome; EDICT|endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|KTCNCT|EDICT|endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome|keratoconus, familial, with early-onset anterior polar cataract|familial keratoconus with cataract ordo_disease MONDO:0011017 Naxos disease biolink:Disease mondo MESH:C538346|ICD10:Q87.8|SCTID:715535009|Orphanet:34217|UMLS:C1832600|GARD:0009795|OMIM:601214 Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. ORPHA:34217|http://identifiers.org/omim/601214|SNOMEDCT:715535009|MESH:C538346|UMLS:C1832600 http://purl.obolibrary.org/obo/MONDO_0011017 palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair|keratoderma with woolly hair type I|keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair|Naxos disease|Mal De Naxos|NAXOS disease; NXD|woolly hair, palmoplantar keratoderma, and Cardiac abnormalities|KWWH type I|keratosis palmoplantaris with arrythmogenic cardiomyopathy|palmoplantar keratoderma with arrythmogenic cardiomyopathy|keratosis palmoplantaris with arrhythmogenic cardiomyopathy|NXD|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|woolly hair palmoplantar keratoderma cardiac abnormalities|cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities gard_rare|ordo_disease MONDO:0013671 hydatidiform mole, recurrent, 2 biolink:Disease mondo OMIM:614293|UMLS:C3280352 Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene. UMLS:C3280352|http://identifiers.org/omim/614293 http://purl.obolibrary.org/obo/MONDO_0013671 hydatidiform MOLE, recurrent, 2; HYDM2|complete hydatidiform mole caused by mutation in KHDC3L|HYDM2|KHDC3L complete hydatidiform mole|hydatidiform Mole, complete|hydatidiform Mole, recurrent, type 2|hydatidiform mole, recurrent, 2 MONDO:0013672 chromosome 15q25 deletion syndrome biolink:Disease mondo OMIM:614294|UMLS:C3280355|DOID:0060396 UMLS:C3280355|http://identifiers.org/omim/614294|DOID:0060396 http://purl.obolibrary.org/obo/MONDO_0013672 chromosome 15q25 deletion syndrome MONDO:0011010 Matthew-Wood syndrome biolink:Disease mondo DOID:0050819|UMLS:C1832661|Orphanet:2470|GARD:0000713|MESH:C537768|SCTID:722458000|ICD10:Q11.2|OMIM:601186 Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. SNOMEDCT:722458000|http://identifiers.org/omim/601186|ORPHA:2470|UMLS:C1832661|MESH:C537768|DOID:0050819 http://purl.obolibrary.org/obo/MONDO_0011010 syndromic microphthalmia type 9|pulmonary agenesis microphthalmi and diaphragmatic defect|clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations|microphthalmia, syndromic type 9|microphthalmia, syndromic 9; MCOPS9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|MCOPS9|spear syndrome|microphthalmia, isolated, with coloboma 8|microphthalmia syndromic 9|anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm|anophthalmia-pulmonary hypoplasia syndrome|microphthalmia, syndromic 9|Matthew-Wood syndrome|anophthalmia/microphthalmia and pulmonary hypoplasia|pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect|Matthew Wood syndrome|microphthalmia syndromic type 9 ordo_malformation_syndrome CHEBI:76840 EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor biolink:ChemicalSubstance mondo An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any enzyme in the EC 1.14.99.* (miscellaneous) category. http://purl.obolibrary.org/obo/CHEBI_76840 miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitors|EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors|miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitor|EC 1.14.99.* inhibitor|EC 1.14.99.* inhibitors MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration biolink:Disease mondo OMIM:614292|UMLS:C3280346 http://identifiers.org/omim/614292|UMLS:C3280346 http://purl.obolibrary.org/obo/MONDO_0013670 myopia, high, with cataract and vitreoretinal degeneration|myopia, high, with cataract and vitreoretinal degeneration; MCVD|MCVD MONDO:0001697 reading disorder biolink:Disease mondo DOID:13365|ICD9:315.00|ICD9:315.09|SCTID:52824009 A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process. SNOMEDCT:52824009|DOID:13365 http://purl.obolibrary.org/obo/MONDO_0001697 CHEBI:76857 EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitor biolink:ChemicalSubstance mondo An EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.3.1.*). http://purl.obolibrary.org/obo/CHEBI_76857 EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitors|EC 1.3.1.* inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor MONDO:0001696 obsolete Ehlers-Danlos syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001696 MONDO:0001695 senile ectropion biolink:Disease mondo UMLS:C0155193|DOID:13356|COHD:372325|ICD9:374.11|SCTID:71659009 SNOMEDCT:71659009|DOID:13356|UMLS:C0155193 http://purl.obolibrary.org/obo/MONDO_0001695 involutional ectropion MONDO:0001694 diffuse interstitial keratitis biolink:Disease mondo ICD10:H16.32|ICD9:370.52|DOID:13353|SCTID:17157001|COHD:436407|UMLS:C0155089 SNOMEDCT:17157001|DOID:13353|UMLS:C0155089 http://purl.obolibrary.org/obo/MONDO_0001694 MONDO:0001699 tinea manuum biolink:Disease mondo COHD:80946|DOID:13369|UMLS:C0153246|SCTID:48971001|ICD10:B35.2|ICD9:110.2 A dermatophytosis that involves the hands. UMLS:C0153246|DOID:13369|SNOMEDCT:48971001 http://purl.obolibrary.org/obo/MONDO_0001699 dermatophytosis of hand|Tinea manus|dermatophytosis of manus|manus dermatophytosis MONDO:0001698 tinea profunda biolink:Disease mondo DOID:13368|COHD:140654|UMLS:C1279621|SCTID:214600002 A dermatophytosis that involves the deep dermal layers. SNOMEDCT:214600002|UMLS:C1279621|DOID:13368 http://purl.obolibrary.org/obo/MONDO_0001698 granuloma trichophyticum|Majocchi's granuloma|deep seated dermatophytosis UBERON:0010291 layer of sclera biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0010291 MONDO:0013659 microcephaly-capillary malformation syndrome biolink:Disease mondo OMIM:614261|ICD9:759.89|UMLS:C3280296|Orphanet:294016|ICD10:Q87.8|SCTID:703369003 ORPHA:294016|UMLS:C3280296|http://identifiers.org/omim/614261|SNOMEDCT:703369003 http://purl.obolibrary.org/obo/MONDO_0013659 microcephaly-capillary malformation syndrome; MICCAP|MIC-CAP syndrome|microcephaly-capillary malformation syndrome|microcephaly-cutaneous capillary malformation syndrome|MICCAP|MIC-CM syndrome ordo_malformation_syndrome UBERON:0010294 scleral endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a sclera. http://purl.obolibrary.org/obo/UBERON_0010294 UBERON:0010295 substantia propria of sclera biolink:AnatomicalEntity mondo A stroma that is part of a sclera. http://purl.obolibrary.org/obo/UBERON_0010295 subsantia propria|stroma of sclera|substantia propria sclerae|subsantia propria sclerae|scleral stroma MONDO:0001693 ego-dystonic sexual orientation biolink:Disease mondo DOID:13352|ICD9:302.0|COHD:434903 A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. DOID:13352 http://purl.obolibrary.org/obo/MONDO_0001693 MONDO:0001692 pedophilia biolink:Disease mondo DOID:13351|NCIT:C94355|MESH:D010378|ICD10:F65.4|ICD9:302.2|SCTID:84002002 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children. NCIT:C94355|DOID:13351|SNOMEDCT:84002002|MESH:D010378 http://purl.obolibrary.org/obo/MONDO_0001692 Paedophilia MONDO:0001691 laryngeal cartilage cancer biolink:Disease mondo ICD10:C32.3|UMLS:C0153486|SCTID:363431006|ICD9:161.3|DOID:13348 A malignant neoplasm involving the laryngeal cartilage. UMLS:C0153486|SNOMEDCT:363431006|DOID:13348 http://purl.obolibrary.org/obo/MONDO_0001691 malignant neoplasm of laryngeal cartilages|cancer of laryngeal cartilage|malignant tumor of laryngeal cartilage|malignant neoplasm of laryngeal cartilage|laryngeal cartilage cancer|malignant laryngeal cartilage neoplasm UBERON:0010299 scleral mesenchyme biolink:AnatomicalEntity mondo Mesenchyme surrounding the developing optic cup which develops into the sclera. http://purl.obolibrary.org/obo/UBERON_0010299 MONDO:0001690 parasitic conjunctivitis biolink:Disease mondo DOID:13341|UMLS:C0155148|ICD9:372.15|SCTID:13816006 SNOMEDCT:13816006|DOID:13341|UMLS:C0155148 http://purl.obolibrary.org/obo/MONDO_0001690 MONDO:0011001 Brugada syndrome 1 biolink:Disease mondo UMLS:CN029323|ICD10:I49.8|OMIM:601144|DOID:0110218 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene. DOID:0110218|http://identifiers.org/omim/601144|UMLS:CN029323 http://purl.obolibrary.org/obo/MONDO_0011001 SCN5A Brugada syndrome|sudden unexplained nocturnal death syndrome|Brugada syndrome caused by mutation in SCN5A|Brugada syndrome 1; BRGDA1|right bundle branch block, St segment elevation, and sudden death syndrome|Brugada syndrome type 1|Brugada syndrome 1|BRGDA1|Cardiac conduction defect, nonspecific MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency biolink:Disease mondo UMLS:C1839840|SCTID:49013001|Orphanet:443087|MESH:C564109|ICD10:E29.1|OMIM:614279 ORPHA:443087|http://identifiers.org/omim/614279|SNOMEDCT:49013001|MESH:C564109|UMLS:C1839840 http://purl.obolibrary.org/obo/MONDO_0013664 SRXY8|male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase|46,XY sex reversal 8|46,XY sex reversal 8; SRXY8|46,XY sex reversal type 8 ordo_disease CHEBI:62215 allelochemical biolink:ChemicalSubstance mondo A class of secondary metabolites developed by many plants to influence the behaviour, growth or survival of herbivores, and thus acting as a defence against herbivory. http://purl.obolibrary.org/obo/CHEBI_62215 allelochemicals MONDO:0011000 guanylate cyclase 2E biolink:Disease mondo OMIM:601138 http://identifiers.org/omim/601138 http://purl.obolibrary.org/obo/MONDO_0011000 guanylate cyclase 2E; GUCY2E|GC-E|guanylate cyclase 2E, pseudogene; GUCY2EP|guanylate cyclase 2E, pseudogene|GUCY2EP|guanylyl cyclase, Membrane, type E|guanylate cyclase type 2E|Gucy2D, mouse, homolog of|guanylate cyclase 2E|GUCY2E MONDO:0013665 EJM9 biolink:Disease mondo OMIM:614280 http://identifiers.org/omim/614280 http://purl.obolibrary.org/obo/MONDO_0013665 epilepsy, juvenile myoclonic, susceptibility to, 9|epilepsy, juvenile myoclonic, susceptibility to, 9; EJM9|EJM9 predisposition MONDO:0013662 Barrett esophagus biolink:Disease mondo OMIM:614266|COHD:443344|ICD10:K22.70|DOID:9206|EFO:0000280|ICD9:530.85|SCTID:196609006|NCIT:C2891|ICD10:K22.7|MESH:D001471 Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) SNOMEDCT:196609006|DOID:9206|http://identifiers.org/omim/614266|NCIT:C2891|MESH:D001471 http://purl.obolibrary.org/obo/MONDO_0013662 Barrett's oesophagus|Barrett's esophagus|Barrett's esophagus with esophagitis|Barrett's ulcer of esophagus|cello|CLE|BE|Barrett esophagus|adenocarcinoma of esophagus|columnar-lined esophagus|Barrett metaplasia|columnar epithelial-lined Lower esophagus|ulcerative esophagitis|Barretts syndrome MONDO:0011003 dilated cardiomyopathy 1E biolink:Disease mondo MESH:C563384|GARD:0005644|DOID:0110433|OMIM:601154|ICD10:I42.0|UMLS:C1832680 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene. DOID:0110433|MESH:C563384|http://identifiers.org/omim/601154|UMLS:C1832680 http://purl.obolibrary.org/obo/MONDO_0011003 CMD1E|cardiomyopathy dilated with conduction defect type 2|CDCD2|dilated cardiomyopathy with conduction defect 2|cardiomyopathy, dilated, with conduction defect 2|SCN5A familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1E|dilated cardiomyopathy with conduction disorder and arrhythmia|familial isolated dilated cardiomyopathy caused by mutation in SCN5A|cardiomyopathy, dilated, with conduction disorder and arrhythmia|cardiomyopathy, dilated, 1E; CMD1E|cardiomyopathy, dilated, 1E|cardiomyopathy, dilated, type 1E gard_rare MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A biolink:Disease mondo OMIM:601152 Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene. http://identifiers.org/omim/601152 http://purl.obolibrary.org/obo/MONDO_0011002 neuropathy, hereditary motor and sensory, type 6|HMSN6A|MFN2 hereditary motor and sensory neuropathy type 6|peripheral neuropathy and optic atrophy|hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2|Charcot-Marie-Tooth disease, type 6A|neuropathy, hereditary motor and sensory, type VIA|HMSN 6A|Charcot-Marie-Tooth disease, type 6|neuropathy, hereditary motor and sensory, type VIA; HMSN6A MONDO:0013663 platelet-activating factor acetylhydrolase deficiency (disease) biolink:Disease mondo MESH:C566640|OMIM:614278|HP:0040175|UMLS:C3280315 UMLS:C3280315|http://identifiers.org/omim/614278|MESH:C566640 http://purl.obolibrary.org/obo/MONDO_0013663 PAFAD|platelet-activating factor acetylhydrolase deficiency|platelet-activating factor acetylhydrolase deficiency|platelet-activating factor acetylhydrolase deficiency; PAFAD MONDO:0013668 tetrasomy 18p biolink:Disease mondo Orphanet:3307|MESH:C538306|GARD:0000035|ICD9:758.89|ICD10:Q99.8|SCTID:698849002|OMIM:614290|UMLS:C0795868 Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations. SNOMEDCT:698849002|http://identifiers.org/omim/614290|ORPHA:3307|MESH:C538306|UMLS:C0795868 http://purl.obolibrary.org/obo/MONDO_0013668 Isochromosome 18p|tetrasomy 18p|tetrasomy type 18P|tetrasomy type 18p|chromosome 18p tetrasomy|tetrasomy chromosome 18p|Isochromosome 18P syndrome ordo_malformation_syndrome|gard_rare MONDO:0011005 trisomy 18-like syndrome biolink:Disease mondo MESH:C563382|OMIM:601161|UMLS:C1832677 MESH:C563382|http://identifiers.org/omim/601161|UMLS:C1832677 http://purl.obolibrary.org/obo/MONDO_0011005 trisomy 18-like syndrome MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome biolink:Disease mondo SCTID:718720007|MESH:C563383|ICD10:Q04.3|OMIM:601160|Orphanet:86822|UMLS:C1832678 This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence. MESH:C563383|http://identifiers.org/omim/601160|SNOMEDCT:718720007|UMLS:C1832678|ORPHA:86822 http://purl.obolibrary.org/obo/MONDO_0011004 lissencephaly type III and bone dysplasia|lissencephaly type 3 and bone dysplasia ordo_malformation_syndrome MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 biolink:Disease mondo OMIM:614291 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene. http://identifiers.org/omim/614291 http://purl.obolibrary.org/obo/MONDO_0013669 breast-ovarian cancer, familial, susceptibility to, 4|BROVCA4|susceptibility to familial breast-ovarian cancer 4|hereditary breast ovarian cancer syndrome caused by mutation in RAD51D|breast-ovarian cancer, familial, susceptibility to, type 4|breast-ovarian cancer, familial, susceptibility to, 4; BROVCA4|RAD51D hereditary breast ovarian cancer syndrome predisposition MONDO:0013666 Stickler syndrome, type 5 biolink:Disease mondo UMLS:C3280342|OMIM:614284 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene. UMLS:C3280342|http://identifiers.org/omim/614284 http://purl.obolibrary.org/obo/MONDO_0013666 COL9A2 autosomal recessive Stickler syndrome|STICKLER syndrome, type V; STL5|autosomal recessive Stickler syndrome caused by mutation in COL9A2|STL5|STICKLER syndrome, type V MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome biolink:Disease mondo SCTID:721095007|Orphanet:2141|OMIM:601163|GARD:0002397|MESH:C563380|ICD10:Q87.8 This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies. MESH:C563380|SNOMEDCT:721095007|http://identifiers.org/omim/601163|ORPHA:2141 http://purl.obolibrary.org/obo/MONDO_0011007 froster syndrome|diaphragmatic defect limb deficiency skull defect|diaphragmatic defects, limb deficiencies, and ossification defects of skull|froster-Huch syndrome ordo_malformation_syndrome|gard_rare MONDO:0011006 hereditary spastic paraplegia 9A biolink:Disease mondo DOID:0110824|UMLS:CN237701|MESH:C536868|OMIM:601162|ICD10:G11.4|Orphanet:447753 MESH:C536868|UMLS:CN237701|ORPHA:447753|DOID:0110824|http://identifiers.org/omim/601162 http://purl.obolibrary.org/obo/MONDO_0011006 hereditary spastic paraplegia type 9A|cataracts with motor neuronopathy, short stature, and skeletal abnormalities|autosomal dominant spastic paraplegia 9A|autosomal dominant complex spastic paraplegia type 9A|cataracts with motor neuronopathy, short stature and skeletal abnormalities|spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux|AD-SPG9A|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|cataracts motor neuropathy-short stature-skeletal anomalies syndrome|spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|spastic paraplegia 9A, autosomal dominant; SPG9A|SPG9A|spastic paraplegia 9A, autosomal dominant|spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux ordo_clinical_subtype MONDO:0013667 obsolete myelodysplastic syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013667 MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy biolink:Disease mondo OMIM:614262|UMLS:C3280309 UMLS:C3280309|http://identifiers.org/omim/614262 http://purl.obolibrary.org/obo/MONDO_0013660 arthrogryposis, Perthes disease, and upward gaze palsy; APUG|APUG|arthrogryposis, Perthes disease, and upward gaze palsy MONDO:0013661 combined malonic and methylmalonic acidemia biolink:Disease mondo GARD:0010818|SCTID:702365002|UMLS:C3280314|MESH:C580002|Orphanet:289504|ICD10:E71.1|OMIM:614265 Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. UMLS:C3280314|ORPHA:289504|http://identifiers.org/omim/614265|MESH:C580002|SNOMEDCT:702365002 http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic aciduria|CMAMMA|combined malonic and methylmalonic aciduria; CMAMMA ordo_disease MONDO:0001664 submucous uterine fibroid biolink:Disease mondo SCTID:95279007|ICD10:D25.0|ICD9:218.0|COHD:195769|DOID:13222|UMLS:C0153993 DOID:13222|UMLS:C0153993|SNOMEDCT:95279007 http://purl.obolibrary.org/obo/MONDO_0001664 submucous leiomyoma of uterus MONDO:0001663 hole retinal cyst biolink:Disease mondo ICD9:362.54|ICD10:H35.34|DOID:13214|UMLS:C1261331|SCTID:1079004 SNOMEDCT:1079004|DOID:13214|UMLS:C1261331 http://purl.obolibrary.org/obo/MONDO_0001663 macular cyst, hole, or pseudohole of retina|macular pseudohole retinal cyst|macular cyst or hole MONDO:0001662 right bundle branch block (disease) biolink:Disease mondo ICD9:426.51|COHD:314059|SCTID:59118001|ICD9:426.4|HP:0011712|DOID:13209 DOID:13209|SNOMEDCT:59118001 http://purl.obolibrary.org/obo/MONDO_0001662 right bundle branch block with left posterior fascicular block|right bundle branch block UBERON:0009291 cartilaginous vertebral centrum biolink:AnatomicalEntity mondo Cartilaginous form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified]. http://purl.obolibrary.org/obo/UBERON_0009291 cartilaginous centrum of vertebra|postcaudal cartilaginous centrum MONDO:0001661 background diabetic retinopathy biolink:Disease mondo DOID:13208|ICD9:362.01|NCIT:C35668|SCTID:390834004|UMLS:C0004606|ICD9:362.03 An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels. DOID:13208|SNOMEDCT:390834004|UMLS:C0004606|NCIT:C35668|NCIT:C34408 http://purl.obolibrary.org/obo/MONDO_0001661 non-proliferative diabetic retinopathy|non proliferative diabetic retinopathy MONDO:0001668 internal pathological resorption of tooth biolink:Disease mondo SCTID:52994003|DOID:13239|ICD9:521.41 DOID:13239|SNOMEDCT:52994003 http://purl.obolibrary.org/obo/MONDO_0001668 pathological tooth resorption - internal|internal resorption of crown of tooth|internal granuloma of pulp|internal resorption of tooth|internal pathologic resorption|internal pathological resorption|pink spot lesion of tooth|pink tooth of mummery UBERON:0009292 embryonic nasal process biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009292 nasal placode MONDO:0001667 streptobacillus infectious disease biolink:Disease mondo SCTID:721738002|UMLS:C0947939 SNOMEDCT:721738002|UMLS:C0947939 http://purl.obolibrary.org/obo/MONDO_0001667 infection caused by streptobacillus|streptobacillus infection MONDO:0001666 retinal dystrophies primarily involving Bruch's membrane biolink:Disease mondo DOID:13227|ICD9:362.77 A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation. DOID:13227 http://purl.obolibrary.org/obo/MONDO_0001666 inherited retinal dystrophy of Bruch's membrane|Bruch's membrane inherited retinal dystrophy|retinal dystrophies primarily involving Bruch membrane MONDO:0001665 oculoglandular tularemia biolink:Disease mondo ICD9:021.3|UMLS:C0152944|ICD10:A21.1|DOID:13226|SCTID:73363000 A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear. DOID:13226|UMLS:C0152944|SNOMEDCT:73363000 http://purl.obolibrary.org/obo/MONDO_0001665 UBERON:0010285 midbrain basal plate biolink:AnatomicalEntity mondo Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. http://purl.obolibrary.org/obo/UBERON_0010285 basal plate midbrain|basal plate midbrain region UBERON:0010286 midbrain neural tube biolink:AnatomicalEntity mondo Portion of neural tube that gives rise to the midbrain. http://purl.obolibrary.org/obo/UBERON_0010286 HP:0010465 Precocious puberty in females biolink:PhenotypicFeature mondo SNOMEDCT_US:19911007|UMLS:C0271616 The onset of puberty before the age of 8 years in girls. http://purl.obolibrary.org/obo/HP_0010465 MONDO:0013648 familial progressive hyperpigmentation biolink:Disease mondo UMLS:CN205811|OMIM:614233|SCTID:715630006|UMLS:C1840392|Orphanet:79146|ICD10:L81.4 Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated. ORPHA:79146|UMLS:C1840392|UMLS:CN205811|http://identifiers.org/omim/614233|SNOMEDCT:715630006 http://purl.obolibrary.org/obo/MONDO_0013648 hyperpigmentation, familial progressive, 1|melanosis universalis hereditaria|hyperpigmentation, familial progressive, 1; FPH1|universal melanosis|Fph|melanosis diffusa congenita|FPH1 ordo_disease MONDO:0013649 hypotrichosis 9 biolink:Disease mondo DOID:0110706|UMLS:C3280252|OMIM:614237 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3. DOID:0110706|UMLS:C3280252|http://identifiers.org/omim/614237 http://purl.obolibrary.org/obo/MONDO_0013649 hypotrichosis 9; HYPT9|hypotrichosis type 9|hypotrichosis 9|hypt9|HYPT9 UBERON:0010284 lacrimal punctum biolink:AnatomicalEntity mondo A minute orifice on the summit of the papillae lacrimales, which is the commencement point of the lacrimal canaliculi. http://purl.obolibrary.org/obo/UBERON_0010284 lacrimal puncta|puncta lacrimalia|lacrimal point MONDO:0001660 proliferative diabetic retinopathy biolink:Disease mondo NCIT:C84457|COHD:380096|DOID:13207|SCTID:59276001|UMLS:C0154830|ICD9:362.02 Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness. SNOMEDCT:59276001|NCIT:C84457|UMLS:C0154830|DOID:13207 http://purl.obolibrary.org/obo/MONDO_0001660 PDR HP:0010461 Abnormality of the male genitalia biolink:PhenotypicFeature mondo UMLS:C4023819 Abnormality of the male genital system. http://purl.obolibrary.org/obo/HP_0010461 Abnormality of the male genitalia|Abnormal male genitals HP:0010460 Abnormality of the female genitalia biolink:PhenotypicFeature mondo UMLS:C4023820 Abnormality of the female genital system. http://purl.obolibrary.org/obo/HP_0010460 MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to biolink:Disease mondo OMIM:614251|UMLS:C3280271 Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene. UMLS:C3280271|http://identifiers.org/omim/614251 http://purl.obolibrary.org/obo/MONDO_0013653 Parkinson disease 18, autosomal dominant, susceptibility to|EIF4G1 hereditary late onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 18|hereditary late onset Parkinson disease caused by mutation in EIF4G1|Parkinson disease 18, autosomal dominant, susceptibility to; PARK18|PARK18 predisposition MONDO:0013654 ANIB11 biolink:Disease mondo OMIM:614252|UMLS:C3280275 UMLS:C3280275|http://identifiers.org/omim/614252 http://purl.obolibrary.org/obo/MONDO_0013654 aneurysm, intracranial BERRY, 11|ANIB11|aneurysm, intracranial BERRY, 11; ANIB11 MONDO:0013651 intellectual disability, autosomal recessive 18 biolink:Disease mondo GARD:0012233|UMLS:C3280265|OMIM:614249 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene. UMLS:C3280265|http://identifiers.org/omim/614249 http://purl.obolibrary.org/obo/MONDO_0013651 MRT18|intellectual disability, autosomal recessive type 18|mental retardation, autosomal recessive 18; MRT18|intellectual disability, autosomal recessive 18|autosomal recessive nonsyndromic mental retardation-18|MED23|MED23 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 18|autosomal recessive nonsyndromic intellectual disability-18|mental retardation, autosomal recessive 18|intellectual disability, autosomal recessive 18; MRT18|autosomal recessive non-syndromic intellectual disability caused by mutation in MED23 MONDO:0013652 narcolepsy 7 biolink:Disease mondo UMLS:C3280266|OMIM:614250 Any narcolepsy in which the cause of the disease is a mutation in the MOG gene. UMLS:C3280266|http://identifiers.org/omim/614250 http://purl.obolibrary.org/obo/MONDO_0013652 MOG narcolepsy|narcolepsy 7|narcolepsy type 7|narcolepsy 7; NRCLP7|NRCLP7|narcolepsy caused by mutation in MOG MONDO:0013657 intellectual disability, autosomal dominant 10 biolink:Disease mondo OMIM:614256|DOID:0070040|UMLS:C3280284 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene. UMLS:C3280284|DOID:0070040|http://identifiers.org/omim/614256 http://purl.obolibrary.org/obo/MONDO_0013657 autosomal dominant non-syndromic intellectual disability 10|autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2|intellectual disability, autosomal dominant type 10|MRD10|mental retardation, autosomal dominant type 10|intellectual disability, autosomal dominant 10; MRD10|mental retardation, autosomal dominant 10; MRD10|CACNG2 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 10|mental retardation, autosomal dominant 10|autosomal dominant mental retardation 10|intellectual disability, autosomal dominant 10 MONDO:0013658 intellectual disability, autosomal dominant 11 biolink:Disease mondo OMIM:614257|DOID:0070041|UMLS:C3280285 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene. UMLS:C3280285|DOID:0070041|http://identifiers.org/omim/614257 http://purl.obolibrary.org/obo/MONDO_0013658 EPB41L1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability 11|MRD11|autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1|mental retardation, autosomal dominant type 11|intellectual disability, autosomal dominant type 11|mental retardation, autosomal dominant 11; MRD11|intellectual disability, autosomal dominant 11; MRD11|mental retardation, autosomal dominant 11|autosomal dominant mental retardation 11|autosomal dominant intellectual disability 11|intellectual disability, autosomal dominant 11 MONDO:0013655 intellectual disability, autosomal dominant 8 biolink:Disease mondo UMLS:C3280282|DOID:0070038|OMIM:614254 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene. UMLS:C3280282|DOID:0070038|http://identifiers.org/omim/614254 http://purl.obolibrary.org/obo/MONDO_0013655 mental retardation, autosomal dominant type 8|MRD8|autosomal dominant non-syndromic intellectual disability 8|intellectual disability, autosomal dominant 8, formerly|GRIN1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1|intellectual disability, autosomal dominant 8; MRD8|autosomal dominant mental retardation 8|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NDHMSD|mental retardation, autosomal dominant 8, formerly|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant|intellectual disability, autosomal dominant type 8|intellectual disability, autosomal dominant 8|NDHMSD|mental retardation, autosomal dominant 8; MRD8|autosomal dominant intellectual disability 8|mental retardation, autosomal dominant 8 MONDO:0013656 intellectual disability, autosomal dominant 9 biolink:Disease mondo NCIT:C133742|OMIM:614255|DOID:0070039|UMLS:C3280283 An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity. NCIT:C133742|UMLS:C3280283|DOID:0070039|http://identifiers.org/omim/614255 http://purl.obolibrary.org/obo/MONDO_0013656 autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A|autosomal dominant non-syndromic intellectual disability 9|autosomal dominant mental retardation 9|intellectual disability, autosomal dominant 9; MRD9|mental retardation, autosomal dominant 9; MRD9|intellectual disability, autosomal dominant type 9|mental retardation, autosomal dominant type 9|mental retardation, autosomal dominant 9|intellectual disability, autosomal dominant 9|MRD9|autosomal dominant intellectual disability 9|KIF1A autosomal dominant non-syndromic intellectual disability HP:0010468 Aplasia/Hypoplasia of the testes biolink:PhenotypicFeature mondo UMLS:C4023817 Absence or underdevelopment of the testes. http://purl.obolibrary.org/obo/HP_0010468 Absent/underdeveloped testes|Absent/small testes MONDO:0001659 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001659 MONDO:0001658 nontoxic goiter biolink:Disease mondo NCIT:C35271|DOID:13195|ICD10:E04.9|UMLS:C0221777|ICD10:E04.0 Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. NCIT:C35271|DOID:13195|UMLS:C0221777 http://purl.obolibrary.org/obo/MONDO_0001658 goitre, non-toxic NOS|goiter, non-toxic|non-toxic goiter|non-toxic goitre|goitre, non-toxic|nontoxic goiter|non-toxic simple goitre|Nodule-thyroid, non tox|euthyroid goiter CHEBI:76863 EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor biolink:ChemicalSubstance mondo An EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.5.1.*). http://purl.obolibrary.org/obo/CHEBI_76863 oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitor|EC 1.5.1.* inhibitors|EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.5.1.* inhibitor|oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitors MONDO:0013650 hypotrichosis 10 biolink:Disease mondo OMIM:614238|DOID:0110707|UMLS:C3280253 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3. DOID:0110707|UMLS:C3280253|http://identifiers.org/omim/614238 http://purl.obolibrary.org/obo/MONDO_0013650 hypotrichosis type 10|hypt10|HYPT10|hypotrichosis 10|hypotrichosis 10; HYPT10 MONDO:0001675 obsolete porphyria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001675 MONDO:0001674 diverticulitis of colon biolink:Disease mondo SCTID:111359004|UMLS:C0012814|COHD:77025|ICD9:562.11|DOID:13254|ICD9:562.12|MESH:D004239 Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation. UMLS:C0012814|MESH:D004239|DOID:13254|SNOMEDCT:111359004 http://purl.obolibrary.org/obo/MONDO_0001674 colonic diverticular disease|colon diverticulitis MONDO:0001673 diarrheal disease biolink:Disease mondo ICD9:009.2|SCTID:128333008|NCIT:C2987|HP:0002014|COHD:196523|DOID:13250|MESH:D003967 The condition of having at least three loose or liquid bowel movements each day. MESH:D003967|NCIT:C2987|SNOMEDCT:128333008|DOID:13250 http://purl.obolibrary.org/obo/MONDO_0001673 loose stools|frequent stools|diarrheal disorder|diarrhea of presumed infectious origin|diarrhoea|diarrhea|diarrheal disease NCBITaxon:2698737 Sar organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2698737 SAR supergroup MONDO:0001672 bronchus cancer biolink:Disease mondo ICD10:C34|SCTID:363493006|ICD10:C34.9|ICD9:162.8|ICD9:162.9|DOID:1325 A malignant neoplasm involving the bronchus DOID:1325|SNOMEDCT:363493006 http://purl.obolibrary.org/obo/MONDO_0001672 malignant neoplasm of bronchus and lung, unspecified|malignant bronchus neoplasm|malignant neoplasm of bronchus|malignant neoplasm of bronchus or lung|malignant neoplasm of bronchus and lung|cancer of bronchus|bronchus cancer MONDO:0001679 obsolete crater-like holes of optic disc biolink:Disease mondo ICD9:377.22|DOID:13295 DOID:13295 http://purl.obolibrary.org/obo/MONDO_0001679 crater-like optic disc holes MONDO:0001678 intestinal tuberculosis biolink:Disease mondo ICD9:014.8|UMLS:C0275911|ICD9:014.80|SCTID:60136008|DOID:13282 A tuberculosis that involves the intestine. DOID:13282|SNOMEDCT:60136008|UMLS:C0275911 http://purl.obolibrary.org/obo/MONDO_0001678 intestine tuberculosis|tuberculosis of intestine MONDO:0001677 obsolete Rift valley fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001677 MONDO:0001676 erythropoietic protoporphyria biolink:Disease mondo OMIMPS:177000|ICD10:E80.0|SCTID:51022005|MESH:D046351|DOID:13270 A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly. DOID:13270|MESH:D046351|SNOMEDCT:51022005 http://purl.obolibrary.org/obo/MONDO_0001676 EPP|protoporphyria|EPP (erythropoietic protoporphyria porphyria) MONDO:0013639 narcolepsy 6, susceptibility to biolink:Disease mondo OMIM:614223 http://identifiers.org/omim/614223 http://purl.obolibrary.org/obo/MONDO_0013639 narcolepsy 6, susceptibility to|NRCLP6|narcolepsy 6, susceptibility to; NRCLP6 predisposition UBERON:0010272 hyoid apparatus biolink:AnatomicalEntity mondo A group of bones comprised of hyoid body and two pairs of cornua (i.e. greater cornua and lesser cornua), and lies just below the tongue, above the thyroid cartilage http://purl.obolibrary.org/obo/UBERON_0010272 apparatus hyobranchialis|hyobranchial apparatus|apparatus hyoideus|hyolingual system MONDO:0013637 primary biliary cholangitis 5 biolink:Disease mondo UMLS:C3280202|OMIM:614221 UMLS:C3280202|http://identifiers.org/omim/614221 http://purl.obolibrary.org/obo/MONDO_0013637 biliary cirrhosis, primary, 5|biliary cirrhosis, primary, 5; PBC5|PBC5 MONDO:0013638 Warburg micro syndrome 3 biolink:Disease mondo OMIM:614222|DOID:0110718|UMLS:C3280203|ICD10:Q87.0 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene. DOID:0110718|UMLS:C3280203|http://identifiers.org/omim/614222 http://purl.obolibrary.org/obo/MONDO_0013638 micro syndrome 3|WARBURG micro syndrome 3; WARBM3|RAB18 Warburg micro syndrome|Warburg micro syndrome caused by mutation in RAB18|Warburg micro syndrome 3|Warburg micro syndrome type 3|WARBM3 UBERON:0010273 zone of hyoid bone biolink:AnatomicalEntity mondo A zone of bone organ that is part of a hyoid bone. http://purl.obolibrary.org/obo/UBERON_0010273 hyoid bone zone MONDO:0001671 mucocele of appendix biolink:Disease mondo DOID:13248|NCIT:C3241|SCTID:53773002|UMLS:C0026684|ICD9:543.9 Accumulation of mucus within the appendix. NCIT:C3241|UMLS:C0026684|SNOMEDCT:53773002|DOID:13248 http://purl.obolibrary.org/obo/MONDO_0001671 Appendicele mucocele|appendiceal mucocele|mucocele of the appendix MONDO:0001670 tooth resorption biolink:Disease mondo ICD10:K03.3|ICD9:521.4|DOID:13240|SCTID:70931000|MESH:D014091|UMLS:C0040451 Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676) MESH:D014091|DOID:13240|SNOMEDCT:70931000|UMLS:C0040451 http://purl.obolibrary.org/obo/MONDO_0001670 UBERON:0010276 space in vertebral column biolink:AnatomicalEntity mondo Any anatomical space that is part of a vertebral column. http://purl.obolibrary.org/obo/UBERON_0010276 vertebral conduit|vertebral column opening MONDO:0013642 holoprosencephaly 11 biolink:Disease mondo DOID:0110877|UMLS:C3280215|OMIM:614226 Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene. DOID:0110877|UMLS:C3280215|http://identifiers.org/omim/614226 http://purl.obolibrary.org/obo/MONDO_0013642 holoprosencephaly caused by mutation in CDON|holoprosencephaly 11|holoprosencephaly type 11|holoprosencephaly 11; HPE11|CDON holoprosencephaly|HPE11 MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 biolink:Disease mondo OMIM:614227|UMLS:C3280216 UMLS:C3280216|http://identifiers.org/omim/614227 http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile, 3; HNFJ3|HNFJ3|hyperuricemic nephropathy, familial juvenile, 3 MONDO:0013640 familial retinal arterial macroaneurysm biolink:Disease mondo GARD:0012779|UMLS:C3280205|SCTID:764452004|OMIM:614224|Orphanet:284247 UMLS:C3280205|SNOMEDCT:764452004|http://identifiers.org/omim/614224|ORPHA:284247 http://purl.obolibrary.org/obo/MONDO_0013640 retinal arterial macroaneurysm and supravalvular pulmonic stenosis|retinal arterial macroaneurysm with supravalvular pulmonic stenosis; RAMSVPS|RAMSVPS|retinal arterial macroaneurysm with supravalvular pulmonic stenosis|Fram ordo_malformation_syndrome MONDO:0013641 Warburg micro syndrome 2 biolink:Disease mondo ICD10:Q87.0|UMLS:C3280214|OMIM:614225|DOID:0110717 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene. DOID:0110717|UMLS:C3280214|http://identifiers.org/omim/614225 http://purl.obolibrary.org/obo/MONDO_0013641 micro syndrome 2|RAB3GAP2 Warburg micro syndrome|WARBURG micro syndrome 2; WARBM2|WARBM2|Warburg micro syndrome 2|Warburg micro syndrome caused by mutation in RAB3GAP2|Warburg micro syndrome type 2 MONDO:0013646 chromosome 8q21.11 deletion syndrome biolink:Disease mondo ICD10:Q93.5|UMLS:C4305343|Orphanet:284160|UMLS:C3280231|SCTID:718615003|OMIM:614230|DOID:0060425 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. DOID:0060425|UMLS:C3280231|http://identifiers.org/omim/614230|SNOMEDCT:718615003|UMLS:C4305343|ORPHA:284160 http://purl.obolibrary.org/obo/MONDO_0013646 8q21.11 microdeletion syndrome|deletion 8q21.11|chromosome 8q21.11 deletion syndrome|monosomy 8q21.11|Del(8)(q21.11) ordo_malformation_syndrome MONDO:0013647 primary microcephaly-epilepsy-permanent neonatal diabetes syndrome biolink:Disease mondo OMIM:614231|Orphanet:306558|UMLS:C3280240 UMLS:C3280240|http://identifiers.org/omim/614231|ORPHA:306558 http://purl.obolibrary.org/obo/MONDO_0013647 microcephaly, epilepsy, and diabetes syndrome; MEDS|MEDS|microcephaly, epilepsy, and diabetes syndrome ordo_disease MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O biolink:Disease mondo UMLS:C3280220|OMIM:614228|ICD10:G60.0|GARD:0012434|DOID:0110175|Orphanet:284232 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene. DOID:0110175|UMLS:C3280220|http://identifiers.org/omim/614228|ORPHA:284232 http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth neuropathy, axonal, type 2O|Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth disease caused by mutation in DYNC1H1|autosomal dominant axonal Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth neuropathy axonal type 2O|CMT2O|Charcot-Marie-Tooth disease, axonal, type 2O; CMT2O|Charcot-Marie-Tooth disease, axonal, type 2O|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O|autosomal dominant Charcot-Marie-Tooth disease type 2O|DYNC1H1 Charcot-Marie-Tooth disease ordo_disease MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 biolink:Disease mondo ICD10:G11.1|DOID:0080063|OMIM:614229|UMLS:C3280226|Orphanet:284271 Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene. ORPHA:284271|UMLS:C3280226|http://identifiers.org/omim/614229|DOID:0080063 http://purl.obolibrary.org/obo/MONDO_0013645 autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14|spinocerebellar ataxia, autosomal recessive 11|autosomal recessive cerebellar ataxia-psychomotor retardation syndrome|spinocerebellar ataxia, autosomal recessive 11; SCAR11|SCAR11|spinocerebellar ataxia, autosomal recessive type 11|SYT14 autosomal recessive syndromic cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 11 ordo_disease CHEBI:76870 EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor biolink:ChemicalSubstance mondo An EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor that interferes with the action of any such enzyme using oxygen as acceptor (EC 1.9.3.*). http://purl.obolibrary.org/obo/CHEBI_76870 EC 1.9.3.* inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitor|EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitors|EC 1.9.3.* inhibitor ECTO:9000077 chlorine molecular entity exposure biolink:OntologyClass mondo An exposure to chlorine molecular entity. http://purl.obolibrary.org/obo/ECTO_9000077 exposure to chlorine molecular entity MONDO:0001669 obsolete lung cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001669 HP:0009473 Joint contracture of the hand biolink:PhenotypicFeature mondo UMLS:C0158113|SNOMEDCT_US:86414002|MEDDRA:10010821 Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. http://purl.obolibrary.org/obo/HP_0009473 Contractures of the hands|Contractures involving the hands hposlim_core GO:1902018 negative regulation of cilium assembly biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. http://purl.obolibrary.org/obo/GO_1902018 negative regulation of cilium biogenesis|down-regulation of cilium biogenesis|downregulation of ciliogenesis|down regulation of cilium biogenesis|down regulation of ciliogenesis|down-regulation of cilium assembly|downregulation of cilium biogenesis|negative regulation of ciliogenesis|down-regulation of ciliogenesis|down regulation of cilium assembly|inhibition of cilium assembly|downregulation of cilium assembly|inhibition of ciliogenesis|inhibition of cilium biogenesis GO:1902019 regulation of cilium-dependent cell motility biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cilium-dependent cell motility. http://purl.obolibrary.org/obo/GO_1902019 regulation of cilium cell motility|regulation of ciliary cell motility HGNC:7717 NDUFV2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7717 GO:1902017 regulation of cilium assembly biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cilium assembly. http://purl.obolibrary.org/obo/GO_1902017 regulation of ciliogenesis|regulation of cilium biogenesis HGNC:592 XIAP biolink:OntologyClass mondo http://identifiers.org/hgnc/592 GO:1904677 positive regulation of somatic stem cell division biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of somatic stem cell division. http://purl.obolibrary.org/obo/GO_1904677 upregulation of somatic stem cell renewal|up regulation of somatic stem cell division|up-regulation of somatic stem cell division|up-regulation of somatic stem cell renewal|activation of somatic stem cell division|up regulation of somatic stem cell renewal|positive regulation of somatic stem cell renewal|activation of somatic stem cell renewal|upregulation of somatic stem cell division GO:1904676 negative regulation of somatic stem cell division biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division. http://purl.obolibrary.org/obo/GO_1904676 negative regulation of somatic stem cell renewal|down-regulation of somatic stem cell renewal|down regulation of somatic stem cell renewal|downregulation of somatic stem cell division|downregulation of somatic stem cell renewal|inhibition of somatic stem cell renewal|down regulation of somatic stem cell division|inhibition of somatic stem cell division|down-regulation of somatic stem cell division GO:1904675 regulation of somatic stem cell division biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of somatic stem cell division. http://purl.obolibrary.org/obo/GO_1904675 regulation of somatic stem cell renewal HGNC:7720 NEB biolink:OntologyClass mondo http://identifiers.org/hgnc/7720 GO:1902020 negative regulation of cilium-dependent cell motility biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cilium-dependent cell motility. http://purl.obolibrary.org/obo/GO_1902020 negative regulation of cilium cell motility|down-regulation of ciliary cell motility|down regulation of ciliary cell motility|negative regulation of ciliary cell motility|inhibition of ciliary cell motility|downregulation of ciliary cell motility CHEBI:50248 hematologic agent biolink:ChemicalSubstance mondo Drug that acts on blood and blood-forming organs and those that affect the hemostatic system. http://purl.obolibrary.org/obo/CHEBI_50248 hematologic agents CHEBI:50249 anticoagulant biolink:ChemicalSubstance mondo An agent that prevents blood clotting. http://purl.obolibrary.org/obo/CHEBI_50249 anticoagulante|anticoagulants HGNC:7728 NEDD4L biolink:OntologyClass mondo http://identifiers.org/hgnc/7728 GO:1904689 negative regulation of cytoplasmic translational initiation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation. http://purl.obolibrary.org/obo/GO_1904689 downregulation of cytoplasmic translational initiation|down regulation of cytoplasmic translational initiation|inhibition of cytoplasmic translational initiation|down-regulation of cytoplasmic translational initiation GO:1904688 regulation of cytoplasmic translational initiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation. http://purl.obolibrary.org/obo/GO_1904688 GO:1904690 positive regulation of cytoplasmic translational initiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation. http://purl.obolibrary.org/obo/GO_1904690 activation of cytoplasmic translational initiation|upregulation of cytoplasmic translational initiation|up regulation of cytoplasmic translational initiation|up-regulation of cytoplasmic translational initiation HGNC:7737 NEFH biolink:OntologyClass mondo http://identifiers.org/hgnc/7737 HGNC:575 AP4S1 biolink:OntologyClass mondo http://identifiers.org/hgnc/575 HGNC:574 AP4M1 biolink:OntologyClass mondo http://identifiers.org/hgnc/574 HGNC:573 AP4E1 biolink:OntologyClass mondo http://identifiers.org/hgnc/573 HGNC:7739 NEFL biolink:OntologyClass mondo http://identifiers.org/hgnc/7739 HGNC:572 AP4B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/572 ENVO:01000617 lentic water body biolink:OntologyClass mondo A lentic water body is a water body in which the accumulated water, in its totality, has very little to no directed flow. http://purl.obolibrary.org/obo/ENVO_01000617 HGNC:7745 NEK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7745 HGNC:7744 NEK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7744 GO:0003943 N-acetylgalactosamine-4-sulfatase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. http://purl.obolibrary.org/obo/GO_0003943 chondroitinsulfatase|N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase activity|N-acetylgalactosamine-4-sulphatase activity|acetylgalactosamine 4-sulfatase activity|arylsulfatase B|N-acetylgalactosamine 4-sulfate sulfohydrolase activity GO:0003940 L-iduronidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. http://purl.obolibrary.org/obo/GO_0003940 alpha-L-iduronidase activity|glycosaminoglycan alpha-L-iduronohydrolase activity GO:0015929 hexosaminidase activity biolink:OntologyClass mondo Catalysis of the cleavage of hexosamine or N-acetylhexosamine residues (e.g. N-acetylglucosamine) residues from gangliosides or other glycoside oligosaccharides. http://purl.obolibrary.org/obo/GO_0015929 HGNC:583 APC biolink:OntologyClass mondo http://identifiers.org/hgnc/583 HGNC:582 APBB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/582 GO:0015925 galactosidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. http://purl.obolibrary.org/obo/GO_0015925 GO:0015926 glucosidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of glucosyl compounds, substances containing a group derived from a cyclic form of glucose or a glucose derivative. http://purl.obolibrary.org/obo/GO_0015926 GO:0015927 trehalase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of trehalose or a trehalose derivative. http://purl.obolibrary.org/obo/GO_0015927 GO:0015923 mannosidase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of mannosyl compounds, substances containing a group derived from a cyclic form of mannose or a mannose derivative. http://purl.obolibrary.org/obo/GO_0015923 HGNC:7758 NEU1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7758 HGNC:559 AP1S1 biolink:OntologyClass mondo http://identifiers.org/hgnc/559 MONDO:0001602 labia minora carcinoma biolink:Disease mondo NCIT:C9364|UMLS:C1334357|DOID:1293 A carcinoma that arises from the labia minora. UMLS:C1334357|NCIT:C9364|DOID:1293 http://purl.obolibrary.org/obo/MONDO_0001602 carcinoma of labia minora|labia minora carcinoma|labia minora cancer|labia minora cancer|carcinoma of the labia minora|carcinoma of labium minora|labium minora carcinoma MONDO:0001601 Plasmodium ovale malaria biolink:Disease mondo SCTID:19341001|DOID:12919|ICD10:B53.0|ICD9:084.3|UMLS:C0152072 An malaria caused by infection with Plasmodium ovale. DOID:12919|UMLS:C0152072|SNOMEDCT:19341001 http://purl.obolibrary.org/obo/MONDO_0001601 ovale malaria|Malariaby Plasmodium ovale MONDO:0001600 mucocele of salivary gland biolink:Disease mondo ICD9:527.6|ICD10:K11.6|DOID:12904|COHD:24977|UMLS:C2242813|SCTID:69825009|UMLS:C0026686|MESH:D011900 A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction. SNOMEDCT:69825009|DOID:12904|UMLS:C0026686|UMLS:C2242813|MESH:D011900|NCIT:C27649 http://purl.obolibrary.org/obo/MONDO_0001600 mucous retention cyst of salivary gland|ranula|salivary cyst|salivary gland mucocele UBERON:0010223 left pupil biolink:AnatomicalEntity mondo A pupil that is part of a left eye. http://purl.obolibrary.org/obo/UBERON_0010223 pupil of left eye UBERON:0010224 right pupil biolink:AnatomicalEntity mondo A pupil that is part of a right eye. http://purl.obolibrary.org/obo/UBERON_0010224 pupil of right eye UBERON:0010221 laryngeal associated mesenchyme biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010221 UBERON:0010222 anatomical line between pupils biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010222 inter-pupillary line|interpupillary line HGNC:7765 NF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7765 HGNC:5102 HOXA13 biolink:OntologyClass mondo http://identifiers.org/hgnc/5102 HGNC:5103 HOXA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5103 GO:1902064 regulation of transcription from RNA polymerase II promoter involved in spermatogenesis biolink:OntologyClass mondo Any regulation of transcription from RNA polymerase II promoter that is involved in spermatogenesis. http://purl.obolibrary.org/obo/GO_1902064 regulation of transcription from Pol II promoter involved in generation of spermatozoa|regulation of transcription from RNA polymerase II promoter, global involved in generation of spermatozoa|regulation of gene-specific transcription from RNA polymerase II promoter involved in spermatogenesis|regulation of global transcription from Pol II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter involved in generation of spermatozoa|regulation of transcription from Pol II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter, global involved in spermatogenesis|global transcription regulation from Pol II promoter involved in generation of spermatozoa|regulation of gene-specific transcription from RNA polymerase II promoter involved in generation of spermatozoa|global transcription regulation from Pol II promoter involved in spermatogenesis|regulation of global transcription from Pol II promoter involved in generation of spermatozoa HGNC:7762 NEUROD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7762 HGNC:5101 HOXA11 biolink:OntologyClass mondo http://identifiers.org/hgnc/5101 HGNC:568 AP3D1 biolink:OntologyClass mondo http://identifiers.org/hgnc/568 HGNC:567 AP3B2 biolink:OntologyClass mondo http://identifiers.org/hgnc/567 MONDO:0001613 vertebrobasilar insufficiency biolink:Disease mondo DOID:13003|UMLS:C0042568|EFO:1001449|MESH:D014715|COHD:376714|SCTID:195199008|ICD10:G45.0|ICD9:435.3 Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated. MESH:D014715|UMLS:C0042568|DOID:13003|SNOMEDCT:195199008 http://purl.obolibrary.org/obo/MONDO_0001613 vertebrobasilar insufficiency|vertebrobasilar artery syndrome|vertebrobasilar arterial insufficiency|vertebro-basilar insufficiency HGNC:566 AP3B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/566 MONDO:0001612 carotid stenosis biolink:Disease mondo HP:0100546|DOID:13001|ICD9:433.10|SCTID:64586002|NCIT:C95804|UMLS:C0007282|MESH:D016893 A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents. SNOMEDCT:64586002|MESH:D016893|NCIT:C95804|DOID:13001|UMLS:C0007282 http://purl.obolibrary.org/obo/MONDO_0001612 stenosis, carotid artery|carotid artery stenosis HGNC:565 AP2S1 biolink:OntologyClass mondo http://identifiers.org/hgnc/565 MONDO:0001611 phlegmonous dacryocystitis biolink:Disease mondo SCTID:64324003|ICD9:375.33|ICD10:H04.31|DOID:12997|UMLS:C0155238 SNOMEDCT:64324003|UMLS:C0155238|DOID:12997 http://purl.obolibrary.org/obo/MONDO_0001611 MONDO:0001610 acute dacryocystitis biolink:Disease mondo COHD:438761|ICD10:H04.32|ICD9:375.32|SCTID:25470000|DOID:12996|UMLS:C0155237 Acute form of dacryocystitis. SNOMEDCT:25470000|UMLS:C0155237|DOID:12996 http://purl.obolibrary.org/obo/MONDO_0001610 dacryocystitis - acute|dacryocystitis, acute UBERON:0010212 laryngeal apparatus biolink:AnatomicalEntity mondo Apparatus located between the lungs and the buccal cavity. This apparatus is composed of a pair of arytenoid cartilages that are supported by the cricoid ring. http://purl.obolibrary.org/obo/UBERON_0010212 laryngeal cartilage system UBERON:0010213 laryngeal pre-cartilage condensation biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010213 CHEBI:37246 elemental sodium biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37246 UBERON:0010204 tail vasculature biolink:AnatomicalEntity mondo A vasculature that is part of a post-anal tail. http://purl.obolibrary.org/obo/UBERON_0010204 post-vent vasculature|tail vasculature MONDO:0001606 central nervous system leukemia biolink:Disease mondo UMLS:C1332884|DOID:12969|NCIT:C5440 Leukemia infiltrating the central nervous system structures. NCIT:C5440|DOID:12969|UMLS:C1332884 http://purl.obolibrary.org/obo/MONDO_0001606 CNS leukemia|leukemia (disease) of central nervous system|central nervous system leukemia|central nervous system leukemia (disease)|leukemia of the CNS|leukemia of CNS|leukemia of central nervous system|leukemia of the central nervous system MONDO:0001605 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001605 MONDO:0001604 lagophthalmos biolink:Disease mondo ICD9:374.2|DOID:12959|UMLS:C0152226|ICD9:374.20|ICD10:H02.2|COHD:381021|SCTID:60735000|ICD10:H02.20 DOID:12959|UMLS:C0152226|SNOMEDCT:60735000 http://purl.obolibrary.org/obo/MONDO_0001604 MONDO:0001603 paralytic lagophthalmos (disease) biolink:Disease mondo UMLS:C0155197|ICD9:374.21|COHD:375821|DOID:12958|ICD10:H02.23|HP:0030003 DOID:12958|UMLS:C0155197 http://purl.obolibrary.org/obo/MONDO_0001603 paralytic lagophthalmos MONDO:0001609 agranulocytosis biolink:Disease mondo DOID:12987|SCTID:417672002|ICD9:288.8|GARD:0006545|ICD10:D70|NCIT:C2863|MESH:D000380|UMLS:C0001824 A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. DOID:12987|NCIT:C2863|MESH:D000380|SNOMEDCT:417672002|UMLS:C0001824 http://purl.obolibrary.org/obo/MONDO_0001609 Granulocytopenic disorder|granulocytopenia|Granulopenia MONDO:0001608 vagus nerve neoplasm biolink:Disease mondo NCIT:C5831|UMLS:C1263901|DOID:12984|SCTID:126976007|ICD9:239.7 A neoplasm involving a vagus nerve. DOID:12984|UMLS:C1263901|NCIT:C5831|SNOMEDCT:126976007 http://purl.obolibrary.org/obo/MONDO_0001608 neoplasm of the Vagus nerve|neoplasm of the tenth cranial nerve|neoplasm of Vagus nerve|tenth cranial nerve neoplasm|vagus nerve neoplasm (disease)|Vagus nerve neoplasm|neoplasm of tenth cranial nerve|Vagus nerve tumor|tenth cranial nerve tumor|tenth cranial nerve tumors|Vagus nerve neoplasms|tenth cranial nerve neoplasms|neoplasm of vagus nerve|vagus nerve tumor|tumor of the Vagus nerve|tumor of Vagus nerve|tumor of the tenth cranial nerve|tumor of tenth cranial nerve|Vagus nerve tumors|Xth cranial nerve neoplasms|Xth cranial nerve tumors|tumor of vagus nerve HGNC:5111 HOXB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5111 MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis biolink:Disease mondo ICD9:202.46|DOID:12972|UMLS:C0153831|SCTID:93145002 DOID:12972|UMLS:C0153831|SNOMEDCT:93145002 http://purl.obolibrary.org/obo/MONDO_0001607 leukemic reticuloendotheliosis involving intrapelvic lymph nodes|leukemic reticuloendotheliosis of intrapelvic lymph nodes HGNC:7773 NF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7773 HGNC:5125 HOXC13 biolink:OntologyClass mondo http://identifiers.org/hgnc/5125 HGNC:7788 NFIX biolink:OntologyClass mondo http://identifiers.org/hgnc/7788 HGNC:26392 PTCHD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26392 UBERON:0009210 pharyngeal membrane biolink:AnatomicalEntity mondo A thin fold of ectoderm and endoderm that separates the pharyngeal pouches from the pharyngeal clefts in a developing embryo. http://purl.obolibrary.org/obo/UBERON_0009210 pharyngeal membrane|branchial membrane|branchial arch membrane UBERON:0009213 pharyngeal membrane of 1st arch biolink:AnatomicalEntity mondo A pharyngeal membrane that separates the first pharyngeal cleft from the first pharyngeal pouch. http://purl.obolibrary.org/obo/UBERON_0009213 1st pharyngeal membrane|future tympanic membrane|tympanic membrane primordium|1st branchial membrane HGNC:7784 NFIA biolink:OntologyClass mondo http://identifiers.org/hgnc/7784 CHEBI:25248 methyl ester biolink:ChemicalSubstance mondo Any carboxylic ester resulting from the formal condensation of a carboxy group with methanol. http://purl.obolibrary.org/obo/CHEBI_25248 carboxylic acid methyl esters|carboxylic acid methyl ester HGNC:543 ANXA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/543 GO:1902098 calcitriol binding biolink:OntologyClass mondo Interacting selectively and non-covalently with calcitriol. Calcitriol (1,25-dihydroxycholecalciferol) is the hormonally active form of vitamin D3. http://purl.obolibrary.org/obo/GO_1902098 hormonally active vitamin D3 binding|1alpha,25-dihydroxyvitamin D3 binding|1alpha,25-dihydroxycholecalciferol binding|1,25-dihydroxyvitamin D3 binding|1alpha,25(OH)2D3 binding|1alpha,25(OH)2 vitamin D3 binding|1,25-dihydroxycholecalciferol binding UBERON:0009205 lateral nasal process mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a lateral nasal prominence. http://purl.obolibrary.org/obo/UBERON_0009205 mesenchyme of latero-nasal process HGNC:5136 HOXD13 biolink:OntologyClass mondo http://identifiers.org/hgnc/5136 UBERON:0009206 lateral nasal process surface ectoderm biolink:AnatomicalEntity mondo An ectoderm that is part of a lateral nasal prominence. http://purl.obolibrary.org/obo/UBERON_0009206 ectoderm of latero-nasal process HGNC:7797 NFKBIA biolink:OntologyClass mondo http://identifiers.org/hgnc/7797 GO:1902093 positive regulation of flagellated sperm motility biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of flagellated sperm motility. http://purl.obolibrary.org/obo/GO_1902093 up regulation of sperm motility|up-regulation of sperm motility|activation of sperm movement|upregulation of sperm movement|activation of sperm motility|positive regulation of sperm movement|up regulation of sperm movement|upregulation of sperm motility|up-regulation of sperm movement|positive regulation of sperm motility UBERON:0009200 limb epidermis biolink:AnatomicalEntity mondo The limb epidermis is the outer epithelial layer of the limb, it is a complex stratified squamous epithelium. http://purl.obolibrary.org/obo/UBERON_0009200 HGNC:7794 NFKB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7794 UBERON:0009201 nephric duct biolink:AnatomicalEntity mondo A nephric duct is a tube that drains a primitive kidney[GO]. http://purl.obolibrary.org/obo/UBERON_0009201 HGNC:5133 HOXD10 biolink:OntologyClass mondo http://identifiers.org/hgnc/5133 HGNC:7795 NFKB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7795 UBERON:0009204 medial nasal process mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a medial nasal prominence. http://purl.obolibrary.org/obo/UBERON_0009204 ENVO:01000554 hydrocarbon gas biolink:OntologyClass mondo A gas that is primarily composed of hydrocarbon molecules. http://purl.obolibrary.org/obo/ENVO_01000554 CL:0000127 astrocyte biolink:Cell mondo BTO:0000099|FMA:54537|CALOHA:TS-0060 A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury. http://purl.obolibrary.org/obo/CL_0000127 astrocytic glia HGNC:26498 ZNF513 biolink:OntologyClass mondo http://identifiers.org/hgnc/26498 CL:0000123 neuron associated cell (sensu Vertebrata) biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000123 CL:0000125 glial cell biolink:Cell mondo CALOHA:TS-0415|BTO:0002606|FMA:54536 A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. http://purl.obolibrary.org/obo/CL_0000125 neuroglia|neuroglial cell CL:0000126 macroglial cell biolink:Cell mondo BTO:0000771|CALOHA:TS-2027|FMA:54538 A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together. http://purl.obolibrary.org/obo/CL_0000126 macrogliocyte GO:0015893 drug transport biolink:OntologyClass mondo The directed movement of a drug, a substance used in the diagnosis, treatment or prevention of a disease, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015893 GO:0052856 NADHX epimerase activity biolink:OntologyClass mondo Catalysis of the reaction: (R)-NADHX = (S)-NADHX. http://purl.obolibrary.org/obo/GO_0052856 ENVO:01000543 atmospheric layer biolink:OntologyClass mondo A layer that is part of the atmosphere. http://purl.obolibrary.org/obo/ENVO_01000543 atmospheric layering ENVO:01000544 boundary layer biolink:OntologyClass mondo A boundary layer is a layer of fluid in the immediate vicinity of a bounding surface where the effects of viscosity are significant enough to distort the surrounding non-viscous flow. http://purl.obolibrary.org/obo/ENVO_01000544 boundary layer CL:0000138 chondrocyte biolink:Cell mondo CALOHA:TS-0138|FMA:66782|BTO:0000249 Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell. http://purl.obolibrary.org/obo/CL_0000138 cartilage cell CL:0000133 neurectodermal cell biolink:Cell mondo Ectoderm destined to be nervous tissue. http://purl.obolibrary.org/obo/CL_0000133 neurectoderm cell CL:0000134 mesenchymal stem cell biolink:Cell mondo BTO:0003298|FMA:70546|BTO:0002625 A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. http://purl.obolibrary.org/obo/CL_0000134 colony-forming unit-fibroblast|MSC|BMSC|mesenchymal stromal cells|mesenchymal precursor cell|mesenchymal stem cell|mesenchymal stromal cell|mesenchymal progenitor cells|stem cells, mesenchymal|bone marrow stromal cells|marrow stromal cells|CFU-F CL:0000136 fat cell biolink:Cell mondo FMA:63880|CALOHA:TS-0012|BTO:0000443 A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides. http://purl.obolibrary.org/obo/CL_0000136 adipocyte|adipose cell MONDO:0023093 exertional headache biolink:Disease mondo GARD:0010800 http://purl.obolibrary.org/obo/MONDO_0023093 primary Exertional headache|primary headache associated with sexual activity gard_rare MONDO:0023094 exogenous ochronosis biolink:Disease mondo SCTID:410041002|GARD:0010757|MESH:C531762|ICD9:270.2 Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria. SNOMEDCT:410041002|MESH:C531762 http://purl.obolibrary.org/obo/MONDO_0023094 ocular ochronosis|pseudo-ochronosis|exogenous ochronosis|ochronosis, acquired gard_rare MONDO:0023097 obsolete exostoses anetodermia brachydactyly type E biolink:Disease mondo GARD:0002202 http://purl.obolibrary.org/obo/MONDO_0023097 gard_rare MONDO:0023098 extrasystoles short stature hyperpigmentation microcephaly biolink:Disease mondo GARD:0002213 http://purl.obolibrary.org/obo/MONDO_0023098 Char douglas Dungan syndrome gard_rare MONDO:0023099 FRAXD syndrome biolink:Disease mondo GARD:0002377 http://purl.obolibrary.org/obo/MONDO_0023099 FRAXD gard_rare CL:0000100 motor neuron biolink:Cell mondo BTO:0000312|FMA:83617|WBbt:0005409 An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement. http://purl.obolibrary.org/obo/CL_0000100 motoneuron CL:0000101 sensory neuron biolink:Cell mondo WBbt:0005759|BTO:0001037|FMA:84649|FBbt:00005124 Any neuron having a sensory function; an afferent neuron conveying sensory impulses. http://purl.obolibrary.org/obo/CL_0000101 GO:0015872 dopamine transport biolink:OntologyClass mondo The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. http://purl.obolibrary.org/obo/GO_0015872 MONDO:0023091 esophageal atresia coloboma talipes biolink:Disease mondo GARD:0002196 http://purl.obolibrary.org/obo/MONDO_0023091 gard_rare MONDO:0023089 erythroplakia biolink:Disease mondo UMLS:C0014818|GARD:0006378|NCIT:C3025|EFO:1001786 A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma. NCIT:C3025|UMLS:C0014818 http://purl.obolibrary.org/obo/MONDO_0023089 erythroplakia gard_rare MONDO:0023083 epimetaphyseal dysplasia cataract biolink:Disease mondo GARD:0002175 http://purl.obolibrary.org/obo/MONDO_0023083 gard_rare MONDO:0023084 epiphyseal dysplasia dysmorphism camptodactyly biolink:Disease mondo GARD:0002177 http://purl.obolibrary.org/obo/MONDO_0023084 gard_rare GO:0015888 thiamine transport biolink:OntologyClass mondo The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver. http://purl.obolibrary.org/obo/GO_0015888 thiamin transport|vitamin B1 transport GO:0015889 cobalamin transport biolink:OntologyClass mondo The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015889 vitamin B12 transport CL:0000114 surface ectodermal cell biolink:Cell mondo FMA:72552 http://purl.obolibrary.org/obo/CL_0000114 cell of surface ectoderm|surface ectoderm cell CL:0000115 endothelial cell biolink:Cell mondo FMA:66772|BTO:0001176|CALOHA:TS-0278 An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. http://purl.obolibrary.org/obo/CL_0000115 endotheliocyte CHEBI:50183 P450 inhibitor biolink:ChemicalSubstance mondo An enzyme inhibitor that interferes with the activity of cytochrome P450 involved in catalysis of organic substances. http://purl.obolibrary.org/obo/CHEBI_50183 P450 inhibitors|cytochrome P450 inhibitors|CYP2D6 inhbitor|CYP2D6 inhbitors|cytochrome P450 inhibitor UBERON:0000930 stomodeum biolink:AnatomicalEntity mondo Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. http://purl.obolibrary.org/obo/UBERON_0000930 oral ectoderm|stomodaeum|mouth primordium|primitive oral cavity|stomodeal-hypophyseal primordium|mouth pit|stomatodeum|oral pit GO:0003872 6-phosphofructokinase activity biolink:OntologyClass mondo Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate. http://purl.obolibrary.org/obo/GO_0003872 nucleotide triphosphate-dependent phosphofructokinase activity|phosphohexokinase activity|PFK|6-phosphofructokinase reduction|phosphofructokinase I activity|phospho-1,6-fructokinase activity|fructose 6-phosphokinase activity|D-fructose-6-phosphate 1-phosphotransferase activity|phosphofructokinase (phosphorylating)|ATP:D-fructose-6-phosphate 1-phosphotransferase activity|ATP-dependent phosphofructokinase activity|6-phosphofructose 1-kinase activity|fructose 6-phosphate kinase activity UBERON:0000931 proctodeum biolink:AnatomicalEntity mondo Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. http://purl.obolibrary.org/obo/UBERON_0000931 proctodaeum|anal pit|amnioproctodeal invagination|embryonic proctodaeum|anus porus GO:0015850 organic hydroxy compound transport biolink:OntologyClass mondo The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. http://purl.obolibrary.org/obo/GO_0015850 organic alcohol transport CHEBI:50177 dermatologic drug biolink:ChemicalSubstance mondo A drug used to treat or prevent skin disorders or for the routine care of skin. http://purl.obolibrary.org/obo/CHEBI_50177 dermatological agent|dermatologic agent|dermatologic drugs CHEBI:50176 keratolytic drug biolink:ChemicalSubstance mondo A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases. http://purl.obolibrary.org/obo/CHEBI_50176 skin-peeling agent|desquamating agent|keratolytic agent|keratolytic drugs UBERON:0000923 germ layer biolink:AnatomicalEntity mondo A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. http://purl.obolibrary.org/obo/UBERON_0000923 embryonic tissue|embryonic germ layers|primary germ layer|embryonic germ layer|germinal layer UBERON:0000924 ectoderm biolink:AnatomicalEntity mondo Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. http://purl.obolibrary.org/obo/UBERON_0000924 embryonic ectoderm UBERON:0000925 endoderm biolink:AnatomicalEntity mondo Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. http://purl.obolibrary.org/obo/UBERON_0000925 entoderm UBERON:0000926 mesoderm biolink:AnatomicalEntity mondo The middle germ layer of the embryo, between the endoderm and ectoderm. http://purl.obolibrary.org/obo/UBERON_0000926 mesodermal mantle|embryonic mesoderm|entire mesoderm UBERON:0000922 embryo biolink:AnatomicalEntity mondo Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/UBERON_0000922 developmental tissue|developing organism|embryonic organism UBERON:0000929 pharyngeal branch of vagus nerve biolink:AnatomicalEntity mondo Motor nerve of the pharynx, arises from the upper part of the ganglion nodosum, and consists principally of filaments from the cranial portion of the accessory nerve. http://purl.obolibrary.org/obo/UBERON_0000929 pharyngeal branch of vagus|pharyngeal branch of inferior vagal ganglion|ramus pharyngealis nervi vagalis|vagal pharyngeal branch|vagus nerve pharyngeal branch|tenth cranial nerve pharyngeal branch|ramus pharyngeus|ramus pharyngeus nervi vagi|pharyngeal branch UBERON:0000912 mucus biolink:AnatomicalEntity mondo Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. http://purl.obolibrary.org/obo/UBERON_0000912 UBERON:0000913 interstitial fluid biolink:AnatomicalEntity mondo Interstitial fluid is a bodily fluid consisting of a solution which bathes and surrounds the cells of multicellular animals. It is the main component of the extracellular fluid, which also includes plasma and transcellular fluid. http://purl.obolibrary.org/obo/UBERON_0000913 intercellular fluid|tissue fluid UBERON:0000915 thoracic segment of trunk biolink:AnatomicalEntity mondo Subdivision of trunk that lies between the head and the abdomen. http://purl.obolibrary.org/obo/UBERON_0000915 anterior subdivision of trunk|upper trunk|thorax|upper body CHEBI:25196 mercury molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25196 mercury molecular entities|mercury compounds GO:1904659 glucose transmembrane transport biolink:OntologyClass mondo The process in which glucose is transported across a membrane. http://purl.obolibrary.org/obo/GO_1904659 glucose transport CHEBI:25195 mercury atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25195 mercury|Quecksilber|azogue|liquid silver|mercure|Hg|mercurio|quicksilver|hydrargyrum|mercury|80Hg UBERON:0000916 abdomen biolink:AnatomicalEntity mondo The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0000916 abdominopelvic region|abdominopelvis|belly|adult abdomen|celiac region GO:0015837 amine transport biolink:OntologyClass mondo The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015837 amine/polyamine transport CHEBI:49169 D-dopa biolink:ChemicalSubstance mondo The D-enantiomer of dopa. http://purl.obolibrary.org/obo/CHEBI_49169 (+)-3-(3,4-dihydroxyphenyl)alanine|D-3,4-dihydroxyphenylalanine|dopa D-form|(+)-3,4-dihydroxyphenylalanine|3-hydroxy-D-tyrosine|(2R)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|D-dopa|3,4-dihydroxy-D-phenylalanine|D-3-(3,4-dihydroxyphenyl)alanine CHEBI:49168 dopa biolink:ChemicalSubstance mondo A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring. http://purl.obolibrary.org/obo/CHEBI_49168 dl-beta-(3,4-dihydroxyphenyl)-alpha-alanine|3-hydroxytyrosine|DL-3,4-dopa|dopa|(R,S)-dopa|3-hydroxy-DL-tyrosine|DL-dioxyphenylalanine|DL-dihydroxyphenylalanine|DL-beta-(3,4-dihydroxyphenyl)alanine|(+-)-3-(3,4-dihydroxyphenyl)alanine|beta-(3,4-dihydroxyphenyl)-DL-alpha-alanine|(+-)-dopa|3',4'-dihydroxyphenylalanine|2-amino-3-(3,4-dihydroxyphenyl)propanoic acid GO:0015833 peptide transport biolink:OntologyClass mondo The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015833 HGNC:7703 NDUFB8 biolink:OntologyClass mondo http://identifiers.org/hgnc/7703 HGNC:7704 NDUFB9 biolink:OntologyClass mondo http://identifiers.org/hgnc/7704 CHEBI:37175 organic hydride biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37175 organic hydrides CHEBI:37176 mononuclear parent hydride biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37176 mononuclear hydrides|mononuclear parent hydrides|mononuclear hydride HGNC:14450 LPIN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14450 OIO:Subset biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#Subset GO:0003867 4-aminobutyrate transaminase activity biolink:OntologyClass mondo Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid. http://purl.obolibrary.org/obo/GO_0003867 gamma-aminobutyrate aminotransaminase activity|gamma-aminobutyric acid aminotransferase activity|gamma-aminobutyric acid transaminase activity|gamma-aminobutyrate transaminase activity|glutamate-succinic semialdehyde transaminase activity|4-aminobutyric acid aminotransferase activity|4-aminobutyrate aminotransferase activity|4-aminobutanoate transaminase activity|gamma-amino-N-butyrate transaminase activity|gamma-aminobutyric transaminase activity|GABA transaminase activity|GABA aminotransferase activity|GABA transferase activity|aminobutyrate transaminase activity|aminobutyrate aminotransferase activity|beta-alanine aminotransferase HGNC:7707 NDUFS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7707 HGNC:7708 NDUFS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7708 HGNC:26444 UROC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26444 GO:0015849 organic acid transport biolink:OntologyClass mondo The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015849 HGNC:7710 NDUFS3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7710 GO:0015844 monoamine transport biolink:OntologyClass mondo The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015844 HGNC:7711 NDUFS4 biolink:OntologyClass mondo http://identifiers.org/hgnc/7711 HGNC:7714 NDUFS7 biolink:OntologyClass mondo http://identifiers.org/hgnc/7714 HGNC:14468 SLC26A8 biolink:OntologyClass mondo http://identifiers.org/hgnc/14468 HGNC:7713 NDUFS6 biolink:OntologyClass mondo http://identifiers.org/hgnc/7713 HGNC:7716 NDUFV1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7716 HGNC:7715 NDUFS8 biolink:OntologyClass mondo http://identifiers.org/hgnc/7715 MONDO:0023035 Eagle syndrome biolink:Disease mondo MESH:C538010|SCTID:609143007|ICD9:733.99|GARD:0009401 Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%. MESH:C538010|SNOMEDCT:609143007 http://purl.obolibrary.org/obo/MONDO_0023035 elongated styloid process which causes cervico facial pain tinnitus and otalgia|styloid-stylohoid syndrome|Eagle's syndrome|elongated styloid process syndrome gard_rare MONDO:0023037 obsolete elongated styloid process syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023037 MONDO:0023038 eccentrochondrodysplasia biolink:Disease mondo GARD:0006314 http://purl.obolibrary.org/obo/MONDO_0023038 gard_rare MONDO:0023039 eccrine mucinous carcinoma biolink:Disease mondo UMLS:C0346020|GARD:0010465 UMLS:C0346020 http://purl.obolibrary.org/obo/MONDO_0023039 gard_rare ECTO:9000172 inorganic molecular entity exposure biolink:OntologyClass mondo An exposure to inorganic molecular entity. http://purl.obolibrary.org/obo/ECTO_9000172 exposure to inorganic molecular entity ECTO:9000171 acetate exposure biolink:OntologyClass mondo An exposure to acetate. http://purl.obolibrary.org/obo/ECTO_9000171 exposure to acetate MONDO:0023030 dysmorphism cleft palate loose skin biolink:Disease mondo GARD:0002009 http://purl.obolibrary.org/obo/MONDO_0023030 gard_rare MONDO:0023031 dysostosis acral with facial and genital abnormalities biolink:Disease mondo GARD:0002013 http://purl.obolibrary.org/obo/MONDO_0023031 gard_rare MONDO:0023033 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023033 MONDO:0011056 Wilms tumor 4 biolink:Disease mondo MESH:C563336|UMLS:C1832426|OMIM:601363 http://identifiers.org/omim/601363|UMLS:C1832426|MESH:C563336 http://purl.obolibrary.org/obo/MONDO_0011056 Wilms tumor 4|Wilms tumor type 4|WT4|Wilms tumor 4; WT4|familial Wilms tumor 1 MONDO:0011055 distal monosomy 10p biolink:Disease mondo UMLS:C4304502|MESH:C563337|GARD:0001323|OMIM:601362|UMLS:C1832431|SCTID:719686003|ICD10:Q93.5|Orphanet:1580|NCIT:C130982 Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. SNOMEDCT:719686003|http://identifiers.org/omim/601362|UMLS:C1832431|ORPHA:1580|UMLS:C4304502|MESH:C563337|NCIT:C130982 http://purl.obolibrary.org/obo/MONDO_0011055 DiGeorge syndrome/velocardiofacial syndrome Complex type 2|10p deletion|monosomy 10p|partial monosomy 10p|DiGeorge syndrome type 2|telomeric deletion 10p|10p monosomy|10p13-p14 Deletion syndrome|distal 10p deletion|Dgs2|chromosome 10p deletion|distal monosomy type 10p|DiGeorge syndrome/velocardiofacial syndrome complex 2|monosomy 10pter|deletion 10p ordo_malformation_syndrome MONDO:0011058 autosomal dominant nonsyndromic deafness 9 biolink:Disease mondo UMLS:C1832425|DOID:0110593|MESH:C563335|OMIM:601369|ICD10:H90.3 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene. http://identifiers.org/omim/601369|UMLS:C1832425|DOID:0110593|MESH:C563335 http://purl.obolibrary.org/obo/MONDO_0011058 DFNA9|autosomal dominant nonsyndromic deafness type 9|deafness, autosomal dominant type 9|deafness, autosomal dominant 9|COCH autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in COCH|autosomal dominant deafness 9|deafness, autosomal dominant 9; DFNA9 MONDO:0011057 cerebrovascular disorder biolink:Disease mondo ICD9:434.91|DOID:6713|NCIT:C2938|MESH:D002561|ICD9:437.8|ICD9:430-438.99|EFO:0003763|ICD10:I67.9|ICD10:I60-I69|UMLS:C0007820|ICD10:I63.9|SCTID:62914000|ICD10:I60.I69|ICD9:437.9 A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. MESH:D002561|DOID:6713|NCIT:C2938|SNOMEDCT:62914000|UMLS:C0007820 http://purl.obolibrary.org/obo/MONDO_0011057 cerebrovascular disease|CVA|cerebrovascular accident|CVA (cerebral vascular accident)|cerebrovascular disorder|stroke|cerebral infarction MONDO:0011059 holoprosencephaly-craniosynostosis syndrome biolink:Disease mondo ICD10:Q04.2|UMLS:C1832424|OMIM:601370|Orphanet:2163|SCTID:715434005|MESH:C537684|GARD:0002454 Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features. http://identifiers.org/omim/601370|ORPHA:2163|UMLS:C1832424|MESH:C537684|SNOMEDCT:715434005 http://purl.obolibrary.org/obo/MONDO_0011059 Genoa syndrome|camera Lituania Cohen syndrome|holoprosencephaly craniosynostosis|Camero-Lituania-Cohen syndrome|Semilobar holoprosencephaly and primary craniosynostosis|holoprosencephaly, SEMILOBAR, with craniosynostosis ordo_malformation_syndrome CHEBI:76760 EC 3.1.* (ester hydrolase) inhibitor biolink:ChemicalSubstance mondo A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*). http://purl.obolibrary.org/obo/CHEBI_76760 ester hydrolase (EC 3.1.*) inhibitor|ester hydrolase inhibitors|EC 3.1.* inhibitor|EC 3.1.* inhibitors|ester hydrolase inhibitor|ester hydrolase (EC 3.1.*) inhibitors|EC 3.1.* (ester hydrolase) inhibitors MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome biolink:Disease mondo OMIM:601355|Orphanet:2516|MESH:C563341|SCTID:719379001|ICD10:Q87.8|GARD:0002098 Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. SNOMEDCT:719379001|ORPHA:2516|MESH:C563341|UMLS:C2931129|http://identifiers.org/omim/601355 http://purl.obolibrary.org/obo/MONDO_0011050 microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis|microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs|Ellis Yale Winter syndrome|Ellis-Yale-Winter syndrome ordo_malformation_syndrome HGNC:14432 TMEM237 biolink:OntologyClass mondo http://identifiers.org/hgnc/14432 MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma biolink:Disease mondo MESH:C536713|OMIM:601357|GARD:0000641|GARD:0000388|UMLS:C1832434 UMLS:C1832434|MESH:C536713|http://identifiers.org/omim/601357 http://purl.obolibrary.org/obo/MONDO_0011052 brachial AMELIA, cleft LIP, and holoprosencephaly|amelia cleft lip palate hydrocephalus iris coloboma|brachial amelia, forebrain defects, and Facial clefts|brachial AMELIA, cleft LIP, and holoprosencephaly; ACLH|bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele|brachial amelia, forebrain defects and facial clefts|ACLH gard_rare CHEBI:76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor biolink:ChemicalSubstance mondo Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitor|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitor|EC 3.5.* inhibitor|EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitors|EC 3.5.* inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitors MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type biolink:Disease mondo OMIM:601356|MESH:C537598|UMLS:C1832435|GARD:0004827 UMLS:C1832435|MESH:C537598|http://identifiers.org/omim/601356 http://purl.obolibrary.org/obo/MONDO_0011051 lethal short-limb skeletal dysplasia, Al Gazali type|lethal short limb skeletal dysplasia Al Gazali type|lethal neonatal short limb dwarfism gard_rare MONDO:0011054 autosomal recessive amelia biolink:Disease mondo UMLS:C1832432|Orphanet:1027|SCTID:726735000|ICD10:Q73.0|OMIM:601360|MESH:C563338 Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents. http://identifiers.org/omim/601360|SNOMEDCT:726735000|ORPHA:1027|UMLS:C1832432|MESH:C563338 http://purl.obolibrary.org/obo/MONDO_0011054 amelia, autosomal recessive ordo_malformation_syndrome MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome biolink:Disease mondo UMLS:C1303073|GARD:0000270|Orphanet:3051|MESH:C536116|SCTID:401046009|OMIM:601358 Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now. UMLS:C1303073|MESH:C536116|SNOMEDCT:401046009|ORPHA:3051|http://identifiers.org/omim/601358 http://purl.obolibrary.org/obo/MONDO_0011053 NBs|NICOLAIDES-Baraitser syndrome|sparse hair and mental retardation|NICOLAIDES-Baraitser syndrome; NCBRS|sparse hair and intellectual disability|Nicolaides-Baraitser syndrome|NCBRS ordo_malformation_syndrome MONDO:0023023 neonatal dacryocystitis biolink:Disease mondo SCTID:23735003|NCIT:C116819|UMLS:C0270178 Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection. UMLS:C0270178|SNOMEDCT:23735003|NCIT:C116819 http://purl.obolibrary.org/obo/MONDO_0023023 Neonatal dacryocystitis|Neonatal Dacryocystitis|neonatal dacryocystitis MONDO:0023020 dwarfism deafness retinitis pigmentosa biolink:Disease mondo GARD:0001985 http://purl.obolibrary.org/obo/MONDO_0023020 gard_rare MONDO:0023021 dwarfism lethal type advanced bone age biolink:Disease mondo GARD:0001986 http://purl.obolibrary.org/obo/MONDO_0023021 gard_rare MONDO:0023022 dwarfism thin bones multiple fractures biolink:Disease mondo GARD:0001992 http://purl.obolibrary.org/obo/MONDO_0023022 gard_rare MONDO:0011045 MMEP syndrome biolink:Disease mondo SCTID:715533002|UMLS:C4275099|Orphanet:3434|GARD:0003693|UMLS:C1832440|ICD10:Q87.8|MESH:C537686|OMIM:601349 A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. http://identifiers.org/omim/601349|ORPHA:3434|UMLS:C1832440|SNOMEDCT:715533002|MESH:C537686|UMLS:C4275099 http://purl.obolibrary.org/obo/MONDO_0011045 microphthalmia, syndromic 8|microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism|MCOPS8|microcephaly microphthalmia ectrodactyly of lower limbs and prognathism|syndromic microphthalmia type 8|MMEP|Viljoen Smart syndrome|microphthalmia syndromic 8|microphthalmia, syndromic 8; MCOPS8|microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome|Viljoen-Smart syndrome ordo_malformation_syndrome MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia biolink:Disease mondo OMIM:601348|MESH:C563344|UMLS:C1832441 http://identifiers.org/omim/601348|UMLS:C1832441|MESH:C563344 http://purl.obolibrary.org/obo/MONDO_0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome biolink:Disease mondo MESH:C535928|SCTID:716238003|Orphanet:3218|OMIM:601351|GARD:0001688|UMLS:C1832438 This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). ORPHA:3218|http://identifiers.org/omim/601351|UMLS:C1832438|SNOMEDCT:716238003|MESH:C535928 http://purl.obolibrary.org/obo/MONDO_0011047 deafness, femoral epiphyseal dysplasia, short stature and developmental delay|growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction|chitty-Hall-Baraitser syndrome|deafness, epiphyseal dysplasia, short stature ordo_malformation_syndrome MONDO:0011046 short stature, Brussels type biolink:Disease mondo Orphanet:2867|SCTID:719213009|UMLS:C1832439|ICD10:Q87.1|GARD:0004838|OMIM:601350|MESH:C537121 This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism. http://identifiers.org/omim/601350|MESH:C537121|UMLS:C1832439|ORPHA:2867|SNOMEDCT:719213009 http://purl.obolibrary.org/obo/MONDO_0011046 familial short stature with facial dysmorphism and osteochondrodysplastic lesions|Mievis-Verellen-Dumoulin syndrome|short stature syndrome, Brussels type|Mievis Verellen-Dumoulin syndrome ordo_malformation_syndrome MONDO:0011049 fine-Lubinsky syndrome biolink:Disease mondo GARD:0000958|Orphanet:1272|MESH:C537933|ICD10:Q87.8|OMIM:601353|UMLS:C0795941|SCTID:720955004 Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. SNOMEDCT:720955004|http://identifiers.org/omim/601353|ORPHA:1272|UMLS:C0795941|MESH:C537933 http://purl.obolibrary.org/obo/MONDO_0011049 brachycephaly, deafness, cataract, microstomia, and mental retardation|brachycephaly-deafness-cataract-intellectual disability syndrome|brachycephaly, deafness, cataract, microstomia, and intellectual disability|brachycephaly, deafness, cataract and intellectual disability|fine-Lubinsky syndrome|brachycephaly, deafness, cataract and mental retardation gard_rare|ordo_malformation_syndrome MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome biolink:Disease mondo Orphanet:1948|ICD10:Q87.8|GARD:0000836|OMIM:601352 Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children. http://identifiers.org/omim/601352|MESH:C537662|ORPHA:1948 http://purl.obolibrary.org/obo/MONDO_0011048 Battaglia-Neri syndrome|mental retardation, microcephaly, epilepsy, and coarse face|epilepsy - microcephaly - skeletal dysplasia|intellectual disability, microcephaly, epilepsy, and coarse face ordo_malformation_syndrome ECTO:9000175 metal cation exposure biolink:OntologyClass mondo An exposure to metal cation. http://purl.obolibrary.org/obo/ECTO_9000175 exposure to metal cation MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type biolink:Disease mondo GARD:0010526|SCTID:715576000|MESH:C563347|OMIM:601345|UMLS:C1832444|Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant. http://identifiers.org/omim/601345|SNOMEDCT:715576000|UMLS:C1832444|ORPHA:69083|MESH:C563347 http://purl.obolibrary.org/obo/MONDO_0011041 ectodermal dysplasia, hair/Tooth type|ectodermal dysplasia with natal teeth Turnpenny type|ectodermal dysplasia with natal teeth, Turnpenny type ordo_malformation_syndrome|gard_rare CHEBI:76775 EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor biolink:ChemicalSubstance mondo An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of any phosphoric monoester hydrolase (EC 3.1.3.*). http://purl.obolibrary.org/obo/CHEBI_76775 inhibitors of phosphoric monoester hydrolase (EC 3.1.3.*)|phosphoric monoester hydrolase inhibitor|phosphoric monoester hydrolase inhibitors|inhibitor of phosphoric monoester hydrolase (EC 3.1.3.*)|EC 3.1.3.* inhibitor|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitor|inhibitor of phosphoric monoester hydrolase|inhibitors of phosphoric monoester hydrolase|EC 3.1.3.* (phosphoric monoester hydrolase) inhibitors|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitors|EC 3.1.3.* inhibitors MONDO:0011040 spinal dysplasia, Anhalt type biolink:Disease mondo MESH:C563348|UMLS:C1832464|OMIM:601344 http://identifiers.org/omim/601344|UMLS:C1832464|MESH:C563348 http://purl.obolibrary.org/obo/MONDO_0011040 spinal dysplasia, Anhalt type MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay biolink:Disease mondo UMLS:C1832442|MESH:C563345|OMIM:601347 http://identifiers.org/omim/601347|UMLS:C1832442|MESH:C563345 http://purl.obolibrary.org/obo/MONDO_0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay CHEBI:76773 EC 3.1.1.* (carboxylic ester hydrolase) inhibitor biolink:ChemicalSubstance mondo An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*). http://purl.obolibrary.org/obo/CHEBI_76773 EC 3.1.1.* inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitors|EC 3.1.1.* (carboxylic ester hydrolase) inhibitors|EC 3.1.1.* inhibitors MONDO:0011042 Martinez-Frias syndrome biolink:Disease mondo UMLS:C1832443|Orphanet:137862|OMIM:601346|UMLS:CN199270 http://identifiers.org/omim/601346|ORPHA:137862|UMLS:C1832443|UMLS:CN199270 http://purl.obolibrary.org/obo/MONDO_0011042 Martinez-Frias syndrome|pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula|Martínez-Frías syndrome MONDO:0023013 Duker-Weiss-Siber syndrome biolink:Disease mondo MESH:C535719|UMLS:C2930993|GARD:0001918 UMLS:C2930993|MESH:C535719 http://purl.obolibrary.org/obo/MONDO_0023013 microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism|Duker Weiss Siber syndrome|microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism gard_rare MONDO:0023015 duodenal atresia tetralogy of fallot biolink:Disease mondo GARD:0001919 http://purl.obolibrary.org/obo/MONDO_0023015 gard_rare MONDO:0023016 duplication of leg mirror foot biolink:Disease mondo GARD:0001976 http://purl.obolibrary.org/obo/MONDO_0023016 gard_rare MONDO:0023017 duplication of the thumb unilateral biphalangeal biolink:Disease mondo GARD:0001977 http://purl.obolibrary.org/obo/MONDO_0023017 gard_rare MONDO:0023018 dupont sellier chochillon syndrome biolink:Disease mondo GARD:0001983 http://purl.obolibrary.org/obo/MONDO_0023018 gard_rare MONDO:0023019 dwarfism bluish sclerae biolink:Disease mondo GARD:0001984 http://purl.obolibrary.org/obo/MONDO_0023019 gard_rare HGNC:14409 SLC25A19 biolink:OntologyClass mondo http://identifiers.org/hgnc/14409 MONDO:0023011 Wilson-Mikity syndrome biolink:Disease mondo UMLS:C0270171|GARD:0010495|SCTID:51577008 SNOMEDCT:51577008|UMLS:C0270171 http://purl.obolibrary.org/obo/MONDO_0023011 Pulmonary dysmaturity syndrome|Pulmonary dysmaturity|Wilson-Mikity syndrome|pulmonary dysmaturity|wilson-mikity syndrome gard_rare MONDO:0011034 odontomicronychial dysplasia biolink:Disease mondo Orphanet:1811|GARD:0004053|MESH:C537741|UMLS:C1832473|OMIM:601319 Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. http://identifiers.org/omim/601319|UMLS:C1832473|MESH:C537741|ORPHA:1811 http://purl.obolibrary.org/obo/MONDO_0011034 odontomicronychial dysplasia|ectodermal dysplasia, nail/Tooth type|odonto-micronychial dysplasia gard_rare|ordo_malformation_syndrome MONDO:0013697 MRT29 biolink:Disease mondo UMLS:C3280525|OMIM:614333 UMLS:C3280525|http://identifiers.org/omim/614333 http://purl.obolibrary.org/obo/MONDO_0013697 mental retardation, autosomal recessive 29; MRT29|intellectual disability, autosomal recessive 29; MRT29|MRT29|mental retardation, autosomal recessive 29|intellectual disability, autosomal recessive 29 CL:0000185 myoepithelial cell biolink:Cell mondo FMA:67799|CALOHA:TS-2379|BTO:0002309 Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. http://purl.obolibrary.org/obo/CL_0000185 basket epithelial cell|myoepitheliocyte MONDO:0013698 arthrogryposis, distal, type 1B biolink:Disease mondo OMIM:614335|UMLS:C3280526 UMLS:C3280526|http://identifiers.org/omim/614335 http://purl.obolibrary.org/obo/MONDO_0013698 arthrogryposis, distal, type 1B; DA1B|arthrogryposis, distal, type 1B|DA1B MONDO:0011033 type 1 diabetes mellitus 13 biolink:Disease mondo OMIM:601318|ICD10:E10|UMLS:C1832474|MESH:C563352|DOID:0110752 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34. http://identifiers.org/omim/601318|UMLS:C1832474|MESH:C563352|DOID:0110752 http://purl.obolibrary.org/obo/MONDO_0011033 insulin-dependent diabetes mellitus 13|IDDM13|diabetes mellitus, insulin-dependent, 13; IDDM13|diabetes mellitus, insulin-dependent, 13 CL:0000186 myofibroblast cell biolink:Cell mondo An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. http://purl.obolibrary.org/obo/CL_0000186 MFB CL:0000187 muscle cell biolink:Cell mondo BTO:0000888|CALOHA:TS-2032|FMA:67328|WBbt:0003675|FBbt:00005074|BTO:0000902 A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. http://purl.obolibrary.org/obo/CL_0000187 muscle fiber|myocyte MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 biolink:Disease mondo UMLS:C1860896|MESH:C566039|DOID:0070273|OMIM:614331 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene. http://identifiers.org/omim/614331|DOID:0070273|MESH:C566039|UMLS:C1860896 http://purl.obolibrary.org/obo/MONDO_0013695 colon cancer, hereditary nonpolyposis, type 6|colorectal cancer, hereditary nonpolyposis, type 6; HNPCC6|colorectal cancer, hereditary nonpolyposis, type 6|TGFBR2 hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in TGFBR2|HNPCC6 MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome biolink:Disease mondo UMLS:C1832472|OMIM:601322|GARD:0004437|MESH:C536336|SCTID:763821001|Orphanet:2941|ICD10:Q87.8 Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. http://identifiers.org/omim/601322|UMLS:C1832472|ORPHA:2941|MESH:C536336|SNOMEDCT:763821001 http://purl.obolibrary.org/obo/MONDO_0011036 porencephaly cerebellar hypoplasia internal malformations|Bonnemann-Meinecke syndrome|Bonnemann Meinecke syndrome|porencephaly, cerebellar hypoplasia, and internal malformations ordo_malformation_syndrome MONDO:0011035 neurofibromatosis-Noonan syndrome biolink:Disease mondo GARD:0000372|MESH:C537393|ICD10:Q87.1|OMIM:601321|Orphanet:638|SCTID:715344006 Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS). UMLS:C2931482|http://identifiers.org/omim/601321|MESH:C537393|MESH:D009456|ORPHA:638|UMLS:C0553586|SNOMEDCT:715344006 http://purl.obolibrary.org/obo/MONDO_0011035 neurofibromatosis with Noonan phenotype|Noonan neurofibromatosis syndrome|NFNS|neurofibromatosis-Noonan syndrome; NFNS|neurofibromatosis type 1-Noonan syndrome|Noonan-neurofibromatosis syndrome|neurofibromatosis-Noonan syndrome ordo_malformation_syndrome|gard_rare MONDO:0013696 chromosome 2P16.3 deletion syndrome biolink:Disease mondo UMLS:C3808494|OMIM:614332 http://identifiers.org/omim/614332|UMLS:C3808494 http://purl.obolibrary.org/obo/MONDO_0013696 chromosome 2P16.3 deletion syndrome|schizophrenia 17 MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome biolink:Disease mondo MESH:C535351|OMIM:601338|GARD:0001188|SCTID:720634003|Orphanet:1171 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. http://identifiers.org/omim/601338|ORPHA:1171|SNOMEDCT:720634003|MESH:C535351 http://purl.obolibrary.org/obo/MONDO_0011038 cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss|cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; CAPOS|CAPOS|CAPOS syndrome|cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss|cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss ordo_disease HGNC:14412 AGXT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14412 MONDO:0011037 renal dysplasia, cystic, susceptibility to biolink:Disease mondo GARD:0004658|MESH:C537755|OMIM:601331 http://identifiers.org/omim/601331|MESH:C537755 http://purl.obolibrary.org/obo/MONDO_0011037 renal dysplasia, cystic, susceptibility to; CYSRD|renal dysplasia, cystic, susceptibility to|CYSRD|diffuse cystic renal dysplasia|renal dysplasia diffuse cystic predisposition MONDO:0013699 colorectal cancer, hereditary nonpolyposis, type 4 biolink:Disease mondo MESH:C563971|OMIM:614337|UMLS:C1838333|DOID:0070275 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene. MESH:C563971|DOID:0070275|http://identifiers.org/omim/614337|UMLS:C1838333 http://purl.obolibrary.org/obo/MONDO_0013699 PMS2 hereditary nonpolyposis colon cancer|HNPCC4|hereditary nonpolyposis colon cancer caused by mutation in PMS2|colorectal cancer, hereditary nonpolyposis, type 4|colorectal cancer, hereditary nonpolyposis, type 4; HNPCC4 MONDO:0011039 atrophia maculosa varioliformis cutis, familial biolink:Disease mondo OMIM:601341|UMLS:C1832465|MESH:C563349 MESH:C563349|http://identifiers.org/omim/601341|UMLS:C1832465 http://purl.obolibrary.org/obo/MONDO_0011039 AMVC|atrophia maculosa varioliformis cutis, familial|atrophia MACULOSA VARIOLIFORMIS cutis, familial; AMVC|varioliform macular atrophy of the skin MONDO:0013690 Pitt-Hopkins-like syndrome 2 biolink:Disease mondo OMIM:614325|UMLS:C3280479 Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene. UMLS:C3280479|http://identifiers.org/omim/614325 http://purl.obolibrary.org/obo/MONDO_0013690 Pitt-Hopkins-like syndrome caused by mutation in NRXN1|Pitt-Hopkins-like syndrome 2|PTHSL2|NRXN1 Pitt-Hopkins-like syndrome|Pitt-Hopkins-like syndrome 2; PTHSL2|Pitt-Hopkins-like syndrome type 2 CL:0000181 obsolete metabolising cell biolink:Cell mondo A cell whose primary function is intermediary metabolism. http://purl.obolibrary.org/obo/CL_0000181 MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 biolink:Disease mondo UMLS:C3280501|OMIM:614328 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene. http://identifiers.org/omim/614328|UMLS:C3280501 http://purl.obolibrary.org/obo/MONDO_0013693 neonatal inflammatory skin and bowel disease caused by mutation in ADAM17|inflammatory skin and bowel disease, neonatal, 1|inflammatory skin and bowel disease, neonatal, 1; NISBD1|NISBD1|ADAM17 neonatal inflammatory skin and bowel disease|inflammatory skin and bowel disease, neonatal, type 1 MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of biolink:Disease mondo OMIM:601315 http://identifiers.org/omim/601315 http://purl.obolibrary.org/obo/MONDO_0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of|Ebcr MONDO:0013694 MRT31 biolink:Disease mondo UMLS:C3280523|OMIM:614329 http://identifiers.org/omim/614329|UMLS:C3280523 http://purl.obolibrary.org/obo/MONDO_0013694 intellectual disability, autosomal recessive 31; MRT31|MRT31|intellectual disability, autosomal recessive 31|mental retardation, autosomal recessive 31|mental retardation, autosomal recessive 31; MRT31 CL:0000182 hepatocyte biolink:Cell mondo BTO:0000575|FMA:14515|CALOHA:TS-0454 The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated. http://purl.obolibrary.org/obo/CL_0000182 MONDO:0013691 Feingold syndrome type 2 biolink:Disease mondo OMIM:614326|UMLS:C3280489|Orphanet:391646|ICD10:Q87.8 Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures. http://identifiers.org/omim/614326|ORPHA:391646|UMLS:C3280489 http://purl.obolibrary.org/obo/MONDO_0013691 microcephaly-digital anomalies-normal intelligence syndrome type 2|Feingold syndrome 2; FGLDS2|FGLDS2|Feingold syndrome 2|brachydactyly with short stature and microcephaly|FS2|Feingold syndrome type 2|brachydactyly-short stature-microcephaly syndrome|Brunner-Winter syndrome type 2|MMT type 2|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2 ordo_clinical_subtype MONDO:0011032 autosomal dominant nonsyndromic deafness 11 biolink:Disease mondo ICD10:H90.3|OMIM:601317|MESH:C563353|UMLS:C1832475|DOID:0110543 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. http://identifiers.org/omim/601317|UMLS:C1832475|DOID:0110543|MESH:C563353 http://purl.obolibrary.org/obo/MONDO_0011032 autosomal dominant deafness 11|deafness, autosomal dominant type 11|autosomal dominant nonsyndromic deafness type 11|autosomal dominant nonsyndromic deafness caused by mutation in MYO7A|MYO7A autosomal dominant nonsyndromic deafness|DFNA11|deafness, autosomal dominant 11; DFNA11|deafness, autosomal dominant 11 CL:0000183 contractile cell biolink:Cell mondo A cell whose primary function is to shorten. http://purl.obolibrary.org/obo/CL_0000183 MONDO:0011031 autosomal dominant nonsyndromic deafness 10 biolink:Disease mondo ICD10:H90.3|UMLS:C1832476|OMIM:601316|MESH:C563354|DOID:0110542 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene. http://identifiers.org/omim/601316|UMLS:C1832476|DOID:0110542|MESH:C563354 http://purl.obolibrary.org/obo/MONDO_0011031 deafness, autosomal dominant 10; DFNA10|autosomal dominant deafness 10|deafness, autosomal dominant type 10|EYA4 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 10|autosomal dominant nonsyndromic deafness caused by mutation in EYA4|DFNA10|deafness, autosomal dominant 10 MONDO:0013692 BAP1-related tumor predisposition syndrome biolink:Disease mondo OMIM:614327|GARD:0013219|Orphanet:289539|UMLS:C3280492|SCTID:765057007 BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape. http://identifiers.org/omim/614327|ORPHA:289539|SNOMEDCT:765057007|UMLS:C3280492 http://purl.obolibrary.org/obo/MONDO_0013692 TPDS|tumor susceptibility linked to germline BAP1 mutations|tumor predisposition syndrome; TPDS|BAP1 tumor predisposition syndrome|tumor predisposition syndrome ordo_disease MONDO:0023002 double discordia biolink:Disease mondo GARD:0001905 http://purl.obolibrary.org/obo/MONDO_0023002 corrected transposition|atrio-ventricular and ventriculo-arterial double Discordia gard_rare HGNC:26404 NADK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26404 MONDO:0023003 double fingernail of fifth finger biolink:Disease mondo GARD:0001906 http://purl.obolibrary.org/obo/MONDO_0023003 gard_rare MONDO:0023005 double uterus-hemivagina-renal agenesis biolink:Disease mondo GARD:0001910 http://purl.obolibrary.org/obo/MONDO_0023005 gard_rare MONDO:0023006 doxorubicin induced cardiomyopathy biolink:Disease mondo GARD:0006285 http://purl.obolibrary.org/obo/MONDO_0023006 gard_rare MONDO:0025667 limbal stem cell deficiency biolink:Disease mondo Orphanet:171673|UMLS:C1561989 http://purl.obolibrary.org/obo/MONDO_0025667 ordo_disease MONDO:0023007 drachtman weinblatt sitarz syndrome biolink:Disease mondo GARD:0001913|UMLS:C2930947|MESH:C535603 MESH:C535603|UMLS:C2930947 http://purl.obolibrary.org/obo/MONDO_0023007 drachtman weinblatt sitarz syndrome|marrow hypoplasia associated with congenital neurologic anomalies gard_rare MONDO:0023008 obsolete drachtman weinblatt sitarz syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023008 MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome biolink:Disease mondo MESH:C563370|OMIM:601217|Orphanet:1014|SCTID:720981000 This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. SNOMEDCT:720981000|MESH:C563370|http://identifiers.org/omim/601217|ORPHA:1014 http://purl.obolibrary.org/obo/MONDO_0011019 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism|alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism|Devriendt-Vandenberghe-Fryns syndrome ordo_disease HGNC:26401 MARVELD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26401 MONDO:0023000 dobrow syndrome biolink:Disease mondo GARD:0001895 http://purl.obolibrary.org/obo/MONDO_0023000 gard_rare MONDO:0013686 distal myopathy, Tateyama type biolink:Disease mondo Orphanet:488650|UMLS:C3280443|SCTID:711265009|OMIM:614321 Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability. UMLS:C3280443|http://identifiers.org/omim/614321|SNOMEDCT:711265009|ORPHA:488650 http://purl.obolibrary.org/obo/MONDO_0013686 myopathy, distal, Tateyama type; MPDT|MPDT|myopathy, distal, Tateyama type ordo_disease MONDO:0011023 hereditary mixed polyposis syndrome biolink:Disease mondo ICD10:D12.6|MESH:C563365|UMLS:CN240759|Orphanet:157794 Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. ORPHA:157794|MESH:C563365|UMLS:CN240759 http://purl.obolibrary.org/obo/MONDO_0011023 HMPS ordo_disease MONDO:0011022 Potocki-Shaffer syndrome biolink:Disease mondo ICD10:Q93.5|SCTID:702346005|NCIT:C75456|Orphanet:52022|OMIM:601224|GARD:0009762|ICD9:758.39|UMLS:C1832588|MESH:C538356 Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). ORPHA:52022|SNOMEDCT:702346005|http://identifiers.org/omim/601224|MESH:C538356|UMLS:C1832588|NCIT:C75456 http://purl.obolibrary.org/obo/MONDO_0011022 PSS|Defect11 syndrome|chromosome 11P11.2 deletion syndrome|proximal 11P deletion syndrome|deletion of chromosome 11p11.2|proximal 11p deletion syndrome|11p11.2 deletion|Potocki-Shaffer syndrome ordo_malformation_syndrome CL:0000197 sensory receptor cell biolink:Cell mondo A cell that is capable of detection of a stimulus involved in sensory perception. http://purl.obolibrary.org/obo/CL_0000197 receptor cell MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 biolink:Disease mondo Orphanet:284282|DOID:0080060|UMLS:C3280452|ICD10:G11.1|OMIM:614322 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. UMLS:C3280452|http://identifiers.org/omim/614322|DOID:0080060|ORPHA:284282 http://purl.obolibrary.org/obo/MONDO_0013687 WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|autosomal recessive spinocerebellar ataxia type 12|spinocerebellar ataxia, autosomal recessive 12|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency|WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|spinocerebellar ataxia, autosomal recessive 12; SCAR12|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX|spinocerebellar ataxia with mental retardation and epilepsy|SCAR12|spinocerebellar ataxia with intellectual disability and epilepsy|spinocerebellar ataxia, autosomal recessive type 12 ordo_disease MONDO:0013684 VUR6 biolink:Disease mondo OMIM:614319|UMLS:C3280441 UMLS:C3280441|http://identifiers.org/omim/614319 http://purl.obolibrary.org/obo/MONDO_0013684 vesicoureteral reflux 6; VUR6|VUR6|vesicoureteral reflux 6 MONDO:0011025 Cayman type cerebellar ataxia biolink:Disease mondo Orphanet:94122|OMIM:601238|UMLS:C1832585|MESH:C563363|SCTID:717332007|ICD10:G11.0|DOID:0060694 Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. MESH:C563363|SNOMEDCT:717332007|ORPHA:94122|DOID:0060694|http://identifiers.org/omim/601238|UMLS:C1832585 http://purl.obolibrary.org/obo/MONDO_0011025 cerebellar ataxia, CAYMAN type; ATCAY|Cayman cerebellar ataxia|ATCAY|Cayman ataxia|cerebellar ataxia, Cayman type ordo_disease MONDO:0013685 pancreatic cancer, susceptibility to, 4 biolink:Disease mondo OMIM:614320 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene. http://identifiers.org/omim/614320 http://purl.obolibrary.org/obo/MONDO_0013685 PNCA4|pancreatic cancer, susceptibility to, type 4|BRCA1 familial pancreatic carcinoma|pancreatic cancer, susceptibility to, 4; PNCA4|familial pancreatic carcinoma caused by mutation in BRCA1|susceptibility to pancreatic cancer 4|pancreatic cancer, susceptibility to, 4 predisposition MONDO:0011024 dermatitis herpetiformis, familial biolink:Disease mondo GARD:0001917|UMLS:C1832586|OMIM:601230|MESH:C538218 Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone. http://identifiers.org/omim/601230|MESH:C538218|UMLS:C1832586 http://purl.obolibrary.org/obo/MONDO_0011024 hereditary dermatitis herpetiformis|dermatitis herpetiformis, familial|DH|Brocq-Duhring disease|Duhring Brocq disease|Duhring's disease gard_rare MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 biolink:Disease mondo OMIM:601283|MESH:C563359|UMLS:C1832544 MESH:C563359|http://identifiers.org/omim/601283|UMLS:C1832544 http://purl.obolibrary.org/obo/MONDO_0011027 diabetes mellitus, noninsulin-dependent, 1|diabetes mellitus, noninsulin-dependent, type 1|diabetes mellitus, noninsulin-dependent, 1; NIDDM1|NIDDM1|noninsulin-dependent diabetes mellitus 1 MONDO:0011026 autosomal recessive congenital ichthyosis 4A biolink:Disease mondo GARD:0009733|MESH:C537264|OMIM:601277|DOID:0060712|ICD10:Q80.2 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene. DOID:0060712|http://identifiers.org/omim/601277|MESH:C537264 http://purl.obolibrary.org/obo/MONDO_0011026 autosomal recessive congenital ichthyosis type 4A|ICR2B|LI2|ichthyosis lamellar 2|ichthyosis congenita IIB|ichthyosis, congenital, autosomal recessive type 4A|lamellar ichthyosis, type 2|ichthyosis, lamellar, 2, formerly|ichthyosis, congenital, autosomal recessive 4A|lamellar ichthyosis 2|ichthyosis, lamellar, 2|ichthyosis, congenital, autosomal recessive 4A; ARCI4A|ichthyosis congenita 2B|ARCI4A MONDO:0013688 linear and whorled nevoid hypermelanosis biolink:Disease mondo NCIT:C3924|ICD10:L81.4|UMLS:C1304501|OMIM:614323|GARD:0011004|Orphanet:79150|UMLS:C0263579|SCTID:403803002 Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism. http://identifiers.org/omim/614323|UMLS:C1304501|NCIT:C3924|SNOMEDCT:403803002|ORPHA:79150|UMLS:C0263579 http://purl.obolibrary.org/obo/MONDO_0013688 nevoid hypermelanosis, linear and whorled|zebra-like hyperpigmentation|melanosis Neviformis|LWNH|linear papular ectodermal-mesodermal hamartoma|zosteriform lentiginous nevus|reticulate hyperpigmentation of Iijima|linear and whorled hypermelanosis|Becker Nevus|zosteriform hyperpigmentation|pigmented hairy Epidermal Nevus|nevoid hypermelanosis, linear and whorled; LWNH|Becker's Nevus|pigmented hairy Nevus of Becker|progressive cribriform and zosteriform hyperpigmentation|hyperpigmentation, progressive cribriform and zosteriform ordo_disease|gard_rare MONDO:0011029 myeloid tumor suppressor biolink:Disease mondo OMIM:601308 http://identifiers.org/omim/601308 http://purl.obolibrary.org/obo/MONDO_0011029 myeloid tumor suppressor|myeloid leukemia-related locus MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F biolink:Disease mondo SCTID:718177001|Orphanet:219|OMIM:601287|GARD:0008573|DOID:0110280|ICD10:G71.0|MESH:C535896 Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal. SNOMEDCT:718177001|MESH:C535896|http://identifiers.org/omim/601287|ORPHA:219|DOID:0110280 http://purl.obolibrary.org/obo/MONDO_0011028 SGCD autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|LGMD2F|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD|muscular dystrophy, limb-girdle, type 2F; LGMD2F|delta-sarcoglycanopathy|limb-girdle muscular dystrophy type 2F|muscular dystrophy limb-girdle with delta-sarcoglyan deficiency|muscular dystrophy, limb-girdle, type 2F gard_rare|ordo_disease MONDO:0013689 ovarian dysgenesis 3 biolink:Disease mondo UMLS:C3280471|OMIM:614324 Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene. UMLS:C3280471|http://identifiers.org/omim/614324 http://purl.obolibrary.org/obo/MONDO_0013689 ovarian dysgenesis 3|ODG3|PSMC3IP 46 XX gonadal dysgenesis|ovarian dysgenesis type 3|46 XX gonadal dysgenesis caused by mutation in PSMC3IP|ovarian dysgenesis 3; ODG3 CL:0000192 smooth muscle cell biolink:Cell mondo FMA:14072|BTO:0004576|CALOHA:TS-2159 A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). http://purl.obolibrary.org/obo/CL_0000192 non-striated muscle cell|smooth muscle fiber|SMCs|myocytes, smooth muscle MONDO:0013682 VUR4 biolink:Disease mondo UMLS:C3280439|OMIM:614317 http://identifiers.org/omim/614317|UMLS:C3280439 http://purl.obolibrary.org/obo/MONDO_0013682 vesicoureteral reflux 4; VUR4|VUR4|vesicoureteral reflux 4 ECTO:9000156 water exposure biolink:OntologyClass mondo An exposure to water. http://purl.obolibrary.org/obo/ECTO_9000156 exposure to water MONDO:0013683 VUR5 biolink:Disease mondo OMIM:614318|UMLS:C3280440 http://identifiers.org/omim/614318|UMLS:C3280440 http://purl.obolibrary.org/obo/MONDO_0013683 vesicoureteral reflux 5; VUR5|VUR5|vesicoureteral reflux 5 MONDO:0011021 neuronal intestinal dysplasia, type b biolink:Disease mondo UMLS:C1832589|OMIM:601223 http://identifiers.org/omim/601223|UMLS:C1832589 http://purl.obolibrary.org/obo/MONDO_0011021 nid B|neuronal intestinal dysplasia, type b MONDO:0013680 cognitive impairment with or without cerebellar ataxia biolink:Disease mondo UMLS:C3280415|OMIM:614306 http://identifiers.org/omim/614306|UMLS:C3280415 http://purl.obolibrary.org/obo/MONDO_0013680 cognitive impairment with or without cerebellar ataxia|cognitive impairment with or without cerebellar ataxia; CIAT|CIAT MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome biolink:Disease mondo UMLS:C1832592|SCTID:722113001|GARD:0000404|MESH:C536062|OMIM:601220|Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. http://identifiers.org/omim/601220|SNOMEDCT:722113001|UMLS:C1832592|ORPHA:2786|MESH:C536062 http://purl.obolibrary.org/obo/MONDO_0011020 osteoporosis oculocutaneous hypopigmentation syndrome|OOCH|osteoporosis and oculocutaneous hypopigmentation syndrome|osteoporosis and oculocutaneous hypopigmentation syndrome; OOCH|OOCH syndrome|Hernández-Fragoso syndrome|OOCHS ordo_malformation_syndrome|gard_rare MONDO:0013681 alpha-methylacyl-CoA racemase deficiency biolink:Disease mondo SCTID:700463002|MESH:C565768|DOID:0060602|NCIT:C119677|EFO:1001980|OMIM:614307|UMLS:C3280428 A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy. http://identifiers.org/omim/614307|NCIT:C119677|SNOMEDCT:700463002|MESH:C565768|DOID:0060602|UMLS:C3280428 http://purl.obolibrary.org/obo/MONDO_0013681 ALPHA-methylacyl-CoA racemase deficiency; AMACRD|AMACR|alpha-methylacyl-CoA racemase deficiency|AMACR deficiency|AMACRD|Amacr deficiency MONDO:0023079 epidermal nevus vitamin D resistant rickets biolink:Disease mondo GARD:0002136 http://purl.obolibrary.org/obo/MONDO_0023079 gard_rare GO:0052803 imidazole-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving imidazoles, five-membered organic heterocycle containing two nitrogen atoms at positions 1 and 3, or any of its derivatives; compounds containing an imidazole skeleton. http://purl.obolibrary.org/obo/GO_0052803 imidazole metabolism MONDO:0011090 isolated hereditary congenital facial paralysis biolink:Disease mondo MESH:C563309|OMIMPS:601471|ICD10:Q87.0|GARD:0008583|SCTID:733091002|Orphanet:306527|UMLS:C4518577 Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. MESH:C563309|SNOMEDCT:733091002|UMLS:C4518577|ORPHA:306527 http://purl.obolibrary.org/obo/MONDO_0011090 HCFP|Moebius syndrome 2 (formerly)|Mobius syndrome 2 (formerly)|facial paresis, hereditary congenital|facial paresis hereditary congenital|MBS2 (formerly)|facial palsy, congenital, unilateral or bilateral|hereditary congenital facial paresis gard_rare|ordo_morphological_anomaly MONDO:0023070 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023070 MONDO:0023071 enterovirus antenatal infection biolink:Disease mondo GARD:0002130 http://purl.obolibrary.org/obo/MONDO_0023071 gard_rare MONDO:0023072 obsolete envenomization by Bothrops lanceolatus biolink:Disease mondo Orphanet:1939|GARD:0002131 ORPHA:1939 http://purl.obolibrary.org/obo/MONDO_0023072 Envenomization by the Martinique lancehead viper gard_rare MONDO:0023073 eosinophilic cryptitis biolink:Disease mondo GARD:0006347|GARD:0006346|UMLS:C0742965|SCTID:445918001|ICD9:595.89 Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications. SNOMEDCT:445918001|UMLS:C0742965 http://purl.obolibrary.org/obo/MONDO_0023073 eosinophilic cystitis gard_rare MONDO:0023076 eosinophilic pustular folliculitis biolink:Disease mondo UMLS:C0406305|MESH:C535953|GARD:0008534|ICD9:704.8|SCTID:95333004 Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition. MESH:C535953|SNOMEDCT:95333004|UMLS:C0406305 http://purl.obolibrary.org/obo/MONDO_0023076 EPF|eosinophilic folliculitis, pustular|Ofuji disease|eosinophilic folliculitis|Ofuji's disease gard_rare CL:0000163 endocrine cell biolink:Cell mondo FMA:83809 A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. http://purl.obolibrary.org/obo/CL_0000163 endocrinocyte MONDO:0011099 human HOXA1 syndromes biolink:Disease mondo SCTID:720518006|DOID:0050682|Orphanet:69739|OMIM:601536|UMLS:C1832215|GARD:0008333 Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. ORPHA:69739|DOID:0050682|MESH:C535397|SNOMEDCT:720518006|http://identifiers.org/omim/601536|UMLS:C1832215 http://purl.obolibrary.org/obo/MONDO_0011099 Human HOXA1 syndromes|Athabaskan brainstem dysgenesis syndrome; ABDS|Athabaskan brainstem dysgenesis|ABDS|Athabaskan brainstem dysgenesis syndrome|Navajo brainstem syndrome|Athabascan brainstem dysgenesis syndrome|Bosley Salih Alorainy syndrome|BSAS|ABSD|Bosley-Salih-Alorainy syndrome ordo_disease CL:0000164 enteroendocrine cell biolink:Cell mondo FMA:62930|BTO:0003865 An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. http://purl.obolibrary.org/obo/CL_0000164 CL:0000165 neuroendocrine cell biolink:Cell mondo BTO:0002691|FMA:83810 An endocrine cell that has the specialized function to produce and secrete hormones in response to neuronal signals. http://purl.obolibrary.org/obo/CL_0000165 neurosecretory cell CL:0000166 chromaffin cell biolink:Cell mondo FMA:69263|BTO:0000259 A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system. http://purl.obolibrary.org/obo/CL_0000166 phaeochromocyte CL:0000167 peptide hormone secreting cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000167 UBERON:0022292 splenic arteriole biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0022292 CL:0000168 insulin secreting cell biolink:Cell mondo BTO:0000783 http://purl.obolibrary.org/obo/CL_0000168 CL:0000169 type B pancreatic cell biolink:Cell mondo EV:0200009|ncithesaurus:Beta_Cell|FMA:70586|BTO:0000783|MA:0002419 A cell that secretes insulin and is located towards the center of the islets of Langerhans. http://purl.obolibrary.org/obo/CL_0000169 pancreatic beta cell|pancreatic B-cell|beta cell islet|insulin-secreting cell|pancreatic B cell|beta cell of pancreatic islet|type B enteroendocrine cell|pancreatic islet core|B-cell of pancreatic islet|beta cell UBERON:0022293 reproductive gland secretion biolink:AnatomicalEntity mondo A portion of organism substance that is secreted by a reproductive gland. http://purl.obolibrary.org/obo/UBERON_0022293 reproductive system fluid/secretion|genital fluid|genital secretion|reproductive system fluid|reproductive system secretion MONDO:0011092 ribbing disease biolink:Disease mondo GARD:0008494|UMLS:C1832273|MESH:C537613|OMIM:601477 Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described. http://identifiers.org/omim/601477|UMLS:C1832273|MESH:C537613 http://purl.obolibrary.org/obo/MONDO_0011092 multiple diaphyseal sclerosis|hereditary multiple diaphyseal sclerosis|diaphyseal sclerosis, multiple|ribbing disease gard_rare UBERON:0022296 inferior palpebral branch of infra-orbital nerve biolink:AnatomicalEntity mondo A nerve that innervates a lower eyelid and is a branch of the infra-orbital branch of the maxillary nerve. http://purl.obolibrary.org/obo/UBERON_0022296 rami palpebrales inferiores nervi infraorbitalis MONDO:0011091 Charcot-Marie-Tooth disease type 2D biolink:Disease mondo NCIT:C122659|UMLS:C1832274|MESH:C537993|GARD:0001251|ICD10:G60.0|DOID:0110164|OMIM:601472|SCTID:717011006|UMLS:C4274109|Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. UMLS:C4274109|SNOMEDCT:717011006|http://identifiers.org/omim/601472|UMLS:C1832274|NCIT:C122659|ORPHA:99938|MESH:C537993|DOID:0110164 http://purl.obolibrary.org/obo/MONDO_0011091 Charcot-Marie-Tooth disease, axonal, type 2D; CMT2D|Charcot-Marie-Tooth disease, neuronal, type 2D|CMT2D|autosomal dominant Charcot-Marie-Tooth disease type 2D|GARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease neuronal type 2D|Charcot Marie Tooth disease type 2D|CMT 2D|Charcot-Marie-Tooth neuropathy, type 2D|Charcot-Marie-Tooth disease, axonal, type 2D|Charcot-Marie-Tooth neuropathy type 2D|Charcot-Marie-Tooth disease type 2 caused by mutation in GARS gard_rare|ordo_disease UBERON:0022298 lower eyelid nerve biolink:AnatomicalEntity mondo A nerve that innervates a lower eyelid. http://purl.obolibrary.org/obo/UBERON_0022298 MONDO:0011094 dilated cardiomyopathy 1C biolink:Disease mondo DOID:0110423|OMIM:601493|ICD10:I42.0|MESH:C563307 A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2. DOID:0110423|MESH:C563307|http://identifiers.org/omim/601493 http://purl.obolibrary.org/obo/MONDO_0011094 CMD1C|cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction; CMD1C|left ventricular noncompaction 3|dilated cardiomyopathy type 1C|cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction|CMDC1|cardiomyopathy, familial hypertrophic, 24|dilated cardiomyopathy 1C with or without left ventricular noncompaction MONDO:0011093 mucopolysaccharidosis type 9 biolink:Disease mondo DOID:0050809|OMIM:601492|ICD9:277.6|MESH:C563209|UMLS:C1291490|SCTID:124473006|NCIT:C129073|ICD10:E76.2|Orphanet:67041 An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency. MESH:C563209|SNOMEDCT:124473006|UMLS:C1291490|http://identifiers.org/omim/601492|NCIT:C129073|ORPHA:67041|DOID:0050809 http://purl.obolibrary.org/obo/MONDO_0011093 mucopolysaccharidosis, type 9|mucopolysaccharidosis, type IX; MPS9|MPS 9|mucopolysaccharidosis type 9|hyaluronidase deficiency|mucopolysaccharidosis IX|mucopolysaccharidosis, type IX|MPS9|mucopolysaccharidosis type IX|MPSIX ordo_disease UBERON:0022297 palpebral branch of infra-orbital nerve biolink:AnatomicalEntity mondo A nerve that innervates an eyelid and is a branch of the infra-orbital branch of the maxillary nerve. http://purl.obolibrary.org/obo/UBERON_0022297 palpebral branch of maxillary nerve MONDO:0011096 autosomal agammaglobulinemia biolink:Disease mondo ICD10:D80.0|UMLS:C1832241|GARD:0009640|MESH:C538056|Orphanet:33110 Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. ORPHA:33110|MESH:C538056|UMLS:C1832241 http://purl.obolibrary.org/obo/MONDO_0011096 agammaglobulinemia, autosomal recessive, due to IGHM defect|AGM|agammaglobulinemia, non-Bruton type ordo_clinical_subtype MONDO:0011095 dilated cardiomyopathy 1D biolink:Disease mondo OMIM:601494|DOID:0110426|ICD10:I42.0|UMLS:C1832243|MESH:C563306 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. DOID:0110426|MESH:C563306|http://identifiers.org/omim/601494|UMLS:C1832243 http://purl.obolibrary.org/obo/MONDO_0011095 familial isolated dilated cardiomyopathy caused by mutation in TNNT2|TNNT2 familial isolated dilated cardiomyopathy|CMD1D|cardiomyopathy, dilated, 1D|left ventricular noncompaction 6|dilated cardiomyopathy type 1D|cardiomyopathy, dilated, 1D; CMD1D|cardiomyopathy, dilated, type 1D CL:0000160 goblet cell biolink:Cell mondo http://en.wikipedia.org/wiki/Goblet_cell|BTO:0001540|FMA:13148 A cell of the epithelial lining that produce and secrete mucins. http://purl.obolibrary.org/obo/CL_0000160 chalice cell UBERON:0022299 upper eyelid nerve biolink:AnatomicalEntity mondo A nerve that innervates an upper eyelid. http://purl.obolibrary.org/obo/UBERON_0022299 MONDO:0011098 prostate cancer, hereditary, 1 biolink:Disease mondo OMIM:601518 Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene. http://identifiers.org/omim/601518 http://purl.obolibrary.org/obo/MONDO_0011098 prostate cancer, hereditary, 1; HPC1|HPC1|prostate cancer, hereditary, 1|RNASEL familial prostate cancer|familial prostate cancer caused by mutation in RNASEL|Prca1|prostate cancer, hereditary, type 1 MONDO:0011097 Axenfeld-Rieger syndrome type 2 biolink:Disease mondo UMLS:C1832229|OMIM:601499|MESH:C535680|DOID:0110121|ICD10:Q13.8 An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. DOID:0110121|MESH:C535680|http://identifiers.org/omim/601499|UMLS:C1832229 http://purl.obolibrary.org/obo/MONDO_0011097 Axenfeld-Rieger syndrome, type 2|Rieger syndrome type 2|Axenfeld-Rieger syndrome, type 2; RIEG2|RIEG2|Rieger syndrome, type 2 MONDO:0023067 endemic Kaposi sarcoma biolink:Disease mondo GARD:0010431 http://purl.obolibrary.org/obo/MONDO_0023067 African/endemic Kaposi sarcoma|African Kaposi sarcoma gard_rare MONDO:0023068 engelhard yatziv syndrome biolink:Disease mondo GARD:0002124 http://purl.obolibrary.org/obo/MONDO_0023068 gard_rare MONDO:0023069 enlarged vestibular aqueduct syndrome biolink:Disease mondo DOID:0050332|GARD:0008651 DOID:0050332 http://purl.obolibrary.org/obo/MONDO_0023069 enlarged vestibular aqueduct|large vestibular aqueduct syndrome gard_rare MONDO:0023061 enamel hypoplasia cataract hydrocephaly biolink:Disease mondo GARD:0002106 http://purl.obolibrary.org/obo/MONDO_0023061 gard_rare MONDO:0023062 encephalocele anencephaly biolink:Disease mondo GARD:0002109 http://purl.obolibrary.org/obo/MONDO_0023062 gard_rare MONDO:0023065 obsolete encephalopathy recurrent of childhood biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023065 MONDO:0023066 enchondromatosis dwarfism deafness biolink:Disease mondo GARD:0000294 http://purl.obolibrary.org/obo/MONDO_0023066 Wallis cremin Beighton syndrome gard_rare CL:0000174 steroid hormone secreting cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000174 MONDO:0011089 patent ductus venosus biolink:Disease mondo ICD9:747.49|OMIM:601466|GARD:0010483|SCTID:253330006|MESH:C562830 SNOMEDCT:253330006|MESH:C562830|http://identifiers.org/omim/601466 http://purl.obolibrary.org/obo/MONDO_0011089 patent ductus venosus|portosystemic Venous shunt, congenital|patent ductus venosus; PDV|PDV|PSVS gard_rare MONDO:0011088 congenital myasthenic syndrome 1A biolink:Disease mondo DOID:0110663|OMIM:601462 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene. DOID:0110663|http://identifiers.org/omim/601462 http://purl.obolibrary.org/obo/MONDO_0011088 CMS2A|CMS1A|myasthenic syndrome, congenital, type IIa, formerly|myasthenic syndrome, congenital, type IIa|congenital myasthenic syndrome type IIa|congenital myasthenic syndrome 1A, slow-channel|myasthenic syndrome, congenital, 1A, slow-channel; CMS1A|CMS IIa|CHRNA1 congenital myasthenic syndrome|CMS1A|myasthenic syndrome, congenital, 1A, slow-channel|Cms IIa, formerly|congenital myasthenic syndrome caused by mutation in CHRNA1|Cms IIa|congenital myasthenic syndrome type 1A MONDO:0011081 dislocation of the hip-dysmorphism syndrome biolink:Disease mondo Orphanet:2412|UMLS:C1832353|SCTID:763755009|MESH:C563315|GARD:0001428|ICD10:Q87.2|OMIM:601450 Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995. SNOMEDCT:763755009|MESH:C563315|http://identifiers.org/omim/601450|ORPHA:2412|UMLS:C1832353 http://purl.obolibrary.org/obo/MONDO_0011081 Collins-Pope syndrome|dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism|Collins Pope syndrome|hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism|dislocation of the hip dysmorphism ordo_malformation_syndrome|gard_rare MONDO:0011080 progressive deafness with stapes fixation biolink:Disease mondo ICD10:H74.3|OMIM:601449|SCTID:715529009|MESH:C563316|Orphanet:3235|UMLS:C1832354|GARD:0005170 Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). MESH:C563316|ORPHA:3235|http://identifiers.org/omim/601449|SNOMEDCT:715529009|UMLS:C1832354|UMLS:C1844678 http://purl.obolibrary.org/obo/MONDO_0011080 Thies Reis syndrome|Stapedo-vestibular ankylosis|deafness, progressive, with stapes fixation|Thies-Reis syndrome gard_rare|ordo_malformation_syndrome MONDO:0011083 trichodental syndrome biolink:Disease mondo MESH:C536551|GARD:0000265|UMLS:C0406724|SCTID:277810000|Orphanet:3351|OMIM:601453 Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant. MESH:C536551|SNOMEDCT:277810000|ORPHA:3351|http://identifiers.org/omim/601453|UMLS:C0406724 http://purl.obolibrary.org/obo/MONDO_0011083 TRICHODENTAL dysplasia|Tricho-dental dysplasia|Tricho-dental syndrome|kersey syndrome gard_rare|ordo_malformation_syndrome MONDO:0011082 oculoauriculofrontonasal syndrome biolink:Disease mondo MESH:C537865|Orphanet:398156|UMLS:C1832352|ICD10:Q87.0|GARD:0004031|OMIM:601452 ORPHA:398156|http://identifiers.org/omim/601452|UMLS:C1832352|MESH:C537865 http://purl.obolibrary.org/obo/MONDO_0011082 OCULOAURICULOFRONTONASAL syndrome; OAFNS|oculoauriculofrontonasal syndrome|OAFNS|oculoauriculofrontonasal dysplasia ordo_malformation_syndrome|gard_rare MONDO:0011085 Charcot-Marie-Tooth disease type 4D biolink:Disease mondo GARD:0003973|SCTID:715798007|OMIM:601455|MESH:C535716|DOID:0110186|UMLS:C1832334|ICD10:G60.0|Orphanet:99950 Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. ORPHA:99950|DOID:0110186|MESH:C535716|http://identifiers.org/omim/601455|UMLS:C1832334|SNOMEDCT:715798007 http://purl.obolibrary.org/obo/MONDO_0011085 hereditary motor ABD sensory neuropathy Lom type|NDRG1 Charcot-Marie-Tooth disease type 4|neuropathy, hereditary motor and sensory, Lom type|Charcot-Marie-Tooth neuropathy type 4D|Charcot-Marie-Tooth neuropathy, type 4D|hereditary motor and sensory neuropathy, Lom type|HMSN4D|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D|Charcot-Marie-Tooth disease, type 4D|CMT4D|HMSN Lom type|Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1|HMSN, Lom type|HMSN4D|HMSN-Lom|NMSL|Charcot-Marie-Tooth disease, type 4D; CMT4D|HMSNL ordo_disease|gard_rare MONDO:0011084 PSORS3 biolink:Disease mondo OMIM:601454 http://identifiers.org/omim/601454 http://purl.obolibrary.org/obo/MONDO_0011084 psoriasis 3, susceptibility to|psoriasis 3, susceptibility to; PSORS3|PSORS3 MONDO:0011087 inflammatory bowel disease 2 biolink:Disease mondo UMLS:C1832321|MESH:C563310|DOID:0110900|OMIM:601458 An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1. MESH:C563310|DOID:0110900|http://identifiers.org/omim/601458|UMLS:C1832321 http://purl.obolibrary.org/obo/MONDO_0011087 IBD2|inflammatory bowel disease 2|inflammatory bowel disease 2; IBD2|inflammatory bowel disease type 2 CL:0000172 somatostatin secreting cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000172 CL:0000173 pancreatic D cell biolink:Cell mondo FMA:70587|BTO:0000803 A D cell located in the pancreas. Peripherally placed within the islets like type A cells; contains somatostatin. http://purl.obolibrary.org/obo/CL_0000173 delta cell of islet|D-cell of pancreatic islet|delta cell of pancreatic islet|pancreatic D-cell|somatostatin-secreting pancreatic cell|pancreatic delta cell MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive biolink:Disease mondo DOID:0090013|MESH:C563311|Orphanet:331206|OMIM:601457|UMLS:C1832322|ICD10:D81.1|GARD:0010339 Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. ORPHA:331206|DOID:0090013|MESH:C563311|http://identifiers.org/omim/601457|UMLS:C1832322 http://purl.obolibrary.org/obo/MONDO_0011086 severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive|severe combined immunodeficiency due to complete RAG1-2 deficiency|severe combined immunodeficiency due to complete RAG1/2 deficiency|SCID, AR, T-cell negative, B-cell negative, NK cell-positive|SCID, T cell-negative, B cell-negative, NK cell-positive|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|SCID due to complete RAG1-2 deficiency|SCID due to complete RAG1/2 deficiency ordo_disease MONDO:0023059 Elliott ludman Teebi syndrome biolink:Disease mondo MESH:C536204|GARD:0000189|UMLS:C2931128 MESH:C536204|UMLS:C2931128 http://purl.obolibrary.org/obo/MONDO_0023059 multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs gard_rare MONDO:0023050 ectrodactyly cardiopathy dysmorphism biolink:Disease mondo UMLS:C2931127|MESH:C536187|GARD:0002063 MESH:C536187|UMLS:C2931127 http://purl.obolibrary.org/obo/MONDO_0023050 ectrodactyly of lower limbs, congenital heart defect and characteristic facies|Van Den Ende Brunner syndrome gard_rare MONDO:0023052 ectrodactyly polydactyly biolink:Disease mondo GARD:0002068 http://purl.obolibrary.org/obo/MONDO_0023052 gard_rare MONDO:0023054 klumpke's paralysis biolink:Disease mondo UMLS:C0270898|SCTID:83886009|GARD:0003123 Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months. UMLS:C0270898|SNOMEDCT:83886009 http://purl.obolibrary.org/obo/MONDO_0023054 Paralysis, Klumpke|Klumpke's palsy|Dejerine Klumpke Palsy|klumpke-dejerine paralysis|Klumpke's Palsy|Klumpke-DC)jerine paralysis|Klumpke-Dejerine paralysis|Lower brachial plexus palsy|Palsy, Klumpke's|Paralysis of the Lower Brachial Plexus|klumpke-dC)jerine brachial plexus injury|klumpke paralysis|Dejerine-Klumpke palsy|Klumpke-DC)jerine brachial plexus injury|Klumpke paralysis|klumpke's palsy|Klumpkes Palsy|Palsy, Dejerine-Klumpke|klumpke's paralysis|klumpke-dC)jerine paralysis|Lower Brachial Plexus Palsy|Klumpke Paralysis|Klumpke's paralysis|Klumpke Palsy|Dejerine-Klumpke Palsy gard_rare MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis biolink:Disease mondo UMLS:C1832362|MESH:C537694|GARD:0003062|OMIM:601427 UMLS:C1832362|MESH:C537694|http://identifiers.org/omim/601427 http://purl.obolibrary.org/obo/MONDO_0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis|Jung Wolff back Stahl syndrome MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate biolink:Disease mondo GARD:0003614|MESH:C537547|OMIM:601420|UMLS:C1832369 UMLS:C1832369|MESH:C537547|http://identifiers.org/omim/601420 http://purl.obolibrary.org/obo/MONDO_0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate|microcephaly, facial clefting, and preaxial polydactyly|microcephaly, corpus callosum dysgenesis and cleft lip-palate|corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation gard_rare ECTO:9000107 solvent exposure biolink:OntologyClass mondo An exposure to solvent. http://purl.obolibrary.org/obo/ECTO_9000107 exposure to solvent MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type biolink:Disease mondo SCTID:715505002|GARD:0004703|ICD10:Q78.8|MESH:C537609|OMIM:601438|Orphanet:2831|UMLS:C1832359 Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia. UMLS:C1832359|ORPHA:2831|MESH:C537609|SNOMEDCT:715505002|http://identifiers.org/omim/601438 http://purl.obolibrary.org/obo/MONDO_0011079 rhizomelic dysplasia, Patterson-Lowry type|Patterson-Lowry rhizomelic dysplasia|Patterson Lowry syndrome|rhizomelic dysplasia Patterson Lowry type gard_rare|ordo_malformation_syndrome CL:0000145 professional antigen presenting cell biolink:Cell mondo A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. http://purl.obolibrary.org/obo/CL_0000145 APC CL:0000146 simple columnar epithelial cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000146 CL:0000147 pigment cell biolink:Cell mondo VHOG:0001678 A pigment cell is a cell that contains pigment granules. http://purl.obolibrary.org/obo/CL_0000147 chromatophore|chromatocyte CL:0000148 melanocyte biolink:Cell mondo BTO:0000847|FMA:70545|VHOG:0001679|CALOHA:TS-0613 A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance. http://purl.obolibrary.org/obo/CL_0000148 melanophore MONDO:0035009 isolated mesenteric vein thrombosis biolink:Disease mondo Orphanet:583861 ORPHA:583861 http://purl.obolibrary.org/obo/MONDO_0035009 ordo_disease MONDO:0011070 van Maldergem syndrome 1 biolink:Disease mondo OMIM:601390 Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene. http://identifiers.org/omim/601390 http://purl.obolibrary.org/obo/MONDO_0011070 DCHS1 van Maldergem syndrome|Van Maldergem syndrome type 1|VAN Maldergem syndrome 1; VMLDS1|van Maldergem syndrome 1|VMLDS1|van Maldergem syndrome caused by mutation in DCHS1|Cerebrofacioarticular syndrome MONDO:0035008 isolated splenic vein thrombosis biolink:Disease mondo Orphanet:583856 ORPHA:583856 http://purl.obolibrary.org/obo/MONDO_0035008 ordo_disease MONDO:0011072 NIDDM2 biolink:Disease mondo UMLS:C1832387|OMIM:601407|MESH:C563323 MESH:C563323|http://identifiers.org/omim/601407|UMLS:C1832387 http://purl.obolibrary.org/obo/MONDO_0011072 noninsulin-dependent diabetes mellitus 2|diabetes mellitus, noninsulin-dependent, 2|NIDDM2|diabetes mellitus, noninsulin-dependent, 2; NIDDM2 MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome biolink:Disease mondo SCTID:725034002|GARD:0010352|ICD10:D69.4|UMLS:C1832388|MESH:C563324|Orphanet:71290 The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes. SNOMEDCT:725034002|ORPHA:71290|MESH:C563324|UMLS:C1832388 http://purl.obolibrary.org/obo/MONDO_0011071 familial thrombocytopenia with propensity to acute myelogenous leukemia|platelet disorder, familial, with associated myeloid malignancy; FPDMM|familial platelet syndrome with predisposition to acute myelogenous leukemia|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|FPDMM|familial platelet disorder with associated myeloid malignancy|platelet disorder, aspirin-like|asprin-like platelet disorder|FPS/AML syndrome|FPD/AML syndrome|platelet disorder, familial, with associated myeloid malignancy ordo_disease MONDO:0011074 autosomal dominant nonsyndromic deafness 7 biolink:Disease mondo MESH:C563321|ICD10:H90.3|OMIM:601412|UMLS:C1832379|DOID:0110591 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23. DOID:0110591|MESH:C563321|http://identifiers.org/omim/601412|UMLS:C1832379 http://purl.obolibrary.org/obo/MONDO_0011074 DFNA7|deafness, autosomal dominant 7|autosomal dominant nonsyndromic deafness type 7|autosomal dominant deafness 7|deafness, autosomal dominant 7; DFNA7 MONDO:0011073 diabetes mellitus, transient neonatal, 1 biolink:Disease mondo MESH:C563322|SCTID:609579009|OMIM:601410 MESH:C563322|http://identifiers.org/omim/601410|SNOMEDCT:609579009 http://purl.obolibrary.org/obo/MONDO_0011073 diabetes mellitus, transient neonatal, 1|Dmtn|Tndm|diabetes mellitus, transient neonatal, type 1|Tndm1 MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form biolink:Disease mondo Orphanet:583595 ORPHA:583595 http://purl.obolibrary.org/obo/MONDO_0035004 ordo_disease MONDO:0011076 myofibrillar myopathy 1 biolink:Disease mondo ICD10:G71.8|Orphanet:98909|DOID:0080092|OMIM:601419|UMLS:C1832370 Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. UMLS:C1832370|DOID:0080092|ORPHA:98909|http://identifiers.org/omim/601419 http://purl.obolibrary.org/obo/MONDO_0011076 cardiomyopathy, dilated, with conduction defect and muscular dystrophy|arrhythmogenic right ventricular dysplasia, familial, 7, formerly|IBM1|arrhythmogenic right ventricular cardiomyopathy 7|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D|CMD1F and LGMD1D, formerly|myopathy, myofibrillar, type 1|arrhythmogenic right ventricular dysplasia, familial, 7|myopathy, myofibrillar, 1|desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy|myofibrillar myopathy type 1|desmin-related myofibrillar myopathy|myofibrillar myopathy (disease) caused by mutation in DES|myopathy, myofibrillar, desmin-related|MFM1|desminopathy|desminopathy, primary|myopathy, myofibrillar, 1; MFM1|inclusion body myopathy 1, autosomal dominant, formerly|CMD1F and LGMD1D|DES myofibrillar myopathy (disease)|myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly|arrhythmogenic right ventricular cardiomyopathy 7, formerly|desmin-related myopathy|inclusion body myopathy 1, autosomal dominant ordo_disease MONDO:0011075 retinitis pigmentosa 18 biolink:Disease mondo OMIM:601414|ICD10:H35.5|MESH:C563320|DOID:0110356|GARD:0010392|UMLS:C1832378 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene. DOID:0110356|MESH:C563320|http://identifiers.org/omim/601414|UMLS:C1832378 http://purl.obolibrary.org/obo/MONDO_0011075 retinitis pigmentosa 18; RP18|retinitis pigmentosa type 18|RP18|retinitis pigmentosa caused by mutation in PRPF3|RP 18|PRPF3 retinitis pigmentosa|retinitis pigmentosa 18 gard_rare MONDO:0023045 ectodermal dysplasia arthrogryposis diabetes mellitus biolink:Disease mondo GARD:0002042 http://purl.obolibrary.org/obo/MONDO_0023045 gard_rare MONDO:0023046 ectodermal dysplasia blindness biolink:Disease mondo GARD:0002045 http://purl.obolibrary.org/obo/MONDO_0023046 gard_rare MONDO:0023048 ectodermal dysplasia neurosensory deafness biolink:Disease mondo GARD:0002053 http://purl.obolibrary.org/obo/MONDO_0023048 gard_rare GO:1990580 regulation of cytoplasmic translational termination biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cytoplasmic translational termination. http://purl.obolibrary.org/obo/GO_1990580 MONDO:0023040 ectodermal dysplasia Bartalos type biolink:Disease mondo GARD:0002043 http://purl.obolibrary.org/obo/MONDO_0023040 gard_rare MONDO:0023041 ectodermal dysplasia Berlin type biolink:Disease mondo GARD:0002044 http://purl.obolibrary.org/obo/MONDO_0023041 gard_rare MONDO:0023042 ectodermal dysplasia margarita type biolink:Disease mondo GARD:0002050 http://purl.obolibrary.org/obo/MONDO_0023042 gard_rare MONDO:0023043 ectodermal dysplasia alopecia preaxial polydactyly biolink:Disease mondo MESH:C538016|UMLS:C2931691|GARD:0002040 UMLS:C2931691|MESH:C538016 http://purl.obolibrary.org/obo/MONDO_0023043 absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance gard_rare MONDO:0011067 autosomal recessive nonsyndromic deafness 12 biolink:Disease mondo ICD10:H90.3|UMLS:C1832394|OMIM:601386|DOID:0110467|MESH:C563327 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. UMLS:C1832394|DOID:0110467|MESH:C563327|http://identifiers.org/omim/601386 http://purl.obolibrary.org/obo/MONDO_0011067 autosomal recessive deafness 12|autosomal recessive nonsyndromic deafness type 12|deafness, autosomal recessive type 12|deafness, autosomal recessive 12; DFNB12|DFNB12|deafness, autosomal recessive 12 GO:2001020 regulation of response to DNA damage stimulus biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of response to DNA damage stimulus. http://purl.obolibrary.org/obo/GO_2001020 regulation of cellular response to DNA damage stimulus|regulation of cellular DNA damage response|regulation of DNA damage response|regulation of response to genotoxic stress GO:2001021 negative regulation of response to DNA damage stimulus biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of response to DNA damage stimulus. http://purl.obolibrary.org/obo/GO_2001021 negative regulation of DNA damage response|negative regulation of cellular response to DNA damage stimulus|negative regulation of cellular DNA damage response|negative regulation of response to genotoxic stress MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 biolink:Disease mondo Orphanet:99955|SCTID:715803003|DOID:0110191|MESH:C535420|OMIM:601382|UMLS:C1832399|GARD:0001253|ICD10:G60.0 Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). UMLS:C1832399|ORPHA:99955|SNOMEDCT:715803003|DOID:0110191|MESH:C535420|http://identifiers.org/omim/601382 http://purl.obolibrary.org/obo/MONDO_0011066 Charcot-Marie-Tooth disease, type 4B1; CMT4B1|Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1|CMT 4B|Charcot-Marie-Tooth disease, type 4B1|Charcot-Marie-Tooth neuropathy, type 4B1|MTMR2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth neuropathy type 4B1|CMT4B1|CMT 4B1|Charcot-Marie-Tooth disease, type 4B|Charcot Marie Tooth disease type 4B1|Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2 gard_rare|ordo_disease CL:0000153 glycosaminoglycan secreting cell biolink:Cell mondo A cell that secretes glycosaminoglycans. http://purl.obolibrary.org/obo/CL_0000153 hyaluronic acid secreting cell|GAG secreting cell GO:2001022 positive regulation of response to DNA damage stimulus biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus. http://purl.obolibrary.org/obo/GO_2001022 positive regulation of response to genotoxic stress|positive regulation of cellular response to DNA damage stimulus|positive regulation of DNA damage response|positive regulation of cellular DNA damage response MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction biolink:Disease mondo GARD:0001227|MESH:C538072|OMIM:601389|UMLS:C1832391 http://identifiers.org/omim/601389|MESH:C538072|UMLS:C1832391 http://purl.obolibrary.org/obo/MONDO_0011069 cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction|cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction|Frydman Cohen Ashkenazi syndrome gard_rare CL:0000154 protein secreting cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000154 MONDO:0011068 type 1 diabetes mellitus 12 biolink:Disease mondo MESH:C563326|UMLS:C1832392|OMIM:601388|DOID:0110751|ICD10:E10 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene. http://identifiers.org/omim/601388|UMLS:C1832392|MESH:C563326|DOID:0110751 http://purl.obolibrary.org/obo/MONDO_0011068 IDDM12|diabetes mellitus, insulin-dependent, 12; IDDM12|diabetes mellitus, insulin-dependent, 12|type 1 diabetes mellitus caused by mutation in CTLA4|insulin-dependent diabetes mellitus 12|diabetes mellitus, insulin-dependent, type 12|CTLA4 type 1 diabetes mellitus GO:2001023 regulation of response to drug biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of response to drug. http://purl.obolibrary.org/obo/GO_2001023 regulation of drug susceptibility/resistance|regulation of drug resistance GO:2001024 negative regulation of response to drug biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of response to drug. http://purl.obolibrary.org/obo/GO_2001024 negative regulation of drug resistance|negative regulation of drug susceptibility/resistance GO:2001025 positive regulation of response to drug biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of response to drug. http://purl.obolibrary.org/obo/GO_2001025 positive regulation of drug resistance|positive regulation of drug susceptibility/resistance CL:0000157 surfactant secreting cell biolink:Cell mondo A cell that specializes in secretion of surfactant in the alveoli of the lung. http://purl.obolibrary.org/obo/CL_0000157 CL:0000159 seromucus secreting cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000159 MONDO:0011061 chorea, remitting, with nystagmus and cataract biolink:Disease mondo GARD:0009606|UMLS:C1832422|MESH:C535355|OMIM:601372 UMLS:C1832422|MESH:C535355|http://identifiers.org/omim/601372 http://purl.obolibrary.org/obo/MONDO_0011061 chorea, remitting with nystagmus and cataracts|familial remitting chorea, nystagmus and cataracts|chorea, remitting, with nystagmus and cataract MONDO:0011060 early-onset non-syndromic cataract biolink:Disease mondo UMLS:C1832423|Orphanet:91492|OMIM:601371|ICD10:Q12.0 Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected. http://identifiers.org/omim/601371|ORPHA:91492|UMLS:C1832423 http://purl.obolibrary.org/obo/MONDO_0011060 nuclear sclerosis of the lens|cataract, age-related nuclear ordo_disease MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type biolink:Disease mondo OMIM:601375|Orphanet:1808|GARD:0002682|UMLS:C1832411|ICD10:Q82.8|MESH:C536180 Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia. UMLS:C1832411|MESH:C536180|ORPHA:1808|http://identifiers.org/omim/601375 http://purl.obolibrary.org/obo/MONDO_0011063 Christianson-Fourie syndrome|ectodermal dysplasia, hidrotic, Christianson-Fourie type ordo_malformation_syndrome|gard_rare MONDO:0011062 aprosencephaly cerebellar dysgenesis biolink:Disease mondo OMIM:601374|Orphanet:1126|MESH:C563331|ICD10:Q04.3|UMLS:C1832412 ORPHA:1126|UMLS:C1832412|MESH:C563331|http://identifiers.org/omim/601374 http://purl.obolibrary.org/obo/MONDO_0011062 aprosencephaly and cerebellar dysgenesis ordo_malformation_syndrome MONDO:0011065 Hunter-McAlpine craniosynostosis biolink:Disease mondo OMIM:601379|Orphanet:97340|SCTID:721227001|UMLS:C1832408|GARD:0002754|ICD10:Q87.0|MESH:C536072 Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). SNOMEDCT:721227001|UMLS:C1832408|MESH:C536072|ORPHA:97340|http://identifiers.org/omim/601379 http://purl.obolibrary.org/obo/MONDO_0011065 Hunter-McAlpine craniosynostosis syndrome|craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature|Hunter-McAlpine syndrome ordo_malformation_syndrome CL:0000150 glandular epithelial cell biolink:Cell mondo CALOHA:TS-2085|FMA:86494 A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. http://purl.obolibrary.org/obo/CL_0000150 CL:0000151 secretory cell biolink:Cell mondo BTO:0003659|FMA:86916 A cell that specializes in controlled release of one or more substances. http://purl.obolibrary.org/obo/CL_0000151 MONDO:0011064 lethal chondrodysplasia, Seller type biolink:Disease mondo OMIM:601376|GARD:0003226|MESH:C563330|ICD10:Q77.8|UMLS:C1832410|Orphanet:1421 UMLS:C1832410|ORPHA:1421|MESH:C563330|http://identifiers.org/omim/601376 http://purl.obolibrary.org/obo/MONDO_0011064 lethal chondrodysplasia seller type|chondrodysplasia, lethal, with long bone angulation and mixed bone density gard_rare|ordo_malformation_syndrome MONDO:0001521 intermittent explosive disorder biolink:Disease mondo ICD10:F63.81|DOID:12401|SCTID:231527003|NCIT:C94332|ICD9:312.34|ICD10:F60.3|COHD:440989|ICD9:301.3 A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use. DOID:12401|SNOMEDCT:231527003|NCIT:C94332 http://purl.obolibrary.org/obo/MONDO_0001521 explosive personality disorder MONDO:0001520 kleptomania biolink:Disease mondo ICD10:F63.2|COHD:434632|ICD9:312.32|DOID:12400|NCIT:C94333|SCTID:69361009 A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft. SNOMEDCT:69361009|DOID:12400|NCIT:C94333 http://purl.obolibrary.org/obo/MONDO_0001520 kleptomania|pathological stealing MONDO:0001525 thyrocalcitonin secretion disease biolink:Disease mondo UMLS:C0701822|ICD9:246.0|COHD:140364|DOID:12424|SCTID:190303007 DOID:12424|SNOMEDCT:190303007|UMLS:C0701822 http://purl.obolibrary.org/obo/MONDO_0001525 disorder of thyrocalcitonin secretion MONDO:0001524 globe disease biolink:Disease mondo ICD9:360.29|DOID:1242|ICD10:H44.39 DOID:1242 http://purl.obolibrary.org/obo/MONDO_0001524 MONDO:0001523 luxation of globe biolink:Disease mondo UMLS:C0154806|ICD10:H44.82|DOID:1241|ICD9:360.81|SCTID:20842008 DOID:1241|UMLS:C0154806|SNOMEDCT:20842008 http://purl.obolibrary.org/obo/MONDO_0001523 luxation of eye MONDO:0001522 pyromania biolink:Disease mondo ICD10:F63.1|DOID:12402|NCIT:C94334|ICD9:312.33|SCTID:600009|MESH:D005391 A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting. DOID:12402|MESH:D005391|NCIT:C94334|SNOMEDCT:600009 http://purl.obolibrary.org/obo/MONDO_0001522 pathological firesetting|firesetting behavior MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 biolink:Disease mondo OMIM:613960|UMLS:C3151409|DOID:0070194 http://identifiers.org/omim/613960|UMLS:C3151409|DOID:0070194 http://purl.obolibrary.org/obo/MONDO_0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III; CDG3|CDG3|granulomatous disease, chronic, due to Ncf4 deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III|CGD, autosomal recessive cytochrome B-positive, type 3 UBERON:0010384 lumen of laryngopharynx biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a hypopharynx. http://purl.obolibrary.org/obo/UBERON_0010384 laryngopharynx lumen HP:0010566 Hamartoma biolink:PhenotypicFeature mondo SNOMEDCT_US:51398009|MSH:D006222|UMLS:C0018552|SNOMEDCT_US:400006008 A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. http://purl.obolibrary.org/obo/HP_0010566 MONDO:0013508 MYP19 biolink:Disease mondo UMLS:C3151410|OMIM:613969 http://identifiers.org/omim/613969|UMLS:C3151410 http://purl.obolibrary.org/obo/MONDO_0013508 myopia 19, autosomal dominant|MYP19|myopia 19, autosomal dominant; MYP19 MONDO:0013505 spermatogenic failure 9 biolink:Disease mondo UMLS:C3151407|DOID:0070175|OMIM:613958 Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene. http://identifiers.org/omim/613958|UMLS:C3151407|DOID:0070175 http://purl.obolibrary.org/obo/MONDO_0013505 spermatogenic failure 9|spermatogenic failure type 9|SPGF9|globozoospermia, total|DPY19L2 azoospermia|globozoospermia, complete|azoospermia caused by mutation in DPY19L2|spermatogenic failure 9; SPGF9 MONDO:0013506 schizophrenia 16 biolink:Disease mondo UMLS:C3151408|OMIM:613959|DOID:0070092 A schizophrenia that has material basis in a mutation on chromosome 7q36.3. http://identifiers.org/omim/613959|UMLS:C3151408|DOID:0070092 http://purl.obolibrary.org/obo/MONDO_0013506 schizophrenia 16; SCZD16|SCZD16|chromosome 7Q36.3 Duplication syndrome, 362-Kb|schizophrenia susceptibility locus, chromosome 7Q36.3-related|schizophrenia 16|schizophrenia type 16 UBERON:0010388 proximal segment of rib biolink:AnatomicalEntity mondo The segment of the rib that connects to a vertebra[MP]. a small part of the rib composed of the head, neck, tuberculum and a short proximal part of the body[PMID] http://purl.obolibrary.org/obo/UBERON_0010388 proximal part of rib|vertebral part of rib|proximal rib segment|proximal rib|costal part of rib MONDO:0013509 intellectual disability, autosomal dominant 6 biolink:Disease mondo UMLS:C3151411|OMIM:613970|DOID:0070036 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene. http://identifiers.org/omim/613970|UMLS:C3151411|DOID:0070036 http://purl.obolibrary.org/obo/MONDO_0013509 autosomal dominant mental retardation 6|autosomal dominant intellectual disability 6|mental retardation, autosomal dominant 6, with or without seizures|intellectual disability, autosomal dominant 6, with or without seizures|mental retardation, autosomal dominant 6|mental retardation, autosomal dominant 6; MRD6|mental retardation, autosomal dominant type 6|intellectual disability, autosomal dominant 6; MRD6|intellectual disability, autosomal dominant type 6|intellectual disability, autosomal dominant 6|intellectual disability, autosomal dominant 6, with or without seizures; MRD6|mental retardation, autosomal dominant 6, with or without seizures; MRD6|MRD6|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B|autosomal dominant non-syndromic intellectual disability 6|GRIN2B autosomal dominant non-syndromic intellectual disability MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 biolink:Disease mondo OMIM:613972 http://identifiers.org/omim/613972 http://purl.obolibrary.org/obo/MONDO_0013510 melanoma, cutaneous malignant, susceptibility to, 6|susceptibility to cutaneous malignant melanoma 6|CMM6|melanoma, cutaneous malignant, susceptibility to, 6; CMM6|melanoma, cutaneous malignant, susceptibility to, type 6 predisposition MONDO:0013511 cyanosis, transient neonatal biolink:Disease mondo UMLS:C3151421|OMIM:613977 UMLS:C3151421|http://identifiers.org/omim/613977 http://purl.obolibrary.org/obo/MONDO_0013511 TNCY|cyanosis, transient neonatal; TNCY|cyanosis, transient neonatal UBERON:0010379 superior tarsal muscle biolink:AnatomicalEntity mondo The superior tarsal muscle is a smooth muscle adjoining the levator palpebrae superioris muscle that helps to raise the upper eyelid. http://purl.obolibrary.org/obo/UBERON_0010379 the superior tarsal muscle|mueller muscle|Mueller's muscle|Muller's muscle|musculus tarsalis superior|Müller's muscle HGNC:5028 HNMT biolink:OntologyClass mondo http://identifiers.org/hgnc/5028 MONDO:0013514 hypotrichosis 3 biolink:Disease mondo OMIM:613981|DOID:0110700|UMLS:C3151432 Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene. http://identifiers.org/omim/613981|UMLS:C3151432|DOID:0110700 http://purl.obolibrary.org/obo/MONDO_0013514 HYPT3|hypotrichosis caused by mutation in KRT74|hypt3|hypotrichosis type 3|hypotrichosis 3|hypotrichosis simplex of the scalp 2|Htss2|KRT74 hypotrichosis|hypotrichosis 3; HYPT3 MONDO:0013515 osteogenesis imperfecta type 6 biolink:Disease mondo ICD10:Q78.0|UMLS:C3279564|MESH:C536047|GARD:0008700|OMIM:613982|DOID:0110350 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene. MESH:C536047|http://identifiers.org/omim/613982|UMLS:C3279564|DOID:0110350 http://purl.obolibrary.org/obo/MONDO_0013515 OI type 6|OI type VI|osteogenesis imperfecta, type VI|osteogenesis imperfecta caused by mutation in SERPINF1|osteogenesis imperfecta type|osteogenesis imperfecta type VI|osteogenesis imperfecta, type 6|osteogenesis imperfecta, type VI; OI6|SERPINF1 osteogenesis imperfecta|SERPINFI- related osteogenesis imperfecta|OI6 MONDO:0013512 hemoglobin H disease biolink:Disease mondo OMIM:613978|NCIT:C95504|ICD9:282.49|Orphanet:93616|MedDRA:10063435|ICD10:D56.0|SCTID:48553001|UMLS:C3161174|DOID:0110031 Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. MEDDRA:10063435|DOID:0110031|UMLS:C3161174|ORPHA:93616|NCIT:C95504|SNOMEDCT:48553001|http://identifiers.org/omim/613978 http://purl.obolibrary.org/obo/MONDO_0013512 Hemoglobin H disease, Deletional|HbH disease|alpha-thalassemia intermedia|HEMOGLOBIN H disease; HbH|alpha thalassemia, hemoglobin H type|Alpha-thalassemia intermedia|hemoglobin H disease, deletional|Hemoglobin H disease, Nondeletional|HbH|Alpha-thalassemia, Hemoglobin H type|hemoglobin H disease ordo_clinical_subtype MONDO:0013513 atrial fibrillation, familial, 9 biolink:Disease mondo OMIM:613980|UMLS:C3151431 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene. http://identifiers.org/omim/613980|UMLS:C3151431 http://purl.obolibrary.org/obo/MONDO_0013513 familial atrial fibrillation caused by mutation in KCNJ2|ATFB9|atrial fibrillation, familial, 9; ATFB9|atrial fibrillation, familial, type 9|KCNJ2 familial atrial fibrillation|atrial fibrillation, familial, 9 CHEBI:15765 L-dopa biolink:ChemicalSubstance mondo An optically active form of dopa having L-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease http://purl.obolibrary.org/obo/CHEBI_15765 3-Hydroxy-L-tyrosine|Dopar|(-)-dopa|Dihydroxy-L-phenylalanine|L-Dopa|L-dopa|L-DOPA|beta-(3,4-dihydroxyphenyl)alanine|L-beta-(3,4-Dihydroxyphenyl)alanine|3,4-Dihydroxy-L-phenylalanine|beta-(3,4-dihydroxyphenyl)-L-alanine|levodopa|levodopum|(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|3,4-DIHYDROXYPHENYLALANINE|(-)-3-(3,4-dihydroxyphenyl)-L-alanine MONDO:0001518 spastic entropion biolink:Disease mondo DOID:12395|UMLS:C0155190|SCTID:20828000|COHD:375272|ICD9:374.03 UMLS:C0155190|DOID:12395|SNOMEDCT:20828000 http://purl.obolibrary.org/obo/MONDO_0001518 HGNC:7680 NDST1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7680 MONDO:0001517 dysentery biolink:Disease mondo DOID:12384|SCTID:111939009|COHD:198337|UMLS:C0013369|MESH:D004403|ICD9:009.2|EFO:1001869 Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. SNOMEDCT:111939009|UMLS:C0013369|DOID:12384|MESH:D004403 http://purl.obolibrary.org/obo/MONDO_0001517 diarrheal disease, infectious|infectious diarrheal diseases|infectious diarrheal disease|dysenteric diarrhea|infectious diarrhea CHEBI:64709 organic acid biolink:ChemicalSubstance mondo Any organic molecular entity that is acidic and contains carbon in covalent linkage. http://purl.obolibrary.org/obo/CHEBI_64709 organic acids MONDO:0001516 spinal muscular atrophy biolink:Disease mondo ICD9:335.1|NCIT:C85075|EFO:0008525|ICD9:335.10|SCTID:5262007|UMLS:C0026847|COHD:372605|GARD:0007674|MESH:D009134|DOID:12377|ICD9:335.19|ICD10:G12.9 Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. SNOMEDCT:5262007|MESH:D009134|UMLS:C0026847|NCIT:C85075|DOID:12377 http://purl.obolibrary.org/obo/MONDO_0001516 gard_rare CHEBI:64708 one-carbon compound biolink:ChemicalSubstance mondo An organic molecular entity containing a single carbon atom (C1). http://purl.obolibrary.org/obo/CHEBI_64708 one-carbon compounds MONDO:0001515 corneal degeneration biolink:Disease mondo DOID:1237|ICD9:371.4|UMLS:C0155118|ICD9:371.49|SCTID:111521006|ICD10:H18.4|COHD:372635|ICD10:H18.40|ICD9:371.40 SNOMEDCT:111521006|UMLS:C0155118|DOID:1237 http://purl.obolibrary.org/obo/MONDO_0001515 HGNC:7684 NDUFA10 biolink:OntologyClass mondo http://identifiers.org/hgnc/7684 HGNC:7683 NDUFA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7683 MONDO:0001519 entropion (disease) biolink:Disease mondo SCTID:33168009|DOID:12397|COHD:379020|UMLS:C0014390|ICD9:374.00|HP:0000621|MESH:D004774 The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) MESH:D004774|UMLS:C0014390|DOID:12397|SNOMEDCT:33168009 http://purl.obolibrary.org/obo/MONDO_0001519 entropion HGNC:5024 HNF4A biolink:OntologyClass mondo http://identifiers.org/hgnc/5024 HGNC:7685 NDUFA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7685 MONDO:0001532 capillariasis biolink:Disease mondo UMLS:C0006897|ICD9:127.5|DOID:12474|SCTID:52979002|ICD10:B81.1 A infectious disease involving the Capillaria. SNOMEDCT:52979002|DOID:12474|UMLS:C0006897 http://purl.obolibrary.org/obo/MONDO_0001532 Capillaria infection|infections, Capillaria MONDO:0001531 blood coagulation disease biolink:Disease mondo ICD9:286|ICD9:286.9|COHD:432585|ICD9:287.8|SCTID:64779008|ICD10:D68.9|NCIT:C2902|DOID:1247|MESH:D001778 A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. DOID:1247|SNOMEDCT:64779008|NCIT:C2902|MESH:D001778 http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disorder|coagulation disorders, blood|disorder, blood coagulation|coagulation disorder, blood|coagulopathy|coagulation defect|coagulation disorder|postpartum coagulation defect|disorders, blood coagulation|postpartum coagulation defect with delivery HGNC:404 ALDH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/404 MONDO:0001530 secondary hyperparathyroidism of renal origin biolink:Disease mondo UMLS:C0271847|ICD10:N25.81|SCTID:19034001|DOID:12465|ICD9:588.81|COHD:133810 DOID:12465|SNOMEDCT:19034001|UMLS:C0271847 http://purl.obolibrary.org/obo/MONDO_0001530 hyperparathyroidism due to renal insufficiency|secondary hyperparathyroidism (of renal origin)|secondary hyperparathyroidism HGNC:403 ALDH3A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/403 MONDO:0001536 vaginal leiomyoma biolink:Disease mondo UMLS:C1336939|NCIT:C6373|DOID:125 A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C6373|UMLS:C1336939|DOID:125 http://purl.obolibrary.org/obo/MONDO_0001536 leiomyoma of the vagina|vagina leiomyoma|leiomyoma of vagina|vaginal leiomyoma MONDO:0001535 vagus nerve disease biolink:Disease mondo DOID:12491|NCIT:C27591|MESH:D020421|ICD9:352.3|UMLS:C0152179|SCTID:73765005|COHD:432307|ICD10:G52.2 A disease involving the vagus nerve. SNOMEDCT:73765005|DOID:12491|NCIT:C27591|MESH:D020421|UMLS:C0152179 http://purl.obolibrary.org/obo/MONDO_0001535 Vagus nerve disorder|disorder of pneumogastric [10th] nerve|disease of vagus nerve|vagus nerve disease or disorder|disorder of vagal nerve|disorder of vagus nerve|disorder of vagus nerve|vagus nerve disease|disease or disorder of vagus nerve MONDO:0001534 ocular hyperemia biolink:Disease mondo SCTID:359610006|UMLS:C0155169|DOID:1248 SNOMEDCT:359610006|UMLS:C0155169|DOID:1248 http://purl.obolibrary.org/obo/MONDO_0001534 hyperemia eye|hyperemia of conjunctiva MONDO:0001533 pes anserinus tendinitis or bursitis biolink:Disease mondo ICD9:726.61|DOID:12475 DOID:12475 http://purl.obolibrary.org/obo/MONDO_0001533 UBERON:0010371 ecto-epithelium biolink:AnatomicalEntity mondo Epithelium composed of cells that develops from the ectoderm[FMA,modified]. http://purl.obolibrary.org/obo/UBERON_0010371 ectoderm-derived epithelium HP:0010551 Paraplegia/paraparesis biolink:PhenotypicFeature mondo UMLS:C4023792 Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. http://purl.obolibrary.org/obo/HP_0010551 UBERON:0010377 mesenchyme from somatopleure biolink:AnatomicalEntity mondo Mesenchyme that develops_from a somatopleure. http://purl.obolibrary.org/obo/UBERON_0010377 UBERON:0010378 mesenchyme from splanchnopleure biolink:AnatomicalEntity mondo Mesenchyme that develops_from a splanchnopleure. http://purl.obolibrary.org/obo/UBERON_0010378 HP:0010550 Paraplegia biolink:PhenotypicFeature mondo MSH:D010264|UMLS:C0030486|SNOMEDCT_US:60389000 Severe or complete weakness of both lower extremities with sparing of the upper extremities. http://purl.obolibrary.org/obo/HP_0010550 Leg paralysis UBERON:0010375 pancreas dorsal primordium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010375 dorsal pancreas NCBITaxon:134742 Sigmodon alstoni organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_134742 UBERON:0010376 pancreas ventral primordium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010376 ventral pancreas MONDO:0013500 immunodeficiency 51 biolink:Disease mondo OMIM:613953|UMLS:C4310803|UMLS:C3151402 UMLS:C4310803|http://identifiers.org/omim/613953|UMLS:C3151402 http://purl.obolibrary.org/obo/MONDO_0013500 candidiasis, familial, 5, formerly|candidiasis, familial, 5; CANDF5|candidiasis, familial, type 5|CANDF5|candidiasis, familial chronic mucocutaneous, autosomal recessive|IMD51|immunodeficiency 51; IMD51|candidiasis, familial, 5 CHEBI:39745 dihydrogenphosphate biolink:ChemicalSubstance mondo A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated. http://purl.obolibrary.org/obo/CHEBI_39745 dihydrogen(tetraoxidophosphate)(1-)|DIHYDROGENPHOSPHATE ION|dihydrogentetraoxophosphate(1-)|dihydrogenphosphate|dihydrogentetraoxophosphate(V)|H2PO4(-)|[PO2(OH)2](-)|dihydroxidodioxidophosphate(1-) HGNC:7698 NDUFB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7698 HGNC:5037 HNRNPDL biolink:OntologyClass mondo http://identifiers.org/hgnc/5037 UBERON:0010368 pulmonary lobule biolink:AnatomicalEntity mondo The smallest anatomical unit of the lung, measuring 0.50 to 2.00 cm in diameter. Each lobule is composed of 4-8 terminal bronchioles and their distal alveolar ducts and sacs. The lobules are separated by fibrous interlobular septa. http://purl.obolibrary.org/obo/UBERON_0010368 lobulus pulmonis MONDO:0013503 candidiasis, familial, 6 biolink:Disease mondo UMLS:C3151405|OMIM:613956 Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene. http://identifiers.org/omim/613956|UMLS:C3151405 http://purl.obolibrary.org/obo/MONDO_0013503 familial chronic mucocutaneous candidiasis caused by mutation in IL17F|CANDF6|IL17F familial chronic mucocutaneous candidiasis|candidiasis, familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, 6|candidiasis, familial, type 6|candidiasis, familial, 6; CANDF6 MONDO:0013504 spermatogenic failure 8 biolink:Disease mondo UMLS:C3151406|DOID:0070169|OMIM:613957 Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene. http://identifiers.org/omim/613957|UMLS:C3151406|DOID:0070169 http://purl.obolibrary.org/obo/MONDO_0013504 spermatogenic failure type 8|NR5A1 azoospermia|azoospermia caused by mutation in NR5A1|SPGF8|spermatogenic failure 8; SPGF8|spermatogenic failure 8 MONDO:0013501 amyotrophic lateral sclerosis type 14 biolink:Disease mondo UMLS:C3151403|OMIM:613954|DOID:0060205 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene. http://identifiers.org/omim/613954|UMLS:C3151403|DOID:0060205 http://purl.obolibrary.org/obo/MONDO_0013501 amyotrophic lateral sclerosis 14|VCP amyotrophic lateral sclerosis|amyotrophic lateral sclerosis, with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in VCP|ALS14|amyotrophic lateral sclerosis 14 with or without frontotemporal dementia|amyotrophic lateral sclerosis 14 with or without frontotemporal dementia; ALS14 MONDO:0013502 amyloidosis, primary localized cutaneous, 2 biolink:Disease mondo OMIM:613955|UMLS:C3151404 http://identifiers.org/omim/613955|UMLS:C3151404 http://purl.obolibrary.org/obo/MONDO_0013502 PLCA2|amyloidosis, primary localized cutaneous, type 2|amyloidosis, primary localized cutaneous, 2; PLCA2|amyloidosis, primary localized cutaneous, 2 MONDO:0001529 pancytopenia biolink:Disease mondo DOID:12450|SCTID:127034005|UMLS:C0030312|ICD9:284.1|ICD10:D61.81|NCIT:C34889|MESH:D010198|COHD:432881|ICD9:284.89 A finding of low numbers of red and white blood cells and platelets in the peripheral blood. UMLS:C0030312|NCIT:C34889|MESH:D010198|DOID:12450|SNOMEDCT:127034005 http://purl.obolibrary.org/obo/MONDO_0001529 MONDO:0001528 vulva cancer biolink:Disease mondo SCTID:363367000|DOID:1245|MESH:D014846|GARD:0009349|ICD10:C51|NCIT:C7502|ICD9:184.4|ICD10:C51.9 A primary or metastatic malignant neoplasm involving the vulva. MESH:D014846|NCIT:C7502|DOID:1245|SNOMEDCT:363367000 http://purl.obolibrary.org/obo/MONDO_0001528 neoplasm of vulva|malignant vulvar tumor|vulvar neoplasm|Ca vulva|malignant mammalian vulva neoplasm|malignant neoplasm of the vulva|malignant neoplasm of vulva|vulval neoplasm|cancer of mammalian vulva|malignant vulva tumor|vulval cancer|vulvar tumor|malignant tumor of the vulva|malignant tumor of vulva|vulvar cancer|malignant neoplasm of vulva unspecified|malignant neoplasm of vulva, unspecified|malignant vulva neoplasm|malignant neoplasm of mammalian vulva|malignant neoplasm of vulva, NOS|mammalian vulva cancer|malignant vulvar neoplasm HGNC:7690 NDUFA6 biolink:OntologyClass mondo http://identifiers.org/hgnc/7690 HGNC:7693 NDUFA9 biolink:OntologyClass mondo http://identifiers.org/hgnc/7693 MONDO:0001527 conjugate gaze palsy biolink:Disease mondo SCTID:1534008|COHD:377566|DOID:12445|UMLS:C0702143|ICD9:378.81 DOID:12445|UMLS:C0702143|SNOMEDCT:1534008 http://purl.obolibrary.org/obo/MONDO_0001527 palsy of conjugate gaze MONDO:0001526 labia minora cancer biolink:Disease mondo UMLS:C0496815|ICD10:C51.1|DOID:1243|NCIT:C7637|ICD9:184.2|SCTID:363447008 A malignant neoplasm that affects the labia minora. SNOMEDCT:363447008|NCIT:C7637|DOID:1243|UMLS:C0496815 http://purl.obolibrary.org/obo/MONDO_0001526 malignant tumor of the labia minora|malignant neoplasm of labia minora|malignant tumor of labia minora|malignant neoplasm of labium minora|malignant neoplasm of the labia minora|malignant labia minora tumor|labium minora cancer|malignant labium minora neoplasm|cancer of labium minora|malignant neoplasm of labium minus|malignant labia minora neoplasm HGNC:5031 HNRNPA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5031 NCBITaxon:13373 Burkholderia mallei organism taxon mondo GC_ID:11|PMID:12734250|PMID:1283774|PMID:16558776 http://purl.obolibrary.org/obo/NCBITaxon_13373 Pseudomonas mallei|Bacillus mallei|Pfeifferella mallei|Acinetobacter mallei|Malleomyces mallei|Actinobacillus mallei|Loefferella mallei HGNC:5033 HNRNPA2B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5033 MONDO:0001503 primary eye hypotony biolink:Disease mondo UMLS:C0154782|COHD:374346|ICD9:360.31|DOID:12349|SCTID:2251002|ICD10:H44.44 SNOMEDCT:2251002|DOID:12349|UMLS:C0154782 http://purl.obolibrary.org/obo/MONDO_0001503 primary hypotony of eye MONDO:0001502 retroperitoneum carcinoma biolink:Disease mondo UMLS:C0948749|NCIT:C7352|DOID:12342 A carcinoma that arises from epithelial cells of the retroperitoneal space. UMLS:C0948749|NCIT:C7352|DOID:12342 http://purl.obolibrary.org/obo/MONDO_0001502 carcinoma of the retroperitoneum|carcinoma of retroperitoneal space|carcinoma of retroperitoneum|retroperitoneal space carcinoma|retroperitoneal cancer|retroperitoneal carcinoma MONDO:0001501 retroperitoneal sarcoma biolink:Disease mondo DOID:12341|NCIT:C4832|SCTID:307219002|UMLS:C0585129 A sarcoma involving a retroperitoneal space. SNOMEDCT:307219002|DOID:12341|UMLS:C0585129|NCIT:C4832 http://purl.obolibrary.org/obo/MONDO_0001501 retroperitoneal space sarcoma|retroperitoneal sarcoma|sarcoma of retroperitoneal space MONDO:0001500 gender identity disorder biolink:Disease mondo ICD10:F64.2|ICD9:302.89|DOID:1234|ICD9:302.8|ICD9:302.6|ICD9:302.85|SCTID:87991007|EFO:0008587|NCIT:C94362 A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery). NCIT:C94362|SNOMEDCT:87991007|DOID:1234 http://purl.obolibrary.org/obo/MONDO_0001500 NCBITaxon:1649845 Yersinia pseudotuberculosis complex organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1649845 UBERON:0010362 endoskeleton biolink:AnatomicalEntity mondo Skeletal subdivision that undergoes indirect development and includes elements that develop as a replacement or substitution of other elements or tissues. http://purl.obolibrary.org/obo/UBERON_0010362 replacement skeleton UBERON:0010363 endochondral element biolink:AnatomicalEntity mondo A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. http://purl.obolibrary.org/obo/UBERON_0010363 endochondral replacement element UBERON:0010360 pharyngeal arch mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a entire pharyngeal arch associated mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010360 arch mesenchyme from head mesenchyme|branchial arch mesenchyme from head mesenchyme|head mesenchyme derived arch mesenchyme HP:0010541 Cutis gyrata of scalp biolink:PhenotypicFeature mondo UMLS:C4072877|SNOMEDCT_US:51603000|UMLS:C4280378|UMLS:C0263417 The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. http://purl.obolibrary.org/obo/HP_0010541 Thickened folds on top of scalp|Scalp folds|Cutis verticis gyrata|Thickening of the scalp|Furrows in thickened skin on top of scalp|Scalp furrows UBERON:0010366 conjunctival vasculature biolink:AnatomicalEntity mondo A vasculature that is part of a conjunctiva. http://purl.obolibrary.org/obo/UBERON_0010366 conjunctival veins set|conjunctival veins|venae conjunctivales|set of conjunctival veins UBERON:0010367 conjunctival vein biolink:AnatomicalEntity mondo A vein that is part of a conjunctiva. http://purl.obolibrary.org/obo/UBERON_0010367 conjunctival blood vessel UBERON:0010364 dermal skeleton biolink:AnatomicalEntity mondo Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. http://purl.obolibrary.org/obo/UBERON_0010364 exoskeleton|desmoskeleton|dermoskeleton|dermal skeletal system UBERON:0010365 odontoid tissue biolink:AnatomicalEntity mondo Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. http://purl.obolibrary.org/obo/UBERON_0010365 dental tissue|tooth hard tissue|tooth substance|odontogenic tissue|tooth tissue|substance of tooth|portion of substance of tooth NCBITaxon:27994 Theileriidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_27994 UBERON:0010359 pharyngeal arch mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a entire pharyngeal arch associated mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010359 neural crest derived arch mesenchyme|branchial arch mesenchyme from neural crest|arch mesenchyme from neural crest UBERON:0010358 arch of centrum of vertebra biolink:AnatomicalEntity mondo An arch-shaped structure of the vertebra that extends dorsally (neural arch) or ventrally (hemal arch) from the vertebral centrum http://purl.obolibrary.org/obo/UBERON_0010358 arcus vertebrae (vertebralis)|arch of vertebra|vertebra arch|vertebral arch HP:0010549 Weakness due to upper motor neuron dysfunction biolink:PhenotypicFeature mondo UMLS:C4021255 Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. http://purl.obolibrary.org/obo/HP_0010549 Paralysis due to lesions of the principle motor tracts HGNC:5042 HNRNPH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5042 HGNC:5044 HNRNPK biolink:OntologyClass mondo http://identifiers.org/hgnc/5044 MONDO:0001510 lateral displacement of eye biolink:Disease mondo DOID:12360|ICD10:H05.21|SCTID:48747004|ICD9:376.36|UMLS:C0155272 DOID:12360|UMLS:C0155272|SNOMEDCT:48747004 http://purl.obolibrary.org/obo/MONDO_0001510 lateral displacement of globe NCBITaxon:62323 funestus subgroup organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_62323 GO:1990542 mitochondrial transmembrane transport biolink:OntologyClass mondo The process in which a solute is transported from one side of a membrane to the other into, out of or within a mitochondrion. http://purl.obolibrary.org/obo/GO_1990542 CHEBI:76712 EC 4.2.* (C-O lyase) inhibitor biolink:ChemicalSubstance mondo A lyase inhibitor which inhibits the action of a C-O lyase (EC 4.2.*.*). http://purl.obolibrary.org/obo/CHEBI_76712 EC 4.2.* inhibitor|EC 4.2.* inhibitors|C-O lyase inhibitor|C-O lyase (EC 4.2.*) inhibitors|EC 4.2.* (C-O lyase) inhibitors|C-O lyase inhibitors|C-O lyase (EC 4.2.*) inhibitor MONDO:0001514 prolapse of urethra biolink:Disease mondo ICD9:618.03|ICD10:N81.0|UMLS:C0238502|ICD9:599.5|DOID:12369|SCTID:12068006|COHD:441906 Prolapse of the urethral mucosa from the exterior urethral opening. UMLS:C0238502|DOID:12369|SNOMEDCT:12068006|NCIT:C123256 http://purl.obolibrary.org/obo/MONDO_0001514 urethrocele MONDO:0001513 pulsating exophthalmos biolink:Disease mondo ICD9:376.35|SCTID:2284002|ICD10:H05.26|UMLS:C0155271|DOID:12364 SNOMEDCT:2284002|UMLS:C0155271|DOID:12364 http://purl.obolibrary.org/obo/MONDO_0001513 MONDO:0001512 intermittent proptosis biolink:Disease mondo ICD9:376.34|ICD10:H05.25|UMLS:C0155270|SCTID:49774006|DOID:12363 SNOMEDCT:49774006|DOID:12363|UMLS:C0155270 http://purl.obolibrary.org/obo/MONDO_0001512 intermittent exophthalmos MONDO:0001511 thyrotoxic exophthalmos biolink:Disease mondo ICD9:376.21|UMLS:C0155265|SCTID:19885005|COHD:440108|DOID:12362 SNOMEDCT:19885005|UMLS:C0155265|DOID:12362 http://purl.obolibrary.org/obo/MONDO_0001511 UBERON:0010355 ossification center biolink:AnatomicalEntity mondo The first step in ossification of the cartilage is that the cartilage cells, at the point where ossification is commencing and which is termed a ossification center, enlarge and arrange themselves in rows. The matrix in which they are imbedded increases in quantity, so that the cells become further separated from each other. A deposit of calcareous material now takes place in this matrix, between the rows of cells, so that they become separated from each other by longitudinal columns of calcified matrix, presenting a granular and opaque appearance. Here and there the matrix between two cells of the same row also becomes calcified, and transverse bars of calcified substance stretch across from one calcareous column to another. Thus there are longitudinal groups of the cartilage cells enclosed in oblong cavities, the walls of which are formed of calcified matrix which cuts off all nutrition from the cells; the cells, in consequence, atrophy, leaving spaces called the primary areolC&. http://purl.obolibrary.org/obo/UBERON_0010355 centrum ossificationis|ossification centre|center of ossification|centrum ossificationis NCBITaxon:62324 Anopheles funestus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_62324 African malaria mosquito UBERON:0010349 otic capsule pre-cartilage condensation biolink:AnatomicalEntity mondo A otic capsule endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0010349 otic capsule anlage UBERON:0010347 6th arch mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 6th arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010347 head mesenchyme derived arch 6 mesenchyme|branchial arch 6 mesenchyme from head mesenchyme|pharyngeal arch 6 mesenchyme from head mesenchyme HP:0010535 Sleep apnea biolink:PhenotypicFeature mondo MSH:D012891|UMLS:C0037315|SNOMEDCT_US:73430006 An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. http://purl.obolibrary.org/obo/HP_0010535 Pauses in breathing while sleeping|Sleep apnoea MONDO:0001507 viral labyrinthitis biolink:Disease mondo ICD9:386.35|COHD:75555|UMLS:C0155508|SCTID:409711008|DOID:12357 An labyrinthitis caused by infection with Viruses. DOID:12357|UMLS:C0155508|SNOMEDCT:409711008 http://purl.obolibrary.org/obo/MONDO_0001507 Viruses caused labyrinthitis|epidemic vertigo (finding)|Viruses labyrinthitis|epidemic vertigo MONDO:0001506 prostatocystitis biolink:Disease mondo ICD10:N41.3|SCTID:67685000|ICD9:601.3|DOID:12355|UMLS:C0156291 UMLS:C0156291|DOID:12355|SNOMEDCT:67685000 http://purl.obolibrary.org/obo/MONDO_0001506 MONDO:0001505 alcoholic hepatitis biolink:Disease mondo SCTID:235875008|DOID:12351|UMLS:C0001306|NCIT:C34684|ICD10:K70.1|ICD9:571.1|COHD:201343|CSP:1754-6978|MESH:D006519 Acute hepatitis resulting from ingestion of alcohol. UMLS:C0001306|NCIT:C34684|DOID:12351|MESH:D006519|SNOMEDCT:235875008 http://purl.obolibrary.org/obo/MONDO_0001505 acute alcoholic Hepatitis|acute alcoholic liver disease|alcoholic Hepatitis|alcoholic hepatitis|acute alcoholic hepatitis MONDO:0001504 fetishism biolink:Disease mondo DOID:1235|NCIT:C94353|MESH:D005329|ICD9:302.81|SCTID:59174009|ICD10:F65.0 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish"). NCIT:C94353|SNOMEDCT:59174009|DOID:1235|MESH:D005329 http://purl.obolibrary.org/obo/MONDO_0001504 CHEBI:76710 EC 4.* (lyase) inhibitor biolink:ChemicalSubstance mondo An enzyme inhibitor which interferes with the action of a lyase (EC 4.*.*.*). Lyases are enzymes cleaving C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation. http://purl.obolibrary.org/obo/CHEBI_76710 EC 4.* inhibitors|EC 4.* inhibitor|lyase (EC 4.*) inhibitor|EC 4.*.*.* inhibitors|lyase inhibitors|EC 4.*.*.* inhibitor|lyase inhibitor|EC 4.* (lyase) inhibitors|lyase (EC 4.*) inhibitorS OIO:hasAlternativeId has_alternative_id biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#hasAlternativeId MONDO:0001509 endocrine exophthalmos biolink:Disease mondo UMLS:C0155264|SCTID:276177000|DOID:12359|ICD9:376.2 SNOMEDCT:276177000|DOID:12359|UMLS:C0155264 http://purl.obolibrary.org/obo/MONDO_0001509 MONDO:0001508 patulous eustachian tube biolink:Disease mondo ICD10:H69.0|UMLS:C0155434|GARD:0010812|ICD10:H69.00|ICD9:381.7|SCTID:30280005|DOID:12358 A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. SNOMEDCT:30280005|UMLS:C0155434|DOID:12358 http://purl.obolibrary.org/obo/MONDO_0001508 MONDO:0001565 abnormal retinal correspondence biolink:Disease mondo ICD9:368.34|ICD10:H53.31|UMLS:C0155010|SCTID:79195003|DOID:12668 DOID:12668|SNOMEDCT:79195003|UMLS:C0155010 http://purl.obolibrary.org/obo/MONDO_0001565 MONDO:0001564 binocular vision disease biolink:Disease mondo ICD9:368.30|NCIT:C34422|ICD10:H53.30|SCTID:83275001|DOID:12667 Any inability to efficiently utilize and/or sustain binocular vision. DOID:12667|SNOMEDCT:83275001|NCIT:C34422 http://purl.obolibrary.org/obo/MONDO_0001564 binocular vision disorder|simultaneous visual perception without fusion CHEBI:76725 EC 1.* (oxidoreductase) inhibitor biolink:ChemicalSubstance mondo An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*). http://purl.obolibrary.org/obo/CHEBI_76725 EC 1.* (oxidoreductase) inhibitors|oxidoreductase inhibitors|oxidoreductase (EC 1.*) inhibitors|EC 1.* inhibitor|EC 1.* inhibitors|oxidoreductase inhibitor|oxidoreductase (EC 1.*) inhibitor MONDO:0001563 vestibulocochlear nerve disease biolink:Disease mondo NCIT:C27207|ICD9:388.5|ICD10:H93.3|UMLS:C0001163|ICD10:H93.3X|MESH:D000160|SCTID:77949003|DOID:12657 A disease involving the vestibulocochlear nerve. UMLS:C0001163|MESH:D000160|SNOMEDCT:77949003|NCIT:C27207|DOID:12657 http://purl.obolibrary.org/obo/MONDO_0001563 acoustic nerve disorder|disorder of vestibulocochlear nerve|disorder of the vestibulocochlear nerve|disorder of eighth nerve|disorder of acoustic nerve|disorder of vestibulocochlear nerve|vestibulocochlear nerve disease|vestibulocochlear nerve disorder|disorder of acoustovestibular nerve|disease or disorder of vestibulocochlear nerve|disease of vestibulocochlear nerve|acoustic nerve disease|vestibulocochlear nerve disease or disorder|acoustic nerve disorder NOS MONDO:0001562 displacement of cardia through esophageal hiatus biolink:Disease mondo ICD9:750.6|DOID:12641|ICD10:Q40.1|SCTID:47028006|COHD:198246 SNOMEDCT:47028006|DOID:12641 http://purl.obolibrary.org/obo/MONDO_0001562 congenital hiatus hernia MONDO:0001569 acoustic neuroma biolink:Disease mondo DOID:12689|MESH:D009464|CSP:2012-6947|NCIT:C3276|SCTID:126949007|GARD:0000223 A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing. DOID:12689|NCIT:C3276|SNOMEDCT:126949007|MESH:D009464 http://purl.obolibrary.org/obo/MONDO_0001569 acoustic Neuroma|acoustic neurilemmoma|acoustic tumor|vestibular neurilemmoma|acoustic schwannoma|neurinoma of the acoustic nerve|neurilemoma, acoustic|vestibular schwannoma|acoustic neurinoma|Neuroma, acoustic|acoustic neurilemoma gard_rare CHEBI:76729 EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor biolink:ChemicalSubstance mondo An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-CH group of donors (EC 1.3.*.*). http://purl.obolibrary.org/obo/CHEBI_76729 inhibitors of oxidoreductase acting on CH-CH group of donor|EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitors|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitors|inhibitor of oxidoreductase acting on CH-CH group of donor|EC 1.3.* inhibitor|EC 1.3.* inhibitors|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitor|inhibitor of oxidoreductase acting on CH-CH group of donors|inhibitors of oxidoreductase acting on CH-CH group of donors|oxidoreductase acting on donor CH-CH group inhibitors|oxidoreductase acting on donor CH-CH group inhibitor MONDO:0001568 mixed receptive-expressive language disorder biolink:Disease mondo ICD9:315.32|DOID:12685|ICD10:F80.2|NCIT:C92563|SCTID:25766007|COHD:441277 A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). DOID:12685|SNOMEDCT:25766007|NCIT:C92563 http://purl.obolibrary.org/obo/MONDO_0001568 MONDO:0001567 nephrocalcinosis biolink:Disease mondo MESH:D009397|ICD9:275.49|NCIT:C84918|GARD:0007177|UMLS:C0027709|SCTID:48638002|DOID:12679 Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. DOID:12679|NCIT:C84918|UMLS:C0027709|MESH:D009397|SNOMEDCT:48638002 http://purl.obolibrary.org/obo/MONDO_0001567 hypercalcemic nephropathy gard_rare CHEBI:76726 EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor biolink:ChemicalSubstance mondo An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*). http://purl.obolibrary.org/obo/CHEBI_76726 EC 1.1.* inhibitors|inhibitor of oxidoreductase acting on CH-OH group of donors|inhibitors of oxidoreductase acting on CH-OH group of donors|inhibitors of oxidoreductase acting on CH-OH group of donor|inhibitor of oxidoreductase acting on CH-OH group of donor|EC 1.1.* inhibitor|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitor|oxidoreductase acting on donor CH-OH group inhibitor|oxidoreductase acting on donor CH-OH group inhibitors|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitors|EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitors MONDO:0001566 hypercalcemia disease biolink:Disease mondo ICD9:275.42|COHD:435511|SCTID:66931009|ICD10:E83.52|MESH:D006934|HP:0003072|NCIT:C3112|UMLS:C0020437|DOID:12678 Abnormally high concentration of calcium in the peripheral blood. SNOMEDCT:66931009|DOID:12678|MESH:D006934|NCIT:C3112|UMLS:C0020437 http://purl.obolibrary.org/obo/MONDO_0001566 hypercalcemia MONDO:0013549 N-acetylaspartate deficiency biolink:Disease mondo UMLS:C3279716|OMIM:614063 UMLS:C3279716|http://identifiers.org/omim/614063 http://purl.obolibrary.org/obo/MONDO_0013549 naa deficiency|N-acetylaspartate deficiency; NACED|NACED|hypoacetylaspartia|N-acetylaspartate deficiency MONDO:0001561 pyloric stenosis (disease) biolink:Disease mondo MESH:D011707|ICD10:K31.1|HP:0002021|SCTID:367403001|DOID:12639|NCIT:C34966|DOID:3122|EFO:1000947|MedDRA:10062499|MESH:D017219 Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. SNOMEDCT:367403001|DOID:3122|NCIT:C34966|MESH:D011707|MESH:D017219|DOID:12639 http://purl.obolibrary.org/obo/MONDO_0001561 gastric outlet obstruction|GOO|pyloric stenosis|gastric outflow obstruction MONDO:0001560 hypertrophic pyloric stenosis biolink:Disease mondo EFO:0004707|COHD:192433|DOID:12638|ICD9:750.5|NCIT:C98952|ICD10:Q40.0|SCTID:48644003|OMIMPS:179010|DC:0000381|MESH:D046248 An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. NCIT:C98952|SNOMEDCT:48644003|DOID:12638|MESH:D046248 http://purl.obolibrary.org/obo/MONDO_0001560 congenital pyloric stenosis|infantile Hypertrophy of the pylorus|congenital constriction of the pylorus|infantile stricture of the pylorus|infantile hypertrophic pyloric stenosis|IHPS|congenital hypertrophic pyloric stenosis|congenital or infantile stricture of pylorus|infantile pyloric stenosis|congenital Hypertrophy of the pylorus|infantile constriction of the pylorus|congenital stricture of the pylorus|pyloric stenosis, infantile MONDO:0013554 psoriasis 13, susceptibility to biolink:Disease mondo OMIM:614070 Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. http://identifiers.org/omim/614070 http://purl.obolibrary.org/obo/MONDO_0013554 PSORS13|susceptibility to psoriasis 13|TRAF3IP2 psoriasis|psoriasis 13, susceptibility to; PSORS13|psoriasis caused by mutation in TRAF3IP2|psoriasis 13, susceptibility to predisposition MONDO:0013555 Hermansky-Pudlak syndrome 3 biolink:Disease mondo UMLS:C3888001|OMIM:614072|DOID:0060541 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene. DOID:0060541|http://identifiers.org/omim/614072|UMLS:C3888001 http://purl.obolibrary.org/obo/MONDO_0013555 Hermansky-Pudlak syndrome type 3|Hermansky-Pudlak syndrome caused by mutation in HPS3|HPS3|Hermansky-Pudlak syndrome 3|HPS3 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 3; HPS3 MONDO:0013552 hereditary spastic paraplegia 52 biolink:Disease mondo UMLS:C3279743|DOID:0110804|OMIM:614067 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene. http://identifiers.org/omim/614067|UMLS:C3279743|DOID:0110804 http://purl.obolibrary.org/obo/MONDO_0013552 spastic paraplegia 52, autosomal recessive; SPG52|hereditary spastic paraplegia caused by mutation in AP4S1|hereditary spastic paraplegia type 52|cerebral palsy, spastic quadriplegic, 6, formerly|cerebral palsy, spastic quadriplegic, 6|autosomal recessive spastic paraplegia 52|spastic paraplegia 52, autosomal recessive|AP4S1 hereditary spastic paraplegia|CPSQ6|SPG52|spastic quadriplegic cerebral palsy 6 MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 biolink:Disease mondo OMIM:614069|DOID:0090009|UMLS:C3279748|ICD10:D84.8 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene. http://identifiers.org/omim/614069|DOID:0090009|UMLS:C3279748 http://purl.obolibrary.org/obo/MONDO_0013553 ICF2|immunodeficiency-centromeric instability-facial anomalies syndrome type 2|ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome 2|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24|immunodeficiency-centromeric instability-Facial anomalies syndrome type 2|ICF syndrome 2|immunodeficiency-centromeric instability-facial anomalies syndrome 2; ICF2 MONDO:0013558 Hermansky-Pudlak syndrome 6 biolink:Disease mondo DOID:0060544|UMLS:C3888007|OMIM:614075|NCIT:C150369 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene. DOID:0060544|http://identifiers.org/omim/614075|UMLS:C3888007|NCIT:C150369 http://purl.obolibrary.org/obo/MONDO_0013558 Hermansky-Pudlak syndrome caused by mutation in HPS6|HPS6|Hermansky-Pudlak syndrome type 6|HPS6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 6; HPS6|Hermansky-Pudlak syndrome 6 MONDO:0013559 Hermansky-Pudlak syndrome 7 biolink:Disease mondo UMLS:C3279756|ICD10:E70.3|DOID:0060545|OMIM:614076|Orphanet:231531 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene. DOID:0060545|http://identifiers.org/omim/614076|ORPHA:231531|UMLS:C3279756 http://purl.obolibrary.org/obo/MONDO_0013559 DTNBP1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in DTNBP1|Hermansky-Pudlak syndrome type 7|HPS7|Hermansky-Pudlak syndrome 7; HPS7|Hermansky-Pudlak syndrome 7 ordo_clinical_subtype MONDO:0013556 Hermansky-Pudlak syndrome 4 biolink:Disease mondo UMLS:C3484357|OMIM:614073|DOID:0060542 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene. DOID:0060542|http://identifiers.org/omim/614073|UMLS:C3484357 http://purl.obolibrary.org/obo/MONDO_0013556 Hermansky-Pudlak syndrome type 4|Hermansky-Pudlak syndrome caused by mutation in HPS4|HPS4|HPS4 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 4|Hermansky-Pudlak syndrome 4; HPS4 MONDO:0013557 Hermansky-Pudlak syndrome 5 biolink:Disease mondo OMIM:614074|UMLS:C3888004|DOID:0060543 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene. DOID:0060543|http://identifiers.org/omim/614074|UMLS:C3888004 http://purl.obolibrary.org/obo/MONDO_0013557 Hermansky-Pudlak syndrome caused by mutation in HPS5|HPS5|Hermansky-Pudlak syndrome type 5|HPS5 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 5|Hermansky-Pudlak syndrome 5; HPS5 MONDO:0001559 perineocele biolink:Disease mondo DOID:12637|ICD9:618.05|ICD10:N81.81 DOID:12637 http://purl.obolibrary.org/obo/MONDO_0001559 MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement biolink:Disease mondo UMLS:C3279722|SCTID:733489002|ICD10:G71.0|OMIM:614065|Orphanet:63273|UMLS:C4518807 Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. ORPHA:63273|http://identifiers.org/omim/614065|SNOMEDCT:733489002|UMLS:C4518807|UMLS:C3279722 http://purl.obolibrary.org/obo/MONDO_0013550 myopathy, distal, 4|MPD4|myopathy, distal, 4; MPD4|myopathy, distal, type 4|Williams distal myopathy|distal ABD-filaminopathy ordo_disease MONDO:0013551 hereditary spastic paraplegia 47 biolink:Disease mondo DOID:0110799|OMIM:614066|UMLS:C3279738 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene. http://identifiers.org/omim/614066|UMLS:C3279738|DOID:0110799 http://purl.obolibrary.org/obo/MONDO_0013551 spastic paraplegia 47, autosomal recessive|CPSQ5|spastic paraplegia 47, autosomal recessive; SPG47|cerebral palsy, spastic quadriplegic, 5, formerly|cerebral palsy, spastic quadriplegic, 5|AP4B1 hereditary spastic paraplegia|spastic quadriplegic cerebral palsy 5|SPG47|autosomal recessive spastic paraplegia 47|hereditary spastic paraplegia type 47|hereditary spastic paraplegia caused by mutation in AP4B1 MONDO:0001576 telangiectasis biolink:Disease mondo DOID:1272|NCIT:C28194|SCTID:247479008|MESH:D013684|UMLS:C0039446 Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes. UMLS:C0039446|SNOMEDCT:247479008|MESH:D013684|NCIT:C28194|DOID:1272 http://purl.obolibrary.org/obo/MONDO_0001576 telangiectasia CHEBI:76736 EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor biolink:ChemicalSubstance mondo An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on a heme group of donors (EC 1.9.*.*). http://purl.obolibrary.org/obo/CHEBI_76736 EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitor|EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitors|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitors|EC 1.9.* inhibitors|EC 1.9.* inhibitor|EC 1.9.* (oxidoreductase acting on donor heme group) inhibitors|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitor MONDO:0001575 chronic gonococcal salpingitis biolink:Disease mondo COHD:193700|ICD9:098.37|UMLS:C0153208|SCTID:53529004|DOID:12718 Chronic form of gonococcal salpingitis. UMLS:C0153208|SNOMEDCT:53529004|DOID:12718 http://purl.obolibrary.org/obo/MONDO_0001575 gonococcal salpingitis|gonococcal salpingitis, chronic MONDO:0001574 capillary disease biolink:Disease mondo DOID:1271|ICD10:I78.9|UMLS:C0155765|ICD9:448.9|ICD9:448|ICD10:I78|SCTID:58729003 A disease involving a capillary. SNOMEDCT:58729003|DOID:1271|UMLS:C0155765 http://purl.obolibrary.org/obo/MONDO_0001574 disorder of capillary|capillary disease|disorder of capillary|disease or disorder of capillary|disease of capillaries|disease of capillary|capillary disease or disorder MONDO:0001573 obsolete Friedreich ataxia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001573 MONDO:0001579 corneal staphyloma biolink:Disease mondo DOID:12753|UMLS:C0152440|SCTID:52476003|ICD9:371.73|ICD10:H18.72 DOID:12753|SNOMEDCT:52476003|UMLS:C0152440 http://purl.obolibrary.org/obo/MONDO_0001579 MONDO:0001578 hernia of ovary and fallopian tube biolink:Disease mondo DOID:12735|ICD9:620.4|ICD10:N83.4 DOID:12735 http://purl.obolibrary.org/obo/MONDO_0001578 MONDO:0001577 respiratory syncytial virus infectious disease biolink:Disease mondo EFO:1001413|NCIT:C3354|SCTID:55735004|UMLS:C0035235|MESH:D018357|DOID:1273 Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children. NCIT:C3354|SNOMEDCT:55735004|UMLS:C0035235|DOID:1273|MESH:D018357 http://purl.obolibrary.org/obo/MONDO_0001577 Human respiratory syncytial virus infection|respiratory syncytial virus infection|infections, Human respiratory syncytial virus CHEBI:76738 EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor biolink:ChemicalSubstance mondo An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on peroxide as donors (EC 1.11.*.*). http://purl.obolibrary.org/obo/CHEBI_76738 EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitors|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* inhibitor|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitors|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitor|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitor|EC 1.11.* inhibitors|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitor MONDO:0013538 alpha-2-macroglobulin deficiency biolink:Disease mondo UMLS:C3279661|OMIM:614036|MESH:C566304 UMLS:C3279661|http://identifiers.org/omim/614036|MESH:C566304 http://purl.obolibrary.org/obo/MONDO_0013538 alpha-2-macroglobulin deficiency|A2MD|ALPHA-2-macroglobulin deficiency; A2MD MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome biolink:Disease mondo OMIM:614037|Orphanet:79507|SCTID:717185008|MESH:C565439|UMLS:C3279662 Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. MESH:C565439|UMLS:C3279662|ORPHA:79507|http://identifiers.org/omim/614037|SNOMEDCT:717185008 http://purl.obolibrary.org/obo/MONDO_0013539 leukotriene C4 synthase deficiency|LTC4 synthase deficiency ordo_disease MONDO:0001572 leiomyoma biolink:Disease mondo ICDO:8890/0|MESH:D007889|SCTID:146801000119103|ICD9:215.9|UMLS:C0023267|DOID:127|NCIT:C3157 A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C3157|DOID:127|SNOMEDCT:146801000119103|UMLS:C0023267|MESH:D007889 http://purl.obolibrary.org/obo/MONDO_0001572 leiomyomatous tumor|leiomyoma|fibroid|fibroid tumor|leiomyomatous neoplasm|leiomyomatous neoplasm (morphologic abnormality)|leiomyoma, benign|fibroid neoplasm MONDO:0001571 gynecomastia biolink:Disease mondo NCIT:C3073|SCTID:4754008|HP:0000771|MESH:D006177|UMLS:C0018418|DOID:12698|ICD10:N62 Development of breast tissue in males. NCIT:C3073|SNOMEDCT:4754008|MESH:D006177|UMLS:C0018418|DOID:12698 http://purl.obolibrary.org/obo/MONDO_0001571 male organism hypertrophy of breast|hypertrophy of breast of male organism MONDO:0001570 obsolete locked-in syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001570 MONDO:0013543 trypsinogen deficiency biolink:Disease mondo OMIM:614044|SCTID:190953007|UMLS:C0268417|ICD9:277.89 SNOMEDCT:190953007|http://identifiers.org/omim/614044|UMLS:C0268417 http://purl.obolibrary.org/obo/MONDO_0013543 trypsinogen deficiency MONDO:0013544 atrial fibrillation, familial, 11 biolink:Disease mondo UMLS:C3279693|OMIM:614049 Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene. http://identifiers.org/omim/614049|UMLS:C3279693 http://purl.obolibrary.org/obo/MONDO_0013544 atrial fibrillation, familial, 11|atrial fibrillation, familial, type 11|familial atrial fibrillation caused by mutation in GJA5|ATFB11|atrial fibrillation, familial, 11; ATFB11|GJA5 familial atrial fibrillation MONDO:0013541 complex cortical dysplasia with other brain malformations 1 biolink:Disease mondo ICD10:Q04.3|GARD:0013032|DOID:0090137|UMLS:CN203402|Orphanet:300570|OMIM:614039 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene. ORPHA:300570|http://identifiers.org/omim/614039|UMLS:CN203402|DOID:0090137 http://purl.obolibrary.org/obo/MONDO_0013541 complex cortical dysplasia with other brain malformations caused by mutation in TUBB3|complex cortical dysplasia with other brain malformations type 1|cortical dysplasia, complex, with other brain malformations 1|cortical dysplasia, complex, with other brain malformations 1; CDCBM1|CDCBM1|TUBB3 complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 1|cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ordo_disease MONDO:0013542 Moyamoya disease 5 biolink:Disease mondo OMIM:614042|UMLS:C3279690 Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene. http://identifiers.org/omim/614042|UMLS:C3279690 http://purl.obolibrary.org/obo/MONDO_0013542 Moyamoya disease caused by mutation in ACTA2|MYMY5|ACTA2 Moyamoya disease|Moyamoya disease type 5|Moyamoya disease 5|Moyamoya disease 5; MYMY5 MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 biolink:Disease mondo ICD10:E88.8|OMIM:614053|DOID:0060332|UMLS:C3279708 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene. DOID:0060332|http://identifiers.org/omim/614053|UMLS:C3279708 http://purl.obolibrary.org/obo/MONDO_0013547 mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3|mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; MC5DN3|mitochondrial complex V (ATP synthase) deficiency, nuclear type 3|ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency|MC5DN3|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E|mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency biolink:Disease mondo MESH:C536005|UMLS:C0342735|OMIM:614055|GARD:0009154 UMLS:C0342735|http://identifiers.org/omim/614055|MESH:C536005 http://purl.obolibrary.org/obo/MONDO_0013548 ACETYL-CoA acetyltransferase-2 deficiency; ACAT2D|Acetyl CoA acetyltransferase 2 deficiency|ACAT2|Acat2 deficiency|ACAT2D|Acetocoenzyme A acetyltransferase 2|acetyl-CoA acetyltransferase-2 deficiency|acetoacetyl CoA thiolase, cytosolic MONDO:0013545 atrial fibrillation, familial, 12 biolink:Disease mondo UMLS:C3279695|OMIM:614050 Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene. http://identifiers.org/omim/614050|UMLS:C3279695 http://purl.obolibrary.org/obo/MONDO_0013545 ATFB12|atrial fibrillation, familial, 12; ATFB12|familial atrial fibrillation caused by mutation in ABCC9|atrial fibrillation, familial, 12|atrial fibrillation, familial, type 12|ABCC9 familial atrial fibrillation MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 biolink:Disease mondo DOID:0060331|OMIM:614052|MESH:C567528|GARD:0012965|SCTID:718212006|ICD10:G71.3|Orphanet:1194 A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. DOID:0060331|SNOMEDCT:718212006|http://identifiers.org/omim/614052|ORPHA:1194|MESH:C567528 http://purl.obolibrary.org/obo/MONDO_0013546 mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2|mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; MC5DN2|mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency|TMEM70 defect|mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 2|MC5DN2|3-MGCA type IV (3-MGCA-4) (formerly)|encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency|TMEM70-related mitochondrial encephalo-cardio-myopathy|neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency ordo_disease MONDO:0025518 aspirin allergy biolink:Disease mondo DOID:0040002|SCTID:293586001|ICD9:995.27|IEDB:RV A allergic disease involving a acetylsalicylic acid. SNOMEDCT:293586001|DOID:0040002 http://purl.obolibrary.org/obo/MONDO_0025518 allergy of acetylsalicylic acid|ASA allergy|acetylsalicylic acid allergy|acetylsalicylic acid allergic disease MONDO:0025517 shrimp allergy biolink:Disease mondo DOID:0040001 A allergic disease involving a shrimp food product. DOID:0040001 http://purl.obolibrary.org/obo/MONDO_0025517 shrimp food product allergic disease|allergy of shrimp food product CHEBI:76731 EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor biolink:ChemicalSubstance mondo An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-NH group of donors (EC 1.5.*.*). http://purl.obolibrary.org/obo/CHEBI_76731 EC 1.5.* inhibitors|inhibitor of oxidoreductase acting on CH-NH group of donor|EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitors|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitors|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitor|inhibitor of oxidoreductase acting on CH-NH group of donors|EC 1.5.* inhibitor|inhibitors of oxidoreductase acting on CH-NH group of donors|inhibitors of oxidoreductase acting on CH-NH group of donor MONDO:0013540 deafness-lymphedema-leukemia syndrome biolink:Disease mondo GARD:0013030|SCTID:700057001|OMIM:614038|ICD10:D46.7|UMLS:C3279664|Orphanet:3226|ICD9:757.0 Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. SNOMEDCT:700057001|http://identifiers.org/omim/614038|ORPHA:3226|UMLS:C3279664 http://purl.obolibrary.org/obo/MONDO_0013540 Emberger syndrome|lymphedema, primary, with myelodysplasia ordo_malformation_syndrome|gard_rare MONDO:0025510 pythiosis biolink:Disease mondo UMLS:C0276912|MESH:D058968|GARD:0011989|EFO:1001410 A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial. UMLS:C0276912|MESH:D058968 http://purl.obolibrary.org/obo/MONDO_0025510 pythium insidiosum infection|human pythiosis MONDO:0001543 lesion of sciatic nerve biolink:Disease mondo ICD10:G57.0|ICD9:355.0|SCTID:367137004|COHD:372888|UMLS:C0154748|ICD10:G57.00|DOID:12528 A peripheral nerve lesion that involves the sciatic nerve. DOID:12528|UMLS:C0154748|SNOMEDCT:367137004 http://purl.obolibrary.org/obo/MONDO_0001543 sciatic nerve peripheral nerve lesion|peripheral nerve lesion of sciatic nerve MONDO:0001542 common peroneal nerve lesion biolink:Disease mondo UMLS:C0270909|ICD10:G57.3|SCTID:399107008|COHD:437262|ICD10:G57.30|DOID:12527|ICD9:355.3 A peripheral nerve lesion that involves the common fibular nerve. DOID:12527|SNOMEDCT:399107008|UMLS:C0270909 http://purl.obolibrary.org/obo/MONDO_0001542 peripheral nerve lesion of common fibular nerve|common fibular nerve peripheral nerve lesion MONDO:0001541 plantar nerve lesion biolink:Disease mondo DOID:12524|COHD:138148|SCTID:193148004|UMLS:C0154752|ICD9:355.6|ICD10:G57.6|ICD10:G57.60 A peripheral nerve lesion that involves the plantar nerve. DOID:12524|UMLS:C0154752|SNOMEDCT:193148004 http://purl.obolibrary.org/obo/MONDO_0001541 lesion of plantar nerve, NOS|peripheral nerve lesion of plantar nerve|plantar nerve peripheral nerve lesion|lesion of plantar nerve MONDO:0025512 type II hypersensitivity reaction disease biolink:Disease mondo EFO:0005809 A disease that has its basis in the disruption of type II hypersensitivity. http://purl.obolibrary.org/obo/MONDO_0025512 type II hypersensitivity disease|disorder of type II hypersensitivity|disorder of type II hypersensitivity MONDO:0025511 inherited neuroendocrine tumor biolink:Disease mondo UMLS:CN202530|Orphanet:271847 An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. ORPHA:271847|UMLS:CN202530 http://purl.obolibrary.org/obo/MONDO_0025511 hereditary neuroendocrine neoplasm|genetic neuroendocrine tumor ordo_group_of_disorders MONDO:0001540 bagassosis biolink:Disease mondo NCIT:C34409|DOID:12522|SCTID:67242002|ICD10:J67.1|UMLS:C0004681|ICD9:495.1 An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis. DOID:12522|UMLS:C0004681|SNOMEDCT:67242002|NCIT:C34409 http://purl.obolibrary.org/obo/MONDO_0001540 bagasse extrinsic allergic alveolitis|extrinsic allergic alveolitis from bagasse|sugar cane worker pneumonitis MONDO:0025514 livedoid vasculopathy biolink:Disease mondo GARD:0012784|DOID:0040099|UMLS:C0343081|ICD9:709.1|SCTID:238762002|ICD10CM:L95.0|ICD9CM:709.1|ICD10:L95.0 Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia. SNOMEDCT:238762002|DOID:0040099|UMLS:C0343081 http://purl.obolibrary.org/obo/MONDO_0025514 livedo reticularis with summer ulcerations|livedo vasculitis|livedoid vasculopathy|idiopathic atrophic blanche|white atrophy|livedo reticularis with winter ulcerations|livedoid vasculitis|segmental hyalinizing vasculopathy gard_rare MONDO:0001547 atrophic nonflaccid tympanic membrane biolink:Disease mondo DOID:12546|ICD9:384.82|SCTID:72052003|COHD:374050|ICD10:H73.82|UMLS:C0155471 UMLS:C0155471|SNOMEDCT:72052003|DOID:12546 http://purl.obolibrary.org/obo/MONDO_0001547 MONDO:0001546 hypermobility of coccyx biolink:Disease mondo UMLS:C0158295|DOID:12537|SCTID:202809009|ICD9:724.71 DOID:12537|UMLS:C0158295|SNOMEDCT:202809009 http://purl.obolibrary.org/obo/MONDO_0001546 hypermobility of the coccyx|coccygeal hypermobility syndrome MONDO:0025513 autoimmune urticaria biolink:Disease mondo SCTID:402397006|ICD9:708.8|UMLS:C1304191 An autoimmune form of urticaria (disease). SNOMEDCT:402397006|UMLS:C1304191 http://purl.obolibrary.org/obo/MONDO_0025513 autoimmune urticaria|autoimmune urticaria (disease) MONDO:0001545 obsolete von willebrand disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001545 obsolete von willebrand's disease UBERON:0036990 wall of pharyngotympanic tube biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036990 pharyngotympanic tube wall MONDO:0001544 tibial nerve palsy biolink:Disease mondo ICD9:355.8|UMLS:C0154751|SCTID:365258000|DOID:12529 DOID:12529|UMLS:C0154751|SNOMEDCT:365258000 http://purl.obolibrary.org/obo/MONDO_0001544 MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 biolink:Disease mondo DOID:0060677|OMIM:614021|UMLS:C3151463|ICD10:I47.2 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene. UMLS:C3151463|DOID:0060677|http://identifiers.org/omim/614021 http://purl.obolibrary.org/obo/MONDO_0013529 ventricular tachycardia, catecholaminergic polymorphic, 3|catecholaminergic polymorphic ventricular tachycardia type 3|TECRL catecholaminergic polymorphic ventricular tachycardia|CVPT3|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL|ventricular tachycardia, catecholaminergic polymorphic, 3; CPVT3|CPVT3 MONDO:0013527 lissencephaly 4 biolink:Disease mondo OMIM:614019|UMLS:C3151461 Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene. UMLS:C3151461|http://identifiers.org/omim/614019 http://purl.obolibrary.org/obo/MONDO_0013527 lissencephaly type 4|lissencephaly 4; LIS4|lissencephaly 4, with microcephaly|lissencephaly (disease) caused by mutation in NDE1|lissencephaly 4|NDE1 lissencephaly (disease)|LIS4|lissencephaly 4 with microcephaly MONDO:0013528 intellectual disability, autosomal recessive 14 biolink:Disease mondo OMIM:614020|UMLS:C3151462 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene. UMLS:C3151462|http://identifiers.org/omim/614020 http://purl.obolibrary.org/obo/MONDO_0013528 MRT14|mental retardation, autosomal recessive 14; MRT14|intellectual disability, autosomal recessive 14|autosomal recessive non-syndromic intellectual disability caused by mutation in TECR|intellectual disability, autosomal recessive 14; MRT14|TECR autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 14|mental retardation, autosomal recessive 14|intellectual disability, autosomal recessive type 14 MONDO:0013532 protein Z deficiency biolink:Disease mondo OMIM:614024|UMLS:C3151465 http://identifiers.org/omim/614024|UMLS:C3151465 http://purl.obolibrary.org/obo/MONDO_0013532 protein Z deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency biolink:Disease mondo GARD:0012864|Orphanet:140905|SCTID:720940008|UMLS:C3151466|OMIM:614025|ICD10:E78.4 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated. http://identifiers.org/omim/614025|SNOMEDCT:720940008|UMLS:C3151466|ORPHA:140905 http://purl.obolibrary.org/obo/MONDO_0013533 hyperlipidemia due to hepatic lipase deficiency|hyperlipidemia due to HTGL deficiency|hyperlipidemia due to HL deficiency|hepatic lipase deficiency|lipc deficiency|HL deficiency|hyperlipidemia due to hepatic triacylglycerol lipase deficiency ordo_disease MONDO:0013530 atrial fibrillation, familial, 10 biolink:Disease mondo OMIM:614022|UMLS:C3151464 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene. http://identifiers.org/omim/614022|UMLS:C3151464 http://purl.obolibrary.org/obo/MONDO_0013530 SCN5A familial atrial fibrillation|familial atrial fibrillation caused by mutation in SCN5A|atrial fibrillation, familial, type 10|atrial fibrillation, familial, 10; ATFB10|ATFB10|atrial fibrillation, familial, 10 MONDO:0013531 PSPH deficiency biolink:Disease mondo ICD9:277.6|ICD10:E72.8|UMLS:C1291463|OMIM:614023|SCTID:124432005|DOID:0050724|Orphanet:79350 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome. SNOMEDCT:124432005|ORPHA:79350|UMLS:C1291463|http://identifiers.org/omim/614023|DOID:0050724 http://purl.obolibrary.org/obo/MONDO_0013531 phosphoserine phosphatase deficiency|3-phosphoserine phosphatase deficiency|PSPHD|phosphoserine phosphatase deficiency; PSPHD ordo_disease MONDO:0013536 heme oxygenase 1 deficiency biolink:Disease mondo MESH:C564200|UMLS:C1841651|OMIM:614034|Orphanet:562509 MESH:C564200|UMLS:C1841651|http://identifiers.org/omim/614034|ORPHA:562509 http://purl.obolibrary.org/obo/MONDO_0013536 heme oxygenase 1 deficiency|heme oxygenase 1 deficiency; HMOX1D|HMOX1D ordo_disease MONDO:0013537 autosomal recessive nonsyndromic deafness 29 biolink:Disease mondo UMLS:C3279660|OMIM:614035|DOID:0110487|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene. UMLS:C3279660|DOID:0110487|http://identifiers.org/omim/614035 http://purl.obolibrary.org/obo/MONDO_0013537 CLDN14 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 29|autosomal recessive deafness 29|DFNB29|autosomal recessive nonsyndromic deafness type 29|deafness, autosomal recessive 29; DFNB29|autosomal recessive nonsyndromic deafness caused by mutation in CLDN14|deafness, autosomal recessive type 29 MONDO:0013534 apolipoprotein c-III deficiency biolink:Disease mondo MESH:C566270|UMLS:C3151467|OMIM:614028 http://identifiers.org/omim/614028|MESH:C566270|UMLS:C3151467 http://purl.obolibrary.org/obo/MONDO_0013534 apolipoprotein c-III deficiency|hyperalphalipoproteinemia 2 MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency biolink:Disease mondo OMIM:614033|UMLS:C3279657|MESH:C564215 UMLS:C3279657|MESH:C564215|http://identifiers.org/omim/614033 http://purl.obolibrary.org/obo/MONDO_0013535 glyoxalase 2 deficiency|hydroxyacyl glutathione hydrolase deficiency UBERON:0022351 parietal serous membrane biolink:AnatomicalEntity mondo Serous membrane layer that lines to a body cavity. http://purl.obolibrary.org/obo/UBERON_0022351 cavity lining|parietal wall of serous membrane MONDO:0025506 porcine postweaning multisystemic wasting syndrome biolink:Disease mondo UMLS:C1721016|MESH:D053570 A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2. UMLS:C1721016|MESH:D053570 http://purl.obolibrary.org/obo/MONDO_0025506 postweaning multisystemic wasting syndrome, porcine MONDO:0001539 retinal perforation biolink:Disease mondo DOID:12514|UMLS:C0035321|SCTID:232003005|MESH:D012167 A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters. MESH:D012167|NCIT:C50732|DOID:12514|UMLS:C0035321|SNOMEDCT:232003005 http://purl.obolibrary.org/obo/MONDO_0001539 retinal dialysis|retinal tear|retinal break UBERON:0022350 visceral serous membrane biolink:AnatomicalEntity mondo Serous membrane layer that is adjacent to and lines an organ. http://purl.obolibrary.org/obo/UBERON_0022350 visceral wall of serous membrane MONDO:0001538 retinal ischemia biolink:Disease mondo UMLS:C0162291|ICD9:362.84|DOID:12510|ICD10:H35.82|COHD:378142|SCTID:26468004 A ischemic disease that involves the retina. UMLS:C0162291|DOID:12510|SNOMEDCT:26468004 http://purl.obolibrary.org/obo/MONDO_0001538 ischemic disease of retina|retina ischemic disease CHEBI:15740 formate biolink:ChemicalSubstance mondo A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects. http://purl.obolibrary.org/obo/CHEBI_15740 hydrogen carboxylate|formate|aminate|formiate|methanoate|formylate|formic acid, ion(1-)|HCO2 anion OBO:chebi#is_conjugate_base_of is conjugate base of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of MONDO:0001537 tuberculous epididymitis biolink:Disease mondo ICD9:016.46|SCTID:83652003|ICD9:016.4|ICD9:016.40|UMLS:C0152814|ICD9:016.42|ICD9:016.41|DOID:1251 An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis. SNOMEDCT:83652003|DOID:1251|UMLS:C0152814 http://purl.obolibrary.org/obo/MONDO_0001537 UBERON:0022355 basal layer of endometrium biolink:AnatomicalEntity mondo The layer of endometrial epithelium adjacent to the uterine cavity. http://purl.obolibrary.org/obo/UBERON_0022355 stratum basalis of endometrium|pars basalis of endometrium CHEBI:76740 EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor biolink:ChemicalSubstance mondo An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases), EC 1.13.*.*. http://purl.obolibrary.org/obo/CHEBI_76740 oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitors|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitors|EC 1.13.* inhibitors|EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitors|EC 1.13.* inhibitor UBERON:0022357 mesentery of ileum biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0022357 ileal mesentery|mesoileum|ileum mesentery CHEBI:76741 EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor biolink:ChemicalSubstance mondo An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on hydrogen as donors (EC 1.14.*.*). http://purl.obolibrary.org/obo/CHEBI_76741 inhibitor of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|inhibitors of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|inhibitors of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitors|inhibitor of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|EC 1.14.* inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitor|EC 1.14.* inhibitor|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitor|EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors UBERON:0022356 outer layer of endometrium biolink:AnatomicalEntity mondo The layer of endometrial epithelium adjacent to the myometrium. http://purl.obolibrary.org/obo/UBERON_0022356 stratum functionalis of endometrium|functional layer of endometrium MONDO:0001554 phacogenic glaucoma biolink:Disease mondo SCTID:392300000|UMLS:C0339590|DOID:12571|COHD:434030|ICD9:365.59 Secondary glaucoma caused by either excessive size or spheric shape of the lens. DOID:12571|UMLS:C0339590|SNOMEDCT:392300000 http://purl.obolibrary.org/obo/MONDO_0001554 lens induced angle closure glaucoma|phacomorphic glaucoma|lens swelling glaucoma UBERON:0022358 placenta blood vessel biolink:AnatomicalEntity mondo A blood vessel of the placenta. http://purl.obolibrary.org/obo/UBERON_0022358 placental vessel MONDO:0001553 phacolytic glaucoma biolink:Disease mondo DOID:12570|UMLS:C0152137|COHD:441556|ICD9:365.51|SCTID:32893002 An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens. DOID:12570|SNOMEDCT:32893002|UMLS:C0152137 http://purl.obolibrary.org/obo/MONDO_0001553 endophthalmitis phacoanaphylactica MONDO:0001552 dyscalculia (disease) biolink:Disease mondo DOID:12568|SCTID:47916000|HP:0002442|NCIT:C97165|MESH:D060705|ICD9:315.1 A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties. NCIT:C97165|DOID:12568|SNOMEDCT:47916000|MESH:D060705 http://purl.obolibrary.org/obo/MONDO_0001552 disorder of arithmetical skills|mathematics disorder|dyscalculia MONDO:0001551 ulceration of vulva biolink:Disease mondo DOID:12566|UMLS:C0156339|ICD9:616.50|SCTID:68640004|COHD:253815|ICD10:N77.0|ICD10:N76.6|ICD9:616.51 DOID:12566|SNOMEDCT:68640004|UMLS:C0156339 http://purl.obolibrary.org/obo/MONDO_0001551 ulceration of vulva|vulvar ulceration MONDO:0001558 Potter sequence biolink:Disease mondo SCTID:41962002|GARD:0004462|ICD10:Q60.6|DOID:12594|NCIT:C40435|UMLS:C0178426 A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. SNOMEDCT:41962002|DOID:12594|UMLS:C0178426|NCIT:C40435 http://purl.obolibrary.org/obo/MONDO_0001558 Potter syndrome|oligohydramnios sequence|Potter's sequence|Potter's syndrome gard_rare UBERON:0010391 parametrium biolink:AnatomicalEntity mondo The subserous connective tissue of the pelvic floor of the supracervical portion of the uterus. The parametrium extends laterally between the layers of the broad ligament. http://purl.obolibrary.org/obo/UBERON_0010391 MONDO:0001557 olecranon bursitis biolink:Disease mondo ICD9:726.33|ICD10:M70.2|SCTID:425940002|COHD:134452|DOID:12581|UMLS:C3887895|UMLS:C0263962 A bursitis that involves the olecranon. DOID:12581|UMLS:C0263962|SNOMEDCT:425940002|UMLS:C3887895 http://purl.obolibrary.org/obo/MONDO_0001557 shoe boil|bursitis of elbow region|bursitis of elbow|olecranon bursitis|capped elbow|miner's elbow|elbow bursitis (& olecranon)|bursitis of olecranon|Miners' elbow|elbow bursitis CHEBI:76759 EC 3.* (hydrolase) inhibitor biolink:ChemicalSubstance mondo Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* inhibitor|hydrolase (EC 3.*) inhibitor|EC 3.*.*.* inhibitors|hydrolase inhibitors|EC 3.* (hydrolase) inhibitors|hydrolase inhibitor|EC 3.*.*.* inhibitor|EC 3.* inhibitors|hydrolase (EC 3.*) inhibitors MONDO:0001556 urethral obstruction (disease) biolink:Disease mondo HP:0000796|DOID:12577|UMLS:C0041972|MESH:D014524|ICD9:599.69|SCTID:95588004 Blockage of the normal flow of urine in the urethra. SNOMEDCT:95588004|UMLS:C0041972|DOID:12577|NCIT:C79804|MESH:D014524 http://purl.obolibrary.org/obo/MONDO_0001556 urethral obstruction|obstruction of urethra MONDO:0025505 mink viral enteritis biolink:Disease mondo MESH:D053489|UMLS:C1720999 A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route. MESH:D053489|UMLS:C1720999 http://purl.obolibrary.org/obo/MONDO_0025505 enteritis, infectious, of mink|viral enteritis, mink|enteritis, mink viral|viral enteritides, mink|enteritides, mink viral|mink viral enteritides MONDO:0001555 neonatal thyrotoxicosis biolink:Disease mondo NCIT:C114906|ICD9:775.3|UMLS:C0158983|COHD:137099|DOID:12573|SCTID:13795004|ICD10:P72.1 A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. NCIT:C114906|SNOMEDCT:13795004|DOID:12573|UMLS:C0158983 http://purl.obolibrary.org/obo/MONDO_0001555 infantile hyperthyroidism UBERON:0010390 lumen of urethra biolink:AnatomicalEntity mondo An organ cavity that is part of a urethra. http://purl.obolibrary.org/obo/UBERON_0010390 urethral lumen MONDO:0013518 pituitary hormone deficiency, combined, 6 biolink:Disease mondo OMIM:613986|UMLS:C3151440 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene. http://identifiers.org/omim/613986|UMLS:C3151440 http://purl.obolibrary.org/obo/MONDO_0013518 pituitary hormone deficiency, combined, type 6|pituitary hormone deficiency, combined, 6|combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2|pituitary hormone deficiency, combined, 6; CPHD6|CPHD6|OTX2 combined pituitary hormone deficiencies, genetic form MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 biolink:Disease mondo DOID:0070017|UMLS:C3151441|OMIM:613987 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3. http://identifiers.org/omim/613987|UMLS:C3151441|DOID:0070017 http://purl.obolibrary.org/obo/MONDO_0013519 dyskeratosis congenita, autosomal recessive 2; DKCB2|dyskeratosis congenita, autosomal recessive type 2|dyskeratosis congenita, autosomal recessive 2|DKCB2|autosomal recessive dyskeratosis congenita 2 HP:0010576 Intracranial cystic lesion biolink:PhenotypicFeature mondo UMLS:C4021250 A cystic lesion originating within the brain. http://purl.obolibrary.org/obo/HP_0010576 Cerebral cystic malformation MONDO:0013516 retinitis pigmentosa 60 biolink:Disease mondo ICD10:H35.5|OMIM:613983|DOID:0110411|UMLS:C3151434 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene. http://identifiers.org/omim/613983|UMLS:C3151434|DOID:0110411 http://purl.obolibrary.org/obo/MONDO_0013516 retinitis pigmentosa 60|retinitis pigmentosa caused by mutation in PRPF6|retinitis pigmentosa 60; RP60|RP60|retinitis pigmentosa type 60|PRPF6 retinitis pigmentosa MONDO:0013517 beta-thalassemia HBB/LCRB biolink:Disease mondo OMIM:613985|SCDO:0000251 Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://identifiers.org/omim/613985 http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia UBERON:0010399 spleen trabecular artery biolink:AnatomicalEntity mondo one of the branches of the splenic artery[MP] http://purl.obolibrary.org/obo/UBERON_0010399 trabecular artery MONDO:0001550 obsolete Duane retraction syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001550 MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 biolink:Disease mondo UMLS:C3151443|OMIM:613989|DOID:0070016 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33. DOID:0070016|http://identifiers.org/omim/613989|UMLS:C3151443 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2|dyskeratosis congenita, autosomal dominant type 2|DKCA2|autosomal dominant dyskeratosis congenita 2|dyskeratosis congenita, autosomal recessive 4|dyskeratosis congenita, autosomal dominant 2; DKCA2 MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 biolink:Disease mondo UMLS:C3151445|OMIM:613990|DOID:0070018 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12. DOID:0070018|http://identifiers.org/omim/613990|UMLS:C3151445 http://purl.obolibrary.org/obo/MONDO_0013522 dyskeratosis congenita, autosomal dominant 3|dyskeratosis congenita, autosomal dominant 3; DKCA3|dyskeratosis congenita, autosomal dominant type 3|autosomal dominant dyskeratosis congenita 3|DKCA3 CHEBI:15734 primary alcohol biolink:ChemicalSubstance mondo A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://purl.obolibrary.org/obo/CHEBI_15734 Primary alcohol|primary alcohols|1-Alcohol|a primary alcohol MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 biolink:Disease mondo OMIM:613988|UMLS:C3151442|DOID:0070019 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1. DOID:0070019|http://identifiers.org/omim/613988|UMLS:C3151442 http://purl.obolibrary.org/obo/MONDO_0013520 DKCB3|autosomal recessive dyskeratosis congenita 3|dyskeratosis congenita, autosomal recessive type 3|dyskeratosis congenita, autosomal recessive 3; DKCB3|dyskeratosis congenita, autosomal recessive 3 MONDO:0013525 primary ciliary dyskinesia 16 biolink:Disease mondo DOID:0110613|UMLS:C3151460|ICD10:Q34.8|OMIM:614017 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene. UMLS:C3151460|DOID:0110613|http://identifiers.org/omim/614017 http://purl.obolibrary.org/obo/MONDO_0013525 primary ciliary dyskinesia type 16|ciliary dyskinesia, primary, type 16|primary ciliary dyskinesia 16 with or without situs inversus|CILD16|ciliary dyskinesia, primary, 16|primary ciliary dyskinesia caused by mutation in DNAL1|ciliary dyskinesia, primary, 16; CILD16|ciliary dyskinesia, primary, 16, with or without situs inversus|DNAL1 primary ciliary dyskinesia MONDO:0013526 progressive myoclonic epilepsy type 6 biolink:Disease mondo Orphanet:280620|GARD:0003872|OMIM:614018|ICD10:G40.3|UMLS:C3279627 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene. UMLS:C3279627|ORPHA:280620|http://identifiers.org/omim/614018 http://purl.obolibrary.org/obo/MONDO_0013526 GOSR2 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, type 6|PME type 6|North Sea progressive myoclonus epilepsy|EPM6|GOSR2-related progressive myoclonus ataxia|progressive myoclonus epilepsy type 6|epilepsy, progressive myoclonic, 6|epilepsy, progressive myoclonic, 6; EPM6|progressive myoclonic epilepsy caused by mutation in GOSR2 ordo_disease MONDO:0013523 Nestor-Guillermo progeria syndrome biolink:Disease mondo Orphanet:280576|ICD10:E34.8|OMIM:614008|GARD:0011008|UMLS:C3151446 ORPHA:280576|http://identifiers.org/omim/614008|UMLS:C3151446 http://purl.obolibrary.org/obo/MONDO_0013523 PSCOO|Nestor-Guillermo progeria syndrome|progeria syndrome, childhood-onset, with osteolysis|Nestor-Guillermo progeria syndrome; NGPS|NGPS gard_rare|ordo_malformation_syndrome UBERON:0022360 male mammary gland duct biolink:AnatomicalEntity mondo A mammary gland duct that is part of a male organism. This structure typically regresses. http://purl.obolibrary.org/obo/UBERON_0022360 MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency biolink:Disease mondo Orphanet:220443|OMIM:614009|ICD10:D69.8 http://identifiers.org/omim/614009|ORPHA:220443 http://purl.obolibrary.org/obo/MONDO_0013524 bleeding disorder, platelet-type, 13, susceptibility to|susceptibility to platelet-type bleeding disorder 13|bleeding disorder, platelet-type, 13, susceptibility to; BDPLT13|bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor|BDPLT13 ordo_disease|predisposition UBERON:0022361 lung field biolink:AnatomicalEntity mondo A specific region of the foregut into the area in which the lung will develop. http://purl.obolibrary.org/obo/UBERON_0022361 lung field MONDO:0001549 hemolytic-uremic syndrome biolink:Disease mondo Orphanet:544458|UMLS:C0019061|COHD:197253|MESH:D006463|GARD:0006588|SCTID:111407006|DOID:12554|NCIT:C75545|ICD10:D59.3|ICD9:283.11|OMIMPS:235400 Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. UMLS:C0019061|NCIT:C75545|SNOMEDCT:111407006|MESH:D006463|DOID:12554|ORPHA:544458 http://purl.obolibrary.org/obo/MONDO_0001549 acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')|HUS|haemolytic-uraemic syndrome|hemolytic uremic syndrome ordo_group_of_disorders MONDO:0001548 hepatic coma biolink:Disease mondo UMLS:C0019147|ICD9:070.42|ICD10:K72.91|DOID:12550|COHD:377604|SCTID:72836002 A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) UMLS:C0019147|DOID:12550|SNOMEDCT:72836002 http://purl.obolibrary.org/obo/MONDO_0001548 hepatocerebral intoxication HGNC:5099 HOXA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5099 UBERON:0000978 leg biolink:AnatomicalEntity mondo The portion of the hindlimb that contains both the stylopod and zeugopod. http://purl.obolibrary.org/obo/UBERON_0000978 lower extremity|tetrapod leg UBERON:0000979 tibia biolink:AnatomicalEntity mondo The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]. http://purl.obolibrary.org/obo/UBERON_0000979 shinbone|shankbone UBERON:0000974 neck biolink:AnatomicalEntity mondo An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. http://purl.obolibrary.org/obo/UBERON_0000974 neck (volume)|collum UBERON:0000975 sternum biolink:AnatomicalEntity mondo A midventral endochondral skeletal element which represents the origin site of the pectoral muscles[PHENOSCAPE:ad]. http://purl.obolibrary.org/obo/UBERON_0000975 breastbone|vertebrate sternum UBERON:0000976 humerus biolink:AnatomicalEntity mondo Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah] http://purl.obolibrary.org/obo/UBERON_0000976 mesomere 1 of pectoral appendage|humeri|humerus bone|proximal metapterygial mesomere of pectoral fin|proximal metapterygial mesomere of pectoral appendage UBERON:0000977 pleura biolink:AnatomicalEntity mondo The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion). http://purl.obolibrary.org/obo/UBERON_0000977 pleura|wall of pleural sac|pleural tissue HGNC:473 AMT biolink:OntologyClass mondo http://identifiers.org/hgnc/473 HGNC:470 AMPD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/470 HGNC:7602 MYO5A biolink:OntologyClass mondo http://identifiers.org/hgnc/7602 UBERON:0036925 wall of eyeball biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036925 eyeball wall NCBITaxon:2169971 Visna-maedi virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2169971 Maedi visna virus|Maedi visna virus MVV|Visna lentivirus|Visna virus|Maedi-Visna virus|Visna/maedi virus|Maedi/Visna virus HGNC:7601 MYO3A biolink:OntologyClass mondo http://identifiers.org/hgnc/7601 HGNC:7603 MYO5B biolink:OntologyClass mondo http://identifiers.org/hgnc/7603 HGNC:7606 MYO7A biolink:OntologyClass mondo http://identifiers.org/hgnc/7606 HGNC:7605 MYO6 biolink:OntologyClass mondo http://identifiers.org/hgnc/7605 UBERON:0000981 femur biolink:AnatomicalEntity mondo Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]. http://purl.obolibrary.org/obo/UBERON_0000981 os longissimum|proximal metapterygial mesomere of pelvic appendage|femoral bone|os femorale|mesomere 1 of pevlic appendage|thigh bone|proximal metapterygial mesomere of pelvic fin|os femoris UBERON:0000982 skeletal joint biolink:AnatomicalEntity mondo Anatomical cluster that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. http://purl.obolibrary.org/obo/UBERON_0000982 articular joint|articulation|joints|joint UBERON:0000983 metatarsus region biolink:AnatomicalEntity mondo A metapodium region that is part of a pes. http://purl.obolibrary.org/obo/UBERON_0000983 hindlimb equine cannon region|hind metapodium|metatarsal region|hindlimb cannon region|regio metatarsalis|metatarsus|metatarsal part of foot UBERON:0000964 cornea biolink:AnatomicalEntity mondo the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure http://purl.obolibrary.org/obo/UBERON_0000964 corneas|cornea of camera-type eye|tunica cornea UBERON:0000965 lens of camera-type eye biolink:AnatomicalEntity mondo Transparent part of camera-type eye that helps to refract light to be focused on the retina. http://purl.obolibrary.org/obo/UBERON_0000965 crystalline lens|lens|ocular lens|eye lens|camera-type eye lens|lenses|lens crystallina UBERON:0000966 retina biolink:AnatomicalEntity mondo The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. http://purl.obolibrary.org/obo/UBERON_0000966 retina of camera-type eye|tunica interna of eyeball|retinas|Netzhaut|inner layer of eyeball HGNC:483 ANG biolink:OntologyClass mondo http://identifiers.org/hgnc/483 HGNC:7609 MYO9B biolink:OntologyClass mondo http://identifiers.org/hgnc/7609 HGNC:7610 MYOC biolink:OntologyClass mondo http://identifiers.org/hgnc/7610 UBERON:0000970 eye biolink:AnatomicalEntity mondo An organ that detects light. http://purl.obolibrary.org/obo/UBERON_0000970 light-detecting organ|visual apparatus NCBITaxon:325675 unclassified Arteriviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_325675 UBERON:0000956 cerebral cortex biolink:AnatomicalEntity mondo The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon. It consists of the neocortex (6 layered cortex or isocortex), the hippocampal formation and the olfactory cortex. http://purl.obolibrary.org/obo/UBERON_0000956 cortex cerebri|cortical plate (areas)|cortex of cerebral hemisphere|pallium of the brain|brain cortex|cortex cerebralis|cortical plate (CTXpl) UBERON:0000957 lamina biolink:AnatomicalEntity mondo Any thin layer or plate. http://purl.obolibrary.org/obo/UBERON_0000957 laminar tissue UBERON:0022303 nervous system cell part layer biolink:AnatomicalEntity mondo Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. http://purl.obolibrary.org/obo/UBERON_0022303 lamina|layer UBERON:0000958 medulla of organ biolink:AnatomicalEntity mondo Middle part of an organ, surrounded by the cortex. http://purl.obolibrary.org/obo/UBERON_0000958 medulla UBERON:0000959 optic chiasma biolink:AnatomicalEntity mondo A decussation of the diencephalon where the fibers of the optic nerve cross http://purl.obolibrary.org/obo/UBERON_0000959 chiasma nervorum opticorum|chiasma opticum|decussation of optic nerve fibers|optic chiasm|chiasma|optic chiasm (Rufus of Ephesus) UBERON:0000955 brain biolink:AnatomicalEntity mondo The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. http://purl.obolibrary.org/obo/UBERON_0000955 suprasegmental levels of nervous system|suprasegmental structures|encephalon|the brain|synganglion HGNC:452 AMBN biolink:OntologyClass mondo http://identifiers.org/hgnc/452 HGNC:451 AMACR biolink:OntologyClass mondo http://identifiers.org/hgnc/451 HGNC:450 ALX4 biolink:OntologyClass mondo http://identifiers.org/hgnc/450 NCBITaxon:2169992 Brazilian mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2169992 Sabia virus|Sabia mammarenavirus|Sabia arenavirus|Sabi mammarenavirus NCBITaxon:2169991 Argentinian mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2169991 Junin mammarenavirus|Junn mammarenavirus|Junin arenavirus|Junin virus CHEBI:25154 manganese molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25154 manganese molecular entity|manganese compounds|manganese molecular entities HGNC:7623 MYT1L biolink:OntologyClass mondo http://identifiers.org/hgnc/7623 UBERON:0000962 nerve of cervical vertebra biolink:AnatomicalEntity mondo The cervical nerves are the spinal nerves from the cervical vertebrae. Although there are seven cervical vertebrae (C1-C7), there are eight cervical nerves (C1-C8). All nerves except C8 emerge above their corresponding vertebrae, while the C8 nerve emerges below the C7 vertebra. (In the other portions of the spine, the nerve emerges below the vertebra with the same name. Dorsal (posterior) distribution includes the greater occipital (C2) and third occipital (C3). Ventral (anterior) distribution includes the cervical plexus (C1-C4) and brachial plexus (C5-C8) [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0000962 nervus cervicalis|cervical spinal nerve|cervical nerve tree|cervical nerve CHEBI:37134 elemental barium biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37134 CHEBI:37133 barium molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37133 barium molecular entity|barium compounds|barium molecular entities UBERON:0000945 stomach biolink:AnatomicalEntity mondo An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. http://purl.obolibrary.org/obo/UBERON_0000945 gaster|anterior intestine|stomach chamber|ventriculus|mesenteron UBERON:0000946 cardial valve biolink:AnatomicalEntity mondo A membranous fold of the heart that prevents reflux of fluid http://purl.obolibrary.org/obo/UBERON_0000946 heart valve|stomodaeal valve|valve of heart|heart valves|cardiac valve|heart valve|valvule HGNC:469 AMPD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/469 UBERON:0000947 aorta biolink:AnatomicalEntity mondo The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation http://purl.obolibrary.org/obo/UBERON_0000947 trunk of systemic arterial tree|dorsal aorta|arteria maxima|trunk of aortic tree UBERON:0000948 heart biolink:AnatomicalEntity mondo A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. http://purl.obolibrary.org/obo/UBERON_0000948 vertebrate heart|chambered heart|branchial heart|cardium|Herz@de HGNC:468 AMPD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/468 UBERON:0000941 cranial nerve II biolink:AnatomicalEntity mondo Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. http://purl.obolibrary.org/obo/UBERON_0000941 nerve II|2n|nervus opticus [II]|CN-II|optic II nerve|optic nerve|optic nerve [II]|02 optic nerve|optic|cranial II|second cranial nerve|nervus opticus|optic II HGNC:467 AMMECR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/467 HGNC:465 AMHR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/465 HGNC:464 AMH biolink:OntologyClass mondo http://identifiers.org/hgnc/464 HGNC:461 AMELX biolink:OntologyClass mondo http://identifiers.org/hgnc/461 UBERON:0000949 endocrine system biolink:AnatomicalEntity mondo Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system|systema endocrinum|endocrine glandular system HGNC:7632 NAGLU biolink:OntologyClass mondo http://identifiers.org/hgnc/7632 HGNC:7631 NAGA biolink:OntologyClass mondo http://identifiers.org/hgnc/7631 HGNC:438 ALPL biolink:OntologyClass mondo http://identifiers.org/hgnc/438 CHEBI:49104 heteroarenecarbaldehyde biolink:ChemicalSubstance mondo An aldehyde in which a formyl group is located on a heteroarene. http://purl.obolibrary.org/obo/CHEBI_49104 HGNC:436 ALOX5AP biolink:OntologyClass mondo http://identifiers.org/hgnc/436 HGNC:435 ALOX5 biolink:OntologyClass mondo http://identifiers.org/hgnc/435 HP:0010522 Dyslexia biolink:PhenotypicFeature mondo MSH:D004410|UMLS:C0476254|SNOMEDCT_US:9236007|SNOMEDCT_US:52824009|SNOMEDCT_US:59770006 A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). http://purl.obolibrary.org/obo/HP_0010522 Reading disability HGNC:430 ALOX12B biolink:OntologyClass mondo http://identifiers.org/hgnc/430 UBERON:0010341 1st arch mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010341 mesenchyme derived from head mesoderm of mesenchyme of 1st arch NCBITaxon:337687 Muroidea organism taxon mondo PMID:15371245|PMID:15019624|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_337687 UBERON:0010344 3rd arch mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 3rd arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010344 head mesenchyme derived arch 3 mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 3rd arch|pharyngeal arch 3 mesenchyme from head mesenchyme|branchial arch 3 mesenchyme from head mesenchyme UBERON:0010345 4th arch mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 4th arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010345 head mesenchyme derived arch 4 mesenchyme|pharyngeal arch 4 mesenchyme from head mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 4th arch|branchial arch 4 mesenchyme from head mesenchyme UBERON:0010343 2nd arch mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 2nd arch mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010343 head mesenchyme derived arch 2 mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 2nd arch|branchial arch 2 mesenchyme from head mesenchyme|pharyngeal arch 2 mesenchyme from head mesenchyme UBERON:0010337 mandibular process mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a mandibular process mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010337 UBERON:0010338 1st arch maxillary mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch maxillary mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010338 UBERON:0010335 maxillary process mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a maxillary process mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010335 HP:0010528 Prosopagnosia biolink:PhenotypicFeature mondo UMLS:C0234512|SNOMEDCT_US:18358003|MSH:D020238 Inability to recognize faces of familiar persons. http://purl.obolibrary.org/obo/HP_0010528 Face blindness|Facial agnosia HGNC:7646 NAT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7646 UBERON:0010336 mandibular process mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a mandibular process mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010336 HP:0010527 Astereognosia biolink:PhenotypicFeature mondo MSH:D000377|UMLS:C0234505|SNOMEDCT_US:25094008 Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. http://purl.obolibrary.org/obo/HP_0010527 Astereognosis|Somatosensory agnosia HP:0010525 Finger agnosia biolink:PhenotypicFeature mondo MSH:D000377|SNOMEDCT_US:3449007|UMLS:C0234509 An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. http://purl.obolibrary.org/obo/HP_0010525 NCBITaxon:337677 Cricetidae organism taxon mondo PMID:15371245|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_337677 HP:0010524 Agnosia biolink:PhenotypicFeature mondo MSH:D000377|SNOMEDCT_US:42341009|UMLS:C0001816 Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. http://purl.obolibrary.org/obo/HP_0010524 UBERON:0010339 1st arch mandibular mesenchyme from head mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mandibular mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010339 HGNC:428 ALMS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/428 HGNC:449 ALX3 biolink:OntologyClass mondo http://identifiers.org/hgnc/449 HGNC:445 SETX biolink:OntologyClass mondo http://identifiers.org/hgnc/445 HGNC:443 ALS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/443 UBERON:0010330 eyelid mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing eyelid. http://purl.obolibrary.org/obo/UBERON_0010330 UBERON:0010333 extraembryonic membrane mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a extraembryonic membrane. http://purl.obolibrary.org/obo/UBERON_0010333 UBERON:0010334 maxillary process mesenchyme from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a neural crest and is part of a maxillary process mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010334 UBERON:0010332 epithelium of handplate biolink:AnatomicalEntity mondo An epithelium that is part of a handplate. http://purl.obolibrary.org/obo/UBERON_0010332 handplate epithelium HP:0010514 Hyperpituitarism biolink:PhenotypicFeature mondo MSH:D006964|SNOMEDCT_US:10649000|UMLS:C0020506 Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. http://purl.obolibrary.org/obo/HP_0010514 UBERON:0010328 limb bud mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a limb bud. http://purl.obolibrary.org/obo/UBERON_0010328 UBERON:0010329 paired limb/fin bud mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a limb/fin bud. http://purl.obolibrary.org/obo/UBERON_0010329 HGNC:7652 NBN biolink:OntologyClass mondo http://identifiers.org/hgnc/7652 HGNC:414 ALDOA biolink:OntologyClass mondo http://identifiers.org/hgnc/414 UBERON:0000996 vagina biolink:AnatomicalEntity mondo A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. http://purl.obolibrary.org/obo/UBERON_0000996 vaginae|distal oviductal region|distal portion of oviduct UBERON:0000997 mammalian vulva biolink:AnatomicalEntity mondo external genital organs of the female mammal[WP]. http://purl.obolibrary.org/obo/UBERON_0000997 female pudendum|vulva|pudendum femininum|puboperineal region|skin of vulva|skin of female pudendum|pudendum femininum|mammalian vulva|pudendum|pudendum muliebre UBERON:0000998 seminal vesicle biolink:AnatomicalEntity mondo Either of a pair of glandular pouches that lie one on either side of the male reproductive tract posterolateral to the urinary bladder and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct. http://purl.obolibrary.org/obo/UBERON_0000998 glandula seminalis|vesicular seminalis|vesicular glands|vesiculæ seminales|vesicular gland|gonecyst|seminal gland|vesiculae seminales|vesicula seminalis|vas efferens|glandula vesiculosa UBERON:0000999 ejaculatory duct biolink:AnatomicalEntity mondo The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0000999 ductus ejaculatorii|ductus ejaculatorius|ductus ejaculatorii UBERON:0010323 cranial skeletal system biolink:AnatomicalEntity mondo Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. http://purl.obolibrary.org/obo/UBERON_0010323 osteocranium|cranium|cranial skeleton UBERON:0010321 skeletal element of eye region biolink:AnatomicalEntity mondo A skeletal element that is part of a orbital region. http://purl.obolibrary.org/obo/UBERON_0010321 skeletal element of orbital region|eye skeleton|ocular skeleton UBERON:0010316 germ layer / neural crest biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010316 HGNC:5004 HMGB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/5004 UBERON:0010313 neural crest-derived structure biolink:AnatomicalEntity mondo An anatomical structure that develops from the neural crest. http://purl.obolibrary.org/obo/UBERON_0010313 HGNC:5005 HMGCL biolink:OntologyClass mondo http://identifiers.org/hgnc/5005 UBERON:0010314 structure with developmental contribution from neural crest biolink:AnatomicalEntity mondo An anatomical structure that has some part that develops from the neural crest. http://purl.obolibrary.org/obo/UBERON_0010314 HGNC:5008 HMGCS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5008 HGNC:5009 HMGA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5009 HGNC:7660 NCF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7660 HGNC:7662 NCF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/7662 HGNC:409 ALDH1A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/409 HGNC:7661 NCF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7661 HGNC:408 ALDH5A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/408 HGNC:406 ALDH4A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/406 UBERON:0000989 penis biolink:AnatomicalEntity mondo A intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination http://purl.obolibrary.org/obo/UBERON_0000989 phallus|penes OBO:mondo#excluded_subClassOf excluded subClassOf biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#excluded_subClassOf HGNC:427 ALK biolink:OntologyClass mondo http://identifiers.org/hgnc/427 UBERON:0000985 axillary vein biolink:AnatomicalEntity mondo Vein that drains the axilla http://purl.obolibrary.org/obo/UBERON_0000985 subcostal vein|vena axillaris UBERON:0000988 pons biolink:AnatomicalEntity mondo The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. http://purl.obolibrary.org/obo/UBERON_0000988 pons Varolii|pons cerebri|pons of Varolius UBERON:0010312 immature eye biolink:AnatomicalEntity mondo Developing anatomical structure that develops into the eyeball and associated structures. http://purl.obolibrary.org/obo/UBERON_0010312 future eye UBERON:0010304 non-keratinized stratified squamous epithelium biolink:AnatomicalEntity mondo Stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesizes but does not accumulate keratin. Examples: epithelium of vagina, epithelium of wall of esophagus. http://purl.obolibrary.org/obo/UBERON_0010304 stratified squamous nonkeratinizing epithelium|nonkeratinizing stratified squamous epithelium|stratified squamous non-keratinized epithelium|epithelium stratificatum squamosum noncornificatum HGNC:7677 NSMCE3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7677 UBERON:0010305 subdivision of conjunctiva biolink:AnatomicalEntity mondo One of the three major regions of the conjunctiva. http://purl.obolibrary.org/obo/UBERON_0010305 region of conjunctiva|conjunctiva region HGNC:7679 NDRG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7679 UBERON:0010303 extraembryonic epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a extraembryonic structure. http://purl.obolibrary.org/obo/UBERON_0010303 extra-embryonic epithelium HGNC:5017 HMX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5017 HGNC:7678 NDP biolink:OntologyClass mondo http://identifiers.org/hgnc/7678 UBERON:0010309 palpebral bone biolink:AnatomicalEntity mondo An ossified element investing the upper eyelid. http://purl.obolibrary.org/obo/UBERON_0010309 palpebral UBERON:0000992 ovary biolink:AnatomicalEntity mondo the gonad of a female organism which contains germ cells http://purl.obolibrary.org/obo/UBERON_0000992 gonada of female organism reproductive system|female reproductive system gonad|genitalia of female organism gonad|gonad of female organism reproductive system|female gonad|ovarium|female organism genitalia gonada|reproductive system of female organism gonad|gonada of female organism genitalia|female organism reproductive system gonad|gonad of female organism genitalia|gonad of female reproductive system|gonad of genitalia of female organism|gonada of genitalia of female organism|ovum-producing ovary|gonada of female reproductive system|female organism reproductive system gonada|reproductive system of female organism gonada|animal ovary|female organism genitalia gonad|gonad of reproductive system of female organism|gonada of reproductive system of female organism|ovaries|genitalia of female organism gonada|female reproductive system gonada UBERON:0000993 oviduct biolink:AnatomicalEntity mondo A tube or collection of tubes in an animal from the ovaries to the outside of the body. http://purl.obolibrary.org/obo/UBERON_0000993 ovarian tube|ovarian duct|tuba uterinae|uterine tube|tubular parts of female reproductive system|tuba uterina|oviducts|female reproductive tracts HGNC:7671 NCOA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/7671 UBERON:0000995 uterus biolink:AnatomicalEntity mondo the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth http://purl.obolibrary.org/obo/UBERON_0000995 HGNC:5010 HMGA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5010 UBERON:0000990 reproductive system biolink:AnatomicalEntity mondo Anatomical system that has as its parts the organs concerned with reproduction. http://purl.obolibrary.org/obo/UBERON_0000990 Geschlechtsorgan|genital tract|reproductive tissue|genital system|reproductive tract|animal reproductive system|genitalia|organa genitalia|systemata genitalia HGNC:5012 HMMR biolink:OntologyClass mondo http://identifiers.org/hgnc/5012 HGNC:7675 NDN biolink:OntologyClass mondo http://identifiers.org/hgnc/7675 HGNC:417 ALDOB biolink:OntologyClass mondo http://identifiers.org/hgnc/417 UBERON:0000991 gonad biolink:AnatomicalEntity mondo Reproductive organ that produces and releases eggs (ovary) or sperm (testis). http://purl.obolibrary.org/obo/UBERON_0000991 gonads|gonada HGNC:5013 HMOX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5013 GO:0050309 sugar-terminal-phosphatase activity biolink:OntologyClass mondo Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. http://purl.obolibrary.org/obo/GO_0050309 sugar-omega-phosphate phosphohydrolase activity|xylitol-5-phosphatase activity CL:0000006 neuronal receptor cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000006 neuronal receptor cell (sensu Animalia) CL:0000008 migratory cranial neural crest cell biolink:Cell mondo Cell that is part of the migratory cranial neural crest population. Migratory cranial neural crest cells develop from premigratory cranial neural crest cells and have undergone epithelial to mesenchymal transition and delamination. http://purl.obolibrary.org/obo/CL_0000008 GO:0050308 sugar-phosphatase activity biolink:OntologyClass mondo Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphate phosphatase activity|sugar-phosphate phosphohydrolase activity CL:0000000 cell biolink:Cell mondo KUPO:0000002|GO:0005623|CALOHA:TS-2035|XAO:0003012|FMA:68646|WBbt:0004017|VHOG:0001533 A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. http://purl.obolibrary.org/obo/CL_0000000 _upper_level CL:0000003 native cell biolink:Cell mondo CARO:0000013 A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). http://purl.obolibrary.org/obo/CL_0000003 cell in vivo _upper_level CL:0000005 fibroblast neural crest derived biolink:Cell mondo Any fibroblast that is deriived from the neural crest. http://purl.obolibrary.org/obo/CL_0000005 ENVO:01000420 building part biolink:OntologyClass mondo A building part is a construction which is part of a building. http://purl.obolibrary.org/obo/ENVO_01000420 CL:0000017 spermatocyte biolink:Cell mondo FBbt:00004936|WBbt:0006799|CALOHA:TS-0951|BTO:0001275|EMAPA:31484|FMA:84049 A male germ cell that develops from spermatogonia. The euploid primary spermatocytes undergo meiosis and give rise to the haploid secondary spermatocytes which in turn give rise to spermatids. http://purl.obolibrary.org/obo/CL_0000017 CL:0000018 spermatid biolink:Cell mondo WBbt:0006800|EMAPA:31486|CALOHA:TS-0950|FMA:72294|BTO:0001274|FBbt:00004942 A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa. http://purl.obolibrary.org/obo/CL_0000018 nematoblast CL:0002679 natural helper lymphocyte biolink:Cell mondo A lymphocyte found in adipose tissue that lacks lineage markers of other lymphocytes but is capable of mediating TH2 cytokine responses. This cell type is found in fat associated lymphoid clusters, proliferates in response to IL2 and produce large amounts of TH2 cytokines such as IL5, IL6 and IL13 http://purl.obolibrary.org/obo/CL_0002679 CL:0000019 sperm biolink:Cell mondo BTO:0001277|WBbt:0006798|BTO:0002046|FBbt:00004954|CALOHA:TS-0949|FMA:67338 A mature male germ cell that develops from a spermatid. http://purl.obolibrary.org/obo/CL_0000019 sperm cell|spermatozoon|spermatozoid CL:0002672 retinal progenitor cell biolink:Cell mondo A multi-fate stem cell that can give rise to different retinal cell types including rod and cone cells. http://purl.obolibrary.org/obo/CL_0002672 CL:0000011 migratory trunk neural crest cell biolink:Cell mondo Cell that is part of the migratory trunk neural crest population. Migratory trunk neural crest cells develop from premigratory trunk neural crest cells and have undergone epithelial to mesenchymal transition and delamination. http://purl.obolibrary.org/obo/CL_0000011 CL:0002676 neural crest derived neuroblast biolink:Cell mondo A neuroblast derived from a neural crest cell. http://purl.obolibrary.org/obo/CL_0002676 CL:0000014 germ line stem cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000014 germline stem cell CL:0000015 male germ cell biolink:Cell mondo ncithesaurus:Spermatogenic_Cell|VHOG:0001531|FMA:72290|MA:0002765 Male germ cell is a germ cell that supports male gamete production. http://purl.obolibrary.org/obo/CL_0000015 NCBITaxon:181088 Haemaphysalis flava organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_181088 HGNC:26594 DOK7 biolink:OntologyClass mondo http://identifiers.org/hgnc/26594 ENVO:04000010 soil surface layer biolink:OntologyClass mondo A surface layer which is composed primarily of soil. http://purl.obolibrary.org/obo/ENVO_04000010 ENVO:04000006 concentration of carbon dioxide in seawater biolink:OntologyClass mondo The concentration of carbon dioxide when measured in seawater. http://purl.obolibrary.org/obo/ENVO_04000006 ENVO:04000004 concentration of carbon dioxide in air biolink:OntologyClass mondo The concentration of carbon dioxide when measured in air. http://purl.obolibrary.org/obo/ENVO_04000004 ENVO:04000003 concentration of carbon dioxide in soil biolink:OntologyClass mondo The concentration of carbon dioxide when measured in soil. http://purl.obolibrary.org/obo/ENVO_04000003 CHEBI:8386 pregnane biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_8386 pregnane GO:0003995 acyl-CoA dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor. http://purl.obolibrary.org/obo/GO_0003995 acyl-CoA reductase activity|acyl dehydrogenase activity|fatty acyl coenzyme A dehydrogenase activity|long-chain acyl coenzyme A dehydrogenase activity|acyl coenzyme A dehydrogenase activity|acyl CoA dehydrogenase activity|medium-chain acyl-CoA dehydrogenase activity|fatty-acyl-CoA dehydrogenase activity|acyl-CoA:acceptor 2,3-oxidoreductase activity|long-chain acyl-CoA dehydrogenase activity|medium-chain acyl-coenzyme A dehydrogenase activity|general acyl CoA dehydrogenase activity|acyl-CoA:(acceptor) 2,3-oxidoreductase activity CL:0002625 seminiferous tubule epithelial cell biolink:Cell mondo A cell of the seminiferous tubule epithelium. http://purl.obolibrary.org/obo/CL_0002625 NCBITaxon:2611341 Metamonada organism taxon mondo GC_ID:1|PMID:30257078 http://purl.obolibrary.org/obo/NCBITaxon_2611341 HGNC:26576 KY biolink:OntologyClass mondo http://identifiers.org/hgnc/26576 HGNC:26575 PRIMPOL biolink:OntologyClass mondo http://identifiers.org/hgnc/26575 CHEBI:50047 organic amino compound biolink:ChemicalSubstance mondo A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compounds NCBITaxon:2611352 Discoba organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2611352 HGNC:26582 UNC80 biolink:OntologyClass mondo http://identifiers.org/hgnc/26582 GO:0015986 ATP synthesis coupled proton transport biolink:OntologyClass mondo The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. http://purl.obolibrary.org/obo/GO_0015986 chemiosmosis CL:0002632 epithelial cell of lower respiratory tract biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0002632 GO:0015985 energy coupled proton transport, down electrochemical gradient biolink:OntologyClass mondo The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. http://purl.obolibrary.org/obo/GO_0015985 GO:0015980 energy derivation by oxidation of organic compounds biolink:OntologyClass mondo The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. http://purl.obolibrary.org/obo/GO_0015980 chemoorganotrophy HGNC:26559 ZFYVE27 biolink:OntologyClass mondo http://identifiers.org/hgnc/26559 HGNC:26558 HYLS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26558 GO:1904539 negative regulation of glycolytic process through fructose-6-phosphate biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of glycolytic process through fructose-6-phosphate. http://purl.obolibrary.org/obo/GO_1904539 downregulation of glycolytic process through fructose-6-phosphate|downregulation of glycolysis through fructose-6-phosphate|down-regulation of glycolysis through fructose-6-phosphate|down-regulation of glycolytic process through fructose-6-phosphate|negative regulation of glycolysis through fructose-6-phosphate|down regulation of glycolysis through fructose-6-phosphate|down regulation of glycolytic process through fructose-6-phosphate|inhibition of glycolytic process through fructose-6-phosphate|inhibition of glycolysis through fructose-6-phosphate HGNC:497 TRPA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/497 GO:1904538 regulation of glycolytic process through fructose-6-phosphate biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glycolytic process through fructose-6-phosphate. http://purl.obolibrary.org/obo/GO_1904538 regulation of glycolysis through fructose-6-phosphate HGNC:26551 DZIP1L biolink:OntologyClass mondo http://identifiers.org/hgnc/26551 HGNC:496 RIPK4 biolink:OntologyClass mondo http://identifiers.org/hgnc/496 HGNC:494 ANK3 biolink:OntologyClass mondo http://identifiers.org/hgnc/494 HGNC:493 ANK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/493 HGNC:492 ANK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/492 HGNC:491 ANGPTL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/491 GO:1904540 positive regulation of glycolytic process through fructose-6-phosphate biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of glycolytic process through fructose-6-phosphate. http://purl.obolibrary.org/obo/GO_1904540 upregulation of glycolysis through fructose-6-phosphate|upregulation of glycolytic process through fructose-6-phosphate|up-regulation of glycolytic process through fructose-6-phosphate|up-regulation of glycolysis through fructose-6-phosphate|up regulation of glycolytic process through fructose-6-phosphate|up regulation of glycolysis through fructose-6-phosphate|activation of glycolysis through fructose-6-phosphate|activation of glycolytic process through fructose-6-phosphate|positive regulation of glycolysis through fructose-6-phosphate HGNC:14579 VPS45 biolink:OntologyClass mondo http://identifiers.org/hgnc/14579 HGNC:26560 ODAD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26560 ENVO:01000406 snow biolink:OntologyClass mondo Snow is an environmental material which is primarily composed of flakes of crystalline water ice. http://purl.obolibrary.org/obo/ENVO_01000406 ENVO:01000408 environmental zone biolink:OntologyClass mondo A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. http://purl.obolibrary.org/obo/ENVO_01000408 environmental area HGNC:14581 PINK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14581 HGNC:14583 VPS11 biolink:OntologyClass mondo http://identifiers.org/hgnc/14583 FOODON:03430130 food (liquid) biolink:OntologyClass mondo SUBSET_SIREN:F5105 A state of matter between a solid and a gas, in which a substance has the capacity to flow and conforms to the shape of the container. Liquids range from water to honey, corresponding to a range in viscosity (or apparent viscosity) from 1 to 500 centipoise (viscosity is a measure of a liquid's resistance to flow). Products that are pourable but have a higher viscosity are *SEMILIQUID*. http://purl.obolibrary.org/obo/FOODON_03430130 HGNC:26530 CFAP53 biolink:OntologyClass mondo http://identifiers.org/hgnc/26530 MONDO:0013598 myostatin-related muscle hypertrophy biolink:Disease mondo GARD:0010238|DOID:0111072|MESH:C536106|HGNC:4223|ICD9:756.89|SCTID:699185005|OMIM:614160|Orphanet:275534 Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance. MESH:C536106|DOID:0111072|UMLS:C2931112|SNOMEDCT:699185005|ORPHA:275534|http://identifiers.org/omim/614160 http://purl.obolibrary.org/obo/MONDO_0013598 muscle hypertrophy; MSLHP|muscle hypertrophy|MSLHP ordo_disease|gard_rare MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome biolink:Disease mondo Orphanet:391487|UMLS:C3279990|GARD:0012314|ICD10:K63.9|OMIM:614162 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. ORPHA:391487|UMLS:C3279990|http://identifiers.org/omim/614162 http://purl.obolibrary.org/obo/MONDO_0013599 familial chronic mucocutaneous, autosomal dominant|immunodeficiency type 31C|IMD31C|CANDF7|candidiasis familial, 7|candidiasis familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant|immunodeficiency 31C|immunodeficiency 31C; IMD31C predisposition|ordo_disease MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013596 MONDO:0013597 platelet-type bleeding disorder 14 biolink:Disease mondo UMLS:C0398635|SCTID:234477002|OMIM:614158|DOID:0111047|MESH:C562866 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene. DOID:0111047|UMLS:C0398635|MESH:C562866|http://identifiers.org/omim/614158|SNOMEDCT:234477002 http://purl.obolibrary.org/obo/MONDO_0013597 thromboxane synthetase deficiency|TBXAS1 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in TBXAS1|bleeding disorder, platelet-type, 14|bleeding disorder, platelet-type, 14; BDPLT14|thromboxane synthase deficiency|BDPLT14 HGNC:14558 CLEC7A biolink:OntologyClass mondo http://identifiers.org/hgnc/14558 MONDO:0013590 Stickler syndrome, type 4 biolink:Disease mondo OMIM:614134 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene. http://identifiers.org/omim/614134 http://purl.obolibrary.org/obo/MONDO_0013590 STICKLER syndrome, type IV; STL4|STICKLER syndrome, type IV|COL9A1 autosomal recessive Stickler syndrome|STL4|autosomal recessive Stickler syndrome caused by mutation in COL9A1 MONDO:0013591 epiphyseal dysplasia, multiple, 6 biolink:Disease mondo DOID:0070301|UMLS:C2675767|OMIM:614135|GARD:0013376 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene. UMLS:C2675767|http://identifiers.org/omim/614135|DOID:0070301 http://purl.obolibrary.org/obo/MONDO_0013591 epiphyseal dysplasia, multiple, type 6|EDM6|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1|multiple epiphyseal dysplasia 6|epiphyseal dysplasia, multiple, 6|COL9A1 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, 6; EDM6 gard_rare CL:0000081 blood cell biolink:Cell mondo FMA:62844 A cell found predominately in the blood. http://purl.obolibrary.org/obo/CL_0000081 MONDO:0013594 spinocerebellar ataxia type 36 biolink:Disease mondo DOID:0050983|OMIM:614153|GARD:0012367|Orphanet:276198|UMLS:C3472711|SCTID:711158005|ICD10:G11.8|NCIT:C148316 Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia. SNOMEDCT:711158005|DOID:0050983|ORPHA:276198|http://identifiers.org/omim/614153|NCIT:C148316|UMLS:C3472711 http://purl.obolibrary.org/obo/MONDO_0013594 spinocerebellar ataxia 36|spinocerebellar ataxia type 36|Asidan|spinocerebellar ataxia 36; SCA36|SCA36 ordo_disease MONDO:0013595 hyperbiliverdinemia biolink:Disease mondo UMLS:C3279964|OMIM:614156|ICD10:K76.8|Orphanet:276405 Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. UMLS:C3279964|ORPHA:276405|http://identifiers.org/omim/614156 http://purl.obolibrary.org/obo/MONDO_0013595 HBLVD|hyperbiliverdinemia|hyperbiliverdinemia; HBLVD|green jaundice ordo_disease CL:0000083 epithelial cell of pancreas biolink:Cell mondo BTO:0000028 An epithelial cell of the pancreas. http://purl.obolibrary.org/obo/CL_0000083 pancreas epithelial cell|pancreatic epithelial cell MONDO:0013592 nonsyndromic congenital nail disorder 9 biolink:Disease mondo OMIM:614149|SCTID:87065009|DOID:0080087|UMLS:C3279947|ICD9:703.8 SNOMEDCT:87065009|UMLS:C3279947|http://identifiers.org/omim/614149|DOID:0080087 http://purl.obolibrary.org/obo/MONDO_0013592 nail disorder, nonsyndromic congenital, 9; NDNC9|nonsyndromic congenital nail disorder type 9|onychodystrophy|NDNC9|anonychia-onycholysis, isolated|nail disorder, nonsyndromic congenital, 9|nail dysplasia CL:0000084 T cell biolink:Cell mondo FMA:62870|VHOG:0001479|BTO:0000782|CALOHA:TS-1001 A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/CL_0000084 T-lymphocyte|mature T cell|immature T cell|T-cell|T lymphocyte MONDO:0013593 autosomal dominant nonsyndromic deafness 64 biolink:Disease mondo UMLS:C3279948|DOID:0110585|ICD10:H90.3|OMIM:614152 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene. UMLS:C3279948|DOID:0110585|http://identifiers.org/omim/614152 http://purl.obolibrary.org/obo/MONDO_0013593 deafness, autosomal dominant 64; DFNA64|autosomal dominant nonsyndromic deafness caused by mutation in DIABLO|DIABLO autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 64|autosomal dominant nonsyndromic deafness type 64|DFNA64|autosomal dominant deafness 64|deafness, autosomal dominant 64 clingen HGNC:14550 CDHR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14550 NCBITaxon:1131492 Aspergillaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1131492 MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency biolink:Disease mondo GARD:0003161|MESH:C563641|UMLS:C3279904|ICD10:E74.0|Orphanet:284435|OMIM:614128 A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner. ORPHA:284435|UMLS:C3279904|MESH:C563641|http://identifiers.org/omim/614128 http://purl.obolibrary.org/obo/MONDO_0013587 GSD due to lactate dehydrogenase H-subunit deficiency|lactate dehydrogenase deficiency type B|LDH-H subunit deficiency|LDH deficiency B|lactate dehydrogenase B deficiency|LDHBD|lactate dehydrogenase B deficiency; LDHBD|glycogenosis due to lactate dehydrogenase H-subunit deficiency gard_rare|ordo_clinical_subtype CL:0000097 mast cell biolink:Cell mondo FMA:66784|BTO:0000830|CALOHA:TS-0603 A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. http://purl.obolibrary.org/obo/CL_0000097 histaminocyte|mastocyte|labrocyte|tissue basophil MONDO:0013588 Perrault syndrome 3 biolink:Disease mondo UMLS:C3808414|OMIM:614129 Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene. UMLS:C3808414|http://identifiers.org/omim/614129 http://purl.obolibrary.org/obo/MONDO_0013588 CLPP Perrault syndrome|deafness, autosomal recessive 81, formerly|PRLTS3|Perrault syndrome caused by mutation in CLPP|deafness, autosomal recessive 81|Perrault syndrome type 3|Perrault syndrome 3; PRLTS3|Perrault syndrome 3 CL:0000098 sensory epithelial cell biolink:Cell mondo BTO:0004301 A specialized epithelial cell involved in sensory perception. Restricted to special sense organs of the olfactory, gustatory, and vestibulocochlear receptor systems; contain sensory cells surrounded by supportive, non-receptive cells. http://purl.obolibrary.org/obo/CL_0000098 neuroepithelial cell MONDO:0013585 hydrolethalus syndrome 2 biolink:Disease mondo OMIM:614120|UMLS:C3279899 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene. UMLS:C3279899|http://identifiers.org/omim/614120 http://purl.obolibrary.org/obo/MONDO_0013585 hydrolethalus syndrome 2; HLS2|HLS2|hydrolethalus syndrome caused by mutation in KIF7|hydrolethalus syndrome 2|KIF7 hydrolethalus syndrome|hydrolethalus syndrome type 2 MONDO:0013586 Chitotriosidase deficiency biolink:Disease mondo OMIM:614122|UMLS:C3279902 UMLS:C3279902|http://identifiers.org/omim/614122 http://purl.obolibrary.org/obo/MONDO_0013586 CHITD|Chitotriosidase deficiency|CHITOTRIOSIDASE deficiency; CHITD MONDO:0013589 focal segmental glomerulosclerosis 6 biolink:Disease mondo DOID:0111131|OMIM:614131|UMLS:C3279905|ICD10:N04.1 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. DOID:0111131|UMLS:C3279905|http://identifiers.org/omim/614131 http://purl.obolibrary.org/obo/MONDO_0013589 focal segmental glomerulosclerosis 6; FSGS6|MYO1E focal segmental glomerulosclerosis|FSGS6|focal segmental glomerulosclerosis 6|glomerulosclerosis, focal segmental, 6|focal segmental glomerulosclerosis type 6|focal segmental glomerulosclerosis caused by mutation in MYO1E MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency biolink:Disease mondo Orphanet:255138|OMIM:614111|MESH:C566729|ICD10:E74.4|UMLS:C3279841 Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia. ORPHA:255138|MESH:C566729|UMLS:C3279841|http://identifiers.org/omim/614111 http://purl.obolibrary.org/obo/MONDO_0013580 pyruvate dehydrogenase E1-BETA deficiency; PDHBD|PDHBD|pyruvate dehydrogenase E1-beta deficiency|pyruvate dehydrogenase complex E1 component subunit beta deficiency ordo_clinical_subtype MONDO:0013583 occipital pachygyria and polymicrogyria biolink:Disease mondo OMIM:614115|Orphanet:280640|UMLS:C3279875|ICD10:Q04.3 UMLS:C3279875|ORPHA:280640|http://identifiers.org/omim/614115 http://purl.obolibrary.org/obo/MONDO_0013583 occipital malformations of cortical development|OCCM|occipital MCD|cortical malformations, occipital|cortical malformations, occipital; OCCM ordo_malformation_syndrome MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome biolink:Disease mondo DOID:0070158|MESH:C580162|ICD10:G60.8|UMLS:C3279885|GARD:11927|Orphanet:456318|OMIM:614116|GARD:0011927 A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13. UMLS:C3279885|MESH:C580162|ORPHA:456318|DOID:0070158|http://identifiers.org/omim/614116 http://purl.obolibrary.org/obo/MONDO_0013584 HSNIE|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hereditary sensory neuropathy with hearing loss and dementia|hereditary sensory neuropathy type 1E|neuropathy, hereditary sensory, type IE; HSN1E|HSN1E|hereditary sensory neuropathy type IE|DNMT1-related dementia, deafness, and sensory neuropathy|HSAN1E|neuropathy, hereditary sensory, type IE|hereditary sensory and autonomic neuropathy type 1E|neuropathy, hereditary sensory, type 1E|HSN 1E|neuropathy, hereditary sensory, with hearing loss and dementia ordo_disease CL:0000094 granulocyte biolink:Cell mondo CALOHA:TS-0422|BTO:0000539|FMA:62854|BTO:0001026 A leukocyte with abundant granules in the cytoplasm. http://purl.obolibrary.org/obo/CL_0000094 granular leucocyte|polymorphonuclear leukocyte|granular leukocyte MONDO:0013581 intellectual disability, autosomal dominant 2 biolink:Disease mondo UMLS:C3279842|OMIM:614113|DOID:0070032 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene. UMLS:C3279842|DOID:0070032|http://identifiers.org/omim/614113 http://purl.obolibrary.org/obo/MONDO_0013581 autosomal dominant intellectual disability 2|mental retardation, autosomal dominant 2|intellectual disability, autosomal dominant type 2|mental retardation, autosomal dominant type 2|autosomal dominant non-syndromic intellectual disability 2|autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8|intellectual disability, autosomal dominant 2|autosomal dominant mental retardation 2|intellectual disability, autosomal dominant 2; MRD2|mental retardation, autosomal dominant 2; MRD2|DOCK8 autosomal dominant non-syndromic intellectual disability|MRD2 CL:0000095 neuron associated cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000095 MONDO:0013582 mosaic variegated aneuploidy syndrome 2 biolink:Disease mondo UMLS:C3279843|OMIM:614114|DOID:0080142 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene. DOID:0080142|UMLS:C3279843|http://identifiers.org/omim/614114 http://purl.obolibrary.org/obo/MONDO_0013582 CEP57 mosaic variegated aneuploidy syndrome|mosaic variegated aneuploidy syndrome 2|MOSAIC variegated aneuploidy syndrome 2; MVA2|MVA2|mosaic variegated aneuploidy syndrome caused by mutation in CEP57|mosaic variegated aneuploidy syndrome type 2|Mosaic variegated aneuploidy syndrome type 2 HGNC:14561 ARHGEF9 biolink:OntologyClass mondo http://identifiers.org/hgnc/14561 MONDO:0001587 obsolete mucopolysaccharidosis type 4 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001587 MONDO:0001586 mucopolysaccharidosis type 1 biolink:Disease mondo GARD:0010335|NCIT:C85053|SCTID:75610003|MedDRA:10056886|ICD10:E76.0|DOID:12802|Orphanet:579 The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). MEDDRA:10056886|UMLS:C2713321|SNOMEDCT:75610003|MESH:D008059|ORPHA:579|NCIT:C85053|UMLS:C0023786|DOID:12802 http://purl.obolibrary.org/obo/MONDO_0001586 IDUA deficiency|MPSI|Alpha-L-iduronidase deficiency|MPS 1|Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)|mucopolysaccharidosis I|Hurler-Scheie syndrome|iduronidase deficiency disease|severe MPS I (subtype, also known as Hurler syndrome)|attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)|mucopolysaccharidosis, MPS-I|MPS I - Hurler syndrome|mucopolysaccharidosis, type 1|MPS1|MPS I|lipochondrodystrophy|Hurler-Scheie syndrome (subtype)|Hurler syndrome|mucopolysaccharidosis type I|mucopolysaccharidosis type 1|Hurler syndrome (subtype) ordo_disease MONDO:0001585 hallucinogen abuse biolink:Disease mondo ICD9:305.3|SCTID:74851005|ICD10:F16.1|DOID:12797 A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. SNOMEDCT:74851005|DOID:12797 http://purl.obolibrary.org/obo/MONDO_0001585 MONDO:0025556 isocyanate induced asthma biolink:Disease mondo SCTID:404808000|DOID:0040041|ICD9:506.3|UMLS:C1321273 DOID:0040041|UMLS:C1321273|SNOMEDCT:404808000 http://purl.obolibrary.org/obo/MONDO_0025556 isocyanates allergic asthma HGNC:26513 NSMCE2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26513 CHEBI:76668 EC 2.7.* (P-containing group transferase) inhibitor biolink:ChemicalSubstance mondo A transferase inhibitor that inhibits the action of a phosphorus-containing group transferase (EC 2.7.*.*). http://purl.obolibrary.org/obo/CHEBI_76668 EC 2.7.* (phosphorus-containing group transferase) inhibitors|EC 2.7.* inhibitor|EC 2.7.* (P-containing group transferase) inhibitors|phosphorus-containing group transferase inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitor|phosphorus-containing group transferase inhibitor|EC 2.7.* inhibitors|EC 2.7.* (phosphorus-containing group transferase) inhibitor MONDO:0001584 ocular motility disease biolink:Disease mondo ICD9:378.9|DOID:1279|COHD:377885|EFO:1001990|GARD:0007237|SCTID:45030009 DOID:1279|SNOMEDCT:45030009 http://purl.obolibrary.org/obo/MONDO_0001584 disorder of eye movements|eye movement disorder MONDO:0001589 obsolete vaginal enterocele biolink:Disease mondo ICD10:N81.5|ICD10:K46|ICD9:618.6|DOID:1283|COHD:4162218|SCTID:398061002 SNOMEDCT:398061002|DOID:1283 http://purl.obolibrary.org/obo/MONDO_0001589 enterocele|vaginal hernia MONDO:0001588 chronic lacrimal gland enlargement biolink:Disease mondo COHD:381867|ICD9:375.03|DOID:12809|SCTID:4839005|UMLS:C1300133|ICD10:H04.03 UMLS:C1300133|SNOMEDCT:4839005|DOID:12809 http://purl.obolibrary.org/obo/MONDO_0001588 chronic enlargement of lacrimal gland MONDO:0001583 diabetic polyneuropathy biolink:Disease mondo ICD9:357.2|UMLS:C0271680|ICD10:G63.2|COHD:376112|DOID:12785|SCTID:49455004 UMLS:C0271680|SNOMEDCT:49455004|DOID:12785 http://purl.obolibrary.org/obo/MONDO_0001583 polyneuropathy in diabetes|diabetes mellitus with polyneuropathy MONDO:0001582 cicatricial ectropion biolink:Disease mondo DOID:12782|SCTID:28914006|COHD:376699|UMLS:C0155196|ICD9:374.14 UMLS:C0155196|DOID:12782|SNOMEDCT:28914006 http://purl.obolibrary.org/obo/MONDO_0001582 CHEBI:15705 L-alpha-amino acid biolink:ChemicalSubstance mondo Any alpha-amino acid having L-configuration at the alpha-carbon. http://purl.obolibrary.org/obo/CHEBI_15705 L-Amino acid|L-2-Amino acid|L-alpha-amino acids|L-alpha-amino acids|L-alpha-amino acid MONDO:0001581 obsolete tolosa-hunt syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001581 MONDO:0001580 lacrimal duct cancer biolink:Disease mondo UMLS:C0153631|DOID:12756|NCIT:C3567|ICD9:190.7|SCTID:188274004 A primary or metastatic malignant neoplasm affecting the lacrimal duct. NCIT:C3567|DOID:12756|SNOMEDCT:188274004|UMLS:C0153631 http://purl.obolibrary.org/obo/MONDO_0001580 malignant neoplasm of lacrimal drainage system|malignant neoplasm of the lacrimal duct|malignant lacrimal drainage system neoplasm|malignant lacrimal duct tumor|malignant tumor of the lacrimal duct|malignant lacrimal duct neoplasm|cancer of lacrimal drainage system|malignant tumor of lacrimal duct|malignant neoplasm of lacrimal duct|lacrimal drainage system cancer MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency biolink:Disease mondo Orphanet:183675|OMIM:614102|UMLS:C3279824|MESH:C564131 Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. http://identifiers.org/omim/614102|ORPHA:183675|MESH:C564131|UMLS:C3279824 http://purl.obolibrary.org/obo/MONDO_0013576 IgG subclass deficiency with IgA subclass deficiency|kappa-chain deficiency|IGKCD|IMMUNOGLOBULIN kappa LIGHT chain deficiency; IGKCD|selective IgG subclass deficiency|IMMUNOGLOBULIN kappa LIGHT chain deficiency|isolated IgG subclass deficiency|kappa chain deficiency ordo_disease CL:0000064 ciliated cell biolink:Cell mondo XAO:0000031|VHOG:0001532 A cell that has a filiform extrusion of the cell surface. http://purl.obolibrary.org/obo/CL_0000064 HGNC:14537 NPC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14537 MONDO:0013577 Lipedema (disease) biolink:Disease mondo Orphanet:77243|MESH:D065134|SCTID:234102003|OMIM:614103|ICD10:E65|MedDRA:10063955|HP:0100695 Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema. http://identifiers.org/omim/614103|UMLS:C0398370|SNOMEDCT:234102003|MESH:D065134|MEDDRA:10063955|ORPHA:77243 http://purl.obolibrary.org/obo/MONDO_0013577 lipedema ordo_disease MONDO:0013574 cutis laxa - Marfanoid syndrome biolink:Disease mondo UMLS:C0432335|Orphanet:171719|OMIM:614100|MESH:C563639|SCTID:254221009 SNOMEDCT:254221009|ORPHA:171719|UMLS:C0432335|MESH:C563639|http://identifiers.org/omim/614100 http://purl.obolibrary.org/obo/MONDO_0013574 cutis laxa - Marfanoid syndrome|cutis laxa, neonatal, with MARFANOID phenotype ordo_malformation_syndrome CL:0000066 epithelial cell biolink:Cell mondo BTO:0000414|FMA:66768|WBbt:0003672|CARO:0000077|CALOHA:TS-2026|FBbt:00000124 A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. http://purl.obolibrary.org/obo/CL_0000066 epitheliocyte HGNC:14539 RNF213 biolink:OntologyClass mondo http://identifiers.org/hgnc/14539 CL:0000067 ciliated epithelial cell biolink:Cell mondo FMA:70605 An epithelial cell that has a cilia. http://purl.obolibrary.org/obo/CL_0000067 MONDO:0013575 plasma fibronectin deficiency biolink:Disease mondo OMIM:614101 http://identifiers.org/omim/614101 http://purl.obolibrary.org/obo/MONDO_0013575 plasma fibronectin deficiency CL:0000068 duct epithelial cell biolink:Cell mondo An epithelial cell that is part of a duct. http://purl.obolibrary.org/obo/CL_0000068 CL:0000069 branched duct epithelial cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000069 MONDO:0013578 DYRK1A-related intellectual disability syndrome biolink:Disease mondo OMIM:614104|UMLS:C3279839|Orphanet:464306|DOID:0070037 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13. DOID:0070037|http://identifiers.org/omim/614104|ORPHA:464306|UMLS:C3279839 http://purl.obolibrary.org/obo/MONDO_0013578 autosomal dominant mental retardation 7|mental retardation, autosomal dominant type 7|mental retardation, autosomal dominant 7; MRD7|mental retardation, autosomal dominant 7|autosomal dominant intellectual disability 7|intellectual disability, autosomal dominant 7; MRD7|intellectual disability, autosomal dominant type 7|MRD7|intellectual disability, autosomal dominant 7|autosomal dominant non-syndromic intellectual disability 7 ordo_malformation_syndrome MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency biolink:Disease mondo UMLS:C3279840|OMIM:614105|MESH:C566402|ICD10:E71.1|Orphanet:289307 http://identifiers.org/omim/614105|MESH:C566402|UMLS:C3279840|ORPHA:289307 http://purl.obolibrary.org/obo/MONDO_0013579 methylmalonate semialdehyde dehydrogenase deficiency|MMSDHD|methylmalonate semialdehyde dehydrogenase deficiency; MMSDHD|developmental delay due to ALDH6A1 deficiency|developmental delay due to MMSDH deficiency|MMSDH deficiency|developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency ordo_disease MONDO:0013572 Keppen-Lubinsky syndrome biolink:Disease mondo Orphanet:435628|OMIM:614098|UMLS:C3279800|ICD10:E88.1 UMLS:C3279800|ORPHA:435628|http://identifiers.org/omim/614098 http://purl.obolibrary.org/obo/MONDO_0013572 Keppen-Lubinsky syndrome|KEPPEN-Lubinsky syndrome; KPLBS|generalized lipodystrophy-progeroid features-severe intellectual disability syndrome|KPLBS ordo_malformation_syndrome ECTO:9000266 chemical entity exposure biolink:OntologyClass mondo An exposure to chemical entity. http://purl.obolibrary.org/obo/ECTO_9000266 exposure to chemical entity MONDO:0013573 cranioectodermal dysplasia 3 biolink:Disease mondo UMLS:C3279807|OMIM:614099 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. UMLS:C3279807|http://identifiers.org/omim/614099 http://purl.obolibrary.org/obo/MONDO_0013573 cranioectodermal dysplasia 3|cranioectodermal dysplasia caused by mutation in IFT43|CED3|CRANIOECTODERMAL dysplasia 3; CED3|Cranioectodermal dysplasia type 3|IFT43 cranioectodermal dysplasia MONDO:0013570 combined oxidative phosphorylation defect type 8 biolink:Disease mondo UMLS:C3279793|ICD10:I42.2|Orphanet:319504|OMIM:614096|UMLS:C4518839|SCTID:733600007 Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement. SNOMEDCT:733600007|UMLS:C3279793|http://identifiers.org/omim/614096|ORPHA:319504|UMLS:C4518839 http://purl.obolibrary.org/obo/MONDO_0013570 combined oxidative phosphorylation deficiency type 8|cardiomyopathy, hypertrophic mitochondrial, fatal infantile|combined oxidative phosphorylation deficiency caused by mutation in AARS2|combined oxidative phosphorylation deficiency 8; COXPD8|combined oxidative phosphorylation deficiency 8|COXPD8|AARS2 combined oxidative phosphorylation deficiency ordo_disease CL:0000062 osteoblast biolink:Cell mondo CALOHA:TS-0720|BTO:0001593|FMA:66780 Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell. http://purl.obolibrary.org/obo/CL_0000062 MONDO:0013571 acatalasia biolink:Disease mondo SCTID:124202004|HGNC:1516|NCIT:C84526|MESH:D020642|DOID:2582|UMLS:C0268419|EFO:0004144|ICD9:277.6|OMIM:614097|ICD10:E80.3|GARD:0000363|Orphanet:926 Acatalasemia is a congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. ORPHA:926|DOID:2582|NCIT:C84526|SNOMEDCT:124202004|http://identifiers.org/omim/614097|MESH:D020642|UMLS:C0268419 http://purl.obolibrary.org/obo/MONDO_0013571 deficiency of catalase|catalase deficiency|acatalasemia|acatalasia ordo_disease MONDO:0001598 benign lymphoepithelial lesion of salivary gland biolink:Disease mondo UMLS:C0266995|ICD9:527.8|ICD10:K11.8|NCIT:C3949|SCTID:45517002|DOID:12899 A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma. NCIT:C3949|SNOMEDCT:45517002|UMLS:C0266995|DOID:12899 http://purl.obolibrary.org/obo/MONDO_0001598 benign lymphoepithelial lesion of salivary gland|benign lymphoepithelial lesion of the salivary gland|benign salivary gland lymphoepithelial lesion|Godwin tumor MONDO:0001597 submandibular gland disease biolink:Disease mondo UMLS:C0038557|MESH:D013364|DOID:12897 A disease involving the submandibular gland. MESH:D013364|UMLS:C0038557|DOID:12897 http://purl.obolibrary.org/obo/MONDO_0001597 disease of submandibular gland|submandibular gland disease or disorder|disorder of submandibular gland|disorder of submandibular gland|submandibular gland disease|disease or disorder of submandibular gland MONDO:0001596 hypochondriasis biolink:Disease mondo MESH:D006998|SCTID:18193002|COHD:434920|ICD10:F45.2|ICD10:F45.21|ICD9:300.7|DOID:12883 A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis. NCIT:C9493|DOID:12883|MESH:D006998|SNOMEDCT:18193002 http://purl.obolibrary.org/obo/MONDO_0001596 hypochondria|hypochondriacal neurosis|hypochondriacal disorder MONDO:0001595 choreatic disease biolink:Disease mondo SCTID:230298007|HP:0002072|DOID:12859|ICD10:G25.5|Orphanet:1429|MESH:D002819|ICD9:333.5|NCIT:C84633|EFO:0004152|SCTID:230306001 A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease. MESH:D002819|ORPHA:1429|SNOMEDCT:230306001|SNOMEDCT:230298007|DOID:12859|NCIT:C84633|UMLS:C0393584 http://purl.obolibrary.org/obo/MONDO_0001595 chorea|hereditary benign chorea|hereditary chorea|benign familial chorea|hereditary progressive chorea without dementia|Bch|chorea, benign hereditary; BHC|BHC ordo_disease MONDO:0001599 obsolete Mikulicz disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001599 HGNC:26527 HGSNAT biolink:OntologyClass mondo http://identifiers.org/hgnc/26527 MONDO:0001590 quadriplegia biolink:Disease mondo NCIT:C50721|DOID:12835|UMLS:C0034372|ICD9:344.09|COHD:374914|MESH:D011782|ICD9:344.00|ICD10:G82.50|SCTID:11538006|ICD10:G82.5 Paralysis of all four limbs. NCIT:C50721|SNOMEDCT:11538006|MESH:D011782|UMLS:C0034372|DOID:12835 http://purl.obolibrary.org/obo/MONDO_0001590 tetraplegia|bilateral diplegia CHEBI:62031 polar amino acid zwitterion biolink:ChemicalSubstance mondo Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group. http://purl.obolibrary.org/obo/CHEBI_62031 a polar amino acid MONDO:0001594 Achilles bursitis biolink:Disease mondo ICD9:726.71|ICD10:M76.6|DOID:12857|UMLS:C0149846|COHD:439524 An bursitis involving a pathogenic inflammatory response in the calcaneal tendon. DOID:12857|UMLS:C0149846 http://purl.obolibrary.org/obo/MONDO_0001594 Haglund's disease|capped hock|Haglund's deformity|Achilles bursitis or tendinitis MONDO:0001593 rectal disease biolink:Disease mondo UMLS:C0034882|MESH:D012002|SCTID:5964004|ICD9:569.49|DOID:1285 A disease that involves the rectum. MESH:D012002|SNOMEDCT:5964004|DOID:1285|UMLS:C0034882 http://purl.obolibrary.org/obo/MONDO_0001593 rectum disease or disorder|disorder of rectum|disease of rectum|disease or disorder of rectum|disorder of rectum|rectum disease|rectal disorder HGNC:26521 LOXHD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26521 MONDO:0001592 prolapse of female genital organ biolink:Disease mondo SCTID:73998008|ICD10:N81|ICD9:618.89|ICD9:618.8|DOID:1284|UMLS:C0156349 UMLS:C0156349|DOID:1284|SNOMEDCT:73998008 http://purl.obolibrary.org/obo/MONDO_0001592 MONDO:0001591 senile entropion biolink:Disease mondo COHD:372322|DOID:12836|ICD9:374.01|SCTID:55408009|UMLS:C0155188 UMLS:C0155188|SNOMEDCT:55408009|DOID:12836 http://purl.obolibrary.org/obo/MONDO_0001591 involutional entropion MONDO:0013565 Fanconi anemia complementation group G biolink:Disease mondo EFO:0009046|DOID:0111086|NCIT:C125708|OMIM:614082 Fanconi anemia caused by mutations of the FANCG gene. NCIT:C125708|http://identifiers.org/omim/614082|DOID:0111086 http://purl.obolibrary.org/obo/MONDO_0013565 Fanconi anemia, complementation group G; FANCG|Fanconi Anemia, complementation group type G|FANCG|Fanconi anemia, complementation group G|Fanconi anemia complementation group type G CL:0000075 columnar/cuboidal epithelial cell biolink:Cell mondo A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. http://purl.obolibrary.org/obo/CL_0000075 MONDO:0013566 Fanconi anemia complementation group L biolink:Disease mondo OMIM:614083|DOID:0111082 Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. http://identifiers.org/omim/614083|DOID:0111082 http://purl.obolibrary.org/obo/MONDO_0013566 Fanconi Anemia, complementation Group 50|FANCL|Fanconi anemia caused by mutation in FANCL|Fanconi anemia, complementation group L; FANCL|Fanconi Anemia, complementation group type 50|FANCL Fanconi anemia|Fanconi anemia, complementation group L|Fanconi anemia complementation group type L CL:0000076 squamous epithelial cell biolink:Cell mondo CALOHA:TS-1249 http://purl.obolibrary.org/obo/CL_0000076 MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 biolink:Disease mondo DOID:0080138|ICD10:Q87.8|Orphanet:280633|OMIM:614080|GARD:0012781|UMLS:C3279775 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene. http://identifiers.org/omim/614080|DOID:0080138|UMLS:C3279775|ORPHA:280633 http://purl.obolibrary.org/obo/MONDO_0013563 multiple congenital anomalies-hypotonia-seizures syndrome|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN|multiple congenital anomalies-hypotonia-seizures syndrome type 1|MCAHS1|multiple congenital anomalies-hypotonia-seizures syndrome 1; MCAHS1|multiple congenital anomalies-hypotonia-seizures syndrome 1|PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability|PIGN-CDG|glycosylphosphatidylinositol biosynthesis defect 3|congenital disorder of glycosylation due to PIGN deficiency|multiple congenital anomalies - hypotonia - seizures syndrome ordo_malformation_syndrome CL:0000077 mesothelial cell biolink:Cell mondo FMA:66773 A flattened epithelial cell of mesenchymal origin that lines the serous cavity. http://purl.obolibrary.org/obo/CL_0000077 mesotheliocyte MONDO:0013564 anhaptoglobinemia biolink:Disease mondo OMIM:614081|UMLS:C3279786 http://identifiers.org/omim/614081|UMLS:C3279786 http://purl.obolibrary.org/obo/MONDO_0013564 ANHAPTOGLOBINEMIA; AHP|anhaptoglobinemia|hypohaptoglobinemia|Ahaptoglobinemia|AHP CL:0000079 stratified epithelial cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000079 MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly biolink:Disease mondo UMLS:C3279792|ICD10:Q77.2|OMIM:614091|DOID:0110090 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. http://identifiers.org/omim/614091|DOID:0110090|UMLS:C3279792 http://purl.obolibrary.org/obo/MONDO_0013569 short-rib thoracic dysplasia 7 with or without polydactyly|short rib-polydactyly syndrom type V|short-rib thoracic dysplasia 7 with or without polydactyly; SRTD7|short rib-polydactyly syndrome, type 5|SRPS5|SRTD7 HGNC:14544 WNK4 biolink:OntologyClass mondo http://identifiers.org/hgnc/14544 MONDO:0013567 atrial heart septal defect 3 biolink:Disease mondo UMLS:C3279790|MESH:C563540|ICD10:Q21.1|OMIM:614089|DOID:0110108 Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene. http://identifiers.org/omim/614089|DOID:0110108|UMLS:C3279790|MESH:C563540 http://purl.obolibrary.org/obo/MONDO_0013567 atrial heart septal defect type 3|atrial heart septal defect caused by mutation in MYH6|ASD3|MYH6 atrial heart septal defect|atrial septal defect type 3|atrial septal defect 3|atrial septal defect 3; ASD3 MONDO:0013568 sick sinus syndrome 3, susceptibility to biolink:Disease mondo OMIM:614090 Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene. http://identifiers.org/omim/614090 http://purl.obolibrary.org/obo/MONDO_0013568 SSS3|sick sinus syndrome 3, susceptibility to; SSS3|susceptibility to sick sinus syndrome 3|familial sick sinus syndrome caused by mutation in MYH6|sick sinus syndrome 3, susceptibility to|MYH6 familial sick sinus syndrome predisposition NCBITaxon:555864 unclassified Bornaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_555864 HGNC:14540 WNK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14540 MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type biolink:Disease mondo Orphanet:280586|UMLS:C3279757|GARD:0011009|OMIM:614078 UMLS:C3279757|ORPHA:280586|http://identifiers.org/omim/614078 http://purl.obolibrary.org/obo/MONDO_0013561 gPAPP deficiency|chondrodysplasia with joint dislocations, gPAPP type ordo_malformation_syndrome CL:0000071 blood vessel endothelial cell biolink:Cell mondo An endothelial cell that lines the vasculature. http://purl.obolibrary.org/obo/CL_0000071 cuboidal endothelial cell of vascular tree MONDO:0013562 aspergillosis, susceptibility to biolink:Disease mondo OMIM:614079 http://identifiers.org/omim/614079 http://purl.obolibrary.org/obo/MONDO_0013562 susceptibility to aspergillosis|aspergillosis, susceptibility to predisposition MONDO:0013560 Hermansky-Pudlak syndrome 8 biolink:Disease mondo Orphanet:231537|OMIM:614077|DOID:0060546|UMLS:CN201510|ICD10:E70.3|UMLS:C3888026 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene. UMLS:C3888026|ORPHA:231537|UMLS:CN201510|DOID:0060546|http://identifiers.org/omim/614077 http://purl.obolibrary.org/obo/MONDO_0013560 Hermansky-Pudlak syndrome caused by mutation in BLOC1S3|Hermansky-Pudlak syndrome type 8|Hermansky-Pudlak syndrome 8; HPS8|Hermansky-Pudlak syndrome 8|BLOC1S3 Hermansky-Pudlak syndrome|HPS8 ordo_clinical_subtype HGNC:14508 MRPS22 biolink:OntologyClass mondo http://identifiers.org/hgnc/14508 CL:0000047 neuronal stem cell biolink:Cell mondo CALOHA:TS-2360|FMA:86684|BTO:0002881 Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors. http://purl.obolibrary.org/obo/CL_0000047 NSC|neural stem cell CL:0000048 multi fate stem cell biolink:Cell mondo FMA:84789 A stem cell that can give rise to multiple lineages of cells. http://purl.obolibrary.org/obo/CL_0000048 multifate stem cell|multi-fate stem cell|multipotent stem cell|multipotent cell CL:0000049 common myeloid progenitor biolink:Cell mondo BTO:0004730 A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/CL_0000049 myeloid stem cell|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|common myeloid precursor|CMP|CFU-GEMM|pluripotent stem cell (bone marrow)|CFU-S|multipotential myeloid stem cell CL:0000040 monoblast biolink:Cell mondo CALOHA:TS-1195|FMA:83553 A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. http://purl.obolibrary.org/obo/CL_0000040 CFU-M|colony forming unit macrophage|colony forming unit monocyte|monocyte stem cell HGNC:26504 AGBL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26504 UBERON:4000170 median fin skeleton biolink:AnatomicalEntity mondo Postcranial axial skeleton that is unpaired and located on the sagittal plane of the organism. http://purl.obolibrary.org/obo/UBERON_4000170 axial fin skeleton|unpaired fin skeleton CL:0000055 non-terminally differentiated cell biolink:Cell mondo BTO:0000125|FMA:84782 A precursor cell with a limited number of potential fates. http://purl.obolibrary.org/obo/CL_0000055 blast cell CL:0000056 myoblast biolink:Cell mondo FMA:70335|VHOG:0001529|BTO:0000222|FBbt:00005083|CALOHA:TS-0650 A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. http://purl.obolibrary.org/obo/CL_0000056 CL:0000057 fibroblast biolink:Cell mondo VHOG:0001482|CALOHA:TS-0362|FMA:63877|BTO:0000452 A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. http://purl.obolibrary.org/obo/CL_0000057 CL:0000058 chondroblast biolink:Cell mondo BTO:0003607|FMA:66783 Skeletogenic cell that is typically non-terminally differentiated, secretes an avascular, GAG rich matrix; is not buried in cartilage tissue matrix, retains the ability to divide, located adjacent to cartilage tissue (including within the perichondrium), and develops from prechondroblast (and thus prechondrogenic) cell. http://purl.obolibrary.org/obo/CL_0000058 chrondoplast CL:0000059 ameloblast biolink:Cell mondo FMA:70576|BTO:0001663 Skeletogenic cell that produces enamel, overlies the odontogenic papilla, and arises from the differentiation of a preameloblast cell. http://purl.obolibrary.org/obo/CL_0000059 enamel secreting cell|amelocyte UBERON:4000167 caudal fin skeleton biolink:AnatomicalEntity mondo Median fin skeleton supporting the caudal fin. http://purl.obolibrary.org/obo/UBERON_4000167 CL:0000050 megakaryocyte-erythroid progenitor cell biolink:Cell mondo A progenitor cell committed to the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/CL_0000050 colony forming unit erythroid megakaryocyte|MEP|megakaryocyte/erythrocyte progenitor|CFU-EM|megakaryocyte/erythroid progenitor cell|CFU-MegE|Meg/E progenitor CL:0000051 common lymphoid progenitor biolink:Cell mondo A oligopotent progenitor cell committed to the lymphoid lineage. http://purl.obolibrary.org/obo/CL_0000051 common lymphocyte precursor|lymphoid stem cell|CLP|ELP|early lymphocyte progenitor|lymphopoietic stem cell|common lymphoid precursor|common lymphocyte progenitor|committed lymphopoietic stem cell MONDO:0025598 pneumonia caused by chlamydia biolink:Disease mondo ICD9:483.1|MESH:D061387|ICD10:J16.0|UMLS:C0339959|DOID:0040083|SCTID:233609002 An pneumonia caused by infection with Chlamydia. SNOMEDCT:233609002|UMLS:C0339959|MESH:D061387|DOID:0040083 http://purl.obolibrary.org/obo/MONDO_0025598 Chlamydia pneumonia|chlamydial pneumonia|chlamydia pneumonia|Chlamydia caused pneumonia UBERON:4000164 caudal fin biolink:AnatomicalEntity mondo The caudal fin is the most posterior median fin. It is composed of a complex of modified centra and modified neural and hemal arches and spines. http://purl.obolibrary.org/obo/UBERON_4000164 nageoire caudale|tail|uroptérygie|tail fin|uroptère UBERON:4000162 median fin biolink:AnatomicalEntity mondo Fin that is an unpaired fin located in the sagittal plane of the organism. http://purl.obolibrary.org/obo/UBERON_4000162 périssoptérygie|nageoire impaire CL:0000029 neuron neural crest derived biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000029 CL:0000020 spermatogonium biolink:Cell mondo BTO:0000958|FMA:72291|CALOHA:TS-2193|FBbt:00004935|EMAPA:31482 An euploid male germ cell of an early stage of spermatogenesis. http://purl.obolibrary.org/obo/CL_0000020 CL:0000027 smooth muscle cell neural crest derived biolink:Cell mondo A smooth muscle cell derived from the neural crest. http://purl.obolibrary.org/obo/CL_0000027 CL:0000039 germ line cell biolink:Cell mondo A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. http://purl.obolibrary.org/obo/CL_0000039 _upper_level CL:0000031 neuroblast (sensu Vertebrata) biolink:Cell mondo FMA:70563|BTO:0000930 A cell that will develop into a neuron often after a migration phase. http://purl.obolibrary.org/obo/CL_0000031 neuroblast CL:0000034 stem cell biolink:Cell mondo CALOHA:TS-2086|FMA:63368 A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/CL_0000034 CL:0000035 single fate stem cell biolink:Cell mondo FMA:70569 A stem cell that self-renews as well as give rise to a single mature cell type. http://purl.obolibrary.org/obo/CL_0000035 unipotent stem cell|unipotential stem cell CL:0000036 epithelial fate stem cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000036 NCBITaxon:372083 Diphyllobothrium cordatum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_372083 CL:0000037 hematopoietic stem cell biolink:Cell mondo VHOG:0001485|FMA:70337|BTO:0000725|CALOHA:TS-0448|FMA:86475 A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. http://purl.obolibrary.org/obo/CL_0000037 blood forming stem cell|colony forming unit hematopoietic|hemopoietic stem cell|HSC CL:0000038 erythroid progenitor cell biolink:Cell mondo BTO:0004911 A progenitor cell committed to the erythroid lineage. http://purl.obolibrary.org/obo/CL_0000038 blast forming unit erythroid|colony forming unit erythroid|erythroid stem cell|burst forming unit erythroid|CFU-E|BFU-E CL:0000030 glioblast biolink:Cell mondo FBbt:00005145 http://purl.obolibrary.org/obo/CL_0000030 MONDO:0001400 schwannoma of ureter biolink:Disease mondo DOID:11888|NCIT:C6162|UMLS:C1336877 A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter. NCIT:C6162|DOID:11888|UMLS:C1336877 http://purl.obolibrary.org/obo/MONDO_0001400 ureter neurilemmoma|ureteral schwannoma|ureter schwannoma|neurilemmoma of ureter|neurilemmoma of the ureter|schwannoma of the ureter|ureteral neurilemmoma CHEBI:27638 cobalt atom biolink:ChemicalSubstance mondo A cobalt group element atom that has atomic number 27. http://purl.obolibrary.org/obo/CHEBI_27638 cobalt|Cobalt|27Co|cobalto|Co|cobaltum|Kobalt|cobalt MONDO:0001404 ecthyma biolink:Disease mondo ICD9:686.8|MESH:D004473|DOID:11907|EFO:1000689|UMLS:C0013568|SCTID:85791004 An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed) UMLS:C0013568|MESH:D004473|DOID:11907|SNOMEDCT:85791004 http://purl.obolibrary.org/obo/MONDO_0001404 HP:0012862 Abnormal germ cell morphology biolink:PhenotypicFeature mondo UMLS:C4022704 Any structural anomaly of a reproductive cell. http://purl.obolibrary.org/obo/HP_0012862 Abnormally shaped reproductive cell|Abnormally shaped germ cell|Abnormal shape of a reproductive cell HP:0012863 Abnormal male germ cell morphology biolink:PhenotypicFeature mondo UMLS:C4022703 A structural anomaly of a male reproductive cell. http://purl.obolibrary.org/obo/HP_0012863 MONDO:0001403 labium majus cancer biolink:Disease mondo NCIT:C7638|UMLS:C0496814|COHD:4178970|ICD10:C51.0|SCTID:363446004|DOID:11905|ICD9:184.1 A malignant neoplasm involving the labium majora. NCIT:C7638|SNOMEDCT:363446004|DOID:11905|UMLS:C0496814 http://purl.obolibrary.org/obo/MONDO_0001403 labium majora cancer|malignant tumor of the labia majora|malignant labium majora neoplasm|malignant neoplasm of labium majora|malignant labia majora neoplasm|malignant neoplasm of the labia majora|malignant labia majora tumor|malignant neoplasm of labia majora|cancer of labium majora|malignant tumor of labia majora HP:0012864 Abnormal sperm morphology biolink:PhenotypicFeature mondo SNOMEDCT_US:236817003|UMLS:C0403824|MSH:D000072660 A structural anomaly of sperm. http://purl.obolibrary.org/obo/HP_0012864 Teratospermia|Teratozoospermia|Abnormal shape of sperm MONDO:0001402 vaginal cancer biolink:Disease mondo DOID:119|SCTID:363445000|MESH:D014625|ICD10:C52|GARD:0009348|ICD9:184.0|NCIT:C7410 A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas. NCIT:C7410|SNOMEDCT:363445000|MESH:D014625|DOID:119 http://purl.obolibrary.org/obo/MONDO_0001402 malignant vagina tumor|malignant neoplasm of the vagina|malignant neoplasm of vagina|malignant vaginal neoplasm|vagina neoplasm|malignant vaginal tumor|malignant vagina neoplasm|neoplasm of vagina|malignant tumor of vagina|vagina cancer|malignant tumor of the vagina|cancer of vagina|vaginal tumor gard_rare UBERON:0009030 left pulmonary vein biolink:AnatomicalEntity mondo Vein that drains left lung and returns blood to the heart. http://purl.obolibrary.org/obo/UBERON_0009030 MONDO:0001401 female breast nipple and areola cancer biolink:Disease mondo DOID:11889|UMLS:C0024621|SCTID:188147009|ICD9:174.0 UMLS:C0024621|DOID:11889|SNOMEDCT:188147009 http://purl.obolibrary.org/obo/MONDO_0001401 malignant neoplasm of nipple or areola of female breast|malignant neoplasm of nipple and areola of female breast HP:0012865 Sperm head anomaly biolink:PhenotypicFeature mondo UMLS:C4022702 A structural abnormality of the sperm head. http://purl.obolibrary.org/obo/HP_0012865 UBERON:0010020 tubotympanic recess epithelium biolink:AnatomicalEntity mondo The dorsal portion of the embryonic first endodermal pharyngeal pouch; it develops into the middle ear cavity. http://purl.obolibrary.org/obo/UBERON_0010020 tubotympanic recess UBERON:0036654 wall of lateral ventricle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036654 UBERON:0036657 wall of fourth ventricle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036657 UBERON:0010023 dorsal part of pharyngeal pouch 2 biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010023 dorsal elongation of second pouch endoderm|dorsal branchial pouch 2 endoderm|dorsal pharyngeal pouch 2 endoderm|dorsal pharyngeal pouch 2|dorsal 2nd branchial pouch UBERON:0036656 wall of third ventricle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036656 HGNC:7566 MYF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/7566 HGNC:7569 MYH11 biolink:OntologyClass mondo http://identifiers.org/hgnc/7569 UBERON:0009032 right pulmonary vein biolink:AnatomicalEntity mondo Vein that drains right lung and returns blood to the heart. http://purl.obolibrary.org/obo/UBERON_0009032 UBERON:0009035 renal straight tubule biolink:AnatomicalEntity mondo Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/UBERON_0009035 kidney straight tubule|straight tubule HGNC:7562 MYD88 biolink:OntologyClass mondo http://identifiers.org/hgnc/7562 MONDO:0001411 synostosis biolink:Disease mondo MESH:D013580|DOID:11971 A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. DOID:11971|MESH:D013580 http://purl.obolibrary.org/obo/MONDO_0001411 MONDO:0001410 postmenopausal atrophic vaginitis biolink:Disease mondo ICD10:N95.2|UMLS:C0221392|COHD:201078|EFO:1001271|SCTID:52441000|ICD9:627.3|UMLS:C0156409|DOID:11968|MESH:D059268 Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause. SNOMEDCT:52441000|UMLS:C0156409|UMLS:C0221392|MESH:D059268|DOID:11968 http://purl.obolibrary.org/obo/MONDO_0001410 senile vaginitis|atrophic vaginitis NCBITaxon:11079 Murray Valley encephalitis virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11079 MONDO:0001415 atrophy of testis biolink:Disease mondo ICD9:608.3|DOID:11994|NCIT:C123259|COHD:438477|ICD10:N50.0|UMLS:C0156312|SCTID:17585008 Loss of testicular volume. UMLS:C0156312|DOID:11994|SNOMEDCT:17585008|NCIT:C123259 http://purl.obolibrary.org/obo/MONDO_0001415 testicular atrophy MONDO:0001414 osteopoikilosis (disease) biolink:Disease mondo GARD:0004158|SCTID:9147009|ICD9:756.53|NCIT:C84985|DOID:11991|HP:0010739|MESH:D010023|ICD10:Q78.8 A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones. MESH:D010023|SNOMEDCT:9147009|DOID:11991|NCIT:C84985 http://purl.obolibrary.org/obo/MONDO_0001414 osteopathia condensans disseminata|spotted bones|osteopoikilosis gard_rare MONDO:0001413 ulceroglandular tularemia biolink:Disease mondo SCTID:37722001|ICD10:A21.0|DOID:11990|UMLS:C0152941|ICD9:021.0 A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion. SNOMEDCT:37722001|DOID:11990|UMLS:C0152941 http://purl.obolibrary.org/obo/MONDO_0001413 MONDO:0001412 conjunctival concretion biolink:Disease mondo COHD:381020|ICD9:372.54|ICD10:H11.12|SCTID:13706005|DOID:11988 SNOMEDCT:13706005|DOID:11988 http://purl.obolibrary.org/obo/MONDO_0001412 UBERON:0009020 left uterine horn biolink:AnatomicalEntity mondo An uterine horn that is in the left side of a uterus. http://purl.obolibrary.org/obo/UBERON_0009020 UBERON:0010011 collection of basal ganglia biolink:AnatomicalEntity mondo Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum. http://purl.obolibrary.org/obo/UBERON_0010011 subcortical nuclei|set of basal nuclei|basal nuclei (basal ganglia)|set of basal ganglia|basal ganglia set|basal nuclei|basal ganglia|cerebral nuclei UBERON:0036661 wall of ventricular system of brain biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036661 HGNC:7578 MYH8 biolink:OntologyClass mondo http://identifiers.org/hgnc/7578 UBERON:0036658 wall of central canal of spinal cord biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036658 wall of central canal HGNC:7577 MYH7 biolink:OntologyClass mondo http://identifiers.org/hgnc/7577 HGNC:14604 AMN biolink:OntologyClass mondo http://identifiers.org/hgnc/14604 HGNC:7579 MYH9 biolink:OntologyClass mondo http://identifiers.org/hgnc/7579 UBERON:0010009 aggregate regional part of brain biolink:AnatomicalEntity mondo A regional part of brain consisting of multiple brain regions that are not related through a simple volummetric part of hierarchy, e.g., basal ganglia[NIF]. http://purl.obolibrary.org/obo/UBERON_0010009 set of nuclei of neuraxis MONDO:0001408 ischemic neuropathy biolink:Disease mondo NCIT:C27025|ICD9:356.9|DOID:1195|SCTID:129611009|UMLS:C0238309 Neuropathy that is caused by inadequate blood supply. SNOMEDCT:129611009|NCIT:C27025|DOID:1195|UMLS:C0238309 http://purl.obolibrary.org/obo/MONDO_0001408 ischemic peripheral neuropathy MONDO:0001407 tracheal cancer biolink:Disease mondo SCTID:363432004|NCIT:C9346|ICD10:C33|COHD:4177112|DOID:11920|ICD9:162.0|UMLS:C0153489 A malignant neoplasm involving the trachea NCIT:C9346|SNOMEDCT:363432004|DOID:11920|UMLS:C0153489 http://purl.obolibrary.org/obo/MONDO_0001407 tracheal neoplasm|malignant tracheal tumor|malignant neoplasm of the trachea|Ca trachea|trachea cancer|malignant trachea tumor|malignant neoplasm of trachea|malignant tracheal neoplasm|malignant tumor of the trachea|malignant tumor of trachea|malignant trachea neoplasm|cancer of trachea UBERON:0009022 right uterine horn biolink:AnatomicalEntity mondo An uterine horn that is in the right side of a uterus. http://purl.obolibrary.org/obo/UBERON_0009022 NCBITaxon:11071 Japanese encephalitis virus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11071 Japanese encephalitis viruses NCBITaxon:11072 Japanese encephalitis virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11072 Japanese encephalitis (JE) virus|Japanese encephalitis virus JE|Japanese encephalitis virus JEV MONDO:0001406 peripheral nervous system neoplasm biolink:Disease mondo SCTID:126980002|ONCOTREE:PNS|NCIT:C3321|UMLS:C0031118|ICD9:239.2|DOID:1192|MESH:D010524 A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths. SNOMEDCT:126980002|MESH:D010524|DOID:1192|NCIT:C3321|UMLS:C0031118 http://purl.obolibrary.org/obo/MONDO_0001406 neoplasm of peripheral nerve|peripheral nervous system neoplasm|neoplasm of the PNS|neoplasms, PNS|CNS-excluded nervous sys. cancer|neoplasm of the peripheral nerve|neoplasm of PNS|peripheral nervous system neoplasm (disease)|peripheral nerve tumor|PNS tumor|CNS-excluded nervous system cancer, NOS|tumor of PNS|tumor of peripheral nervous system|nerve sheath neoplasm|PNS neoplasm|neoplasm of the peripheral nervous system|PNS neoplasms|neoplasms, peripheral nervous system|CNS-excluded nervous system cancer, NOS|peripheral nerve neoplasm|CNS-excluded nervous sys. cancer|tumor of the PNS|tumor of peripheral nerve|tumor of the peripheral nerve|tumor of the peripheral nervous system|neoplasm of peripheral nervous system|peripheral nervous system tumor|nerve sheath tumors HGNC:7572 MYH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7572 MONDO:0001405 dermatophytosis of groin and perianal area biolink:Disease mondo NCIT:C34535|ICD9:110.3|SCTID:399029005|UMLS:C0011638|DOID:11917 Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area. SNOMEDCT:399029005|NCIT:C34535|UMLS:C0011638|DOID:11917 http://purl.obolibrary.org/obo/MONDO_0001405 dermatophytosis of groin and perianal area|dermatophytosis of groin & perianal area|tinea cruris|Dhobie itch HGNC:7573 MYH3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7573 HGNC:7576 MYH6 biolink:OntologyClass mondo http://identifiers.org/hgnc/7576 UBERON:0009027 vesical artery biolink:AnatomicalEntity mondo An artery that supplies blood to the urinary bladder. http://purl.obolibrary.org/obo/UBERON_0009027 vesical arteries|arteria vesicali MONDO:0001409 esophagitis (disease) biolink:Disease mondo ICD10:K20.9|NCIT:C9224|UMLS:C0149882|SCTID:16761005|DOID:11963|ICD9:530.1|UMLS:C0014868|ICD10:K20|ICD9:530.12|ICD9:530.10|MESH:D004941|HP:0100633 An acute or chronic inflammatory disease affecting the esophageal wall. NCIT:C9224|UMLS:C0014868|SNOMEDCT:16761005|DOID:11963|UMLS:C0149882|MESH:D004941 http://purl.obolibrary.org/obo/MONDO_0001409 esophagus inflammation|esophagitis|acute esophagitis|inflammation of esophagus NCBITaxon:11077 Kunjin virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11077 West Nile virus - Kunjin HP:0000855 Insulin resistance biolink:PhenotypicFeature mondo MSH:D007333|SNOMEDCT_US:48606007|UMLS:C0021655 Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. http://purl.obolibrary.org/obo/HP_0000855 Body fails to respond to insulin UBERON:0010000 multicellular anatomical structure biolink:AnatomicalEntity mondo An anatomical structure that has more than one cell as a part. http://purl.obolibrary.org/obo/UBERON_0010000 multicellular structure HP:0000859 Hyperaldosteronism biolink:PhenotypicFeature mondo MSH:D006929|SNOMEDCT_US:88213004|UMLS:C0020428 Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. http://purl.obolibrary.org/obo/HP_0000859 Increased aldosterone|Mineralocorticoid excess|Elevated plasma aldosterone|Increased aldosterone production HP:0000858 Irregular menstruation biolink:PhenotypicFeature mondo SNOMEDCT_US:80182007|UMLS:C0156404 Abnormally high variation in the amount of time between periods. http://purl.obolibrary.org/obo/HP_0000858 Irregular menses|Menstrual irregularities|Menstrual irregularity UBERON:0010001 cell cluster organ biolink:AnatomicalEntity mondo A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. http://purl.obolibrary.org/obo/UBERON_0010001 HP:0000853 Goiter biolink:PhenotypicFeature mondo MSH:D006042|SNOMEDCT_US:3716002|UMLS:C0018021 An enlargement of the thyroid gland. http://purl.obolibrary.org/obo/HP_0000853 Goitre|Enlarged thyroid gland in neck|Thyroid goiter UBERON:0009010 periurethral tissue biolink:AnatomicalEntity mondo Any portion of tissue that surrounds a urethra. http://purl.obolibrary.org/obo/UBERON_0009010 HGNC:7583 MYL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7583 NCBITaxon:11040 Rubivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11040 HGNC:7582 MYL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7582 UBERON:0009014 lower back skin biolink:AnatomicalEntity mondo A zone of skin that is part of a lower back. http://purl.obolibrary.org/obo/UBERON_0009014 NCBITaxon:11041 Rubella virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11041 HGNC:7585 MYL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/7585 UBERON:0009015 upper back skin biolink:AnatomicalEntity mondo A zone of skin that is part of a dorsal thoracic segment of trunk. http://purl.obolibrary.org/obo/UBERON_0009015 HGNC:7584 MYL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7584 HGNC:7590 MYLK biolink:OntologyClass mondo http://identifiers.org/hgnc/7590 UBERON:0012651 mucosa of gastroduodenal junction biolink:AnatomicalEntity mondo A mucosa that is part of a gastroduodenal junction. http://purl.obolibrary.org/obo/UBERON_0012651 gastroduodenal mucosa UBERON:0012650 gastroduodenal junction biolink:AnatomicalEntity mondo A anatomical junction that connects a stomach and connects a duodenum. http://purl.obolibrary.org/obo/UBERON_0012650 UBERON:0012652 colorectum biolink:AnatomicalEntity mondo The subdivision of the digestive tract that consists of the colon and the rectum. http://purl.obolibrary.org/obo/UBERON_0012652 HGNC:7599 MYO1E biolink:OntologyClass mondo http://identifiers.org/hgnc/7599 HP:0000864 Abnormality of the hypothalamus-pituitary axis biolink:PhenotypicFeature mondo UMLS:C4025819 Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. http://purl.obolibrary.org/obo/HP_0000864 HGNC:7594 MYO15A biolink:OntologyClass mondo http://identifiers.org/hgnc/7594 NCBITaxon:11050 Flaviviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11050 Flavivirus (arbovirus group B) NCBITaxon:11051 Flavivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11051 arboviruses group B NCBITaxon:11052 Dengue virus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11052 Dengue viruses NCBITaxon:11053 Dengue virus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11053 dengue type 1 D1 virus|Dengue virus type 1|dengue virus type 1 DEN1|type 1 dengue virus DEN-1|dengue virus-1 DEN-1|dengue virus type I HGNC:7595 MYO1A biolink:OntologyClass mondo http://identifiers.org/hgnc/7595 MONDO:0001444 Chagas disease biolink:Disease mondo ICD10:B57.5|UMLS:C0153125|ICD10:B57.4|ICD10:B57.3|ICD10:B57.2|ICD10:B57.1|ICD10:B57.0|NCIT:C84629|UMLS:C0041234|DOID:12140|MESH:D014355|ICD9:086.2|EFO:0008559|SCTID:77506005|ICD10:B57|UMLS:C0348782|MedDRA:10001935|KEGG:05142|Orphanet:3386|UMLS:C0348781 A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. UMLS:C0348781|UMLS:C0348782|UMLS:C0153125|NCIT:C84629|ORPHA:3386|SNOMEDCT:77506005|MEDDRA:10001935|MESH:D014355|UMLS:C0041234|DOID:12140 http://purl.obolibrary.org/obo/MONDO_0001444 Chagas disease|infection by trypanosoma cruzi|American trypanosomiasis|Chagas' disease with other organ involvement|Chagas-mazza disease|Trypanosoma cruzi infectious disease|Chagas' disease with nervous system involvement|Trypanosoma cruzi caused disease or disorder|Chagas' disease|Chagas' disease with digestive system involvement|south American trypanosomiasis|infection caused by trypanosoma cruzi|Trypanosoma cruzi disease or disorder ordo_disease MONDO:0001443 tympanosclerosis biolink:Disease mondo ICD9:385.00|DOID:1214|MESH:D063371|ICD10:H74.0|COHD:378765|ICD9:385.09|SCTID:23606001 The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing. MESH:D063371|DOID:1214|SNOMEDCT:23606001 http://purl.obolibrary.org/obo/MONDO_0001443 MONDO:0001442 dysthymic disorder biolink:Disease mondo COHD:433440|SCTID:78667006|ICD10:F34.1|NCIT:C34562|ICD9:300.4|EFO:0008623|DOID:12139|MESH:D019263 A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression. SNOMEDCT:78667006|NCIT:C34562|MESH:D019263|DOID:12139 http://purl.obolibrary.org/obo/MONDO_0001442 dysthymia MONDO:0025412 feline panleukopenia biolink:Disease mondo UMLS:C0015765|MESH:D005254 A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus. UMLS:C0015765|MESH:D005254 http://purl.obolibrary.org/obo/MONDO_0025412 fevers, show|Feline agranulocytosis|plague, Cat|Feline ataxia|infectious enteritis, Feline|Panleukopenias, Feline|Cat plague|infectious Enteritides, Feline|distempers, Feline|ataxia, Feline|ataxias, Feline|agranulocytoses, Feline|Cat Plagues|enteritides, Feline infectious|distemper, Feline|fever, show|enteritis, Feline infectious|Panleukopenia, Feline|Feline Ataxias|Feline Agranulocytoses|agranulocytosis, Feline|Feline infectious enteritis|Feline infectious Enteritides|show fevers|Feline distemper|Feline Panleukopenias|plagues, Cat|Feline Distempers|show fever MONDO:0001441 pica disease biolink:Disease mondo NCIT:C92566|SCTID:14077003|ICD9:307.52|DOID:12128|MESH:D010842 An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development. SNOMEDCT:14077003|NCIT:C92566|DOID:12128|MESH:D010842 http://purl.obolibrary.org/obo/MONDO_0001441 Pica|Pica eating disorder UBERON:0010061 lumen of nasopharynx biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010061 nasopharynx cavity|nasopharynx lumen|nasopharyngeal luman MONDO:0001448 obsolete alveolar echinococcosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001448 MONDO:0001447 detrusor sphincter dyssynergia (disease) biolink:Disease mondo HP:0025488|UMLS:C0341747|DOID:12145|SCTID:236655005|ICD9:596.55 UMLS:C0341747|DOID:12145|SNOMEDCT:236655005 http://purl.obolibrary.org/obo/MONDO_0001447 detrusor sphincter dyssynergia UBERON:0010062 pharyngotympanic tube epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010062 auditory tube epithelium|eustachian tube epithelium MONDO:0025417 fowlpox biolink:Disease mondo MESH:D005586 A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts. MESH:D005586 http://purl.obolibrary.org/obo/MONDO_0025417 Bird pox|epithelioma contagiosum|Birdpox|Diphtherias, fowl|Variola avium|fowl Diphtherias|pox, fowl|fowl diphtheria|diphtheria, fowl|fowl pox|pox, Bird MONDO:0001446 low compliance bladder biolink:Disease mondo COHD:76153|DOID:12144|UMLS:C0489967|ICD9:596.52|SCTID:9009001 SNOMEDCT:9009001|UMLS:C0489967|DOID:12144 http://purl.obolibrary.org/obo/MONDO_0001446 hyperactivity of bladder|low bladder compliance|hypertonicity of bladder|hypertonic bladder MONDO:0001445 obsolete neurogenic bladder (disease) biolink:Disease mondo HP:0000011|DOID:12143|SCTID:398064005|MESH:D001750|UMLS:C0005697|ICD9:596.54 Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). UMLS:C0005697|NCIT:C79696|SNOMEDCT:398064005|MESH:D001750|DOID:12143 http://purl.obolibrary.org/obo/MONDO_0001445 neurogenic urinary bladder disorder|neuropathic bladder|neurogenic dysfunction of the urinary bladder|neurogenic bladder UBERON:0010060 pharyngeal opening of pharyngotympanic tube biolink:AnatomicalEntity mondo On the lateral wall of the nasal part of the pharynx is the pharyngeal opening of auditory tube (pharyngeal ostium), somewhat triangular in shape, and bounded behind by a firm prominence, the torus or cushion, caused by the medial end of the cartilage of the tube which elevates the mucous membrane. http://purl.obolibrary.org/obo/UBERON_0010060 pharyngeal opening of auditory tube|pharyngeal ostium of eustachian tube|ostium pharyngeum tubae auditivae|pharyngeal tubal ostium|pharyngeal orifice of auditory tube|pharyngeal ostium of pharyngotympanic tube|pharyngeal opening of eustachian tube|pharyngeal orifice of eustachian tube|ostium pharyngeum tubae auditoriae|pharyngeal ostium of auditory tube|pharyngeal ostium|pharyngeal orifice of pharyngotympanic tube|ostium pharyngeum tubae auditivae UBERON:0010065 auditory meatus epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010065 MONDO:0013428 Meier-Gorlin syndrome 2 biolink:Disease mondo UMLS:C3151097|OMIM:613800 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene. http://identifiers.org/omim/613800|UMLS:C3151097 http://purl.obolibrary.org/obo/MONDO_0013428 ORC4 Meier-Gorlin syndrome|MGORS2|Meier-GORLIN syndrome 2; MGORS2|Meier-Gorlin syndrome 2|Meier-Gorlin syndrome caused by mutation in ORC4|Meier-Gorlin syndrome type 2 UBERON:0010063 tympanic cavity epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010063 MONDO:0013429 retinitis pigmentosa 40 biolink:Disease mondo ICD10:H35.5|DOID:0110375|UMLS:C3151107|OMIM:613801 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene. DOID:0110375|http://identifiers.org/omim/613801|UMLS:C3151107 http://purl.obolibrary.org/obo/MONDO_0013429 RP40|retinitis pigmentosa caused by mutation in PDE6B|retinitis pigmentosa 40|retinitis pigmentosa 40; RP40|retinitis pigmentosa type 40|PDE6B retinitis pigmentosa UBERON:0010064 open anatomical space biolink:AnatomicalEntity mondo An anatomical space with at least one opening to another space or the exterior. http://purl.obolibrary.org/obo/UBERON_0010064 UBERON:0010069 outer epithelial layer of tympanic membrane biolink:AnatomicalEntity mondo A portion of the external acoustic meatus epithelium which makes up the outer (cuticular) layer of the tympanic membrane http://purl.obolibrary.org/obo/UBERON_0010069 cuticular layer of tympanic membrane|outer layer of tympanic membrane|outer cuticular layer of tympanic membrane|tympanic membrane external acoustic meatus epithelial component|cuticular stratum of tympanic membrane MONDO:0001440 neurotrophic keratoconjunctivitis biolink:Disease mondo ICD9:370.35|ICD10:H16.23|SCTID:77080005|UMLS:C0155084|COHD:381291|DOID:12125 SNOMEDCT:77080005|DOID:12125|UMLS:C0155084 http://purl.obolibrary.org/obo/MONDO_0001440 MONDO:0013433 primary sclerosing cholangitis biolink:Disease mondo MedDRA:10036732|Orphanet:171|ICD10:K83.0|DOID:0060643|SCTID:197441003|OMIM:613806|UMLS:C0566602|GARD:0001280 Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure. SNOMEDCT:197441003|http://identifiers.org/omim/613806|ORPHA:171|MEDDRA:10036732|MESH:C536419|UMLS:C0566602|DOID:0060643 http://purl.obolibrary.org/obo/MONDO_0013433 PSC|cholangitis, primary sclerosing; PSC|cholangitis, primary sclerosing ordo_disease MONDO:0013434 primary ciliary dyskinesia 14 biolink:Disease mondo OMIM:613807|UMLS:C3151136|ICD10:Q34.8|DOID:0110598 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene. UMLS:C3151136|http://identifiers.org/omim/613807|DOID:0110598 http://purl.obolibrary.org/obo/MONDO_0013434 CCDC39 primary ciliary dyskinesia|ciliary dyskinesia, primary, 14; CILD14|ciliary dyskinesia, primary, 14, with or without situs inversus|primary ciliary dyskinesia 14 with or without situs inversus|ciliary dyskinesia, primary, type 14|primary ciliary dyskinesia caused by mutation in CCDC39|CILD14|primary ciliary dyskinesia type 14|ciliary dyskinesia, primary, 14 MONDO:0013431 Meier-Gorlin syndrome 4 biolink:Disease mondo UMLS:C3151120|OMIM:613804 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene. http://identifiers.org/omim/613804|UMLS:C3151120 http://purl.obolibrary.org/obo/MONDO_0013431 CDT1 Meier-Gorlin syndrome|Meier-GORLIN syndrome 4; MGORS4|Meier-Gorlin syndrome 4|Meier-Gorlin syndrome type 4|MGORS4|Meier-Gorlin syndrome caused by mutation in CDT1 MONDO:0013432 Meier-Gorlin syndrome 5 biolink:Disease mondo OMIM:613805|UMLS:C3151126 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene. http://identifiers.org/omim/613805|UMLS:C3151126 http://purl.obolibrary.org/obo/MONDO_0013432 Meier-GORLIN syndrome 5; MGORS5|Meier-Gorlin syndrome caused by mutation in CDC6|Meier-Gorlin syndrome 5|MGORS5|Meier-Gorlin syndrome type 5|CDC6 Meier-Gorlin syndrome MONDO:0013437 retinitis pigmentosa 43 biolink:Disease mondo UMLS:C3151139|OMIM:613810|ICD10:H35.5|DOID:0110379 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene. http://identifiers.org/omim/613810|UMLS:C3151139|DOID:0110379 http://purl.obolibrary.org/obo/MONDO_0013437 retinitis pigmentosa caused by mutation in PDE6A|PDE6A retinitis pigmentosa|retinitis pigmentosa type 43|retinitis pigmentosa 43; RP43|RP43|retinitis pigmentosa 43 MONDO:0013438 pontocerebellar hypoplasia type 2D biolink:Disease mondo UMLS:C3151140|DOID:0060270|OMIM:613811|ICD10:Q04.3 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene. UMLS:C3151140|http://identifiers.org/omim/613811|DOID:0060270 http://purl.obolibrary.org/obo/MONDO_0013438 pontocerebellar hypoplasia, type 2D; PCH2D|cerebello-cerebral atrophy, progressive|Cerebellocerebral atrophy, progressive|SEPSECS non-syndromic pontocerebellar hypoplasia|PCH2D|pontocerebellar hypoplasia, type 2D|non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS MONDO:0013435 primary ciliary dyskinesia 15 biolink:Disease mondo UMLS:C3151137|DOID:0110623|OMIM:613808|ICD10:Q34.8 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene. http://identifiers.org/omim/613808|UMLS:C3151137|DOID:0110623 http://purl.obolibrary.org/obo/MONDO_0013435 ciliary dyskinesia, primary, 15; CILD15|ciliary dyskinesia, primary, 15, with or without situs inversus|CCDC40 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 15|primary ciliary dyskinesia caused by mutation in CCDC40|CILD15|primary ciliary dyskinesia type 15|primary ciliary dyskinesia 15 with or without situs inversus|ciliary dyskinesia, primary, 15 MONDO:0013436 retinitis pigmentosa 39 biolink:Disease mondo ICD10:H35.5|UMLS:C3151138|OMIM:613809|DOID:0110360 Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene. UMLS:C3151138|http://identifiers.org/omim/613809|DOID:0110360 http://purl.obolibrary.org/obo/MONDO_0013436 USH2A retinitis pigmentosa|retinitis pigmentosa caused by mutation in USH2A|retinitis pigmentosa 39; RP39|retinitis pigmentosa type 39|RP39|retinitis pigmentosa 39 MONDO:0001439 episcleritis periodica fugax biolink:Disease mondo UMLS:C0155351|ICD9:379.01|COHD:441032|DOID:12124|ICD10:H15.11|SCTID:31166000 DOID:12124|UMLS:C0155351|SNOMEDCT:31166000 http://purl.obolibrary.org/obo/MONDO_0001439 GO:1990837 sequence-specific double-stranded DNA binding biolink:OntologyClass mondo Interacting selectively and non-covalently with double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. http://purl.obolibrary.org/obo/GO_1990837 sequence-specific dsDNA binding MONDO:0001438 postinflammatory pulmonary fibrosis biolink:Disease mondo ICD10:J84.10|SCTID:266368002|UMLS:C0175999|DOID:12123|ICD9:515|COHD:253797 DOID:12123|SNOMEDCT:266368002|UMLS:C0175999 http://purl.obolibrary.org/obo/MONDO_0001438 post-inflammatory pulmonary fibrosis|postinflammatory pulmonary fibrosis MONDO:0013430 Meier-Gorlin syndrome 3 biolink:Disease mondo OMIM:613803|UMLS:C3151113 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene. http://identifiers.org/omim/613803|UMLS:C3151113 http://purl.obolibrary.org/obo/MONDO_0013430 Meier-Gorlin syndrome caused by mutation in ORC6|Meier-GORLIN syndrome 3; MGORS3|Meier-Gorlin syndrome 3|ORC6 Meier-Gorlin syndrome|Meier-Gorlin syndrome type 3|MGORS3 MONDO:0001455 retinal lattice degeneration biolink:Disease mondo SCTID:3577000|COHD:319016|UMLS:C0154856|DOID:12165|ICD9:362.63|ICD10:H35.41 UMLS:C0154856|DOID:12165|SNOMEDCT:3577000 http://purl.obolibrary.org/obo/MONDO_0001455 palisade degeneration of retina MONDO:0001454 Blessig's cysts biolink:Disease mondo DOID:12164|UMLS:C0154855|ICD9:362.62|SCTID:37075008|ICD10:H35.42 UMLS:C0154855|SNOMEDCT:37075008|DOID:12164 http://purl.obolibrary.org/obo/MONDO_0001454 Microcystoid retinal degeneration|Iwanoff's cysts|Blessig cysts|Microcystoid degeneration of retina MONDO:0001453 senile reticular retinal degeneration biolink:Disease mondo UMLS:C0154857|ICD9:362.64|DOID:12163|SCTID:54184008 UMLS:C0154857|SNOMEDCT:54184008|DOID:12163 http://purl.obolibrary.org/obo/MONDO_0001453 Senile reticular degeneration of retina MONDO:0001452 pseudoretinitis pigmentosa biolink:Disease mondo UMLS:C0154858|ICD9:362.65|DOID:12162|SCTID:193396007|ICD10:H35.45|UMLS:C2053820 SNOMEDCT:193396007|DOID:12162|UMLS:C2053820|UMLS:C0154858 http://purl.obolibrary.org/obo/MONDO_0001452 secondary pigmentary degeneration of retina|secondary pigmentary retinal degeneration MONDO:0025404 coronaviral enteritis of turkeys biolink:Disease mondo MESH:D004753|UMLS:C0014342 An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus. MESH:D004753|UMLS:C0014342 http://purl.obolibrary.org/obo/MONDO_0025404 Bluecomb of turkeys|coronaviral enteritis of turkeys|transmissible enteritis of turkeys|enteritis, transmissible, of turkeys MONDO:0001459 radial neuropathy biolink:Disease mondo UMLS:C0748226|MESH:D020425|DOID:12171|SCTID:16644004 Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus. MESH:D020425|SNOMEDCT:16644004|UMLS:C0748226|DOID:12171 http://purl.obolibrary.org/obo/MONDO_0001459 radial nerve peripheral neuropathy|peripheral neuropathy of radial nerve MONDO:0001458 ulnar nerve lesion biolink:Disease mondo ICD10:G56.20|DOID:12168|SCTID:367475009|ICD9:354.2|UMLS:C1288279|COHD:374027|ICD10:G56.2 A peripheral nerve lesion that involves the ulnar nerve. SNOMEDCT:367475009|UMLS:C1288279|DOID:12168 http://purl.obolibrary.org/obo/MONDO_0001458 ulnar nerve peripheral nerve lesion|peripheral nerve lesion of ulnar nerve|lesion of ulnar nerve MONDO:0001457 secondary vitreoretinal degeneration biolink:Disease mondo SCTID:60676002|DOID:12167|ICD9:362.66|ICD10:H35.46|UMLS:C0154859 UMLS:C0154859|DOID:12167|SNOMEDCT:60676002 http://purl.obolibrary.org/obo/MONDO_0001457 MONDO:0001456 cobblestone retinal degeneration biolink:Disease mondo DOID:12166|UMLS:C0154854|SCTID:69134001|ICD9:362.61|COHD:438748|ICD10:H35.43 UMLS:C0154854|SNOMEDCT:69134001|DOID:12166 http://purl.obolibrary.org/obo/MONDO_0001456 paving stone degeneration of retina|paving stone retinal degeneration MONDO:0013419 complement component C1s deficiency biolink:Disease mondo OMIM:613783|MESH:C565170|UMLS:C3151078 A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. UMLS:C3151078|http://identifiers.org/omim/613783|MESH:C565170 http://purl.obolibrary.org/obo/MONDO_0013419 C1s deficiency|complement component C1s deficiency|C1SD|complement component C1s deficiency; C1SD MONDO:0013417 complement component 3 deficiency biolink:Disease mondo NCIT:C9468|UMLS:C1332655|DOID:8354|OMIM:613779|Orphanet:280133|MESH:C565169|ICD10:D84.1|UMLS:C3151071 A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease. ORPHA:280133|DOID:8354|UMLS:C3151071|http://identifiers.org/omim/613779|NCIT:C9468|UMLS:C1332655|MESH:C565169 http://purl.obolibrary.org/obo/MONDO_0013417 complement component 3 deficiency, autosomal recessive; C3d|C3 deficiency|complement component 3 deficiency, autosomal recessive|C3 deficiency, autosomal recessive|classic complement early component deficiency caused by mutation in C3|C3d|C3 classic complement early component deficiency ordo_disease UBERON:0010052 mucosa of dorsum of tongue biolink:AnatomicalEntity mondo A mucosa that is part of a dorsum of tongue. http://purl.obolibrary.org/obo/UBERON_0010052 mucosa of dorsal surface of tongue MONDO:0013418 aortic aneurysm, familial thoracic 7 biolink:Disease mondo OMIM:613780|UMLS:C3151077 http://identifiers.org/omim/613780|UMLS:C3151077 http://purl.obolibrary.org/obo/MONDO_0013418 aortic aneurysm, familial thoracic type 7|aortic aneurysm, familial thoracic 7; AAT7|AAT7|aortic dissection, familial, with or without aortic aneurysm|aortic aneurysm, familial thoracic 7 MONDO:0001451 peripheral retinal degeneration biolink:Disease mondo DOID:12161|ICD9:362.60|ICD10:H35.4|SCTID:405721006|UMLS:C1320640|ICD10:H35.40|ICD9:362.6|NCIT:C34919|COHD:437267 Degeneration of the peripheral retina. UMLS:C1320640|NCIT:C34919|DOID:12161|SNOMEDCT:405721006 http://purl.obolibrary.org/obo/MONDO_0001451 peripheral degeneration of retina|peripheral retinal Degeneration MONDO:0001450 obsolete arachnoiditis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001450 UBERON:0010059 hypoglossal cord biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010059 UBERON:0010056 future tongue biolink:AnatomicalEntity mondo A compound organ that has the potential to develop into a tongue. http://purl.obolibrary.org/obo/UBERON_0010056 MONDO:0013422 type I complement component 8 deficiency biolink:Disease mondo HGNC:1352|GARD:0010626|DOID:0060301|ICD10:D84.1|UMLS:C3151081|OMIM:613790 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene. http://identifiers.org/omim/613790|UMLS:C3151081|DOID:0060301 http://purl.obolibrary.org/obo/MONDO_0013422 classic complement early component deficiency caused by mutation in C8A|complement component 8 deficiency type I|C8 deficiency, type 1|C8D1|C8 deficiency type I|complement component 8 deficiency, type I|C8A classic complement early component deficiency|C81 deficiency|C8Ag deficiency|complement component 8 deficiency type 1|complement component 8 deficiency, type 1|C8 Alpha-gamma deficiency|complement component 8 deficiency, type I; C8D1 gard_rare ENVO:03000033 marine sediment biolink:OntologyClass mondo Sediment which has been transported through the marine water column, settling on the seafloor. http://purl.obolibrary.org/obo/ENVO_03000033 marine sediments MONDO:0013423 immunodeficiency due to MASP-2 deficiency biolink:Disease mondo MESH:C565360|ICD10:D84.1|UMLS:C3151085|OMIM:613791|Orphanet:331187 Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. http://identifiers.org/omim/613791|UMLS:C3151085|MESH:C565360|ORPHA:331187 http://purl.obolibrary.org/obo/MONDO_0013423 MASP2 deficiency|lectin complement activation pathway, defect in, 2 ordo_disease MONDO:0013420 age related macular degeneration 12 biolink:Disease mondo DOID:0110024|UMLS:C3151079|OMIM:613784 Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene. UMLS:C3151079|http://identifiers.org/omim/613784|DOID:0110024 http://purl.obolibrary.org/obo/MONDO_0013420 age-related macular degeneration caused by mutation in CX3CR1|ARMD12|macular degeneration, age-related, 12; ARMD12|macular degeneration, age-related, 12|macular Degeneration, age-related, type 12|CX3CR1 age-related macular degeneration|age related macular degeneration type 12 ENVO:03000036 sedimentation in a water body biolink:OntologyClass mondo A material accumulation process during which solid particles are pulled through a water body by gravitation or centrifugal force and which ends when they settle on a solid surface. http://purl.obolibrary.org/obo/ENVO_03000036 MONDO:0013421 type II complement component 8 deficiency biolink:Disease mondo OMIM:613789|GARD:0010625|UMLS:C3151080|DOID:0060302|ICD10:D84.1|HGNC:1353 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene. http://identifiers.org/omim/613789|UMLS:C3151080|DOID:0060302 http://purl.obolibrary.org/obo/MONDO_0013421 classic complement early component deficiency caused by mutation in C8B|Human complement C8-beta deficiency|C8 deficiency, type 2|complement component 8B deficiency|complement component 8 deficiency type II|complement component 8 deficiency, type II|C8 Beta deficiency|complement component 8 deficiency, type 2|complement component 8 deficiency, type II; C8D2|C8B deficiency|C8B classic complement early component deficiency|complement component 8 deficiency type 2|C8D2|C8 deficiency type II gard_rare MONDO:0013426 aneurysm-osteoarthritis syndrome biolink:Disease mondo DOID:0070237|OMIM:613795|Orphanet:284984|GARD:0010997|UMLS:C3151087 DOID:0070237|http://identifiers.org/omim/613795|UMLS:C3151087|ORPHA:284984 http://purl.obolibrary.org/obo/MONDO_0013426 aneurysms-osteoarthritis syndrome|Loeys-Dietz syndrome with osteoarthritis|aneurysm - osteoarthritis syndrome|Loeys-Dietz syndrome 3; LDS3|Loeys-Dietz syndrome, type 1C, formerly|Loeys-Dietz syndrome, type 1C|Loeys-Dietz syndrome 3|Loeys-Dietz syndrome type 3|Loeys-Dietz syndrome, type 3|Loeys-Dietz syndrome, type 1C (formerly)|LDS3 clingen|ordo_disease MONDO:0013427 immunodeficiency 31B biolink:Disease mondo ICD10:D84.8|OMIM:613796|Orphanet:391311|UMLS:C3151088 UMLS:C3151088|http://identifiers.org/omim/613796|ORPHA:391311 http://purl.obolibrary.org/obo/MONDO_0013427 immunodeficiency 31B; IMD31B|susceptibility to viral and mycobacterial infections|immunodeficiency type 31B|Stat1 deficiency, autosomal recessive|IMD31B|immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive|STAT1 deficiency|immunodeficiency 31B ordo_disease MONDO:0013424 3p- syndrome biolink:Disease mondo Orphanet:1620|SCTID:763528002|OMIM:613792|NCIT:C41377|DOID:0060417|GARD:0003750|MESH:C536804|GARD:0000037|ICD10:Q93.5 Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. DOID:0060417|NCIT:C41377|http://identifiers.org/omim/613792|ORPHA:1620|SNOMEDCT:763528002|MESH:C536804 http://purl.obolibrary.org/obo/MONDO_0013424 monosomy 3pter|partial monosomy 3p|distal monosomy 3p|monosomy 3p|3p deletion|deletion 3p|3p- syndrome|3p monosomy|chromosome 3p- syndrome|chromosome 3, monosomy 3p25|del(3p25)|chromosome 3p deletion|distal monosomy type 3p|Del(3p) syndrome|distal 3p deletion|deletion 3p25|telomeric monosomy 3p|chromosome 3pter-p25 deletion syndrome ordo_malformation_syndrome|gard_rare MONDO:0013425 retinitis pigmentosa 20 biolink:Disease mondo ICD10:H35.5|MESH:C566718|OMIM:613794|DOID:0110353|GARD:0010404|HGNC:10294|UMLS:C3151086 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene. UMLS:C3151086|http://identifiers.org/omim/613794|MESH:C566718|DOID:0110353 http://purl.obolibrary.org/obo/MONDO_0013425 RP20|retinitis pigmentosa caused by mutation in RPE65|retinitis pigmentosa 20; RP20|RP 20|retinitis pigmentosa 20|retinitis pigmentosa type 20|RPE65 retinitis pigmentosa gard_rare MONDO:0001449 lymphocytic choriomeningitis biolink:Disease mondo MESH:D008216|COHD:434860|ICD10:A87.2|DOID:12155|ICD9:049.0|UMLS:C0024266 A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) MESH:D008216|UMLS:C0024266|DOID:12155 http://purl.obolibrary.org/obo/MONDO_0001449 lymphocytic choriomeningitis virus encephalomyelitis|lymphocytic choriomeningitis mammarenavirus caused infectious meningitis|lymphocytic meningitis|lymphocytic choriomeningitis mammarenavirus infectious meningitis|LCM|lymphocytic meningoencephalitis NCBITaxon:11089 Yellow fever virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11089 YFV|Flavivirus febricis|yellow fever virus YFV MONDO:0001422 primary aldosteronism biolink:Disease mondo DOID:12028|ICD10:E26.01|COHD:434000|ICD10:E26.0|NCIT:C34510|SCTID:190507007|ICD9:255.12 An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. SNOMEDCT:190507007|NCIT:C34510|DOID:12028 http://purl.obolibrary.org/obo/MONDO_0001422 Conn's syndrome|primary aldosteronism|Conn syndrome|primary hyperaldosteronism NCBITaxon:3744 Rosales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_3744 MONDO:0001421 frontal lobe neoplasm biolink:Disease mondo UMLS:C1263886|DOID:12016|ICD9:191.1|ICD10:C71.1|SCTID:126954003|NCIT:C5572 A neoplasm involving a frontal lobe. UMLS:C1263886|NCIT:C5572|SNOMEDCT:126954003|DOID:12016 http://purl.obolibrary.org/obo/MONDO_0001421 malignant neoplasm of frontal lobe|tumor of the frontal lobe|neoplasm of frontal lobe|frontal lobe tumor|neoplasm of the frontal lobe|tumor of frontal lobe|frontal lobe neoplasm (disease) MONDO:0001420 trigeminal nerve neoplasm biolink:Disease mondo SCTID:126971002|UMLS:C1263897|NCIT:C5122|ICD9:239.7|DOID:1201 Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure. NCIT:C5122|DOID:1201|UMLS:C1263897|SNOMEDCT:126971002 http://purl.obolibrary.org/obo/MONDO_0001420 fifth cranial nerve neoplasm|neoplasm of the trigeminal nerve|cranial nerve V tumors|neoplasm of the fifth cranial nerve|trigeminal nerve neoplasms|neoplasm of fifth cranial nerve|trigeminal nerve neoplasm|fifth cranial nerve tumor|neoplasm of trigeminal nerve|neoplasms, cranial nerve V|trigeminal nerve tumor|tumor of trigeminal nerve|trigeminal nerve tumors|trigeminal nerve neoplasm (disease)|tumor of the trigeminal nerve|cranial nerve V neoplasms|tumor of the fifth cranial nerve|tumor of fifth cranial nerve|tumors, cranial nerve V NCBITaxon:3745 Rosaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_3745 Malaceae|rose family MONDO:0001426 mediastinum neurofibroma biolink:Disease mondo NCIT:C6631|UMLS:C1334674|DOID:12064 A neurofibroma that arises from the posterior mediastinum. Excision is usually curative. DOID:12064|NCIT:C6631|UMLS:C1334674 http://purl.obolibrary.org/obo/MONDO_0001426 mediastinal neurofibroma|mediastinum neurofibroma|neurofibroma of mediastinum|neurofibroma of the mediastinum MONDO:0001425 obsolete Rett syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001425 MONDO:0001424 sarcoid meningitis biolink:Disease mondo ICD10:D86.81|SCTID:192673008|ICD9:321.4|UMLS:C0154648|DOID:12055|COHD:440699 Meningitis that arises from sarcoidosis. DOID:12055|UMLS:C0154648|SNOMEDCT:192673008 http://purl.obolibrary.org/obo/MONDO_0001424 meningitis in sarcoidosis MONDO:0001423 drug-induced mental disorder biolink:Disease mondo ICD9:292.89|ICD9:292.8|DOID:1203 DOID:1203 http://purl.obolibrary.org/obo/MONDO_0001423 MONDO:0013408 FADD-related immunodeficiency biolink:Disease mondo UMLS:C4509831|OMIM:613759|Orphanet:306550|SCTID:723334006|UMLS:C3151062 A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. SNOMEDCT:723334006|UMLS:C4509831|ORPHA:306550|http://identifiers.org/omim/613759|UMLS:C3151062 http://purl.obolibrary.org/obo/MONDO_0013408 Fadd deficiency|infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations ordo_disease MONDO:0013409 age related macular degeneration 5 biolink:Disease mondo OMIM:613761|UMLS:C3151063|DOID:0110028 Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene. DOID:0110028|http://identifiers.org/omim/613761|UMLS:C3151063 http://purl.obolibrary.org/obo/MONDO_0013409 macular degeneration, age-related, 5|ARMD5|macular Degeneration, age-related, type 5|age related macular degeneration type 5|macular degeneration, age-related, 5; ARMD5|ERCC6 age-related macular degeneration|age-related macular degeneration caused by mutation in ERCC6 MONDO:0013406 age related macular degeneration 6 biolink:Disease mondo DOID:0110018|OMIM:613757|UMLS:C3151060|MESH:C563674 Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene. DOID:0110018|MESH:C563674|http://identifiers.org/omim/613757|UMLS:C3151060 http://purl.obolibrary.org/obo/MONDO_0013406 age related macular degeneration type 6|age-related macular degeneration caused by mutation in RAX2|macular degeneration, age-related, 6|RAX2 age-related macular degeneration|ARMD6|macular Degeneration, age-related, type 6|macular degeneration, age-related, 6; ARMD6 UBERON:0010042 1st arch mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a pharyngeal arch 1. http://purl.obolibrary.org/obo/UBERON_0010042 mesenchyme of 1st arch MONDO:0013407 retinitis pigmentosa 47 biolink:Disease mondo DOID:0110369|OMIM:613758|UMLS:C3151061|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene. DOID:0110369|UMLS:C3151061|http://identifiers.org/omim/613758 http://purl.obolibrary.org/obo/MONDO_0013407 retinitis pigmentosa 47|RP47|SAG retinitis pigmentosa|retinitis pigmentosa type 47|retinitis pigmentosa caused by mutation in SAG|retinitis pigmentosa 47; RP47 UBERON:0010047 oral gland biolink:AnatomicalEntity mondo Gland of the epithelium lining the oral cavity. The most common are the salivary glands. http://purl.obolibrary.org/obo/UBERON_0010047 gland of oral region|oral cavity gland|buccal gland|mouth gland|oral region gland|gland of oral opening ENVO:03000043 material transformation process biolink:OntologyClass mondo A process during which a portion of some environmental material is converted into a different material or a collection of materials. http://purl.obolibrary.org/obo/ENVO_03000043 UBERON:0010045 1st arch maxillary mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a 1st arch maxillary component. http://purl.obolibrary.org/obo/UBERON_0010045 maxillary component mesenchyme|maxillary mesenchyme|mesenchyme of maxillary component UBERON:0010046 entire pharyngeal arch associated mesenchyme biolink:AnatomicalEntity mondo The sum total of mesenchymal tissue in the pharyngeal arch region. Pharyngeal mesenchyme is undifferentiated, loose connective tissue derived mostly from mesoderm, and also contains ectodermally derived neural crest cells. http://purl.obolibrary.org/obo/UBERON_0010046 entire branchial arch associated mesenchyme|associated mesenchyme of pharyngeal region|pharyngeal arch associated mesenchyme NCBITaxon:3749 Malus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_3749 MONDO:0013411 cataract 16 multiple types biolink:Disease mondo OMIM:613763|DOID:0110250|MESH:C565134|ICD10:Q12.0 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene. http://identifiers.org/omim/613763|MESH:C565134|DOID:0110250 http://purl.obolibrary.org/obo/MONDO_0013411 cataract 16, multiple types|cataract, posterior polar, 2|CTPP2|early-onset non-syndromic cataract caused by mutation in CRYAB|CRYAB early-onset non-syndromic cataract|cataract, congenital lamellar|cataract 16, multiple types; CTRCT16|CTRCT16|posterior polar cataract 2 MONDO:0013412 hypertrophic cardiomyopathy 9 biolink:Disease mondo MESH:C566044|UMLS:C1861065|OMIM:613765|DOID:0110315 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. UMLS:C1861065|http://identifiers.org/omim/613765|MESH:C566044|DOID:0110315 http://purl.obolibrary.org/obo/MONDO_0013412 TTN hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 9|hypertrophic cardiomyopathy type 9|hypertrophic cardiomyopathy caused by mutation in TTN|cardiomyopathy, familial hypertrophic, type 9|CMH9|cardiomyopathy, familial hypertrophic, 9; CMH9 UBERON:0010038 fundic gastric gland biolink:AnatomicalEntity mondo The fundus glands (or fundic glands, or gastric glands) are found in the body and fundus of the stomach. They are simple tubes, two or more of which open into a single duct. http://purl.obolibrary.org/obo/UBERON_0010038 fundus gland|gastric fundus gland|fundal gland|gastric fundal gland|gastric gland of fundus of stomach|glandulae gastricae MONDO:0013410 46,XY sex reversal 6 biolink:Disease mondo UMLS:C3151064|OMIM:613762 http://identifiers.org/omim/613762|UMLS:C3151064 http://purl.obolibrary.org/obo/MONDO_0013410 SRXY6|46,XY SEX reversal 6; SRXY6|46,XY Sex reversal type 6|46,XY gonadal dysgenesis, partial or complete, Map3K1-related|46,XY Sex reversal, partial or complete, Map3K1-related|46,XY sex reversal 6 UBERON:0010039 food storage organ biolink:AnatomicalEntity mondo An organ of the digestive tract that is capable of retaining and storing food http://purl.obolibrary.org/obo/UBERON_0010039 MONDO:0013415 chromosome 17p13.1 deletion syndrome biolink:Disease mondo OMIM:613776|GARD:0010996|DOID:0060402|UMLS:C3151069 DOID:0060402|UMLS:C3151069|http://identifiers.org/omim/613776 http://purl.obolibrary.org/obo/MONDO_0013415 chromosome 17p13.1 deletion syndrome|17p13.1 deletion syndrome MONDO:0013416 age related macular degeneration 8 biolink:Disease mondo OMIM:613778|UMLS:C3151070|DOID:0110020 Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene. http://identifiers.org/omim/613778|UMLS:C3151070|DOID:0110020 http://purl.obolibrary.org/obo/MONDO_0013416 macular degeneration, age-related, 8|macular Degeneration, age-related, type 8|age-related macular degeneration caused by mutation in ARMS2|ARMS2 age-related macular degeneration|age related macular degeneration type 8|macular degeneration, age-related, 8; ARMD8|ARMD8 MONDO:0013413 retinitis pigmentosa 45 biolink:Disease mondo DOID:0110402|UMLS:C3151066|OMIM:613767|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene. UMLS:C3151066|http://identifiers.org/omim/613767|DOID:0110402 http://purl.obolibrary.org/obo/MONDO_0013413 retinitis pigmentosa caused by mutation in CNGB1|CNGB1 retinitis pigmentosa|retinitis pigmentosa type 45|RP45|retinitis pigmentosa 45; RP45|retinitis pigmentosa 45 MONDO:0013414 retinitis pigmentosa 44 biolink:Disease mondo UMLS:C3151068|ICD10:H35.5|DOID:0110394|OMIM:613769 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene. DOID:0110394|http://identifiers.org/omim/613769|UMLS:C3151068 http://purl.obolibrary.org/obo/MONDO_0013414 retinitis pigmentosa 44|retinitis pigmentosa type 44|retinitis pigmentosa caused by mutation in RGR|RGR retinitis pigmentosa|retinitis pigmentosa 44; RP44|RP44 NCBITaxon:11080 Saint Louis encephalitis virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11080 St. Louis encephalitis virus MONDO:0001419 trachea squamous cell carcinoma biolink:Disease mondo NCIT:C4448|SCTID:254620000|DOID:12003|EFO:1000600|UMLS:C0345946 A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor. UMLS:C0345946|DOID:12003|SNOMEDCT:254620000|NCIT:C4448 http://purl.obolibrary.org/obo/MONDO_0001419 epidermoid carcinoma of the trachea|epidermoid carcinoma of trachea|squamous cell carcinoma of trachea|trachea epidermoid carcinoma|squamous cell carcinoma of the trachea|trachea squamous cell carcinoma|tracheal epidermoid carcinoma|tracheal squamous cell carcinoma HP:0012888 Abnormality of the uterine cervix biolink:PhenotypicFeature mondo UMLS:C4022694 An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. http://purl.obolibrary.org/obo/HP_0012888 MONDO:0001418 trachea sarcoma biolink:Disease mondo UMLS:C1336774|DOID:12002|NCIT:C6050 A rare malignant soft tissue neoplasm that arises from the trachea. DOID:12002|NCIT:C6050|UMLS:C1336774 http://purl.obolibrary.org/obo/MONDO_0001418 tracheal sarcoma|sarcoma of trachea|trachea sarcoma|sarcoma of the trachea NCBITaxon:11082 West Nile virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11082 WNV MONDO:0001417 tracheal lymphoma biolink:Disease mondo NCIT:C6248|DOID:12001|UMLS:C1336773 A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor. DOID:12001|NCIT:C6248|UMLS:C1336773 http://purl.obolibrary.org/obo/MONDO_0001417 lymphoma of the trachea|lymphoma of trachea|primary tracheal lymphoma|tracheal lymphoma|trachea lymphoma NCBITaxon:11083 Powassan virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11083 Flavivirus powassan MONDO:0001416 female reproductive organ cancer biolink:Disease mondo ICD10:C51.C58|ICD10:C57|ICD9:184|NCIT:C4913|DOID:120|SCTID:126907002 A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma. NCIT:C4913|SNOMEDCT:126907002|DOID:120 http://purl.obolibrary.org/obo/MONDO_0001416 malignant female reproductive organ neoplasm|malignant gynecologic tumor|malignant neoplasm of female genital organ|malignant neoplasm of female reproductive organ|gynecologic cancer|malignant female reproductive system neoplasm|malignant tumor of female reproductive system|female reproductive system cancer, NOS|female reprod. system cancer, NOS|malignant tumor of the female reproductive system|female reproductive cancer|female reproductive organ cancer|malignant neoplasm of female reproductive system|malignant female reproductive system tumor|malignant gynecologic neoplasm|malignant neoplasm of the female reproductive system|cancer of female reproductive organ NCBITaxon:11084 Tick-borne encephalitis virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11084 TBEV|tick-borne encephalitis virus TBEV|FSME virus NCBITaxon:11086 Louping ill virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11086 LI MONDO:0001433 vaginal disease biolink:Disease mondo DOID:121|MESH:D014623|UMLS:C0042251|NCIT:C26910|SCTID:25658005 A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma. NCIT:C26910|SNOMEDCT:25658005|MESH:D014623|UMLS:C0042251|DOID:121 http://purl.obolibrary.org/obo/MONDO_0001433 vaginal disorder|vagina disease or disorder|disorder of vagina|disease of vagina|disease or disorder of vagina|disorder of vagina|vagina disease|vaginal disease NCBITaxon:3754 Prunus organism taxon mondo PMID:24631854|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus subg. Amygdalus|Prunus subg. Cerasus|Prunus subg. Armeniaca MONDO:0001432 obsolete sodoku disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001432 MONDO:0001431 toxic or nutritional optic neuropathy biolink:Disease mondo SCTID:82108004|DOID:1209|ICD10:H46.2|UMLS:C0155302|ICD9:377.33 A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency. SNOMEDCT:82108004|UMLS:C0155302|DOID:1209 http://purl.obolibrary.org/obo/MONDO_0001431 nutritional optic neuropathy|nutritional optic neuropathy MONDO:0001430 deep corneal vascularisation biolink:Disease mondo ICD10:H16.44|UMLS:C0155095|ICD9:370.63|DOID:12087|SCTID:2102007 UMLS:C0155095|DOID:12087|SNOMEDCT:2102007 http://purl.obolibrary.org/obo/MONDO_0001430 deep vascularization of cornea MONDO:0001437 pulmonary alveolar proteinosis biolink:Disease mondo SCTID:10501004|COHD:435853|UMLS:C0034050|MESH:D011649|DOID:12120|NCIT:C85037|ICD10:J84.01|Reactome:R-HSA-5683826|ICD9:516.0 A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever. DOID:12120|MESH:D011649|NCIT:C85037|UMLS:C0034050|SNOMEDCT:10501004 http://purl.obolibrary.org/obo/MONDO_0001437 pulmonary alveolar proteinosis|PAP MONDO:0001436 hemosiderosis biolink:Disease mondo NCIT:C82892|GARD:0006595|UMLS:C0019114|MESH:D006486|SCTID:39011001|DOID:12119 Accumulation of iron in internal organs. MESH:D006486|SNOMEDCT:39011001|NCIT:C82892|UMLS:C0019114|DOID:12119 http://purl.obolibrary.org/obo/MONDO_0001436 haemosiderosis gard_rare NCBITaxon:3750 Malus domestica organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_3750 Malus x domestica|apple tree|cultivated apple|Pyrus malus|Malus pumila var. domestica|Malus sylvestris var. domestica|Malus pumila auct.|Malus communis|apple HP:0012874 Abnormal male reproductive system physiology biolink:PhenotypicFeature mondo UMLS:C4020716 An abnormal functionality of the male genital system. http://purl.obolibrary.org/obo/HP_0012874 Abnormal male genital system physiology MONDO:0001435 bullous retinoschisis biolink:Disease mondo UMLS:C0344289|SCTID:65545003|COHD:381288|DOID:12108|ICD9:361.12 SNOMEDCT:65545003|UMLS:C0344289|DOID:12108 http://purl.obolibrary.org/obo/MONDO_0001435 MONDO:0001434 inflammatory spondylopathy biolink:Disease mondo SCTID:202649003|DOID:12105|COHD:133295|ICD9:720.9|ICD9:720.89|ICD9:720.81 SNOMEDCT:202649003|DOID:12105 http://purl.obolibrary.org/obo/MONDO_0001434 inflammatory spondylopathies in disease classified elsewhere|inflammatory spondylopathies in disease EC|inflammatory spondylopathy in disease classified elsewhere UBERON:0009042 prostatic venous plexus biolink:AnatomicalEntity mondo The prostatic veins form a well-marked prostatic plexus which lies partly in the fascial sheath of the prostate and partly between the sheath and the prostatic capsule. It communicates with the pudendal and vesical plexuses. http://purl.obolibrary.org/obo/UBERON_0009042 plexus venosus prostaticus|pudendal venous plexus UBERON:0010032 anterior part of tongue biolink:AnatomicalEntity mondo The portion of the tongue in front of the terminal sulcus. At the apex, thin and narrow, it is directed forward against the lingual surfaces of the lower incisor teeth. It is derived primarily from the first pharyngeal arch. http://purl.obolibrary.org/obo/UBERON_0010032 apex of the tongue|anterior 2/3 of tongue|anterior 2/3 of the tongue|pars anterior dorsi linguae|apex linguae|front of the tongue|anterior two thirds of the tongue|oral part of the tongue|buccal part of the tongue UBERON:0010031 6th arch mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a pharyngeal arch 6. http://purl.obolibrary.org/obo/UBERON_0010031 6th pharyngeal arch mesenchyme|pharyngeal arch 6 mesenchyme|6th branchial arch mesenchyme NCBITaxon:3758 Prunus domestica organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_3758 plum MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency biolink:Disease mondo UMLS:C3151055|Orphanet:168558|OMIM:613743|MESH:C566130|NCIT:C131422|ICD10:Q56.1|DOID:0050546 CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis. NCIT:C131422|ORPHA:168558|http://identifiers.org/omim/613743|MESH:C566130|UMLS:C3151055|DOID:0050546 http://purl.obolibrary.org/obo/MONDO_0013400 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|cholesterol side-chain Cleavage deficiency|XY sex reversal-adrenal failure syndrome|p450scc deficiency|XY sex reversal-adrenal failure|adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome ordo_disease MONDO:0013401 hereditary spastic paraplegia 51 biolink:Disease mondo UMLS:C3151056|OMIM:613744|GARD:0010999|DOID:0110803 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene. DOID:0110803|UMLS:C3151056|http://identifiers.org/omim/613744 http://purl.obolibrary.org/obo/MONDO_0013401 cerebral palsy, spastic quadriplegic, 4, formerly|AP4E1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 4|CPSQ4|spastic quadriplegic cerebral palsy 4|spastic paraplegia 51, autosomal recessive|hereditary spastic paraplegia type 51|hereditary spastic paraplegia caused by mutation in AP4E1|autosomal dominant spastic paraplegia 51|SPG51|spastic paraplegia 51, autosomal recessive; SPG51 MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase biolink:Disease mondo ICD10:E72.1|DOID:0111039|GARD:0013177|Orphanet:88618|SCTID:724039002|UMLS:C3151058|UMLS:C4510276|OMIM:613752 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. SNOMEDCT:724039002|UMLS:C4510276|ORPHA:88618|http://identifiers.org/omim/613752|UMLS:C3151058|DOID:0111039 http://purl.obolibrary.org/obo/MONDO_0013404 hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency|psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency ordo_disease MONDO:0013405 retinitis pigmentosa 49 biolink:Disease mondo UMLS:C3151059|ICD10:H35.5|DOID:0110377|OMIM:613756 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene. DOID:0110377|UMLS:C3151059|http://identifiers.org/omim/613756 http://purl.obolibrary.org/obo/MONDO_0013405 retinitis pigmentosa type 49|retinitis pigmentosa 49; RP49|retinitis pigmentosa caused by mutation in CNGA1|CNGA1 retinitis pigmentosa|RP49|retinitis pigmentosa 49 MONDO:0013402 retinitis pigmentosa 27 biolink:Disease mondo UMLS:C1834329|ICD10:H35.5|OMIM:613750|MESH:C563526|DOID:0110397 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene. DOID:0110397|MESH:C563526|UMLS:C1834329|http://identifiers.org/omim/613750 http://purl.obolibrary.org/obo/MONDO_0013402 NRL retinitis pigmentosa|retinitis pigmentosa 27|retinitis pigmentosa type 27|retinitis pigmentosa caused by mutation in NRL|retinal Degeneration, autosomal recessive, Clumped pigment type|retinitis pigmentosa 27; RP27|RP27 MONDO:0013403 heterotaxy, visceral, 4, autosomal biolink:Disease mondo OMIM:613751|UMLS:C3151057 Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene. UMLS:C3151057|http://identifiers.org/omim/613751 http://purl.obolibrary.org/obo/MONDO_0013403 HTX4|heterotaxy, visceral, 4, autosomal|ACVR2B visceral heterotaxy|heterotaxy, visceral, 4, autosomal; HTX4|visceral heterotaxy caused by mutation in ACVR2B MONDO:0001429 transient arthropathy biolink:Disease mondo ICD9:716.48|ICD9:716.40|ICD9:716.41|COHD:81930|SCTID:66191007|DOID:12084|NCIT:C35761 Arthropathy that is not permanent. SNOMEDCT:66191007|DOID:12084|NCIT:C35761 http://purl.obolibrary.org/obo/MONDO_0001429 transient arthropathy involving pelvic region and thigh|transient arthropathy involving shoulder region|transient arthropathy involving hand|transient arthropathy involving multiple sites|transient arthropathy involving forearm|transient arthropathy involving lower leg|transient arthropathy involving upper arm NCBITaxon:3760 Prunus persica organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_3760 peach|Persica vulgaris|Amygdalus persica MONDO:0001428 pylorospasm biolink:Disease mondo COHD:194071|ICD9:537.81|UMLS:C0152163|SCTID:335002|DOID:12072 DOID:12072|UMLS:C0152163|SNOMEDCT:335002 http://purl.obolibrary.org/obo/MONDO_0001428 MONDO:0001427 Dieulafoy lesion biolink:Disease mondo ICD10:K31.82|DOID:12070|UMLS:C0341217|ICD9:537.84|GARD:0010930|SCTID:109558001 Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly. DOID:12070|UMLS:C0341217|SNOMEDCT:109558001 http://purl.obolibrary.org/obo/MONDO_0001427 Exulceratio simplex Dieulafoy|Dieulafoy lesion (hemorrhagic) of intestine|Dieulafoy disease|Dieulafoy lesion (hemorrhagic) of stomach and duodenum|Dieulafoy's lesion gard_rare NCBITaxon:11095 Pestivirus organism taxon mondo PMID:7747470|PMID:12832207|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11095 HGNC:359 AIPL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/359 HGNC:358 AIP biolink:OntologyClass mondo http://identifiers.org/hgnc/358 CHEBI:49020 hormone antagonist biolink:ChemicalSubstance mondo A chemical substance which inhibits the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. http://purl.obolibrary.org/obo/CHEBI_49020 hormone antagonists CHEBI:49023 prostaglandin antagonist biolink:ChemicalSubstance mondo A compound that inhibits the action of prostaglandins. http://purl.obolibrary.org/obo/CHEBI_49023 prostaglandin inhibitor GO:1902262 apoptotic process involved in blood vessel morphogenesis biolink:OntologyClass mondo Any apoptotic process that is involved in blood vessel morphogenesis. http://purl.obolibrary.org/obo/GO_1902262 apoptosis involved in patterning of blood vessels|type I programmed cell death involved in patterning of blood vessels|signaling (initiator) caspase activity involved in patterning of blood vessels|apoptotic cell death involved in patterning of blood vessels|apoptotic programmed cell death involved in patterning of blood vessels|apoptotic program involved in patterning of blood vessels|programmed cell death by apoptosis involved in patterning of blood vessels GO:0001539 cilium or flagellum-dependent cell motility biolink:OntologyClass mondo Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. http://purl.obolibrary.org/obo/GO_0001539 ciliary/flagellar motility|ciliary or bacterial-type flagellar motility HGNC:368 AKAP10 biolink:OntologyClass mondo http://identifiers.org/hgnc/368 HP:0000802 Impotence biolink:PhenotypicFeature mondo MSH:D007172|SNOMEDCT_US:397803000|UMLS:C0242350 Inability to develop or maintain an erection of the penis. http://purl.obolibrary.org/obo/HP_0000802 Difficulty getting an erection|Difficulty getting a full erection HGNC:362 AK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/362 HGNC:361 AK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/361 HGNC:360 AIRE biolink:OntologyClass mondo http://identifiers.org/hgnc/360 GO:1902271 D3 vitamins binding biolink:OntologyClass mondo Interacting selectively and non-covalently with D3 vitamins. http://purl.obolibrary.org/obo/GO_1902271 HGNC:336 AGTR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/336 HGNC:333 AGT biolink:OntologyClass mondo http://identifiers.org/hgnc/333 HGNC:330 AGRP biolink:OntologyClass mondo http://identifiers.org/hgnc/330 CHEBI:27690 acetazolamide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_27690 acetazolamide|acetazolamidum|Defiltran|acetazolamida|5-acetylamino-1,3,4-thiadiazole-2-sulfonamide|2-acetylamino-1,3,4-thiadiazole-5-sulfonamide|Diluran|5-ACETAMIDO-1,3,4-THIADIAZOLE-2-SULFONAMIDE|Glaupax|Acetazolamide|N-[5-(aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide|N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide|N-[5-(aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide|Diacarb|Diamox HGNC:7501 MT-TW biolink:OntologyClass mondo http://identifiers.org/hgnc/7501 HGNC:7500 MT-TV biolink:OntologyClass mondo http://identifiers.org/hgnc/7500 HGNC:329 AGRN biolink:OntologyClass mondo http://identifiers.org/hgnc/329 GO:0001523 retinoid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. http://purl.obolibrary.org/obo/GO_0001523 retinoid metabolism NCBITaxon:376913 Haplorrhini organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_376913 HGNC:343 AHCY biolink:OntologyClass mondo http://identifiers.org/hgnc/343 NCBITaxon:35082 Cryptosporidiidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_35082 HGNC:7508 MUC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7508 HGNC:341 AGXT biolink:OntologyClass mondo http://identifiers.org/hgnc/341 HGNC:7516 MUC5B biolink:OntologyClass mondo http://identifiers.org/hgnc/7516 HGNC:7518 MUC7 biolink:OntologyClass mondo http://identifiers.org/hgnc/7518 CHEBI:37022 amino-acid anion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37022 amino acid anions|amino-acid anion|amino-acid anions HGNC:317 AFP biolink:OntologyClass mondo http://identifiers.org/hgnc/317 HGNC:315 AFG3L2 biolink:OntologyClass mondo http://identifiers.org/hgnc/315 NCBITaxon:86661 Bacillus cereus group organism taxon mondo PMID:23475340|PMID:1715736|GC_ID:11|PMID:26373441 http://purl.obolibrary.org/obo/NCBITaxon_86661 HP:0000834 Abnormality of the adrenal glands biolink:PhenotypicFeature mondo UMLS:C0001621|SNOMEDCT_US:30171000|MSH:D000307|UMLS:C4021794 Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. http://purl.obolibrary.org/obo/HP_0000834 Adrenal gland disease|Adrenal abnormalities HGNC:7523 TRIM37 biolink:OntologyClass mondo http://identifiers.org/hgnc/7523 HGNC:7525 MUSK biolink:OntologyClass mondo http://identifiers.org/hgnc/7525 HGNC:7527 MUTYH biolink:OntologyClass mondo http://identifiers.org/hgnc/7527 HGNC:7526 MMUT biolink:OntologyClass mondo http://identifiers.org/hgnc/7526 HGNC:7529 MVD biolink:OntologyClass mondo http://identifiers.org/hgnc/7529 HP:0000830 Anterior hypopituitarism biolink:PhenotypicFeature mondo UMLS:C4025821 A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. http://purl.obolibrary.org/obo/HP_0000830 HP:0012823 Clinical modifier biolink:PhenotypicFeature mondo UMLS:C4021064 This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. http://purl.obolibrary.org/obo/HP_0012823 Phenotypic modifier HP:0012824 Severity biolink:PhenotypicFeature mondo SNOMEDCT_US:103370009|UMLS:C0522510 The intensity or degree of a manifestation. http://purl.obolibrary.org/obo/HP_0012824 Intensity HP:0012825 Mild biolink:PhenotypicFeature mondo SNOMEDCT_US:446411000124101|UMLS:C1513302 Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. http://purl.obolibrary.org/obo/HP_0012825 Mild HP:0012826 Moderate biolink:PhenotypicFeature mondo UMLS:C0205081|SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007 Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. http://purl.obolibrary.org/obo/HP_0012826 HP:0012828 Severe biolink:PhenotypicFeature mondo UMLS:C0205082|SNOMEDCT_US:24484000 Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. http://purl.obolibrary.org/obo/HP_0012828 Severe CHEBI:52625 inorganic hydroxy compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_52625 inorganic hydroxides HGNC:327 AGPS biolink:OntologyClass mondo http://identifiers.org/hgnc/327 GO:0001501 skeletal system development biolink:OntologyClass mondo The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). http://purl.obolibrary.org/obo/GO_0001501 skeletal development HGNC:325 AGPAT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/325 HGNC:321 AGL biolink:OntologyClass mondo http://identifiers.org/hgnc/321 HP:0000843 Hyperparathyroidism biolink:PhenotypicFeature mondo SNOMEDCT_US:66999008|UMLS:C0020502|MSH:D006961 Excessive production of parathyroid hormone (PTH) by the parathyroid glands. http://purl.obolibrary.org/obo/HP_0000843 Elevated blood parathyroid hormone level HP:0000846 Adrenal insufficiency biolink:PhenotypicFeature mondo MSH:D000309|SNOMEDCT_US:386584007|SNOMEDCT_US:237785004|SNOMEDCT_US:111563005|UMLS:C0001623 Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. http://purl.obolibrary.org/obo/HP_0000846 Hypoadrenalism HP:0000847 Abnormality of renin-angiotensin system biolink:PhenotypicFeature mondo UMLS:C4021793 An abnormality of the renin-angiotensin system. http://purl.obolibrary.org/obo/HP_0000847 Abnormality of the renin-aldosterone axis HGNC:7534 MXI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7534 HP:0000842 Hyperinsulinemia biolink:PhenotypicFeature mondo UMLS:C0020459|SNOMEDCT_US:83469008|MSH:D006946 An increased concentration of insulin in the blood. http://purl.obolibrary.org/obo/HP_0000842 Elevated insulin level GO:0001508 action potential biolink:OntologyClass mondo A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. http://purl.obolibrary.org/obo/GO_0001508 GO:0001503 ossification biolink:OntologyClass mondo The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/GO_0001503 bone formation|osteogenesis|bone biosynthesis HGNC:7530 MVK biolink:OntologyClass mondo http://identifiers.org/hgnc/7530 GO:0001505 regulation of neurotransmitter levels biolink:OntologyClass mondo Any process that modulates levels of neurotransmitter. http://purl.obolibrary.org/obo/GO_0001505 HGNC:319 ACAN biolink:OntologyClass mondo http://identifiers.org/hgnc/319 HGNC:318 AGA biolink:OntologyClass mondo http://identifiers.org/hgnc/318 HP:0000819 Diabetes mellitus biolink:PhenotypicFeature mondo MSH:D003920|SNOMEDCT_US:73211009|UMLS:C0011849 A group of abnormalities characterized by hyperglycemia and glucose intolerance. http://purl.obolibrary.org/obo/HP_0000819 HP:0000818 Abnormality of the endocrine system biolink:PhenotypicFeature mondo SNOMEDCT_US:362969004|MSH:D004700|UMLS:C0014130|UMLS:C4025823 An abnormality of the endocrine system. http://purl.obolibrary.org/obo/HP_0000818 Endocrine system disease HP:0000811 Abnormal external genitalia biolink:PhenotypicFeature mondo UMLS:C4025825 http://purl.obolibrary.org/obo/HP_0000811 Abnormal external genitalia HP:0000812 Abnormal internal genitalia biolink:PhenotypicFeature mondo UMLS:C4025824 An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia HP:0000815 Hypergonadotropic hypogonadism biolink:PhenotypicFeature mondo UMLS:C0948896|SNOMEDCT_US:370999003|MSH:D007006 Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. http://purl.obolibrary.org/obo/HP_0000815 Hypergonadotrophic hypogonadism|Primary hypogonadism UBERON:0012615 umbilical smooth muscle biolink:AnatomicalEntity mondo A smooth muscle tissue that is part of a umbilical cord. http://purl.obolibrary.org/obo/UBERON_0012615 NCBITaxon:72041 Eumalacostraca organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_72041 HGNC:7549 MYBPC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7549 HP:0000829 Hypoparathyroidism biolink:PhenotypicFeature mondo SNOMEDCT_US:36976004|MSH:D007011|UMLS:C0020626 A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. http://purl.obolibrary.org/obo/HP_0000829 Decreased parathyroid hormone secretion|Low parathyroid hormone HP:0000822 Hypertension biolink:PhenotypicFeature mondo MSH:D006973|UMLS:C0497247|UMLS:C0020538|SNOMEDCT_US:24184005|SNOMEDCT_US:38341003 The presence of chronic increased pressure in the systemic arterial system. http://purl.obolibrary.org/obo/HP_0000822 High blood pressure|Systemic hypertension HP:0000826 Precocious puberty biolink:PhenotypicFeature mondo SNOMEDCT_US:400179000|UMLS:C0034013|MSH:D011629|SNOMEDCT_US:123527003 The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. http://purl.obolibrary.org/obo/HP_0000826 Early onset of puberty|Early puberty HP:0000828 Abnormality of the parathyroid gland biolink:PhenotypicFeature mondo SNOMEDCT_US:73132005|UMLS:C0030517|MSH:D010279|UMLS:C4025822 An abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/HP_0000828 Parathyroid disease CHEBI:25000 lactone biolink:ChemicalSubstance mondo Any cyclic carboxylic ester containing a 1-oxacycloalkan-2-one structure, or an analogue having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. http://purl.obolibrary.org/obo/CHEBI_25000 Lakton|lactona|lactones|Laktone|lactonas|lactone|Lacton HGNC:7559 MYCN biolink:OntologyClass mondo http://identifiers.org/hgnc/7559 HP:0000820 Abnormality of the thyroid gland biolink:PhenotypicFeature mondo MSH:D013959|UMLS:C0040128|SNOMEDCT_US:14304000 An abnormality of the thyroid gland. http://purl.obolibrary.org/obo/HP_0000820 Thyroid disease|Thyroid abnormality|Abnormality of the thyroid gland HGNC:7551 MYBPC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7551 HGNC:7553 MYC biolink:OntologyClass mondo http://identifiers.org/hgnc/7553 ENVO:01000314 high osmolarity environment biolink:OntologyClass mondo A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes. http://purl.obolibrary.org/obo/ENVO_01000314 ENVO:01000317 aquatic environment biolink:OntologyClass mondo An environment whose dynamics are strongly influenced by water. http://purl.obolibrary.org/obo/ENVO_01000317 ENVO:01000313 anthropogenic environment biolink:OntologyClass mondo An anthropogenic environment is an environmental system which is the product of human activity. http://purl.obolibrary.org/obo/ENVO_01000313 ENVO:01000319 rocky slope biolink:OntologyClass mondo A rocky slope is a slope which has a surface primarily composed of rock. http://purl.obolibrary.org/obo/ENVO_01000319 CL:0000362 epidermal cell biolink:Cell mondo BTO:0001470|CALOHA:TS-0283|FMA:62411 An epithelial cell of the integument (the outer layer of an organism). http://purl.obolibrary.org/obo/CL_0000362 cell of epidermis|epithelial cell of skin UBERON:4000013 mineralized skeletal tissue biolink:AnatomicalEntity mondo Skeletal tissue that is mineralized. http://purl.obolibrary.org/obo/UBERON_4000013 mineralized tissue ENVO:01000303 endolithic environment biolink:OntologyClass mondo An endolithic environment is an environment that exists within solid rock. http://purl.obolibrary.org/obo/ENVO_01000303 GO:0050433 regulation of catecholamine secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of catecholamines. http://purl.obolibrary.org/obo/GO_0050433 ENVO:01000304 high pressure environment biolink:OntologyClass mondo A high pressure environment is an environment in which all material entities are exposed to a high ratio of force per unit area. http://purl.obolibrary.org/obo/ENVO_01000304 ENVO:01000305 high temperature environment biolink:OntologyClass mondo A high temperature environment is an environment in which material entities are exposed to increased levels of heat radiation or which have molecules or atoms moving randomly with increased levels of average kinietic energy. http://purl.obolibrary.org/obo/ENVO_01000305 GO:0050432 catecholamine secretion biolink:OntologyClass mondo The regulated release of catecholamines by a cell. The catecholamines are a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. http://purl.obolibrary.org/obo/GO_0050432 ENVO:01000307 saline water environment biolink:OntologyClass mondo An environmental system which has its properties and dynamics determined by saline water. http://purl.obolibrary.org/obo/ENVO_01000307 ENVO:01000309 cold environment biolink:OntologyClass mondo An environment which has a lower temperature than some local or global average. http://purl.obolibrary.org/obo/ENVO_01000309 ENVO:01000334 talus slope biolink:OntologyClass mondo A talus slope is a slope which has a surface layer composed of scree. http://purl.obolibrary.org/obo/ENVO_01000334 scree slope HGNC:24054 KNL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24054 ENVO:01000325 aquatic layer biolink:OntologyClass mondo A layer in a water mass, itself composed primarily of water. http://purl.obolibrary.org/obo/ENVO_01000325 ENVO:01000321 sea water environment biolink:OntologyClass mondo An environmental system determined by seawater. http://purl.obolibrary.org/obo/ENVO_01000321 ocean water environment ENVO:01000323 atmospheric boundary layer biolink:OntologyClass mondo The atmospheric boundary layer is the lowest layer of an atmosphere which is strongly influenced by its contact with a planetary surface with strong vertical mixing and in which physical quantities such as flow velocity, temperature, and moisture display rapid fluctuations (turbulence). http://purl.obolibrary.org/obo/ENVO_01000323 planetary boundary layer ENVO:01000324 planetary surface biolink:OntologyClass mondo A planetary surface is a surface layer where the solid or liquid material of a planet comes into contact with an atmosphere or outer space. http://purl.obolibrary.org/obo/ENVO_01000324 CL:0000354 blastemal cell biolink:Cell mondo ncithesaurus:Blastemal_Cell http://purl.obolibrary.org/obo/CL_0000354 blastema cell CL:0000357 stratified epithelial stem cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000357 ENVO:01000320 marine environment biolink:OntologyClass mondo A marine environment and enviroment which is determined by a marine water body. http://purl.obolibrary.org/obo/ENVO_01000320 HGNC:24039 CLMP biolink:OntologyClass mondo http://identifiers.org/hgnc/24039 HGNC:399 ALB biolink:OntologyClass mondo http://identifiers.org/hgnc/399 CL:0000325 stuff accumulating cell biolink:Cell mondo A cell that is specialised to accumulate a particular substance(s). http://purl.obolibrary.org/obo/CL_0000325 _upper_level HGNC:397 ALAS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/397 CL:0000327 extracellular matrix secreting cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000327 HGNC:395 ALAD biolink:OntologyClass mondo http://identifiers.org/hgnc/395 CL:0000329 oxygen accumulating cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000329 HGNC:24035 APPL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24035 HGNC:393 AKT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/393 HGNC:24036 APC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/24036 HGNC:392 AKT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/392 HGNC:391 AKT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/391 HGNC:26690 CEP120 biolink:OntologyClass mondo http://identifiers.org/hgnc/26690 CL:0000322 pneumocyte biolink:Cell mondo CALOHA:TS-2168|FMA:62499|BTO:0000395 An epithelial cell that lines the peripheral gas exchange region of the lungs of air-breathing vertebrates. http://purl.obolibrary.org/obo/CL_0000322 alveolar epithelial cell|pneumonocyte CL:0000336 adrenal medulla chromaffin cell biolink:Cell mondo FMA:69262 A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation. http://purl.obolibrary.org/obo/CL_0000336 medullary chromaffin cell of adrenal gland CL:0000339 glioblast (sensu Vertebrata) biolink:Cell mondo FMA:70564 An early neural cell developing from the early ependymal cell of the neural tube. http://purl.obolibrary.org/obo/CL_0000339 spongioblast GO:1902224 ketone body metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving ketone body. http://purl.obolibrary.org/obo/GO_1902224 ketone body metabolism GO:1902221 erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving erythrose 4-phosphate/phosphoenolpyruvate family amino acid. http://purl.obolibrary.org/obo/GO_1902221 erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolism CL:0000333 migratory neural crest cell biolink:Cell mondo FMA:86667 A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. http://purl.obolibrary.org/obo/CL_0000333 NCBITaxon:2169701 Onyong-nyong virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2169701 ONN|O'nyong-nyong virus HGNC:379 AKAP9 biolink:OntologyClass mondo http://identifiers.org/hgnc/379 CL:0000300 gamete biolink:Cell mondo CALOHA:TS-0395|FBbt:00005412|FMA:18649 A mature sexual reproductive cell having a single set of unpaired chromosomes. http://purl.obolibrary.org/obo/CL_0000300 haploid germ cell|haploid nucleated cell HGNC:12033 TRAF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/12033 HGNC:388 AKR1D1 biolink:OntologyClass mondo http://identifiers.org/hgnc/388 HGNC:387 AKR1C4 biolink:OntologyClass mondo http://identifiers.org/hgnc/387 HGNC:385 AKR1C2 biolink:OntologyClass mondo http://identifiers.org/hgnc/385 CL:0000319 mucus secreting cell biolink:Cell mondo BTO:0003689 http://purl.obolibrary.org/obo/CL_0000319 mucous cell CL:0000311 keratin accumulating cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000311 CL:0000312 keratinocyte biolink:Cell mondo FMA:62879|BTO:0000667|CALOHA:TS-0500 An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell. http://purl.obolibrary.org/obo/CL_0000312 malpighian cell|keratinized cell of epidermis CL:0000313 serous secreting cell biolink:Cell mondo FMA:62511|BTO:0003687 Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. http://purl.obolibrary.org/obo/CL_0000313 serous cell MONDO:0001488 anterior corneal pigmentation biolink:Disease mondo SCTID:18377001|DOID:12307|ICD9:371.11|ICD10:H18.01|UMLS:C0155104 UMLS:C0155104|SNOMEDCT:18377001|DOID:12307 http://purl.obolibrary.org/obo/MONDO_0001488 anterior corneal pigmentations MONDO:0001487 intrahepatic bile duct cancer biolink:Disease mondo ICD9:155.1|UMLS:C0546835|SCTID:187777008|DOID:12298 A cancer that involves the intrahepatic bile duct. SNOMEDCT:187777008|DOID:12298|UMLS:C0546835 http://purl.obolibrary.org/obo/MONDO_0001487 Ca intrahepatic bile ducts|malignant neoplasm of intrahepatic bile ducts|malignant neoplasm of intrahepatic bile duct|malignant intrahepatic bile duct neoplasm|malignant neoplasm of intrahepatic biliary passages|cancer of intrahepatic bile duct NCBITaxon:11102 Hepacivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11102 Hepatitis C viruses|Hepatitis C-like viruses|Hepatitis C virus group MONDO:0025457 pulmonary adenomatosis, ovine biolink:Disease mondo MESH:D011648|UMLS:C0034049 A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus. MESH:D011648|UMLS:C0034049 http://purl.obolibrary.org/obo/MONDO_0025457 Ovine pulmonary carcinomas|carcinomas, Ovine pulmonary|pulmonary carcinomas, Ovine|pulmonary Ovine Adenomatoses|Ovine pulmonary Adenomatoses|pulmonary carcinoma, Ovine|adenomatosis, pulmonary, Ovine|pulmonary Ovine adenomatosis|Ovine pulmonary adenomatosis|adenomatosis, pulmonary Ovine|adenomatosis, Ovine pulmonary|Ovine adenomatosis, pulmonary|Ovine pulmonary carcinoma|Jaagsiekte|Adenomatoses, Ovine pulmonary|Adenomatoses, pulmonary Ovine|Ovine Adenomatoses, pulmonary|pulmonary Adenomatoses, Ovine|carcinoma, Ovine pulmonary MONDO:0001486 obsolete Vogt-Koyanagi-Harada disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001486 MONDO:0001485 atypical depressive disorder biolink:Disease mondo DOID:12294|ICD9:296.82|COHD:438727|ICD10:F32.8|SCTID:191659001 A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. DOID:12294|SNOMEDCT:191659001 http://purl.obolibrary.org/obo/MONDO_0001485 atypical depression NCBITaxon:11103 Hepacivirus C organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11103 human hepatitis C virus|hepatitis C virus HCV|post-transfusion hepatitis non A non B virus|human hepatitis C virus HCV|human hepatitis virus C HCV|HCV|Hepatitis C virus MONDO:0025459 rinderpest biolink:Disease mondo MESH:D012301|UMLS:C0035637 A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010. MESH:D012301|UMLS:C0035637 http://purl.obolibrary.org/obo/MONDO_0025459 plague, cattle|cattle plague MONDO:0001489 obsolete urticaria pigmentosa biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001489 MONDO:0001480 malignant tumor of undescended testis biolink:Disease mondo UMLS:C0153595|ICD9:186.0|COHD:4092524|DOID:12276|ICD10:C62.0|SCTID:188219004 DOID:12276|UMLS:C0153595|SNOMEDCT:188219004 http://purl.obolibrary.org/obo/MONDO_0001480 malignant tumor of retained testis|malignant neoplasm of retained testis|malignant neoplasm of undescended testis MONDO:0001484 paranoid schizophrenia biolink:Disease mondo NCIT:C35006|ICD9:295.31|MESH:D012563|ICD9:295.30|SCTID:31658008|ICD9:295.3|ICD10:F20.0|COHD:433450|DOID:1229|ICD9:295.32 A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect. MESH:D012563|DOID:1229|NCIT:C35006|SNOMEDCT:31658008 http://purl.obolibrary.org/obo/MONDO_0001484 chronic paranoid schizophrenia|paraphrenic schizophrenia|paranoid type schizophrenia subchronic state|paranoid type schizophrenia|paraphrenia - late MONDO:0001483 obsolete Crimean-Congo hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001483 MONDO:0025453 pneumonia, progressive interstitial, of sheep biolink:Disease mondo MESH:D011021|UMLS:C0032306 Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity. MESH:D011021|UMLS:C0032306 http://purl.obolibrary.org/obo/MONDO_0025453 progressive interstitial pneumonia of sheep|Maedi MONDO:0001482 testicular leukemia biolink:Disease mondo UMLS:C1336711|NCIT:C9277|DOID:12286 A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03 DOID:12286|UMLS:C1336711|NCIT:C9277 http://purl.obolibrary.org/obo/MONDO_0001482 testicular leukemia MONDO:0001481 femoral vein thrombophlebitis biolink:Disease mondo ICD10:I80.1|COHD:439314|UMLS:C0265066|ICD9:451.11|SCTID:1748006|DOID:12282 A thrombophlebitis that involves the femoral vein. SNOMEDCT:1748006|DOID:12282|UMLS:C0265066 http://purl.obolibrary.org/obo/MONDO_0001481 thrombophlebitis of deep femoral vein|thrombophlebitis of femoral vein|phlebitis and thrombophlebitis of femoral vein|phlebitis and thrombophlebitis of femoral vein (deep) (superficial)|femoral vein thrombophlebitis|thrombophlebitis of the femoral vein MONDO:0013477 hypertrophic cardiomyopathy 20 biolink:Disease mondo UMLS:C3151267|DOID:0110326|OMIM:613876 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. http://identifiers.org/omim/613876|UMLS:C3151267|DOID:0110326 http://purl.obolibrary.org/obo/MONDO_0013477 CMH20|cardiomyopathy, familial hypertrophic, type 20|cardiomyopathy, familial hypertrophic, 20|cardiomyopathy, familial hypertrophic, 20; CMH20|cardiomyopathy familial hypertrophic 20|NEXN hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 20|hypertrophic cardiomyopathy caused by mutation in NEXN MONDO:0013478 PLIN1-related familial partial lipodystrophy biolink:Disease mondo ICD10:E88.1|UMLS:C3151268|Orphanet:280356|GARD:0012601|OMIM:613877|DOID:0070205 http://identifiers.org/omim/613877|UMLS:C3151268|ORPHA:280356|DOID:0070205 http://purl.obolibrary.org/obo/MONDO_0013478 familial partial lipodystrophy associated with PLIN1 mutations|familial partial lipodystrophy type 4|lipodystrophy, familial partial, type 4; FPLD4|PLIN1-related FPLD|lipodystrophy, familial partial, type 4|FPLD4|lipodystrophy, familial partial, associated with Plin1 mutations|FPLD due to PLIN1 mutations ordo_disease MONDO:0013475 hypertrophic cardiomyopathy 18 biolink:Disease mondo OMIM:613874|UMLS:C3151265|DOID:0110324 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. http://identifiers.org/omim/613874|UMLS:C3151265|DOID:0110324 http://purl.obolibrary.org/obo/MONDO_0013475 cardiomyopathy, familial hypertrophic, 18; CMH18|PLN hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 18|cardiomyopathy, familial hypertrophic, type 18|cardiomyopathy, familial hypertrophic, 18|hypertrophic cardiomyopathy caused by mutation in PLN|cardiomyopathy familial hypertrophic 18|CMH18 HGNC:12015 TPO biolink:OntologyClass mondo http://identifiers.org/hgnc/12015 MONDO:0013476 hypertrophic cardiomyopathy 19 biolink:Disease mondo OMIM:613875|UMLS:C3151266|DOID:0110325 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene. http://identifiers.org/omim/613875|UMLS:C3151266|DOID:0110325 http://purl.obolibrary.org/obo/MONDO_0013476 hypertrophic cardiomyopathy type 19|cardiomyopathy, familial hypertrophic, 19; CMH19|cardiomyopathy, familial hypertrophic, type 19|CALR3 hypertrophic cardiomyopathy|CMH19|cardiomyopathy, familial hypertrophic, 19|cardiomyopathy familial hypertrophic 19|hypertrophic cardiomyopathy caused by mutation in CALR3 HGNC:12014 TPMT biolink:OntologyClass mondo http://identifiers.org/hgnc/12014 HGNC:14677 DEAF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14677 MONDO:0013479 dilated cardiomyopathy 1HH biolink:Disease mondo UMLS:C3151293|OMIM:613881|DOID:0110448|ICD10:I42.0 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene. http://identifiers.org/omim/613881|UMLS:C3151293|DOID:0110448 http://purl.obolibrary.org/obo/MONDO_0013479 familial isolated dilated cardiomyopathy caused by mutation in BAG3|dilated cardiomyopathy type 1HH|CMD1HH|cardiomyopathy, dilated, type 1Hh|cardiomyopathy, dilated, 1HH; CMD1HH|cardiomyopathy, dilated, 1HH|BAG3 familial isolated dilated cardiomyopathy HGNC:14673 FYCO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14673 MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 biolink:Disease mondo OMIM:613863|MESH:C567827 Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene. http://identifiers.org/omim/613863|MESH:C567827 http://purl.obolibrary.org/obo/MONDO_0013470 Gefs+, type 7|generalized epilepsy with febrile seizures plus caused by mutation in SCN9A|generalized epilepsy with febrile seizures plus, type 7|GEFSP7|febrile seizures, familial, 3B|generalized epilepsy with febrile seizures plus, type 7; GEFSP7|SCN9A generalized epilepsy with febrile seizures plus HGNC:14674 PCDH15 biolink:OntologyClass mondo http://identifiers.org/hgnc/14674 MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction biolink:Disease mondo MESH:C563939|OMIM:613870|UMLS:C3151237 UMLS:C3151237|MESH:C563939|http://identifiers.org/omim/613870 http://purl.obolibrary.org/obo/MONDO_0013473 HCAD|Hirschsprung disease, cardiac defects, and autonomic dysfunction|Hirschsprung disease, CARDIAC defects, and autonomic dysfunction; HCAD MONDO:0013474 hypertrophic cardiomyopathy 17 biolink:Disease mondo UMLS:C3151264|OMIM:613873|DOID:0110323 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene. UMLS:C3151264|DOID:0110323|http://identifiers.org/omim/613873 http://purl.obolibrary.org/obo/MONDO_0013474 cardiomyopathy, familial hypertrophic, 17; CMH17|cardiomyopathy, familial hypertrophic, type 17|hypertrophic cardiomyopathy type 17|JPH2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 17|cardiomyopathy familial hypertrophic 17|hypertrophic cardiomyopathy caused by mutation in JPH2|CMH17 HGNC:12012 TPM3 biolink:OntologyClass mondo http://identifiers.org/hgnc/12012 MONDO:0013471 autosomal recessive nonsyndromic deafness 61 biolink:Disease mondo DOID:0110513|UMLS:C3151230|OMIM:613865|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene. DOID:0110513|http://identifiers.org/omim/613865|UMLS:C3151230 http://purl.obolibrary.org/obo/MONDO_0013471 autosomal recessive nonsyndromic deafness type 61|deafness, autosomal recessive type 61|autosomal recessive deafness 61|deafness, autosomal recessive 61|SLC26A5 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 61; DFNB61|DFNB61|autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5 HGNC:12011 TPM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/12011 MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy biolink:Disease mondo ICD10:G71.2|UMLS:C3151236|DOID:0080309|Orphanet:280553|OMIM:613869 ORPHA:280553|http://identifiers.org/omim/613869|UMLS:C3151236|DOID:0080309 http://purl.obolibrary.org/obo/MONDO_0013472 myofibrillar myopathy type 7|myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related|alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy|MFM, fatal infantile hypertonic, alpha-B crystallin-related|fatal infantile hypertonic myofibrillar myopathy ordo_disease HGNC:12010 TPM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12010 MONDO:0001499 retroperitoneal lymphoma biolink:Disease mondo NCIT:C7353|DOID:12339|UMLS:C1335779|SCTID:422853008 A lymphoma that involves the retroperitoneal space. SNOMEDCT:422853008|NCIT:C7353|DOID:12339|UMLS:C1335779 http://purl.obolibrary.org/obo/MONDO_0001499 retroperitoneal space lymphoma|primary retroperitoneal lymphoma|lymphoma of retroperitoneal space|retroperitoneal lymphoma UBERON:0010090 future falx cerebri biolink:AnatomicalEntity mondo A developing anatomical structure that has the potential to develop into a falx cerebri. http://purl.obolibrary.org/obo/UBERON_0010090 MONDO:0001498 varicocele biolink:Disease mondo SCTID:46871008|DOID:12337|MESH:D014646|UMLS:C0042341|COHD:73801|ICD9:456.4|ICD10:I86.1 A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume. UMLS:C0042341|DOID:12337|SNOMEDCT:46871008|MESH:D014646 http://purl.obolibrary.org/obo/MONDO_0001498 scrotum varicose disease|varicose disease of scrotum|scrotal varices UBERON:0010091 future hindbrain meninx biolink:AnatomicalEntity mondo A multi-tissue structure that has the potential to develop into a meninx of hindbrain. http://purl.obolibrary.org/obo/UBERON_0010091 future hindbrain meninges MONDO:0001497 male genital organ vascular disease biolink:Disease mondo SCTID:198057005|ICD10:N50.1|ICD9:608.83|DOID:12335|UMLS:C0042374 UMLS:C0042374|SNOMEDCT:198057005|DOID:12335 http://purl.obolibrary.org/obo/MONDO_0001497 vascular disorder of male genital organs MONDO:0001496 male genital organ stricture biolink:Disease mondo ICD9:608.85|COHD:194999|DOID:12333|SCTID:198064007 DOID:12333|SNOMEDCT:198064007 http://purl.obolibrary.org/obo/MONDO_0001496 stricture of male genital organs MONDO:0025445 Wieacker-Wolff syndrome (spectrum) biolink:Disease mondo OMIMPS:314580 http://purl.obolibrary.org/obo/MONDO_0025445 UBERON:0010092 future metencephalon biolink:AnatomicalEntity mondo A developing anatomical structure that has the potential to develop into a metencephalon. http://purl.obolibrary.org/obo/UBERON_0010092 MONDO:0025449 paratuberculosis biolink:Disease mondo MESH:D010283|UMLS:C0030524 A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis. UMLS:C0030524|MESH:D010283 http://purl.obolibrary.org/obo/MONDO_0025449 Paratuberculoses|disease, Johne|disease, Johne's|Johne disease|Johnes disease|Johne's disease NCBITaxon:11118 Coronaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11118 MONDO:0001491 cough variant asthma biolink:Disease mondo SCTID:409663006|ICD9:493.82|COHD:313236|DOID:12323|UMLS:C0694548|ICD10:J45.991 An asthma that is characterized by chronic nonproductive cough without shortness of breath. DOID:12323|SNOMEDCT:409663006|UMLS:C0694548 http://purl.obolibrary.org/obo/MONDO_0001491 HGNC:26661 RNF168 biolink:OntologyClass mondo http://identifiers.org/hgnc/26661 MONDO:0001490 corneal granular dystrophy biolink:Disease mondo ICD10:H18.53|ICD9:371.53|UMLS:C0018179|NCIT:C34651|SCTID:45283008|DOID:12318 A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. UMLS:C0018179|DOID:12318|SNOMEDCT:45283008|NCIT:C34651 http://purl.obolibrary.org/obo/MONDO_0001490 granular corneal dystrophy UBERON:0010096 future myelencephalon biolink:AnatomicalEntity mondo A developing anatomical structure that has the potential to develop into a myelencephalon. http://purl.obolibrary.org/obo/UBERON_0010096 MONDO:0001495 hematocele of tunica vaginalis testis biolink:Disease mondo SCTID:66259004|UMLS:C0018931|MESH:D006398|DOID:12332|UMLS:C1456400 Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele. DOID:12332|MESH:D006398|SNOMEDCT:66259004|UMLS:C1456400|UMLS:C0018931 http://purl.obolibrary.org/obo/MONDO_0001495 male hematocele|hematocele MONDO:0001494 obsolete transvestism biolink:Disease mondo MESH:D014190|ICD9:302.3|UMLS:C0040774|ICD10:F65.1|NCIT:C94359|ICD10:F64.1|SCTID:472981000|DOID:1233 A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing. UMLS:C0040774|DOID:1233|MESH:D014190|NCIT:C94359|SNOMEDCT:472981000 http://purl.obolibrary.org/obo/MONDO_0001494 cross dresser|Transvestic fetishism|dual-role transvestism MONDO:0001493 chronic pulmonary heart disease biolink:Disease mondo DOID:12326|UMLS:C0238074|COHD:315831|ICD9:416.9|ICD9:416.8|NCIT:C34478|SCTID:87837008 Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. DOID:12326|UMLS:C0238074|SNOMEDCT:87837008|NCIT:C34478 http://purl.obolibrary.org/obo/MONDO_0001493 Cor pulmonale|Cor pulmonale MONDO:0001492 kyphoscoliotic heart disease biolink:Disease mondo SCTID:45650007|DOID:12325|ICD10:I27.1|UMLS:C0152102|ICD9:416.1|COHD:317000 DOID:12325|SNOMEDCT:45650007|UMLS:C0152102 http://purl.obolibrary.org/obo/MONDO_0001492 MONDO:0013466 orofacial cleft 13 biolink:Disease mondo OMIM:613857|UMLS:C3151222 http://identifiers.org/omim/613857|UMLS:C3151222 http://purl.obolibrary.org/obo/MONDO_0013466 orofacial cleft 13|OFC13|orofacial cleft 13; OFC13 ENVO:03000111 snow mass biolink:OntologyClass mondo A mass of snow. http://purl.obolibrary.org/obo/ENVO_03000111 snow accumulation|accumulation of snow ENVO:03000110 cryoform biolink:OntologyClass mondo A geographic feature which is primarily composed of a continuous mass of snow and/or ice. http://purl.obolibrary.org/obo/ENVO_03000110 MONDO:0013467 immunodeficiency due to ficolin3 deficiency biolink:Disease mondo Orphanet:331190|OMIM:613860|ICD10:D84.1|SCTID:766705006|UMLS:C3151226 http://identifiers.org/omim/613860|SNOMEDCT:766705006|UMLS:C3151226|ORPHA:331190 http://purl.obolibrary.org/obo/MONDO_0013467 lectin complement activation pathway, defect in, 3|Fcn3 deficiency|ficolin 3 deficiency|immunodeficiency due to ficolin 3 deficiency ordo_disease MONDO:0013464 episodic ataxia type 5 biolink:Disease mondo Orphanet:211067|MESH:C566601|DOID:0050993|SCTID:718756005|OMIM:613855|ICD10:G11.8|UMLS:C1866039 Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours. http://identifiers.org/omim/613855|MESH:C566601|SNOMEDCT:718756005|ORPHA:211067|DOID:0050993|UMLS:C1866039 http://purl.obolibrary.org/obo/MONDO_0013464 EA5|episodic ataxia, type 5|hereditary episodic ataxia caused by mutation in CACNB4|CACNB4 hereditary episodic ataxia|episodic ataxia, type 5; EA5 ordo_disease MONDO:0013465 achromatopsia 4 biolink:Disease mondo OMIM:613856|UMLS:C1841721|DOID:0110010|MESH:C564206 Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene. http://identifiers.org/omim/613856|DOID:0110010|MESH:C564206|UMLS:C1841721 http://purl.obolibrary.org/obo/MONDO_0013465 achromatopsia 4|GNAT2 achromatopsia|achromatopsia type 4|ACHM4|achromatopsia caused by mutation in GNAT2|achromatopsia 4; ACHM4 MONDO:0013468 retinitis pigmentosa 59 biolink:Disease mondo ICD10:H35.5|OMIM:613861|UMLS:C3151227|DOID:0110352 Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene. http://identifiers.org/omim/613861|UMLS:C3151227|DOID:0110352 http://purl.obolibrary.org/obo/MONDO_0013468 retinitis pigmentosa type 59|DHDDS retinitis pigmentosa|retinitis pigmentosa 59; RP59|retinitis pigmentosa caused by mutation in DHDDS|RP59|congenital disorder of glycosylation, type Ibb|retinitis pigmentosa 59 MONDO:0013469 retinitis pigmentosa 38 biolink:Disease mondo ICD10:H35.5|OMIM:613862|DOID:0110367|UMLS:C3151228 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene. http://identifiers.org/omim/613862|UMLS:C3151228|DOID:0110367 http://purl.obolibrary.org/obo/MONDO_0013469 RP38|MERTK retinitis pigmentosa|retinitis pigmentosa type 38|retinitis pigmentosa 38; RP38|retinitis pigmentosa caused by mutation in MERTK|Rod-cone dystrophy, childhood-onset|retinitis pigmentosa 38 HGNC:12029 TRAC biolink:OntologyClass mondo http://identifiers.org/hgnc/12029 NCBITaxon:37727 Talaromyces marneffei organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_37727 Penicillium marneffei MONDO:0013462 fucosyltransferase 6 deficiency biolink:Disease mondo OMIM:613852|UMLS:C3151219 http://identifiers.org/omim/613852|UMLS:C3151219 http://purl.obolibrary.org/obo/MONDO_0013462 fucosyltransferase 6 deficiency MONDO:0013463 dextro-looped transposition of the great arteries 3 biolink:Disease mondo ICD10:Q20.3|DOID:0060772|UMLS:C3151221|OMIM:613854 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene. http://identifiers.org/omim/613854|UMLS:C3151221|DOID:0060772 http://purl.obolibrary.org/obo/MONDO_0013463 transposition of the great arteries, dextro-looped 3|DTGA3|congenital heart defects, multiple types, 6|GDF1 dextro-looped transposition of the great arteries|CHTD6|transposition of the great arteries, dextro-looped type 3|transposition of the great arteries, dextro-looped 3, formerly|congenital heart defects, multiple types, 6; CHTD6|dextro-looped transposition of the great arteries type 3|transposition of the great arteries, dextro-looped 3; DTGA3|dextro-looped transposition of the great arteries caused by mutation in GDF1 MONDO:0013460 osteogenesis imperfecta type 12 biolink:Disease mondo DOID:0110348|UMLS:C3151433|OMIM:613849|ICD10:Q78.0 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene. UMLS:C3151433|DOID:0110348|http://identifiers.org/omim/613849 http://purl.obolibrary.org/obo/MONDO_0013460 SP7 osteogenesis imperfecta|osteogenesis imperfecta, type XII; OI12|osteogenesis imperfecta caused by mutation in SP7|osteogenesis imperfecta, type XII|OI, type 12|osteogenesis imperfecta, type 12|OI12|osteogenesis imperfecta type XII MONDO:0013461 inosine triphosphatase deficiency biolink:Disease mondo NCIT:C129974|OMIM:613850|SCTID:238011005|ICD9:277.2|MESH:C564127|UMLS:C0342800 An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes. http://identifiers.org/omim/613850|NCIT:C129974|MESH:C564127|UMLS:C0342800|SNOMEDCT:238011005 http://purl.obolibrary.org/obo/MONDO_0013461 inosine triphosphatase deficiency|inosine triphosphate pyrophosphohydrolase deficiency MONDO:0001466 punctate epithelial keratoconjunctivitis biolink:Disease mondo DOID:12197|ICD9:370.21|SCTID:416069001|ICD10:H16.14|UMLS:C0259799|COHD:375265 DOID:12197|UMLS:C0259799|SNOMEDCT:416069001 http://purl.obolibrary.org/obo/MONDO_0001466 Thygeson's superficial punctate keratitis|Thygeson superficial punctate keratitis|punctate keratitis MONDO:0001465 superficial keratitis biolink:Disease mondo DOID:12196|COHD:374643|SCTID:27019000|ICD10:H16.10|ICD9:370.20|UMLS:C0155074 DOID:12196|UMLS:C0155074|SNOMEDCT:27019000 http://purl.obolibrary.org/obo/MONDO_0001465 MONDO:0001464 sigmoid colon cancer biolink:Disease mondo DOID:12192|UMLS:C0153436|ICD10:C18.7|ICD9:153.3|SCTID:363410008 A malignant neoplasm involving the sigmoid colon. SNOMEDCT:363410008|DOID:12192|UMLS:C0153436 http://purl.obolibrary.org/obo/MONDO_0001464 malignant neoplasm of sigmoid colon|malignant sigmoid colon neoplasm|malignant tumor of sigmoid colon|cancer of sigmoid colon|Ca sigmoid colon|sigmoid colon cancer MONDO:0001463 splenic flexure cancer biolink:Disease mondo SCTID:363413005|ICD9:153.7|ICD10:C18.5|DOID:12191|UMLS:C0153440 A malignant neoplasm involving the splenic flexure of colon. SNOMEDCT:363413005|DOID:12191|UMLS:C0153440 http://purl.obolibrary.org/obo/MONDO_0001463 malignant neoplasm of splenic flexure of colon|splenic flexure of colon cancer|malignant splenic flexure of colon neoplasm|Ca splenic flexure - colon|malignant tumor of splenic flexure|malignant neoplasm of splenic flexure|cancer of splenic flexure of colon UBERON:0010083 future dermis biolink:AnatomicalEntity mondo Mesenchyme that has the potential to develop into a dermis. http://purl.obolibrary.org/obo/UBERON_0010083 MONDO:0001469 cascade stomach biolink:Disease mondo DOID:12234|ICD10:K31.2|ICD9:537.6|SCTID:54051005|UMLS:C0267183 UMLS:C0267183|SNOMEDCT:54051005|DOID:12234 http://purl.obolibrary.org/obo/MONDO_0001469 hourglass stricture or stenosis of stomach UBERON:0010084 future diaphragm biolink:AnatomicalEntity mondo A structure that will develop into a diaphragm. http://purl.obolibrary.org/obo/UBERON_0010084 MONDO:0001468 synovial plica syndrome biolink:Disease mondo ICD10:M67.5|ICD9:727.9|SCTID:240171001|UMLS:C0410485|DOID:12225|ICD9:727.83 UMLS:C0410485|DOID:12225|SNOMEDCT:240171001 http://purl.obolibrary.org/obo/MONDO_0001468 plica syndrome|synovial plica of knee UBERON:0010081 future common hepatic duct biolink:AnatomicalEntity mondo An extrahepatic bile duct that has the potential to develop into a common hepatic duct. http://purl.obolibrary.org/obo/UBERON_0010081 UBERON:0009097 gravid organism biolink:AnatomicalEntity mondo An organism containing a developing embryo, fetus, or unborn offspring within the body. http://purl.obolibrary.org/obo/UBERON_0009097 pregnant stage|gravid|pregnant adult|pregnant organism|pregnant adult stage MONDO:0001467 obsolete specific bursitis often of occupational origin biolink:Disease mondo UMLS:C0158332|SCTID:42812006|COHD:137652|ICD9:727.2|DOID:12223 UMLS:C0158332|DOID:12223|SNOMEDCT:42812006 http://purl.obolibrary.org/obo/MONDO_0001467 specific bursitides often of occupational origin MONDO:0001462 descending colon cancer biolink:Disease mondo ICD10:C18.6|DOID:12190|ICD9:153.2|UMLS:C0153435|SCTID:363409003 A malignant neoplasm involving the descending colon. SNOMEDCT:363409003|DOID:12190|UMLS:C0153435 http://purl.obolibrary.org/obo/MONDO_0001462 malignant neoplasm of descending colon|descending colon cancer|malignant tumor of descending colon|malignant neoplasm of left colon|cancer of descending colon|malignant descending colon neoplasm|Ca descending colon RO:0009501 realized in response to biolink:OntologyClass mondo RO:0009501 r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. http://purl.obolibrary.org/obo/RO_0009501 triggered by process MONDO:0001461 tinea corporis biolink:Disease mondo UMLS:C0546826|ICD10:B35.4|SCTID:84849002|COHD:4224968|ICD9:110.5|DOID:12179|UMLS:C0040252 A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin. SNOMEDCT:84849002|UMLS:C0040252|DOID:12179|UMLS:C0546826 http://purl.obolibrary.org/obo/MONDO_0001461 dermatophytosis of the trunk|dermatophytosis of the body MONDO:0001460 dyshormonogenic goiter biolink:Disease mondo DOID:12175|COHD:136933|UMLS:C0152077|SCTID:190304001|ICD9:246.1|ICD10:E07.1 DOID:12175|SNOMEDCT:190304001|UMLS:C0152077 http://purl.obolibrary.org/obo/MONDO_0001460 MONDO:0025431 keratoconjunctivitis, infectious biolink:Disease mondo MESH:D007639|UMLS:C0022576 Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia. MESH:D007639|UMLS:C0022576 http://purl.obolibrary.org/obo/MONDO_0025431 Keratoconjunctivitides, infectious|infectious keratoconjunctivitis|infectious Keratoconjunctivitides MONDO:0013455 hypertrophic cardiomyopathy 16 biolink:Disease mondo OMIM:613838|UMLS:C3151204|DOID:0110322 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene. http://identifiers.org/omim/613838|UMLS:C3151204|DOID:0110322 http://purl.obolibrary.org/obo/MONDO_0013455 cardiomyopathy, familial hypertrophic, type 16|hypertrophic cardiomyopathy caused by mutation in MYOZ2|cardiomyopathy, familial hypertrophic, 16|CMH16|hypertrophic cardiomyopathy type 16|cardiomyopathy familial hypertrophic 16|cardiomyopathy, familial hypertrophic, 16; CMH16|MYOZ2 hypertrophic cardiomyopathy MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease biolink:Disease mondo SCTID:124178006|Orphanet:319651|OMIM:613839|ICD10:D52.8|MESH:C565095|GARD:0011000 ORPHA:319651|http://identifiers.org/omim/613839|MESH:C565095|SNOMEDCT:124178006 http://purl.obolibrary.org/obo/MONDO_0013456 megaloblastic anemia due to dihydrofolate reductase deficiency|dihydrofolate reductase deficiency|DHFR deficiency ordo_disease MONDO:0013453 Leber congenital amaurosis 8 biolink:Disease mondo OMIM:613835|UMLS:C3151202|GARD:0010881|ICD10:H35.5|DOID:0110079 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene. http://identifiers.org/omim/613835|UMLS:C3151202|DOID:0110079 http://purl.obolibrary.org/obo/MONDO_0013453 LCA8|Leber congenital amaurosis type 8|CRB1 Leber congenital amaurosis|Leber congenital amaurosis 8; LCA8|Leber congenital amaurosis caused by mutation in CRB1|Leber congenital amaurosis 8 gard_rare MONDO:0013454 Leber congenital amaurosis 11 biolink:Disease mondo GARD:0010488|ICD10:H35.5|DOID:0110216|UMLS:C1840284|MESH:C564140|OMIM:613837|HGNC:6052 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene. http://identifiers.org/omim/613837|DOID:0110216|MESH:C564140|UMLS:C1840284 http://purl.obolibrary.org/obo/MONDO_0013454 LCA11|Leber congenital amaurosis 11; LCA11|amaurosis congenita of Leber, type 11|Leber congenital amaurosis 11|Leber congenital amaurosis caused by mutation in IMPDH1|IMPDH1 Leber congenital amaurosis|Leber congenital amaurosis type 11 gard_rare MONDO:0013459 osteogenesis imperfecta type 10 biolink:Disease mondo OMIM:613848|ICD10:Q78.0|GARD:0012874|DOID:0110346|UMLS:C3151211 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene. http://identifiers.org/omim/613848|UMLS:C3151211|DOID:0110346 http://purl.obolibrary.org/obo/MONDO_0013459 OI type 10|SERPINH1 osteogenesis imperfecta|OI10|OI type X|osteogenesis imperfecta, type X; OI10|osteogenesis imperfecta caused by mutation in SERPINH1|osteogenesis imperfecta, type X|OI, type 10|osteogenesis imperfecta, type 10|osteogenesis imperfecta type X MONDO:0013457 Leber congenital amaurosis 15 biolink:Disease mondo UMLS:C3151206|GARD:0010884|OMIM:613843|ICD10:H35.5|DOID:0110189 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene. http://identifiers.org/omim/613843|UMLS:C3151206|DOID:0110189 http://purl.obolibrary.org/obo/MONDO_0013457 Leber congenital amaurosis type 15|retinitis pigmentosa, juvenile, Tulp1-related|Leber congenital amaurosis caused by mutation in TULP1|LCA15|TULP1 Leber congenital amaurosis|Leber congenital amaurosis 15|Leber congenital amaurosis 15; LCA15 gard_rare MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome biolink:Disease mondo Orphanet:363694|UMLS:C3151209|ICD10:N15.8|OMIM:613845 http://identifiers.org/omim/613845|ORPHA:363694|UMLS:C3151209 http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome|Hupra syndrome|hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome; HUPRAS|HUPRA syndrome|HUPRAS ordo_disease UBERON:0009098 gravid uterus biolink:AnatomicalEntity mondo The uterus in pregnancy http://purl.obolibrary.org/obo/UBERON_0009098 womb MONDO:0013451 obsolete progressive myoclonic epilepsy type 5 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013451 MONDO:0013452 multisystemic smooth muscle dysfunction syndrome biolink:Disease mondo GARD:0012811|UMLS:C3151201|Orphanet:404463|ICD10:I73.8|OMIM:613834 Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals. http://identifiers.org/omim/613834|UMLS:C3151201|ORPHA:404463 http://purl.obolibrary.org/obo/MONDO_0013452 multisystemic smooth muscle dysfunction syndrome|congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy|mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy ordo_disease|gard_rare MONDO:0013450 congenital stationary night blindness 1D biolink:Disease mondo DOID:0110868|UMLS:C3151193|OMIM:613830 Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene. http://identifiers.org/omim/613830|UMLS:C3151193|DOID:0110868 http://purl.obolibrary.org/obo/MONDO_0013450 Csnb, complete, autosomal recessive|night blindness, congenital stationary, type 1D; CSNB1D|congenital stationary night blindness type 1D|night blindness, congenital stationary, type 1D|CSNB1D|SLC24A1 congenital stationary night blindness|congenital stationary night blindness 1D autosomal recessive|congenital stationary night blindness caused by mutation in SLC24A1 HP:0009145 Abnormal cerebral artery morphology biolink:PhenotypicFeature mondo UMLS:C4021520 Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. http://purl.obolibrary.org/obo/HP_0009145 Abnormality of cerebral artery|Abnormality of the cerebral arteries MONDO:0001477 obsolete aniridia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001477 MONDO:0001476 coloboma biolink:Disease mondo Orphanet:194|ICD9:743.49|NCIT:C98877|ICD10:Q13.0|DOID:12270|SCTID:93390002|MESH:D003103 An abnormality in which a part of a structure in one or both eyes is missing. ORPHA:194|UMLS:C0009363|DOID:12270|NCIT:C98877|MESH:D003103|SNOMEDCT:93390002 http://purl.obolibrary.org/obo/MONDO_0001476 coloboma of eye|ocular coloboma|coloboma of the eye|congenital ocular coloboma|coloboma of macula ordo_group_of_disorders MONDO:0001475 neutropenia biolink:Disease mondo DOID:1227|UMLS:C0027947|ICD9:288.0|ICD10:D70.9|ICD9:288.00|MESH:D009503|ICD10:D70|SCTID:303011007 A decrease in the number of neutrophils found in the blood. SNOMEDCT:303011007|MESH:D009503|UMLS:C0027947|DOID:1227 http://purl.obolibrary.org/obo/MONDO_0001475 neutropenic disorder MONDO:0001474 chronic salpingo-oophoritis biolink:Disease mondo ICD10:N70.13|ICD10:N70.1|COHD:198201|SCTID:198142001|ICD9:614.1|DOID:12265|UMLS:C0156328 Chronic form of salpingo-oophoritis. UMLS:C0156328|DOID:12265|SNOMEDCT:198142001 http://purl.obolibrary.org/obo/MONDO_0001474 chronic salpingo-oophoritis|chronic salpingitis/oophoritis|salpingo-oophoritis, chronic|chronic salpingitis and oophoritis HP:0012795 Abnormality of the optic disc biolink:PhenotypicFeature mondo UMLS:C3808249 A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. http://purl.obolibrary.org/obo/HP_0012795 MONDO:0025425 hepatitis, infectious canine biolink:Disease mondo MESH:D006522 A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea. MESH:D006522 http://purl.obolibrary.org/obo/MONDO_0025425 infectious canine Hepatitis|infectious canine Hepatitides|Hepatitides, canine infectious|Hepatitis, canine infectious|Hepatitides, infectious canine|infectious Hepatitis, canine|canine Hepatitis, infectious|infectious Hepatitides, canine|canine Hepatitides, infectious|canine infectious Hepatitis|canine infectious Hepatitides MONDO:0001479 cutaneous diphtheria biolink:Disease mondo SCTID:18901009|UMLS:C0012555|DOID:12275|ICD9:032.85|EFO:1000683|NCIT:C34544|ICD10:A36.3 A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla. NCIT:C34544|UMLS:C0012555|SNOMEDCT:18901009|DOID:12275 http://purl.obolibrary.org/obo/MONDO_0001479 cutaneous diphtheria UBERON:0010070 intermediate layer of tympanic membrane biolink:AnatomicalEntity mondo The intermediate fibrous layer of the tympanic membrane. http://purl.obolibrary.org/obo/UBERON_0010070 fibrous layer of tympanic membrane|intermediate fibrous layer of tympanic membrane|fibrous stratum of tympanic membrane|connective tissue layer of tympanic membrane|tympanic endothelium MONDO:0001478 anisometropia (disease) biolink:Disease mondo DOID:12273|COHD:375547|HP:0012803|ICD9:367.31|UMLS:C0003081|MESH:D015858|CSP:1116-1678|SCTID:3289004|ICD10:H52.31 A condition of an inequality of refractive power of the two eyes. MESH:D015858|DOID:12273|SNOMEDCT:3289004|UMLS:C0003081 http://purl.obolibrary.org/obo/MONDO_0001478 anisometropia HGNC:26648 BBS12 biolink:OntologyClass mondo http://identifiers.org/hgnc/26648 UBERON:0010071 layer of tympanic membrane biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010071 tympanic membrane layer UBERON:0010077 cuboidal epithelium biolink:AnatomicalEntity mondo An epithelium consisting of cuboidal epithelial cells. http://purl.obolibrary.org/obo/UBERON_0010077 UBERON:0010074 chromaffin system biolink:AnatomicalEntity mondo Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. http://purl.obolibrary.org/obo/UBERON_0010074 argentaffin system|chromaffin tissue MONDO:0013439 congenital bile acid synthesis defect 3 biolink:Disease mondo UMLS:C4304715|OMIM:613812|UMLS:C3151147|Orphanet:79302|MESH:C566340|DOID:0111070|SCTID:719454003|ICD10:K76.8 Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease. http://identifiers.org/omim/613812|MESH:C566340|UMLS:C3151147|DOID:0111070|UMLS:C4304715|ORPHA:79302|SNOMEDCT:719454003 http://purl.obolibrary.org/obo/MONDO_0013439 CBAS3|bile acid synthesis defect, congenital, 3; CBAS3|oxysterol 7-alpha-hydroxylase deficiency|congenital bile acid synthesis defect caused by mutation in CYP7B1|congenital bile acid synthesis defect type 3|bile acid synthesis defect, congenital, type 3|bile acid synthesis defect, congenital, 3|CYP7B1 congenital bile acid synthesis defect|BASD3 ordo_disease UBERON:0010075 sacral neural crest biolink:AnatomicalEntity mondo One of the 5 distinct and partially overlapping functional domains of the premigratory neural crest. The vagal and sacral neural crest cells develop into the ganglia of the enteric nervous system, also known as the parasympathetic ganglia. http://purl.obolibrary.org/obo/UBERON_0010075 MONDO:0001473 medulloadrenal hyperfunction biolink:Disease mondo ICD10:E27.5|COHD:440972|SCTID:111565003|DOID:12257|UMLS:C0154206|ICD9:255.6 DOID:12257|UMLS:C0154206|SNOMEDCT:111565003 http://purl.obolibrary.org/obo/MONDO_0001473 CHEBI:64577 flour treatment agent biolink:ChemicalSubstance mondo A food additive which is added to flour or dough to improve baking quality and/or colour. http://purl.obolibrary.org/obo/CHEBI_64577 improving agent|improving agents|flour treatment agent|dough improvers|dough improver NCBITaxon:543769 Rhizaria organism taxon mondo GC_ID:1|PMID:30257078 http://purl.obolibrary.org/obo/NCBITaxon_543769 MONDO:0001472 testicular lymphoma biolink:Disease mondo UMLS:C0349644|NCIT:C6810|SCTID:277664004|ICD9:186.9|ONCOTREE:TLYM|DOID:12253 A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site. SNOMEDCT:277664004|DOID:12253|UMLS:C0349644|NCIT:C6810 http://purl.obolibrary.org/obo/MONDO_0001472 testicular lymphoma|primary testicular lymphoma|TLYM|lymphoma of testis|malignant lymphoma of testis|lymphoma of the testis MONDO:0025420 gastroenteritis, transmissible, of swine biolink:Disease mondo MESH:D005761|UMLS:C0017162 A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus. UMLS:C0017162|MESH:D005761 http://purl.obolibrary.org/obo/MONDO_0025420 porcine Gastroenteritides, transmissible|transmissible Gastroenteritides, swine|Gastroenteritides, porcine transmissible|Gastroenteritides, transmissible porcine|gastroenteritis, transmissible porcine|porcine gastroenteritis, transmissible|transmissible gastroenteritis, swine|gastroenteritis, porcine transmissible|porcine transmissible gastroenteritis|transmissible porcine gastroenteritis|transmissible porcine Gastroenteritides|Gastroenteritides, swine transmissible|porcine transmissible Gastroenteritides|gastroenteritis, swine transmissible|transmissible gastroenteritis of swine|swine transmissible gastroenteritis|swine transmissible Gastroenteritides|transmissible Gastroenteritides, porcine|transmissible gastroenteritis, porcine|gastroenteritis, transmissible, porcine MONDO:0001471 histoplasmosis meningitis biolink:Disease mondo ICD9:115.91|DOID:12246 An infectious meningitis caused by infection with Histoplasma capsulatum. DOID:12246 http://purl.obolibrary.org/obo/MONDO_0001471 Histoplasma capsulatum caused infectious meningitis|histoplasmosis with meningitis|Histoplasma capsulatum infectious meningitis MONDO:0001470 anal margin squamous cell carcinoma biolink:Disease mondo NCIT:C6925|DOID:12239|SCTID:255084004|ICD10:C44.520|UMLS:C1412037|ICD9:173.5 A squamous cell carcinoma arising from the perianal skin. DOID:12239|SNOMEDCT:255084004|NCIT:C6925|UMLS:C1412037 http://purl.obolibrary.org/obo/MONDO_0001470 anal margin squamous cell carcinoma|squamous cell carcinoma of the anal margin|perianal skin squamous cell carcinoma|squamous cell carcinoma of anal margin MONDO:0013444 nephronophthisis 9 biolink:Disease mondo DOID:0111120|OMIM:613824|UMLS:C3151188 Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. http://identifiers.org/omim/613824|UMLS:C3151188|DOID:0111120 http://purl.obolibrary.org/obo/MONDO_0013444 nephronophthisis 9; NPHP9|nephronophthisis type 9|NEK8 nephronophthisis (disease)|NPHP9|nephronophthisis (disease) caused by mutation in NEK8|nephronophthisis 9 MONDO:0013445 complement component 9 deficiency biolink:Disease mondo DOID:0060303|OMIM:613825|MESH:C565165|ICD10:D84.1|UMLS:C3151189 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene. http://identifiers.org/omim/613825|UMLS:C3151189|MESH:C565165|DOID:0060303 http://purl.obolibrary.org/obo/MONDO_0013445 C9 classic complement early component deficiency|C9 deficiency|complement component 9 deficiency|complement component 9 deficiency; C9D|C9D|classic complement early component deficiency caused by mutation in C9 MONDO:0013442 nephronophthisis 12 biolink:Disease mondo OMIM:613820|DOID:0111119|UMLS:C3151186 Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. http://identifiers.org/omim/613820|UMLS:C3151186|DOID:0111119 http://purl.obolibrary.org/obo/MONDO_0013442 nephronophthisis (disease) caused by mutation in TTC21B|TTC21B nephronophthisis (disease)|NPHP12|nephronophthisis type 12|nephronophthisis 12; NPHP12|Joubert syndrome 11|nephronophthisis 12 clingen MONDO:0013443 Seckel syndrome 5 biolink:Disease mondo OMIM:613823|DOID:0070012|UMLS:C3151187 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene. http://identifiers.org/omim/613823|UMLS:C3151187|DOID:0070012 http://purl.obolibrary.org/obo/MONDO_0013443 Seckel syndrome 5; SCKL5|SCKL5|CEP152 Seckel syndrome|Seckel syndrome type 5|Seckel syndrome caused by mutation in CEP152|Seckel syndrome 5 MONDO:0013448 GEFSP8 biolink:Disease mondo OMIM:613828|UMLS:C3151191 UMLS:C3151191|http://identifiers.org/omim/613828 http://purl.obolibrary.org/obo/MONDO_0013448 GEFSP8|Gefs+, type 8|generalized epilepsy with febrile seizures plus, type 8|generalized epilepsy with febrile seizures plus, type 8; GEFSP8 MONDO:0013449 Leber congenital amaurosis 7 biolink:Disease mondo DOID:0110333|OMIM:613829|UMLS:C3151192|GARD:0010880|ICD10:H35.5 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene. http://identifiers.org/omim/613829|UMLS:C3151192|DOID:0110333 http://purl.obolibrary.org/obo/MONDO_0013449 Leber congenital amaurosis type 7|LCA7|Leber congenital amaurosis 7; LCA7|Leber congenital amaurosis 7|CRX Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in CRX gard_rare HGNC:12009 TPI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12009 MONDO:0013446 Leber congenital amaurosis 6 biolink:Disease mondo GARD:0010490|ICD10:H35.5|MESH:C565327|HGNC:13436|DOID:0110329|OMIM:613826 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene. http://identifiers.org/omim/613826|MESH:C565327|DOID:0110329 http://purl.obolibrary.org/obo/MONDO_0013446 Leber congenital amaurosis caused by mutation in RPGRIP1|Leber congenital amaurosis 6; LCA6|Leber congenital amaurosis 6|Leber congenital amaurosis type 6|LCA6|RPGRIP1 Leber congenital amaurosis gard_rare MONDO:0013447 retinitis pigmentosa 48 biolink:Disease mondo ICD10:H35.5|DOID:0110382|OMIM:613827|UMLS:C3151190 Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene. http://identifiers.org/omim/613827|UMLS:C3151190|DOID:0110382 http://purl.obolibrary.org/obo/MONDO_0013447 GUCA1B retinitis pigmentosa|retinitis pigmentosa 48; RP48|RP48|retinitis pigmentosa caused by mutation in GUCA1B|retinitis pigmentosa type 48|retinitis pigmentosa 48 MONDO:0025419 furunculosis biolink:Disease mondo NCIT:C34629|MESH:D005667 A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida. MESH:D005667|NCIT:C34629 http://purl.obolibrary.org/obo/MONDO_0025419 boils|Furuncles|Furunculoses|furuncle NCBITaxon:37705 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_37705 MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P biolink:Disease mondo Orphanet:280333|OMIM:613818|DOID:0110293|UMLS:C3151184|ICD10:G71.0|GARD:0012541 Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. http://identifiers.org/omim/613818|UMLS:C3151184|DOID:0110293|ORPHA:280333 http://purl.obolibrary.org/obo/MONDO_0013440 limb-girdle muscular dystrophy type 2P|muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related|MDDGC9|muscular dystrophy-dystroglycanopathy (limb-girdle) type C9|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9|LGMD2P|DAG1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9; MDDGC9|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1|muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related|muscular dystrophy, limb-girdle, type 2P ordo_disease MONDO:0013441 asphyxiating thoracic dystrophy 4 biolink:Disease mondo DOID:0110088|OMIM:613819|UMLS:C3151185|ICD10:Q77.2 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. UMLS:C3151185|http://identifiers.org/omim/613819|DOID:0110088 http://purl.obolibrary.org/obo/MONDO_0013441 short-rib thoracic dysplasia 4 with or without polydactyly|SRTD4|short-rib thoracic dysplasia 4 with or without polydactyly; SRTD4|ATD4|asphyxiating thoracic dystrophy type 4|asphyxiating thoracic dystrophy 4 NCBITaxon:11146 Porcine respiratory coronavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11146 porcine respiratory coronavirus PRCV|porcine respiratory virus ENVO:01000355 vegetation layer biolink:OntologyClass mondo A layer which is determined by a form of vegetation. http://purl.obolibrary.org/obo/ENVO_01000355 forest layer|woodland layer|forest stratum|woodland stratum NCBITaxon:11149 Transmissible gastroenteritis virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11149 Porcine transmissable gastroenteritis coronavirus|transmissible gastroenteritis virus TGEV|transmissible gastroenteritis coronavirus|Porcine transmissible gastroenteritis coronavirus|TGEV|porcine transmissible gastroenteritis virus MONDO:0025491 feline infectious peritonitis biolink:Disease mondo MESH:D016766|UMLS:C0085306 Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis. MESH:D016766|UMLS:C0085306 http://purl.obolibrary.org/obo/MONDO_0025491 feline infectious peritonitides|peritonitis, infectious, feline|infectious peritonitis, feline|infectious peritonitides, feline|peritonitis, feline infectious|FIP MONDO:0025494 porcine reproductive and respiratory syndrome biolink:Disease mondo UMLS:C0376538|MESH:D019318 A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048) UMLS:C0376538|MESH:D019318 http://purl.obolibrary.org/obo/MONDO_0025494 porcine epidemic abortion and respiratory syndrome|pig disease, blue-eared|swine infertility and respiratory syndrome|swine disease, mystery|PRRS|blue-eared pig disease|blue eared pig disease|mystery swine disease HGNC:14637 ABCA12 biolink:OntologyClass mondo http://identifiers.org/hgnc/14637 HGNC:14630 CRELD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14630 HGNC:14631 ADAMTSL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14631 MONDO:0025488 leukemia, feline biolink:Disease mondo MESH:D016582|UMLS:C0085164 A neoplastic disease of cats frequently associated with feline leukemia virus infection. MESH:D016582|UMLS:C0085164 http://purl.obolibrary.org/obo/MONDO_0025488 Feline leukemia|leukemias, Feline|Feline leukemias NCBITaxon:11155 Torovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11155 MONDO:0025487 murine acquired immunodeficiency syndrome biolink:Disease mondo MESH:D016183 Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas. MESH:D016183 http://purl.obolibrary.org/obo/MONDO_0025487 murine acquired immuno deficiency syndrome|MAIDS|murine acquired immune deficiency syndrome|murine AIDSs|murine AIDS|AIDS, murine|murine acquired immuno-deficiency syndrome HGNC:26624 KDF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26624 NCBITaxon:11157 Mononegavirales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11157 negative-sense genome single-stranded RNA viruses MONDO:0025489 enzootic bovine leukosis biolink:Disease mondo MESH:D016583|EFO:1001315 A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding. MESH:D016583 http://purl.obolibrary.org/obo/MONDO_0025489 bovine lymphoma|bovine lymphosarcoma|lymphomas, bovine|lymphosarcomas, bovine|leukemias, bovine|bovine Lymphosarcomas|bovine Lymphomas|leukoses, bovine|bovine Leukoses, enzootic|bovine leukemias|leukemia, bovine|bovine Leukoses|leukosis, enzootic bovine|lymphosarcoma, bovine|bovine leukemia|leukosis, bovine|enzootic bovine Leukoses|bovine leukosis, enzootic|lymphoma, bovine|bovine leukosis|leukoses, enzootic bovine NCBITaxon:11158 Paramyxoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11158 ENVO:01000343 altitudinal condition biolink:OntologyClass mondo An altitudinal condition is an environmental condition in which ranges of factors such as temperature, humidity, soil composition, solar irradiation, and tree density vary with ranges in altitude. http://purl.obolibrary.org/obo/ENVO_01000343 ECTO:7000119 exposure to contaminated water biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to contaminated water. http://purl.obolibrary.org/obo/ECTO_7000119 contaminated water exposure GO:1904803 regulation of translation involved in cellular response to UV biolink:OntologyClass mondo Any regulation of translation that is involved in cellular response to UV. http://purl.obolibrary.org/obo/GO_1904803 regulation of protein biosynthesis involved in cellular response to UV|regulation of translation involved in cellular response to ultraviolet radiation stimulus|regulation of protein anabolism involved in cellular response to UV|regulation of translation involved in cellular response to ultraviolet light stimulus|regulation of translation involved in cellular response to UV radiation stimulus|regulation of protein synthesis involved in cellular response to UV|regulation of protein formation involved in cellular response to UV|regulation of translation involved in cellular response to UV light stimulus ECTO:7000114 exposure to aerosol biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to aerosol. http://purl.obolibrary.org/obo/ECTO_7000114 aerosol exposure MONDO:0025481 zoonosis biolink:Disease mondo NCIT:C35803|Wikipedia:Zoonosis|MESH:D015047|UMLS:C0043528 An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc). MESH:D015047|UMLS:C0043528|NCIT:C35803 http://purl.obolibrary.org/obo/MONDO_0025481 infectious diseases, zoonotic|zoonotic infection|disease, zoonotic|zoonoses|zoonotic infectious disease|zoonotic infections|zoonotic infectious diseases|diseases, zoonotic|infectious disease, zoonotic|zoonotic disease|diseases, zoonotic infectious|infection, zoonotic|zoonotic diseases|infections, zoonotic|disease, zoonotic infectious MONDO:0025484 simian acquired immunodeficiency syndrome biolink:Disease mondo MESH:D016097|UMLS:C0080151 Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus. UMLS:C0080151|MESH:D016097 http://purl.obolibrary.org/obo/MONDO_0025484 AIDSs, Simian|Simian immunodeficiency virus monkey disease|Simian acquired immune deficiency syndrome|Simian AIDSs|Simian immunodeficiency virus caused monkey disease|AIDS, Simian|Simian acquired immuno-deficiency syndrome|Simian AIDS|Simian acquired immuno deficiency syndrome|SAIDS MONDO:0025483 mammary neoplasms, animal biolink:Disease mondo MESH:D015674 Tumors or cancer of the mammary gland in animals (mammary glands, animal). MESH:D015674 http://purl.obolibrary.org/obo/MONDO_0025483 animal mammary carcinomas|neoplasms, mammary|mammary neoplasm|carcinoma, animal mammary|mammary neoplasm, animal|mammary carcinoma, animal|mammary neoplasms|neoplasms, animal mammary|mammary carcinomas, animal|animal mammary carcinoma|animal mammary neoplasms|neoplasm, animal mammary|neoplasm, mammary|carcinomas, animal mammary|animal mammary neoplasm MONDO:0025485 feline acquired immunodeficiency syndrome biolink:Disease mondo MESH:D016181|UMLS:C0079335 Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv). MESH:D016181|UMLS:C0079335 http://purl.obolibrary.org/obo/MONDO_0025485 Feline acquired immuno-deficiency syndrome|FAIDS|Feline immunodeficiency virus caused cat disease|Feline acquired immuno deficiency syndrome|Feline AIDS|Feline immunodeficiency virus cat disease|Feline acquired immune deficiency syndrome|AIDS, Feline ENVO:01000342 montane biolink:OntologyClass mondo An altitudinal condition which inheres in a bearer by virtue of the bearer being located at an altitude between mid-altitude forests and the tree line. http://purl.obolibrary.org/obo/ENVO_01000342 NCBITaxon:11152 Turkey coronavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11152 TCV|Turkey enteric coronavirus MONDO:0025478 venereal tumors, veterinary biolink:Disease mondo MESH:D014685|UMLS:C0042465 Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur. UMLS:C0042465|MESH:D014685 http://purl.obolibrary.org/obo/MONDO_0025478 tumors, veterinary venereal|venereal tumor, veterinary|transmissible venereal tumors|tumors, transmissible venereal|veterinary venereal tumor|venereal tumors, transmissible|tumor, transmissible venereal|veterinary venereal tumors|tumor, veterinary venereal|venereal tumor, transmissible|transmissible venereal tumor ECTO:7000122 exposure to sea water biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to sea water. http://purl.obolibrary.org/obo/ECTO_7000122 sea water exposure MONDO:0013499 Fanconi anemia complementation group P biolink:Disease mondo DOID:0111092|OMIM:613951 Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. http://identifiers.org/omim/613951|DOID:0111092 http://purl.obolibrary.org/obo/MONDO_0013499 SLX4 Fanconi anemia|Slx4 Fanconi anemia|Fanconi anemia complementation group type P|Fanconi anemia, complementation group P; FANCP|Fanconi anemia caused by mutation in Slx4|Fanconi anemia caused by mutation in SLX4|Fanconi anemia, complementation group P|FANCP|Fanconi Anemia, complementation group type P MONDO:0013497 Okt4 epitope deficiency biolink:Disease mondo UMLS:C3151379|OMIM:613949 http://identifiers.org/omim/613949|UMLS:C3151379 http://purl.obolibrary.org/obo/MONDO_0013497 T4 epitope deficiency|Okt4 epitope deficiency MONDO:0013498 schizophrenia 15 biolink:Disease mondo UMLS:C3151380|OMIM:613950|DOID:0070091 A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33. DOID:0070091|http://identifiers.org/omim/613950|UMLS:C3151380 http://purl.obolibrary.org/obo/MONDO_0013498 schizophrenia 15 with or without an affective disorder|schizophrenia 15; SCZD15|schizophrenia susceptibility locus, chromosome 22Q13-related|SCZD15|schizophrenia 15|schizophrenia type 15 MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation biolink:Disease mondo UMLS:C3151356|DOID:0080317|OMIM:613926 http://identifiers.org/omim/613926|DOID:0080317|UMLS:C3151356 http://purl.obolibrary.org/obo/MONDO_0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation; MLC2B|MLC2B|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability; MLC2B|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0013492 APMR3 biolink:Disease mondo UMLS:C3151362|OMIM:613930 http://identifiers.org/omim/613930|UMLS:C3151362 http://purl.obolibrary.org/obo/MONDO_0013492 APMR3|alopecia-mental retardation syndrome 3; APMR3|alopecia-mental retardation syndrome 3|alopecia-intellectual disability syndrome 3|alopecia-intellectual disability syndrome 3; APMR3 MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A biolink:Disease mondo UMLS:C3151355|DOID:0080318|OMIM:613925 DOID:0080318|http://identifiers.org/omim/613925|UMLS:C3151355 http://purl.obolibrary.org/obo/MONDO_0013490 MLC2A|megalencephalic leukoencephalopathy with subcortical cysts type 2A|megalencephalic leukoencephalopathy with subcortical cysts 2A; MLC2A|megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0013495 autosomal recessive congenital ichthyosis 8 biolink:Disease mondo DOID:0060717|OMIM:613943|ICD10:Q80.2 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene. DOID:0060717|http://identifiers.org/omim/613943 http://purl.obolibrary.org/obo/MONDO_0013495 lamellar ichthyosis 4|ichthyosis, lamellar, 4|lamellar ichthyosis, late-onset|ichthyosis, congenital, autosomal recessive 8; ARCI8|ichthyosis, congenital, autosomal recessive 8|late-onset lamellar ichthyosis|ARCI8|autosomal recessive congenital ichthyosis type 8|ichthyosis, lamellar, 4, formerly|ichthyosis, congenital, autosomal recessive type 8 MONDO:0013496 IGAN2 biolink:Disease mondo OMIM:613944 http://identifiers.org/omim/613944 http://purl.obolibrary.org/obo/MONDO_0013496 IgA nephropathy, susceptibility to, 2|IgA nephropathy, susceptibility to, 2; IGAN2|IGAN2 predisposition MONDO:0013493 ACACAD biolink:Disease mondo UMLS:C0268603|MESH:C562678|OMIM:613933 MESH:C562678|UMLS:C0268603|http://identifiers.org/omim/613933 http://purl.obolibrary.org/obo/MONDO_0013493 Acc1 deficiency|ACACAD|ACETYL-CoA carboxylase deficiency; ACACAD|ACETYL-CoA carboxylase deficiency|Acaca deficiency MONDO:0013494 obsolete PSMNSW biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013494 NCBITaxon:11135 Feline infectious peritonitis virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11135 FIPV HGNC:26600 WDR81 biolink:OntologyClass mondo http://identifiers.org/hgnc/26600 MONDO:0013488 APLDC3 biolink:Disease mondo UMLS:C3151347|OMIM:613913 http://identifiers.org/omim/613913|UMLS:C3151347 http://purl.obolibrary.org/obo/MONDO_0013488 APLDC3|lipodystrophy, partial, acquired, associated with C3 nephritic Factor|lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis; APLDC3|lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis MONDO:0013489 autosomal recessive nonsyndromic deafness 89 biolink:Disease mondo DOID:0110534|OMIM:613916|UMLS:C3151351|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene. http://identifiers.org/omim/613916|UMLS:C3151351|DOID:0110534 http://purl.obolibrary.org/obo/MONDO_0013489 KARS autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 89|deafness, autosomal recessive 89; DFNB89|deafness, autosomal recessive 89|autosomal recessive nonsyndromic deafness type 89|DFNB89|autosomal recessive deafness 89|autosomal recessive nonsyndromic deafness caused by mutation in KARS clingen MONDO:0013486 spinocerebellar ataxia type 32 biolink:Disease mondo SCTID:719254001|ICD10:G11.8|UMLS:C4304844|Orphanet:276183|UMLS:C3151343|OMIM:613909 Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males. UMLS:C3151343|UMLS:C4304844|ORPHA:276183|SNOMEDCT:719254001|http://identifiers.org/omim/613909 http://purl.obolibrary.org/obo/MONDO_0013486 SCA32|spinocerebellar ataxia 32|cerebellar ataxia with azoospermia and intellectual disability|spinocerebellar ataxia 32; SCA32 ordo_disease MONDO:0013487 recurrent Neisseria infections due to factor D deficiency biolink:Disease mondo UMLS:C0398764|MESH:C565027|ICD9:279.8|SCTID:234607008|OMIM:613912|ICD10:D84.1|Orphanet:169467 MESH:C565027|UMLS:C0398764|SNOMEDCT:234607008|ORPHA:169467|http://identifiers.org/omim/613912 http://purl.obolibrary.org/obo/MONDO_0013487 CFDD|complement factor D deficiency|factor D deficiency|complement factor D deficiency; CFDD ordo_disease HGNC:14628 CDCA7 biolink:OntologyClass mondo http://identifiers.org/hgnc/14628 MONDO:0013480 renal hypomagnesemia 6 biolink:Disease mondo GARD:0012155|OMIM:613882|ICD10:E83.4|UMLS:C3151295|DOID:0060884 DOID:0060884|http://identifiers.org/omim/613882|UMLS:C3151295 http://purl.obolibrary.org/obo/MONDO_0013480 HOMG6|hypomagnesemia 6, renal|hypomagnesemia 6, renal; HOMG6|renal hypomagnesemia-6|renal hypomagnesemia type 6 gard_rare MONDO:0013481 chromosome 13q14 deletion syndrome biolink:Disease mondo ICD10:Q93.5|OMIM:613884|NCIT:C36421|MESH:C535484|DOID:0060391|Orphanet:1587 Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. MESH:C535484|DOID:0060391|NCIT:C36421|http://identifiers.org/omim/613884|ORPHA:1587 http://purl.obolibrary.org/obo/MONDO_0013481 chromosome 13q14 deletion syndrome|monosomy type 13q14|monosomy 13q14|chromosome 13Q deletion syndrome|deletion 13q14|del(13q14)|Del(13)(q14) ordo_malformation_syndrome MONDO:0013484 cataract 36 biolink:Disease mondo DOID:0110247|UMLS:C3151304|OMIM:613887 Any cataract in which the cause of the disease is a mutation in the TDRD7 gene. DOID:0110247|http://identifiers.org/omim/613887|UMLS:C3151304 http://purl.obolibrary.org/obo/MONDO_0013484 cataract type 36|cataract 36; CTRCT36|cataract 36|cataract (disease) caused by mutation in TDRD7|cataract, autosomal recessive congenital 4|autosomal recessive congenital cataract 4|TDRD7 cataract (disease)|CTRCT36|CATC4 MONDO:0013485 spinocerebellar ataxia type 35 biolink:Disease mondo UMLS:CN202597|GARD:0012366|DOID:0050982|SCTID:719300001|ICD10:G11.8|UMLS:C4304822|Orphanet:276193|OMIM:613908 Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. UMLS:C4304822|DOID:0050982|ORPHA:276193|SNOMEDCT:719300001|UMLS:CN202597|http://identifiers.org/omim/613908 http://purl.obolibrary.org/obo/MONDO_0013485 SCA35|spinocerebellar ataxia 35|spinocerebellar ataxia type 35|spinocerebellar ataxia 35; SCA35 ordo_disease MONDO:0013482 Meckel syndrome, type 8 biolink:Disease mondo UMLS:C3836857|DOID:0070122|ICD10:Q61.9|OMIM:613885 Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. DOID:0070122|UMLS:C3836857|http://identifiers.org/omim/613885 http://purl.obolibrary.org/obo/MONDO_0013482 Meckel syndrome 8|Meckel syndrome caused by mutation in TCTN2|Meckel-Gruber syndrome, type 8|MKS8|Meckel syndrome, type 8|TCTN2 Meckel syndrome|Meckel syndrome, type 8; MKS8 CL:0000393 electrically responsive cell biolink:Cell mondo A cell whose function is determined by its response to an electric signal. http://purl.obolibrary.org/obo/CL_0000393 MONDO:0013483 obesity, hyperphagia, and developmental delay biolink:Disease mondo MESH:C563938|UMLS:C3151303|OMIM:613886 MESH:C563938|http://identifiers.org/omim/613886|UMLS:C3151303 http://purl.obolibrary.org/obo/MONDO_0013483 OBHD|obesity, hyperphagia, and developmental delay; OBHD|obesity, hyperphagia, and developmental delay MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma biolink:Disease mondo UMLS:C1333405|DOID:6606|NCIT:C27889 NCIT:C27889|UMLS:C1333405|DOID:6606 http://purl.obolibrary.org/obo/MONDO_0003942 eosinophilic variant of chromophobe renal cell carcinoma MONDO:0003943 central nervous system hibernoma biolink:Disease mondo UMLS:C1708362|DOID:6607|NCIT:C6997 A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system. NCIT:C6997|DOID:6607|UMLS:C1708362 http://purl.obolibrary.org/obo/MONDO_0003943 hibernoma of central nervous system|hibernoma of the central nervous system|central nervous system hibernoma|nervous system hibernoma|hibernoma of nervous system MONDO:0003944 endobronchial leiomyoma biolink:Disease mondo NCIT:C5661|UMLS:C1333386|DOID:6608 A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C5661|UMLS:C1333386|DOID:6608 http://purl.obolibrary.org/obo/MONDO_0003944 bronchus lung leiomyoma|lung leiomyoma of bronchus|endobronchial leiomyoma MONDO:0003945 bone epithelioid hemangioma biolink:Disease mondo EFO:1000132|DOID:6610|UMLS:C1332578|UMLS:C1332575|NCIT:C5396 A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells. NCIT:C5396|DOID:6610|UMLS:C1332575|UMLS:C1332578 http://purl.obolibrary.org/obo/MONDO_0003945 bone hemangioma|osseous epithelioid hemangioma|epithelioid angioma of bone|epithelioid angioma of the bone|osseous hemangioma|epithelioid hemangioma of bone|epithelioid hemangioma of the bone|bone epithelioid hemangioma|osseous epithelioid angioma|hemangioma of bone|bone epithelioid angioma NCBITaxon:156300 Chaetothyriales incertae sedis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_156300 MONDO:0003940 Kummell disease biolink:Disease mondo UMLS:C0152088|SCTID:111232005|ICD10:M48.3|COHD:81665|ICD9:721.7|DOID:6603 Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. UMLS:C0152088|DOID:6603|SNOMEDCT:111232005 http://purl.obolibrary.org/obo/MONDO_0003940 traumatic spondylopathy|bony vertebral centrum osteonecrosis|Kummell's disease|Kummell's spondylitis|avascular necrosis of a vertebral body|Kummell disease|osteonecrosis of bony vertebral centrum MONDO:0003941 classic variant of chromophobe renal cell carcinoma biolink:Disease mondo NCIT:C27888|DOID:6605|UMLS:C1333062 NCIT:C27888|UMLS:C1333062|DOID:6605 http://purl.obolibrary.org/obo/MONDO_0003941 classic variant of chromophobe renal cell carcinoma MONDO:0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease biolink:Disease mondo Orphanet:182104|UMLS:CN200522 UMLS:CN200522|ORPHA:182104 http://purl.obolibrary.org/obo/MONDO_0015928 secondary ILD in childhood and adulthood associated with a connective tissue disease|CTD-ILD ordo_group_of_disorders HP:0000998 Hypertrichosis biolink:PhenotypicFeature mondo UMLS:C0020555|SNOMEDCT_US:29966009|MSH:D006983|SNOMEDCT_US:271607001 Hypertrichosis is increased hair growth that is abnormal in quantity or location. http://purl.obolibrary.org/obo/HP_0000998 Excessive hair growth|Increased hair growth on body MONDO:0015927 idiopathic eosinophilic pneumonia biolink:Disease mondo SCTID:708031000|ICD10:J82|UMLS:C3872845|Orphanet:182101 SNOMEDCT:708031000|UMLS:C3872845|ORPHA:182101 http://purl.obolibrary.org/obo/MONDO_0015927 ordo_group_of_disorders UBERON:0010143 seminal vesicle fluid biolink:AnatomicalEntity mondo A bodily secretion that is produced by a seminal vesicle. http://purl.obolibrary.org/obo/UBERON_0010143 seminal vesicle secretion|vesicular fluid|secretion of seminal vesicle|seminal fluid MONDO:0015926 pneumoconiosis biolink:Disease mondo Orphanet:182098|ICD9:505|DOID:10316|UMLS:C0032273|SCTID:40122008|NCIT:C26861|GARD:0008356|COHD:259044|MedDRA:10035653|ICD10:J64|MESH:D011009 An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis. MEDDRA:10035653|MESH:D011009|DOID:10316|NCIT:C26861|UMLS:C0032273|ORPHA:182098|SNOMEDCT:40122008 http://purl.obolibrary.org/obo/MONDO_0015926 Black lung disease|coal worker's pneumoconiosis ordo_group_of_disorders MONDO:0015925 interstitial lung disease biolink:Disease mondo GARD:0013336|Orphanet:182095|EFO:0004244|MESH:D017563|SCTID:233703007|MedDRA:10022611|COHD:4119786|ICD10:J84.9|DOID:3082|UMLS:C0206062 A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. DOID:3082|MEDDRA:10022611|SNOMEDCT:233703007|MESH:D017563|ORPHA:182095|UMLS:C0206062 http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease|ILD ordo_group_of_disorders UBERON:0010141 primitive sex cord of indifferent gonad biolink:AnatomicalEntity mondo A sex cord that is part of a indifferent gonad. http://purl.obolibrary.org/obo/UBERON_0010141 indifferent sex cord|primitive sex cords HP:0000999 Pyoderma biolink:PhenotypicFeature mondo MSH:D011711|SNOMEDCT_US:70759006|UMLS:C0034212 Any manifestation of a skin disease associated with the production of pus. http://purl.obolibrary.org/obo/HP_0000999 Pus-filled lesion UBERON:0010146 paraurethral duct biolink:AnatomicalEntity mondo The Skene's ducts are a pair of ducts leading from the Skene's glands to the surface of the vulva, to the left and right of the urethral opening. http://purl.obolibrary.org/obo/UBERON_0010146 duct of paraurethral gland|female prostate duct|duct of Skene's gland|periurethral duct|ductus paraurethrales urethrae femininae|Skene's duct|paraurethral gland duct UBERON:0010147 male accessory sex gland biolink:AnatomicalEntity mondo Any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and vesicular glands of the male. http://purl.obolibrary.org/obo/UBERON_0010147 male accessory gland|male accessory reproductive gland UBERON:0010145 paraurethral gland biolink:AnatomicalEntity mondo the numerous mucous-secreting glands found in several female mammalian species (including rodents and humans) on the anterior wall of the vagina, around the lower end of the urethra, and possessing a common paraurethral duct which opens (on each side) near the external urethral orifice; they are homologous with the prostate gland in males, have highly variable anatomy, and are believed to be the source of the female ejaculate, a lubricating fluid with a similar consistency to male prostatic fluid that is expelled through the urethra during sexual stimulation; like the male prostate, these glands are susceptible to infection (skenitis), cyst development, and cancer http://purl.obolibrary.org/obo/UBERON_0010145 female urethral gland|urethral gland of clitoral urethra|Guerin's gland|female prostate|glandula vestibulares minor|Skene gland|U-spot|Skene's gland of clitoral urethra|female urethral gland|Skene's gland|glandulae vestibulares minores|para-urethral gland|periurethral gland|Schueller's gland MONDO:0015929 thoracic malformation biolink:Disease mondo Orphanet:182108 ORPHA:182108 http://purl.obolibrary.org/obo/MONDO_0015929 ordo_group_of_disorders MONDO:0015931 obsolete rare urogenital tumor biolink:Disease mondo UMLS:CN200523|Orphanet:182114 ORPHA:182114|UMLS:CN200523 http://purl.obolibrary.org/obo/MONDO_0015931 ordo_group_of_disorders|obsoletion_candidate MONDO:0015930 respiratory malformation biolink:Disease mondo Orphanet:182111 ORPHA:182111 http://purl.obolibrary.org/obo/MONDO_0015930 ordo_group_of_disorders HP:0000992 Cutaneous photosensitivity biolink:PhenotypicFeature mondo MSH:D010787|SNOMEDCT_US:90128006|UMLS:C0349506 An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. http://purl.obolibrary.org/obo/HP_0000992 Sensitivity to sunlight|Photosensitivity|Sun sensitivity|Photosensitive skin rashes|Photosensitive skin|Skin photosensitivity hposlim_core HGNC:7448 MTM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7448 HP:0000991 Xanthomatosis biolink:PhenotypicFeature mondo UMLS:C0043325|MSH:D014973|SNOMEDCT_US:63103006 The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. http://purl.obolibrary.org/obo/HP_0000991 Yellow bumps of fatty deposits on skin|Xanthomata NCBITaxon:50557 Insecta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_50557 true insects MONDO:0015935 extragonadal germinoma biolink:Disease mondo Orphanet:182127|MedDRA:10018207 UMLS:C0206660|MESH:D018237|ORPHA:182127|MEDDRA:10018207 http://purl.obolibrary.org/obo/MONDO_0015935 ordo_disease MONDO:0015934 non-syndromic urogenital tract malformation of male and female biolink:Disease mondo Orphanet:182124 ORPHA:182124 http://purl.obolibrary.org/obo/MONDO_0015934 isolated urogenital tract malformation of male and female|nonsyndromic urogenital tract malformation of male and female ordo_group_of_disorders MONDO:0015933 non-syndromic urogenital tract malformation of male biolink:Disease mondo Orphanet:182121 A non-syndromic urogenital tract malformation that involves the male organism. ORPHA:182121 http://purl.obolibrary.org/obo/MONDO_0015933 non-syndromic urogenital tract malformation of male organism|nonsyndromic urogenital tract malformation of male|male organism non-syndromic urogenital tract malformation|isolated urogenital tract malformation of male ordo_group_of_disorders MONDO:0015932 non-syndromic urogenital tract malformation of female biolink:Disease mondo Orphanet:182117 A non-syndromic urogenital tract malformation that involves the female organism. ORPHA:182117 http://purl.obolibrary.org/obo/MONDO_0015932 isolated urogenital tract malformation of female|nonsyndromic urogenital tract malformation of female|female organism non-syndromic urogenital tract malformation|non-syndromic urogenital tract malformation of female organism ordo_group_of_disorders MONDO:0003939 muscle tissue disease biolink:Disease mondo DOID:66 A disease involving the muscle tissue. DOID:66 http://purl.obolibrary.org/obo/MONDO_0003939 disease or disorder of muscle tissue|disease of muscle tissue|muscle tissue disease or disorder|disorder of muscle tissue|muscle tissue disease|disorder of muscle tissue MONDO:0003935 oncocytic breast carcinoma biolink:Disease mondo NCIT:C40366|DOID:6585|UMLS:C1518574 A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population. UMLS:C1518574|NCIT:C40366|DOID:6585 http://purl.obolibrary.org/obo/MONDO_0003935 oncocytic breast carcinoma MONDO:0003936 invasive tubular breast carcinoma biolink:Disease mondo UMLS:C1328544|NCIT:C9135|DOID:6587 An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium. NCIT:C9135|DOID:6587|UMLS:C1328544 http://purl.obolibrary.org/obo/MONDO_0003936 invasive tubular carcinoma of the breast|invasive tubular breast carcinoma|invasive tubular carcinoma of breast|tubular carcinoma of the breast|tubular breast cancer|breast tubular adenocarcinoma|infiltrating tubular carcinoma of breast|infiltrating tubular carcinoma of the breast|tubular carcinoma of breast|infiltrating tubular breast carcinoma|tubular breast carcinoma MONDO:0003937 spondylitis biolink:Disease mondo MESH:D013166|ICD9:720.89|ICD9:720.8|SCTID:84172003|NCIT:C116779|ICD10:M46|DOID:6590 The inflammation of a vertebra. NCIT:C116779|SNOMEDCT:84172003|MESH:D013166|DOID:6590 http://purl.obolibrary.org/obo/MONDO_0003937 vertebra inflammation|inflammation of vertebra MONDO:0003938 bladder colonic type adenocarcinoma biolink:Disease mondo UMLS:C1511188|DOID:6594|NCIT:C39835 UMLS:C1511188|NCIT:C39835|DOID:6594 http://purl.obolibrary.org/obo/MONDO_0003938 bladder enteric type adenocarcinoma|bladder colonic type adenocarcinoma MONDO:0003953 pediatric CNS choriocarcinoma biolink:Disease mondo UMLS:C1377604|DOID:6639|NCIT:C6206 A choriocarcinoma that arises from the central nervous system and occurs during childhood. UMLS:C1377604|DOID:6639|NCIT:C6206 http://purl.obolibrary.org/obo/MONDO_0003953 choriocarcinoma of the pediatric central nervous system|choriocarcinoma of the central nervous system of childhood|choriocarcinoma of pediatric central nervous system|childhood choriocarcinoma of the central nervous system|childhood CNS choriocarcinoma|childhood central nervous system choriocarcinoma|choriocarcinoma of the pediatric CNS|choriocarcinoma of pediatric CNS|pediatric central nervous system choriocarcinoma|choriocarcinoma of childhood central nervous system|choriocarcinoma of the childhood central nervous system|Central nervous system choriocarcinoma|pediatric choriocarcinoma of the central nervous system|choriocarcinoma of the childhood CNS|pediatric choriocarcinoma of the central nervous system|choriocarcinoma of childhood CNS MONDO:0003954 angiokeratoma of Fordyce biolink:Disease mondo DOID:664|SCTID:6331000|UMLS:C0263639 An angiokeratoma that is located on the scrotum or vulva. UMLS:C0263639|SNOMEDCT:6331000|DOID:664 http://purl.obolibrary.org/obo/MONDO_0003954 Fordyce angiokeratoma|Fordyce's spot|Fordyce-type angiokeratoma of scrotum MONDO:0003955 juvenile breast papillomatosis biolink:Disease mondo DOID:6641|SCTID:708518001|NCIT:C9503|UMLS:C1334303 A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present. SNOMEDCT:708518001|UMLS:C1334303|DOID:6641|NCIT:C9503 http://purl.obolibrary.org/obo/MONDO_0003955 juvenile papillomatosis of breast|Swiss cheese disease|breast juvenile papillomatosis|juvenile papillomatosis of the breast|juvenile breast papillomatosis MONDO:0003956 Baastrup syndrome biolink:Disease mondo DOID:6643|ICD10:M48.20|COHD:75908|UMLS:C0158248|ICD9:721.5|SCTID:82304009|ICD10:M48.2 DOID:6643|UMLS:C0158248|SNOMEDCT:82304009 http://purl.obolibrary.org/obo/MONDO_0003956 Baastrup's syndrome|kissing spine|Baastrup syndrome MONDO:0003950 nipple carcinoma biolink:Disease mondo DOID:6629|UMLS:C1334966|NCIT:C28432 A carcinoma that arises from epithelial cells of the nipple UMLS:C1334966|DOID:6629|NCIT:C28432 http://purl.obolibrary.org/obo/MONDO_0003950 nipple cancer|nipple carcinoma|carcinoma of nipple MONDO:0003951 scrotal hemangioma biolink:Disease mondo DOID:663|NCIT:C6387|UMLS:C1335936 A hemangioma arising from the skin of the scrotum. UMLS:C1335936|DOID:663|NCIT:C6387 http://purl.obolibrary.org/obo/MONDO_0003951 scrotum hemangioma|hemangioma of scrotum|scrotal angioma|hemangioma of the scrotum|angioma of the scrotum|angioma of scrotum|scrotal hemangioma MONDO:0003952 adult central nervous system choriocarcinoma biolink:Disease mondo NCIT:C5793|DOID:6634|UMLS:C1370505 A choriocarcinoma of the central nervous system that occurs in an adult. UMLS:C1370505|NCIT:C5793|DOID:6634 http://purl.obolibrary.org/obo/MONDO_0003952 adult choriocarcinoma of the central nervous system|choriocarcinoma of the adult CNS|Central nervous system choriocarcinoma|choriocarcinoma of adult CNS|choriocarcinoma of adult central nervous system|choriocarcinoma of the adult central nervous system|adult CNS choriocarcinoma|choriocarcinoma of the central nervous system of adults|adult central nervous system choriocarcinoma UBERON:0009141 craniocervical region vein biolink:AnatomicalEntity mondo A vein that is part of a craniocervical region. http://purl.obolibrary.org/obo/UBERON_0009141 vein of head and neck|craniocervical vein|head and neck veins HGNC:26703 SYNE4 biolink:OntologyClass mondo http://identifiers.org/hgnc/26703 UBERON:0010131 conducting tissue of heart biolink:AnatomicalEntity mondo Any portion of cardiac muscle tissue that is part of the conducting system of heart or the Purkinje fibers. http://purl.obolibrary.org/obo/UBERON_0010131 specialized conducting tissue of heart|specialized muscle tissue of heart MONDO:0015917 malignant glioma biolink:Disease mondo NCIT:C4822|ICDO:9380/3|Orphanet:182067|UMLS:C0555198|OMIMPS:137800|KEGG:05214|DOID:3070|MedDRA:10018338 A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma. MEDDRA:10018338|DOID:3070|NCIT:C4822|ORPHA:182067|UMLS:C0555198 http://purl.obolibrary.org/obo/MONDO_0015917 neuroglial tumor|malignant glial tumor|malignant glial neoplasm|glioma|malignant neuroglial tumor|high grade glioma|glial cell tumor|high-grade glioma|malignant neuroglial neoplasm|malignant glioma|glioma, malignant ordo_group_of_disorders MONDO:0015916 rare neuroinflammatory or neuroimmunological disease biolink:Disease mondo Orphanet:182064|UMLS:CN200514 UMLS:CN200514|ORPHA:182064 http://purl.obolibrary.org/obo/MONDO_0015916 ordo_group_of_disorders|obsoletion_candidate HP:0010311 Aplasia/Hypoplasia of the breasts biolink:PhenotypicFeature mondo UMLS:C4023911 Absence or underdevelopment of the breasts. http://purl.obolibrary.org/obo/HP_0010311 Absent/small breasts|Absent/underdeveloped breasts MONDO:0015915 cerebellar malformation biolink:Disease mondo Orphanet:182061 ORPHA:182061 http://purl.obolibrary.org/obo/MONDO_0015915 ordo_group_of_disorders UBERON:0010130 embryonic autopod plate biolink:AnatomicalEntity mondo The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) http://purl.obolibrary.org/obo/UBERON_0010130 autopod plate|limb plate MONDO:0015914 primary orthostatic hypotension biolink:Disease mondo GARD:0012959|Orphanet:182058 Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication. ORPHA:182058 http://purl.obolibrary.org/obo/MONDO_0015914 neurogenic orthostatic hypotension ordo_group_of_disorders|gard_rare UBERON:0010135 sensory circumventricular organ biolink:AnatomicalEntity mondo A circumventricular organ that is capable of monitoring the levels of substances to the cerebrospinal fluid. http://purl.obolibrary.org/obo/UBERON_0010135 humerosensory system organ|sensory circumventricular organs|humerosensory system|humerosensory circumventricular organ|sensitive circumventricular organs|sensitive organs|sensory CVOs MONDO:0015919 syndromic neurometabolic disease with non-X-linked intellectual disability biolink:Disease mondo Orphanet:182073|UMLS:CN200517 UMLS:CN200517|ORPHA:182073 http://purl.obolibrary.org/obo/MONDO_0015919 ordo_group_of_disorders UBERON:0010133 neuroendocrine gland biolink:AnatomicalEntity mondo any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine system gland UBERON:0010134 secretory circumventricular organ biolink:AnatomicalEntity mondo A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. http://purl.obolibrary.org/obo/UBERON_0010134 MONDO:0015918 obsolete rare neurodegenerative disease biolink:Disease mondo Orphanet:182070 Rare neurodegenerative disease. ORPHA:182070 http://purl.obolibrary.org/obo/MONDO_0015918 rare neurodegenerative disease obsoletion_candidate|ordo_group_of_disorders MONDO:0015920 syndromic neurometabolic disease with X-linked intellectual disability biolink:Disease mondo UMLS:CN200518|Orphanet:182076 ORPHA:182076|UMLS:CN200518 http://purl.obolibrary.org/obo/MONDO_0015920 ordo_group_of_disorders UBERON:0010129 femur cartilage element biolink:AnatomicalEntity mondo A femur endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010129 femoral cartilage condensation HGNC:7456 MT-ND2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7456 HGNC:7459 MT-ND4 biolink:OntologyClass mondo http://identifiers.org/hgnc/7459 HGNC:7458 MT-ND3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7458 MONDO:0015924 pulmonary arterial hypertension biolink:Disease mondo GARD:0007501|MedDRA:10064911|UMLS:CN200519|UMLS:C2973725|Orphanet:182090|SCTID:11399002 Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). MEDDRA:10064911|SNOMEDCT:11399002|UMLS:C2973725|UMLS:C0152171|ORPHA:182090|MESH:C536282|UMLS:CN200519 http://purl.obolibrary.org/obo/MONDO_0015924 PAH|idiopathic pulmonary hypertension|PPH ordo_group_of_disorders HP:0010316 Ebstein anomaly of the tricuspid valve biolink:PhenotypicFeature mondo EPCC:06.01.34|UMLS:C0013481|SNOMEDCT_US:204357006|ICD-10:Q22.5|MSH:D004437 Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. http://purl.obolibrary.org/obo/HP_0010316 Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve|Ebstein's malformation MONDO:0015923 acquired peripheral neuropathy biolink:Disease mondo Orphanet:182086 An instance of peripheral neuropathy that is acquired during the lifetime of the individual. ORPHA:182086 http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy ordo_group_of_disorders MONDO:0015922 channelopathy with epilepsy biolink:Disease mondo Orphanet:182083 ORPHA:182083 http://purl.obolibrary.org/obo/MONDO_0015922 ordo_group_of_disorders MONDO:0015921 ARX-related epileptic encephalopathy biolink:Disease mondo Orphanet:182079 ORPHA:182079 http://purl.obolibrary.org/obo/MONDO_0015921 ordo_group_of_disorders UBERON:0009142 entire embryonic mesenchyme biolink:AnatomicalEntity mondo Sum total of mesenchyme in the embryo. http://purl.obolibrary.org/obo/UBERON_0009142 UBERON:0009145 pharyngeal region of foregut biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009145 pharyngeal region HGNC:7450 MTMR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7450 MONDO:0003946 vaginal villous adenoma biolink:Disease mondo NCIT:C40259|UMLS:C1519936|DOID:6613 An adenoma that arises from the vagina and is characterized by a villous architectural pattern. UMLS:C1519936|NCIT:C40259|DOID:6613 http://purl.obolibrary.org/obo/MONDO_0003946 vaginal villous adenoma|vagina villous adenoma MONDO:0003947 hyper-IgM syndrome biolink:Disease mondo NCIT:C3990|MESH:D053306|ICD9:279.05|COHD:432287|OMIMPS:308230|Wikidata:Q1617658|SCTID:82286005|UMLS:C0272236|DC:0000222 A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. MESH:D053306|UMLS:C0272236|NCIT:C3990|SNOMEDCT:82286005 http://purl.obolibrary.org/obo/MONDO_0003947 hyperimmunoglobulin M syndrome|immunodeficiency with hyper-IgM NCBITaxon:37567 Ditrysia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_37567 MONDO:0003948 cerebral hemangioma biolink:Disease mondo DOID:6621|UMLS:C0877388|NCIT:C5433 A hemangioma arising from the cerebral hemisphere. UMLS:C0877388|NCIT:C5433|DOID:6621 http://purl.obolibrary.org/obo/MONDO_0003948 hemangioma of cerebrum|telencephalon hemangioma|cerebral hemangioma|cerebral angioma|hemangioma of telencephalon|cerebral hemispheric angioma|cerebral hemispheric hemangioma|hemangioma of cerebral hemispheres|angioma of cerebral hemispheres|angioma of cerebrum|angioma of the cerebrum|angioma of the cerebral hemispheres|hemangioma of the cerebrum|hemangioma of the cerebral hemispheres HGNC:7455 MT-ND1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7455 MONDO:0003949 obsolete cervical adenoma malignum biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003949 MONDO:0003920 obsolete gastric small cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003920 stomach small cell carcinoma MONDO:0003921 posterior foramen magnum meningioma biolink:Disease mondo UMLS:C1335449|NCIT:C5282|DOID:6553 A meningioma that affects the posterior foramen magnum. NCIT:C5282|UMLS:C1335449|DOID:6553 http://purl.obolibrary.org/obo/MONDO_0003921 meningioma of the posterior Foramen magnum|meningioma of posterior Foramen magnum MONDO:0003922 ovarian clear cell malignant adenofibroma biolink:Disease mondo UMLS:C2075522|DOID:6554|ICDO:8313/3|NCIT:C40079 A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma. NCIT:C40079|UMLS:C2075522|DOID:6554 http://purl.obolibrary.org/obo/MONDO_0003922 ovarian clear cell adenocarcinofibroma|ovarian clear cell malignant adenofibroma MONDO:0003923 ethmoid sinus Schneiderian papilloma biolink:Disease mondo DOID:6559|NCIT:C6836|UMLS:C1333476 A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma. NCIT:C6836|UMLS:C1333476|DOID:6559 http://purl.obolibrary.org/obo/MONDO_0003923 Schneiderian papilloma of the ethmoid sinus|ethmoid sinus Schneiderian papilloma|Schneiderian papilloma of ethmoid sinus MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism biolink:Disease mondo Orphanet:181441|UMLS:CN226785 UMLS:CN226785|ORPHA:181441 http://purl.obolibrary.org/obo/MONDO_0015906 rare disorder with primary hypogonadism ordo_group_of_disorders|obsoletion_candidate MONDO:0015905 syndromic dyslipidemia biolink:Disease mondo UMLS:C3875286|SCTID:109041000119107|Orphanet:181437 A inherited lipid metabolism disorder that is part of a larger syndrome. SNOMEDCT:109041000119107|UMLS:C3875286|ORPHA:181437 http://purl.obolibrary.org/obo/MONDO_0015905 complex dyslipidemia|syndrome associated with inherited lipid metabolism disorder|rare syndromic dyslipidemia|syndromic inherited lipid metabolism disorder|syndrome associated with inherited lipid metabolism disorder ordo_group_of_disorders HP:0000975 Hyperhidrosis biolink:PhenotypicFeature mondo SNOMEDCT_US:364538006|SNOMEDCT_US:415690000|SNOMEDCT_US:415691001|UMLS:C0038990|SNOMEDCT_US:161857006|SNOMEDCT_US:312230002|UMLS:C0020458|MSH:D013546|SNOMEDCT_US:52613005|MSH:D006945|UMLS:C0700590|MEDDRA:10020642 Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. http://purl.obolibrary.org/obo/HP_0000975 Sweating, increased|Profuse sweating|Excessive sweating|Sweating|Increased sweating|Sweating profusely|Diaphoresis hposlim_core HP:0010301 Spinal dysraphism biolink:PhenotypicFeature mondo UMLS:C0027794|SNOMEDCT_US:253098009|MSH:D009436 A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. http://purl.obolibrary.org/obo/HP_0010301 Incomplete closure of the vertebral arch MONDO:0015904 obsolete rare hypolipidemia biolink:Disease mondo Orphanet:181431|UMLS:CN226783 ORPHA:181431|UMLS:CN226783 http://purl.obolibrary.org/obo/MONDO_0015904 ordo_group_of_disorders|obsoletion_candidate HP:0000978 Bruising susceptibility biolink:PhenotypicFeature mondo SNOMEDCT_US:302227002|UMLS:C0423798|SNOMEDCT_US:424131007|SNOMEDCT_US:425075004|UMLS:C0013491|SNOMEDCT_US:77643000|MSH:D004438 An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. http://purl.obolibrary.org/obo/HP_0000978 Bruisability|Easy bruising|Bruise easily|Easy bruisability|Bruising susceptibility MONDO:0015903 hyperalphalipoproteinemia biolink:Disease mondo ICD9:272.4|SCTID:238080004|ICD10:E78.4|Orphanet:181428|NCIT:C128806|UMLS:C0342883 An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease. ORPHA:181428|NCIT:C128806|UMLS:C0342883|SNOMEDCT:238080004 http://purl.obolibrary.org/obo/MONDO_0015903 HALP1 ordo_group_of_disorders MONDO:0015909 aplastic anemia biolink:Disease mondo ICD10:D61.3|COHD:137829|NCIT:C2870|ICD10:D61.0|ICD9:284.9|ICD10:D61.2|ICD10:D61.1|SCTID:306058006|DOID:12449|Orphanet:182040|MESH:D000741|ICD10:D61.9|ICD9:284.8|ICD10:D61.8 Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. ORPHA:182040|NCIT:C2870|MESH:D000741|DOID:12449|SNOMEDCT:306058006 http://purl.obolibrary.org/obo/MONDO_0015909 ordo_group_of_disorders HP:0000979 Purpura biolink:PhenotypicFeature mondo SNOMEDCT_US:423902002|SNOMEDCT_US:387778001|UMLS:C0034150|SNOMEDCT_US:12393003|MSH:D011693 Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. http://purl.obolibrary.org/obo/HP_0000979 Red or purple spots on the skin|Blood spots hposlim_core UBERON:0010125 future superior salivatory nucleus biolink:AnatomicalEntity mondo A gray matter that has the potential to develop into a superior salivatory nucleus. http://purl.obolibrary.org/obo/UBERON_0010125 MONDO:0015908 chromomycosis biolink:Disease mondo ICD10:B43.2|ICD10:B43.1|MedDRA:10008803|ICD10:B43.0|DOID:1562|Orphanet:182|ICD9:117.2|SCTID:187079000|EFO:0007207|ICD10:B43.9|UMLS:C0008582|ICD10:B43.8|MESH:D002862|GARD:0001319|COHD:437796|UMLS:C3245522 Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa. MEDDRA:10008803|MESH:D002862|ORPHA:182|SNOMEDCT:187079000|UMLS:C0008582|DOID:1562|UMLS:C3245522 http://purl.obolibrary.org/obo/MONDO_0015908 Chromoblastomycoses|mossy foot disease|chromoblastomycosis|Chromomycosis|chromomycosis|Chromomycoses|dermatitis Verrucosa ordo_disease MONDO:0015907 epimetaphyseal skeletal dysplasia biolink:Disease mondo ICD10:Q77.8|Orphanet:1819|GARD:0002176 ORPHA:1819 http://purl.obolibrary.org/obo/MONDO_0015907 gard_rare|ordo_malformation_syndrome UBERON:0010123 future facial nucleus biolink:AnatomicalEntity mondo A gray matter that has the potential to develop into a facial nucleus. http://purl.obolibrary.org/obo/UBERON_0010123 HGNC:7468 MTR biolink:OntologyClass mondo http://identifiers.org/hgnc/7468 HGNC:7467 MTTP biolink:OntologyClass mondo http://identifiers.org/hgnc/7467 HP:0000970 Anhidrosis biolink:PhenotypicFeature mondo SNOMEDCT_US:39659002|MSH:D007007|SNOMEDCT_US:14662005|UMLS:C0003028|MEDDRA:10002512 Inability to sweat. http://purl.obolibrary.org/obo/HP_0000970 Sudomotor dysfunction|Lack of sweating|Sweating dysfunction|Anhydrosis hposlim_core HP:0010307 Stridor biolink:PhenotypicFeature mondo UMLS:C0237304|SNOMEDCT_US:248573009|SNOMEDCT_US:70407001|UMLS:C0038450|MSH:D012135 Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. http://purl.obolibrary.org/obo/HP_0010307 Noisy breathing HP:0000972 Palmoplantar hyperkeratosis biolink:PhenotypicFeature mondo SNOMEDCT_US:706885006|MSH:D007645|UMLS:C0022596 Hyperkeratosis affecting the palm of the hand and the sole of the foot. http://purl.obolibrary.org/obo/HP_0000972 Thickening of the outer layer of the skin of the palms and soles|Palmoplantar keratosis|Thick palms and soles|Hyperkeratosis of the palms and soles|Hyperkeratosis of palms and soles|Palmoplantar keratoses|Thickened palms and soles hposlim_core MONDO:0015913 rare thrombotic disease of hematologic origin biolink:Disease mondo Orphanet:182054|UMLS:CN200513 UMLS:CN200513|ORPHA:182054 http://purl.obolibrary.org/obo/MONDO_0015913 ordo_group_of_disorders|obsoletion_candidate MONDO:0015912 MYH-9 related disease biolink:Disease mondo Orphanet:182050|SCTID:712922002|DOID:0060651|GARD:0000180|ICD9:287.33|ICD10:D69.4 MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. SNOMEDCT:712922002|DOID:0060651|ORPHA:182050 http://purl.obolibrary.org/obo/MONDO_0015912 May-Hegglin anomaly|MYH9 related thrombocytopenia|MYH9-RD|MYH9-related disease|Sebastian syndrome|MYH9-related syndromic thrombocytopenia|MYH9 related disorders|Fechtner syndrome|MYH9-related syndrome|Epstein syndrome|MYH9-related disorder|Sebastian platelet syndrome ordo_disease|gard_rare MONDO:0015911 obsolete rare acquired hemolytic anemia biolink:Disease mondo Orphanet:182047|NCIT:C34377|SCTID:4854004 Hemolytic anemia, the cause of which is not present at birth. SNOMEDCT:4854004|ORPHA:182047|NCIT:C34377 http://purl.obolibrary.org/obo/MONDO_0015911 Acquired hemolytic Anemia ordo_group_of_disorders|obsoletion_candidate MONDO:0015910 obsolete rare constitutional hemolytic anemia biolink:Disease mondo UMLS:CN226786|Orphanet:182043 ORPHA:182043|UMLS:CN226786 http://purl.obolibrary.org/obo/MONDO_0015910 rare familial constitutional hemolytic anemia|rare genetic constitutional hemolytic anemia ordo_group_of_disorders|obsoletion_candidate MONDO:0003917 heart lymphoma biolink:Disease mondo DOID:6547|UMLS:C1332850|NCIT:C5368 An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope. DOID:6547|UMLS:C1332850|NCIT:C5368 http://purl.obolibrary.org/obo/MONDO_0003917 heart lymphoma|lymphoma of the heart|Primary heart lymphoma|PCL|lymphoma of heart|Cardiac lymphoma|primary Cardiac lymphoma HGNC:7460 MT-ND4L biolink:OntologyClass mondo http://identifiers.org/hgnc/7460 MONDO:0003918 angiomatous meningioma biolink:Disease mondo UMLS:C0334608|NCIT:C4332|DOID:6548|ICDO:9534/0|EFO:1000086 A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells. UMLS:C0334608|DOID:6548|NCIT:C4332 http://purl.obolibrary.org/obo/MONDO_0003918 angiomatous meningioma (morphologic abnormality) UBERON:0009132 peroneus biolink:AnatomicalEntity mondo One of a group of three muscles fibularis (peronæus) longus, brevis, and tertius originating on the fibula and inserting on the metatarsals http://purl.obolibrary.org/obo/UBERON_0009132 fibularis|fibularis muscle|peroneal muscle|peroneal muscle group|peroneus muscle|peronæus muscle|peroneal muscles HGNC:7462 MT-ND6 biolink:OntologyClass mondo http://identifiers.org/hgnc/7462 UBERON:0009133 pleuroperitoneal membrane biolink:AnatomicalEntity mondo A fold of tissue which extends into the peritoneal cavity of the developing embryo and participates in the separation of the pleural and peritoneal cavities. http://purl.obolibrary.org/obo/UBERON_0009133 pleuroperitoneal membranes|pleuroperitoneal fold MONDO:0003919 obsolete inherited metabolic disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003919 HGNC:7461 MT-ND5 biolink:OntologyClass mondo http://identifiers.org/hgnc/7461 MONDO:0003913 choroid mixed cell melanoma biolink:Disease mondo DOID:6525|UMLS:C1333025|NCIT:C35782 A mixed cell uveal melanoma that involves the optic choroid. DOID:6525|NCIT:C35782|UMLS:C1333025 http://purl.obolibrary.org/obo/MONDO_0003913 optic choroid mixed cell uveal melanoma|mixed cell uveal melanoma of optic choroid|choroid mixed cell melanoma HGNC:7464 MTNR1B biolink:OntologyClass mondo http://identifiers.org/hgnc/7464 MONDO:0003914 obsolete inborn purine-pyrimidine metabolic disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003914 MONDO:0003915 cortical thymoma biolink:Disease mondo NCIT:C6888|DOID:6530|UMLS:C1266095|ICDO:8584/1 A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently. DOID:6530|UMLS:C1266095|NCIT:C6888 http://purl.obolibrary.org/obo/MONDO_0003915 thymoma, cortical|polygonal cell thymoma|thymoma type B2|cortical thymoma MONDO:0003916 overnutrition biolink:Disease mondo SCTID:302872003|MESH:D044343|UMLS:C1257763|ICD9:278.8|DOID:654 An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. MESH:D044343|DOID:654|SNOMEDCT:302872003|UMLS:C1257763 http://purl.obolibrary.org/obo/MONDO_0003916 MONDO:0003931 childhood optic tract astrocytoma biolink:Disease mondo DOID:6575|NCIT:C7534|UMLS:C1333014 An astrocytoma that arises from the visual pathway and occurs during childhood. NCIT:C7534|UMLS:C1333014|DOID:6575 http://purl.obolibrary.org/obo/MONDO_0003931 optic tract astrocytoma of childhood|childhood optic tract astrocytoma|pediatric optic tract astrocytoma|pediatric visual pathway astrocytoma|pediatric optic tract astrocytoma|childhood visual pathway astrocytoma MONDO:0003932 childhood optic nerve glioma biolink:Disease mondo GARD:0009309|DOID:6576|NCIT:C7535 A glioma affecting the optic tract and occurring in childhood. NCIT:C7535|DOID:6576 http://purl.obolibrary.org/obo/MONDO_0003932 childhood optic tract glioma|visual pathway glioma|pediatric visual pathway glioma|glioma of pediatric visual pathway|pediatric optic tract glioma|pediatric optic nerve glioma|pediatric optic nerve glioma|childhood visual pathway glioma|glioma of the pediatric visual pathway|optic nerve glioma of childhood|glioma of childhood visual pathway|glioma of the childhood visual pathway|visual pathway and hypothalamic glioma, childhood MONDO:0003933 chest wall bone cancer biolink:Disease mondo DOID:6579|NCIT:C6724|UMLS:C1334572 An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor. NCIT:C6724|UMLS:C1334572|DOID:6579 http://purl.obolibrary.org/obo/MONDO_0003933 malignant chest wall bone tumor|bone cancer of chest wall|malignant bone neoplasm of chest wall|malignant bone tumor of chest wall|malignant bone tumor of the chest wall|malignant bone neoplasm of the chest wall|chest wall bone cancer|malignant chest wall bone neoplasm MONDO:0003934 breast apocrine carcinoma biolink:Disease mondo NCIT:C5141|DOID:6581|UMLS:C1332316 An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles. NCIT:C5141|DOID:6581|UMLS:C1332316 http://purl.obolibrary.org/obo/MONDO_0003934 breast apocrine adenocarcinoma|apocrine breast carcinoma|apocrine carcinoma of breast|breast apocrine carcinoma|apocrine carcinoma of the breast|apocrine adenocarcinoma of breast MONDO:0003930 non-invasive bladder urothelial carcinoma biolink:Disease mondo NCIT:C6188|UMLS:C1336089|DOID:6571 Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) NCIT:C6188|UMLS:C1336089|DOID:6571 http://purl.obolibrary.org/obo/MONDO_0003930 stage 0 bladder urothelial carcinoma aJCC v6 and v7|non-invasive bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the bladder|stage 0 transitional cell carcinoma of bladder|stage 0 bladder urothelial carcinoma aJCC v7|stage 0 bladder urothelial cancer|stage 0 bladder urothelial carcinoma aJCC v6|stage 0 urinary bladder transitional cell carcinoma|stage 0 bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the urinary bladder|stage 0 transitional cell carcinoma of urinary bladder HP:0000989 Pruritus biolink:PhenotypicFeature mondo SNOMEDCT_US:424492005|MSH:D011537|SNOMEDCT_US:418363000|SNOMEDCT_US:418290006|SNOMEDCT_US:279333002|UMLS:C0033774 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. http://purl.obolibrary.org/obo/HP_0000989 Itching|Skin itching|pruritis|Itchy skin hposlim_core HP:0000988 Skin rash biolink:PhenotypicFeature mondo MSH:D005076|UMLS:C0015230|MEDDRA:10037844|SNOMEDCT_US:112625008|SNOMEDCT_US:271807003 A red eruption of the skin. http://purl.obolibrary.org/obo/HP_0000988 Rash|Skin rash|Exanthem UBERON:0009129 right atrium endocardium biolink:AnatomicalEntity mondo Endocardium that is part of the right atrium. http://purl.obolibrary.org/obo/UBERON_0009129 right atrial endocardium|endocardium of right atrium|right atrium endocardial tissue MONDO:0015902 major hypertriglyceridemia biolink:Disease mondo ICD10:E78.1|Orphanet:181425 Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential. ORPHA:181425 http://purl.obolibrary.org/obo/MONDO_0015902 ordo_group_of_disorders MONDO:0015901 obsolete rare inherited hyperlipidemia biolink:Disease mondo Orphanet:181422 ORPHA:181422 http://purl.obolibrary.org/obo/MONDO_0015901 rare hyperlipidemia ordo_group_of_disorders|obsoletion_candidate HP:0000982 Palmoplantar keratoderma biolink:PhenotypicFeature mondo MSH:D007645|UMLS:C0022596|SNOMEDCT_US:706885006 Abnormal thickening of the skin of the palms of the hands and the soles of the feet. http://purl.obolibrary.org/obo/HP_0000982 Palmar and plantar keratoderma|Thickening of palms and soles MONDO:0015900 hypoaldosteronism disease biolink:Disease mondo UMLS:C0020595|SCTID:60086000|GARD:0002874|MESH:D006994|Orphanet:181419|ICD10:E27.4 ORPHA:181419|SNOMEDCT:60086000|MESH:D006994|UMLS:C0020595 http://purl.obolibrary.org/obo/MONDO_0015900 rare hypoaldosteronism|hypoaldosteronism ordo_group_of_disorders|gard_rare MONDO:0003928 uterine corpus myxoid leiomyosarcoma biolink:Disease mondo ONCOTREE:UMLMS|UMLS:C1519861|DOID:6567|NCIT:C40175 A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. DOID:6567|UMLS:C1519861|NCIT:C40175 http://purl.obolibrary.org/obo/MONDO_0003928 myxoid leiomyosarcoma of body of uterus|uterine corpus myxoid leiomyosarcoma|body of uterus myxoid leiomyosarcoma|uterine myxoid leiomyosarcoma MONDO:0003929 vestibular micropapillomatosis biolink:Disease mondo NCIT:C40290|DOID:6569|UMLS:C1519982 A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva. DOID:6569|UMLS:C1519982|NCIT:C40290 http://purl.obolibrary.org/obo/MONDO_0003929 micropapillomatosis labialis|vestibular micropapillomatosis HGNC:7470 MT-RNR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7470 HGNC:7473 MTRR biolink:OntologyClass mondo http://identifiers.org/hgnc/7473 UBERON:0009122 adenohypophyseal placode biolink:AnatomicalEntity mondo The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary http://purl.obolibrary.org/obo/UBERON_0009122 pituitary placode UBERON:0009124 geniculate placode biolink:AnatomicalEntity mondo Rostralmost epibranchial placode. Associated with 1st branchial cleft. http://purl.obolibrary.org/obo/UBERON_0009124 epibranchial placode 1|hyoid placode|facial VII placode|facial placode|hyoid VII placode|facial epibranchial placode MONDO:0003924 adrenal cortex adenoma biolink:Disease mondo DOID:0050891|EFO:0003104|GARD:0005745|UMLS:C0206667|DOID:656|HP:0008196|ICDO:8370/0|ONCOTREE:ACA|SCTID:302826002|Orphanet:463|MESH:D018246|NCIT:C9003|HP:0008256 A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) DOID:656|ORPHA:463|UMLS:C0206667|DOID:0050891|MESH:D018246|SNOMEDCT:302826002|NCIT:C9003 http://purl.obolibrary.org/obo/MONDO_0003924 adrenal incidentaloma|benign adenoma of the adrenal gland|benign adrenal gland adenoma|benign adenoma of adrenal gland|adenoma of the adrenal gland|adrenocortical adenoma|benign adrenal adenoma|adenoma of adrenal cortex|adenoma, adrenocortical, benign|adenoma of the adrenal cortex|adrenal cortex adenoma|adrenal gland adenoma|adrenal adenoma|adrenal cortical adenoma|cortical cell adenoma|adenoma of adrenal gland gard_rare UBERON:0009125 petrosal placode biolink:AnatomicalEntity mondo Epibranchial placode between geniculate and nodose. Associated with 2nd branchial cleft. http://purl.obolibrary.org/obo/UBERON_0009125 epibranchial placode 2|glossopharyngeal IX placode|glossopharyngeal placode|glossopharyngeal epibranchial placode MONDO:0003925 ethmoid sinus inverted papilloma biolink:Disease mondo NCIT:C6843|UMLS:C1333474|DOID:6562 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. DOID:6562|NCIT:C6843|UMLS:C1333474 http://purl.obolibrary.org/obo/MONDO_0003925 inverted papilloma of ethmoid sinus|inverted papilloma of the ethmoid sinus|ethmoid sinus inverted papilloma MONDO:0003926 neurilemmoma of the pleura biolink:Disease mondo DOID:6564|NCIT:C5418|UMLS:C1335435 A schwannoma that involves the pleura. DOID:6564|NCIT:C5418|UMLS:C1335435 http://purl.obolibrary.org/obo/MONDO_0003926 pleural schwannoma|schwannoma of pleura|neurilemmoma of pleura|pleura schwannoma|pleural neurilemmoma|schwannoma of the pleura UBERON:0009126 nodosal placode biolink:AnatomicalEntity mondo Caudalmost epibranchial placode. Associated with 3rd branchial cleft. http://purl.obolibrary.org/obo/UBERON_0009126 vagal epibranchial placodes|vagal placode|nodose placodes|nodose placode|vagal epibranchial placode|vagal X placode|epibranchial placode 3 HGNC:7477 MT-TC biolink:OntologyClass mondo http://identifiers.org/hgnc/7477 UBERON:0009127 epibranchial ganglion biolink:AnatomicalEntity mondo Cranial ganglion which develops from an epibranchial placode. http://purl.obolibrary.org/obo/UBERON_0009127 epibranchial ganglia MONDO:0003927 posterior uveal melanoma biolink:Disease mondo DOID:6566 DOID:6566 http://purl.obolibrary.org/obo/MONDO_0003927 small size posterior uveal melanoma|medium/large size posterior uveal melanoma MONDO:0001323 infant gynecomastia biolink:Disease mondo SCTID:34831003|ICD9:778.7|UMLS:C1449721|COHD:73019|DOID:11603|ICD10:P83.4 Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. UMLS:C1449721|NCIT:C117312|SNOMEDCT:34831003|DOID:11603 http://purl.obolibrary.org/obo/MONDO_0001323 breast engorgement in newborn|neonatal gynaecomastia MONDO:0003986 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003986 MONDO:0001322 pericardium cancer biolink:Disease mondo NCIT:C4567|UMLS:C0346609|DOID:116|ICD10:C38.0 A malignant neoplasm involving the pericardium. NCIT:C4567|UMLS:C0346609|DOID:116 http://purl.obolibrary.org/obo/MONDO_0001322 malignant pericardial neoplasm|malignant tumor of the pericardium|cancer of pericardium|malignant tumor of pericardium|pericardium cancer|pericardial tumor|malignant pericardial tumor|malignant pericardium neoplasm|malignant neoplasm of the pericardium|malignant neoplasm of pericardium MONDO:0003987 lung lymphoma biolink:Disease mondo UMLS:C1704383|NCIT:C4794|DOID:6760 A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. NCIT:C4794|DOID:6760|UMLS:C1704383 http://purl.obolibrary.org/obo/MONDO_0003987 primary lung lymphoma|lymphoma of the lung|lung lymphoma|pulmonary lymphoma|lymphoma of lung MONDO:0001321 scleral staphyloma (disease) biolink:Disease mondo DOID:11595|COHD:436133|UMLS:C0155359|ICD10:H15.84|HP:0030854|SCTID:111534007|ICD9:379.11 SNOMEDCT:111534007|UMLS:C0155359|DOID:11595 http://purl.obolibrary.org/obo/MONDO_0001321 scleral ectasia|scleral staphyloma MONDO:0003988 sternum lymphoma biolink:Disease mondo UMLS:C1336504|DOID:6762|NCIT:C6716 A rare lymphoma that arises from the bone or soft tissue of the sternum. DOID:6762|NCIT:C6716|UMLS:C1336504 http://purl.obolibrary.org/obo/MONDO_0003988 sternum lymphoma|lymphoma of the sternum|sternal lymphoma|lymphoma of sternum|primary sternal lymphoma UBERON:0009191 sphenoid bone pre-cartilage condensation biolink:AnatomicalEntity mondo A sphenoid endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0009191 MONDO:0003989 polyembryoma of the ovary biolink:Disease mondo UMLS:C1514199|NCIT:C39990|ONCOTREE:OPE|DOID:6774 A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos. NCIT:C39990|UMLS:C1514199|DOID:6774 http://purl.obolibrary.org/obo/MONDO_0003989 polyembryoma|ovarian polyembryoma MONDO:0001320 ring staphyloma biolink:Disease mondo ICD10:H15.85|DOID:11594|SCTID:5299007|ICD9:379.15|UMLS:C0155363 SNOMEDCT:5299007|UMLS:C0155363|DOID:11594 http://purl.obolibrary.org/obo/MONDO_0001320 MONDO:0001327 pelvic muscle wasting biolink:Disease mondo ICD10:N81.84|DOID:11629|ICD9:618.83 DOID:11629 http://purl.obolibrary.org/obo/MONDO_0001327 MONDO:0003982 bilateral breast carcinoma biolink:Disease mondo NCIT:C8287|UMLS:C0281267|DOID:6741 Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner. DOID:6741|NCIT:C8287|UMLS:C0281267 http://purl.obolibrary.org/obo/MONDO_0003982 bilateral breast cancer|bilateral breast cancer|bilateral breast carcinoma UBERON:0009193 sphenoid cartilage element biolink:AnatomicalEntity mondo A sphenoid endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0009193 sphenoid bone cartilage condensation MONDO:0003983 synchronous bilateral breast carcinoma biolink:Disease mondo NCIT:C40370|UMLS:C1515107|DOID:6742 Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast. UMLS:C1515107|NCIT:C40370|DOID:6742 http://purl.obolibrary.org/obo/MONDO_0003983 UBERON:0010183 liver trabecula biolink:AnatomicalEntity mondo A trabecula that is part of a liver http://purl.obolibrary.org/obo/UBERON_0010183 hepatic trabecula MONDO:0001326 dental pulp necrosis biolink:Disease mondo SCTID:42711005|COHD:437590|ICD9:522.1|UMLS:C0011407|MESH:D003790|DOID:11623|ICD10:K04.1 Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification. DOID:11623|MESH:D003790|SNOMEDCT:42711005|UMLS:C0011407 http://purl.obolibrary.org/obo/MONDO_0001326 necrosis of pulp|necrotic pulp|necrosis of the pulp|pulp necrosis MONDO:0001325 penile cancer biolink:Disease mondo ICD10:C60|ICD10:C60.9|ICD10:C60.8|ICD9:187.3|UMLS:CN226091|ICD10:C60.2|DOID:11615|ICD10:C60.1|SCTID:363516004|ICD10:C60.0|ICD9:187.4|NCIT:C7547|Orphanet:398043 A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma. DOID:11615|SNOMEDCT:363516004|UMLS:CN226091|ORPHA:398043|NCIT:C7547 http://purl.obolibrary.org/obo/MONDO_0001325 penile cancer|malignant penile tumor|malignant penile neoplasm|malignant tumor of the penis|malignant neoplasm of body of penis|malignant tumor of penis|penis cancer|penile Ca|penile neoplasm|cancer of penis|malignant penis neoplasm|Ca penis|malignant neoplasm of penis|malignant neoplasm of the penis ordo_group_of_disorders MONDO:0003984 internal auditory canal lipoma biolink:Disease mondo UMLS:C1334226|NCIT:C5452|DOID:6752 A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures. UMLS:C1334226|DOID:6752|NCIT:C5452 http://purl.obolibrary.org/obo/MONDO_0003984 inner Ear lipoma|internal acoustic meatus lipoma|lipoma of internal auditory canal|lipoma of internal acoustic meatus|internal Ear lipoma|lipoma of the internal auditory canal MONDO:0003985 chest wall lymphoma biolink:Disease mondo DOID:6758|UMLS:C1332933|NCIT:C6712 A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas. DOID:6758|UMLS:C1332933|NCIT:C6712 http://purl.obolibrary.org/obo/MONDO_0003985 lymphoma of chest wall|malignant tumor of chest wall|chest wall lymphoma|lymphoma of the chest wall|malignant neoplasm of chest wall|chest wall cancer|primary chest wall lymphoma MONDO:0001324 hyperandrogenism biolink:Disease mondo UMLS:C0206081|MESH:D017588|DOID:11613|SCTID:237793004|EFO:0009006 A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction. MESH:D017588|DOID:11613|UMLS:C0206081|SNOMEDCT:237793004 http://purl.obolibrary.org/obo/MONDO_0001324 hyperandrogenization syndrome UBERON:0009196 indifferent external genitalia biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009196 MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome biolink:Disease mondo OMIM:613564|DOID:0060414|UMLS:C3150804 UMLS:C3150804|DOID:0060414|http://identifiers.org/omim/613564 http://purl.obolibrary.org/obo/MONDO_0013309 chromosome 2p12-p11.2 deletion syndrome UBERON:0010186 male urethral gland biolink:AnatomicalEntity mondo any of the numerous small mucous-secreting glands located in the wall of the penile urethra http://purl.obolibrary.org/obo/UBERON_0010186 gland of male urethra|urethral gland (male)|Littre's gland|gland of Littre|male urethra gland|glandulae urethrales urethrae masculinae UBERON:0010187 female urethral gland biolink:AnatomicalEntity mondo An urethral gland that is part of a female urethra. http://purl.obolibrary.org/obo/UBERON_0010187 urethral gland (female)|gland of female urethra|female urethra gland MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 biolink:Disease mondo OMIM:613561|UMLS:C3150802 Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene. http://identifiers.org/omim/613561|UMLS:C3150802 http://purl.obolibrary.org/obo/MONDO_0013307 myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2|YARS2 mitochondrial myopathy and sideroblastic anemia|MLASA2|mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2|myopathy, lactic acidosis, and sideroblastic anemia 2|myopathy, lactic acidosis, and sideroblastic Anemia type 2 MONDO:0003980 schwannoma of jugular foramen biolink:Disease mondo DOID:6735|UMLS:C1334300|NCIT:C5323 A rare intracranial schwannoma that affects the jugular foramen. DOID:6735|NCIT:C5323|UMLS:C1334300 http://purl.obolibrary.org/obo/MONDO_0003980 jugular foramen schwannoma|schwannoma of the jugular Foramen|neurilemmoma of the jugular Foramen|neurilemmoma of jugular Foramen|jugular Foramen neurilemmoma UBERON:0010185 rete ovarii biolink:AnatomicalEntity mondo A structure formed from the primary sex cords in females, counterpart of the rete testis in males. http://purl.obolibrary.org/obo/UBERON_0010185 rete ovarii of ovary MONDO:0015969 obsolete rare genetic thyroid disease biolink:Disease mondo Orphanet:183631|UMLS:CN200568 Rare genetic thyroid disease. ORPHA:183631|UMLS:CN200568 http://purl.obolibrary.org/obo/MONDO_0015969 rare genetic thyroid disease obsoletion_candidate|ordo_group_of_disorders MONDO:0013308 CBL-related disorder biolink:Disease mondo UMLS:C4016301|ICD10:Q87.1|OMIM:613563|Orphanet:363972|UMLS:C3150803 CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL. http://identifiers.org/omim/613563|UMLS:C4016301|ORPHA:363972|UMLS:C3150803 http://purl.obolibrary.org/obo/MONDO_0013308 Noonan-like syndrome|Cbl syndrome|NSLL|Noonan syndrome-like disorder with JMML|Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia|Cbl mutation-associated syndrome|Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NSLL|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ordo_malformation_syndrome MONDO:0003981 obsolete cervix small cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003981 UBERON:0010188 protuberance biolink:AnatomicalEntity mondo A roughly circular bulge in a surface. http://purl.obolibrary.org/obo/UBERON_0010188 UBERON:0010189 right atrium venous valve biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010189 right venous valve MONDO:0013312 retinitis pigmentosa 55 biolink:Disease mondo ICD10:H35.5|OMIM:613575|DOID:0110370|UMLS:C3150808 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene. http://identifiers.org/omim/613575|DOID:0110370|UMLS:C3150808 http://purl.obolibrary.org/obo/MONDO_0013312 ARL6 retinitis pigmentosa|retinitis pigmentosa 55; RP55|retinitis pigmentosa type 55|RP55|retinitis pigmentosa 55|retinitis pigmentosa caused by mutation in ARL6 MONDO:0015975 hyper-IgM syndrome with susceptibility to opportunistic infections biolink:Disease mondo Orphanet:183663|ICD10:D80.5|UMLS:CN200572 ORPHA:183663|UMLS:CN200572 http://purl.obolibrary.org/obo/MONDO_0015975 HIGM with susceptibility to opportunistic infections predisposition|ordo_disease MONDO:0015974 severe combined immunodeficiency (disease) biolink:Disease mondo GARD:0007628|SCTID:31323000|NCIT:C3472|HP:0004430|MedDRA:10069566|COHD:29783|Orphanet:183660|DOID:627|UMLS:C0085110|ICD10:D81.9|ICD10:D81.3|ICD10:D81.2|MESH:D016511|ICD10:D81.1|ICD10:D81.0 Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells. NCIT:C3472|UMLS:C0085110|ORPHA:183660|DOID:627|SNOMEDCT:31323000|MEDDRA:10069566|MESH:D016511 http://purl.obolibrary.org/obo/MONDO_0015974 severe combined immunodeficiency|SCID|severe combined immunodeficiency disease|combined T and B cell inborn immunodeficiency|severe combined immunodeficiency (disease) ordo_group_of_disorders MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome biolink:Disease mondo OMIM:613576|ICD10:Q82.8|UMLS:C3150809|Orphanet:247827 http://identifiers.org/omim/613576|UMLS:C3150809|ORPHA:247827 http://purl.obolibrary.org/obo/MONDO_0013313 EDCS|ectodermal dysplasia-syndactyly syndrome 2; EDSS2|ectodermal dysplasia-syndactyly syndrome 2|EDSS2 ordo_malformation_syndrome HGNC:7489 MT-TK biolink:OntologyClass mondo http://identifiers.org/hgnc/7489 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency biolink:Disease mondo SCTID:715733000|Orphanet:95699|GARD:0012664|OMIM:613571|ICD10:E25.0 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. SNOMEDCT:715733000|http://identifiers.org/omim/613571|ORPHA:95699 http://purl.obolibrary.org/obo/MONDO_0013310 congenital adrenal hyperplasia due to cytochrome POR deficiency|disordered steroidogenesis due to cytochrome P450 oxidoreductase|PORD|POR deficiency|disordered steroidogenesis due to POR deficiency|adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency|disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency ordo_disease|gard_rare MONDO:0015973 obsolete rare genetic coagulation disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015973 MONDO:0015972 obsolete rare constitutional anemia biolink:Disease mondo Orphanet:183651|UMLS:CN226818 A form of anemia (disease) that is both rare and inborn. ORPHA:183651|UMLS:CN226818 http://purl.obolibrary.org/obo/MONDO_0015972 rare inborn anemia (disease)|rare constitutional anemia (disease)|rare genetic anemia (disease) obsoletion_candidate|ordo_group_of_disorders MONDO:0013311 ectodermal dysplasia-syndactyly syndrome biolink:Disease mondo DC:0000645|OMIMPS:613573|Orphanet:247820|UMLS:CN228599|ICD10:Q82.8 Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. UMLS:CN228599|ORPHA:247820 http://purl.obolibrary.org/obo/MONDO_0013311 EDSS1|EDSS1|ectodermal dysplasia-syndactyly syndrome 1|EDSS|ectodermal dysplasia-syndactyly syndrome type 1 prototype_pattern|ordo_malformation_syndrome MONDO:0013316 occult macular dystrophy biolink:Disease mondo UMLS:C3150833|OMIM:613587|ICD10:H35.5|DOID:0050578|Orphanet:247834 Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. ORPHA:247834|http://identifiers.org/omim/613587|DOID:0050578|UMLS:C3150833 http://purl.obolibrary.org/obo/MONDO_0013316 OMD|Omd|OCMD|occult macular dystrophy; OCMD|occult macular dystrophy ordo_disease MONDO:0015979 hereditary predisposition to infections biolink:Disease mondo Orphanet:183710|ICD10:D84.8 ORPHA:183710 http://purl.obolibrary.org/obo/MONDO_0015979 genetic susceptibility to infections due to particular pathogens ordo_group_of_disorders MONDO:0013317 torsade-de-pointes syndrome with short coupling interval biolink:Disease mondo OMIM:613600|ICD10:I49.8|UMLS:C3150851|Orphanet:51084|SCTID:718104007 Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. SNOMEDCT:718104007|ORPHA:51084|http://identifiers.org/omim/613600|UMLS:C3150851 http://purl.obolibrary.org/obo/MONDO_0013317 torsade DE pointes, short-coupled variant ordo_disease MONDO:0015978 functional neutrophil defect biolink:Disease mondo SCTID:105600002|Orphanet:183681 ORPHA:183681|SNOMEDCT:105600002 http://purl.obolibrary.org/obo/MONDO_0015978 neutrophilopathy|neutrophil disease ordo_group_of_disorders MONDO:0013314 retinitis pigmentosa 56 biolink:Disease mondo ICD10:H35.5|UMLS:C3150819|DOID:0110371|OMIM:613581 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene. http://identifiers.org/omim/613581|UMLS:C3150819|DOID:0110371 http://purl.obolibrary.org/obo/MONDO_0013314 maculopathy, Impg2-related|retinitis pigmentosa caused by mutation in IMPG2|RP56|retinitis pigmentosa 56; RP56|IMPG2 retinitis pigmentosa|retinitis pigmentosa type 56|retinitis pigmentosa 56 MONDO:0015977 agammaglobulinemia biolink:Disease mondo ICD9:279.00|MESH:D000361|MedDRA:10001471|ICD10:D80.1|DOID:2583|Orphanet:183669|OMIMPS:601495|GARD:0007455 A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. MEDDRA:10001471|ORPHA:183669|MESH:D000361|UMLS:C0001768|DOID:2583 http://purl.obolibrary.org/obo/MONDO_0015977 Immunoglobulin Deficiency|antibody Deficiency|IGHM|Gammaglobulin Deficiency|hypogammaglobulinemia|mu heavy chain deficiency ordo_group_of_disorders|gard_rare MONDO:0015976 hyper-IgM syndrome without susceptibility to opportunistic infections biolink:Disease mondo Orphanet:183666|UMLS:CN200573|ICD10:D80.5 ORPHA:183666|UMLS:CN200573 http://purl.obolibrary.org/obo/MONDO_0015976 HIGM without susceptibility to opportunistic infections predisposition|ordo_disease MONDO:0013315 retinitis pigmentosa 57 biolink:Disease mondo ICD10:H35.5|DOID:0110407|OMIM:613582|UMLS:C3150821 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene. http://identifiers.org/omim/613582|UMLS:C3150821|DOID:0110407 http://purl.obolibrary.org/obo/MONDO_0013315 RP57|PDE6G retinitis pigmentosa|retinitis pigmentosa 57; RP57|retinitis pigmentosa caused by mutation in PDE6G|retinitis pigmentosa type 57|retinitis pigmentosa 57 UBERON:0009198 craniofacial suture biolink:AnatomicalEntity mondo Any suture between cranial and/or facial bones. http://purl.obolibrary.org/obo/UBERON_0009198 joint of the skull bones|articulation of skull bones MONDO:0001319 bladder lateral wall cancer biolink:Disease mondo COHD:73153|UMLS:C0496828|ICD9:188.2|DOID:11593|SCTID:188241004|ICD10:C67.2 DOID:11593|NCIT:C12333|UMLS:C0496828|SNOMEDCT:188241004 http://purl.obolibrary.org/obo/MONDO_0001319 malignant neoplasm of lateral wall of urinary bladder HGNC:7481 MT-TF biolink:OntologyClass mondo http://identifiers.org/hgnc/7481 MONDO:0001318 functional gastric disease biolink:Disease mondo ICD9:536.9|ICD9:306.4|SCTID:150541000119104|SCTID:386211005|ICD9:536.8|DOID:1159 DOID:1159|SNOMEDCT:150541000119104|SNOMEDCT:386211005 http://purl.obolibrary.org/obo/MONDO_0001318 disorder of gastric function|functional gastric disorder|disorder of stomach function|functional gastric disturbance|disorder of function of stomach UBERON:0009199 facial suture biolink:AnatomicalEntity mondo Any suture between facial bones. http://purl.obolibrary.org/obo/UBERON_0009199 MONDO:0001317 phlyctenulosis biolink:Disease mondo COHD:377287|ICD9:370.31|DOID:11581|UMLS:C0155080|SCTID:67895005|ICD10:H16.25 SNOMEDCT:67895005|DOID:11581|UMLS:C0155080 http://purl.obolibrary.org/obo/MONDO_0001317 Phlyctenular keratoconjunctivitis|strumous ophthalmia MONDO:0015971 obsolete rare genetic adrenal disease biolink:Disease mondo UMLS:CN200570|Orphanet:183637 ORPHA:183637|UMLS:CN200570 http://purl.obolibrary.org/obo/MONDO_0015971 ordo_group_of_disorders|obsoletion_candidate MONDO:0003979 intrahepatic bile duct cystadenoma biolink:Disease mondo NCIT:C96835|UMLS:C1334257|DOID:6733 A mucinous cystic neoplasm that arises from the intrahepatic bile ducts. UMLS:C1334257|NCIT:C96835|DOID:6733 http://purl.obolibrary.org/obo/MONDO_0003979 intrahepatic bile duct cystadenoma|cystadenoma of the intrahepatic bile duct|intrahepatic bile duct mucinous cystic neoplasm MONDO:0015970 rare genetic parathyroid disease and phosphocalcic metabolism disorder biolink:Disease mondo Orphanet:183634|UMLS:CN200569 ORPHA:183634|UMLS:CN200569 http://purl.obolibrary.org/obo/MONDO_0015970 ordo_group_of_disorders|obsoletion_candidate HGNC:7488 MT-TI biolink:OntologyClass mondo http://identifiers.org/hgnc/7488 MONDO:0003997 colon Kaposi sarcoma biolink:Disease mondo UMLS:C1333091|NCIT:C5516|DOID:6804 A Kaposi sarcoma arising from the colon. UMLS:C1333091|DOID:6804|NCIT:C5516 http://purl.obolibrary.org/obo/MONDO_0003997 Kaposi's sarcoma (disease) of colon|colon Kaposi's sarcoma (disease)|colon Kaposi sarcoma|colon Kaposi's sarcoma|Kaposi's sarcoma of the colon|Kaposi's sarcoma of colon|colon Kaposis sarcoma|colonic Kaposi sarcoma|colonic Kaposi's sarcoma|colonic Kaposis sarcoma MONDO:0001334 hypertrichosis of eyelid biolink:Disease mondo ICD10:H02.86|SCTID:79830009|DOID:11669|UMLS:C0155213|ICD9:374.54 A hypertrichosis (disease) that involves the eyelid. SNOMEDCT:79830009|UMLS:C0155213|DOID:11669 http://purl.obolibrary.org/obo/MONDO_0001334 hypertrichosis (disease) of eyelid|eyelid hypertrichosis (disease) MONDO:0003998 vaginal tubular adenoma biolink:Disease mondo UMLS:C1519932|NCIT:C40257|DOID:6809 An adenoma that arises from the vagina and is characterized by a tubular architectural pattern. NCIT:C40257|DOID:6809|UMLS:C1519932 http://purl.obolibrary.org/obo/MONDO_0003998 vaginal tubular adenoma MONDO:0001333 obsolete Patau syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001333 MONDO:0003999 juvenile pilocytic astrocytoma biolink:Disease mondo NCIT:C27081|DOID:6811|UMLS:C0280783 A pilocytic astrocytoma that occurs during adolescence. DOID:6811|NCIT:C27081|UMLS:C0280783 http://purl.obolibrary.org/obo/MONDO_0003999 juvenile pilocytic astrocytoma MONDO:0001332 palindromic rheumatism biolink:Disease mondo ICD9:719.31|ICD9:719.33|SCTID:50442003|ICD9:719.32|ICD10:M12.3|DOID:1166|MESH:C538103|ICD10:M12.30|GARD:0007304|UMLS:C0085574|ICD9:719.38|ICD9:719.30|ICD9:719.36|COHD:76196|ICD9:719.3 A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms. MESH:C538103|UMLS:C0085574|SNOMEDCT:50442003|DOID:1166 http://purl.obolibrary.org/obo/MONDO_0001332 Hench-Rosenberg syndrome|Hench's syndrome MONDO:0001331 conjunctival deposit biolink:Disease mondo ICD9:372.56|SCTID:62660000|UMLS:C0162280|DOID:11653|ICD10:H11.11 UMLS:C0162280|SNOMEDCT:62660000|DOID:11653 http://purl.obolibrary.org/obo/MONDO_0001331 MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma biolink:Disease mondo UMLS:C1332945|DOID:6787|NCIT:C35556 A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. NCIT:C35556|DOID:6787|UMLS:C1332945 http://purl.obolibrary.org/obo/MONDO_0003993 pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina|pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina|childhood botryoid-type embryonal rhabdomyosarcoma of the vagina|vaginal childhood botryoid-type embryonal rhabdomyosarcoma|childhood sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood|vaginal childhood sarcoma Botryoides MONDO:0001338 acute apical periodontitis biolink:Disease mondo SCTID:718053009|COHD:132659|DOID:11693|UMLS:C4084770|ICD9:522.4|ICD10:K04.4 DOID:11693|SNOMEDCT:718053009|UMLS:C4084770 http://purl.obolibrary.org/obo/MONDO_0001338 acute apical periodontitis of pulpal origin UBERON:0010171 strand of hair of face biolink:AnatomicalEntity mondo A strand of hair that is part of a face. http://purl.obolibrary.org/obo/UBERON_0010171 face hair|facial hair|face hair strand|hair of face UBERON:0010172 bulb of aorta biolink:AnatomicalEntity mondo The portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles http://purl.obolibrary.org/obo/UBERON_0010172 root of aorta|supraaortic valve area|aortic bulb|bulbus aortae|aorta bulb|aortic root|bulb of ascending aorta MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina biolink:Disease mondo UMLS:C1511275|DOID:6788|NCIT:C40268 A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. NCIT:C40268|DOID:6788|UMLS:C1511275 http://purl.obolibrary.org/obo/MONDO_0003994 sarcoma Botryoides of the vagina|botryoid rhabdomyosarcoma of vagina|vagina botryoid rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0001337 inflamed seborrheic keratosis biolink:Disease mondo ICD9:702.11|UMLS:C0376117|COHD:40483107|ICD10:L82.0|SCTID:442348004|DOID:11685 SNOMEDCT:442348004|DOID:11685|UMLS:C0376117 http://purl.obolibrary.org/obo/MONDO_0001337 MONDO:0001336 familial hyperlipidemia biolink:Disease mondo ICD10:E78.5|DOID:1168 An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome. NCIT:C34707|DOID:1168 http://purl.obolibrary.org/obo/MONDO_0001336 hyperlipemia|familial hyperlipoproteinemia|familial hyperlipemia|hyperlipidaemia|hereditary hyperlipidemia (disease) MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma biolink:Disease mondo NCIT:C36098|DOID:6789|UMLS:C1332946 A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. DOID:6789|UMLS:C1332946|NCIT:C36098 http://purl.obolibrary.org/obo/MONDO_0003995 childhood sarcoma Botryoides of the vulva|mammalian vulva childhood botryoid rhabdomyosarcoma|vulvar childhood botryoid-type embryonal rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma of the vulva|childhood botryoid rhabdomyosarcoma of mammalian vulva MONDO:0001335 hypotrichosis of eyelid biolink:Disease mondo DOID:11671|ICD10:H02.72|ICD9:374.55|SCTID:70738004|UMLS:C0155214 A hypotrichosis that involves the eyelid. SNOMEDCT:70738004|UMLS:C0155214|DOID:11671 http://purl.obolibrary.org/obo/MONDO_0001335 eyelid hypotrichosis MONDO:0003996 basal ganglia disease biolink:Disease mondo ICD9:333.0|CSP:2057-3403|UMLS:C0004782|MESH:D001480|DOID:679|SCTID:70835005 A disease involving the basal ganglia. MESH:D001480|DOID:679|SNOMEDCT:70835005|UMLS:C0004782 http://purl.obolibrary.org/obo/MONDO_0003996 collection of basal ganglia disease or disorder|disease of collection of basal ganglia|disorder of basal ganglia|basal ganglia disease|disorder of collection of basal ganglia|disorder of collection of basal ganglia|disease of basal ganglia|collection of basal ganglia disease|disease or disorder of collection of basal ganglia HGNC:7490 MT-TL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7490 MONDO:0003990 malignant breast myoepithelioma biolink:Disease mondo UMLS:C1518167|DOID:6776|NCIT:C40395 An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported. DOID:6776|UMLS:C1518167|NCIT:C40395 http://purl.obolibrary.org/obo/MONDO_0003990 malignant breast myoepithelioma|breast myoepithelial carcinoma|breast malignant myoepithelioma MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature biolink:Disease mondo UMLS:CN200554|Orphanet:183527 ORPHA:183527|UMLS:CN200554 http://purl.obolibrary.org/obo/MONDO_0015959 genetic bone tumor ordo_group_of_disorders|obsoletion_candidate MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma biolink:Disease mondo DOID:6777|NCIT:C27846|UMLS:C1336962 A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells. DOID:6777|NCIT:C27846|UMLS:C1336962 http://purl.obolibrary.org/obo/MONDO_0003991 villoglandular endometrial endometrioid adenocarcinoma MONDO:0015958 obsolete rare genetic bone disease biolink:Disease mondo Orphanet:183524|UMLS:CN200553 Rare genetic bone disease. ORPHA:183524|UMLS:CN200553 http://purl.obolibrary.org/obo/MONDO_0015958 rare genetic bone disease ordo_group_of_disorders|obsoletion_candidate MONDO:0003992 childhood botryoid rhabdomyosarcoma biolink:Disease mondo NCIT:C35574|DOID:6786|UMLS:C1332944 A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. DOID:6786|NCIT:C35574|UMLS:C1332944 http://purl.obolibrary.org/obo/MONDO_0003992 pediatric botryoid rhabdomyosarcoma|pediatric botryoid rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma|botryoid rhabdomyosarcoma of childhood|childhood sarcoma Botryoides MONDO:0001330 presbyopia biolink:Disease mondo COHD:373478|DOID:11638|MESH:D011305|ICD9:367.4|ICD10:H52.4|SCTID:41256004|UMLS:C0033075 The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation. SNOMEDCT:41256004|MESH:D011305|UMLS:C0033075|DOID:11638 http://purl.obolibrary.org/obo/MONDO_0001330 MONDO:0013301 aromatase deficiency biolink:Disease mondo OMIM:613546|MESH:C537436|ICD10:E25.8|Orphanet:91|GARD:0000365|UMLS:C1960539 Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. ORPHA:91|http://identifiers.org/omim/613546|MESH:C537436|UMLS:C0878680|UMLS:C1960539 http://purl.obolibrary.org/obo/MONDO_0013301 pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency|aromatase deficiency gard_rare|ordo_disease MONDO:0015964 obsolete rare genetic palpebral, lacrimal system and conjunctival disease biolink:Disease mondo Orphanet:183598|UMLS:CN200563 ORPHA:183598|UMLS:CN200563 http://purl.obolibrary.org/obo/MONDO_0015964 MONDO:0013302 nephronophthisis 11 biolink:Disease mondo UMLS:C3150796|DOID:0111118|OMIM:613550 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. http://identifiers.org/omim/613550|DOID:0111118|UMLS:C3150796 http://purl.obolibrary.org/obo/MONDO_0013302 NPHP11|nephronophthisis type 11|nephronophthisis 11; NPHP11|nephronophthisis 11 MONDO:0015963 obsolete inherited renal tumor biolink:Disease mondo Orphanet:183595|UMLS:CN200562 ORPHA:183595|UMLS:CN200562 http://purl.obolibrary.org/obo/MONDO_0015963 genetic renal tumor ordo_group_of_disorders MONDO:0015962 inherited renal tubular disease biolink:Disease mondo Orphanet:183592|UMLS:CN200561 ORPHA:183592|UMLS:CN200561 http://purl.obolibrary.org/obo/MONDO_0015962 genetic renal tubular disease ordo_group_of_disorders PO:0009010 seed biolink:OntologyClass mondo A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088). http://purl.obolibrary.org/obo/PO_0009010 MONDO:0013300 commissural facial cleft biolink:Disease mondo SCTID:40159009|OMIM:613545|ICD10:Q18.4|ICD9:744.83|Orphanet:141276|MESH:D008265 Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed) ORPHA:141276|http://identifiers.org/omim/613545|MESH:D008265|SNOMEDCT:40159009 http://purl.obolibrary.org/obo/MONDO_0013300 macrostomia, isolated|lateral cleft, isolated|commissural cleft, isolated|macrostomia|transverse cleft, isolated ordo_morphological_anomaly PO:0009011 plant structure biolink:OntologyClass mondo A plant anatomical entity (PO:0025131) that is, or was, part of a plant, or was derived from a part of a plant. http://purl.obolibrary.org/obo/PO_0009011 植物 構造 (Japanese, exact)|estructura vegetal (Spanish, exact) MONDO:0015961 genetic head and neck malformation biolink:Disease mondo Orphanet:183583 ORPHA:183583 http://purl.obolibrary.org/obo/MONDO_0015961 ordo_group_of_disorders MONDO:0013305 autosomal dominant nonsyndromic deafness 51 biolink:Disease mondo UMLS:C3160736|ICD10:H90.3|OMIM:613558|DOID:0110577 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. UMLS:C3160736|http://identifiers.org/omim/613558|DOID:0110577 http://purl.obolibrary.org/obo/MONDO_0013305 chromosome 9Q21.11 Duplication syndrome|deafness, autosomal dominant 51|DFNA51|chromosome 9q21.11 duplication syndrome|deafness, autosomal dominant type 51|deafness, autosomal dominant 51; DFNA51|autosomal dominant deafness 51|autosomal dominant nonsyndromic deafness type 51 MONDO:0015968 rare genetic hypothalamic or pituitary disease biolink:Disease mondo UMLS:CN200567|Orphanet:183628 ORPHA:183628|UMLS:CN200567 http://purl.obolibrary.org/obo/MONDO_0015968 obsoletion_candidate|ordo_group_of_disorders MONDO:0013306 combined oxidative phosphorylation defect type 7 biolink:Disease mondo OMIM:613559|Orphanet:254930|UMLS:C3150801|SCTID:763204003|ICD10:G31.8 Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life. http://identifiers.org/omim/613559|SNOMEDCT:763204003|ORPHA:254930|UMLS:C3150801 http://purl.obolibrary.org/obo/MONDO_0013306 C12orf65 combined oxidative phosphorylation deficiency|C12ORF65 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 7|COXPD7|severe C12ORF65-related combined oxidative phosphorylation defect|severe C12ORF65-related COXPD|combined oxidative phosphorylation deficiency 7; COXPD7|combined oxidative phosphorylation deficiency caused by mutation in C12ORF65|combined oxidative phosphorylation deficiency caused by mutation in C12orf65|combined oxidative phosphorylation deficiency 7 ordo_disease MONDO:0015967 monogenic diabetes biolink:Disease mondo Orphanet:183625 Rare genetic diabetes mellitus. ORPHA:183625 http://purl.obolibrary.org/obo/MONDO_0015967 rare genetic diabetes mellitus ordo_group_of_disorders MONDO:0013303 autoimmune disease, susceptibility to, 6 biolink:Disease mondo OMIM:613551 Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene. http://identifiers.org/omim/613551 http://purl.obolibrary.org/obo/MONDO_0013303 autoimmune disease, susceptibility to, type 6|autoimmune disease caused by mutation in SIAE|autoimmune disease, susceptibility to, 6; AIS6|SIAE autoimmune disease|susceptibility to autoimmune disease 6|autoimmune disease, susceptibility to, 6|AIS6 predisposition MONDO:0015966 obsolete hereditary eye tumor biolink:Disease mondo UMLS:CN200566|Orphanet:183619 ORPHA:183619|UMLS:CN200566 http://purl.obolibrary.org/obo/MONDO_0015966 genetic eye tumor ordo_group_of_disorders MONDO:0015965 rare genetic refraction anomaly biolink:Disease mondo Orphanet:183601|UMLS:CN226813 ORPHA:183601|UMLS:CN226813 http://purl.obolibrary.org/obo/MONDO_0015965 ordo_group_of_disorders|obsoletion_candidate MONDO:0013304 von Willebrand disease 2 biolink:Disease mondo SCTID:128107007|OMIM:613554|ICD10:D68.0|Orphanet:166081|MESH:D056728|UMLS:C1264040|DOID:0060574 Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF). DOID:0060574|ORPHA:166081|http://identifiers.org/omim/613554|SNOMEDCT:128107007|MESH:D056728|UMLS:C1264040 http://purl.obolibrary.org/obo/MONDO_0013304 von Willebrand's disease type 2|von willebrand's disease 2|VON WILLEBRAND disease, type 2; VWD2|VWD type 2|VWD2|Von Willebrand disease, type 2|Von Willebrand disease, type 2B|von Willebrand disease type 2|Von Willebrand disease, type 2A|von Willebrand disease type II|VON WILLEBRAND disease, type 2|VWD, type 2|Von Willebrand disease, type 2N|Von Willebrand disease, type 2M ordo_clinical_subtype HGNC:7493 MT-TN biolink:OntologyClass mondo http://identifiers.org/hgnc/7493 MONDO:0001329 accommodative spasm biolink:Disease mondo UMLS:C0152196|SCTID:30069002|ICD10:H52.53|ICD9:367.53|DOID:11637 DOID:11637|SNOMEDCT:30069002|UMLS:C0152196 http://purl.obolibrary.org/obo/MONDO_0001329 spasm of accommodation HGNC:7495 MT-TQ biolink:OntologyClass mondo http://identifiers.org/hgnc/7495 MONDO:0001328 thyroid hormone resistance syndrome biolink:Disease mondo MESH:D018382|SCTID:111567006|ICD9:259.8|UMLS:CN118820|DOID:11633 An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. SNOMEDCT:111567006|DOID:11633|UMLS:CN118820|MESH:D018382 http://purl.obolibrary.org/obo/MONDO_0001328 RTH|thyroid hormone resistance syndrome|thyroid hormone responsiveness defect|Refetoff syndrome|resistance to thyrotropin|resistance to thyroid stimulating hormone|generalized thyroid hormone resistance|thyroid hormone resistance|TSH resistance HGNC:7494 MT-TP biolink:OntologyClass mondo http://identifiers.org/hgnc/7494 MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis biolink:Disease mondo Orphanet:183530|UMLS:CN226804 ORPHA:183530|UMLS:CN226804 http://purl.obolibrary.org/obo/MONDO_0015960 obsoletion_candidate|ordo_group_of_disorders HGNC:7497 MT-TS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7497 HGNC:7499 MT-TT biolink:OntologyClass mondo http://identifiers.org/hgnc/7499 HGNC:7498 MT-TS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7498 MONDO:0001301 rumination disorder biolink:Disease mondo ICD9:307.53|NCIT:C92567|GARD:0007594|DOID:11507|MESH:D019959|SCTID:192014006 Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment. MESH:D019959|DOID:11507|SNOMEDCT:192014006|NCIT:C92567 http://purl.obolibrary.org/obo/MONDO_0001301 psychogenic rumination|rumination|rumination syndrome gard_rare MONDO:0003964 myositis ossificans biolink:Disease mondo UMLS:C0027122|NCIT:C3253|DOID:668|MESH:D009221 A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues. NCIT:C3253|UMLS:C0027122|MESH:D009221|DOID:668 http://purl.obolibrary.org/obo/MONDO_0003964 fop|progressive myositis ossificans|progressive ossifying myositis|myositis ossificans progressiva|ossification - muscle|fibrodysplasia ossificans progressiva|Myisitis ossificans MONDO:0003965 Capgras syndrome biolink:Disease mondo MESH:D002194|DOID:6680|NCIT:C34446 A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all. MESH:D002194|DOID:6680|NCIT:C34446 http://purl.obolibrary.org/obo/MONDO_0003965 Capgras delusion theory MONDO:0001300 autonomic neuropathy biolink:Disease mondo UMLS:C0259749|SCTID:277879009|CSP:2049-9000|CSP:2042-2001|NCIT:C27033|DOID:11504|DOID:0060054 An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities. SNOMEDCT:277879009|DOID:11504|NCIT:C27033|DOID:0060054|UMLS:C0259749 http://purl.obolibrary.org/obo/MONDO_0001300 autonomic nervous system peripheral neuropathy|autonomic peripheral neuropathy|peripheral neuropathy of autonomic nervous system MONDO:0003966 testicular monophasic choriocarcinoma biolink:Disease mondo DOID:6693|NCIT:C39935|UMLS:C1515290 A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent. NCIT:C39935|UMLS:C1515290|DOID:6693 http://purl.obolibrary.org/obo/MONDO_0003966 MONDO:0003967 synchronous multifocal osteogenic sarcoma biolink:Disease mondo NCIT:C6471|DOID:6696|UMLS:C1336544 A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis. NCIT:C6471|UMLS:C1336544|DOID:6696 http://purl.obolibrary.org/obo/MONDO_0003967 synchronous multifocal osteosarcoma GO:1990731 UV-damage excision repair, DNA incision biolink:OntologyClass mondo A process that results in the endonucleolytic cleavage of the damaged strand of DNA immediately 5' of a UV-induced damage site, and is the first part of a DNA repair process that acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). http://purl.obolibrary.org/obo/GO_1990731 DNA incision involved in alternative excision repair|DNA incision involved in UVDE-dependent excision repair|DNA incision involved in UV-damaged DNA endonuclease-dependent excision repair|nucleic acid cleavage involved in UV-damage excision repair|DNA incision involved in UVER|alternative excision repair, DNA incision|DNA incision involved in UV-damage excision repair|DNA incision involved in AER|UV-damaged DNA endonuclease-dependent excision repair, DNA incision|UVDE-dependent excision repair, DNA incision MONDO:0003960 pulmonary large cell neuroendocrine carcinoma biolink:Disease mondo DOID:6658|NCIT:C5672|UMLS:C1334363 A large cell neuroendocrine carcinoma that involves the lung(s). NCIT:C5672|UMLS:C1334363|DOID:6658 http://purl.obolibrary.org/obo/MONDO_0003960 large cell lung carcinoma with neuroendocrine differentiation|large cell lung neuroendocrine carcinoma|large cell neuroendocrine carcinoma of lung|large cell neuroendocrine carcinoma of the lung|lung large cell neuroendocrine carcinoma|LCNEC of the lung|pulmonary large cell neuroendocrine carcinoma MONDO:0001305 laryngostenosis biolink:Disease mondo COHD:24974|SCTID:75547007|ICD10:J38.6|UMLS:C0023075|ICD9:478.74|DOID:11527|HP:0001602|MESH:D007829 Narrowing of the laryngeal airway. MESH:D007829|DOID:11527|SNOMEDCT:75547007|NCIT:C79608|UMLS:C0023075 http://purl.obolibrary.org/obo/MONDO_0001305 stenosis of larynx UBERON:0010160 lumen of lymphatic vessel biolink:AnatomicalEntity mondo An anatomical cavity that surrounded_by a lymphatic vessel. http://purl.obolibrary.org/obo/UBERON_0010160 lumen of lymphatic duct|lymphatic vessel lumen MONDO:0001304 benign hypertensive renal disease biolink:Disease mondo SCTID:193003|DOID:11520|ICD9:403.10|ICD9:403.1|UMLS:C0155596|COHD:193493 UMLS:C0155596|SNOMEDCT:193003|DOID:11520 http://purl.obolibrary.org/obo/MONDO_0001304 hypertensive renal disease, benign|hypertensive renal disease, benign, without mention of renal failure MONDO:0003961 obsolete cervical large cell neuroendocrine carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003961 UBERON:0010161 lumen of blood vessel biolink:AnatomicalEntity mondo An anatomical cavity that surrounded_by a blood vessel. http://purl.obolibrary.org/obo/UBERON_0010161 blood vessel lumen MONDO:0003962 Froelich syndrome biolink:Disease mondo ICD9:253.8|GARD:0006463|SCTID:62999006|DOID:6676|ICD10:E23.6|NCIT:C34625 Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today. DOID:6676|SNOMEDCT:62999006|NCIT:C34625 http://purl.obolibrary.org/obo/MONDO_0003962 Babinski-Froelich syndrome|Froehlich syndrome|sexual infantilism|adiposogenital dystrophy|Fröhlich syndrome|Frolich's syndrome|hypothalamic infantilism-obesity|Froelich's adiposity|Frohlich's syndrome|Froelich's syndrome|dystrophia Adiposogenitalis|Frohlich syndrome|Launois-Cleret syndrome|Froehlich's syndrome|Adiposodysgenesis|adiposogenital syndrome gard_rare MONDO:0001303 abnormal pupillary function (disease) biolink:Disease mondo ICD10:H57.09|HP:0007686|ICD9:379.49|COHD:437295|SCTID:72124005|DOID:11518|ICD9:379.40 DOID:11518|SNOMEDCT:72124005 http://purl.obolibrary.org/obo/MONDO_0001303 abnormal pupillary function MONDO:0003963 diffuse infiltrative lymphocytosis syndrome biolink:Disease mondo NCIT:C35699|UMLS:C1333292|SCTID:449784008|DOID:6677 This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs. UMLS:C1333292|NCIT:C35699|DOID:6677|SNOMEDCT:449784008 http://purl.obolibrary.org/obo/MONDO_0003963 diffuse infiltra. lymph. syndrome|diffuse infiltra. lymph. sydrome MONDO:0001302 hypertensive heart disease biolink:Disease mondo ICD9:402|SCTID:64715009|ICD10:I11|COHD:442604|ICD9:402.9|DOID:11516|NCIT:C4907|ICD10:I11.9|UMLS:C0152105 Abnormal enlargement of the heart resulting from long-standing hypertension. SNOMEDCT:64715009|DOID:11516|UMLS:C0152105|NCIT:C4907 http://purl.obolibrary.org/obo/MONDO_0001302 hypertensive cardiomegaly|hypertensive cardiovascular disease|hypertensive heart disease|hypertensive cardiopathy UBERON:0010164 collection of hairs biolink:AnatomicalEntity mondo An anatomical cluster that composed_primarily_of a strand of hair. http://purl.obolibrary.org/obo/UBERON_0010164 set of hairs|pili|hairs set|hairs MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder biolink:Disease mondo UMLS:CN200546|Orphanet:183484 ORPHA:183484|UMLS:CN200546 http://purl.obolibrary.org/obo/MONDO_0015949 genetic subcutaneous tissue disorder obsoletion_candidate|ordo_group_of_disorders UBERON:0010165 collection of hair on face biolink:AnatomicalEntity mondo A collection of hairs that is part of a face. http://purl.obolibrary.org/obo/UBERON_0010165 set of facial hairs|facial hair|facial hairs set MONDO:0015948 obsolete rare genetic skin vascular disorder biolink:Disease mondo UMLS:CN200545|Orphanet:183478 ORPHA:183478|UMLS:CN200545 http://purl.obolibrary.org/obo/MONDO_0015948 genetic skin vascular disorder ordo_group_of_disorders|obsoletion_candidate UBERON:0010162 post-anal tail tip biolink:AnatomicalEntity mondo The distal end of the tail http://purl.obolibrary.org/obo/UBERON_0010162 end of tail|tail tip MONDO:0015947 inherited ichthyosis biolink:Disease mondo MedDRA:10021202|Orphanet:183435|SCTID:13059002|ICD10:Q80|ICD9:757.1|COHD:134743 An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. ORPHA:183435|UMLS:C0856562|SNOMEDCT:13059002|MEDDRA:10021202 http://purl.obolibrary.org/obo/MONDO_0015947 congenital ichthyosis|fish scale disease|ichthyosis congenita|congenital ichthyosis of skin|genetic ichthyosis|inherited genetic ichthyosis|hereditary ichthyosis (disease)|fish skin ordo_group_of_disorders UBERON:0010167 beard biolink:AnatomicalEntity mondo The collection of hair that grows on the chin, cheeks and neck of human beings. Usually, only pubescent or adult males are able to grow beards. However, women with hirsutism may develop a beard. When differentiating between upper and lower facial hair, a beard specifically includes the moustache, which refers to hair above the upper lip and around it. http://purl.obolibrary.org/obo/UBERON_0010167 MONDO:0015953 genetic central nervous system and retinal vascular disease biolink:Disease mondo Orphanet:183503|UMLS:CN200550 ORPHA:183503|UMLS:CN200550 http://purl.obolibrary.org/obo/MONDO_0015953 ordo_group_of_disorders MONDO:0015952 obsolete genetic neurodegenerative disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015952 MONDO:0015951 hereditary photodermatosis biolink:Disease mondo Orphanet:183490 Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. ORPHA:183490 http://purl.obolibrary.org/obo/MONDO_0015951 genetic skin photosensitivity|genetic photosensitivity|photogenodermatosis|photogénodermatose ordo_group_of_disorders MONDO:0015950 inherited skin tumor biolink:Disease mondo UMLS:CN200547|Orphanet:183487 ORPHA:183487|UMLS:CN200547 http://purl.obolibrary.org/obo/MONDO_0015950 genetic skin tumor ordo_group_of_disorders MONDO:0015957 obsolete rare genetic movement disorder biolink:Disease mondo Orphanet:183521|UMLS:CN226803 Rare genetic movement disorder. ORPHA:183521|UMLS:CN226803 http://purl.obolibrary.org/obo/MONDO_0015957 rare genetic movement disorder ordo_group_of_disorders|obsoletion_candidate MONDO:0015956 obsolete rare hereditary ataxia biolink:Disease mondo Rare hereditary ataxia. http://purl.obolibrary.org/obo/MONDO_0015956 MONDO:0015955 obsolete rare genetic epilepsy biolink:Disease mondo Orphanet:183512|UMLS:CN226802 A form of epilepsy that is both rare and inborn. ORPHA:183512|UMLS:CN226802 http://purl.obolibrary.org/obo/MONDO_0015955 rare genetic epilepsy ordo_group_of_disorders|obsoletion_candidate MONDO:0015954 obsolete rare genetic headache disorder biolink:Disease mondo Orphanet:183509|UMLS:CN226801 ORPHA:183509|UMLS:CN226801 http://purl.obolibrary.org/obo/MONDO_0015954 rare genetic headache obsoletion_candidate|ordo_group_of_disorders PO:0009007 portion of plant tissue biolink:OntologyClass mondo A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types. http://purl.obolibrary.org/obo/PO_0009007 MONDO:0003957 adult pineoblastoma biolink:Disease mondo NCIT:C8292|UMLS:C0281332|DOID:6648 A pineoblastoma occurring in adults. DOID:6648|NCIT:C8292|UMLS:C0281332 http://purl.obolibrary.org/obo/MONDO_0003957 adult pineoblastoma|pineoblastoma of adults|pineoblastoma PO:0009001 fruit biolink:OntologyClass mondo A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062), or a single carpel (PO:0009030), and at maturity may have as parts one or more seeds (PO:0009010). http://purl.obolibrary.org/obo/PO_0009001 MONDO:0003958 childhood central nervous system immature teratoma biolink:Disease mondo DOID:6654|NCIT:C27405|UMLS:C1332954 An immature teratoma that arises from the central nervous system and occurs during childhood. NCIT:C27405|DOID:6654|UMLS:C1332954 http://purl.obolibrary.org/obo/MONDO_0003958 pediatric central nervous system immature teratoma|childhood central nervous system immature teratoma|pediatric central nervous system immature teratoma|central nervous system immature teratoma of childhood MONDO:0003959 breast large cell neuroendocrine carcinoma biolink:Disease mondo NCIT:C40356|UMLS:C1511316|DOID:6657 A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity. UMLS:C1511316|NCIT:C40356|DOID:6657 http://purl.obolibrary.org/obo/MONDO_0003959 breast large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of breast MONDO:0001312 acute serous otitis media biolink:Disease mondo COHD:375827|ICD10:H65.00|SCTID:194240006|ICD10:H65.0|ICD9:381.01|DOID:11557|UMLS:C0155415 A acute transudative otitis media with thin, watery and sterile effusion. DOID:11557|SNOMEDCT:194240006|UMLS:C0155415 http://purl.obolibrary.org/obo/MONDO_0001312 acute non-suppurative otitis media - serous MONDO:0003975 Littre gland carcinoma biolink:Disease mondo NCIT:C39865|UMLS:C1516285|DOID:6721 A carcinoma involving a male urethral gland. NCIT:C39865|UMLS:C1516285|DOID:6721 http://purl.obolibrary.org/obo/MONDO_0003975 male urethral gland carcinoma|carcinoma of LittrC) glands|carcinoma of Littre glands|carcinoma of Littré glands|carcinoma of male urethral gland MONDO:0003976 malignant type AB thymoma biolink:Disease mondo ICDO:8582/3|NCIT:C6886|UMLS:C1266093|DOID:6723 A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. NCIT:C6886|DOID:6723|UMLS:C1266093 http://purl.obolibrary.org/obo/MONDO_0003976 thymoma, mixed type, malignant|thymoma type AB, malignant|malignant thymoma type AB|malignant type AB thymoma MONDO:0001311 obsolete Chandler syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001311 MONDO:0001310 Bowman's membrane folds or rupture biolink:Disease mondo DOID:11552|SCTID:45382000|UMLS:C0155115|ICD9:371.31|ICD10:H18.31 SNOMEDCT:45382000|UMLS:C0155115|DOID:11552 http://purl.obolibrary.org/obo/MONDO_0001310 folds and/or rupture of bowman's membrane|Bowman membrane folds or rupture MONDO:0003977 obsolete fibrillary astrocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003977 MONDO:0003978 colon small cell neuroendocrine carcinoma biolink:Disease mondo NCIT:C6761|UMLS:C1333099|DOID:6727 An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells. NCIT:C6761|UMLS:C1333099|DOID:6727 http://purl.obolibrary.org/obo/MONDO_0003978 small cell carcinoma of the colon|small cell carcinoma of colon|colon small cell neuroendocrine cancer|small cell colon carcinoma|Oat cell carcinoma of the colon|Oat cell carcinoma of colon|colonic Oat cell carcinoma|colon small cell neuroendocrine carcinoma|colonic small cell carcinoma|colon small cell carcinoma|colon Oat cell carcinoma|Oat cell colon carcinoma MONDO:0001316 streptococcal meningitis biolink:Disease mondo UMLS:C0154639|DOID:11574|COHD:440390|ICD9:320.2|ICD10:G00.2|SCTID:4510004 An infectious meningitis caused by infection with Streptococcus. DOID:11574|UMLS:C0154639|SNOMEDCT:4510004 http://purl.obolibrary.org/obo/MONDO_0001316 Streptococcus infectious meningitis|Streptococcus caused infectious meningitis MONDO:0003971 gastric pylorus carcinoma biolink:Disease mondo DOID:6703|NCIT:C6795|UMLS:C1333787 A carcinoma that arises from the pylorus. UMLS:C1333787|DOID:6703|NCIT:C6795 http://purl.obolibrary.org/obo/MONDO_0003971 gastric pylorus cancer|gastric pylorus carcinoma|cancer of the pylorus of the stomach|cancer of pylorus of stomach|carcinoma of pylorus of stomach|carcinoma of the pylorus of the stomach|gastric pylorus (stomach) cancer|carcinoma of the gastric pylorus|carcinoma of gastric pylorus|cancer of the gastric pylorus|cancer of gastric pylorus MONDO:0001315 neurocirculatory asthenia biolink:Disease mondo COHD:433177|SCTID:191962000|ICD9:306.2|MESH:D009449|DOID:11569 A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder. DOID:11569|SNOMEDCT:191962000|MESH:D009449 http://purl.obolibrary.org/obo/MONDO_0001315 Krishaber's disease|cardiovascular malfunction arising from mental factors|Da Costa's syndrome|cardiovascular neurosis MONDO:0003972 gastric body carcinoma biolink:Disease mondo DOID:6705|UMLS:C0345804|SCTID:254557000|NCIT:C8399 A carcinoma that arises from epithelial cells of the body of stomach. DOID:6705|UMLS:C0345804|NCIT:C8399|SNOMEDCT:254557000 http://purl.obolibrary.org/obo/MONDO_0003972 cancer of gastric body|carcinoma of gastric body|cancer of the gastric body|carcinoma of the gastric body|cancer of body of stomach|carcinoma of the body of the stomach|cancer of the body of the stomach|gastric body (stomach) cancer|carcinoma of body of stomach|body of stomach carcinoma|gastric body carcinoma|gastric body cancer UBERON:0010150 duct of major vestibular gland biolink:AnatomicalEntity mondo One of a pair of ducts leading from the Bartholin's glands to the surface of the vulva http://purl.obolibrary.org/obo/UBERON_0010150 greater vestibular gland duct|Bartholin's duct|duct of greater vestibular gland MONDO:0001314 chondrocalcinosis biolink:Disease mondo ICD9:275.49|HP:0000934|SCTID:239832006|COHD:437064|MESH:D002805|DOID:1156|NCIT:C34955|ICD9:712.1 An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. MESH:D002805|SNOMEDCT:239832006|NCIT:C34955|DOID:1156 http://purl.obolibrary.org/obo/MONDO_0001314 pseudogout|calcium pyrophosphate deposition disease MONDO:0003973 tubular variant testicular seminoma biolink:Disease mondo DOID:6706|NCIT:C40959|UMLS:C1515294 A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes. UMLS:C1515294|DOID:6706|NCIT:C40959 http://purl.obolibrary.org/obo/MONDO_0003973 testicular seminoma, tubular variant MONDO:0001313 acute allergic serous otitis media biolink:Disease mondo ICD9:381.04|COHD:373784|UMLS:C0155418|SCTID:59275002|DOID:11558 A acute serous otitis media caused by an allergen. DOID:11558|SNOMEDCT:59275002|UMLS:C0155418 http://purl.obolibrary.org/obo/MONDO_0001313 MONDO:0003974 obsolete malignant triton tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003974 MONDO:0015939 systemic autoimmune disease biolink:Disease mondo Orphanet:182228|UMLS:CN200529 An autoimmune form of systemic disease. UMLS:CN200529|ORPHA:182228 http://purl.obolibrary.org/obo/MONDO_0015939 autoimmune systemic disease ordo_group_of_disorders MONDO:0015938 systemic disease biolink:Disease mondo SCTID:281867008|ICD9:799.89|Orphanet:182222|NCIT:C9229|UMLS:C0442893 A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole. SNOMEDCT:281867008|UMLS:C0442893|ORPHA:182222|NCIT:C9229 http://purl.obolibrary.org/obo/MONDO_0015938 multi-system disorder|multisystem disorder|rare systemic disease|systemic disorder ordo_group_of_disorders UBERON:0010151 duct of bulbourethral gland biolink:AnatomicalEntity mondo A duct that is part of a bulbo-urethral gland. http://purl.obolibrary.org/obo/UBERON_0010151 bulbourethral gland duct|duct of bulbo-urethral gland|ductus glandulae bulbourethralis MONDO:0015937 rare inflammatory eye disease biolink:Disease mondo UMLS:CN200527|Orphanet:182214 ORPHA:182214|UMLS:CN200527 http://purl.obolibrary.org/obo/MONDO_0015937 ordo_group_of_disorders|obsoletion_candidate UBERON:0010152 skin mucus biolink:AnatomicalEntity mondo A mucous secretion that is produced by glands in the epidermis. http://purl.obolibrary.org/obo/UBERON_0010152 epidermal mucus|skin mucous MONDO:0003970 gastric fundus carcinoma biolink:Disease mondo UMLS:C0345799|NCIT:C8398|DOID:6700|SCTID:254555008 A carcinoma that arises from epithelial cells of the fundus of stomach. UMLS:C0345799|DOID:6700|NCIT:C8398|SNOMEDCT:254555008 http://purl.obolibrary.org/obo/MONDO_0003970 carcinoma of the fundus of the stomach|cancer of fundus of stomach|carcinoma of fundus of stomach|cancer of gastric fundus|fundus of stomach carcinoma|cancer of the gastric fundus|Gastric fundus cancer|carcinoma of gastric fundus|gastric fundus (stomach) cancer|cancer of the fundus of the stomach|carcinoma of the gastric fundus MONDO:0015936 obsolete rare tumor of endocrine glands biolink:Disease mondo Orphanet:182130 A rare tumor that involves the endocrine gland. ORPHA:182130 http://purl.obolibrary.org/obo/MONDO_0015936 endocrine gland rare tumor|tumor of endocrine glands obsoletion_candidate|ordo_group_of_disorders MONDO:0015942 frontometaphyseal dysplasia biolink:Disease mondo ICD9:759.89|MESH:C538064|SCTID:62803002|OMIMPS:305620|DC:0000731|Orphanet:1826|ICD10:Q78.5|GARD:0000826 Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss. SNOMEDCT:62803002|MESH:C538064|ORPHA:1826 http://purl.obolibrary.org/obo/MONDO_0015942 FMD|frontometaphyseal dysplasia ordo_disease|prototype_pattern MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome biolink:Disease mondo SCTID:766870005|Orphanet:1825|UMLS:CN200532|GARD:0002178|ICD10:Q87.0 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. UMLS:CN200532|ORPHA:1825|SNOMEDCT:766870005 http://purl.obolibrary.org/obo/MONDO_0015941 Finucane-Kurtz-Scott syndrome|Finucane Kurtz Scott syndrome|epiphyseal dysplasia hearing loss dysmorphism gard_rare|ordo_malformation_syndrome MONDO:0015940 obsolete rare rheumatologic disease biolink:Disease mondo UMLS:CN200530|Orphanet:182231 Any of the forms of rheumatologic disorder that have a rare incidence. ORPHA:182231|UMLS:CN200530 http://purl.obolibrary.org/obo/MONDO_0015940 rare rheumatologic disorder|rare rheumatological disease obsoletion_candidate|ordo_group_of_disorders MONDO:0015946 obsolete rare genetic epidermal disorder biolink:Disease mondo Orphanet:183426|UMLS:CN200542 ORPHA:183426|UMLS:CN200542 http://purl.obolibrary.org/obo/MONDO_0015946 genetic epidermal disorder ordo_group_of_disorders|obsoletion_candidate MONDO:0015945 polymalformative genetic syndrome with increased risk of developing cancer biolink:Disease mondo Orphanet:183422|UMLS:CN200541 Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. ORPHA:183422|UMLS:CN200541 http://purl.obolibrary.org/obo/MONDO_0015945 PGSIRC ordo_group_of_disorders MONDO:0015944 axial mesodermal dysplasia spectrum biolink:Disease mondo UMLS:C2931613|MESH:C537790|ICD10:Q87.8|Orphanet:1834|SCTID:765755006|GARD:0000213 Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. SNOMEDCT:765755006|UMLS:C2931613|MESH:C537790|ORPHA:1834 http://purl.obolibrary.org/obo/MONDO_0015944 blastogenesis defect|Russell-Weaver-Bull syndrome|Russell Weaver Bull syndrome ordo_malformation_syndrome|gard_rare MONDO:0015943 eosinophilic granulomatosis with polyangiitis biolink:Disease mondo GARD:0005776|GARD:0006111|ICD10:M30.1|MESH:D015267|DOID:3049|Orphanet:183|UMLS:C0008728|NCIT:C34481|EFO:0007208|MedDRA:10048594|SCTID:82275008 Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. MESH:D015267|SNOMEDCT:82275008|MESH:C531653|ORPHA:183|MEDDRA:10048594|NCIT:C34481|DOID:3049|UMLS:C0008728 http://purl.obolibrary.org/obo/MONDO_0015943 vasculitis, Churg Strauss|allergic Granulomatoses|angiitis, granulomatous allergic|vasculitis, eosinophilic granulomatous|granulomatous angiitis, allergic|granulomatous allergic Angiitides|Vasculitides, eosinophilic granulomatous|Angiitides, granulomatous allergic|granulomatous Angiitides, allergic|allergic granulomatosis|allergic granulomatous and angiitis|allergic granulomatous angiitis|angiitis, allergic|Angiitides, allergic|granulomatous allergic angiitis|Granulomatoses, allergic|Churg-Strauss vasculitis|EGPA|allergic granulomatosis angiitis|allergic Angiitides, granulomatous|Churg-Strauss syndrome|allergic angiitis, granulomatous|angiitis, allergic granulomatous|syndrome, Churg-Strauss|Churg Strauss syndrome|Angiitides, allergic granulomatous|allergic angiitis and granulomatosis|granulomatosis, allergic|granulomatous vasculitis, eosinophilic|eosinophilic granulomatous vasculitis|granulomatous Vasculitides, eosinophilic|eosinophilic granulomatous Vasculitides|allergic granulomatous Angiitides|vasculitis, Churg-Strauss|allergic angiitis|allergic Angiitides ordo_disease MONDO:0001309 oculomotor nerve paralysis biolink:Disease mondo NCIT:C27597|Orphanet:98685|UMLS:C0028866|DOID:11550|ICD10:H49.0|SCTID:388980004 Paralysis of the oculomotor nerve. NCIT:C27597|DOID:11550|UMLS:C0028866|ORPHA:98685|SNOMEDCT:388980004 http://purl.obolibrary.org/obo/MONDO_0001309 third cranial nerve paralysis|third cranial nerve paralysis, NOS|oculomotor nerve paralysis|III nerve palsy|IIIrd nerve paralysis|cranial nerve palsy of oculomotor nerve|oculomotor palsy|oculomotor nerve cranial nerve palsy ordo_group_of_disorders MONDO:0001308 corneal deposit biolink:Disease mondo DOID:11547|ICD10:H18.00|SCTID:74460005|ICD9:371.10|COHD:377288|ICD10:H18.0|UMLS:C0162281 DOID:11547|SNOMEDCT:74460005|UMLS:C0162281 http://purl.obolibrary.org/obo/MONDO_0001308 deposits - cornea GO:1990748 cellular detoxification biolink:OntologyClass mondo Any process carried out at the cellular level that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance. http://purl.obolibrary.org/obo/GO_1990748 MONDO:0001307 corneal abscess biolink:Disease mondo DOID:11543|NCIT:C26969|ICD9:370.55|ICD10:H16.31|SCTID:64366002|UMLS:C0155091 An abscess of the cornea. SNOMEDCT:64366002|UMLS:C0155091|DOID:11543|NCIT:C26969 http://purl.obolibrary.org/obo/MONDO_0001307 MONDO:0001306 recurrent corneal erosion biolink:Disease mondo HP:0000495|DOID:11541|UMLS:C0155119|COHD:374946|SCTID:2055003|ICD9:371.42|ICD10:H18.83 UMLS:C0155119|DOID:11541|SNOMEDCT:2055003 http://purl.obolibrary.org/obo/MONDO_0001306 recurrent erosion syndrome|recurrent erosion of cornea MONDO:0003968 asynchronous multifocal osteogenic sarcoma biolink:Disease mondo DOID:6697|UMLS:C1332342|NCIT:C6472 A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas. NCIT:C6472|DOID:6697|UMLS:C1332342 http://purl.obolibrary.org/obo/MONDO_0003968 asynchronous multifocal osteosarcoma MONDO:0003969 amphetamine abuse biolink:Disease mondo ICD9:305.7|SCTID:84758004|DOID:670|ICD9:305.70|MESH:D019969|COHD:432878 Disorders related or resulting from use of amphetamines. MESH:D019969|SNOMEDCT:84758004|DOID:670 http://purl.obolibrary.org/obo/MONDO_0003969 GO:0001654 eye development biolink:OntologyClass mondo The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. http://purl.obolibrary.org/obo/GO_0001654 HGNC:237 ADCY6 biolink:OntologyClass mondo http://identifiers.org/hgnc/237 HGNC:236 ADCY5 biolink:OntologyClass mondo http://identifiers.org/hgnc/236 HGNC:232 ADCY1 biolink:OntologyClass mondo http://identifiers.org/hgnc/232 CHEBI:27594 carbon atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_27594 carbonium|C|carbono|carbon|Carbon|6C|Kohlenstoff|carbon|carbone HP:0000929 Abnormal skull morphology biolink:PhenotypicFeature mondo UMLS:C0235942 An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. http://purl.obolibrary.org/obo/HP_0000929 Abnormality of the skull|Abnormality of the skull bones GO:0001667 ameboidal-type cell migration biolink:OntologyClass mondo Cell migration that is accomplished by extension and retraction of a pseudopodium. http://purl.obolibrary.org/obo/GO_0001667 ameboid cell migration|amoeboidal cell migration|amoeboid cell migration GO:0098573 intrinsic component of mitochondrial membrane biolink:OntologyClass mondo The component of the mitochondrial membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/GO_0098573 intrinsic to mitochondrial membrane HGNC:245 ADD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/245 HGNC:243 ADD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/243 HP:0000925 Abnormality of the vertebral column biolink:PhenotypicFeature mondo UMLS:C4020882|UMLS:C4021789 Any abnormality of the vertebral column. http://purl.obolibrary.org/obo/HP_0000925 Abnormal spine|Abnormality of the spine|Abnormality of the vertebral column|Abnormality of the backbone|Abnormal vertebral column hposlim_core HP:0000924 Abnormality of the skeletal system biolink:PhenotypicFeature mondo UMLS:C4021790 An abnormality of the skeletal system. http://purl.obolibrary.org/obo/HP_0000924 Skeletal abnormalities|Skeletal anomalies|Abnormality of the skeletal system HP:0000927 Abnormality of skeletal maturation biolink:PhenotypicFeature mondo UMLS:C4025818 The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. http://purl.obolibrary.org/obo/HP_0000927 Abnormality of skeletal maturation HP:0000926 Platyspondyly biolink:PhenotypicFeature mondo UMLS:C1844704 A flattened vertebral body shape with reduced distance between the vertebral endplates. http://purl.obolibrary.org/obo/HP_0000926 Flattened vertebral bodies|Flat vertebral bodies|Flattened vertebrae hposlim_core HGNC:218 ADAMTS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/218 HGNC:216 ADAM9 biolink:OntologyClass mondo http://identifiers.org/hgnc/216 GO:0098542 defense response to other organism biolink:OntologyClass mondo Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. http://purl.obolibrary.org/obo/GO_0098542 CHEBI:27573 silicon atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_27573 Si|silicio|silicon|silicium|Silicon|silicon|Silizium|14Si HGNC:225 ADAR biolink:OntologyClass mondo http://identifiers.org/hgnc/225 GO:0001649 osteoblast differentiation biolink:OntologyClass mondo The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. http://purl.obolibrary.org/obo/GO_0001649 osteoblast cell differentiation MONDO:0003900 connective tissue disease biolink:Disease mondo MESH:D003240|SCTID:105969002|NCIT:C26729|DOID:65|UMLS:C0009782|COHD:253549 A disease involving the connective tissue. SNOMEDCT:105969002|UMLS:C0009782|NCIT:C26729|MESH:D003240|DOID:65 http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease or disorder|tissue disease, connective|primary disorder of connective tissue|connective tissue diseases|disease of connective tissue|connective tissue disorder|connective tissue disorders|disease, connective tissue|disorder of connective tissue|disorder of connective tissue|connective tissue disease|disease or disorder of connective tissue MONDO:0003901 cerebellar hemangioblastoma biolink:Disease mondo NCIT:C5146|DOID:6500|UMLS:C1332900 A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). DOID:6500|UMLS:C1332900|NCIT:C5146 http://purl.obolibrary.org/obo/MONDO_0003901 angioblastoma of cerebellum|cerebellar angioblastoma|cerebellum hemangioblastoma|hemangioblastoma of the cerebellum|angioblastoma of the cerebellum|cerebellar hemangioblastoma|hemangioblastoma of cerebellum|cerebellar capillary hemangioblastoma HP:0000953 Hyperpigmentation of the skin biolink:PhenotypicFeature mondo MSH:D017495|UMLS:C0162834|SNOMEDCT_US:4830009|SNOMEDCT_US:49765009 A darkening of the skin related to an increase in melanin production and deposition. http://purl.obolibrary.org/obo/HP_0000953 Increased skin pigmentation|Melanodermia|Cutaneous hyperpigmentation|Patchy darkened skin|Hyperpigmented lesion|Melanoderma|Skin hyperpigmentation UBERON:0009117 indifferent gonad biolink:AnatomicalEntity mondo A gonad prior to differentiating into a definitive testis or ovary. http://purl.obolibrary.org/obo/UBERON_0009117 gonad rudiment HP:0000952 Jaundice biolink:PhenotypicFeature mondo MSH:D007565|SNOMEDCT_US:18165001|UMLS:C0022346 Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. http://purl.obolibrary.org/obo/HP_0000952 Yellowing of the skin|Yellow skin|Icterus|Jaundice HP:0000951 Abnormality of the skin biolink:PhenotypicFeature mondo SNOMEDCT_US:199879009|UMLS:C0037268|SNOMEDCT_US:95320005|MSH:D012868|UMLS:C0037274|MSH:D012871 An abnormality of the skin. http://purl.obolibrary.org/obo/HP_0000951 dermatopathy|Abnormality of the skin|dermopathy|Skin abnormality hposlim_core UBERON:0009114 cervical thymus biolink:AnatomicalEntity mondo A mature thymus that is entirely part of the cervical region. http://purl.obolibrary.org/obo/UBERON_0009114 UBERON:0009115 thoracic thymus biolink:AnatomicalEntity mondo A mature thymus that is entirely part of thoracic region. http://purl.obolibrary.org/obo/UBERON_0009115 MONDO:0003910 mixed cell uveal melanoma biolink:Disease mondo NCIT:C35781|UMLS:C1334782|DOID:6522|EFO:1000380 A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. NCIT:C35781|UMLS:C1334782|DOID:6522 http://purl.obolibrary.org/obo/MONDO_0003910 mixed cell uveal melanoma MONDO:0003911 ciliary body mixed cell melanoma biolink:Disease mondo DOID:6523|UMLS:C1333051|NCIT:C35783 A mixed cell uveal melanoma that involves the ciliary body. DOID:6523|NCIT:C35783|UMLS:C1333051 http://purl.obolibrary.org/obo/MONDO_0003911 ciliary body mixed cell melanoma|mixed cell uveal melanoma of ciliary body|ciliary body mixed cell uveal melanoma MONDO:0003912 malignant ciliary body melanoma biolink:Disease mondo ICD9:190.8|DOID:6524|NCIT:C4558|SCTID:255015006|UMLS:C0346379 A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor. DOID:6524|SNOMEDCT:255015006|NCIT:C4558|UMLS:C0346379 http://purl.obolibrary.org/obo/MONDO_0003912 malignant melanoma of ciliary body|ciliary body melanoma (disease)|melanoma (disease) of ciliary body|malignant melanoma of the ciliary body|melanoma of ciliary body|ciliary body malignant melanoma|melanoma of the ciliary body|ciliary body melanoma HP:0000964 Eczema biolink:PhenotypicFeature mondo MSH:D004485|UMLS:C0013595|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000 Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. http://purl.obolibrary.org/obo/HP_0000964 Eczema HP:0000967 Petechiae biolink:PhenotypicFeature mondo MSH:D011693|SNOMEDCT_US:50091001|SNOMEDCT_US:271813007|MEDDRA:10034754|UMLS:C0031256 Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. http://purl.obolibrary.org/obo/HP_0000967 hposlim_core HP:0000966 Hypohidrosis biolink:PhenotypicFeature mondo MSH:D007007|SNOMEDCT_US:45004005|MEDDRA:10021013|UMLS:C0020620 Abnormally diminished capacity to sweat. http://purl.obolibrary.org/obo/HP_0000966 Sweating, decreased|Inadequate sweating|Decreased ability to sweat|Oligohidrosis|Decreased sweating hposlim_core HP:0000969 Edema biolink:PhenotypicFeature mondo SNOMEDCT_US:423666004|MSH:D004487|SNOMEDCT_US:20741006|SNOMEDCT_US:79654002|UMLS:C0013604|SNOMEDCT_US:267038008 An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. http://purl.obolibrary.org/obo/HP_0000969 Dropsy|Water retention|Oedema|Hydrops|Fluid retention HGNC:7414 MT-ATP6 biolink:OntologyClass mondo http://identifiers.org/hgnc/7414 HGNC:7419 MT-CO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7419 HP:0000962 Hyperkeratosis biolink:PhenotypicFeature mondo SNOMEDCT_US:396228006|SNOMEDCT_US:26996000|UMLS:C0870082|MEDDRA:10020649|SNOMEDCT_US:399955009 Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. http://purl.obolibrary.org/obo/HP_0000962 hposlim_core MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern biolink:Disease mondo DOID:6512|UMLS:C1518748|NCIT:C39989 A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue. DOID:6512|UMLS:C1518748|NCIT:C39989 http://purl.obolibrary.org/obo/MONDO_0003906 hepatoid pattern ovarian yolk sac tumor|ovarian yolk Sac tumor, hepatoid pattern MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern biolink:Disease mondo DOID:6514|UMLS:C1518749|NCIT:C39987 A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues. DOID:6514|UMLS:C1518749|NCIT:C39987 http://purl.obolibrary.org/obo/MONDO_0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern|polyvesicular vitelline pattern ovarian yolk sac tumor MONDO:0003908 clivus meningioma biolink:Disease mondo UMLS:C1333073|DOID:6517|NCIT:C5289 A meningioma that affects the clivus. UMLS:C1333073|DOID:6517|NCIT:C5289 http://purl.obolibrary.org/obo/MONDO_0003908 meningioma of the clivus|meningioma of clivus|clivus of occipital bone meningioma (disease)|meningioma (disease) of clivus of occipital bone MONDO:0003909 Bartholin gland adenomyoma biolink:Disease mondo DOID:6518|NCIT:C40300|UMLS:C1511049 A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture. NCIT:C40300|DOID:6518|UMLS:C1511049 http://purl.obolibrary.org/obo/MONDO_0003909 adenomyoma of major vestibular gland|Bartholin gland adenomyoma|major vestibular gland adenomyoma MONDO:0003902 brain stem hemangioblastoma biolink:Disease mondo UMLS:C1332611|DOID:6501|NCIT:C5147 A hemangioblastoma that involves the brainstem. DOID:6501|UMLS:C1332611|NCIT:C5147 http://purl.obolibrary.org/obo/MONDO_0003902 angioblastoma of brainstem|brainstem angioblastoma|hemangioblastoma of brainstem|brain stem hemangioblastoma|angioblastoma of brain stem|brain stem capillary hemangioblastoma|hemangioblastoma of brain stem|brainstem hemangioblastoma|hemangioblastoma of the brain stem|angioblastoma of the brain stem|brain stem angioblastoma|hemangioblastoma of the brainstem|angioblastoma of the brainstem MONDO:0003903 benign vaginal mixed tumor biolink:Disease mondo DOID:6505|UMLS:C1511107|NCIT:C40280 A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells. NCIT:C40280|DOID:6505|UMLS:C1511107 http://purl.obolibrary.org/obo/MONDO_0003903 vaginal spindle cell epithelioma|benign vaginal mixed tumor MONDO:0003904 lung occult squamous cell carcinoma biolink:Disease mondo NCIT:C6686|UMLS:C1335100|DOID:6510 A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. DOID:6510|NCIT:C6686|UMLS:C1335100 http://purl.obolibrary.org/obo/MONDO_0003904 occult squamous cell lung carcinoma|occult squamous cell carcinoma of the lung|occult squamous cell carcinoma of lung MONDO:0003905 ovarian yolk sac tumor, glandular pattern biolink:Disease mondo DOID:6511|UMLS:C1518747|NCIT:C39988 A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures. DOID:6511|UMLS:C1518747|NCIT:C39988 http://purl.obolibrary.org/obo/MONDO_0003905 ovarian yolk Sac tumor, glandular pattern|glandular pattern ovarian yolk sac tumor HP:0000939 Osteoporosis biolink:PhenotypicFeature mondo MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456 Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). http://purl.obolibrary.org/obo/HP_0000939 GO:0098588 bounding membrane of organelle biolink:OntologyClass mondo The lipid bilayer that forms the outer-most layer of an organelle. http://purl.obolibrary.org/obo/GO_0098588 HP:0000932 Abnormal posterior cranial fossa morphology biolink:PhenotypicFeature mondo UMLS:C3280768 An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. http://purl.obolibrary.org/obo/HP_0000932 Abnormality of the posterior cranial fossa|Posterior fossa anomaly|Abnormality of the posterior fossa HGNC:7427 MT-CYB biolink:OntologyClass mondo http://identifiers.org/hgnc/7427 HGNC:7422 MT-CO3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7422 GO:0098589 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0098589 HGNC:7421 MT-CO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7421 GO:0098590 plasma membrane region biolink:OntologyClass mondo A membrane that is a (regional) part of the plasma membrane. http://purl.obolibrary.org/obo/GO_0098590 region of plasma membrane HP:0000944 Abnormality of the metaphysis biolink:PhenotypicFeature mondo UMLS:C4025814 An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. http://purl.obolibrary.org/obo/HP_0000944 Abnormality of the wide portion of a long bone HGNC:7436 MTHFR biolink:OntologyClass mondo http://identifiers.org/hgnc/7436 HP:0000940 Abnormal diaphysis morphology biolink:PhenotypicFeature mondo UMLS:C4021787 An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. http://purl.obolibrary.org/obo/HP_0000940 Abnormality of the diaphyses|Abnormality involving the diaphyses of the limbs|Anomaly of the limb diaphyses|Anomaly of the limb diaphyses morphology|Abnormal shape of shaft of long bone|Abnormality of shaft of long bone of the limbs HGNC:7432 MTHFD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7432 CL:0000240 stratified squamous epithelial cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000240 CL:0000242 Merkel cell biolink:Cell mondo FMA:70548 A modified epidermal cell located in the stratum basale. They are found mostly in areas where sensory perception is acute. Merkel cells are closely associated with an expanded terminal bulb of an afferent myelinated nerve fiber. http://purl.obolibrary.org/obo/CL_0000242 Merkel's cell CL:0000243 obsolete glial cell (sensu Vertebrata) biolink:Cell mondo A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear. http://purl.obolibrary.org/obo/CL_0000243 CL:0000244 transitional epithelial cell biolink:Cell mondo FMA:66778 A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. http://purl.obolibrary.org/obo/CL_0000244 GO:1904729 regulation of intestinal lipid absorption biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of intestinal lipid absorption. http://purl.obolibrary.org/obo/GO_1904729 CL:0000255 eukaryotic cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000255 ENVO:01000216 montane shrubland biome biolink:OntologyClass mondo A montane shrubland biome is a shrubland biome which occurs in regions elevated above sea level and which has community structure determined by elevation-dependent environmental conditions. http://purl.obolibrary.org/obo/ENVO_01000216 CL:0000226 single nucleate cell biolink:Cell mondo A cell with a single nucleus. http://purl.obolibrary.org/obo/CL_0000226 ENVO:01000219 anthropogenic terrestrial biome biolink:OntologyClass mondo An anthropogenic terrestrial biome is a terrestrial biome which has community structures determined by human activity. http://purl.obolibrary.org/obo/ENVO_01000219 human biome|anthrome GO:1904731 positive regulation of intestinal lipid absorption biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of intestinal lipid absorption. http://purl.obolibrary.org/obo/GO_1904731 upregulation of intestinal lipid absorption|up-regulation of intestinal lipid absorption|up regulation of intestinal lipid absorption|activation of intestinal lipid absorption GO:1904730 negative regulation of intestinal lipid absorption biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of intestinal lipid absorption. http://purl.obolibrary.org/obo/GO_1904730 down-regulation of intestinal lipid absorption|down regulation of intestinal lipid absorption|inhibition of intestinal lipid absorption|downregulation of intestinal lipid absorption ECTO:7000045 exposure to stellar radiation biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to stellar radiation. http://purl.obolibrary.org/obo/ECTO_7000045 stellar radiation exposure MONDO:0025397 canine distemper biolink:Disease mondo MESH:D004216 A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species. MESH:D004216 http://purl.obolibrary.org/obo/MONDO_0025397 Distempers|canine Distempers|distemper, canine|canine distemper|Distempers, canine HGNC:291 ADSL biolink:OntologyClass mondo http://identifiers.org/hgnc/291 CL:0000221 ectodermal cell biolink:Cell mondo FMA:72549 A cell of the outer of the three germ layers of the embryo. http://purl.obolibrary.org/obo/CL_0000221 ectoderm cell CL:0000222 mesodermal cell biolink:Cell mondo FMA:72554 A cell of the middle germ layer of the embryo. http://purl.obolibrary.org/obo/CL_0000222 mesoblast|mesoderm cell CL:0000223 endodermal cell biolink:Cell mondo FMA:72555 A cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/CL_0000223 endoderm cell CL:0000225 anucleate cell biolink:Cell mondo FMA:68647 A cell that lacks a nucleus. http://purl.obolibrary.org/obo/CL_0000225 non-nucleated cell MONDO:0025389 brucellosis, bovine biolink:Disease mondo MESH:D002007 A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent. MESH:D002007 http://purl.obolibrary.org/obo/MONDO_0025389 disease, bang|Bangs disease|Brucelloses, bovine|disease, bang's|bang disease|bovine Brucelloses|bang's disease|bovine brucellosis ENVO:01000203 environmental condition biolink:OntologyClass mondo An environmental condition is a range of a determinate quality or combination of qualities that are present in an environmental system. http://purl.obolibrary.org/obo/ENVO_01000203 GO:1904748 regulation of apoptotic process involved in development biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of apoptotic process involved in development. http://purl.obolibrary.org/obo/GO_1904748 regulation of commitment to apoptosis involved in development of an anatomical structure|regulation of apoptosis involved in development of an anatomical structure|regulation of apoptotic cell death involved in anatomical structure development|regulation of activation of apoptosis involved in development of an anatomical structure|regulation of apoptosis involved in anatomical structure development|regulation of commitment to apoptosis involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in development of an anatomical structure|regulation of apoptotic programmed cell death involved in development of an anatomical structure|regulation of type I programmed cell death involved in development of an anatomical structure|regulation of apoptotic program involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in development of an anatomical structure|regulation of activation of apoptosis involved in anatomical structure development|regulation of apoptotic process involved in development of an anatomical structure|regulation of induction of apoptosis involved in development of an anatomical structure|regulation of apoptosis activator activity involved in development of an anatomical structure|regulation of apoptotic programmed cell death involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in anatomical structure development|regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in anatomical structure development|regulation of apoptotic process involved in anatomical structure development|regulation of type I programmed cell death involved in anatomical structure development|regulation of apoptotic program involved in anatomical structure development|regulation of apoptosis activator activity involved in anatomical structure development|regulation of apoptosis signaling involved in development of an anatomical structure|regulation of induction of apoptosis involved in anatomical structure development|regulation of apoptotic cell death involved in development of an anatomical structure|regulation of signaling (initiator) caspase activity involved in anatomical structure development|regulation of apoptosis signaling involved in anatomical structure development GO:1904747 positive regulation of apoptotic process involved in development biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development. http://purl.obolibrary.org/obo/GO_1904747 upregulation of type I programmed cell death involved in development of an anatomical structure|up regulation of apoptotic process involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of apoptotic process involved in development|up regulation of activation of apoptosis involved in anatomical structure development|positive regulation of type I programmed cell death involved in anatomical structure development|up regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up regulation of apoptotic program involved in development of an anatomical structure|up regulation of apoptotic cell death involved in development of an anatomical structure|positive regulation of apoptotic programmed cell death involved in anatomical structure development|upregulation of induction of apoptosis involved in development of an anatomical structure|positive regulation of induction of apoptosis involved in anatomical structure development|activation of type I programmed cell death involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of apoptotic process involved in anatomical structure development|positive regulation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of apoptotic cell death involved in anatomical structure development|positive regulation of apoptotic program involved in anatomical structure development|up regulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in development of an anatomical structure|up-regulation of apoptosis involved in anatomical structure development|up-regulation of commitment to apoptosis involved in anatomical structure development|activation of apoptosis activator activity involved in development of an anatomical structure|activation of induction of apoptosis involved in development of an anatomical structure|activation of apoptosis signaling involved in anatomical structure development|positive regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in anatomical structure development|up-regulation of apoptotic process involved in development of an anatomical structure|activation of apoptotic programmed cell death involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in anatomical structure development|activation of apoptotic cell death involved in development of an anatomical structure|upregulation of apoptosis signaling involved in anatomical structure development|up-regulation of apoptotic program involved in development of an anatomical structure|up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of apoptotic cell death involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in anatomical structure development|activation of commitment to apoptosis involved in development of an anatomical structure|upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up regulation of induction of apoptosis by p53 involved in anatomical structure development|up regulation of apoptotic program involved in anatomical structure development|activation of apoptotic process involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in anatomical structure development|activation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic process involved in anatomical structure development|upregulation of type I programmed cell death involved in anatomical structure development|activation of activation of apoptosis involved in development of an anatomical structure|up regulation of apoptosis signaling involved in development of an anatomical structure|activation of type I programmed cell death involved in anatomical structure development|upregulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic cell death involved in anatomical structure development|activation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of induction of apoptosis involved in anatomical structure development|upregulation of apoptosis activator activity involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in anatomical structure development|activation of induction of apoptosis involved in anatomical structure development|activation of apoptosis activator activity involved in anatomical structure development|upregulation of activation of apoptosis involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of apoptotic process involved in anatomical structure development|up-regulation of apoptotic program involved in anatomical structure development|activation of apoptotic cell death involved in anatomical structure development|upregulation of apoptotic cell death involved in development of an anatomical structure|up-regulation of apoptotic process involved in development|activation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptosis signaling involved in anatomical structure development|up-regulation of induction of apoptosis by p53 involved in anatomical structure development|positive regulation of apoptotic cell death involved in anatomical structure development|activation of apoptotic process involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of induction of apoptosis involved in development of an anatomical structure|activation of commitment to apoptosis involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|up-regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of signaling (initiator) caspase activity involved in anatomical structure development|activation of activation of apoptosis involved in anatomical structure development|up regulation of apoptosis signaling involved in anatomical structure development|upregulation of commitment to apoptosis involved in anatomical structure development|up regulation of programmed cell death by apoptosis involved in development of an anatomical structure|activation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptosis involved in anatomical structure development|activation of apoptotic program involved in development of an anatomical structure|upregulation of apoptotic program involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of activation of apoptosis involved in anatomical structure development|up regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in anatomical structure development|upregulation of apoptotic process involved in development of an anatomical structure|up regulation of apoptotic process involved in development|up regulation of commitment to apoptosis involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in anatomical structure development|up regulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of induction of apoptosis involved in development of an anatomical structure|up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic cell death involved in anatomical structure development|activation of programmed cell death by apoptosis involved in development of an anatomical structure|positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in anatomical structure development|up regulation of activation of apoptosis involved in development of an anatomical structure|positive regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of apoptosis signaling involved in anatomical structure development|activation of apoptotic process involved in development|up-regulation of induction of apoptosis involved in anatomical structure development|up regulation of programmed cell death by apoptosis involved in anatomical structure development|positive regulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of apoptotic program involved in anatomical structure development|positive regulation of commitment to apoptosis involved in anatomical structure development|upregulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of apoptosis involved in anatomical structure development|activation of induction of apoptosis by p53 involved in anatomical structure development|positive regulation of induction of apoptosis involved in development of an anatomical structure|upregulation of apoptotic process involved in anatomical structure development|up regulation of type I programmed cell death involved in anatomical structure development|positive regulation of apoptotic program involved in development of an anatomical structure|positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of apoptotic cell death involved in development of an anatomical structure|up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up-regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic program involved in anatomical structure development|activation of apoptosis signaling involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in anatomical structure development|positive regulation of apoptotic process involved in development of an anatomical structure|up regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptosis signaling involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of commitment to apoptosis involved in anatomical structure development|positive regulation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of apoptosis involved in anatomical structure development|up regulation of induction of apoptosis involved in anatomical structure development|up-regulation of signaling (initiator) caspase activity involved in anatomical structure development MONDO:0025381 avian leukosis biolink:Disease mondo UMLS:C0004421|MESH:D001353 A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere. MESH:D001353|UMLS:C0004421 http://purl.obolibrary.org/obo/MONDO_0025381 leukosis, Avian|Avian Leukoses|leukoses, Avian ECTO:7000058 exposure to gaseous environmental material biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to gaseous environmental material. http://purl.obolibrary.org/obo/ECTO_7000058 gaseous environmental material exposure CL:0000237 keratinizing barrier epithelial cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000237 GO:1904746 negative regulation of apoptotic process involved in development biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development. http://purl.obolibrary.org/obo/GO_1904746 down-regulation of type I programmed cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in development|down regulation of apoptosis signaling involved in anatomical structure development|inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure|negative regulation of type I programmed cell death involved in development of an anatomical structure|inhibition of type I programmed cell death involved in anatomical structure development|negative regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of induction of apoptosis involved in anatomical structure development|inhibition of apoptosis activator activity involved in anatomical structure development|down-regulation of apoptosis activator activity involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptotic program involved in anatomical structure development|down regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic cell death involved in anatomical structure development|downregulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of apoptosis involved in anatomical structure development|inhibition of induction of apoptosis by p53 involved in anatomical structure development|inhibition of apoptotic cell death involved in anatomical structure development|down regulation of activation of apoptosis involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in anatomical structure development|downregulation of apoptotic process involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in anatomical structure development|downregulation of apoptotic program involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in development of an anatomical structure|downregulation of activation of apoptosis involved in anatomical structure development|inhibition of apoptosis signaling involved in development of an anatomical structure|down regulation of type I programmed cell death involved in development of an anatomical structure|down regulation of apoptotic process involved in development|negative regulation of apoptosis signaling involved in anatomical structure development|negative regulation of type I programmed cell death involved in anatomical structure development|inhibition of signaling (initiator) caspase activity involved in anatomical structure development|down-regulation of type I programmed cell death involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in development of an anatomical structure|down regulation of induction of apoptosis involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in anatomical structure development|down-regulation of apoptosis activator activity involved in anatomical structure development|negative regulation of apoptosis involved in development of an anatomical structure|down-regulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of induction of apoptosis involved in anatomical structure development|down-regulation of apoptosis involved in development of an anatomical structure|negative regulation of commitment to apoptosis involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in anatomical structure development|down regulation of commitment to apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in development of an anatomical structure|down regulation of apoptosis involved in anatomical structure development|negative regulation of activation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of activation of apoptosis involved in anatomical structure development|down regulation of type I programmed cell death involved in anatomical structure development|downregulation of apoptotic process involved in anatomical structure development|down regulation of apoptotic program involved in development of an anatomical structure|down regulation of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic cell death involved in development of an anatomical structure|inhibition of apoptotic process involved in development|downregulation of apoptotic process involved in development|down regulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of apoptosis signaling involved in anatomical structure development|downregulation of type I programmed cell death involved in development of an anatomical structure|downregulation of apoptotic program involved in anatomical structure development|down-regulation of apoptotic cell death involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in anatomical structure development|downregulation of apoptosis signaling involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of induction of apoptosis involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in anatomical structure development|down-regulation of signaling (initiator) caspase activity involved in anatomical structure development|downregulation of apoptosis activator activity involved in development of an anatomical structure|downregulation of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptosis involved in development of an anatomical structure|inhibition of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic programmed cell death involved in development of an anatomical structure|negative regulation of apoptosis involved in anatomical structure development|down-regulation of commitment to apoptosis involved in anatomical structure development|down-regulation of apoptosis involved in anatomical structure development|inhibition of commitment to apoptosis involved in development of an anatomical structure|negative regulation of commitment to apoptosis involved in anatomical structure development|down-regulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of apoptotic cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in development of an anatomical structure|negative regulation of activation of apoptosis involved in anatomical structure development|down-regulation of apoptotic program involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in anatomical structure development|down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of activation of apoptosis involved in development of an anatomical structure|negative regulation of apoptotic process involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in anatomical structure development|negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of apoptotic program involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in anatomical structure development|downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of induction of apoptosis by p53 involved in anatomical structure development|negative regulation of apoptotic cell death involved in anatomical structure development|down regulation of apoptotic program involved in anatomical structure development|down-regulation of apoptotic cell death involved in anatomical structure development|downregulation of type I programmed cell death involved in anatomical structure development|down regulation of apoptotic process involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in anatomical structure development|down regulation of apoptosis signaling involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in anatomical structure development|inhibition of type I programmed cell death involved in development of an anatomical structure|downregulation of induction of apoptosis involved in anatomical structure development|downregulation of apoptosis signaling involved in anatomical structure development|downregulation of apoptosis activator activity involved in anatomical structure development|negative regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of commitment to apoptosis involved in anatomical structure development|inhibition of apoptotic process involved in anatomical structure development|inhibition of apoptosis involved in anatomical structure development|inhibition of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptosis activator activity involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of activation of apoptosis involved in anatomical structure development|negative regulation of apoptotic program involved in anatomical structure development|downregulation of apoptotic cell death involved in development of an anatomical structure|inhibition of induction of apoptosis by p53 involved in development of an anatomical structure|down-regulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of apoptotic cell death involved in anatomical structure development|downregulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of apoptotic process involved in anatomical structure development|negative regulation of induction of apoptosis by p53 involved in anatomical structure development|downregulation of apoptosis involved in development of an anatomical structure|down-regulation of apoptotic program involved in anatomical structure development|inhibition of apoptotic program involved in development of an anatomical structure|inhibition of apoptotic cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in anatomical structure development|downregulation of activation of apoptosis involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|downregulation of signaling (initiator) caspase activity involved in anatomical structure development|negative regulation of apoptosis signaling involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure MONDO:0025382 sarcoma, avian biolink:Disease mondo MESH:D001357 Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses. MESH:D001357 http://purl.obolibrary.org/obo/MONDO_0025382 Avian sarcoma|sarcoma, Rous|Rous sarcoma|Avian sarcomas|sarcomas, Avian MONDO:0025385 bluetongue biolink:Disease mondo UMLS:C0005866|MESH:D001819 A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet. UMLS:C0005866|MESH:D001819 http://purl.obolibrary.org/obo/MONDO_0025385 tongue, blue|blue tongue ECTO:7000063 exposure to liquid water biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to liquid water. http://purl.obolibrary.org/obo/ECTO_7000063 liquid water exposure CL:0000232 erythrocyte biolink:Cell mondo FMA:81100|CALOHA:TS-0290|BTO:0000424 A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. http://purl.obolibrary.org/obo/CL_0000232 red blood cell|RBC ECTO:7000064 exposure to air biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to air. http://purl.obolibrary.org/obo/ECTO_7000064 air exposure CHEBI:132233 1-phenylpropan-2-amine biolink:ChemicalSubstance mondo A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group. http://purl.obolibrary.org/obo/CHEBI_132233 1-phenylpropan-2-amine CL:0000233 platelet biolink:Cell mondo CALOHA:TS-0803|FMA:62851|BTO:0000132 A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. http://purl.obolibrary.org/obo/CL_0000233 enucleate thrombocyte|anucleate thrombocyte|blood platelet CL:0000234 phagocyte biolink:Cell mondo FMA:83806|BTO:0001044 Any cell capable of ingesting particulate matter via phagocytosis. http://purl.obolibrary.org/obo/CL_0000234 CL:0000235 macrophage biolink:Cell mondo FMA:83585|CALOHA:TS-0587|FMA:63261|BTO:0000801 A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://purl.obolibrary.org/obo/CL_0000235 histiocyte CL:0000236 B cell biolink:Cell mondo BTO:0000776|CALOHA:TS-0068|FMA:62869|VHOG:0001480 A lymphocyte of B lineage that is capable of B cell mediated immunity. http://purl.obolibrary.org/obo/CL_0000236 B-lymphocyte|B-cell|B lymphocyte GO:0001578 microtubule bundle formation biolink:OntologyClass mondo A process that results in a parallel arrangement of microtubules. http://purl.obolibrary.org/obo/GO_0001578 microtubule bundling ECTO:7000069 exposure to organic material biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to organic material. http://purl.obolibrary.org/obo/ECTO_7000069 organic material exposure GO:0001570 vasculogenesis biolink:OntologyClass mondo The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. http://purl.obolibrary.org/obo/GO_0001570 vascular morphogenesis HGNC:24154 BMPER biolink:OntologyClass mondo http://identifiers.org/hgnc/24154 ECTO:7000068 exposure to particulate matter biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to particulate matter. http://purl.obolibrary.org/obo/ECTO_7000068 particulate matter exposure ECTO:7000073 exposure to mineral material biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to mineral material. http://purl.obolibrary.org/obo/ECTO_7000073 mineral material exposure ECTO:7000075 exposure to permafrost biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to permafrost. http://purl.obolibrary.org/obo/ECTO_7000075 permafrost exposure ECTO:7000070 exposure to snow biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to snow. http://purl.obolibrary.org/obo/ECTO_7000070 snow exposure GO:0098531 ligand-activated transcription factor activity biolink:OntologyClass mondo A DNA-binding transcription factor activity regulated by binding to a ligand and that modulates the transcription of specific gene sets. Examples include the lac and trp repressors in E.coli and steroid hormone receptors. http://purl.obolibrary.org/obo/GO_0098531 transcription factor activity, direct ligand regulated sequence-specific DNA binding|direct ligand regulated sequence-specific DNA binding transcription factor activity HGNC:288 ADRB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/288 GO:1902106 negative regulation of leukocyte differentiation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/GO_1902106 down regulation of leukocyte differentiation|downregulation of leukocyte differentiation|inhibition of leukocyte differentiation|down-regulation of immune cell differentiation|down-regulation of leucocyte differentiation|negative regulation of leucocyte differentiation|negative regulation of immune cell differentiation|down regulation of leucocyte differentiation|down regulation of immune cell differentiation|downregulation of leucocyte differentiation|inhibition of leucocyte differentiation|inhibition of immune cell differentiation|downregulation of immune cell differentiation|down-regulation of leukocyte differentiation CL:0000215 barrier cell biolink:Cell mondo A cell whose primary function is to prevent the transport of stuff across compartments. http://purl.obolibrary.org/obo/CL_0000215 GO:1902107 positive regulation of leukocyte differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/GO_1902107 up regulation of leucocyte differentiation|up regulation of immune cell differentiation|activation of leucocyte differentiation|activation of immune cell differentiation|positive regulation of immune cell differentiation|positive regulation of leucocyte differentiation|up-regulation of leukocyte differentiation|upregulation of leucocyte differentiation|upregulation of immune cell differentiation|up regulation of leukocyte differentiation|activation of leukocyte differentiation|up-regulation of immune cell differentiation|up-regulation of leucocyte differentiation|upregulation of leukocyte differentiation HGNC:286 ADRB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/286 CL:0000216 Sertoli cell biolink:Cell mondo BTO:0001238|CALOHA:TS-0922|FMA:72298|VHOG:0001348 A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier. http://purl.obolibrary.org/obo/CL_0000216 GO:1902105 regulation of leukocyte differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/GO_1902105 regulation of immune cell differentiation|regulation of leucocyte differentiation CL:0000219 motile cell biolink:Cell mondo A cell that moves by its own activities. http://purl.obolibrary.org/obo/CL_0000219 HGNC:282 ADRA2B biolink:OntologyClass mondo http://identifiers.org/hgnc/282 ECTO:7000083 exposure to chemically enriched sediment biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to chemically enriched sediment. http://purl.obolibrary.org/obo/ECTO_7000083 chemically enriched sediment exposure CL:0000210 photoreceptor cell biolink:Cell mondo FBbt:00004211|CALOHA:TS-0868|FMA:86740|BTO:0001060 A cell specialized to detect and transduce light. http://purl.obolibrary.org/obo/CL_0000210 CL:0000211 electrically active cell biolink:Cell mondo A cell whose function is determined by the generation or the reception of an electric signal. http://purl.obolibrary.org/obo/CL_0000211 HGNC:24160 BEAN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24160 CL:0000213 lining cell biolink:Cell mondo A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. http://purl.obolibrary.org/obo/CL_0000213 boundary cell HGNC:257 ADK biolink:OntologyClass mondo http://identifiers.org/hgnc/257 GO:1902117 positive regulation of organelle assembly biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of organelle assembly. http://purl.obolibrary.org/obo/GO_1902117 up-regulation of organelle assembly|activation of organelle assembly|upregulation of organelle assembly|up regulation of organelle assembly GO:1902115 regulation of organelle assembly biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of organelle assembly. http://purl.obolibrary.org/obo/GO_1902115 HGNC:26790 WDR72 biolink:OntologyClass mondo http://identifiers.org/hgnc/26790 HGNC:251 ADH1C biolink:OntologyClass mondo http://identifiers.org/hgnc/251 GO:1902116 negative regulation of organelle assembly biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly. http://purl.obolibrary.org/obo/GO_1902116 down regulation of organelle assembly|inhibition of organelle assembly|down-regulation of organelle assembly|downregulation of organelle assembly HGNC:250 ADH1B biolink:OntologyClass mondo http://identifiers.org/hgnc/250 GO:1902113 nucleotide phosphorylation involved in DNA repair biolink:OntologyClass mondo Any nucleotide phosphorylation that is involved in DNA repair. http://purl.obolibrary.org/obo/GO_1902113 GO:1904775 positive regulation of ubiquinone biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of ubiquinone biosynthetic process. http://purl.obolibrary.org/obo/GO_1904775 up regulation of coenzyme Q biosynthetic process|up-regulation of ubiquinone formation|up regulation of coenzyme Q biosynthesis|activation of coenzyme Q10 biosynthesis|activation of coenzyme Q10 biosynthetic process|activation of ubiquinone formation|upregulation of coenzyme Q6 biosynthesis|upregulation of coenzyme Q6 biosynthetic process|upregulation of ubiquinone anabolism|activation of coenzyme Q8 biosynthetic process|activation of coenzyme Q biosynthetic process|activation of coenzyme Q biosynthesis|up-regulation of ubiquinone biosynthesis|activation of coenzyme Q8 biosynthesis|up-regulation of ubiquinone biosynthetic process|activation of coenzyme Q9 biosynthetic process|upregulation of coenzyme Q8 biosynthetic process|activation of coenzyme Q9 biosynthesis|positive regulation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q biosynthesis|upregulation of coenzyme Q8 biosynthesis|upregulation of coenzyme Q9 biosynthesis|upregulation of coenzyme Q9 biosynthetic process|up regulation of ubiquinone biosynthesis|positive regulation of coenzyme Q6 biosynthesis|positive regulation of coenzyme Q6 biosynthetic process|positive regulation of ubiquinone anabolism|up regulation of ubiquinone biosynthetic process|upregulation of ubiquinone synthesis|activation of ubiquinone biosynthesis|activation of ubiquinone biosynthetic process|positive regulation of coenzyme Q8 biosynthetic process|up regulation of ubiquinone anabolism|upregulation of coenzyme Q biosynthesis|up-regulation of coenzyme Q10 biosynthesis|upregulation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q10 biosynthetic process|up regulation of coenzyme Q6 biosynthetic process|positive regulation of ubiquinone biosynthesis|up regulation of coenzyme Q6 biosynthesis|positive regulation of coenzyme Q9 biosynthetic process|positive regulation of coenzyme Q9 biosynthesis|upregulation of ubiquinone formation|up regulation of coenzyme Q8 biosynthetic process|positive regulation of ubiquinone synthesis|up regulation of coenzyme Q8 biosynthesis|up-regulation of ubiquinone anabolism|up-regulation of coenzyme Q6 biosynthetic process|up regulation of coenzyme Q10 biosynthetic process|up-regulation of coenzyme Q6 biosynthesis|up regulation of coenzyme Q9 biosynthesis|up regulation of coenzyme Q10 biosynthesis|up regulation of coenzyme Q9 biosynthetic process|activation of ubiquinone anabolism|up regulation of ubiquinone synthesis|upregulation of ubiquinone biosynthetic process|upregulation of ubiquinone biosynthesis|positive regulation of coenzyme Q10 biosynthesis|positive regulation of ubiquinone formation|positive regulation of coenzyme Q10 biosynthetic process|up-regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q8 biosynthetic process|up-regulation of coenzyme Q9 biosynthesis|up-regulation of coenzyme Q9 biosynthetic process|up-regulation of coenzyme Q biosynthetic process|up-regulation of ubiquinone synthesis|up regulation of ubiquinone formation|activation of ubiquinone synthesis|up-regulation of coenzyme Q biosynthesis|activation of coenzyme Q6 biosynthetic process|upregulation of coenzyme Q10 biosynthetic process|upregulation of coenzyme Q10 biosynthesis|activation of coenzyme Q6 biosynthesis GO:1904774 negative regulation of ubiquinone biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of ubiquinone biosynthetic process. http://purl.obolibrary.org/obo/GO_1904774 downregulation of ubiquinone biosynthesis|negative regulation of coenzyme Q6 biosynthesis|negative regulation of coenzyme Q6 biosynthetic process|down-regulation of coenzyme Q6 biosynthetic process|inhibition of ubiquinone biosynthetic process|down regulation of coenzyme Q9 biosynthesis|down-regulation of coenzyme Q6 biosynthesis|down regulation of ubiquinone synthesis|inhibition of ubiquinone biosynthesis|down regulation of coenzyme Q9 biosynthetic process|downregulation of ubiquinone biosynthetic process|negative regulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q8 biosynthetic process|negative regulation of coenzyme Q8 biosynthesis|down regulation of coenzyme Q10 biosynthetic process|down-regulation of coenzyme Q8 biosynthesis|inhibition of ubiquinone synthesis|down regulation of coenzyme Q10 biosynthesis|down-regulation of coenzyme Q9 biosynthesis|negative regulation of coenzyme Q9 biosynthetic process|down-regulation of coenzyme Q9 biosynthetic process|down regulation of ubiquinone formation|negative regulation of ubiquinone synthesis|down-regulation of ubiquinone synthesis|negative regulation of coenzyme Q9 biosynthesis|inhibition of coenzyme Q6 biosynthesis|inhibition of coenzyme Q6 biosynthetic process|down-regulation of coenzyme Q biosynthetic process|down-regulation of coenzyme Q biosynthesis|negative regulation of coenzyme Q biosynthesis|inhibition of ubiquinone formation|negative regulation of coenzyme Q biosynthetic process|inhibition of coenzyme Q8 biosynthetic process|downregulation of coenzyme Q10 biosynthetic process|inhibition of coenzyme Q8 biosynthesis|downregulation of coenzyme Q10 biosynthesis|negative regulation of ubiquinone formation|down-regulation of ubiquinone formation|inhibition of coenzyme Q9 biosynthesis|inhibition of coenzyme Q9 biosynthetic process|down regulation of coenzyme Q biosynthetic process|down regulation of coenzyme Q biosynthesis|downregulation of ubiquinone anabolism|downregulation of coenzyme Q6 biosynthesis|negative regulation of ubiquinone biosynthesis|down-regulation of ubiquinone biosynthesis|downregulation of coenzyme Q6 biosynthetic process|down-regulation of ubiquinone biosynthetic process|downregulation of coenzyme Q8 biosynthetic process|inhibition of coenzyme Q10 biosynthesis|downregulation of coenzyme Q8 biosynthesis|inhibition of coenzyme Q10 biosynthetic process|downregulation of coenzyme Q9 biosynthesis|downregulation of coenzyme Q biosynthetic process|downregulation of coenzyme Q biosynthesis|down regulation of ubiquinone biosynthetic process|down regulation of ubiquinone anabolism|downregulation of ubiquinone synthesis|inhibition of coenzyme Q biosynthetic process|downregulation of coenzyme Q9 biosynthetic process|down regulation of ubiquinone biosynthesis|inhibition of coenzyme Q biosynthesis|down regulation of coenzyme Q6 biosynthetic process|down regulation of coenzyme Q6 biosynthesis|inhibition of ubiquinone anabolism|negative regulation of coenzyme Q10 biosynthetic process|negative regulation of coenzyme Q10 biosynthesis|down regulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q10 biosynthesis|down-regulation of coenzyme Q10 biosynthetic process|downregulation of ubiquinone formation|negative regulation of ubiquinone anabolism|down-regulation of ubiquinone anabolism|down regulation of coenzyme Q8 biosynthesis GO:1904783 positive regulation of NMDA glutamate receptor activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of NMDA glutamate receptor activity. http://purl.obolibrary.org/obo/GO_1904783 upregulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of NMDA receptor|positive regulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of NMDA glutamate receptor activity|up regulation of N-methyl-D-aspartate selective glutamate receptor activity|up-regulation of NMDA receptor|up-regulation of N-methyl-D-aspartate selective glutamate receptor activity|activation of N-methyl-D-aspartate selective glutamate receptor activity|up regulation of NMDA glutamate receptor activity|up regulation of NMDA receptor|positive regulation of NMDA receptor|activation of NMDA receptor|up-regulation of NMDA glutamate receptor activity|activation of NMDA glutamate receptor activity GO:1904782 negative regulation of NMDA glutamate receptor activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of NMDA glutamate receptor activity. http://purl.obolibrary.org/obo/GO_1904782 down-regulation of N-methyl-D-aspartate selective glutamate receptor activity|negative regulation of N-methyl-D-aspartate selective glutamate receptor activity|down-regulation of NMDA receptor|down regulation of NMDA glutamate receptor activity|negative regulation of NMDA receptor|inhibition of NMDA glutamate receptor activity|down-regulation of NMDA glutamate receptor activity|down regulation of NMDA receptor|inhibition of NMDA receptor|downregulation of N-methyl-D-aspartate selective glutamate receptor activity|downregulation of NMDA receptor|down regulation of N-methyl-D-aspartate selective glutamate receptor activity|inhibition of N-methyl-D-aspartate selective glutamate receptor activity|downregulation of NMDA glutamate receptor activity CHEBI:39472 1,3,4-thiadiazole biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_39472 1,3,4-thiadiazole GO:0001568 blood vessel development biolink:OntologyClass mondo The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/GO_0001568 MONDO:0001367 chronic congestive splenomegaly biolink:Disease mondo ICD10:D73.2|DOID:11787|ICD9:289.51|SCTID:191382009|COHD:196951|UMLS:C0398661 Chronic form of congestive splenomegaly. UMLS:C0398661|SNOMEDCT:191382009|DOID:11787 http://purl.obolibrary.org/obo/MONDO_0001367 congestive splenomegaly, chronic HGNC:24116 RNASEH2C biolink:OntologyClass mondo http://identifiers.org/hgnc/24116 MONDO:0001366 splenic sequestration biolink:Disease mondo DOID:11786|ICD9:289.52 DOID:11786 http://purl.obolibrary.org/obo/MONDO_0001366 MONDO:0001365 necrosis of ear ossicle biolink:Disease mondo ICD9:385.24|DOID:11783 DOID:11783 http://purl.obolibrary.org/obo/MONDO_0001365 partial loss or necrosis of ear ossicles MONDO:0001364 regular astigmatism biolink:Disease mondo ICD10:H52.22|ICD9:367.21|COHD:380706|UMLS:C0152193|SCTID:68905002|DOID:11781 SNOMEDCT:68905002|DOID:11781|UMLS:C0152193 http://purl.obolibrary.org/obo/MONDO_0001364 HP:0010280 Stomatitis biolink:PhenotypicFeature mondo MSH:D013280|UMLS:C0038362|UMLS:C0149704|SNOMEDCT_US:20607006|SNOMEDCT_US:61170000 Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. http://purl.obolibrary.org/obo/HP_0010280 Gingivostomatitis|Inflammation of the mouth hposlim_core ENVO:01000277 water ice biolink:OntologyClass mondo Ice is water frozen into a solid state. It can appear transparent or opaque bluish-white color, depending on the presence of impurities or air inclusions. The addition of other materials such as soil may further alter its appearance. http://purl.obolibrary.org/obo/ENVO_01000277 ice MONDO:0001369 chronic laryngitis biolink:Disease mondo ICD9:476.0|SCTID:29951006|DOID:11797|ICD10:J37.0|COHD:24970|UMLS:C0155836|NCIT:C26975 Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes. SNOMEDCT:29951006|UMLS:C0155836|DOID:11797|NCIT:C26975 http://purl.obolibrary.org/obo/MONDO_0001369 laryngitis, chronic MONDO:0001368 phthisical cornea biolink:Disease mondo UMLS:C0155102|COHD:381023|ICD9:371.05|SCTID:28143002|DOID:11793 UMLS:C0155102|SNOMEDCT:28143002|DOID:11793 http://purl.obolibrary.org/obo/MONDO_0001368 MONDO:0001363 blind hypertensive eye biolink:Disease mondo ICD9:360.42|SCTID:264008|DOID:11776|UMLS:C0154789|COHD:377551 UMLS:C0154789|DOID:11776|SNOMEDCT:264008 http://purl.obolibrary.org/obo/MONDO_0001363 MONDO:0001362 obsolete leukocoria biolink:Disease mondo COHD:373461|UMLS:C0152458|SCTID:1361009|DOID:11772|ICD10:H44.53|ICD9:360.44 An abnormal white reflection from the retina of the eye. DOID:11772|UMLS:C0152458|SNOMEDCT:1361009 http://purl.obolibrary.org/obo/MONDO_0001362 MONDO:0001361 spontaneous ocular nystagmus biolink:Disease mondo ICD9:379.53|SCTID:45339001|DOID:11771|UMLS:C0271384|ICD10:H55.03 Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) DOID:11771|SNOMEDCT:45339001|UMLS:C0271384 http://purl.obolibrary.org/obo/MONDO_0001361 visual deprivation nystagmus|ocular nystagmus|searching eye movements MONDO:0001360 blind hypotensive eye biolink:Disease mondo COHD:378742|DOID:11766|ICD9:360.41|UMLS:C0154788|SCTID:23360000 DOID:11766|UMLS:C0154788|SNOMEDCT:23360000 http://purl.obolibrary.org/obo/MONDO_0001360 MONDO:0013356 vesicoureteral reflux 3 biolink:Disease mondo UMLS:C3150927|OMIM:613674 Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene. UMLS:C3150927|http://identifiers.org/omim/613674 http://purl.obolibrary.org/obo/MONDO_0013356 SOX17 vesicoureteral reflux (disease)|vesicoureteral reflux 3; VUR3|vesicoureteral reflux type 3|vesicoureteral reflux (disease) caused by mutation in SOX17|VUR3|vesicoureteral reflux 3 MONDO:0040964 obsolete superimposed infection biolink:Disease mondo UMLS:C0038826|SCTID:193198003 SNOMEDCT:193198003|UMLS:C0038826 http://purl.obolibrary.org/obo/MONDO_0040964 superimposed infection|superadded infection|suprainfection MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb biolink:Disease mondo GARD:0005408|ICD10:Q85.0|OMIM:613675|Orphanet:97685|DOID:0060403 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. ORPHA:97685|DOID:0060403|http://identifiers.org/omim/613675 http://purl.obolibrary.org/obo/MONDO_0013357 chromosome 17q11.2 deletion syndrome, 1.4-MB|chromosome 17q11.2 deletion syndrome|17q11 microdeletion syndrome|neurofibromatosis 1 microdeletion syndrome|Van Asperen syndrome|Del(17)(q11)|NF1 microduplication syndrome|NF1 microdeletion syndrome|monosomy 17q11|neurofibromatosis type 1 microdeletion syndrome ordo_clinical_subtype ECTO:9000049 carbon dioxide exposure biolink:OntologyClass mondo An exposure to carbon dioxide. http://purl.obolibrary.org/obo/ECTO_9000049 exposure to carbon dioxide MONDO:0013354 spastic ataxia 4 biolink:Disease mondo ICD10:G11.4|UMLS:C3150925|Orphanet:254343|GARD:0010992|UMLS:CN230090|OMIM:613672|DOID:0050943 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene. ORPHA:254343|DOID:0050943|UMLS:C3150925|UMLS:CN230090|http://identifiers.org/omim/613672 http://purl.obolibrary.org/obo/MONDO_0013354 autosomal recessive spastic ataxia 4|spastic ataxia 4, autosomal recessive|autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome|autosomal recessive spastic ataxia type 4|MTPAP autosomal recessive spastic ataxia|spastic ataxia type 4|autosomal recessive spastic ataxia - optic atrophy - dysarthria|autosomal recessive spastic ataxia caused by mutation in MTPAP|spastic ataxia 4, autosomal recessive; SPAX4|SPAX4 ordo_disease MONDO:0013355 congenital dyserythropoietic anemia type 4 biolink:Disease mondo UMLS:C3150926|ICD10:D64.4|Orphanet:293825|SCTID:719453009|OMIM:613673 Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. UMLS:C3150926|SNOMEDCT:719453009|ORPHA:293825|http://identifiers.org/omim/613673 http://purl.obolibrary.org/obo/MONDO_0013355 congenital dyserythropoietic anemia due to KLF1 mutation|CDA type 4|CDA IV|CDA, type 4|anemia, congenital dyserythropoietic, type IV|congenital dyserythropoietic anemia type 4|anemia, congenital dyserythropoietic, type 4|anemia, congenital dyserythropoietic, type IV; CDAN4|CDAN4|CDA due to KLF1 mutation|CDA type IV ordo_disease MONDO:0013358 Seckel syndrome 4 biolink:Disease mondo OMIM:613676|DOID:0070010|UMLS:C3888212 Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene. DOID:0070010|UMLS:C3888212|http://identifiers.org/omim/613676 http://purl.obolibrary.org/obo/MONDO_0013358 Seckel syndrome 4; SCKL4|CENPJ Seckel syndrome|Seckel syndrome type 4|Seckel syndrome caused by mutation in CENPJ|Seckel syndrome 4|SCKL4 MONDO:0013359 familial hyperaldosteronism type III biolink:Disease mondo UMLS:C3838758|ICD10:E26.0|UMLS:C3150933|SCTID:703234002|Orphanet:251274|OMIM:613677|GARD:0012362 Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia. http://identifiers.org/omim/613677|SNOMEDCT:703234002|UMLS:C3150933|UMLS:C3838758|ORPHA:251274 http://purl.obolibrary.org/obo/MONDO_0013359 FH3|hyperaldosteronism, familial, type 3|HALD3|FH-III|FH 3|FH III|hyperaldosteronism, familial, type III; HALD3|familial hyperaldosteronism type 3|hyperaldosteronism, familial, type III ordo_disease ENVO:01000274 slate biolink:OntologyClass mondo Slate is a metamorphic rock which is fine-grained, foliated, homogeneous, Slates are derived from clastic sedimentary rocks. http://purl.obolibrary.org/obo/ENVO_01000274 ECTO:9000044 ketone exposure biolink:OntologyClass mondo An exposure to ketone. http://purl.obolibrary.org/obo/ECTO_9000044 exposure to ketone ENVO:01000276 ecoregion biolink:OntologyClass mondo A large unit of land or water containing a geographically distinct assemblage of species, natural communities, and environmental conditions. http://purl.obolibrary.org/obo/ENVO_01000276 MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome biolink:Disease mondo UMLS:C3150923|OMIM:613670|ICD10:Q87.2|EFO:1001500|UMLS:CN204965|GARD:0012501|Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene. UMLS:C3150923|UMLS:CN204965|http://identifiers.org/omim/613670|ORPHA:391372 http://purl.obolibrary.org/obo/MONDO_0013352 FOXP1 related global developmental delay, intellectual disability and speech defects|mental retardation with language impairment and with or without autistic features|intellectual disability with language impairment and with or without autistic features gard_rare|ordo_malformation_syndrome MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus biolink:Disease mondo UMLS:C3150924|OMIM:613671 UMLS:C3150924|http://identifiers.org/omim/613671 http://purl.obolibrary.org/obo/MONDO_0013353 intellectual disability, anterior maxillary protrusion, and strabismus; MRAMS|intellectual disability, anterior maxillary protrusion, and strabismus|mental retardation, anterior maxillary protrusion, and strabismus|mental retardation, anterior maxillary protrusion, and strabismus; MRAMS|MRAMS MONDO:0013350 mitochondrial DNA depletion syndrome 4b biolink:Disease mondo UMLS:C3150914|OMIM:613662|DOID:0080123 UMLS:C3150914|http://identifiers.org/omim/613662|DOID:0080123 http://purl.obolibrary.org/obo/MONDO_0013350 mitochondrial DNA depletion syndrome type 4b|mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related|Mngie, Polg-related|mitochondrial DNA depletion syndrome 4B (MNGIE type); MTDPS4B|mitochondrial DNA depletion syndrome 4B (MNGIE type)|MTDPS4B ENVO:01000271 clastic sedimentary rock biolink:OntologyClass mondo Clastic sedimentary rocks are sedimentary rocks that are composed of silicate minerals and rock fragments that were transported by moving fluids. Clastic rocks are composed largely of quartz, feldspar, rock (lithic) fragments, clay minerals, and mica; numerous other minerals may be present as accessories and may be important locally. http://purl.obolibrary.org/obo/ENVO_01000271 MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly biolink:Disease mondo GARD:0010995|OMIM:613668|UMLS:C3150921|ICD10:Q04.3|Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. UMLS:C3150921|ORPHA:402364|http://identifiers.org/omim/613668 http://purl.obolibrary.org/obo/MONDO_0013351 microcephaly, postnatal progressive, with seizures and brain atrophy|postnatal progressive microcephaly, seizures, and brain atrophy ordo_malformation_syndrome MONDO:0001378 urachus cancer biolink:Disease mondo ICD9:188.7|UMLS:C0153615|DOID:11817|SCTID:363456000|ICD10:C67.7 A malignant neoplasm involving the urachus. SNOMEDCT:363456000|DOID:11817|UMLS:C0153615 http://purl.obolibrary.org/obo/MONDO_0001378 malignant neoplasm of urachus|urachus cancer|malignant urachus neoplasm|malignant tumor of urachus|cancer of urachus MONDO:0001377 vitreous syneresis biolink:Disease mondo ICD9:379.21|SCTID:60189009|COHD:320420|UMLS:C0155366|ICD10:H43.81|DOID:11816 UMLS:C0155366|SNOMEDCT:60189009|DOID:11816 http://purl.obolibrary.org/obo/MONDO_0001377 vitreous degeneration MONDO:0001376 urinary bladder anterior wall cancer biolink:Disease mondo UMLS:C0153611|SCTID:188242006|ICD9:188.3|ICD10:C67.3|DOID:11814 DOID:11814|UMLS:C0153611|SNOMEDCT:188242006 http://purl.obolibrary.org/obo/MONDO_0001376 malignant neoplasm of anterior wall of urinary bladder CHEBI:76414 propellant biolink:ChemicalSubstance mondo A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans. http://purl.obolibrary.org/obo/CHEBI_76414 propellants MONDO:0001375 bladder trigone cancer biolink:Disease mondo SCTID:188239000|ICD9:188.0|UMLS:C0496826|ICD10:C67.0|DOID:11813 A malignant neoplasm involving the trigone of urinary bladder. DOID:11813|SNOMEDCT:188239000|UMLS:C0496826 http://purl.obolibrary.org/obo/MONDO_0001375 trigone of urinary bladder cancer|cancer of trigone of urinary bladder|malignant trigone of urinary bladder neoplasm|malignant neoplasm of trigone of urinary bladder ENVO:01000266 water vapour biolink:OntologyClass mondo Water vapour is a vapour which is the gas phase of water. http://purl.obolibrary.org/obo/ENVO_01000266 water vapor|aqueous vapour|aqueous vapor ENVO:01000267 atmosphere biolink:OntologyClass mondo An atmosphere is a layer of gases surrounding a material body of sufficient mass that is held in place by the gravity of the body. http://purl.obolibrary.org/obo/ENVO_01000267 ENVO:01000268 atmospheric water vapour biolink:OntologyClass mondo Atmospheric water vapour is water vapour that is part of an atmosphere. http://purl.obolibrary.org/obo/ENVO_01000268 atmospheric water vapor MONDO:0001379 ureteric orifice cancer biolink:Disease mondo SCTID:188245008|ICD9:188.6|UMLS:C0153614|DOID:11818|ICD10:C67.6 A malignant neoplasm involving the ureteral orifice. SNOMEDCT:188245008|DOID:11818|NCIT:C12337|UMLS:C0153614 http://purl.obolibrary.org/obo/MONDO_0001379 cancer of ureteral orifice|malignant ureteral orifice neoplasm|malignant tumor of ureteric orifice|malignant neoplasm of ureteral orifice|malignant neoplasm of ureteric orifice of urinary bladder|orifice of the ureter|ureteral orifice cancer MONDO:0001370 pericardial effusion (disease) biolink:Disease mondo HP:0001698|NCIT:C3319|SCTID:373945007|DOID:118|UMLS:C0031039 Fluid collection within the pericardial sac, usually due to inflammation. SNOMEDCT:373945007|NCIT:C3319|UMLS:C0031039|DOID:118 http://purl.obolibrary.org/obo/MONDO_0001370 fluid, pericardial|pericardial effusion|pericardial fluid MONDO:0001374 bladder sarcoma biolink:Disease mondo DOID:11812|SCTID:278046008|NCIT:C4669|UMLS:C0349666 A malignant mesenchymal cell neoplasm that affects the urinary bladder. UMLS:C0349666|DOID:11812|NCIT:C4669|SNOMEDCT:278046008 http://purl.obolibrary.org/obo/MONDO_0001374 sarcoma of the bladder|bladder sarcoma|sarcoma of bladder|urinary bladder sarcoma|sarcoma of urinary bladder|sarcoma of the urinary bladder HGNC:24123 B9D1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24123 MONDO:0001373 urinary bladder posterior wall cancer biolink:Disease mondo ICD9:188.4|DOID:11811|UMLS:C0153612|ICD10:C67.4|SCTID:188243001 SNOMEDCT:188243001|DOID:11811|UMLS:C0153612 http://purl.obolibrary.org/obo/MONDO_0001373 malignant neoplasm of posterior wall of urinary bladder MONDO:0001372 bladder neck cancer biolink:Disease mondo DOID:11809|ICD9:188.5|SCTID:188244007|ICD10:C67.5 A malignant neoplasm involving the neck of urinary bladder. SNOMEDCT:188244007|DOID:11809 http://purl.obolibrary.org/obo/MONDO_0001372 malignant neoplasm of urinary bladder neck|malignant neoplasm of neck of urinary bladder|malignant tumor of bladder neck|neck of urinary bladder cancer|cancer of neck of urinary bladder|malignant neck of urinary bladder neoplasm HGNC:26784 C12orf65 biolink:OntologyClass mondo http://identifiers.org/hgnc/26784 MONDO:0001371 protein-energy malnutrition biolink:Disease mondo MESH:D011502|NCIT:C34952|ICD9:263.8|SCTID:238107002|ICD10:E46|ICD9:263.9|DOID:11801|ICD9:269.8 A nutritional deficit that is caused by inadequate protein or calorie intake. MESH:D011502|DOID:11801|SNOMEDCT:238107002|NCIT:C34952 http://purl.obolibrary.org/obo/MONDO_0001371 Protein energy malnutrition MONDO:0013345 d-2-hydroxyglutaric aciduria 2 biolink:Disease mondo OMIM:613657|UMLS:C3150909 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene. http://identifiers.org/omim/613657|UMLS:C3150909 http://purl.obolibrary.org/obo/MONDO_0013345 D-2-hydroxyglutaric aciduria type 2|D-2-hydroxyglutaric aciduria 2; D2HGA2|IDH2 D-2-hydroxyglutaric aciduria|d-2-hydroxyglutaric aciduria 2|D2HGA2|D-2-hydroxyglutaric aciduria caused by mutation in IDH2 MONDO:0013346 obsolete brain calcification, Rajab type biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013346 MONDO:0013343 C1Q deficiency biolink:Disease mondo UMLS:C3150902|OMIM:613652|NCIT:C119990|GARD:0012958 C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor. UMLS:C3150902|NCIT:C119990|http://identifiers.org/omim/613652 http://purl.obolibrary.org/obo/MONDO_0013343 C1Q deficiency|C1QD|C1q deficiency; C1QD gard_rare MONDO:0013344 migraine, with or without aura, susceptibility to, 13 biolink:Disease mondo OMIM:613656 Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene. http://identifiers.org/omim/613656 http://purl.obolibrary.org/obo/MONDO_0013344 KCNK18 migraine disorder|MGR13|migraine with or without aura, susceptibility to, 13; MGR13|migraine, with or without aura, susceptibility to, 13; MGR13|migraine with or without aura, susceptibility to, 13|susceptibility to migraine with or without aura 13|migraine, with or without aura, susceptibility to, type 13|migraine, with or without aura, susceptibility to, 13|migraine disorder caused by mutation in KCNK18 predisposition MONDO:0013349 ALG11-CDG biolink:Disease mondo ICD10:E77.8|OMIM:613661|UMLS:C3150913|SCTID:733085004|Orphanet:280071|GARD:0012396 (13q14.3). http://identifiers.org/omim/613661|UMLS:C3150913|ORPHA:280071|SNOMEDCT:733085004 http://purl.obolibrary.org/obo/MONDO_0013349 congenital disorder of glycosylation type 1p|congenital disorder of glycosylation, type Ip; CDG1P|CDG-Ip|carbohydrate deficient glycoprotein syndrome type Ip|ALG11-CDG (CDG-Ip)|CDG syndrome type Ip|congenital disorder of glycosylation type Ip|CDG1P|congenital disorder of glycosylation, type Ip ordo_disease MONDO:0013347 obsolete gastric cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013347 MONDO:0013348 cone-rod dystrophy 15 biolink:Disease mondo DOID:0111021|OMIM:613660|UMLS:C3150912 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene. http://identifiers.org/omim/613660|DOID:0111021|UMLS:C3150912 http://purl.obolibrary.org/obo/MONDO_0013348 CDHR1 cone-rod dystrophy|cone-rod dystrophy type 15|cone-rod dystrophy 15; CORD15|cone-rod dystrophy caused by mutation in CDHR1|CORD15|retinitis pigmentosa 65|cone-rod dystrophy 15 MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect biolink:Disease mondo DOID:0060741|OMIM:613646|ICD10:E71.1|Orphanet:280183|UMLS:C3150900 Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. UMLS:C3150900|ORPHA:280183|DOID:0060741|http://identifiers.org/omim/613646 http://purl.obolibrary.org/obo/MONDO_0013341 methylmalonic aciduria due to transcobalamin receptor defect|methylmalonic acidemia, TCb1R type|methylmalonic acidemia, TCbIR type|CD320 methylmalonic acidemia|methylmalonic acidemia, Tcblr type|methylmalonic aciduria, transient, due to transcobalamin receptor defect|methylmalonic acidemia caused by mutation in CD320 ordo_biological_anomaly MONDO:0013342 hereditary spastic paraplegia 48 biolink:Disease mondo DOID:0110800|OMIM:613647|SCTID:763367009|UMLS:C3150901|ICD10:G11.4|Orphanet:306511 Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported. UMLS:C3150901|DOID:0110800|SNOMEDCT:763367009|ORPHA:306511|http://identifiers.org/omim/613647 http://purl.obolibrary.org/obo/MONDO_0013342 autosomal recessive spastic paraplegia type 48|spastic paraplegia 48, autosomal recessive; SPG48|spastic paraplegia 48, autosomal recessive|SPG48|hereditary spastic paraplegia type 48|autosomal recessive spastic paraplegia 48|AP5Z1 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in AP5Z1 ordo_disease CHEBI:76413 greenhouse gas biolink:ChemicalSubstance mondo A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'. http://purl.obolibrary.org/obo/CHEBI_76413 greenhouse gases MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to biolink:Disease mondo OMIM:613643|UMLS:C3150899 Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene. UMLS:C3150899|http://identifiers.org/omim/613643 http://purl.obolibrary.org/obo/MONDO_0013340 susceptibility to autosomal dominant Parkinson disease 5|Parkinson disease 5, autosomal dominant, susceptibility to; PARK5|UCHL1 young-onset Parkinson disease|Parkinson disease 5, autosomal dominant, susceptibility to|young-onset Parkinson disease caused by mutation in UCHL1|PARK5 predisposition MONDO:0001345 antidepressant type abuse biolink:Disease mondo DOID:11718|ICD9:305.8 A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. DOID:11718 http://purl.obolibrary.org/obo/MONDO_0001345 MONDO:0001344 obsolete neonatal diabetes mellitus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001344 MONDO:0001343 impaired renal function disease biolink:Disease mondo DOID:11705|ICD9:588.89|ICD9:588.8|SCTID:197663003|ICD10:N25|ICD9:588.9 Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction. SNOMEDCT:197663003|DOID:11705 http://purl.obolibrary.org/obo/MONDO_0001343 disease of kidney|kidney disease MONDO:0001342 dysgammaglobulinemia (disease) biolink:Disease mondo DOID:11702|SCTID:123782009|MESH:D004406|HP:0002961|UMLS:C0013374 An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. SNOMEDCT:123782009|UMLS:C0013374|DOID:11702|MESH:D004406 http://purl.obolibrary.org/obo/MONDO_0001342 dysgammaglobulinemia (finding)|dysgammaglobulinemia MONDO:0001349 odontoclasia biolink:Disease mondo SCTID:196305005|DOID:11736|UMLS:C0341004|ICD10:K02.4|ICD9:521.05 SNOMEDCT:196305005|UMLS:C0341004|DOID:11736 http://purl.obolibrary.org/obo/MONDO_0001349 MONDO:0001348 obsolete Lyme disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001348 MONDO:0001347 facioscapulohumeral muscular dystrophy biolink:Disease mondo SCTID:399091004|MESH:D020391|MedDRA:10064087|DOID:11727|Orphanet:269|ICD10:G71.0|NCIT:C84704 An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. UMLS:C0238288|MEDDRA:10064087|ORPHA:269|SNOMEDCT:399091004|DOID:11727|NCIT:C84704|MESH:D020391 http://purl.obolibrary.org/obo/MONDO_0001347 facioscapulohumeral dystrophy|muscular dystrophy, Landouzy-Dejerine|FSHD|facioscapulohumeral myopathy|facioscapulohumeral muscular dystrophy|Landouzy-Dejerine muscular dystrophy|Landouzy Dejerine muscular dystrophy|Landouzy-Dejerine myopathy|FSH dystrophy ordo_disease MONDO:0001346 obsolete distal muscular dystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001346 MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication biolink:Disease mondo UMLS:C3150880|ICD10:Q66.8|Orphanet:238578|OMIM:613618 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. http://identifiers.org/omim/613618|ORPHA:238578|UMLS:C3150880 http://purl.obolibrary.org/obo/MONDO_0013329 hereditary clubfoot due to 17q23.1-q23.2 microduplication|chromosome 17q23.1-q23.2 DUPLICATION syndrome ordo_etiological_subtype MONDO:0001341 selective IgA deficiency disease biolink:Disease mondo DC:0000223|MESH:D017098|DOID:0060025|EFO:1001929|DOID:11701|SCTID:29260007|UMLS:C4049006|UMLS:C0162538|NCIT:C26964 A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders. SNOMEDCT:29260007|UMLS:C0162538|DOID:0060025|UMLS:C4049006|MESH:D017098|DOID:11701|NCIT:C26964 http://purl.obolibrary.org/obo/MONDO_0001341 IgA deficiency|deficiency, IgA|immunoglobulin alpha deficiency|IgA deficiencies|selective immunoglobulin A deficiency|gamma-A-globulin deficiency|selective IgA immunodeficiency|immunoglobulin A deficiency|deficiencies, IgA MONDO:0001340 heart cancer biolink:Disease mondo DOID:117|NCIT:C3548|ICD10:C38.0|MESH:D006338|ICD9:164.1 A malignant neoplasm involving the heart DOID:117|MESH:D006338|NCIT:C3548 http://purl.obolibrary.org/obo/MONDO_0001340 malignant tumor of the heart|malignant tumor of heart|Cardiac neoplasm, malignant|tumour of heart|malignant Cardiac neoplasm|Cardiac tumor|malignant neoplasm of the heart|malignant Cardiac tumor|malignant heart neoplasm|malignant heart tumor|cancer of heart|malignant neoplasm of heart|heart cancer MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome biolink:Disease mondo SCTID:722437006|ICD10:Q15.8|GARD:0003999|Orphanet:1884|MESH:C536124 Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. MESH:C536124|ORPHA:1884|SNOMEDCT:722437006 http://purl.obolibrary.org/obo/MONDO_0015997 noble-Bass-Sherman syndrome|ectopia lentis chorioretinal dystrophy myopia|noble Bass Sherman syndrome ordo_disease MONDO:0013334 cocoon syndrome biolink:Disease mondo Orphanet:465824|UMLS:C3150891|OMIM:613630|DOID:0060647 Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. http://identifiers.org/omim/613630|ORPHA:465824|UMLS:C3150891|DOID:0060647 http://purl.obolibrary.org/obo/MONDO_0013334 fetal encasement syndrome|cocoon syndrome ordo_malformation_syndrome MONDO:0013335 tuberculin skin test reactivity, absence of biolink:Disease mondo OMIM:613636 http://identifiers.org/omim/613636 http://purl.obolibrary.org/obo/MONDO_0013335 tuberculin skin test reactivity, absence of|Tst1|tst reactivity, absence of MONDO:0015996 obsolete systemic capillary leak syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015996 MONDO:0015995 melorheostosis with osteopoikilosis biolink:Disease mondo UMLS:CN200621|GARD:0003800|ICD10:M85.8|UMLS:C2931505|GARD:0003690|Orphanet:1879 Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. UMLS:CN200621|ORPHA:1879|UMLS:C2931505 http://purl.obolibrary.org/obo/MONDO_0015995 dystrophy osseous sclerosing mixed|MSBD syndrome|mixed sclerosing bone dystrophy gard_rare|ordo_malformation_syndrome MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation biolink:Disease mondo SCTID:719162001|UMLS:C3150890|OMIM:613627 http://identifiers.org/omim/613627|UMLS:C3150890|SNOMEDCT:719162001 http://purl.obolibrary.org/obo/MONDO_0013332 Tsukahara syndrome|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability MONDO:0015994 muscular dystrophy-white matter spongiosis syndrome biolink:Disease mondo ICD10:G71.2|GARD:0003854|UMLS:CN200619|Orphanet:1877 ORPHA:1877|UMLS:CN200619 http://purl.obolibrary.org/obo/MONDO_0015994 muscular dystrophy white matter spongiosis|Atrophie blanche ordo_disease|gard_rare MONDO:0013333 odontoid hypoplasia biolink:Disease mondo NCIT:C86969|OMIM:613628 An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations. http://identifiers.org/omim/613628|NCIT:C86969 http://purl.obolibrary.org/obo/MONDO_0013333 odontoid hypoplasia MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate b biolink:Disease mondo GARD:0012454|ICD10:G60.0|Orphanet:254334|OMIM:613641|DOID:0110204|UMLS:C3150897 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. http://identifiers.org/omim/613641|ORPHA:254334|DOID:0110204|UMLS:C3150897 http://purl.obolibrary.org/obo/MONDO_0013338 Charcot-Marie-Tooth disease, recessive intermediate B|Charcot-Marie-Tooth neuropathy, recessive Intermediate B|RI-CMT type B|CMTRIB|Charcot-Marie-Tooth disease, recessive intermediate B; CMTRIB|Charcot-Marie-Tooth disease recessive intermediate type B|Charcot-Marie-Tooth disease, recessive Intermediate type B|RI-CMTB|autosomal recessive intermediate Charcot-Marie-Tooth disease type B|Charcot-Marie-Tooth disease caused by mutation in KARS|Charcot-Marie-Tooth neuropathy recessive intermediate B|KARS Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, recessive intermediate, B ordo_disease MONDO:0013339 dilated cardiomyopathy 1GG biolink:Disease mondo OMIM:613642|DOID:0110435|ICD10:I42.0|UMLS:C3150898 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene. http://identifiers.org/omim/613642|UMLS:C3150898|DOID:0110435 http://purl.obolibrary.org/obo/MONDO_0013339 cardiomyopathy, dilated, type 1Gg|SDHA familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1GG; CMD1GG|cardiomyopathy, dilated, 1GG|familial isolated dilated cardiomyopathy caused by mutation in SDHA|CMD1GG|dilated cardiomyopathy type 1GG MONDO:0015999 primary pigmented nodular adrenocortical disease biolink:Disease mondo UMLS:CN200645|DC:0000357|NCIT:C131196|OMIMPS:610489|Orphanet:189439|ICD10:E24.8|GARD:0010906|SCTID:719274008|UMLS:C4304832|DOID:0060280 Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter). ORPHA:189439|SNOMEDCT:719274008|UMLS:CN200645|UMLS:C4304832|NCIT:C131196|DOID:0060280 http://purl.obolibrary.org/obo/MONDO_0015999 pigmented nodular adrenocortical disease, primary|primary pigmented nodular adrenal dysplasia|pigmented nodular adrenocortical disease|PPNAD gard_rare|ordo_disease MONDO:0013336 chromosome 19p13.13 deletion syndrome biolink:Disease mondo DOID:0060426|OMIM:613638|UMLS:C3150894|UMLS:CN204595|ICD10:Q93.5|SCTID:764440006|Orphanet:357001 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). http://identifiers.org/omim/613638|ORPHA:357001|UMLS:C3150894|DOID:0060426|SNOMEDCT:764440006|UMLS:CN204595 http://purl.obolibrary.org/obo/MONDO_0013336 monosomy 19p13.13|Del(19)(p13.13)|chromosome 19p13.13 deletion syndrome|chromosome 19P13.13 Duplication syndrome|19p13.13 microdeletion syndrome ordo_malformation_syndrome MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C biolink:Disease mondo OMIM:613640|DOID:0070157|UMLS:C3150896 A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. http://identifiers.org/omim/613640|UMLS:C3150896|DOID:0070157 http://purl.obolibrary.org/obo/MONDO_0013337 HSAN 1C|neuropathy, hereditary sensory and autonomic, type IC; HSAN1C|hereditary sensory and autonomic neuropathy type 1C|neuropathy, hereditary sensory and autonomic, type IC|hereditary sensory and autonomic neuropathy type IC|HSAN1C|HSN 1C|neuropathy, hereditary sensory, type 1C MONDO:0015998 isolated ectopia lentis biolink:Disease mondo DC:0000511|MedDRA:10014145|Orphanet:1885|ICD10:Q12.1|PMID:20141359|DOID:0111148|MESH:C536184|GARD:0012251|SCTID:74969002|NCIT:C34566 Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. UMLS:C0013581|MESH:C536184|NCIT:C34566|DOID:0111148|ORPHA:1885|MEDDRA:10014145|SNOMEDCT:74969002|MESH:D004479 http://purl.obolibrary.org/obo/MONDO_0015998 ectopia lentis syndrome|nonsyndromic lens position anomaly|familial ectopia lentis|congenital ectopic lens|IEL|isolated lens position anomaly ordo_malformation_syndrome|gard_rare ENVO:01000295 marine layer biolink:OntologyClass mondo A layer that is part of a marine water body. http://purl.obolibrary.org/obo/ENVO_01000295 MONDO:0001339 portal vein thrombosis biolink:Disease mondo ICD10:I81|DOID:11695|COHD:199837|UMLS:C0155773|NCIT:C78565|ICD9:452|SCTID:17920008 The formation of a blood clot (thrombus) in the portal vein. DOID:11695|NCIT:C78565|SNOMEDCT:17920008|UMLS:C0155773 http://purl.obolibrary.org/obo/MONDO_0001339 thrombotic disease of portal vein|portal vein thrombotic disease ECTO:9000021 alkali metal salt exposure biolink:OntologyClass mondo An exposure to alkali metal salt. http://purl.obolibrary.org/obo/ECTO_9000021 exposure to alkali metal salt MONDO:0015993 cone-rod dystrophy biolink:Disease mondo OMIMPS:120970|Orphanet:1872|GARD:0010790|DOID:0050572|ICD10:H35.5 Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. ORPHA:1872|DOID:0050572 http://purl.obolibrary.org/obo/MONDO_0015993 cone rod dystrophy|cone-rod retinal dystrophy ordo_disease MONDO:0013330 agenesis of the corpus callosum and congenital lymphedema biolink:Disease mondo OMIM:613623|UMLS:C3150887 UMLS:C3150887|http://identifiers.org/omim/613623 http://purl.obolibrary.org/obo/MONDO_0013330 agenesis of the corpus callosum and congenital lymphedema MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 biolink:Disease mondo OMIM:613625|UMLS:C3150889 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene. http://identifiers.org/omim/613625|UMLS:C3150889 http://purl.obolibrary.org/obo/MONDO_0013331 combined deficiency of factor V and factor VIII caused by mutation in MCFD2|factor 5 and Factor VIII, combined deficiency of, type 2|factor V and factor VIII, combined deficiency of, 2; F5F8D2|F5F8D2|MCFD2 combined deficiency of factor V and factor VIII|factor V and factor VIII, combined deficiency of, 2 MONDO:0015992 obsolete progressive cone dystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015992 MONDO:0015991 citrullinemia biolink:Disease mondo MESH:D020159|Orphanet:187|ICD10:E72.2|NCIT:C84639|UMLS:C0175683|SCTID:124711003|ICD10:E72.23|DOID:9273 Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency). UMLS:C0175683|ORPHA:187|DOID:9273|MESH:D020159|NCIT:C84639|SNOMEDCT:124711003 http://purl.obolibrary.org/obo/MONDO_0015991 deficiency of citrulline-aspartate ligase|ass deficiency ordo_group_of_disorders ENVO:01000293 ice mass biolink:OntologyClass mondo A mass of water ice. http://purl.obolibrary.org/obo/ENVO_01000293 accumulation of ice|ice accumulation ECTO:9000026 alcohol exposure biolink:OntologyClass mondo An exposure to alcohol. http://purl.obolibrary.org/obo/ECTO_9000026 exposure to alcohol MONDO:0015990 focal, segmental or multifocal dystonia biolink:Disease mondo ICD10:G24.8|ICD10:G24.5|ICD10:G24.4|ICD10:G24.3|Orphanet:1866 A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. ORPHA:1866 http://purl.obolibrary.org/obo/MONDO_0015990 ordo_group_of_disorders MONDO:0001356 iron deficiency anemia biolink:Disease mondo UMLS:C0162316|SCTID:87522002|DOID:11758|MESH:D018798|COHD:436659|ICD9:280.9|ICD9:280.8|NCIT:C84484 Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. UMLS:C0162316|SNOMEDCT:87522002|MESH:D018798|DOID:11758|NCIT:C84484 http://purl.obolibrary.org/obo/MONDO_0001356 iron-deficiency anemia MONDO:0001355 ocular siderosis biolink:Disease mondo ICD9:360.23|DOID:11754|UMLS:C0271001|SCTID:25277000|ICD10:H44.32 A hemosiderosis that involves the camera-type eye. SNOMEDCT:25277000|DOID:11754|UMLS:C0271001 http://purl.obolibrary.org/obo/MONDO_0001355 camera-type eye hemosiderosis|hemosiderosis of camera-type eye|siderosis of eye|siderosis bulbi|siderosis of globe UBERON:0010190 pair of dorsal aortae biolink:AnatomicalEntity mondo the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation http://purl.obolibrary.org/obo/UBERON_0010190 paired dorsal aortae MONDO:0025303 anaplasmosis biolink:Disease mondo SCTID:13906002 An disease or disorder caused by infection with Anaplasma. SNOMEDCT:13906002 http://purl.obolibrary.org/obo/MONDO_0025303 Anaplasma infectious disease|Anaplasma disease or disorder|Anaplasma caused disease or disorder MONDO:0001354 obsolete acute endophthalmitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001354 MONDO:0001353 Bordetella parapertussis infectious disease biolink:Disease mondo SCTID:77116006|ICD10:A37.1|DOID:11750|ICD9:033.1|UMLS:C0275742 Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough. UMLS:C0275742|SNOMEDCT:77116006|DOID:11750 http://purl.obolibrary.org/obo/MONDO_0001353 Bordetella parapertussis caused disease or disorder|Bordetella parapertussis infection|infection caused by Bordetella parapertussis|infection due to Bordetella parapertussis|Bordetella parapertussis disease or disorder|Bordetella parapertussis whooping cough MONDO:0001359 obsolete Kohler disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001359 MONDO:0001358 bronchial disease biolink:Disease mondo EFO:1002018|DOID:1176|SCTID:41427001|UMLS:C0006261|NCIT:C34439|ICD9:519.19|COHD:256717|MESH:D001982 A disease involving the bronchus. NCIT:C34439|MESH:D001982|UMLS:C0006261|DOID:1176|SNOMEDCT:41427001 http://purl.obolibrary.org/obo/MONDO_0001358 disease of bronchus|disease or disorder of bronchus|disorder of bronchus|bronchus disease|bronchospasm|bronchial disorder|bronchus disease or disorder|disorder of bronchus UBERON:0010191 aortic system biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010191 MONDO:0001357 hypochromic anemia (disease) biolink:Disease mondo UMLS:C0002884|NCIT:C34380|DOID:11759|HP:0001931|SCTID:44452003|ICD10:D50 Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. UMLS:C0002884|NCIT:C34380|SNOMEDCT:44452003|DOID:11759 http://purl.obolibrary.org/obo/MONDO_0001357 anemia hypochromic|hypochromic anemia UBERON:0010192 genital artery biolink:AnatomicalEntity mondo One of the laterally paired arteries that supply the gonads. http://purl.obolibrary.org/obo/UBERON_0010192 gonadal artery MONDO:0013318 early repolarization associated with ventricular fibrillation biolink:Disease mondo UMLS:C3150852|OMIM:613601 http://identifiers.org/omim/613601|UMLS:C3150852 http://purl.obolibrary.org/obo/MONDO_0013318 early repolarization associated with ventricular fibrillation|early repolarization syndrome MONDO:0013319 chromosome 4Q32.1-q32.2 triplication syndrome biolink:Disease mondo UMLS:C3150857|OMIM:613603 http://identifiers.org/omim/613603|UMLS:C3150857 http://purl.obolibrary.org/obo/MONDO_0013319 chromosome 4Q32.1-q32.2 triplication syndrome MONDO:0001352 round ligament malignant neoplasm biolink:Disease mondo SCTID:188204000|DOID:11748|UMLS:C0346867|ICD9:183.5|ICD10:C57.2 A malignant neoplasm involving the round ligament of uterus. SNOMEDCT:188204000|DOID:11748|UMLS:C0346867 http://purl.obolibrary.org/obo/MONDO_0001352 cancer of round ligament of uterus|round ligament of uterus cancer|malignant neoplasm of round ligament of uterus|malignant round ligament of uterus neoplasm|malignant neoplasm of round ligament MONDO:0001351 uterine adnexa cancer biolink:Disease mondo DOID:11747|ICD9:183|ICD9:183.9|ICD10:C57.4 DOID:11747 http://purl.obolibrary.org/obo/MONDO_0001351 UBERON:0010199 bona-fide anatomical boundary biolink:AnatomicalEntity mondo An anatomical boundary that corresponds to some physical discontinuity. http://purl.obolibrary.org/obo/UBERON_0010199 MONDO:0001350 parametrium malignant neoplasm biolink:Disease mondo SCTID:448674007|DOID:11746|COHD:40491000|ICD9:183.4|ICD10:C57.3|UMLS:C0153581 A malignant neoplasm involving the parametrium. DOID:11746|SNOMEDCT:448674007|UMLS:C0153581 http://purl.obolibrary.org/obo/MONDO_0001350 cancer of parametrium|parametrium cancer|malignant parametrium neoplasm|malignant neoplasm of parametrium WIKIDATA:Q525 Sol biolink:OntologyClass mondo https://www.wikidata.org/wiki/Q525 Sun MONDO:0013323 cranioectodermal dysplasia 2 biolink:Disease mondo UMLS:C3150874|OMIM:613610 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. http://identifiers.org/omim/613610|UMLS:C3150874 http://purl.obolibrary.org/obo/MONDO_0013323 cranioectodermal dysplasia caused by mutation in WDR35|CRANIOECTODERMAL dysplasia 2; CED2|cranioectodermal dysplasia 2|WDR35 cranioectodermal dysplasia|Cranioectodermal dysplasia type 2|CED2 MONDO:0015986 bilateral renal agenesis biolink:Disease mondo DOID:0080200|Orphanet:1848|NCIT:C101219|ICD10:Q60.1 Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. DOID:0080200|ORPHA:1848|MESH:C536482|NCIT:C101219 http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal aplasia|renal agenesis, bilateral ordo_clinical_subtype MONDO:0015985 bone dysplasia, Azouz type biolink:Disease mondo Orphanet:1844|UMLS:C4303993|GARD:0000920|SCTID:720566004|ICD10:Q78.4 Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet. ORPHA:1844|UMLS:C4303993|SNOMEDCT:720566004 http://purl.obolibrary.org/obo/MONDO_0015985 bone dysplasia Azouz type gard_rare|ordo_malformation_syndrome MONDO:0013324 lymphedema-posterior choanal atresia syndrome biolink:Disease mondo Orphanet:99141|UMLS:C3150875|OMIM:613611|ICD10:Q82.0 ORPHA:99141|http://identifiers.org/omim/613611|UMLS:C3150875 http://purl.obolibrary.org/obo/MONDO_0013324 choanal atresia and lymphedema; CATLPH|choanal atresia and lymphedema|CATLPH ordo_malformation_syndrome CHEBI:64459 biaryl biolink:ChemicalSubstance mondo An organic aromatic compound whose structure contains two aromatic rings or ring systems, joined to each other by a single bond. http://purl.obolibrary.org/obo/CHEBI_64459 biaryls MONDO:0015984 obsolete rare genetic immune disease biolink:Disease mondo Orphanet:183770|UMLS:CN200582 Rare genetic immune system disease. ORPHA:183770|UMLS:CN200582 http://purl.obolibrary.org/obo/MONDO_0015984 rare genetic immune system disease ordo_group_of_disorders|obsoletion_candidate MONDO:0013321 FWS biolink:Disease mondo UMLS:C3150859|OMIM:613606 http://identifiers.org/omim/613606|UMLS:C3150859 http://purl.obolibrary.org/obo/MONDO_0013321 FWS|microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia|FORSYTHE-WAKELING syndrome; FWS|FORSYTHE-WAKELING syndrome MONDO:0015983 obsolete rare genetic syndromic intellectual disability biolink:Disease mondo UMLS:CN226822|Orphanet:183763 Rare genetic syndromic intellectual disability. ORPHA:183763|UMLS:CN226822 http://purl.obolibrary.org/obo/MONDO_0015983 rare genetic syndromic intellectual disability ordo_group_of_disorders|obsoletion_candidate MONDO:0013322 FAME3 biolink:Disease mondo MESH:C567098|UMLS:C3150860|OMIM:613608 MESH:C567098|http://identifiers.org/omim/613608|UMLS:C3150860 http://purl.obolibrary.org/obo/MONDO_0013322 FAME3|cortical myoclonic tremor with epilepsy, familial, 3|epilepsy, familial ADULT myoclonic, 3; FAME3|epilepsy, familial ADULT myoclonic, 3 MONDO:0013327 primary hyperoxaluria type 3 biolink:Disease mondo Orphanet:93600|NCIT:C123214|UMLS:C3150878|SCTID:734990008|ICD10:E74.8|GARD:0010738|OMIM:613616 Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. ORPHA:93600|NCIT:C123214|http://identifiers.org/omim/613616|SNOMEDCT:734990008|UMLS:C3150878 http://purl.obolibrary.org/obo/MONDO_0013327 HP3|HOGA1 primary hyperoxaluria|primary hyperoxaluria type III|PH III|primary hyperoxaluria caused by mutation in HOGA1|hyperoxaluria, primary, type III|hyperoxaluria, primary, type 3|hyperoxaluria, primary, type III; HP3 gard_rare|ordo_clinical_subtype MONDO:0015989 congenital valvular dysplasia biolink:Disease mondo Orphanet:1864|SCTID:718128009|ICD10:Q24.8 1/100,000) usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. When it is associated with either stenosis or regurgitation of the affected valve(s), the symptoms depend on the degree of obstruction or on the volume of regurgitation. SNOMEDCT:718128009|ORPHA:1864 http://purl.obolibrary.org/obo/MONDO_0015989 ordo_morphological_anomaly MONDO:0013328 retinitis pigmentosa 58 biolink:Disease mondo DOID:0110362|UMLS:C3150879|OMIM:613617|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene. http://identifiers.org/omim/613617|UMLS:C3150879|DOID:0110362 http://purl.obolibrary.org/obo/MONDO_0013328 retinitis pigmentosa caused by mutation in ZNF513|RP58|retinitis pigmentosa 58; RP58|retinitis pigmentosa 58|ZNF513 retinitis pigmentosa|retinitis pigmentosa type 58 MONDO:0013325 COG5-CDG biolink:Disease mondo OMIM:613612|UMLS:C3150876|ICD10:E77.8|GARD:0012348|SCTID:721100009|DOID:0070261|Orphanet:263487|GARD:0001173 COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. DOID:0070261|SNOMEDCT:721100009|http://identifiers.org/omim/613612|UMLS:C3150876|ORPHA:263487 http://purl.obolibrary.org/obo/MONDO_0013325 CDG III|congenital disorder of glycosylation type III|CDG syndrome type III|congenital disorder of glycosylation, type III|congenital disorder of glycosylation type 2i|CDG syndrome type 3|congenital disorder of glycosylation, type III; CDG2I|carbohydrate deficient glycoprotein syndrome type III|CDG-III|CDG2I|COG5-CDG (CDG-III) gard_rare|ordo_disease MONDO:0015988 multicystic dysplastic kidney biolink:Disease mondo SCTID:204962002|Orphanet:1851|NCIT:C123031|ICD10:Q61.4|UMLS:C3714581|MESH:D021782|ICD9:753.19 Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. UMLS:C0345335|UMLS:C3714581|ORPHA:1851|SNOMEDCT:204962002|NCIT:C123031|MESH:D021782 http://purl.obolibrary.org/obo/MONDO_0015988 multicystic renal dysplasia|MCDK ordo_morphological_anomaly MONDO:0040998 Pasteurella multocida infectious disease biolink:Disease mondo GARD:0009774|SCTID:197718007|UMLS:C1260911 UMLS:C1260911|SNOMEDCT:197718007 http://purl.obolibrary.org/obo/MONDO_0040998 infection caused by Pasteurella multocida|infection by Pasteurella multocida MONDO:0015987 scimitar syndrome biolink:Disease mondo NCIT:C85056|Orphanet:185|ICD9:747.49|SCTID:39905002|ICD10:Q26.8|MedDRA:10051951|UMLS:C0036400|MESH:D012587 Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. ORPHA:185|MESH:D012587|UMLS:C0036400|MEDDRA:10051951|NCIT:C85056|SNOMEDCT:39905002 http://purl.obolibrary.org/obo/MONDO_0015987 Epibronchial right pulmonary vein syndrome|Halasz syndrome|congenital pulmonary venolobar syndrome|hypogenetic lung syndrome ordo_malformation_syndrome MONDO:0013326 Senior-Loken syndrome 7 biolink:Disease mondo OMIM:613615|UMLS:C3150877 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://identifiers.org/omim/613615|UMLS:C3150877 http://purl.obolibrary.org/obo/MONDO_0013326 Senior-Loken syndrome caused by mutation in SDCCAG8|Senior-Loken syndrome 7|Senior-Loken syndrome type 7|SLSN7|SENIOR-Loken syndrome 7; SLSN7|SDCCAG8 Senior-Loken syndrome ENVO:01000280 ecozone biolink:OntologyClass mondo Ecozones delineate large areas of a planetary surface within which organisms have been evolving in relative isolation over long periods of time, separated from one another by geographic features, such as oceans, broad deserts, or high mountain ranges, that constitute barriers to migration. http://purl.obolibrary.org/obo/ENVO_01000280 MONDO:0015982 obsolete rare genetic intellectual disability biolink:Disease mondo Orphanet:183757|UMLS:CN226821 Rare genetic intellectual disability. UMLS:CN226821|ORPHA:183757 http://purl.obolibrary.org/obo/MONDO_0015982 rare genetic intellectual disability ordo_group_of_disorders|obsoletion_candidate MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome biolink:Disease mondo ICD10:Q93.5|SCTID:719576009|UMLS:C4304597|DOID:0060400|OMIM:613604|Orphanet:261211|UMLS:C3150858 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. http://identifiers.org/omim/613604|SNOMEDCT:719576009|UMLS:C4304597|UMLS:C3150858|DOID:0060400|ORPHA:261211 http://purl.obolibrary.org/obo/MONDO_0013320 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB|Del(16)(p11.2p12.2)|16p11.2-p12.2 microdeletion syndrome|monosomy 16p11.2-p12.2|16p11.2p12.2 microdeletion syndrome|monosomy 16p11.2p12.2 ordo_malformation_syndrome MONDO:0015981 obsolete inherited gynecological tumor biolink:Disease mondo UMLS:CN200581|Orphanet:183734 UMLS:CN200581|ORPHA:183734 http://purl.obolibrary.org/obo/MONDO_0015981 rare genetic female reproductive system tumor|genetic gynecological tumor ordo_group_of_disorders ENVO:01000281 layer biolink:OntologyClass mondo A layer is a quantity of some material which is spatially continuous, has comparable thickness, and usually covers some surface. http://purl.obolibrary.org/obo/ENVO_01000281 MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases biolink:Disease mondo Orphanet:183731|UMLS:CN200580 UMLS:CN200580|ORPHA:183731 http://purl.obolibrary.org/obo/MONDO_0015980 rare genetic female reproductive system disease ordo_group_of_disorders|obsoletion_candidate ENVO:01000283 lake layer biolink:OntologyClass mondo A layer which is part of a lake. http://purl.obolibrary.org/obo/ENVO_01000283 MONDO:0025377 African swine fever biolink:Disease mondo MESH:D000357|UMLS:C0001752 A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros). UMLS:C0001752|MESH:D000357 http://purl.obolibrary.org/obo/MONDO_0025377 wart-Hog diseases|wart Hog disease|swine fever, African|wart-Hog disease NCBITaxon:11027 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11027 NCBITaxon:11029 Ross River virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11029 RRV MONDO:0025370 urogenital neoplasm biolink:Disease mondo MESH:D014565|EFO:0003863 Tumors or cancer of the urogenital system in either the male or the female. MESH:D014565 http://purl.obolibrary.org/obo/MONDO_0025370 tumor of genitourinary system|neoplasms, genitourinary|neoplasm, urogenital|genitourinary neoplasms|neoplasms, genito-urinary|neoplasm of genitourinary system|genito-urinary neoplasm|genitourinary system tumor|genito-urinary neoplasms|urogenital neoplasm|neoplasm, genito-urinary|neoplasm, genitourinary|genitourinary neoplasm|genitourinary system neoplasm|neoplasms, urogenital MONDO:0025371 Parvoviridae infectious disease biolink:Disease mondo MESH:D010322|ICD9:078.89|SCTID:83223005 Virus infections caused by the parvoviridae. SNOMEDCT:83223005|MESH:D010322 http://purl.obolibrary.org/obo/MONDO_0025371 infections, Parvovirus|disease due to Parvoviridae|Parvoviridae infection|Parvovirus infection|disease caused by Parvoviridae|Parvoviridae caused disease or disorder|Parvovirus infections|Parvoviridae disease or disorder|infection, Parvoviridae|infection, Parvovirus|infections, Parvoviridae NCBITaxon:374468 Nakaseomyces organism taxon mondo PMID:14654427|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_374468 MONDO:0025376 African horse sickness biolink:Disease mondo MESH:D000355|UMLS:C0001748 An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck. MESH:D000355|UMLS:C0001748 http://purl.obolibrary.org/obo/MONDO_0025376 horse sickness, African|sickness, African horse|equine Plagues|African Horsesickness|African Horsesicknesses|African horse Sicknesses|Horsesicknesses, African|Horsesickness, African|plague, equine|Plagues, equine|equine plague|horse Sicknesses, African|Sicknesses, African horse MONDO:0013398 acne inversa, familial, 3 biolink:Disease mondo OMIM:613737|UMLS:C3151038 Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene. http://identifiers.org/omim/613737|UMLS:C3151038 http://purl.obolibrary.org/obo/MONDO_0013398 ACNINV3|acne inversa, familial, 3|PSEN1 familial acne inversa|acne inversa, familial, 3; ACNINV3|acne inversa, familial, type 3|familial acne inversa caused by mutation in PSEN1 MONDO:0013399 obsolete cardiomyopathy, dilated, 1T biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013399 MONDO:0040923 late latent syphilis biolink:Disease mondo UMLS:C1260915|NCIT:C128371|SCTID:186903006 Latent syphilis when infection was acquired more than twelve months previously. UMLS:C1260915|SNOMEDCT:186903006|NCIT:C128371 http://purl.obolibrary.org/obo/MONDO_0040923 late latent syphilis MONDO:0040922 latent early syphilis biolink:Disease mondo SCTID:186867005|UMLS:C0275842 SNOMEDCT:186867005|UMLS:C0275842 http://purl.obolibrary.org/obo/MONDO_0040922 latent early syphilis MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 biolink:Disease mondo Orphanet:284289|OMIM:613728|DOID:0050999|UMLS:C3150998|ICD10:G11.2 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene. http://identifiers.org/omim/613728|ORPHA:284289|DOID:0050999|UMLS:C3150998 http://purl.obolibrary.org/obo/MONDO_0013392 ANO10 autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 10; SCAR10|autosomal recessive spinocerebellar ataxia type 10|autosomal recessive cerebellar ataxia caused by mutation in ANO10|SCAR10|spinocerebellar ataxia, autosomal recessive type 10|adult-onset autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 10 ordo_disease MONDO:0013393 distal 7q11.23 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|UMLS:C3150999|OMIM:613729|Orphanet:254351 Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). http://identifiers.org/omim/613729|ORPHA:254351|UMLS:C3150999 http://purl.obolibrary.org/obo/MONDO_0013393 chromosome 7q11.23 deletion syndrome, distal, 1.2-MB|distal del(7)(q11.23)|distal monosomy 7q11.23|distal chromosome 7Q11.23 deletion syndrome ordo_malformation_syndrome ENVO:01000230 arid biolink:OntologyClass mondo An environmental condition in which annual precipitation is less than half of annual potential evapotranspiration. http://purl.obolibrary.org/obo/ENVO_01000230 MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q biolink:Disease mondo UMLS:C3150989|DOID:0110285|ICD10:G71.0|OMIM:613723|Orphanet:254361|GARD:0012542 Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. http://identifiers.org/omim/613723|ORPHA:254361|DOID:0110285|UMLS:C3150989 http://purl.obolibrary.org/obo/MONDO_0013390 muscular dystrophy, limb-girdle, type 2Q; LGMD2Q|limb-girdle muscular dystrophy type 2Q|muscular dystrophy, limb-girdle, type 2Q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency|LGMD2Q ordo_disease MONDO:0013391 leukoencephalopathy-dystonia-motor neuropathy syndrome biolink:Disease mondo Orphanet:163684|ICD10:E75.2|GARD:0012471|UMLS:C3150990|OMIM:613724 Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. http://identifiers.org/omim/613724|ORPHA:163684|UMLS:C3150990 http://purl.obolibrary.org/obo/MONDO_0013391 leukoencephalopathy with dystonia and motor neuropathy|sterol carrier Protein 2 deficiency|LKDMN|leukoencephalopathy with dystonia and motor neuropathy; LKDMN|leukoencephalopathy - dystonia - motor neuropathy ordo_disease MONDO:0040925 latent yaws biolink:Disease mondo UMLS:C0153240|SCTID:186973005 SNOMEDCT:186973005|UMLS:C0153240 http://purl.obolibrary.org/obo/MONDO_0040925 latent yaws MONDO:0013396 chromosome 1p32-p31 deletion syndrome biolink:Disease mondo DOID:0060409|OMIM:613735|SCTID:766766005|ICD10:Q93.5|UMLS:CN226149|UMLS:C3151036|Orphanet:401986 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. SNOMEDCT:766766005|UMLS:CN226149|ORPHA:401986|http://identifiers.org/omim/613735|UMLS:C3151036|DOID:0060409 http://purl.obolibrary.org/obo/MONDO_0013396 monosomy 1p31p32|BRMUTD|brain malformations with or without urinary tract defects|chromosome 1p32-p31 deletion syndrome|brain malformations with or without urinary tract defects; BRMUTD|Del(1)(p31p32)|1p31p32 microdeletion syndrome ordo_malformation_syndrome MONDO:0013397 acne inversa, familial, 2 biolink:Disease mondo OMIM:613736|UMLS:C3151037 Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene. http://identifiers.org/omim/613736|UMLS:C3151037 http://purl.obolibrary.org/obo/MONDO_0013397 acne inversa, familial, 2, with or without Dowling-Degos disease|acne inversa, familial, 2|ACNINV2|familial acne inversa caused by mutation in PSENEN|PSENEN familial acne inversa|acne inversa, familial, 2, with or without Dowling-Degos disease; ACNINV2|acne inversa, familial, 2; ACNINV2|acne inversa, familial, type 2 NCBITaxon:11020 Barmah Forest virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11020 MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome biolink:Disease mondo Orphanet:306547|OMIM:613730|UMLS:C3151000 ORPHA:306547|http://identifiers.org/omim/613730|UMLS:C3151000 http://purl.obolibrary.org/obo/MONDO_0013394 hemorrhagic destruction of the brain, subependymal calcification, and cataracts; HDBSCC|HDBSCC|hemorrhagic destruction of the brain, subependymal calcification, and cataracts ordo_malformation_syndrome MONDO:0013395 retinitis pigmentosa 4 biolink:Disease mondo ICD10:H35.5|OMIM:613731|MESH:C566706|GARD:0010405|DOID:0110372|HGNC:10012|UMLS:C3151001 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene. http://identifiers.org/omim/613731|UMLS:C3151001|MESH:C566706|DOID:0110372 http://purl.obolibrary.org/obo/MONDO_0013395 RHO retinitis pigmentosa|retinitis pigmentosa, rhodopsin-related|retinitis pigmentosa caused by mutation in RHO|RP 4|RP4|retinitis pigmentosa 4|retinitis pigmentosa 4; RP4|retinitis pigmentosa type 4 gard_rare NCBITaxon:11036 Venezuelan equine encephalitis virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11036 VEEV|VEE|Venezuelan equine encephalomyelitis virus|Venezuelan equine encephalitis VEE|Venezuelan equine encephalitis virus VEE MONDO:0025369 Nairobi sheep disease biolink:Disease mondo MESH:D009265|SCTID:24069003|UMLS:C0027345 An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis. SNOMEDCT:24069003|UMLS:C0027345|MESH:D009265 http://purl.obolibrary.org/obo/MONDO_0025369 sheep disease, Nairobi|disease, Nairobi sheep NCBITaxon:11039 Western equine encephalitis virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11039 Western equine encephalomyelitis virus HGNC:26742 NAT8L biolink:OntologyClass mondo http://identifiers.org/hgnc/26742 CL:0000295 somatotropin secreting cell biolink:Cell mondo A peptide hormone secreting cell that produces growth hormone, somatotropin. http://purl.obolibrary.org/obo/CL_0000295 somatotrophin secreting cell|growth hormone secreting cell MONDO:0013389 developmental and epileptic encephalopathy, 12 biolink:Disease mondo UMLS:C3150988|GARD:0013318|OMIM:613722 Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion. UMLS:C3150988|http://identifiers.org/omim/613722 http://purl.obolibrary.org/obo/MONDO_0013389 early infantile epileptic encephalopathy caused by mutation in PLCB1|early infantile epileptic encephalopathy 12|epileptic encephalopathy, early infantile, 12; EIEE12|epileptic encephalopathy, early infantile, 12|DEE12|PLCB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 12|EIEE12 gard_rare ECTO:9000016 hydrogen chloride exposure biolink:OntologyClass mondo An exposure to hydrogen chloride. http://purl.obolibrary.org/obo/ECTO_9000016 exposure to hydrogen chloride MONDO:0013387 developmental and epileptic encephalopathy, 7 biolink:Disease mondo Orphanet:439218|GARD:0013060|UMLS:C3150986|OMIM:613720|ICD10:G40.4 KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. UMLS:C3150986|ORPHA:439218|http://identifiers.org/omim/613720 http://purl.obolibrary.org/obo/MONDO_0013387 KCNQ2-related disorders|KCNQ2-related epileptic encephalopathy|KCNQ2-NEE|epileptic encephalopathy, early infantile, 7; EIEE7|DEE7|epileptic encephalopathy, early infantile, type 7|KCNQ2-related neonatal epileptic encephalopathy|EIEE7|epileptic encephalopathy, early infantile, 7 ordo_disease|clingen ECTO:9000019 acetic acid exposure biolink:OntologyClass mondo An exposure to acetic acid. http://purl.obolibrary.org/obo/ECTO_9000019 exposure to acetic acid MONDO:0013388 developmental and epileptic encephalopathy, 11 biolink:Disease mondo UMLS:C3150987|OMIM:613721 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene. UMLS:C3150987|http://identifiers.org/omim/613721 http://purl.obolibrary.org/obo/MONDO_0013388 epileptic encephalopathy, early infantile, 11|epileptic encephalopathy, early infantile, type 11|epileptic encephalopathy, early infantile, 11; EIEE11|DEE11|early infantile epileptic encephalopathy caused by mutation in SCN2A|EIEE11|SCN2A early infantile epileptic encephalopathy MONDO:0013381 neuropathy, hereditary sensory, type 1D biolink:Disease mondo UMLS:C3150972|DOID:0070156|OMIM:613708 A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q. DOID:0070156|http://identifiers.org/omim/613708|UMLS:C3150972 http://purl.obolibrary.org/obo/MONDO_0013381 neuropathy, hereditary sensory, type ID; HSN1D|HSN1D|hereditary sensory neuropathy type 1D|neuropathy, hereditary sensory, type ID|hereditary sensory neuropathy type ID MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis biolink:Disease mondo OMIM:613710|UMLS:C3150973|Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. ORPHA:217396|http://identifiers.org/omim/613710|UMLS:C3150973 http://purl.obolibrary.org/obo/MONDO_0013382 bilateral striatal Degeneration and progressive polyneuropathy|THMD4|thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type); THMD4|thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)|progressive polyneuropathy with bilateral striatal necrosis|striatal Necrosis, bilateral, and progressive polyneuropathy ordo_disease MONDO:0013380 LEOPARD syndrome 3 biolink:Disease mondo UMLS:C3150971|OMIM:613707 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene. http://identifiers.org/omim/613707|UMLS:C3150971 http://purl.obolibrary.org/obo/MONDO_0013380 BRAF Noonan syndrome with multiple lentigines|leopard syndrome 3|LPRD3|Leopard syndrome type 3|LEOPARD syndrome 3; LPRD3|Noonan syndrome with multiple lentigines caused by mutation in BRAF MONDO:0013385 Treacher Collins syndrome 2 biolink:Disease mondo UMLS:C3150983|OMIM:613717 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene. http://identifiers.org/omim/613717|UMLS:C3150983 http://purl.obolibrary.org/obo/MONDO_0013385 TREACHER COLLINS syndrome 2; TCS2|Treacher Collins syndrome 2|POLR1D Treacher-Collins syndrome|Treacher Collins syndrome type 2|Treacher-Collins syndrome caused by mutation in POLR1D|TCS2 MONDO:0013386 autosomal recessive nonsyndromic deafness 74 biolink:Disease mondo DOID:0110523|OMIM:613718|UMLS:C2239351|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene. UMLS:C2239351|http://identifiers.org/omim/613718|DOID:0110523 http://purl.obolibrary.org/obo/MONDO_0013386 deafness, autosomal recessive type 74|deafness, autosomal recessive 74|MSRB3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 74; DFNB74|autosomal recessive nonsyndromic deafness type 74|autosomal recessive nonsyndromic deafness caused by mutation in MSRB3|autosomal recessive deafness 74|DFNB74 clingen MONDO:0013383 Hirschsprung disease, susceptibility to, 3 biolink:Disease mondo MESH:C538121|UMLS:C2931739|OMIM:613711|GARD:0002699 UMLS:C2931739|MESH:C538121|http://identifiers.org/omim/613711 http://purl.obolibrary.org/obo/MONDO_0013383 Hirschsprung disease type 3|susceptibility to Hirschsprung disease 3|Hirschsprung disease, susceptibility to, 3|GDNF Hirschsprung disease|Hirschsprung disease modifier|Hirschsprung disease caused by mutation in GDNF|Hirschsprung disease, susceptibility to, type 3|HSCR3|Hirschsprung disease, susceptibility to, 3; HSCR3 gard_rare|predisposition MONDO:0013384 Hirschsprung disease, susceptibility to, 4 biolink:Disease mondo OMIM:613712 Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene. http://identifiers.org/omim/613712 http://purl.obolibrary.org/obo/MONDO_0013384 Hirschsprung disease, susceptibility to, 4; HSCR4|susceptibility to Hirschsprung disease 4|Hirschsprung disease, susceptibility to, 4|HSCR4|EDN3 Hirschsprung disease|Hirschsprung disease caused by mutation in EDN3|Hirschsprung disease, susceptibility to, type 4 predisposition MONDO:0001389 congenital coronary artery anomaly biolink:Disease mondo DOID:11843|COHD:321109|ICD9:746.85|SCTID:28574005 DOID:11843|SNOMEDCT:28574005 http://purl.obolibrary.org/obo/MONDO_0001389 coronary artery anomaly, congenital|coronary artery abnormality|coronary artery anomaly|coronary artery abnormality [ambiguous]|congenital anomaly of coronary artery MONDO:0001388 glans penis cancer biolink:Disease mondo SCTID:363451005|ICD10:C60.1|ICD9:187.2|DOID:11839|UMLS:C0153599 A malignant neoplasm involving the glans penis. SNOMEDCT:363451005|DOID:11839|UMLS:C0153599 http://purl.obolibrary.org/obo/MONDO_0001388 malignant glans penis neoplasm|malignant neoplasm of glans penis|malignant tumor of glans penis|cancer of glans penis|malignant tumour of glans penis|glans penis cancer MONDO:0001387 penile sarcoma biolink:Disease mondo NCIT:C7730|DOID:11838|UMLS:C0238352 A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma. NCIT:C7730|DOID:11838|UMLS:C0238352 http://purl.obolibrary.org/obo/MONDO_0001387 penis sarcoma|sarcoma of penis|penile sarcoma|sarcoma of the penis MONDO:0001386 visual epilepsy biolink:Disease mondo DOID:11832|UMLS:C0270824|SCTID:39194005|MESH:D012640|NCIT:C3980 Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.' DOID:11832|NCIT:C3980|UMLS:C0270824|MESH:D012640|SNOMEDCT:39194005 http://purl.obolibrary.org/obo/MONDO_0001386 epilepsy, visual ECTO:7000008 exposure to clay biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to clay. http://purl.obolibrary.org/obo/ECTO_7000008 clay exposure ENVO:01000256 mineral material biolink:OntologyClass mondo A mineral material is an environmental material which is primarily composed of some substance that is naturally occurring, solid and stable at room temperature, representable by a chemical formula, usually abiogenic, and that has an ordered atomic structure. http://purl.obolibrary.org/obo/ENVO_01000256 MONDO:0001381 bladder lymphoma biolink:Disease mondo UMLS:C1332561|NCIT:C6164|DOID:11821 A lymphoma that involves the urinary bladder. DOID:11821|UMLS:C1332561|NCIT:C6164 http://purl.obolibrary.org/obo/MONDO_0001381 lymphoma of urinary bladder|primary bladder lymphoma|urinary bladder lymphoma|lymphoma of the urinary bladder|lymphoma of the bladder|lymphoma of bladder MONDO:0001380 bladder dome cancer biolink:Disease mondo SCTID:188240003|ICD10:C67.1|UMLS:C0496827|ICD9:188.1|DOID:11820 Cancer of the upper, convex surface of the bladder. DOID:11820|NCIT:C12332|UMLS:C0496827|SNOMEDCT:188240003 http://purl.obolibrary.org/obo/MONDO_0001380 malignant neoplasm of fundus of urinary bladder|malignant neoplasm of dome of urinary bladder|fundus of urinary bladder cancer|malignant fundus of urinary bladder neoplasm|superior surface of bladder|malignant tumor of vault of bladder|cancer of fundus of urinary bladder|malignant neoplasm of apex of urinary bladder MONDO:0001385 cortical blindness biolink:Disease mondo MESH:D019575|SCTID:68574006|DOID:11831|NCIT:C118707|COHD:253482|ICD9:377.75|UMLS:C0155320|ICD10:H47.61 Visual impairment due to visual cortex dysfunction. MESH:D019575|UMLS:C0155320|DOID:11831|SNOMEDCT:68574006|NCIT:C118707 http://purl.obolibrary.org/obo/MONDO_0001385 MONDO:0001384 myopia (disease) biolink:Disease mondo EFO:0003927|DOID:11830|UMLS:C0027092|COHD:379805|ICD10:H52.1|ICD9:367.1|SCTID:57190000|MESH:D009216|HP:0000545|OMIMPS:160700 The condition in which the individual does not see far distances clearly. NCIT:C102533|DOID:11830|UMLS:C0027092|MESH:D009216|SNOMEDCT:57190000 http://purl.obolibrary.org/obo/MONDO_0001384 near vision|near-sightedness|short-sightedness|myopia MONDO:0001383 degenerative myopia biolink:Disease mondo COHD:381281|ICD9:360.21|MESH:D047728|DOID:11829|UMLS:C0154778|SCTID:32022003|ICD10:H44.2|EFO:0004207 Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness. SNOMEDCT:32022003|MESH:D047728|DOID:11829|UMLS:C0154778 http://purl.obolibrary.org/obo/MONDO_0001383 pathological myopia|progressive high (degenerative) myopia|progressive high myopia|degenerative progressive high myopia MONDO:0001382 hepatorenal syndrome biolink:Disease mondo ICD9:572.4|GARD:0006610|NCIT:C113400|UMLS:C0019212|SCTID:51292008|MESH:D006530|COHD:196455|ICD10:K76.7|DOID:11823 Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant. NCIT:C113400|MESH:D006530|DOID:11823|SNOMEDCT:51292008|UMLS:C0019212 http://purl.obolibrary.org/obo/MONDO_0001382 hepato-renal syndrome gard_rare MONDO:0013378 orofacial cleft 10 biolink:Disease mondo MESH:C566605|OMIM:613705 Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene. http://identifiers.org/omim/613705|MESH:C566605 http://purl.obolibrary.org/obo/MONDO_0013378 orofacial cleft 10|SUMO1 orofacial cleft|orofacial cleft 10; OFC10|OFC10|orofacial cleft caused by mutation in SUMO1|cleft lip with or without cleft palate, nonsyndromic, 10|orofacial cleft type 10 PO:0009085 exocarp biolink:OntologyClass mondo A portion of plant tissue (PO:0009007) that is the outer layer of a pericarp (PO:0009084). http://purl.obolibrary.org/obo/PO_0009085 MONDO:0013379 Noonan syndrome 7 biolink:Disease mondo DOID:0060585|OMIM:613706|UMLS:C3150970 Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. UMLS:C3150970|DOID:0060585|http://identifiers.org/omim/613706 http://purl.obolibrary.org/obo/MONDO_0013379 Noonan syndrome type 7|Noonan syndrome 7|Noonan syndrome caused by mutation in BRAF|BRAF Noonan syndrome|Noonan syndrome 7; NS7|NS7 MONDO:0013376 microphthalmia, isolated, with coloboma 6 biolink:Disease mondo UMLS:C3150968|OMIM:613703 UMLS:C3150968|http://identifiers.org/omim/613703 http://purl.obolibrary.org/obo/MONDO_0013376 microphthalmia, isolated, with coloboma type 6|MCOPCB6|microphthalmia, isolated, with coloboma 6; MCOPCB6|microphthalmia, isolated, with coloboma 6 PO:0009087 mesocarp biolink:OntologyClass mondo A portion of plant tissue (PO:0009007) that is the middle layer of a pericarp (PO:0009084). http://purl.obolibrary.org/obo/PO_0009087 MONDO:0013377 isolated microphthalmia 7 biolink:Disease mondo DOID:0060838|ICD10:Q11.0|UMLS:C3150969|OMIM:613704 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene. UMLS:C3150969|DOID:0060838|http://identifiers.org/omim/613704 http://purl.obolibrary.org/obo/MONDO_0013377 microphthalmia, isolated 7|GDF3 isolated microphthalmia|MCOP7|microphthalmia, isolated type 7|isolated microphthalmia caused by mutation in GDF3|isolated microphthalmia type 7|microphthalmia, isolated 7; MCOP7 MONDO:0013370 long QT syndrome 6 biolink:Disease mondo HGNC:6242|GARD:0010434|DOID:0110648|OMIM:613693|ICD10:I45.8|MESH:C566333|UMLS:C3150953 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene. http://identifiers.org/omim/613693|MESH:C566333|DOID:0110648|UMLS:C3150953 http://purl.obolibrary.org/obo/MONDO_0013370 LQT6|long QT syndrome 3/6, digenic|long QT syndrome 6; LQT6|long QT syndrome 6, acquired, susceptibility to|long QT syndrome caused by mutation in KCNE2|long QT syndrome type 6|KCNE2 long QT syndrome|long QT syndrome 6 gard_rare MONDO:0013371 dilated cardiomyopathy 1U biolink:Disease mondo OMIM:613694|MESH:C566296|DOID:0110455|UMLS:C3160720|ICD10:I42.0 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene. UMLS:C3160720|http://identifiers.org/omim/613694|MESH:C566296|DOID:0110455 http://purl.obolibrary.org/obo/MONDO_0013371 PSEN1 familial isolated dilated cardiomyopathy|CMD1U|dilated cardiomyopathy type 1U|familial isolated dilated cardiomyopathy caused by mutation in PSEN1|cardiomyopathy, dilated, type 1U|cardiomyopathy, dilated, 1U; CMD1U|cardiomyopathy, dilated, 1U ENVO:01000254 environmental system biolink:OntologyClass mondo A system which has the disposition to environ one or more material entities. http://purl.obolibrary.org/obo/ENVO_01000254 environment MONDO:0013374 supernumerary der(22)t(8;22) syndrome biolink:Disease mondo UMLS:C3150966|OMIM:613700 UMLS:C3150966|http://identifiers.org/omim/613700 http://purl.obolibrary.org/obo/MONDO_0013374 supernumerary der(22)t(8;22) syndrome MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant biolink:Disease mondo UMLS:C3150967|OMIM:613702 Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene. UMLS:C3150967|http://identifiers.org/omim/613702 http://purl.obolibrary.org/obo/MONDO_0013375 GDF3 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in GDF3|KFS3|Klippel-FEIL syndrome 3, autosomal dominant; KFS3|Klippel-Feil syndrome 3, autosomal dominant MONDO:0013372 long QT syndrome 5 biolink:Disease mondo HGNC:6240|MESH:C566766|UMLS:C1867904|GARD:0010433|OMIM:613695|ICD10:I45.8|DOID:0110647 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene. UMLS:C1867904|DOID:0110647|http://identifiers.org/omim/613695|MESH:C566766 http://purl.obolibrary.org/obo/MONDO_0013372 long QT syndrome 2/5, digenic|LQT5|long QT syndrome 5|long QT syndrome 5, acquired, susceptibility to|long QT syndrome 5; LQT5|long QT syndrome caused by mutation in KCNE1|KCNE1 long QT syndrome|long QT syndrome type 5 gard_rare MONDO:0013373 dilated cardiomyopathy 1V biolink:Disease mondo UMLS:C3150958|MESH:C566856|OMIM:613697|DOID:0110427|ICD10:I42.0 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene. UMLS:C3150958|http://identifiers.org/omim/613697|MESH:C566856|DOID:0110427 http://purl.obolibrary.org/obo/MONDO_0013373 cardiomyopathy, dilated, 1V; CMD1V|dilated cardiomyopathy type 1V|cardiomyopathy, dilated, 1V|PSEN2 familial isolated dilated cardiomyopathy|CMD1V|familial isolated dilated cardiomyopathy caused by mutation in PSEN2|cardiomyopathy, dilated, type 1V HGNC:26724 ANKS6 biolink:OntologyClass mondo http://identifiers.org/hgnc/26724 MONDO:0001399 ureter leiomyoma biolink:Disease mondo DOID:11887|UMLS:C1336875|NCIT:C6161 A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C6161|UMLS:C1336875|DOID:11887 http://purl.obolibrary.org/obo/MONDO_0001399 leiomyoma of ureter|leiomyoma of the ureter|ureteral leiomyoma|ureter leiomyoma MONDO:0001398 ureter benign neoplasm biolink:Disease mondo NCIT:C3617|ICD9:223.2|DOID:11885|SCTID:92464009|COHD:198103 Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom. DOID:11885|SNOMEDCT:92464009|NCIT:C3617 http://purl.obolibrary.org/obo/MONDO_0001398 neoplasm of ureter|benign ureteric neoplasm|benign ureteral neoplasm|benign ureteric neoplasm NOS|benign tumor of ureter|benign tumor of the ureter|ureteral tumor|benign neoplasm of ureter|benign neoplasm of the ureter|benign ureter neoplasm|benign ureter tumor|ureteral benign neoplasm|ureter benign neoplasm|benign ureteral tumor MONDO:0001397 mononeuropathy biolink:Disease mondo MESH:D020422|ICD10:G58.9|UMLS:C0494491|SCTID:128189008|COHD:4134455|DOID:1188 Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions. DOID:1188|MESH:D020422|UMLS:C0494491|SNOMEDCT:128189008 http://purl.obolibrary.org/obo/MONDO_0001397 ECTO:7000018 exposure to rock biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to rock. http://purl.obolibrary.org/obo/ECTO_7000018 rock exposure NCBITaxon:11018 Togaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11018 NCBITaxon:11019 Alphavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11019 arboviruses group A|Alphaviridae MONDO:0001392 monocular exotropia biolink:Disease mondo COHD:375274|ICD9:378.11|SCTID:5725006|UMLS:C0152206|ICD10:H50.11|DOID:11853 DOID:11853|UMLS:C0152206|SNOMEDCT:5725006 http://purl.obolibrary.org/obo/MONDO_0001392 MONDO:0001391 indeterminate leprosy biolink:Disease mondo DOID:11851|ICD10:A30.0|SCTID:14386001|UMLS:C0021192|ICD9:030.2 A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. SNOMEDCT:14386001|UMLS:C0021192|DOID:11851 http://purl.obolibrary.org/obo/MONDO_0001391 indeterminate leprosy [group I]|uncharacteristic leprosy MONDO:0001390 transient refractive change biolink:Disease mondo DOID:11850|SCTID:81519008|ICD9:367.81|UMLS:C0155000|COHD:380727 SNOMEDCT:81519008|DOID:11850|UMLS:C0155000 http://purl.obolibrary.org/obo/MONDO_0001390 MONDO:0001396 abnormal threshold of rods biolink:Disease mondo DOID:11874|UMLS:C0155019|ICD9:368.63|SCTID:50455002|ICD10:H53.61 DOID:11874|SNOMEDCT:50455002|UMLS:C0155019 http://purl.obolibrary.org/obo/MONDO_0001396 abnormal dark adaptation curve MONDO:0001395 macular keratitis biolink:Disease mondo DOID:11871|ICD10:H16.11|ICD9:370.22|SCTID:2853006|UMLS:C0155076 SNOMEDCT:2853006|DOID:11871|UMLS:C0155076 http://purl.obolibrary.org/obo/MONDO_0001395 MONDO:0001394 chronic erythremia biolink:Disease mondo DOID:11868|ICD9:207.1 DOID:11868 http://purl.obolibrary.org/obo/MONDO_0001394 ECTO:7000012 exposure to soil biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to soil. http://purl.obolibrary.org/obo/ECTO_7000012 soil exposure MONDO:0001393 peripheral focal chorioretinitis biolink:Disease mondo SCTID:56787009|UMLS:C0339394|ICD9:363.04|DOID:11864 DOID:11864|UMLS:C0339394|SNOMEDCT:56787009 http://purl.obolibrary.org/obo/MONDO_0001393 HP:0010295 Aplasia/Hypoplasia of the tongue biolink:PhenotypicFeature mondo UMLS:C4280384|UMLS:C4023916 Absence or underdevelopment of the tongue. http://purl.obolibrary.org/obo/HP_0010295 Lingual aplasia/hypoplasia MONDO:0013367 long QT syndrome 2 biolink:Disease mondo DOID:0110645|NCIT:C137957|GARD:0003285|UMLS:C3150943|MESH:C563614|OMIM:613688|HGNC:6251|ICD10:I45.8 An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. DOID:0110645|UMLS:C3150943|MESH:C563614|NCIT:C137957|http://identifiers.org/omim/613688 http://purl.obolibrary.org/obo/MONDO_0013367 long QT syndrome type 2|long QT syndrome 2; LQT2|long QT syndrome 1/2, digenic|LQT2|long QT syndrome 2/3, digenic|long QT syndrome 2/5, digenic|long QT syndrome 2, acquired, susceptibility to|long QT syndrome 2|long QT syndrome 2/9, digenic gard_rare MONDO:0013368 mammary-digital-nail syndrome biolink:Disease mondo SCTID:718679004|ICD10:Q87.2|UMLS:C3150946|OMIM:613689|Orphanet:238744 Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. ORPHA:238744|UMLS:C3150946|http://identifiers.org/omim/613689|SNOMEDCT:718679004 http://purl.obolibrary.org/obo/MONDO_0013368 onycho-digito-mammary syndrome|MDN syndrome|MDNS|mammary-digital-nail syndrome; MDNS|mammary-digital-nail syndrome ordo_malformation_syndrome MONDO:0013365 autosomal recessive nonsyndromic deafness 83 biolink:Disease mondo ICD10:H90.3|OMIM:613685|DOID:0110528 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2. DOID:0110528|http://identifiers.org/omim/613685 http://purl.obolibrary.org/obo/MONDO_0013365 deafness, autosomal recessive 83; DFNB83|autosomal recessive deafness 83|DFNB83|autosomal recessive nonsyndromic deafness type 83|deafness, autosomal recessive 83 MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive biolink:Disease mondo GARD:0004976|OMIM:613686|UMLS:C3150942 Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene. UMLS:C3150942|http://identifiers.org/omim/613686 http://purl.obolibrary.org/obo/MONDO_0013366 spondylocostal dysostosis 4|SCDO4|spondylocostal dysostosis 4, autosomal recessive|spondylocostal dysostosis 4, autosomal recessive; SCDO4|HES7 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in HES7|Hes7 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in Hes7 ECTO:7000020 exposure to sand biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to sand. http://purl.obolibrary.org/obo/ECTO_7000020 sand exposure MONDO:0013369 hypertrophic cardiomyopathy 7 biolink:Disease mondo DOID:0110313|OMIM:613690|UMLS:C1860752 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. UMLS:C1860752|DOID:0110313|http://identifiers.org/omim/613690 http://purl.obolibrary.org/obo/MONDO_0013369 cardiomyopathy, familial hypertrophic, 7|TNNI3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 7|hypertrophic cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial hypertrophic 7|CMH7|cardiomyopathy, familial hypertrophic, 7; CMH7|hypertrophic cardiomyopathy type 7 MONDO:0013360 brachyolmia, Maroteaux type biolink:Disease mondo Orphanet:93302|SCTID:389165004|OMIM:613678|ICD10:Q76.3 Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias. ORPHA:93302|SNOMEDCT:389165004|http://identifiers.org/omim/613678 http://purl.obolibrary.org/obo/MONDO_0013360 brachyolmia, Maroteaux type|brachyolmia type 2; BCYM2|BCYM2|brachyolmia type 2 ordo_malformation_syndrome MONDO:0013363 chromosome 2q31.1 duplication syndrome biolink:Disease mondo UMLS:C3150940|DOID:0060458|OMIM:613681 UMLS:C3150940|DOID:0060458|http://identifiers.org/omim/613681 http://purl.obolibrary.org/obo/MONDO_0013363 chromosome 2q31.1 duplication syndrome|mesomelic dysplasia, 2Q31.1 Duplication-related MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency biolink:Disease mondo NCIT:C153291|ICD10:Q87.2|UMLS:C3150941|Orphanet:353284|OMIM:613684 Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. UMLS:C3150941|NCIT:C153291|ORPHA:353284|http://identifiers.org/omim/613684 http://purl.obolibrary.org/obo/MONDO_0013364 EP300 Rubinstein-Taybi syndrome|Rubinstein-Taybi syndrome 2|Rubinstein-Taybi syndrome type 2|Rubinstein-Taybi syndrome caused by mutation in EP300|RSTS2|Rubinstein-Taybi syndrome 2; RSTS2 ordo_clinical_subtype MONDO:0013361 congenital prothrombin deficiency biolink:Disease mondo UMLS:C0020640|SCTID:73975000|OMIM:613679|ICD9:286.3|Orphanet:325|DOID:2235|NCIT:C131737|GARD:0002235|MESH:D007020|ICD10:D68.2 Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms. DOID:2235|SNOMEDCT:73975000|NCIT:C131737|UMLS:C0020640|http://identifiers.org/omim/613679|MESH:D007020|ORPHA:325 http://purl.obolibrary.org/obo/MONDO_0013361 factor 2 deficiency|Dysprothrombinemia|hereditary prothrombin deficiency|hypoprothrombinemia|prothrombin deficiency|factor II deficiency|prothrombin deficiency, congenital|congenital factor II deficiency ordo_disease|gard_rare MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome biolink:Disease mondo OMIM:613680|UMLS:C3150939|Orphanet:363444|ICD10:Q87.0 UMLS:C3150939|http://identifiers.org/omim/613680|ORPHA:363444 http://purl.obolibrary.org/obo/MONDO_0013362 BEAULIEU-BOYCOTT-Innes syndrome; BBIS|Beaulieu-Boycott-Innes syndrome|BBIS|BEAULIEU-BOYCOTT-Innes syndrome|microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations|microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations ordo_malformation_syndrome NCBITaxon:1301 Streptococcus organism taxon mondo PMID:1720654|PMID:8995803|GC_ID:11|PMID:10555340|PMID:7537076|PMID:19620365|PMID:14657115|PMID:19880633 http://purl.obolibrary.org/obo/NCBITaxon_1301 MONDO:0003821 ovarian biphasic or triphasic teratoma biolink:Disease mondo UMLS:C1518691|DOID:6232|NCIT:C39992 A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. UMLS:C1518691|NCIT:C39992|DOID:6232 http://purl.obolibrary.org/obo/MONDO_0003821 ovarian biphasic or triphasic teratoma CHEBI:25699 organic ion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25699 organic ions MONDO:0003822 non-invasive bladder papillary urothelial neoplasm biolink:Disease mondo UMLS:C1518358|NCIT:C39831|DOID:6239 A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas. UMLS:C1518358|NCIT:C39831|DOID:6239 http://purl.obolibrary.org/obo/MONDO_0003822 papillary urothelial neoplasm of low malignant potential|non-invasive bladder papillary urothelial neoplasm|bladder papillary neoplasm of low malignant potential|bladder PUNLMP CHEBI:25698 ether biolink:ChemicalSubstance mondo An organooxygen compound with formula ROR, where R is not hydrogen. http://purl.obolibrary.org/obo/CHEBI_25698 ethers|ether|ethers CHEBI:25697 organic cation biolink:ChemicalSubstance mondo Any organic ion with a net positive charge. http://purl.obolibrary.org/obo/CHEBI_25697 organic cations MONDO:0003823 obsolete transient hypogammaglobulinemia of infancy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003823 MONDO:0003824 hereditary kidney oncocytoma biolink:Disease mondo DOID:6244|UMLS:C0879606|NCIT:C8960 An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. UMLS:C0879606|NCIT:C8960|DOID:6244 http://purl.obolibrary.org/obo/MONDO_0003824 familial renal oncocytoma|hereditary kidney oncocytoma|hereditary renal oncocytoma CHEBI:25696 organic anion biolink:ChemicalSubstance mondo Any organic ion with a net negative charge. http://purl.obolibrary.org/obo/CHEBI_25696 organic anions UBERON:0000457 cavernous artery biolink:AnatomicalEntity mondo Any of several small branches of the internal carotid artery that supply the trigeminal ganglion and the walls of the cavernous and petrosal sinuses. http://purl.obolibrary.org/obo/UBERON_0000457 cavernous branch of cavernous part of internal carotid artery|ramus sinus cavernosi (pars cavernosa) (arteria carotis interna) UBERON:0000458 endocervix biolink:AnatomicalEntity mondo The region of the opening of the uterine cervix into the uterine cavity. http://purl.obolibrary.org/obo/UBERON_0000458 UBERON:0000459 uterine wall biolink:AnatomicalEntity mondo An anatomical wall that is part of a uterus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000459 anatomical wall of uterus|uterus anatomical wall|uterus wall|wall of uterus MONDO:0003820 mature ovarian teratoma biolink:Disease mondo DOID:6231|NCIT:C8112|ONCOTREE:OMT|UMLS:C1334637 An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. UMLS:C1334637|DOID:6231|NCIT:C8112 http://purl.obolibrary.org/obo/MONDO_0003820 mature ovarian teratoma|mature teratoma of ovary|mature teratoma|ovary mature teratoma|mature teratoma of the ovary NCBITaxon:1300 Streptococcaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1300 MONDO:0015807 myopic macular degeneration biolink:Disease mondo UMLS:C0730271|SCTID:312898002|Orphanet:178493|EFO:0009201|ICD10:H35.3 UMLS:C0730271|SNOMEDCT:312898002|ORPHA:178493 http://purl.obolibrary.org/obo/MONDO_0015807 myopic maculopathy ordo_disease MONDO:0015806 adult intestinal botulism biolink:Disease mondo NCIT:C128344|ICD10:A05.1|Orphanet:178487|UMLS:C4289991 A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. NCIT:C128344|UMLS:C4289991|ORPHA:178487 http://purl.obolibrary.org/obo/MONDO_0015806 intestinal botulism of adults|adult intestinal colonization botulism|adult intestinal toxemia botulism|adult intestinal toxin-mediated botulism|infant-like botulism ordo_clinical_subtype MONDO:0015805 intestinal botulism biolink:Disease mondo UMLS:C1443901|SCTID:409563004|ICD10:A05.1|DOID:0050141|Orphanet:178481 A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism). UMLS:C1443901|ORPHA:178481|DOID:0050141|SNOMEDCT:409563004 http://purl.obolibrary.org/obo/MONDO_0015805 intestinal colonization botulism|intestinal toxin-mediated botulism|intestinal toxemia botulism ordo_clinical_subtype MONDO:0015804 infant botulism biolink:Disease mondo UMLS:C0238027|NCIT:C128343|DOID:0050354|ICD10:A05.1|SCTID:414488002|ICD10:A48.51|Orphanet:178478 A botulism that occurs between 28 days to one year of life.. SNOMEDCT:414488002|UMLS:C0238027|ORPHA:178478|DOID:0050354|NCIT:C128343 http://purl.obolibrary.org/obo/MONDO_0015804 infant intestinal toxin-mediated botulism|infantile onset botulism|botulism of infancy|infantile botulism|infant intestinal toxemia botulism|infant intestinal botulism ordo_clinical_subtype FOODON:03420293 fruit core (anatomical part) biolink:OntologyClass mondo The hard, central part of an apple, pear, etc., that contains the seeds (Source: Webster's) http://purl.obolibrary.org/obo/FOODON_03420293 MONDO:0015809 localized pagetoid reticulosis biolink:Disease mondo NCIT:C35794|ICD10:C84.0|SCTID:404120006|ICD9:202.70|MESH:D056267|Orphanet:178517|UMLS:C1276140 A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported. NCIT:C35794|UMLS:C1276140|SNOMEDCT:404120006|MESH:D056267|ORPHA:178517 http://purl.obolibrary.org/obo/MONDO_0015809 pagetoid reticulosis|localized reticulosis|pagetoid reticulosis, Woringer-Kolopp type|localised reticulosis ordo_disease CHEBI:25693 organic heteromonocyclic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25693 organic heteromonocyclic compounds MONDO:0015808 folliculotropic mycosis fungoides biolink:Disease mondo UMLS:C1627767|ICD10:C84.0|SCTID:404109006|NCIT:C35685|Orphanet:178512|ICD9:701.8 Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area. UMLS:C1627767|SNOMEDCT:404109006|ORPHA:178512|NCIT:C35685 http://purl.obolibrary.org/obo/MONDO_0015808 alopecia mucinosa (t cell lymphoma)|follicular mycosis fungoides|follicular mucinosis type mycosis fungoides|mycosis fungoides-associated follicular mucinosis|folliculotropic mycosis fungoides ordo_disease MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma biolink:Disease mondo ICD10:C84.4|Orphanet:178522 ORPHA:178522 http://purl.obolibrary.org/obo/MONDO_0015810 ordo_disease HGNC:9988 RFXAP biolink:OntologyClass mondo http://identifiers.org/hgnc/9988 HGNC:7325 MSH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7325 UBERON:0012437 epithelial-mesenchymal boundary biolink:AnatomicalEntity mondo A anatomical line that adjacent_to a epithelium and adjacent_to a mesenchyme. http://purl.obolibrary.org/obo/UBERON_0012437 HGNC:9986 RFX5 biolink:OntologyClass mondo http://identifiers.org/hgnc/9986 CL:1000331 serous cell of epithelium of bronchus biolink:Cell mondo FMA:263080 A serous secreting cell that is part of the epithelium of bronchus. http://purl.obolibrary.org/obo/CL_1000331 HGNC:9987 RFXANK biolink:OntologyClass mondo http://identifiers.org/hgnc/9987 HGNC:7326 MSH3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7326 MONDO:0015814 primary cutaneous follicle center lymphoma biolink:Disease mondo Orphanet:178540|ICDO:9597/3|SCTID:404143002|NCIT:C7217|ICD10:C82.6|ONCOTREE:PCFCL|UMLS:C1333171 A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin. SNOMEDCT:404143002|UMLS:C1333171|ORPHA:178540|NCIT:C7217|UMLS:C1631066 http://purl.obolibrary.org/obo/MONDO_0015814 cutaneous follicle centre lymphoma|PCFCL|Crosti's disease|cutaneous follicle center lymphoma|Reticulohistiocytoma of the dorsum ordo_disease FOODON:03420294 fruit peel (anatomical part) biolink:OntologyClass mondo The rind or skin of fruit http://purl.obolibrary.org/obo/FOODON_03420294 HGNC:7329 MSH6 biolink:OntologyClass mondo http://identifiers.org/hgnc/7329 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma biolink:Disease mondo ICD10:C83.0|NCIT:C7230|UMLS:C1275321|Orphanet:178536|SCTID:404140004 Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder. MESH:D018442|UMLS:C1275321|SNOMEDCT:404140004|ORPHA:178536|NCIT:C7230 http://purl.obolibrary.org/obo/MONDO_0015813 cutaneous Immunocytoma|C-MALT|salt lymphoma|Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue|marginal zone B cell lymphoma of skin|marginal zone B cell lymphoma of the skin|skin-associated lymphoid tissue lymphoma|Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|PCMZL|Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue ordo_disease FOODON:03420295 fruit seed (anatomical part) biolink:OntologyClass mondo The part of a flowering plant that typically contains the embryo with its protective coat and stored food and that can develop into a new plant under the proper conditions; fertilised and mature ovule (Source: Webster's). Seeds and fruits commonly called seeds include: grain, kernel, berry, ear, corn, nut. (Source: Webster's Thesaurus). http://purl.obolibrary.org/obo/FOODON_03420295 MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma biolink:Disease mondo ICD10:C84.4|Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported. ORPHA:178533 http://purl.obolibrary.org/obo/MONDO_0015812 ordo_disease MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma biolink:Disease mondo Orphanet:178528|SCTID:765136002|ICD10:C84.4 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared. SNOMEDCT:765136002|ORPHA:178528 http://purl.obolibrary.org/obo/MONDO_0015811 primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma|Berti lymphoma ordo_disease MONDO:0003818 childhood mature teratoma of the ovary biolink:Disease mondo DOID:6229|NCIT:C6548|UMLS:C1332991 A mature teratoma that arises from the ovary and occurs in children. UMLS:C1332991|NCIT:C6548|DOID:6229 http://purl.obolibrary.org/obo/MONDO_0003818 childhood mature ovarian teratoma|childhood mature teratoma of ovary|pediatric ovarian mature teratoma|pediatric mature teratoma of the ovary|pediatric mature teratoma of ovary|pediatric mature ovarian teratoma|pediatric mature ovarian teratoma|mature ovarian teratoma of childhood|childhood ovarian mature teratoma UBERON:0000464 anatomical space biolink:AnatomicalEntity mondo Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. http://purl.obolibrary.org/obo/UBERON_0000464 anatomical spaces|lumen space|lumen|space MONDO:0003819 childhood teratoma of the ovary biolink:Disease mondo NCIT:C6554|DOID:6230|UMLS:C1332992 A mature or immature teratoma that arises from the ovary and occurs in children. UMLS:C1332992|NCIT:C6554|DOID:6230 http://purl.obolibrary.org/obo/MONDO_0003819 pediatric ovarian teratoma|childhood teratoma of the ovary|childhood teratoma of ovary|ovarian teratoma of childhood|pediatric teratoma of ovary|pediatric ovarian teratoma|pediatric teratoma of the ovary|childhood ovarian teratoma UBERON:0000465 material anatomical entity biolink:AnatomicalEntity mondo Anatomical entity that has mass. http://purl.obolibrary.org/obo/UBERON_0000465 UBERON:0000466 immaterial anatomical entity biolink:AnatomicalEntity mondo Anatomical entity that has no mass. http://purl.obolibrary.org/obo/UBERON_0000466 immaterial physical anatomical entity UBERON:0000467 anatomical system biolink:AnatomicalEntity mondo Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. http://purl.obolibrary.org/obo/UBERON_0000467 connected anatomical system|system|anatomical systems|organ system|body system UBERON:0000460 major vestibular gland biolink:AnatomicalEntity mondo the paired glands located slightly posterior and to the left and right of the opening of the vagina in the superficial perineal pouch in females; they secrete mucus to lubricate the vagina and are homologous to bulbourethral (Cowper's) glands in males http://purl.obolibrary.org/obo/UBERON_0000460 greater vestibular gland|Tiedemann's gland|greater vestibular glands of Bartholin|Bartholin gland|Duverney's gland|vulvovaginal gland|glandula vestibularis major|Bartholin's gland MONDO:0003814 obsolete gastric diffuse adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003814 UBERON:0000461 minor vestibular gland biolink:AnatomicalEntity mondo Small mucous glands opening upon the vestibular mucous membrane between the urethral and the vaginal orifice. http://purl.obolibrary.org/obo/UBERON_0000461 Guérin's gland|Skene gland|paraurethral gland|glandula vestibular minor|Schueller's gland|urethral gland of female urethra|lesser vestibular gland|Skene's gland|periurethral gland|Guerin's gland|glandula vestibulares minor MONDO:0003815 obsolete Cronkhite-Canada syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003815 MONDO:0003816 articular cartilage disease biolink:Disease mondo DOID:6227|UMLS:C0158073|ICD9:718.02|ICD9:718.00|SCTID:53417006|ICD9:718.0 A disease involving the articular cartilage of joint. SNOMEDCT:53417006|DOID:6227|UMLS:C0158073 http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disorder involving multiple sites|articular cartilage disorder|articular cartilage disorder of shoulder region|articular cartilage disease|articular cartilage of joint disease|articular cartilage disorder involving forearm|articular cartilage disorder involving upper arm|articular cartilage disorder of forearm|articular cartilage disorder of hand|articular cartilage disorder of upper arm|articular cartilage of joint disease or disorder|disease of articular cartilage of joint|articular cartilage disorder involving hand|articular cartilage of joint disease|disorder of articular cartilage of joint|articular cartilage disorder of multiple sites|articular cartilage disorder involving ankle and foot|articular cartilage of joint disease|articular cartilage disorder of ankle and/or foot|disease of articular cartilage of joint|articular cartilage disorder of the pelvic region and thigh|disorder of articular cartilage|articular cartilage disorder involving pelvic region and thigh|disorder of articular cartilage of joint|articular cartilage disorder involving shoulder region|disease or disorder of articular cartilage of joint HGNC:7323 SEPTIN9 biolink:OntologyClass mondo http://identifiers.org/hgnc/7323 NCBITaxon:35278 unclassified ssRNA positive-strand viruses organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_35278 ssRNA positive-strand viruses|ssRNA positive-strand viruses, no DNA stage|unclassified ssRNA positive-strand viruses, no DNA stage MONDO:0003817 obsolete peritoneal serous papillary adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003817 UBERON:0000463 organism substance biolink:AnatomicalEntity mondo Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. http://purl.obolibrary.org/obo/UBERON_0000463 body substance|organism substance|portion of body substance|portion of organism substance|body fluid or substance MONDO:0003832 complement deficiency biolink:Disease mondo SCTID:24743004|Orphanet:459345|NCIT:C4691|UMLS:C0272242|DOID:626|ICD10:D80-D89|ICD10:D84.1|ICD9:279.8 A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. SNOMEDCT:24743004|NCIT:C4691|UMLS:C0272242|DOID:626|ORPHA:459345 http://purl.obolibrary.org/obo/MONDO_0003832 disorder of complement activation|immunodeficiency due to a complement cascade component deficiency|disorder of complement activation|complement deficiency|complement activation disease|complement deficiency disease ordo_group_of_disorders NCBITaxon:1313 Streptococcus pneumoniae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1313 Diplococcus pneumoniae|Micrococcus pneumoniae MONDO:0003833 obsolete severe combined immunodeficiency (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003833 MONDO:0003834 gastric cardia carcinoma biolink:Disease mondo NCIT:C6794|DOID:6270|EFO:1001252|UMLS:C1333763 A carcinoma that arises from epithelial cells of the cardia of stomach. NCIT:C6794|DOID:6270|UMLS:C1333763 http://purl.obolibrary.org/obo/MONDO_0003834 carcinoma of the gastric cardia|cardia of stomach carcinoma|gastric cardia cancer|carcinoma of cardia of stomach|cancer of gastric cardia|carcinoma of the cardia of the stomach|gastric cardia (stomach) cancer|carcinoma of gastric cardia|cancer of the gastric cardia NCBITaxon:1314 Streptococcus pyogenes organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1314 Streptococcus erysipelatos|Streptococcus scarlatinae|Micrococcus scarlatinae|Streptococcus hemolyticus HGNC:26821 CCDC141 biolink:OntologyClass mondo http://identifiers.org/hgnc/26821 MONDO:0003835 gastric cardia adenocarcinoma biolink:Disease mondo UMLS:C1333762|DOID:6271|NCIT:C5247 A carcinoma that arises from glandular epithelial cells of the cardia of stomach. NCIT:C5247|DOID:6271|UMLS:C1333762 http://purl.obolibrary.org/obo/MONDO_0003835 adenocarcinoma of the cardia of the stomach|cardia of stomach adenocarcinoma|adenocarcinoma of the gastric cardia|adenocarcinoma of gastric cardia|adenocarcinoma of cardia of stomach CHEBI:74634 cardenolides biolink:ChemicalSubstance mondo Any steroid lactone that is a C23 steroid with a five-membered lactone ring at C-17 and its substituted derivatives. They form the aglycone constituents of cardiac glycosides. http://purl.obolibrary.org/obo/CHEBI_74634 MONDO:0003830 type 1 papillary adenoma of the kidney biolink:Disease mondo UMLS:C1519706|NCIT:C39809|DOID:6258 NCIT:C39809|DOID:6258|UMLS:C1519706 http://purl.obolibrary.org/obo/MONDO_0003830 type 1 renal papillary adenoma|type 1 papillary adenoma of the kidney MONDO:0003831 type 2 papillary adenoma of the kidney biolink:Disease mondo NCIT:C39810|UMLS:C1519710|DOID:6259 NCIT:C39810|DOID:6259|UMLS:C1519710 http://purl.obolibrary.org/obo/MONDO_0003831 type 2 renal papillary adenoma|type 2 papillary adenoma of the kidney HP:0032245 Abnormal metabolism biolink:PhenotypicFeature mondo An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. http://purl.obolibrary.org/obo/HP_0032245 UBERON:0012430 tunica fibrosa of eyeball biolink:AnatomicalEntity mondo The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. http://purl.obolibrary.org/obo/UBERON_0012430 corneosclera|fibrous tunic|fibrous layer of eyeball|tunica fibrosa UBERON:0036422 wall of pulmonary artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036422 pulmonary arterial wall CL:1000322 pancreatic goblet cell biolink:Cell mondo FMA:263058 A goblet cell that is part of the epithelium of pancreatic duct. http://purl.obolibrary.org/obo/CL_1000322 goblet cell of epithelium of pancreatic duct UBERON:0012425 striated border microvillus layer biolink:AnatomicalEntity mondo A microvillus layer that is striated and found in the intestine. http://purl.obolibrary.org/obo/UBERON_0012425 striated border MONDO:0015803 wound botulism biolink:Disease mondo Orphanet:178475|NCIT:C128342|DOID:0050353|UMLS:C1306794|ICD9:040.42|ICD10:A05.1|SCTID:398530003|ICD10:A48.52 Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. SNOMEDCT:398530003|UMLS:C1306794|ORPHA:178475|DOID:0050353|NCIT:C128342 http://purl.obolibrary.org/obo/MONDO_0015803 skin infectious botulism|skin toxin-mediated botulism|cutaneous infectious botulism|cutaneous toxin-mediated botulism|inoculation botulism ordo_etiological_subtype MONDO:0015802 autosomal dominant non-syndromic intellectual disability biolink:Disease mondo Orphanet:178469|DOID:0060307|GARD:0012107|UMLS:CN200399 Autosomal dominant form of non-syndromic intellectual disability. DOID:0060307|ORPHA:178469|UMLS:CN200399 http://purl.obolibrary.org/obo/MONDO_0015802 autosomal dominant mental retardation|non-syndromic intellectual disability, autosomal dominant|autosomal dominant non-syndromic mental retardation|autosomal dominant non-syndromic intellectual disability gard_rare MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation biolink:Disease mondo UMLS:CN200394|Orphanet:178396 ORPHA:178396|UMLS:CN200394 http://purl.obolibrary.org/obo/MONDO_0015801 ordo_disease UBERON:0012429 hematopoietic tissue biolink:AnatomicalEntity mondo Blood-forming tissue, consisting of reticular fibers and cells. http://purl.obolibrary.org/obo/UBERON_0012429 hematopoietic tissue|textus haemopoieticus|bone marrow tissue|hemopoietic tissue|haemopoietic tissue MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome biolink:Disease mondo ICD10:Q75.8|UMLS:CN200391|SCTID:722117000|Orphanet:178377 This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. SNOMEDCT:722117000|ORPHA:178377|UMLS:CN200391 http://purl.obolibrary.org/obo/MONDO_0015800 ordo_malformation_syndrome MONDO:0003829 chromophil adenoma of the kidney biolink:Disease mondo DOID:6257|UMLS:C1518879|NCIT:C3687 A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. UMLS:C1518879|NCIT:C3687|DOID:6257 http://purl.obolibrary.org/obo/MONDO_0003829 papillary adenoma of the kidney|renal papillary adenoma|chromophil adenoma of the kidney UBERON:0000454 cerebral subcortex biolink:AnatomicalEntity mondo The layer located below the cerebral cortex that includes the forebrain, midbrain and hindbrain. http://purl.obolibrary.org/obo/UBERON_0000454 cerebral medulla|subcortex UBERON:0000456 secretion of exocrine gland biolink:AnatomicalEntity mondo A portion of organism substance that is produced by exocrine glands. http://purl.obolibrary.org/obo/UBERON_0000456 bodily secretion|exocrine gland fluid or secretion|secreted substance|external secretion|secretion|exocrine gland fluid|exocrine gland secretion|exocrine gland fluid/secretion HGNC:9990 RGR biolink:OntologyClass mondo http://identifiers.org/hgnc/9990 MONDO:0003825 kidney oncocytoma biolink:Disease mondo SCTID:254922006|ONCOTREE:ROCY|DOID:6245|MESH:C537750|NCIT:C4526|GARD:0008477|UMLS:C0346255|EFO:1000315 A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions. SNOMEDCT:254922006|NCIT:C4526|UMLS:C0346255|DOID:6245|MESH:C537750 http://purl.obolibrary.org/obo/MONDO_0003825 renal oncocytoma|ROCY|oncocytoma kidney|renal epithelial oncocytic neoplasm|oncocytoma of kidney|oncocytoma of the kidney|kidney oncocytoma|oncocytoma renal|kidney oncocytic neoplasm|renal epithelial oncocytic tumor gard_rare MONDO:0003826 mediastinum seminoma biolink:Disease mondo NCIT:C6812|UMLS:C1334680|DOID:6249 An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors. NCIT:C6812|UMLS:C1334680|DOID:6249 http://purl.obolibrary.org/obo/MONDO_0003826 seminoma of the mediastinum|seminoma of mediastinum|mediastinum seminoma|mediastinal seminoma MONDO:0003827 transient hypogammaglobulinemia biolink:Disease mondo UMLS:C0859960|NCIT:C27319|DOID:625 A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels. NCIT:C27319|UMLS:C0859960|DOID:625 http://purl.obolibrary.org/obo/MONDO_0003827 MONDO:0003828 growth hormone-producing pituitary gland carcinoma biolink:Disease mondo UMLS:C1334587|DOID:6256|NCIT:C5963 A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly. NCIT:C5963|UMLS:C1334587|DOID:6256 http://purl.obolibrary.org/obo/MONDO_0003828 malignant somatotropinoma of pituitary|malignant pituitary somatotropinoma|malignant Growth hormone secreting pituitary neoplasm|malignant Growth hormone producing tumor of the pituitary gland|malignant Growth hormone secreting neoplasm of the pituitary gland|malignant Growth hormone secreting pituitary gland neoplasm|malignant Growth hormone producing tumor of pituitary gland|malignant Growth hormone secreting neoplasm of pituitary gland|malignant Growth hormone producing tumor of the pituitary|malignant Growth hormone secreting neoplasm of the pituitary|malignant Growth hormone secreting pituitary gland tumor|malignant Growth hormone producing tumor of pituitary|malignant Growth hormone secreting neoplasm of pituitary|malignant Growth hormone secreting tumor of the pituitary gland|malignant Growth hormone secreting pituitary tumor|malignant Growth hormone producing neoplasm of the pituitary gland|Growth hormone-producing pituitary gland carcinoma|malignant Growth hormone secreting tumor of pituitary gland|malignant Growth hormone producing neoplasm of pituitary gland|malignant pituitary Somatotrophinoma|malignant Growth hormone secreting tumor of the pituitary|malignant Growth hormone producing neoplasm of the pituitary|malignant Growth hormone producing pituitary gland tumor|malignant somatotropinoma|malignant Growth hormone secreting tumor of pituitary|malignant Somatotrophinoma of the pituitary gland|malignant pituitary gland Somatotrophinoma|Growth hormone producing pituitary gland carcinoma|malignant Growth hormone producing neoplasm of pituitary|malignant Growth hormone producing pituitary tumor|malignant Somatotrophinoma of pituitary gland|malignant Growth hormone producing pituitary neoplasm|malignant somatotropinoma of the pituitary gland|malignant somatotropinoma of pituitary gland|malignant Growth hormone producing pituitary gland neoplasm|malignant Somatotrophinoma of pituitary|malignant Growth hormone producing tumor|malignant somatotropinoma of the pituitary|malignant pituitary gland somatotropinoma NCBITaxon:35268 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_35268 UBERON:0000439 arachnoid trabecula biolink:AnatomicalEntity mondo The arachnoid trabeculae are delicate strands of connective tissue that loosely connect the two innermost layers of the meninges -- the arachnoid mater and the pia mater. They are found within the subarachnoid space where cerebrospinal fluid is also found. Embryologically, the trabeculae are the remnants of the common precursor that forms both the arachnoid and pial layers of the meninges. http://purl.obolibrary.org/obo/UBERON_0000439 trabecula arachnoideum|arachnoid trabeculae CHEBI:23014 carbon oxide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23014 oxides of carbon|carbon oxides MONDO:0003800 conventional malignant hemangiopericytoma biolink:Disease mondo NCIT:C9425|DOID:6197|UMLS:C1333158 A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity. UMLS:C1333158|DOID:6197|NCIT:C9425 http://purl.obolibrary.org/obo/MONDO_0003800 conventional malignant hemangiopericytoma ENVO:00002982 clay biolink:OntologyClass mondo A group of hydrous aluminium phyllosilicate (phyllosilicates being a subgroup of silicate minerals) minerals (see clay minerals), that are typically less than 2 micrometres in diameter. Clay consists of a variety of phyllosilicate minerals rich in silicon and aluminium oxides and hydroxides which include variable amounts of structural water. http://purl.obolibrary.org/obo/ENVO_00002982 MONDO:0003801 corneal intraepithelial neoplasm biolink:Disease mondo SCTID:420835009|DOID:6198|NCIT:C6093|UMLS:C1333159 A squamous cell intraepithelial neoplasia that involves the cornea. NCIT:C6093|UMLS:C1333159|DOID:6198|SNOMEDCT:420835009 http://purl.obolibrary.org/obo/MONDO_0003801 cornea intraepithelial neoplasia|intraepithelial neoplasia of cornea|intraepithelial neoplasia of the cornea|cornea squamous cell intraepithelial neoplasia|corneal intraepithelial neoplasia CHEBI:50630 cyclooxygenase 1 inhibitor biolink:ChemicalSubstance mondo A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 1. http://purl.obolibrary.org/obo/CHEBI_50630 COX-1 inhibitor|COX-1 inhibitors|PTGS1 inhibitors|prostaglandin H2 synthase 1 inhibitors|cyclooxygenase 1 inhibitors|prostaglandin G/H synthase 1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitors|cyclo-oxygenase 1 inhibitors|cyclooxygenase-1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitor|cyclooxygenase-1 inhibitor|cyclo-oxygenase 1 inhibitor|prostaglandin G/H synthase 1 inhibitor|prostaglandin H2 synthase 1 inhibitor|PTGS1 inhibitor MONDO:0003802 cornea cancer biolink:Disease mondo UMLS:C0153629|ICD10:C69.1|ICD9:190.4|DOID:6199|COHD:375490|NCIT:C3565|SCTID:363464006 A malignant neoplasm involving the cornea. SNOMEDCT:363464006|UMLS:C0153629|NCIT:C3565|DOID:6199 http://purl.obolibrary.org/obo/MONDO_0003802 cornea cancer|corneal tumor|malignant neoplasm of cornea|malignant cornea neoplasm|malignant cornea tumor|malignant neoplasm of the cornea|malignant corneal neoplasm|malignant neoplasm of cornea (primary)|malignant corneal tumor|cancer of cornea|malignant tumor of cornea|neoplasm of cornea|malignant tumor of the cornea CHEBI:23018 EC 4.2.1.1 (carbonic anhydrase) inhibitor biolink:ChemicalSubstance mondo An EC 4.2.1.* (hydro-lyases) inhibitor that interferes with the action of carbonic anhydrase (EC 4.2.1.1). Such compounds reduce the secretion of H(+) ions by the proximal kidney tubule. http://purl.obolibrary.org/obo/CHEBI_23018 carbonate dehydratase inhibitors|carboxyanhydrase inhibitors|carbonate hydro-lyase (carbon-dioxide-forming) inhibitors|anhydrase inhibitors|EC 4.2.1.1 (carbonic anhydrase) inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitor|anhydrase inhibitor|carbonate hydro-lyase (carbon-dioxide-forming) inhibitor|carbonate dehydratase inhibitor|carboxyanhydrase inhibitor|carbonate anhydrase inhibitors|EC 4.2.1.1 inhibitors|carbonic acid anhydrase inhibitors|carbonic anhydrase inhibitors|carbonate hydro-lyase inhibitors|carbonic anhydrase A inhibitors|carbonic anhydrase A inhibitor|carbonate hydro-lyase inhibitor|carbonic anhydrase inhibitor|carbonic acid anhydrase inhibitor|EC 4.2.1.1 inhibitor|carbonate anhydrase inhibitor CHEBI:23019 carbonyl group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23019 carbonyl group|>C=O|carbonyl NCBITaxon:59263 Toxascaris organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_59263 CHEBI:50634 acetazolamide(1-) biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50634 acetazolamide|[(5-acetamido-1,3,4-thiadiazol-2-yl)sulfonyl]azanide HP:0032251 Abnormal immune system morphology biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0032251 UBERON:0012423 layer of microvilli biolink:AnatomicalEntity mondo A layer of microvilli, Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments[GO,modified] http://purl.obolibrary.org/obo/UBERON_0012423 microvillus|microvilli UBERON:0012416 respiratory system arterial smooth muscle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012416 CHEBI:60004 mixture biolink:ChemicalSubstance mondo A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind. http://purl.obolibrary.org/obo/CHEBI_60004 Mischung UBERON:0012418 respiratory system venous smooth muscle biolink:AnatomicalEntity mondo A smooth muscle tissue that is part of a respiratory system venous blood vessel. http://purl.obolibrary.org/obo/UBERON_0012418 UBERON:0000442 right testicular vein biolink:AnatomicalEntity mondo A vein that drains the left pampiniform plexus and empties into the left renal vein. http://purl.obolibrary.org/obo/UBERON_0000442 right spermatic vein|vena testicularis sinistra|vena testicularis (adrenalis) dextra|vena testicularis dextra UBERON:0000443 left testicular vein biolink:AnatomicalEntity mondo A vein that drains the right pampiniform plexus and empties into the inferior vena cava. http://purl.obolibrary.org/obo/UBERON_0000443 vena testicularis sinistra|left spermatic vein|vena testicularis dextra UBERON:0000440 trabecula biolink:AnatomicalEntity mondo A small, often microscopic, tissue element in the form of a small beam, strut or rod, generally having a mechanical function, and usually but not necessarily composed of dense collagenous tissue. On histological section, a trabecula can look like a septum, but in three dimensions they are topologically distinct, with trabeculae being roughly rod or pillar-shaped and septa being sheet-like. Trabeculae are usually composed of dense fibrous tissue, i.e. mainly of collagen, and in most cases provide mechanical strengthening or stiffening to a soft solid organ, such as the spleen. They can be composed of other materials, such as bone or muscle[WP]. http://purl.obolibrary.org/obo/UBERON_0000440 NCBITaxon:11286 Lyssavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11286 UBERON:0000428 prostate epithelium biolink:AnatomicalEntity mondo The prostate epithelium. http://purl.obolibrary.org/obo/UBERON_0000428 prostate gland epithelial tissue|prostate epithelial tissue|prostatic epithelium|epithelium of prostatic gland|prostatic gland epithelium|epithelial tissue of prostate gland|epithelial tissue of prostate|epithelium of prostate gland|epithelium of prostate|prostate gland epithelium HP:0020219 Motor seizure biolink:PhenotypicFeature mondo A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. http://purl.obolibrary.org/obo/HP_0020219 MONDO:0003810 bladder diffuse clear cell adenocarcinoma biolink:Disease mondo DOID:6210|UMLS:C1511187|NCIT:C39849 A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern. NCIT:C39849|DOID:6210|UMLS:C1511187 http://purl.obolibrary.org/obo/MONDO_0003810 bladder diffuse clear cell adenocarcinoma MONDO:0003811 ovarian seromucinous tumor biolink:Disease mondo NCIT:C4508|DOID:6211|SCTID:254855000|EFO:1000425|UMLS:C0346166 A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous. SNOMEDCT:254855000|NCIT:C4508|UMLS:C0346166|DOID:6211 http://purl.obolibrary.org/obo/MONDO_0003811 ovarian Seromucinous tumor|mixed epithelial tumor of the ovary|ovarian mixed epithelial tumor|mixed epithelial tumor of ovary|ovarian mixed epithelial neoplasm|mixed epithelial neoplasm of the ovary|mixed epithelial neoplasm of ovary MONDO:0003812 ovarian endometrial cancer biolink:Disease mondo DOID:6212|UMLS:C1518231|NCIT:C40051 A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. UMLS:C1518231|NCIT:C40051|DOID:6212 http://purl.obolibrary.org/obo/MONDO_0003812 endometrioid tumor of ovary|ovarian endometrioid neoplasm|ovary female reproductive endometrioid cancer|ovary endometrioid tumor|malignant ovarian endometrioid tumor|endometrioid neoplasm of ovary MONDO:0003813 ovarian papillary tumor biolink:Disease mondo NCIT:C8430|DOID:6214|UMLS:C0476121 A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma. DOID:6214|UMLS:C0476121|NCIT:C8430 http://purl.obolibrary.org/obo/MONDO_0003813 papillary neoplasm of ovary|ovarian papillary tumor (morphologic abnormality)|papillary tumor of the ovary|ovarian papillary neoplasm|ovarian papillary tumor|papillary tumor of ovary|ovarian papillary tumour|papillary neoplasm of the ovary CHEBI:49637 hydrogen atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_49637 hydrogen|hydrogen|hidrogeno|H|Wasserstoff|1H|hydrogene UBERON:0036441 wall of uterine tube biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036441 wall of oviduct|wall of fallopian tube|uterine tube wall CHEBI:50629 cyclooxygenase 2 inhibitor biolink:ChemicalSubstance mondo A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2. http://purl.obolibrary.org/obo/CHEBI_50629 cyclo-oxygenase-2 inhibitors|COX-2 inhibitor|prostaglandin H synthase-2 inhibitor|prostaglandin H synthase-2 inhibitors|COX-2 inhibitors|cyclo-oxygenase-2 inhibitor|cyclooxygenase 2 inhibitors|cyclo-oxygenase 2 inhibitor|prostaglandin-endoperoxide synthase 2 inhibitor|PGHS-2 inhibitors|cyclooxygenase-2 inhibitor|prostaglandin-endoperoxide synthase 2 inhibitors|cyclo-oxygenase 2 inhibitors|PGHS-2 inhibitor|cyclooxygenase-2 inhibitors HP:0010892 Abnormal circulating branched chain amino acid concentration biolink:PhenotypicFeature mondo UMLS:C4023673 Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. http://purl.obolibrary.org/obo/HP_0010892 HP:0032263 Increased blood pressure biolink:PhenotypicFeature mondo Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. http://purl.obolibrary.org/obo/HP_0032263 Increased BP ENVO:00000339 piece of rock biolink:OntologyClass mondo An abiotic mesoscopic feature made of the mineral material of the crust of the Earth. http://purl.obolibrary.org/obo/ENVO_00000339 MONDO:0003807 obsolete follicular thyroid adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003807 MONDO:0003808 mediastinal extraskeletal osteosarcoma biolink:Disease mondo DOID:6208|NCIT:C6615|UMLS:C1334675 An osteosarcoma arising from the mediastinum. NCIT:C6615|UMLS:C1334675|DOID:6208 http://purl.obolibrary.org/obo/MONDO_0003808 mediastinum osteosarcoma (disease)|mediastinal extraskeletal osteosarcoma|osteogenic sarcoma of the mediastinum|mediastinal osteosarcoma|osteogenic sarcoma of mediastinum|osteosarcoma of mediastinum|osteosarcoma of the mediastinum|mediastinal osteogenic sarcoma MONDO:0003809 malignant mediastinum hemangiopericytoma biolink:Disease mondo NCIT:C6608|DOID:6209|UMLS:C1334598 A malignant hemangiopericytoma arising in the mediastinum. NCIT:C6608|UMLS:C1334598|DOID:6209 http://purl.obolibrary.org/obo/MONDO_0003809 mediastinum hemangiopericytoma|malignant mediastinal hemangiopericytoma|malignant hemangiopericytoma of mediastinum|malignant hemangiopericytoma of the mediastinum|mediastinum spindle cell tumor NCBITaxon:11292 Rabies lyssavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11292 Rabies virus MONDO:0003803 aortic valve disease biolink:Disease mondo ICD9:424.1|NCIT:C78650|UMLS:C1260873|DOID:62|ICD9:395 A disease involving the aortic valve. DOID:62|UMLS:C1260873|NCIT:C78650 http://purl.obolibrary.org/obo/MONDO_0003803 disorder of aortic valve|aortic valve disorder|disease of aortic valve|disease or disorder of aortic valve|disorder of aortic valve|aortic valve disease|aortic valve disease or disorder MONDO:0003804 blood protein disease biolink:Disease mondo DOID:620|MESH:D001796|UMLS:C0005830 MESH:D001796|DOID:620|UMLS:C0005830 http://purl.obolibrary.org/obo/MONDO_0003804 blood protein disorder|Protein disorder, blood|disorder, blood Protein|disorders, blood Protein|blood Protein disorder|Protein disorders, blood MONDO:0003805 malignant pericardial mesothelioma biolink:Disease mondo UMLS:C0346110|HP:0100004|DOID:6201|UMLS:C1335381|ICD10:C45.2|NCIT:C7631|SCTID:109383000 A rare neoplasm of mesothelial origin that arises from the pericardium. SNOMEDCT:109383000|NCIT:C7631|UMLS:C0346110|UMLS:C1335381|DOID:6201 http://purl.obolibrary.org/obo/MONDO_0003805 malignant mesothelioma of the pericardium|pericardium malignant mesothelioma (disease)|pericardial malignant mesothelioma|malignant mesothelioma (disease) of pericardium|pericardial mesothelioma|pericardium mesothelioma|malignant pericardial mesothelioma|malignant mesothelioma of pericardium MONDO:0003806 thyroid hyalinizing trabecular adenoma biolink:Disease mondo DOID:6203|ONCOTREE:HTAT|NCIT:C6846|ICDO:8336/0|EFO:1000588|UMLS:C1336751 A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course. NCIT:C6846|UMLS:C1336751|DOID:6203 http://purl.obolibrary.org/obo/MONDO_0003806 PLAT|hyalinizing trabecular adenoma of the thyroid|paraganglioma-like adenoma|hyalinizing trabecular adenoma of thyroid|thyroid gland hyalinizing trabecular tumor|hyalinizing trabecular tumor|HTAT|thyroid hyalinizing trabecular adenoma MONDO:0001202 prostatic cyst biolink:Disease mondo SCTID:409658007|DOID:11133|COHD:201617|ICD10:N42.83|UMLS:C1443972|ICD9:599.89|ICD9:600.3 UMLS:C1443972|DOID:11133|SNOMEDCT:409658007 http://purl.obolibrary.org/obo/MONDO_0001202 cyst of prostate MONDO:0003865 acral lentiginous melanoma (disease) biolink:Disease mondo ICDO:8744/3|SCTID:254732008|HP:0012060|GARD:0009570|NCIT:C4022|UMLS:C0346037|DOID:6367|ONCOTREE:ACRM A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells. DOID:6367|SNOMEDCT:254732008|NCIT:C4022|UMLS:C0346037 http://purl.obolibrary.org/obo/MONDO_0003865 subungual melanoma|acral melanoma|acral lentiginous melanoma|acral lentiginous melanoma, malignant (morphologic abnormality)|acral lentiginous melanoma, malignant|ALM|malignant acral lentiginous melanoma|acral lentiginous malignant melanoma|acral lentiginous malignant melanoma of skin|palmar/plantar melanoma MONDO:0003866 liver extraskeletal osteosarcoma biolink:Disease mondo UMLS:C1333974|DOID:6370|NCIT:C5833 An osteosarcoma arising from the liver. DOID:6370|UMLS:C1333974|NCIT:C5833 http://purl.obolibrary.org/obo/MONDO_0003866 liver osteogenic sarcoma|liver extraskeletal osteosarcoma|osteogenic sarcoma of the liver|hepatic osteosarcoma|osteogenic sarcoma of liver|liver osteosarcoma (disease)|osteosarcoma of liver|liver osteosarcoma|hepatic osteogenic sarcoma|osteosarcoma of the liver|hepatic extraskeletal osteosarcoma MONDO:0001201 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001201 MONDO:0001200 secondary hypertension biolink:Disease mondo ICD9:405|ICD10:I15|UMLS:C0155616|DOID:11130|SCTID:31992008|ICD9:405.9|ICD10:I15.9|EFO:1002034|COHD:319826|ICD9:405.99 High blood pressure caused by an underlying medical condition. NCIT:C3657|SNOMEDCT:31992008|UMLS:C0155616|DOID:11130 http://purl.obolibrary.org/obo/MONDO_0001200 MONDO:0003867 diffuse meningeal melanocytosis biolink:Disease mondo EFO:1000216|UMLS:C1266112|NCIT:C6890|DOID:6379|ICDO:8728/0 A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO) DOID:6379|UMLS:C1266112|NCIT:C6890 http://purl.obolibrary.org/obo/MONDO_0003867 diffuse melanocytosis (morphologic abnormality)|meningeal melanocytosis|diffuse melanocytosis|diffuse melanosis MONDO:0003868 anterior foramen magnum meningioma biolink:Disease mondo DOID:6381|UMLS:C1332302|NCIT:C5281 A meningioma that affects the anterior foramen magnum. DOID:6381|UMLS:C1332302|NCIT:C5281 http://purl.obolibrary.org/obo/MONDO_0003868 meningioma of the anterior Foramen magnum|meningioma of anterior Foramen magnum MONDO:0003861 vulvar eccrine adenocarcinoma biolink:Disease mondo UMLS:C2202743|DOID:6339|NCIT:C40305 An eccrine adenocarcinoma that arises from the sweat glands in the vulva. DOID:6339|NCIT:C40305|UMLS:C2202743 http://purl.obolibrary.org/obo/MONDO_0003861 eccrine carcinoma of mammalian vulva|mammalian vulva eccrine carcinoma|vulvar eccrine adenocarcinoma MONDO:0001206 aqueous misdirection biolink:Disease mondo ICD10:H40.83|ICD9:365.83|DOID:11149 DOID:11149 http://purl.obolibrary.org/obo/MONDO_0001206 UBERON:0012482 submucosa of cloaca biolink:AnatomicalEntity mondo A submucosa that is part of a cloaca [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0012482 cloaca submucosa|cloacal submucosa MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor biolink:Disease mondo DOID:6344|UMLS:C1513101|NCIT:C6910 A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies. DOID:6344|UMLS:C1513101|NCIT:C6910 http://purl.obolibrary.org/obo/MONDO_0003862 melanotic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous MPNST MONDO:0001205 hypersecretion glaucoma biolink:Disease mondo ICD10:H40.82|ICD9:365.81|UMLS:C0154968|SCTID:29369005|DOID:11148 UMLS:C0154968|SNOMEDCT:29369005|DOID:11148 http://purl.obolibrary.org/obo/MONDO_0001205 UBERON:0012481 cloacal epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a cloaca. http://purl.obolibrary.org/obo/UBERON_0012481 cloacal endoderm MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath biolink:Disease mondo UMLS:C0474847|DOID:6345|NCIT:C4748|SCTID:404039004|ICD9:171.9 A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin. DOID:6345|SNOMEDCT:404039004|UMLS:C0474847|NCIT:C4748 http://purl.obolibrary.org/obo/MONDO_0003863 melanocytic MPNST|melanotic malignant peripheral nerve sheath tumour|melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant melanotic peripheral nerve sheath tumor|melanotic malignant peripheral nerve sheath tumor|melanotic malignant nerve sheath tumor|malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanocytic neoplasm of peripheral nerve sheath|malignant melanocytic peripheral nerve sheath tumor MONDO:0001204 esophagus sarcoma biolink:Disease mondo NCIT:C5341|DOID:1114|UMLS:C1333466 A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma. UMLS:C1333466|DOID:1114|NCIT:C5341 http://purl.obolibrary.org/obo/MONDO_0001204 esophagus sarcoma|sarcoma, esophagus|esophageal sarcoma|sarcoma of esophagus|sarcoma of the esophagus UBERON:0012480 cloacal mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a cloaca [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0012480 cloaca mucous membrane|cloaca mucosa|cloaca organ mucosa|mucosa of organ of cloaca|cloacal mucous membrane|mucosa of cloaca|organ mucosa of cloaca|mucous membrane of cloaca|cloaca mucosa of organ MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma biolink:Disease mondo NCIT:C27911|UMLS:C1302547|ICDO:9823/3|ONCOTREE:CLLSLL|DOID:6354 An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood. DOID:6354|UMLS:C1302547|NCIT:C27911 http://purl.obolibrary.org/obo/MONDO_0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)|CLL/SLL|chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0001203 prolapse of lacrimal gland biolink:Disease mondo ICD9:375.16|COHD:379814|UMLS:C0155231|ICD10:H04.16|SCTID:84777002|DOID:11134 UMLS:C0155231|DOID:11134|SNOMEDCT:84777002 http://purl.obolibrary.org/obo/MONDO_0001203 dislocation of lacrimal gland UBERON:0012486 muscle layer of cloaca biolink:AnatomicalEntity mondo A muscular coat that is part of a cloaca. http://purl.obolibrary.org/obo/UBERON_0012486 smooth muscle of cloaca|muscularis externa of cloaca UBERON:0012485 cloacal villus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012485 cloacal villi MONDO:0015849 longitudinal vaginal septum biolink:Disease mondo Orphanet:180157|ICD10:Q52.1|HP:0008740 ORPHA:180157 http://purl.obolibrary.org/obo/MONDO_0015849 ordo_clinical_subtype MONDO:0003860 cerebellopontine angle meningioma biolink:Disease mondo UMLS:C1263882|SCTID:126948004|DOID:6337|NCIT:C5300 A meningioma that affects the cerebellopontine angle. DOID:6337|SNOMEDCT:126948004|NCIT:C5300|UMLS:C1263882 http://purl.obolibrary.org/obo/MONDO_0003860 meningioma of cerebellopontine angle|meningioma of cerebellar Pontine angle|meningioma of the cerebellopontine angle|meningioma of the cerebellar Pontine angle|meningioma (disease) of cerebellopontine angle|cerebellar Pontine angle meningioma|cerebellopontine angle meningioma (disease)|C-P angle meningioma|meningioma of the C-P angle|meningioma of C-P angle MONDO:0015848 septate vagina biolink:Disease mondo COHD:4186281|HP:0001153|ICD9:752.49|Orphanet:180154|ICD10:Q52.1|SCTID:47054003 SNOMEDCT:47054003|UMLS:C0266411|ORPHA:180154 http://purl.obolibrary.org/obo/MONDO_0015848 ordo_morphological_anomaly UBERON:0012483 serosa of cloaca biolink:AnatomicalEntity mondo A serous membrane that is part of a cloaca [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0012483 cloaca serous membrane|visceral peritoneum of cloaca|cloacal serosa|serous membrane of cloaca|cloaca serosa UBERON:0012489 muscle layer of colon biolink:AnatomicalEntity mondo A muscular coat that is part of a colon. http://purl.obolibrary.org/obo/UBERON_0012489 muscularis externa of colon|tunica muscularis coli|colonic muscularis propria|muscular coat of colon|colon muscularis|muscular layer of colon UBERON:0012488 muscle layer of duodenum biolink:AnatomicalEntity mondo A muscular coat that is part of a duodenum. http://purl.obolibrary.org/obo/UBERON_0012488 smooth muscle of duodenum|muscularis propria of duodenum|muscularis externa of duodenum|duodenal muscularis propria UBERON:0012487 vaginal sphincter biolink:AnatomicalEntity mondo A sphincter muscle that is part of a vagina. http://purl.obolibrary.org/obo/UBERON_0012487 sphincter of vagina MONDO:0015854 supernumerary breasts biolink:Disease mondo MedDRA:10049786|ICD10:Q83.1|Orphanet:180182 UMLS:C0266010|MEDDRA:10049786|ORPHA:180182 http://purl.obolibrary.org/obo/MONDO_0015854 accessory breasts|polymastia ordo_morphological_anomaly MONDO:0015853 deficient breast volume or number biolink:Disease mondo Orphanet:180173 ORPHA:180173 http://purl.obolibrary.org/obo/MONDO_0015853 ordo_group_of_disorders MONDO:0015852 excess breast volume or number biolink:Disease mondo Orphanet:180170 ORPHA:180170 http://purl.obolibrary.org/obo/MONDO_0015852 ordo_group_of_disorders MONDO:0015851 rare breast malformation biolink:Disease mondo Orphanet:180163 ORPHA:180163 http://purl.obolibrary.org/obo/MONDO_0015851 ordo_group_of_disorders|obsoletion_candidate MONDO:0015858 rare non-malformative breast disease biolink:Disease mondo UMLS:CN200460|Orphanet:180202 UMLS:CN200460|ORPHA:180202 http://purl.obolibrary.org/obo/MONDO_0015858 obsoletion_candidate|ordo_group_of_disorders MONDO:0015857 rare non-malformative gynecologic or obstetric disease biolink:Disease mondo Orphanet:180199|UMLS:CN200458 ORPHA:180199|UMLS:CN200458 http://purl.obolibrary.org/obo/MONDO_0015857 obsoletion_candidate|ordo_group_of_disorders MONDO:0015856 syndromic breast hypoplasia/aplasia biolink:Disease mondo UMLS:CN226755|Orphanet:180193 UMLS:CN226755|ORPHA:180193 http://purl.obolibrary.org/obo/MONDO_0015856 ordo_group_of_disorders ENVO:00000309 depression biolink:OntologyClass mondo A landform sunken or depressed below the surrounding area. http://purl.obolibrary.org/obo/ENVO_00000309 non tidal basin|barrier basin|pan|pan (geologic)|depression|pans|tidal basin MONDO:0015855 isolated congenital breast hypoplasia/aplasia biolink:Disease mondo Orphanet:180188|ICD10:Q83.0|OMIMPS:113700 ORPHA:180188 http://purl.obolibrary.org/obo/MONDO_0015855 isolated congenital amastia|breasts and/or nipples, aplasia or hypoplasia of ordo_morphological_anomaly NCBITaxon:1350 Enterococcus organism taxon mondo PMID:8427810|PMID:9103648|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1350 NCBITaxon:1351 Enterococcus faecalis organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1351 Streptococcus glycerinaceus|Enterocoque|Micrococcus ovalis|Streptococcus faecalis|Micrococcus zymogenes|Enterococcus proteiformis|Streptococcus liquefaciens MONDO:0015850 transverse vaginal septum biolink:Disease mondo Orphanet:180160|ICD10:Q52.11|HP:0000145|ICD10:Q52.1 ORPHA:180160 http://purl.obolibrary.org/obo/MONDO_0015850 ordo_clinical_subtype MONDO:0003858 anterior optic tract meningioma biolink:Disease mondo NCIT:C7538|UMLS:C1332308|DOID:6334 A meningioma that affects the anterior visual pathway. DOID:6334|UMLS:C1332308|NCIT:C7538 http://purl.obolibrary.org/obo/MONDO_0003858 anterior visual pathway meningioma MONDO:0003859 bilateral meningioma of optic nerve biolink:Disease mondo NCIT:C5304|DOID:6335|UMLS:C1332551 Meningiomas that affects both optic nerves. NCIT:C5304|DOID:6335|UMLS:C1332551 http://purl.obolibrary.org/obo/MONDO_0003859 bilateral optic nerve meningioma|bilateral meningioma of the optic nerve MONDO:0001213 serous glue ear biolink:Disease mondo COHD:381301|ICD10:H65.20|ICD9:381.1|ICD9:381.19|DOID:11181|ICD9:381.10|UMLS:C0155421|ICD10:H65.2|SCTID:81564005 Chronic form of serous otitis media. DOID:11181|UMLS:C0155421|SNOMEDCT:81564005 http://purl.obolibrary.org/obo/MONDO_0001213 chronic secretory otitis media, serous|chronic serous otitis media|serous otitis media, chronic MONDO:0003876 eyelid carcinoma biolink:Disease mondo NCIT:C6078|DOID:6425|UMLS:C0920196 A carcinoma that arises from epithelial cells of the eyelid. DOID:6425|UMLS:C0920196|NCIT:C6078 http://purl.obolibrary.org/obo/MONDO_0003876 carcinoma of eyelid|eyelid carcinoma|carcinoma of the eyelid MONDO:0001212 non-suppurative otitis media biolink:Disease mondo ICD10:H65|UMLS:C0271446|DOID:11180|ICD10:H65.9|ICD10:H65.90|SCTID:275481002|ICD9:381.4|COHD:4170137 A otitis media which involves transudation of fluid in the middle ear without pus formation. UMLS:C0271446|SNOMEDCT:275481002|DOID:11180 http://purl.obolibrary.org/obo/MONDO_0001212 nonsuppurative otitis media CHEBI:23004 carbamoyl group biolink:ChemicalSubstance mondo The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid. http://purl.obolibrary.org/obo/CHEBI_23004 -CONH2|aminocarbonyl|carbamoyl|carbamyl|carbamyl group|-C(O)NH2|carboxamide MONDO:0003877 obsolete cervical adenoid basal carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003877 MONDO:0003878 malignant choroid melanoma biolink:Disease mondo NCIT:C4561|DOID:6438|SCTID:255021005|UMLS:C0346388 A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis. DOID:6438|SNOMEDCT:255021005|NCIT:C4561|UMLS:C0346388 http://purl.obolibrary.org/obo/MONDO_0003878 melanoma of the choroid|optic choroid melanoma|melanoma of choroid|malignant melanoma of the choroid|malignant melanoma of choroid|choroidal melanoma|melanoma (disease) of optic choroid|choroid malignant melanoma|choroid melanoma|optic choroid melanoma (disease) MONDO:0001211 total internal ophthalmoplegia biolink:Disease mondo UMLS:C0152197|ICD9:367.52|SCTID:86266009|DOID:11177 DOID:11177|SNOMEDCT:86266009|UMLS:C0152197 http://purl.obolibrary.org/obo/MONDO_0001211 MONDO:0001210 enophthalmos (disease) biolink:Disease mondo SCTID:80093006|HP:0000490|UMLS:C0014306|ICD9:376.50|MESH:D015841|COHD:436986|ICD10:H05.4|ICD10:H05.40|DOID:11175|ICD9:376.5 Abnormal recession of the eyeball within the eye socket. UMLS:C0014306|MESH:D015841|DOID:11175|SNOMEDCT:80093006|NCIT:C79552 http://purl.obolibrary.org/obo/MONDO_0001210 enophthalmos MONDO:0003879 ovarian endometrioid adenocarcinofibroma biolink:Disease mondo NCIT:C40060|DOID:6445|UMLS:C1518711|ICDO:8381/3 A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma. NCIT:C40060|DOID:6445|UMLS:C1518711 http://purl.obolibrary.org/obo/MONDO_0003879 ovarian endometrioid adenocarcinofibroma|ovarian endometrioid malignant adenofibroma MONDO:0001217 pseudomembranous conjunctivitis biolink:Disease mondo COHD:381568|ICD10:H10.22|UMLS:C0155144|NCIT:C35196|ICD9:372.04|SCTID:72115001|DOID:11190|GARD:0008446 Conjunctivitis that is characterized by formation of a pseudomembrane. NCIT:C35196|SNOMEDCT:72115001|UMLS:C0155144|DOID:11190 http://purl.obolibrary.org/obo/MONDO_0001217 conjunctivitis with pseudomembrane gard_rare MONDO:0003872 ovarian papillary cystadenoma biolink:Disease mondo DOID:6405|NCIT:C7278|UMLS:C1335175 A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts. NCIT:C7278|UMLS:C1335175|DOID:6405 http://purl.obolibrary.org/obo/MONDO_0003872 ovarian papillary cystadenoma MONDO:0003873 ovarian surface papilloma biolink:Disease mondo DOID:6407|UMLS:C1335183|NCIT:C7279 A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary. DOID:6407|NCIT:C7279|UMLS:C1335183 http://purl.obolibrary.org/obo/MONDO_0003873 ovarian surface papilloma MONDO:0001216 pulp degeneration biolink:Disease mondo ICD9:522.2|UMLS:C0034100|COHD:435854|SCTID:22361007|ICD10:K04.2|DOID:11189 Deterioration of the normal pulp tissue. NCIT:C34962|UMLS:C0034100|DOID:11189|SNOMEDCT:22361007 http://purl.obolibrary.org/obo/MONDO_0001216 MONDO:0001215 allescheriosis biolink:Disease mondo DOID:11186|ICD10:B48.2|ICD9:117.6|SCTID:80936003|UMLS:C0153285 A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses. SNOMEDCT:80936003|DOID:11186|UMLS:C0153285 http://purl.obolibrary.org/obo/MONDO_0001215 Petriellidosis MONDO:0003874 ovarian serous surface papillary adenocarcinoma biolink:Disease mondo DOID:6408|NCIT:C6256|UMLS:C1335178 A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern. DOID:6408|NCIT:C6256|UMLS:C1335178 http://purl.obolibrary.org/obo/MONDO_0003874 ovary papillary carcinoma|serous surface papillary carcinoma of ovary|ovarian serous surface papillary adenocarcinoma|serous surface papillary carcinoma of the ovary MONDO:0001214 acute conjunctivitis biolink:Disease mondo DOID:11184|ICD10:H10.02|SCTID:53726008|UMLS:C0155141|NCIT:C35195|ICD9:372.00|COHD:376707|ICD9:372.03 Acute inflammation of the conjunctiva. NCIT:C35195|SNOMEDCT:53726008|UMLS:C0155141|DOID:11184 http://purl.obolibrary.org/obo/MONDO_0001214 acute conjunctivitis (disease)|conjunctivitis (disease), acute MONDO:0003875 childhood central nervous system mature teratoma biolink:Disease mondo UMLS:C1332955|DOID:6423|NCIT:C27404 A mature teratoma that arises from the central nervous system during childhood. DOID:6423|UMLS:C1332955|NCIT:C27404 http://purl.obolibrary.org/obo/MONDO_0003875 childhood central nervous system mature teratoma|pediatric central nervous system mature teratoma|central nervous system mature teratoma of childhood|pediatric central nervous system mature teratoma UBERON:0012475 skeleton of pectoral complex biolink:AnatomicalEntity mondo The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. http://purl.obolibrary.org/obo/UBERON_0012475 skeleton of anterior limb/fin and girdle|upper limb skeleton|set of bones of upper limb|pectoral complex skeleton|ossa membri superioris|bones of upper limb MONDO:0015839 septate uterus biolink:Disease mondo ICD10:Q51.2|Orphanet:180122|MedDRA:10062606|SCTID:22504001 UMLS:C0152240|ORPHA:180122|SNOMEDCT:22504001|MEDDRA:10062606 http://purl.obolibrary.org/obo/MONDO_0015839 ordo_group_of_disorders MONDO:0015838 cordiform uterus biolink:Disease mondo SCTID:14689000|ICD10:Q51.3|Orphanet:180118 UMLS:C0266397|ORPHA:180118|SNOMEDCT:14689000 http://purl.obolibrary.org/obo/MONDO_0015838 uterus arcuatus|uterus cordiformis ordo_morphological_anomaly MONDO:0003870 childhood brainstem astrocytoma biolink:Disease mondo DOID:6386|NCIT:C6216|UMLS:C1332950 An astrocytoma that arises from the brain stem and occurs during childhood. UMLS:C1332950|NCIT:C6216|DOID:6386 http://purl.obolibrary.org/obo/MONDO_0003870 pediatric brain stem astrocytic neoplasm|pediatric brain stem astrocytic neoplasm|brain stem astrocytic neoplasm of childhood|childhood brain stem astrocytic neoplasm|childhood brain stem astrocytoma|childhood brainstem astrocytoma MONDO:0015837 Unicervical bicornuate uterus biolink:Disease mondo Orphanet:180114|ICD10:Q51.3 ORPHA:180114 http://purl.obolibrary.org/obo/MONDO_0015837 ordo_group_of_disorders MONDO:0003871 obsolete metanephric adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003871 UBERON:0012478 cloacal gland biolink:AnatomicalEntity mondo A gland that is part of a cloaca. http://purl.obolibrary.org/obo/UBERON_0012478 UBERON:0012477 dorsal part of neck biolink:AnatomicalEntity mondo The posterior region of the neck, including the suboccipital region. http://purl.obolibrary.org/obo/UBERON_0012477 hindneck|nape of neck|back of neck|nuchal region|nape|posterior part of neck|regio cervicalis posterior|neck back|posterior cervical region|nucha|posterior neck region UBERON:0012476 skeleton of pelvic complex biolink:AnatomicalEntity mondo The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. http://purl.obolibrary.org/obo/UBERON_0012476 ossa membri inferioris|pelvic complex skeleton|skeleton of posterior limb/fin and girdle|set of bones of lower limb|lower limb skeleton|bones of lower limb MONDO:0015843 uterine hypoplasia biolink:Disease mondo ICD10:Q51.8|Orphanet:180139|MedDRA:10063146 UMLS:C0266399|MEDDRA:10063146|ORPHA:180139 http://purl.obolibrary.org/obo/MONDO_0015843 ordo_morphological_anomaly MONDO:0015842 bicornuate uterus biolink:Disease mondo Orphanet:180134|ICD10:Q51.3|SCTID:31401003|MedDRA:10004550|COHD:4150816 UMLS:C0266387|ORPHA:180134|MEDDRA:10004550|SNOMEDCT:31401003 http://purl.obolibrary.org/obo/MONDO_0015842 ordo_group_of_disorders UBERON:0000490 unilaminar epithelium biolink:AnatomicalEntity mondo Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA] http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelia|simple epithelium MONDO:0015841 partial septate uterus biolink:Disease mondo Orphanet:180129|ICD10:Q51.2|SCTID:5364006 Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated. SNOMEDCT:5364006|ORPHA:180129 http://purl.obolibrary.org/obo/MONDO_0015841 uterus subseptus|subtotal septate uterus ordo_morphological_anomaly UBERON:0012469 external anal region biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012469 MONDO:0015840 complete septate uterus biolink:Disease mondo ICD10:Q51.2|Orphanet:180126 Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent. ORPHA:180126 http://purl.obolibrary.org/obo/MONDO_0015840 total septate uterus ordo_morphological_anomaly MONDO:0015847 rare vaginal malformation biolink:Disease mondo Orphanet:180151|UMLS:CN226752 UMLS:CN226752|ORPHA:180151 http://purl.obolibrary.org/obo/MONDO_0015847 obsoletion_candidate|ordo_group_of_disorders MONDO:0015846 syndromic uterovaginal malformation biolink:Disease mondo UMLS:CN226751|Orphanet:180148 A uterovaginal malformation that is part of a larger syndrome. ORPHA:180148|UMLS:CN226751 http://purl.obolibrary.org/obo/MONDO_0015846 syndrome associated with uterovaginal malformation|syndromic uterovaginal malformation|syndrome associated with uterovaginal malformation ordo_group_of_disorders MONDO:0015845 uterine cervical aplasia and agenesis biolink:Disease mondo Orphanet:180145|ICD10:Q51.5 ORPHA:180145 http://purl.obolibrary.org/obo/MONDO_0015845 ordo_morphological_anomaly MONDO:0015844 agenesis and aplasia of uterine body biolink:Disease mondo Orphanet:180142|ICD10:Q51.0 ORPHA:180142 http://purl.obolibrary.org/obo/MONDO_0015844 ordo_morphological_anomaly HGNC:7372 MSMB biolink:OntologyClass mondo http://identifiers.org/hgnc/7372 MONDO:0001209 common wart biolink:Disease mondo ICD10:B07.8|ICD9:078.10|NCIT:C27087|DOID:11165|UMLS:C0043037|MESH:D014860|ICD9:078.1|ICD10:B07|SCTID:57019003|ICD9:078.19 A wart caused by human papillomavirus. It can appear anywhere on the skin. UMLS:C0043037|MESH:D014860|SNOMEDCT:57019003|NCIT:C27087|DOID:11165 http://purl.obolibrary.org/obo/MONDO_0001209 viral Warts due to papilloma virus|wart|common wart|verruca vulgaris|viral wart|viral Warts MONDO:0001208 acute respiratory failure biolink:Disease mondo COHD:319049|SCTID:65710008|ICD9:518.81|NCIT:C27043|UMLS:C0264490 Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. SNOMEDCT:65710008|UMLS:C0264490|NCIT:C27043 http://purl.obolibrary.org/obo/MONDO_0001208 acute respiratory failure|respiratory failure, acute MONDO:0001207 neonatal respiratory failure biolink:Disease mondo COHD:4317960|SCTID:95619009|DOID:11161|UMLS:C0521648|ICD9:770.84|ICD10:P28.5 UMLS:C0521648|DOID:11161|SNOMEDCT:95619009 http://purl.obolibrary.org/obo/MONDO_0001207 respiratory failure of newborn HGNC:7373 MSN biolink:OntologyClass mondo http://identifiers.org/hgnc/7373 MONDO:0003869 childhood brain stem glioma biolink:Disease mondo DOID:6383|NCIT:C9042|UMLS:C0278600|GARD:0009306 An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life. DOID:6383|NCIT:C9042|UMLS:C0278600 http://purl.obolibrary.org/obo/MONDO_0003869 childhood brain stem glioma|pediatric brain stem glioma|childhood glioma of brain stem|childhood glioma of the brain stem|pediatric brainstem glioma|childhood glioma of the brainstem|childhood glioma of brainstem|brain stem glioma of childhood|brain stem glioma|pediatric glioma of the brainstem|pediatric glioma of brain stem|pediatric glioma of the brain stem|childhood brainstem glioma|pediatric glioma of brainstem|pediatric brain stem glioma gard_rare HGNC:7376 MSR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7376 MONDO:0003843 cerebral hemisphere lipoma biolink:Disease mondo DOID:6291|NCIT:C6220|UMLS:C1332907 A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum. DOID:6291|UMLS:C1332907|NCIT:C6220 http://purl.obolibrary.org/obo/MONDO_0003843 cerebral hemisphere lipoma|lipoma of the cerebral hemisphere|lipoma of cerebral hemisphere MONDO:0003844 central nervous system lipoma biolink:Disease mondo DOID:6293|UMLS:C1332885|NCIT:C5451 A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels. NCIT:C5451|DOID:6293|UMLS:C1332885 http://purl.obolibrary.org/obo/MONDO_0003844 CNS lipoma|lipoma of the CNS|lipoma of central nervous system|lipoma of the central nervous system|central nervous system lipoma|lipoma of CNS MONDO:0003845 corpus callosum lipoma biolink:Disease mondo UMLS:C1333160|DOID:6294|NCIT:C5438 A rare benign adipose tissue neoplasm of the corpus callosum. NCIT:C5438|UMLS:C1333160|DOID:6294 http://purl.obolibrary.org/obo/MONDO_0003845 lipoma of the corpus callosum|corpus callosum lipoma|lipoma of corpus callosum MONDO:0003846 viral esophagitis biolink:Disease mondo SCTID:235603003|DOID:6297|NCIT:C27108|UMLS:C0341110 Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning. DOID:6297|SNOMEDCT:235603003|UMLS:C0341110|NCIT:C27108 http://purl.obolibrary.org/obo/MONDO_0003846 Viruses caused esophagitis (disease)|viral esophagitis|Viruses esophagitis (disease) UBERON:0000479 tissue biolink:AnatomicalEntity mondo Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. http://purl.obolibrary.org/obo/UBERON_0000479 portion of tissue|tissue portion|simple tissue MONDO:0003840 epicardium lipoma biolink:Disease mondo UMLS:C1333411|DOID:6284|NCIT:C6742 A rare benign adipose tissue neoplasm of the epicardium of the heart. DOID:6284|UMLS:C1333411|NCIT:C6742 http://purl.obolibrary.org/obo/MONDO_0003840 lipoma of the epicardium|epicardial lipoma|epicardium lipoma|lipoma of epicardium MONDO:0003841 heart lipoma biolink:Disease mondo DOID:6285|UMLS:C1332849|NCIT:C6741 A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue. DOID:6285|UMLS:C1332849|NCIT:C6741 http://purl.obolibrary.org/obo/MONDO_0003841 Cardiac lipoma|heart lipoma|lipoma of heart|lipoma of the heart HGNC:7381 MST1R biolink:OntologyClass mondo http://identifiers.org/hgnc/7381 MONDO:0003842 childhood cerebellar astrocytic neoplasm biolink:Disease mondo DOID:6286|GARD:0009301|UMLS:C0278594|NCIT:C6286 Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood. DOID:6286|UMLS:C0278594|NCIT:C6286 http://purl.obolibrary.org/obo/MONDO_0003842 cerebellar astrocytoma, childhood|cerebellum juvenile astrocytoma|childhood astrocytoma of cerebellum|childhood cerebellar astrocytoma|childhood astrocytoma of the cerebellum|pediatric astrocytoma of cerebellum|cerebellum childhood astrocytic tumor|pediatric cerebellar astrocytoma|cerebellar astrocytoma|pediatric astrocytoma of the cerebellum|childhood astrocytic tumor of cerebellum MONDO:0015829 non-syndromic uterovaginal malformation biolink:Disease mondo Orphanet:180065 A uterovaginal malformation that is not part of a larger syndrome. ORPHA:180065 http://purl.obolibrary.org/obo/MONDO_0015829 nonsyndromic uterovaginal malformation|isolated uterovaginal malformation|isolated uterovaginal malformation ordo_group_of_disorders UBERON:0012464 cloacal vent biolink:AnatomicalEntity mondo The opening of the cloacal chamber to the outside of the organism. Birds maintain a single cloacal opening throughout their lives. http://purl.obolibrary.org/obo/UBERON_0012464 vent|cloacal opening|cloacal orifice UBERON:0012463 cloacal lumen biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a cloaca. http://purl.obolibrary.org/obo/UBERON_0012463 cloacal chamber|cloaca lumen MONDO:0015828 uterovaginal malformation biolink:Disease mondo Orphanet:180062 ORPHA:180062 http://purl.obolibrary.org/obo/MONDO_0015828 ordo_group_of_disorders MONDO:0015827 distal renal tubular acidosis (disease) biolink:Disease mondo ICD10:N25.8|MedDRA:10045224|SCTID:236461000|Orphanet:18|OMIMPS:179800|GARD:0004667|HP:0008341|ICD9:588.89 Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. SNOMEDCT:236461000|UMLS:C0259810|ORPHA:18|MEDDRA:10045224 http://purl.obolibrary.org/obo/MONDO_0015827 classic RTA|renal tubular acidosis, distal|renal tubular acidosis type 1|distal renal tubular acidosis|dRTA|familial distal primary acidosis ordo_disease MONDO:0015826 autosomal dominant spondylocostal dysostosis biolink:Disease mondo SCTID:716232002|UMLS:C4274761|ICD10:Q76.4|UMLS:CN200437|Orphanet:1797 Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. UMLS:C4274761|SNOMEDCT:716232002|UMLS:CN200437|ORPHA:1797 http://purl.obolibrary.org/obo/MONDO_0015826 autosomal dominant spondylocostal dysplasia|spondylocostal dysostosis, autosomal dominant ordo_malformation_syndrome UBERON:0012468 anal tooth biolink:AnatomicalEntity mondo Triangular calcified papillae (often five) placed radially around the anus of some Holothuriidae http://purl.obolibrary.org/obo/UBERON_0012468 calcified anal papilla|anal teeth|perianal tooth|cloacal tooth UBERON:0012467 enclosed anatomical space biolink:AnatomicalEntity mondo An anatomical space with no opening to another space or to the exterior. http://purl.obolibrary.org/obo/UBERON_0012467 closed anatomical space UBERON:0012466 extraembryonic cavity biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012466 extraembryonic cavities UBERON:0012465 lumen of terminal part of digestive tract biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a terminal part of digestive tract. http://purl.obolibrary.org/obo/UBERON_0012465 MONDO:0015832 true unicornuate uterus biolink:Disease mondo ICD10:Q51.4|Orphanet:180074 True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated. ORPHA:180074 http://purl.obolibrary.org/obo/MONDO_0015832 complete unilateral Mullerian aplasia|complete unilateral aplasia of the Mullerian ducts|unicornuate uterus without rudimentary horn|complete unilateral Müllerian aplasia|complete unilateral aplasia of the Müllerian ducts ordo_morphological_anomaly CL:1000312 bronchial goblet cell biolink:Cell mondo FMA:263032 A goblet cell that is part of the epithelium of bronchus. http://purl.obolibrary.org/obo/CL_1000312 goblet cell of epithelium of bronchus MONDO:0015831 unilateral aplasia of the mullerian ducts biolink:Disease mondo ICD10:Q51.4|Orphanet:180071 ORPHA:180071 http://purl.obolibrary.org/obo/MONDO_0015831 unicornuate uterus|unilateral aplasia of the Müllerian ducts ordo_group_of_disorders MONDO:0015830 partial bilateral aplasia of the mullerian ducts biolink:Disease mondo Orphanet:180068|ICD10:Q51.8 ORPHA:180068 http://purl.obolibrary.org/obo/MONDO_0015830 incomplete bilateral aplasia of the Müllerian ducts|partial bilateral aplasia of the Müllerian ducts|incomplete bilateral aplasia of the Mullerian ducts ordo_group_of_disorders UBERON:0000481 multi-tissue structure biolink:AnatomicalEntity mondo Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structures FOODON:03420279 pollen biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03420279 MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina biolink:Disease mondo ICD10:Q51.1|Orphanet:180111 ORPHA:180111 http://purl.obolibrary.org/obo/MONDO_0015836 ordo_clinical_subtype MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina biolink:Disease mondo ICD10:Q51.1|Orphanet:180106 ORPHA:180106 http://purl.obolibrary.org/obo/MONDO_0015835 ordo_clinical_subtype MONDO:0015834 didelphys uterus biolink:Disease mondo SCTID:15545001|MedDRA:10012770|Orphanet:180086|ICD10:Q51.1|ICD9:752.2 MEDDRA:10012770|UMLS:C0266393|ORPHA:180086|SNOMEDCT:15545001 http://purl.obolibrary.org/obo/MONDO_0015834 Bicervical bicornuate uterus ordo_morphological_anomaly MONDO:0015833 pseudounicornuate uterus biolink:Disease mondo Orphanet:180079|ICD10:Q51.4 Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated. ORPHA:180079 http://purl.obolibrary.org/obo/MONDO_0015833 incomplete unilateral Mullerian aplasia|unicornuate uterus with rudimentary horn|incomplete unilateral Müllerian aplasia|incomplete unilateral aplasia of the Mullerian ducts|incomplete unilateral aplasia of the Müllerian ducts ordo_morphological_anomaly UBERON:0000486 multilaminar epithelium biolink:AnatomicalEntity mondo Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA] http://purl.obolibrary.org/obo/UBERON_0000486 stratified epithelium|laminated epithelium UBERON:0000487 simple squamous epithelium biolink:AnatomicalEntity mondo Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA] http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelia|epithelium simplex squamosum UBERON:0000488 atypical epithelium biolink:AnatomicalEntity mondo Epithelium that consists of epithelial cells not arranged in one ore more layers. http://purl.obolibrary.org/obo/UBERON_0000488 heterogenous epithelium|atypical epithelia UBERON:0000489 cavitated compound organ biolink:AnatomicalEntity mondo Compound organ that contains one or more macroscopic anatomical spaces. http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organs|cavitated organ MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland biolink:Disease mondo UMLS:C1334627|DOID:6274|NCIT:C5965 A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin. NCIT:C5965|DOID:6274|UMLS:C1334627 http://purl.obolibrary.org/obo/MONDO_0003836 malignant thyroid stimulating hormone producing neoplasm of the pituitary gland|malignant thyroid stimulating hormone secreting tumor of pituitary|malignant TSH producing tumor of pituitary|malignant thyroid stimulating hormone producing neoplasm of pituitary gland|malignant thyrotropinoma|malignant thyroid stimulating hormone producing pituitary neoplasm|malignant thyroid stimulating hormone producing neoplasm of the pituitary|malignant TSH secreting tumor of the pituitary gland|malignant thyroid stimulating hormone producing pituitary gland tumor|malignant TSH secreting tumor of pituitary gland|malignant thyroid stimulating hormone producing neoplasm of pituitary|malignant thyroid stimulating hormone producing pituitary tumor|malignant thyroid stimulating hormone producing pituitary gland neoplasm|malignant TSH secreting tumor of the pituitary|malignant TSH secreting tumor of pituitary|malignant TSH secreting neoplasm of the pituitary gland|malignant thyroid stimulating hormone producing tumor|malignant thyrotropinoma of the pituitary gland|malignant TSH secreting neoplasm of pituitary gland|malignant TSH producing pituitary neoplasm|malignant thyroid stimulating hormone secreting pituitary neoplasm|malignant TSH secreting neoplasm of the pituitary|malignant thyrotropinoma of pituitary gland|malignant TSH secreting pituitary gland tumor|malignant thyroid stimulating hormone producing tumor of the pituitary gland|malignant TSH secreting neoplasm of pituitary|malignant thyroid stimulating hormone secreting pituitary gland neoplasm|malignant TSH producing pituitary gland neoplasm|malignant thyrotropinoma of the pituitary|malignant thyroid stimulating hormone producing tumor of pituitary gland|TSH-producing pituitary gland carcinoma|malignant TSH secreting pituitary tumor|malignant thyroid stimulating hormone producing tumor of the pituitary|malignant thyrotropinoma of pituitary|malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland|malignant TSH producing neoplasm of the pituitary gland|malignant thyroid stimulating hormone producing tumor of pituitary|malignant pituitary thyrotropinoma|TSH producing pituitary gland carcinoma|malignant TSH secreting pituitary neoplasm|malignant TSH producing neoplasm of pituitary gland|malignant thyroid stimulating hormone secreting neoplasm of pituitary gland|malignant TSH producing neoplasm of the pituitary|malignant TSH producing tumor of the pituitary gland|malignant pituitary gland thyrotropinoma|malignant thyroid stimulating hormone secreting pituitary gland tumor|malignant thyroid stimulating hormone secreting tumor of the pituitary gland|malignant TSH producing pituitary gland tumor|malignant thyroid stimulating hormone secreting neoplasm of the pituitary|malignant thyroid stimulating hormone secreting tumor of pituitary gland|malignant TSH producing tumor of pituitary gland|malignant TSH producing neoplasm of pituitary|malignant thyroid stimulating hormone secreting neoplasm of pituitary|malignant TSH secreting pituitary gland neoplasm|malignant thyroid stimulating hormone secreting tumor of the pituitary|thyrotropin producing pituitary gland carcinoma|malignant TSH producing tumor of the pituitary|malignant TSH producing pituitary tumor|malignant thyroid stimulating hormone secreting pituitary tumor MONDO:0003837 TSH producing pituitary tumor biolink:Disease mondo NCIT:C7915|DOID:6275|SCTID:254959007|UMLS:C2362538 An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin. NCIT:C7915|SNOMEDCT:254959007|DOID:6275|UMLS:C2362538 http://purl.obolibrary.org/obo/MONDO_0003837 TSH producing neoplasm of the pituitary|thyroid stimulating hormone secreting pituitary gland tumor|thyroid stimulating hormone secreting neoplasm of the pituitary|TSH producing pituitary gland tumor|thyroid stimulating hormone producing tumor of pituitary|TSH producing neoplasm of pituitary|TSH-producing pituitary gland neoplasm|TSH secreting pituitary neoplasm|thyroid stimulating hormone secreting neoplasm of pituitary|TSH producing pituitary tumor|thyroid stimulating hormone secreting tumor of the pituitary gland|TSH secreting tumor of pituitary|TSH producing tumor of the pituitary gland|TSH-oma|thyroid stimulating hormone secreting pituitary tumor|thyroid stimulating hormone secreting tumor of pituitary gland|TSH secreting pituitary gland neoplasm|TSH producing tumor of pituitary gland|thyroid stimulating hormone producing neoplasm of the pituitary gland|thyroid stimulating hormone secreting tumor of the pituitary|TSH producing tumor of the pituitary|thyroid stimulating hormone producing neoplasm of pituitary gland|TSH producing tumor of pituitary|thyroid stimulating hormone producing neoplasm of the pituitary|thyroid stimulating hormone producing pituitary gland tumor|thyroid stimulating hormone secreting tumor of pituitary|thyroid stimulating hormone producing neoplasm of pituitary|thyroid stimulating hormone producing pituitary tumor|thyroid stimulating hormone producing pituitary neoplasm|TSH secreting tumor of the pituitary gland|TSH secreting tumor of pituitary gland|thyroid stimulating hormone producing pituitary gland neoplasm|TSH secreting neoplasm of the pituitary gland|TSH secreting tumor of the pituitary|TSH secreting neoplasm of pituitary gland|TSH secreting adenoma of the pituitary|TSH secreting pituitary gland tumor|TSH secreting neoplasm of the pituitary|thyroid stimulating hormone producing tumour|thyrotropin producing pituitary gland neoplasm|thyrotropin-secreting pituitary adenoma|TSH producing pituitary neoplasm|thyroid stimulating hormone secreting pituitary neoplasm|TSH secreting neoplasm of pituitary|TSH-producing pituitary gland tumor|thyroid stimulating hormone producing tumor of the pituitary gland|TSH secreting pituitary tumor|thyroid stimulating hormone producing tumor of pituitary gland|TSH producing neoplasm of the pituitary gland|TSH producing pituitary gland neoplasm|thyroid stimulating hormone secreting neoplasm of the pituitary gland|thyroid stimulating hormone secreting pituitary gland neoplasm|thyrotroph adenoma|TSH producing neoplasm of pituitary gland|thyroid stimulating hormone producing tumor of the pituitary|thyroid stimulating hormone secreting neoplasm of pituitary gland UBERON:0000483 epithelium biolink:AnatomicalEntity mondo Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. http://purl.obolibrary.org/obo/UBERON_0000483 epithelial tissue|portion of epithelium UBERON:0000484 simple cuboidal epithelium biolink:AnatomicalEntity mondo Unilaminar epithelium that consists of a single layer of cuboidal cells. http://purl.obolibrary.org/obo/UBERON_0000484 epithelium simplex cuboideum|simple cuboidal epithelia MONDO:0003838 obsolete malignant ACTH producing neoplasm of pituitary gland biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003838 UBERON:0000485 simple columnar epithelium biolink:AnatomicalEntity mondo Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA] http://purl.obolibrary.org/obo/UBERON_0000485 columnar epithlium|simple columnar epithelium|simple columnar epithelia|epithelium simplex columnare|columnar epithelium MONDO:0003839 ovarian mucinous adenocarcinofibroma biolink:Disease mondo DOID:6278|ICDO:9015/3|UMLS:C2212014|NCIT:C40034 A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material. NCIT:C40034|DOID:6278|UMLS:C2212014 http://purl.obolibrary.org/obo/MONDO_0003839 ovarian mucinous adenocarcinofibroma|ovarian mucinous malignant adenofibroma MONDO:0003854 obsolete tibial adamantinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003854 MONDO:0003855 obsolete immature teratoma of ovary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003855 MONDO:0003856 adult malignant hemangiopericytoma biolink:Disease mondo NCIT:C7946|UMLS:C0279547|DOID:6332 A malignant hemangiopericytoma occurring in the adult population. DOID:6332|UMLS:C0279547|NCIT:C7946 http://purl.obolibrary.org/obo/MONDO_0003856 hemangiopericytoma, malignant of adults|adult hemangiopericytoma, malignant|malignant adult hemangiopericytoma MONDO:0003857 adult intracranial malignant hemangiopericytoma biolink:Disease mondo NCIT:C9183|UMLS:C1334558|UMLS:C4331858|DOID:6333 A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population. UMLS:C1334558|DOID:6333|NCIT:C9183|UMLS:C4331858 http://purl.obolibrary.org/obo/MONDO_0003857 malignant adult intracranial hemangiopericytoma|adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3|adult malignant intracranial hemangiopericytoma|adult intracranial anaplastic hemangiopericytoma|central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3 MONDO:0003850 clivus chondroid chordoma biolink:Disease mondo UMLS:C1333072|DOID:6313|NCIT:C5426 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage. UMLS:C1333072|DOID:6313|NCIT:C5426 http://purl.obolibrary.org/obo/MONDO_0003850 chondroid chordoma of clivus|clivus of occipital bone chondroid chordoma|chondroid chordoma of the clivus|chondroid chordoma of clivus of occipital bone UBERON:0000468 multicellular organism biolink:AnatomicalEntity mondo Anatomical structure that is an individual member of a species and consists of more than one cell. http://purl.obolibrary.org/obo/UBERON_0000468 Koerper|organism|whole body|whole organism|multi-cellular organism|animal|body ExO:0000001 exposure receptor biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ExO_0000001 MONDO:0003851 ovarian fetiform teratoma biolink:Disease mondo NCIT:C39996|DOID:6314|UMLS:C1518715 A rare type of teratoma that arises from the ovary and resembles a malformed fetus. DOID:6314|UMLS:C1518715|NCIT:C39996 http://purl.obolibrary.org/obo/MONDO_0003851 homunculus|ovarian fetiform teratoma ExO:0000002 exposure event biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ExO_0000002 HGNC:7392 MSX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7392 MONDO:0003852 ovarian solid teratoma biolink:Disease mondo NCIT:C7285|DOID:6315|UMLS:C1335181 A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present. DOID:6315|NCIT:C7285|UMLS:C1335181 http://purl.obolibrary.org/obo/MONDO_0003852 MONDO:0003853 Bartholin gland adenocarcinoma biolink:Disease mondo NCIT:C7719|DOID:6316|UMLS:C0238016 A carcinoma that arises from glandular epithelial cells of the major vestibular gland. UMLS:C0238016|DOID:6316|NCIT:C7719 http://purl.obolibrary.org/obo/MONDO_0003853 major vestibular gland adenocarcinoma|adenocarcinoma of the Bartholin's gland|Bartholin gland adenocarcinoma|adenocarcinoma of Bartholin's gland HGNC:7391 MSX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7391 ExO:0000000 exposure stressor biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ExO_0000000 MONDO:0015818 aggressive primary cutaneous B-cell lymphoma biolink:Disease mondo Orphanet:178554 ORPHA:178554 http://purl.obolibrary.org/obo/MONDO_0015818 ordo_group_of_disorders MONDO:0015817 aggressive primary cutaneous T-cell lymphoma biolink:Disease mondo Orphanet:178551 ORPHA:178551 http://purl.obolibrary.org/obo/MONDO_0015817 ordo_group_of_disorders MONDO:0015816 indolent primary cutaneous T-cell lymphoma biolink:Disease mondo Orphanet:178548 ORPHA:178548 http://purl.obolibrary.org/obo/MONDO_0015816 ordo_group_of_disorders MONDO:0015815 obsolete primary cutaneous diffuse large B-cell lymphoma, leg type biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015815 CHEBI:60056 cocaine(1+) biolink:ChemicalSubstance mondo The conjugate base of cocaine arising from protonation of the tertiary amino group; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_60056 cocaine cation|(1R,2R,3S,5S)-3-(benzoyloxy)-2-(methoxycarbonyl)-8-methyl-8-azoniabicyclo[3.2.1]octane|cocaine MONDO:0015819 indolent primary cutaneous B-cell lymphoma biolink:Disease mondo Orphanet:178557 ORPHA:178557 http://purl.obolibrary.org/obo/MONDO_0015819 ordo_group_of_disorders MONDO:0015821 mycosis fungoides and variants biolink:Disease mondo ICD10:C84.0|Orphanet:178566|UMLS:CN226743 Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course. ORPHA:178566|UMLS:CN226743 http://purl.obolibrary.org/obo/MONDO_0015821 ordo_group_of_disorders CHEBI:37622 carboxamide biolink:ChemicalSubstance mondo An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. http://purl.obolibrary.org/obo/CHEBI_37622 carboxamides|carboxamides|primary carboxamide MONDO:0015820 primary cutaneous B-cell lymphoma biolink:Disease mondo ICD9:202.80|COHD:4294435|Orphanet:178563|SCTID:402881008|UMLS:C1274310 SNOMEDCT:402881008|UMLS:C1274310|ORPHA:178563 http://purl.obolibrary.org/obo/MONDO_0015820 ordo_group_of_disorders MONDO:0015825 obesity due to congenital leptin resistance biolink:Disease mondo ICD10:E66.8|Orphanet:179490 ORPHA:179490 http://purl.obolibrary.org/obo/MONDO_0015825 ordo_group_of_disorders MONDO:0015824 oculomaxillofacial dysostosis biolink:Disease mondo GARD:0004046|MESH:C537736|SCTID:763830009|ICD10:Q75.1|UMLS:C1838348|Orphanet:1794 Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. SNOMEDCT:763830009|ORPHA:1794|MESH:C537736|UMLS:C1838348 http://purl.obolibrary.org/obo/MONDO_0015824 oblique facial clefts|oculomaxillofacial dysplasia with oblique facial clefts|Richieri Costa Gorlin syndrome|Richieri-Costa-Gorlin syndrome gard_rare|ordo_malformation_syndrome MONDO:0015823 primary immunodeficiency due to a defect in adaptive immunity biolink:Disease mondo Orphanet:179006 ORPHA:179006 http://purl.obolibrary.org/obo/MONDO_0015823 ordo_group_of_disorders MONDO:0015822 acquired neutropenia biolink:Disease mondo Orphanet:178996 An instance of neutropenia that is acquired during the lifetime of the individual. ORPHA:178996 http://purl.obolibrary.org/obo/MONDO_0015822 immunologic neutropenia|acquired neutropenia ordo_group_of_disorders UBERON:0000475 organism subdivision biolink:AnatomicalEntity mondo Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. http://purl.obolibrary.org/obo/UBERON_0000475 body region|cardinal body part|anatomic region|body part UBERON:0000476 acellular anatomical structure biolink:AnatomicalEntity mondo Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structures UBERON:0000477 anatomical cluster biolink:AnatomicalEntity mondo Anatomical group that has its parts adjacent to one another. http://purl.obolibrary.org/obo/UBERON_0000477 UBERON:0000478 extraembryonic structure biolink:AnatomicalEntity mondo A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic tissue|extraembryonic structures|extra-embryonic structure MONDO:0003847 Mendelian disease biolink:Disease mondo NCIT:C3101|EFO:0000508|DOID:630|UMLS:C0019247|SCTID:32895009|MESH:D030342|ICD9:799.89 A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. NCIT:C3101|MESH:D030342|DOID:630|UMLS:C0019247|SNOMEDCT:32895009 http://purl.obolibrary.org/obo/MONDO_0003847 hereditary disease|genetic disease|inherited genetic disease|hereditary diseases|molecular disease|genetic disorder|genetic condition|hereditary disease or disorder|genetic disorder|inherited disease|inborn disorder|genetic condition|familial disorder UBERON:0000471 compound organ component biolink:AnatomicalEntity mondo Multi-tissue structure that is part of a compound organ. http://purl.obolibrary.org/obo/UBERON_0000471 compound organ components CL:0002293 epithelial cell of thymus biolink:Cell mondo CALOHA:TS-1040|FMA:72208 An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. http://purl.obolibrary.org/obo/CL_0002293 thymic epithelial cell|epithelial cell of thymus gland|epithelial reticular cell|epithelial reticular cell of thymus MONDO:0003848 ectopic thymus biolink:Disease mondo DOID:6307|UMLS:C1333375|NCIT:C27804 A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution. NCIT:C27804|UMLS:C1333375|DOID:6307 http://purl.obolibrary.org/obo/MONDO_0003848 ectopic thymus MONDO:0003849 clivus chordoma biolink:Disease mondo ICD9:170.0|DOID:6312|SCTID:446939001|UMLS:C1333071|NCIT:C5412 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. NCIT:C5412|UMLS:C1333071|DOID:6312|SNOMEDCT:446939001 http://purl.obolibrary.org/obo/MONDO_0003849 chordoma of the clivus|clivus of occipital bone chordoma (disease)|chordoma (disease) of clivus of occipital bone|chordoma of clivus|clival chordoma UBERON:0000473 testis biolink:AnatomicalEntity mondo A gonad of a male animal. A gonad produces and releases sperm. http://purl.obolibrary.org/obo/UBERON_0000473 gonad of male reproductive system|gonad of male genitalia|orchis|testiculus|testes|male gonad|testicle UBERON:0000474 female reproductive system biolink:AnatomicalEntity mondo The organs and associated structures associated with bearing offspring in a female animal. http://purl.obolibrary.org/obo/UBERON_0000474 female organism genitalia|gynaecological tissue|female genital tract|female reproductive tract|genitalia of female organism|female genitals|reproductive system of female organism|female organism reproductive system|female genital system|systema genitale femininum|female genitalia HGNC:119 ACOX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/119 GO:0001775 cell activation biolink:OntologyClass mondo A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/GO_0001775 GO:0098687 chromosomal region biolink:OntologyClass mondo Any subdivision of a chromosome along its length. http://purl.obolibrary.org/obo/GO_0098687 chromosome region HGNC:118 ACO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/118 NCBITaxon:1385 Bacillales organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1385 Bacillus/Staphylococcus group NCBITaxon:1386 Bacillus organism taxon mondo PMID:8138135|PMID:8863420|PMID:10843090|PMID:23475340|GC_ID:11|PMID:7727277|PMID:11491334|PMID:1742196|PMID:2223602 http://purl.obolibrary.org/obo/NCBITaxon_1386 Bacillus|Bacillus rRNA group 1 GO:0001773 myeloid dendritic cell activation biolink:OntologyClass mondo The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0001773 GO:0060073 micturition biolink:OntologyClass mondo The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. http://purl.obolibrary.org/obo/GO_0060073 urine voiding|urination GO:0060078 regulation of postsynaptic membrane potential biolink:OntologyClass mondo Any process that modulates the potential difference across a post-synaptic membrane. http://purl.obolibrary.org/obo/GO_0060078 regulation of post-synaptic membrane potential GO:0060079 excitatory postsynaptic potential biolink:OntologyClass mondo A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. http://purl.obolibrary.org/obo/GO_0060079 regulation of excitatory post-synaptic membrane potential|regulation of EPSP HGNC:9905 RBM8A biolink:OntologyClass mondo http://identifiers.org/hgnc/9905 NCBITaxon:1392 Bacillus anthracis organism taxon mondo GC_ID:11|PMID:8123566 http://purl.obolibrary.org/obo/NCBITaxon_1392 anthrax bacterium|Bacteridium anthracis|Bacillus cereus var. anthracis|anthrax HGNC:129 ACTA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/129 HGNC:124 ACP5 biolink:OntologyClass mondo http://identifiers.org/hgnc/124 HGNC:123 ACP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/123 HGNC:120 ACOX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/120 HGNC:9912 RBMY1A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9912 HGNC:9910 RBMX biolink:OntologyClass mondo http://identifiers.org/hgnc/9910 NCBITaxon:72294 Campylobacteraceae organism taxon mondo PMID:29034857|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_72294 Campylobacter group NCBITaxon:72293 Helicobacteraceae organism taxon mondo PMID:29034857|GC_ID:11|PMID:16403855 http://purl.obolibrary.org/obo/NCBITaxon_72293 Helicobacter group GO:0098662 inorganic cation transmembrane transport biolink:OntologyClass mondo A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0098662 inorganic cation membrane transport|transmembrane inorganic cation transport GO:0001755 neural crest cell migration biolink:OntologyClass mondo The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. http://purl.obolibrary.org/obo/GO_0001755 GO:0098660 inorganic ion transmembrane transport biolink:OntologyClass mondo The process in which an inorganic ion is transported across a membrane. http://purl.obolibrary.org/obo/GO_0098660 transmembrane inorganic ion transport|inorganic ion membrane transport GO:0098661 inorganic anion transmembrane transport biolink:OntologyClass mondo The process in which an inorganic anion is transported across a membrane. http://purl.obolibrary.org/obo/GO_0098661 inorganic anion membrane transport|transmembrane inorganic anion transport GO:0060090 molecular adaptor activity biolink:OntologyClass mondo The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. http://purl.obolibrary.org/obo/GO_0060090 protein complex scaffold activity|binding, bridging|protein-containing complex scaffold activity GO:0060097 cytoskeletal rearrangement involved in phagocytosis, engulfment biolink:OntologyClass mondo The assembly, arrangement, or disassembly of cytoskeletal structures that is involved in the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. http://purl.obolibrary.org/obo/GO_0060097 GO:0060099 regulation of phagocytosis, engulfment biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. http://purl.obolibrary.org/obo/GO_0060099 HP:0009827 Amelia biolink:PhenotypicFeature mondo MSH:D004480|MEDDRA:10001926|SNOMEDCT_US:62588002|UMLS:C0002447 Congenital absence (aplasia) of one or more limbs. http://purl.obolibrary.org/obo/HP_0009827 hposlim_core HGNC:9922 RBP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/9922 HP:0009826 Limb undergrowth biolink:PhenotypicFeature mondo UMLS:C0239399 Limb shortening because of underdevelopment of one or more bones of the extremities. http://purl.obolibrary.org/obo/HP_0009826 Limb undergrowth|limb shortening|Short limbs|Short limb|Hypoplasia involving bones of the extremities HGNC:9921 RBP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/9921 GO:0001764 neuron migration biolink:OntologyClass mondo The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. http://purl.obolibrary.org/obo/GO_0001764 neuron guidance|neuron chemotaxis|neuronal migration HGNC:105 CNNM4 biolink:OntologyClass mondo http://identifiers.org/hgnc/105 ENVO:21001216 ultraviolet radiation biolink:OntologyClass mondo A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 10 nm and 400 nm. http://purl.obolibrary.org/obo/ENVO_21001216 UV radiation HGNC:103 CNNM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/103 ENVO:21001215 visible spectrum radiation biolink:OntologyClass mondo A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 380 nm and 760 nm. http://purl.obolibrary.org/obo/ENVO_21001215 optical radiation|visible light GO:0060084 synaptic transmission involved in micturition biolink:OntologyClass mondo The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body. http://purl.obolibrary.org/obo/GO_0060084 synaptic transmission involved in urination GO:0060089 molecular transducer activity biolink:OntologyClass mondo A compound molecular function in which an effector function is controlled by one or more regulatory components. http://purl.obolibrary.org/obo/GO_0060089 HGNC:9936 OPN1LW biolink:OntologyClass mondo http://identifiers.org/hgnc/9936 HP:0009830 Peripheral neuropathy biolink:PhenotypicFeature mondo UMLS:C0031117|SNOMEDCT_US:302226006|SNOMEDCT_US:386033004|UMLS:C0442874|SNOMEDCT_US:42658009|MSH:D010523 Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. http://purl.obolibrary.org/obo/HP_0009830 Peripheral nerve damage|Neuropathy|Peripheral neuritis GO:0098679 obsolete regulation of carbohydrate catabolic process by regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate catabloism. http://purl.obolibrary.org/obo/GO_0098679 regulation of carbohydrate catabolism by regulation of transcription from RNA polymerase II promoter UBERON:0000414 mucous gland biolink:AnatomicalEntity mondo A gland in which the principal secretory cells are mucus secreting cells. http://purl.obolibrary.org/obo/UBERON_0000414 mucus-secreting gland|glandula mucosa|muciparous gland|mucus gland|mucous secreting gland UBERON:0000415 artery wall biolink:AnatomicalEntity mondo An anatomical wall that is part of an artery [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000415 wall of artery|arterial wall HP:0010885 Avascular necrosis biolink:PhenotypicFeature mondo SNOMEDCT_US:72756009|SNOMEDCT_US:398199007|SNOMEDCT_US:240196003|UMLS:C0085660|MSH:D010020|UMLS:C0877326|UMLS:C0520474|UMLS:C0029445 A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. http://purl.obolibrary.org/obo/HP_0010885 Death of bone due to decreased blood supply|Aseptic necrosis|Bone infarction|Aseptic bone necrosis|Ischemic bone necrosis|Osteonecrosis|Osteochondronecrosis HP:0010884 Acromelia biolink:PhenotypicFeature mondo UMLS:C4023675 Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. http://purl.obolibrary.org/obo/HP_0010884 hposlim_core HGNC:9944 RDX biolink:OntologyClass mondo http://identifiers.org/hgnc/9944 HGNC:9942 PRPH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9942 HGNC:9949 RECQL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/9949 CHEBI:50691 abortifacient biolink:ChemicalSubstance mondo A chemical substance that interrupts pregnancy after implantation. http://purl.obolibrary.org/obo/CHEBI_50691 abortifacient drug|abortifacient agents|abortifacient agent|abortifacient drugs|abortifacients HP:0009887 Abnormality of hair pigmentation biolink:PhenotypicFeature mondo UMLS:C4024172 An abnormality of hair pigmentation (color). http://purl.obolibrary.org/obo/HP_0009887 Abnormality of hair color|Abnormality of hair pigmentation UBERON:0000423 eccrine sweat gland biolink:AnatomicalEntity mondo A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion. http://purl.obolibrary.org/obo/UBERON_0000423 merocrine sweat gland|glandula sudorifera eccrina|glandula sudorifera merocrina|eccrine gland HGNC:9940 RDH5 biolink:OntologyClass mondo http://identifiers.org/hgnc/9940 UBERON:0000409 serous gland biolink:AnatomicalEntity mondo A gland in which the principal secretory cells are serous secreting cells. http://purl.obolibrary.org/obo/UBERON_0000409 UBERON:0000402 nasal vestibule biolink:AnatomicalEntity mondo The nasal vestibule is the most anterior part of the nasal cavity. It's enclosed by the cartilages of nose and lined by the same epithelium of the skin. The other part of the nasal cavity, which is lined by the respiratory epithelium, is called nasal cavity proper. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0000402 vestibulum nasale|vestibulum nasi|vestibular part of nasal cavity UBERON:0000403 scalp biolink:AnatomicalEntity mondo The outer covering of the calvaria. It is composed of several layers: SKIN; subcutaneous connective tissue; the occipitofrontal muscle which includes the tendonous galea aponeurotica; Loose connective tissue; and the pericranium (the PERIOSTEUM of the SKULL). http://purl.obolibrary.org/obo/UBERON_0000403 scalpus CHEBI:50689 reproductive control drug biolink:ChemicalSubstance mondo A substance used either in the prevention or facilitation of pregnancy. http://purl.obolibrary.org/obo/CHEBI_50689 reproductive control agent|reproductive control drugs HP:0010876 Abnormal circulating protein level biolink:PhenotypicFeature mondo UMLS:C4020764|UMLS:C4023679|UMLS:C4020763 An abnormal level of a circulating protein in the blood. http://purl.obolibrary.org/obo/HP_0010876 Serum protein abnormality|Blood protein disease|Abnormality of circulating protein level HGNC:9957 RELN biolink:OntologyClass mondo http://identifiers.org/hgnc/9957 HGNC:9958 REN biolink:OntologyClass mondo http://identifiers.org/hgnc/9958 CHEBI:50680 methotrexate(1-) biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50680 (2S)-4-carboxy-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)butanoate UBERON:0000410 bronchial mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000410 bronchial trunk mucosa|mucosa of bronchus|tunica mucosa bronchi|bronchi mucosa|bronchial trunk organ mucosa|mucous membrane of bronchus|organ mucosa of bronchus|bronchi organ mucosa|mucous membrane of bronchi|bronchi mucosa of organ|organ mucosa of bronchi|organ mucosa of bronchial trunk|mucosa of bronchi|bronchial trunk mucosa of organ|mucous membrane of bronchial trunk|mucosa of bronchial trunk|bronchus mucosa of organ|mucosa of organ of bronchi|bronchi mucous membrane|bronchial trunk mucous membrane|mucosa of organ of bronchial trunk|bronchus mucous membrane|mucosa of organ of bronchus|bronchus mucosa|bronchus organ mucosa UBERON:0000411 visual cortex biolink:AnatomicalEntity mondo the part of the cerebral cortex responsible for processing visual information. http://purl.obolibrary.org/obo/UBERON_0000411 higher-order visual cortex|visual areas CHEBI:50683 EC 1.5.1.3 (dihydrofolate reductase) inhibitor biolink:ChemicalSubstance mondo An EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of dihydrofolate reductase (EC 1.5.1.3). http://purl.obolibrary.org/obo/CHEBI_50683 dihydrofolate reductase inhibitor|EC 1.5.1.3 (dihydrofolate reductase) inhibitors|dihydrofolate reductase inhibitors|dihydrofolic acid reductase inhibitors|folic reductase inhibitors|NADPH-dihydrofolate reductase inhibitor|dihydrofolate reductase (EC 1.5.1.3) inhibitors|EC 1.5.1.3 inhibitors|folic acid reductase inhibitors|7,8-dihydrofolate reductase inhibitors|dihydrofolic reductase inhibitor|tetrahydrofolate dehydrogenase inhibitors|DHFR inhibitor|tetrahydrofolate dehydrogenase inhibitor|dihydrofolic reductase inhibitors|DHFR inhibitors|folic acid reductase inhibitor|7,8-dihydrofolate reductase inhibitor|EC 1.5.1.3 inhibitor|folic reductase inhibitor|NADPH-dihydrofolate reductase inhibitors|dihydrofolate reductase (EC 1.5.1.3) inhibitor|dihydrofolic acid reductase inhibitor CHEBI:50681 methotrexate(2-) biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50681 methotrexate|(2S)-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)pentanedioate HGNC:9966 REST biolink:OntologyClass mondo http://identifiers.org/hgnc/9966 HGNC:9967 RET biolink:OntologyClass mondo http://identifiers.org/hgnc/9967 HGNC:9965 RERE biolink:OntologyClass mondo http://identifiers.org/hgnc/9965 HP:0010866 Abdominal wall defect biolink:PhenotypicFeature mondo UMLS:C0238577 An incomplete closure of the abdominal wall. http://purl.obolibrary.org/obo/HP_0010866 Abdominal wall defect|Congenital anterior abdominal wall defect HP:0010864 Intellectual disability, severe biolink:PhenotypicFeature mondo SNOMEDCT_US:40700009|UMLS:C0036857 Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. http://purl.obolibrary.org/obo/HP_0010864 Severe mental retardation|Mental retardation, severe|Intellectual disability, severe|Early and severe mental retardation UBERON:0000400 jejunal epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a jejunum. http://purl.obolibrary.org/obo/UBERON_0000400 epithelium of jejunum HGNC:7316 MS4A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7316 HGNC:7315 MS4A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7315 NCBITaxon:72274 Pseudomonadales organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_72274 Pseudomonaceae/Moraxellaceae group|gamma-3 proteobacteria NCBITaxon:72273 Thiotrichales organism taxon mondo PMID:16280474|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_72273 Thiothrix/Francisella group|Thiomicrospira group GO:0050664 oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces an oxygen molecule. http://purl.obolibrary.org/obo/GO_0050664 oxidoreductase activity, acting on NADH or NADPH, oxygen as acceptor GO:0050668 positive regulation of homocysteine metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. http://purl.obolibrary.org/obo/GO_0050668 upregulation of homocysteine metabolic process|positive regulation of Hcy metabolic process|stimulation of homocysteine metabolic process|up regulation of homocysteine metabolic process|positive regulation of Hcy metabolism|positive regulation of homocysteine metabolism|activation of homocysteine metabolic process|up-regulation of homocysteine metabolic process GO:0050669 negative regulation of homocysteine metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. http://purl.obolibrary.org/obo/GO_0050669 negative regulation of homocysteine metabolism|down regulation of homocysteine metabolic process|inhibition of homocysteine metabolic process|down-regulation of homocysteine metabolic process|negative regulation of Hcy metabolism|negative regulation of Hcy metabolic process|downregulation of homocysteine metabolic process GO:0050666 regulation of homocysteine metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. http://purl.obolibrary.org/obo/GO_0050666 regulation of Hcy metabolic process|regulation of Hcy metabolism|regulation of homocysteine metabolism GO:0050667 homocysteine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolism|Hcy metabolism|Hcy metabolic process MONDO:0025293 poult enteritis mortality syndrome biolink:Disease mondo MESH:D031261|UMLS:C1135821 An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections. MESH:D031261|UMLS:C1135821 http://purl.obolibrary.org/obo/MONDO_0025293 spiking mortality syndrome|mortality syndrome, spiking MONDO:0025294 tick-borne infectious disease biolink:Disease mondo MESH:D017282 Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic. MESH:D017282 http://purl.obolibrary.org/obo/MONDO_0025294 infections, Tick-borne|Tick-borne infection|Tick borne diseases|infections, Tick borne|disease, Tick-borne|Tick-borne disease|diseases, Tick-borne|Tick borne infections|Tick-borne infections|infection, Tick-borne HGNC:195 ADAM17 biolink:OntologyClass mondo http://identifiers.org/hgnc/195 CL:0002303 pigmented ciliary epithelial cell biolink:Cell mondo FMA:70606 A ciliated epithelial cell of the retina, this cell type uptakes sodium chloride and passes it to non-pigmented ciliary epithelial cells. http://purl.obolibrary.org/obo/CL_0002303 PE GO:0098609 cell-cell adhesion biolink:OntologyClass mondo The attachment of one cell to another cell via adhesion molecules. http://purl.obolibrary.org/obo/GO_0098609 single organismal cell-cell adhesion GO:0050673 epithelial cell proliferation biolink:OntologyClass mondo The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. http://purl.obolibrary.org/obo/GO_0050673 GO:0023035 CD40 signaling pathway biolink:OntologyClass mondo A series of molecular signals initiated by the binding of the cell surface receptor CD40 to one of its physiological ligands, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0023035 CD40 signalling pathway GO:0050679 positive regulation of epithelial cell proliferation biolink:OntologyClass mondo Any process that activates or increases the rate or extent of epithelial cell proliferation. http://purl.obolibrary.org/obo/GO_0050679 up-regulation of epithelial cell proliferation|up regulation of epithelial cell proliferation|activation of epithelial cell proliferation|stimulation of epithelial cell proliferation|upregulation of epithelial cell proliferation GO:0050678 regulation of epithelial cell proliferation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of epithelial cell proliferation. http://purl.obolibrary.org/obo/GO_0050678 CL:0002319 neural cell biolink:Cell mondo FMA:70333|CALOHA:TS-2040 A cell that is part of the nervous system. http://purl.obolibrary.org/obo/CL_0002319 CL:0002312 somatotroph biolink:Cell mondo FMA:83095 An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin. http://purl.obolibrary.org/obo/CL_0002312 somatrophic cell|somatotropic cell|somatotrope MONDO:0013290 agammaglobulinemia 5, autosomal dominant biolink:Disease mondo UMLS:C3150753|OMIM:613506 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene. UMLS:C3150753|http://identifiers.org/omim/613506 http://purl.obolibrary.org/obo/MONDO_0013290 agammaglobulinemia, autosomal dominant, due to Lrrc8A defect|agammaglobulinemia 5, autosomal dominant; AGM5|autosomal agammaglobulinemia caused by mutation in LRRC8A|AGM5|LRRC8A autosomal agammaglobulinemia|agammaglobulinemia 5, autosomal dominant MONDO:0025271 trypanosomiasis, bovine biolink:Disease mondo UMLS:C0041230|MESH:D014354 Infection in cattle caused by various species of trypanosomes. MESH:D014354|UMLS:C0041230 http://purl.obolibrary.org/obo/MONDO_0025271 bovine Trypanosomiases|bovine trypanosomiasis|Trypanosomiases, bovine HGNC:177 ACY1 biolink:OntologyClass mondo http://identifiers.org/hgnc/177 MONDO:0025270 toxoplasmosis, non-human animal biolink:Disease mondo MESH:D014124|UMLS:C0040559 Acquired infection of non-human animals by organisms of the genus toxoplasma. UMLS:C0040559|MESH:D014124 http://purl.obolibrary.org/obo/MONDO_0025270 animal Toxoplasmoses|animal toxoplasmosis|Toxoplasmoses, animal HGNC:175 ACVRL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/175 HGNC:174 ACVR2B biolink:OntologyClass mondo http://identifiers.org/hgnc/174 HGNC:171 ACVR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/171 MONDO:0013299 chromosome 6q11-q14 deletion syndrome biolink:Disease mondo OMIM:613544|DOID:0060423|UMLS:C3150790 http://identifiers.org/omim/613544|UMLS:C3150790|DOID:0060423 http://purl.obolibrary.org/obo/MONDO_0013299 chromosome 6q11-q14 deletion syndrome|chromosome 6Q13-q14 deletion syndrome MONDO:0013293 isolated microphthalmia 6 biolink:Disease mondo UMLS:C3150757|OMIM:613517|ICD10:Q11.0|DOID:0060835 Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. http://identifiers.org/omim/613517|UMLS:C3150757|DOID:0060835 http://purl.obolibrary.org/obo/MONDO_0013293 microphthalmia, isolated type 6|microphthalmia, posterior nonsyndromic|MCOP6|PRSS56 isolated microphthalmia|microphthalmia, isolated 6; MCOP6|posterior nonsyndromic microphthalmia|isolated microphthalmia type 6|isolated microphthalmia caused by mutation in PRSS56|microphthalmia, isolated 6 MONDO:0013294 atopic dermatitis 8 biolink:Disease mondo UMLS:C3150763|DOID:0110104|OMIM:613518 An atopic dermatitis associated with variation in the region 4q22.1. http://identifiers.org/omim/613518|DOID:0110104|UMLS:C3150763 http://purl.obolibrary.org/obo/MONDO_0013294 dermatitis, Atopic, severity of|atopic dermatitis type 8|dermatitis, ATOPIC, 8; ATOD8|ATOD8|dermatitis, ATOPIC, 8 MONDO:0013291 glycogen storage disease XV biolink:Disease mondo DOID:0050579|Orphanet:263297|OMIM:613507|UMLS:C3150754|SCTID:717821004|ICD10:E74.0 Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. SNOMEDCT:717821004|DOID:0050579|UMLS:C3150754|ORPHA:263297|http://identifiers.org/omim/613507 http://purl.obolibrary.org/obo/MONDO_0013291 glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency|glycogen storage disease XV; GSD15|glycogenosis type XV|GSD type 15|Gyg1 deficiency|glycogen storage disease 15|GSD 15|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|GSD15|GSD type XV|glycogen storage disease XV|GSD with severe cardiomyopathy due to glycogenin deficiency|glycogen storage disease type 15|glycogenosis type 15|glycogenin deficiency|glycogen storage disease type XV ordo_disease MONDO:0013292 chromosome 4q21 deletion syndrome biolink:Disease mondo UMLS:C4304530|DOID:0060420|OMIM:613509|UMLS:C3150756|Orphanet:238750|ICD10:Q93.5|SCTID:719660008 The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. UMLS:C4304530|ORPHA:238750|UMLS:C3150756|DOID:0060420|http://identifiers.org/omim/613509|SNOMEDCT:719660008 http://purl.obolibrary.org/obo/MONDO_0013292 Del(4)(q21)|monosomy 4q21|4q21 microdeletion syndrome|chromosome 4q21 deletion syndrome ordo_malformation_syndrome MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H biolink:Disease mondo OMIM:613530|Orphanet:238755|DOID:0110303|GARD:0012532|ICD10:G71.0|UMLS:C3150786 Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle. http://identifiers.org/omim/613530|ORPHA:238755|UMLS:C3150786|DOID:0110303 http://purl.obolibrary.org/obo/MONDO_0013297 LGMD1H|muscular dystrophy limb-girdle type 1H|muscular dystrophy, limb-girdle, type 1H; LGMD1H|limb-girdle muscular dystrophy type 1H|muscular dystrophy, limb-girdle, type 1H ordo_disease MONDO:0013298 chromosome 17q21.31 duplication syndrome biolink:Disease mondo UMLS:C3150787|DOID:0060434|ICD10:Q92.3|Orphanet:217340|SCTID:716683005|UMLS:C4274345|OMIM:613533 The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. UMLS:C4274345|SNOMEDCT:716683005|http://identifiers.org/omim/613533|UMLS:C3150787|DOID:0060434|ORPHA:217340 http://purl.obolibrary.org/obo/MONDO_0013298 chromosome 17q21.31 duplication syndrome|17q21.31 microduplication syndrome|dup(17)(q21.31)|trisomy 17q21.31 ordo_malformation_syndrome MONDO:0013295 atopic dermatitis 9 biolink:Disease mondo DOID:0110105|UMLS:C3150764|OMIM:613519 An atopic dermatitis associated with variation in the region 3p24. http://identifiers.org/omim/613519|DOID:0110105|UMLS:C3150764 http://purl.obolibrary.org/obo/MONDO_0013295 atopic dermatitis type 9|dermatitis, ATOPIC, 9; ATOD9|ATOD9|dermatitis, ATOPIC, 9 GO:0050680 negative regulation of epithelial cell proliferation biolink:OntologyClass mondo Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. http://purl.obolibrary.org/obo/GO_0050680 down-regulation of epithelial cell proliferation|down regulation of epithelial cell proliferation|downregulation of epithelial cell proliferation|inhibition of epithelial cell proliferation MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement biolink:Disease mondo UMLS:C3150773|ONCOTREE:MLNFGFR1|ICDO:9967/3|ICD10:D47.1|Orphanet:168953|UMLS:C2827362|NCIT:C84277|OMIM:613523 Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype. http://identifiers.org/omim/613523|UMLS:C2827362|UMLS:C3150773|NCIT:C84277|ORPHA:168953 http://purl.obolibrary.org/obo/MONDO_0013296 8p11 stem cell syndrome|8p11 stem cell lymphoma/leukemia syndrome|myeloid/lymphoid neoplasms with FGFR1 rearrangement|myeloid/lymphoid neoplasm associated with FGFR1 rearrangement|stem cell leukemia/lymphoma|myeloid/lymphoid neoplasms with FGFR1 rearrangement|8p11 stem cell leukemia/lymphoma syndrome|8p11 myeloproliferative syndrome|chromosome 8p11 myeloproliferative syndrome|myeloid and lymphoid neoplasms with FGFR1 rearrangement ordo_disease GO:0047045 testosterone 17-beta-dehydrogenase (NADP+) activity biolink:OntologyClass mondo Catalysis of the reaction: NADP+ + testosterone = NADPH + H+ + androst-4-ene-3,17-dione. http://purl.obolibrary.org/obo/GO_0047045 testosterone 17beta-dehydrogenase (NADP+)|17beta-hydroxysteroid:NADP+ 17-oxidoreductase activity|NADP-dependent testosterone-17beta-oxidoreductase activity|17-ketoreductase activity HGNC:188 ADAM10 biolink:OntologyClass mondo http://identifiers.org/hgnc/188 HGNC:186 ADA biolink:OntologyClass mondo http://identifiers.org/hgnc/186 MONDO:0025263 strongyle infections, equine biolink:Disease mondo UMLS:C0038459|MESH:D013319 Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum. MESH:D013319|UMLS:C0038459 http://purl.obolibrary.org/obo/MONDO_0025263 strongyle infection, equine|infection, equine strongyle|Strongyloses, equine|infections, equine strongyle|equine Strongyloses|equine strongyle infection|Strongylosis, equine|equine Strongylosis|equine strongyle infections MONDO:0013288 agammaglobulinemia 3, autosomal recessive biolink:Disease mondo UMLS:C3150751|OMIM:613501 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. http://identifiers.org/omim/613501|UMLS:C3150751 http://purl.obolibrary.org/obo/MONDO_0013288 agammaglobulinemia 3, autosomal recessive; AGM3|agammaglobulinemia 3, autosomal recessive|AGM3|autosomal agammaglobulinemia caused by mutation in CD79A|agammaglobulinemia, autosomal recessive, due to Cd79A defect|CD79A autosomal agammaglobulinemia GO:0060004 reflex biolink:OntologyClass mondo An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness. http://purl.obolibrary.org/obo/GO_0060004 MONDO:0013289 agammaglobulinemia 4, autosomal recessive biolink:Disease mondo UMLS:C3150752|OMIM:613502 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene. http://identifiers.org/omim/613502|UMLS:C3150752 http://purl.obolibrary.org/obo/MONDO_0013289 agammaglobulinemia 4, autosomal recessive; AGM4|AGM4|agammaglobulinemia 4, autosomal recessive|BLNK autosomal agammaglobulinemia|autosomal agammaglobulinemia caused by mutation in BLNK|agammaglobulinemia, autosomal recessive, due to Blnk defect MONDO:0013282 alpha 1-antitrypsin deficiency biolink:Disease mondo COHD:192275|DOID:13372|UMLS:C0221757|MedDRA:10001806|SCTID:30188007|OMIM:613490|ICD10:E88.0|NCIT:C84397|ICD10:E88.01|Orphanet:60|GARD:0005784|MESH:D019896|ICD9:273.4 Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. MESH:C531610|http://identifiers.org/omim/613490|DOID:13372|UMLS:C0221757|MESH:D019896|NCIT:C84397|ORPHA:60|SNOMEDCT:30188007|MEDDRA:10001806 http://purl.obolibrary.org/obo/MONDO_0013282 AATD|alpha-1-antitrypsin deficiency|Alpha-1 antitrypsin deficiency|A1AT deficiency|A-1ATD|A1ATD|AAT deficiency|ALPHA-1-antitrypsin deficiency; A1ATD|A1AD|deficiency in Alpa-1-proteinase inhibitor|Alpha 1 antitrypsin deficiency gard_rare|ordo_disease MONDO:0013283 immunodeficiency, common variable, 3 biolink:Disease mondo UMLS:C3150738|OMIM:613493 http://identifiers.org/omim/613493|UMLS:C3150738 http://purl.obolibrary.org/obo/MONDO_0013283 CVID3|immunodeficiency, common variable, type 3|antibody deficiency due to CD19 defect|immunodeficiency, common variable, 3; CVID3|immunodeficiency, common variable, 3 GO:0023019 signal transduction involved in regulation of gene expression biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. http://purl.obolibrary.org/obo/GO_0023019 regulation of gene expression as a consequence of signal transmission MONDO:0013280 myxoid liposarcoma biolink:Disease mondo OMIM:613488|NCIT:C27781|SCTID:404069006|DOID:5709|GARD:0007157|MESH:D018208|EFO:0000613|ICD9:171.9|ICDO:8852/3|DOID:5363 A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma. http://identifiers.org/omim/613488|DOID:5363|SNOMEDCT:404069006|DOID:5709|MESH:D018208|NCIT:C27781 http://purl.obolibrary.org/obo/MONDO_0013280 Myxoliposarcoma|mixed-type liposarcoma|myxoid liposarcoma (morphologic abnormality)|myxoid/round cell liposarcoma|myxoid liposarcoma MONDO:0013281 COG4-CDG biolink:Disease mondo OMIM:613489|Orphanet:263501|ICD10:E77.8|GARD:0012412|DOID:0070262|SCTID:718751000|UMLS:C3150736 COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. http://identifiers.org/omim/613489|UMLS:C3150736|ORPHA:263501|DOID:0070262|SNOMEDCT:718751000 http://purl.obolibrary.org/obo/MONDO_0013281 congenital disorder of glycosylation, type IIj|congenital disorder of glycosylation type IIj|CDG2J|CDG syndrome type IIj|congenital disorder of glycosylation type 2j|congenital disorder of glycosylation, type IIj; CDG2J|carbohydrate deficient glycoprotein syndrome type IIj|CDG-IIj|CDG IIj|COG4-CDG (CDG-IIj) ordo_disease MONDO:0013286 immunodeficiency, common variable, 6 biolink:Disease mondo OMIM:613496|UMLS:C3150741 Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene. http://identifiers.org/omim/613496|UMLS:C3150741 http://purl.obolibrary.org/obo/MONDO_0013286 CD81 common variable immunodeficiency|immunodeficiency, common variable, 6|antibody deficiency due to CD81 defect|immunodeficiency, common variable, 6; CVID6|immunodeficiency, common variable, type 6|common variable immunodeficiency caused by mutation in CD81|CVID6 MONDO:0013287 agammaglobulinemia 2, autosomal recessive biolink:Disease mondo UMLS:C3150750|OMIM:613500|DOID:0060024 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene. http://identifiers.org/omim/613500|UMLS:C3150750|DOID:0060024 http://purl.obolibrary.org/obo/MONDO_0013287 agammaglobulinemia 2, autosomal recessive|AGM2|IGLL1 autosomal agammaglobulinemia|lambda 5 deficiency|agammaglobulinemia, autosomal recessive, due to IGLL1 defect|agammaglobulinemia 2, autosomal recessive; AGM2|autosomal agammaglobulinemia caused by mutation in IGLL1 MONDO:0013284 immunodeficiency, common variable, 4 biolink:Disease mondo UMLS:C3150739|OMIM:613494 http://identifiers.org/omim/613494|UMLS:C3150739 http://purl.obolibrary.org/obo/MONDO_0013284 immunodeficiency, common variable, 4; CVID4|immunodeficiency, common variable, 4|immunodeficiency, common variable, type 4|antibody deficiency due to Baffr defect|CVID4 MONDO:0013285 immunodeficiency, common variable, 5 biolink:Disease mondo OMIM:613495|UMLS:C3150740 Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene. http://identifiers.org/omim/613495|UMLS:C3150740 http://purl.obolibrary.org/obo/MONDO_0013285 immunodeficiency, common variable, 5|immunodeficiency, common variable, 5; CVID5|MS4A1 common variable immunodeficiency|antibody deficiency due to CD20 defect|immunodeficiency, common variable, type 5|common variable immunodeficiency caused by mutation in MS4A1|CVID5 ENVO:01000996 human-directed construction process biolink:OntologyClass mondo An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. http://purl.obolibrary.org/obo/ENVO_01000996 MONDO:0049223 osteogenesis imperfecta, type 19 biolink:Disease mondo UMLS:CN252653|OMIM:301014 http://identifiers.org/omim/301014|UMLS:CN252653 http://purl.obolibrary.org/obo/MONDO_0049223 OI19|osteogenesis imperfecta, type XIX; OI19 ENVO:01000997 environmental system determined by a quality biolink:OntologyClass mondo An environmental system which is determined by materials bearing roughly homogeneous qualities. http://purl.obolibrary.org/obo/ENVO_01000997 GO:0098643 banded collagen fibril biolink:OntologyClass mondo A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). http://purl.obolibrary.org/obo/GO_0098643 MONDO:0049222 intellectual disability, x-linked 107 biolink:Disease mondo OMIM:301013 http://identifiers.org/omim/301013 http://purl.obolibrary.org/obo/MONDO_0049222 intellectual disability, X-linked 107; MRX107|MRX107|mental retardation, X-linked 107; MRX107 ENVO:01000998 environmental system determined by a material biolink:OntologyClass mondo An environmental system within which an environmental material strongly influences the system's composition and properties. http://purl.obolibrary.org/obo/ENVO_01000998 MONDO:0049221 myopia 26, X-linked, female-limited biolink:Disease mondo OMIM:301010|UMLS:C4538795 UMLS:C4538795|http://identifiers.org/omim/301010 http://purl.obolibrary.org/obo/MONDO_0049221 MYP26|myopia 26, X-linked, female-limited; MYP26 ENVO:01000993 manufacturing process biolink:OntologyClass mondo A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. http://purl.obolibrary.org/obo/ENVO_01000993 NCBITaxon:11308 Orthomyxoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11308 HP:0009804 Reduced number of teeth biolink:PhenotypicFeature mondo UMLS:C4024202|UMLS:C4083050 The presence of a reduced number of teeth as in Hypodontia or as in Anodontia. http://purl.obolibrary.org/obo/HP_0009804 Reduced number of teeth|Missing some teeth|Failure of development of some teeth|Fewer teeth than normal|Decreased tooth count|Tooth agenesis|Decreased number of teeth GO:0060037 pharyngeal system development biolink:OntologyClass mondo The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear. http://purl.obolibrary.org/obo/GO_0060037 GO:0098647 collagen beaded filament biolink:OntologyClass mondo A supramolecular assembly of collagen trimers with a 'beads on a string'-like structure. http://purl.obolibrary.org/obo/GO_0098647 beads on a string HGNC:12298 TRH biolink:OntologyClass mondo http://identifiers.org/hgnc/12298 GO:0098644 complex of collagen trimers biolink:OntologyClass mondo A complex of collagen trimers such as a fibril or collagen network. http://purl.obolibrary.org/obo/GO_0098644 Supramolecular aggregate of collagen|Supramolecular collagen assembly GO:0098651 basement membrane collagen trimer biolink:OntologyClass mondo Any collagen timer that is part of a basement membrane. http://purl.obolibrary.org/obo/GO_0098651 ENVO:01000981 mass liquid flow biolink:OntologyClass mondo A process whereby a volume of liquid moves due to a disequilibrium of physical forces. http://purl.obolibrary.org/obo/ENVO_01000981 ENVO:01000982 water flow process biolink:OntologyClass mondo A process during which a volume of water is transported due to a disequilibria in physical forces. http://purl.obolibrary.org/obo/ENVO_01000982 ENVO:01000983 technosphere biolink:OntologyClass mondo A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. http://purl.obolibrary.org/obo/ENVO_01000983 HGNC:166 ACTN4 biolink:OntologyClass mondo http://identifiers.org/hgnc/166 HGNC:164 ACTN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/164 HGNC:163 ACTN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/163 HP:0009815 Aplasia/hypoplasia of the extremities biolink:PhenotypicFeature mondo UMLS:C0239399 Absence (due to failure to form) or underdevelopment of the extremities. http://purl.obolibrary.org/obo/HP_0009815 Absent/underdeveloped extremities|Shortened limbs|Short or absent limbs|Absent/small extremities MONDO:0037250 childhood testicular neoplasm biolink:Disease mondo NCIT:C5053 A neoplasm that arises from the testis during childhood. NCIT:C5053 http://purl.obolibrary.org/obo/MONDO_0037250 pediatric neoplasm of testis|childhood neoplasm of testis|childhood neoplasm of the testis|pediatric testicular neoplasm|neoplasm of testis of childhood|testicular tumor, childhood|pediatric neoplasm of the testis|childhood testicular neoplasm|pediatric neoplasm of testis HP:0009810 Abnormality of upper limb joint biolink:PhenotypicFeature mondo UMLS:C4021387 http://purl.obolibrary.org/obo/HP_0009810 Abnormality of upper limb joint|Abnormality of the joints of the upper limbs MONDO:0037251 congestive splenomegaly biolink:Disease mondo SCTID:19058002 SNOMEDCT:19058002 http://purl.obolibrary.org/obo/MONDO_0037251 congestive splenomegaly|fibrocongestive splenomegaly|banti's spleen|banti syndrome MONDO:0037252 thecoma biolink:Disease mondo MESH:D013798|NCIT:C3405|ICDO:8600/0 An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported. NCIT:C3405|MESH:D013798 http://purl.obolibrary.org/obo/MONDO_0037252 thecoma MONDO:0037253 ovarian thecoma biolink:Disease mondo SCTID:254864005|NCIT:C66989 A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign. NCIT:C66989|SNOMEDCT:254864005 http://purl.obolibrary.org/obo/MONDO_0037253 theca cell neoplasm of the ovary|ovarian theca cell tumor|theca cell neoplasm of ovary|ovarian theca cell neoplasm|ovary thecoma|ovarian thecoma|thecoma of the ovary|theca cell tumor of the ovary|thecoma of ovary|theca cell tumor of ovary GO:0098657 import into cell biolink:OntologyClass mondo The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. http://purl.obolibrary.org/obo/GO_0098657 uptake MONDO:0037254 transitional cell neoplasm biolink:Disease mondo NCIT:C6783|UMLS:C0334265 NCIT:C6783|UMLS:C0334265 http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm|transitional cell tumor MONDO:0037255 ovarian serous tumor biolink:Disease mondo NCIT:C8431|UMLS:C0476122 A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage. UMLS:C0476122|NCIT:C8431 http://purl.obolibrary.org/obo/MONDO_0037255 ovarian serous neoplasm|serous neoplasm of the ovary|ovarian serous tumor|serous neoplasm of ovary|serous tumor of the ovary|serous tumor of ovary GO:0098655 cation transmembrane transport biolink:OntologyClass mondo The process in which a cation is transported across a membrane. http://purl.obolibrary.org/obo/GO_0098655 ATP hydrolysis coupled cation transmembrane transport MONDO:0037256 serous neoplasm biolink:Disease mondo UMLS:C1335951|NCIT:C7074 UMLS:C1335951|NCIT:C7074 http://purl.obolibrary.org/obo/MONDO_0037256 serous neoplasm GO:0098656 anion transmembrane transport biolink:OntologyClass mondo The process in which an anion is transported across a membrane. http://purl.obolibrary.org/obo/GO_0098656 ATP hydrolysis coupled anion transmembrane transport GO:0001675 acrosome assembly biolink:OntologyClass mondo The formation of the acrosome from the spermatid Golgi. http://purl.obolibrary.org/obo/GO_0001675 acrosome formation GO:0001677 formation of translation initiation ternary complex biolink:OntologyClass mondo Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/GO_0001677 translation initiation ternary complex assembly GO:0001678 cellular glucose homeostasis biolink:OntologyClass mondo A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/GO_0001678 cell glucose homeostasis HGNC:132 ACTB biolink:OntologyClass mondo http://identifiers.org/hgnc/132 GO:0060050 positive regulation of protein glycosylation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://purl.obolibrary.org/obo/GO_0060050 positive regulation of protein amino acid glycosylation GO:0060051 negative regulation of protein glycosylation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://purl.obolibrary.org/obo/GO_0060051 negative regulation of protein amino acid glycosylation HGNC:130 ACTA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/130 GO:1902476 chloride transmembrane transport biolink:OntologyClass mondo The process in which chloride is transported across a membrane. http://purl.obolibrary.org/obo/GO_1902476 GO:0060054 positive regulation of epithelial cell proliferation involved in wound healing biolink:OntologyClass mondo Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury. http://purl.obolibrary.org/obo/GO_0060054 CHEBI:8058 phencyclidine biolink:ChemicalSubstance mondo A member of the class of piperidines that is piperidine in which the nitrogen is substituted with a 1-phenylcyclohexyl group. Formerly used as an anaesthetic agent, it exhibits both hallucinogenic and neurotoxic effects. http://purl.obolibrary.org/obo/CHEBI_8058 phencyclidine|1-(1-phenylcyclohexyl)piperidine|fenciclidina|PCP|Phencyclidine|phencyclidinum GO:0098631 cell adhesion mediator activity biolink:OntologyClass mondo The binding by a cell-adhesion protein on a cell surface to an adhesion molecule on another cell surface, to mediate adhesion of the cell to the external substrate or to another cell. http://purl.obolibrary.org/obo/GO_0098631 protein binding involved in cell adhesion|cell adhesion molecule GO:0098632 cell-cell adhesion mediator activity biolink:OntologyClass mondo The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell. http://purl.obolibrary.org/obo/GO_0098632 protein binding involved in cell-cell adhesion|cell-cell adhesion molecule HGNC:24268 ASCC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24268 HGNC:144 ACTG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/144 HGNC:143 ACTC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/143 HGNC:24265 PTRH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/24265 GO:1902494 catalytic complex biolink:OntologyClass mondo A protein complex which is capable of catalytic activity. http://purl.obolibrary.org/obo/GO_1902494 enzyme complex GO:1902492 positive regulation of sperm capacitation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of sperm capacitation. http://purl.obolibrary.org/obo/GO_1902492 up regulation of sperm activation|up-regulation of sperm activation|upregulation of sperm capacitation|activation of sperm activation|upregulation of sperm activation|up regulation of sperm capacitation|positive regulation of sperm activation|up-regulation of sperm capacitation|activation of sperm capacitation GO:0060047 heart contraction biolink:OntologyClass mondo The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. http://purl.obolibrary.org/obo/GO_0060047 heart beating|cardiac contraction|hemolymph circulation GO:1902490 regulation of sperm capacitation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of sperm capacitation. http://purl.obolibrary.org/obo/GO_1902490 regulation of sperm activation GO:0060049 regulation of protein glycosylation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://purl.obolibrary.org/obo/GO_0060049 regulation of protein amino acid glycosylation GO:1902491 negative regulation of sperm capacitation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation. http://purl.obolibrary.org/obo/GO_1902491 down regulation of sperm capacitation|downregulation of sperm activation|inhibition of sperm capacitation|down-regulation of sperm capacitation|down regulation of sperm activation|negative regulation of sperm activation|down-regulation of sperm activation|downregulation of sperm capacitation|inhibition of sperm activation MONDO:0001246 typhus biolink:Disease mondo ICD10:A75.3|ICD10:A75|ICD9:080|ICD10:A75.9|ICD10:A75.1|GARD:0007833|ICD9:081.9|SCTID:240613006|Orphanet:102023|DOID:11256|ICD10:A75.2|ICD10:A75.0|ICD9:081.0|UMLS:C0041472|UMLS:C0041471 A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus. SNOMEDCT:240613006|UMLS:C0041472|UMLS:C0041471|UMLS:C0343758|ORPHA:102023|DOID:11256 http://purl.obolibrary.org/obo/MONDO_0001246 famine fever|endemic flea-borne typhus|murine [endemic] typhus|Moscow typhus|endemic typhus fever|typhus-group rickettsiosis|ship fever|prison fever|classical typhus|jail fever|rat flea typhus|louse-borne [epidemic] typhus|hospital fever|petechial fever|exanthematous typhus|louse-borne rickettsiosis|typhus-group rickettsiae disease|typhus exanthematique|European typhus|epidemic louse-borne typhus|flea-borne rickettsiosis|classical typhus (fever)|flea-borne typhus|Urban typhus|louse-borne typhus|exanthematic typhus fever|epidemic louse-borne typhus fever due to Rickettsia prowazekii|epidemic (louse-borne) typhus|murine typhus|shop typhus|Mexican typhus|flea typhus|typhus fever ordo_group_of_disorders MONDO:0001245 microcytic anemia biolink:Disease mondo SCTID:234349007|NCIT:C35141|DOID:11252|HP:0001935 Anemia in which the red blood cell volume is decreased. SNOMEDCT:234349007|DOID:11252|NCIT:C35141 http://purl.obolibrary.org/obo/MONDO_0001245 HGNC:26899 TMTC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/26899 MONDO:0001244 vitamin K deficiency hemorrhagic disease biolink:Disease mondo ICD9:269.0|DOID:11249|NCIT:C99108|UMLS:C0272348|MESH:D014813|UMLS:C0042880|SCTID:52675005|COHD:435781|ICD10:E56.1 Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. NCIT:C99108|UMLS:C0042880|DOID:11249|SNOMEDCT:52675005|UMLS:C0272348|MESH:D014813 http://purl.obolibrary.org/obo/MONDO_0001244 vitamin K deficiency coagulation disorder|vitamin K deficiency|deficiency of vitamin K MONDO:0001243 disseminated intravascular coagulation biolink:Disease mondo MESH:D004211|COHD:436093|UMLS:C4321305|DOID:11247|NCIT:C2992|UMLS:C0012739|ICD10:D65|SCTID:67406007|ICD9:286.6 A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. UMLS:C0012739|DOID:11247|MESH:D004211|UMLS:C4321305|NCIT:C2992|SNOMEDCT:67406007 http://purl.obolibrary.org/obo/MONDO_0001243 disseminated intravascular coagulation (DIC)|DIC|consumptive coagulopathy|DIC, disseminated intravascular coagulation|diffuse or disseminated intravascular coagulation|disseminated intravascular coagulation|defibrination syndrome|coagulation (DIC), disseminated intravascular|intravascular coagulation (DIC), disseminated MONDO:0001249 trachoma biolink:Disease mondo ICD10:A71.1|ICD10:A71.0|UMLS:C0040592|ICD10:A71|GARD:0010374|SCTID:2576002|ICD9:076.1|ICD9:076.0|ICD10:A71.9|MESH:D014141|ICD9:076|ICD9:076.9|DOID:11265|COHD:380640 A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis. UMLS:C0040592|DOID:11265|SNOMEDCT:2576002|MESH:D014141 http://purl.obolibrary.org/obo/MONDO_0001249 active stage trachoma|trachoma dubium gard_rare MONDO:0001248 obsolete rabies biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001248 MONDO:0001247 social phobia biolink:Disease mondo NCIT:C34927|ICD10:F40.10|EFO:1001917|ICD9:300.23|DOID:11257|COHD:440690|ICD10:F40.1|SCTID:25501002 An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable. NCIT:C34927|DOID:11257|SNOMEDCT:25501002 http://purl.obolibrary.org/obo/MONDO_0001247 social anxiety disorder MONDO:0001242 disseminated intravascular coagulation in newborn biolink:Disease mondo COHD:432443|ICD10:P60|NCIT:C111856|DOID:11246|UMLS:C0158992|ICD9:776.2|SCTID:34417008 A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn. UMLS:C0158992|SNOMEDCT:34417008|DOID:11246|NCIT:C111856 http://purl.obolibrary.org/obo/MONDO_0001242 neonatal disseminated intravascular coagulation|disseminated intravascular coagulation in newborn|DIC in newborn MONDO:0001241 transient neonatal neutropenia biolink:Disease mondo ICD9:776.7|ICD10:P61.5|DOID:11245|COHD:439149|SCTID:55444004|UMLS:C0158997 UMLS:C0158997|DOID:11245|SNOMEDCT:55444004 http://purl.obolibrary.org/obo/MONDO_0001241 MONDO:0001240 neonatal anemia biolink:Disease mondo UMLS:C0002891|SCTID:234350007|DOID:11244|MESH:D000751 The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation. DOID:11244|SNOMEDCT:234350007|UMLS:C0002891|MESH:D000751 http://purl.obolibrary.org/obo/MONDO_0001240 anemia neonatal HGNC:26894 TPRN biolink:OntologyClass mondo http://identifiers.org/hgnc/26894 MONDO:0015898 adrenogenital syndrome biolink:Disease mondo ICD9:255.2|UMLS:C0302280|MedDRA:10061630|UMLS:CN200506|Orphanet:181412|SCTID:267395000|MESH:D047808 Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children. SNOMEDCT:267395000|MEDDRA:10061630|MESH:D047808|UMLS:C0302280|ORPHA:181412|UMLS:CN200506 http://purl.obolibrary.org/obo/MONDO_0015898 androgenital syndrome|congenital adrenal hyperplasia|adrenogenital syndrome|adrenogenital disorder ordo_group_of_disorders MONDO:0013235 pancreatic cancer, susceptibility to, 2 biolink:Disease mondo OMIM:613347 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene. http://identifiers.org/omim/613347 http://purl.obolibrary.org/obo/MONDO_0013235 Pnca2|pancreatic cancer, susceptibility to, 2|BRCA2 familial pancreatic carcinoma|susceptibility to pancreatic cancer 2|familial pancreatic carcinoma caused by mutation in BRCA2|pancreatic cancer, susceptibility to, type 2 predisposition MONDO:0015897 obsolete rare hyperparathyroidism biolink:Disease mondo Orphanet:181408 Rare hyperparathyroidism. ORPHA:181408 http://purl.obolibrary.org/obo/MONDO_0015897 rare hyperparathyroidism obsoletion_candidate|ordo_group_of_disorders MONDO:0013236 pancreatic cancer, susceptibility to, 3 biolink:Disease mondo OMIM:613348 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene. http://identifiers.org/omim/613348 http://purl.obolibrary.org/obo/MONDO_0013236 Pnca3|PALB2 familial pancreatic carcinoma|familial pancreatic carcinoma caused by mutation in PALB2|pancreatic cancer, susceptibility to, 3|susceptibility to pancreatic cancer 3|pancreatic cancer, susceptibility to, type 3 predisposition MONDO:0015896 obsolete rare hypoparathyroidism biolink:Disease mondo Orphanet:181405 Rare hypoparathyroidism. ORPHA:181405 http://purl.obolibrary.org/obo/MONDO_0015896 rare hypoparathyroidism obsoletion_candidate|clingen|ordo_group_of_disorders MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type biolink:Disease mondo OMIM:613343|Orphanet:99642|UMLS:C3150545|ICD10:Q77.7 Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging. UMLS:C3150545|http://identifiers.org/omim/613343|ORPHA:99642 http://purl.obolibrary.org/obo/MONDO_0013233 spondyloepimetaphyseal dysplasia, Handigodu type|Hjd|Handigodu JOINT disease ordo_disease MONDO:0013234 hypokalemic periodic paralysis, type 2 biolink:Disease mondo OMIM:613345|UMLS:C2750061|MESH:C567635 UMLS:C2750061|http://identifiers.org/omim/613345|MESH:C567635 http://purl.obolibrary.org/obo/MONDO_0013234 hypokalemic periodic paralysis, type 2; HOKPP2|hypokalemic periodic paralysis, type 2|HOKPP2 MONDO:0015895 syndrome with hypoparathyroidism biolink:Disease mondo Orphanet:181402|UMLS:CN200505 ORPHA:181402|UMLS:CN200505 http://purl.obolibrary.org/obo/MONDO_0015895 ordo_group_of_disorders MONDO:0013239 hereditary spastic paraplegia 41 biolink:Disease mondo SCTID:763069002|OMIM:613364|Orphanet:320355|ICD10:G11.4|DOID:0110793|UMLS:CN203988 Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. ORPHA:320355|DOID:0110793|SNOMEDCT:763069002|http://identifiers.org/omim/613364|UMLS:CN203988 http://purl.obolibrary.org/obo/MONDO_0013239 spastic paraplegia 41, autosomal dominant; SPG41|hereditary spastic paraplegia type 41|autosomal dominant spastic paraplegia 41|autosomal dominant spastic paraplegia type 41|SPG41|spastic paraplegia 41, autosomal dominant ordo_disease MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild biolink:Disease mondo OMIM:613353|UMLS:C3150596 UMLS:C3150596|http://identifiers.org/omim/613353 http://purl.obolibrary.org/obo/MONDO_0013237 mononeuropathy of the median nerve, mild|carpal tunnel syndrome, susceptibility to|MNMN|mononeuropathy of the median nerve, mild; MNMN MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome biolink:Disease mondo UMLS:C3150607|Orphanet:261279|UMLS:C4304591|OMIM:613355|ICD10:Q93.5|SCTID:719584008|DOID:0060405|GARD:0010936 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. UMLS:C4304591|UMLS:C3150607|DOID:0060405|SNOMEDCT:719584008|ORPHA:261279|http://identifiers.org/omim/613355 http://purl.obolibrary.org/obo/MONDO_0013238 17q23.1q23.2 microdeletion syndrome|Del(17)(q23.1q23.2)|monosomy 17q23.1-q23.2|monosomy 17q23.1q23.2|17q23.1-q23.2 microdeletion syndrome|chromosome 17q23.1-q23.2 deletion syndrome ordo_malformation_syndrome MONDO:0015899 obsolete rare primary hyperaldosteronism biolink:Disease mondo Orphanet:181415 Any of the forms of primary aldosteronism that have a rare incidence. ORPHA:181415 http://purl.obolibrary.org/obo/MONDO_0015899 rare Conn's syndrome|rare primary aldosteronism|rare Conn syndrome ordo_group_of_disorders|obsoletion_candidate MONDO:0015890 rare disorder with congenital hypogonadotropic hypogonadism biolink:Disease mondo Orphanet:181387 ORPHA:181387 http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with hypogonadotropic hypogonadism|rare disorder with secondary hypogonadism ordo_group_of_disorders|obsoletion_candidate MONDO:0013231 Leber congenital amaurosis 14 biolink:Disease mondo ICD10:H35.5|UMLS:C2750063|OMIM:613341|DOID:0110188|MESH:C567636|GARD:0010883 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene. DOID:0110188|UMLS:C2750063|http://identifiers.org/omim/613341|MESH:C567636 http://purl.obolibrary.org/obo/MONDO_0013231 Leber congenital amaurosis type 14|LCA14|retinal dystrophy, early-onset Severe, LRAT-related|Leber congenital amaurosis caused by mutation in LRAT|LRAT Leber congenital amaurosis|Leber congenital amaurosis 14|retinitis pigmentosa, juvenile, LRAT-related|Leber congenital amaurosis 14; LCA14 gard_rare MONDO:0015894 obsolete rare hyperthyroidism biolink:Disease mondo Orphanet:181399 Any of the forms of hyperthyroidism that have a rare incidence. ORPHA:181399 http://purl.obolibrary.org/obo/MONDO_0015894 rare hyperthyroidism ordo_group_of_disorders|obsoletion_candidate MONDO:0015893 obsolete rare hypothyroidism biolink:Disease mondo Orphanet:181396 Any of the forms of hypothyroidism that have a rare incidence. ORPHA:181396 http://purl.obolibrary.org/obo/MONDO_0015893 rare hypothyroidism obsoletion_candidate|ordo_group_of_disorders MONDO:0013232 brachydactylous dwarfism, Mseleni type biolink:Disease mondo UMLS:C2931420|MESH:C537086|Orphanet:2619|SCTID:715470008|GARD:0000960|ICD10:Q77.7|OMIM:613342 Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD. UMLS:C2931420|http://identifiers.org/omim/613342|MESH:C537086|ORPHA:2619|SNOMEDCT:715470008 http://purl.obolibrary.org/obo/MONDO_0013232 Mseleni joint disease|brachydactylous dwarfs of Mseleni|brachydactylous dwarfism Mseleni type|Mseleni JOINT disease ordo_disease MONDO:0015892 growth hormone insensitivity syndrome biolink:Disease mondo ICD10:E34.3|GARD:0003924|UMLS:CN200504|UMLS:C0271568|NCIT:C129867|UMLS:C4318479|Orphanet:181393 Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency. UMLS:C0271568|UMLS:C4318479|ORPHA:181393|UMLS:CN200504|NCIT:C129867 http://purl.obolibrary.org/obo/MONDO_0015892 GHIS|short stature due to a defect in growth hormone receptor or post-receptor pathway|Growth hormone insensitivity syndromes ordo_group_of_disorders MONDO:0013230 epilepsy, hot water, 2 biolink:Disease mondo UMLS:C3150536|OMIM:613340 UMLS:C3150536|http://identifiers.org/omim/613340 http://purl.obolibrary.org/obo/MONDO_0013230 HWE2|epilepsy, hot water, 2; HWE2|epilepsy, hot water, 2 MONDO:0015891 hypogonadotropic hypogonadism associated with other endocrinopathies biolink:Disease mondo Orphanet:181390 ORPHA:181390 http://purl.obolibrary.org/obo/MONDO_0015891 ordo_group_of_disorders MONDO:0001257 retinal microaneurysm biolink:Disease mondo SCTID:34037000|ICD9:362.14|COHD:432890|DOID:11295|UMLS:C0154834 SNOMEDCT:34037000|DOID:11295|UMLS:C0154834 http://purl.obolibrary.org/obo/MONDO_0001257 MONDO:0001256 arteriovenous hemangioma/malformation biolink:Disease mondo SCTID:233982006|NCIT:C2882|UMLS:C0334533|ICDO:9123/0|CSP:0571-2717|HP:0100026|DOID:11294|ICD10:I77.0|MESH:D001165 A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. DOID:11294|SNOMEDCT:233982006|UMLS:C0334533|MESH:D001165|NCIT:C2882 http://purl.obolibrary.org/obo/MONDO_0001256 cirsoid aneurysm|racemose hemangioma (morphologic abnormality)|arteriovenous hemangioma|arteriovenous malformation|racemose hemangioma|racemose angioma|racemose aneurysm (morphologic abnormality)|racemose aneurysm|arteriovenous angioma|arteriovenous hemangioma/malformation HGNC:24249 YARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/24249 MONDO:0001255 ventilation pneumonitis biolink:Disease mondo DOID:11289|COHD:434670|ICD10:J67.7|ICD9:495.7|SCTID:195990006|UMLS:C0155891 An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. SNOMEDCT:195990006|DOID:11289|UMLS:C0155891 http://purl.obolibrary.org/obo/MONDO_0001255 humidifier lung|Air-conditioner and humidifier lung HGNC:24247 GLYCTK biolink:OntologyClass mondo http://identifiers.org/hgnc/24247 MONDO:0001254 obsolete peripheral scars of retina biolink:Disease mondo DOID:11283|ICD9:363.34 DOID:11283 http://purl.obolibrary.org/obo/MONDO_0001254 MONDO:0001259 pituitary gland infarction biolink:Disease mondo DOID:1130|ICD9:253.8|SCTID:95830009|UMLS:C0342405|NCIT:C27117 Ischemic necrosis of the pituitary gland. UMLS:C0342405|NCIT:C27117|DOID:1130|SNOMEDCT:95830009 http://purl.obolibrary.org/obo/MONDO_0001259 pituitary gland infarction|pituitary infarct|pituitary infarction MONDO:0001258 vertebral artery occlusion biolink:Disease mondo ICD9:433.21|ICD9:433.20|SCTID:195182007|DOID:11299|ICD10:I65.0|ICD9:433.2 DOID:11299|SNOMEDCT:195182007 http://purl.obolibrary.org/obo/MONDO_0001258 vertebral artery occlusion|occlusion and stenosis of vertebral artery|vertebrobasial artery occlusion MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 biolink:Disease mondo MESH:C567647|OMIM:613312|UMLS:C2750078 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene. http://identifiers.org/omim/613312|MESH:C567647|UMLS:C2750078 http://purl.obolibrary.org/obo/MONDO_0013219 ENPP1 autosomal recessive hypophosphatemic rickets|hypophosphatemic rickets, autosomal recessive, type 2|autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1|ARHR2|hypophosphatemic rickets, autosomal recessive, 2; ARHR2|hypophosphatemic rickets, autosomal recessive, 2 MONDO:0001253 obsolete solar retinopathy biolink:Disease mondo UMLS:C0152131|SCTID:1135000|ICD10:H31.02|DOID:11282|ICD9:363.31 DOID:11282|UMLS:C0152131|SNOMEDCT:1135000 http://purl.obolibrary.org/obo/MONDO_0001253 solar retinitis MONDO:0001252 Plummer disease biolink:Disease mondo DOID:11277|COHD:134619|NCIT:C35171|ICD9:242.30|UMLS:C0342127|ICD10:E05.2|SCTID:57777000|ICD9:242.3|EFO:0009191 Nodular enlargement of the thyroid gland associated with hyperthyroidism. DOID:11277|NCIT:C35171|SNOMEDCT:57777000|UMLS:C0342127 http://purl.obolibrary.org/obo/MONDO_0001252 Toxic goiter|toxic nodular goiter|Plummer disease|Plummer's disease HGNC:24245 DRC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24245 MONDO:0001251 chronic apical periodontitis biolink:Disease mondo DOID:11269|ICD9:522.6|SCTID:718052004|UMLS:C0392492|COHD:137591|ICD10:K04.5 Chronic form of periapical periodontitis. DOID:11269|UMLS:C0392492|SNOMEDCT:718052004 http://purl.obolibrary.org/obo/MONDO_0001251 periapical periodontitis, chronic|chronic periapical periodontitis MONDO:0001250 keratomalacia biolink:Disease mondo MESH:C536156|DOID:11267|UMLS:C0152455|ICD9:371.45|ICD10:H18.44|SCTID:85149007|GARD:0006825 An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia. DOID:11267|UMLS:C0152455|MESH:C536156|SNOMEDCT:85149007 http://purl.obolibrary.org/obo/MONDO_0001250 MONDO:0013224 rhabdoid tumor predisposition syndrome 2 biolink:Disease mondo OMIM:613325|MESH:C567643|UMLS:C2750074 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene. UMLS:C2750074|http://identifiers.org/omim/613325|MESH:C567643 http://purl.obolibrary.org/obo/MONDO_0013224 rhabdoid tumor predisposition syndrome 2|familial rhabdoid tumor caused by mutation in SMARCA4|SMARCA4 familial rhabdoid tumor|RTPS2|rhabdoid tumor predisposition syndrome 2; RTPS2|rhabdoid tumor predisposition syndrome type 2 MONDO:0015887 rare diabetes mellitus type 2 biolink:Disease mondo Orphanet:181376 ORPHA:181376 http://purl.obolibrary.org/obo/MONDO_0015887 rare insulin-independent diabetes mellitus ordo_group_of_disorders|obsoletion_candidate MONDO:0013225 congenital generalized lipodystrophy type 4 biolink:Disease mondo Orphanet:228429|MESH:C567642|DOID:0111138|ICD10:E88.1|OMIM:613327|UMLS:C2750069|GARD:0010937 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene. MESH:C567642|DOID:0111138|UMLS:C2750069|ORPHA:228429|http://identifiers.org/omim/613327 http://purl.obolibrary.org/obo/MONDO_0013225 CGL4|GCL4|CAVIN1 congenital generalized lipodystrophy (disease)|generalized congenital lipodystrophy with myopathy|Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy|Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy|lipodystrophy, congenital generalized, type 4; CGL4|congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1|Brunzell syndrome AGPAT2-related|lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy|generalized congenital lipodystrophy type 4|BSCL4|lipodystrophy, congenital generalized, type 4 ordo_disease MONDO:0015886 obsolete rare diabetes mellitus type 1 biolink:Disease mondo Orphanet:181371 Any of the forms of type 1 diabetes mellitus that have a rare incidence. ORPHA:181371 http://purl.obolibrary.org/obo/MONDO_0015886 rare type 1 diabetes mellitus|rare insulin-dependent diabetes mellitus ordo_group_of_disorders|obsoletion_candidate HGNC:12269 TREX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12269 MONDO:0013222 Miyoshi muscular dystrophy 3 biolink:Disease mondo DOID:0070201|UMLS:C2750076|ICD10:G71.0|Orphanet:399096|OMIM:613319|MESH:C567645 UMLS:C2750076|DOID:0070201|http://identifiers.org/omim/613319|MESH:C567645|ORPHA:399096 http://purl.obolibrary.org/obo/MONDO_0013222 Miyoshi muscular dystrophy 3|distal anoctaminopathy|MMD3|Miyoshi muscular dystrophy type 3|Miyoshi muscular dystrophy 3; MMD3|Miyoshi myopathy 3 ordo_disease MONDO:0015885 rare insulin-resistance syndrome biolink:Disease mondo UMLS:C3714619|Orphanet:181368|NCIT:C113169 A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. NCIT:C113169|UMLS:C3714619|ORPHA:181368 http://purl.obolibrary.org/obo/MONDO_0015885 insulin Resistance syndrome ordo_group_of_disorders|obsoletion_candidate MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia biolink:Disease mondo ICD10:Q82.4|Orphanet:1810 Autosomal dominant form of hypohidrotic ectodermal dysplasia. ORPHA:1810|UMLS:C0265331 http://purl.obolibrary.org/obo/MONDO_0015884 AD-HED|autosomal dominant anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia, autosomal dominant ordo_etiological_subtype MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type biolink:Disease mondo OMIM:613320|MESH:C567644|ICD10:Q77.8|UMLS:C2750075|Orphanet:401979 Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene. UMLS:C2750075|http://identifiers.org/omim/613320|ORPHA:401979|MESH:C567644 http://purl.obolibrary.org/obo/MONDO_0013223 SMDMDM|spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type|PAM16 spondylodysplastic dysplasia|autosomal recessive spondylometaphyseal dysplasia, Mégarbané type|chondrodysplasia, Megarbane-Dagher-Melki type|spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type; SMDMDM|spondylodysplastic dysplasia caused by mutation in PAM16 ordo_malformation_syndrome MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia biolink:Disease mondo UMLS:C2750066|OMIM:613330|Orphanet:228387|MESH:C567639|ICD10:Q77.7 MESH:C567639|UMLS:C2750066|ORPHA:228387|http://identifiers.org/omim/613330 http://purl.obolibrary.org/obo/MONDO_0013228 SMMD|spondylo-megaepiphyseal-metaphyseal dysplasia; SMMD|spondylo-megaepiphyseal-metaphyseal dysplasia ordo_disease MONDO:0013229 hot water reflex epilepsy biolink:Disease mondo OMIMPS:613339|SCTID:230454005|ICD9:345.10|ICD10:G40.8|DC:0000151|UMLS:CN200053|Orphanet:166412|UMLS:C0393729 Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. UMLS:CN200053|SNOMEDCT:230454005|UMLS:C0393729|ORPHA:166412 http://purl.obolibrary.org/obo/MONDO_0013229 water immersion epilepsy|epilepsy, hot water|hot water epilepsy|bathing epilepsy ordo_disease MONDO:0015889 rare hypothalamic or pituitary disease biolink:Disease mondo Orphanet:181384|UMLS:CN200503 ORPHA:181384|UMLS:CN200503 http://purl.obolibrary.org/obo/MONDO_0015889 ordo_group_of_disorders|obsoletion_candidate MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies biolink:Disease mondo UMLS:C2750068|MESH:C567641|Orphanet:221139|ICD10:Q87.8|OMIM:613328 Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). MESH:C567641|UMLS:C2750068|ORPHA:221139|http://identifiers.org/omim/613328 http://purl.obolibrary.org/obo/MONDO_0013226 Roifman-Chitayat syndrome|ROIFMAN-Chitayat syndrome|combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay ordo_disease MONDO:0015888 other rare diabetes mellitus biolink:Disease mondo Orphanet:181381|UMLS:CN226773 UMLS:CN226773|ORPHA:181381 http://purl.obolibrary.org/obo/MONDO_0015888 ordo_group_of_disorders|obsoletion_candidate MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency biolink:Disease mondo Orphanet:465|GARD:0004381|MESH:C567640|ICD10:D68.8|OMIM:613329|SCTID:717407006|NCIT:C133884 Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. MESH:C567640|ORPHA:465|NCIT:C133884|SNOMEDCT:717407006|http://identifiers.org/omim/613329 http://purl.obolibrary.org/obo/MONDO_0013227 congenital PAI-1 deficiency|plasminogen activator inhibitor type 1 deficiency|hyperfibrinolysis due to Pai1 deficiency|plasminogen activator INHIBITOR-1 deficiency ordo_disease SO:0001877 lnc_RNA biolink:SequenceFeature mondo A non-coding RNA over 200nucleotides in length. http://purl.obolibrary.org/obo/SO_0001877 INSDC_qualifier:lncRNA|long non-coding RNA|lncRNA_transcript|INSDC_feature:ncRNA HGNC:12261 TRDN biolink:OntologyClass mondo http://identifiers.org/hgnc/12261 MONDO:0013220 hemochromatosis type 2B biolink:Disease mondo UMLS:C1865616|OMIM:613313|DOID:0111032|MESH:C566557 Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene. UMLS:C1865616|http://identifiers.org/omim/613313|DOID:0111032|MESH:C566557 http://purl.obolibrary.org/obo/MONDO_0013220 HAMP hemochromatosis type 2|hemochromatosis, type 2B|hemochromatosis, type 2B; HFE2B|hemochromatosis type 2 caused by mutation in HAMP|HFE2B MONDO:0015883 hidrotic ectodermal dysplasia, Halal type biolink:Disease mondo MESH:C535621|Orphanet:1809|ICD10:Q82.8|GARD:0000280|UMLS:C2930953|SCTID:721147000 Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. SNOMEDCT:721147000|MESH:C535621|UMLS:C2930953|ORPHA:1809 http://purl.obolibrary.org/obo/MONDO_0015883 ectodermal dysplasia with skin anomalies and intellectual disability|hidrotic ectodermal dysplasia Halal type|trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome|Halal Setton Wang syndrome|Halal-Setton-Wang syndrome ordo_malformation_syndrome HGNC:12266 TREH biolink:OntologyClass mondo http://identifiers.org/hgnc/12266 MONDO:0015882 obsolete rare tumor of pancreas biolink:Disease mondo Orphanet:180824 Any of the forms of pancreatic neoplasm that have a rare incidence. ORPHA:180824 http://purl.obolibrary.org/obo/MONDO_0015882 rare pancreas neoplasm|rare pancreatic neoplasm|rare pancreas tumor|rare pancreatic tumor obsoletion_candidate|ordo_group_of_disorders MONDO:0013221 Miyoshi muscular dystrophy 2 biolink:Disease mondo DOID:0070200|OMIM:613318|UMLS:C2750077|MESH:C567646 UMLS:C2750077|DOID:0070200|http://identifiers.org/omim/613318|MESH:C567646 http://purl.obolibrary.org/obo/MONDO_0013221 Miyoshi muscular dystrophy 2|MMD2|MIYOSHI muscular dystrophy 2; MMD2|Miyoshi myopathy 2 MONDO:0015881 obsolete gastroesophageal tumor biolink:Disease mondo Orphanet:180821|UMLS:CN200488 A tumor involving the gastroesophageal tissue. ORPHA:180821|UMLS:CN200488 http://purl.obolibrary.org/obo/MONDO_0015881 rare gastroesophageal tumor ordo_group_of_disorders MONDO:0015880 syndromic diaphragmatic or thoracic malformation biolink:Disease mondo Orphanet:180779|UMLS:CN226770 UMLS:CN226770|ORPHA:180779 http://purl.obolibrary.org/obo/MONDO_0015880 ordo_group_of_disorders NCBITaxon:37962 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_37962 NCBITaxon:35301 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_35301 MONDO:0003887 ovarian mucinous adenofibroma biolink:Disease mondo DOID:6469|UMLS:C1518723|NCIT:C40040 A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma. DOID:6469|UMLS:C1518723|NCIT:C40040 http://purl.obolibrary.org/obo/MONDO_0003887 ovarian mucinous adenofibroma|mucinous adenofibroma of ovary|ovary mucinous adenofibroma MONDO:0001224 Angelucci syndrome biolink:Disease mondo SCTID:67678004|ICD10:H10.1|COHD:380111|NCIT:C34353|UMLS:C0001309|DOID:11203|ICD9:372.05 Atopic conjunctivitis that is of relatively short duration and that has a rapid onset. UMLS:C0001309|NCIT:C34353|DOID:11203|SNOMEDCT:67678004 http://purl.obolibrary.org/obo/MONDO_0001224 Angelucci's syndrome|Angelucci syndrome|acute atopic conjunctivitis NCBITaxon:11320 Influenza A virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11320 FLUAV|Human Influenza A Virus|Influenza virus type A MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma biolink:Disease mondo UMLS:C1333008|DOID:6474|NCIT:C6539 A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components. DOID:6474|NCIT:C6539|UMLS:C1333008 http://purl.obolibrary.org/obo/MONDO_0003888 childhood teratocarcinoma of testis|childhood testicular teratocarcinoma|childhood teratocarcinoma of the testis|childhood testicular mixed embryonal carcinoma and teratoma|pediatric testicular teratocarcinoma MONDO:0001223 parathyroid gland disease biolink:Disease mondo EFO:0005754|COHD:138713|ICD10:E21.5|UMLS:C0030517|ICD9:252.8|DOID:11201|ICD9:252|ICD9:252.9|SCTID:73132005|MESH:D010279|NCIT:C26844 A disease involving the parathyroid gland. UMLS:C0030517|SNOMEDCT:73132005|MESH:D010279|DOID:11201|NCIT:C26844 http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid disease|parathyroid gland diseases|disorder of parathyroid gland|disease or disorder of parathyroid gland|disease of parathyroid glands|parathyroid gland disorders|parathyroid gland disease|disease of parathyroid gland|parathyroid gland disorder|parathyroid gland disease or disorder|disorder of parathyroid gland HGNC:26877 CKAP2L biolink:OntologyClass mondo http://identifiers.org/hgnc/26877 MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant biolink:Disease mondo NCIT:C39827|UMLS:C1512737|DOID:6476 An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells. DOID:6476|UMLS:C1512737|NCIT:C39827 http://purl.obolibrary.org/obo/MONDO_0003889 clear cell variant infiltrating bladder urothelial carcinoma|infiltrating bladder urothelial carcinoma, clear cell variant MONDO:0001222 congenital T-cell immunodeficiency biolink:Disease mondo NCIT:C27872|UMLS:C1333147|DOID:11200 A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. DOID:11200|NCIT:C27872|UMLS:C1333147 http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency|T cell deficiency MONDO:0001221 esophageal varices biolink:Disease mondo ICD10:I85.01|ICD9:456.2|ICD10:I85|NCIT:C53506|DOID:112|ICD9:456.20|MESH:D004932|SCTID:28670008|ICD9:456.0|GARD:0006384 Abnormally dilated veins of the esophagus. DOID:112|SNOMEDCT:28670008|MESH:D004932|NCIT:C78282|NCIT:C53506 http://purl.obolibrary.org/obo/MONDO_0001221 esophageal varices in disease classified elsewhere, with bleeding|bleeding esophageal varices|bleeding oesophageal varices|esophageal varices with bleeding|esophageal varices without bleeding|varicose disease of esophagus|esophageal varices without mention of bleeding|esophageal varix|esophageal varices|esophageal varices with bleeding in disease EC|esophagus varicose disease MONDO:0003883 obsolete cerebellar liponeurocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003883 MONDO:0001228 conjunctival folliculosis biolink:Disease mondo ICD10:H10.01|SCTID:41308008|DOID:11219|COHD:376412|ICD9:372.02|UMLS:C0155143 UMLS:C0155143|SNOMEDCT:41308008|DOID:11219 http://purl.obolibrary.org/obo/MONDO_0001228 acute follicular conjunctivitis MONDO:0003884 lipoma of the rectum biolink:Disease mondo DOID:6459|UMLS:C1335684|NCIT:C5551 A benign adipose tissue neoplasm of the rectum. NCIT:C5551|UMLS:C1335684|DOID:6459 http://purl.obolibrary.org/obo/MONDO_0003884 lipoma of rectum|rectal lipoma|rectum lipoma MONDO:0001227 chronic tympanitis biolink:Disease mondo UMLS:C0395849|ICD10:H73.1|COHD:372652|DOID:11217|ICD9:384.1|ICD10:H73.10|SCTID:89723004 Chronic form of tympanitis. SNOMEDCT:89723004|DOID:11217|UMLS:C0395849 http://purl.obolibrary.org/obo/MONDO_0001227 tympanitis, chronic MONDO:0001226 acute contagious conjunctivitis biolink:Disease mondo SCTID:399219006|DOID:11213|NCIT:C35704|UMLS:C1313983|ICD9:041.89 Acute inflammation of the conjunctiva characterized by pink or red color in the eyes. NCIT:C35704|UMLS:C1313983|DOID:11213|SNOMEDCT:399219006 http://purl.obolibrary.org/obo/MONDO_0001226 Contagious opthalmia|pinkeye|conjunctivitis infective|pink eye MONDO:0003885 colorectal lipoma biolink:Disease mondo NCIT:C5678|DOID:6460|UMLS:C1333114 A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum. NCIT:C5678|UMLS:C1333114|DOID:6460 http://purl.obolibrary.org/obo/MONDO_0003885 lipoma of the large bowel|large bowel lipoma|lipoma of large bowel|large intestine lipoma|colorectal lipoma|lipoma of large intestine|lipoma of the large intestine MONDO:0001225 opioid abuse biolink:Disease mondo ICD9:305.5|SCTID:5602001|DOID:11206|ICD10:F11.1 A substance abuse that involves the recurring use of opioid drugs despite negative consequences. DOID:11206|SNOMEDCT:5602001 http://purl.obolibrary.org/obo/MONDO_0001225 MONDO:0003886 mucinous cystadenofibroma biolink:Disease mondo UMLS:C1377844|DOID:6468|NCIT:C8979 A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. NCIT:C8979|UMLS:C1377844|DOID:6468 http://purl.obolibrary.org/obo/MONDO_0003886 mucinous cystadenofibroma MONDO:0003880 ceruminous carcinoma biolink:Disease mondo ICDO:8420/3|DOID:6446|UMLS:C0334353|NCIT:C4176 An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal. NCIT:C4176|UMLS:C0334353|DOID:6446 http://purl.obolibrary.org/obo/MONDO_0003880 ceruminous adenocarcinoma (morphologic abnormality)|ceruminous adenocarcinoma|carcinoma, ceruminous gland, malignant MONDO:0003881 vulvar apocrine adenocarcinoma biolink:Disease mondo DOID:6448|UMLS:C2202741|NCIT:C40308 An apocrine adenocarcinoma that arises from the sweat glands in the vulva. NCIT:C40308|UMLS:C2202741|DOID:6448 http://purl.obolibrary.org/obo/MONDO_0003881 apocrine adenocarcinoma of mammalian vulva|mammalian vulva apocrine adenocarcinoma|vulvar apocrine adenocarcinoma MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome biolink:Disease mondo ICD9:277.89|UMLS:CN035550|Orphanet:309854|SCTID:702377007|MESH:C548016|GARD:0010706|OMIM:613280 http://identifiers.org/omim/613280|MESH:C548016|SNOMEDCT:702377007|UMLS:C2750442|ORPHA:309854|UMLS:CN035550 http://purl.obolibrary.org/obo/MONDO_0013208 hypermanganesemia with dystonia, polycythemia, and cirrhosis; HMDPC|hypermanganesemia with dystonia polycythemia and cirrhosis|hypermanganesemia with dystonia 1|HMDPC|hypermanganesemia with dystonia 1; HMNDYT1|hypermanganesemia with dystonia, polycythemia, and cirrhosis|HMNDYT1 ordo_disease MONDO:0013209 non-alcoholic fatty liver disease biolink:Disease mondo EFO:0003095|MedDRA:10029530|NCIT:C84444|EFO:1001248|DC:0000158|SCTID:197315008|ICD9:571.8|DOID:0080208|MESH:D065626 A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. DOID:0080208|SNOMEDCT:197315008|MESH:D065626|NCIT:C84444 http://purl.obolibrary.org/obo/MONDO_0013209 fatty liver disease, nonalcoholic|non-alcoholic fatty liver|liver disease, alcoholic, susceptibility to, 1|NAFLD1|NAFLD - nonalcoholic fatty liver disease|non-alcoholic fatty liver disease|fatty liver disease, nonalcoholic, susceptibility to, 1; NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1|nonalcoholic fatty liver disease predisposition MONDO:0003882 central nervous system fibrosarcoma biolink:Disease mondo UMLS:C1332879|NCIT:C5465|DOID:6451 A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. UMLS:C1332879|NCIT:C5465|DOID:6451 http://purl.obolibrary.org/obo/MONDO_0003882 CNS fibrosarcoma|central nervous system fibrosarcoma|fibrosarcoma of the CNS|central nervous system fibrosarcoma (disease)|fibrosarcoma of central nervous system|fibrosarcoma of the central nervous system|fibrosarcoma of CNS MONDO:0001220 hypoparathyroidism biolink:Disease mondo ICD10:E20.9|SCTID:36976004|ICD9:252.1|COHD:140362|GARD:0006733|NCIT:C78350|ICD10:E20|DOID:11199|MESH:D007011 Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. MESH:D007011|SNOMEDCT:36976004|DOID:11199|NCIT:C78350 http://purl.obolibrary.org/obo/MONDO_0001220 hypoparathyroidism, idiopathic (subtype)|parathyroid, underactivity of gard_rare MONDO:0040872 non-psychogenic polydipsia biolink:Disease mondo A form of primary polydipsia not caused by underlying psychiatric symptoms. http://purl.obolibrary.org/obo/MONDO_0040872 idiopathic polydipsia MONDO:0040871 psychogenic polydipsia biolink:Disease mondo SCTID:15945005 A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders. SNOMEDCT:15945005 http://purl.obolibrary.org/obo/MONDO_0040871 psychogenic polydipsia HGNC:24212 CISD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/24212 MONDO:0040870 primary polydipsia biolink:Disease mondo A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink. http://purl.obolibrary.org/obo/MONDO_0040870 MONDO:0013213 CIHL biolink:Disease mondo OMIM:613290 http://identifiers.org/omim/613290 http://purl.obolibrary.org/obo/MONDO_0013213 hearing loss, cisplatin-induced, susceptibility to; CIHL|hearing loss, cisplatin-induced, susceptibility to|CIHL MONDO:0015876 rare vulvovaginal tumor biolink:Disease mondo UMLS:CN200482|Orphanet:180312 UMLS:CN200482|ORPHA:180312 http://purl.obolibrary.org/obo/MONDO_0015876 ordo_group_of_disorders|obsoletion_candidate MONDO:0015875 rare non-malformative uterine adnexal disease biolink:Disease mondo UMLS:CN200481|Orphanet:180303 UMLS:CN200481|ORPHA:180303 http://purl.obolibrary.org/obo/MONDO_0015875 ordo_group_of_disorders|obsoletion_candidate MONDO:0013214 bile acid malabsorption, primary biolink:Disease mondo UMLS:C2750087|MESH:C567652|OMIM:613291 MESH:C567652|UMLS:C2750087|http://identifiers.org/omim/613291 http://purl.obolibrary.org/obo/MONDO_0013214 bile acid malabsorption, primary; PBAM|bile acid malabsorption, primary|PBAM MONDO:0013211 dilated cardiomyopathy 1FF biolink:Disease mondo MESH:C567654|DOID:0110459|OMIM:613286|ICD10:I42.0|UMLS:C2750091 A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42. MESH:C567654|DOID:0110459|UMLS:C2750091|http://identifiers.org/omim/613286 http://purl.obolibrary.org/obo/MONDO_0013211 dilated cardiomyopathy type 1FF|cardiomyopathy, dilated, type 1Ff|CMD1FF|cardiomyopathy, dilated, 1FF; CMD1FF|cardiomyopathy, dilated, 1FF MONDO:0015874 benign ductal tumor of breast biolink:Disease mondo ICD10:D24|UMLS:CN200479|Orphanet:180284 ORPHA:180284|UMLS:CN200479 http://purl.obolibrary.org/obo/MONDO_0015874 ordo_disease MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N biolink:Disease mondo GARD:0012429|UMLS:C4304671|UMLS:C2750090|MESH:C567653|Orphanet:228174|ICD10:G60.0|OMIM:613287|DOID:0110177|SCTID:719515001 Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. MESH:C567653|UMLS:C4304671|DOID:0110177|SNOMEDCT:719515001|UMLS:C2750090|ORPHA:228174|http://identifiers.org/omim/613287 http://purl.obolibrary.org/obo/MONDO_0013212 AARS Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2N|CMT2N|autosomal dominant axonal Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth disease, axonal, type 2N; CMT2N|Charcot-Marie-Tooth disease, axonal, type 2N|Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth neuropathy axonal type 2N|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N|Charcot-Marie-Tooth neuropathy, axonal, type 2N|Charcot-Marie-Tooth disease type 2 caused by mutation in AARS ordo_disease MONDO:0015873 Paget disease of the nipple biolink:Disease mondo GARD:0007303|ONCOTREE:PD|SCTID:403946000|ICD10:C50.0|MedDRA:10033367|UMLS:C1704323|NCIT:C3301|Orphanet:180275 Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses. ORPHA:180275|SNOMEDCT:403946000|MEDDRA:10033367|MESH:D010144|UMLS:C1704323|NCIT:C3301|UMLS:C0030185 http://purl.obolibrary.org/obo/MONDO_0015873 Paget's disease, mammary|PD|Paget disease of the breast|mammary Paget disease|nipple Paget's disease|Paget disease of the nipple|Paget's disease of the nipple|Paget's disease of nipple ordo_disease MONDO:0013217 Diamond-Blackfan anemia 10 biolink:Disease mondo MESH:C567649|UMLS:C2750080|OMIM:613309 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene. http://identifiers.org/omim/613309|MESH:C567649|UMLS:C2750080 http://purl.obolibrary.org/obo/MONDO_0013217 Diamond-Blackfan anemia caused by mutation in RPS26|Diamond-Blackfan anemia 10|Diamond-Blackfan anemia 10; DBA10|DBA10|Diamond-Blackfan Anemia type 10|RPS26 Diamond-Blackfan anemia CL:0002368 respiratory epithelial cell biolink:Cell mondo BTO:0004533 An endo-epithelial cell of the respiratory tract. http://purl.obolibrary.org/obo/CL_0002368 airway epithelial cell MONDO:0015879 non-syndromic diaphragmatic or thoracic malformation biolink:Disease mondo Orphanet:180776 ORPHA:180776 http://purl.obolibrary.org/obo/MONDO_0015879 isolated diaphragmatic or thoracic malformation|nonsyndromic diaphragmatic or thoracic malformation ordo_group_of_disorders MONDO:0013218 exudative vitreoretinopathy 5 biolink:Disease mondo MESH:C567648|UMLS:C2750079|OMIM:613310 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene. http://identifiers.org/omim/613310|MESH:C567648|UMLS:C2750079 http://purl.obolibrary.org/obo/MONDO_0013218 exudative vitreoretinopathy 5|exudative vitreoretinopathy type 5|TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy 5; EVR5|exudative vitreoretinopathy caused by mutation in TSPAN12|EVR5 HGNC:14897 ITPKC biolink:OntologyClass mondo http://identifiers.org/hgnc/14897 MONDO:0013215 autosomal recessive nonsyndromic deafness 79 biolink:Disease mondo ICD10:H90.3|DOID:0110526|UMLS:C2750082|MESH:C567651|OMIM:613307 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene. MESH:C567651|DOID:0110526|UMLS:C2750082|http://identifiers.org/omim/613307 http://purl.obolibrary.org/obo/MONDO_0013215 autosomal recessive nonsyndromic deafness caused by mutation in TPRN|DFNB79|deafness, autosomal recessive type 79|deafness, autosomal recessive 79; DFNB79|autosomal recessive deafness 79|deafness, autosomal recessive 79|TPRN autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 79 clingen MONDO:0015878 obsolete rare disease with autism biolink:Disease mondo UMLS:CN200486|Orphanet:180772 UMLS:CN200486|ORPHA:180772 http://purl.obolibrary.org/obo/MONDO_0015878 ordo_group_of_disorders MONDO:0013216 Diamond-Blackfan anemia 9 biolink:Disease mondo UMLS:C2750081|MESH:C567650|OMIM:613308 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene. http://identifiers.org/omim/613308|MESH:C567650|UMLS:C2750081 http://purl.obolibrary.org/obo/MONDO_0013216 DBA9|RPS10 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 9|Diamond-Blackfan anemia caused by mutation in RPS10|Diamond-Blackfan anemia 9|Diamond-Blackfan anemia 9; DBA9 MONDO:0015877 malformative syndrome with dentinogenesis imperfecta biolink:Disease mondo UMLS:CN200485|Orphanet:180766 UMLS:CN200485|ORPHA:180766 http://purl.obolibrary.org/obo/MONDO_0015877 ordo_group_of_disorders CHEBI:13643 glycol biolink:ChemicalSubstance mondo A diol in which the two hydroxy groups are on different carbon atoms, usually but not necessarily adjacent. http://purl.obolibrary.org/obo/CHEBI_13643 Glykol|glycols GO:0035082 axoneme assembly biolink:OntologyClass mondo The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/GO_0035082 ciliary axoneme assembly|cilium axoneme biogenesis|flagellar axoneme assembly|cilium axoneme assembly|axoneme biogenesis|flagellum axoneme assembly MONDO:0001219 serous conjunctivitis except viral biolink:Disease mondo ICD9:372.01|DOID:11197|ICD10:H10.23|SCTID:9824006|COHD:375266|UMLS:C0155142 SNOMEDCT:9824006|UMLS:C0155142|DOID:11197 http://purl.obolibrary.org/obo/MONDO_0001219 serous conjunctivitis, except viral MONDO:0001218 acute laryngopharyngitis biolink:Disease mondo ICD9:465.0|UMLS:C0155817|ICD10:J06.0|DOID:11195|COHD:23798|SCTID:55355000 An upper respiratory tract disease which involves inflammation of both larynx and pharynx. SNOMEDCT:55355000|DOID:11195|UMLS:C0155817 http://purl.obolibrary.org/obo/MONDO_0001218 MONDO:0015872 giant adenofibroma of the breast biolink:Disease mondo ICD10:D24|Orphanet:180267|UMLS:CN200476 Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement. ORPHA:180267|UMLS:CN200476 http://purl.obolibrary.org/obo/MONDO_0015872 ordo_disease FOODON:03420236 protein extract, concentrate or isolate biolink:OntologyClass mondo Extract, concentrate or isolate high in protein; may contain amino acids, polypeptides and enzymes. http://purl.obolibrary.org/obo/FOODON_03420236 MONDO:0015871 benign breast phyllodes tumor biolink:Disease mondo ICD10:D48.6|ONCOTREE:BPT|MedDRA:10011813|NCIT:C5196|SCTID:720344007|UMLS:C1332533|DOID:1631|Orphanet:180261 A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors. SNOMEDCT:720344007|NCIT:C5196|UMLS:C0010701|DOID:1631|ORPHA:180261|UMLS:C1332533|MEDDRA:10011813 http://purl.obolibrary.org/obo/MONDO_0015871 phyllodes tumor, benign (morphologic abnormality)|BPT|cystosarcoma phyllodes, NOS|benign phyllodes tumor of breast|cystosarcoma phylloide|breast phyllodes tumor, benign|benign phyllodes tumor of the breast|cystosarcoma phyllodes NOS (morphologic abnormality)|phylloide tumor of the breast|breast benign phyllodes neoplasm|benign breast phyllodes tumor|phyllodes neoplasm|cystosarcoma phyllode|phyllode tumor of the breast|cystosarcoma phylloide of the breast|cystosarcoma phyllodes|benign phyllodes neoplasm of breast|benign phyllodes neoplasm of the breast|cystosarcoma phyllode of the breast|phyllodes tumor, benign|benign phyllodes neoplasm|benign cystosarcoma phyllodes ordo_disease MONDO:0013210 autosomal recessive nonsyndromic deafness 25 biolink:Disease mondo UMLS:C1414017|ICD10:H90.3|DOID:0110483|OMIM:613285 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene. DOID:0110483|UMLS:C1414017|http://identifiers.org/omim/613285 http://purl.obolibrary.org/obo/MONDO_0013210 autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1|autosomal recessive nonsyndromic deafness type 25|deafness, autosomal recessive 25; DFNB25|DFNB25|deafness, autosomal recessive type 25|autosomal recessive deafness 25|GRXCR1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 25 clingen FOODON:03420237 floret or flower biolink:OntologyClass mondo The pigmented blossom of a plant that contains the reproductive organs; a floret is a single flower of a multiple flowered inflorescence. Also includes flower buds. http://purl.obolibrary.org/obo/FOODON_03420237 MONDO:0015870 obsolete rare malignant breast tumor biolink:Disease mondo Orphanet:180257|UMLS:CN200474 Any of the forms of breast cancer that have a rare incidence. UMLS:CN200474|ORPHA:180257 http://purl.obolibrary.org/obo/MONDO_0015870 rare breast cancer ordo_group_of_disorders|obsoletion_candidate UBERON:8000006 left side of back biolink:AnatomicalEntity mondo Left part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. http://purl.obolibrary.org/obo/UBERON_8000006 UBERON:8000007 right side of back biolink:AnatomicalEntity mondo Right part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. http://purl.obolibrary.org/obo/UBERON_8000007 MONDO:0001235 appendix cancer biolink:Disease mondo NCIT:C9333|DOID:11239|ICD9:153.5|ICD10:C18.1|UMLS:C0496779|COHD:443383|SCTID:363411007 A malignant neoplasm involving the vermiform appendix SNOMEDCT:363411007|NCIT:C9333|DOID:11239|UMLS:C0496779 http://purl.obolibrary.org/obo/MONDO_0001235 cancer of the appendix|malignant neoplasm of vermiform appendix|malignant neoplasm of appendix vermiformis|malignant tumor of appendix|vermiform appendix cancer|malignant appendix neoplasm|malignant tumor of the appendix|malignant neoplasm of appendix|malignant vermiform appendix neoplasm|cancer of vermiform appendix|malignant appendix tumor|malignant neoplasm of the appendix MONDO:0003898 pediatric myxoid chondrosarcoma biolink:Disease mondo NCIT:C27377|UMLS:C1332984|DOID:6494 A myxoid chondrosarcoma occurring in children. UMLS:C1332984|NCIT:C27377|DOID:6494 http://purl.obolibrary.org/obo/MONDO_0003898 pediatric myxoid chondrosarcoma|childhood myxoid chondrosarcoma|myxoid chondrosarcoma of childhood MONDO:0001234 adhesive otitis media biolink:Disease mondo ICD10:H74.1|COHD:375820|ICD9:385.10|DOID:11235|ICD9:385.1|UMLS:C0155478|SCTID:7699004 An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. UMLS:C0155478|DOID:11235|SNOMEDCT:7699004 http://purl.obolibrary.org/obo/MONDO_0001234 adhesive middle ear disease|chronic adhesive otitis media|adhesive otitis media|fibrotic adhesive otitis media MONDO:0003899 adult myxoid chondrosarcoma biolink:Disease mondo UMLS:C1332209|NCIT:C27378|DOID:6495 A myxoid chondrosarcoma occurring in adults. NCIT:C27378|DOID:6495|UMLS:C1332209 http://purl.obolibrary.org/obo/MONDO_0003899 adult myxoid chondrosarcoma|myxoid chondrosarcoma of adults MONDO:0001233 orbital tenonitis biolink:Disease mondo SCTID:8976003|COHD:141022|DOID:11233|UMLS:C0155259|ICD9:376.04 UMLS:C0155259|DOID:11233|SNOMEDCT:8976003 http://purl.obolibrary.org/obo/MONDO_0001233 tenonitis HGNC:26887 TAPT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26887 MONDO:0001232 orbital osteomyelitis biolink:Disease mondo SCTID:65875003|ICD10:H05.02|DOID:11232|ICD9:376.03|UMLS:C0155258 UMLS:C0155258|DOID:11232|SNOMEDCT:65875003 http://purl.obolibrary.org/obo/MONDO_0001232 orbital osteomyelitis GO:0106064 regulation of cobalamin metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/GO_0106064 MONDO:0003894 mediastinal melanocytic neurilemmoma biolink:Disease mondo DOID:6484|UMLS:C1334668|NCIT:C6635 A melanotic schwannoma that affects the mediastinum. NCIT:C6635|UMLS:C1334668|DOID:6484 http://purl.obolibrary.org/obo/MONDO_0003894 melanocytic schwannoma of mediastinum|melanocytic schwannoma of the mediastinum|mediastinal melanocytic schwannoma|melanocytic neurilemmoma of the mediastinum|melanocytic neurilemmoma of mediastinum|mediastinal melanotic schwannoma MONDO:0001239 anemia of prematurity biolink:Disease mondo UMLS:C0158996|NCIT:C97167|ICD9:776.6|COHD:432452|DOID:11243|SCTID:47100003|ICD10:P61.2 A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. SNOMEDCT:47100003|UMLS:C0158996|DOID:11243|NCIT:C97167 http://purl.obolibrary.org/obo/MONDO_0001239 AOP MONDO:0003895 periosteal osteogenic sarcoma biolink:Disease mondo NCIT:C8970|DOID:6489|ICDO:9193/3|UMLS:C1377843|ONCOTREE:PEOS An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma. NCIT:C8970|UMLS:C1377843|DOID:6489 http://purl.obolibrary.org/obo/MONDO_0003895 periosteal osteosarcoma|PEOS|periosteal osteogenic sarcoma|juxtacortical chondroblastic osteosarcoma|periosteal osteosarcoma (morphologic abnormality) MONDO:0001238 polycythemia neonatorum biolink:Disease mondo ICD10:P61.1|COHD:439140|SCTID:32984002|ICD9:776.4|NCIT:C27069|UMLS:C0272153|DOID:11242 A condition in which the red blood cell level is greater than established reference ranges in a newborn. NCIT:C27069|DOID:11242|SNOMEDCT:32984002|UMLS:C0272153 http://purl.obolibrary.org/obo/MONDO_0001238 plethora of newborn|neonatal polycythemia|polycythemia neonatorum|polycythemia of the newborn MONDO:0003896 breast capillary hemangioma biolink:Disease mondo NCIT:C5210|UMLS:C1332619|DOID:6491 A capillary hemangioma arising from the breast. UMLS:C1332619|NCIT:C5210|DOID:6491 http://purl.obolibrary.org/obo/MONDO_0003896 breast capillary angioma|capillary angioma of breast|breast capillary hemangioma|capillary angioma of the breast|capillary hemangioma of breast|capillary hemangioma of the breast MONDO:0001237 appendix lymphoma biolink:Disease mondo NCIT:C5513|UMLS:C1332328|DOID:11241 A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare. UMLS:C1332328|DOID:11241|NCIT:C5513 http://purl.obolibrary.org/obo/MONDO_0001237 lymphoma of the appendix|primary appendix lymphoma|appendiceal lymphoma|lymphoma of vermiform appendix|vermiform appendix lymphoma|appendix lymphoma|lymphoma of appendix MONDO:0003897 breast epithelioid hemangioma biolink:Disease mondo UMLS:C1332627|NCIT:C5211|DOID:6492 A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast. UMLS:C1332627|NCIT:C5211|DOID:6492 http://purl.obolibrary.org/obo/MONDO_0003897 histiocytoid hemangioma of the breast|epithelioid breast hemangioma|epithelioid hemangioma of breast|epithelioid hemangioma of the breast|breast epithelioid hemangioma|histiocytoid breast hemangioma|breast histiocytoid hemangioma|histiocytoid hemangioma of breast UBERON:0012490 muscle layer of anal canal biolink:AnatomicalEntity mondo A muscular coat that is part of a anal canal. http://purl.obolibrary.org/obo/UBERON_0012490 muscular coat of anal canal|anal muscularis propria|muscularis externa of anal canal|anal canal muscularis propria|muscularis propria of anal canal|muscular layer of anal canal HGNC:24229 CIDEC biolink:OntologyClass mondo http://identifiers.org/hgnc/24229 MONDO:0001236 appendiceal neoplasm biolink:Disease mondo NCIT:C4434|UMLS:C0003614|EFO:0003880|SCTID:126846004|MESH:D001063|DOID:11240 A benign or malignant neoplasm involving the appendix. DOID:11240|NCIT:C4434|UMLS:C0003614|MESH:D001063|SNOMEDCT:126846004 http://purl.obolibrary.org/obo/MONDO_0001236 neoplasm of appendix|vermiform appendix neoplasm|appendix tumor|neoplasm of the appendix|tumor of vermiform appendix|appendix neoplasm|vermiform appendix neoplasm (disease)|tumor of appendix|neoplasm of vermiform appendix|tumor of the appendix|vermiform appendix tumor MONDO:0003890 infiltrating bladder urothelial carcinoma biolink:Disease mondo NCIT:C27885|DOID:6477|UMLS:C1334281 An invasive transitional cell carcinoma that arises from the urinary bladder urothelium. NCIT:C27885|UMLS:C1334281|DOID:6477 http://purl.obolibrary.org/obo/MONDO_0003890 infiltrating transitional cell carcinoma of the urinary bladder|invasive transitional cell carcinoma of the urinary bladder|invasive bladder transitional cell carcinoma|invasive bladder urothelial carcinoma|infiltrating bladder urothelial carcinoma|invasive bladder transitional cell carcinoma|infiltrating transitional cell carcinoma of the urinary bladder MONDO:0003891 bladder signet ring cell adenocarcinoma biolink:Disease mondo UMLS:C1332563|DOID:6481|NCIT:C6163 A signet ring cell carcinoma that involves the urinary bladder. NCIT:C6163|DOID:6481|UMLS:C1332563 http://purl.obolibrary.org/obo/MONDO_0003891 signet Ring cell adenocarcinoma of the bladder|signet Ring cell adenocarcinoma of bladder|urinary bladder signet ring cell carcinoma|urinary bladder signet Ring adenocarcinoma|bladder signet ring cell adenocarcinoma|signet Ring cell adenocarcinoma of the urinary bladder|signet ring cell adenocarcinoma of bladder|signet Ring cell adenocarcinoma of urinary bladder MONDO:0003892 acinar lung adenocarcinoma biolink:Disease mondo DOID:6482|NCIT:C5649|UMLS:C1332137 A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05) NCIT:C5649|DOID:6482|UMLS:C1332137 http://purl.obolibrary.org/obo/MONDO_0003892 lung acinar adenocarcinoma|acinar adenocarcinoma of the lung|acinar lung adenocarcinoma|acinar adenocarcinoma of lung MONDO:0015859 rare non-malformative uterovaginal or vulvovaginal disease biolink:Disease mondo UMLS:CN200461|Orphanet:180205 ORPHA:180205|UMLS:CN200461 http://purl.obolibrary.org/obo/MONDO_0015859 obsoletion_candidate|ordo_group_of_disorders MONDO:0003893 rete testis adenoma biolink:Disease mondo DOID:6483|UMLS:C1514910|NCIT:C39956 A benign epithelial neoplasm arising from the rete testis. NCIT:C39956|DOID:6483|UMLS:C1514910 http://purl.obolibrary.org/obo/MONDO_0003893 adenoma, rete testis, benign|rete testis adenoma MONDO:0001231 orbital periostitis biolink:Disease mondo UMLS:C0155257|SCTID:65974003|ICD10:H05.03|DOID:11231|ICD9:376.02|COHD:442634 SNOMEDCT:65974003|UMLS:C0155257|DOID:11231 http://purl.obolibrary.org/obo/MONDO_0001231 MONDO:0001230 acute orbital inflammation biolink:Disease mondo ICD9:376.0|COHD:433486|ICD10:H05.00|ICD10:H05.0|DOID:11230|SCTID:20551005|ICD9:376.00 DOID:11230|SNOMEDCT:20551005 http://purl.obolibrary.org/obo/MONDO_0001230 acute inflammation of orbit UBERON:0012499 serosa of uterine tube biolink:AnatomicalEntity mondo A serous membrane that is part of a fallopian tube. http://purl.obolibrary.org/obo/UBERON_0012499 serosa of fallopian tube|serosa of oviduct|tunica serosa (tuba uterina)|uterine tubal serosa|uterine tube serosa|tunica serosa tubae uterinae|serous coat of uterine tube UBERON:0012498 serosa of appendix biolink:AnatomicalEntity mondo A serous membrane that is part of a vermiform appendix. http://purl.obolibrary.org/obo/UBERON_0012498 serosa of vermiform appendix|visceral peritoneum of vermiform appendix|appendix serosa|appendiceal serosa MONDO:0015865 obsolete benign tumor of fallopian tubes biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015865 MONDO:0013202 Waardenburg syndrome type 4C biolink:Disease mondo MESH:C567679|OMIM:613266|DOID:0110955|UMLS:C2750452 A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10. MESH:C567679|UMLS:C2750452|DOID:0110955|http://identifiers.org/omim/613266 http://purl.obolibrary.org/obo/MONDO_0013202 Waardenburg syndrome, type 4C|Waardenburg syndrome with Hirschsprung disease, type 4C|Waardenburg syndrome with Hirschsprung disease type 4C|WS4C|Waardenburg syndrome type IVC|Waardenburg syndrome, type 4C; WS4C MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 biolink:Disease mondo OMIM:613267|UMLS:C2750451 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene. http://identifiers.org/omim/613267|UMLS:C2750451 http://purl.obolibrary.org/obo/MONDO_0013203 corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 3; FECD3|Fcd2 locus|corneal dystrophy, Fuchs endothelial, 3|corneal dystrophy, Fuchs endothelial, type 3|TCF4 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in TCF4|FECD3 MONDO:0015864 mixed germ cell tumor biolink:Disease mondo NCIT:C4290|ICDO:9085/3|Orphanet:180234|UMLS:C0334524|DOID:3306 A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum. ORPHA:180234|DOID:3306|NCIT:C4290|UMLS:C0334524 http://purl.obolibrary.org/obo/MONDO_0015864 combined germ cell tumor|mixed teratoma and seminoma|combined germ cell neoplasm|mixed germ cell cancer|mixed germ cell neoplasm|mixed germ cell tumor|mixed germ cell tumour ordo_disease MONDO:0013200 hypertrophic cardiomyopathy 15 biolink:Disease mondo UMLS:C2750459|MESH:C567681|OMIM:613255|DOID:0110321 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. MESH:C567681|DOID:0110321|UMLS:C2750459|http://identifiers.org/omim/613255 http://purl.obolibrary.org/obo/MONDO_0013200 cardiomyopathy, familial hypertrophic, 15; CMH15|CMH15|cardiomyopathy, familial hypertrophic, type 15|VCL hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 15|cardiomyopathy familial hypertrophic 15|hypertrophic cardiomyopathy type 15|hypertrophic cardiomyopathy caused by mutation in VCL MONDO:0015863 polyembryoma biolink:Disease mondo UMLS:C0334518|Orphanet:180229|GARD:0009621|NCIT:C66776 Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known. ORPHA:180229|UMLS:C0334518|NCIT:C66776 http://purl.obolibrary.org/obo/MONDO_0015863 gonadal polyembryoma gard_rare|ordo_disease MONDO:0013201 Waardenburg syndrome type 4B biolink:Disease mondo UMLS:C2750457|OMIM:613265|DOID:0110954|MESH:C567680 A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3. MESH:C567680|DOID:0110954|UMLS:C2750457|http://identifiers.org/omim/613265 http://purl.obolibrary.org/obo/MONDO_0013201 Waardenburg syndrome, type 4B; WS4B|Waardenburg syndrome, type 4B|Waardenburg syndrome with Hirschsprung disease type 4B|EDN3 Waardenburg syndrome|WS4B|Waardenburg syndrome type IVB|Waardenburg syndrome, type 4B, with Hirschsprung disease|Waardenburg syndrome caused by mutation in EDN3 MONDO:0015862 obsolete embryonal carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015862 MONDO:0015869 obsolete rare benign breast tumor biolink:Disease mondo Orphanet:180253 Any of the forms of breast benign neoplasm that have a rare incidence. ORPHA:180253 http://purl.obolibrary.org/obo/MONDO_0015869 rare breast benign neoplasm obsoletion_candidate|ordo_group_of_disorders MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 biolink:Disease mondo OMIM:613270|UMLS:C2750448 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. http://identifiers.org/omim/613270|UMLS:C2750448 http://purl.obolibrary.org/obo/MONDO_0013206 FECD6|ZEB1 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 6; FECD6|corneal dystrophy, Fuchs endothelial, 6|corneal dystrophy, Fuchs endothelial, type 6|Fuchs' endothelial dystrophy caused by mutation in ZEB1 MONDO:0015868 obsolete rare breast tumor biolink:Disease mondo Orphanet:180250 Any of the forms of breast neoplasm that have a rare incidence. ORPHA:180250 http://purl.obolibrary.org/obo/MONDO_0015868 rare breast neoplasm|rare breast cancer obsoletion_candidate|ordo_group_of_disorders MONDO:0013207 FECD7 biolink:Disease mondo OMIM:613271|UMLS:C2750447 http://identifiers.org/omim/613271|UMLS:C2750447 http://purl.obolibrary.org/obo/MONDO_0013207 corneal dystrophy, Fuchs endothelial, 7|Fcd4 locus|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 7; FECD7|FECD7 MONDO:0015867 vaginal carcinoma biolink:Disease mondo ICD10:C52|NCIT:C3917|UMLS:C0262659|DOID:0050918|Orphanet:180247 A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas. NCIT:C3917|ORPHA:180247|DOID:0050918|UMLS:C0262659 http://purl.obolibrary.org/obo/MONDO_0015867 carcinoma of vagina|vagina carcinoma|carcinoma of the vagina|vagina cancer|vaginal cancer, NOS|cancer of vagina|cancer of the vagina|vaginal carcinoma|vaginal malignant epithelial tumor|vaginal cancer ordo_disease MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 biolink:Disease mondo OMIM:613268|UMLS:C2750450 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene. http://identifiers.org/omim/613268|UMLS:C2750450 http://purl.obolibrary.org/obo/MONDO_0013204 corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 4; FECD4|SLC4A11 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, 4|corneal dystrophy, Fuchs endothelial, type 4|Fuchs' endothelial dystrophy caused by mutation in SLC4A11|FECD4 MONDO:0015866 obsolete malignant tumor of fallopian tubes biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015866 MONDO:0013205 FECD5 biolink:Disease mondo UMLS:C2750449|OMIM:613269 http://identifiers.org/omim/613269|UMLS:C2750449 http://purl.obolibrary.org/obo/MONDO_0013205 corneal dystrophy, Fuchs endothelial, late-onset|Fcd3 locus|corneal dystrophy, Fuchs endothelial, 5; FECD5|FECD5|corneal dystrophy, Fuchs endothelial, 5 NCBITaxon:2072716 Spiruromorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2072716 MONDO:0001229 small intestine diverticulitis biolink:Disease mondo SCTID:56165008|UMLS:C0156164|ICD9:562.02|COHD:193239|DOID:11223|ICD9:562.01 A diverticulitis that involves the small intestine. UMLS:C0156164|DOID:11223|SNOMEDCT:56165008 http://purl.obolibrary.org/obo/MONDO_0001229 diverticulosis of small intestine with hemorrhage|small intestine diverticulitis|diverticulitis of small intestine MONDO:0015861 rare uterine adnexal tumor biolink:Disease mondo UMLS:CN200464|Orphanet:180220 UMLS:CN200464|ORPHA:180220 http://purl.obolibrary.org/obo/MONDO_0015861 syn: Rare tumor of ovaries and fallopian tubes ordo_group_of_disorders|obsoletion_candidate CL:0002371 somatic cell biolink:Cell mondo WBbt:0008378|FMA:72300|BTO:0001268 A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). http://purl.obolibrary.org/obo/CL_0002371 _upper_level CL:0002370 respiratory goblet cell biolink:Cell mondo A simple columnar epithelial cell that secretes mucin. Rough endoplasmic reticulum, mitochondria, the nucleus, and other organelles are concentrated in the basal portion. The apical plasma membrane projects microvilli to increase surface area for secretion. http://purl.obolibrary.org/obo/CL_0002370 respiratory mucosa goblet cells MONDO:0015860 anomaly of puberty or/and menstrual cycle biolink:Disease mondo Orphanet:180208 ORPHA:180208 http://purl.obolibrary.org/obo/MONDO_0015860 ordo_group_of_disorders FOODON:03420228 extract, concentrate or isolate of plant or animal biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=C0228 A physical-chemical component separated from the food source or its parts by extraction, centrifugation, filtration, heat processing, expressing or a similar process. The separated component may be converted through further processing. If this is done, the final substance is indexed. A water-extracted component may remain in aqueous dispersion. The extract, concentrate or isolate is indexed in preference to the anatomic part from which it is derived. For example, peanut oil is indexed under *PEANUT* combined wih *FAT OR OIL* rather than with *SEED OR KERNEL*. On the other hand, fruit and vegetable juices can be indexed under *FRUIT JUICE OR NECTAR* or *VEGETABLE JUICE* (A. PRODUCT TYPE); therefore the anatomic part of the plant should be indexed. http://purl.obolibrary.org/obo/FOODON_03420228 NCBITaxon:480118 Eremoneura organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_480118 NCBITaxon:480117 Cyclorrhapha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_480117 MONDO:0001289 obsolete endometriosis of ovary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001289 MONDO:0001288 endometriosis of rectovaginal septum and vagina biolink:Disease mondo NCIT:C128064|DOID:11431|UMLS:C0156346|ICD10:N80.4|SCTID:198253003|ICD9:617.4|COHD:196739 Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina. DOID:11431|NCIT:C128064|UMLS:C0156346|SNOMEDCT:198253003 http://purl.obolibrary.org/obo/MONDO_0001288 vaginal endometriosis MONDO:0001287 endometriosis in cutaneous scar biolink:Disease mondo DOID:11430|COHD:139882|SCTID:53913001|ICD10:N80.6|UMLS:C0156348|ICD9:617.6 DOID:11430|SNOMEDCT:53913001|UMLS:C0156348 http://purl.obolibrary.org/obo/MONDO_0001287 scar endometriosis|endometriosis in scar of skin MONDO:0001282 fallopian tube endometriosis biolink:Disease mondo NCIT:C26763|COHD:194420|UMLS:C0014177|DOID:11424|ICD10:N80.2|ICD9:617.2|SCTID:22611009 Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse. UMLS:C0014177|SNOMEDCT:22611009|DOID:11424|NCIT:C26763 http://purl.obolibrary.org/obo/MONDO_0001282 endometriosis (disease) of fallopian tube|fallopian tube endometriosis|fallopian tube endometriosis (disease)|endometriosis of fallopian tube MONDO:0001281 alternating exotropia biolink:Disease mondo UMLS:C0152207|SCTID:37214009|ICD9:378.15|DOID:1142|ICD10:H50.15|COHD:377561 A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction. UMLS:C0152207|SNOMEDCT:37214009|DOID:1142 http://purl.obolibrary.org/obo/MONDO_0001281 MONDO:0001280 choroiditis biolink:Disease mondo NCIT:C35111|Orphanet:280892|ICD10:H30.2|UMLS:C0042167|ICD10:H30.1|ICD10:H30.0|DOID:11406|GARD:0006062|SCTID:16553002|MESH:D002833|MedDRA:10036370|ICD10:H30.9|UMLS:C0008526|HP:0012123|ICD10:H30.8 An inflammatory process that affects the choroid. NCIT:C35111|SNOMEDCT:16553002|MEDDRA:10036370|UMLS:C0042167|MESH:D002833|UMLS:C0008526|DOID:11406|ORPHA:280892 http://purl.obolibrary.org/obo/MONDO_0001280 posterior uveitis|choroiditis|Choroiditides|posterior uveitis (disease) ordo_group_of_disorders HP:0032158 Unusual infection by anatomical site biolink:PhenotypicFeature mondo An unusual infection classified by the affected body part. http://purl.obolibrary.org/obo/HP_0032158 MONDO:0001286 exotropia biolink:Disease mondo SCTID:399252000|COHD:377294|UMLS:C0015310|ICD9:378.10|ICD10:H50.1|MESH:D005099|DOID:1143|ICD9:378.1|ICD10:H50.10|NCIT:C34601 A form of strabismus in which the eyes are deviated laterally. SNOMEDCT:399252000|UMLS:C0015310|NCIT:C34601|MESH:D005099|DOID:1143 http://purl.obolibrary.org/obo/MONDO_0001286 divergent concomitant strabismus|divergent strabismus MONDO:0001285 endometriosis of pelvic peritoneum biolink:Disease mondo SCTID:198251001|ICD9:617.3|DOID:11429|COHD:197033|ICD10:N80.3|UMLS:C0156345 UMLS:C0156345|SNOMEDCT:198251001|DOID:11429 http://purl.obolibrary.org/obo/MONDO_0001285 MONDO:0001284 endometriosis of intestine biolink:Disease mondo ICD9:617.5|COHD:194421|DOID:11428|SCTID:5562006|UMLS:C0156347|ICD10:N80.5 Endometriosis that affects the intesines. SNOMEDCT:5562006|UMLS:C0156347|DOID:11428 http://purl.obolibrary.org/obo/MONDO_0001284 intestine endometriosis (disease)|endometriosis (disease) of intestine HP:0032154 Aphthous ulcer biolink:PhenotypicFeature mondo Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. http://purl.obolibrary.org/obo/HP_0032154 Canker sore MONDO:0001283 endosalpingiosis biolink:Disease mondo DOID:11427|SCTID:55850004|UMLS:C0269106|NCIT:C40121 A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain. NCIT:C40121|SNOMEDCT:55850004|DOID:11427|UMLS:C0269106 http://purl.obolibrary.org/obo/MONDO_0001283 endosalpingiosis MONDO:0013279 long QT syndrome 13 biolink:Disease mondo UMLS:C3150733|ICD10:I45.8|OMIM:613485|DOID:0110654 Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene. http://identifiers.org/omim/613485|UMLS:C3150733|DOID:0110654 http://purl.obolibrary.org/obo/MONDO_0013279 KCNJ5 long QT syndrome|long QT syndrome type 13|long QT syndrome caused by mutation in KCNJ5|long QT syndrome 13|LQT13|long QT syndrome 13; LQT13 CL:0002344 CD56-negative, CD161-positive immature natural killer cell, human biolink:Cell mondo A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-negative, CD117-positive, CD122-positive,and CD161-positive. http://purl.obolibrary.org/obo/CL_0002344 p-NK MONDO:0013277 developmental and epileptic encephalopathy, 5 biolink:Disease mondo UMLS:C3150731|OMIM:613477 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene. http://identifiers.org/omim/613477|UMLS:C3150731 http://purl.obolibrary.org/obo/MONDO_0013277 epileptic encephalopathy, early infantile, 5; EIEE5|early infantile epileptic encephalopathy caused by mutation in SPTAN1|epileptic encephalopathy, early infantile, type 5|DEE5|SPTAN1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 5|EIEE5 MONDO:0013278 lymphedema, hereditary, 1C biolink:Disease mondo DOID:0070208|OMIM:613480|UMLS:C3150732 Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene. DOID:0070208|http://identifiers.org/omim/613480|UMLS:C3150732 http://purl.obolibrary.org/obo/MONDO_0013278 LMPH1C|lymphedema, hereditary, IC|GJC2 hereditary lymphedema|lymphedema, hereditary, type 1C|hereditary lymphedema caused by mutation in GJC2|lymphedema, hereditary, IC; LMPH1C MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome biolink:Disease mondo OMIM:613456|Orphanet:306542|GARD:0012640|UMLS:C3150706 ORPHA:306542|http://identifiers.org/omim/613456|UMLS:C3150706 http://purl.obolibrary.org/obo/MONDO_0013271 frontonasal dysplasia type 3|frontonasal dysplasia 3; FND3|ALX1-related frontonasal dysplasia|FND3|frontonasal dysplasia 3 gard_rare|ordo_malformation_syndrome MONDO:0013272 chromosome 14q11-q22 deletion syndrome biolink:Disease mondo ICD10:Q93.5|Orphanet:261120|OMIM:613457|UMLS:C3150707|SCTID:719047001|UMLS:C4304999|DOID:0060392 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. ORPHA:261120|http://identifiers.org/omim/613457|SNOMEDCT:719047001|UMLS:C4304999|UMLS:C3150707|DOID:0060392 http://purl.obolibrary.org/obo/MONDO_0013272 14q11.2 microdeletion syndrome|Del(14)(q11.2)|monosomy 14q11.2|chromosome 14q11-q22 deletion syndrome ordo_malformation_syndrome HGNC:14872 ASPN biolink:OntologyClass mondo http://identifiers.org/hgnc/14872 MONDO:0013270 Rett syndrome, congenital variant biolink:Disease mondo OMIM:613454|UMLS:C3150705 http://identifiers.org/omim/613454|UMLS:C3150705 http://purl.obolibrary.org/obo/MONDO_0013270 Rett syndrome, congenital variant MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency biolink:Disease mondo Orphanet:712|GARD:0002502|UMLS:C3150730|ICD10:D55.2|OMIM:613470|UMLS:CN072763 Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia. http://identifiers.org/omim/613470|ORPHA:712|UMLS:C3150730|UMLS:CN072763 http://purl.obolibrary.org/obo/MONDO_0013275 glucosephosphate isomerase deficiency|hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency gard_rare|ordo_disease MONDO:0013276 Reynolds syndrome biolink:Disease mondo Orphanet:779|ICD10:K74.3|UMLS:C0748397|SCTID:715401008|OMIM:613471|ICD10:L94.0|GARD:0004697 Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). SNOMEDCT:715401008|http://identifiers.org/omim/613471|UMLS:C0748397|ORPHA:779 http://purl.obolibrary.org/obo/MONDO_0013276 primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia|Reynolds syndrome gard_rare|ordo_disease MONDO:0013273 chromosome 16p13.3 duplication syndrome biolink:Disease mondo SCTID:733473000|ICD10:Q92.3|GARD:0010755|Orphanet:96078|UMLS:C4518796|DOID:0060431|OMIM:613458|UMLS:C3150708 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems. UMLS:C4518796|http://identifiers.org/omim/613458|ORPHA:96078|SNOMEDCT:733473000|UMLS:C3150708|DOID:0060431 http://purl.obolibrary.org/obo/MONDO_0013273 telomeric duplication 16p|16p13.3 microduplication syndrome|trisomy 16pter|chromosome 16p13.3 duplication syndrome|16p13.3 duplication|dup(16)(p13.3)|interstitial 16p13.3 duplication|distal trisomy 16p|chromosome 16p13.3 duplication|distal duplication 16p gard_rare|ordo_malformation_syndrome MONDO:0013274 retinitis pigmentosa 51 biolink:Disease mondo DOID:0110398|UMLS:C3150715|ICD10:H35.5|OMIM:613464 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene. http://identifiers.org/omim/613464|DOID:0110398|UMLS:C3150715 http://purl.obolibrary.org/obo/MONDO_0013274 retinitis pigmentosa caused by mutation in TTC8|RP51|retinitis pigmentosa 51|retinitis pigmentosa 51; RP51|TTC8 retinitis pigmentosa|retinitis pigmentosa type 51 MONDO:0001299 diabetic autonomic neuropathy biolink:Disease mondo UMLS:C0271686|SCTID:50620007|NCIT:C27068|DOID:11503|ICD9:337.1 Autonomic neuropathy that is caused by diabetes mellitus. UMLS:C0271686|NCIT:C27068|SNOMEDCT:50620007|DOID:11503 http://purl.obolibrary.org/obo/MONDO_0001299 NCBITaxon:203490 Fusobacteriia organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_203490 Fusobacteria MONDO:0001298 congenital mitral valve insufficiency biolink:Disease mondo SCTID:29928006|MESH:D008944|ICD10:Q23.3|NCIT:C50888|UMLS:C0158619|DOID:11502|ICD9:396.3|ICD9:746.6 Dysfunction of the mitral valve characterized by incomplete valve closure. UMLS:C0158619|NCIT:C50888|MESH:D008944|SNOMEDCT:29928006|DOID:11502 http://purl.obolibrary.org/obo/MONDO_0001298 mitral valve incompetence|congenital mitral insufficiency|mitral valve insufficiency|congenital mitral regurgitation|mitral regurgitation|insufficiency, mitral|mitral insufficiency|congenital insufficiency of mitral valve MONDO:0001293 subglottis cancer biolink:Disease mondo DOID:11472|UMLS:C0153485|NCIT:C3546|ICD9:161.2|SCTID:363430007|ICD10:C32.2 A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. SNOMEDCT:363430007|NCIT:C3546|DOID:11472|UMLS:C0153485 http://purl.obolibrary.org/obo/MONDO_0001293 cancer of subglottis|Ca larynx - subglottis|subglottis cancer|malignant tumor of subglottis|malignant tumor of the subglottis|malignant subglottic tumor|malignant neoplasm of subglottis|malignant subglottis neoplasm|malignant subglottis tumor|malignant neoplasm of the subglottis|malignant subglottic neoplasm MONDO:0001292 autonomic nervous system disease biolink:Disease mondo MESH:D001342|SCTID:15241006|COHD:434633|SCTID:128123007|ICD9:337.1|DOID:11465|ICD9:337.9 A disease involving the autonomic nervous system. MESH:D001342|SNOMEDCT:128123007|DOID:11465|SNOMEDCT:15241006 http://purl.obolibrary.org/obo/MONDO_0001292 autonomic dysfunction, segmental|segmental autonomic dysfunction|disorder of peripheral autonomic nervous system|autonomic peripheral nervous system diseases|autonomic nervous system disorders|nervous system diseases, autonomic|segmental autonomic dysfunctions|autonomic nervous system disease or disorder|peripheral autonomic nervous system diseases|nervous system diseases, sympathetic|autonomic nervous system disorder|disorder of autonomic nervous system|autonomic central nervous system diseases|central autonomic nervous system diseases|autonomic dysfunctions, segmental|autonomic disease|disease of autonomic nervous system|ANS disease|autonomic nervous disease|disease or disorder of autonomic nervous system|ANS (autonomic nervous system) diseases|disorder of autonomic nervous system|dysautonomia|disorders of the autonomic nervous system|ANS diseases|autonomic nervous system disease|autonomic diseases HP:0032169 Severe infection biolink:PhenotypicFeature mondo A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. http://purl.obolibrary.org/obo/HP_0032169 Unusual course of infection MONDO:0001291 brain compression biolink:Disease mondo ICD10:G93.5|DOID:11457|SCTID:46963008|UMLS:C0009592|COHD:377550|ICD9:348.4 UMLS:C0009592|DOID:11457|SNOMEDCT:46963008 http://purl.obolibrary.org/obo/MONDO_0001291 MONDO:0001290 allergic cutaneous vasculitis biolink:Disease mondo NCIT:C35119|DOID:11450 Inflammation of the small vessels of the skin that is mediated by the immune system. NCIT:C35119|DOID:11450 http://purl.obolibrary.org/obo/MONDO_0001290 allergic cutaneous angiitis|autoimmune hypersensitivity angiitis NCBITaxon:203491 Fusobacteriales organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_203491 MONDO:0001297 cardiac tamponade biolink:Disease mondo MESH:D002305|ICD10:I31.4|ICD9:423.3|NCIT:C50481|SCTID:35304003|COHD:318450|EFO:1001285|DOID:115|UMLS:C0007177 Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion. MESH:D002305|DOID:115|SNOMEDCT:35304003|NCIT:C50481|UMLS:C0007177 http://purl.obolibrary.org/obo/MONDO_0001297 rose's tamponade|pericardial tamponade HGNC:24200 FAM111B biolink:OntologyClass mondo http://identifiers.org/hgnc/24200 MONDO:0001296 acquired night blindness biolink:Disease mondo ICD10:H53.62|COHD:376978|DOID:11491|ICD9:368.62|SCTID:53808001 An instance of night blindness that is acquired during the lifetime of the individual. SNOMEDCT:53808001|DOID:11491 http://purl.obolibrary.org/obo/MONDO_0001296 acquired night blindness NCBITaxon:203492 Fusobacteriaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_203492 MONDO:0001295 idiopathic peripheral autonomic neuropathy biolink:Disease mondo ICD9:337.0|ICD9:337.00|SCTID:86489003|UMLS:C0154690|ICD10:G90.09|COHD:194913|DOID:11488|ICD10:G90.0 DOID:11488|UMLS:C0154690|SNOMEDCT:86489003 http://purl.obolibrary.org/obo/MONDO_0001295 MONDO:0001294 Horner syndrome biolink:Disease mondo ICD10:G90.2|ICD9:337.09|GARD:0006670|SCTID:192915005|MESH:D006732|NCIT:C28155|DOID:11486 Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause. SNOMEDCT:192915005|NCIT:C28155|MESH:D006732|DOID:11486 http://purl.obolibrary.org/obo/MONDO_0001294 Horner's syndrome|Horner syndrome|oculosympathetic palsy|cervical sympathetic paralysis|Bernard Horner syndrome|Bernard-Horner syndrome gard_rare MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly biolink:Disease mondo ICD10:Q87.0|SCTID:725029001|OMIM:613451|GARD:0012641|UMLS:C3150703|Orphanet:228390 Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. ORPHA:228390|http://identifiers.org/omim/613451|SNOMEDCT:725029001|UMLS:C3150703 http://purl.obolibrary.org/obo/MONDO_0013268 frontonasal dysplasia type 2|FND2|frontonasal dysplasia 2; FND2|ALX4-related FNDAG|frontonasal dysplasia 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism ordo_malformation_syndrome|gard_rare HGNC:14889 DNAJB11 biolink:OntologyClass mondo http://identifiers.org/hgnc/14889 MONDO:0013269 autosomal recessive nonsyndromic deafness 91 biolink:Disease mondo ICD10:H90.3|OMIM:613453|DOID:0110536|UMLS:C3150704 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene. http://identifiers.org/omim/613453|DOID:0110536|UMLS:C3150704 http://purl.obolibrary.org/obo/MONDO_0013269 autosomal recessive deafness 91|deafness, autosomal recessive 91; DFNB91|autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6|DFNB91|deafness, autosomal recessive type 91|SERPINB6 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 91|deafness, autosomal recessive 91 clingen MONDO:0013266 intellectual disability, autosomal dominant 20 biolink:Disease mondo OMIM:613443|UMLS:C3150700|DOID:0070050 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene. DOID:0070050|http://identifiers.org/omim/613443|UMLS:C3150700 http://purl.obolibrary.org/obo/MONDO_0013266 MRD20|intellectual disability, autosomal dominant type 20|MEF2C autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant type 20|mental retardation, autosomal dominant 20; MRD20|intellectual disability, autosomal dominant 20; MRD20|chromosome 5Q14.3 deletion syndrome, proximal|intellectual disability, autosomal dominant 20|autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations|intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations|autosomal dominant intellectual disability 20|autosomal dominant mental retardation 20|mental retardation, autosomal dominant 20 MONDO:0013267 distal 16p11.2 microdeletion syndrome biolink:Disease mondo UMLS:C3150701|SCTID:733521003|UMLS:C4518824|OMIM:613444|ICD10:Q93.5|Orphanet:261222|DOID:0060398 Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. DOID:0060398|ORPHA:261222|UMLS:C4518824|http://identifiers.org/omim/613444|SNOMEDCT:733521003|UMLS:C3150701 http://purl.obolibrary.org/obo/MONDO_0013267 chromosome 16p11.2 deletion syndrome, 220-KB|obesity, susceptibility to|distal monosomy 16p11.2|chromosome 16p11.2 deletion syndrome, 220kb|distal del(16)(p11.2)|body Mass index quantitative trait locus 16|distal 16p11.2 microdeletion syndrome|chromosome 16p11.2 deletion syndrome, type 220kb ordo_malformation_syndrome HGNC:14888 DNAJB6 biolink:OntologyClass mondo http://identifiers.org/hgnc/14888 MONDO:0013260 EOE2 biolink:Disease mondo UMLS:C3150679|OMIM:613412 http://identifiers.org/omim/613412|UMLS:C3150679 http://purl.obolibrary.org/obo/MONDO_0013260 esophagitis, eosinophilic, 2; EOE2|EOE2|esophagitis, eosinophilic, 2 HGNC:14881 ZEB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/14881 MONDO:0013261 dilated cardiomyopathy 1R biolink:Disease mondo ICD10:I42.0|OMIM:613424|DOID:0110456 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. http://identifiers.org/omim/613424|DOID:0110456 http://purl.obolibrary.org/obo/MONDO_0013261 cardiomyopathy, dilated, type 1R|cardiomyopathy, dilated, 1R|dilated cardiomyopathy type 1R|left ventricular noncompaction 4|ACTC1 familial isolated dilated cardiomyopathy|CMD1R|familial isolated dilated cardiomyopathy caused by mutation in ACTC1|cardiomyopathy, dilated, 1R; CMD1R GO:0035051 cardiocyte differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual. http://purl.obolibrary.org/obo/GO_0035051 cardiac cell differentiation|heart cell differentiation MONDO:0013264 amyotrophic lateral sclerosis type 12 biolink:Disease mondo OMIM:613435|DOID:0060203|UMLS:C3150692 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene. http://identifiers.org/omim/613435|UMLS:C3150692|DOID:0060203 http://purl.obolibrary.org/obo/MONDO_0013264 amyotrophic lateral sclerosis 12; ALS12|amyotrophic lateral sclerosis type 12|OPTN amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in OPTN|ALS12|amyotrophic lateral sclerosis 12 MONDO:0013265 autism, susceptibility to, 17 biolink:Disease mondo OMIM:613436 http://identifiers.org/omim/613436 http://purl.obolibrary.org/obo/MONDO_0013265 susceptibility to autism 17|autism, susceptibility to, 17|autism, susceptibility to, 17; AUTS17|AUTS17|autism, susceptibility to, type 17 predisposition MONDO:0013262 dilated cardiomyopathy 1S biolink:Disease mondo DOID:0110454|MESH:C563538|ICD10:I42.0|GARD:0012832|OMIM:613426 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. http://identifiers.org/omim/613426|DOID:0110454|MESH:C563538 http://purl.obolibrary.org/obo/MONDO_0013262 cardiomyopathy, dilated, 1S|cardiomyopathy, dilated, 1S; CMD1S|dilated cardiomyopathy-1S|cardiomyopathy, dilated, type 1S|MYH7 familial isolated dilated cardiomyopathy|left ventricular noncompaction 5|dilated cardiomyopathy type 1S|CMD1S|familial isolated dilated cardiomyopathy caused by mutation in MYH7 gard_rare CL:0002351 progenitor cell of endocrine pancreas biolink:Cell mondo A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. http://purl.obolibrary.org/obo/CL_0002351 pancreatic endocrine progenitor|pancreatic islet progenitor cell MONDO:0013263 retinitis pigmentosa 54 biolink:Disease mondo UMLS:C3150691|DOID:0110364|OMIM:613428|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene. http://identifiers.org/omim/613428|DOID:0110364|UMLS:C3150691 http://purl.obolibrary.org/obo/MONDO_0013263 retinitis pigmentosa type 54|PCARE retinitis pigmentosa|RP54|retinitis pigmentosa caused by mutation in PCARE|retinitis pigmentosa 54; RP54|retinitis pigmentosa 54 HGNC:14880 GTPBP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/14880 MONDO:0001268 gingival recession biolink:Disease mondo ICD9:523.20|ICD9:523.2|COHD:134386|MESH:D005889|SCTID:59898000|UMLS:C0266916|ICD9:523.24|UMLS:C0017572|ICD9:523.23|ICD10:K06.0|ICD9:523.22|DOID:1134|ICD9:523.21 A loss of gum tissue resulting in an exposure of the roots of the teeth. DOID:1134|UMLS:C0017572|MESH:D005889|NCIT:C82068|SNOMEDCT:59898000|UMLS:C0266916 http://purl.obolibrary.org/obo/MONDO_0001268 gingival recession|localized gingival recession|gingival recession, localized|gingival recession, unspecified|minimal gingival recession|moderate gingival recession|severe gingival recession MONDO:0001267 obsolete Lemierre syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001267 obsolete Lemierre's syndrome MONDO:0001266 erysipelas biolink:Disease mondo COHD:138346|ICD10:A46|HP:0001055|DOID:11330|GARD:0006370|UMLS:C0014733|ICD9:035|MESH:D004886|EFO:1001462|SCTID:44653001 An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch. DOID:11330|MESH:D004886|UMLS:C0014733|SNOMEDCT:44653001 http://purl.obolibrary.org/obo/MONDO_0001266 gard_rare MONDO:0001265 schizophreniform disorder biolink:Disease mondo NCIT:C94376|SCTID:88975006|ICD9:295.4|ICD10:F20.81|DOID:11328|COHD:444434 A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning. DOID:11328|SNOMEDCT:88975006|NCIT:C94376 http://purl.obolibrary.org/obo/MONDO_0001265 GO:0106016 positive regulation of inflammatory response to wounding biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the inflammatory response to wounding. http://purl.obolibrary.org/obo/GO_0106016 GO:0106015 negative regulation of inflammatory response to wounding biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding. http://purl.obolibrary.org/obo/GO_0106015 HGNC:26837 AMER1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26837 GO:0106014 regulation of inflammatory response to wounding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the inflammatory response to wounding. http://purl.obolibrary.org/obo/GO_0106014 MONDO:0001269 scleral disease biolink:Disease mondo MESH:D015422|SCTID:33064008|ICD10:H15.9|NCIT:C79717|DOID:11343|UMLS:C0036412|ICD9:379.19|ICD10:H15 A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare. UMLS:C0036412|DOID:11343|SNOMEDCT:33064008|NCIT:C79717|MESH:D015422 http://purl.obolibrary.org/obo/MONDO_0001269 scleral disorder|disease of sclera|disorder of sclera|disease or disorder of sclera|sclera disorder|sclera disease|sclera disease or disorder|disorder of sclera MONDO:0001260 cercarial dermatitis biolink:Disease mondo ICD9:120.3|ICD9:709.8|SCTID:238534006|NCIT:C128349|UMLS:C4282208|UMLS:C0546996|ICD10:B65.3|GARD:0009747|DOID:11302 An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin. DOID:11302|SNOMEDCT:238534006|UMLS:C0546996|NCIT:C128349|UMLS:C4282208 http://purl.obolibrary.org/obo/MONDO_0001260 lake Itch|cutaneous schistosomiasis|Sea bather's eruption|duck Itch|swimmer's itch gard_rare CL:0002328 bronchial epithelial cell biolink:Cell mondo BTO:0002922 An epithelial cell of the bronchus. http://purl.obolibrary.org/obo/CL_0002328 GO:0023061 signal release biolink:OntologyClass mondo The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. http://purl.obolibrary.org/obo/GO_0023061 signal secretion MONDO:0001264 obsolete Kyasanur forest disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001264 MONDO:0001263 histoplasmosis retinitis biolink:Disease mondo UMLS:C0153278|SCTID:187058000|ICD9:115.92|DOID:11316 An retinitis caused by infection with Histoplasma capsulatum. DOID:11316|SNOMEDCT:187058000|UMLS:C0153278 http://purl.obolibrary.org/obo/MONDO_0001263 Histoplasma capsulatum caused retinitis|Histoplasma capsulatum retinitis|histoplasmosis with retinitis MONDO:0001262 African histoplasmosis biolink:Disease mondo UMLS:C0220977|ICD9:115.10|SCTID:78511005|DOID:11315 An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii. DOID:11315|UMLS:C0220977|SNOMEDCT:78511005 http://purl.obolibrary.org/obo/MONDO_0001262 Histoplasma duboisii infection|large form histoplasmosis|infection by Histoplasma duboisii|Histoplasma capsulatum var. duboisii infectious disease|Histoplasma capsulatum var. duboisii caused disease or disorder|Histoplasma capsulatum var. duboisii disease or disorder|African histoplasmosis MONDO:0001261 Mobitz type II atrioventricular block biolink:Disease mondo DOID:11312|ICD9:426.12|COHD:313780|SCTID:28189009|UMLS:C0155700|NCIT:C62018 A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC) DOID:11312|UMLS:C0155700|SNOMEDCT:28189009|NCIT:C62018 http://purl.obolibrary.org/obo/MONDO_0001261 AV block second degree Mobitz type II|Möbitz II|type 2 2nd degree AV block|type II second degree atrioventricular block|second degree atrioventricular block Mobitz type II|Mobitz type II second degree AV block|Mobitz II atrioventricular block|Mobitz (type) II atrioventricular block|type II second degree AV block|AV block second degree Möbitz type II|Mobitz II|type 2 second degree AV block|Möbitz type II second degree AV block|second degree atrioventricular block Möbitz type II CL:0002320 connective tissue cell biolink:Cell mondo FMA:63875|CALOHA:TS-2096 A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. http://purl.obolibrary.org/obo/CL_0002320 MONDO:0013257 LPRS6 biolink:Disease mondo OMIM:613407 http://identifiers.org/omim/613407 http://purl.obolibrary.org/obo/MONDO_0013257 leprosy, susceptibility to, 6|LPRS6|leprosy, susceptibility to, 6; LPRS6 predisposition MONDO:0013258 autism, susceptibility to, 16 biolink:Disease mondo OMIM:613410 http://identifiers.org/omim/613410 http://purl.obolibrary.org/obo/MONDO_0013258 AUTS16|susceptibility to autism 16|autism, susceptibility to, 16|autism, susceptibility to, 16; AUTS16|autism, susceptibility to, type 16|autism with or without seizures predisposition HGNC:14857 COG5 biolink:OntologyClass mondo http://identifiers.org/hgnc/14857 MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 biolink:Disease mondo OMIM:613404|UMLS:C3150672 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. http://identifiers.org/omim/613404|UMLS:C3150672 http://purl.obolibrary.org/obo/MONDO_0013255 arthrogryposis, renal dysfunction, and cholestasis type 2|ARCS2|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39|arthrogryposis, renal dysfunction, and cholestasis 2|arthrogryposis, renal dysfunction, and cholestasis 2; ARCS2|VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0013256 chromosome 15q24 deletion syndrome biolink:Disease mondo SCTID:699308002|Orphanet:94065|DOID:0060395|UMLS:CN237818|OMIM:613406|ICD10:Q93.5|MESH:C579849|GARD:0012219|UMLS:C3150674 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. DOID:0060395|ORPHA:94065|SNOMEDCT:699308002|http://identifiers.org/omim/613406|MESH:C579849|UMLS:CN237818|UMLS:C3150674 http://purl.obolibrary.org/obo/MONDO_0013256 WITKOS|monosomy 15q24|Del(15)(q24)|15q24 microdeletion syndrome|chromosome 15q24 deletion syndrome|Witteveen-Kolk syndrome; WITKOS|chromosome 15Q24 Duplication syndrome|Witteveen-Kolk syndrome ordo_malformation_syndrome CL:0002321 embryonic cell biolink:Cell mondo FMA:82841|FMA:82840|WBbt:0007028|CALOHA:TS-0263 A cell of the embryo. http://purl.obolibrary.org/obo/CL_0002321 MONDO:0013259 Oguchi disease-2 biolink:Disease mondo UMLS:C3150678|OMIM:613411|DOID:0110713 Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene. UMLS:C3150678|DOID:0110713|http://identifiers.org/omim/613411 http://purl.obolibrary.org/obo/MONDO_0013259 GRK1 Oguchi disease|Oguchi disease 2|Oguchi disease type 2|congenital stationary night blindness Oguchi type 2|CSNBO2|Oguchi disease caused by mutation in GRK1|night blindness, congenital stationary, Oguchi type 2 MONDO:0013250 autosomal recessive nonsyndromic deafness 85 biolink:Disease mondo DOID:0110531|ICD10:H90.3|OMIM:613392|UMLS:C3160740 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2. UMLS:C3160740|http://identifiers.org/omim/613392|DOID:0110531 http://purl.obolibrary.org/obo/MONDO_0013250 deafness, autosomal recessive 85|deafness, autosomal recessive 85; DFNB85|autosomal recessive deafness 85|autosomal recessive nonsyndromic deafness type 85|DFNB85 MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 biolink:Disease mondo OMIM:613399 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene. http://identifiers.org/omim/613399 http://purl.obolibrary.org/obo/MONDO_0013253 breast-ovarian cancer, familial, susceptibility to, 3; BROVCA3|breast-ovarian cancer, familial, susceptibility to, type 3|hereditary breast ovarian cancer syndrome caused by mutation in Rad51C|hereditary breast ovarian cancer syndrome caused by mutation in RAD51C|RAD51C hereditary breast ovarian cancer syndrome|Rad51C hereditary breast ovarian cancer syndrome|breast cancer, familial, susceptibility to, 3|ovarian cancer, familial, susceptibility to, 3|BROVCA3|breast-ovarian cancer, familial, susceptibility to, 3|susceptibility to familial breast-ovarian cancer 3 predisposition MONDO:0013254 microcephaly, seizures, and developmental delay biolink:Disease mondo UMLS:C3150667|GARD:0010933|OMIM:613402|Orphanet:228418 ORPHA:228418|http://identifiers.org/omim/613402|UMLS:C3150667 http://purl.obolibrary.org/obo/MONDO_0013254 microcephaly - seizures - developmental delay|epileptic encephalopathy, early infantile, 10|MCSZ|microcephaly, seizures, and developmental delay; MCSZ|EIEE10|microcephaly, seizures, and developmental delay|early infantile epileptic encephalopathy-10 gard_rare MONDO:0013251 Birbeck granule deficiency biolink:Disease mondo OMIM:613393|UMLS:C3150657 http://identifiers.org/omim/613393|UMLS:C3150657 http://purl.obolibrary.org/obo/MONDO_0013251 Birbeck granules, absence of|Birbeck granule deficiency MONDO:0013252 Warsaw breakage syndrome biolink:Disease mondo ICD9:759.89|SCTID:702829000|OMIM:613398|Orphanet:280558|DOID:0060535|UMLS:C3150658 A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. DOID:0060535|ORPHA:280558|SNOMEDCT:702829000|http://identifiers.org/omim/613398|UMLS:C3150658 http://purl.obolibrary.org/obo/MONDO_0013252 WABS|Warsaw breakage syndrome|WARSAW breakage syndrome; WABS ordo_malformation_syndrome MONDO:0001279 intraspinal meningioma biolink:Disease mondo DOID:1140|UMLS:C1334264|NCIT:C5134 A meningioma that arises from the spinal meninges. NCIT:C5134|DOID:1140|UMLS:C1334264 http://purl.obolibrary.org/obo/MONDO_0001279 meningioma of spinal canal and spinal cord|meningioma of the spinal canal and spinal cord|intraspinal meningioma|spinal canal and spinal cord meningioma GO:0023056 positive regulation of signaling biolink:OntologyClass mondo Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/GO_0023056 positive regulation of signaling process|positive regulation of signalling process MONDO:0001278 obsolete adult respiratory distress syndrome biolink:Disease mondo A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA. http://purl.obolibrary.org/obo/MONDO_0001278 MONDO:0001277 cerebral arteritis biolink:Disease mondo COHD:380747|SCTID:28366008|ICD9:437.4|UMLS:C0007773|DOID:11390 An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery. SNOMEDCT:28366008|DOID:11390|UMLS:C0007773 http://purl.obolibrary.org/obo/MONDO_0001277 cerebral artery inflammation|inflammation of cerebral artery MONDO:0001276 expressive language disorder biolink:Disease mondo ICD9:315.31|DOID:11385|ICD10:F80.1|NCIT:C92562|SCTID:229733002|COHD:4047124 A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). DOID:11385|NCIT:C92562|SNOMEDCT:229733002 http://purl.obolibrary.org/obo/MONDO_0001276 expressive language disorder|developmental expressive language disorder GO:0023057 negative regulation of signaling biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/GO_0023057 negative regulation of signalling process|negative regulation of signaling process HP:0032180 Abnormal circulating metabolite concentration biolink:PhenotypicFeature mondo An abnormal level of an analyte measured in the blood. http://purl.obolibrary.org/obo/HP_0032180 MONDO:0001271 lens subluxation (disease) biolink:Disease mondo ICD10:H27.11|HP:0001132|DOID:11364|MESH:D007906|NCIT:C34772|SCTID:65814009|ICD9:379.32|COHD:376123|UMLS:C0023316 A partial dislocation of the lens of the eye. SNOMEDCT:65814009|NCIT:C34772|UMLS:C0023316|MESH:D007906|DOID:11364 http://purl.obolibrary.org/obo/MONDO_0001271 subluxation of lens|lens subluxation MONDO:0001270 stone in bladder diverticulum biolink:Disease mondo DOID:11354|SCTID:18109005|ICD10:N21.0|ICD9:594.0|UMLS:C0156265|COHD:192965 UMLS:C0156265|SNOMEDCT:18109005|DOID:11354 http://purl.obolibrary.org/obo/MONDO_0001270 calculus in diverticulum of bladder CL:0002338 CD56-positive, CD161-positive immature natural killer cell, human biolink:Cell mondo A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-positive, CD117-positive, CD122-positive,and CD161-positive. http://purl.obolibrary.org/obo/CL_0002338 p-NK MONDO:0001275 spinal meningioma biolink:Disease mondo UMLS:C0347515|DOID:1138|NCIT:C6935|SCTID:189167009|GARD:0010264 Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent. NCIT:C6935|SNOMEDCT:189167009|UMLS:C0347515|DOID:1138 http://purl.obolibrary.org/obo/MONDO_0001275 meningioma of the spinal cord|meningioma of spinal cord|meningioma, spine|spinal cord meningioma (disease)|meningioma (disease) of spinal cord|spinal cord meningioma gard_rare GO:0023052 signaling biolink:OntologyClass mondo The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. http://purl.obolibrary.org/obo/GO_0023052 single organism signaling|signalling|biological signaling|signaling process|signalling process MONDO:0001274 anal spasm biolink:Disease mondo ICD9:564.6|ICD10:K59.4|DOID:11374|COHD:134404|UMLS:C0152167|SCTID:17440005 DOID:11374|SNOMEDCT:17440005|UMLS:C0152167 http://purl.obolibrary.org/obo/MONDO_0001274 GO:0023051 regulation of signaling biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/GO_0023051 regulation of signaling process|regulation of signalling process MONDO:0001273 megacolon biolink:Disease mondo MESH:D008531|DOID:11372|NCIT:C34810|SCTID:33995003|ICD9:564.7|ICD10:K59.3 An abnormal dilation of the colon not due to obstruction. DOID:11372|SNOMEDCT:33995003|MESH:D008531|NCIT:C34810 http://purl.obolibrary.org/obo/MONDO_0001273 dilatation of colon MONDO:0001272 functional diarrhea biolink:Disease mondo UMLS:C0156173|ICD10:K59.1|DOID:11371|COHD:80141|ICD9:564.5|SCTID:47812002 SNOMEDCT:47812002|UMLS:C0156173|DOID:11371 http://purl.obolibrary.org/obo/MONDO_0001272 MONDO:0013246 NAFLD2 biolink:Disease mondo OMIM:613387 http://identifiers.org/omim/613387 http://purl.obolibrary.org/obo/MONDO_0013246 fatty liver disease, nonalcoholic, susceptibility to, 2; NAFLD2|fatty liver disease, nonalcoholic, susceptibility to, 2|NAFLD2 predisposition HGNC:14867 APOL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/14867 MONDO:0013247 Fanconi renotubular syndrome 2 biolink:Disease mondo OMIM:613388|UMLS:C3150652 Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. UMLS:C3150652|http://identifiers.org/omim/613388 http://purl.obolibrary.org/obo/MONDO_0013247 Fanconi renotubular syndrome 2|FRTS2|Fanconi renotubular syndrome type 2|Fanconi syndrome caused by mutation in SLC34A1|SLC34A1 Fanconi syndrome|Fanconi renotubular syndrome 2; FRTS2 MONDO:0013244 brachydactyly type E2 biolink:Disease mondo UMLS:C3150644|OMIM:613382|DOID:0110976 Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene. UMLS:C3150644|DOID:0110976|http://identifiers.org/omim/613382 http://purl.obolibrary.org/obo/MONDO_0013244 BDE2|PTHLH brachydactyly type E|brachydactyly, type E2|brachydactyly type E caused by mutation in PTHLH|brachydactyly, type E2; BDE2 CL:0002333 neural crest derived fat cell biolink:Cell mondo A fat cell derived from a neural crest cell. http://purl.obolibrary.org/obo/CL_0002333 MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency biolink:Disease mondo Orphanet:228426|OMIM:613385|GARD:0010775|UMLS:C3150649 UMLS:C3150649|ORPHA:228426|http://identifiers.org/omim/613385 http://purl.obolibrary.org/obo/MONDO_0013245 syndromic multisystem autoimmune disease|autoimmune disease, multisystem, with facial dysmorphism|autoimmune disease, multisystem, with facial dysmorphism; ADMFD|ADMFD|autoimmune disease, syndromic multisystem|ITCH E3 ubiquitin ligase deficiency ordo_disease|gard_rare CL:0002332 ciliated cell of the bronchus biolink:Cell mondo A ciliated cell of the bronchus. http://purl.obolibrary.org/obo/CL_0002332 MONDO:0013248 Fanconi anemia complementation group O biolink:Disease mondo UMLS:C3150653|OMIM:613390|DOID:0111096 Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. UMLS:C3150653|http://identifiers.org/omim/613390|DOID:0111096 http://purl.obolibrary.org/obo/MONDO_0013248 FANCO|Fanconi Anemia, complementation group type O|Fanconi anemia caused by mutation in RAD51C|Fanconi anemia caused by mutation in Rad51C|Fanconi anemia, complementation group O; FANCO|Fanconi anemia, complementation group O|RAD51C Fanconi anemia|Rad51C Fanconi anemia|Fanconi anemia complementation group type O MONDO:0013249 autosomal recessive nonsyndromic deafness 84A biolink:Disease mondo UMLS:C3150654|OMIM:613391|ICD10:H90.3|DOID:0110529 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene. UMLS:C3150654|DOID:0110529|http://identifiers.org/omim/613391 http://purl.obolibrary.org/obo/MONDO_0013249 autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ|deafness, autosomal recessive 84|DFNB84A|autosomal recessive deafness 84A with vestibular dysfunction|deafness, autosomal recessive type 84A|autosomal recessive deafness 84A|deafness, autosomal recessive 84A, with vestibular dysfunction|autosomal recessive nonsyndromic deafness type 84A|deafness, autosomal recessive 84A; DFNB84A|PTPRQ autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 84A NCBITaxon:37989 Xylariales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_37989 Sphaeriales NCBITaxon:37987 Pneumocystidales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_37987 NCBITaxon:35324 unclassified Orthomyxoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_35324 MONDO:0013242 maturity-onset diabetes of the young type 11 biolink:Disease mondo SCTID:609578001|UMLS:C3150618|OMIM:613375|DOID:0111109 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene. http://identifiers.org/omim/613375|SNOMEDCT:609578001|DOID:0111109|UMLS:C3150618 http://purl.obolibrary.org/obo/MONDO_0013242 MODY11|BLK maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 11; MODY11|maturity-onset diabetes of the young, type 11|maturity-onset diabetes of the young (disease) caused by mutation in BLK NCBITaxon:35325 dsRNA viruses organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_35325 dsRNA nonenveloped viruses MONDO:0013243 neuronopathy, distal hereditary motor, type 2C biolink:Disease mondo OMIM:613376|UMLS:C3150619 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene. UMLS:C3150619|http://identifiers.org/omim/613376 http://purl.obolibrary.org/obo/MONDO_0013243 neuronopathy, distal hereditary motor, type IIC|HSPB3 neuronopathy, distal hereditary motor|HMN 2C|neuronopathy, distal hereditary motor caused by mutation in HSPB3|neuronopathy, distal hereditary motor, type IIC; HMN2C|HMN2C|neuropathy, distal hereditary motor, type 2C MONDO:0013240 maturity-onset diabetes of the young type 10 biolink:Disease mondo OMIM:613370|UMLS:C3150617|SCTID:609577006|DOID:0111108 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene. http://identifiers.org/omim/613370|DOID:0111108|SNOMEDCT:609577006|UMLS:C3150617 http://purl.obolibrary.org/obo/MONDO_0013240 INS maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 10|maturity-onset diabetes of the young, type 10; MODY10|MODY10|maturity-onset diabetes of the young (disease) caused by mutation in INS MONDO:0013241 spinocerebellar ataxia type 30 biolink:Disease mondo GARD:0004950|ICD10:G11.2|UMLS:C4304845|DOID:0050979|SCTID:719253007|OMIM:613371|Orphanet:211017|MESH:C575214|UMLS:C2936793 Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia. MESH:C575214|SNOMEDCT:719253007|http://identifiers.org/omim/613371|MESH:C537206|UMLS:C2936793|UMLS:C4304845|ORPHA:211017|DOID:0050979 http://purl.obolibrary.org/obo/MONDO_0013241 spinocerebellar ataxia 30|spinocerebellar ataxia 30; SCA30|SCA30|spinocerebellar ataxia type 30 gard_rare|ordo_disease MONDO:0003700 brachial plexus neoplasm biolink:Disease mondo UMLS:C1332602|NCIT:C5823|DOID:5913 A neoplasm (disease) that involves the brachial nerve plexus. NCIT:C5823|UMLS:C1332602|DOID:5913 http://purl.obolibrary.org/obo/MONDO_0003700 neoplasm of brachial nerve plexus|brachial nerve plexus tumor|neoplasm of the brachial plexus|neoplasm of brachial plexus|brachial plexus tumor|brachial nerve plexus neoplasm|brachial plexus neoplasms|tumor of the brachial plexus|tumor of brachial nerve plexus|brachial plexus neoplasm|tumor of brachial plexus|brachial nerve plexus neoplasm (disease) MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma biolink:Disease mondo ICDO:8350/3|UMLS:C1321862|DOID:5914|NCIT:C7427|UMLS:C0334330 A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. UMLS:C0334330|UMLS:C1321862|DOID:5914|NCIT:C7427 http://purl.obolibrary.org/obo/MONDO_0003701 nonencapsulated sclerosing carcinoma|papillary carcinoma, diffuse sclerosing|nonencapsulated sclerosing tumor|thyroid gland diffuse sclerosing papillary carcinoma|nonencapsulated sclerosing papillary thyroid carcinoma|nonencapsulated sclerosing adenocarcinoma|nonencapsulated sclerosing neoplasm MONDO:0003702 uterus intravascular leiomyomatosis biolink:Disease mondo DOID:5915|NCIT:C5356 A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma. NCIT:C5356|DOID:5915 http://purl.obolibrary.org/obo/MONDO_0003702 intravenous leiomyomatosis of uterus|intravascular leiomyomatosis of uterus|intravenous leiomyomatosis of the uterus|intravascular leiomyomatosis of the uterus|uterine corpus intravenous leiomyomatosis|uterus intravenous leiomyomatosis MONDO:0003703 obsolete uterine corpus leiomyomatosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003703 GO:0001810 regulation of type I hypersensitivity biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of type I hypersensitivity, a type of inflammatory response. http://purl.obolibrary.org/obo/GO_0001810 HGNC:9865 RARB biolink:OntologyClass mondo http://identifiers.org/hgnc/9865 GO:0001819 positive regulation of cytokine production biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of production of a cytokine. http://purl.obolibrary.org/obo/GO_0001819 upregulation of cytokine production|positive regulation of cytokine biosynthetic process|up-regulation of cytokine production|positive regulation of cytokine secretion|up regulation of cytokine production|activation of cytokine production|stimulation of cytokine production HGNC:7208 MPDZ biolink:OntologyClass mondo http://identifiers.org/hgnc/7208 HGNC:14951 PPP1R15B biolink:OntologyClass mondo http://identifiers.org/hgnc/14951 HGNC:7207 MPDU1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7207 GO:0001816 cytokine production biolink:OntologyClass mondo The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0001816 interferon secretion|cytokine secretion|interleukin production|cytokine metabolic process|interleukin secretion|cytokine biosynthetic process|interferon production HGNC:26929 CDIN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26929 GO:0001817 regulation of cytokine production biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of production of a cytokine. http://purl.obolibrary.org/obo/GO_0001817 regulation of cytokine biosynthesis|regulation of cytokine anabolism|regulation of cytokine synthesis|regulation of cytokine formation|regulation of cytokine biosynthetic process|regulation of cytokine secretion GO:0001818 negative regulation of cytokine production biolink:OntologyClass mondo Any process that stops, prevents, or reduces the rate of production of a cytokine. http://purl.obolibrary.org/obo/GO_0001818 down regulation of cytokine production|negative regulation of cytokine secretion|inhibition of cytokine biosynthetic process|downregulation of cytokine biosynthetic process|inhibition of cytokine production|downregulation of cytokine production|negative regulation of cytokine biosynthetic process|negative regulation of cytokine anabolism|negative regulation of cytokine biosynthesis|negative regulation of cytokine synthesis|down-regulation of cytokine biosynthetic process|down-regulation of cytokine production|down regulation of cytokine biosynthetic process|negative regulation of cytokine formation HGNC:26927 FOXRED1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26927 GO:0001811 negative regulation of type I hypersensitivity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the rate of type I hypersensitivity, a type of inflammatory response. http://purl.obolibrary.org/obo/GO_0001811 down regulation of type I hypersensitivity|inhibition of type I hypersensitivity|downregulation of type I hypersensitivity|down-regulation of type I hypersensitivity HGNC:9863 RAPSN biolink:OntologyClass mondo http://identifiers.org/hgnc/9863 GO:0001812 positive regulation of type I hypersensitivity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of type I hypersensitivity, a type of inflammatory response. http://purl.obolibrary.org/obo/GO_0001812 upregulation of type I hypersensitivity|up-regulation of type I hypersensitivity|up regulation of type I hypersensitivity|activation of type I hypersensitivity|stimulation of type I hypersensitivity HGNC:9864 RARA biolink:OntologyClass mondo http://identifiers.org/hgnc/9864 HGNC:26944 TMEM138 biolink:OntologyClass mondo http://identifiers.org/hgnc/26944 CHEBI:50523 butenolide biolink:ChemicalSubstance mondo A gamma-lactone that consists of a 2-furanone skeleton and its substituted derivatives. http://purl.obolibrary.org/obo/CHEBI_50523 furan-2-one|2-furanone|butenolides MONDO:0003711 obsolete malignant peripheral nerve sheath tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003711 MONDO:0003712 angiokeratoma of mibelli biolink:Disease mondo NCIT:C3927|SCTID:62727008|DOID:5948|UMLS:C0263640 NCIT:C3927|DOID:5948|SNOMEDCT:62727008|UMLS:C0263640 http://purl.obolibrary.org/obo/MONDO_0003712 GO:0001820 serotonin secretion biolink:OntologyClass mondo The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. http://purl.obolibrary.org/obo/GO_0001820 5-HT secretion|serotonin release|5-hydroxytryptamine secretion MONDO:0003713 angiokeratoma circumscriptum biolink:Disease mondo DOID:5949|SCTID:21848000|UMLS:C0263638|NCIT:C7751 SNOMEDCT:21848000|DOID:5949|UMLS:C0263638|NCIT:C7751 http://purl.obolibrary.org/obo/MONDO_0003713 GO:0001821 histamine secretion biolink:OntologyClass mondo The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. http://purl.obolibrary.org/obo/GO_0001821 MONDO:0003714 bladder urachal squamous cell carcinoma biolink:Disease mondo UMLS:C1511206|DOID:5957|NCIT:C39845 NCIT:C39845|DOID:5957|UMLS:C1511206 http://purl.obolibrary.org/obo/MONDO_0003714 bladder urachal squamous cell carcinoma MONDO:0003710 ovarian mixed germ cell neoplasm biolink:Disease mondo DOID:5936|ONCOTREE:OMGCT|UMLS:C0280135|NCIT:C8114 An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor. NCIT:C8114|DOID:5936|UMLS:C0280135 http://purl.obolibrary.org/obo/MONDO_0003710 ovary mixed germ cell tumor|mixed germ cell tumor|mixed germ cell tumor of ovary|mixed germ cell tumor of the ovary|mixed germ cell neoplasm of the ovary|mixed germ cell neoplasm of ovary|ovarian mixed germ cell neoplasm|ovarian mixed germ cell tumor HP:0032368 Acidemia biolink:PhenotypicFeature mondo An abnormally low blood pH (usually defined as less than 7.35). http://purl.obolibrary.org/obo/HP_0032368 CHEBI:25585 nonmetal atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25585 nonmetal|nonmetals|Nichtmetall|non-metaux|no metal|non-metal|no metales|nonmetal|Nichtmetalle NCBITaxon:1314886 Neobalantidium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1314886 HGNC:12303 TRIO biolink:OntologyClass mondo http://identifiers.org/hgnc/12303 HGNC:14966 PXDN biolink:OntologyClass mondo http://identifiers.org/hgnc/14966 HGNC:9879 RASGRP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9879 HGNC:7217 MPL biolink:OntologyClass mondo http://identifiers.org/hgnc/7217 HGNC:7216 MPI biolink:OntologyClass mondo http://identifiers.org/hgnc/7216 HGNC:7218 MPO biolink:OntologyClass mondo http://identifiers.org/hgnc/7218 HGNC:14963 GPR101 biolink:OntologyClass mondo http://identifiers.org/hgnc/14963 HGNC:12305 TRIP11 biolink:OntologyClass mondo http://identifiers.org/hgnc/12305 MONDO:0003708 extrahepatic bile duct small cell adenocarcinoma biolink:Disease mondo UMLS:C1335979|DOID:5926|NCIT:C5845 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells. NCIT:C5845|UMLS:C1335979|DOID:5926 http://purl.obolibrary.org/obo/MONDO_0003708 Oat cell carcinoma of the extrahepatic bile duct|extrahepatic bile duct small cell neuroendocrine carcinoma|Oat cell extrahepatic bile duct carcinoma|small cell extrahepatic bile duct carcinoma|extrahepatic bile duct small cell NEC|small cell adenocarcinoma of extrahepatic bile duct|small cell adenocarcinoma of the extrahepatic bile duct|small cell extrahepatic bile duct neuroendocrine carcinoma|Oat cell carcinoma of extrahepatic bile duct HGNC:9870 RARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9870 MONDO:0003709 agoraphobia biolink:Disease mondo SCTID:70691001|NCIT:C34362|ICD10:F40.0|DOID:593|ICD10:F40.00|EFO:1001872|MESH:D000379 An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop. SNOMEDCT:70691001|NCIT:C34362|DOID:593|MESH:D000379 http://purl.obolibrary.org/obo/MONDO_0003709 fear of open spaces (finding)|fear of open spaces HGNC:9871 RASA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9871 HGNC:26938 HIKESHI biolink:OntologyClass mondo http://identifiers.org/hgnc/26938 MONDO:0003704 uterine corpus diffuse leiomyomatosis biolink:Disease mondo NCIT:C40170|DOID:5916|DOID:5917|UMLS:C1519855 An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus. UMLS:C1519855|NCIT:C40170|DOID:5917|DOID:5916 http://purl.obolibrary.org/obo/MONDO_0003704 body of uterus leiomyomatosis|leiomyomatosis of body of uterus|uterine corpus leiomyomatosis|uterine corpus diffuse leiomyomatosis MONDO:0003705 adult brainstem mixed glioma biolink:Disease mondo DOID:5921|UMLS:C1377915|NCIT:C9371 UMLS:C1377915|NCIT:C9371|DOID:5921 http://purl.obolibrary.org/obo/MONDO_0003705 adult brain stem mixed glioma|adult brainstem mixed glioma MONDO:0003706 adult brainstem astrocytoma biolink:Disease mondo NCIT:C6954|UMLS:C1332191|DOID:5922 NCIT:C6954|UMLS:C1332191|DOID:5922 http://purl.obolibrary.org/obo/MONDO_0003706 adult brainstem astrocytoma|adult brain stem astrocytoma MONDO:0003707 distal biliary tract carcinoma biolink:Disease mondo UMLS:C1333308|DOID:5923|NCIT:C7109 A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct. UMLS:C1333308|DOID:5923|NCIT:C7109 http://purl.obolibrary.org/obo/MONDO_0003707 distal biliary tract carcinoma|carcinoma of the distal biliary tract|distal bile duct carcinoma|carcinoma of distal biliary tract|extrahepatic (distal) bile duct cancer|distal bile duct cancer CHEBI:25555 nitrogen atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25555 nitrogen|Stickstoff|N|nitrogen|azote|7N|nitrogeno CHEBI:50511 bipyridines biolink:ChemicalSubstance mondo Compounds containing a bipyridine group. http://purl.obolibrary.org/obo/CHEBI_50511 bipyridyls HP:0007370 Aplasia/Hypoplasia of the corpus callosum biolink:PhenotypicFeature mondo UMLS:C1861866 Absence or underdevelopment of the corpus callosum. http://purl.obolibrary.org/obo/HP_0007370 Complete or partial absence of the corpus callosum|Hypoplasia or absence of the corpus callosum|Absent/hypoplastic corpus callosum|Agenesis/hypoplastic corpus callosum|Hypoplastic or absent corpus callosum NCBITaxon:59140 Myzomyia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_59140 NCBITaxon:59142 funestus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_59142 CHEBI:25558 organonitrogen heterocyclic antibiotic biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25558 organonitrogen heterocyclic antibiotics CHEBI:50514 vasoconstrictor agent biolink:ChemicalSubstance mondo Drug used to cause constriction of the blood vessels. http://purl.obolibrary.org/obo/CHEBI_50514 UBERON:0036553 wall of synovial tendon sheath biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036553 HGNC:7225 MPZ biolink:OntologyClass mondo http://identifiers.org/hgnc/7225 HP:0007369 Atrophy/Degeneration affecting the cerebrum biolink:PhenotypicFeature mondo UMLS:C4024898 The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. http://purl.obolibrary.org/obo/HP_0007369 HGNC:9882 RASSF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9882 HP:0007367 Atrophy/Degeneration affecting the central nervous system biolink:PhenotypicFeature mondo UMLS:C4024899 http://purl.obolibrary.org/obo/HP_0007367 Atrophy/Degeneration affecting the CNS ENVO:00000447 marine biome biolink:OntologyClass mondo An aquatic biome which is determined by a marine water body. http://purl.obolibrary.org/obo/ENVO_00000447 marine realm NCBITaxon:11161 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11161 ENVO:00000446 terrestrial biome biolink:OntologyClass mondo A biome which is primarily or completely situated on a landmass. http://purl.obolibrary.org/obo/ENVO_00000446 terrestrial realm HGNC:7224 MPV17 biolink:OntologyClass mondo http://identifiers.org/hgnc/7224 HP:0007364 Aplasia/Hypoplasia of the cerebrum biolink:PhenotypicFeature mondo UMLS:C4024902 http://purl.obolibrary.org/obo/HP_0007364 Absent/small cerebrum|Absent/underdeveloped cerebrum HGNC:9884 RB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9884 HGNC:26922 ERCC6L2 biolink:OntologyClass mondo http://identifiers.org/hgnc/26922 HGNC:26926 JAGN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/26926 OBO:mondo#disease_responds_to disease responds to biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#disease_responds_to HGNC:14938 PIGT biolink:OntologyClass mondo http://identifiers.org/hgnc/14938 GO:0001808 negative regulation of type IV hypersensitivity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the rate of type IV hypersensitivity, a type of inflammatory response. http://purl.obolibrary.org/obo/GO_0001808 downregulation of type IV hypersensitivity|down regulation of type IV hypersensitivity|inhibition of type IV hypersensitivity|down-regulation of type IV hypersensitivity GO:0001809 positive regulation of type IV hypersensitivity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of type IV hypersensitivity, a type of inflammatory response. http://purl.obolibrary.org/obo/GO_0001809 activation of type IV hypersensitivity|up-regulation of type IV hypersensitivity|upregulation of type IV hypersensitivity|up regulation of type IV hypersensitivity|stimulation of type IV hypersensitivity GO:0001804 negative regulation of type III hypersensitivity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the rate of type III hypersensitivity, a type of inflammatory response. http://purl.obolibrary.org/obo/GO_0001804 down-regulation of type III hypersensitivity|down regulation of type III hypersensitivity|inhibition of type III hypersensitivity|downregulation of type III hypersensitivity GO:0001805 positive regulation of type III hypersensitivity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of type III hypersensitivity, a type of inflammatory response. http://purl.obolibrary.org/obo/GO_0001805 stimulation of type III hypersensitivity|upregulation of type III hypersensitivity|up-regulation of type III hypersensitivity|up regulation of type III hypersensitivity|activation of type III hypersensitivity HP:0007378 Neoplasm of the gastrointestinal tract biolink:PhenotypicFeature mondo MSH:D005770|NCIT:C3262|UMLS:C0017185|SNOMEDCT_US:126768004 A tumor (abnormal growth of tissue) of the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0007378 Gastrointestinal tract tumor|Gastrointestinal tract neoplasm|Gastrointestinal tract neoplasia|GI tract tumor|Neoplasm of the GI tract GO:0001806 type IV hypersensitivity biolink:OntologyClass mondo An inflammatory response driven by T cell recognition of processed soluble or cell-associated antigens leading to cytokine release and leukocyte activation. http://purl.obolibrary.org/obo/GO_0001806 delayed hypersensitivity response|delayed-type hypersensitivity GO:0001807 regulation of type IV hypersensitivity biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of type IV hypersensitivity, a type of inflammatory response. http://purl.obolibrary.org/obo/GO_0001807 HGNC:7230 MRE11 biolink:OntologyClass mondo http://identifiers.org/hgnc/7230 HGNC:9891 RBBP8 biolink:OntologyClass mondo http://identifiers.org/hgnc/9891 HGNC:9896 RBM10 biolink:OntologyClass mondo http://identifiers.org/hgnc/9896 HP:0007373 Motor neuron atrophy biolink:PhenotypicFeature mondo UMLS:C4024896 Wasting involving the motor neuron. http://purl.obolibrary.org/obo/HP_0007373 Motor neuron degeneration GO:0001802 type III hypersensitivity biolink:OntologyClass mondo An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. http://purl.obolibrary.org/obo/GO_0001802 GO:0001803 regulation of type III hypersensitivity biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of type III hypersensitivity, a type of inflammatory response. http://purl.obolibrary.org/obo/GO_0001803 NCBITaxon:11176 Avian avulavirus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11176 avian paramyxovirus 1|Avian Paramyxovirus Serotype I|NDV|Avian paramyxovirus type-1|Newcastle disease virus NDV|Newcastle disease virus|Avian paramyxovirus type 1 HP:0007375 Abnormality of the septum pellucidum biolink:PhenotypicFeature mondo UMLS:C4024894 An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. http://purl.obolibrary.org/obo/HP_0007375 MONDO:0003744 spindle cell intraocular melanoma biolink:Disease mondo NCIT:C7986|UMLS:C0279687|DOID:6037 A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes. UMLS:C0279687|NCIT:C7986|DOID:6037 http://purl.obolibrary.org/obo/MONDO_0003744 spindle cell uveal melanoma|uveal spindle cell melanoma|spindle cell melanoma of uvea|spindle cell melanoma of the uvea NCBITaxon:1224 Proteobacteria organism taxon mondo PMID:29458499|PMID:11542017|PMID:26654112|PMID:11321122|PMID:11837318|PMID:16280474|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1224 proteobacteria|purple bacteria|purple non-sulfur bacteria|purple bacteria and relatives|Alphaproteobacteriota|Alphaproteobacteraeota|purple photosynthetic bacteria|purple photosynthetic bacteria and relatives MONDO:0003745 choroid spindle cell melanoma biolink:Disease mondo DOID:6041|UMLS:C1333027|NCIT:C6099 A spindle cell melanoma that involves the optic choroid. UMLS:C1333027|DOID:6041|NCIT:C6099 http://purl.obolibrary.org/obo/MONDO_0003745 spindle cell melanoma of the choroid|optic choroid spindle cell melanoma|spindle cell melanoma of choroid|spindle cell melanoma of optic choroid MONDO:0003746 ciliary body spindle cell melanoma biolink:Disease mondo NCIT:C6117|UMLS:C1333052|DOID:6043 A spindle cell melanoma that involves the ciliary body. DOID:6043|UMLS:C1333052|NCIT:C6117 http://purl.obolibrary.org/obo/MONDO_0003746 spindle cell melanoma of the ciliary body|ciliary body spindle cell melanoma|spindle cell melanoma of ciliary body MONDO:0003747 telangiectatic glomangioma biolink:Disease mondo NCIT:C5345|UMLS:C1336699|DOID:6048 A glomus tumor characterized by huge vascular channel formations. DOID:6048|NCIT:C5345|UMLS:C1336699 http://purl.obolibrary.org/obo/MONDO_0003747 telangiectatic glomangioma MONDO:0003740 AIDS phobia biolink:Disease mondo EFO:1001873|UMLS:C0853870|DOID:603|NCIT:C35614 An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome. NCIT:C35614|DOID:603|UMLS:C0853870 http://purl.obolibrary.org/obo/MONDO_0003740 AIDS phobia MONDO:0003741 juvenile type testicular granulosa cell tumor biolink:Disease mondo UMLS:C0334403|DOID:6032|UMLS:C1515285|NCIT:C39947 A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells. NCIT:C39947|UMLS:C0334403|DOID:6032|UMLS:C1515285 http://purl.obolibrary.org/obo/MONDO_0003741 juvenile type granulosa cell tumor|juvenile granulosa cell tumour|juvenile granulosa cell tumor (morphologic abnormality)|juvenile granulosa cell tumor|juvenile type granulosa cell neoplasm MONDO:0003742 heart fibrosarcoma biolink:Disease mondo UMLS:C1332844|NCIT:C5361|DOID:6033 A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. UMLS:C1332844|NCIT:C5361|DOID:6033 http://purl.obolibrary.org/obo/MONDO_0003742 heart fibrosarcoma|cardiac fibrosarcoma|fibrosarcoma of the heart|Cardiac fibrosarcoma|heart fibrosarcoma (disease)|fibrosarcoma of heart MONDO:0003743 heart malignant hemangiopericytoma biolink:Disease mondo NCIT:C5365|DOID:6034|UMLS:C1334567 A malignant hemangiopericytoma arising in the heart. NCIT:C5365|DOID:6034|UMLS:C1334567 http://purl.obolibrary.org/obo/MONDO_0003743 heart spindle cell tumor|malignant Cardiac hemangiopericytoma|malignant hemangiopericytoma of heart|heart hemangiopericytoma|malignant heart hemangiopericytoma|malignant hemangiopericytoma of the heart MONDO:0015729 mosaic trisomy 16 biolink:Disease mondo SCTID:764621006|MESH:C538041|ICD10:Q92.1|Orphanet:1708 Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. MESH:C538041|ORPHA:1708|SNOMEDCT:764621006 http://purl.obolibrary.org/obo/MONDO_0015729 Mosaic trisomy type 16|trisomy 16 mosaicism|Mosaic trisomy chromosome 16 ordo_malformation_syndrome MONDO:0015728 distal trisomy 15q biolink:Disease mondo ICD10:Q92.3|MESH:C538036|Orphanet:1707 UMLS:C2931705|MESH:C538036|ORPHA:1707 http://purl.obolibrary.org/obo/MONDO_0015728 trisomy 15qter|distal duplication 15q|telomeric duplication 15q|distal trisomy type 15q ordo_etiological_subtype MONDO:0015727 mosaic trisomy 15 biolink:Disease mondo SCTID:764619001|ICD10:Q92.1|UMLS:CN035788|GARD:0005313|MESH:C538037|Orphanet:1706 Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. UMLS:CN035788|MESH:C538037|ORPHA:1706|SNOMEDCT:764619001|UMLS:C2931707 http://purl.obolibrary.org/obo/MONDO_0015727 chromosome 15, trisomy mosaicism|Mosaic trisomy type 15|trisomy 15 mosaicism|Mosaic trisomy chromosome 15 ordo_malformation_syndrome HGNC:14906 NIN biolink:OntologyClass mondo http://identifiers.org/hgnc/14906 MONDO:0015733 low anorectal malformation biolink:Disease mondo SCTID:253772005|UMLS:C0345218|ICD9:751.5|NCIT:C98975|ICD10:Q42.3|Orphanet:171215|ICD10:Q42.2 Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation. SNOMEDCT:253772005|NCIT:C98975|ORPHA:171215|UMLS:C0345218 http://purl.obolibrary.org/obo/MONDO_0015733 ordo_clinical_subtype CL:0002187 basal cell of epidermis biolink:Cell mondo FMA:70571 A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane. http://purl.obolibrary.org/obo/CL_0002187 MONDO:0015732 intermediate anorectal malformation biolink:Disease mondo SCTID:734024009|Orphanet:171208|ICD10:Q42.1|ICD10:Q42.0 Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections. SNOMEDCT:734024009|ORPHA:171208 http://purl.obolibrary.org/obo/MONDO_0015732 ordo_clinical_subtype MONDO:0015731 high anorectal malformation biolink:Disease mondo SCTID:253771003|ICD10:Q42.1|ICD10:Q42.0|ICD9:751.5|Orphanet:171201 High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence. SNOMEDCT:253771003|ORPHA:171201|UMLS:C0345210 http://purl.obolibrary.org/obo/MONDO_0015731 ordo_clinical_subtype MONDO:0015730 mosaic trisomy 17 biolink:Disease mondo SCTID:764622004|UMLS:C1096168|ICD10:Q92.1|MESH:C538044|GARD:0005317|NCIT:C37865|Orphanet:1711 Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. UMLS:C1096168|ORPHA:1711|SNOMEDCT:764622004|MESH:C538044|NCIT:C37865 http://purl.obolibrary.org/obo/MONDO_0015730 chromosome 17, trisomy mosaicism|trisomy 17|chromosome 17 trisomy|chromosome 17, trisomy|Mosaic trisomy type 17|trisomy 17 mosaicism|Mosaic trisomy chromosome 17|chromosome 17 duplication ordo_malformation_syndrome MONDO:0015737 typical nemaline myopathy biolink:Disease mondo ICD10:G71.2|Orphanet:171436|GARD:0012822 Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement. ORPHA:171436 http://purl.obolibrary.org/obo/MONDO_0015737 typical congenital nemaline myopathy ordo_disease MONDO:0015736 intermediate nemaline myopathy biolink:Disease mondo ICD10:G71.2|GARD:0012823|Orphanet:171433 Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression. ORPHA:171433 http://purl.obolibrary.org/obo/MONDO_0015736 Intermediate congenital nemaline myopathy|Intermediate congenital NM ordo_disease MONDO:0015735 severe congenital nemaline myopathy biolink:Disease mondo Orphanet:171430|ICD10:G71.2|GARD:0012821 Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates. ORPHA:171430 http://purl.obolibrary.org/obo/MONDO_0015735 severe congenital (neonatal) NM clingen|ordo_disease|gard_rare MONDO:0015734 rectal duplication biolink:Disease mondo Orphanet:171220|SCTID:725910009|ICD10:Q43.4 Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum. SNOMEDCT:725910009|ORPHA:171220 http://purl.obolibrary.org/obo/MONDO_0015734 ordo_morphological_anomaly ENVO:00000428 biome biolink:OntologyClass mondo A biome is an ecosystem to which resident ecological communities have evolved adaptations. http://purl.obolibrary.org/obo/ENVO_00000428 EcosytemType|major habitat type MONDO:0003737 malignant testicular Leydig cell tumor biolink:Disease mondo DOID:6021|NCIT:C39942|UMLS:C1515288 A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor. NCIT:C39942|UMLS:C1515288|DOID:6021 http://purl.obolibrary.org/obo/MONDO_0003737 testicular Leydig cell tumor, malignant MONDO:0003738 selective IgE deficiency disease biolink:Disease mondo SCTID:234540007|UMLS:C0398694|ICD9:279.03|NCIT:C27143|DOID:6024 A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases. DOID:6024|SNOMEDCT:234540007|UMLS:C0398694|NCIT:C27143 http://purl.obolibrary.org/obo/MONDO_0003738 selective immunoglobulin E deficiency|selective IgE immunodeficiency MONDO:0003739 selective immunoglobulin deficiency disease biolink:Disease mondo UMLS:C1335942|NCIT:C27870|DOID:6025 A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. UMLS:C1335942|DOID:6025|NCIT:C27870 http://purl.obolibrary.org/obo/MONDO_0003739 selective Immunoglobulin isotype deficiency MONDO:0003755 urinary tract non-invasive transitional cell neoplasm biolink:Disease mondo NCIT:C39854|DOID:6065|UMLS:C1518361 UMLS:C1518361|NCIT:C39854|DOID:6065 http://purl.obolibrary.org/obo/MONDO_0003755 non-invasive urothelial neoplasm|non-invasive transitional cell neoplasm of the urinary tract NCBITaxon:1236 Gammaproteobacteria organism taxon mondo PMID:23334881|PMID:16280474|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1236 gamma subdivision|gamma proteobacteria|g-proteobacteria|Proteobacteria gamma subdivision|gamma subgroup|Purple bacteria, gamma subdivision MONDO:0003756 ovarian mucinous neoplasm biolink:Disease mondo NCIT:C5242|DOID:6067|UMLS:C1335168 A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. NCIT:C5242|UMLS:C1335168|DOID:6067 http://purl.obolibrary.org/obo/MONDO_0003756 mucinous tumor of ovary|malignant ovarian mucinous neoplasm|mucinous neoplasm of the ovary|mucinous neoplasm of ovary|mucinous tumor of the ovary|ovarian mucinous neoplasm|ovarian mucinous tumor MONDO:0003757 paraplegia biolink:Disease mondo NCIT:C50687|SCTID:60389000|DOID:607|UMLS:C0030486|COHD:192606|GARD:0007327|ICD10:G82.2|MESH:D010264|ICD9:344.1|ICD10:G82.20 Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. UMLS:C0030486|DOID:607|SNOMEDCT:60389000|NCIT:C50687|MESH:D010264 http://purl.obolibrary.org/obo/MONDO_0003757 paraplegia, lower|severe or complete loss of motor function in the lower extremities and lower portions of the trunk gard_rare MONDO:0003758 childhood testicular germ cell tumor biolink:Disease mondo DOID:6082|UMLS:C0796663|NCIT:C6552 A germ cell tumor that arises from the testis during childhood. UMLS:C0796663|NCIT:C6552|DOID:6082 http://purl.obolibrary.org/obo/MONDO_0003758 childhood testicular germ cell tumor|testicular germ cell tumor of childhood|pediatric testicular germ cell tumor|pediatric testicular germ cell tumor|childhood testicular germ cell neoplasm|testicular germ cell tumor|pediatric testicular germ cell neoplasm MONDO:0003751 childhood germ cell tumor biolink:Disease mondo UMLS:C0279014|NCIT:C7928|DOID:6053 A germ cell tumor that occurs during childhood. NCIT:C7928|UMLS:C0279014|DOID:6053 http://purl.obolibrary.org/obo/MONDO_0003751 childhood germ cell tumor|pediatric germ cell tumor|germ cell tumor|pediatric germ cell cancer|childhood germ cell neoplasm|pediatric germ cell neoplasm MONDO:0003752 frontal sinus Schneiderian papilloma biolink:Disease mondo UMLS:C1333645|DOID:6054|NCIT:C6837 A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma. NCIT:C6837|DOID:6054|UMLS:C1333645 http://purl.obolibrary.org/obo/MONDO_0003752 frontal sinus Schneiderian papilloma|Schneiderian papilloma of frontal sinus|Schneiderian papilloma of the frontal sinus MONDO:0003753 nasal vestibule squamous papilloma biolink:Disease mondo UMLS:C0339826|DOID:6059|NCIT:C4369|SCTID:232364006|ICD9:478.19 A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule. UMLS:C0339826|SNOMEDCT:232364006|NCIT:C4369|DOID:6059 http://purl.obolibrary.org/obo/MONDO_0003753 nasal vestibule squamous papilloma|squamous papilloma of nasal vestibule|nasal vestibule papilloma|squamous papilloma of the nasal vestibule|papilloma of the nasal vestibule|papilloma of nasal vestibule MONDO:0003754 Brown-Sequard syndrome biolink:Disease mondo SCTID:27982003|DOID:606|EFO:1001279|GARD:0005964|MESH:D018437|ICD10:G83.81|NCIT:C84601 Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause. DOID:606|MESH:D018437|NCIT:C84601|SNOMEDCT:27982003 http://purl.obolibrary.org/obo/MONDO_0003754 Hemicord syndrome|Hemispinal cord syndrome|Hemiparaplegic syndrome|Brown-Squard syndrome gard_rare HGNC:26901 OTOGL biolink:OntologyClass mondo http://identifiers.org/hgnc/26901 MONDO:0015719 severe hemophilia A biolink:Disease mondo Orphanet:169802|ICD10:D66|SCTID:16872008|UMLS:C0272322 Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. ORPHA:169802|UMLS:C0272322|SNOMEDCT:16872008 http://purl.obolibrary.org/obo/MONDO_0015719 severe factor VIII deficiency|severe hemophilia type A ordo_clinical_subtype MONDO:0015718 mosaic trisomy 12 biolink:Disease mondo SCTID:764463001|Orphanet:1698|UMLS:CN073989|GARD:0005304|ICD10:Q92.1 Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. SNOMEDCT:764463001|ORPHA:1698|UMLS:CN073989 http://purl.obolibrary.org/obo/MONDO_0015718 Mosaic trisomy type 12|trisomy 12 mosaicism|Mosaic trisomy chromosome 12 ordo_malformation_syndrome|gard_rare MONDO:0015717 mild hemophilia B biolink:Disease mondo UMLS:CN200229|ICD10:D67|Orphanet:169799 Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. ORPHA:169799|UMLS:CN200229 http://purl.obolibrary.org/obo/MONDO_0015717 mild factor IX deficiency|mild hemophilia type B ordo_clinical_subtype MONDO:0015716 moderately severe hemophilia B biolink:Disease mondo UMLS:CN200228|Orphanet:169796|ICD10:D67 Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. ORPHA:169796|UMLS:CN200228 http://purl.obolibrary.org/obo/MONDO_0015716 moderately severe factor IX deficiency|moderately severe hemophilia type B ordo_clinical_subtype MONDO:0003750 childhood central nervous system germ cell tumor biolink:Disease mondo NCIT:C6205|UMLS:C0278754|DOID:6052 A germ cell tumor of the central nervous system occurring in children. UMLS:C0278754|NCIT:C6205|DOID:6052 http://purl.obolibrary.org/obo/MONDO_0003750 childhood germ cell neoplasm of CNS|pediatric germ cell tumor of the CNS|pediatric germ cell tumor of central nervous system|childhood CNS germ cell tumor|childhood central nervous system germ cell tumor|pediatric germ cell tumor of CNS|childhood germ cell neoplasm of central nervous system|pediatric CNS germ cell neoplasm|pediatric germ cell tumor of the central nervous system|childhood germ cell neoplasm of the central nervous system|pediatric central nervous system germ cell neoplasm|pediatric germ cell neoplasm of CNS|central nervous system childhood germ cell tumor|pediatric central nervous system germ cell tumor|childhood germ cell tumor of central nervous system|pediatric germ cell neoplasm of the CNS|childhood germ cell tumor of the CNS|pediatric germ cell neoplasm of central nervous system|childhood germ cell tumor of the central nervous system|central nervous system germ cell tumor|childhood germ cell tumor of CNS|pediatric CNS germ cell tumor|pediatric germ cell neoplasm of the central nervous system|childhood CNS germ cell neoplasm|childhood central nervous system germ cell neoplasm|central nervous system pediatric germ cell cancer|childhood germ cell neoplasm of the CNS NCBITaxon:1239 Firmicutes organism taxon mondo PMID:29458499|PMID:11542017|PMID:10555317|PMID:26654112|PMID:25403554|PMID:11034484|GC_ID:11|PMID:15143038 http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillaeota|firmicutes|Low G+C firmicutes|Bacillus/Clostridium group|Firmacutes|low G+C Gram-positive bacteria|Clostridium group firmicutes|Bacillota|clostridial firmicutes|low GC Gram+ MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency biolink:Disease mondo Orphanet:169826|OMIMPS:277450|DC:0000684|ICD10:D68.2 Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors. ORPHA:169826 http://purl.obolibrary.org/obo/MONDO_0015722 vitamin K-dependent clotting factors, combined deficiency of|congenital vitamin K-dependent coagulation factors combined deficiency ordo_group_of_disorders MONDO:0015721 mild hemophilia A biolink:Disease mondo SCTID:26029002|UMLS:C0272324|ICD10:D66|Orphanet:169808 Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. ORPHA:169808|SNOMEDCT:26029002|UMLS:C0272324 http://purl.obolibrary.org/obo/MONDO_0015721 mild factor VIII deficiency|mild hemophilia type A ordo_clinical_subtype MONDO:0015720 moderately severe hemophilia A biolink:Disease mondo ICD10:D66|UMLS:CN200231|Orphanet:169805 Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. UMLS:CN200231|ORPHA:169805 http://purl.obolibrary.org/obo/MONDO_0015720 moderately severe factor VIII deficiency|moderately severe hemophilia type A ordo_clinical_subtype MONDO:0015726 distal trisomy 14q biolink:Disease mondo UMLS:CN036934|MESH:C538034|Orphanet:1705|ICD10:Q92.3 MESH:C538034|ORPHA:1705|UMLS:CN036934|UMLS:C2931702 http://purl.obolibrary.org/obo/MONDO_0015726 trisomy 14qter|distal duplication 14q|telomeric duplication 14q|distal trisomy type 14q ordo_malformation_syndrome CHEBI:37527 acid biolink:ChemicalSubstance mondo An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). http://purl.obolibrary.org/obo/CHEBI_37527 Acid|acid|acido|Saeure|Saeuren|acide|acids MONDO:0015725 mosaic trisomy 14 biolink:Disease mondo Orphanet:1703|GARD:0001327|MESH:C535489|UMLS:C2930917|SCTID:764466009|NCIT:C116319|ICD10:Q92.1 Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual. UMLS:C2930917|NCIT:C116319|ORPHA:1703|MESH:C535489|SNOMEDCT:764466009 http://purl.obolibrary.org/obo/MONDO_0015725 Mosaic trisomy type 14|trisomy 14 mosaicism|Mosaic trisomy chromosome 14 ordo_malformation_syndrome|gard_rare MONDO:0015724 non-distal trisomy 13q biolink:Disease mondo Orphanet:1702|ICD10:Q92.3|SCTID:764996009 Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. ORPHA:1702|SNOMEDCT:764996009 http://purl.obolibrary.org/obo/MONDO_0015724 non-distal duplication 13q|non-distal trisomy type 13q|non-telomeric trisomy 13q ordo_malformation_syndrome MONDO:0015723 trisomy 12p biolink:Disease mondo GARD:0005305|Orphanet:1699|UMLS:C0795845|ICD10:Q92.3|MESH:C538299 Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities. MESH:C538299|UMLS:C0795845|ORPHA:1699 http://purl.obolibrary.org/obo/MONDO_0015723 12p duplication|chromosome 12p duplication|partial trisomy 12p|12p trisomy|Duplication 12p|trisomy type 12p ordo_malformation_syndrome HGNC:14921 TAS2R16 biolink:OntologyClass mondo http://identifiers.org/hgnc/14921 CL:0002191 granulocytopoietic cell biolink:Cell mondo FMA:83519 A cell involved in the formation of a granulocyte. http://purl.obolibrary.org/obo/CL_0002191 CL:0002195 hepatic stem cell biolink:Cell mondo FMA:86577 A stem cell that can give rise to the cells of the liver. http://purl.obolibrary.org/obo/CL_0002195 MONDO:0003748 flying phobia biolink:Disease mondo DOID:605|NCIT:C35413|EFO:1001889 An overwhelming, irrational, and persistent fear of traveling in an aircraft. NCIT:C35413|DOID:605 http://purl.obolibrary.org/obo/MONDO_0003748 MONDO:0003749 esophageal disease biolink:Disease mondo SCTID:30811009|DOID:6050|MESH:D004935|ICD9:530|SCTID:37657006|ICD9:530.20|NCIT:C3027|ICD10:K22.9|UMLS:C0014852|ICD9:530.2|ICD9:530.9 A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. MESH:D004935|DOID:6050|UMLS:C0014852|SNOMEDCT:30811009|SNOMEDCT:37657006|NCIT:C3027 http://purl.obolibrary.org/obo/MONDO_0003749 esophageal disorder|disease of esophagus|esophagus disease or disorder|disorder of esophagus|esophageal ulcer|esophagus disease|disorder of esophagus|disease or disorder of esophagus CL:0002194 monopoietic cell biolink:Cell mondo FMA:83552 A cell involved in the formation of a monocyte (monopoiesis). http://purl.obolibrary.org/obo/CL_0002194 MONDO:0003722 internal auditory canal meningioma biolink:Disease mondo NCIT:C5307|UMLS:C1334227|DOID:5990 A meningioma that affects the internal auditory canal. UMLS:C1334227|DOID:5990|NCIT:C5307 http://purl.obolibrary.org/obo/MONDO_0003722 meningioma (disease) of internal acoustic meatus|meningioma of the internal auditory canal|meningioma of internal auditory canal|internal acoustic meatus meningioma (disease) CHEBI:25512 neurotransmitter biolink:ChemicalSubstance mondo An endogenous compound that is used to transmit information across the synapse between a neuron and another cell. http://purl.obolibrary.org/obo/CHEBI_25512 neurotransmitters MONDO:0003723 blunt duct adenosis of breast biolink:Disease mondo NCIT:C6941|DOID:5996|UMLS:C1332573 Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia. UMLS:C1332573|DOID:5996|NCIT:C6941 http://purl.obolibrary.org/obo/MONDO_0003723 blunt duct adenosis of the breast|breast blunt duct adenosis MONDO:0003724 non-proliferative fibrocystic change of the breast biolink:Disease mondo UMLS:C1332628|DOID:5997|NCIT:C6943 Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia. UMLS:C1332628|DOID:5997|NCIT:C6943 http://purl.obolibrary.org/obo/MONDO_0003724 non-proliferative fibrocystic change of breast|breast fibrocystic change, non-proliferative type|non-proliferative fibrocystic change MONDO:0003725 breast adenosis biolink:Disease mondo EFO:0006891|NCIT:C3484|UMLS:C0085750|DOID:5998 A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis. NCIT:C3484|UMLS:C0085750|DOID:5998 http://purl.obolibrary.org/obo/MONDO_0003725 breast adenosis|adenosis|adenosis - breast|adenosis of breast|adenosis of the breast|microglandular adenosis GO:0050801 ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0050801 electrolyte homeostasis|regulation of ion homeostasis|negative regulation of crystal formation MONDO:0003720 kidney fibrosarcoma biolink:Disease mondo NCIT:C7726|DOID:5982|UMLS:C0238208 A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. UMLS:C0238208|DOID:5982|NCIT:C7726 http://purl.obolibrary.org/obo/MONDO_0003720 renal fibrosarcoma|kidney fibrosarcoma (disease)|fibrosarcoma of kidney|kidney fibrosarcoma|fibrosarcoma of the kidney MONDO:0003721 kidney osteogenic sarcoma biolink:Disease mondo UMLS:C1335747|DOID:5983|NCIT:C6181 An osteosarcoma arising from the kidney. UMLS:C1335747|DOID:5983|NCIT:C6181 http://purl.obolibrary.org/obo/MONDO_0003721 kidney osteosarcoma (disease)|osteosarcoma of kidney|kidney osteosarcoma|osteosarcoma of the kidney|renal extraskeletal osteosarcoma|renal osteogenic sarcoma|osteogenic sarcoma of kidney|osteogenic sarcoma of the kidney|kidney osteogenic sarcoma|kidney extraskeletal osteosarcoma|renal osteosarcoma CHEBI:25513 neutral glycosphingolipid biolink:ChemicalSubstance mondo Any glycosphingolipid containing unsubstituted glycosyl moieties. http://purl.obolibrary.org/obo/CHEBI_25513 neutral glycosphingolipids MONDO:0015708 immuno-osseous dysplasia biolink:Disease mondo Orphanet:169349|SCTID:254067002 ORPHA:169349|SNOMEDCT:254067002|UMLS:C0432218 http://purl.obolibrary.org/obo/MONDO_0015708 ordo_group_of_disorders GO:0050804 modulation of chemical synaptic transmission biolink:OntologyClass mondo Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. http://purl.obolibrary.org/obo/GO_0050804 regulation of chemical synaptic transmission|modulation of synaptic transmission|regulation of synaptic transmission MONDO:0015707 DNA repair defect other than combined T-cell and B-cell immunodeficiencies biolink:Disease mondo Orphanet:169346 ORPHA:169346 http://purl.obolibrary.org/obo/MONDO_0015707 ordo_group_of_disorders GO:0050805 negative regulation of synaptic transmission biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. http://purl.obolibrary.org/obo/GO_0050805 down-regulation of synaptic transmission|down regulation of synaptic transmission|inhibition of synaptic transmission|downregulation of synaptic transmission MONDO:0015706 mosaic trisomy 1 biolink:Disease mondo Orphanet:1692|ICD10:Q92.1|UMLS:CN073987 ORPHA:1692|UMLS:CN073987 http://purl.obolibrary.org/obo/MONDO_0015706 Mosaic trisomy type 1|trisomy 1 mosaicism|Mosaic trisomy chromosome 1 ordo_malformation_syndrome GO:0050802 circadian sleep/wake cycle, sleep biolink:OntologyClass mondo The part of the circadian sleep/wake cycle where the organism is asleep. http://purl.obolibrary.org/obo/GO_0050802 MONDO:0015705 autosomal recessive centronuclear myopathy biolink:Disease mondo SCTID:240081004|Orphanet:169186|UMLS:C3645536|ICD10:G71.2|GARD:0012718 Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. UMLS:C0410204|SNOMEDCT:240081004|UMLS:C3645536|ORPHA:169186 http://purl.obolibrary.org/obo/MONDO_0015705 AR-CNM|centronuclear myopathy, autosomal recessive ordo_disease GO:0050806 positive regulation of synaptic transmission biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. http://purl.obolibrary.org/obo/GO_0050806 up regulation of synaptic transmission|activation of synaptic transmission|stimulation of synaptic transmission|upregulation of synaptic transmission|up-regulation of synaptic transmission MONDO:0015709 immunodeficiency syndrome with autoimmunity biolink:Disease mondo Orphanet:169355|UMLS:CN200213 ORPHA:169355|UMLS:CN200213 http://purl.obolibrary.org/obo/MONDO_0015709 ordo_group_of_disorders MONDO:0015711 specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells biolink:Disease mondo ICD10:D80.6|Orphanet:169443 ORPHA:169443 http://purl.obolibrary.org/obo/MONDO_0015711 ordo_group_of_disorders MONDO:0015710 immune dysregulation disease with immunodeficiency biolink:Disease mondo UMLS:CN200214|Orphanet:169361 UMLS:CN200214|ORPHA:169361 http://purl.obolibrary.org/obo/MONDO_0015710 ordo_group_of_disorders OIO:shorthand shorthand biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#shorthand MONDO:0015715 severe hemophilia B biolink:Disease mondo UMLS:CN200227|ICD10:D67|Orphanet:169793 Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. UMLS:CN200227|ORPHA:169793 http://purl.obolibrary.org/obo/MONDO_0015715 severe factor IX deficiency|severe hemophilia type B ordo_clinical_subtype MONDO:0015714 secondary central precocious puberty biolink:Disease mondo Orphanet:169618|ICD10:E22.8|UMLS:CN200226 UMLS:CN200226|ORPHA:169618 http://purl.obolibrary.org/obo/MONDO_0015714 ordo_etiological_subtype MONDO:0015713 idiopathic central precocious puberty biolink:Disease mondo Orphanet:169615|SCTID:237817008|ICD10:E22.8|UMLS:C0342544|ICD9:259.1 SNOMEDCT:237817008|UMLS:C0342544|ORPHA:169615 http://purl.obolibrary.org/obo/MONDO_0015713 ordo_etiological_subtype MONDO:0015712 non-distal trisomy 10q biolink:Disease mondo ICD10:Q92.3|Orphanet:1695 Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. UMLS:C2936831|ORPHA:1695 http://purl.obolibrary.org/obo/MONDO_0015712 non-telomeric trisomy 10q|non-distal duplication 10q|non-distal trisomy type 10q ordo_malformation_syndrome MONDO:0003719 renal pelvis neoplasm biolink:Disease mondo SCTID:126881002|NCIT:C8404|DOID:5977|UMLS:C0346260|ICD9:239.5 A neoplasm (disease) that involves the renal pelvis. SNOMEDCT:126881002|UMLS:C0346260|DOID:5977|NCIT:C8404 http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm (disease)|renal pelvis neoplasm|neoplasm of the renal pelvis|neoplasm of the kidney pelvis|neoplasm of kidney pelvis|neoplasm of renal pelvis|kidney pelvis tumor|renal pelvis tumor|tumor of the renal pelvis|kidney pelvis neoplasm|tumor of kidney pelvis|tumor of the kidney pelvis|tumor of renal pelvis MONDO:0003715 bladder urachal carcinoma biolink:Disease mondo MESH:C536475|UMLS:C1511205|ONCOTREE:URCA|DOID:5958|GARD:0007836|NCIT:C39842 Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer. NCIT:C39842|MESH:C536475|DOID:5958|UMLS:C1511205 http://purl.obolibrary.org/obo/MONDO_0003715 urachal carcinoma|bladder urachal cancer|bladder urachal carcinoma gard_rare MONDO:0003716 renal pelvis papillary urothelial carcinoma biolink:Disease mondo NCIT:C6148|DOID:5973|UMLS:C1377909 A papillary transitional cell carcinoma that arises from the renal pelvis. UMLS:C1377909|DOID:5973|NCIT:C6148 http://purl.obolibrary.org/obo/MONDO_0003716 renal pelvis papillary carcinoma|kidney pelvis papillary carcinoma|papillary carcinoma of the renal pelvis|papillary carcinoma of the kidney pelvis|papillary carcinoma of kidney pelvis|papillary carcinoma of renal pelvis|renal pelvis papillary urothelial carcinoma MONDO:0003717 renal pelvis papillary tumor biolink:Disease mondo NCIT:C8603|UMLS:C0853688|DOID:5975 A papillary tumor originating in the renal pelvis. UMLS:C0853688|DOID:5975|NCIT:C8603 http://purl.obolibrary.org/obo/MONDO_0003717 papillary neoplasm of the renal pelvis|renal pelvis papillary urothelial neoplasm|renal pelvis papillary tumor|papillary tumor of renal pelvis|papillary tumor of the renal pelvis|papillary neoplasm of renal pelvis MONDO:0003718 occlusion precerebral artery biolink:Disease mondo ICD9:433.81|ICD9:433.3|UMLS:C0265090|ICD9:433.80|SCTID:28790007|ICD9:433|DOID:5976|ICD9:433.9|ICD10:I65.9 SNOMEDCT:28790007|UMLS:C0265090|DOID:5976 http://purl.obolibrary.org/obo/MONDO_0003718 occlusion and stenosis of precerebral artery|occlusion and stenosis of multiple and bilateral precerebral arteries MONDO:0003733 central nervous system mature teratoma biolink:Disease mondo UMLS:C1332886|NCIT:C7013|ONCOTREE:BMT|DOID:6017 A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO) DOID:6017|UMLS:C1332886|NCIT:C7013 http://purl.obolibrary.org/obo/MONDO_0003733 mature teratoma of CNS|mature teratoma of central nervous system|mature teratoma of the central nervous system|central nervous system mature teratoma|mature teratoma of the CNS|CNS mature teratoma|mature teratoma MONDO:0003734 adult central nervous system immature teratoma biolink:Disease mondo UMLS:C1332193|NCIT:C27401|DOID:6018 DOID:6018|UMLS:C1332193|NCIT:C27401 http://purl.obolibrary.org/obo/MONDO_0003734 adult central nervous system immature teratoma MONDO:0003735 central nervous system immature teratoma biolink:Disease mondo NCIT:C7014|DOID:6019|UMLS:C1332883|ONCOTREE:BIMT A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO) DOID:6019|UMLS:C1332883|NCIT:C7014 http://purl.obolibrary.org/obo/MONDO_0003735 immature teratoma of central nervous system|immature teratoma|immature teratoma of the central nervous system|immature teratoma of the CNS|immature teratoma of CNS|central nervous system immature teratoma|CNS immature teratoma MONDO:0003736 cancerophobia biolink:Disease mondo NCIT:C35492|DOID:602|EFO:1001879 An overwhelming, irrational, and persistent fear of being diagnosed with cancer. NCIT:C35492|DOID:602 http://purl.obolibrary.org/obo/MONDO_0003736 fear of getting cancer|Cancerphobia|cancer phobia|fear of getting cancer (finding) MONDO:0003730 aleukemic leukemia biolink:Disease mondo SCTID:302856006|UMLS:C0877858|ICD9:208.80|COHD:4121332|DOID:12965|DOID:6004|NCIT:C4982 A leukemia characterized by the absence of leukemic cells in the peripheral blood. SNOMEDCT:302856006|DOID:12965|UMLS:C0877858|DOID:6004|NCIT:C4982 http://purl.obolibrary.org/obo/MONDO_0003730 aleukemic myelosis|subleukemic leukemia|aleukemic leukemia MONDO:0003731 adult central nervous system teratoma biolink:Disease mondo UMLS:C1370506|DOID:6015|NCIT:C5794 A mature or immature teratoma affecting the central nervous system and occurring in adults. DOID:6015|UMLS:C1370506|NCIT:C5794 http://purl.obolibrary.org/obo/MONDO_0003731 central nervous system teratoma of adults|Central nervous system teratoma|teratoma of adult central nervous system|adult central nervous system teratoma|teratoma of the adult central nervous system|adult CNS teratoma|teratoma of the adult CNS|teratoma of adult CNS MONDO:0003732 adult central nervous system mature teratoma biolink:Disease mondo NCIT:C27400|DOID:6016|UMLS:C1332194 A central nervous system mature teratoma that occurs in an adult. DOID:6016|UMLS:C1332194|NCIT:C27400 http://purl.obolibrary.org/obo/MONDO_0003732 adult central nervous system mature teratoma|central nervous system mature teratoma of adults GO:0050810 regulation of steroid biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/GO_0050810 regulation of steroid synthesis|regulation of steroid formation|regulation of steroid biosynthesis|regulation of steroidogenesis|regulation of steroid anabolism NCBITaxon:181550 Trichomonadidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_181550 UBERON:0036521 wall of urethra biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036521 urethral wall CL:1000428 stem cell of epidermis biolink:Cell mondo FMA:70541 A somatic stem cell that is part of the epidermis. http://purl.obolibrary.org/obo/CL_1000428 epidermal stem cell GO:0050819 negative regulation of coagulation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of coagulation. http://purl.obolibrary.org/obo/GO_0050819 anticoagulant activity|down-regulation of coagulation|down regulation of coagulation|negative regulation of clotting|inhibition of coagulation|downregulation of coagulation UBERON:0036523 wall of vagina biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036523 vaginal wall GO:0050817 coagulation biolink:OntologyClass mondo The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. http://purl.obolibrary.org/obo/GO_0050817 clotting GO:0050818 regulation of coagulation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass. http://purl.obolibrary.org/obo/GO_0050818 regulation of clotting MONDO:0015700 immunodeficiency due to a late component of complement deficiency biolink:Disease mondo Orphanet:169150|ICD10:D84.1 A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection. ORPHA:169150 http://purl.obolibrary.org/obo/MONDO_0015700 immunodeficiency due to C5 to C9 component complement deficiency|immunodeficiency due to a C5 to C9 component complement deficiency|deficiency of complement of terminal pathway|terminal complement pathway deficiency ordo_disease MONDO:0015704 familial scaphocephaly syndrome biolink:Disease mondo Orphanet:169163|MedDRA:10072229|ICD10:Q75.0 MEDDRA:10072229|UMLS:C3267076|ORPHA:169163 http://purl.obolibrary.org/obo/MONDO_0015704 ordo_group_of_disorders MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta biolink:Disease mondo Orphanet:169160|ICD10:D81.2 ORPHA:169160 http://purl.obolibrary.org/obo/MONDO_0015703 T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta clingen|ordo_disease MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency biolink:Disease mondo ICD10:D81.2|DOID:0060014|Orphanet:169157 DOID:0060014|ORPHA:169157 http://purl.obolibrary.org/obo/MONDO_0015702 T-B+ SCID due to CD45 deficiency|CD45 deficiency ordo_disease MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency biolink:Disease mondo DOID:0060015|ICD10:D81.2|Orphanet:169154 A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. DOID:0060015|ORPHA:169154 http://purl.obolibrary.org/obo/MONDO_0015701 T-B+ SCID due to IL-7Ralpha deficiency|IL-7R|interleukin-7 receptor alpha deficiency|IL-7Ralpha deficiency ordo_disease MONDO:0003726 apocrine adenosis of breast biolink:Disease mondo NCIT:C5198|DOID:5999|UMLS:C1332314 Breast adenosis characterized by the presence of extensive apocrine metaplasia. UMLS:C1332314|DOID:5999|NCIT:C5198 http://purl.obolibrary.org/obo/MONDO_0003726 breast apocrine adenosis|apocrine adenosis of the breast|apocrine adenosis of breast MONDO:0003727 animal phobia biolink:Disease mondo EFO:1001876|NCIT:C35273|DOID:600 An overwhelming, irrational, and persistent fear of animals. NCIT:C35273|DOID:600 http://purl.obolibrary.org/obo/MONDO_0003727 fear of animals (finding)|zoophobia (finding)|fear of animals|zoophobia MONDO:0003728 breast fibrosarcoma biolink:Disease mondo UMLS:C1332630|DOID:6001|NCIT:C5185 A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. DOID:6001|UMLS:C1332630|NCIT:C5185 http://purl.obolibrary.org/obo/MONDO_0003728 fibrosarcoma of the breast|breast fibrosarcoma (disease)|fibrosarcoma of breast|breast fibrosarcoma MONDO:0003729 aleukemic leukemia cutis biolink:Disease mondo NCIT:C4983|DOID:6003|GARD:0006892|UMLS:C0887846 Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process. DOID:6003|NCIT:C4983|UMLS:C0887846 http://purl.obolibrary.org/obo/MONDO_0003729 aleukemic leukemia cutis|leukemia subleukemic CL:0002174 follicular cell of ovary biolink:Cell mondo EMAPA:31247|FMA:70589 A cell within the follicle of an ovary. http://purl.obolibrary.org/obo/CL_0002174 ENVO:01000952 anthropisation biolink:OntologyClass mondo A process during which a natural environmental system is altered by human action. http://purl.obolibrary.org/obo/ENVO_01000952 anthropization GO:0072175 epithelial tube formation biolink:OntologyClass mondo The developmental process pertaining to the initial formation of an epithelial tube. http://purl.obolibrary.org/obo/GO_0072175 ENVO:01000951 natural environment biolink:OntologyClass mondo An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. http://purl.obolibrary.org/obo/ENVO_01000951 GO:0001894 tissue homeostasis biolink:OntologyClass mondo A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. http://purl.obolibrary.org/obo/GO_0001894 tissue maintenance ENVO:01000958 terrestrial planet biolink:OntologyClass mondo A planet that is composed primarily of silicate rocks or metals. http://purl.obolibrary.org/obo/ENVO_01000958 rocky planet|telluric planet|Earth-like planet NCBITaxon:1279 Staphylococcus organism taxon mondo PMID:12656157|PMID:17220435|PMID:10758876|PMID:10319469|GC_ID:11|PMID:9734063|PMID:10319495|PMID:10425778 http://purl.obolibrary.org/obo/NCBITaxon_1279 Aurococcus HP:0010950 Abnormality of the fourth ventricle biolink:PhenotypicFeature mondo UMLS:C4023630 An abnormality of the fourth ventricle. http://purl.obolibrary.org/obo/HP_0010950 HP:0007313 Cerebral degeneration biolink:PhenotypicFeature mondo SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002 http://purl.obolibrary.org/obo/HP_0007313 Neuroaxonal degeneration in the brain NCBITaxon:1280 Staphylococcus aureus organism taxon mondo PMID:8573498|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1280 Micrococcus aureus|Staphlococcus pyogenes citreus|Staphylococcus pyogenes aureus|Micrococcus pyogenes GO:0001870 positive regulation of complement activation, lectin pathway biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of complement activation by the lectin pathway. http://purl.obolibrary.org/obo/GO_0001870 up regulation of complement activation, lectin pathway|activation of complement activation, lectin pathway|positive regulation of complement cascade, lectin pathway|stimulation of complement activation, lectin pathway|upregulation of complement activation, lectin pathway|up-regulation of complement activation, lectin pathway HGNC:9802 RAC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9802 GO:0098796 membrane protein complex biolink:OntologyClass mondo Any protein complex that is part of a membrane. http://purl.obolibrary.org/obo/GO_0098796 NCBITaxon:1257 Peptostreptococcus organism taxon mondo GC_ID:11|PMID:11491354 http://purl.obolibrary.org/obo/NCBITaxon_1257 GO:0098797 plasma membrane protein complex biolink:OntologyClass mondo Any protein complex that is part of the plasma membrane. http://purl.obolibrary.org/obo/GO_0098797 GO:0098794 postsynapse biolink:OntologyClass mondo The part of a synapse that is part of the post-synaptic cell. http://purl.obolibrary.org/obo/GO_0098794 GO:0001887 selenium compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving compounds that contain selenium, such as selenocysteine. http://purl.obolibrary.org/obo/GO_0001887 selenium metabolic process|selenium compound metabolism|selenium metabolism GO:0098793 presynapse biolink:OntologyClass mondo The part of a synapse that is part of the presynaptic cell. http://purl.obolibrary.org/obo/GO_0098793 presynaptic terminal HP:0010936 Abnormality of the lower urinary tract biolink:PhenotypicFeature mondo UMLS:C4023640 An abnormality of the lower urinary tract. http://purl.obolibrary.org/obo/HP_0010936 HP:0032309 Abnormal granulocyte count biolink:PhenotypicFeature mondo Any deviation from the normal cell count per volume of granulocytes in the blood circulation. http://purl.obolibrary.org/obo/HP_0032309 HP:0010935 Abnormality of the upper urinary tract biolink:PhenotypicFeature mondo UMLS:C4023641 An abnormality of the upper urinary tract. http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract HGNC:9811 RAD21 biolink:OntologyClass mondo http://identifiers.org/hgnc/9811 HGNC:9816 RAD50 biolink:OntologyClass mondo http://identifiers.org/hgnc/9816 HP:0010932 Abnormal circulating nucleobase concentration biolink:PhenotypicFeature mondo UMLS:C4020762|UMLS:C4023643 An abnormality of a nucleobase metabolic process. http://purl.obolibrary.org/obo/HP_0010932 Abnormal nucleoside levels HGNC:9817 RAD51 biolink:OntologyClass mondo http://identifiers.org/hgnc/9817 HP:0010930 Abnormal blood monovalent inorganic cation concentration biolink:PhenotypicFeature mondo UMLS:C4023645 An abnormality of monovalent inorganic cation homeostasis. http://purl.obolibrary.org/obo/HP_0010930 Abnormality of monovalent inorganic cation homeostasis CHEBI:50584 alkyl alcohol biolink:ChemicalSubstance mondo An aliphatic alcohol in which the aliphatic alkane chain is substituted by a hydroxy group at unspecified position. http://purl.obolibrary.org/obo/CHEBI_50584 hydroxyalkanes|hydroxyalkane|alkyl alcohols GO:0098798 mitochondrial protein-containing complex biolink:OntologyClass mondo A protein complex that is part of a mitochondrion. http://purl.obolibrary.org/obo/GO_0098798 mitochondrial protein complex HGNC:9823 RAD51D biolink:OntologyClass mondo http://identifiers.org/hgnc/9823 HGNC:9826 RAD54L biolink:OntologyClass mondo http://identifiers.org/hgnc/9826 HGNC:9820 RAD51C biolink:OntologyClass mondo http://identifiers.org/hgnc/9820 HP:0010995 Abnormal circulating dicarboxylic acid concentration biolink:PhenotypicFeature mondo UMLS:C4023606 Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. http://purl.obolibrary.org/obo/HP_0010995 HP:0010993 Abnormality of the cerebral subcortex biolink:PhenotypicFeature mondo UMLS:C4021207 An abnormality of the cerebral subcortex. http://purl.obolibrary.org/obo/HP_0010993 Abnormality of the cerebral medulla HGNC:9829 RAF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9829 HP:0010990 Abnormality of the common coagulation pathway biolink:PhenotypicFeature mondo UMLS:C4023609 An abnormality of blood coagulation, common pathway. http://purl.obolibrary.org/obo/HP_0010990 HGNC:9834 RAI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9834 UBERON:0012504 adventitia of esophagus biolink:AnatomicalEntity mondo A adventitia that is part of a esophagus. http://purl.obolibrary.org/obo/UBERON_0012504 adventitia of oesophagus|esophagus adventitia|adventitious layer of esophagus|tunica adventitia oesophageae|esophageal adventitia|tunica adventitia (esophagus) UBERON:0012503 serosa of fundus of stomach biolink:AnatomicalEntity mondo A serous membrane that is part of a fundus of stomach. http://purl.obolibrary.org/obo/UBERON_0012503 visceral peritoneum of fundus of stomach HGNC:9832 RAG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9832 HP:0007354 Amyotrophic lateral sclerosis biolink:PhenotypicFeature mondo MSH:D000690|SNOMEDCT_US:86044005|UMLS:C0002736 http://purl.obolibrary.org/obo/HP_0007354 Lou Gehrig's disease GO:0001867 complement activation, lectin pathway biolink:OntologyClass mondo Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes. http://purl.obolibrary.org/obo/GO_0001867 complement cascade, lectin pathway HGNC:9831 RAG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9831 GO:0001868 regulation of complement activation, lectin pathway biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the lectin pathway of complement activation. http://purl.obolibrary.org/obo/GO_0001868 regulation of complement cascade, lectin pathway GO:0001869 negative regulation of complement activation, lectin pathway biolink:OntologyClass mondo Any process that stops, prevents, or reduces the rate of complement activation by the lectin pathway. http://purl.obolibrary.org/obo/GO_0001869 inhibition of complement activation, lectin pathway|downregulation of complement activation, lectin pathway|negative regulation of complement cascade, lectin pathway|down-regulation of complement activation, lectin pathway|down regulation of complement activation, lectin pathway HP:0010980 Hyperlipoproteinemia biolink:PhenotypicFeature mondo UMLS:C0020476|MSH:D006951|SNOMEDCT_US:3744001 An abnormal increase in the level of lipoprotein cholesterol in the blood. http://purl.obolibrary.org/obo/HP_0010980 CHEBI:37578 halide biolink:ChemicalSubstance mondo Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements. http://purl.obolibrary.org/obo/CHEBI_37578 halides CHEBI:37577 heteroatomic molecular entity biolink:ChemicalSubstance mondo A molecular entity consisting of two or more chemical elements. http://purl.obolibrary.org/obo/CHEBI_37577 chemical compound|heteroatomic molecular entities HP:0010989 Abnormality of the intrinsic pathway biolink:PhenotypicFeature mondo UMLS:C4023610 An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. http://purl.obolibrary.org/obo/HP_0010989 HP:0010988 Abnormality of the extrinsic pathway biolink:PhenotypicFeature mondo UMLS:C4023611 An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. http://purl.obolibrary.org/obo/HP_0010988 HP:0010987 Abnormal cellular immune system morphology biolink:PhenotypicFeature mondo UMLS:C4023612 An abnormality of the morphology or counts of the cells that make up the immune system. http://purl.obolibrary.org/obo/HP_0010987 HP:0010985 Gonosomal inheritance biolink:PhenotypicFeature mondo UMLS:C4023613 A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. http://purl.obolibrary.org/obo/HP_0010985 HGNC:9848 RANBP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9848 GO:0001838 embryonic epithelial tube formation biolink:OntologyClass mondo The morphogenesis of an embryonic epithelium into a tube-shaped structure. http://purl.obolibrary.org/obo/GO_0001838 GO:0001841 neural tube formation biolink:OntologyClass mondo The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/GO_0001841 neurulation|neural tube morphogenesis GO:0001843 neural tube closure biolink:OntologyClass mondo The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. http://purl.obolibrary.org/obo/GO_0001843 HP:0010972 Anemia of inadequate production biolink:PhenotypicFeature mondo UMLS:C0678199|SNOMEDCT_US:70730006|UMLS:C0392708 A kind of anemia characterized by inadequate production of erythrocytes. http://purl.obolibrary.org/obo/HP_0010972 Dyserythropoietic anemia|Anemia, dyserythropoietic|Ineffective erythropoiesis|Defective erythropoiesis|Anaemia of inadequate production HP:0010979 Abnormality of lipoprotein cholesterol concentration biolink:PhenotypicFeature mondo UMLS:C4023615 An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. http://purl.obolibrary.org/obo/HP_0010979 Abnormality of the level of lipoprotein cholesterol HP:0010978 Abnormality of immune system physiology biolink:PhenotypicFeature mondo UMLS:C4023616 A functional abnormality of the immune system. http://purl.obolibrary.org/obo/HP_0010978 HP:0010976 B lymphocytopenia biolink:PhenotypicFeature mondo UMLS:C1855067 An abnormal decrease from the normal count of B cells. http://purl.obolibrary.org/obo/HP_0010976 Reduction in B cell number|B cell lymphopenia|B cell deficiency|Decreased B cell count|Low B cell count HP:0010975 Abnormal B cell count biolink:PhenotypicFeature mondo UMLS:C4021208 A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. http://purl.obolibrary.org/obo/HP_0010975 Abnormality of B cell numbers|Abnormal number of B cells|Abnormal numbers of B cells|Abnormality of B cell count HP:0010974 Abnormal myeloid leukocyte morphology biolink:PhenotypicFeature mondo UMLS:C4023618 An abnormality of myeloid leukocytes. http://purl.obolibrary.org/obo/HP_0010974 Abnormality of myeloid leukocytes CHEBI:37581 gamma-lactone biolink:ChemicalSubstance mondo A lactone having a five-membered lactone ring. http://purl.obolibrary.org/obo/CHEBI_37581 gamma-lactona|gamma-Laktone|gamma-lactonas|a 1,4-lactone|1,4-Lactone|gamma-lactones|butyrolactones|1,4-lactones GO:0001848 complement binding biolink:OntologyClass mondo Interacting selectively and non-covalently with any component or product of the complement cascade. http://purl.obolibrary.org/obo/GO_0001848 GO:1990904 ribonucleoprotein complex biolink:OntologyClass mondo A macromolecular complex that contains both RNA and protein molecules. http://purl.obolibrary.org/obo/GO_1990904 RNA-protein complex|protein-RNA complex|ribonucleoprotein complex|extracellular ribonucleoprotein complex|RNP|intracellular ribonucleoprotein complex MONDO:0013190 factor XIII, b subunit, deficiency of biolink:Disease mondo MESH:C567688|OMIM:613235 http://identifiers.org/omim/613235|MESH:C567688 http://purl.obolibrary.org/obo/MONDO_0013190 factor XIII, b subunit, deficiency of GO:0050789 regulation of biological process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/GO_0050789 regulation of physiological process MONDO:0013191 focal segmental glomerulosclerosis 5 biolink:Disease mondo ICD10:N04.1|UMLS:C2750475|OMIM:613237|DOID:0111130|MESH:C567687 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. UMLS:C2750475|http://identifiers.org/omim/613237|MESH:C567687|DOID:0111130 http://purl.obolibrary.org/obo/MONDO_0013191 focal segmental glomerulosclerosis caused by mutation in INF2|focal segmental glomerulosclerosis 5; FSGS5|glomerulosclerosis, focal segmental, 5|FSGS5|focal segmental glomerulosclerosis 5|focal segmental glomerulosclerosis type 5|INF2 focal segmental glomerulosclerosis GO:1904951 positive regulation of establishment of protein localization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of establishment of protein localization. http://purl.obolibrary.org/obo/GO_1904951 positive regulation of establishment of protein localisation|activation of protein positioning|positive regulation of protein positioning|up-regulation of establishment of protein localization|upregulation of protein recruitment|upregulation of establishment of protein localisation|up regulation of establishment of protein localization|upregulation of protein positioning|activation of establishment of protein localization|up-regulation of protein recruitment|up-regulation of establishment of protein localisation|upregulation of establishment of protein localization|up regulation of protein recruitment|up-regulation of protein positioning|activation of protein recruitment|up regulation of establishment of protein localisation|positive regulation of protein recruitment|activation of establishment of protein localisation|up regulation of protein positioning GO:1904950 negative regulation of establishment of protein localization biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization. http://purl.obolibrary.org/obo/GO_1904950 down-regulation of protein recruitment|inhibition of establishment of protein localization|negative regulation of protein recruitment|downregulation of establishment of protein localization|down-regulation of establishment of protein localisation|negative regulation of establishment of protein localisation|down-regulation of protein positioning|down regulation of protein recruitment|negative regulation of protein positioning|down regulation of establishment of protein localisation|down regulation of protein positioning|inhibition of protein recruitment|downregulation of protein recruitment|down-regulation of establishment of protein localization|downregulation of establishment of protein localisation|inhibition of establishment of protein localisation|downregulation of protein positioning|inhibition of protein positioning|down regulation of establishment of protein localization GO:0035148 tube formation biolink:OntologyClass mondo Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. http://purl.obolibrary.org/obo/GO_0035148 tube lumen formation|lumen formation in an anatomical structure MONDO:0013194 Pseudopili annulati biolink:Disease mondo OMIM:613241 http://identifiers.org/omim/613241 http://purl.obolibrary.org/obo/MONDO_0013194 Pseudopili annulati MONDO:0013195 hypertrophic cardiomyopathy 13 biolink:Disease mondo MESH:C567686|UMLS:C2750472|DOID:0110319|OMIM:613243 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. DOID:0110319|UMLS:C2750472|http://identifiers.org/omim/613243|MESH:C567686 http://purl.obolibrary.org/obo/MONDO_0013195 hypertrophic cardiomyopathy type 13|TNNC1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 13|cardiomyopathy, familial hypertrophic, type 13|hypertrophic cardiomyopathy caused by mutation in TNNC1|cardiomyopathy, familial hypertrophic, 13|CMH13|cardiomyopathy, familial hypertrophic, 13; CMH13 MONDO:0013192 spondyloarthropathy, susceptibility to, 3 biolink:Disease mondo OMIM:613238 http://identifiers.org/omim/613238 http://purl.obolibrary.org/obo/MONDO_0013192 spondyloarthropathy, susceptibility to, 3; SPDA3|spondyloarthropathy, susceptibility to, 3|SPDA3 predisposition MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 biolink:Disease mondo OMIM:613239 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene. http://identifiers.org/omim/613239 http://purl.obolibrary.org/obo/MONDO_0013193 KCNJ18 thyrotoxic periodic paralysis|thyrotoxic periodic paralysis, susceptibility to, 2|thyrotoxic periodic paralysis caused by mutation in KCNJ18|TTPP2|thyrotoxic periodic paralysis, susceptibility to, 2; TTPP2|thyrotoxic periodic paralysis, susceptibility to, type 2 predisposition MONDO:0013198 dilated cardiomyopathy 1EE biolink:Disease mondo MESH:C567683|DOID:0110453|OMIM:613252|ICD10:I42.0|UMLS:C2750466 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. DOID:0110453|UMLS:C2750466|http://identifiers.org/omim/613252|MESH:C567683 http://purl.obolibrary.org/obo/MONDO_0013198 CMD1EE|familial isolated dilated cardiomyopathy caused by mutation in MYH6|cardiomyopathy, dilated, type 1Ee|cardiomyopathy, dilated, 1EE; CMD1EE|cardiomyopathy, dilated, 1EE|MYH6 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1EE MONDO:0013199 tuberous sclerosis 2 biolink:Disease mondo OMIM:613254|DOID:0080325|NCIT:C75331|GARD:0005381 Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). DOID:0080325|NCIT:C75331|http://identifiers.org/omim/613254 http://purl.obolibrary.org/obo/MONDO_0013199 TSC2|tuberous sclerosis type 2|tuberous sclerosis, type 2|tuberous sclerosis 2; TSC2|TSC2 Angiomyolipomas, renal, modifier of|tuberous sclerosis 2 gard_rare MONDO:0013196 colorectal cancer, hereditary nonpolyposis, type 8 biolink:Disease mondo MESH:C567685|OMIM:613244|UMLS:C2750471|DOID:0070270 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene. UMLS:C2750471|DOID:0070270|http://identifiers.org/omim/613244|MESH:C567685 http://purl.obolibrary.org/obo/MONDO_0013196 EPCAM hereditary nonpolyposis colon cancer|colorectal cancer, hereditary nonpolyposis, type 8; HNPCC8|colorectal cancer, hereditary nonpolyposis, type 8|HNPCC8|hereditary nonpolyposis colon cancer caused by mutation in EPCAM MONDO:0013197 hypertrophic cardiomyopathy 14 biolink:Disease mondo MESH:C567684|DOID:0110320|UMLS:C2750467|OMIM:613251 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. DOID:0110320|UMLS:C2750467|http://identifiers.org/omim/613251|MESH:C567684 http://purl.obolibrary.org/obo/MONDO_0013197 cardiomyopathy, familial hypertrophic, type 14|cardiomyopathy, familial hypertrophic, 14|cardiomyopathy familial hypertrophic 14|CMH14|cardiomyopathy, familial hypertrophic, 14; CMH14|hypertrophic cardiomyopathy type 14|MYH6 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYH6 MONDO:0025169 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0025169 GO:0050796 regulation of insulin secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of insulin. http://purl.obolibrary.org/obo/GO_0050796 GO:0050794 regulation of cellular process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular physiological process GO:0050795 regulation of behavior biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. http://purl.obolibrary.org/obo/GO_0050795 regulation of behaviour MONDO:0013180 asthma-related traits, susceptibility to, 8 biolink:Disease mondo OMIM:613207 http://identifiers.org/omim/613207 http://purl.obolibrary.org/obo/MONDO_0013180 ASRT8|asthma-RELATED traits, susceptibility to, 8; ASRT8|asthma-related traits, susceptibility to, 8|Rhinoconjunctivitis, susceptibility to predisposition MONDO:0025163 white heifer disease biolink:Disease mondo SCTID:82642007|UMLS:C0043152|MESH:D050072 A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile. MESH:D050072|SNOMEDCT:82642007|UMLS:C0043152 http://purl.obolibrary.org/obo/MONDO_0025163 disease, White heifer MONDO:0025167 reticuloendotheliosis, avian biolink:Disease mondo UMLS:C0276487|MESH:D055761 A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant. MESH:D055761|UMLS:C0276487 http://purl.obolibrary.org/obo/MONDO_0025167 Avian Reticuloendothelioses|Reticuloendothelioses, Avian|Avian reticuloendotheliosis GO:0060100 positive regulation of phagocytosis, engulfment biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. http://purl.obolibrary.org/obo/GO_0060100 GO:0060101 negative regulation of phagocytosis, engulfment biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. http://purl.obolibrary.org/obo/GO_0060101 MONDO:0013189 trichotillomania biolink:Disease mondo SCTID:17155009|MESH:D014256|ICD10:F63.3|GARD:0007803|DOID:0050587|NCIT:C94336|OMIM:613229|ICD9:312.39|COHD:4062972 A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair. SNOMEDCT:17155009|DOID:0050587|http://identifiers.org/omim/613229|MESH:D014256|NCIT:C94336 http://purl.obolibrary.org/obo/MONDO_0013189 trichotillomania|TTM|trichotillomania; TTM MONDO:0013183 congenital stationary night blindness 1C biolink:Disease mondo UMLS:C2750747|DOID:0110867|OMIM:613216|MESH:C567704 Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene. DOID:0110867|UMLS:C2750747|http://identifiers.org/omim/613216|MESH:C567704 http://purl.obolibrary.org/obo/MONDO_0013183 congenital stationary night blindness type 1C|CSNB1C|night blindness, congenital stationary, type 1C; CSNB1C|night blindness, congenital stationary, type 1C|congenital stationary night blindness 1C autosomal recessive|TRPM1 congenital stationary night blindness|congenital stationary night blindness caused by mutation in TRPM1|CSNB, complete, autosomal recessive MONDO:0013184 congenital diarrhea 5 with tufting enteropathy biolink:Disease mondo SCTID:715669000|UMLS:C2750737|Orphanet:92050|OMIM:613217|GARD:0010630|MESH:C567703|ICD10:P78.3|UMLS:C4275062|DOID:0060776 Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. SNOMEDCT:715669000|DOID:0060776|UMLS:C4275062|UMLS:C2750737|ORPHA:92050|http://identifiers.org/omim/613217|MESH:C567703 http://purl.obolibrary.org/obo/MONDO_0013184 IED|diarrhea 5, with tufting enteropathy, congenital; DIAR5|congenital tufting enteropathy|diarrhea 5, with tufting enteropathy, congenital|secretory diarrhea caused by mutation in EPCAM|enteropathy, congenital tufting|congenital familial intractable diarrhea with epithelial or epithelium abnormalities|DIAR5|intestinal epithelial dysplasia|congenital familial intractable diarrhea with enterocytes assembly abnormalities|tufting enteropathy|EPCAM secretory diarrhea|congenital enteropathy|intestinal epithelial cell dysplasia ordo_disease MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 biolink:Disease mondo UMLS:C2750771|ICD10:K00.5|MESH:C567706|OMIM:613211|DOID:0110061 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene. DOID:0110061|UMLS:C2750771|http://identifiers.org/omim/613211|MESH:C567706 http://purl.obolibrary.org/obo/MONDO_0013181 amelogenesis imperfecta hypomaturation type IIA3|amelogenesis imperfecta type IIA3|amelogenesis imperfecta, hypomaturation type, IIA3|amelogenesis imperfecta, hypomaturation type, IIA3; AI2A3|WDR72 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in WDR72|AI2A3 MONDO:0013182 chromosome 17p13.3 duplication syndrome biolink:Disease mondo Orphanet:217385|DOID:0060432|UMLS:C2750748|ICD10:Q92.3|OMIM:613215|SCTID:719582007|MESH:C567705|UMLS:C4304641 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. UMLS:C4304641|DOID:0060432|UMLS:C2750748|ORPHA:217385|http://identifiers.org/omim/613215|SNOMEDCT:719582007|MESH:C567705 http://purl.obolibrary.org/obo/MONDO_0013182 chromosome 17p13.3, centromeric, DUPLICATION syndrome|trisomy 17p13.3|chromosome 17p13.3 centromeric duplication syndrome|dup(17)(p13.3)|17p13.3 duplication syndrome|17p13.3 microduplication syndrome ordo_malformation_syndrome MONDO:0013187 factor XIII, A subunit, deficiency of biolink:Disease mondo OMIM:613225|UMLS:C2584877|MESH:C567691|SCTID:439455002 SNOMEDCT:439455002|MESH:C567691|UMLS:C2584877|http://identifiers.org/omim/613225 http://purl.obolibrary.org/obo/MONDO_0013187 hereditary factor XIII alpha subunit deficiency|hereditary factor XIII A subunit deficiency|factor XIII, A subunit, deficiency of|hereditary factor XIII type II deficiency MONDO:0013188 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 biolink:Disease mondo OMIM:613227|MESH:C567690|UMLS:C2750509 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene. MESH:C567690|UMLS:C2750509|http://identifiers.org/omim/613227 http://purl.obolibrary.org/obo/MONDO_0013188 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; CAMRQ3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3; CAMRQ3|CA8 dysequilibrium syndrome|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3|CAMRQ3|dysequilibrium syndrome caused by mutation in CA8|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 GO:0050793 regulation of developmental process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/GO_0050793 MONDO:0013185 leprosy, susceptibility to, 5 biolink:Disease mondo OMIM:613223 Any leprosy in which the cause of the disease is a mutation in the TLR1 gene. http://identifiers.org/omim/613223 http://purl.obolibrary.org/obo/MONDO_0013185 TLR1 leprosy|susceptibility to leprosy 5|leprosy, susceptibility to, 5|leprosy, susceptibility to, type 5|leprosy, susceptibility to, 5; LPRS5|leprosy caused by mutation in TLR1|LPRS5|leprosy, protection against predisposition GO:0050790 regulation of catalytic activity biolink:OntologyClass mondo Any process that modulates the activity of an enzyme. http://purl.obolibrary.org/obo/GO_0050790 regulation of enzyme activity|regulation of metalloenzyme activity MONDO:0013186 Noonan syndrome 6 biolink:Disease mondo OMIM:613224|UMLS:C2750732|DOID:0060584|GARD:0010701|MESH:C548084 Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. MESH:C548084|DOID:0060584|UMLS:C2750732|http://identifiers.org/omim/613224 http://purl.obolibrary.org/obo/MONDO_0013186 Noonan syndrome 6|NRAS gene related Noonan syndrome|Noonan syndrome 6; NS6|Noonan syndrome caused by mutation in NRAS|Noonan syndrome type 6|NRAS Noonan syndrome|NS6 gard_rare MONDO:0001189 obsolete esophageal carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001189 MONDO:0001188 esophagus lymphoma biolink:Disease mondo DOID:1106|NCIT:C5687|UMLS:C1333459 An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. UMLS:C1333459|DOID:1106|NCIT:C5687 http://purl.obolibrary.org/obo/MONDO_0001188 lymphoma of esophagus|primary esophageal lymphoma|lymphoma of the esophagus|esophageal lymphoma|esophagus lymphoma MONDO:0025159 pneumonia of swine, mycoplasmal biolink:Disease mondo UMLS:C1258090|MESH:D045729 A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection. MESH:D045729|UMLS:C1258090 http://purl.obolibrary.org/obo/MONDO_0025159 pneumonia of swine, enzootic|Mycoplasma pneumonia of pigs|Mycoplasmal pneumonia of swine|swine enzootic pneumonia|swine Mycoplasmal pneumonia|swine Mycoplasma pneumonia|Mycoplasma pneumonia of swine|enzootic pneumonia of pigs|enzootic pneumonia of swine MONDO:0001183 contact lens corneal edema biolink:Disease mondo SCTID:49362009|UMLS:C0474442|ICD9:371.24|DOID:11034 UMLS:C0474442|DOID:11034|SNOMEDCT:49362009 http://purl.obolibrary.org/obo/MONDO_0001183 MONDO:0001182 idiopathic corneal edema biolink:Disease mondo SCTID:1794009|COHD:377875|DOID:11033|ICD10:H18.22|UMLS:C0155109|ICD9:371.21 SNOMEDCT:1794009|UMLS:C0155109|DOID:11033 http://purl.obolibrary.org/obo/MONDO_0001182 MONDO:0025152 non-human ape disease biolink:Disease mondo MESH:D018420|UMLS:C0242635 Diseases of chimpanzees, gorillas, and orangutans. UMLS:C0242635|MESH:D018420 http://purl.obolibrary.org/obo/MONDO_0025152 disease, Pongidae|disease, ape|Pongidae disease|diseases, Pongidae|ape disease|Pongidae diseases|diseases, ape MONDO:0001181 secondary corneal edema biolink:Disease mondo SCTID:27536004|UMLS:C0155110|ICD10:H18.23|ICD9:371.22|COHD:380720|DOID:11032 UMLS:C0155110|SNOMEDCT:27536004|DOID:11032 http://purl.obolibrary.org/obo/MONDO_0001181 MONDO:0001180 bullous keratopathy biolink:Disease mondo SCTID:57207003|UMLS:C0155111|ICD9:371.23|NCIT:C26970|COHD:375815|ICD10:H18.1|DOID:11031 Keratopathy that is characterized by the presence of epithelial bullae. UMLS:C0155111|DOID:11031|NCIT:C26970|SNOMEDCT:57207003 http://purl.obolibrary.org/obo/MONDO_0001180 MONDO:0001187 urinary bladder cancer biolink:Disease mondo ICD10:C67.9|DOID:11054|UMLS:C0005684|SCTID:399326009|ICD9:188.9|ICD9:188|OMIM:109800|ICD9:188.8|KEGG:05219|ICD10:C67|NCIT:C9334 A primary or metastatic malignant neoplasm involving the bladder. http://identifiers.org/omim/109800|NCIT:C9334|DOID:11054|UMLS:C0005684|SNOMEDCT:399326009 http://purl.obolibrary.org/obo/MONDO_0001187 malignant neoplasm of the bladder|malignant bladder neoplasm|malignant tumor of the urinary bladder|malignant tumor of urinary bladder|malignant neoplasm of bladder|malignant bladder tumor|malignant urinary bladder neoplasm|malignant tumor of the bladder|urinary bladder malignant neoplasm|malignant neoplasm, urinary bladder|malignant tumor of bladder|cancer of urinary bladder|urinary bladder cancer|malignant neoplasm of urinary bladder|malignant neoplasm of the urinary bladder|tumor of the bladder|bladder cancer|malignant tumor, urinary bladder|malignant urinary bladder tumor|urinary bladder malignant tumor|malignant neoplasm, bladder MONDO:0001186 depersonalization disorder biolink:Disease mondo GARD:0006260|SCTID:70764005|DOID:11038|NCIT:C94331|COHD:437244|ICD9:300.6 A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality. NCIT:C94331|SNOMEDCT:70764005|DOID:11038 http://purl.obolibrary.org/obo/MONDO_0001186 neurotic derealization gard_rare MONDO:0001185 dissociative amnesia biolink:Disease mondo ICD10:F44.0|NCIT:C94328|COHD:444259|ICD9:300.12|DOID:11037|SCTID:84209002 A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition. NCIT:C94328|SNOMEDCT:84209002|DOID:11037 http://purl.obolibrary.org/obo/MONDO_0001185 psychogenic amnesia MONDO:0001184 chronic rapidly progressive glomerulonephritis biolink:Disease mondo UMLS:C0341694|ICD9:582.4|COHD:442076|DOID:11036|SCTID:197614002 Chronic form of rapidly progressive glomerulonephritis. DOID:11036|UMLS:C0341694|SNOMEDCT:197614002 http://purl.obolibrary.org/obo/MONDO_0001184 chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis|rapidly progressive glomerulonephritis, chronic MONDO:0025155 hemorrhagic syndrome, bovine biolink:Disease mondo MESH:D030243|UMLS:C0950112 Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality. MESH:D030243|UMLS:C0950112 http://purl.obolibrary.org/obo/MONDO_0025155 bovine hemorrhagic syndrome MONDO:0013178 congenital muscular dystrophy due to LMNA mutation biolink:Disease mondo NCIT:C148369|ICD10:G71.2|OMIM:613205|Orphanet:157973|GARD:0012585|MESH:C567708|DOID:0110640|UMLS:C2750785 Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. http://identifiers.org/omim/613205|MESH:C567708|DOID:0110640|ORPHA:157973|UMLS:C2750785|NCIT:C148369 http://purl.obolibrary.org/obo/MONDO_0013178 muscular dystrophy Congenital, LMNA-related|congenital muscular dystrophy caused by mutation in LMNA|LMNA-related congenital muscular dystrophy|muscular dystrophy, congenital, LMNA-related|L-CMD|congenital muscular dystrophy LMNA-related|MDCL|LMNA congenital muscular dystrophy ordo_disease|gard_rare MONDO:0013179 hereditary spastic paraplegia 44 biolink:Disease mondo OMIM:613206|SCTID:723821002|ICD10:G11.4|Orphanet:320401|DOID:0110796|UMLS:C2750784|MESH:C567707 A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. http://identifiers.org/omim/613206|MESH:C567707|ORPHA:320401|SNOMEDCT:723821002|DOID:0110796|UMLS:C2750784 http://purl.obolibrary.org/obo/MONDO_0013179 hereditary spastic paraplegia type 44|autosomal recessive spastic paraplegia type 44|autosomal recessive complex spastic paraplegia caused by mutation in GJC2|spastic paraplegia 44, autosomal recessive|GJC2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 44|spastic paraplegia 44, autosomal recessive; SPG44|SPG44 ordo_disease OBO:so#overlaps overlaps biolink:OntologyClass mondo X overlaps Y iff there exists some Z such that Z contained_by X and Z contained_by Y. http://purl.obolibrary.org/obo/so#overlaps GO:0060136 embryonic process involved in female pregnancy biolink:OntologyClass mondo A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother. http://purl.obolibrary.org/obo/GO_0060136 MONDO:0013172 polymicrogyria with optic nerve hypoplasia biolink:Disease mondo Orphanet:250972|OMIM:613180|MESH:C567715|UMLS:C2750798 Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. MESH:C567715|UMLS:C2750798|ORPHA:250972|http://identifiers.org/omim/613180 http://purl.obolibrary.org/obo/MONDO_0013172 polymicrogyria with optic nerve hypoplasia|cortical dysplasia, Complex, with Other brain malformations 8|cortical dysplasia, complex, with other brain malformations 8; CDCBM8|CDCBM8 ordo_malformation_syndrome MONDO:0013173 intellectual disability, autosomal recessive 13 biolink:Disease mondo UMLS:C2750791|OMIM:613192|MESH:C567714 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene. MESH:C567714|UMLS:C2750791|http://identifiers.org/omim/613192 http://purl.obolibrary.org/obo/MONDO_0013173 mental retardation, autosomal recessive type 13|mental retardation, autosomal recessive 13|intellectual disability, autosomal recessive 13|TRAPPC9 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 13; MRT13|MRT13|mental retardation, autosomal recessive 13; MRT13|autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9|intellectual disability, autosomal recessive type 13 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies biolink:Disease mondo Orphanet:221145|ICD10:Q82.8|OMIM:613177|PMID:19836010|MESH:C567716|DOID:0070139|UMLS:C2750804 A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13 MESH:C567716|ORPHA:221145|UMLS:C2750804|DOID:0070139|http://identifiers.org/omim/613177 http://purl.obolibrary.org/obo/MONDO_0013170 cutis laxa, autosomal recessive, type IC; ARCL1C|autosomal recessive cutis laxa type 1C|cutis laxa, autosomal recessive, type IC|Urban-Rifkin-Davis syndrome|cutis laxa, autosomal recessive, type 1C|autosomal recessive cutis laxa type IC|cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities|ARCL1C ordo_malformation_syndrome MONDO:0013171 purine nucleoside phosphorylase deficiency biolink:Disease mondo NCIT:C3963|UMLS:C0268125|MESH:C562587|HGNC:7892|SCTID:60743005|OMIM:613179|ICD9:277.2|ICD10:D81.5|GARD:0004606|Orphanet:760|DOID:5813 Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations. DOID:5813|ORPHA:760|SNOMEDCT:60743005|MESH:C562587|UMLS:C0268125|http://identifiers.org/omim/613179|NCIT:C3963 http://purl.obolibrary.org/obo/MONDO_0013171 PNP deficiency|purine-nucleoside phosphorylase deficiency|PNPase deficiency|nucleoside phosphorylase deficiency|deficiency of inosine phosphorylase|purine nucleoside phosphorylase deficiency gard_rare|ordo_disease MONDO:0013176 ichthyosis-short stature-brachydactyly-microspherophakia syndrome biolink:Disease mondo Orphanet:363992|MESH:C567710|OMIM:613195|UMLS:C2750787|ICD10:Q93.5 MESH:C567710|ORPHA:363992|UMLS:C2750787|http://identifiers.org/omim/613195 http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani syndrome 4; WMS4|Weill-Marchesani-like syndrome|WMS4|Weill-Marchesani syndrome 4|15q26.3 microdeletion syndrome ordo_disease MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency biolink:Disease mondo DOID:0110639|ICD10:G71.2|Orphanet:34520|UMLS:C2750786|GARD:0012587|MESH:C567709|OMIM:613204 Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. MESH:C567709|DOID:0110639|UMLS:C2750786|ORPHA:34520|http://identifiers.org/omim/613204 http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy caused by mutation in ITGA7|muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency|congenital muscular dystrophy with integrin alpha-7 deficiency|congenital muscular dystrophy with ITGA7 deficiency|congenital myopathy due to integrin alpha-7 deficiency|muscular dystrophy, congenital, due to ITGA7 deficiency|ITGA7 congenital muscular dystrophy|myopathy, congenital, due to integrin Alpha-7 deficiency ordo_disease MONDO:0013174 primary ciliary dyskinesia 13 biolink:Disease mondo MESH:C567713|DOID:0110618|UMLS:C2750790|OMIM:613193|ICD10:Q34.8 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene. MESH:C567713|DOID:0110618|UMLS:C2750790|http://identifiers.org/omim/613193 http://purl.obolibrary.org/obo/MONDO_0013174 primary ciliary dyskinesia type 13|CILD13|ciliary dyskinesia, primary, 13|primary ciliary dyskinesia caused by mutation in DNAAF1|primary ciliary dyskinesia 13 with or without situs inversus|ciliary dyskinesia, primary, 13, with or without situs inversus|DNAAF1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 13; CILD13|ciliary dyskinesia, primary, type 13 MONDO:0013175 retinitis pigmentosa 50 biolink:Disease mondo MESH:C567712|OMIM:613194|ICD10:H35.5|DOID:0110396 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene. MESH:C567712|DOID:0110396|http://identifiers.org/omim/613194 http://purl.obolibrary.org/obo/MONDO_0013175 retinitis pigmentosa type 50|retinitis pigmentosa, concentric|RP50|retinitis pigmentosa caused by mutation in BEST1|retinitis pigmentosa 50|BEST1 retinitis pigmentosa|retinitis pigmentosa 50; RP50 MONDO:0025149 encephalopathy, bovine spongiform biolink:Disease mondo MESH:D016643 A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5) MESH:D016643 http://purl.obolibrary.org/obo/MONDO_0025149 spongiform encephalopathy, bovine|BSEs (bovine spongiform encephalopathy)|bovine spongiform encephalitis|bovine spongiform encephalopathy|Mad cow diseases|BSE (bovine spongiform encephalopathy)|encephalitis, bovine spongiform|Mad cow disease MONDO:0001199 dislocation of ear ossicle biolink:Disease mondo SCTID:87040007|DOID:11129|ICD9:385.23 Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity. SNOMEDCT:87040007|DOID:11129 http://purl.obolibrary.org/obo/MONDO_0001199 ossicular dislocation|ossicle chain disarticulation|ossicle chain discontinuity|dislocation of ossicles|dislocation of ear ossicles|ossicle chain disruption MONDO:0001194 obsolete rickettsialpox biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001194 MONDO:0001193 obsolete chorioretinal scar biolink:Disease mondo ICD10:H31.00|ICD10:H31.0|ICD9:363.30|SCTID:53854005|COHD:433196|DOID:11086|ICD9:363.3 DOID:11086|SNOMEDCT:53854005 http://purl.obolibrary.org/obo/MONDO_0001193 NCBITaxon:203397 Rotaliacea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_203397 Rotalioidea MONDO:0001192 esophageal melanoma biolink:Disease mondo ONCOTREE:ESMM|NCIT:C5707|DOID:1108|UMLS:C1333460 A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000) DOID:1108|NCIT:C5707|UMLS:C1333460 http://purl.obolibrary.org/obo/MONDO_0001192 esophageal melanoma|melanoma (disease) of esophagus|esophagus melanoma (disease)|mucosal melanoma of the esophagus|melanoma of esophagus|esophagus melanoma|esophagus melanoma|melanoma of the esophagus MONDO:0001191 hirudiniasis biolink:Disease mondo UMLS:C0019575|DOID:11079|ICD9:134.2|ICD10:B88.3|SCTID:64351000 An disease or disorder caused by infection with Hirudinea. UMLS:C0019575|DOID:11079|SNOMEDCT:64351000 http://purl.obolibrary.org/obo/MONDO_0001191 Hirudinea disease or disorder|leeches|Hirudinea infectious disease|Hirudinea caused disease or disorder MONDO:0001198 acquired thrombocytopenia biolink:Disease mondo SCTID:74576004|ICD9:287.4|ICD10:D69.5|DOID:11126|COHD:440372|UMLS:C0154301 An instance of thrombocytopenia that is acquired during the lifetime of the individual. DOID:11126|UMLS:C0154301|SNOMEDCT:74576004 http://purl.obolibrary.org/obo/MONDO_0001198 secondary thrombocytopenia NOS|secondary thrombocytopenia|acquired thrombocytopenia MONDO:0001197 qualitative platelet defect biolink:Disease mondo ICD9:287.1|SCTID:267532001|ICD10:D69.1|DOID:11125|UMLS:C0235604 UMLS:C0235604|DOID:11125|SNOMEDCT:267532001 http://purl.obolibrary.org/obo/MONDO_0001197 qualitative platelet deficiency MONDO:0001196 psychologic dyspareunia biolink:Disease mondo SCTID:41021005|MESH:D004414|ICD10:F52.6|ICD9:302.76|DOID:11120 DOID:11120|MESH:D004414|SNOMEDCT:41021005 http://purl.obolibrary.org/obo/MONDO_0001196 dyspareunia, psychogenic|non-organic dyspareunia MONDO:0001195 spotted fever biolink:Disease mondo ICD10:A77.0|MEDGEN:11567|GARD:0004998|ICD10:A77.9|UMLS:C0038041|ICD10:A77|DOID:11104|ICD10:A77.8|Orphanet:102022|ICD9:082.0|ICD10:A77.3|ICD9:083.8|ICD10:A77.2|SCTID:186771002|ICD10:A77.1 A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia. ORPHA:102022|DOID:11104|SNOMEDCT:186771002|UMLS:C0038041 http://purl.obolibrary.org/obo/MONDO_0001195 spotted fever Group Rickettsioses|spotted fevers|spotted fever group rickettsial disease|fevers, spotted|spotted fever Group rickettsiosis|spotted fever rickettsiosis|spotted fever|spotted fever rickettsiae disease|fever, spotted gard_rare|ordo_group_of_disorders MONDO:0013169 chromosome 5p13 duplication syndrome biolink:Disease mondo MESH:C567717|Orphanet:329802|ICD10:Q92.3|OMIM:613174|DOID:0060460|UMLS:C2750805 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). http://identifiers.org/omim/613174|MESH:C567717|ORPHA:329802|DOID:0060460|UMLS:C2750805 http://purl.obolibrary.org/obo/MONDO_0013169 5p13 microduplication syndrome|trisomy 5p13|chromosome 5p13 duplication syndrome|dup(5)(p13) ordo_malformation_syndrome GO:0060123 regulation of growth hormone secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell. http://purl.obolibrary.org/obo/GO_0060123 MONDO:0013167 PARK16 biolink:Disease mondo MESH:C567726|UMLS:C2751012|OMIM:613164 http://identifiers.org/omim/613164|MESH:C567726|UMLS:C2751012 http://purl.obolibrary.org/obo/MONDO_0013167 PARK16|Parkinson disease 16|Parkinson disease 16; PARK16 GO:0060124 positive regulation of growth hormone secretion biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell. http://purl.obolibrary.org/obo/GO_0060124 MONDO:0013168 dilated cardiomyopathy 1DD biolink:Disease mondo UMLS:C2750995|MESH:C567725|DOID:0110447|ICD10:I42.0|OMIM:613172 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene. http://identifiers.org/omim/613172|MESH:C567725|DOID:0110447|UMLS:C2750995 http://purl.obolibrary.org/obo/MONDO_0013168 familial isolated dilated cardiomyopathy caused by mutation in RBM20|RBM20 familial isolated dilated cardiomyopathy|CMD1DD|cardiomyopathy, dilated, type 1Dd|cardiomyopathy, dilated, 1DD; CMD1DD|cardiomyopathy, dilated, 1DD|dilated cardiomyopathy type 1DD GO:0060125 negative regulation of growth hormone secretion biolink:OntologyClass mondo Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell. http://purl.obolibrary.org/obo/GO_0060125 MONDO:0001190 Brucella suis brucellosis biolink:Disease mondo DOID:11076 An disease or disorder caused by infection with Brucella suis. DOID:11076 http://purl.obolibrary.org/obo/MONDO_0001190 Brucella suis disease or disorder|Brucella suis infectious disease|Brucella suis caused disease or disorder MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O biolink:Disease mondo DOID:0110292|UMLS:C3150417|ICD10:G71.0|GARD:0012540|OMIM:613157|Orphanet:206564 Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. UMLS:C3150417|DOID:0110292|ORPHA:206564|http://identifiers.org/omim/613157 http://purl.obolibrary.org/obo/MONDO_0013161 muscular dystrophy, limb-girdle, type 2O|MDDGC3|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1|POMGNT1 autosomal recessive limb-girdle muscular dystrophy|LGMD2O|muscular dystrophy-dystroglycanopathy (limb-girdle) type C3|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; MDDGC3|muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3|muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related|limb-girdle muscular dystrophy type 2O ordo_disease MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N biolink:Disease mondo Orphanet:206559|GARD:0012539|OMIM:613158|ICD10:G71.0|UMLS:C3150418|DOID:0110298 Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability. DOID:0110298|UMLS:C3150418|ORPHA:206559|http://identifiers.org/omim/613158 http://purl.obolibrary.org/obo/MONDO_0013162 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2|muscular dystrophy, limb-girdle, type 2N|muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related|LGMD2N|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2|muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related|limb-girdle muscular dystrophy type 2N|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MDDGC2|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2|MDDGC2|POMT2 autosomal recessive limb-girdle muscular dystrophy ordo_disease MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2 biolink:Disease mondo UMLS:C3150416|OMIM:613156|NCIT:C126690 An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan. UMLS:C3150416|NCIT:C126690|http://identifiers.org/omim/613156 http://purl.obolibrary.org/obo/MONDO_0013160 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2; MDDGB2|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2; MDDGB2|congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2|congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2|MDDGB2|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2|muscular dystrophy, congenital, Pomt2-related MONDO:0013165 hereditary spastic paraplegia 45 biolink:Disease mondo ICD10:G11.4|Orphanet:320396|SCTID:765753004|UMLS:CN203996|DOID:0110797|OMIM:613162 Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. http://identifiers.org/omim/613162|UMLS:CN203996|ORPHA:320396|DOID:0110797|SNOMEDCT:765753004 http://purl.obolibrary.org/obo/MONDO_0013165 NT5C2 autosomal recessive complex spastic paraplegia|spastic paraplegia 45, autosomal recessive; SPG45|SPG65|autosomal recessive spastic paraplegia type 45|autosomal recessive complex spastic paraplegia caused by mutation in NT5C2|SPG45|spastic paraplegia 45, autosomal recessive|autosomal recessive spastic paraplegia 45|hereditary spastic paraplegia type 45|autosomal recessive spastic paraplegia type 65 ordo_disease MONDO:0013166 GABA aminotransferase deficiency biolink:Disease mondo Orphanet:2066|SCTID:237941007|ICD10:E72.8|UMLS:C0342708|OMIM:613163|HGNC:23|DOID:0060174|MESH:C535407|GARD:0000194 Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. http://identifiers.org/omim/613163|SNOMEDCT:237941007|ORPHA:2066|MESH:C535407|DOID:0060174|UMLS:C0342708 http://purl.obolibrary.org/obo/MONDO_0013166 4 alpha aminobutyrate transaminase deficiency|gamma-amino butyric acid transaminase deficiency|gamma-aminobutyric acid transaminase deficiency|GABA transaminase deficiency|GABAT|gamma aminobutyric acid transaminase deficiency|gamma aminobutyrate transaminase deficiency|GABA-transaminase deficiency|ABAT gard_rare|ordo_disease MONDO:0013163 nephronophthisis-like nephropathy 1 biolink:Disease mondo OMIM:613159|DOID:0111117|UMLS:C3150419 Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. DOID:0111117|UMLS:C3150419|http://identifiers.org/omim/613159 http://purl.obolibrary.org/obo/MONDO_0013163 NPHPL1|nephronophthisis-like nephropathy 1; NPHPL1|nephronophthisis (disease) caused by mutation in XPNPEP3|nephronophthisis-like nephropathy type 1|nephronophthisis-like nephropathy 1|XPNPEP3 nephronophthisis (disease) MONDO:0013164 beta-ureidopropionase deficiency biolink:Disease mondo MESH:C563210|Orphanet:65287|UMLS:C1291512|SCTID:124511000|ICD9:277.6|OMIM:613161|ICD10:E79.8 Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). SNOMEDCT:124511000|MESH:C563210|ORPHA:65287|UMLS:C1291512|http://identifiers.org/omim/613161 http://purl.obolibrary.org/obo/MONDO_0013164 BETA-ureidopropionase deficiency; UPB1D|Beta-alanine synthase deficiency|UPB1D|beta-ureidopropionase deficiency ordo_disease ENVO:01000875 precipitation process biolink:OntologyClass mondo A precipitation process is a process in which a portion of some substance segregates from a material in which that substance or its precursors were dissolved or suspended in and settles due to a force such as gravity or centrifugal force. http://purl.obolibrary.org/obo/ENVO_01000875 GO:1902339 positive regulation of apoptotic process involved in morphogenesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis. http://purl.obolibrary.org/obo/GO_1902339 activation of morphogenetic apoptosis|up regulation of apoptosis involved in development|up regulation of apoptosis involved in morphogenesis|positive regulation of apoptosis involved in morphogenesis|up-regulation of apoptotic process involved in morphogenesis|positive regulation of apoptosis involved in development|up-regulation of morphogenetic apoptosis|up regulation of apoptotic process involved in morphogenesis|upregulation of apoptosis involved in morphogenesis|upregulation of apoptosis involved in development|up regulation of morphogenetic apoptosis|activation of apoptotic process involved in morphogenesis|activation of apoptosis involved in morphogenesis|activation of apoptosis involved in development|positive regulation of morphogenetic apoptosis|upregulation of apoptotic process involved in morphogenesis|up-regulation of apoptosis involved in morphogenesis|up-regulation of apoptosis involved in development|upregulation of morphogenetic apoptosis GO:1902337 regulation of apoptotic process involved in morphogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis. http://purl.obolibrary.org/obo/GO_1902337 regulation of morphogenetic apoptosis|regulation of apoptosis involved in morphogenesis|regulation of apoptosis involved in development GO:1902338 negative regulation of apoptotic process involved in morphogenesis biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis. http://purl.obolibrary.org/obo/GO_1902338 down regulation of apoptotic process involved in morphogenesis|down regulation of morphogenetic apoptosis|inhibition of apoptosis involved in morphogenesis|inhibition of apoptosis involved in development|inhibition of apoptotic process involved in morphogenesis|downregulation of apoptotic process involved in morphogenesis|downregulation of morphogenetic apoptosis|negative regulation of apoptosis involved in morphogenesis|negative regulation of apoptosis involved in development|down-regulation of apoptosis involved in morphogenesis|down-regulation of apoptosis involved in development|inhibition of morphogenetic apoptosis|down regulation of apoptosis involved in development|down regulation of apoptosis involved in morphogenesis|down-regulation of apoptotic process involved in morphogenesis|downregulation of apoptosis involved in morphogenesis|down-regulation of morphogenetic apoptosis|negative regulation of morphogenetic apoptosis|downregulation of apoptosis involved in development GO:1902340 negative regulation of chromosome condensation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation. http://purl.obolibrary.org/obo/GO_1902340 down regulation of nuclear chromosome condensation|down-regulation of chromosome condensation|downregulation of eukaryotic chromosome condensation|downregulation of nuclear chromosome condensation|inhibition of nuclear chromosome condensation|down regulation of chromosome condensation|down regulation of eukaryotic chromosome condensation|inhibition of eukaryotic chromosome condensation|downregulation of chromosome condensation|inhibition of chromosome condensation|down-regulation of eukaryotic chromosome condensation|negative regulation of eukaryotic chromosome condensation|negative regulation of nuclear chromosome condensation|down-regulation of nuclear chromosome condensation GO:0060156 milk ejection reflex biolink:OntologyClass mondo A reflex that occurs in response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness. http://purl.obolibrary.org/obo/GO_0060156 milk ejection NCBITaxon:37816 Rickettsia honei organism taxon mondo PMID:8735110|GC_ID:11|PMID:9828442 http://purl.obolibrary.org/obo/NCBITaxon_37816 Flinders Island spotted fever rickettsia|Thai tick typhus rickettsia UBERON_CORE:indirectly_supplies indirectly_supplies biolink:OntologyClass mondo a indirectly_supplies s iff a has a branch and the branch supplies or indirectly supplies s http://purl.obolibrary.org/obo/uberon/core#indirectly_supplies HP:0010929 Abnormal blood cation concentration biolink:PhenotypicFeature mondo UMLS:C4023646 An abnormality of cation homeostasis. http://purl.obolibrary.org/obo/HP_0010929 Abnormality of cation homeostasis HP:0010927 Abnormal blood inorganic cation concentration biolink:PhenotypicFeature mondo UMLS:C4023648 An abnormality of divalent inorganic cation homeostasis. http://purl.obolibrary.org/obo/HP_0010927 Abnormality of divalent inorganic cation homeostasis NCBITaxon:2601530 Eutetramitia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2601530 GO:0098772 molecular function regulator biolink:OntologyClass mondo A molecular function that modulates the activity of a gene product or complex. Examples include enzyme regulators and channel regulators. http://purl.obolibrary.org/obo/GO_0098772 GO:0098773 skin epidermis development biolink:OntologyClass mondo The process whose specific outcome is the progression of the skin epidermis over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0098773 NCBITaxon:2601529 Tetramitia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2601529 GO:0098771 inorganic ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0098771 HP:0010914 Abnormal circulating valine concentration biolink:PhenotypicFeature mondo UMLS:C4023656 Any deviation from the normal circulation of valine in the blood circulation. http://purl.obolibrary.org/obo/HP_0010914 Abnormality of valine metabolism HP:0010911 Hyperleucinemia biolink:PhenotypicFeature mondo SNOMEDCT_US:24013007|UMLS:C0268576 An increased concentration of leucine in the blood. http://purl.obolibrary.org/obo/HP_0010911 High blood leucine concentration HP:0010910 Hypervalinemia biolink:PhenotypicFeature mondo SNOMEDCT_US:47719001|MSH:C536524|UMLS:C0268573 An increased concentration of valine in the blood. http://purl.obolibrary.org/obo/HP_0010910 High blood valine concentration HP:0010919 Abnormal circulating homocysteine concentration biolink:PhenotypicFeature mondo UMLS:C4023651 An abnormality of a homocysteine metabolic process. http://purl.obolibrary.org/obo/HP_0010919 NCBITaxon:1399770 Entomophthoromycetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1399770 HP:0010917 Abnormal circulating tyrosine concentration biolink:PhenotypicFeature mondo UMLS:C4023653 Any deviation from the normal concentration of tyrosine in the blood circulation. http://purl.obolibrary.org/obo/HP_0010917 ENVO:01000895 snowfall biolink:OntologyClass mondo A hydrological process in which irregular aggregates of snow fall to a planetary surface. http://purl.obolibrary.org/obo/ENVO_01000895 snow fall MONDO:0025193 oculopharyngodistal myopathy biolink:Disease mondo MESH:C563508|GARD:0012592|SCTID:763829004|ICD10:G71.0|OMIMPS:164310|UMLS:C1834014|Orphanet:98897 Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown. MESH:C563508|UMLS:C1834014|ORPHA:98897|SNOMEDCT:763829004 http://purl.obolibrary.org/obo/MONDO_0025193 oculopharyngodistal myopathy; OPDM|oculopharyngeal distal myopathy|oculopharyngodistal myopathy|OPDM|faciooculolaryngopharyngeal myopathy with distal and respiratory involvement gard_rare|ordo_disease|ordo_inheritance_inconsistent HGNC:12399 MYOT biolink:OntologyClass mondo http://identifiers.org/hgnc/12399 MONDO:0025190 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0025190 MONDO:0040797 obsolete vascular headache biolink:Disease mondo UMLS:C0042376|SCTID:128187005|MESH:D014653 An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS). SNOMEDCT:128187005|MESH:D014653|UMLS:C0042376 http://purl.obolibrary.org/obo/MONDO_0040797 vascular headache GO:0098754 detoxification biolink:OntologyClass mondo Any process that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance. http://purl.obolibrary.org/obo/GO_0098754 MONDO:0003788 childhood embryonal testis carcinoma biolink:Disease mondo NCIT:C6545|UMLS:C1333007|DOID:6162 An embryonal carcinoma that arises from the testis during childhood. NCIT:C6545|UMLS:C1333007|DOID:6162 http://purl.obolibrary.org/obo/MONDO_0003788 childhood testicular embryonal carcinoma|testicular embryonal carcinoma of childhood|pediatric testicular embryonal carcinoma|pediatric embryonal carcinoma of testis|pediatric embryonal carcinoma of the testis|childhood embryonal carcinoma of the testis|pediatric testicular embryonal carcinoma|childhood embryonal carcinoma of testis MONDO:0001125 acute gonococcal epididymo-orchitis biolink:Disease mondo SCTID:30168008|ICD9:098.13|UMLS:C0153193|DOID:10802 Acute form of gonococcal epididymo-orchitis. SNOMEDCT:30168008|UMLS:C0153193|DOID:10802 http://purl.obolibrary.org/obo/MONDO_0001125 gonococcal epididymo-orchitis (acute)|gonococcal epididymo-orchitis, acute|gonococcal epididymo-orchitis MONDO:0003789 hereditary papillary renal cell carcinoma biolink:Disease mondo NCIT:C9222|DOID:6163|UMLS:C0879257|SCTID:715561008 A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. UMLS:C0879257|DOID:6163|NCIT:C9222|SNOMEDCT:715561008 http://purl.obolibrary.org/obo/MONDO_0003789 hereditary papillary renal cell carcinoma|Hereditary Papillary renal cell cancer|hereditary papillary carcinoma of kidney|hereditary papillary carcinoma of the kidney|familial renal papillary carcinoma|hereditary papillary renal carcinoma|hereditary kidney papillary carcinoma MONDO:0001124 obsolete filariasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001124 MONDO:0001123 chronic sphenoidal sinusitis biolink:Disease mondo COHD:134661|NCIT:C34480|DOID:10793|UMLS:C0008712|ICD10:J32.3|SCTID:38961000|ICD9:473.3 Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. UMLS:C0008712|DOID:10793|SNOMEDCT:38961000|NCIT:C34480 http://purl.obolibrary.org/obo/MONDO_0001123 chronic sphenoid sinusitis|sphenoidal sinus-chr.|sphenoid sinusitis, chronic MONDO:0001122 chronic maxillary sinusitis biolink:Disease mondo UMLS:C0008698|SCTID:35923002|DOID:10792|COHD:134668|ICD10:J32.0|NCIT:C34477|ICD9:473.0 Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. DOID:10792|SNOMEDCT:35923002|NCIT:C34477|UMLS:C0008698 http://purl.obolibrary.org/obo/MONDO_0001122 maxillary sinusitis, chronic|chronic antritis MONDO:0003784 nasal cavity carcinoma in situ biolink:Disease mondo DOID:6148|ICD9:231.8|ICD10:D02.3|NCIT:C4589|SCTID:92663007|UMLS:C0347095 A in situ carcinoma that involves the nasal cavity. SNOMEDCT:92663007|UMLS:C0347095|NCIT:C4589|DOID:6148 http://purl.obolibrary.org/obo/MONDO_0003784 stage 0 nasal cavity carcinoma aJCC v8|carcinoma in situ of the nasal cavity|stage 0 nasal cavity carcinoma aJCC v7|stage 0 nasal cavity cancer|stage 0 nasal cavity carcinoma aJCC v6|stage 0 carcinoma of nasal cavity|carcinoma in situ of nasal cavity|stage 0 nasal cavity cancer aJCC v6, v7, and v8|stage 0 nasal cavity carcinoma|stage 0 carcinoma of the nasal cavity|nasal cavity carcinoma in situ|nasal cavity in situ carcinoma|carcinoma in situ of nasal cavities MONDO:0001129 nasal cavity olfactory neuroblastoma biolink:Disease mondo DOID:10812|UMLS:C1334923|NCIT:C7604 An olfactory neuroblastoma arising in the nasal cavity. NCIT:C7604|DOID:10812|UMLS:C1334923 http://purl.obolibrary.org/obo/MONDO_0001129 olfactory neuroblastoma of nasal cavity|olfactory neuroblastoma of the nasal cavity|nasal cavity olfactory neuroblastoma MONDO:0003785 leukopenia biolink:Disease mondo EFO:0004233|ICD10:D72.819|SCTID:84828003|COHD:435224|NCIT:C26816|UMLS:C0023530|ICD9:288.50|MESH:D007970|DOID:615 A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. UMLS:C0023530|SNOMEDCT:84828003|MESH:D007970|NCIT:C26816|DOID:615 http://purl.obolibrary.org/obo/MONDO_0003785 White blood cell decreased|leucopenia|leukocytopenia MONDO:0001128 nasal cavity cancer biolink:Disease mondo DOID:10811|ICD10:C30.0|UMLS:C0728864|SCTID:363422006|NCIT:C4918|ICD9:160.0|COHD:4177107 A malignant neoplasm involving the nasal cavity SNOMEDCT:363422006|UMLS:C0728864|NCIT:C4918|DOID:10811 http://purl.obolibrary.org/obo/MONDO_0001128 malignant tumor of nasal cavity|malignant neoplasm of nasal cavities|cancer of nasal cavity|malignant tumor of the nasal cavity|malignant neoplasm of nasal cavity|malignant nasal cavity neoplasm|nasal cavity cancer|malignant neoplasm of the nasal cavity|malignant nasal cavity tumor MONDO:0003786 childhood testicular choriocarcinoma biolink:Disease mondo UMLS:C1333006|NCIT:C6544|DOID:6160 A choriocarcinoma that arises from the testis during childhood. NCIT:C6544|UMLS:C1333006|DOID:6160 http://purl.obolibrary.org/obo/MONDO_0003786 pediatric choriocarcinoma of the testis|childhood choriocarcinoma of testis|pediatric choriocarcinoma of testis|childhood choriocarcinoma of the testis|choriocarcinoma of testis of childhood|childhood testicular choriocarcinoma|pediatric choriocarcinoma of testis|pediatric testicular choriocarcinoma MONDO:0001127 tibialis tendinitis biolink:Disease mondo DOID:10810|ICD9:726.72|SCTID:50127006|UMLS:C0158321|COHD:77081 A tendinitis that involves the tibialis. SNOMEDCT:50127006|DOID:10810|UMLS:C0158321 http://purl.obolibrary.org/obo/MONDO_0001127 tendinitis of tibialis|tibialis tendinitis MONDO:0003787 childhood testicular mixed germ cell cancer biolink:Disease mondo NCIT:C6542|DOID:6161|UMLS:C1333009 A malignant mixed germ cell neoplasm that arises from the testis during childhood. NCIT:C6542|UMLS:C1333009|DOID:6161 http://purl.obolibrary.org/obo/MONDO_0003787 childhood testicular mixed germ cell neoplasm|pediatric mixed testicular germ cell cancer|pediatric mixed testicular germ cell cancer|childhood testicular mixed germ cell tumor|childhood mixed testicular germ cell cancer|pediatric testicular mixed germ cell neoplasm|pediatric testicular mixed germ cell tumor|mixed testicular germ cell cancer of childhood MONDO:0001126 gastric ulcer (disease) biolink:Disease mondo NCIT:C3388|MESH:D013276|ICD9:531|SCTID:397825006|DOID:10808|HP:0002592|UMLS:C0038358|ICD10:K25|COHD:4265600 An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. SNOMEDCT:397825006|NCIT:C3388|DOID:10808|MESH:D013276|UMLS:C0038358 http://purl.obolibrary.org/obo/MONDO_0001126 acute gastric ulcer with hemorrhage and obstruction|chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction|acute gastric ulcer with hemorrhage and with perforation but without obstruction|acute gastric ulcer with perforation|chronic gastric ulcer without hemorrhage and without perforation but with obstruction|acute gastric ulcer with hemorrhage and perforation|acute gastric ulcer with hemorrhage, with perforation and with obstruction|acute gastric ulcer with haemorrhage and perforation|acute gastric ulcer without hemorrhage, without perforation and without obstruction|acute gastric ulcer with perforation, with obstruction|peptic ulcer disease of stomach|stomach peptic ulcer disease|acute gastric ulcer with perforation and obstruction|acute gastric ulcer without hemorrhage and without perforation|acute gastric ulcer with hemorrhage and perforation, with obstruction|acute gastric ulcer with hemorrhage, with obstruction|gastric ulcer|acute gastric ulcer with hemorrhage and perforation, without mention of obstruction|bleeding acute gastric ulcer|chronic gastric ulcer without hemorrhage and without perforation|acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction HGNC:7160 MMP14 biolink:OntologyClass mondo http://identifiers.org/hgnc/7160 NCBITaxon:11229 Morbillivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11229 Morbilliviruses MONDO:0003780 T-cell immunodeficiency biolink:Disease mondo UMLS:C1274233|DOID:613|NCIT:C27145|SCTID:402792003 A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. UMLS:C1274233|DOID:613|SNOMEDCT:402792003|NCIT:C27145 http://purl.obolibrary.org/obo/MONDO_0003780 T lymphocyte deficiency|T-lymphocyte deficiency (finding)|T-cell immunodeficiency|T-lymphocyte deficiency|T-lymphocyte immunodeficiency MONDO:0003781 bronchitis biolink:Disease mondo CSP:2596-1500|ICD10:J42|ICD10:J20|COHD:256451|ICD10:J40|DOID:6132|UMLS:C0006277|ICD10:J20.9|EFO:0009661|ICD9:491|ICD9:491.9|NCIT:C2911|ICD9:490|SCTID:32398004|ICD9:466.0|MESH:D001991 An acute or chronic inflammatory process affecting the bronchi. DOID:6132|NCIT:C2911|SNOMEDCT:32398004|MESH:D001991|UMLS:C0006277 http://purl.obolibrary.org/obo/MONDO_0003781 bronchus inflammation|CI - chest infection|inflammation of bronchus|acute bronchitis|bronchial infection|chest infection|chest cold|acute bronchitis and bronchiolitis|recurrent wheezy bronchitis|chronic bronchitis MONDO:0003782 uterine corpus epithelioid leiomyosarcoma biolink:Disease mondo ONCOTREE:UELMS|NCIT:C40174|UMLS:C1519851|DOID:6139 A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. UMLS:C1519851|DOID:6139|NCIT:C40174 http://purl.obolibrary.org/obo/MONDO_0003782 uterine corpus epithelioid leiomyosarcoma|body of uterus epithelioid leiomyosarcoma|epithelioid leiomyosarcoma of body of uterus|uterine epithelioid leiomyosarcoma MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 biolink:Disease mondo OMIM:613067|UMLS:C2751593 UMLS:C2751593|http://identifiers.org/omim/613067 http://purl.obolibrary.org/obo/MONDO_0013109 leukemia, acute lymphoblastic, susceptibility to, 2; ALL2|leukemia, acute lymphoblastic, susceptibility to, 2|leukemia, acute lymphocytic, susceptibility to, 2|ALL2 predisposition MONDO:0003783 lymphopenia (disease) biolink:Disease mondo SCTID:48813009|ICD9:288.8|UMLS:C0024312|ICD10:D72.810|ICD9:288.51|HP:0001888|DOID:614|MESH:D008231|COHD:441541 Reduction in the number of lymphocytes. SNOMEDCT:48813009|MESH:D008231|DOID:614|UMLS:C0024312 http://purl.obolibrary.org/obo/MONDO_0003783 lymphocytopenia|lymphopenia MONDO:0001121 frontal sinusitis biolink:Disease mondo MESH:D015522|SCTID:78737005|DOID:10791|NCIT:C34626|ICD10:J32.1|UMLS:C0016735 An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus. SNOMEDCT:78737005|DOID:10791|UMLS:C0016735|MESH:D015522|NCIT:C34626 http://purl.obolibrary.org/obo/MONDO_0001121 MONDO:0027751 serpinopathy with loss of serpin function biolink:Disease mondo Orphanet:250811 ORPHA:250811 http://purl.obolibrary.org/obo/MONDO_0027751 ordo_group_of_disorders GO:0050709 negative regulation of protein secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. http://purl.obolibrary.org/obo/GO_0050709 down-regulation of protein secretion|down regulation of protein secretion|inhibition of protein secretion|downregulation of protein secretion ENVO:2100000 anatomical entity environment biolink:OntologyClass mondo An environment which is determined by an anatomical entity. http://purl.obolibrary.org/obo/ENVO_2100000 MONDO:0001120 chronic frontal sinusitis biolink:Disease mondo NCIT:C34473|COHD:139841|DOID:10790|ICD9:473.1|ICD10:J32.1|UMLS:C0008683|SCTID:60130002 Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. DOID:10790|NCIT:C34473|SNOMEDCT:60130002|UMLS:C0008683 http://purl.obolibrary.org/obo/MONDO_0001120 frontal sinusitis, chronic GO:0050708 regulation of protein secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell. http://purl.obolibrary.org/obo/GO_0050708 MONDO:0027750 serpinopathy with toxic serpin polymerization biolink:Disease mondo Orphanet:250808 ORPHA:250808 http://purl.obolibrary.org/obo/MONDO_0027750 ordo_group_of_disorders MONDO:0015777 adult hypothyroidism biolink:Disease mondo Orphanet:177101|UMLS:CN226738 A hypothyroidism that occurs in an adult. ORPHA:177101|UMLS:CN226738 http://purl.obolibrary.org/obo/MONDO_0015777 rare adult hypothyroidism ordo_group_of_disorders MONDO:0013114 autosomal dominant nonsyndromic deafness 50 biolink:Disease mondo DOID:0110576|OMIM:613074|ICD10:H90.3 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32. DOID:0110576|http://identifiers.org/omim/613074 http://purl.obolibrary.org/obo/MONDO_0013114 deafness, autosomal dominant type 50|deafness, autosomal dominant 50; DFNA50|DFNA50|autosomal dominant deafness 50|deafness, autosomal dominant 50|autosomal dominant nonsyndromic deafness type 50 clingen MONDO:0013115 RIN2 syndrome biolink:Disease mondo OMIM:613075|ICD10:Q82.8|Orphanet:217335|MESH:C567770|SCTID:723367005|UMLS:C2751321 RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. UMLS:C2751321|ORPHA:217335|SNOMEDCT:723367005|http://identifiers.org/omim/613075|MESH:C567770 http://purl.obolibrary.org/obo/MONDO_0013115 tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macrocephaly, alopecia, cutis laxa, and scoliosis|MACS syndrome|RIN2 deficiency ordo_malformation_syndrome MONDO:0015776 rhizomelic chondrodysplasia punctata biolink:Disease mondo UMLS:C0282529|DOID:2580|ICD10:E71.540|OMIMPS:215100|SCTID:56692003|Orphanet:177|GARD:0013160|NCIT:C85047|MESH:D018902|ICD10:Q77.3 Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. NCIT:C85047|DOID:2580|MESH:D018902|SNOMEDCT:56692003|ORPHA:177|UMLS:C0282529 http://purl.obolibrary.org/obo/MONDO_0015776 RCDP|rhizomelic chondrodysplasia punctata syndrome|chondrodysplasia punctata, rhizomelic form|rhizomelic dwarfism ordo_disease|gard_rare MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 biolink:Disease mondo MESH:C567772|UMLS:C2751324|OMIM:613071 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene. UMLS:C2751324|http://identifiers.org/omim/613071|MESH:C567772 http://purl.obolibrary.org/obo/MONDO_0013112 BESC3|bronchiectasis with or without elevated sweat chloride 3|bronchiectasis with or without elevated sweat chloride 3; BESC3|bronchiectasis with or without elevated sweat chloride type 3|SCNN1G bronchiectasis|bronchiectasis caused by mutation in SCNN1G|cystic fibrosis-like syndrome CHEBI:62488 signalling molecule biolink:ChemicalSubstance mondo A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell. http://purl.obolibrary.org/obo/CHEBI_62488 signaling molecules|signal molecules|signal molecule|signaling molecule|signalling molecules MONDO:0015775 non-rhizomelic chondrodysplasia punctata biolink:Disease mondo Orphanet:176|ICD10:Q77.3 Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission. ORPHA:176 http://purl.obolibrary.org/obo/MONDO_0015775 ordo_group_of_disorders MONDO:0013113 metaphyseal anadysplasia 2 biolink:Disease mondo MESH:C567771|OMIM:613073|UMLS:C2751322 Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene. UMLS:C2751322|http://identifiers.org/omim/613073|MESH:C567771 http://purl.obolibrary.org/obo/MONDO_0013113 metaphyseal anadysplasia type 2|metaphyseal anadysplasia 2; MANDP2|metaphyseal anadysplasia caused by mutation in MMP9|MMP9 metaphyseal anadysplasia|MANDP2|metaphyseal anadysplasia 2 MONDO:0015774 thoraco-abdominal enteric duplication biolink:Disease mondo SCTID:733628001|Orphanet:1759|GARD:0005181|ICD10:Q43.4 Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. SNOMEDCT:733628001|ORPHA:1759 http://purl.obolibrary.org/obo/MONDO_0015774 thoraco abdominal enteric duplication ordo_malformation_syndrome|gard_rare MONDO:0013118 Nijmegen breakage syndrome-like disorder biolink:Disease mondo OMIM:613078|Orphanet:240760|NCIT:C153178|SCTID:766753005|UMLS:C2751318|MESH:C567767 Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. UMLS:C2751318|ORPHA:240760|NCIT:C153178|http://identifiers.org/omim/613078|SNOMEDCT:766753005|MESH:C567767 http://purl.obolibrary.org/obo/MONDO_0013118 NBSLD|Nijmegen breakage syndrome-like disorder; NBSLD|NBs-like disorder|NBs-like disorder|microcephaly and chromosomal instability without immunodeficiency|RAD50 deficiency|Rad50 deficiency|microcephaly and spontaneous chromosome instability without immunodeficiency|Nijmegen breakage syndrome-like disorder ordo_malformation_syndrome MONDO:0013119 autosomal recessive nonsyndromic deafness 77 biolink:Disease mondo ICD10:H90.3|UMLS:C2746083|OMIM:613079|MESH:C567543|DOID:0110525 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene. UMLS:C2746083|DOID:0110525|http://identifiers.org/omim/613079|MESH:C567543 http://purl.obolibrary.org/obo/MONDO_0013119 autosomal recessive deafness 77|autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1|deafness, autosomal recessive type 77|LOXHD1 autosomal recessive nonsyndromic deafness|DFNB77|deafness, autosomal recessive 77; DFNB77|deafness, autosomal recessive 77|autosomal recessive nonsyndromic deafness type 77 MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis biolink:Disease mondo Orphanet:1772|ICD10:Q98.7|NCIT:C120199 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. NCIT:C120199|ORPHA:1772 http://purl.obolibrary.org/obo/MONDO_0015779 45,X0/46,XY mixed gonadal dysgenesis|45,X/46,XY disorder of Sex development|45,X0/46,XY MGD|XY/X0|45,X/46,XY gonadal dysgenesis|Mixed gonadal dysgenesis|45,X/46,XY MGD ordo_malformation_syndrome MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome biolink:Disease mondo OMIM:613076|UMLS:C2751320|Orphanet:330054|ICD10:G71.3|MESH:C567769|GARD:0010522 ORPHA:330054|UMLS:C2751320|http://identifiers.org/omim/613076|MESH:C567769 http://purl.obolibrary.org/obo/MONDO_0013116 myopathy with cataract and combined respiratory-chain deficiency|myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay|mitochondrial Complex deficiency, combined|myopathy with cataract and combined respiratory chain deficiency|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome ordo_disease MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 biolink:Disease mondo OMIM:613077|UMLS:C2751319|MESH:C567768 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene. UMLS:C2751319|http://identifiers.org/omim/613077|MESH:C567768 http://purl.obolibrary.org/obo/MONDO_0013117 PEOA5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5; PEOA5|RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5|progressive external ophthalmoplegia, autosomal dominant 5|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B MONDO:0015778 syndromic hypothyroidism biolink:Disease mondo UMLS:CN226739|Orphanet:177107 A hypothyroidism that is part of a larger syndrome. ORPHA:177107|UMLS:CN226739 http://purl.obolibrary.org/obo/MONDO_0015778 syndrome associated with hypothyroidism|syndromic hypothyroidism|syndrome associated with hypothyroidism ordo_group_of_disorders HGNC:12372 TSHB biolink:OntologyClass mondo http://identifiers.org/hgnc/12372 HGNC:12371 RSPH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12371 MONDO:0040728 Campylobacter fetus infectious disease biolink:Disease mondo SCTID:111835002|UMLS:C0275979 UMLS:C0275979|SNOMEDCT:111835002 http://purl.obolibrary.org/obo/MONDO_0040728 infection caused by vibrio fetus|infection caused by Campylobacter fetus|infection by vibrio fetus|infection by Campylobacter fetus HGNC:7165 MMP19 biolink:OntologyClass mondo http://identifiers.org/hgnc/7165 HGNC:12370 CEP41 biolink:OntologyClass mondo http://identifiers.org/hgnc/12370 MONDO:0001119 premature menopause biolink:Disease mondo ICD9:256.31|ICD10:E28.31|SCTID:237788002|ICD9:256.39|DOID:10787|NCIT:C80099|MESH:D008594|COHD:198715|UMLS:C0025322|ICD10:E28.319 Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. NCIT:C80099|UMLS:C0025322|MESH:D008594|SNOMEDCT:237788002|DOID:10787 http://purl.obolibrary.org/obo/MONDO_0001119 early menopause|menopause praecox|POF|premature menopause|premature ovarian failure|menopause - premature MONDO:0015773 fibular dimelia-diplopodia syndrome biolink:Disease mondo UMLS:CN200350|Orphanet:1757|ICD10:Q74.8|SCTID:720953006 Fibular dimelia-diplopodia syndrome is a rare developmental anomaly. SNOMEDCT:720953006|UMLS:CN200350|ORPHA:1757 http://purl.obolibrary.org/obo/MONDO_0015773 leg duplication-mirror foot syndrome ordo_malformation_syndrome HGNC:7167 MMP20 biolink:OntologyClass mondo http://identifiers.org/hgnc/7167 MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency biolink:Disease mondo DOID:0050719|MESH:C567791|GARD:0010594|ICD9:266.2|OMIM:613068|SCTID:711403001|Orphanet:217382|ICD10:G31.8 SNOMEDCT:711403001|ORPHA:217382|http://identifiers.org/omim/613068|MESH:C567791|DOID:0050719 http://purl.obolibrary.org/obo/MONDO_0013110 cerebral folate transport deficiency|neurodegeneration due to cerebral folate TRANSPORT deficiency|cerebral folate deficiency syndrome|cerebral folate receptor alpha deficiency ordo_disease MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins biolink:Disease mondo UMLS:C3278664|Orphanet:217371|OMIM:613070|ICD10:K72.0|GARD:0010593 Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. UMLS:C3278664|ORPHA:217371|http://identifiers.org/omim/613070 http://purl.obolibrary.org/obo/MONDO_0013111 transient infantile liver failure|acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins|acute infantile liver failure|infantile liver failure caused by mutation in TRMU|liver failure, infantile, transient|liver failure, infantile, transient; LFIT|LFIT|TRMU infantile liver failure ordo_disease MONDO:0015772 trisomy 8q biolink:Disease mondo GARD:0005362|MESH:C538020|NCIT:C36428|UMLS:C0795829|Orphanet:1752|ICD10:Q92.2 Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size. MESH:C538020|NCIT:C36428|UMLS:C0795829|ORPHA:1752 http://purl.obolibrary.org/obo/MONDO_0015772 8q duplication|partial trisomy 8q|Duplication 8q|trisomy type 8q|chromosome 8q duplication|8q trisomy ordo_malformation_syndrome HGNC:7166 MMP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7166 MONDO:0015771 mosaic trisomy 7 biolink:Disease mondo GARD:0005354|ICD10:Q92.1|Orphanet:1747|MESH:C537822|SCTID:764630003|UMLS:CN036006 Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. UMLS:C2931631|SNOMEDCT:764630003|ORPHA:1747|MESH:C537822|UMLS:CN036006 http://purl.obolibrary.org/obo/MONDO_0015771 trisomy 7 mosaicism|Mosaic trisomy chromosome 7|Mosaic trisomy type 7 gard_rare|ordo_malformation_syndrome MONDO:0015770 congenital hypogonadotropic hypogonadism biolink:Disease mondo Orphanet:174590|SCTID:722944006|NCIT:C120162|ICD10:E23.0|UMLS:C3899503 Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). SNOMEDCT:722944006|NCIT:C120162|UMLS:C3899503|ORPHA:174590 http://purl.obolibrary.org/obo/MONDO_0015770 ordo_group_of_disorders HGNC:12373 TSHR biolink:OntologyClass mondo http://identifiers.org/hgnc/12373 MONDO:0003799 conjunctivitis (disease) biolink:Disease mondo ICD10:H10|ICD9:372.39|UMLS:C0009763|MESH:D003231|ICD10:H10.9|HP:0000509|DOID:6195|NCIT:C34504|ICD9:372.30|COHD:379019|SCTID:9826008 Inflammation of the conjunctiva of the eye. MESH:D003231|SNOMEDCT:9826008|DOID:6195|NCIT:C34504|UMLS:C0009763 http://purl.obolibrary.org/obo/MONDO_0003799 conjunctivitis|conjunctiva inflammation|inflammation of conjunctiva|pink eye|Madras eye MONDO:0001136 chylocele of tunica vaginalis biolink:Disease mondo COHD:435602|UMLS:C0156315|SCTID:7864001|ICD9:608.84|DOID:10835 UMLS:C0156315|DOID:10835|SNOMEDCT:7864001 http://purl.obolibrary.org/obo/MONDO_0001136 NCBITaxon:11232 Canine morbillivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11232 canine distemper virus CDV|Canine distemper virus|CDV MONDO:0001135 voyeurism biolink:Disease mondo MESH:D014843|ICD10:F65.3|NCIT:C94360|SCTID:63835008|DOID:10834|ICD9:302.82 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity. SNOMEDCT:63835008|DOID:10834|NCIT:C94360|MESH:D014843 http://purl.obolibrary.org/obo/MONDO_0001135 NCBITaxon:11234 Measles morbillivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11234 Cell-associated subacute sclerosing panencephalitis|subacute sclerose panencephalitis virus|rougeole virus|subacute sclerosing panencephalitis virus, SSPEV|Subacute sclerosing panencephalitis virus|Measles virus|measles virus MV|rubeola virus MONDO:0001134 essential hypertension biolink:Disease mondo SCTID:59621000|EFO:1002032|UMLS:C0085580|MESH:C562386|ICD9:401|ICD9:401.9|DOID:10825|COHD:320128|ICD10:I10 Hypertension that presents without an identifiable cause. MESH:C562386|NCIT:C3478|DOID:10825|SNOMEDCT:59621000|UMLS:C0085580 http://purl.obolibrary.org/obo/MONDO_0001134 idiopathic hypertension|primary hypertension MONDO:0001133 malignant essential hypertension biolink:Disease mondo ICD9:401.0|UMLS:C0024588|COHD:317898|SCTID:78975002|DOID:10823 Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure. SNOMEDCT:78975002|DOID:10823|NCIT:C34802|UMLS:C0024588 http://purl.obolibrary.org/obo/MONDO_0001133 malignant essential hypertension|accelerated essential hypertension MONDO:0003795 ovarian small cell carcinoma biolink:Disease mondo DOID:6179|UMLS:C2212006|ONCOTREE:SCCO|ICD10:C56|NCIT:C27390|EFO:1000431|Orphanet:370396|GARD:0010411 A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type. NCIT:C27390|ORPHA:370396|DOID:6179|UMLS:C2212006 http://purl.obolibrary.org/obo/MONDO_0003795 ovarian small cell neuroendocrine carcinoma|ovarian small cell cancer|small cell ovarian carcinoma|ovarian small cell carcinoma|ovarian small cell NEC|small cell carcinoma of ovary|small cell carcinoma of the ovary|ovary small cell carcinoma|SCCO ordo_disease MONDO:0001139 sexual masochism disorder biolink:Disease mondo ICD9:302.83|ICD10:F65.51|MESH:D008398|NCIT:C94356|DOID:10849|SCTID:51239001 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer. SNOMEDCT:51239001|DOID:10849|NCIT:C94356|MESH:D008398 http://purl.obolibrary.org/obo/MONDO_0001139 sexual masochism MONDO:0003796 rectum Kaposi sarcoma biolink:Disease mondo UMLS:C1335681|NCIT:C5550|DOID:6190 A Kaposi sarcoma arising from the rectum. NCIT:C5550|UMLS:C1335681|DOID:6190 http://purl.obolibrary.org/obo/MONDO_0003796 rectal Kaposi's sarcoma|rectum Kaposi's sarcoma (disease)|rectum Kaposi's sarcoma|Kaposi's sarcoma (disease) of rectum|rectum Kaposi sarcoma|rectal Kaposi sarcoma|Kaposi's sarcoma of the rectum|Kaposi's sarcoma of rectum MONDO:0027749 serpinopathy biolink:Disease mondo Orphanet:250805 ORPHA:250805 http://purl.obolibrary.org/obo/MONDO_0027749 ordo_group_of_disorders MONDO:0001138 angiodysplasia of intestine biolink:Disease mondo ICD9:569.84|SCTID:235853006|UMLS:C0267367|ICD9:569.85|COHD:196444|DOID:10846 A angiodysplasia that involves the intestine. SNOMEDCT:235853006|DOID:10846|UMLS:C0267367 http://purl.obolibrary.org/obo/MONDO_0001138 intestine angiodysplasia MONDO:0003797 obsolete inflammatory MFH biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003797 MONDO:0001137 Murray valley encephalitis biolink:Disease mondo ICD10:A83.4|DOID:10842|SCTID:66454007|ICD9:062.4|UMLS:C0153066 An disease caused by infection with Murray Valley encephalitis virus. UMLS:C0153066|DOID:10842|SNOMEDCT:66454007 http://purl.obolibrary.org/obo/MONDO_0001137 Murray Valley encephalitis virus disease or disorder|Australian X disease|Murray Valley encephalitis virus infectious disease|Murray Valley encephalitis virus caused disease or disorder|Australian encephalitis MONDO:0003798 obsolete epithelioid sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003798 MONDO:0003791 prostatic urethral cancer biolink:Disease mondo DOID:6167|UMLS:C1514523|NCIT:C39870 A male urethral cancer that involves the prostatic urethra. NCIT:C39870|DOID:6167|UMLS:C1514523 http://purl.obolibrary.org/obo/MONDO_0003791 prostatic urethra male urethral cancer|prostatic urethral malignant neoplasm|male urethral cancer of prostatic urethra MONDO:0003792 ovarian carcinosarcoma biolink:Disease mondo GARD:0007296|ICD10:C56|ONCOTREE:OCS|NCIT:C9192|EFO:1000412|SCTID:702368000|DOID:6170|UMLS:C0392998|Orphanet:213512 A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements. DOID:6170|UMLS:C0392998|NCIT:C9192|SNOMEDCT:702368000|ORPHA:213512 http://purl.obolibrary.org/obo/MONDO_0003792 ovarian malignant mixed mesodermal (Mullerian) tumor|ovarian malignant mixed Müllerian tumor|carcinosarcoma of the ovary|malignant mixed mesodermal Müllerian tumor of the ovary|carcinosarcoma of ovary|ovarian malignant mesodermal (Müllerian) mixed tumor|ovarian malignant mixed epithelial mesenchymal tumor|malignant mixed mesodermal Müllerian tumor of ovary|ovarian malignant mixed Mullerian neoplasm|malignant mixed mesodermal Müllerian neoplasm of the ovary|ovarian malignant mixed mesodermal Müllerian tumor|malignant mixed mesodermal Müllerian neoplasm of ovary|ovarian carcinosarcoma/malignant mixed mesodermal tumor|ovarian MMMT|ovarian malignant mixed mesodermal Müllerian neoplasm|ovarian malignant mesodermal (mullerian) mixed tumor|ovarian carcinosarcoma|ovarian malignant mixed mesodermal (Müllerian) tumor|malignant mixed mesodermal Mullerian tumor of the ovary|ovarian malignant mesodermal (Mullerian) mixed tumor|malignant mixed mesodermal Mullerian tumor of ovary|MMMT of the ovary|malignant mixed Müllerian tumor of the ovary|ovarian malignant mixed Mullerian tumor|ovarian malignant mixed Müllerian neoplasm|malignant mixed mesodermal Mullerian neoplasm of the ovary|ovary carcinosarcoma|malignant mixed mesodermal Mullerian neoplasm of ovary|ovarian malignant mixed mesodermal Mullerian tumor|ovarian malignant mixed mesodermal Mullerian neoplasm ordo_disease GO:0050714 positive regulation of protein secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. http://purl.obolibrary.org/obo/GO_0050714 upregulation of protein secretion|up-regulation of protein secretion|up regulation of protein secretion|activation of protein secretion|stimulation of protein secretion MONDO:0003793 obsolete uterine carcinosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003793 MONDO:0003794 obsolete mediastinal neurilemmoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003794 MONDO:0001132 sexual sadism disorder biolink:Disease mondo ICD10:F65.52|ICD9:302.84|NCIT:C94358|DOID:10817|MESH:D012448|SCTID:59394009 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual. SNOMEDCT:59394009|DOID:10817|NCIT:C94358|MESH:D012448 http://purl.obolibrary.org/obo/MONDO_0001132 sexual sadism MONDO:0001131 obsolete duodenum adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001131 MONDO:0001130 nasal cavity lymphoma biolink:Disease mondo NCIT:C6074|UMLS:C1334921|DOID:10813 A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area. DOID:10813|UMLS:C1334921|NCIT:C6074 http://purl.obolibrary.org/obo/MONDO_0001130 nasal cavity lymphoma|primary nasal cavity lymphoma|lymphoma of nasal cavity|lymphoma of the nasal cavity MONDO:0003790 prostatic urethra urothelial carcinoma biolink:Disease mondo DOID:6166|NCIT:C39900|UMLS:C1514522 An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra. NCIT:C39900|DOID:6166|UMLS:C1514522 http://purl.obolibrary.org/obo/MONDO_0003790 prostatic urethra urothelial carcinoma MONDO:0015766 cholera biolink:Disease mondo ICD10:A00|MedDRA:10008631|ICD10:A00.9|ICD9:001.0|SCTID:63650001|MESH:D002771|GARD:0006043|Orphanet:173|UMLS:C0008354|COHD:198677|ICD9:001|ICD9:001.9|DOID:1498|ICD10:A00.0|ICD10:A00.1 Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated. DOID:1498|SNOMEDCT:63650001|MEDDRA:10008631|MESH:D002771|ORPHA:173|UMLS:C0008354 http://purl.obolibrary.org/obo/MONDO_0015766 Vibrio cholerae infection|cholera due to Vibrio cholerae|Vibrio cholerae infectious disease|Vibrio cholerae caused disease or disorder|Vibrio cholerae|cholera - Vibrio cholerae|Vibrio cholerae disease or disorder ordo_disease|gard_rare MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 biolink:Disease mondo OMIM:613060 Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRD gene. http://identifiers.org/omim/613060 http://purl.obolibrary.org/obo/MONDO_0013103 epilepsy, juvenile myoclonic, susceptibility to, 7|Gefsp5, susceptibility to|generalized epilepsy with febrile seizures plus, type 5, susceptibility to|juvenile myoclonic epilepsy caused by mutation in GABRD|EIG10|Gefs+, type 5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, 10; EIG10|epilepsy, idiopathic generalized, susceptibility to, type 10|susceptibility to idiopathic generalized epilepsy 10|Gefs+5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, 10|GABRD juvenile myoclonic epilepsy predisposition MONDO:0013104 BCC4 biolink:Disease mondo UMLS:C2751602|OMIM:613061 UMLS:C2751602|http://identifiers.org/omim/613061 http://purl.obolibrary.org/obo/MONDO_0013104 basal cell carcinoma, susceptibility to, 4; BCC4|BCC4|basal cell carcinoma, susceptibility to, 4 predisposition MONDO:0015765 congenital myopathy with cores biolink:Disease mondo ICD10:G71.2|Orphanet:172976 ORPHA:172976 http://purl.obolibrary.org/obo/MONDO_0015765 ordo_group_of_disorders MONDO:0040732 Pseudomonas aeruginosa infectious disease biolink:Disease mondo SCTID:11218009|UMLS:C0276075 UMLS:C0276075|SNOMEDCT:11218009 http://purl.obolibrary.org/obo/MONDO_0040732 infection caused by Pseudomonas aeruginosa|infection due to Pseudomonas aeruginosa MONDO:0015764 mosaic trisomy 20 biolink:Disease mondo ICD10:Q92.1|Orphanet:1724 Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. ORPHA:1724 http://purl.obolibrary.org/obo/MONDO_0015764 Mosaic trisomy type 20|Mosaic trisomy chromosome 20 ordo_malformation_syndrome MONDO:0013101 BCC2 biolink:Disease mondo OMIM:613058|UMLS:C2751606 UMLS:C2751606|http://identifiers.org/omim/613058 http://purl.obolibrary.org/obo/MONDO_0013101 BCC2|basal cell carcinoma, susceptibility to, 2|basal cell carcinoma, susceptibility to, 2; BCC2 predisposition MONDO:0015763 mosaic trisomy 2 biolink:Disease mondo GARD:0005331|ICD10:Q92.1|SCTID:764623009|UMLS:CN073991|Orphanet:1723 Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. SNOMEDCT:764623009|ORPHA:1723|UMLS:CN073991 http://purl.obolibrary.org/obo/MONDO_0015763 Mosaic trisomy type 2|trisomy 2 mosaicism|Mosaic trisomy chromosome 2 ordo_malformation_syndrome MONDO:0013102 BCC3 biolink:Disease mondo OMIM:613059|UMLS:C2751605 UMLS:C2751605|http://identifiers.org/omim/613059 http://purl.obolibrary.org/obo/MONDO_0013102 BCC3|basal cell carcinoma, susceptibility to, 3|basal cell carcinoma, susceptibility to, 3; BCC3 predisposition MONDO:0013107 atopic dermatitis 7 biolink:Disease mondo MESH:C567796|DOID:0110103|OMIM:613064|UMLS:C2751599 An atopic dermatitis associated with variation in the region 11q13.5. MESH:C567796|DOID:0110103|UMLS:C2751599|http://identifiers.org/omim/613064 http://purl.obolibrary.org/obo/MONDO_0013107 atopic dermatitis type 7|dermatitis, ATOPIC, 7; ATOD7|ATOD7|dermatitis, ATOPIC, 7 MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 biolink:Disease mondo OMIM:613065|UMLS:C2751595 UMLS:C2751595|http://identifiers.org/omim/613065 http://purl.obolibrary.org/obo/MONDO_0013108 leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to|ALL|leukemia, acute lymphoblastic; ALL|All1|leukemia, T-cell acute lymphoblastic, susceptibility to|leukemia, acute lymphoblastic, susceptibility to, 1|leukemia, B-cell acute lymphoblastic, susceptibility to|leukemia, acute lymphocytic, susceptibility to, 1|leukemia, acute lymphoblastic predisposition MONDO:0015769 distal trisomy 6p biolink:Disease mondo ICD10:Q92.3|SCTID:722430008|Orphanet:1745|UMLS:C4302551 Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. ORPHA:1745|UMLS:C4302551|SNOMEDCT:722430008 http://purl.obolibrary.org/obo/MONDO_0015769 telomeric duplication 6p|distal duplication 6p|distal trisomy type 6p|trisomy 6pter ordo_malformation_syndrome MONDO:0015768 trisomy 5p biolink:Disease mondo ICD10:Q92.2|GARD:0006093|Orphanet:1742 Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit. ORPHA:1742 http://purl.obolibrary.org/obo/MONDO_0015768 5p duplication|trisomy of the short arm of chromosome 5|partial trisomy 5p|Duplication 5p|chromosome 5p duplication|trisomy type 5p|5p trisomy|Duplication of the short arm of chromosome 5 ordo_malformation_syndrome MONDO:0013105 BCC5 biolink:Disease mondo UMLS:C2751601|OMIM:613062 UMLS:C2751601|http://identifiers.org/omim/613062 http://purl.obolibrary.org/obo/MONDO_0013105 basal cell carcinoma, susceptibility to, 5; BCC5|BCC5|basal cell carcinoma, susceptibility to, 5 predisposition MONDO:0015767 trisomy 4p biolink:Disease mondo ICD10:Q92.2|Orphanet:1738|GARD:0006091|MESH:C537643 Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males. ORPHA:1738|UMLS:C2931571|MESH:C537643 http://purl.obolibrary.org/obo/MONDO_0015767 trisomy type 4p|chromosome 4p duplication|Duplication of the short arm of chromosome 4|4p trisomy|trisomy of the short arm of chromosome 4|4p duplication|Duplication 4p|partial trisomy 4p ordo_malformation_syndrome MONDO:0013106 BCC6 biolink:Disease mondo OMIM:613063|UMLS:C2751600 UMLS:C2751600|http://identifiers.org/omim/613063 http://purl.obolibrary.org/obo/MONDO_0013106 basal cell carcinoma, susceptibility to, 6; BCC6|BCC6|basal cell carcinoma, susceptibility to, 6 predisposition HGNC:7173 MMP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7173 HGNC:12382 TSPYL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12382 HGNC:7176 MMP9 biolink:OntologyClass mondo http://identifiers.org/hgnc/7176 MONDO:0015762 progressive familial intrahepatic cholestasis biolink:Disease mondo NCIT:C84453|UMLS:C0268312|OMIMPS:211600|Orphanet:172|ICD10:K76.8|DOID:0070221 Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. NCIT:C84453|DOID:0070221|UMLS:C0268312|ORPHA:172 http://purl.obolibrary.org/obo/MONDO_0015762 cholestasis, progressive familial intrahepatic|PFIC ordo_disease MONDO:0013100 ATFB8 biolink:Disease mondo OMIM:613055|UMLS:C2751607|MESH:C567802 UMLS:C2751607|http://identifiers.org/omim/613055|MESH:C567802 http://purl.obolibrary.org/obo/MONDO_0013100 atrial fibrillation, familial, 8|atrial fibrillation, familial, 8; ATFB8|ATFB8 MONDO:0015761 trisomy 10p biolink:Disease mondo ICD10:Q92.2|UMLS:C4082793|Orphanet:171929|MESH:C538290|SCTID:717157006|GARD:0005299 Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. SNOMEDCT:717157006|UMLS:C4082793|ORPHA:171929|MESH:C538290|UMLS:C0795837 http://purl.obolibrary.org/obo/MONDO_0015761 Duplication 10p|10p duplication|trisomy type 10p|chromosome 10p duplication|partial trisomy 10p|10p trisomy ordo_malformation_syndrome MONDO:0015760 T-cell non-Hodgkin lymphoma biolink:Disease mondo UMLS:C0079772|ICD9:202.70|MedDRA:10042971|NCIT:C3466|SCTID:109978004|Orphanet:171918|MESH:D016399 A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003 SNOMEDCT:109978004|MESH:D016399|NCIT:C3466|MEDDRA:10042971|ORPHA:171918|UMLS:C0079772 http://purl.obolibrary.org/obo/MONDO_0015760 T-cell and NK-cell non-Hodgkin's lymphoma|non-Hodgkin's T-cell lymphoma|T-cell and NK-cell non-Hodgkin lymphoma|T-cell lymphoma|T-cell NHL|T-cell non-Hodgkin's lymphoma|T cell lymphoma|T-cell non-Hodgkin lymphoma ordo_group_of_disorders CL:0002274 histamine secreting cell biolink:Cell mondo A cell type that secretes histamine. http://purl.obolibrary.org/obo/CL_0002274 HGNC:7179 ALDH6A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7179 MONDO:0001103 giardiasis biolink:Disease mondo ICD10:A07.1|UMLS:C0017536|SCTID:10679007|MESH:D005873|COHD:437202|ICD9:007.1|DOID:10718 An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact. MESH:D005873|UMLS:C0017536|SNOMEDCT:10679007|DOID:10718 http://purl.obolibrary.org/obo/MONDO_0001103 Giardia infection|Giardiases|Lambliases|infection by Giardia lamblia|lambliasis|infections, Giardia|Giardia|beaver feaver MONDO:0003766 thalamic cancer biolink:Disease mondo SCTID:188287005|NCIT:C4576|UMLS:C0346902|DOID:6098 A cancer involving a dorsal plus ventral thalamus. SNOMEDCT:188287005|NCIT:C4576|DOID:6098|UMLS:C0346902 http://purl.obolibrary.org/obo/MONDO_0003766 malignant neoplasm of the thalamus|malignant thalamus tumor|thalamic neoplasm|malignant dorsal plus ventral thalamus neoplasm|cancer of dorsal plus ventral thalamus|malignant tumor of thalamus|malignant thalamus neoplasms|malignant thalamic tumor|malignant thalamic neoplasms|malignant neoplasm of thalamus|malignant thalamic neoplasm|malignant neoplasm of dorsal plus ventral thalamus|malignant tumor of the thalamus|malignant thalamic tumors|malignant thalamus neoplasm|tumor of thalamus|dorsal plus ventral thalamus cancer|malignant thalamus tumors MONDO:0001102 obsolete chronic endophthalmitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001102 MONDO:0003767 mitral valve disease biolink:Disease mondo ICD9:394.9|ICD10:I05|ICD9:424.0|ICD10:I05.9|UMLS:C0026265|ICD9:394.1|DOID:61|SCTID:11851006|ICD9:394|NCIT:C78446|UMLS:C2939153|ICD10:I05.1 A disease involving the mitral valve. UMLS:C2939153|DOID:61|NCIT:C78446|UMLS:C0026265|SNOMEDCT:11851006 http://purl.obolibrary.org/obo/MONDO_0003767 mitral RH valve dis.|mitral valve disorder|chronic rheumatic mitral valve|disease of mitral valve|mitral valve disease or disorder|rheumatic mitral valve changes|disorder of mitral valve|rheumatic mitral valve regurgitation|disorder of mitral valve|disease or disorder of mitral valve|rheumatic disease of mitral valve|rheumatic mitral insufficiency|rheumatic mitral valve incompetence|mitral valve disease MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma biolink:Disease mondo NCIT:C40205|DOID:6101|ONCOTREE:SCEMU|UMLS:C1516424 A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells. UMLS:C1516424|NCIT:C40205|DOID:6101 http://purl.obolibrary.org/obo/MONDO_0003768 cervical mucinous adenocarcinoma, signet Ring cell variant|cervical mucinous adenocarcinoma, signet Ring cell type|signet ring mucinous carcinoma MONDO:0001101 fat necrosis of breast biolink:Disease mondo NCIT:C3661|ICD9:611.3|SCTID:21381006|UMLS:C0156321|DOID:10691|COHD:436470|ICD10:N64.1 Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment. SNOMEDCT:21381006|UMLS:C0156321|DOID:10691|NCIT:C3661 http://purl.obolibrary.org/obo/MONDO_0001101 breast fat necrosis|fat Necrosis of the breast MONDO:0001100 hypertrophy of breast biolink:Disease mondo DOID:10688|SCTID:372281005|COHD:78474|NCIT:C3125|ICD10:N62|GARD:0009450|ICD9:611.1 Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain. SNOMEDCT:372281005|DOID:10688|NCIT:C3125 http://purl.obolibrary.org/obo/MONDO_0001100 large breast|macromastia|breast Hypertrophy|breasts enlarged|hypertrophy of the breast|gestational gigantomastia (subtype)|idiopathic gigantomastia (subtype)|drug-induced gigantomastia (subtype)|puberty-induced gigantomastia (subtype)|juvenile gigantomastia (subtype)|medication-induced gigantomastia (subtype)|gigantomastia|pregnancy-induced gigantomastia (subtype) MONDO:0003769 herpetic gastritis biolink:Disease mondo NCIT:C27341|DOID:6102|UMLS:C1333996 Gastritis resulting from herpes virus. UMLS:C1333996|NCIT:C27341|DOID:6102 http://purl.obolibrary.org/obo/MONDO_0003769 Herpesviridae caused viral gastritis|Herpesviridae viral gastritis MONDO:0003762 malignant leptomeningeal tumor biolink:Disease mondo UMLS:C1334596|DOID:6086|NCIT:C8506 A primary or metastatic malignant tumor involving the leptomeninges. NCIT:C8506|DOID:6086|UMLS:C1334596 http://purl.obolibrary.org/obo/MONDO_0003762 malignant tumor of leptomeninges|cancer of leptomeninx|leptomeningeal cancer|malignant neoplasm of the leptomeninges|malignant neoplasm of leptomeninges|malignant leptomeningeal neoplasm|malignant leptomeningeal tumor|malignant neoplasm of leptomeninx|malignant tumor of the leptomeninges|leptomeninx cancer|malignant leptomeninx neoplasm MONDO:0001107 obsolete cerebral lipidosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001107 MONDO:0001106 kidney failure biolink:Disease mondo NCIT:C4376|UMLS:C0035078|ICD9:586|ICD9:404.13|ICD9:404.12|MESH:D051437|DOID:1074|ICD10:N19|UMLS:C1565489|SCTID:42399005 An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. SNOMEDCT:42399005|UMLS:C0035078|UMLS:C1565489|DOID:1074|MESH:D051437|NCIT:C4376 http://purl.obolibrary.org/obo/MONDO_0001106 failure, renal|renal failure|renal failure syndrome|renal insufficiency MONDO:0003763 acute stress disorder biolink:Disease mondo ICD10:F43.0|NCIT:C92621|EFO:0005223|ICD9:308.9|DOID:6088|ICD9:308.3|COHD:440083|Wikipedia:Acute_stress_reaction|SCTID:67195008|MESH:D000068099 An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month. NCIT:C92621|SNOMEDCT:67195008|DOID:6088|MESH:D000068099 http://purl.obolibrary.org/obo/MONDO_0003763 acute stress reaction|traumatic stress disorder HGNC:7180 MN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7180 MONDO:0001105 renal hypertension biolink:Disease mondo EFO:1002039|MESH:D006977|SCTID:28119000|DOID:1073|UMLS:C0020544 Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries. DOID:1073|MESH:D006977|NCIT:C3121|UMLS:C0020544|SNOMEDCT:28119000 http://purl.obolibrary.org/obo/MONDO_0001105 renovascular hypertension HGNC:24338 C1GALT1C1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24338 MONDO:0003764 pediatric leptomeningeal melanoma biolink:Disease mondo DOID:6089|NCIT:C5318|UMLS:C1332976 A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. UMLS:C1332976|NCIT:C5318|DOID:6089 http://purl.obolibrary.org/obo/MONDO_0003764 childhood leptomeningeal melanoma|childhood meningeal melanoma|pediatric meningeal melanoma MONDO:0001104 toxic diffuse goiter biolink:Disease mondo COHD:138717|ICD9:242.00|SCTID:267374005|DOID:10719 DOID:10719|SNOMEDCT:267374005 http://purl.obolibrary.org/obo/MONDO_0001104 MONDO:0003765 adult leptomeningeal melanoma biolink:Disease mondo DOID:6090|NCIT:C5319|UMLS:C1332204 A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood. NCIT:C5319|DOID:6090|UMLS:C1332204 http://purl.obolibrary.org/obo/MONDO_0003765 adult leptomeningeal melanoma|melanoma of adult leptomeninges|melanoma of the adult leptomeninges|adult meningeal melanoma NCBITaxon:1399768 Basidiobolomycetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1399768 GO:0050727 regulation of inflammatory response biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. http://purl.obolibrary.org/obo/GO_0050727 GO:0050728 negative regulation of inflammatory response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. http://purl.obolibrary.org/obo/GO_0050728 anti-inflammatory response|down-regulation of inflammatory response|down regulation of inflammatory response|downregulation of inflammatory response|inhibition of inflammatory response MONDO:0003760 pediatric ovarian germ cell tumor biolink:Disease mondo NCIT:C8588|UMLS:C0796664|DOID:6084 A germ cell tumor that arises from the ovary and occurs in children. NCIT:C8588|DOID:6084|UMLS:C0796664 http://purl.obolibrary.org/obo/MONDO_0003760 childhood ovarian germ cell tumor|pediatric ovarian germ cell tumor|ovarian germ cell tumor of childhood|childhood ovarian germ cell neoplasm|ovarian germ cell tumor|pediatric ovarian germ cell neoplasm MONDO:0015749 6q16 deletion syndrome biolink:Disease mondo ICD10:Q93.5|UMLS:CN200301|Orphanet:171829 Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. ORPHA:171829|UMLS:CN200301 http://purl.obolibrary.org/obo/MONDO_0015749 monosomy 6q16|Prader-Willi-like syndrome due to deletion 6q16|Del(6)(q16) ordo_clinical_subtype MONDO:0003761 leptomeningeal melanoma biolink:Disease mondo UMLS:C1334386|NCIT:C5317|DOID:6085|SCTID:277530005 A melanoma that arises from leptomeningeal melanocytes. SNOMEDCT:277530005|NCIT:C5317|UMLS:C1334386|DOID:6085 http://purl.obolibrary.org/obo/MONDO_0003761 melanoma (disease) of leptomeninx|leptomeninx melanoma (disease)|melanoma of the leptomeninges|malignant melanoma of meninges|leptomeningeal melanoma|leptomeninx melanoma|meningeal melanoma|melanoma of leptomeninges GO:0050729 positive regulation of inflammatory response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the inflammatory response. http://purl.obolibrary.org/obo/GO_0050729 up regulation of inflammatory response|activation of inflammatory response|stimulation of inflammatory response|upregulation of inflammatory response|up-regulation of inflammatory response MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays biolink:Disease mondo ICD10:G71.2|Orphanet:171889|SCTID:764994007 Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. SNOMEDCT:764994007|ORPHA:171889 http://purl.obolibrary.org/obo/MONDO_0015755 ordo_disease CL:0002242 nucleate cell biolink:Cell mondo FMA:67513 A cell containing at least one nucleus. http://purl.obolibrary.org/obo/CL_0002242 MONDO:0015754 obsolete cylindrical spirals myopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015754 MONDO:0015753 cap myopathy biolink:Disease mondo UMLS:C3710589|GARD:0011915|SCTID:703532002|MESH:C579969|ICD10:G71.2|Orphanet:171881 Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. MESH:C579969|UMLS:C3710589|SNOMEDCT:703532002|ORPHA:171881 http://purl.obolibrary.org/obo/MONDO_0015753 Cap disease|congenital myopathy with caps ordo_disease|gard_rare MONDO:0037105 lung germ cell tumor biolink:Disease mondo NCIT:C45636|UMLS:C1708771 A germ cell tumor that arises from the lung. UMLS:C1708771|NCIT:C45636 http://purl.obolibrary.org/obo/MONDO_0037105 lung germ cell neoplasm|lung germ cell tumor MONDO:0015752 intellectual disability-cataracts-kyphosis syndrome biolink:Disease mondo Orphanet:171860|UMLS:CN226733 This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. ORPHA:171860|UMLS:CN226733 http://purl.obolibrary.org/obo/MONDO_0015752 ordo_disease MONDO:0015759 B-cell non-Hodgkin lymphoma biolink:Disease mondo Orphanet:171915|NCIT:C3457 The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003 NCIT:C3457|ORPHA:171915 http://purl.obolibrary.org/obo/MONDO_0015759 B-cell non-Hodgkin's lymphoma|B-cell non-Hodgkin lymphoma|B-cell NHL|non-Hodgkin's lymphoma B-cell|lymphomas non-Hodgkin's B-cell|non-Hodgkin's B-cell lymphoma|B-cell non Hodgkin's lymphoma|B-cell lymphoma ordo_group_of_disorders MONDO:0015758 primary cutaneous T-cell lymphoma biolink:Disease mondo GARD:0006226|Orphanet:171901|MedDRA:10011677|ICD10:C84.8 MEDDRA:10011677|UMLS:C0079773|MESH:D016410|ORPHA:171901 http://purl.obolibrary.org/obo/MONDO_0015758 ordo_group_of_disorders MONDO:0015757 lymphoid hemopathy biolink:Disease mondo Orphanet:171898 ORPHA:171898 http://purl.obolibrary.org/obo/MONDO_0015757 ordo_group_of_disorders MONDO:0015756 myeloid hemopathy biolink:Disease mondo Orphanet:171895 ORPHA:171895 http://purl.obolibrary.org/obo/MONDO_0015756 ordo_group_of_disorders ENVO:03000009 material accumulation process biolink:OntologyClass mondo A process during which the mass of one or more materials, present within a given site, increases. http://purl.obolibrary.org/obo/ENVO_03000009 MONDO:0003759 childhood ovarian yolk sac tumor biolink:Disease mondo DOID:6083|UMLS:C1332993|NCIT:C6551 A yolk sac tumor that arises from the ovary and occurs in children. DOID:6083|UMLS:C1332993|NCIT:C6551 http://purl.obolibrary.org/obo/MONDO_0003759 pediatric ovarian yolk Sac neoplasm|childhood ovarian endodermal sinus tumor|childhood ovarian yolk sac tumor|childhood ovarian endodermal sinus neoplasm|pediatric ovarian endodermal sinus neoplasm|pediatric ovarian yolk Sac tumor|pediatric ovarian endodermal sinus tumor|childhood ovarian yolk Sac neoplasm|ovary childhood endodermal sinus tumor MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome biolink:Disease mondo UMLS:C3267187|ICD10:Q87.8|SCTID:720815000|Orphanet:171839 Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. SNOMEDCT:720815000|ORPHA:171839|UMLS:C3267187 http://purl.obolibrary.org/obo/MONDO_0015751 Berant syndrome|familial scaphocephaly-radioulnar synostosis syndrome|Capra-DeMarco syndrome ordo_malformation_syndrome MONDO:0015750 amelogenesis imperfecta-gingival hyperplasia syndrome biolink:Disease mondo Orphanet:171836|ICD10:K00.5|UMLS:CN200302 This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption. http://identifiers.org/omim/614253|ORPHA:171836|UMLS:CN200302 http://purl.obolibrary.org/obo/MONDO_0015750 ordo_disease CL:0002240 marrow fibroblast biolink:Cell mondo FMA:84377 A fibroblast in the bone marrow. http://purl.obolibrary.org/obo/CL_0002240 MONDO:0001114 bacterial myocarditis biolink:Disease mondo DOID:10779|SCTID:64043005|ICD9:422.92|UMLS:C1384588|NCIT:C128380|ICD10:I40.0|UMLS:C0155690 Myocarditis that is caused by an infection with a bacterial agent. NCIT:C128380|UMLS:C1384588|UMLS:C0155690|DOID:10779|SNOMEDCT:64043005 http://purl.obolibrary.org/obo/MONDO_0001114 septic myocarditis MONDO:0003777 renal pelvis urothelial papilloma biolink:Disease mondo NCIT:C4528|UMLS:C1514844|DOID:6119 A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. NCIT:C4528|DOID:6119|UMLS:C1514844 http://purl.obolibrary.org/obo/MONDO_0003777 renal pelvis urothelial papilloma MONDO:0003778 primary immunodeficiency disease biolink:Disease mondo SCTID:58606001|DOID:612|MESH:D007153|UMLS:C0398686|ICD10:D84.9|KEGG:05340|ICD9:279.3|UMLS:C0021051|Orphanet:101997 A disorder in which the immune system is unable to mount an adequate immune response. DOID:612|MESH:D007153|UMLS:C0021051|NCIT:C39725 http://purl.obolibrary.org/obo/MONDO_0003778 deficiency syndromes, antibody|syndromes, immunological deficiency|deficiency syndromes, immunologic|syndrome, immunological deficiency|deficiency syndrome, antibody|deficiency syndrome, immunological|hypoimmunity|syndrome, antibody deficiency|immunological deficiency syndromes|syndromes, antibody deficiency|syndromes, immunologic deficiency|syndrome, immunologic deficiency|immune deficiency disorder|deficiency syndromes, immunological|antibody deficiency syndrome|primary immunodeficiency|immunologic deficiency syndrome|immunodeficiency syndrome|antibody deficiency syndromes|deficiency syndrome, immunologic|immunological deficiency syndrome ordo_group_of_disorders MONDO:0001113 Fiedler's myocarditis biolink:Disease mondo DOID:10778|COHD:317307|UMLS:C0155689|ICD9:422.91|SCTID:266238009|ICD10:I40.1 UMLS:C0155689|SNOMEDCT:266238009|DOID:10778 http://purl.obolibrary.org/obo/MONDO_0001113 isolated (Fiedler's) myocarditis|fiedler myocarditis|idiopathic myocarditis MONDO:0003779 obsolete gliomatosis cerebri biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003779 MONDO:0001112 bubonic plague biolink:Disease mondo ICD9:020.0|DOID:10773|ICD10:A20.0|UMLS:C0282312|GARD:0000183|SCTID:50797007 A plague in which the bacteria have infected the lymphatic system. DOID:10773|UMLS:C0282312|SNOMEDCT:50797007 http://purl.obolibrary.org/obo/MONDO_0001112 black death gard_rare HGNC:7190 MOCS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7190 MONDO:0001111 obsolete thrombotic thrombocytopenic purpura biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001111 MONDO:0001118 Queensland tick typhus biolink:Disease mondo UMLS:C2979888|SCTID:68981009|DOID:10784|ICD9:082.3 A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy. SNOMEDCT:68981009|DOID:10784|UMLS:C2979888 http://purl.obolibrary.org/obo/MONDO_0001118 Rickettsia australis spotted fever|North Queensland tick typhus|Australian tick typhus MONDO:0003773 intracerebral cystic meningioma biolink:Disease mondo DOID:6113|NCIT:C5269|UMLS:C1334236 A cystic meningioma that grows within the cerebral hemispheres. NCIT:C5269|UMLS:C1334236|DOID:6113 http://purl.obolibrary.org/obo/MONDO_0003773 MONDO:0003774 cerebral convexity meningioma biolink:Disease mondo NCIT:C4959|DOID:6114|UMLS:C0751303 A meningioma that affects the cerebral sulcus. UMLS:C0751303|NCIT:C4959|DOID:6114 http://purl.obolibrary.org/obo/MONDO_0003774 cerebral hemispheric convexity meningioma MONDO:0001117 methemoglobinemia biolink:Disease mondo ICD10:D74.9|NCIT:C34817|UMLS:C0025637|COHD:432882|DOID:10783|ICD9:289.7|MESH:D008708|SCTID:38959009|ICD10:D74 An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. NCIT:C34817|UMLS:C0025637|MESH:D008708|SNOMEDCT:38959009|DOID:10783 http://purl.obolibrary.org/obo/MONDO_0001117 methemoglobinemias MONDO:0003775 lateral ventricle meningioma biolink:Disease mondo DOID:6115|NCIT:C5302|UMLS:C1334380 A meningioma that affects the lateral ventricle of the brain. NCIT:C5302|UMLS:C1334380|DOID:6115 http://purl.obolibrary.org/obo/MONDO_0003775 meningioma (disease) of telencephalic ventricle|meningioma of the lateral ventricle|telencephalic ventricle meningioma (disease)|meningioma of lateral ventricle MONDO:0001116 mesenteric lymphadenitis biolink:Disease mondo ICD9:289.2|NCIT:C26830|ICD10:I88.0|SCTID:44897000|MESH:D008640|DOID:10782|UMLS:C0025469 Inflammation of the mesenteric lymph nodes. UMLS:C0025469|MESH:D008640|SNOMEDCT:44897000|NCIT:C26830|DOID:10782 http://purl.obolibrary.org/obo/MONDO_0001116 mesenteric adenitis|mesentery lymphadenitis (disease)|mesenteric lymphadenitis|lymphadenitis (disease) of mesentery NCBITaxon:11216 Human respirovirus 3 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11216 human parainfluenza virus type 3 PIV3|Human parainfluenza virus type 3|parainfluenza virus type 3 PIV-3|Human parainfluenza virus 3|Human parainfluenza 3 virus|Parainfluenza virus type 3|human parainfluenza virus 3 HPIV3|HPIV3|HPIV-3 MONDO:0003776 renal pelvis inverted papilloma biolink:Disease mondo NCIT:C6187|DOID:6118|UMLS:C1335751 A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue. NCIT:C6187|UMLS:C1335751|DOID:6118 http://purl.obolibrary.org/obo/MONDO_0003776 kidney pelvis inverted papilloma|inverted papilloma of renal pelvis|inverted papilloma of the renal pelvis|inverted papilloma of the kidney pelvis|inverted papilloma of kidney pelvis|renal pelvis inverted papilloma MONDO:0001115 familial polycythemia biolink:Disease mondo OMIMPS:133100|ICD10:D75.0|ICD9:289.6|DOID:10780|NCIT:C26955 Polycythemia that occurs in groups of related individuals. NCIT:C26955|DOID:10780 http://purl.obolibrary.org/obo/MONDO_0001115 primary polycythemia|erythrocytosis, familial|familial polycythemia|familial erythrocytosis|familiar polycythemia|hereditary polycythemia (disease) HGNC:7193 MOCS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7193 MONDO:0003770 thoracic spinal canal and spinal cord meningioma biolink:Disease mondo DOID:6103|UMLS:C1336738|NCIT:C5297 A meningioma that arises from the meninges of the thoracic region of the spinal cord. NCIT:C5297|UMLS:C1336738|DOID:6103 http://purl.obolibrary.org/obo/MONDO_0003770 meningioma of thoracic spinal canal and spinal cord|meningioma of the thoracic spinal canal and spinal cord|thoracic intraspinal meningioma MONDO:0003771 jugular foramen meningioma biolink:Disease mondo DOID:6110|UMLS:C1334298|NCIT:C5293 A meningioma that affects the jugular foramen. NCIT:C5293|UMLS:C1334298|DOID:6110 http://purl.obolibrary.org/obo/MONDO_0003771 meningioma of the jugular Foramen|jugular foramen meningioma (disease)|meningioma of jugular Foramen|meningioma (disease) of jugular foramen MONDO:0015739 adult-onset nemaline myopathy biolink:Disease mondo GARD:0012824|Orphanet:171442|ICD10:G71.2|UMLS:C0546123 Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. ORPHA:171442|UMLS:C0546123 http://purl.obolibrary.org/obo/MONDO_0015739 ordo_disease|gard_rare MONDO:0003772 cerebral meningioma biolink:Disease mondo NCIT:C4807|DOID:6112|SCTID:189164002|UMLS:C0542564 A meningioma that affects the cerebral hemispheres. NCIT:C4807|DOID:6112|SNOMEDCT:189164002|UMLS:C0542564 http://purl.obolibrary.org/obo/MONDO_0003772 cerebral hemispheric meningioma|meningioma of cerebral hemispheres|meningioma of the cerebral hemispheres|meningioma of the cerebrum|telencephalon meningioma (disease)|meningioma (disease) of telencephalon|meningioma of cerebrum MONDO:0015738 childhood-onset nemaline myopathy biolink:Disease mondo GARD:0007171|Orphanet:171439|ICD10:G71.2 Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. ORPHA:171439 http://purl.obolibrary.org/obo/MONDO_0015738 mild nemaline myopathy gard_rare|ordo_disease MONDO:0001110 chronic pyelonephritis biolink:Disease mondo UMLS:C0085697|ICD10:N11|DOID:1076|NCIT:C123216|ICD10:N11.9|COHD:4269363|SCTID:63302006|ICD9:590.0 Persistent pyelonephritis. DOID:1076|NCIT:C123216|SNOMEDCT:63302006|UMLS:C0085697 http://purl.obolibrary.org/obo/MONDO_0001110 pyelonephritis, chronic ENVO:03000010 material transport process biolink:OntologyClass mondo A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://purl.obolibrary.org/obo/ENVO_03000010 MONDO:0015744 distal trisomy 19q biolink:Disease mondo SCTID:766052008|Orphanet:1717|ICD10:Q92.3 Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. ORPHA:1717|SNOMEDCT:766052008 http://purl.obolibrary.org/obo/MONDO_0015744 distal duplication 19q|telomeric duplication 19q|distal trisomy type 19q|trisomy 19qter ordo_malformation_syndrome MONDO:0015743 idiopathic bilateral vestibulopathy biolink:Disease mondo SCTID:737580004|UMLS:C4545229|ICD10:H81.8|Orphanet:171684 Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo. SNOMEDCT:737580004|ORPHA:171684|UMLS:C4545229 http://purl.obolibrary.org/obo/MONDO_0015743 ordo_disease MONDO:0015742 periventricular leukomalacia biolink:Disease mondo UMLS:C0023529|EFO:1001101|ICD9:742.8|SCTID:230769007|GARD:0010285|MESH:D007969|DOID:13088|Orphanet:171676|MedDRA:10052594|NCIT:C99013|COHD:372435|ICD10:P91.2|ICD9:779.7 Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments.There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles. MEDDRA:10052594|NCIT:C99013|DOID:13088|SNOMEDCT:230769007|UMLS:C0023529|MESH:D007969|ORPHA:171676 http://purl.obolibrary.org/obo/MONDO_0015742 PVL ordo_disease|gard_rare MONDO:0040753 inactive tuberculosis biolink:Disease mondo SCTID:11999007|UMLS:C1609538|MESH:D055985 MESH:D055985|UMLS:C1609538|SNOMEDCT:11999007 http://purl.obolibrary.org/obo/MONDO_0040753 inactive tuberculosis|tuberculosis infection latent HGNC:12367 TSFM biolink:OntologyClass mondo http://identifiers.org/hgnc/12367 MONDO:0015741 distal trisomy 18q biolink:Disease mondo ICD10:Q92.3|Orphanet:1716 ORPHA:1716 http://purl.obolibrary.org/obo/MONDO_0015741 distal duplication 18q|telomeric duplication 18q|distal trisomy type 18q|trisomy 18qter ordo_malformation_syndrome MONDO:0015748 hereditary mucosal leukokeratosis biolink:Disease mondo ICD9:528.6|Orphanet:171723|DOID:0050448|OMIMPS:193900|NCIT:C84760|UMLS:C1721005|GARD:0008501|SCTID:389203001|MESH:D053529|ICD10:Q38.6 White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. DOID:0050448|UMLS:C1721005|MESH:D053529|NCIT:C84760|SNOMEDCT:389203001|ORPHA:171723 http://purl.obolibrary.org/obo/MONDO_0015748 white sponge nevus of Cannon|hereditary mucosal leukokeratosis|white sponge nevus|White sponge nevus of Cannon ordo_disease CL:0002258 thyroid follicular cell biolink:Cell mondo FMA:68782|CALOHA:TS-1285|BTO:0003736 A cell type that varies from squamous to columnar, depending on their activity with microvillus directed luminally. This cell produces and secretes thyroid hormones. http://purl.obolibrary.org/obo/CL_0002258 principal cell of thyroid gland|follicular cell of thyroid gland|thyroid gland follicular cell ENVO:03000015 geographic basin biolink:OntologyClass mondo A depression which is part of a planetary crust, is of geographic scale, and is partially or completely enclosed. http://purl.obolibrary.org/obo/ENVO_03000015 MONDO:0015747 obsolete Amish infantile epilepsy syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015747 CL:0002257 epithelial cell of thyroid gland biolink:Cell mondo FMA:256167 An epithelial cell of thyroid gland. http://purl.obolibrary.org/obo/CL_0002257 MONDO:0015746 male infertility due to globozoospermia biolink:Disease mondo Orphanet:171709|ICD10:N46|DOID:0111156|GARD:0012502 Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent. DOID:0111156|ORPHA:171709 http://purl.obolibrary.org/obo/MONDO_0015746 male infertility due to globozoospermia|male infertility due to round-headed spermatozoa|round-headed sperm syndrome|globozoospermia|Male infertility due to round-headed spermatozoa ordo_clinical_subtype MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome biolink:Disease mondo ICD10:Q04.3|Orphanet:171703|UMLS:CN200295 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. UMLS:CN200295|ORPHA:171703 http://purl.obolibrary.org/obo/MONDO_0015745 ordo_malformation_syndrome MONDO:0001109 petrositis biolink:Disease mondo ICD9:383.2|ICD10:H70.2|DOID:10755|UMLS:C0155448|ICD9:383.22|MESH:D059270|ICD10:H70.22|ICD10:H70.209|ICD10:H70.21|ICD10:H70.219|ICD10:H70.20|ICD10:H70.229|ICD9:383.21|SCTID:28593007|ICD9:383.20|COHD:81029 Inflammation of petrous bone. UMLS:C0155448|MESH:D059270|SNOMEDCT:28593007|DOID:10755 http://purl.obolibrary.org/obo/MONDO_0001109 chronic petrositis|petrous part of temporal bone inflammation|inflammation of petrous bone|inflammation of petrous part of temporal bone|acute petrositis MONDO:0001108 broad ligament malignant neoplasm biolink:Disease mondo DOID:10744|SCTID:449259009|COHD:40486213|ICD9:183.3|UMLS:C0346866|ICD10:C57.1 A malignant neoplasm involving the broad ligament of uterus. UMLS:C0346866|SNOMEDCT:449259009|DOID:10744 http://purl.obolibrary.org/obo/MONDO_0001108 malignant neoplasm of broad ligament of uterus|broad ligament of uterus cancer|malignant broad ligament of uterus neoplasm|cancer of broad ligament of uterus HGNC:7197 MOG biolink:OntologyClass mondo http://identifiers.org/hgnc/7197 MONDO:0015740 trisomy 18p biolink:Disease mondo GARD:0005323|ICD10:Q92.2|Orphanet:1715|MESH:C538307 Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy. ORPHA:1715|UMLS:C2931811|MESH:C538307 http://purl.obolibrary.org/obo/MONDO_0015740 trisomy of the short arm of chromosome 18|Duplication 18p|trisomy type 18p|chromosome 18p duplication|partial trisomy 18p|Duplication of the short arm of chromosome 18|18p trisomy|18p duplication ordo_malformation_syndrome HGNC:12363 TSC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/12363 HGNC:12362 TSC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12362 MONDO:0025136 tuberculosis, bovine biolink:Disease mondo MESH:D014380|UMLS:C0041307|EFO:1001441 An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals. MESH:D014380|UMLS:C0041307 http://purl.obolibrary.org/obo/MONDO_0025136 Tuberculoses, bovine|bovine Tuberculoses|bovine tuberculosis MONDO:0001169 spastic monoplegia biolink:Disease mondo ICD9:343.3|DOID:10968|UMLS:C0154698 A spastic cerebral palsy that affects only one limb. UMLS:C0154698|DOID:10968 http://purl.obolibrary.org/obo/MONDO_0001169 monoplegic infantile cerebral palsy|spastic monoplegic cerebral palsy|infantile monoplegic cerebral palsy MONDO:0001168 spastic hemiplegia biolink:Disease mondo ICD9:342.10|COHD:375528|ICD9:343.1|DOID:10967|UMLS:C0270805|NCIT:C116905|SCTID:79633009 A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. SNOMEDCT:79633009|DOID:10967|UMLS:C0270805|NCIT:C116905 http://purl.obolibrary.org/obo/MONDO_0001168 hemiplegic infantile cerebral palsy|hemiplegic cerebral palsy|spastic hemiplegic cerebral palsy|congenital hemiplegia NCBITaxon:11266 Filoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11266 Filovirus MONDO:0025135 tuberculosis, avian biolink:Disease mondo MESH:D014379|UMLS:C0041306|EFO:1001440 A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells. MESH:D014379|UMLS:C0041306 http://purl.obolibrary.org/obo/MONDO_0025135 Tuberculoses, Avian|Avian Tuberculoses|Avian tuberculosis MONDO:0001167 spastic diplegia biolink:Disease mondo ICD9:343.0|NCIT:C34781|UMLS:C0270804|MESH:C537945|SCTID:281411007|DOID:10965|ICD10:G80.1|GARD:0009637 A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. DOID:10965|SNOMEDCT:281411007|UMLS:C0270804|MESH:C537945|NCIT:C34781 http://purl.obolibrary.org/obo/MONDO_0001167 Little's disease|cerebral palsy spastic diplegic|diplegic infantile cerebral palsy|infantile spastic cerebral palsy|Little disease|infantile diplegic cerebral palsy|cerebral spastic infantile paralysis gard_rare MONDO:0025138 vesicular exanthema of swine biolink:Disease mondo UMLS:C0042584|MESH:D014720 A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia. MESH:D014720|UMLS:C0042584 http://purl.obolibrary.org/obo/MONDO_0025138 swine vesicular Exanthemas|swine vesicular exanthema MONDO:0001166 nephritis biolink:Disease mondo NCIT:C26833|MESH:D009393|ICD9:583.89|ICD10:N08|COHD:193253|ICD10:N05|SCTID:52845002|DOID:10952|ICD9:583.9|UMLS:C0027697|ICD9:583.7 Inflammation of renal tissue. NCIT:C26833|DOID:10952|UMLS:C0027697|MESH:D009393|SNOMEDCT:52845002 http://purl.obolibrary.org/obo/MONDO_0001166 inflammation of kidney|kidney inflammation MONDO:0025139 white muscle disease biolink:Disease mondo MESH:D014912|UMLS:C0043153 A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed) UMLS:C0043153|MESH:D014912 http://purl.obolibrary.org/obo/MONDO_0025139 muscle disease, White|disease, White muscle|diseases, White muscle|muscle diseases, White|White muscle diseases GO:0050746 regulation of lipoprotein metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0050746 regulation of lipoprotein metabolism HGNC:24316 TACO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24316 MONDO:0001161 schizoid personality disorder biolink:Disease mondo ICD9:301.2|ICD10:F60.1|NCIT:C92631|DOID:10936|SCTID:52954000|ICD9:301.20|MESH:D012557|COHD:440085 A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness. DOID:10936|SNOMEDCT:52954000|MESH:D012557|NCIT:C92631 http://purl.obolibrary.org/obo/MONDO_0001161 MONDO:0001160 dissociative disorder biolink:Disease mondo ICD9:300.15|DOID:10935|COHD:434889|ICD9:300.9|NCIT:C92197|ICD10:F48.9|ICD10:F44.9|MESH:D004213 A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment. DOID:10935|NCIT:C92197|MESH:D004213 http://purl.obolibrary.org/obo/MONDO_0001160 dissociative reaction|dissociative disease MONDO:0025130 swine vesicular disease biolink:Disease mondo MESH:D013555|UMLS:C0039010 An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B. UMLS:C0039010|MESH:D013555 http://purl.obolibrary.org/obo/MONDO_0025130 vesicular diseases, swine|vesicular disease, swine|swine vesicular diseases GO:0050747 positive regulation of lipoprotein metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0050747 up-regulation of lipoprotein metabolic process|up regulation of lipoprotein metabolic process|activation of lipoprotein metabolic process|stimulation of lipoprotein metabolic process|positive regulation of lipoprotein metabolism|upregulation of lipoprotein metabolic process GO:0050748 negative regulation of lipoprotein metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0050748 down regulation of lipoprotein metabolic process|inhibition of lipoprotein metabolic process|downregulation of lipoprotein metabolic process|negative regulation of lipoprotein metabolism|down-regulation of lipoprotein metabolic process MONDO:0001165 tongue disease biolink:Disease mondo ICD9:529.8|SCTID:69244009|ICD10:K14.9|DOID:10944|MESH:D014060|ICD9:529.9|ICD10:K14|UMLS:C0040409 A disease involving the tongue. DOID:10944|MESH:D014060|SNOMEDCT:69244009|UMLS:C0040409 http://purl.obolibrary.org/obo/MONDO_0001165 disease of tongue|disease or disorder of tongue|disorder of tongue|tongue disease|tongue disease or disorder|disorder of tongue MONDO:0001164 antisocial personality disorder biolink:Disease mondo DOID:10939|SCTID:26665006|COHD:440988|MESH:D000987|NCIT:C88413|ICD9:301.7|ICD10:F60.2 A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV) DOID:10939|NCIT:C88413|MESH:D000987|SNOMEDCT:26665006 http://purl.obolibrary.org/obo/MONDO_0001164 psychopathic personality|psychopathy|psychopath.personality|psychopathic personality disorder|dissocial personality disorder|asocial personality|Sociopathy|sociopathic personality MONDO:0001163 paranoid personality disorder biolink:Disease mondo ICD9:301.0|NCIT:C92630|ICD10:F60.0|DOID:10938|SCTID:13601005|COHD:440691|MESH:D010260 A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted. DOID:10938|SNOMEDCT:13601005|NCIT:C92630|MESH:D010260 http://purl.obolibrary.org/obo/MONDO_0001163 MONDO:0001162 impulse control disorder biolink:Disease mondo ICD10:F63.9|ICD9:312.39|DOID:10937|NCIT:C34723|ICD9:312.30|COHD:433752|SCTID:66347000 A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others. SNOMEDCT:66347000|DOID:10937|NCIT:C34723 http://purl.obolibrary.org/obo/MONDO_0001162 ICD|impulse-control disorder HGNC:26970 COX20 biolink:OntologyClass mondo http://identifiers.org/hgnc/26970 MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 biolink:Disease mondo UMLS:C3150414|NCIT:C126743|OMIM:613154 An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. http://identifiers.org/omim/613154|UMLS:C3150414|NCIT:C126743 http://purl.obolibrary.org/obo/MONDO_0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6|Walker-Warburg syndrome or muscle-eye-brain disease, large-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; MDDGA6|MDDGA6 MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 biolink:Disease mondo UMLS:C3150415|OMIM:613155 http://identifiers.org/omim/613155|UMLS:C3150415 http://purl.obolibrary.org/obo/MONDO_0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1; MDDGB1|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; MDDGB1|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1|MDDGB1|muscular dystrophy, congenital, Pomt1-related HGNC:12335 TRPC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/12335 MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B4 biolink:Disease mondo OMIM:613152|UMLS:C2751052 http://identifiers.org/omim/613152|UMLS:C2751052 http://purl.obolibrary.org/obo/MONDO_0013156 muscular dystrophy, congenital, Fktn-related|muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4; MDDGB4|muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4|muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4|MDDGB4|muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4; MDDGB4 MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 biolink:Disease mondo UMLS:C3150413|OMIM:613153 http://identifiers.org/omim/613153|UMLS:C3150413 http://purl.obolibrary.org/obo/MONDO_0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5|Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; MDDGA5|MDDGA5 HGNC:12338 TRPC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/12338 MONDO:0013150 infantile dystonia-parkinsonism biolink:Disease mondo NCIT:C129866|SCTID:722763000|UMLS:C2751067|MESH:C567730|GARD:0010484|OMIMPS:613135|Orphanet:238455 Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. http://identifiers.org/omim/613135|MESH:C567730|ORPHA:238455|NCIT:C129866|UMLS:C2751067|SNOMEDCT:722763000 http://purl.obolibrary.org/obo/MONDO_0013150 PARKINSONISM-dystonia, infantile|Parkinsonism-dystonia infantile|infantile Parkinsonism-dystonia|PKDYS|PARKINSONISM-dystonia, infantile; PKDYS|dopamine transporter deficiency syndrome|IPD gard_rare|ordo_disease MONDO:0013151 CACD3 biolink:Disease mondo UMLS:C2751055|OMIM:613144|MESH:C567729 http://identifiers.org/omim/613144|MESH:C567729|UMLS:C2751055 http://purl.obolibrary.org/obo/MONDO_0013151 choroidal dystrophy, central areolar, 3; CACD3|choroidal dystrophy, central areolar, 3|CACD3|choroidal dystrophy, central areolar, with or without drusen MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 biolink:Disease mondo OMIM:613150|NCIT:C126742|UMLS:C3150411 An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation. http://identifiers.org/omim/613150|UMLS:C3150411|NCIT:C126742 http://purl.obolibrary.org/obo/MONDO_0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; MDDGA2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2|MDDGA2|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 biolink:Disease mondo OMIM:613151|UMLS:C3150412 http://identifiers.org/omim/613151|UMLS:C3150412 http://purl.obolibrary.org/obo/MONDO_0013155 muscular dystrophy, congenital, POMGNT1-related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3; MDDGB3|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3; MDDGB3|MDDGB3 NCBITaxon:35237 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_35237 MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 biolink:Disease mondo OMIM:613145 http://identifiers.org/omim/613145 http://purl.obolibrary.org/obo/MONDO_0013152 systemic lupus erythematosus, susceptibility to, 14; SLEB14|SLEB14|systemic lupus erythematosus, susceptibility to, 14 predisposition MONDO:0013153 inflammatory bowel disease 28 biolink:Disease mondo UMLS:C2751053|OMIM:613148|DOID:0110899|MESH:C567728 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene. http://identifiers.org/omim/613148|MESH:C567728|UMLS:C2751053|DOID:0110899 http://purl.obolibrary.org/obo/MONDO_0013153 IBD28|IL10RA inflammatory bowel disease|early onset autosomal recessive inflammatory bowel disease 28|inflammatory bowel disease caused by mutation in IL10RA|inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease type 28|inflammatory bowel disease 28, autosomal recessive; IBD28|inflammatory bowel disease 28, autosomal recessive HGNC:26988 METTL23 biolink:OntologyClass mondo http://identifiers.org/hgnc/26988 MONDO:0001179 pinguecula biolink:Disease mondo COHD:376124|DOID:11029|SCTID:87614000|ICD9:372.51|ICD10:H11.15|MESH:D059407|UMLS:C0152255|EFO:1001824 A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus. UMLS:C0152255|SNOMEDCT:87614000|DOID:11029|MESH:D059407 http://purl.obolibrary.org/obo/MONDO_0001179 MONDO:0001178 pseudopterygium biolink:Disease mondo SCTID:66139007|UMLS:C0155161|DOID:11028|ICD9:372.52 UMLS:C0155161|SNOMEDCT:66139007|DOID:11028 http://purl.obolibrary.org/obo/MONDO_0001178 HGNC:24323 CARTPT biolink:OntologyClass mondo http://identifiers.org/hgnc/24323 MONDO:0001177 anorectal stricture biolink:Disease mondo ICD10:K62.4|SCTID:197216007|COHD:200773|ICD9:569.2|DOID:11014 DOID:11014|SNOMEDCT:197216007 http://purl.obolibrary.org/obo/MONDO_0001177 stenosis of rectum and anus MONDO:0025129 swine erysipelas biolink:Disease mondo MESH:D013554|UMLS:C0039007 An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa. UMLS:C0039007|MESH:D013554 http://purl.obolibrary.org/obo/MONDO_0025129 erysipelas, swine MONDO:0001172 salpingo-oophoritis biolink:Disease mondo ICD10:N70.93|ICD10:N70.9|UMLS:C0036133|SCTID:46536000|DOID:10972|ICD9:614.2|ICD10:N70|COHD:197602 UMLS:C0036133|DOID:10972|SNOMEDCT:46536000 http://purl.obolibrary.org/obo/MONDO_0001172 tubo-ovarian abscess (disorder)|Tubo-ovarian inflammatory disease|salpingitis/oophoritis|tubo-ovarian abscess|tubo ovarian abscess MONDO:0001171 acute salpingo-oophoritis biolink:Disease mondo COHD:196468|ICD10:N70.03|SCTID:266581008|ICD10:N70.0|DOID:10971|UMLS:C0156327|ICD9:614.0 Acute form of salpingo-oophoritis. SNOMEDCT:266581008|UMLS:C0156327|DOID:10971 http://purl.obolibrary.org/obo/MONDO_0001171 acute salpingitis and oophoritis|salpingo-oophoritis, acute MONDO:0001170 hemiplegia biolink:Disease mondo DOID:10969|MESH:D006429|COHD:374022|ICD9:343.4|SCTID:1593000|GARD:0006583 Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. MESH:D006429|SNOMEDCT:1593000|DOID:10969 http://purl.obolibrary.org/obo/MONDO_0001170 infantile hemiplegia|postnatal infantile hemiplegia gard_rare MONDO:0001176 lens disease biolink:Disease mondo DOID:110|ICD9:379.39|MESH:D007905|NCIT:C26812|ICD10:H25-H28|ICD10:H27.9|SCTID:10810001|UMLS:C0023308 A disease involving the lens of camera-type eye. SNOMEDCT:10810001|DOID:110|UMLS:C0023308|MESH:D007905|NCIT:C26812 http://purl.obolibrary.org/obo/MONDO_0001176 disease of lens of camera-type eye|lens of camera-type eye disease or disorder|disorder of lens of camera-type eye|lens of camera-type eye disease|disorder of lens of camera-type eye|disease or disorder of lens of camera-type eye|lens disorder MONDO:0001175 immature cataract biolink:Disease mondo COHD:40482507|UMLS:C2960113|DOID:10997|ICD10:H25.09|SCTID:446474007|UMLS:C2939157|UMLS:C0271163 A cataract disease in which the cataract contains some transparent protein SNOMEDCT:446474007|DOID:10997|UMLS:C0271163|UMLS:C2939157|UMLS:C2960113 http://purl.obolibrary.org/obo/MONDO_0001175 incipient cataract|incipient senile cataract|water clefts MONDO:0001174 conjunctival vascular disease biolink:Disease mondo DOID:10989|ICD10:H11.41|NCIT:C35116|SCTID:74100001|ICD9:372.74 A disorder of the vasculature of the cornea. DOID:10989|NCIT:C35116|SNOMEDCT:74100001 http://purl.obolibrary.org/obo/MONDO_0001174 conjunctival vasculature disease or disorder|disorder of conjunctival vasculature|disease of conjunctival vasculature|disease or disorder of conjunctival vasculature|disorder of conjunctival vasculature|conjunctival vascular disorder|conjunctival vasculature disease|conjunctival vascular abnormality|vascular abnormalities of conjunctiva MONDO:0001173 acute salpingitis biolink:Disease mondo ICD10:N70.01|UMLS:C0269038|DOID:10973|SCTID:8912009|NCIT:C40120 Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. SNOMEDCT:8912009|UMLS:C0269038|DOID:10973|NCIT:C40120 http://purl.obolibrary.org/obo/MONDO_0001173 salpingitis, acute MONDO:0013147 dilated cardiomyopathy 1CC biolink:Disease mondo ICD10:I42.0|UMLS:C2751084|MESH:C567733|OMIM:613122|DOID:0110424 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. http://identifiers.org/omim/613122|MESH:C567733|UMLS:C2751084|DOID:0110424 http://purl.obolibrary.org/obo/MONDO_0013147 cardiomyopathy, dilated, type 1Cc|dilated cardiomyopathy type 1CC|cardiomyopathy, dilated, 1CC; CMD1CC|CMD1CC|cardiomyopathy, dilated, 1CC|NEXN familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in NEXN MONDO:0013148 Brugada syndrome 8 biolink:Disease mondo ICD10:I49.8|UMLS:C2751083|MESH:C567732|OMIM:613123|DOID:0110225 Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene. http://identifiers.org/omim/613123|MESH:C567732|DOID:0110225|UMLS:C2751083 http://purl.obolibrary.org/obo/MONDO_0013148 Brugada syndrome 8|Brugada syndrome caused by mutation in HCN4|BRGDA8|Brugada syndrome 8; BRGDA8|HCN4 Brugada syndrome|Brugada syndrome type 8 MONDO:0013145 Brugada syndrome 6 biolink:Disease mondo DOID:0110223|UMLS:C2751089|MESH:C567735|OMIM:613119|ICD10:I49.8 Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene. http://identifiers.org/omim/613119|MESH:C567735|UMLS:C2751089|DOID:0110223 http://purl.obolibrary.org/obo/MONDO_0013145 Brugada syndrome 6; BRGDA6|BRGDA6|Brugada syndrome type 6|Brugada syndrome caused by mutation in KCNE3|Brugada syndrome 6|KCNE3 Brugada syndrome CL:1000486 basal cell of urothelium biolink:Cell mondo FMA:84150 A basal cell that is part of the urothelium. http://purl.obolibrary.org/obo/CL_1000486 MONDO:0013146 Brugada syndrome 7 biolink:Disease mondo ICD10:I49.8|OMIM:613120|MESH:C567734|UMLS:C2751088|DOID:0110224 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene. http://identifiers.org/omim/613120|MESH:C567734|UMLS:C2751088|DOID:0110224 http://purl.obolibrary.org/obo/MONDO_0013146 Brugada syndrome caused by mutation in SCN3B|Brugada syndrome 7|atrial fibrillation, familial, 16|SCN3B Brugada syndrome|Brugada syndrome 7; BRGDA7|Brugada syndrome type 7|BRGDA7 MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features biolink:Disease mondo UMLS:C2751073|MESH:C567731|OMIM:613124 http://identifiers.org/omim/613124|MESH:C567731|UMLS:C2751073 http://purl.obolibrary.org/obo/MONDO_0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features MONDO:0013140 candidiasis, familial, 4 biolink:Disease mondo UMLS:C0341024|SCTID:235073000|OMIM:613108 Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene. http://identifiers.org/omim/613108|SNOMEDCT:235073000|UMLS:C0341024 http://purl.obolibrary.org/obo/MONDO_0013140 candidiasis, familial, type 4|candidiasis, familial chronic mucocutaneous|candidiasis, familial, 4; CANDF4|CANDF4|familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A|candidiasis, familial, 4|CLEC7A familial chronic mucocutaneous candidiasis NCBITaxon:11270 Rhabdoviridae organism taxon mondo PMID:16186241|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11270 MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency biolink:Disease mondo MESH:C567737|OMIM:613116|Orphanet:217467|ICD10:D68.5 ORPHA:217467|http://identifiers.org/omim/613116|MESH:C567737 http://purl.obolibrary.org/obo/MONDO_0013143 thrombophilia due to elevated histidine-rich glycoprotein|THPH11|thrombophilia due to histidine-rich glycoprotein deficiency|hereditary thrombophilia due to congenital HRG deficiency|thrombophilia due to histidine-rich glycoprotein deficiency; THPH11 ordo_disease MONDO:0013144 antithrombin III deficiency biolink:Disease mondo MESH:D020152|ICD10:D68.59|GARD:0006148|NCIT:C98815|ICD10:D68.5|SCTID:36351005|DOID:3755|Orphanet:82|UMLS:C0272375|OMIM:613118|ICD9:286.9 A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. MESH:D020152|ORPHA:82|UMLS:C0272375|http://identifiers.org/omim/613118|SNOMEDCT:36351005|DOID:3755|NCIT:C98815 http://purl.obolibrary.org/obo/MONDO_0013144 thrombophilia due to antithrombin 3 deficiency|antithrombin III deficiency|hereditary thrombophilia due to congenital antithrombin deficiency|AT III deficiency|congenital antithrombin III deficiency|inherited antithrombin deficiency|antithrombin III deficiency; AT3D|hereditary antithrombin deficiency|hereditary thrombophilia due to congenital antithrombin 3 deficiency|antithrombin 3 deficiency|AT3D|thrombophilia due to antithrombin III deficiency|congenital AT-III deficiency ordo_disease MONDO:0013141 autosomal dominant macrothrombocytopenia TUBB1-related biolink:Disease mondo ICD10:D69.4|MESH:C567747|OMIM:613112|DOID:0090102|UMLS:C2751259 Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene. http://identifiers.org/omim/613112|MESH:C567747|DOID:0090102|UMLS:C2751259 http://purl.obolibrary.org/obo/MONDO_0013141 TUBB1 autosomal dominant macrothrombocytopenia|autosomal dominant macrothrombocytopenia caused by mutation in TUBB1|macrothrombocytopenia, autosomal dominant, TUBB1-related MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B biolink:Disease mondo UMLS:C2751092|OMIM:613115|DOID:0070150 Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene. DOID:0070150|http://identifiers.org/omim/613115|UMLS:C2751092 http://purl.obolibrary.org/obo/MONDO_0013142 neuropathy, hereditary sensory and autonomic, type IIB; HSAN2B|hereditary sensory and autonomic neuropathy type 2B|RETREG1 hereditary sensory and autonomic neuropathy type 2|neuropathy, hereditary sensory and autonomic, type IIB|hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1|hereditary sensory and autonomic neuropathy type IIB|HSAN2B GO:0035176 social behavior biolink:OntologyClass mondo Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group. http://purl.obolibrary.org/obo/GO_0035176 cooperative behavior|social behaviour HGNC:12340 TRPS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12340 MONDO:0001147 meningocele (disease) biolink:Disease mondo NCIT:C101209|HP:0002435|Orphanet:93968|GARD:0003471|SCTID:171131006|UMLS:C0025299|MESH:D008588|NCIT:C105595|DOID:1088 A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium. NCIT:C101209|SNOMEDCT:171131006|DOID:1088|ORPHA:93968|NCIT:C105595|UMLS:C0025299|MESH:D008588 http://purl.obolibrary.org/obo/MONDO_0001147 central nervous system meningocele|spinal meningocele|meningocele gard_rare MONDO:0025114 protozoan infections, animal biolink:Disease mondo UMLS:C0033741|MESH:D011529 Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary. UMLS:C0033741|MESH:D011529 http://purl.obolibrary.org/obo/MONDO_0025114 protozoan infection, animal|infection, animal protozoan|animal protozoan infections|infections, animal protozoan|animal protozoan infection MONDO:0001146 fourth cranial nerve palsy biolink:Disease mondo ICD9:378.53|COHD:378439|DOID:10869|SCTID:20610004 A cranial nerve palsy that involves the trochlear nerve. DOID:10869|SNOMEDCT:20610004 http://purl.obolibrary.org/obo/MONDO_0001146 trochlear nerve cranial nerve palsy|fourth or trochlear nerve palsy|fourth nerve palsy|cranial nerve palsy of trochlear nerve NCBITaxon:11244 Pneumoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11244 Pneumovirinae MONDO:0025113 poultry disease biolink:Disease mondo UMLS:C0032851|MESH:D011201 Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild. UMLS:C0032851|MESH:D011201 http://purl.obolibrary.org/obo/MONDO_0025113 disease, poultry|poultry disease|diseases, poultry GO:0050764 regulation of phagocytosis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material. http://purl.obolibrary.org/obo/GO_0050764 MONDO:0001145 total third-nerve palsy biolink:Disease mondo SCTID:194119004|UMLS:C0271371|ICD9:378.52|DOID:10866 SNOMEDCT:194119004|DOID:10866|UMLS:C0271371 http://purl.obolibrary.org/obo/MONDO_0001145 third or oculomotor nerve palsy, total|total third nerve palsy|third nerve palsy with pupil involved MONDO:0001144 partial third-nerve palsy biolink:Disease mondo UMLS:C0271370|ICD9:378.51|SCTID:194118007|DOID:10864 DOID:10864|SNOMEDCT:194118007|UMLS:C0271370 http://purl.obolibrary.org/obo/MONDO_0001144 third or oculomotor nerve palsy, partial|third nerve palsy with pupil sparing|partial third nerve palsy GO:0050767 regulation of neurogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system. http://purl.obolibrary.org/obo/GO_0050767 GO:0050768 negative regulation of neurogenesis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. http://purl.obolibrary.org/obo/GO_0050768 downregulation of neurogenesis|down regulation of neurogenesis|inhibition of neurogenesis|down-regulation of neurogenesis MONDO:0001149 microcephaly (disease) biolink:Disease mondo HP:0000252|ICD10:Q02|DOID:10907|ICD9:742.1|NCIT:C85874|COHD:381114|GARD:0003603|SCTID:1829003 A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. NCIT:C85874|SNOMEDCT:1829003|DOID:10907 http://purl.obolibrary.org/obo/MONDO_0001149 microencephaly|microcephaly|microcephalus gard_rare GO:0050765 negative regulation of phagocytosis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis. http://purl.obolibrary.org/obo/GO_0050765 downregulation of phagocytosis|down regulation of phagocytosis|inhibition of phagocytosis|down-regulation of phagocytosis MONDO:0001148 iliac vein thrombophlebitis biolink:Disease mondo SCTID:42861008|DOID:10880|ICD9:451.81|UMLS:C0347887|ICD10:I80.21 A thrombophlebitis that involves the iliac vein. DOID:10880|UMLS:C0347887|SNOMEDCT:42861008 http://purl.obolibrary.org/obo/MONDO_0001148 phlebitis and thrombophlebitis of the iliac vein|iliac vein thrombophlebitis|thrombophlebitis of iliac vein GO:0050766 positive regulation of phagocytosis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of phagocytosis. http://purl.obolibrary.org/obo/GO_0050766 stimulation of phagocytosis|up regulation of phagocytosis|activation of phagocytosis|up-regulation of phagocytosis|upregulation of phagocytosis GO:0050769 positive regulation of neurogenesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. http://purl.obolibrary.org/obo/GO_0050769 up regulation of neurogenesis|stimulation of neurogenesis|up-regulation of neurogenesis|activation of neurogenesis|upregulation of neurogenesis CL:0002209 intermediate epitheliocyte biolink:Cell mondo FMA:69060 An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells. http://purl.obolibrary.org/obo/CL_0002209 undifferentiated columnar cell of tracheobronchial tree HGNC:12309 ZNHIT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/12309 MONDO:0001143 paralytic strabismus biolink:Disease mondo ICD10:H49.9|HP:0031775|UMLS:C0152221|ICD9:378.50|COHD:381862|ICD9:378.5|SCTID:400942002|ICD10:H49|DOID:10863 SNOMEDCT:400942002|UMLS:C0152221|DOID:10863 http://purl.obolibrary.org/obo/MONDO_0001143 paralytic squint|incomitant dissociation MONDO:0001142 salivary gland disease biolink:Disease mondo ICD9:527.9|NCIT:C26879|ICD9:527.8|COHD:25572|SCTID:10890000|MESH:D012466|EFO:0008581|DOID:10854|UMLS:C0036093 A disease involving the saliva-secreting gland. NCIT:C26879|DOID:10854|UMLS:C0036093|SNOMEDCT:10890000|MESH:D012466 http://purl.obolibrary.org/obo/MONDO_0001142 salivary gland disorder|saliva-secreting gland disease or disorder|disorder of saliva-secreting gland|disease of saliva-secreting gland|disease or disorder of saliva-secreting gland|disorder of saliva-secreting gland|non-neoplastic salivary gland disease|salivary gland disease|saliva-secreting gland disease MONDO:0001141 middle ear cholesterol granuloma biolink:Disease mondo ICD9:385.82|SCTID:28371001|UMLS:C0155492|DOID:10852 As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response. DOID:10852|NCIT:C3655|UMLS:C0155492|SNOMEDCT:28371001 http://purl.obolibrary.org/obo/MONDO_0001141 cholesterin granuloma|cholesterin granuloma of middle ear MONDO:0027772 lung colloid adenocarcinoma biolink:Disease mondo NCIT:C45512|DOID:0080304|DOID:0080303|UMLS:C1708776 A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells. DOID:0080304|DOID:0080303|UMLS:C1708776|NCIT:C45512 http://purl.obolibrary.org/obo/MONDO_0027772 lung mucinous cystic tumor of borderline malignancy|lung colloid adenocarcinoma|lung mucinous cystadenocarcinoma|mucinous lung adenocarcinoma MONDO:0001140 obsolete Edwards syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001140 MONDO:0040700 orbital dermoid cyst biolink:Disease mondo NCIT:C4548|UMLS:C0346356|SCTID:255002002 A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative. SNOMEDCT:255002002|NCIT:C4548|UMLS:C0346356 http://purl.obolibrary.org/obo/MONDO_0040700 dermoid cyst of orbit|epidermal dermoid cyst|orbit dermoid cyst|dermoid cyst of the orbit MONDO:0015799 Smith-McCort dysplasia biolink:Disease mondo MESH:C564589|Orphanet:178355|GARD:0010620|DOID:0060247|ICD10:Q77.7|OMIMPS:607326|SCTID:715862006 Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. ORPHA:178355|SNOMEDCT:715862006|MESH:C564589|DOID:0060247 http://purl.obolibrary.org/obo/MONDO_0015799 Smith McCort dysplasia|Smith-McCort dwarfism ordo_disease|gard_rare MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles biolink:Disease mondo UMLS:C2751292|SCTID:724350009|OMIM:613102|MESH:C567751|Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. ORPHA:217407|http://identifiers.org/omim/613102|MESH:C567751|SNOMEDCT:724350009|UMLS:C2751292 http://purl.obolibrary.org/obo/MONDO_0013136 hypotrichosis and recurrent skin vesicles ordo_disease HGNC:14977 SNX14 biolink:OntologyClass mondo http://identifiers.org/hgnc/14977 MONDO:0013137 choroidal dystrophy, central areolar 2 biolink:Disease mondo MESH:C567750|OMIM:613105|UMLS:C2751290 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. http://identifiers.org/omim/613105|MESH:C567750|UMLS:C2751290 http://purl.obolibrary.org/obo/MONDO_0013137 CACD2|choroidal dystrophy, central areolar 2; CACD2|macular dystrophy, progressive|PRPH2 central areolar choroidal dystrophy|choroidal dystrophy, central areolar type 2|central areolar choroidal dystrophy caused by mutation in PRPH2|choroidal dystrophy, central areolar 2 FOODON:03420310 stamen biolink:OntologyClass mondo A pollen-bearing organ in a flower, made up of a slender stalk (filament) and a pollen sac (anther) (Webster's) http://purl.obolibrary.org/obo/FOODON_03420310 MONDO:0015798 inflammatory myofibroblastic tumor biolink:Disease mondo ONCOTREE:IMT|DOID:0050905|GARD:0007146|MESH:D006104|UMLS:C0334121|MedDRA:10067917|ICDO:8825/1|Orphanet:178342|NCIT:C6481 A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells. UMLS:C0334121|MEDDRA:10067917|ORPHA:178342|DOID:0050905|MESH:D006104|NCIT:C6481 http://purl.obolibrary.org/obo/MONDO_0015798 IMT|inflammatory pseudotumor|inflammatory myofibroblastic tumor|inflammatory fibrosarcoma|inflammatory myofibroblastic neoplasm|IMT gard_rare|ordo_disease MONDO:0013134 glaucoma 1, open angle, O biolink:Disease mondo UMLS:C2751294|MESH:C567753|OMIM:613100 Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene. http://identifiers.org/omim/613100|MESH:C567753|UMLS:C2751294 http://purl.obolibrary.org/obo/MONDO_0013134 NTF4 open-angle glaucoma|glaucoma 1, open angle, O; GLC1O|open-angle glaucoma caused by mutation in NTF4|GLC1O|glaucoma 1, open angle, type O|glaucoma 1, open angle, O MONDO:0015797 UV-sensitive syndrome biolink:Disease mondo DOID:0060240|GARD:0010947|ICD9:702.8|Orphanet:178338|MESH:C563466|OMIMPS:600630|SCTID:698253007 UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population. ORPHA:178338|SNOMEDCT:698253007|DOID:0060240|MESH:C563466 http://purl.obolibrary.org/obo/MONDO_0015797 UV sensitive syndrome|UVSS gard_rare|ordo_disease MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 biolink:Disease mondo UMLS:C2751293|OMIM:613101|DOID:0110925|MESH:C567752 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene. DOID:0110925|http://identifiers.org/omim/613101|MESH:C567752|UMLS:C2751293 http://purl.obolibrary.org/obo/MONDO_0013135 genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2|STXBP2 genetic hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis, familial, 5; FHL5|familial hemophagocytic lymphohistiocytosis type 5|HLH5|HPLH5|FHL5|hemophagocytic lymphohistiocytosis, familial, 5|hemophagocytic lymphohistiocytosis, familial, type 5 MONDO:0015796 acute lung injury biolink:Disease mondo SCTID:315345002|MESH:D055371|EFO:0004610|MedDRA:10069351|Orphanet:178320 A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological). SNOMEDCT:315345002|ORPHA:178320|UMLS:C0242488|MESH:D055371|MEDDRA:10069351 http://purl.obolibrary.org/obo/MONDO_0015796 ordo_clinical_situation CL:0002202 epithelial cell of tracheobronchial tree biolink:Cell mondo FMA:66816 An epithelial cell of the tracheobronchial tree. http://purl.obolibrary.org/obo/CL_0002202 HGNC:14974 SNX10 biolink:OntologyClass mondo http://identifiers.org/hgnc/14974 MONDO:0013138 BRV2 biolink:Disease mondo UMLS:C2751289|MESH:C567749|OMIM:613106 http://identifiers.org/omim/613106|MESH:C567749|UMLS:C2751289 http://purl.obolibrary.org/obo/MONDO_0013138 BRV2|vertigo, benign recurrent, 2; BRV2|vertigo, benign recurrent, 2 MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant biolink:Disease mondo UMLS:C2751288|MESH:C567748|OMIM:613107 Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene. UMLS:C2751288|http://identifiers.org/omim/613107|MESH:C567748 http://purl.obolibrary.org/obo/MONDO_0013139 neutropenia, severe congenital, 2, autosomal dominant|GFI1 autosomal dominant severe congenital neutropenia|neutropenia, severe congenital, 2, autosomal dominant; SCN2|SCN2|autosomal dominant severe congenital neutropenia caused by mutation in GFI1 MONDO:0015791 peripheral precocious puberty biolink:Disease mondo Orphanet:178040|SCTID:736606009|ICD10:E30.1 Precocious puberty caused by sex hormones. SNOMEDCT:736606009|ORPHA:178040 http://purl.obolibrary.org/obo/MONDO_0015791 GIPP|gonadotropin independent precocious puberty|gonadotropin-independent precocious puberty|precocious pseudopuberty ordo_group_of_disorders MONDO:0015790 central diabetes insipidus biolink:Disease mondo MedDRA:10068587|Orphanet:178029|GARD:0006015|ICD10:E23.2|HP:0000863 Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI). MESH:D020790|ORPHA:178029|UMLS:C0687720|MEDDRA:10068587 http://purl.obolibrary.org/obo/MONDO_0015790 diabetes insipidus neurohypophyseal|diabetes insipidus cranial type|neurogenic diabetes insipidus|diabetes insipidus neurogenic|CDI ordo_disease MONDO:0015795 undifferentiated embryonal sarcoma of the liver biolink:Disease mondo SCTID:716648006|ONCOTREE:UESL|Orphanet:178315 Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache. ORPHA:178315|SNOMEDCT:716648006 http://purl.obolibrary.org/obo/MONDO_0015795 embryonal sarcoma of the liver|undifferentiated sarcoma of the liver|UES ordo_disease MONDO:0013132 hereditary spastic paraplegia 36 biolink:Disease mondo Orphanet:320365|ICD10:G11.4|UMLS:C4510078|UMLS:C2936879|MESH:C567930|SCTID:723819007|OMIM:613096|DOID:0110787 Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. UMLS:C4510078|http://identifiers.org/omim/613096|SNOMEDCT:723819007|UMLS:C2936879|ORPHA:320365|MESH:C567930|DOID:0110787 http://purl.obolibrary.org/obo/MONDO_0013132 hereditary spastic paraplegia type 36|spastic paraplegia 36, autosomal dominant; SPG36|SPG36|autosomal dominant spastic paraplegia 36|spastic paraplegia 36, autosomal dominant|autosomal dominant spastic paraplegia type 36 ordo_disease HGNC:12310 TRIP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/12310 MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita biolink:Disease mondo ICD10:G71.2|UMLS:C1843691|Orphanet:178148|GARD:0009129 ORPHA:178148|UMLS:C1843691 http://purl.obolibrary.org/obo/MONDO_0015794 multiminicore myopathy, antenatal onset, with arthrogryposis|multicore myopathy, antenatal onset, with arthrogryposis ordo_clinical_subtype MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 biolink:Disease mondo OMIM:613099 http://identifiers.org/omim/613099 http://purl.obolibrary.org/obo/MONDO_0013133 melanoma, cutaneous malignant, susceptibility to, 5; CMM5|melanoma, cutaneous malignant, susceptibility to, type 5|CMM5|melanoma, cutaneous malignant, susceptibility to, 5|susceptibility to cutaneous malignant melanoma 5 predisposition MONDO:0013130 isolated microphthalmia 4 biolink:Disease mondo DOID:0060836|ICD10:Q11.0|MESH:C567757|OMIM:613094|UMLS:C2751307 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene. DOID:0060836|http://identifiers.org/omim/613094|MESH:C567757|UMLS:C2751307 http://purl.obolibrary.org/obo/MONDO_0013130 microphthalmia, isolated 4|isolated microphthalmia caused by mutation in GDF6|MCOP4|microphthalmia, isolated type 4|microphthalmia, isolated 4; MCOP4|isolated microphthalmia type 4|GDF6 isolated microphthalmia MONDO:0015793 moderate multiminicore disease with hand involvement biolink:Disease mondo UMLS:C1861753|Orphanet:178145|ICD10:G71.2 ORPHA:178145|UMLS:C1861753 http://purl.obolibrary.org/obo/MONDO_0015793 ordo_clinical_subtype MONDO:0013131 polycystic kidney disease 2 biolink:Disease mondo UMLS:C2751306|NCIT:C123166|DOID:0110859|OMIM:613095|SCTID:253879006 Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. SNOMEDCT:253879006|NCIT:C123166|http://identifiers.org/omim/613095|UMLS:C2751306|DOID:0110859 http://purl.obolibrary.org/obo/MONDO_0013131 PKD2|Autosomal dominant polycystic kidney disease type 2|autosomal dominant polycystic kidney disease caused by mutation in PKD2|PKD2 autosomal dominant polycystic kidney disease|polycystic kidney disease, adult, type II|polycystic kidney disease type 2|polycystic kidney disease 2 with or without polycystic liver disease|polycystic kidney disease 2|polycystic kidney disease, adult, type 2|polycystic kidney disease 2 with or without polycystic liver disease; PKD2|polycystic kidney disease 2; PKD2|APKD2 MONDO:0015792 transient congenital hypothyroidism biolink:Disease mondo Orphanet:178045|NCIT:C113171|SCTID:119181000119104|UMLS:C3827793 A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone. ORPHA:178045|SNOMEDCT:119181000119104|UMLS:C3827793|NCIT:C113171 http://purl.obolibrary.org/obo/MONDO_0015792 hypothyroxinemia of prematurity|THOP|transient hypothyroxinemia of prematurity ordo_group_of_disorders MONDO:0001158 obsessive-compulsive personality disorder biolink:Disease mondo NCIT:C92638|ICD10:F60.5|SCTID:1376001|COHD:443876|ICD9:301.4|DOID:10932|MESH:D003193 A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics. MESH:D003193|DOID:10932|SNOMEDCT:1376001|NCIT:C92638 http://purl.obolibrary.org/obo/MONDO_0001158 OCPD|obsessional personality|OCD|anankastic personality disorder MONDO:0027766 generalized lipodystrophy biolink:Disease mondo HP:0009064|NCIT:C131815|DOID:0080298|UMLS:C4317112 Almost complete absence of subcutaneous and/or visceral adipose tissue. NCIT:C131815|UMLS:C4317112|DOID:0080298 http://purl.obolibrary.org/obo/MONDO_0027766 complete generalized lipodystrophy MONDO:0025102 monkey disease biolink:Disease mondo MESH:D008992 Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases). MESH:D008992 http://purl.obolibrary.org/obo/MONDO_0025102 diseases, monkey|monkey disease|disease, monkey MONDO:0027767 partial lipodystrophy biolink:Disease mondo UMLS:C4316789|NCIT:C131296|DOID:0080299 Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. DOID:0080299|UMLS:C4316789|NCIT:C131296 http://purl.obolibrary.org/obo/MONDO_0027767 MONDO:0001157 dependent personality disorder biolink:Disease mondo COHD:437523|SCTID:84466009|NCIT:C92637|ICD10:F60.7|ICD9:301.6|DOID:10931|MESH:D003859 A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life. DOID:10931|MESH:D003859|NCIT:C92637|SNOMEDCT:84466009 http://purl.obolibrary.org/obo/MONDO_0001157 MONDO:0001156 borderline personality disorder (disease) biolink:Disease mondo SCTID:20010003|MESH:D001883|HP:0012076|ICD9:301.83|ICD10:F60.3|COHD:434626|NCIT:C92633|DOID:10930 A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior. DOID:10930|SNOMEDCT:20010003|MESH:D001883|NCIT:C92633 http://purl.obolibrary.org/obo/MONDO_0001156 BPD|borderline personality disorder GO:0050772 positive regulation of axonogenesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of axonogenesis. http://purl.obolibrary.org/obo/GO_0050772 upregulation of axonogenesis|up regulation of axonogenesis|stimulation of axonogenesis|up-regulation of axonogenesis|activation of axonogenesis MONDO:0001155 gastrojejunal ulcer biolink:Disease mondo UMLS:C0156042|ICD10:K28.0|DOID:10927|UMLS:C0156048|ICD9:534.0|UMLS:C0156047|SCTID:4269005|UMLS:C0156045|UMLS:C0156044|UMLS:C0156050 DOID:10927|SNOMEDCT:4269005|UMLS:C0156044|UMLS:C0156045|UMLS:C0156042|UMLS:C0156048|UMLS:C0156047|UMLS:C0156050 http://purl.obolibrary.org/obo/MONDO_0001155 acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage and obstruction|acute gastrojejunal ulcer with perforation and obstruction|acute gastrojejunal ulcer without hemorrhage and without perforation|chronic gastrojejunal ulcer without hemorrhage and without perforation|chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer with perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage|chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer with hemorrhage and perforation|acute gastrojejunal ulcer with perforation|acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer, with hemorrhage, with obstruction|acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction GO:0050778 positive regulation of immune response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_0050778 stimulation of immune response|upregulation of immune response|up-regulation of immune response|up regulation of immune response GO:0050776 regulation of immune response biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_0050776 MONDO:0001159 multiple personality disorder biolink:Disease mondo ICD9:300.14|COHD:435230|MESH:D009105|SCTID:31611000|ICD10:F44.81|DOID:10934|NCIT:C94330 A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition. SNOMEDCT:31611000|DOID:10934|NCIT:C94330|MESH:D009105 http://purl.obolibrary.org/obo/MONDO_0001159 dissociative identity disorder GO:0050777 negative regulation of immune response biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_0050777 down-regulation of immune response|down regulation of immune response|inhibition of immune response|downregulation of immune response MONDO:0001150 hydrocephalus biolink:Disease mondo MESH:D006849|ICD10:G91|ICD10:G91.9|NCIT:C3111|SCTID:230745008|COHD:4043738|DOID:10908 A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. NCIT:C3111|DOID:10908|SNOMEDCT:230745008|MESH:D006849 http://purl.obolibrary.org/obo/MONDO_0001150 hydrocephalus, X-linked|hydrocephalus, nonsyndromic, autosomal recessive MONDO:0001154 Siberian tick typhus biolink:Disease mondo UMLS:C0549160|SCTID:186781003|ICD9:082.2|ICD10:A77.2|DOID:10921 A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash. DOID:10921|SNOMEDCT:186781003|UMLS:C0549160 http://purl.obolibrary.org/obo/MONDO_0001154 North Asian tick typhus|North Asian tick fever (disorder) [ambiguous]|Rickettsia sibirica spotted fever|Manchurian typhus|North Asian tick fever MONDO:0001153 gender dysphoria biolink:Disease mondo SCTID:93461009|DOID:10919|ICD9:302.50|MESH:D000068116 A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5) DOID:10919|MESH:D000068116|SNOMEDCT:93461009 http://purl.obolibrary.org/obo/MONDO_0001153 transsexualism MONDO:0001152 amnestic disorder biolink:Disease mondo DOID:10914|ICD9:294.0|EFO:1001454|COHD:372608|ICD10:R41.3|SCTID:3298001 Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories. DOID:10914|SNOMEDCT:3298001|NCIT:C2867 http://purl.obolibrary.org/obo/MONDO_0001152 amnesic syndrome|amnesia|Korsakoff's psychosis or syndrome|amnestic syndrome MONDO:0025100 mastitis, bovine biolink:Disease mondo UMLS:C0024895|EFO:1001765|MESH:D008414 Inflammation of the udder in cows. UMLS:C0024895|MESH:D008414 http://purl.obolibrary.org/obo/MONDO_0025100 Mastitides, bovine|bovine mastitis|bovine Mastitides MONDO:0001151 benign essential hypertension biolink:Disease mondo DOID:10913|COHD:312648|ICD9:401.1|SCTID:1201005|UMLS:C0155583 A condition of mild to moderate high blood pressure that has no identifiable cause. DOID:10913|SNOMEDCT:1201005|NCIT:C3656|UMLS:C0155583 http://purl.obolibrary.org/obo/MONDO_0001151 benign essential hypertension MONDO:0013125 CLAPO syndrome biolink:Disease mondo ICD10:Q87.3|SCTID:717765001|OMIM:613089|UMLS:C2751313|MESH:C567763|Orphanet:168984 CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). UMLS:C2751313|SNOMEDCT:717765001|ORPHA:168984|http://identifiers.org/omim/613089|MESH:C567763 http://purl.obolibrary.org/obo/MONDO_0013125 capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth|Clapo|Lopez-Gutierrez syndrome ordo_malformation_syndrome MONDO:0015788 symptomatic form of hemophilia B in female carriers biolink:Disease mondo Orphanet:177929|UMLS:CN200370|ICD10:D67 A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX. UMLS:CN200370|ORPHA:177929 http://purl.obolibrary.org/obo/MONDO_0015788 ordo_clinical_subtype HGNC:14988 POFUT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/14988 MONDO:0015787 symptomatic form of hemophilia A in female carriers biolink:Disease mondo ICD10:D66|Orphanet:177926|UMLS:CN200369 A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII. UMLS:CN200369|ORPHA:177926 http://purl.obolibrary.org/obo/MONDO_0015787 ordo_clinical_subtype MONDO:0013126 obsolete Bartter syndrome, type 4B biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013126 MONDO:0013123 atrial heart septal defect 6 biolink:Disease mondo ICD10:Q21.1|DOID:0110111|OMIM:613087|UMLS:C2751315|MESH:C567764 Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene. http://identifiers.org/omim/613087|MESH:C567764|DOID:0110111|UMLS:C2751315 http://purl.obolibrary.org/obo/MONDO_0013123 atrial heart septal defect caused by mutation in TLL1|TLL1 atrial heart septal defect|atrial septal defect 6|atrial heart septal defect type 6|atrial septal defect 6; ASD6|atrial septal defect type 6|ASD6 MONDO:0015786 Prader-Willi syndrome due to imprinting mutation biolink:Disease mondo Orphanet:177910|UMLS:CN200368|ICD10:Q87.1 UMLS:CN200368|ORPHA:177910 http://purl.obolibrary.org/obo/MONDO_0015786 ordo_etiological_subtype MONDO:0013124 pelvic organ prolapse, susceptibility to, 2 biolink:Disease mondo OMIM:613088 http://identifiers.org/omim/613088 http://purl.obolibrary.org/obo/MONDO_0013124 pelvic organ prolapse, susceptibility to, type 2|pelvic organ prolapse, susceptibility to, 2|Pvop2 predisposition MONDO:0015785 Prader-Willi syndrome due to translocation biolink:Disease mondo ICD10:Q87.1|UMLS:CN200367|Orphanet:177907 UMLS:CN200367|ORPHA:177907 http://purl.obolibrary.org/obo/MONDO_0015785 ordo_etiological_subtype MONDO:0013129 cone dystrophy 4 biolink:Disease mondo OMIM:613093 Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene. http://identifiers.org/omim/613093 http://purl.obolibrary.org/obo/MONDO_0013129 PDE6C cone dystrophy|cone dystrophy 4; COD4|cone dystrophy type 4|COD4|cone dystrophy 4|cone dystrophy caused by mutation in PDE6C|achromatopsia 5 MONDO:0013127 asphyxiating thoracic dystrophy 3 biolink:Disease mondo OMIM:613091|ICD10:Q77.2|DOID:0110087 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. http://identifiers.org/omim/613091|DOID:0110087 http://purl.obolibrary.org/obo/MONDO_0013127 polydactyly with neonatal chondrodystrophy, type 3|short rib-polydactyly syndrome, type 2B|polydactyly with neonatal chondrodystrophy, type 1|short rib-polydactyly syndrome, type I|short-rib thoracic dysplasia 3 with or without polydactyly|ATD3|asphyxiating thoracic dystrophy type 3|SRPS2B|SRPS3|polydactyly with neonatal chondrodystrophy, type I|Saldino-Noonan syndrome|polydactyly with neonatal chondrodystrophy, type III|SRPS1|SRTD3|short-rib thoracic dysplasia 3 with or without polydactyly; SRTD3|short rib-polydactyly syndrome, type IIB|Verma-Naumoff syndrome|short rib-polydactyly syndrome, type 3|short-rib thoracic dysplasia 3 with or without polydactyly|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type 1 MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 biolink:Disease mondo Orphanet:217330|MESH:C567760|OMIM:613092|SCTID:721840000 Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). ORPHA:217330|SNOMEDCT:721840000|http://identifiers.org/omim/613092|MESH:C567760 http://purl.obolibrary.org/obo/MONDO_0013128 hyperuricemic nephropathy, familial juvenile, 2|REN-associated familial juvenile hyperuricemic nephropathy|hyperuricemic nephropathy, familial juvenile, type 2|FJHN type 2|early-onset hyperuricemia, Anemia, and progressive kidney failure|REN-associated FJHN|hyperuricemic nephropathy, familial juvenile, 2; HNFJ2|familial juvenile hyperuricemic nephropathy type 2|REN-associated kidney disease|autosomal dominant tubulointerstitial kidney disease due to mutations in REN|REN familial juvenile hyperuricemic nephropathy|HNFJ2|REN-related autosomal dominant tubulointerstitial kidney disease|familial juvenile hyperuricemic nephropathy caused by mutation in REN|ADTKD-REN ordo_disease MONDO:0015789 non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations biolink:Disease mondo ICD10:E23.0|Orphanet:178025 ORPHA:178025 http://purl.obolibrary.org/obo/MONDO_0015789 ordo_group_of_disorders MONDO:0015780 dyskeratosis congenita biolink:Disease mondo MedDRA:10062759|SCTID:74911008|Orphanet:1775|MESH:D019871|UMLS:C0265965|NCIT:C111802|OMIMPS:127550|GARD:0010905|DOID:2729|ICD10:Q82.8 Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. NCIT:C111802|SNOMEDCT:74911008|ORPHA:1775|UMLS:C0265965|MEDDRA:10062759|MESH:D019871|DOID:2729 http://purl.obolibrary.org/obo/MONDO_0015780 Zinsser-Engman-Cole syndrome|Hoyeraal-Hreidarsson syndrome|Zinsser-Engman-Cole syndrome|Zinsser Cole Engman syndrome|DKC|DC|DKC clingen|gard_rare|ordo_disease GO:0035150 regulation of tube size biolink:OntologyClass mondo Ensuring that a tube is of the correct length and diameter. Tube size must be maintained not only during tube formation, but also throughout development and in some physiological processes. http://purl.obolibrary.org/obo/GO_0035150 MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 biolink:Disease mondo Orphanet:177904|UMLS:CN200366|ICD10:Q87.1 UMLS:CN200366|ORPHA:177904 http://purl.obolibrary.org/obo/MONDO_0015784 ordo_etiological_subtype GO:0050770 regulation of axonogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. http://purl.obolibrary.org/obo/GO_0050770 NCBITaxon:11250 Human orthopneumovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11250 Human respiratory syncytial virus|human RSV|HRSV MONDO:0013121 GLC3C biolink:Disease mondo OMIM:613085 http://identifiers.org/omim/613085 http://purl.obolibrary.org/obo/MONDO_0013121 glaucoma 3, primary congenital, C|GLC3C|glaucoma 3, primary congenital, C; GLC3C MONDO:0013122 glaucoma 3, primary congenital, d biolink:Disease mondo OMIM:613086|UMLS:C2751316|MESH:C567765 http://identifiers.org/omim/613086|MESH:C567765|UMLS:C2751316 http://purl.obolibrary.org/obo/MONDO_0013122 glaucoma 3, primary congenital, D; GLC3D|glaucoma 3, primary congenital, type D|GLC3D|glaucoma 3, primary congenital, d GO:0050771 negative regulation of axonogenesis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis. http://purl.obolibrary.org/obo/GO_0050771 down regulation of axonogenesis|inhibition of axonogenesis|down-regulation of axonogenesis|downregulation of axonogenesis MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 biolink:Disease mondo Orphanet:177901|UMLS:CN200365|ICD10:Q87.1 UMLS:CN200365|ORPHA:177901 http://purl.obolibrary.org/obo/MONDO_0015783 ordo_etiological_subtype MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome biolink:Disease mondo Orphanet:1779|UMLS:CN200364 Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. UMLS:CN200364|ORPHA:1779 http://purl.obolibrary.org/obo/MONDO_0015782 ordo_malformation_syndrome MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome biolink:Disease mondo UMLS:C2931522|ICD10:Q87.8|GARD:0004778|Orphanet:1778|MESH:C537529|SCTID:716337006 Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. UMLS:C2931522|SNOMEDCT:716337006|MESH:C537529|ORPHA:1778 http://purl.obolibrary.org/obo/MONDO_0015781 Seaver Cassidy syndrome|hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies|facial dysmorphism shawl scrotum joint laxity|Seaver-Cassidy syndrome ordo_malformation_syndrome MONDO:0013120 46,XY sex reversal 5 biolink:Disease mondo OMIM:613080|MESH:C567766|UMLS:C2751317 http://identifiers.org/omim/613080|MESH:C567766|UMLS:C2751317 http://purl.obolibrary.org/obo/MONDO_0013120 46,XY gonadal dysgenesis, complete, Cbx2-related|46,XY sex reversal 5|46,XY SEX reversal 5; SRXY5|46,XY Sex reversal type 5|disorder of Sex development, 46,XY, Cbx2-related|SRXY5|Sex reversal, XY, Cbx2-related|46,XY Sex reversal, Cbx2-related ENVO:00000100 valley biolink:OntologyClass mondo A depression which has been formed as a result of erosion by water or ice and which is low-lying, bordered by higher ground, and especially elongate. http://purl.obolibrary.org/obo/ENVO_00000100 glacial trough|chasm|dale|median valley|glacial gorge|shelf valley|hollow|glen|water gap|goe|gulch|coulee|trench|ravine|gorge|re-entrant|lavaka|gully|graben|moat|seachannel|strath|vale HGNC:12407 TUBA4A biolink:OntologyClass mondo http://identifiers.org/hgnc/12407 HGNC:12412 TUBB2A biolink:OntologyClass mondo http://identifiers.org/hgnc/12412 HGNC:12410 TUBA8 biolink:OntologyClass mondo http://identifiers.org/hgnc/12410 HGNC:12417 TUBG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12417 ECTO:9002066 refrigerant exposure biolink:OntologyClass mondo An exposure to refrigerant. http://purl.obolibrary.org/obo/ECTO_9002066 exposure to refrigerant GO:0001932 regulation of protein phosphorylation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. http://purl.obolibrary.org/obo/GO_0001932 regulation of protein amino acid phosphorylation GO:0001933 negative regulation of protein phosphorylation biolink:OntologyClass mondo Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. http://purl.obolibrary.org/obo/GO_0001933 downregulation of protein amino acid phosphorylation|down regulation of protein amino acid phosphorylation|inhibition of protein amino acid phosphorylation|negative regulation of protein amino acid phosphorylation|down-regulation of protein amino acid phosphorylation GO:0001934 positive regulation of protein phosphorylation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. http://purl.obolibrary.org/obo/GO_0001934 positive regulation of protein amino acid phosphorylation|stimulation of protein amino acid phosphorylation|up regulation of protein amino acid phosphorylation|up-regulation of protein amino acid phosphorylation|activation of protein amino acid phosphorylation|upregulation of protein amino acid phosphorylation GO:0001942 hair follicle development biolink:OntologyClass mondo The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open. http://purl.obolibrary.org/obo/GO_0001942 CHEBI:50406 probe biolink:ChemicalSubstance mondo A role played by a molecular entity used to study the microscopic environment. http://purl.obolibrary.org/obo/CHEBI_50406 OBO:exo.obo#interacts_with_an_exposure_stressor_via interacts_with_an_exposure stressor_via biolink:OntologyClass mondo http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via UBERON:0014852 chorda tendinea of right ventricle biolink:AnatomicalEntity mondo Chorda tendinea which is attached to the leaflet of tricuspid valve and is continuous with the endocardium of papillary muscle of right ventricle. http://purl.obolibrary.org/obo/UBERON_0014852 HP:0010674 Abnormality of the curvature of the vertebral column biolink:PhenotypicFeature mondo UMLS:C4023747 The presence of an abnormal curvature of the vertebral column. http://purl.obolibrary.org/obo/HP_0010674 Abnormal curve of the spine|Curvature of spine|Curved spine|Abnormal curving of the spine|Abnormal curve of the backbone UBERON:0014851 chorda tendinea of left ventricle biolink:AnatomicalEntity mondo Chorda tendinea which is attached to the leaflet of mitral valve and is continuous with the endocardium of papillary muscle of left ventricle. http://purl.obolibrary.org/obo/UBERON_0014851 HGNC:12423 TULP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12423 HGNC:12428 TWIST1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12428 UBERON:0000211 ligament biolink:AnatomicalEntity mondo Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ. http://purl.obolibrary.org/obo/UBERON_0000211 ligament organ HGNC:12420 TUFM biolink:OntologyClass mondo http://identifiers.org/hgnc/12420 GO:0001944 vasculature development biolink:OntologyClass mondo The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. http://purl.obolibrary.org/obo/GO_0001944 vascular system development HGNC:9751 QARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9751 UBERON:0002871 hypoglossal nucleus biolink:AnatomicalEntity mondo Nucleus forming a longitudinal cell column in the medulla, close beneath the floor of the 4th ventricle, containing motor neurons that innervate the muscles of the tongue (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 453) http://purl.obolibrary.org/obo/UBERON_0002871 nucleus of hypoglossal nerve|hypoglossal nerve nucleus|hypoglossal XII nucleus|nucleus nervi hypoglossi|nucleus hypoglossalis|nucleus nervi hypoglossi|hypoglossal nucleus|twelfth cranial nerve nucleus HGNC:9752 QDPR biolink:OntologyClass mondo http://identifiers.org/hgnc/9752 CHEBI:25435 mutagen biolink:ChemicalSubstance mondo An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution. http://purl.obolibrary.org/obo/CHEBI_25435 mutagenos|mutagene|mutagenic agent|mutagenes|mutagens|mutageno NCBITaxon:35493 Streptophyta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_35493 HP:0032016 Abnormal sputum biolink:PhenotypicFeature mondo Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. http://purl.obolibrary.org/obo/HP_0032016 Abnormal sputum morphology HGNC:7105 MITF biolink:OntologyClass mondo http://identifiers.org/hgnc/7105 HGNC:9768 RAB28 biolink:OntologyClass mondo http://identifiers.org/hgnc/9768 HGNC:7104 MIPEP biolink:OntologyClass mondo http://identifiers.org/hgnc/7104 HGNC:9766 RAB27A biolink:OntologyClass mondo http://identifiers.org/hgnc/9766 HGNC:7106 ATXN3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7106 HP:0010668 Abnormality of the zygomatic bone biolink:PhenotypicFeature mondo UMLS:C4023749 An abnormality of the zygomatic bone. http://purl.obolibrary.org/obo/HP_0010668 Deformity of the zygomatic bone|Malformation of the zygomatic bone|Anomaly of the zygomatic bone|Deformity of the cheekbone|Abnormality of the cheekbone HGNC:7108 MKKS biolink:OntologyClass mondo http://identifiers.org/hgnc/7108 UBERON:0000200 gyrus biolink:AnatomicalEntity mondo A ridge on the cerebral cortex. It is generally surrounded by one or more sulci . http://purl.obolibrary.org/obo/UBERON_0000200 folia|gyri|neuraxis gyrus|gyrus of cerebrum|cerebral gyrus|gyrus of neuraxis|folium of brain|gyrus of cerebral hemisphere|gyri of cerebrum|folium UBERON:0000203 pallium biolink:AnatomicalEntity mondo Dorsal part (roof region) of the telencephalon[GO]. http://purl.obolibrary.org/obo/UBERON_0000203 dorsal telencephalic area|dorsal part of telencephalon|dorsal telencephalon|area dorsalis telencephali GO:0001910 regulation of leukocyte mediated cytotoxicity biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity. http://purl.obolibrary.org/obo/GO_0001910 regulation of immune cell mediated cytotoxicity|regulation of leucocyte mediated cytotoxicity|regulation of immune cell mediated cell death|regulation of immune cell mediated cell killing GO:0001911 negative regulation of leukocyte mediated cytotoxicity biolink:OntologyClass mondo Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity. http://purl.obolibrary.org/obo/GO_0001911 down-regulation of leukocyte mediated cytotoxicity|down regulation of leukocyte mediated cytotoxicity|downregulation of leukocyte mediated cytotoxicity|inhibition of leukocyte mediated cytotoxicity|negative regulation of immune cell mediated cytotoxicity|negative regulation of leucocyte mediated cytotoxicity GO:0001912 positive regulation of leukocyte mediated cytotoxicity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity. http://purl.obolibrary.org/obo/GO_0001912 activation of leukocyte mediated cytotoxicity|stimulation of leukocyte mediated cytotoxicity|upregulation of leukocyte mediated cytotoxicity|positive regulation of immune cell mediated cytotoxicity|positive regulation of leucocyte mediated cytotoxicity|up-regulation of leukocyte mediated cytotoxicity|up regulation of leukocyte mediated cytotoxicity HGNC:7103 MIP biolink:OntologyClass mondo http://identifiers.org/hgnc/7103 HGNC:7102 MINPP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7102 ECTO:0000979 exposure to temperature of environmental material biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to temperature of environmental material. http://purl.obolibrary.org/obo/ECTO_0000979 temperature of environmental material exposure ECTO:9002063 food component exposure biolink:OntologyClass mondo An exposure to food component. http://purl.obolibrary.org/obo/ECTO_9002063 exposure to food component ECTO:9002062 food propellant exposure biolink:OntologyClass mondo An exposure to food propellant. http://purl.obolibrary.org/obo/ECTO_9002062 exposure to food propellant HP:0010651 Abnormal meningeal morphology biolink:PhenotypicFeature mondo UMLS:C4023758 An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. http://purl.obolibrary.org/obo/HP_0010651 Abnormality of the meninges CHEBI:25442 mycotoxin biolink:ChemicalSubstance mondo Poisonous substance produced by fungi. http://purl.obolibrary.org/obo/CHEBI_25442 mycotoxins|fungal toxins HGNC:12406 TUB biolink:OntologyClass mondo http://identifiers.org/hgnc/12406 HGNC:12405 TTR biolink:OntologyClass mondo http://identifiers.org/hgnc/12405 HGNC:12404 TTPA biolink:OntologyClass mondo http://identifiers.org/hgnc/12404 HGNC:12403 TTN biolink:OntologyClass mondo http://identifiers.org/hgnc/12403 ECTO:0000980 exposure to temperature of air biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to temperature of air. http://purl.obolibrary.org/obo/ECTO_0000980 temperature of air exposure HGNC:7114 MKRN3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7114 ECTO:9002059 food packaging gas exposure biolink:OntologyClass mondo An exposure to food packaging gas. http://purl.obolibrary.org/obo/ECTO_9002059 exposure to food packaging gas MONDO:0003623 obsolete pancreatic acinar cell adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003623 MONDO:0003624 acinic cell breast carcinoma biolink:Disease mondo DOID:5743|NCIT:C40367|UMLS:C1515868 A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation. UMLS:C1515868|DOID:5743|NCIT:C40367 http://purl.obolibrary.org/obo/MONDO_0003624 acinic cell breast carcinoma|acinar cell breast carcinoma|breast carcinoma of acinar cell MONDO:0003625 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003625 MONDO:0003626 uterine ligament serous adenocarcinoma biolink:Disease mondo DOID:5747|UMLS:C1519872|NCIT:C40136 A rare serous adenocarcinoma that arises from the uterine ligament. DOID:5747|UMLS:C1519872|NCIT:C40136 http://purl.obolibrary.org/obo/MONDO_0003626 uterine ligament serous adenocarcinoma UBERON:0012240 urethral meatus biolink:AnatomicalEntity mondo external opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located between the clitoris and the vagina in the vulvular vestibule of the female genitalia[MP]. http://purl.obolibrary.org/obo/UBERON_0012240 external urethral ostium|urethral meatus|external urinary meatus|orificium urethrae externum|external meatus of urethra|external urethral orifice|orificium urethræ externum|urinary meatus|meatus urinarius MONDO:0003620 peripheral nervous system disease biolink:Disease mondo SCTID:42658009|ICD9:356.9|DOID:574|ICD10:G64|NCIT:C27580|MESH:D010523|ICD9:350-359.99 A disease involving the peripheral nervous system. DOID:574|SNOMEDCT:42658009|MESH:D010523|NCIT:C27580 http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disorder|peripheral nerve disease|disorder of peripheral nervous system|nerve disease, peripheral|disease or disorder of peripheral nervous system|peripheral nervous disease|peripheral nerve diseases|peripheral nervous system disease or disorder|disease of peripheral nervous system|disorder of peripheral nervous system|disorder of the peripheral nervous system|peripheral nervous system disorders|nerve diseases, peripheral|peripheral neuropathy|peripheral nervous system disease|peripheral nerve disease|PNS (peripheral nervous system) diseases|peripheral neuropathy|PNS diseases|peripheral Neuropathies|PNS disease|neuropathy, peripheral GO:0050900 leukocyte migration biolink:OntologyClass mondo The movement of a leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/GO_0050900 leucocyte trafficking|immune cell trafficking|leucocyte migration|immune cell migration|leukocyte trafficking MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor biolink:Disease mondo NCIT:C27455|DOID:5740|UMLS:C1336009 A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide. DOID:5740|UMLS:C1336009|NCIT:C27455 http://purl.obolibrary.org/obo/MONDO_0003621 small intestinal VIPoma|small intestinal VIP-producing neuroendocrine tumor|small intestinal VIP producing tumor|small intestinal VIP-producing NET|small intestinal vasoactive intestinal peptide producing tumor MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor biolink:Disease mondo NCIT:C27454|DOID:5741|UMLS:C2033037 A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome. DOID:5741|NCIT:C27454|UMLS:C2033037 http://purl.obolibrary.org/obo/MONDO_0003622 pancreatic VIP-producing neuroendocrine tumor|pancreatic VIP producing NET|pancreatic vasoactive intestinal peptide producing tumor|pancreatic VIP producing tumor|pancreatic vasoactive intestinal peptide producing neoplasm|pancreatic VIP producing neoplasm CHEBI:25414 monoatomic monocation biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25414 monoatomic monocations|monovalent inorganic cations MONDO:0015609 advanced sleep phase syndrome biolink:Disease mondo DOID:0050628|ICD10:G47.2|Orphanet:164736|SCTID:715829003|OMIMPS:604348|GARD:0009242 Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions. SNOMEDCT:715829003|ORPHA:164736|DOID:0050628 http://purl.obolibrary.org/obo/MONDO_0015609 advanced sleep phase syndrome, familial|FASPS|familial advanced sleep phase syndrome|familial advanced sleep-phase syndrome ordo_disease MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation biolink:Disease mondo UMLS:CN199981|Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. ORPHA:164726|UMLS:CN199981 http://purl.obolibrary.org/obo/MONDO_0015608 AML and myelodysplastic syndromes related to radiation ordo_disease UBERON:0012242 internal urethral orifice biolink:AnatomicalEntity mondo the usually crescent-shaped opening of the urinary bladder into the urethra, placed at the anteroinferior angle (apex) of the urinary bladder trigone http://purl.obolibrary.org/obo/UBERON_0012242 vesicourethral orifice|internal urethral ostium|internal urethral ostium|orificium urethrae internum|internal meatus of urethra|ostium orificium internum|internal urethral orifice of urinary bladder|internal urinary meatus|ostium urethrae internum MONDO:0015607 partial chromosome Y deletion biolink:Disease mondo ICD10:Q98.6|Orphanet:1646|HGNC:11311|MESH:C536297|SCTID:717158001|GARD:0004230 Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. ORPHA:1646|MESH:C536297|UMLS:C1507149|SNOMEDCT:717158001 http://purl.obolibrary.org/obo/MONDO_0015607 Y-chromosome microdeletions|partial deletion of the long arm of the Y chromosome|partial deletion of Y|Male sterility due to chromosome Y deletion|partial deletion of Y chromosome short arm|partial deletion of chromosome Y ordo_malformation_syndrome|gard_rare MONDO:0015606 Xp22.3 microdeletion syndrome biolink:Disease mondo GARD:0013170|Orphanet:1643|ICD10:Q99.8|SCTID:726733007|UMLS:CN199978 Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. SNOMEDCT:726733007|ORPHA:1643|UMLS:CN199978 http://purl.obolibrary.org/obo/MONDO_0015606 Del(X)(p23) gard_rare|ordo_malformation_syndrome UBERON:0012241 male urethral meatus biolink:AnatomicalEntity mondo A urethral meatus that is part of a male urethra[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0012241 distal urethral opening of male|male urethra ostium|external orifice of male urethra|urethral meatus of penile urethra|ostium urethrae externum (urethra masculina)|external urethral orifice (male)|urethral opening of penile urethra UBERON:0012248 cervical mucosa biolink:AnatomicalEntity mondo Lining of the head of the uterus (cervix); contains large branched glands; does not undergo sloughing. http://purl.obolibrary.org/obo/UBERON_0012248 GO:0050908 detection of light stimulus involved in visual perception biolink:OntologyClass mondo The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. http://purl.obolibrary.org/obo/GO_0050908 sensory transduction of light stimulus during visual perception|visual perception, detection of light stimulus|sensory transduction of light during visual perception|visual perception, sensory transduction of light stimulus|sensory detection of light stimulus during visual perception|visual perception, sensory transduction during perception of light|sensory detection of light during visual perception UBERON:0012247 cervical gland biolink:AnatomicalEntity mondo mucus-secreting glands in the mucosa of the uterine cervix http://purl.obolibrary.org/obo/UBERON_0012247 glandulae cervicales GO:0050905 neuromuscular process biolink:OntologyClass mondo Any process pertaining to the functions of the nervous and muscular systems of an organism. http://purl.obolibrary.org/obo/GO_0050905 neuromotor process|neuromuscular physiological process UBERON:0012246 thyroid follicular lumen biolink:AnatomicalEntity mondo A follicular lumen is the closed cavity within a follicle of the thyroid gland. It is surrounded by follicular cells and filled with colloid, a concentrated solution of thyroglobulin http://purl.obolibrary.org/obo/UBERON_0012246 follicular lumen|thyroid follicle lumen|lumen of thyroid follicle|thyroid follicular space GO:0050906 detection of stimulus involved in sensory perception biolink:OntologyClass mondo The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal. http://purl.obolibrary.org/obo/GO_0050906 sensory perception, stimulus detection|sensory detection of stimulus|sensory transduction|sensory perception, sensory transduction of stimulus MONDO:0015612 Dent disease biolink:Disease mondo UMLS:C0878681|DOID:0050699|MedDRA:10069199|MESH:D057973|UMLS:CN239269|ICD10:N25.8|SCTID:444645005|OMIMPS:300009|Orphanet:1652|GARD:0013105|NCIT:C123260 Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. ORPHA:1652|DOID:0050699|UMLS:C1839874|SNOMEDCT:444645005|UMLS:C0878681|MEDDRA:10069199|MESH:C545036|NCIT:C123260|UMLS:CN239269|MESH:D057973 http://purl.obolibrary.org/obo/MONDO_0015612 renal Fanconi syndrome with nephrocalcinosis and renal stones|Dents disease|low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis|X-linked recessive hypercalciuric hypophosphatemic rickets|X-linked recessive hypophosphatemic rickets|Dent's disease|Dent syndrome|X-linked recessive nephrolithiasis|Dent disease 2|Dent disease 1 ordo_disease HGNC:7127 MLH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7127 MONDO:0015611 neutral lipid storage disease biolink:Disease mondo GARD:0003262|DOID:0050729|Orphanet:165|ICD10:E75.5|UMLS:CN199983 Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. ORPHA:165|DOID:0050729|MESH:C536560|UMLS:CN199983|UMLS:C0268238 http://purl.obolibrary.org/obo/MONDO_0015611 Chanarin-Dorfman syndrome|lipidosis with triglyceride storage disease|lipidosis with triglycerid storage disease ordo_group_of_disorders MONDO:0015610 acquired aplastic anemia biolink:Disease mondo SCTID:55907008|ICD10:D61.2|ICD10:D61.1|Orphanet:164823|UMLS:C0271907|EFO:0006926 An instance of aplastic anemia that is acquired during the lifetime of the individual. UMLS:C0271907|ORPHA:164823|SNOMEDCT:55907008 http://purl.obolibrary.org/obo/MONDO_0015610 rare acquired aplastic anemia|acquired aplastic anemia ordo_group_of_disorders UBERON:0012239 urinary bladder vasculature biolink:AnatomicalEntity mondo network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys[MP] http://purl.obolibrary.org/obo/UBERON_0012239 blood vessel of bladder|bladder vasculature|set of urinary bladder blood vessels|blood vessels of bladder HGNC:9788 RAB7A biolink:OntologyClass mondo http://identifiers.org/hgnc/9788 GO:2001198 regulation of dendritic cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of dendritic cell differentiation. http://purl.obolibrary.org/obo/GO_2001198 GO:2001199 negative regulation of dendritic cell differentiation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation. http://purl.obolibrary.org/obo/GO_2001199 HGNC:7128 MLH3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7128 MONDO:0015616 obsolete rare genetic intestinal disease biolink:Disease mondo UMLS:CN199992|Orphanet:165655 ORPHA:165655|UMLS:CN199992 http://purl.obolibrary.org/obo/MONDO_0015616 genetic intestinal disease ordo_group_of_disorders|obsoletion_candidate MONDO:0015615 obsolete rare genetic gastroenterological disease biolink:Disease mondo Orphanet:165652|UMLS:CN199991 ORPHA:165652|UMLS:CN199991 http://purl.obolibrary.org/obo/MONDO_0015615 rare genetic gastrointestinal system disease ordo_group_of_disorders|obsoletion_candidate NCBITaxon:577468 unclassified Micrococcales organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_577468 unclassified Micrococcineae MONDO:0015614 dermatitis herpetiformis biolink:Disease mondo Orphanet:1656|COHD:140487|EFO:1000684|ICD10:L13.0|Wikipedia:Dermatitis_herpetiformis|MESH:D003874|UMLS:C0011608|NCIT:C26742|MedDRA:10012468|SCTID:111196000|ICD9:694.0|DOID:8505 Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance. SNOMEDCT:111196000|ORPHA:1656|UMLS:C0011608|NCIT:C26742|DOID:8505|MEDDRA:10012468|MESH:D003874 http://purl.obolibrary.org/obo/MONDO_0015614 Durhing-Brocq disease|dermatosis herpetiformis|dermatitis herpetiformis|Duhring's disease ordo_disease MONDO:0015613 dentin dysplasia biolink:Disease mondo MESH:D003805|ICD10:K00.5|SCTID:109492001|Orphanet:1653|DOID:701|ICD9:520.5 Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II. SNOMEDCT:109492001|ORPHA:1653|DOID:701|UMLS:C0011430|MESH:D003805 http://purl.obolibrary.org/obo/MONDO_0015613 DD|dentinal dysplasia ordo_disease ECTO:9002021 astringent exposure biolink:OntologyClass mondo An exposure to astringent. http://purl.obolibrary.org/obo/ECTO_9002021 exposure to astringent HGNC:7121 MKS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7121 MONDO:0003616 salpingitis isthmica nodosa biolink:Disease mondo SCTID:36742000|NCIT:C40119|DOID:5730|UMLS:C0269043 Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy. NCIT:C40119|SNOMEDCT:36742000|DOID:5730|UMLS:C0269043 http://purl.obolibrary.org/obo/MONDO_0003616 MONDO:0003617 chronic salpingitis biolink:Disease mondo ICD10:N70.11|NCIT:C40118|DOID:5731|SCTID:55551005|UMLS:C0269041 Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack. NCIT:C40118|DOID:5731|SNOMEDCT:55551005|UMLS:C0269041 http://purl.obolibrary.org/obo/MONDO_0003617 salpingitis, chronic ECTO:9002028 greenhouse gas exposure biolink:OntologyClass mondo An exposure to greenhouse gas. http://purl.obolibrary.org/obo/ECTO_9002028 exposure to greenhouse gas MONDO:0003618 pyosalpinx biolink:Disease mondo SCTID:397810006|ICD10:N70|UMLS:C0034220|NCIT:C34968|DOID:5732 The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain. SNOMEDCT:397810006|DOID:5732|NCIT:C34968|UMLS:C0034220 http://purl.obolibrary.org/obo/MONDO_0003618 pyosalpingitis MONDO:0003619 salpingitis biolink:Disease mondo NCIT:C26880|DOID:5733|SCTID:88157006|ICD10:N70.91|UMLS:C0036130|MESH:D012488 Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. NCIT:C26880|SNOMEDCT:88157006|DOID:5733|MESH:D012488|UMLS:C0036130 http://purl.obolibrary.org/obo/MONDO_0003619 fallopian tube inflammation|inflammation of fallopian tube MONDO:0003634 proteinuria biolink:Disease mondo MESH:D011507|COHD:75650|DOID:576|ICD9:791.0|ICD10:R80.9|ICD10:R80 The presence of abnormal amounts of protein in the urine. DOID:576|MESH:D011507|NCIT:C38012 http://purl.obolibrary.org/obo/MONDO_0003634 MONDO:0003635 sebaceous breast carcinoma biolink:Disease mondo DOID:5760|UMLS:C1519207|NCIT:C40369 A very rare breast adenocarcinoma with sebaceous differentiation. DOID:5760|UMLS:C1519207|NCIT:C40369 http://purl.obolibrary.org/obo/MONDO_0003635 sebaceous adenocarcinoma of breast|breast sebaceous adenocarcinoma|sebaceous breast carcinoma MONDO:0003636 vulvar sebaceous carcinoma biolink:Disease mondo DOID:5761|UMLS:C1520094|NCIT:C40309 A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests. DOID:5761|UMLS:C1520094|NCIT:C40309 http://purl.obolibrary.org/obo/MONDO_0003636 mammalian vulva sebaceous adenocarcinoma|sebaceous adenocarcinoma of mammalian vulva UBERON:0014891 brainstem white matter biolink:AnatomicalEntity mondo White matter that is part of a brainstem [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0014891 brainstem tracts|brainstem tracts and commissures|brainstem tract/commissure|brain stem white matter MONDO:0003637 clear cell-sugar-tumor of the lung biolink:Disease mondo UMLS:C1333065|NCIT:C38152|DOID:5763 A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative. DOID:5763|NCIT:C38152|UMLS:C1333065 http://purl.obolibrary.org/obo/MONDO_0003637 clear cell-Sugar-tumor of lung|clear cell-Sugar-tumor of the lung|lung clear cell-sugar-tumor|Sugar tumor|CCSTL|lung clear cell tumor MONDO:0003630 pancreatic serous cystadenocarcinoma biolink:Disease mondo UMLS:C1335315|DOID:5751|ICD10:C25.8|ICD10:C25.7|NCIT:C5724|ICD10:C25.2|ICD10:C25.1|ICD10:C25.0|Orphanet:424073 A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain. DOID:5751|NCIT:C5724|UMLS:C1335315|ORPHA:424073 http://purl.obolibrary.org/obo/MONDO_0003630 pancreas serous adenocarcinoma|serous cystadenocarcinoma of the pancreas|pancreatic serous cystadenocarcinoma|serous cystadenocarcinoma of pancreas ordo_disease MONDO:0003631 cervical serous adenocarcinoma biolink:Disease mondo UMLS:C1516431|DOID:5752|NCIT:C40201 A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen. DOID:5752|UMLS:C1516431|NCIT:C40201 http://purl.obolibrary.org/obo/MONDO_0003631 cervical serous adenocarcinoma MONDO:0003632 endocervicitis biolink:Disease mondo UMLS:C0014127|SCTID:31354001|NCIT:C26762|DOID:5757 Inflammation of the endocervix. DOID:5757|SNOMEDCT:31354001|NCIT:C26762|UMLS:C0014127 http://purl.obolibrary.org/obo/MONDO_0003632 inflammation of endocervix|endocervix inflammation MONDO:0003633 malignant mesenchymoma biolink:Disease mondo GARD:0003369|NCIT:C4268|ICDO:8990/3|DOID:5758 A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. DOID:5758|NCIT:C4268 http://purl.obolibrary.org/obo/MONDO_0003633 mesenchymoma, malignant|mesenchymoma, malignant (morphologic abnormality) UBERON:0014892 skeletal muscle organ biolink:AnatomicalEntity mondo A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle MONDO:0015601 X-linked intellectual disability, van Esch type biolink:Disease mondo SCTID:718914002|UMLS:CN226711|OMIM:301030|Orphanet:163976|ICD10:Q87.8 X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. SNOMEDCT:718914002|UMLS:CN226711|ORPHA:163976|http://identifiers.org/omim/301030 http://purl.obolibrary.org/obo/MONDO_0015601 VAN ESCH-O'DRISCOLL SYNDROME; VEODS|Mental Retardation, X-Linked, Syndromic, Van Esch-O'Driscoll Type ordo_malformation_syndrome MONDO:0015600 X-linked intellectual disability, Cilliers type biolink:Disease mondo Orphanet:163971|UMLS:CN226710|SCTID:719013004|ICD10:Q87.8 X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). UMLS:CN226710|ORPHA:163971|SNOMEDCT:719013004 http://purl.obolibrary.org/obo/MONDO_0015600 X-linked intellectual disability-microcephaly-testicular failure syndrome ordo_disease MONDO:0015605 distal monosomy 9p biolink:Disease mondo ICD10:Q93.5|SCTID:763530000|Orphanet:1642|MESH:C538025 Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. MESH:C538025|ORPHA:1642|SNOMEDCT:763530000 http://purl.obolibrary.org/obo/MONDO_0015605 telomeric deletion 9p|monosomy 9pter|distal monosomy type 9p|distal deletion 9p ordo_malformation_syndrome MONDO:0015604 middle ear anomaly biolink:Disease mondo MedDRA:10060957|Orphanet:164004|ICD10:Q16.4|ICD10:Q16.3 ORPHA:164004|UMLS:C0266599|MEDDRA:10060957 http://purl.obolibrary.org/obo/MONDO_0015604 ordo_group_of_disorders MONDO:0015603 rare odontal or periodontal disorder biolink:Disease mondo UMLS:CN226712|Orphanet:164001 ORPHA:164001|UMLS:CN226712 http://purl.obolibrary.org/obo/MONDO_0015603 ordo_group_of_disorders|obsoletion_candidate GO:0001909 leukocyte mediated cytotoxicity biolink:OntologyClass mondo The directed killing of a target cell by a leukocyte. http://purl.obolibrary.org/obo/GO_0001909 leucocyte mediated cytotoxicity|immune cell mediated cytotoxicity|immune cell mediated cell death|immune cell mediated cell killing MONDO:0015602 obsolete developmental delay-deafness syndrome, Hildebrand type biolink:Disease mondo Orphanet:163988|UMLS:CN199975 ORPHA:163988|UMLS:CN199975 http://purl.obolibrary.org/obo/MONDO_0015602 HGNC:7132 KMT2A biolink:OntologyClass mondo http://identifiers.org/hgnc/7132 GO:0001906 cell killing biolink:OntologyClass mondo Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions. http://purl.obolibrary.org/obo/GO_0001906 necrosis MONDO:0003627 rheumatic pulmonary valve disease biolink:Disease mondo DOID:5748|UMLS:C0155579|COHD:317296|SCTID:18687009|ICD10:I09.89|ICD9:397.1 A rheumatologic disorder that involves the pulmonary valve. SNOMEDCT:18687009|DOID:5748|UMLS:C0155579 http://purl.obolibrary.org/obo/MONDO_0003627 rheumatologic disorder of pulmonary valve|rheumatic pulmonary incompetence|rheumatic disease of pulmonary valve|pulmonary valve rheumatologic disorder MONDO:0003628 pulmonary valve disease biolink:Disease mondo DOID:5749|SCTID:76267008|NCIT:C78579|UMLS:C0034087|ICD9:424.3|COHD:319845 A disease involving the pulmonary valve. NCIT:C78579|DOID:5749|SNOMEDCT:76267008|UMLS:C0034087 http://purl.obolibrary.org/obo/MONDO_0003628 pulmonary valve disease|disorder of pulmonary valve|disease or disorder of pulmonary valve|disease of pulmonary valve|pulmonary valve disease or disorder|pulmonary valve disorder|disorder of pulmonary valve HGNC:7133 KMT2D biolink:OntologyClass mondo http://identifiers.org/hgnc/7133 MONDO:0003629 uterine corpus serous adenocarcinoma biolink:Disease mondo UMLS:C1336921|ONCOTREE:USC|DOID:5750 A serous adenocarcinoma that involves the uterine corpus. DOID:5750|UMLS:C1336921 http://purl.obolibrary.org/obo/MONDO_0003629 uterine papillary serous carcinoma|uterine serous carcinoma/uterine papillary serous carcinoma|body of uterus serous adenocarcinoma|uterine serous carcinoma MONDO:0003601 mediastinum liposarcoma biolink:Disease mondo NCIT:C6614|UMLS:C1334663|DOID:5713 A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum. UMLS:C1334663|DOID:5713|NCIT:C6614 http://purl.obolibrary.org/obo/MONDO_0003601 mediastinal liposarcoma|mediastinum liposarcoma|lip mediastinum sarcoma|liposarcoma of mediastinum|liposarcoma of the mediastinum MONDO:0003602 intracranial liposarcoma biolink:Disease mondo UMLS:C1334242|DOID:5714|NCIT:C6973 A malignant adipose tissue neoplasm of the intracranial region. UMLS:C1334242|DOID:5714|NCIT:C6973 http://purl.obolibrary.org/obo/MONDO_0003602 MONDO:0003603 non-functioning pituitary gland neoplasm biolink:Disease mondo NCIT:C4009|SCTID:448563005 A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome. SNOMEDCT:448563005|NCIT:C4009 http://purl.obolibrary.org/obo/MONDO_0003603 non-functioning tumor of pituitary gland|non-functioning tumor of the pituitary|nonfunctional pituitary gland neoplasm|non-functioning tumor of pituitary|non-functioning neoplasm of the pituitary gland|non-functioning neoplasm of pituitary gland|Nonfunctioning pituitary tumor|non-functioning neoplasm of the pituitary|non-functioning pituitary gland tumor|non-functioning neoplasm of pituitary|non-functioning pituitary tumor|pituitary gland non-functioning endocrine neoplasm|non-functioning pituitary neoplasm|non-functioning endocrine neoplasm of pituitary gland|non-functioning pituitary gland neoplasm|non-functioning tumor of the pituitary gland ECTO:0000922 EC 3.5.1.4 (amidase) inhibitor exposure biolink:OntologyClass mondo An exposure to EC 3.5.1.4 (amidase) inhibitor. http://purl.obolibrary.org/obo/ECTO_0000922 exposure to EC 3.5.1.4 (amidase) inhibitor MONDO:0003604 functioning pituitary gland neoplasm biolink:Disease mondo ICD9:237.0|DOID:5716|SCTID:448148000|UMLS:C3163678|NCIT:C7047|UMLS:C0851693 A hormone producing pituitary gland tumor, associated with a hormonal syndrome. UMLS:C0851693|DOID:5716|NCIT:C7047|UMLS:C3163678|SNOMEDCT:448148000 http://purl.obolibrary.org/obo/MONDO_0003604 functioning pituitary tumor|functioning pituitary gland neoplasm|growth hormone producing pituitary tumor|secretory pituitary tumor|hormone producing pituitary neoplasm|pituitary gland functioning endocrine neoplasm|somatotropinoma|hormone producing pituitary cancer|pituitary tumors, hormone producing|functioning endocrine neoplasm of pituitary gland|pituitary neoplasms, hormone producing|functioning pituitary neoplasm GO:0050921 positive regulation of chemotaxis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/GO_0050921 upregulation of chemotaxis|stimulation of chemotaxis|up regulation of chemotaxis|up-regulation of chemotaxis|activation of chemotaxis GO:0050922 negative regulation of chemotaxis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/GO_0050922 down regulation of chemotaxis|inhibition of chemotaxis|down-regulation of chemotaxis|downregulation of chemotaxis GO:0050920 regulation of chemotaxis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/GO_0050920 MONDO:0003600 cutaneous liposarcoma biolink:Disease mondo NCIT:C5615|DOID:5712|UMLS:C1333175 A malignant adipose tissue neoplasm of the skin. UMLS:C1333175|DOID:5712|NCIT:C5615 http://purl.obolibrary.org/obo/MONDO_0003600 cutaneous liposarcoma|liposarcoma of zone of skin|liposarcoma of the skin|liposarcoma of skin|zone of skin liposarcoma|skin liposarcoma UBERON:0014885 distal epiphysis of distal phalanx of manual digit 5 biolink:AnatomicalEntity mondo A distal epiphysis that is part of a distal phalanx of manual digit 5. http://purl.obolibrary.org/obo/UBERON_0014885 distal epiphysis of distal phalanx of manual digit V|distal epiphysis of distal phalanx of little finger|head of distal phalanx of fifth finger|distal end of distal phalanx of little finger|distal end of distal phalanx of fifth finger|ungual tuberosity of distal phalanx of little finger|head of distal phalanx of little finger|head of distal phalanx of fifth digit of hand UBERON:0014886 distal epiphysis of distal phalanx of manual digit biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014886 distal end of distal phalanx of finger|head of distal phalanx of digit of manus|head of distal phalanx of digit of hand|head of distal phalanx of finger UBERON:0014887 distal epiphysis of distal phalanx of digit biolink:AnatomicalEntity mondo A distal epiphysis that is part of a distal phalanx. http://purl.obolibrary.org/obo/UBERON_0014887 head of distal phalanx of digit of autopod|distal end of distal phalanx of digit|head of distal phalanx|head of distal phalanx of digit UBERON:0014881 distal epiphysis of distal phalanx of manual digit 1 biolink:AnatomicalEntity mondo A distal epiphysis that is part of a distal phalanx of manual digit 1. http://purl.obolibrary.org/obo/UBERON_0014881 ungual tuberosity of distal phalanx of thumb|head of distal phalanx of thumb|head of distal phalanx of first digit of hand|distal end of phalanx of right thumb|distal epiphysis of distal phalanx of manual digit I|distal epiphysis of distal phalanx of thumb HGNC:7146 TRPM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7146 ECTO:0000931 environmental contaminant exposure biolink:OntologyClass mondo An exposure to environmental contaminant. http://purl.obolibrary.org/obo/ECTO_0000931 exposure to environmental contaminant MONDO:0003612 uterine ligament cancer biolink:Disease mondo NCIT:C126498|UMLS:C0864950|DOID:5727 A primary or metastatic malignant neoplasm that affects the uterine ligament. DOID:5727|NCIT:C126498|UMLS:C0864950 http://purl.obolibrary.org/obo/MONDO_0003612 tumor of the uterine ligament|cancer of uterine ligament|uterine ligament cancer|malignant uterine ligament neoplasm|malignant neoplasm of uterine ligament MONDO:0003613 obsolete diffuse peritoneal leiomyomatosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003613 MONDO:0003614 intravenous leiomyomatosis biolink:Disease mondo SCTID:254883003|ICD9:238.1|GARD:0010802|DOID:5729|UMLS:C0346200|NCIT:C4518 A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins. DOID:5729|NCIT:C4518|UMLS:C0346200|SNOMEDCT:254883003 http://purl.obolibrary.org/obo/MONDO_0003614 intravenous leiomyomatosis gard_rare MONDO:0003615 nerve compression syndrome biolink:Disease mondo MESH:D009408|SCTID:45781009|NCIT:C27221|DOID:573 Any nerve disorder caused by the entrapment and compression of a nerve. MESH:D009408|DOID:573|NCIT:C27221|SNOMEDCT:45781009 http://purl.obolibrary.org/obo/MONDO_0003615 entrapment neuropathy|peripheral nerve entrapment syndrome|compression neuropathy MONDO:0003610 rete ovarii cystadenoma biolink:Disease mondo DOID:5725|NCIT:C40019|UMLS:C1514907 An exceptionally rare cystadenoma that arises from the rete ovarii. UMLS:C1514907|DOID:5725|NCIT:C40019 http://purl.obolibrary.org/obo/MONDO_0003610 rete ovarii cystadenoma HGNC:7150 MLYCD biolink:OntologyClass mondo http://identifiers.org/hgnc/7150 NCBITaxon:359160 BOP clade organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_359160 BEP clade MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease biolink:Disease mondo DOID:5726|NCIT:C40142|UMLS:C3642324 A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences. DOID:5726|UMLS:C3642324|NCIT:C40142 http://purl.obolibrary.org/obo/MONDO_0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease|uterine ligament papillary cystadenoma UBERON:0014875 distal epiphysis of distal phalanx of pedal digit 5 biolink:AnatomicalEntity mondo A distal epiphysis that is part of a distal phalanx of pedal digit 5. http://purl.obolibrary.org/obo/UBERON_0014875 head of distal phalanx of fifth digit of foot|head of distal phalanx of little toe|distal epiphysis of distal phalanx of pedal digit V|ungual tuberosity of distal phalanx of fifth toe|distal end of distal phalanx of little toe|head of distal phalanx of fifth toe|distal epiphysis of distal phalanx of little toe UBERON:0014876 distal epiphysis of distal phalanx of pedal digit biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014876 distal end of distal phalanx of toe|head of distal phalanx of digit of pes|head of distal phalanx of toe|head of distal phalanx of digit of foot UBERON:0014871 distal epiphysis of distal phalanx of pedal digit 1 biolink:AnatomicalEntity mondo A distal epiphysis that is part of a distal phalanx of pedal digit 1. http://purl.obolibrary.org/obo/UBERON_0014871 ungual tuberosity of distal phalanx of big toe|head of distal phalanx of big toe|head of distal phalanx of great toe|distal epiphysis of distal phalanx of pedal digit I|head of distal phalanx of first digit of foot|distal epiphysis of distal phalanx of big toe|distal end of distal phalanx of big toe HGNC:7159 MMP13 biolink:OntologyClass mondo http://identifiers.org/hgnc/7159 MONDO:0003609 seminal vesicle cystadenoma biolink:Disease mondo UMLS:C1519234|DOID:5724|NCIT:C39907 A rare benign cystadenoma that arises from the seminal vesicle. NCIT:C39907|DOID:5724|UMLS:C1519234 http://purl.obolibrary.org/obo/MONDO_0003609 seminal vesicle cystadenoma HGNC:7154 MME biolink:OntologyClass mondo http://identifiers.org/hgnc/7154 MONDO:0003605 obsolete adrenal neuroblastoma biolink:Disease mondo A neuroblastoma arising from the adrenal gland. http://purl.obolibrary.org/obo/MONDO_0003605 MONDO:0003606 adrenal medulla cancer biolink:Disease mondo DOID:5719|UMLS:C0344456|ICD10:C74.1|GARD:0005755|NCIT:C4396|SCTID:371965009 A malignant neoplasm involving the adrenal medulla NCIT:C4396|UMLS:C0344456|DOID:5719|SNOMEDCT:371965009 http://purl.obolibrary.org/obo/MONDO_0003606 malignant neoplasm of the adrenal medulla|malignant adrenal medulla tumor|adrenal medulla tumor|malignant tumor of adrenal medulla|adrenal medulla neoplasm|malignant neoplasm of adrenal medulla|malignant adrenal medulla neoplasm|cancer of adrenal medulla|malignant tumor of the adrenal medulla|adrenal medulla cancer gard_rare HGNC:7155 MMP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7155 MONDO:0003607 neuritis of upper limb biolink:Disease mondo DOID:572|ICD9:354 A neuritis that involves the forelimb. DOID:572 http://purl.obolibrary.org/obo/MONDO_0003607 neuritis of forelimb|forelimb neuritis MONDO:0003608 optic atrophy biolink:Disease mondo SCTID:76976005|UMLS:C1744705|OMIMPS:165500|ICD9:377.1|MESH:D009896|ICD9:377.10|UMLS:C0029124|DOID:5723|ICD10:H47.2|ICD10:H47.20|NCIT:C34863|COHD:372914 A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances. UMLS:C0029124|UMLS:C1744705|MESH:D009896|DOID:5723|NCIT:C34863|SNOMEDCT:76976005 http://purl.obolibrary.org/obo/MONDO_0003608 atrophy of optic disc GO:0035306 positive regulation of dephosphorylation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule. http://purl.obolibrary.org/obo/GO_0035306 up-regulation of dephosphorylation|up regulation of dephosphorylation|activation of dephosphorylation|stimulation of dephosphorylation|upregulation of dephosphorylation GO:1900077 negative regulation of cellular response to insulin stimulus biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus. http://purl.obolibrary.org/obo/GO_1900077 down regulation of cellular response to insulin stimulus|downregulation of cellular response to insulin stimulus|inhibition of cellular response to insulin stimulus|down-regulation of cellular response to insulin stimulus GO:1900076 regulation of cellular response to insulin stimulus biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus. http://purl.obolibrary.org/obo/GO_1900076 GO:1900078 positive regulation of cellular response to insulin stimulus biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus. http://purl.obolibrary.org/obo/GO_1900078 up-regulation of cellular response to insulin stimulus|up regulation of cellular response to insulin stimulus|activation of cellular response to insulin stimulus|upregulation of cellular response to insulin stimulus HP:0010606 Hordeolum biolink:PhenotypicFeature mondo SNOMEDCT_US:397513003|UMLS:C4280376|MSH:D006726|UMLS:C0019917|SNOMEDCT_US:1489008 An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. http://purl.obolibrary.org/obo/HP_0010606 Stye of eyelid|Red bump on eyelid GO:0035303 regulation of dephosphorylation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule. http://purl.obolibrary.org/obo/GO_0035303 GO:0035305 negative regulation of dephosphorylation biolink:OntologyClass mondo Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule. http://purl.obolibrary.org/obo/GO_0035305 down regulation of dephosphorylation|downregulation of dephosphorylation|inhibition of dephosphorylation|down-regulation of dephosphorylation ENVO:01000820 pedosphere biolink:OntologyClass mondo An astronomical body part which is composed of soil, subject to soil formation processes, and found on the surface of a lithosphere. http://purl.obolibrary.org/obo/ENVO_01000820 NCBITaxon:1897064 Cryptococcus neoformans species complex organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1897064 CHEBI:49475 argon atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_49475 Ar|argon|18Ar|argon HGNC:9701 PURA biolink:OntologyClass mondo http://identifiers.org/hgnc/9701 HGNC:9706 NECTIN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9706 UBERON:0002827 vestibulocochlear ganglion biolink:AnatomicalEntity mondo the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia http://purl.obolibrary.org/obo/UBERON_0002827 statoacoustic (VIII) ganglion|statoacoustic ganglia|auditory ganglion|acoustico-vestibular VIII ganglion|SAG|gVIII|nucleus nervi oculomotorii ventrolateralis|acoustic ganglion VIII|acoustic ganglion|vestibulocochlear VIII ganglion|vestibulocochlear ganglia|statoacoustic VIII ganglion|auditory ganglion|ganglion VIII|nucleus nervi oculomotorii, pars ventralis|statoacoustic ganglion UBERON:0002824 vestibular ganglion biolink:AnatomicalEntity mondo The ganglion of the vestibular nerve. It contains the cell bodies of the bipolar primary afferent neurons whose peripheral processes form synaptic contact with hair cells of the vestibular sensory end organs[WP,unvetted]. Distributed to the maculae of the utricle and saccule and to the ampullary crests of the semicircular ducts. The vestibular fibers arise in bipolar cells in the vestibular ganglion in the internal acoustic meatus. http://purl.obolibrary.org/obo/UBERON_0002824 vestibulocochlear VIII ganglion vestibular component|nucleus nervi oculomotorii, pars medialis|vestibulocochlear ganglion vestibular component|Scarpa's ganglion|vestibular part of vestibulocochlear ganglion HGNC:9713 PEX19 biolink:OntologyClass mondo http://identifiers.org/hgnc/9713 HGNC:9717 PEX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9717 UBERON:0002812 left cerebral hemisphere biolink:AnatomicalEntity mondo A cerebral hemisphere that is in the left side of a brain. http://purl.obolibrary.org/obo/UBERON_0002812 left hemisphere UBERON:0002811 left frontal lobe biolink:AnatomicalEntity mondo A frontal cortex that is part of a left cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0002811 UBERON:0002813 right cerebral hemisphere biolink:AnatomicalEntity mondo A cerebral hemisphere that is in the right side of a brain. http://purl.obolibrary.org/obo/UBERON_0002813 right hemisphere ENVO:01000817 biosphere biolink:OntologyClass mondo A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. http://purl.obolibrary.org/obo/ENVO_01000817 ENVO:01000818 cryosphere biolink:OntologyClass mondo A cryosphere is that part of a planet which is primarily composed of water is in solid form. http://purl.obolibrary.org/obo/ENVO_01000818 HGNC:9719 PEX5 biolink:OntologyClass mondo http://identifiers.org/hgnc/9719 ENVO:01000819 hydrosphere biolink:OntologyClass mondo An astronomical body part which is composed of the combined mass of water found on, under, and over the surface of a planet. http://purl.obolibrary.org/obo/ENVO_01000819 ENVO:01000813 astronomical body part biolink:OntologyClass mondo A material part of an astronomical body. http://purl.obolibrary.org/obo/ENVO_01000813 ENVO:01000814 solid environmental material biolink:OntologyClass mondo An environmental material which is in a solid state. http://purl.obolibrary.org/obo/ENVO_01000814 ENVO:01000815 liquid environmental material biolink:OntologyClass mondo An environmental material which is in a liquid state. http://purl.obolibrary.org/obo/ENVO_01000815 HGNC:9725 PYGL biolink:OntologyClass mondo http://identifiers.org/hgnc/9725 HGNC:9722 ALDH18A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9722 HGNC:9726 PYGM biolink:OntologyClass mondo http://identifiers.org/hgnc/9726 HP:0010622 Neoplasm of the skeletal system biolink:PhenotypicFeature mondo NCIT:C3262|UMLS:C2732838|UMLS:C4020771|SNOMEDCT_US:442868003 A tumor (abnormal growth of tissue) of the skeleton. http://purl.obolibrary.org/obo/HP_0010622 Neoplasia of the skeletal system|Skeletal tumor|Bone neoplasm GO:0001959 regulation of cytokine-mediated signaling pathway biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the cytokine mediated signaling pathway. http://purl.obolibrary.org/obo/GO_0001959 regulation of cytokine mediated signalling pathway|regulation of cytokine and chemokine mediated signaling pathway|regulation of cytokine mediated signaling pathway HGNC:9721 PYCR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9721 UBERON:0002805 right limbic lobe biolink:AnatomicalEntity mondo A limbic lobe that is part of a right cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0002805 GO:0001961 positive regulation of cytokine-mediated signaling pathway biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway. http://purl.obolibrary.org/obo/GO_0001961 positive regulation of cytokine mediated signalling pathway|up-regulation of cytokine mediated signaling pathway|positive regulation of cytokine and chemokine mediated signaling pathway|up regulation of cytokine mediated signaling pathway|activation of cytokine mediated signaling pathway|positive regulation of cytokine mediated signaling pathway|stimulation of cytokine mediated signaling pathway|upregulation of cytokine mediated signaling pathway UBERON:0002804 left limbic lobe biolink:AnatomicalEntity mondo A limbic lobe that is part of a left cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0002804 ENVO:01000800 planet biolink:OntologyClass mondo A planet is an astronomical body orbiting a star or stellar remnant that is massive enough to be rounded by its own gravity, is not massive enough to cause thermonuclear fusion, and has cleared its neighbouring region of planetesimals. http://purl.obolibrary.org/obo/ENVO_01000800 UBERON:0002807 right occipital lobe biolink:AnatomicalEntity mondo An occipital lobe that is part of a right cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0002807 UBERON:0002806 left occipital lobe biolink:AnatomicalEntity mondo An occipital lobe that is part of a left cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0002806 GO:0001964 startle response biolink:OntologyClass mondo An action or movement due to the application of a sudden unexpected stimulus. http://purl.obolibrary.org/obo/GO_0001964 ENVO:01000801 star biolink:OntologyClass mondo An astronomical object which is composed primarily of luminous plasma held in a spherical form by gravitational forces. http://purl.obolibrary.org/obo/ENVO_01000801 CHEBI:50427 platelet aggregation inhibitor biolink:ChemicalSubstance mondo A drug or agent which antagonizes or impairs any mechanism leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system. http://purl.obolibrary.org/obo/CHEBI_50427 platelet aggregation inhibitors UBERON:0002803 right parietal lobe biolink:AnatomicalEntity mondo Parietal lobe of the right hemisphere of the brain http://purl.obolibrary.org/obo/UBERON_0002803 GO:0001960 negative regulation of cytokine-mediated signaling pathway biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway. http://purl.obolibrary.org/obo/GO_0001960 down regulation of cytokine mediated signaling pathway|inhibition of cytokine mediated signaling pathway|downregulation of cytokine mediated signaling pathway|negative regulation of cytokine and chemokine mediated signaling pathway|negative regulation of cytokine mediated signaling pathway|down-regulation of cytokine mediated signaling pathway|negative regulation of cytokine mediated signalling pathway UBERON:0002802 left parietal lobe biolink:AnatomicalEntity mondo Parietal lobe of the left hemisphere of the brain http://purl.obolibrary.org/obo/UBERON_0002802 UBERON:0002809 right temporal lobe biolink:AnatomicalEntity mondo A temporal lobe that is part of a right cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0002809 UBERON:0002808 left temporal lobe biolink:AnatomicalEntity mondo A temporal lobe that is part of a left cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0002808 ENVO:01000804 astronomical object biolink:OntologyClass mondo An object which is composed of one or more gravitationally bound structures that are associated with a position in space. http://purl.obolibrary.org/obo/ENVO_01000804 celestial object UBERON:0002810 right frontal lobe biolink:AnatomicalEntity mondo A frontal cortex that is part of a right cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0002810 GO:0098840 protein transport along microtubule biolink:OntologyClass mondo The directed movement of a protein along a microtubule, mediated by motor proteins. http://purl.obolibrary.org/obo/GO_0098840 microtubule-based protein transport ENVO:01000798 plasma biolink:OntologyClass mondo A material entity which is composed of a volume of unbound positive and negative particles in roughly equal numbers, conducts electricity, and possesses internal magnetic fields. http://purl.obolibrary.org/obo/ENVO_01000798 ENVO:01000799 astronomical body biolink:OntologyClass mondo An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. http://purl.obolibrary.org/obo/ENVO_01000799 celestial body MONDO:0001089 acute inferolateral myocardial infarction biolink:Disease mondo ICD9:410.22|ICD9:410.21|UMLS:C0340308|ICD9:410.20|DOID:10649|SCTID:65547006 SNOMEDCT:65547006|UMLS:C0340308|DOID:10649 http://purl.obolibrary.org/obo/MONDO_0001089 acute inferolateral myocardial infarction|acute myocardial infarction of inferolateral wall MONDO:0013070 spermatogenic failure 7 biolink:Disease mondo UMLS:C2751811|DOID:0070173|OMIM:612997|MESH:C567832 UMLS:C2751811|DOID:0070173|MESH:C567832|http://identifiers.org/omim/612997 http://purl.obolibrary.org/obo/MONDO_0013070 Male infertility, nonsyndromic, autosomal recessive|spermatogenic failure 7; SPGF7|spermatogenic failure 7|SPGF7|spermatogenic failure type 7 ENVO:01000797 gaseous environmental material biolink:OntologyClass mondo A material entity which is composed of one or more chemical entities and has neither independent shape nor volume but tends to expand indefinitely. http://purl.obolibrary.org/obo/ENVO_01000797 gas MONDO:0001084 primary optic atrophy biolink:Disease mondo ICD10:H47.21|ICD9:377.11|UMLS:C0155291|DOID:10627|SCTID:21098003|COHD:380729 UMLS:C0155291|SNOMEDCT:21098003|DOID:10627 http://purl.obolibrary.org/obo/MONDO_0001084 MONDO:0001083 Fanconi renotubular syndrome biolink:Disease mondo OMIMPS:134600|MESH:D005198|DOID:1062|UMLS:C0015624|DC:0000148|GARD:0009120|SCTID:40488004|NCIT:C3034 A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. SNOMEDCT:40488004|DOID:1062|MESH:D005198|NCIT:C3034|UMLS:C0015624 http://purl.obolibrary.org/obo/MONDO_0001083 toni-debre-Fanconi syndrome|congenital Fanconi syndrome|infantile nephropathic cystinosis|deToni Fanconi syndrome|Fanconi's syndrome|Fanconi-de-toni syndrome|adult Fanconi syndrome|De toni-debre-Fanconi syndrome|Fanconi-de toni syndrome|Fanconi syndrome|De toni-Fanconi syndrome|Lignac-Fanconi syndrome gard_rare MONDO:0001082 lymph node cancer biolink:Disease mondo ICD9:239.89|NCIT:C35812|DOID:10619|SCTID:127232002 A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004 DOID:10619|SNOMEDCT:127232002|NCIT:C35812 http://purl.obolibrary.org/obo/MONDO_0001082 lymph node neoplasm|cancer of lymph node|malignant neoplasm of lymph node|malignant lymph node neoplasm|lymph node cancer MONDO:0001081 acute cervicitis biolink:Disease mondo SCTID:19272000|NCIT:C27056|UMLS:C0269061|DOID:10616 Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation. NCIT:C27056|UMLS:C0269061|SNOMEDCT:19272000|DOID:10616 http://purl.obolibrary.org/obo/MONDO_0001081 cervicitis (disease), acute|acute cervicitis (disease) MONDO:0001088 acute inferoposterior infarction biolink:Disease mondo ICD9:410.32|ICD9:410.31|UMLS:C0340304|SCTID:76593002|ICD9:410.30|DOID:10648 UMLS:C0340304|DOID:10648|SNOMEDCT:76593002 http://purl.obolibrary.org/obo/MONDO_0001088 acute myocardial infarction of inferoposterior wall|acute inferoposterior myocardial infarction|acute inferoposterior infarction GO:1902652 secondary alcohol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving secondary alcohol. http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolism MONDO:0001087 schizotypal personality disorder biolink:Disease mondo DOID:10646|MESH:D012569|SCTID:31027006|ICD9:301.22|COHD:434010|NCIT:C92632|ICD10:F21 A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance. MESH:D012569|NCIT:C92632|DOID:10646|SNOMEDCT:31027006 http://purl.obolibrary.org/obo/MONDO_0001087 GO:1902653 secondary alcohol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of secondary alcohol. http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol synthesis|secondary alcohol formation|secondary alcohol anabolism|secondary alcohol biosynthesis MONDO:0001086 partial optic atrophy biolink:Disease mondo UMLS:C0155295|ICD9:377.15|SCTID:111527005|DOID:10631|COHD:381861 SNOMEDCT:111527005|UMLS:C0155295|DOID:10631 http://purl.obolibrary.org/obo/MONDO_0001086 MONDO:0001085 interstitial nephritis biolink:Disease mondo UMLS:C0041349|SCTID:28689008|DOID:1063|MESH:D009395|NCIT:C26834|UMLS:C0027707|ICD9:583.89|ICD10:N12 Inflammation of the renal tubules and supporting tissues of the kidney. UMLS:C0041349|DOID:1063|NCIT:C26834|UMLS:C0027707|SNOMEDCT:28689008|MESH:D009395 http://purl.obolibrary.org/obo/MONDO_0001085 renal tubulo-interstitial disease|Tubulointerstitial nephritis CL:0002540 mesenchymal stem cell of the bone marrow biolink:Cell mondo A mesenchymal stem cell that is part of the bone marrow. http://purl.obolibrary.org/obo/CL_0002540 MONDO:0013079 primary biliary cholangitis 2 biolink:Disease mondo MESH:C567817|UMLS:C2751696|OMIM:613007 UMLS:C2751696|http://identifiers.org/omim/613007|MESH:C567817 http://purl.obolibrary.org/obo/MONDO_0013079 biliary cirrhosis, primary, 2; PBC2|PBC2|biliary cirrhosis, primary, 2 GO:0060235 lens induction in camera-type eye biolink:OntologyClass mondo Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. http://purl.obolibrary.org/obo/GO_0060235 MONDO:0001080 acute gonococcal cervicitis biolink:Disease mondo UMLS:C0153195|COHD:193136|SCTID:20943002|DOID:10615|ICD9:098.15 Acute form of gonococcal cervicitis. UMLS:C0153195|DOID:10615|SNOMEDCT:20943002 http://purl.obolibrary.org/obo/MONDO_0001080 gonococcal cervicitis, acute|gonococcal cervicitis|acute gonorrhea of cervix|gonococcal cervicitis (acute) CL:0002543 vein endothelial cell biolink:Cell mondo KUPO:0001099|FMA:62104 An endothelial cell that is part of the vein. http://purl.obolibrary.org/obo/CL_0002543 venous endothelial cell|endothelial cell of vein CL:0002546 embryonic blood vessel endothelial progenitor cell biolink:Cell mondo An endothelial progenitor cell that participates in angiogenesis during development. http://purl.obolibrary.org/obo/CL_0002546 MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 biolink:Disease mondo OMIM:613000 Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene. http://identifiers.org/omim/613000 http://purl.obolibrary.org/obo/MONDO_0013073 keratoderma, focal nonepidermolytic palmoplantar|palmoplantar keratoderma, nonepidermolytic, focal 1; FNEPPK1|palmoplantar keratoderma, nonepidermolytic, focal 1|nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16|FNEPPK1|focal nonepidermolytic palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic, focal type 1|KRT16 nonepidermolytic palmoplantar keratoderma|Ppkfne MONDO:0013074 encephalocraniocutaneous lipomatosis biolink:Disease mondo Orphanet:2396|NCIT:C4701|MESH:C535736|ICD9:757.8|GARD:0002108|UMLS:C0406612|SCTID:238905009|OMIM:613001|ICD10:E88.2 A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations. MESH:C535736|NCIT:C4701|http://identifiers.org/omim/613001|ORPHA:2396|UMLS:C0406612|SNOMEDCT:238905009 http://purl.obolibrary.org/obo/MONDO_0013074 encephalocraniocutaneous lipomatosis; ECCL|encephalocraniocutaneous lipomatosis|ECCL|Fishman syndrome|Haberland syndrome gard_rare|ordo_disease MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant biolink:Disease mondo DOID:0070249|OMIM:612998|UMLS:C2751807|MESH:C567831 Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene. UMLS:C2751807|DOID:0070249|MESH:C567831|http://identifiers.org/omim/612998 http://purl.obolibrary.org/obo/MONDO_0013071 EDMD4|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1|Emery-Dreifuss muscular dystrophy 4 with variable features|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy|EMERY-Dreifuss muscular dystrophy 4, autosomal dominant; EDMD4 MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant biolink:Disease mondo DOID:0070250|OMIM:612999|UMLS:C2751805 Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene. UMLS:C2751805|DOID:0070250|http://identifiers.org/omim/612999 http://purl.obolibrary.org/obo/MONDO_0013072 EMERY-Dreifuss muscular dystrophy 5, autosomal dominant; EDMD5|EDMD5|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2|Emery-Dreifuss muscular dystrophy 5, autosomal dominant|SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy MONDO:0013077 Santos syndrome biolink:Disease mondo OMIM:613005|UMLS:C2751698|MESH:C567819 UMLS:C2751698|http://identifiers.org/omim/613005|MESH:C567819 http://purl.obolibrary.org/obo/MONDO_0013077 fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome|Santos syndrome MONDO:0013078 type 1 diabetes mellitus 24 biolink:Disease mondo OMIM:613006|UMLS:C2751697|MESH:C567818|DOID:0110761|ICD10:E10 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31. DOID:0110761|UMLS:C2751697|http://identifiers.org/omim/613006|MESH:C567818 http://purl.obolibrary.org/obo/MONDO_0013078 insulin-dependent diabetes mellitus 24|IDDM24|diabetes mellitus, insulin-dependent, 24; IDDM24|diabetes mellitus, insulin-dependent, 24 MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 biolink:Disease mondo OMIM:613002 http://identifiers.org/omim/613002 http://purl.obolibrary.org/obo/MONDO_0013075 encephalopathy, acute, infection-induced, susceptibility to, 2|Herpes simplex encephalitis, susceptibility to, type 2|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2; IIAE2|herpes simplex encephalitis, susceptibility to, 2|IIAE2 predisposition MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 biolink:Disease mondo OMIM:613003 http://identifiers.org/omim/613003 http://purl.obolibrary.org/obo/MONDO_0013076 susceptibility to attention deficit-hyperactivity disorder 7|attention Deficit-hyperactivity disorder, susceptibility to, type 7|Adhd7|attention deficit-hyperactivity disorder, susceptibility to, 7 predisposition GO:1902669 positive regulation of axon guidance biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of axon guidance. http://purl.obolibrary.org/obo/GO_1902669 activation of axon chemotaxis|activation of axon guidance|upregulation of axon pathfinding|up-regulation of axon growth cone guidance|positive regulation of axon pathfinding|upregulation of axon guidance|up-regulation of axon chemotaxis|up regulation of axon growth cone guidance|up regulation of axon pathfinding|positive regulation of axon growth cone guidance|up regulation of axon chemotaxis|up-regulation of axon pathfinding|positive regulation of axon chemotaxis|activation of axon pathfinding|upregulation of axon growth cone guidance|up-regulation of axon guidance|activation of axon growth cone guidance|up regulation of axon guidance|upregulation of axon chemotaxis MONDO:0001095 mediastinum neuroblastoma biolink:Disease mondo UMLS:C1334673|DOID:10660|EFO:1000367|NCIT:C6628 A neuroblastoma arising from the mediastinum. NCIT:C6628|DOID:10660|UMLS:C1334673 http://purl.obolibrary.org/obo/MONDO_0001095 mediastinum neuroblastoma|neuroblastoma of mediastinum|mediastinal neuroblastoma|neuroblastoma of the mediastinum GO:1902667 regulation of axon guidance biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of axon guidance. http://purl.obolibrary.org/obo/GO_1902667 regulation of axon growth cone guidance|regulation of axon chemotaxis|regulation of axon pathfinding GO:1900004 negative regulation of serine-type endopeptidase activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of serine-type endopeptidase activity. http://purl.obolibrary.org/obo/GO_1900004 down regulation of serine-type endopeptidase activity|negative regulation of blood coagulation factor activity|down regulation of blood coagulation factor activity MONDO:0001094 residual stage of open angle glaucoma biolink:Disease mondo DOID:1066|COHD:437542|ICD9:365.15|SCTID:66990007|ICD10:H40.15|UMLS:C0154944 DOID:1066|SNOMEDCT:66990007|UMLS:C0154944 http://purl.obolibrary.org/obo/MONDO_0001094 open-angle glaucoma residual stage|residual stage of open angle glaucoma GO:1902668 negative regulation of axon guidance biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of axon guidance. http://purl.obolibrary.org/obo/GO_1902668 negative regulation of axon pathfinding|down-regulation of axon pathfinding|downregulation of axon growth cone guidance|down regulation of axon chemotaxis|down-regulation of axon guidance|downregulation of axon chemotaxis|inhibition of axon growth cone guidance|down regulation of axon guidance|downregulation of axon pathfinding|inhibition of axon guidance|down-regulation of axon growth cone guidance|negative regulation of axon growth cone guidance|inhibition of axon chemotaxis|downregulation of axon guidance|down regulation of axon pathfinding|down regulation of axon growth cone guidance|inhibition of axon pathfinding|negative regulation of axon chemotaxis|down-regulation of axon chemotaxis GO:1900003 regulation of serine-type endopeptidase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of serine-type endopeptidase activity. http://purl.obolibrary.org/obo/GO_1900003 regulation of blood coagulation factor activity NCBITaxon:1723728 unclassified Polyomaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1723728 unassigned Polyomaviridae MONDO:0001093 colonic lymphangioma biolink:Disease mondo NCIT:C5500|UMLS:C1333094|DOID:10657 A lymphangioma arising from the colon. NCIT:C5500|DOID:10657|UMLS:C1333094 http://purl.obolibrary.org/obo/MONDO_0001093 colonic lymphangioma|lymphangioma of the colon|lymphangioma of colon|colon lymphangioma GO:1900005 positive regulation of serine-type endopeptidase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of serine-type endopeptidase activity. http://purl.obolibrary.org/obo/GO_1900005 up regulation of blood coagulation factor activity|positive regulation of blood coagulation factor activity|up regulation of serine-type endopeptidase activity MONDO:0001092 colon leiomyoma biolink:Disease mondo UMLS:C1333092|NCIT:C5492|DOID:10656 A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C5492|DOID:10656|UMLS:C1333092 http://purl.obolibrary.org/obo/MONDO_0001092 leiomyoma of the colon|colon leiomyoma|colonic leiomyoma|leiomyoma of colon MONDO:0001099 lactocele biolink:Disease mondo DOID:10686|NCIT:C3515|SCTID:42385006|GARD:0008401|ICD9:611.5|COHD:436167|ICD10:N64.89|MESH:C535998 Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice. SNOMEDCT:42385006|MESH:C535998|DOID:10686|NCIT:C3515 http://purl.obolibrary.org/obo/MONDO_0001099 lacteal cyst|galactocele|Galactocoele MONDO:0001098 separation anxiety disorder biolink:Disease mondo SCTID:11806006|EFO:1001916|DOID:10685|NCIT:C35014|MESH:D001010 An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning. DOID:10685|MESH:D001010|SNOMEDCT:11806006|NCIT:C35014 http://purl.obolibrary.org/obo/MONDO_0001098 MONDO:0001097 obsolete juvenile glaucoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001097 MONDO:0001096 mediastinum ganglioneuroblastoma biolink:Disease mondo UMLS:C1334653|DOID:10661|NCIT:C6627 A ganglioneuroblastoma arising from the mediastinum. NCIT:C6627|DOID:10661|UMLS:C1334653 http://purl.obolibrary.org/obo/MONDO_0001096 ganglioneuroblastoma of mediastinum|ganglioneuroblastoma (disease) of mediastinum|mediastinum ganglioneuroblastoma (disease)|ganglioneuroblastoma of the mediastinum|mediastinal ganglioneuroblastoma MONDO:0040699 necrotizing scleritis biolink:Disease mondo ICD9:379.09|SCTID:95797003 A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern. SNOMEDCT:95797003 http://purl.obolibrary.org/obo/MONDO_0040699 MONDO:0013068 age-related hearing impairment 2 biolink:Disease mondo UMLS:C2751814|OMIM:612976|MESH:C567834 MESH:C567834|http://identifiers.org/omim/612976|UMLS:C2751814 http://purl.obolibrary.org/obo/MONDO_0013068 age-related hearing impairment 2; ARHI2|ARHI2|age-related hearing impairment 2|presbycusis 2 MONDO:0040698 subacute bursitis biolink:Disease mondo SCTID:109298000|UMLS:C1290159 UMLS:C1290159|SNOMEDCT:109298000 http://purl.obolibrary.org/obo/MONDO_0040698 subacute bursitis MONDO:0013069 autosomal recessive optic atrophy, OPA7 type biolink:Disease mondo MESH:C567833|ICD10:H47.2|UMLS:C2751812|OMIM:612989|Orphanet:227976 ORPHA:227976|MESH:C567833|http://identifiers.org/omim/612989|UMLS:C2751812 http://purl.obolibrary.org/obo/MONDO_0013069 optic atrophy 7 with or without auditory neuropathy; OPA7|optic atrophy 7 with or without auditory neuropathy|OPA7 ordo_clinical_subtype MONDO:0001091 lipoma of colon biolink:Disease mondo UMLS:C0940607|NCIT:C5493|DOID:10655 A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction. NCIT:C5493|DOID:10655|UMLS:C0940607 http://purl.obolibrary.org/obo/MONDO_0001091 colon lipoma|lipoma of the colon|lipoma of colon|colonic lipoma GO:2001200 positive regulation of dendritic cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation. http://purl.obolibrary.org/obo/GO_2001200 MONDO:0001090 acute anterolateral myocardial infarction biolink:Disease mondo UMLS:C0155627|DOID:10651|ICD9:410.00|ICD9:410.02|ICD9:410.01|SCTID:70211005|ICD9:410.0 Acute form of anterolateral myocardial infarction. UMLS:C0155627|DOID:10651|SNOMEDCT:70211005 http://purl.obolibrary.org/obo/MONDO_0001090 anterolateral myocardial infarction, acute|acute anterolateral myocardial infarction|acute myocardial infarction of anterolateral wall CL:0002554 fibroblast of lymphatic vessel biolink:Cell mondo A fibroblast of the lymphatic system. http://purl.obolibrary.org/obo/CL_0002554 MONDO:0013062 long QT syndrome 12 biolink:Disease mondo DOID:0110653|UMLS:C2751830|ICD10:I45.8|OMIM:612955|MESH:C567842 Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene. DOID:0110653|UMLS:C2751830|MESH:C567842|http://identifiers.org/omim/612955 http://purl.obolibrary.org/obo/MONDO_0013062 SNTA1 long QT syndrome|long QT syndrome caused by mutation in SNTA1|long QT syndrome type 12|long QT syndrome 12|long QT syndrome 12; LQT12|LQT12 MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 biolink:Disease mondo MESH:C567841|OMIM:612956|UMLS:C2751829 Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene. http://identifiers.org/omim/612956|UMLS:C2751829|MESH:C567841 http://purl.obolibrary.org/obo/MONDO_0013063 VF2|ventricular fibrillation, paroxysmal familial, 2; VF2|ventricular fibrillation, paroxysmal familial, 2|ventricular fibrillation (disease) caused by mutation in DPP6|DPP6 ventricular fibrillation (disease)|ventricular fibrillation, paroxysmal familial, type 2 MONDO:0013060 autosomal recessive Parkinson disease 14 biolink:Disease mondo UMLS:C2751842|GARD:0012568|DOID:0060900|Orphanet:199351|MESH:C567844|ICD10:G24.1|SCTID:720466001|OMIM:612953 Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. ORPHA:199351|UMLS:C2751842|DOID:0060900|SNOMEDCT:720466001|MESH:C567844|http://identifiers.org/omim/612953 http://purl.obolibrary.org/obo/MONDO_0013060 PLA2G6-related dystonia-parkinsonism|autosomal recessive Parkinson's disease 14|PLA2G6 hereditary late onset Parkinson disease|dystonia-Parkinsonism Adult-onset|Parkinson disease 14, autosomal recessive|dystonia-parkinsonism, Paisan-Ruiz type|hereditary late onset Parkinson disease caused by mutation in PLA2G6|PARK14|autosomal recessive Parkinson disease type 14|adult-onset dystonia - parkinsonism|dystonia-Parkinsonism, adult-onset|Parkinson disease 14, autosomal recessive; PARK14 ordo_disease GO:0098857 membrane microdomain biolink:OntologyClass mondo A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. http://purl.obolibrary.org/obo/GO_0098857 MONDO:0013061 myofibrillar myopathy 6 biolink:Disease mondo DOID:0080097|OMIM:612954|ICD10:G71.8|Orphanet:199340|MESH:C567843 Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. ORPHA:199340|DOID:0080097|MESH:C567843|http://identifiers.org/omim/612954 http://purl.obolibrary.org/obo/MONDO_0013061 BAG3 myofibrillar myopathy (disease)|MFM6|myopathy, myofibrillar, Bag3-related|myopathy, myofibrillar, type 6|myopathy, myofibrillar, 6|myofibrillar myopathy type 6|myopathy, myofibrillar, 6; MFM6|muscular dystrophy, Selcen type|myofibrillar myopathy (disease) caused by mutation in BAG3|BAG3-related myofibrillar myopathy ordo_disease MONDO:0013066 46,XY sex reversal 3 biolink:Disease mondo OMIM:612965 http://identifiers.org/omim/612965 http://purl.obolibrary.org/obo/MONDO_0013066 disorder of Sex development, 46,XY, Nr5A1-related|SRXY3|46,XY Sex reversal type 3|46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure|46,XY Sex reversal, partial or complete, Nr5A1-related|Sex reversal, XY, with or without adrenal failure|46,XY sex reversal 3|46,XY SEX reversal 3; SRXY3 MONDO:0013067 cataract 34 multiple types biolink:Disease mondo OMIM:612968|ICD10:Q12.0|UMLS:C2751822|DOID:0110230|MESH:C567835 Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene. MESH:C567835|http://identifiers.org/omim/612968|DOID:0110230|UMLS:C2751822 http://purl.obolibrary.org/obo/MONDO_0013067 autosomal recessive congenital cataract 3|cataract 34, multiple types|cataract 34, multiple types; CTRCT34|CATC3|cataract 34, multiple types, with or without microcornea|cataract 34 multiple types with or without microcornea|cataract, autosomal recessive congenital 3|CTRCT34|cataract (disease) caused by mutation in FOXE3|FOXE3 cataract (disease) GO:0098856 intestinal lipid absorption biolink:OntologyClass mondo Any process in which lipids are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/GO_0098856 MONDO:0013064 multiple synostoses syndrome 3 biolink:Disease mondo OMIM:612961|MESH:C567839|UMLS:C2751826 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene. http://identifiers.org/omim/612961|UMLS:C2751826|MESH:C567839 http://purl.obolibrary.org/obo/MONDO_0013064 FGF9 multiple synostoses syndrome|SYNS3|multiple synostoses syndrome type 3|multiple synostoses syndrome caused by mutation in FGF9|multiple synostoses syndrome 3|multiple synostoses syndrome 3; SYNS3 MONDO:0013065 premature ovarian failure 7 biolink:Disease mondo UMLS:C2751825|MESH:C567838|OMIM:612964 Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene. http://identifiers.org/omim/612964|UMLS:C2751825|MESH:C567838 http://purl.obolibrary.org/obo/MONDO_0013065 Pof7|premature ovarian failure 7|premature ovarian failure type 7|NR5A1 primary ovarian failure|adrenal insufficiency, Nr5A1-related|premature ovarian failure 7; Pof7|primary ovarian failure caused by mutation in NR5A1 MONDO:0001069 obsolete leukodystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001069 MONDO:0001068 osteomalacia (disease) biolink:Disease mondo GARD:0007285|EFO:1002027|SCTID:4598005|HP:0002749|COHD:432594|MESH:D010018|DOID:10573|NCIT:C26838|ICD9:268.2 A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003 SNOMEDCT:4598005|MESH:D010018|NCIT:C26838|DOID:10573 http://purl.obolibrary.org/obo/MONDO_0001068 osteomalacia MONDO:0001067 early yaws biolink:Disease mondo UMLS:C0275998|ICD10:A66.0|ICD9:102.6|DOID:10568|ICD9:102.0|NCIT:C41352|ICD9:102.2|ICD10:A66.6|SCTID:23191004 Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly. UMLS:C0275998|DOID:10568|NCIT:C41352|SNOMEDCT:23191004 http://purl.obolibrary.org/obo/MONDO_0001067 primary frambesia|initial lesions of yaws|initial frambesial ulcer|chancre of yaws|bone and joint yaws lesion|bone and joint lesions due to yaws|frambesia, initial or primary MONDO:0001062 pyloric antrum cancer biolink:Disease mondo SCTID:187740000|DOID:10547|ICD10:C16.3|ICD9:151.2|UMLS:C0153419 A malignant neoplasm involving the pyloric antrum. DOID:10547|UMLS:C0153419|SNOMEDCT:187740000 http://purl.obolibrary.org/obo/MONDO_0001062 pyloric antrum cancer|malignant neoplasm of pyloric antrum|malignant pyloric antrum neoplasm|malignant neoplasm of antrum of stomach NOS|malignant tumor of pyloric antrum|malignant neoplasm of antrum of stomach|cancer of pyloric antrum GO:1900015 regulation of cytokine production involved in inflammatory response biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response. http://purl.obolibrary.org/obo/GO_1900015 regulation of cytokine production involved in acute inflammatory response GO:1902679 negative regulation of RNA biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/GO_1902679 inhibition of RNA biosynthesis|inhibition of RNA biosynthetic process|down-regulation of RNA biosynthetic process|down-regulation of RNA biosynthesis|down regulation of RNA formation|negative regulation of RNA biosynthesis|inhibition of RNA synthesis|downregulation of RNA synthesis|downregulation of RNA formation|inhibition of RNA formation|negative regulation of RNA anabolism|down-regulation of RNA anabolism|downregulation of RNA biosynthetic process|down regulation of RNA anabolism|downregulation of RNA biosynthesis|negative regulation of RNA synthesis|down-regulation of RNA synthesis|down regulation of RNA biosynthesis|negative regulation of RNA formation|down regulation of RNA synthesis|down regulation of RNA biosynthetic process|down-regulation of RNA formation|downregulation of RNA anabolism|inhibition of RNA anabolism MONDO:0001061 pylorus cancer biolink:Disease mondo UMLS:C0153418|SCTID:187736009|ICD10:C16.4|DOID:10544|ICD9:151.1 A malignant neoplasm involving the pylorus. UMLS:C0153418|DOID:10544|SNOMEDCT:187736009 http://purl.obolibrary.org/obo/MONDO_0001061 pylorus cancer|malignant pylorus neoplasm|malignant tumor of pylorus|malignant neoplasm of pylorus|malignant neoplasm of pylorus of stomach|malignant neoplasm of Prepylorus|Ca pylorus - stomach|cancer of pylorus GO:1900017 positive regulation of cytokine production involved in inflammatory response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. http://purl.obolibrary.org/obo/GO_1900017 up regulation of cytokine production involved in inflammatory response|up regulation of cytokine production involved in acute inflammatory response|positive regulation of cytokine production involved in acute inflammatory response MONDO:0001060 microinvasive gastric cancer biolink:Disease mondo DOID:10541|NCIT:C27131|UMLS:C0349530|SCTID:276809004 An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present. SNOMEDCT:276809004|NCIT:C27131|UMLS:C0349530|DOID:10541 http://purl.obolibrary.org/obo/MONDO_0001060 superficial gastric cancer|early gastric cancer|surface gastric cancer|EGC|superficial spreading gastric cancer MONDO:0025030 digital dermatitis in cattle biolink:Disease mondo MESH:D058066 Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease. MESH:D058066 http://purl.obolibrary.org/obo/MONDO_0025030 bovine hairy footwarts|dermatitis, bovine digital|Papillomatoses, digital|wart, bovine foot|digital dermatitis, bovine|digital Dermatitides, bovine|Dermatitides, bovine digital|digital Papillomatoses|bovine digital dermatitis|bovine foot wart|bovine digital Dermatitides|digital Dermatitides, papillomatous|Ovine digital dermatitis|Ovine digital Dermatitides|digital dermatitis, papillomatous|digital papillomatosis|Dermatitides, digital|foot Warts, bovine|dermatitis, digital|hairy footwart, bovine|bovine foot Warts|Warts, bovine foot|bovine hairy footwart|footwart, bovine hairy|papillomatosis, digital|digital Dermatitides|footwarts, bovine hairy|hairy footwarts, bovine|papillomatous digital dermatitis|digital Dermatitides, Ovine|digital dermatitis, Ovine|foot wart, bovine|papillomatous digital Dermatitides GO:1900016 negative regulation of cytokine production involved in inflammatory response biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. http://purl.obolibrary.org/obo/GO_1900016 negative regulation of cytokine production involved in acute inflammatory response|down regulation of cytokine production involved in inflammatory response|down regulation of cytokine production involved in acute inflammatory response MONDO:0001066 late yaws biolink:Disease mondo ICD10:A66.1|ICD9:102.4|DOID:10567|UMLS:C0276007|ICD9:102.1|SCTID:186968004|NCIT:C41354|UMLS:C1517744|ICD10:A66.4 Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints. UMLS:C0276007|SNOMEDCT:186968004|DOID:10567|UMLS:C1517744|NCIT:C41354 http://purl.obolibrary.org/obo/MONDO_0001066 multiple papillomata due to yaws and wet crab yaws|yaws gummata and ulcers|gummata of yaws|ulcers of yaws|gummatous frambeside|gummata and ulcers due to yaws|nodular late yaws MONDO:0001065 supine hypotensive syndrome biolink:Disease mondo HP:0008071|ICD9:669.20|SCTID:88887003|DOID:10556 A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. SNOMEDCT:88887003|DOID:10556 http://purl.obolibrary.org/obo/MONDO_0001065 maternal hypotension syndrome|postpartum maternal hypotension syndrome|antepartum maternal hypotension syndrome MONDO:0001064 acute eustachian salpingitis biolink:Disease mondo ICD9:381.51|ICD10:H68.01|ICD10:H68.019|UMLS:C0155429|SCTID:194268005|DOID:10550 Acute form of otosalpingitis. UMLS:C0155429|DOID:10550|SNOMEDCT:194268005 http://purl.obolibrary.org/obo/MONDO_0001064 acute eustachian tube salpingitis|acute otosalpingitis|otosalpingitis, acute MONDO:0027694 amyotrophic lateral sclerosis type 23 biolink:Disease mondo UMLS:CN778765|OMIM:617839|DOID:0080225 UMLS:CN778765|http://identifiers.org/omim/617839|DOID:0080225 http://purl.obolibrary.org/obo/MONDO_0027694 ALS23|amyotrophic lateral sclerosis 23|amyotrophic lateral sclerosis 23; ALS23 MONDO:0001063 cardia cancer biolink:Disease mondo DOID:10548|SCTID:187732006|ICD10:C16.0|ICD9:151.0|UMLS:C0153417 A malignant neoplasm involving the cardia of stomach. SNOMEDCT:187732006|UMLS:C0153417|DOID:10548 http://purl.obolibrary.org/obo/MONDO_0001063 cardia of stomach cancer|malignant neoplasm of cardia of stomach|malignant cardia of stomach neoplasm|Ca cardia - stomach|cancer of cardia of stomach MONDO:0013059 Aicardi-Goutieres syndrome 5 biolink:Disease mondo OMIM:612952|GARD:0010151|MESH:C535608 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene. http://identifiers.org/omim/612952|MESH:C535608 http://purl.obolibrary.org/obo/MONDO_0013059 AGS5|Aicardi-Goutieres syndrome caused by mutation in SAMHD1|Aicardi-Goutieres syndrome type 5|Aicardi-Goutieres syndrome 5|SAMHD1-related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 5; AGS5|SAMHD1 Aicardi-Goutieres syndrome GO:0060255 regulation of macromolecule metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0060255 MONDO:0013057 PSORS12 biolink:Disease mondo OMIM:612950 http://identifiers.org/omim/612950 http://purl.obolibrary.org/obo/MONDO_0013057 psoriasis 12, susceptibility to|PSORS12|psoriasis 12, susceptibility to; PSORS12 GO:1902680 positive regulation of RNA biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/GO_1902680 up regulation of RNA synthesis|positive regulation of RNA biosynthesis|up-regulation of RNA formation|upregulation of RNA anabolism|positive regulation of RNA synthesis|up regulation of RNA biosynthesis|activation of RNA synthesis|up regulation of RNA biosynthetic process|up regulation of RNA formation|up-regulation of RNA biosynthesis|positive regulation of RNA formation|up-regulation of RNA biosynthetic process|activation of RNA formation|upregulation of RNA synthesis|activation of RNA biosynthetic process|activation of RNA biosynthesis|upregulation of RNA formation|up-regulation of RNA anabolism|upregulation of RNA biosynthesis|up regulation of RNA anabolism|upregulation of RNA biosynthetic process|up-regulation of RNA synthesis|positive regulation of RNA anabolism|activation of RNA anabolism MONDO:0013058 cystic leukoencephalopathy without megalencephaly biolink:Disease mondo OMIM:612951|SCTID:720825005|UMLS:C2751843|ICD10:E75.2|Orphanet:85136|GARD:0013199|MESH:C567845 Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. ORPHA:85136|MESH:C567845|http://identifiers.org/omim/612951|SNOMEDCT:720825005|UMLS:C2751843 http://purl.obolibrary.org/obo/MONDO_0013058 CLWM|leukoencephalopathy, cystic, without megalencephaly|RNAse T2-deficient leukoencephalopathy ordo_disease GO:2001212 regulation of vasculogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of vasculogenesis. http://purl.obolibrary.org/obo/GO_2001212 regulation of vascular morphogenesis GO:0060259 regulation of feeding behavior biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food. http://purl.obolibrary.org/obo/GO_0060259 regulation of feeding behaviour GO:2001213 negative regulation of vasculogenesis biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of vasculogenesis. http://purl.obolibrary.org/obo/GO_2001213 negative regulation of vascular morphogenesis GO:2001214 positive regulation of vasculogenesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of vasculogenesis. http://purl.obolibrary.org/obo/GO_2001214 positive regulation of vascular morphogenesis MONDO:0013051 autosomal recessive cutis laxa type 2B biolink:Disease mondo ICD10:Q82.8|Orphanet:357064|ORDO:357064|GARD:0001641|OMIM:612940|ICD10CM:Q82.8|DOID:0070137|MESH:C567855|UMLS:C2751987 Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. ORPHA:357064|MESH:C567855|http://identifiers.org/omim/612940|UMLS:C2751987|DOID:0070137 http://purl.obolibrary.org/obo/MONDO_0013051 cutis laxa, autosomal recessive, type IIB; ARCL2B|cutis laxa, autosomal recessive, type 2B|autosomal recessive cutis laxa type IIB|PYCR1 autosomal recessive cutis laxa type 2|cutis laxa with progeroid features|cutis laxa, autosomal recessive, type IIB|autosomal recessive cutis laxa type 2, progeroid type|autosomal recessive cutis laxa type 2 caused by mutation in PYCR1|ARCL2, progeroid type|cutis laxa, autosomal recessive type 2B|ARCL2B ordo_disease|gard_rare MONDO:0013052 retinitis pigmentosa 42 biolink:Disease mondo MESH:C567854|OMIM:612943|ICD10:H35.5|UMLS:C2751986|DOID:0110386 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene. MESH:C567854|http://identifiers.org/omim/612943|DOID:0110386|UMLS:C2751986 http://purl.obolibrary.org/obo/MONDO_0013052 KLHL7 retinitis pigmentosa|retinitis pigmentosa caused by mutation in KLHL7|RP42|retinitis pigmentosa 42; RP42|retinitis pigmentosa 42|retinitis pigmentosa type 42 MONDO:0013050 lethal polymalformative syndrome, Boissel type biolink:Disease mondo Orphanet:210144|OMIM:612938|ICD10:Q87.8|MESH:C567856 http://identifiers.org/omim/612938|ORPHA:210144|MESH:C567856 http://purl.obolibrary.org/obo/MONDO_0013050 growth retardation, developmental delay, and facial dysmorphism; GDFD|GDFD|growth retardation, developmental delay, and facial dysmorphism ordo_malformation_syndrome MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features biolink:Disease mondo GARD:0010683|OMIM:612948|MESH:C548086|UMLS:C2751864 http://identifiers.org/omim/612948|MESH:C548086|UMLS:C2751864 http://purl.obolibrary.org/obo/MONDO_0013055 Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features gard_rare MONDO:0013056 developmental and epileptic encephalopathy, 39 biolink:Disease mondo ICD10:G31.8|UMLS:C4512050|ORDO:353217|OMIM:612949|DOID:0080349|UMLS:C2751855|SCTID:726702005|Orphanet:353217|MESH:C567847 Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. DOID:0080349|MESH:C567847|http://identifiers.org/omim/612949|SNOMEDCT:726702005|UMLS:C4512050|UMLS:C2751855|ORPHA:353217 http://purl.obolibrary.org/obo/MONDO_0013056 DEE39|EIEE39|mitochondrial aspartate-glutamate carrier 1 deficiency|aspartate-glutamate carrier 1 deficiency|AGC1 deficiency|SLC25A12 early infantile epileptic encephalopathy|hypomyelination, global cerebral|epileptic encephalopathy, early infantile, 39|epileptic encephalopathy, early infantile, 39; EIEE39|epileptic encephalopathy with global cerebral demyelination|early infantile epileptic encephalopathy caused by mutation in SLC25A12 ordo_disease MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type biolink:Disease mondo SCTID:719395001|MESH:C567850|Orphanet:217026|OMIM:612946|UMLS:C2751878|ICD10:Q87.8 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. MESH:C567850|SNOMEDCT:719395001|http://identifiers.org/omim/612946|UMLS:C2751878|ORPHA:217026 http://purl.obolibrary.org/obo/MONDO_0013053 microcephaly-faciocardioskeletal syndrome|Hadziselimovic syndrome ordo_malformation_syndrome MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance biolink:Disease mondo UMLS:C2751870|OMIM:612947|MESH:C567849 MESH:C567849|http://identifiers.org/omim/612947|UMLS:C2751870 http://purl.obolibrary.org/obo/MONDO_0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance MONDO:0001079 pancreatic steatorrhea biolink:Disease mondo SCTID:54576000|ICD10:K90.3|COHD:200146|DOID:10610|UMLS:C0152166|ICD9:579.4 SNOMEDCT:54576000|UMLS:C0152166|DOID:10610 http://purl.obolibrary.org/obo/MONDO_0001079 pancreatic steatorrhoea MONDO:0025028 vesicular stomatitis biolink:Disease mondo SCTID:36921006|MESH:D054243|UMLS:C0266999 A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness. MESH:D054243|UMLS:C0266999|SNOMEDCT:36921006 http://purl.obolibrary.org/obo/MONDO_0025028 vesicular Stomatitides|Stomatitides, vesicular|stomatitis, vesicular MONDO:0001078 tropical sprue biolink:Disease mondo GARD:0007824|ICD9:579.1|ICD10:K90.1|UMLS:C0038054|SCTID:47384003|COHD:193521|DOID:10607|NCIT:C45428|MESH:D013182 A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common. MESH:D013182|NCIT:C45428|DOID:10607|SNOMEDCT:47384003|UMLS:C0038054 http://purl.obolibrary.org/obo/MONDO_0001078 tropical steatorrhea|idiopathic tropical malabsorption syndrome|sprue - tropical|tropical enteropathy|post-infective tropical malabsorption gard_rare MONDO:0001073 idiopathic progressive polyneuropathy biolink:Disease mondo SCTID:33209009|COHD:380394|ICD9:356.4|UMLS:C0154756|DOID:10593 UMLS:C0154756|DOID:10593|SNOMEDCT:33209009 http://purl.obolibrary.org/obo/MONDO_0001073 GO:2001226 negative regulation of chloride transport biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of chloride transport. http://purl.obolibrary.org/obo/GO_2001226 MONDO:0001072 mild pre-eclampsia biolink:Disease mondo ICD9:642.44|ICD9:642.43|ICD9:642.42|COHD:314090|ICD9:642.41|ICD9:642.40|SCTID:41114007|DOID:10590 A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. SNOMEDCT:41114007|DOID:10590 http://purl.obolibrary.org/obo/MONDO_0001072 MONDO:0001071 intellectual disability biolink:Disease mondo EFO:0003847|MESH:D008607|SCTID:91138005|GARD:0011963|ICD10:F70.F79|DOID:1059|ICD9:319|NCIT:C97250 A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. MESH:D008607|DOID:1059|NCIT:C97250|SNOMEDCT:91138005 http://purl.obolibrary.org/obo/MONDO_0001071 mental retardation|intellectual disabilities MONDO:0001070 obsolete adrenoleukodystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001070 MONDO:0001077 obsolete short bowel syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001077 MONDO:0001076 glucose intolerance biolink:Disease mondo ICD9:271.3|DOID:10603|NCIT:C34646|UMLS:C0271650|SCTID:267426009|ICD10:R73.09|MESH:D018149 The inability to regulate blood glucose levels resulting in hyperglycemia. NCIT:C34646|MESH:D018149|SNOMEDCT:267426009|DOID:10603|UMLS:C0271650 http://purl.obolibrary.org/obo/MONDO_0001076 glucose: intolerance|glucose: malabsorption|malabsorption of glucose|glucose: [intolerance] or [malabsorption] MONDO:0001075 steatorrhea (disease) biolink:Disease mondo DOID:10602|MESH:D045602|NCIT:C86917|SCTID:27868004|HP:0002570 A finding of an excessive amount of fat in the stool. SNOMEDCT:27868004|NCIT:C86917|DOID:10602|MESH:D045602 http://purl.obolibrary.org/obo/MONDO_0001075 fatty stool (finding)|fatty stool|steatorrhea MONDO:0001074 chronic tic disorder biolink:Disease mondo ICD10:F95.1|ICD9:307.22|DOID:10600|NCIT:C116768 A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause. NCIT:C116768|DOID:10600 http://purl.obolibrary.org/obo/MONDO_0001074 chronic motor or vocal tic disorder|tic disorder, chronic MONDO:0013048 hereditary spastic paraplegia 50 biolink:Disease mondo MESH:C567858|DOID:0110802|OMIM:612936|UMLS:C2752008 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene. MESH:C567858|http://identifiers.org/omim/612936|UMLS:C2752008|DOID:0110802 http://purl.obolibrary.org/obo/MONDO_0013048 hereditary spastic paraplegia type 50|cerebral palsy, spastic quadriplegic, 3, formerly|SPG50|AP4M1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 3|spastic paraplegia 50, autosomal recessive|autosomal recessive spastic paraplegia 50|hereditary spastic paraplegia caused by mutation in AP4M1|CPSQ3|spastic quadriplegic cerebral palsy 3|spastic paraplegia 50, autosomal recessive; SPG50 MONDO:0013049 DPM3-CDG biolink:Disease mondo GARD:0012395|MESH:C567857|ICD10:E77.8|UMLS:C2752007|Orphanet:263494|OMIM:612937|SCTID:725044000 DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy. MESH:C567857|UMLS:C2752007|http://identifiers.org/omim/612937|SNOMEDCT:725044000|ORPHA:263494 http://purl.obolibrary.org/obo/MONDO_0013049 DPM3-CDG (CDG-Io)|DG1O|CDG syndrome type Io|congenital disorder of glycosylation type Io|congenital disorder of glycosylation, type Io; CDG1O|CDG Io|congenital disorder of glycosylation type 1o|CDG-Io|carbohydrate deficient glycoprotein syndrome type Io|CDGIo|Cdg1(Dpm3)|CDG1O|congenital disorder of glycosylation, type Io ordo_disease MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency biolink:Disease mondo UMLS:C2752027|ICD10:E74.0|MESH:C567861|Orphanet:99849|GARD:0002125|OMIM:612932 Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. MESH:C567861|ORPHA:99849|http://identifiers.org/omim/612932|UMLS:C2752027 http://purl.obolibrary.org/obo/MONDO_0013046 GSD13|muscular enolase deficiency|GSD due to muscle beta-enolase deficiency|muscle enolase deficiency|glycogen storage disease XIII; GSD13|GSD 13|glycogenosis type 13|glycogen storage disease 13|enolase 3 deficiency|enolase-Beta deficiency|GSDXIII|glycogen storage disease type 13|glycogenosis due to muscle beta-enolase deficiency|glycogen storage disease XIII ordo_disease MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency biolink:Disease mondo GARD:0003160|HGNC:6535|Orphanet:284426|ICD10:E74.0|OMIM:612933|SCTID:237982007|MESH:C538133|ICD9:271.8 A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern. MESH:C538133|SNOMEDCT:237982007|ORPHA:284426|http://identifiers.org/omim/612933 http://purl.obolibrary.org/obo/MONDO_0013047 lactate dehydrogenase deficiency type A|glycogenosis due to lactate dehydrogenase M-subunit deficiency|lactate dehydrogenase A deficiency|glycogen storage disease XI; GSD11|LDHA glycogen storage disease|glycogen storage disease caused by mutation in LDHA|GSD11|GSD 11|glycogenosis type 11|GSD due to lactate dehydrogenase M-subunit deficiency|glycogen storage disease XI|glycogen storage disease type 11|LDH-M subunit deficiency|GSD type 11|GSD XI gard_rare|ordo_clinical_subtype GO:0035235 ionotropic glutamate receptor signaling pathway biolink:OntologyClass mondo A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex. Ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0035235 ionotropic glutamate receptor signalling pathway GO:2001222 regulation of neuron migration biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of neuron migration. http://purl.obolibrary.org/obo/GO_2001222 regulation of neuronal migration|regulation of neuron guidance|regulation of neuron chemotaxis GO:2001223 negative regulation of neuron migration biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of neuron migration. http://purl.obolibrary.org/obo/GO_2001223 negative regulation of neuron chemotaxis|negative regulation of neuron guidance|negative regulation of neuronal migration GO:2001224 positive regulation of neuron migration biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of neuron migration. http://purl.obolibrary.org/obo/GO_2001224 positive regulation of neuron guidance|positive regulation of neuron chemotaxis|positive regulation of neuronal migration GO:0060249 anatomical structure homeostasis biolink:OntologyClass mondo A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/GO_0060249 anatomical structure maintenance GO:0035239 tube morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/GO_0035239 GO:2001225 regulation of chloride transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of chloride transport. http://purl.obolibrary.org/obo/GO_2001225 MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly biolink:Disease mondo ICD10:D58.8|OMIM:612922|Orphanet:93576 http://identifiers.org/omim/612922|ORPHA:93576 http://purl.obolibrary.org/obo/MONDO_0013040 hemolytic uremic syndrome, atypical, susceptibility to, 2; AHUS2|hemolytic uremic syndrome, atypical, susceptibility to, type 2|D-HUS with MCP/CD46 anomaly|AHUS, susceptibility to, 2|aHUS2|hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly|susceptibility to atypical hemolytic uremic syndrome 2|hemolytic uremic syndrome, atypical, susceptibility to, 2|aHUS with MCP/CD46 anomaly|atypical HUS with MCP/CD46 anomaly predisposition|ordo_etiological_subtype MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly biolink:Disease mondo Orphanet:93580|OMIM:612923|ICD10:D58.8 http://identifiers.org/omim/612923|ORPHA:93580 http://purl.obolibrary.org/obo/MONDO_0013041 D-HUS with I factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 3; AHUS3|hemolytic uremic syndrome, atypical, susceptibility to, type 3|hemolytic-uremic syndrome without diarrhea with I factor anomaly|atypical HUS with I factor anomaly|aHUS3|aHUS with I factor anomaly|aHUS, susceptibility to, 3|susceptibility to atypical hemolytic uremic syndrome 3|hemolytic uremic syndrome, atypical, susceptibility to, 3 predisposition|ordo_etiological_subtype MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly biolink:Disease mondo OMIM:612926|ICD10:D58.8|Orphanet:217023 http://identifiers.org/omim/612926|ORPHA:217023 http://purl.obolibrary.org/obo/MONDO_0013044 hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly|AHUS6|hemolytic uremic syndrome, atypical, susceptibility to, type 6|hemolytic uremic syndrome, atypical, susceptibility to, 6; AHUS6|atypical HUS with thrombomodulin anomaly|aHUS with thrombomodulin anomaly|Ahus, susceptibility to, 6|susceptibility to atypical hemolytic uremic syndrome 6|hemolytic uremic syndrome, atypical, susceptibility to, 6|D-HUS with thrombomodulin anomaly predisposition|ordo_etiological_subtype MONDO:0013045 mycobacterium tuberculosis, susceptibility to, 3 biolink:Disease mondo OMIM:612929 http://identifiers.org/omim/612929 http://purl.obolibrary.org/obo/MONDO_0013045 Mycobacterium tuberculosis, susceptibility to, type 3|mycobacterium tuberculosis, susceptibility to, 3|MTBS3 predisposition MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly biolink:Disease mondo ICD10:D58.8|OMIM:612924|Orphanet:93578 http://identifiers.org/omim/612924|ORPHA:93578 http://purl.obolibrary.org/obo/MONDO_0013042 D-HUS with B factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 4|hemolytic uremic syndrome, atypical, susceptibility to, 4; AHUS4|hemolytic-uremic syndrome without diarrhea with B factor anomaly|aHUS, susceptibility to, 4|aHUS4|atypical HUS with B factor anomaly|susceptibility to atypical hemolytic uremic syndrome 4|aHUS with B factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 4 predisposition|ordo_etiological_subtype MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly biolink:Disease mondo ICD10:D58.8|Orphanet:93575|OMIM:612925 http://identifiers.org/omim/612925|ORPHA:93575 http://purl.obolibrary.org/obo/MONDO_0013043 hemolytic-uremic syndrome without diarrhea with C3 anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 5|hemolytic uremic syndrome, atypical, susceptibility to, 5; AHUS5|aHUS with C3 anomaly|atypical HUS with C3 anomaly|AHUS5|Ahus, susceptibility to, 5|susceptibility to atypical hemolytic uremic syndrome 5|hemolytic uremic syndrome, atypical, susceptibility to, 5|D-HUS with C3 anomaly predisposition|ordo_etiological_subtype UBERON:0036291 myocardium of anterior wall of right ventricle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036291 ENVO:01000755 aeroform biolink:OntologyClass mondo A part of an astronomical body which is primarily composed of a continuous volume of gaseous or aerosolised material held in shape by one or more environmental processes. http://purl.obolibrary.org/obo/ENVO_01000755 UBERON:0036290 myocardium of anterior wall of left ventricle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036290 UBERON:0036295 renal pelvis/ureter biolink:AnatomicalEntity mondo The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis and ureter|renal pelvis plus ureter UBERON:0036294 mucosa of lip biolink:AnatomicalEntity mondo A mucosa that is part of a lip region [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0036294 labial mucosa ENVO:01000752 area of barren land biolink:OntologyClass mondo An area of a planet's surface which is primarily composed of bedrock, desert pavement, scarp rock, talus, material exposed by slides, volcanic material, glacial debris, sand, material exposed during strip mining, gravel, and other accumulations of earthen material in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. http://purl.obolibrary.org/obo/ENVO_01000752 GO:0047291 lactosylceramide alpha-2,3-sialyltransferase activity biolink:OntologyClass mondo Catalysis of the reaction: cytolipin-H + CMP-N-acetylneuraminate = alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + CMP. Alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide is also known as GM3. http://purl.obolibrary.org/obo/GO_0047291 GM3 synthetase activity|CMP-N-acetylneuraminate:lactosylceramide alpha-2,3-N-acetylneuraminyltransferase activity|CMP-sialic acid:lactosylceramide-sialyltransferase activity|cytidine monophosphoacetylneuraminate-lactosylceramide sialyltransferase|ganglioside GM3 synthase activity|cytidine monophosphoacetylneuraminate-lactosylceramide alpha2,3- sialyltransferase activity|ganglioside GM3 synthetase activity|CMP-acetylneuraminic acid:lactosylceramide sialyltransferase activity|SAT 1|CMP-acetylneuraminate-lactosylceramide-sialyltransferase|GM3 synthase activity GO:0035229 positive regulation of glutamate-cysteine ligase activity biolink:OntologyClass mondo Any process that activates or increases the activity of glutamate-cysteine ligase, typically by lowering its sensitivity to inhibition by glutathione and by increasing its affinity for glutamate. http://purl.obolibrary.org/obo/GO_0035229 upregulation of glutamate-cysteine ligase activity|up regulation of glutamate-cysteine ligase activity|stimulation of glutamate-cysteine ligase activity|up-regulation of glutamate-cysteine ligase activity|activation of glutamate-cysteine ligase activity MONDO:0025095 malaria, avian biolink:Disease mondo UMLS:C0024533|MESH:D008289 Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria. MESH:D008289|UMLS:C0024533 http://purl.obolibrary.org/obo/MONDO_0025095 Malarias, Avian|Avian malaria|Avian Malarias MONDO:0025096 malignant catarrh biolink:Disease mondo SCTID:24043009|MESH:D008304|UMLS:C0276241 A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte. SNOMEDCT:24043009|MESH:D008304|UMLS:C0276241 http://purl.obolibrary.org/obo/MONDO_0025096 fever, malignant catarrhal|catarrhal fever, malignant|catarrh, malignant|malignant catarrhal fever|malignant catarrhal fevers|malignant Catarrhs|Catarrhs, malignant|fevers, malignant catarrhal|catarrhal fevers, malignant GO:0060271 cilium assembly biolink:OntologyClass mondo The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/GO_0060271 cilium morphogenesis|cilium organization|cilium biogenesis|microtubule-based flagellum assembly|cilium formation|ciliogenesis|cilium assembly CL:0002507 langerin-positive lymph node dendritic cell biolink:Cell mondo A dermal dendritic cell isolated from skin draining lymph nodes that is langerin-positive, MHC-II-positive, and CD4-negative and CD8a-negative. http://purl.obolibrary.org/obo/CL_0002507 GO:0035227 regulation of glutamate-cysteine ligase activity biolink:OntologyClass mondo Any process that modulates the activity of glutamate-cysteine ligase. http://purl.obolibrary.org/obo/GO_0035227 GO:0035228 negative regulation of glutamate-cysteine ligase activity biolink:OntologyClass mondo Any process that stops or reduces the activity of the enzyme glutamate-cysteine ligase. http://purl.obolibrary.org/obo/GO_0035228 inhibition of glutamate-cysteine ligase activity|down-regulation of glutamate-cysteine ligase activity|downregulation of glutamate-cysteine ligase activity|down regulation of glutamate-cysteine ligase activity MONDO:0037002 benign phyllodes tumor biolink:Disease mondo NCIT:C4274|ICDO:9020/0 A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features. NCIT:C4274 http://purl.obolibrary.org/obo/MONDO_0037002 benign phyllodes tumor|phyllodes tumor, benign|benign phyllodes neoplasm|benign cystosarcoma phyllodes MONDO:0037003 malignant phyllodes tumor biolink:Disease mondo NCIT:C4275|ICDO:9020/3 A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases. NCIT:C4275 http://purl.obolibrary.org/obo/MONDO_0037003 phyllodes tumor, malignant|malignant phyllodes neoplasm|malignant phyllodes tumor|malignant cystosarcoma phyllodes GO:1900048 positive regulation of hemostasis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of hemostasis. http://purl.obolibrary.org/obo/GO_1900048 up-regulation of hemostasis|activation of hemostasis|upregulation of hemostasis|up regulation of hemostasis GO:1900047 negative regulation of hemostasis biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of hemostasis. http://purl.obolibrary.org/obo/GO_1900047 downregulation of hemostasis|down regulation of hemostasis|inhibition of hemostasis|down-regulation of hemostasis MONDO:0025086 hip dysplasia, canine biolink:Disease mondo MESH:D006619|UMLS:C0019556 A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age. MESH:D006619|UMLS:C0019556 http://purl.obolibrary.org/obo/MONDO_0025086 dysplasia, canine hip|canine hip dysplasia MONDO:0025085 hepatitis, viral, animal biolink:Disease mondo MESH:D006524 Inflammation of the liver in animals due to viral infection. MESH:D006524 http://purl.obolibrary.org/obo/MONDO_0025085 MONDO:0025087 classical swine fever biolink:Disease mondo MESH:D006691|UMLS:C0019841 An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality. MESH:D006691|UMLS:C0019841 http://purl.obolibrary.org/obo/MONDO_0025087 cholera, Hog|swine fever, classical|Hog cholera|swine fever GO:1900046 regulation of hemostasis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of hemostasis. http://purl.obolibrary.org/obo/GO_1900046 MONDO:0025089 infectious bovine rhinotracheitis biolink:Disease mondo MESH:D007241|UMLS:C0021334 A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract. UMLS:C0021334|MESH:D007241 http://purl.obolibrary.org/obo/MONDO_0025089 bovine Rhinotracheitis, infectious|bovine Rhinotracheitides, infectious|Rhinotracheitides, infectious bovine|Rhinotracheitis, infectious bovine|infectious bovine Rhinotracheitides MONDO:0040654 autosomal dominant oculocutaneous albinism biolink:Disease mondo SCTID:79417003 Autosomal dominant form of oculocutaneous albinism. SNOMEDCT:79417003 http://purl.obolibrary.org/obo/MONDO_0040654 oculocutaneous albinism, autosomal dominant|autosomal dominant oculocutaneous albinism MONDO:0040653 autosomal recessive ocular albinism biolink:Disease mondo SCTID:78921008 Autosomal recessive form of ocular albinism (disease). SNOMEDCT:78921008 http://purl.obolibrary.org/obo/MONDO_0040653 AROA|autosomal recessive ocular albinism|ocular albinism (disease), autosomal recessive|autosomal recessive ocular albinism (disease) MONDO:0025082 helminthiasis, animal biolink:Disease mondo MESH:D006374|UMLS:C0018891 Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary. UMLS:C0018891|MESH:D006374 http://purl.obolibrary.org/obo/MONDO_0025082 animal helminthiasis|Helminthiases, animal|animal Helminthiases NCBITaxon:35500 Pecora organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_35500 MONDO:0013091 glycogen storage disease IXc biolink:Disease mondo OMIM:613027|DOID:0111043|UMLS:C2751643|MESH:C567809 A liver PhK deficiency caused by variants in the PHKG2 gene http://identifiers.org/omim/613027|MESH:C567809|DOID:0111043|UMLS:C2751643 http://purl.obolibrary.org/obo/MONDO_0013091 PHKG2-related glycogen storage disease type IX|PHKG2 glycogen storage disease|GSD type 9C|GSD IXc|GSD type IXc|glycogen storage disease type 9C|glycogen storage disease IXc|glycogen storage disease type IXc|glycogen storage disease caused by mutation in PHKG2|GSD9C|glycogen storage disease IXc; GSD9C|glycogenosis type 9C MONDO:0013092 glioma susceptibility 2 biolink:Disease mondo OMIM:613028 Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene. http://identifiers.org/omim/613028 http://purl.obolibrary.org/obo/MONDO_0013092 malignant glioma caused by mutation in PTEN|glioma susceptibility 2|glioma susceptibility 2; GLM2|GLM2|PTEN malignant glioma|glioma susceptibility type 2 predisposition MONDO:0013090 chromosome 19q13.11 deletion syndrome biolink:Disease mondo DOID:0060408|UMLS:C4304577|SCTID:719599008|OMIM:613026|MESH:C567810|Orphanet:217346|UMLS:C2751651|GARD:0010592|ICD10:Q93.5 The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. http://identifiers.org/omim/613026|MESH:C567810|UMLS:C4304577|SNOMEDCT:719599008|UMLS:C2751651|DOID:0060408|ORPHA:217346 http://purl.obolibrary.org/obo/MONDO_0013090 monosomy 19q13.11|19q13.11 microdeletion syndrome|chromosome 19Q13.11 deletion syndrome, distal|chromosome 19q13.11 deletion syndrome, distal|Del(19)(q13.11)|chromosome 19q13.11 deletion syndrome gard_rare|ordo_malformation_syndrome GO:0060294 cilium movement involved in cell motility biolink:OntologyClass mondo Movement of cilia mediated by motor proteins that contributes to the movement of a cell. http://purl.obolibrary.org/obo/GO_0060294 MONDO:0040674 orgasm disorder biolink:Disease mondo ICD10:F52.3|SCTID:82636008 SNOMEDCT:82636008 http://purl.obolibrary.org/obo/MONDO_0040674 abnormal orgasm|orgasm disorder|orgasmic dysfunction MONDO:0040673 malignant peritoneal germ cell tumor biolink:Disease mondo UMLS:C4526657|NCIT:C136410 A malignant germ cell tumor that affects the peritoneum. NCIT:C136410|UMLS:C4526657 http://purl.obolibrary.org/obo/MONDO_0040673 malignant peritoneal germ cell tumor GO:0060295 regulation of cilium movement involved in cell motility biolink:OntologyClass mondo Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility. http://purl.obolibrary.org/obo/GO_0060295 MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency biolink:Disease mondo SCTID:80963002|UMLS:C0272060 UMLS:C0272060|SNOMEDCT:80963002 http://purl.obolibrary.org/obo/MONDO_0040671 G6PD class V variant anemia|glucose-6-phosphate dehydrogenase deficiency class V variant anemia MONDO:0013095 GLM6 biolink:Disease mondo UMLS:C2751639|OMIM:613031 UMLS:C2751639|http://identifiers.org/omim/613031 http://purl.obolibrary.org/obo/MONDO_0013095 glioma susceptibility 6; GLM6|GLM6|glioma susceptibility 6 MONDO:0013096 GLM7 biolink:Disease mondo OMIM:613032 http://identifiers.org/omim/613032 http://purl.obolibrary.org/obo/MONDO_0013096 glioma susceptibility 7|glioma susceptibility 7; GLM7|GLM7 MONDO:0013093 glioma susceptibility 3 biolink:Disease mondo OMIM:613029 Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene. http://identifiers.org/omim/613029 http://purl.obolibrary.org/obo/MONDO_0013093 BRCA2 malignant glioma|glioma susceptibility 3; GLM3|glioma susceptibility 3|GLM3|glioma susceptibility type 3|malignant glioma caused by mutation in BRCA2 predisposition MONDO:0013094 GLM5 biolink:Disease mondo OMIM:613030 http://identifiers.org/omim/613030 http://purl.obolibrary.org/obo/MONDO_0013094 glioma susceptibility 5; GLM5|GLM5|glioma susceptibility 5 GO:0098869 cellular oxidant detoxification biolink:OntologyClass mondo Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide. http://purl.obolibrary.org/obo/GO_0098869 MONDO:0013099 combined pituitary hormone deficiencies, genetic form biolink:Disease mondo OMIMPS:613038|SCTID:718182008|GARD:0002252|GARD:0010602|Orphanet:95494|ICD10:E23.0 Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. ORPHA:95494|SNOMEDCT:718182008 http://purl.obolibrary.org/obo/MONDO_0013099 familial hypopituitarism|pituitary hormone deficiency, combined|genetic hypopituitarism|combined pituitary hormone deficiencies, genetic forms|multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism ordo_disease|gard_rare MONDO:0013097 GLM8 biolink:Disease mondo OMIM:613033|UMLS:C2751637 UMLS:C2751637|http://identifiers.org/omim/613033 http://purl.obolibrary.org/obo/MONDO_0013097 glioma susceptibility 8|GLM8|glioma susceptibility 8; GLM8 MONDO:0013098 noise induced hearing loss biolink:Disease mondo OMIM:613035|SCTID:73415002|ICD9:388.12|NCIT:C34664|MESH:D006317|COHD:440422|EFO:1001254 A condition in which a person loses the ability to hear due to exposure to high intensity sound. MESH:D006317|SNOMEDCT:73415002|http://identifiers.org/omim/613035|NCIT:C34664 http://purl.obolibrary.org/obo/MONDO_0013098 hearing loss, noise-induced, susceptibility to|hearing loss, noise-induced, susceptibility to; NIHL|NIHL|noise-induced hearing loss MONDO:0013080 primary biliary cholangitis 3 biolink:Disease mondo MESH:C567816|UMLS:C2751695|OMIM:613008 http://identifiers.org/omim/613008|MESH:C567816|UMLS:C2751695 http://purl.obolibrary.org/obo/MONDO_0013080 biliary cirrhosis, primary, 3|biliary cirrhosis, primary, 3; PBC3|PBC3 MONDO:0013081 lymphoproliferative syndrome 1 biolink:Disease mondo UMLS:C3552634|DOID:0060707|Orphanet:538963|MESH:C567815|ICD10:D47.9|OMIM:613011|NCIT:C126344 A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.. DOID:0060707|UMLS:C3552634|http://identifiers.org/omim/613011|MESH:C567815|ORPHA:538963|NCIT:C126344 http://purl.obolibrary.org/obo/MONDO_0013081 lymphoproliferative syndrome 1; LPFS1|lymphoproliferative syndrome 1|ITK lymphoproliferative syndrome|ITK deficiency|lymphoproliferative syndrome caused by mutation in ITK|lymphoproliferative syndrome type 1|LPFS1 ordo_disease MONDO:0025062 encephalomyelitis, enzootic porcine biolink:Disease mondo MESH:D004682 A picornavirus infection producing symptoms similar to poliomyelitis in pigs. MESH:D004682 http://purl.obolibrary.org/obo/MONDO_0025062 poliomyelitis, porcine|disease, Teschen|Talfan disease|Teschen disease|porcine poliomyelitis|porcine encephalomyelitis, enzootic|enzootic porcine encephalomyelitis|disease, Talfan MONDO:0025061 edema disease of swine biolink:Disease mondo UMLS:C0013605|MESH:D004488 An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema. MESH:D004488|UMLS:C0013605 http://purl.obolibrary.org/obo/MONDO_0025061 swine edema disease|swine edema diseases MONDO:0025066 epidermitis, exudative, of swine biolink:Disease mondo MESH:D004818|UMLS:C0014521 An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed) MESH:D004818|UMLS:C0014521 http://purl.obolibrary.org/obo/MONDO_0025066 Epidermitis, exudative of swine|exudative dermatitis of swine|disease, greasy pig|greasy pig disease|swine exudative dermatitis|swine exudative Dermatitides NCBITaxon:504568 Salmoninae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_504568 trouts, salmons & chars GO:0060284 regulation of cell development biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/GO_0060284 GO:0060285 cilium-dependent cell motility biolink:OntologyClass mondo Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/GO_0060285 microtubule-based flagellar cell motility|ciliary cell motility|cilium cell motility MONDO:0040678 infiltrating urothelial carcinoma biolink:Disease mondo UMLS:C1512751|NCIT:C39853 A invasive carcinoma that involves the urothelium. UMLS:C1512751|NCIT:C39853 http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma|infiltrating transitional cell carcinoma of the urinary tract GO:1900073 regulation of neuromuscular synaptic transmission biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of neuromuscular synaptic transmission. http://purl.obolibrary.org/obo/GO_1900073 MONDO:0040677 invasive carcinoma biolink:Disease mondo NCIT:C9480|UMLS:C1334274 A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. UMLS:C1334274|NCIT:C9480 http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma MONDO:0040676 great vessel cancer biolink:Disease mondo NCIT:C4575|UMLS:C3665405 A malignant neoplasm arising from the great vessels. NCIT:C4575|UMLS:C3665405 http://purl.obolibrary.org/obo/MONDO_0040676 malignant great vessel of heart neoplasm|great vessel of heart cancer|malignant neoplasm of great vessel of heart|malignant great vessel neoplasm|cancer of great vessel of heart|malignant great vessel tumor|great vessel cancer GO:1900075 positive regulation of neuromuscular synaptic transmission biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of neuromuscular synaptic transmission. http://purl.obolibrary.org/obo/GO_1900075 up regulation of neuromuscular synaptic transmission|upregulation of neuromuscular synaptic transmission|activation of neuromuscular synaptic transmission|up-regulation of neuromuscular synaptic transmission MONDO:0040675 myofibroblastoma biolink:Disease mondo ICDO:8825/0|NCIT:C49012 A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma. NCIT:C49012 http://purl.obolibrary.org/obo/MONDO_0040675 myofibroblastoma GO:1900074 negative regulation of neuromuscular synaptic transmission biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of neuromuscular synaptic transmission. http://purl.obolibrary.org/obo/GO_1900074 inhibition of neuromuscular synaptic transmission|down-regulation of neuromuscular synaptic transmission|down regulation of neuromuscular synaptic transmission|downregulation of neuromuscular synaptic transmission MONDO:0040679 urothelial carcinoma biolink:Disease mondo NCIT:C4030|EFO:0008528|UMLS:C2145472 A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. UMLS:C2145472|NCIT:C4030 http://purl.obolibrary.org/obo/MONDO_0040679 transitional cell car. -uroth.|Uroepithelial carcinoma|urothelial carcinoma|transitional cell carcinoma of the urothelial tract|transitional cell carcinoma of the urinary tract MONDO:0013084 NBLST4 biolink:Disease mondo OMIM:613015 http://identifiers.org/omim/613015 http://purl.obolibrary.org/obo/MONDO_0013084 NBLST4|neuroblastoma, susceptibility to, 4; NBLST4|neuroblastoma, susceptibility to, 4 predisposition MONDO:0013085 NBLST5 biolink:Disease mondo OMIM:613016 http://identifiers.org/omim/613016 http://purl.obolibrary.org/obo/MONDO_0013085 NBLST5|neuroblastoma, susceptibility to, 5; NBLST5|neuroblastoma, susceptibility to, 5 predisposition MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome biolink:Disease mondo GARD:0002695|Orphanet:2151|MESH:C538119|UMLS:C2751683|ICD10:Q43.1|OMIM:613013 UMLS:C2751683|http://identifiers.org/omim/613013|MESH:C538119|ORPHA:2151 http://purl.obolibrary.org/obo/MONDO_0013082 neuroblastoma, susceptibility to, type 2|neuroblastoma with Hirschsprung disease|Hirschsprung disease ganglioneuroblastoma|susceptibility to neuroblastoma 2|neuroblastoma, susceptibility to, 2; NBLST2|neuroblastoma, susceptibility to, 2|NBLST2 predisposition|ordo_malformation_syndrome MONDO:0013083 neuroblastoma, susceptibility to, 3 biolink:Disease mondo OMIM:613014 Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene. http://identifiers.org/omim/613014 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, type 3|susceptibility to neuroblastoma 3|ALK neuroblastoma|neuroblastoma, susceptibility to, 3; NBLST3|neuroblastoma, susceptibility to, 3|NBLST3|neuroblastoma caused by mutation in ALK predisposition MONDO:0013088 FL1 biolink:Disease mondo OMIM:613024 http://identifiers.org/omim/613024 http://purl.obolibrary.org/obo/MONDO_0013088 follicular lymphoma, susceptibility to, 1|FL1|follicular lymphoma, susceptibility to, 1; FL1 predisposition MONDO:0013089 SCZD13 biolink:Disease mondo DOID:0070089|UMLS:C2751663|OMIM:613025 A schizophrenia that has material basis in a mutation on chromosome 15q13. UMLS:C2751663|DOID:0070089|http://identifiers.org/omim/613025 http://purl.obolibrary.org/obo/MONDO_0013089 schizophrenia susceptibility locus, chromosome 15Q13-q14-related|schizophrenia, Neurophysiologic defect 1N|schizophrenia 13; SCZD13|schizophrenia 13|SCZD13 MONDO:0013086 NBLST6 biolink:Disease mondo OMIM:613017 http://identifiers.org/omim/613017 http://purl.obolibrary.org/obo/MONDO_0013086 neuroblastoma, susceptibility to, 6|NBLST6|neuroblastoma, susceptibility to, 6; NBLST6 predisposition MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 biolink:Disease mondo OMIM:613021|MESH:C567813|UMLS:C2751666 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene. UMLS:C2751666|http://identifiers.org/omim/613021|MESH:C567813 http://purl.obolibrary.org/obo/MONDO_0013087 cystic fibrosis-like syndrome|bronchiectasis caused by mutation in SCNN1A|SCNN1A bronchiectasis|bronchiectasis with or without elevated sweat chloride 2|bronchiectasis with or without elevated sweat chloride 2; BESC2|BESC2|bronchiectasis with or without elevated sweat chloride type 2 MONDO:0001004 slate pneumoconiosis biolink:Disease mondo NCIT:C35397|SCTID:1259003|ICD9:502|DOID:10330|UMLS:C0340186 Pneumoconiosis caused by exposure to slate dust. SNOMEDCT:1259003|UMLS:C0340186|DOID:10330|NCIT:C35397 http://purl.obolibrary.org/obo/MONDO_0001004 Schistosis NCBITaxon:11584 Phlebovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11584 Phleboviruses MONDO:0003667 obsolete spermatocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003667 spermatocytic seminoma|spermatocytic seminoma (morphologic abnormality) MONDO:0003668 extragonadal seminoma biolink:Disease mondo UMLS:C1333502|DOID:5838|NCIT:C7327 NCIT:C7327|UMLS:C1333502|DOID:5838 http://purl.obolibrary.org/obo/MONDO_0003668 primary extragonadal seminoma|extragonadal seminoma|extragonadal primary seminoma MONDO:0001003 pneumoconiosis due to talc biolink:Disease mondo UMLS:C0238377|NCIT:C27026|ICD9:502|ICD10:J62.0|DOID:10329|SCTID:73144008 Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities. NCIT:C27026|SNOMEDCT:73144008|DOID:10329|UMLS:C0238377 http://purl.obolibrary.org/obo/MONDO_0001003 talc pneumoconiosis MONDO:0003669 testicular seminoma biolink:Disease mondo EFO:0003101|Orphanet:842|NCIT:C7328|ICD9:186.9|GARD:0004792|ICD10:C62.9|HP:0100617|SCTID:255107005|DOID:5842 A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma. ORPHA:842|NCIT:C7328|SNOMEDCT:255107005|DOID:5842 http://purl.obolibrary.org/obo/MONDO_0003669 testicular seminoma Pure|seminoma of the testis|testis seminoma|testicular seminoma (disease)|testicular seminomatous germ cell tumor|seminomatous germ cell tumor of testis|testicular seminoma|seminoma testis|seminoma of testis gard_rare|ordo_disease MONDO:0001002 obsolete pulmonary siderosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001002 MONDO:0001001 baritosis biolink:Disease mondo DOID:10321|ICD9:503|SCTID:50076003|UMLS:C0340177|GARD:0008371|NCIT:C34410|MESH:C537080 A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. UMLS:C0340177|DOID:10321|SNOMEDCT:50076003|MESH:C537080|NCIT:C34410 http://purl.obolibrary.org/obo/MONDO_0001001 deposition of barium in the lungs|inhalation of barytes gard_rare MONDO:0003663 uterine ligament endometrioid adenocarcinoma biolink:Disease mondo DOID:5829|UMLS:C1519868|NCIT:C40138 A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis. UMLS:C1519868|NCIT:C40138|DOID:5829 http://purl.obolibrary.org/obo/MONDO_0003663 endometrioid adenocarcinoma of uterine ligament|uterine ligament endometrioid adenocarcinoma MONDO:0001008 blepharophimosis (disease) biolink:Disease mondo ICD10:H02.52|GARD:0005932|DOID:10348|ICD9:374.46|MESH:D016569|HP:0000581 The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed) DOID:10348|MESH:D016569 http://purl.obolibrary.org/obo/MONDO_0001008 blepharophimosis NCBITaxon:11588 Rift Valley fever virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11588 RVFV UBERON:0012283 femoral fat pad biolink:AnatomicalEntity mondo encapsulated adipose tissue associated with the femur http://purl.obolibrary.org/obo/UBERON_0012283 femoral fat depot MONDO:0001007 chronic meningitis biolink:Disease mondo COHD:439797|DOID:10341|ICD9:322.2|UMLS:C0154653|SCTID:21664006|ICD10:G03.1 Chronic form of meningitis (disease). SNOMEDCT:21664006|DOID:10341|UMLS:C0154653 http://purl.obolibrary.org/obo/MONDO_0001007 meningitis (disease), chronic|chronic meningitis (disease) MONDO:0003664 hemolytic anemia biolink:Disease mondo SCTID:61261009|ICD10:D55.D59|DOID:583|ICD10:D55-D59|MESH:D000743|EFO:0005558|NCIT:C34376 Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. NCIT:C34376|DOID:583|MESH:D000743|SNOMEDCT:61261009 http://purl.obolibrary.org/obo/MONDO_0003664 anemia, hemolytic|hemolytic anemia|anemia hemolytic UBERON:0036253 orifice of skull biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036253 cranial orifice|skull orifice MONDO:0003665 cervical endometrioid adenocarcinoma biolink:Disease mondo UMLS:C1332913|ONCOTREE:CEEN|NCIT:C6343|EFO:1000164|DOID:5830 A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. NCIT:C6343|DOID:5830|UMLS:C1332913 http://purl.obolibrary.org/obo/MONDO_0003665 cervical endometrioid carcinoma|endometrioid adenocarcinoma of cervix|endometrioid adenocarcinoma of the cervix|endometrioid adenocarcinoma of cervix uteri|cervical endometrioid adenocarcinoma|endometrioid adenocarcinoma of uterine cervix|endometrioid adenocarcinoma of the cervix uteri|endometrioid adenocarcinoma of the uterine cervix|uterine cervix endometrioid carcinoma|uterine cervix endometrioid adenocarcinoma|cervix uteri endometrioid carcinoma|endometrioid carcinoma of cervix|endometrioid carcinoma of the cervix|cervix endometrioid adenocarcinoma|cervix endometrioid carcinoma|endometrioid carcinoma of cervix uteri|endometrioid carcinoma of uterine cervix|endometrioid carcinoma of the uterine cervix|cervix uteri endometrioid adenocarcinoma|endometrioid carcinoma of the cervix uteri GO:0050820 positive regulation of coagulation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of coagulation. http://purl.obolibrary.org/obo/GO_0050820 upregulation of coagulation|up-regulation of coagulation|positive regulation of clotting|up regulation of coagulation|activation of coagulation|stimulation of coagulation MONDO:0001006 glaucomatous atrophy of optic disc biolink:Disease mondo DOID:10337|ICD9:377.14|UMLS:C0271342|SCTID:1207009|COHD:438155|ICD10:H47.23 DOID:10337|UMLS:C0271342|SNOMEDCT:1207009 http://purl.obolibrary.org/obo/MONDO_0001006 glaucomatous atrophy [cupping] of optic disc UBERON:0012282 mammary fat pad biolink:AnatomicalEntity mondo encapsulated adipose tissue associated with the mammary gland http://purl.obolibrary.org/obo/UBERON_0012282 MONDO:0001005 kaolin pneumoconiosis biolink:Disease mondo DOID:10331|SCTID:36696005|ICD9:502|GARD:0008355|UMLS:C0264435|NCIT:C35315 Pneumoconiosis caused by inhalation of kaolin dust. UMLS:C0264435|DOID:10331|SNOMEDCT:36696005|NCIT:C35315 http://purl.obolibrary.org/obo/MONDO_0001005 Kaolinosis|simple kaolinosis gard_rare MONDO:0003666 fallopian tube endometrioid adenocarcinoma biolink:Disease mondo UMLS:C1333592|NCIT:C6279|DOID:5831 An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis. NCIT:C6279|UMLS:C1333592|DOID:5831 http://purl.obolibrary.org/obo/MONDO_0003666 fallopian tube endometrioid adenocarcinoma|fallopian tube endometrioid cancer|fallopian tube endometrioid carcinoma|endometrioid carcinoma of fallopian tube|endometrioid carcinoma of the fallopian tube|endometrioid adenocarcinoma of fallopian tube|fallopian tube endometrioid neoplasm|endometrioid adenocarcinoma of the fallopian tube UBERON:0012281 perianal sebaceous gland biolink:AnatomicalEntity mondo A holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus. http://purl.obolibrary.org/obo/UBERON_0012281 circumanal gland|perianal gland MONDO:0003660 adult lymphoma biolink:Disease mondo NCIT:C7587|DOID:5825|UMLS:C1332206 A lymphoma that occurs in an adult. UMLS:C1332206|DOID:5825|NCIT:C7587 http://purl.obolibrary.org/obo/MONDO_0003660 lymphoma of adults|lymphoma|adult lymphoma NCBITaxon:60516 Dibothriocephalus latus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_60516 Diphyllobothrium latum|broad fish tapeworm UBERON:0012287 Rathkes pouch epithelium biolink:AnatomicalEntity mondo A epithelial sac that is part of a Rathke's pouch. http://purl.obolibrary.org/obo/UBERON_0012287 MONDO:0003661 breast lymphoma biolink:Disease mondo UMLS:C0349669|SCTID:278052009|UMLS:C1704251|DOID:5826|NCIT:C4671 A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare. UMLS:C0349669|SNOMEDCT:278052009|NCIT:C4671|DOID:5826|UMLS:C1704251 http://purl.obolibrary.org/obo/MONDO_0003661 malignant lymphoma of breast|lymphoma of breast|breast lymphoma|lymphoma of the breast|primary breast lymphoma MONDO:0003662 obsolete endometrioid ovary carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003662 MONDO:0001000 mixed mineral dust pneumoconiosis biolink:Disease mondo ICD9:503|UMLS:C0340184|DOID:10319|SCTID:233759002|NCIT:C27559 Pneumoconiosis caused by the inhalation of mixed mineral dust particles. UMLS:C0340184|NCIT:C27559|DOID:10319|SNOMEDCT:233759002 http://purl.obolibrary.org/obo/MONDO_0001000 mineral dust pneumoconiosis|pneumoconiosis from mineral dust|mineral duct pneumoconiosis|mixed mineral dust pneumoconiosis HGNC:24475 DMGDH biolink:OntologyClass mondo http://identifiers.org/hgnc/24475 GO:2001273 obsolete regulation of glucose import in response to insulin stimulus biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus. http://purl.obolibrary.org/obo/GO_2001273 regulation of cellular glucose import in response to insulin stimulus MONDO:0015656 metabolic disease with epilepsy biolink:Disease mondo UMLS:C1299598|Orphanet:166481 UMLS:C1299598|ORPHA:166481 http://purl.obolibrary.org/obo/MONDO_0015656 metabolic diseases with epilepsy ordo_group_of_disorders GO:2001274 obsolete negative regulation of glucose import in response to insulin stimulus biolink:OntologyClass mondo OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus. http://purl.obolibrary.org/obo/GO_2001274 negative regulation of cellular glucose import in response to insulin stimulus MONDO:0015655 cerebral malformation with epilepsy biolink:Disease mondo Orphanet:166478 ORPHA:166478 http://purl.obolibrary.org/obo/MONDO_0015655 ordo_group_of_disorders MONDO:0015654 idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes biolink:Disease mondo Orphanet:166475|UMLS:CN200064 ORPHA:166475|UMLS:CN200064 http://purl.obolibrary.org/obo/MONDO_0015654 ordo_group_of_disorders GO:2001275 obsolete positive regulation of glucose import in response to insulin stimulus biolink:OntologyClass mondo OBSOLETE. Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus. http://purl.obolibrary.org/obo/GO_2001275 positive regulation of cellular glucose import in response to insulin stimulus MONDO:0015653 monogenic epilepsy biolink:Disease mondo UMLS:CN200063|Orphanet:166472 ORPHA:166472|UMLS:CN200063 http://purl.obolibrary.org/obo/MONDO_0015653 monogenic disease with epilepsy ordo_group_of_disorders MONDO:0015659 infectious disease with epilepsy biolink:Disease mondo Orphanet:166490|UMLS:CN200068 ORPHA:166490|UMLS:CN200068 http://purl.obolibrary.org/obo/MONDO_0015659 ordo_group_of_disorders MONDO:0015658 cerebral diseases of vascular origin with epilepsy biolink:Disease mondo Orphanet:166487|UMLS:CN200067 ORPHA:166487|UMLS:CN200067 http://purl.obolibrary.org/obo/MONDO_0015658 ordo_group_of_disorders MONDO:0015657 inflammatory and autoimmune disease with epilepsy biolink:Disease mondo Orphanet:166484|UMLS:CN200066 ORPHA:166484|UMLS:CN200066 http://purl.obolibrary.org/obo/MONDO_0015657 ordo_group_of_disorders MONDO:0015652 chromosomal anomaly with epilepsy as a major feature biolink:Disease mondo Orphanet:166469 ORPHA:166469 http://purl.obolibrary.org/obo/MONDO_0015652 obsoletion_candidate|ordo_group_of_disorders MONDO:0015651 neurocutaneous syndrome with epilepsy biolink:Disease mondo UMLS:CN200062|Orphanet:166466 ORPHA:166466|UMLS:CN200062 http://purl.obolibrary.org/obo/MONDO_0015651 ordo_group_of_disorders HGNC:12496 UBE3A biolink:OntologyClass mondo http://identifiers.org/hgnc/12496 HGNC:7045 MGAT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7045 MONDO:0015650 epilepsy syndrome biolink:Disease mondo Orphanet:166463 ORPHA:166463 http://purl.obolibrary.org/obo/MONDO_0015650 syndromic epilepsy|epileptic syndrome ordo_group_of_disorders MONDO:0001015 eosinophilic meningitis biolink:Disease mondo NCIT:C128374|SCTID:25671008|ICD9:322.1|DOID:10361|COHD:443746|UMLS:C0154652 Meningitis in which eosinophils predominate in the cerebrospinal fluid. SNOMEDCT:25671008|DOID:10361|UMLS:C0154652|NCIT:C128374 http://purl.obolibrary.org/obo/MONDO_0001015 MONDO:0003678 silent myocardial infarction biolink:Disease mondo NCIT:C35400|SCTID:233843008|UMLS:C0340324|DOID:5854 A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings. UMLS:C0340324|SNOMEDCT:233843008|NCIT:C35400|DOID:5854 http://purl.obolibrary.org/obo/MONDO_0003678 silent myocardial infarction MONDO:0001014 chronic leukemia biolink:Disease mondo SCTID:92812005|UMLS:C1279296|NCIT:C3483|COHD:140057|DOID:1036|ICD9:208.10 A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. DOID:1036|NCIT:C3483|SNOMEDCT:92812005|UMLS:C1279296 http://purl.obolibrary.org/obo/MONDO_0001014 adult chronic leukemia|chronic leukemia|leukemia (disease), chronic|chronic leukemia (disease)|CLL|CML MONDO:0003679 anteroseptal myocardial infarction biolink:Disease mondo DOID:5855|UMLS:C0262565 UMLS:C0262565|DOID:5855 http://purl.obolibrary.org/obo/MONDO_0003679 MONDO:0001013 obsolete fibrosclerosis of breast biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001013 HGNC:24488 POC1A biolink:OntologyClass mondo http://identifiers.org/hgnc/24488 MONDO:0001012 obsolete breast fibroadenosis biolink:Disease mondo SCTID:23260002|COHD:75010|DOID:10352|ICD9:610.2|ICD10:N60.2|UMLS:C1305875 SNOMEDCT:23260002|DOID:10352|UMLS:C1305875 http://purl.obolibrary.org/obo/MONDO_0001012 fibroadenosis of breast|fibroadenosis - breast NCBITaxon:11598 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11598 MONDO:0003674 subendocardial myocardial infarction biolink:Disease mondo DOID:5849|UMLS:C0262568 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart. UMLS:C0262568|NCIT:C35305|DOID:5849 http://purl.obolibrary.org/obo/MONDO_0003674 myocardial infarction (disease) of subendocardium layer|subendocardium layer myocardial infarction (disease) MONDO:0001019 suppression amblyopia biolink:Disease mondo ICD9:368.01|UMLS:C0750903|DOID:10375|COHD:374649|SCTID:35600002|ICD10:H53.03 A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications. UMLS:C0750903|DOID:10375|SNOMEDCT:35600002 http://purl.obolibrary.org/obo/MONDO_0001019 strabismic amblyopia UBERON:0012273 periampullary region of duodenum biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012273 periampullary region UBERON:0036262 uterine ligament biolink:AnatomicalEntity mondo Any of the eight ligaments pertaining to the uterus including the anterior, posterior, lateral, sacro-uterine and round ligaments. http://purl.obolibrary.org/obo/UBERON_0036262 NCBITaxon:11599 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11599 MONDO:0003675 posterolateral myocardial infarction biolink:Disease mondo DOID:5851 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart. NCIT:C35672|DOID:5851 http://purl.obolibrary.org/obo/MONDO_0003675 MONDO:0001018 obsolete lymphoblastic leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001018 UBERON:0036264 zygomaticotemporal nerve biolink:AnatomicalEntity mondo The zygomaticotemporal nerve or zygomaticotemporal branch (temporal branch) is derived from the maxillary branch of the trigeminal nerve (Cranial nerve V). It runs along the lateral wall of the orbit in a groove in the zygomatic bone, receives a branch of communication from the lacrimal, and passes through zygomaticotemporal foramen in the zygomatic bone to enter the temporal fossa. It ascends between the bone, and substance of the Temporalis muscle, pierces the temporal fascia about 2.5 cm. above the zygomatic arch, and is distributed to the skin of the side of the forehead, and communicates with the facial nerve and with the auriculotemporal branch of the mandibular nerve. As it pierces the temporal fascia, it gives off a slender twig, which runs between the two layers of the fascia to the lateral angle of the orbit. http://purl.obolibrary.org/obo/UBERON_0036264 zygomaticotemporal branch of zygomatic nerve|zygomaticotemporal branch|ramus zygomaticotemporalis (Nervus zygomaticus)|ramus zygomaticotemporalis nervus zygomatici|zygomaticotemporal MONDO:0001017 epididymal adenocarcinoma biolink:Disease mondo DOID:10368|UMLS:C1510784|NCIT:C39957 A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain. UMLS:C1510784|DOID:10368|NCIT:C39957 http://purl.obolibrary.org/obo/MONDO_0001017 adenocarcinoma of the epididymis|epididymal adenocarcinoma|epididymis adenocarcinoma MONDO:0003676 inferolateral myocardial infarct biolink:Disease mondo DOID:5852 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart. NCIT:C35673|DOID:5852 http://purl.obolibrary.org/obo/MONDO_0003676 ENVO:00000194 scree biolink:OntologyClass mondo Broken rock that appears at the bottom of crags, mountain cliffs or valley shoulders. http://purl.obolibrary.org/obo/ENVO_00000194 TALUS|talus slope MONDO:0001016 epididymis cancer biolink:Disease mondo DOID:10366|NCIT:C3558|UMLS:C0153602|ICD10:C63.0|ICD9:187.5|SCTID:363452003 A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site. DOID:10366|UMLS:C0153602|NCIT:C3558|SNOMEDCT:363452003 http://purl.obolibrary.org/obo/MONDO_0001016 malignant epididymal tumor|malignant epididymal neoplasm|malignant tumor of epididymis|malignant tumor of the epididymis|epididymis cancer|malignant neoplasm of epididymis|malignant neoplasm of the epididymis|cancer of epididymis|malignant epididymis neoplasm MONDO:0003677 lateral myocardial infarction biolink:Disease mondo DOID:5853 DOID:5853 http://purl.obolibrary.org/obo/MONDO_0003677 UBERON:0036263 supraglottic part of larynx biolink:AnatomicalEntity mondo The upper part of the larynx, including the epiglottis; the area above the vocal cords. http://purl.obolibrary.org/obo/UBERON_0036263 supraglottic larynx|supraglottis UBERON:0036266 pars interarticularis of vertebra biolink:AnatomicalEntity mondo The part of vertebra located between the inferior and superior articular processes of the facet joint. http://purl.obolibrary.org/obo/UBERON_0036266 pars interarticularis MONDO:0003670 posteroinferior myocardial infarction biolink:Disease mondo DOID:5843 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart. NCIT:C36068|DOID:5843 http://purl.obolibrary.org/obo/MONDO_0003670 posteroinferior myocardial infarction by ECG finding|posteroinferior myocardial infarction by EKG finding ENVO:00000191 solid astronomical body part biolink:OntologyClass mondo A part of an astronomical body which is primarily composed of a continuous volume of solid material, shaped by one or more environmental processes. http://purl.obolibrary.org/obo/ENVO_00000191 geological feature|physiographic feature MONDO:0003671 septal myocardial infarction biolink:Disease mondo DOID:5846 A myocardial infarction (disease) that involves the cardiac septum. DOID:5846 http://purl.obolibrary.org/obo/MONDO_0003671 myocardial infarction (disease) of cardiac septum|cardiac septum myocardial infarction (disease) UBERON:0012276 endometrium glandular epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012276 glandular part of endometrium|uterine glands set|uterine glands UBERON:0012275 meso-epithelium biolink:AnatomicalEntity mondo Epithelium that derives from the mesoderm. [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0012275 mesoderm-derived epithelium|mesoepithelium MONDO:0003672 posterior myocardial infarction biolink:Disease mondo SCTID:194802003|DOID:5847|UMLS:C0264706 SNOMEDCT:194802003|DOID:5847|UMLS:C0264706 http://purl.obolibrary.org/obo/MONDO_0003672 true posterior wall infarction|true posterior myocardial infarction UBERON:0036268 pelvic vein biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036268 MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy biolink:Disease mondo Orphanet:166302|UMLS:CN226718|ICD10:G40.1 Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal. UMLS:CN226718|ORPHA:166302 http://purl.obolibrary.org/obo/MONDO_0015639 ordo_disease MONDO:0003673 apical myocardial infarction biolink:Disease mondo DOID:5848 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart. NCIT:C36073|DOID:5848 http://purl.obolibrary.org/obo/MONDO_0003673 UBERON:0012274 columnar epithelium biolink:AnatomicalEntity mondo An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified] http://purl.obolibrary.org/obo/UBERON_0012274 UBERON:0036267 vulval vein biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036267 MONDO:0001011 breast cyst biolink:Disease mondo DOID:10350|SCTID:399294002|MESH:D047688|ICD10:N60.0|EFO:1000848 A cystic lesion located in breast tissue. NCIT:C5315|MESH:D047688|DOID:10350|SNOMEDCT:399294002 http://purl.obolibrary.org/obo/MONDO_0001011 cyst of the breast UBERON:0036269 penis blood vessel biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036269 vasculature of penis|penis vasculature MONDO:0001010 obsolete natural killer cell leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001010 GO:0050839 cell adhesion molecule binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a cell adhesion molecule. http://purl.obolibrary.org/obo/GO_0050839 cell adhesion receptor activity|adhesive extracellular matrix constituent|cell adhesion molecule activity|CAM binding NCBITaxon:203691 Spirochaetes organism taxon mondo PMID:29458499|PMID:26654112|PMID:11837318|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetaeota|Spirochaetae|Spirochaetota NCBITaxon:203692 Spirochaetia organism taxon mondo GC_ID:11|PMID:25288668|PMID:26654112|PMID:11837318 http://purl.obolibrary.org/obo/NCBITaxon_203692 Spirochaetes UBERON:0012278 gland of nasal mucosa biolink:AnatomicalEntity mondo The nasal glands are the seromucous glands in the respiratory region of the nasal mucous membrane. The three major types of nasal glands are anterior serous glands, seromucous glands, and Bowman glands. http://purl.obolibrary.org/obo/UBERON_0012278 glandulae nasales|nasal gland|glandula nasalis MONDO:0015645 eating seizures biolink:Disease mondo Orphanet:166418|UMLS:C0393725|ICD10:G40.8|SCTID:230450001 UMLS:C0393725|SNOMEDCT:230450001|ORPHA:166418 http://purl.obolibrary.org/obo/MONDO_0015645 eating reflex epilepsy|eating epilepsy ordo_disease MONDO:0015644 audiogenic seizures biolink:Disease mondo ICD10:G40.8|SCTID:765216006|Orphanet:166415|UMLS:C0751791 Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice). UMLS:C0751791|ORPHA:166415|SNOMEDCT:765216006 http://purl.obolibrary.org/obo/MONDO_0015644 ordo_disease CHEBI:86327 antifungal drug biolink:ChemicalSubstance mondo Any antifungal agent used to prevent or treat fungal infections in humans or animals. http://purl.obolibrary.org/obo/CHEBI_86327 antifungal medication|antifungal medications|antifungal drugs|pharmaceutical fungicides|anti-fungal drug|anti-fungal medications|anti-fungal medication|anti-fungal drugs|pharmaceutical fungicide MONDO:0015643 photosensitive epilepsy biolink:Disease mondo ICD9:345.80|ICD10:G40.8|SCTID:95208000|DOID:0060281|Orphanet:166409|OMIMPS:132100|GARD:0005648|UMLS:C0393720 An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. DOID:0060281|UMLS:C0393720|SNOMEDCT:95208000|ORPHA:166409 http://purl.obolibrary.org/obo/MONDO_0015643 photogenic epilepsy|photoparoxysmal response|PSE ordo_disease|gard_rare MONDO:0015642 benign partial infantile seizures biolink:Disease mondo Orphanet:166311 ORPHA:166311 http://purl.obolibrary.org/obo/MONDO_0015642 ordo_group_of_disorders MONDO:0015649 micturation-induced seizures biolink:Disease mondo Orphanet:166430|ICD10:G40.8|UMLS:CN200059 Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases. ORPHA:166430|UMLS:CN200059 http://purl.obolibrary.org/obo/MONDO_0015649 ordo_disease MONDO:0015648 startle epilepsy biolink:Disease mondo ICD10:G40.8|Orphanet:166427|SCTID:763632004|UMLS:CN200058 Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability. SNOMEDCT:763632004|ORPHA:166427|UMLS:CN200058 http://purl.obolibrary.org/obo/MONDO_0015648 ordo_disease MONDO:0015647 thinking seizures biolink:Disease mondo ICD10:G40.8|SCTID:763622006|Orphanet:166424|UMLS:CN200057 Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed. SNOMEDCT:763622006|ORPHA:166424|UMLS:CN200057 http://purl.obolibrary.org/obo/MONDO_0015647 ordo_disease MONDO:0015646 orgasm-induced seizures biolink:Disease mondo ICD10:G40.8|Orphanet:166421|UMLS:CN200056 Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. ORPHA:166421|UMLS:CN200056 http://purl.obolibrary.org/obo/MONDO_0015646 ordo_disease MONDO:0001009 solitary cyst of breast biolink:Disease mondo DOID:10349|ICD10:N60.09|ICD9:610.0|ICD10:N60.0|COHD:78473|SCTID:266578003 A single, fluid-filled cyst in the breast parenchyma. DOID:10349|NCIT:C3378|SNOMEDCT:266578003 http://purl.obolibrary.org/obo/MONDO_0001009 solitary cyst of breast|solitary cyst of the breast MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep biolink:Disease mondo Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. ORPHA:166308 http://purl.obolibrary.org/obo/MONDO_0015641 benign infantile focal epilepsy with midline spikes and waves during sleep|BIMSE ordo_disease MONDO:0015640 benign infantile seizures associated with mild gastroenteritis biolink:Disease mondo Orphanet:166305|SCTID:765756007 Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness. ORPHA:166305|SNOMEDCT:765756007 http://purl.obolibrary.org/obo/MONDO_0015640 ordo_disease NCBITaxon:11593 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11593 MONDO:0003645 cavernous hemangioma of face biolink:Disease mondo DOID:5776|NCIT:C7053|EFO:1000152|UMLS:C1332863|HP:0007486 A cavernous hemangioma arising from the face. DOID:5776|UMLS:C1332863|NCIT:C7053 http://purl.obolibrary.org/obo/MONDO_0003645 cavernous hemangioma of face|cavernous hemangioma of the Face|face cavernous hemangioma MONDO:0003646 rectum neuroendocrine neoplasm biolink:Disease mondo DOID:5777|UMLS:C1335686|NCIT:C5698|Orphanet:100081 A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). DOID:5777|NCIT:C5698|ORPHA:100081|UMLS:C1335686 http://purl.obolibrary.org/obo/MONDO_0003646 rectum NET|neuroendocrine tumor of rectum|rectal neuroendocrine neoplasm|rectum neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of rectum|rectum neuroendocrine tumor|NET of the rectum|rectum neuroendocrine neoplasm|rectum neuroendocrine tumor|rectal NET|neuroendocrine neoplasm of the rectum MONDO:0003647 atrophic flaccid tympanic membrane biolink:Disease mondo UMLS:C0155470|ICD9:384.81|DOID:5781|ICD10:H73.81|SCTID:38645004 DOID:5781|UMLS:C0155470|SNOMEDCT:38645004 http://purl.obolibrary.org/obo/MONDO_0003647 MONDO:0003648 tympanic membrane disease biolink:Disease mondo ICD10:H73.9|UMLS:C0041825|SCTID:21426000|DOID:5782|ICD9:384.9|ICD10:H73.90 A disease involving the tympanic membrane. DOID:5782|SNOMEDCT:21426000|UMLS:C0041825 http://purl.obolibrary.org/obo/MONDO_0003648 tympanic membrane disease or disorder|disease of tympanic membrane|disorder of tympanic membrane|disorder of tympanic membrane|tympanic membrane disease|disease or disorder of tympanic membrane HGNC:7060 MGP biolink:OntologyClass mondo http://identifiers.org/hgnc/7060 MONDO:0003641 central nervous system hematopoietic neoplasm biolink:Disease mondo UMLS:C1332882|DOID:5772|NCIT:C5503 A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias. NCIT:C5503|DOID:5772|UMLS:C1332882 http://purl.obolibrary.org/obo/MONDO_0003641 CNS hematopoietic neoplasm|CNS hematopoietic tumor|central nervous system hematopoietic neoplasm|hematopoietic and lymphoid system neoplasm of central nervous system|hematopoietic tumor of central nervous system|hematopoietic tumor of the central nervous system|central nervous system hematopoietic and lymphoid system neoplasm|lymphomas and hemopoietic neoplasms of the CNS|lymphomas and hemopoietic neoplasms of CNS|hematopoietic neoplasm of the central nervous system|hematopoietic neoplasm of the CNS|hematopoietic neoplasm of CNS|central nervous system hematopoietic tumor|central nervous system hematologic cancer|central nervous system hematopoietic neoplasms|hematopoietic neoplasm of central nervous system MONDO:0003642 obsolete oral submucous fibrosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003642 MONDO:0003643 giant hemangioma biolink:Disease mondo DOID:5774|UMLS:C1333817|NCIT:C27777 A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage. NCIT:C27777|UMLS:C1333817|DOID:5774 http://purl.obolibrary.org/obo/MONDO_0003643 giant hemangioma MONDO:0003644 cavernous hemangioma of colon biolink:Disease mondo UMLS:C1333086|DOID:5775|NCIT:C5395 A cavernous hemangioma arising from the colon. DOID:5775|NCIT:C5395|UMLS:C1333086 http://purl.obolibrary.org/obo/MONDO_0003644 colonic cavernous angioma|cavernous angioma of the colon|cavernous angioma of colon|colon cavernous hemangioma|colon cavernous angioma|cavernous hemangioma of the colon|cavernous hemangioma of colon|colonic cavernous hemangioma UBERON:0036274 tonsillar pillar biolink:AnatomicalEntity mondo The anterior and posterior borders of the tonsillar fossa. They are composed of muscle tissue. http://purl.obolibrary.org/obo/UBERON_0036274 MONDO:0015629 von Willebrand disease type 2B biolink:Disease mondo UMLS:C1282971|ICD10:D68.0|Orphanet:166087|SCTID:359717002|SCTID:359721009|NCIT:C131687 Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. UMLS:C1282971|NCIT:C131687|SNOMEDCT:359721009|SNOMEDCT:359717002|ORPHA:166087 http://purl.obolibrary.org/obo/MONDO_0015629 von Willebrand disease, type 2B|von Willebrand disease, type 2B ordo_clinical_subtype MONDO:0003640 verruciform xanthoma of skin biolink:Disease mondo NCIT:C4478|SCTID:254756007|DOID:5769|ICD9:215.9|UMLS:C0346054 A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages. UMLS:C0346054|NCIT:C4478|SNOMEDCT:254756007|DOID:5769 http://purl.obolibrary.org/obo/MONDO_0003640 cutaneous verruciform xanthoma|verruciform xanthoma (morphologic abnormality)|verruciform xanthoma of the skin|skin verruciform xanthoma|verruciform xanthoma MONDO:0015628 von Willebrand disease type 2A biolink:Disease mondo ICD10:D68.0|NCIT:C131686|Orphanet:166084|UMLS:C1282968|SCTID:359714009 Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. SNOMEDCT:359714009|UMLS:C1282968|NCIT:C131686|ORPHA:166084 http://purl.obolibrary.org/obo/MONDO_0015628 von Willebrand disease, type 2A|von Willebrand disease, type 2A ordo_clinical_subtype MONDO:0015634 isolated osteopoikilosis biolink:Disease mondo ICD10:Q78.8|Orphanet:166119 A osteopoikilosis (disease) that is not part of a larger syndrome. ORPHA:166119 http://purl.obolibrary.org/obo/MONDO_0015634 isolated osteopoikilosis (disease)|nonsyndromic osteopoikilosis (disease) ordo_disease MONDO:0015633 Bazex syndrome biolink:Disease mondo Orphanet:166113|SCTID:238640007|UMLS:C0406355|UMLS:CN200039|ICD9:757.39 Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions. UMLS:C0346104|ORPHA:166113|SNOMEDCT:238640007|UMLS:C0406355|UMLS:CN200039 http://purl.obolibrary.org/obo/MONDO_0015633 acrokeratosis paraneoplastica of Bazex|acrokeratosis of Bazex|acrokeratosis paraneoplastica ordo_disease MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy biolink:Disease mondo ICD10:G71.3|Orphanet:166105 ORPHA:166105 http://purl.obolibrary.org/obo/MONDO_0015632 ordo_disease MONDO:0015631 von Willebrand disease type 2N biolink:Disease mondo NCIT:C131689|SCTID:359732009|Orphanet:166093|ICD10:D68.0|UMLS:C1282975 Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII). UMLS:C1282975|NCIT:C131689|ORPHA:166093|SNOMEDCT:359732009 http://purl.obolibrary.org/obo/MONDO_0015631 von Willebrand disease Normandy variant|von Willebrand disease, type 2N|von Willebrand disease, type 2N ordo_clinical_subtype MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures biolink:Disease mondo Orphanet:166299|ICD10:G40.2|UMLS:CN226717 Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal. UMLS:CN226717|ORPHA:166299 http://purl.obolibrary.org/obo/MONDO_0015638 ordo_disease MONDO:0015637 benign non-familial infantile seizures biolink:Disease mondo ICD10:G40.4|Orphanet:166295|UMLS:CN226716 UMLS:CN226716|ORPHA:166295 http://purl.obolibrary.org/obo/MONDO_0015637 ordo_group_of_disorders MONDO:0015636 dirofilariasis biolink:Disease mondo EFO:0007239|GARD:0011908|ICD9:125.6|DOID:1082|SCTID:73328005|ICD10:B74.8|MESH:D004184|UMLS:C0012602|Orphanet:166291 Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans. UMLS:C0012602|DOID:1082|MESH:D004184|ORPHA:166291|SNOMEDCT:73328005 http://purl.obolibrary.org/obo/MONDO_0015636 infection by Dirofilaria|Dirofilaria disease or disorder|Dirofilaria infectious disease|Dirofilaria caused disease or disorder ordo_disease|gard_rare MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus biolink:Disease mondo Orphanet:166286|ICD10:Q82.5|SCTID:239118007|UMLS:C0473579|NCIT:C4740 A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb. UMLS:C0473579|NCIT:C4740|ORPHA:166286|SNOMEDCT:239118007 http://purl.obolibrary.org/obo/MONDO_0015635 Porokeratotic eccrine nevus|Porokeratotic eccrine duct and hair follicle Nevus|linear eccrine Nevus with comedones|comedo nevus of the palm ordo_disease MONDO:0015630 von Willebrand disease type 2M biolink:Disease mondo SCTID:359725000|NCIT:C131688|ICD10:D68.0|Orphanet:166090|UMLS:C1282974|SCTID:359729006 Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. UMLS:C1282974|NCIT:C131688|ORPHA:166090|SNOMEDCT:359729006|SNOMEDCT:359725000 http://purl.obolibrary.org/obo/MONDO_0015630 von Willebrand disease, type 2M|von Willebrand disease, type 2M ordo_clinical_subtype MONDO:0003638 lung meningioma biolink:Disease mondo DOID:5764|NCIT:C5668|UMLS:C1334450 A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas. DOID:5764|NCIT:C5668|UMLS:C1334450 http://purl.obolibrary.org/obo/MONDO_0003638 lung primary meningioma|lung meningioma (disease)|primary pulmonary meningioma|lung meningioma|meningioma of lung|meningioma (disease) of lung|meningioma of the lung|pulmonary meningioma MONDO:0003639 lung hilum neoplasm biolink:Disease mondo SCTID:126707007|DOID:5767|UMLS:C1290358|NCIT:C5671 A benign or malignant neoplasm that arises from the hilar region of the lung. DOID:5767|SNOMEDCT:126707007|NCIT:C5671|UMLS:C1290358 http://purl.obolibrary.org/obo/MONDO_0003639 hilar lung tumor|lung hilum tumor|lung hilum neoplasm|neoplasm of hilus of lung|hilar lung neoplasm|neoplasm of lung hilus|lung hilus tumor|lung hilus neoplasm|lung hilus neoplasm (disease)|tumor of lung hilus HGNC:7067 CIITA biolink:OntologyClass mondo http://identifiers.org/hgnc/7067 HGNC:12472 UBE2A biolink:OntologyClass mondo http://identifiers.org/hgnc/12472 MONDO:0003656 hemoglobinuria biolink:Disease mondo ICD9:791.2|MESH:D006456|UMLS:C0019048|DOID:582|ICD10:R82.3 A laboratory test result which indicates free hemoglobin in the urine. UMLS:C0019048|MESH:D006456|DOID:582|NCIT:C34677 http://purl.obolibrary.org/obo/MONDO_0003656 MONDO:0003657 obsolete methotrexate-associated lymphoproliferation biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003657 MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma biolink:Disease mondo NCIT:C37869|UMLS:C1333878|ICDO:9596/3|GARD:0010897|DOID:5822 A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. DOID:5822|NCIT:C37869|UMLS:C1333878 http://purl.obolibrary.org/obo/MONDO_0003658 large B-cell lymphoma with Hodgkin features|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma|Hodgkin-like anaplastic large cell lymphoma|Gray zone lymphoma|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma gard_rare MONDO:0003659 pediatric lymphoma biolink:Disease mondo NCIT:C5165|UMLS:C1332979|DOID:5823 A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. DOID:5823|UMLS:C1332979|NCIT:C5165 http://purl.obolibrary.org/obo/MONDO_0003659 pediatric lymphoma|lymphoma|childhood lymphoma MONDO:0003652 acute urate nephropathy biolink:Disease mondo ICD9:583.9|UMLS:C0341712|COHD:80070|DOID:580|ICD9:274.11|SCTID:236496000|UMLS:C0403719|NCIT:C123037 Urolithiasis in which the composition of the stones is predominantly urate. UMLS:C0403719|UMLS:C0341712|NCIT:C123037|SNOMEDCT:236496000|DOID:580 http://purl.obolibrary.org/obo/MONDO_0003652 uric acid urolithiasis|uric acid nephrolithiasis NCBITaxon:11577 La Crosse virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11577 Bunyavirus la crosse UBERON:0012251 ectocervical epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a ectocervix. http://purl.obolibrary.org/obo/UBERON_0012251 exocervical epithelium UBERON:0012250 cervix glandular epithelium biolink:AnatomicalEntity mondo A glandular epithelium that is part of a uterine cervix. http://purl.obolibrary.org/obo/UBERON_0012250 cervix columnar epithelium MONDO:0003653 stork bite biolink:Disease mondo DOID:5806|SCTID:254211001 SNOMEDCT:254211001|DOID:5806 http://purl.obolibrary.org/obo/MONDO_0003653 Salmon patch nevus|Unna's nevus UBERON:0036286 wall of right ventricle biolink:AnatomicalEntity mondo Wall of ventricle which is continuous with the wall of pulmonary trunk. http://purl.obolibrary.org/obo/UBERON_0036286 pared del ventrC-culo derecho@es|right ventricular wall MONDO:0003654 childhood parosteal osteosarcoma biolink:Disease mondo DOID:5809|NCIT:C6589|UMLS:C1332994 A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent. NCIT:C6589|DOID:5809|UMLS:C1332994 http://purl.obolibrary.org/obo/MONDO_0003654 childhood parosteal osteosarcoma|childhood parosteal osteogenic sarcoma MONDO:0003655 cerebral lymphoma biolink:Disease mondo NCIT:C7611|DOID:5815|UMLS:C0240803|SCTID:276836002 A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. UMLS:C0240803|NCIT:C7611|SNOMEDCT:276836002|DOID:5815 http://purl.obolibrary.org/obo/MONDO_0003655 primary lymphoma of cerebrum|brain primary lymphoma|primary lymphoma of the cerebrum|primary cerebral lymphoma|cerebral lymphoma|primary lymphoma, brain UBERON:0036285 wall of left ventricle biolink:AnatomicalEntity mondo Wall of ventricle which is continuous with the wall of aorta. http://purl.obolibrary.org/obo/UBERON_0036285 pared del ventrC-culo izquierdo@es|left ventricular wall UBERON:0036288 anterior wall of left ventricle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036288 UBERON:0012254 abdominal aorta artery biolink:AnatomicalEntity mondo An artery that originates from the abdominal aorta http://purl.obolibrary.org/obo/UBERON_0012254 abdominal artery|artery of abdomen MONDO:0015619 non-syndromic urogenital tract malformation biolink:Disease mondo Orphanet:165704 A urogenital tract malformation that is not part of a larger syndrome. ORPHA:165704 http://purl.obolibrary.org/obo/MONDO_0015619 nonsyndromic urogenital tract malformation|isolated urogenital tract malformation|isolated urogenital tract malformation ordo_group_of_disorders MONDO:0015618 obsolete genetic pancreatic disease biolink:Disease mondo Orphanet:165661|UMLS:CN199994 ORPHA:165661|UMLS:CN199994 http://purl.obolibrary.org/obo/MONDO_0015618 ordo_group_of_disorders UBERON:0012253 cervical squamo-columnar junction biolink:AnatomicalEntity mondo Region of cervical epithelium where columnar epithelium of endocervic and the stratified non-keratinising squamous epithelium of the ectocervic meet http://purl.obolibrary.org/obo/UBERON_0012253 squamocolumnar junction of uterine cervix|squamocolumnar junction|squamo-columnar junction of uterine cervix MONDO:0003650 mixed hepatoblastoma biolink:Disease mondo ICDO:8970/3|UMLS:C1334784|NCIT:C7097|DOID:5789 A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component. UMLS:C1334784|DOID:5789|NCIT:C7097 http://purl.obolibrary.org/obo/MONDO_0003650 mixed epithelial and mesenchymal hepatoblastoma MONDO:0003651 macrotrabecular hepatoblastoma biolink:Disease mondo NCIT:C7095|UMLS:C1334543|DOID:5798 A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae. UMLS:C1334543|DOID:5798|NCIT:C7095 http://purl.obolibrary.org/obo/MONDO_0003651 MONDO:0015617 genetic gastro-esophageal disease biolink:Disease mondo UMLS:CN199993|Orphanet:165658 ORPHA:165658|UMLS:CN199993 http://purl.obolibrary.org/obo/MONDO_0015617 ordo_group_of_disorders GO:1902600 proton transmembrane transport biolink:OntologyClass mondo The directed movement of a proton across a membrane. http://purl.obolibrary.org/obo/GO_1902600 ATP hydrolysis coupled proton transport|hydrogen transport|hydrogen ion transport|hydrogen ion transmembrane transport|proton transmembrane transport|passive proton transport, down the electrochemical gradient|hydrogen transmembrane transport|proton transport UBERON:0012252 endocervical epithelium biolink:AnatomicalEntity mondo The glandular epithelium that lines the endocervix. http://purl.obolibrary.org/obo/UBERON_0012252 endocervical glandular epithelium UBERON:0036289 anterior wall of right ventricle biolink:AnatomicalEntity mondo Region of wall of right ventricle which is continuous with the lateral and septal walls of right ventricle. http://purl.obolibrary.org/obo/UBERON_0036289 HGNC:24464 CHST14 biolink:OntologyClass mondo http://identifiers.org/hgnc/24464 MONDO:0015623 cavitary myiasis biolink:Disease mondo SCTID:764811001|ICD10:B87.8|Orphanet:165958 Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. ORPHA:165958|SNOMEDCT:764811001 http://purl.obolibrary.org/obo/MONDO_0015623 ordo_disease MONDO:0015622 wound myiasis biolink:Disease mondo UMLS:C0344061|ICD9:998.89|ICD10:B87.1|Orphanet:165955|SCTID:240880004 ORPHA:165955|SNOMEDCT:240880004|UMLS:C0344061 http://purl.obolibrary.org/obo/MONDO_0015622 traumatic myiasis ordo_disease MONDO:0015621 obsolete rare abdominal surgical disease biolink:Disease mondo UMLS:CN199996|Orphanet:165711 UMLS:CN199996|ORPHA:165711 http://purl.obolibrary.org/obo/MONDO_0015621 ordo_group_of_disorders|obsoletion_candidate MONDO:0015620 syndromic urogenital tract malformation biolink:Disease mondo Orphanet:165707|UMLS:CN226715 A urogenital tract malformation that is part of a larger syndrome. ORPHA:165707|UMLS:CN226715 http://purl.obolibrary.org/obo/MONDO_0015620 syndrome associated with urogenital tract malformation|syndromic urogenital tract malformation|syndrome associated with urogenital tract malformation ordo_group_of_disorders UBERON:0012249 ectocervix biolink:AnatomicalEntity mondo The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium. http://purl.obolibrary.org/obo/UBERON_0012249 ectocervix|portio vaginalis|portio vaginalis cervicis|exocervix|uterine ectocervix|vaginal part of cervix MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly biolink:Disease mondo SCTID:766717008|Orphanet:166002|ICD10:Q77.3|DOID:0070305 Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. SNOMEDCT:766717008|ORPHA:166002|DOID:0070305 http://purl.obolibrary.org/obo/MONDO_0015627 ordo_disease MONDO:0015626 Charcot-Marie-Tooth disease biolink:Disease mondo UMLS:C0007959|ICD9:356.1|GARD:0006034|MESH:D002607|DOID:10595|Orphanet:166|ICD10:G60.0|NCIT:C75467|MedDRA:10034699|OMIMPS:118220 An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. ORPHA:166|NCIT:C75467|MEDDRA:10034699|UMLS:C0007959|DOID:10595|MESH:D002607 http://purl.obolibrary.org/obo/MONDO_0015626 CMT|CMT - Charcot-Marie-Tooth disease|Charcot Marie Tooth disease|hereditary sensorimotor neuropathy|peroneal muscular atrophy|Charcot-Marie-Tooth hereditary neuropathy|Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease|CMT/HMSN|hereditary motor and sensory neuropathy|Charcot Marie Tooth muscular atrophy ordo_group_of_disorders MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism biolink:Disease mondo ICD10:E16.1|Orphanet:165988 Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy. ORPHA:165988 http://purl.obolibrary.org/obo/MONDO_0015625 hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form ordo_group_of_disorders MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism biolink:Disease mondo ICD10:E16.1|Orphanet:165985 ORPHA:165985 http://purl.obolibrary.org/obo/MONDO_0015624 hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form ordo_group_of_disorders MONDO:0003649 esophageal neuroendocrine tumor biolink:Disease mondo UMLS:C1333462|UMLS:C2987260|NCIT:C95616|DOID:5784|Orphanet:506136 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus. DOID:5784|UMLS:C2987260|ORPHA:506136|NCIT:C95616|UMLS:C1333462 http://purl.obolibrary.org/obo/MONDO_0003649 esophagus neuroendocrine tumor|esophagus NET|neuroendocrine neoplasm of esophagus|esophageal NEN|esophageal well differentiated endocrine tumor|esophageal well differentiated endocrine tumor/carcinoma|esophageal neuroendocrine tumor|esophageal neuroendocrine neoplasm|esophageal NET|esophagus neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of esophagus|esophagus neuroendocrine tumor|esophagus neuroendocrine neoplasm|neuroendocrine tumor of esophagus|NEN of esophagus ordo_disease NCBITaxon:11571 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_11571 NCBITaxon:11572 Orthobunyavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_11572 Bunyavirus|Bunyaviruses MONDO:0001048 orbital granuloma biolink:Disease mondo ICD10:H05.11|UMLS:C0155262|SCTID:72776003|COHD:434953|ICD9:376.11|DOID:10499 A granuloma located on the orbit of the eye. DOID:10499|NCIT:C3653|SNOMEDCT:72776003|UMLS:C0155262 http://purl.obolibrary.org/obo/MONDO_0001048 GO:0050863 regulation of T cell activation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/GO_0050863 regulation of T-cell activation|regulation of T-lymphocyte activation|regulation of T lymphocyte activation MONDO:0001047 obsolete adrenal cortical hypofunction biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001047 MONDO:0027676 congenital anomalies of kidney and urinary tract type 2 biolink:Disease mondo OMIM:143400|DOID:0080207 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. http://identifiers.org/omim/143400|DOID:0080207 http://purl.obolibrary.org/obo/MONDO_0027676 congenital anomaly of kidney and urinary tract caused by mutation in TBX18|ureteropelvic junction obstruction|hydronephrosis due to Pujo|congenital anomalies of kidney and urinary tract 2|congenital anomalies of kidney and urinary tract type 2|multicystic renal dysplasia, bilateral|congenital anomalies of kidney and urinary tract 2; CAKUT2|pelviureteric junction obstruction|TBX18 congenital anomaly of kidney and urinary tract|CAKUT2 MONDO:0001046 imperforate anus biolink:Disease mondo SCTID:204731006|MESH:D001006|OMIM:301800|ICD10:Q42.3|GARD:0006769|OMIM:207500|DOID:10488|NCIT:C84784 A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. NCIT:C84784|http://identifiers.org/omim/301800|MESH:D001006|http://identifiers.org/omim/207500|DOID:10488|SNOMEDCT:204731006 http://purl.obolibrary.org/obo/MONDO_0001046 imperforate anus|anal stenosis|anus, imperforate|anorectal malformations|congenital atresia of anus|anal atresia|congenital or infantile occlusion of anus NCBITaxon:482538 Cystoisospora belli organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_482538 Isospora belli MONDO:0001045 intestinal atresia (disease) biolink:Disease mondo ICD10:Q41.1|NCIT:C84790|UMLS:C0021828|HP:0011100|DOID:10486 A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine. NCIT:C84790|UMLS:C0021828|DOID:10486 http://purl.obolibrary.org/obo/MONDO_0001045 atresia of the intestine|intestinal atresia|congenital intestinal atresia GO:0050866 negative regulation of cell activation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cell activation. http://purl.obolibrary.org/obo/GO_0050866 down-regulation of cell activation|down regulation of cell activation|inhibition of cell activation|downregulation of cell activation GO:0050867 positive regulation of cell activation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of activation. http://purl.obolibrary.org/obo/GO_0050867 activation of cell activation|stimulation of cell activation|upregulation of cell activation|up-regulation of cell activation|up regulation of cell activation GO:0050864 regulation of B cell activation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of B cell activation. http://purl.obolibrary.org/obo/GO_0050864 regulation of B lymphocyte activation|regulation of B-cell activation|regulation of B-lymphocyte activation MONDO:0001049 Dressler syndrome biolink:Disease mondo ICD9:411.0|COHD:319038|UMLS:C0152107|DOID:10507|ICD10:I24.1|SCTID:66189004 A pericarditis characterized by inflammation, occurring after injury, located in pericardium. DOID:10507|UMLS:C0152107|SNOMEDCT:66189004 http://purl.obolibrary.org/obo/MONDO_0001049 Dressler syndrome|Dressler's syndrome|postmyocardial infarction syndrome GO:0050865 regulation of cell activation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/GO_0050865 MONDO:0001040 nasopharyngitis biolink:Disease mondo ICD9:472.2|SCTID:47841006|ICD10:J31.1|ICD10:J00|COHD:441321|MESH:D009304|UMLS:C0155826|UMLS:C0027441|NCIT:C34837|DOID:10460 An inflammatory process that affects the nasopharynx. UMLS:C0027441|SNOMEDCT:47841006|MESH:D009304|NCIT:C34837|UMLS:C0155826|DOID:10460 http://purl.obolibrary.org/obo/MONDO_0001040 nasopharynx inflammation|inflammation of nasopharynx|chronic nasopharyngitis GO:0050868 negative regulation of T cell activation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/GO_0050868 down-regulation of T cell activation|down regulation of T cell activation|inhibition of T cell activation|downregulation of T cell activation|negative regulation of T-lymphocyte activation|negative regulation of T lymphocyte activation|negative regulation of T-cell activation GO:0050869 negative regulation of B cell activation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. http://purl.obolibrary.org/obo/GO_0050869 negative regulation of B-cell activation|down-regulation of B cell activation|down regulation of B cell activation|downregulation of B cell activation|inhibition of B cell activation|negative regulation of B-lymphocyte activation|negative regulation of B lymphocyte activation MONDO:0001044 esophageal atresia (disease) biolink:Disease mondo SCTID:26179002|HP:0002032|MESH:D004933|GARD:0006381|ICD10:Q39.0|NCIT:C87072|DOID:10485|ICD9:750.3 A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. MESH:D004933|NCIT:C87072|SNOMEDCT:26179002|DOID:10485 http://purl.obolibrary.org/obo/MONDO_0001044 imperforate esophagus|congenital esophageal atresia|congenital atresia of esophagus|esophageal atresia|congenital imperforate esophagus|oesophageal atresia HGNC:24431 KRT75 biolink:OntologyClass mondo http://identifiers.org/hgnc/24431 UBERON:0036215 anatomical surface region biolink:AnatomicalEntity mondo Material anatomical entity that forms the outermost boundary of an anatomical structure. http://purl.obolibrary.org/obo/UBERON_0036215 UBERON:0036214 rectosigmoid junction biolink:AnatomicalEntity mondo An anatomical junction that is between the sigmoid colon and rectum. http://purl.obolibrary.org/obo/UBERON_0036214 rectosigmoid region MONDO:0001043 obsolete diaphragm disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001043 MONDO:0001042 patellar tendinitis biolink:Disease mondo ICD10:M76.50|DOID:10471|UMLS:C0158317|SCTID:37785001|ICD9:726.64|ICD10:M76.5 A tendinitis that involves the patella. SNOMEDCT:37785001|UMLS:C0158317|DOID:10471 http://purl.obolibrary.org/obo/MONDO_0001042 tendinitis of patella|patellar tendonitis|patella tendinitis MONDO:0025013 non-human primate disease biolink:Disease mondo MESH:D018419|UMLS:C0242634 Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini. UMLS:C0242634|MESH:D018419 http://purl.obolibrary.org/obo/MONDO_0025013 diseases, Primate|disease, Primate|Primate disease UBERON:0036217 coelomic fluid biolink:AnatomicalEntity mondo A bodily fluid that is located in the coelom. http://purl.obolibrary.org/obo/UBERON_0036217 MONDO:0001041 dentin caries biolink:Disease mondo SCTID:442551007|ICD9:521.02|ICD10:K02.1|DOID:10461|UMLS:C0266846 A dental caries that involves the dentine. UMLS:C0266846|SNOMEDCT:442551007|DOID:10461 http://purl.obolibrary.org/obo/MONDO_0001041 compound dental caries|dental caries of dentine|dentin caries, NOS|dentine dental caries|dental caries extending into dentine MONDO:0013037 Giacheti syndrome biolink:Disease mondo MESH:C567864|OMIM:612917|UMLS:C2752043 MESH:C567864|UMLS:C2752043|http://identifiers.org/omim/612917 http://purl.obolibrary.org/obo/MONDO_0013037 Marfanoid habitus and specific language and learning disabilities|Giacheti syndrome MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency biolink:Disease mondo Orphanet:169147|ICD10:D84.1 ORPHA:169147 http://purl.obolibrary.org/obo/MONDO_0015699 immunodeficiency due to a C1, C4, or C2 component complement deficiency|immunodeficiency due to C1, C4, or C2 component complement deficiency|immunodeficiency due to an early component of complement deficiency ordo_disease|clingen MONDO:0013038 CLOVES syndrome biolink:Disease mondo Orphanet:140944|GARD:0010939|ORDO:140944|SCTID:719475006|GARD:10939|OMIM:612918|MESH:C567863|DOID:0080351|ICD10:Q87.3|UMLS:C2752042 CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. SNOMEDCT:719475006|DOID:0080351|ORPHA:140944|MESH:C567863|http://identifiers.org/omim/612918|UMLS:C2752042 http://purl.obolibrary.org/obo/MONDO_0013038 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi|congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities|congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi|CLOVES syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth - vascular malformation - epidermal nevi|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|CLOVE syndrome ordo_malformation_syndrome MONDO:0013035 orofaciodigital syndrome XI biolink:Disease mondo OMIM:612913|ICD10:Q87.0|GARD:0004118|SCTID:718681002|MESH:C557821|Orphanet:141000|DOID:0060381 Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. MESH:C557821|UMLS:C2752048|http://identifiers.org/omim/612913|SNOMEDCT:718681002|DOID:0060381|ORPHA:141000 http://purl.obolibrary.org/obo/MONDO_0013035 orofaciodigital syndrome XI|OFD11|orofaciodigital syndrome XI; OFD11|oral-facial-digital syndrome, Gabrielli type|OFD syndrome 11|orofaciodigital syndrome, Gabrielli type|oral-Facial-digital syndrome with skeletal anomalies|orofaciodigital syndrome type XI|Gabrielli syndrome|oral-facial-digital syndrome type 11|orofaciodigital syndrome 11|oral facial digital syndrome 11|Ofds 11|orofaciodigital syndrome type 11|oral-Facial-digital syndrome, type 11|oral facial digital syndrome type 11 gard_rare|ordo_malformation_syndrome MONDO:0015698 transient hypogammaglobulinemia of infancy biolink:Disease mondo MedDRA:10044388|UMLS:C0272238|Orphanet:169139|DOID:624|NCIT:C27071|ICD10:D80.7|ICD9:279.09|SCTID:88714009 A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span. DOID:624|NCIT:C27071|ORPHA:169139|SNOMEDCT:88714009|MEDDRA:10044388|UMLS:C0272238 http://purl.obolibrary.org/obo/MONDO_0015698 THI|transient hypogammaglobulinemia of infancy ordo_disease MONDO:0013036 Zechi-Ceide syndrome biolink:Disease mondo ICD10:Q87.8|MESH:C567865|UMLS:C2752047|OMIM:612916|Orphanet:217017|GARD:0010582 MESH:C567865|http://identifiers.org/omim/612916|UMLS:C2752047|ORPHA:217017 http://purl.obolibrary.org/obo/MONDO_0013036 occipital atretic cephalocele, unusual facies and large feet|occipital atretic cephalocele, unusual facies, and large feet|Zechi-Ceide syndrome|Zechi Ceide syndrome|occipital atretic cephalocele-unusual facies-large feet syndrome gard_rare|ordo_malformation_syndrome MONDO:0015697 immunoglobulin heavy chain deficiency biolink:Disease mondo UMLS:C0398692|ICD9:279.03|ICD10:D80.8|SCTID:234539005|Orphanet:169110 UMLS:C0398692|ORPHA:169110|SNOMEDCT:234539005 http://purl.obolibrary.org/obo/MONDO_0015697 ordo_disease CL:0002585 retinal blood vessel endothelial cell biolink:Cell mondo A blood vessel endothelial cell that is part of the retina. http://purl.obolibrary.org/obo/CL_0002585 GO:2001233 regulation of apoptotic signaling pathway biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of apoptotic signaling pathway. http://purl.obolibrary.org/obo/GO_2001233 regulation of apoptotic signalling pathway GO:2001234 negative regulation of apoptotic signaling pathway biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. http://purl.obolibrary.org/obo/GO_2001234 negative regulation of apoptotic signalling pathway MONDO:0013039 3M syndrome 2 biolink:Disease mondo OMIM:612921|UMLS:C2752041|MESH:C567862 Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene. MESH:C567862|UMLS:C2752041|http://identifiers.org/omim/612921 http://purl.obolibrary.org/obo/MONDO_0013039 OBSL1 3-M syndrome|3M2|three M syndrome type 2|three M syndrome 2; 3M2|3M syndrome 2|three M syndrome 2|3-M syndrome caused by mutation in OBSL1 GO:2001235 positive regulation of apoptotic signaling pathway biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. http://purl.obolibrary.org/obo/GO_2001235 positive regulation of apoptotic signalling pathway NCBITaxon:47570 Schizotrypanum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_47570 MONDO:0015692 refractory anemia with excess blasts in transformation biolink:Disease mondo UMLS:CN200189|ICDO:9984/3|Orphanet:168960|MedDRA:10038271|ICD9:238.73|UMLS:C0280028|NCIT:C27080|SCTID:110000005|ICD10:D46.3 Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2. UMLS:CN200189|UMLS:C0280028|NCIT:C27080|SNOMEDCT:110000005|MEDDRA:10038271|ORPHA:168960 http://purl.obolibrary.org/obo/MONDO_0015692 RAEB-t ordo_disease MONDO:0013030 dilated cardiomyopathy 1BB biolink:Disease mondo MESH:C567877|DOID:0110458|UMLS:C2752072|ICD10:I42.0|OMIM:612877 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. MESH:C567877|http://identifiers.org/omim/612877|UMLS:C2752072|DOID:0110458 http://purl.obolibrary.org/obo/MONDO_0013030 cardiomyopathy, dilated, type 1Bb|CMD1BB|cardiomyopathy, dilated, 1BB; CMD1BB|familial isolated dilated cardiomyopathy caused by mutation in DSG2|cardiomyopathy, dilated, 1BB|dilated cardiomyopathy type 1BB|DSG2 familial isolated dilated cardiomyopathy MONDO:0015691 hypereosinophilic syndrome biolink:Disease mondo ICDO:9964/3|MESH:D017681|NCIT:C27038|DOID:999|ICD10:D72.1|SCTID:419455006|ICD10:D47.5|GARD:0002804|ICD9:288.3|UMLS:C1540912|Orphanet:168956|EFO:1001467|MedDRA:10048643 Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. MEDDRA:10048643|DOID:999|NCIT:C27038|SNOMEDCT:419455006|UMLS:C1540912|MESH:D017681|ORPHA:168956 http://purl.obolibrary.org/obo/MONDO_0015691 hypereosinophilic disorder|hypereosinophilic disease|eosinophilia|HES|eosinophilic leukocytosis|hypereosinophilic syndrome ordo_group_of_disorders GO:0098805 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0098805 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement biolink:Disease mondo ICD10:D47.1|Orphanet:168950|SCTID:724642009 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. ORPHA:168950|UMLS:C3472621|SNOMEDCT:724642009 http://purl.obolibrary.org/obo/MONDO_0015690 myeloid/lymphoid neoplasm associated with PDGFRB rearrangement ordo_disease GO:0098802 plasma membrane signaling receptor complex biolink:OntologyClass mondo Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. http://purl.obolibrary.org/obo/GO_0098802 GO:0098803 respiratory chain complex biolink:OntologyClass mondo Any protein complex that is part of a respiratory chain. http://purl.obolibrary.org/obo/GO_0098803 MONDO:0015696 Good syndrome biolink:Disease mondo DOID:0060028|Orphanet:169105|GARD:0008622|UMLS:C0221027|SCTID:9893005 Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections. UMLS:C0221027|SNOMEDCT:9893005|DOID:0060028|ORPHA:169105 http://purl.obolibrary.org/obo/MONDO_0015696 thymoma with hypogammaglobulinemia|thymoma-immunodeficiency|immunodeficiency with thymoma|thymoma-immunodeficiency syndrome ordo_disease MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 biolink:Disease mondo OMIM:612900|MESH:C567867|UMLS:C2752061 Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene. MESH:C567867|http://identifiers.org/omim/612900|UMLS:C2752061 http://purl.obolibrary.org/obo/MONDO_0013033 cerebral palsy, spastic quadriplegic, 2|KANK1 spastic quadriplegia|cerebral palsy, spastic quadriplegic, 2; CPSQ2|CPSQ2|spastic quadriplegia caused by mutation in KANK1|cerebral palsy, spastic quadriplegic, type 2 GO:0098800 inner mitochondrial membrane protein complex biolink:OntologyClass mondo Any protein complex that is part of the inner mitochondrial membrane. http://purl.obolibrary.org/obo/GO_0098800 MONDO:0013034 keratosis palmoplantaris striata 2 biolink:Disease mondo MESH:C565102|UMLS:C1852127|OMIM:612908 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene. MESH:C565102|http://identifiers.org/omim/612908|UMLS:C1852127 http://purl.obolibrary.org/obo/MONDO_0013034 keratosis palmoplantaris striata II; PPKS2|striate palmoplantar keratoderma 2|DSP striate palmoplantar keratoderma|keratosis palmoplantaris striata II|keratoderma, palmoplantar, striate form 2|striate palmoplantar keratoderma caused by mutation in DSP|PPKS2|keratosis palmoplantaris striata type 2 MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction biolink:Disease mondo Orphanet:169090|SCTID:717811007|ICD10:D81.8 Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. SNOMEDCT:717811007|ORPHA:169090 http://purl.obolibrary.org/obo/MONDO_0015695 immune dysfunction due to T-cell inactivation due to calcium entry defect ordo_disease GO:0098801 regulation of renal system process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. http://purl.obolibrary.org/obo/GO_0098801 MONDO:0015694 malignant melanoma of the mucosa biolink:Disease mondo Orphanet:168999|UMLS:CN200193|GARD:0012649 A melanoma (disease) that involves the mucosa. UMLS:CN200193|ORPHA:168999 http://purl.obolibrary.org/obo/MONDO_0015694 melanoma (disease) of mucosa|mucosa melanoma|mucosa melanoma (disease) ordo_disease MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal biolink:Disease mondo UMLS:C2752071|MESH:C567876|OMIM:612881 MESH:C567876|http://identifiers.org/omim/612881|UMLS:C2752071 http://purl.obolibrary.org/obo/MONDO_0013031 chromosome 5Q14.3 deletion syndrome, distal|periventricular nodular heterotopia 5|heterotopia, periventricular, associated with chromosome 5Q deletion MONDO:0015693 obsolete composite lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015693 MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 biolink:Disease mondo OMIM:612899 Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene. http://identifiers.org/omim/612899 http://purl.obolibrary.org/obo/MONDO_0013032 susceptibility to idiopathic generalized epilepsy 8|epilepsy, idiopathic generalized, susceptibility to, type 8|epilepsy, idiopathic generalized, susceptibility to, 8; EIG8|EIG8|CASR generalised epilepsy|generalised epilepsy caused by mutation in CASR|epilepsy, idiopathic generalized, susceptibility to, 8 predisposition HGNC:12450 TYRP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12450 MONDO:0001059 gastric lymphoma biolink:Disease mondo NCIT:C4636|ICD9:202.83|SCTID:276811008|DOID:10540|UMLS:C0349532 An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. NCIT:C4636|UMLS:C0349532|SNOMEDCT:276811008|DOID:10540 http://purl.obolibrary.org/obo/MONDO_0001059 lymphoma of stomach|lymphoma of the stomach|gastric lymphoma|primary gastric lymphoma|stomach lymphoma MONDO:0001058 obsolete gastric fundus cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001058 MONDO:0025003 goat disease biolink:Disease mondo UMLS:C0018018|MESH:D015511 Diseases of the domestic or wild goat of the genus Capra. MESH:D015511|UMLS:C0018018 http://purl.obolibrary.org/obo/MONDO_0025003 disease, caprine|caprine disease|goat disease|disease, goat|caprine diseases|diseases, goat|diseases, caprine MONDO:0001057 malignant gastric granular cell tumor biolink:Disease mondo NCIT:C5484|DOID:10536|UMLS:C1334585 A metastasizing granular cell tumor that arises from the stomach. UMLS:C1334585|NCIT:C5484|DOID:10536 http://purl.obolibrary.org/obo/MONDO_0001057 malignant granular cell neoplasm of stomach|malignant granular cell stomach tumor|malignant gastric granular cell neoplasm|malignant gastric granular cell tumor|malignant granular cell stomach neoplasm|malignant granular cell tumor of the stomach|malignant granular cell tumor of stomach|malignant granular cell neoplasm of the stomach GO:0050871 positive regulation of B cell activation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of B cell activation. http://purl.obolibrary.org/obo/GO_0050871 positive regulation of B-lymphocyte activation|up-regulation of B cell activation|positive regulation of B lymphocyte activation|positive regulation of B-cell activation|up regulation of B cell activation|activation of B cell activation|stimulation of B cell activation|upregulation of B cell activation MONDO:0001056 gastric cancer biolink:Disease mondo DC:0000523|ICD10:C16|ICD10:C16.9|ICD9:151|OMIM:613659|GARD:0007704|NCIT:C9331|ICD10:C16.6|DOID:10534|ICD10:C16.5|ICD9:151.9|COHD:443387|ICD10:C16.2|ICD9:151.6|ICD9:151.5|ICD9:151.4 A primary or metastatic malignant neoplasm involving the stomach. http://identifiers.org/omim/613659|NCIT:C9331|DOID:10534 http://purl.obolibrary.org/obo/MONDO_0001056 malignant tumor of body of stomach|malignant tumor of the stomach|gastric neoplasm|malignant tumor of stomach|malignant tumor of lesser curve of stomach|malignant gastric tumor|malignant neoplasm of body of stomach|gastric cancer|gastric cancer, intestinal|stomach cancer|Ca body - stomach|malignant tumor of greater curve of stomach|ca greater curvature of stomach|Ca lesser curvature - stomach|malignant stomach neoplasm|malignant neoplasm of stomach|malignant gastric neoplasm|malignant neoplasm of the stomach|malignant neoplasm of lesser curve of stomach|cancer of stomach GO:0050877 nervous system process biolink:OntologyClass mondo A organ system process carried out by any of the organs or tissues of neurological system. http://purl.obolibrary.org/obo/GO_0050877 neurophysiological process|neurological system process|pan-neural process GO:0050878 regulation of body fluid levels biolink:OntologyClass mondo Any process that modulates the levels of body fluids. http://purl.obolibrary.org/obo/GO_0050878 HGNC:7095 MID1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7095 MONDO:0001051 acute otitis externa biolink:Disease mondo SCTID:30250000|DOID:10518|UMLS:C0149948|ICD9:380.12|MEDGEN:508459 Acute form of otitis externa. SNOMEDCT:30250000|DOID:10518|UMLS:C0149948 http://purl.obolibrary.org/obo/MONDO_0001051 beach ear|acute otitis externa, diffuse|acute swimmer's ear|acute swimmers' ear|acute otitis externa|tank ear|acute bacterial inflammation of external ear|otitis externa, acute NCBITaxon:1639 Listeria monocytogenes organism taxon mondo GC_ID:11|PMID:8782698|PMID:1906732|PMID:17773427 http://purl.obolibrary.org/obo/NCBITaxon_1639 Corynebacterium infantisepticum|Bacterium monocytogenes hominis|Listerella hepatolytica|Bacterium monocytogenes|Erysipelothrix monocytogenes|Corynebacterium parvulum GO:1902623 negative regulation of neutrophil migration biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration. http://purl.obolibrary.org/obo/GO_1902623 down regulation of neutrophil migration|inhibition of neutrophil migration|down-regulation of neutrophil migration|downregulation of neutrophil migration MONDO:0001050 malignant otitis externa biolink:Disease mondo DOID:10516|ICD9:380.14|SCTID:94146005|UMLS:C0155395|ICD10:H60.20|ICD10:H60.2|COHD:437881 An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. UMLS:C0155395|DOID:10516|SNOMEDCT:94146005 http://purl.obolibrary.org/obo/MONDO_0001050 GO:1902624 positive regulation of neutrophil migration biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of neutrophil migration. http://purl.obolibrary.org/obo/GO_1902624 upregulation of neutrophil migration|up regulation of neutrophil migration|activation of neutrophil migration|up-regulation of neutrophil migration GO:1902622 regulation of neutrophil migration biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of neutrophil migration. http://purl.obolibrary.org/obo/GO_1902622 MONDO:0001055 conjunctival pterygium biolink:Disease mondo DOID:10526 DOID:10526 http://purl.obolibrary.org/obo/MONDO_0001055 web eye MONDO:0001054 double pterygium biolink:Disease mondo DOID:10525|SCTID:41564009|ICD9:372.44|UMLS:C0155157|COHD:375549 UMLS:C0155157|SNOMEDCT:41564009|DOID:10525 http://purl.obolibrary.org/obo/MONDO_0001054 UBERON:0036225 respiratory system gland biolink:AnatomicalEntity mondo Any gland that is part os the respiratory system. http://purl.obolibrary.org/obo/UBERON_0036225 NCBITaxon:1637 Listeria organism taxon mondo PMID:8782674|PMID:1713054|PMID:15709360|PMID:9226919|PMID:9542083|PMID:1899799|PMID:10408878|PMID:8427807|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1637 Listerella MONDO:0001053 acute infection of pinna biolink:Disease mondo UMLS:C0155392|DOID:10520|COHD:374947|ICD9:380.11|SCTID:56663002 An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. UMLS:C0155392|DOID:10520|SNOMEDCT:56663002 http://purl.obolibrary.org/obo/MONDO_0001053 MONDO:0001052 chronic fungal otitis externa biolink:Disease mondo COHD:373200|ICD9:380.15|UMLS:C0155396|SCTID:111898002|DOID:10519 Chronic form of otomycosis. UMLS:C0155396|SNOMEDCT:111898002|DOID:10519 http://purl.obolibrary.org/obo/MONDO_0001052 chronic mycotic otitis externa|otomycosis, chronic|chronic otomycosis MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement biolink:Disease mondo Orphanet:168947|SCTID:738527001|ICD10:D47.1|UMLS:C4545381 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. ORPHA:168947|SNOMEDCT:738527001|UMLS:C4545381 http://purl.obolibrary.org/obo/MONDO_0015689 myeloid/lymphoid neoplasm associated with PDGFRA rearrangement ordo_disease MONDO:0013026 subepithelial mucinous corneal dystrophy biolink:Disease mondo MESH:C567547|ICD10:H18.5|DOID:0060454|UMLS:C2748503|Orphanet:98959|SCTID:723582004|OMIM:612867 Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision. SNOMEDCT:723582004|MESH:C567547|http://identifiers.org/omim/612867|ORPHA:98959|UMLS:C2748503|DOID:0060454 http://purl.obolibrary.org/obo/MONDO_0013026 SMCD|subepithelial mucinous corneal dystrophy|corneal dystrophy, subepithelial mucinous; SMCD|corneal dystrophy, subepithelial mucinous ordo_disease MONDO:0013027 posterior amorphous corneal dystrophy biolink:Disease mondo OMIM:612868|UMLS:C2748502|MESH:C567546|Orphanet:98971|SCTID:719296002|DOID:0060452|ICD10:H18.5 Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. MESH:C567546|http://identifiers.org/omim/612868|ORPHA:98971|UMLS:C2748502|DOID:0060452|SNOMEDCT:719296002 http://purl.obolibrary.org/obo/MONDO_0013027 corneal dystrophy, POSTERIOR amorphous|corneal dystrophy, POSTERIOR amorphous; PACD|PACD|posterior amorphous corneal dystrophy|posterior amorphous stromal dystrophy|chromosome 12Q21.33 deletion syndrome ordo_disease MONDO:0015688 myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 biolink:Disease mondo Orphanet:168943 ORPHA:168943 http://purl.obolibrary.org/obo/MONDO_0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 ordo_group_of_disorders MONDO:0013024 chronic thromboembolic pulmonary hypertension biolink:Disease mondo Orphanet:70591|ICD9:415.19|ICD9:416.8|OMIM:612862|GARD:0013124|UMLS:C2363973|MedDRA:10068739|SCTID:233947005 Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure. MEDDRA:10068739|SNOMEDCT:233947005|UMLS:C2363973|http://identifiers.org/omim/612862|ORPHA:70591 http://purl.obolibrary.org/obo/MONDO_0013024 CTEPH|Cteph, Dvt-negative, susceptibility to|pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to ordo_disease|gard_rare MONDO:0015687 chronic eosinophilic leukemia biolink:Disease mondo UMLS:C0346421|MESH:C580364|Orphanet:168940|ICD10:D47.5|SCTID:188733003|MedDRA:10065854 ORPHA:168940|UMLS:C0346421|MEDDRA:10065854|SNOMEDCT:188733003|MESH:C580364 http://purl.obolibrary.org/obo/MONDO_0015687 ordo_disease CL:0002597 smooth muscle cell of bladder biolink:Cell mondo KUPO:0001122 A smooth muscle cell of the bladder. http://purl.obolibrary.org/obo/CL_0002597 MONDO:0015686 primary peritoneal carcinoma (disease) biolink:Disease mondo HP:0030406|NCIT:C40022|ICD10:C48.2|UMLS:CN200184|Orphanet:168829 Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma. ORPHA:168829|NCIT:C40022|UMLS:CN200184 http://purl.obolibrary.org/obo/MONDO_0015686 EOPPC|primary peritoneal carcinoma|primary peritoneal cancer|PPC|serous surface papillary carcinoma|Extra-ovarian primary peritoneal carcinoma|primary peritoneal serous carcinoma ordo_disease MONDO:0013025 chromosome 6q24-q25 deletion syndrome biolink:Disease mondo Orphanet:251056|UMLS:C3150215|NCIT:C36470|ICD10:Q93.5|DOID:0060424|SCTID:719663005|OMIM:612863|UMLS:C4304527|GARD:0003764 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. NCIT:C36470|http://identifiers.org/omim/612863|UMLS:C4304527|UMLS:C3150215|ORPHA:251056|DOID:0060424|SNOMEDCT:719663005 http://purl.obolibrary.org/obo/MONDO_0013025 chromosome 6q25 microdeletion syndrome|monosomy 6q25|del(6q25)|chromosome 6q24-q25 deletion syndrome|6q25 microdeletion syndrome|Del(6)(q25)|deletion 6q25 ordo_malformation_syndrome CL:0002598 bronchial smooth muscle cell biolink:Cell mondo BTO:0004402 http://purl.obolibrary.org/obo/CL_0002598 MONDO:0013028 adenosine monophosphate deaminase deficiency biolink:Disease mondo ICD10:G71.3|SCTID:9105005|Orphanet:45|ICD9:277.2|MESH:C538234 Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. SNOMEDCT:9105005|ORPHA:45|UMLS:C2931781|UMLS:C0268123|MESH:C538234 http://purl.obolibrary.org/obo/MONDO_0013028 myoadenylate deaminase deficiency|AMP deaminase deficiency ordo_disease MONDO:0013029 cerebellar ataxia type 9 biolink:Disease mondo GARD:0010481|UMLS:C3887996|OMIM:612876 http://identifiers.org/omim/612876|UMLS:C3887996 http://purl.obolibrary.org/obo/MONDO_0013029 cerebellar ataxia type 9|spinocerebellar ataxia 9; SCA9|spinocerebellar ataxia type 9|spinocerebellar ataxia 9|SCA9 HGNC:12469 UBA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12469 GO:0098815 modulation of excitatory postsynaptic potential biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of excitatory postsynaptic potential (EPSP). EPSP is a process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. http://purl.obolibrary.org/obo/GO_0098815 MONDO:0015681 childhood disintegrative disorder biolink:Disease mondo ICD10:F84.3|GARD:0006040|NCIT:C97164|UMLS:CN072151|COHD:441535|MedDRA:10008522|SCTID:71961003|Orphanet:168782|UMLS:C0236791 Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia. UMLS:CN072151|UMLS:C0236791|SNOMEDCT:71961003|NCIT:C97164|ORPHA:168782|MEDDRA:10008522 http://purl.obolibrary.org/obo/MONDO_0015681 dementia infantilis|heller syndrome gard_rare|ordo_disease HGNC:7097 MIF biolink:OntologyClass mondo http://identifiers.org/hgnc/7097 MONDO:0015680 obsolete rare pervasive developmental disorder biolink:Disease mondo Orphanet:168778 Rare pervasive developmental disorder. ORPHA:168778 http://purl.obolibrary.org/obo/MONDO_0015680 rare ASD|rare PDD|rare autism spectrum disorder|rare pervasive developmental disorder ordo_group_of_disorders|obsoletion_candidate HGNC:7096 MID2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7096 GO:0098813 nuclear chromosome segregation biolink:OntologyClass mondo The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. http://purl.obolibrary.org/obo/GO_0098813 MONDO:0015685 obsolete peritoneal cystic mesothelioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015685 MONDO:0013022 restless legs syndrome, susceptibility to, 7 biolink:Disease mondo OMIM:612853 http://identifiers.org/omim/612853 http://purl.obolibrary.org/obo/MONDO_0013022 restless legs syndrome, susceptibility to, 7|RLS7|restless legs syndrome, susceptibility to, 7; RLS7 predisposition GO:0050870 positive regulation of T cell activation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T-lymphocyte activation|up-regulation of T cell activation|positive regulation of T lymphocyte activation|positive regulation of T-cell activation|up regulation of T cell activation|activation of T cell activation|stimulation of T cell activation|upregulation of T cell activation MONDO:0015684 obsolete malignant peritoneal mesothelioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015684 MONDO:0013023 orofacial cleft 12 biolink:Disease mondo OMIM:612858|MESH:C567548|UMLS:C2748505 MESH:C567548|http://identifiers.org/omim/612858|UMLS:C2748505 http://purl.obolibrary.org/obo/MONDO_0013023 cleft lip with or without cleft palate, nonsyndromic, 12|orofacial cleft 12|OFC12|orofacial cleft 12; OFC12 GO:0035295 tube development biolink:OntologyClass mondo The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. http://purl.obolibrary.org/obo/GO_0035295 HGNC:12463 UBB biolink:OntologyClass mondo http://identifiers.org/hgnc/12463 GO:0035296 regulation of tube diameter biolink:OntologyClass mondo Any process that modulates the diameter of a tube. http://purl.obolibrary.org/obo/GO_0035296 MONDO:0015683 primary malignant peritoneal tumor biolink:Disease mondo ICD10:C48.2|ICD10:C48.1|Orphanet:168807|ICD10:C45.1|UMLS:CN200181 UMLS:CN200181|ORPHA:168807 http://purl.obolibrary.org/obo/MONDO_0015683 ordo_group_of_disorders MONDO:0013020 narcolepsy 5, susceptibility to biolink:Disease mondo OMIM:612851|UMLS:C2748508 http://identifiers.org/omim/612851|UMLS:C2748508 http://purl.obolibrary.org/obo/MONDO_0013020 narcolepsy 5, susceptibility to; NRCLP5|NRCLP5|narcolepsy 5, susceptibility to predisposition MONDO:0015682 primary peritoneal tumor biolink:Disease mondo Orphanet:168803|UMLS:CN200180 UMLS:CN200180|ORPHA:168803 http://purl.obolibrary.org/obo/MONDO_0015682 ordo_group_of_disorders MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis biolink:Disease mondo OMIM:612852|MESH:C557815|GARD:0010516|UMLS:C2748507|Orphanet:210115|NCIT:C119056 An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. MESH:C557815|http://identifiers.org/omim/612852|UMLS:C2748507|ORPHA:210115|NCIT:C119056 http://purl.obolibrary.org/obo/MONDO_0013021 deficiency of the Interleukin-1 receptor antagonist|DIRA|osteomyelitis, STERILE multifocal, with periostitis and pustulosis|deficiency of interleukin-1 receptor antagonist|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|Interleukin-1 receptor antagonist deficiency|Interleukin 1 receptor antagonist deficiency|osteomyelitis, STERILE multifocal, with periostitis and pustulosis; OMPP|OMPP ordo_disease GO:0050884 neuromuscular process controlling posture biolink:OntologyClass mondo Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts. http://purl.obolibrary.org/obo/GO_0050884 regulation of posture MONDO:0003689 familial hemolytic anemia biolink:Disease mondo MESH:D000745|GARD:0006167|NCIT:C34379|SCTID:42601008|COHD:28396|ICD9:282|ICD10:D58.9|ICD9:282.9|DOID:589 A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. SNOMEDCT:42601008|NCIT:C34379|DOID:589|MESH:D000745 http://purl.obolibrary.org/obo/MONDO_0003689 anemia hemolytic congenital|hereditary hemolytic anemia|congenital hemolytic anemia gard_rare MONDO:0001026 obsolete bacterial infectious disease biolink:Disease mondo A infectious disease involving the Bacteria. http://purl.obolibrary.org/obo/MONDO_0001026 infections, Bacteria|Bacteria infection MONDO:0001025 seminal vesicle chronic gonorrhea biolink:Disease mondo DOID:10399|UMLS:C0153205|SCTID:23975003|ICD9:098.34 Chronic form of gonococcal seminal vesiculitis. DOID:10399|UMLS:C0153205|SNOMEDCT:23975003 http://purl.obolibrary.org/obo/MONDO_0001025 gonococcal seminal vesiculitis, chronic|chronic gonococcal seminal vesiculitis GO:0050885 neuromuscular process controlling balance biolink:OntologyClass mondo Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. http://purl.obolibrary.org/obo/GO_0050885 regulation of balance MONDO:0001024 pneumonic plague biolink:Disease mondo DOID:10398|UMLS:C0524688|SCTID:35339003|ICD9:020.3|ICD9:020.5|ICD9:020.4|ICD10:A20.2 A plague in which the bacteria have infected the lungs. DOID:10398|UMLS:C0524688|SNOMEDCT:35339003 http://purl.obolibrary.org/obo/MONDO_0001024 primary pneumonic plague|secondary pneumonic plague MONDO:0001023 prolymphocytic leukemia biolink:Disease mondo ICDO:9832/3|NCIT:C3181|MESH:D015463|ICD9:204.80|SCTID:110006004|GARD:0011965|DOID:1039|UMLS:C0023486 A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. NCIT:C3181|MESH:D015463|SNOMEDCT:110006004|UMLS:C0023486|DOID:1039 http://purl.obolibrary.org/obo/MONDO_0001023 PLL|prolymphocytic leukemia (B or T-cell)|prolymphocytic leukemia (B or T)|prolymphocytic leukemia MONDO:0003685 retroperitoneal germ cell neoplasm biolink:Disease mondo NCIT:C6447|DOID:5874|UMLS:C1335776 A germ cell tumor that involves the retroperitoneal space. UMLS:C1335776|DOID:5874|NCIT:C6447 http://purl.obolibrary.org/obo/MONDO_0003685 germ cell tumor of retroperitoneum|retroperitoneal germ cell tumor|germ cell neoplasm of the retroperitoneum|germ cell neoplasm of retroperitoneum|germ cell tumor of the retroperitoneum MONDO:0003686 apocrine sweat gland neoplasm biolink:Disease mondo NCIT:C6798|UMLS:C1332318|DOID:5876 A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma. UMLS:C1332318|DOID:5876|NCIT:C6798 http://purl.obolibrary.org/obo/MONDO_0003686 neoplasm of apocrine sweat gland|apocrine sweat gland neoplasm (disease)|apocrine sweat gland tumor|apocrine tumor|apocrine neoplasm of skin|apocrine skin neoplasm|apocrine skin tumor|apocrine neoplasm of the skin|tumor of apocrine sweat gland|apocrine tumor of skin|apocrine neoplasm|apocrine tumor of the skin MONDO:0001029 Klippel-Feil syndrome biolink:Disease mondo OMIMPS:118100|SCTID:5601008|MESH:D007714|GARD:0010280|ICD9:756.16|ICD10:Q76.1|NCIT:C98967|DOID:10426 Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. MESH:D007714|NCIT:C98967|DOID:10426|SNOMEDCT:5601008 http://purl.obolibrary.org/obo/MONDO_0001029 autosomal dominant Klippel-Feil syndrome|cervical vertebral fusion|congenital synostosis of cervical vertebrae|Klippel-Feil and Turner syndrome|congenital dystrophia brevicollis|Klippel-Feil Sequence|Klippel-Feil deformity, deafness and facial asymmetry|Klippel Feil syndrome gard_rare MONDO:0001028 acute pericementitis biolink:Disease mondo DOID:10423|SCTID:21638000|NCIT:C34354|COHD:132943|ICD9:523.33|ICD9:523.3|UMLS:C0001342 An acute inflammatory process that affects the tissues that surround and support the teeth. DOID:10423|UMLS:C0001342|SNOMEDCT:21638000|NCIT:C34354 http://purl.obolibrary.org/obo/MONDO_0001028 acute periodontitis|periodontitis, acute MONDO:0003687 endocardium cancer biolink:Disease mondo NCIT:C4570|DOID:5877|UMLS:C0346612|SCTID:363436001 A malignant neoplasm involving the endocardium. NCIT:C4570|UMLS:C0346612|SNOMEDCT:363436001|DOID:5877 http://purl.obolibrary.org/obo/MONDO_0003687 endocardium cancer|malignant endocardial neoplasm|malignant tumor of the endocardium|malignant tumor of endocardium|malignant endocardium neoplasm|malignant neoplasm of endocardium|malignant endocardial tumor|cancer of endocardium|malignant neoplasm of the endocardium GO:0050886 endocrine process biolink:OntologyClass mondo The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://purl.obolibrary.org/obo/GO_0050886 endocrine physiology|endocrine physiological process HGNC:24415 BOLA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/24415 MONDO:0003688 well differentiated papillary mesothelioma biolink:Disease mondo NCIT:C7635|UMLS:C1337012|ICDO:9052/1|DOID:5884 A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma. DOID:5884|UMLS:C1337012|NCIT:C7635 http://purl.obolibrary.org/obo/MONDO_0003688 well-differentiated papillary neoplasm of the mesothelium|well-differentiated papillary neoplasm of mesothelium|well-differentiated papillary tumor of the mesothelium|well differentiated papillary mesothelioma|well-differentiated papillary tumor of mesothelium|benign intermediate mesothelioma|benign/Intermediate mesothelioma|WDPM|well-differentiated mesothelial papillary neoplasm|well-differentiated mesothelial papillary tumor MONDO:0001027 gonococcal seminal vesiculitis biolink:Disease mondo DOID:10400|SCTID:301990003|UMLS:C0578661 A gonorrhea that involves the seminal vesicle. DOID:10400|SNOMEDCT:301990003|UMLS:C0578661 http://purl.obolibrary.org/obo/MONDO_0001027 gonorrhea of seminal vesicle|seminal vesicle gonorrhea|gonococcal seminal vesiculitis (acute) GO:2001259 positive regulation of cation channel activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cation channel activity. http://purl.obolibrary.org/obo/GO_2001259 positive regulation of nonselective cation channel activity|positive regulation of cation diffusion facilitator activity MONDO:0003681 myxoid chondrosarcoma biolink:Disease mondo ICDO:9231/3|DOID:5861|NCIT:C4303|ONCOTREE:MYCHS|UMLS:C0334551 A chondrosarcoma characterized by the presence of myxoid changes. UMLS:C0334551|DOID:5861|NCIT:C4303 http://purl.obolibrary.org/obo/MONDO_0003681 myxoid chondrosarcoma|MYCHS MONDO:0003682 localized chondrosarcoma biolink:Disease mondo UMLS:C0855011|DOID:5862|NCIT:C8778 A non-disseminated skeletal or extraskeletal chondrosarcoma. UMLS:C0855011|DOID:5862|NCIT:C8778 http://purl.obolibrary.org/obo/MONDO_0003682 localized chondrosarcoma|chondrosarcoma, localized MONDO:0003683 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003683 MONDO:0003684 clear cell chondrosarcoma biolink:Disease mondo DOID:5867|NCIT:C6475|ICDO:9242/3|UMLS:C1266167 A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones. UMLS:C1266167|DOID:5867|NCIT:C6475 http://purl.obolibrary.org/obo/MONDO_0003684 clear cell chondrosarcoma|clear cell chondrosarcoma (morphologic abnormality) MONDO:0001022 disuse amblyopia biolink:Disease mondo UMLS:C0152189|SCTID:193638002|ICD9:368.02|DOID:10378|ICD10:H53.01 DOID:10378|UMLS:C0152189|SNOMEDCT:193638002 http://purl.obolibrary.org/obo/MONDO_0001022 deprivation amblyopia MONDO:0001021 ametropic amblyopia biolink:Disease mondo COHD:381017|ICD9:368.03|SCTID:90927000|ICD10:H53.02|UMLS:C0152190|DOID:10377 DOID:10377|UMLS:C0152190|SNOMEDCT:90927000 http://purl.obolibrary.org/obo/MONDO_0001021 refractive amblyopia MONDO:0001020 amblyopia (disease) biolink:Disease mondo NCIT:C118764|SCTID:387742006|CSP:1114-9655|HP:0000646|COHD:376981|ICD10:H53.00|UMLS:C0002418|ICD9:368.00|DOID:10376 Decreased vision that results from abnormal visual development. DOID:10376|SNOMEDCT:387742006|UMLS:C0002418|NCIT:C118764 http://purl.obolibrary.org/obo/MONDO_0001020 amblyopia|lazy eye MONDO:0003680 periosteal chondrosarcoma biolink:Disease mondo DOID:5859|DOID:5866|UMLS:C0334549|ICDO:9221/3|NCIT:C7357 A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling. UMLS:C0334549|DOID:5866|DOID:5859|NCIT:C7357 http://purl.obolibrary.org/obo/MONDO_0003680 juxtacortical chondrosarcoma|chondrosarcoma (disease) of periosteum|periosteal chondrosarcoma|juxtacortical chondrosarcoma (morphologic abnormality)|periosteum chondrosarcoma (disease) MONDO:0013015 Brugada syndrome 5 biolink:Disease mondo DOID:0110222|UMLS:C2748541|OMIM:612838|ICD10:I49.8 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene. http://identifiers.org/omim/612838|DOID:0110222|UMLS:C2748541 http://purl.obolibrary.org/obo/MONDO_0013015 BRGDA5|Brugada syndrome 5|Cardiac conduction defect, nonspecific|SCN1B Brugada syndrome|Brugada syndrome type 5|Brugada syndrome 5; BRGDA5|Brugada syndrome caused by mutation in SCN1B MONDO:0015678 dysplasia of head of femur, Meyer type biolink:Disease mondo UMLS:C4274970|Orphanet:168621|ICD10:Q78.8|SCTID:715861004 Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. ORPHA:168621|UMLS:C4274970|SNOMEDCT:715861004 http://purl.obolibrary.org/obo/MONDO_0015678 ordo_disease GO:2001251 negative regulation of chromosome organization biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization. http://purl.obolibrary.org/obo/GO_2001251 negative regulation of nuclear genome maintenance|negative regulation of maintenance of genome integrity|negative regulation of chromosome organization and biogenesis|negative regulation of chromosome organisation MONDO:0013016 leukocyte adhesion deficiency 3 biolink:Disease mondo Orphanet:99844|OMIM:612840|DOID:0110912|UMLS:C2748536|MESH:C567555|ICD10:D84.8 Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder. DOID:0110912|MESH:C567555|ORPHA:99844|http://identifiers.org/omim/612840|UMLS:C2748536 http://purl.obolibrary.org/obo/MONDO_0013016 leukocyte adhesion deficiency type 3|lad-III|IADD|leukocyte adhesion deficiency caused by mutation in FERMT3|lad-1 variant|leukocyte adhesion deficiency, type 3|leukocyte adhesion deficiency type III|leukocyte adhesion deficiency, type III|LAD1V|LAD1 variant|leukocyte adhesion deficiency, type III; LAD3|integrin activation deficiency disease|leukocyte adhesion deficiency-1 variant|FERMT3 leukocyte adhesion deficiency|integrin Activation deficiency disease|leukocyte adhesion deficiency 1 variant|LAD3|leukocyte adhesion deficiency 3 ordo_clinical_subtype GO:2001252 positive regulation of chromosome organization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of chromosome organization. http://purl.obolibrary.org/obo/GO_2001252 positive regulation of nuclear genome maintenance|positive regulation of chromosome organisation|positive regulation of chromosome organization and biogenesis|positive regulation of maintenance of genome integrity MONDO:0015677 cardiac diverticulum (disease) biolink:Disease mondo GARD:0001094|HP:0100571|UMLS:CN226726|ICD10:Q24.8|Orphanet:1686 Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. UMLS:CN226726|ORPHA:1686 http://purl.obolibrary.org/obo/MONDO_0015677 Cardiac diverticulum ordo_morphological_anomaly MONDO:0013013 question mark ears, isolated biolink:Disease mondo OMIM:612798 http://identifiers.org/omim/612798 http://purl.obolibrary.org/obo/MONDO_0013013 auricular cleft, congenital|question mark ears, isolated|question MARK ears, isolated; QME|Cosman deformity of the auricle|QME|ears, prominent and constricted MONDO:0015676 obsolete hyperandrogenism due to cortisone reductase deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015676 MONDO:0015675 distomatosis biolink:Disease mondo SCTID:26089000|ICD9:121.9|Orphanet:1685|GARD:0001891|ICD9:121.8 Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines. ORPHA:1685|SNOMEDCT:26089000 http://purl.obolibrary.org/obo/MONDO_0015675 distomiasis|fluke infection ordo_disease|gard_rare MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type biolink:Disease mondo UMLS:C2748544|GARD:0010513|SCTID:719165004|MESH:C567558|ICD10:Q77.7|Orphanet:171866|OMIM:612813 Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. ORPHA:171866|MESH:C567558|http://identifiers.org/omim/612813|UMLS:C2748544|SNOMEDCT:719165004 http://purl.obolibrary.org/obo/MONDO_0013014 SEMD, aggrecan type|SEMDAG|spondyloepimetaphyseal dysplasia, aggrecan type; SEMDAG|spondyloepimetaphyseal dysplasia, aggrecan type ordo_disease|gard_rare MONDO:0013019 obsolete spondyloepimetaphyseal dysplasia, Pakistani type biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013019 MONDO:0013017 hypotrichosis 5 biolink:Disease mondo UMLS:C2748535|OMIM:612841|DOID:0110702|MESH:C567554 A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3. MESH:C567554|http://identifiers.org/omim/612841|UMLS:C2748535|DOID:0110702 http://purl.obolibrary.org/obo/MONDO_0013017 hypotrichosis 5|HYPT5|Muhh2|hypotrichosis type 5|Marie Unna hereditary hypotrichosis 2|hypotrichosis 5; HYPT5|hypt5 GO:2001257 regulation of cation channel activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cation channel activity. http://purl.obolibrary.org/obo/GO_2001257 regulation of nonselective cation channel activity|regulation of cation diffusion facilitator activity MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant biolink:Disease mondo UMLS:C2748527|OMIM:612843|MESH:C567553 MESH:C567553|http://identifiers.org/omim/612843|UMLS:C2748527 http://purl.obolibrary.org/obo/MONDO_0013018 keratosis follicularis SPINULOSA decalvans, autosomal dominant; KFSD|keratosis follicularis spinulosa decalvans, autosomal dominant|KFSD MONDO:0015679 autosomal thrombocytopenia with normal platelets biolink:Disease mondo ICD10:D69.4|Orphanet:168629|UMLS:CN200175 ORPHA:168629|UMLS:CN200175 http://purl.obolibrary.org/obo/MONDO_0015679 ordo_etiological_subtype GO:2001258 negative regulation of cation channel activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cation channel activity. http://purl.obolibrary.org/obo/GO_2001258 negative regulation of cation diffusion facilitator activity|negative regulation of nonselective cation channel activity MONDO:0015670 obsolete cardiomyopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015670 ENVO:00000128 dry valley biolink:OntologyClass mondo A valley that no longer has a surface flow of water. Typically found in either Karst (limestone) or chalk terrain. http://purl.obolibrary.org/obo/ENVO_00000128 MONDO:0013011 atrial heart septal defect 5 biolink:Disease mondo ICD10:Q21.1|DOID:0110110|UMLS:C2748552|MESH:C567561|OMIM:612794 Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene. MESH:C567561|http://identifiers.org/omim/612794|UMLS:C2748552|DOID:0110110 http://purl.obolibrary.org/obo/MONDO_0013011 ACTC1 atrial heart septal defect|atrial septal defect 5|atrial heart septal defect caused by mutation in ACTC1|atrial heart septal defect type 5|ASD5|atrial septal defect 5; ASD5|atrial septal defect type 5 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis biolink:Disease mondo Orphanet:168491|ICD10:E75.4|SCTID:14637005 Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. SNOMEDCT:14637005|UMLS:C0022340|ORPHA:168491 http://purl.obolibrary.org/obo/MONDO_0015674 dollinger-Bielschowsky syndrome|Jansky-Bielschowsky disease|amaurotic idiocy, early juvenile type|late infantile neuronal ceroid lipofuscinosis|amaurotic idiocy early juvenile type|LINCL|Bielschowsky-jansky disease|late infantile NCL|late-infantile neuronal ceroid lipofuscinosis|dollinger-Bielschowsky type neuronal ceroid lipofuscinosis|Bielschowsky-jansky type neuronal ceroid lipofuscinosis|amaurotic idiocy, late infantile type|amaurotic idiocy late infantile type ordo_disease GO:0050880 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0050880 MONDO:0015673 obsolete rare cardiac tumor biolink:Disease mondo Orphanet:168194 Any of the forms of heart neoplasm that have a rare incidence. ORPHA:168194 http://purl.obolibrary.org/obo/MONDO_0015673 rare heart neoplasm obsoletion_candidate|ordo_group_of_disorders MONDO:0013012 inflammatory bowel disease 27 biolink:Disease mondo OMIM:612796|MESH:C567559|DOID:0110902|UMLS:C2748550 An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3 MESH:C567559|http://identifiers.org/omim/612796|UMLS:C2748550|DOID:0110902 http://purl.obolibrary.org/obo/MONDO_0013012 IBD27|inflammatory bowel disease 27; IBD27|inflammatory bowel disease 27|inflammatory bowel disease type 27 MONDO:0015672 diprosopus biolink:Disease mondo GARD:0001876|Orphanet:1681|SCTID:62192003 Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases. SNOMEDCT:62192003|ORPHA:1681 http://purl.obolibrary.org/obo/MONDO_0015672 Diprosopia|craniofacial duplication ordo_morphological_anomaly MONDO:0015671 obsolete diphtheria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015671 MONDO:0013010 autosomal recessive nonsyndromic deafness 71 biolink:Disease mondo OMIM:612789|ICD10:H90.3|UMLS:C2748554|MESH:C567562|DOID:0110522 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3. MESH:C567562|http://identifiers.org/omim/612789|UMLS:C2748554|DOID:0110522 http://purl.obolibrary.org/obo/MONDO_0013010 DFNB71|deafness, autosomal recessive 71; DFNB71|autosomal recessive deafness 71|autosomal recessive nonsyndromic deafness type 71|deafness, autosomal recessive 71 MONDO:0001037 ring corneal ulcer biolink:Disease mondo ICD10:H16.02|ICD9:370.02|SCTID:111520007|UMLS:C0155068|COHD:377563|DOID:10444 DOID:10444|SNOMEDCT:111520007|UMLS:C0155068 http://purl.obolibrary.org/obo/MONDO_0001037 MONDO:0001036 hypopyon biolink:Disease mondo COHD:439018|SCTID:87807004|NCIT:C50593|ICD9:364.05|UMLS:C0020641|ICD10:H20.05|DOID:10443 An accumulation of pus in the anterior chamber of the eye. DOID:10443|UMLS:C0020641|SNOMEDCT:87807004|NCIT:C50593 http://purl.obolibrary.org/obo/MONDO_0001036 GO:0050896 response to stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. http://purl.obolibrary.org/obo/GO_0050896 physiological response to stimulus ENVO:00000134 permafrost biolink:OntologyClass mondo Soil or rock and included ice or organic material at or below the freezing point of water (0 degrees Celsius or 32 degrees Fahrenheit) for two or more years. http://purl.obolibrary.org/obo/ENVO_00000134 Permafrost MONDO:0001035 hypopyon ulcer biolink:Disease mondo ICD10:H16.03|ICD9:370.04|UMLS:C0155070|SCTID:6395007|DOID:10442 DOID:10442|SNOMEDCT:6395007|UMLS:C0155070 http://purl.obolibrary.org/obo/MONDO_0001035 ENVO:00000131 glacial feature biolink:OntologyClass mondo A hydrographic feature characterized by the dominance of snow or ice. http://purl.obolibrary.org/obo/ENVO_00000131 Ice|glacier feature|glacial landform|LandIce|glacer MONDO:0001034 marginal corneal ulcer biolink:Disease mondo DOID:10441|ICD9:370.01|COHD:374931|UMLS:C0155067|SCTID:47398006|ICD10:H16.04 SNOMEDCT:47398006|DOID:10441|UMLS:C0155067 http://purl.obolibrary.org/obo/MONDO_0001034 MONDO:0003696 obsolete meningeal melanocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003696 MONDO:0003697 non-invasive verrucous carcinoma of the penis biolink:Disease mondo UMLS:C1334984|NCIT:C27791|DOID:5907 UMLS:C1334984|DOID:5907|NCIT:C27791 http://purl.obolibrary.org/obo/MONDO_0003697 non-invasive verrucous carcinoma of the penis|non-invasive verrucous carcinoma of penis|penis non-invasive verrucous carcinoma|non-invasive penile verrucous carcinoma MONDO:0003698 penis verrucous carcinoma biolink:Disease mondo UMLS:C1336955|ONCOTREE:VPSCC|NCIT:C6982|DOID:5908 A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present. UMLS:C1336955|DOID:5908|NCIT:C6982 http://purl.obolibrary.org/obo/MONDO_0003698 verrucous carcinoma of the penis|verrucous carcinoma of penis|penis verrucous carcinoma|verrucous squamous carcinoma of penis|verrucous penile squamous cell carcinoma|verrucous penile carcinoma|verrucous squamous carcinoma of the penis|squamous carcinoma of the penis, verrucous type|verrucous penile squamous carcinoma|squamous carcinoma of penis, verrucous type MONDO:0001039 tonsillitis biolink:Disease mondo UMLS:C0040425|UMLS:C0149517|COHD:23220|SCTID:90979004|NCIT:C116006|MESH:D014069|ICD10:J35.01|DOID:10456|ICD9:474.00 Inflammation of the tonsillar tissue. DOID:10456|UMLS:C0149517|MESH:D014069|NCIT:C116006|SNOMEDCT:90979004|UMLS:C0040425 http://purl.obolibrary.org/obo/MONDO_0001039 tonsilitis|chronic tonsillitis|throat infection - tonsillitis|inflammation of tonsil|tonsil inflammation UBERON:0036242 post-embryonic notochord biolink:AnatomicalEntity mondo A notochord that has persisted beyond the embryonic stage. http://purl.obolibrary.org/obo/UBERON_0036242 MONDO:0003699 phobic disorder biolink:Disease mondo SCTID:386810004|ICD10:F40.9|ICD9:300.2|COHD:4304010|DOID:591|EFO:1001908|MESH:D010698|ICD9:300.20|ICD10:F40|NCIT:C35420 An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable. NCIT:C35420|DOID:591|MESH:D010698|SNOMEDCT:386810004 http://purl.obolibrary.org/obo/MONDO_0003699 phobia UBERON:0012292 embryonic cloacal fold biolink:AnatomicalEntity mondo One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly http://purl.obolibrary.org/obo/UBERON_0012292 cloacal fold MONDO:0001038 perforated corneal ulcer biolink:Disease mondo ICD10:H16.07|ICD9:370.06|COHD:376119|UMLS:C0151844|SCTID:46606001|DOID:10445 DOID:10445|UMLS:C0151844|SNOMEDCT:46606001 http://purl.obolibrary.org/obo/MONDO_0001038 MONDO:0003692 adult malignant mesenchymoma biolink:Disease mondo UMLS:C0279548|DOID:5894|NCIT:C7947 A malignant mesenchymoma occurring in adults. UMLS:C0279548|DOID:5894|NCIT:C7947 http://purl.obolibrary.org/obo/MONDO_0003692 malignant mesenchymoma of adults|adult malignant mesenchymoma|malignant mesenchymoma GO:1902645 tertiary alcohol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of tertiary alcohol. http://purl.obolibrary.org/obo/GO_1902645 tertiary alcohol anabolism|tertiary alcohol synthesis|tertiary alcohol formation|tertiary alcohol biosynthesis UBERON:0012299 mucosa of urethra biolink:AnatomicalEntity mondo A mucosa that is part of a urethra. http://purl.obolibrary.org/obo/UBERON_0012299 tunica mucosa urethrae|mucous membrane of urethra|urethral mucosa UBERON:0036244 secretion of serous membrane biolink:AnatomicalEntity mondo A transudate found in the serous sac. http://purl.obolibrary.org/obo/UBERON_0036244 serous sac fluid|serous fluid MONDO:0003693 clear cell cystadenofibroma biolink:Disease mondo UMLS:C1377853|DOID:5895|NCIT:C8988 A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells. UMLS:C1377853|DOID:5895|NCIT:C8988 http://purl.obolibrary.org/obo/MONDO_0003693 clear cell cystadenofibroma UBERON:0036243 vaginal fluid biolink:AnatomicalEntity mondo Fluid that lines the vaginal walls that consists of multiple secretions that collect in the vagina from different glands. http://purl.obolibrary.org/obo/UBERON_0036243 vaginal discharge|vaginal secretion MONDO:0003694 ovarian clear cell cystadenofibroma biolink:Disease mondo UMLS:C1518695|DOID:5896|NCIT:C40086 A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures. NCIT:C40086|DOID:5896|UMLS:C1518695 http://purl.obolibrary.org/obo/MONDO_0003694 ovarian clear cell cystadenofibroma|ovary clear cell cystadenofibroma|clear cell cystadenofibroma of ovary UBERON:0036245 parenchyma of mammary gland biolink:AnatomicalEntity mondo Parenchymal tissue that consists of the alveoli, grape-like clusters where milk is stored, and branching ducts, which are tubular canals carrying gladular secretions. http://purl.obolibrary.org/obo/UBERON_0036245 mammary gland parenchyma|parenchyma of lactiferous gland|lactiferous gland parenchyma MONDO:0003695 ovarian clear cell adenofibroma biolink:Disease mondo NCIT:C40085|UMLS:C1518694|DOID:5897 An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma. NCIT:C40085|DOID:5897|UMLS:C1518694 http://purl.obolibrary.org/obo/MONDO_0003695 ovarian clear cell adenofibroma|clear cell adenofibroma of ovary|ovary clear cell adenofibroma GO:1902644 tertiary alcohol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving tertiary alcohol. http://purl.obolibrary.org/obo/GO_1902644 tertiary alcohol metabolism UBERON:0036248 joint of auditory ossicle biolink:AnatomicalEntity mondo Any synovial joint that connects auditory ossicles. http://purl.obolibrary.org/obo/UBERON_0036248 auditory ossicle joint|joint of auditory ossicles|auditory ossicles joint MONDO:0001033 mycotic corneal ulcer biolink:Disease mondo UMLS:C0155071|DOID:10440|SCTID:397977001|ICD10:H16.06|ICD9:370.05 DOID:10440|SNOMEDCT:397977001|UMLS:C0155071 http://purl.obolibrary.org/obo/MONDO_0001033 MONDO:0001032 Mooren ulcer biolink:Disease mondo ICD9:370.07|UMLS:C0155072|ICD10:H16.05|DOID:10439|SCTID:22440001|Orphanet:519408 UMLS:C0155072|ORPHA:519408|SNOMEDCT:22440001|DOID:10439 http://purl.obolibrary.org/obo/MONDO_0001032 Mooren's ulcer ordo_disease MONDO:0003690 adult anaplastic ependymoma biolink:Disease mondo UMLS:C0280787|NCIT:C8269|DOID:5890 An anaplastic ependymoma occurring in adults. NCIT:C8269|DOID:5890|UMLS:C0280787 http://purl.obolibrary.org/obo/MONDO_0003690 malignant adult ependymoma|adult malignant ependymoma|anaplastic ependymoma of adults|anaplastic ependymoma|adult anaplastic ependymoma MONDO:0001031 purulent acute otitis media biolink:Disease mondo SCTID:194281003|COHD:439264|DOID:10435|ICD9:382.02|UMLS:C0271431 Acute form of suppurative otitis media. UMLS:C0271431|SNOMEDCT:194281003|DOID:10435 http://purl.obolibrary.org/obo/MONDO_0001031 acute suppurative otitis media|suppurative otitis media, acute MONDO:0001030 keratoconus, stable condition biolink:Disease mondo ICD10:H18.61|ICD9:371.61|DOID:10428|COHD:380110|SCTID:193844000|UMLS:C0155131 SNOMEDCT:193844000|UMLS:C0155131|DOID:10428 http://purl.obolibrary.org/obo/MONDO_0001030 stable condition keratoconus MONDO:0003691 childhood malignant mesenchymoma biolink:Disease mondo DOID:5893|NCIT:C8097|UMLS:C0279991 A malignant mesenchymoma occurring in children. UMLS:C0279991|NCIT:C8097|DOID:5893 http://purl.obolibrary.org/obo/MONDO_0003691 childhood malignant mesenchymoma|malignant mesenchymoma|pediatric malignant mesenchymoma|malignant mesenchymoma of childhood|pediatric malignant mesenchymoma MONDO:0013004 hypotonia, seizures, and precocious puberty biolink:Disease mondo OMIM:612777|UMLS:C2748586|MESH:C567566 MESH:C567566|http://identifiers.org/omim/612777|UMLS:C2748586 http://purl.obolibrary.org/obo/MONDO_0013004 hypotonia, seizures, and precocious puberty CL:0002573 Schwann cell biolink:Cell mondo CALOHA:TS-0898|BTO:0001220 A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function. http://purl.obolibrary.org/obo/CL_0002573 MONDO:0015667 unclassified acute myeloid leukemia biolink:Disease mondo Orphanet:167714|NCIT:C27753|GARD:0012760 Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. NCIT:C27753|ORPHA:167714 http://purl.obolibrary.org/obo/MONDO_0015667 AML, NOS|acute myeloid leukemia not otherwise specified|acute myeloid leukemia, NOS|unclassified AML|acute myeloid leukemia NOS|acute myeloid leukemia not otherwise categorized|acute myeloid leukemia gard_rare|ordo_group_of_disorders MONDO:0013005 EAST syndrome biolink:Disease mondo DOID:0060484|UMLS:C2748572|Orphanet:199343|GARD:0010514|OMIM:612780|SCTID:721207002|MESH:C557674 SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). ORPHA:199343|SNOMEDCT:721207002|DOID:0060484|MESH:C557674|http://identifiers.org/omim/612780|UMLS:C2748572 http://purl.obolibrary.org/obo/MONDO_0013005 epilepsy, ataxia, sensorineural deafness and tubulopathy|sesame syndrome|seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance|seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance|EAST syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SESAMES|seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance|seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance; SESAMES|SESAMES ordo_disease MONDO:0015666 familial idiopathic dilatation of the right atrium (disease) biolink:Disease mondo SCTID:716773002|ICD10:Q20.8|UMLS:CN200093|Orphanet:1677 Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. UMLS:CN200093|SNOMEDCT:716773002|ORPHA:1677 http://purl.obolibrary.org/obo/MONDO_0015666 ordo_morphological_anomaly MONDO:0015665 scleromyxedema biolink:Disease mondo UMLS:C0263390|UMLS:CN200092|MESH:D053718|SCTID:402468007|MedDRA:10055046|Orphanet:167635|ICD9:701.8|NCIT:C85061|ICD10:L98.5|GARD:0007615 Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation. SNOMEDCT:402468007|MEDDRA:10055046|ORPHA:167635|UMLS:CN200092|MESH:D053718|UMLS:C0263390|NCIT:C85061 http://purl.obolibrary.org/obo/MONDO_0015665 lichen myxedematosus|generalized lichenoid papular eruption|generalized papular and sclerodermoid|Scleromyxedema|generalized papular and sclerodermoid lichen myxedematosus|Arndt-Gottron disease|myxedematosus, lichen|scleromyxoedema|papular mucinosis|mucinosis, papular gard_rare|ordo_disease MONDO:0013002 cone-rod dystrophy 9 biolink:Disease mondo OMIM:612775|UMLS:C1423873|DOID:0111020 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene. http://identifiers.org/omim/612775|UMLS:C1423873|DOID:0111020 http://purl.obolibrary.org/obo/MONDO_0013002 cone-rod dystrophy 9|cone-rod dystrophy 9; CORD9|CORD9|ADAM9 cone-rod dystrophy|cone-rod dystrophy caused by mutation in ADAM9|cone-rod dystrophy type 9 CL:0002575 central nervous system pericyte biolink:Cell mondo A pericyte of the central nervous system. http://purl.obolibrary.org/obo/CL_0002575 CL:0002574 stromal cell of pancreas biolink:Cell mondo A stromal cell of the pancreas. http://purl.obolibrary.org/obo/CL_0002574 MONDO:0013003 isolated congenital hypoglossia/aglossia biolink:Disease mondo Orphanet:141152|OMIM:612776|UMLS:C2748587|ICD10:Q38.3 Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS). ORPHA:141152|http://identifiers.org/omim/612776|UMLS:C2748587 http://purl.obolibrary.org/obo/MONDO_0013003 hypoglossia with situs inversus|hypoglossia, isolated ordo_morphological_anomaly MONDO:0015664 idiopathic pulmonary artery dilatation biolink:Disease mondo Orphanet:1676|ICD10:E25.7|GARD:0006757 Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases. ORPHA:1676 http://purl.obolibrary.org/obo/MONDO_0015664 idiopathic dilatation of the pulmonary artery ordo_disease|gard_rare MONDO:0013008 combined immunodeficiency due to STIM1 deficiency biolink:Disease mondo UMLS:C2748557|MESH:C557827|GARD:0010523|ICD10:D81.8|Orphanet:317430|OMIM:612783 Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. MESH:C557827|ORPHA:317430|http://identifiers.org/omim/612783|UMLS:C2748557 http://purl.obolibrary.org/obo/MONDO_0013008 immunodeficiency 10|CID due to STIM1 deficiency|immunodeficiency 10; IMD10|STIM1 deficiency|immune dysfunction with T-cell inactivation due to calcium entry defect 2|IMD10|immunodeficiency type 10 ordo_clinical_subtype MONDO:0013009 Megarbane-Jalkh syndrome biolink:Disease mondo UMLS:C2748555|GARD:0010689|MESH:C548071|OMIM:612785 UMLS:C2748555|http://identifiers.org/omim/612785|MESH:C548071 http://purl.obolibrary.org/obo/MONDO_0013009 developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure|Megarbane Jalkh syndrome|Megarbane-Jalkh syndrome|developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure gard_rare CL:0002576 perineural cell biolink:Cell mondo A myofibroblast that lies in the connective tissue of the spinal cord that has a distinctly lamellar arrangement. http://purl.obolibrary.org/obo/CL_0002576 HGNC:12449 TYROBP biolink:OntologyClass mondo http://identifiers.org/hgnc/12449 MONDO:0013006 isolated growth hormone deficiency type IB biolink:Disease mondo Orphanet:231671|OMIM:612781|GARD:0003919|ICD10:E23.0|UMLS:C2748571|DOID:0060874|MESH:C567564 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. DOID:0060874|ORPHA:231671|MESH:C567564|http://identifiers.org/omim/612781|UMLS:C2748571 http://purl.obolibrary.org/obo/MONDO_0013006 IGHD 1B|congenital isolated GH deficiency type IB|isolated growth hormone deficiency type 1B|isolated growth hormone deficiency, type IB|IGHD IB|isolated Growth hormone deficiency, type 1B|congenital IGHD type IB|IGHD1B|dwarfism of Sindh|congenital isolated growth hormone deficiency type IB|isolated growth hormone deficiency, type IB; IGHD1B ordo_clinical_subtype|gard_rare MONDO:0015669 rare disease with dentinogenesis imperfecta biolink:Disease mondo Orphanet:167762 ORPHA:167762 http://purl.obolibrary.org/obo/MONDO_0015669 obsoletion_candidate|ordo_group_of_disorders MONDO:0015668 hereditary dentin defect biolink:Disease mondo Orphanet:167759|ICD10:K00.5 The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. ORPHA:167759 http://purl.obolibrary.org/obo/MONDO_0015668 ordo_group_of_disorders MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency biolink:Disease mondo Orphanet:317428|ICD10:D81.8|UMLS:C2748568|MESH:C557826|GARD:0010524|OMIM:612782 A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis. MESH:C557826|ORPHA:317428|http://identifiers.org/omim/612782|UMLS:C2748568 http://purl.obolibrary.org/obo/MONDO_0013007 IMD9|immunodeficiency 9; IMD9|CID due to ORAI1 deficiency|immune dysfunction with T-cell inactivation due to calcium entry defect 1|immunodeficiency 9|immunodeficiency type 9 ordo_clinical_subtype MONDO:0013000 porphyria due to ALA dehydratase deficiency biolink:Disease mondo OMIM:612740|Orphanet:100924|GARD:0004445|MESH:C562618|ICD10:E80.2 Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations. MESH:C562618|ORPHA:100924|http://identifiers.org/omim/612740 http://purl.obolibrary.org/obo/MONDO_0013000 aminolevulinate dehydratase deficiency porphyria|porphyria, ALAD|porphyria of Doss|ALAD deficiency|porphobilinogen synthase deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|Delta-aminolevulinate dehydratase deficiency|Doss porphyria|ALA dehydratase deficiency pophyria|5-aminolevulinic acid dehydratase deficiency porphyria|Lead poisoning, susceptibility to|ALAD porphyria|porphyria, acute hepatic|porphyria due to ALAD deficiency gard_rare|ordo_disease MONDO:0015663 diencephalic syndrome biolink:Disease mondo GARD:0006276|NCIT:C116955|ICD10:C72.8|UMLS:CN200089|SCTID:237733001|UMLS:C0271889|UMLS:C0342436|Orphanet:1672|ICD9:253.8 Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors. UMLS:CN200089|UMLS:C0271889|ORPHA:1672|NCIT:C116955|UMLS:C0342436|SNOMEDCT:237733001 http://purl.obolibrary.org/obo/MONDO_0015663 diencephalic syndrome of emaciation|Russell diencephalic cachexia|diencephalic cachexia|Russell syndrome|diencephalic syndrome of infancy|diencephalic syndrome of childhood gard_rare|ordo_disease HGNC:12442 TYR biolink:OntologyClass mondo http://identifiers.org/hgnc/12442 MONDO:0013001 obsolete synesthesia biolink:Disease mondo OMIM:612759|MESH:C562460 MESH:C562460|http://identifiers.org/omim/612759 http://purl.obolibrary.org/obo/MONDO_0013001 synesthesia|Synsth GO:0050892 intestinal absorption biolink:OntologyClass mondo Any process in which nutrients are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/GO_0050892 MONDO:0015662 hemorrhagic disorder due to an acquired coagulation factor defect biolink:Disease mondo Orphanet:166775|UMLS:CN226721 ORPHA:166775|UMLS:CN226721 http://purl.obolibrary.org/obo/MONDO_0015662 rare bleeding disorder due to an acquired coagulation factor defect|rare coagulopathy due to an acquired coagulation factor defect obsoletion_candidate|ordo_group_of_disorders MONDO:0015661 dextrocardia (disease) biolink:Disease mondo GARD:0001827|COHD:4100815|SCTID:27637000|Orphanet:1666|MedDRA:10012592|MONDO:0004823|NCIT:C84669|ICD10:Q24.0|MESH:D003914|ICD9:746.87|HP:0001651|DOID:9565 A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. DOID:9565|NCIT:C84669|MESH:D003914|MEDDRA:10012592|ORPHA:1666|UMLS:C0265863|UMLS:C0011813|SNOMEDCT:27637000 http://purl.obolibrary.org/obo/MONDO_0015661 heart predominantly in right hemithorax|dextrocardia gard_rare|ordo_morphological_anomaly HGNC:12440 TYK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/12440 CL:0002571 hepatic mesenchymal stem cell biolink:Cell mondo A mesenchymal stem cell of liver. http://purl.obolibrary.org/obo/CL_0002571 GO:0050890 cognition biolink:OntologyClass mondo The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory. http://purl.obolibrary.org/obo/GO_0050890 MONDO:0015660 sporadic fetal brain disruption sequence biolink:Disease mondo ICD10:Q02|UMLS:CN237425|Orphanet:1665|SCTID:763717004 Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. SNOMEDCT:763717004|ORPHA:1665|UMLS:CN237425 http://purl.obolibrary.org/obo/MONDO_0015660 ordo_malformation_syndrome CHEBI:76924 plant metabolite biolink:ChemicalSubstance mondo Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms. http://purl.obolibrary.org/obo/CHEBI_76924 plant secondary metabolites|plant metabolites HP:0020129 Abnormal urine protein level biolink:PhenotypicFeature mondo Any deviation of the concentration of one or more proteins in the urine. http://purl.obolibrary.org/obo/HP_0020129 UBERON:0012321 deep cervical artery biolink:AnatomicalEntity mondo The deep cervical artery (Profunda cervicalis) is an artery of the neck. http://purl.obolibrary.org/obo/UBERON_0012321 profunda cervicalis UBERON:0012320 cervical artery biolink:AnatomicalEntity mondo An artery of the neck http://purl.obolibrary.org/obo/UBERON_0012320 UBERON:0012317 vagina orifice biolink:AnatomicalEntity mondo The median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice http://purl.obolibrary.org/obo/UBERON_0012317 introitus|introitus of vagina|vagina opening|vaginal orifice|ostium vaginae|orifice of vagina|opening of vagina|introitus|vaginal introitus UBERON:0000344 mucosa biolink:AnatomicalEntity mondo A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] http://purl.obolibrary.org/obo/UBERON_0000344 tunica mucosa|mucous membrane|organ mucosa|mucosa of organ part|region of mucosa|mucosal region|mucosa of organ HGNC:12530 UGT1A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12530 UBERON:0000341 throat biolink:AnatomicalEntity mondo In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0000341 gula CHEBI:76932 pathway inhibitor biolink:ChemicalSubstance mondo An enzyme inhibitor that interferes with one or more steps in a metabolic pathway. http://purl.obolibrary.org/obo/CHEBI_76932 pathway inhibitors|metabolic pathway inhibitors|metabolic pathway inhibitor UBERON:0000325 gastric gland biolink:AnatomicalEntity mondo The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. http://purl.obolibrary.org/obo/UBERON_0000325 UBERON:0000326 pancreatic juice biolink:AnatomicalEntity mondo Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach. http://purl.obolibrary.org/obo/UBERON_0000326 pancreatic secretion|succus pancreaticus|pancreatic fluid HGNC:24525 MMACHC biolink:OntologyClass mondo http://identifiers.org/hgnc/24525 HGNC:24526 ATL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/24526 UBERON:0000328 gut wall biolink:AnatomicalEntity mondo The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). http://purl.obolibrary.org/obo/UBERON_0000328 wall of digestive tract|wall of gut|digestive tract wall|wall of alimentary tract UBERON:0036301 vasculature of spleen biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036301 UBERON:0036300 tributary of central retinal vein biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036300 central retinal venous tributary UBERON:0012314 embryonic facial prominence biolink:AnatomicalEntity mondo One of five swellings formed during the development of the face http://purl.obolibrary.org/obo/UBERON_0012314 primordium of face|facial primordium|embryonic facial process UBERON:0036303 vasculature of central nervous system biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036303 UBERON:0036302 vasculature of central nervous system plus retina biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036302 UBERON:0012313 1st arch maxillary ectoderm biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012313 ectoderm of maxillary component UBERON:0036304 anatomical border biolink:AnatomicalEntity mondo An anatomical structure that is located along the line dividing two regions of an anatomical structure. http://purl.obolibrary.org/obo/UBERON_0036304 CHEBI:25340 methylpyridines biolink:ChemicalSubstance mondo Any member of the class of pyridines that carries at least one methyl substituent. http://purl.obolibrary.org/obo/CHEBI_25340 CHEBI:37325 alloxazine biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37325 Alloxazin|alloxazine|benzo[g]pteridine-2,4(1H,3H)-dione CHEBI:37326 benzo[g]pteridine-2,4-dione biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37326 benzo[g]pteridine-2,4-dione CHEBI:37323 7,8-dimethylisoalloxazine biolink:ChemicalSubstance mondo A 7,8-dimethylbenzo[g]pteridine-2,4-dione that is isoalloxazine substituted by methyl groups at positions 7 and 8. http://purl.obolibrary.org/obo/CHEBI_37323 dimethylisoalloxazine|7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione CHEBI:37324 7,8-dimethylbenzo[g]pteridine-2,4-dione biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37324 7,8-dimethylbenzo[g]pteridine-2,4-dione CHEBI:37327 isoalloxazine biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37327 benzo[g]pteridine-2,4(3H,10H)-dione UBERON:0000332 yellow bone marrow biolink:AnatomicalEntity mondo bone marrow in which the fat cells predominate in the meshes of the reticular network. http://purl.obolibrary.org/obo/UBERON_0000332 medulla ossium flava|fat marrow|yellow marrow UBERON:0000333 intestinal gland biolink:AnatomicalEntity mondo A gland that is part of the intestinal mucosa. Examples include the intestinal crypts, duodenal gland[cjm]. http://purl.obolibrary.org/obo/UBERON_0000333 gland of bowel mucous membrane|gland of mucosa of organ of intestine|gland of organ mucosa of intestine|bowel mucous membrane gland|gland of intestine mucosa|mucosa of organ of bowel gland|gland of intestine mucosa of organ|glandulae intestinales|gland of mucosa of intestine|gland of intestine organ mucosa|bowel mucosa gland|gland of mucous membrane of bowel|bowel organ mucosa gland|mucous membrane of intestine gland|intestine mucosa of organ gland|organ mucosa of intestine gland|mucosa of intestine gland|gland of intestinal mucosa|gland of intestine mucous membrane|intestinal mucosa gland|gland of mucosa of organ of bowel|mucosa of organ of intestine gland|intestine mucous membrane gland|gland of bowel mucosa of organ|gland of bowel mucosa|gland of organ mucosa of bowel|gland of bowel organ mucosa|intestine mucosa gland|gland of mucosa of bowel|intestine organ mucosa gland|gland of mucous membrane of intestine|glandula intestinalis|mucous membrane of bowel gland|bowel mucosa of organ gland|organ mucosa of bowel gland|mucosa of bowel gland HGNC:24519 TCTN3 biolink:OntologyClass mondo http://identifiers.org/hgnc/24519 UBERON:0000331 ileal mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a ileum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000331 ileum mucosa of organ|organ mucosa of ileum|mucous membrane of ileum|mucosa of ileum|ileal mucous membrane|mucosa of organ of ileum|ileum mucous membrane|ileum mucosa|ileum organ mucosa UBERON:0000314 cecum mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a cecum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000314 intestinum crassum caecum organ mucosa|mucosa of intestinum crassum caecum|caecum mucosa of organ|cecum mucous membrane|mucosa of organ of cecum|cecum organ mucosa|intestinum crassum caecum mucous membrane|mucosa of organ of intestinum crassum caecum|cecal mucosa|caecum mucous membrane|mucosa of organ of caecum|mucosa of caecum|mucous membrane of cecum|cecum mucosa of organ|organ mucosa of cecum|organ mucosa of caecum|mucosa of cecum|caecum mucosa|mucous membrane of caecum|caecum organ mucosa|intestinum crassum caecum mucosa|mucous membrane of intestinum crassum caecum|organ mucosa of intestinum crassum caecum|intestinum crassum caecum mucosa of organ UBERON:0000315 subarachnoid space biolink:AnatomicalEntity mondo The space between the arachnoid and pia mater. http://purl.obolibrary.org/obo/UBERON_0000315 spatium leptomeningeum|spatium subarachnoideum|cavitas subarachnoidea|cavum subarachnoideale|subarachnoid cavity CHEBI:76946 fungal metabolite biolink:ChemicalSubstance mondo Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolites UBERON:0000316 cervical mucus biolink:AnatomicalEntity mondo A substance produced by the cervix and endocervical glands[BTO]. Thick acidic mucus that blocks the cervical os after mestruation[WP]. This 'infertile' mucus blocks spermatozoa from entering the uterus. http://purl.obolibrary.org/obo/UBERON_0000316 cervix mucus UBERON:0000317 colonic mucosa biolink:AnatomicalEntity mondo Mucosa that is part of a colon. The mucosa of the colon is lined by a simple columnar epithelium with a thin brush border and numerous goblet cells. http://purl.obolibrary.org/obo/UBERON_0000317 colonic mucous membrane|colonic mucosa|large bowel mucosa|mucosa of colon|colon mucosa|mucosa of large bowel|colon mucous membrane HGNC:12509 UBQLN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/12509 HP:0010783 Erythema biolink:PhenotypicFeature mondo SNOMEDCT_US:444827008|MSH:D004890|SNOMEDCT_US:271811009|MSH:D005483|SNOMEDCT_US:20255002|UMLS:C0041834|SNOMEDCT_US:70819003|SNOMEDCT_US:238810007|SNOMEDCT_US:247441003|UMLS:C0016382|SNOMEDCT_US:86735004 Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. http://purl.obolibrary.org/obo/HP_0010783 Redness of skin or mucous membrane hposlim_core UBERON:0012303 ureteral orifice biolink:AnatomicalEntity mondo The slit-like opening of either ureter into the bladder; normally, the two ureteral orifices are placed at the posterolateral angles of the urinary bladder trigone while the internal urethral orifice is placed at its anteroinferior angle (apex); wide gaping usually indicates vesicoureteral reflux http://purl.obolibrary.org/obo/UBERON_0012303 ureteral meatus|ostium ureteris|ureterovesical orifice|ureteric ostium|ureteric orifice|orifice of ureter|orificium ureteris|ureteral opening|Mercier's bar HGNC:9647 PTPN14 biolink:OntologyClass mondo http://identifiers.org/hgnc/9647 HGNC:12513 UCHL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12513 UBERON:0000323 late embryo biolink:AnatomicalEntity mondo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/UBERON_0000323 fetus|embryo late growth stage|embryo late stage HGNC:9644 PTPN11 biolink:OntologyClass mondo http://identifiers.org/hgnc/9644 UBERON:0000320 duodenal mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000320 duodenum mucosa|doudenal mucosa|mucosa of duodenum|mucous membrane of duodenum|duodenal mucous membrane HGNC:9642 PTPN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9642 UBERON:0000307 blastula biolink:AnatomicalEntity mondo Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/UBERON_0000307 blastula embryo|blastosphere ENVO:00002872 bagasse biolink:OntologyClass mondo The biomass remaining after sugarcane stalks are crushed to extract their juice. http://purl.obolibrary.org/obo/ENVO_00002872 sugarcane bagasse HGNC:24502 WDR62 biolink:OntologyClass mondo http://identifiers.org/hgnc/24502 UBERON:0000309 body wall biolink:AnatomicalEntity mondo The external portion of an animal body derived from ectoderm and mesoderm layers that encloses the body cavity. http://purl.obolibrary.org/obo/UBERON_0000309 trunk wall|wall of trunk|wall fo trunk UBERON:0000304 tendon sheath biolink:AnatomicalEntity mondo A layer of membrane around a tendon. It has 2 layers: synovial sheath + fibrous tendon sheath http://purl.obolibrary.org/obo/UBERON_0000304 synovial tendon sheath|vagina tendinis UBERON:0000305 amnion biolink:AnatomicalEntity mondo the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected http://purl.obolibrary.org/obo/UBERON_0000305 amnios HGNC:12519 UCP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/12519 HGNC:12517 UCP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12517 UBERON:0014950 layer of developing cerebral cortex biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014950 UBERON:0000310 breast biolink:AnatomicalEntity mondo The upper ventral region of the torso of an organism. http://purl.obolibrary.org/obo/UBERON_0000310 mammary part of chest|mamma|mammary region HP:0009797 Cholesteatoma biolink:PhenotypicFeature mondo SNOMEDCT_US:363668000|UMLS:C0008373|MSH:D002781|SNOMEDCT_US:575006 Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. http://purl.obolibrary.org/obo/HP_0009797 UBERON:0000313 portion of cartilage tissue in tibia biolink:AnatomicalEntity mondo Cartilage pertaining to the tibia. http://purl.obolibrary.org/obo/UBERON_0000313 tibial cartilage|cartilage of tibia HGNC:9652 PTPN22 biolink:OntologyClass mondo http://identifiers.org/hgnc/9652 MONDO:0003502 ureter squamous cell carcinoma biolink:Disease mondo UMLS:C1336879|NCIT:C6154|DOID:5539 A rare squamous cell carcinoma that arises from the ureter. DOID:5539|NCIT:C6154|UMLS:C1336879 http://purl.obolibrary.org/obo/MONDO_0003502 epidermoid carcinoma of ureter|epidermoid carcinoma of the ureter|ureteral epidermoid carcinoma|ureteral squamous cell carcinoma|squamous cell carcinoma of ureter|ureter squamous cell carcinoma|squamous cell carcinoma of the ureter|ureter epidermoid carcinoma MONDO:0003503 fallopian tube squamous cell carcinoma biolink:Disease mondo NCIT:C6282|DOID:5540|UMLS:C1333596 A rare squamous cell carcinoma that arises from the fallopian tube. DOID:5540|NCIT:C6282|UMLS:C1333596 http://purl.obolibrary.org/obo/MONDO_0003503 fallopian tube squamous cell cancer|squamous cell carcinoma of fallopian tube|fallopian tube squamous cell carcinoma|squamous cell carcinoma of the fallopian tube CHEBI:76967 human xenobiotic metabolite biolink:ChemicalSubstance mondo Any human metabolite produced by metabolism of a xenobiotic compound in humans. http://purl.obolibrary.org/obo/CHEBI_76967 human xenobiotic metabolites MONDO:0003504 anal canal neuroendocrine neoplasm biolink:Disease mondo DOID:5545|NCIT:C5603|SCTID:717917007 A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). DOID:5545|SNOMEDCT:717917007|NCIT:C5603 http://purl.obolibrary.org/obo/MONDO_0003504 anal canal neuroendocrine tumor, well differentiated, low or intermediate grade|anal neuroendocrine tumor|anal neuroendocrine neoplasm|anal canal neuroendocrine tumor|neuroendocrine neoplasm of anus|neuroendocrine neoplasm of the anus|anus neuroendocrine tumor|neuroendocrine tumor of anus|anal canal NET|anal canal neuroendocrine neoplasm|anal canal neuroendocrine tumor|anus neuroendocrine neoplasm|neuroendocrine neoplasm of anal canal MONDO:0003505 femoral cancer biolink:Disease mondo EFO:0007270|DOID:5546|MESH:D005266 A cancer involving a femur. DOID:5546|MESH:D005266 http://purl.obolibrary.org/obo/MONDO_0003505 malignant neoplasm of femur|neoplasm of femur|femoral neoplasm|cancer of femur|femur cancer|malignant femur neoplasm CHEBI:27958 cocaine biolink:ChemicalSubstance mondo A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca. http://purl.obolibrary.org/obo/CHEBI_27958 l-Cocain|Cocain|Kokain|2-methyl-3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester)|(-)-cocaine|beta-Cocain|COCAINE|Cocaine|Benzoylmethylecgonine|methyl benzoylecgonine|[1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester|cocainum|Neurocaine|(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate|l-cocaine|methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|Cocaina UBERON:0012361 internal anal region biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012361 UBERON:0012360 bone of jaw biolink:AnatomicalEntity mondo A bone element that is part of a jaw region. http://purl.obolibrary.org/obo/UBERON_0012360 jaw bone MONDO:0003500 squamous cell bile duct carcinoma biolink:Disease mondo UMLS:C0861861|DOID:5537 A squamous cell carcinoma that involves the bile duct. DOID:5537|UMLS:C0861861 http://purl.obolibrary.org/obo/MONDO_0003500 bile duct squamous cell carcinoma CHEBI:76969 bacterial metabolite biolink:ChemicalSubstance mondo Any prokaryotic metabolite produced during a metabolic reaction in bacteria. http://purl.obolibrary.org/obo/CHEBI_76969 MONDO:0003501 external ear squamous cell carcinoma biolink:Disease mondo UMLS:C1333494|NCIT:C6083|DOID:5538 A squamous cell carcinoma that arises from the skin of the external ear. DOID:5538|NCIT:C6083|UMLS:C1333494 http://purl.obolibrary.org/obo/MONDO_0003501 epidermoid carcinoma of the external ear|epidermoid carcinoma of external Ear|external Ear squamous cell carcinoma|external ear squamous cell carcinoma|epidermoid carcinoma of the external Ear|squamous cell carcinoma of external Ear|squamous cell carcinoma of external ear|squamous cell carcinoma of the external Ear|external Ear epidermoid carcinoma UBERON:0012363 thyroid follicle epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a thyroid follicle. http://purl.obolibrary.org/obo/UBERON_0012363 thryoid epithelium|thyroid follicle epithelium|wall of thyroid follicle|epithelium of thyroid follicle UBERON:0012367 muscle layer of intestine biolink:AnatomicalEntity mondo A muscle layer that is part of an intestine. http://purl.obolibrary.org/obo/UBERON_0012367 intestinal muscularis propria|smooth muscle of intestine|muscularis externa of intestine CHEBI:15966 D-glutamic acid biolink:ChemicalSubstance mondo An optically active form of glutamic acid having D-configuration. http://purl.obolibrary.org/obo/CHEBI_15966 D-glutamic acid|D-Glutaminsaeure|D-Glutamic acid|glutamic acid D-form|DGL|D-Glutaminic acid|D-2-Aminoglutaric acid|(2R)-2-aminopentanedioic acid|(R)-2-aminopentanedioic acid UBERON:0012359 pedal digitopodium bone biolink:AnatomicalEntity mondo A bone that is part of a the pedal digitopodium skeleton - i.e. the toes or the metatarsal skeleton. http://purl.obolibrary.org/obo/UBERON_0012359 bone of hindlimb digitopodium UBERON:0000382 apocrine sweat gland biolink:AnatomicalEntity mondo Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]. http://purl.obolibrary.org/obo/UBERON_0000382 glandula sudorifera apocrina UBERON:0000388 epiglottis biolink:AnatomicalEntity mondo A part of the pharynx that consists of a flap of elastic cartilage tissue plus a mucous membrane covering, attached to the entrance of the larynx. The epiglottis is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink[MP,modified] http://purl.obolibrary.org/obo/UBERON_0000388 UBERON:0000389 lens cortex biolink:AnatomicalEntity mondo Tissue that surrounds the lens nucleus http://purl.obolibrary.org/obo/UBERON_0000389 cortex of lens UBERON:0000383 musculature of body biolink:AnatomicalEntity mondo The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. http://purl.obolibrary.org/obo/UBERON_0000383 vertebrate muscular system|musculature system|muscle system of body|set of all muscles|set of muscles of body|muskelsystem|muscular system|muscle system ECTO:9002148 polycyclic hydrocarbon exposure biolink:OntologyClass mondo An exposure to polycyclic hydrocarbon. http://purl.obolibrary.org/obo/ECTO_9002148 exposure to polycyclic hydrocarbon HGNC:7001 MEIS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7001 HGNC:9666 PTPRC biolink:OntologyClass mondo http://identifiers.org/hgnc/9666 ECTO:9002146 acid exposure biolink:OntologyClass mondo An exposure to acid. http://purl.obolibrary.org/obo/ECTO_9002146 exposure to acid MONDO:0003513 gastric teratoma biolink:Disease mondo NCIT:C5259|UMLS:C1333790|DOID:5561 A mature or immature teratoma that arises from the stomach. NCIT:C5259|UMLS:C1333790|DOID:5561 http://purl.obolibrary.org/obo/MONDO_0003513 teratoma of stomach|stomach teratoma|teratoma of the stomach|gastric teratoma MONDO:0003514 malignant teratoma biolink:Disease mondo DOID:5563 A malignant form of teratoma. DOID:5563 http://purl.obolibrary.org/obo/MONDO_0003514 primary malignant extragonadal teratoma|malignant extragonadal teratoma|teratoma, malignant|immature teratoma MONDO:0003515 fallopian tube teratoma biolink:Disease mondo DOID:5564|UMLS:C1517127|NCIT:C40131 A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally. DOID:5564|UMLS:C1517127|NCIT:C40131 http://purl.obolibrary.org/obo/MONDO_0003515 fallopian tube teratoma MONDO:0003516 adult teratoma biolink:Disease mondo NCIT:C9013|DOID:5565|UMLS:C1368898 A teratoma that occurs in an adult. DOID:5565|UMLS:C1368898|NCIT:C9013 http://purl.obolibrary.org/obo/MONDO_0003516 teratoma|teratoma of adults|adult teratoma, NOS|adult teratoma MONDO:0003510 malignant testicular germ cell tumor biolink:Disease mondo DOID:5556|UMLS:C0855197|NCIT:C9063|ICD9:186.9|SCTID:713646001 A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor. NCIT:C9063|DOID:5556|UMLS:C0855197|SNOMEDCT:713646001 http://purl.obolibrary.org/obo/MONDO_0003510 malignant germ cell tumor of testis|malignant testicular germ cell neoplasm|testicular malignant germ cell cancer|testicular ca. (no germ/tropho.)|malignant germ cell neoplasm of testis|testicular germ cell cancer|malignant germ cell neoplasm of the testis|malignant testicular germ cell tumor|testicular cancer (excluding germ cell or trophoblastic cancer)|testicular cancer|malignant germ cell tumor of the testis MONDO:0003511 obsolete testicular germ cell cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003511 MONDO:0003512 mediastinal mesenchymal tumor biolink:Disease mondo DOID:5560|NCIT:C6637|UMLS:C1334669 A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma. NCIT:C6637|UMLS:C1334669|DOID:5560 http://purl.obolibrary.org/obo/MONDO_0003512 mediastinal soft tissue neoplasm|soft tissue tumor of mediastinum|soft tissue tumor of the mediastinum|mediastinal soft tissue tumor|soft tissue neoplasm of the mediastinum|soft tissue neoplasm of mediastinum UBERON:0012354 acropodium region biolink:AnatomicalEntity mondo The segment of the autopod that is distal to the metapodial region and consists of the digits. http://purl.obolibrary.org/obo/UBERON_0012354 set of digits|acropodial segment of autopod|acropodial limb segment|acropodial region UBERON:0012353 fin skeleton biolink:AnatomicalEntity mondo Skeletal subdivision consisting of all the skeletal elements in a single fin. http://purl.obolibrary.org/obo/UBERON_0012353 skeleton of fin UBERON:0012351 urachal lumen biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a urachus. http://purl.obolibrary.org/obo/UBERON_0012351 urachus lumen UBERON:0012358 manual digitopodium bone biolink:AnatomicalEntity mondo A bone that is part of a the manual digitopodium skeleton - i.e. the fingers or the metacarpal skeleton. http://purl.obolibrary.org/obo/UBERON_0012358 bone of forelimb digitopodium UBERON:0012357 digitopodium bone biolink:AnatomicalEntity mondo A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. http://purl.obolibrary.org/obo/UBERON_0012357 digit bone UBERON:0012356 pedal acropodium region biolink:AnatomicalEntity mondo The segment of the pes that is distal to the metatarsal region and consists of the pedal digits (toes). http://purl.obolibrary.org/obo/UBERON_0012356 acropodial region of pes|digits of foot|toes set|all toes|toes|acropodial segment of pes|set of toes|acropodial forelimb segment|pedal acropodium region UBERON:0012355 manual acropodium region biolink:AnatomicalEntity mondo The segment of the manus that is distal to the metacarpal region and consists of the manual digits (fingers). http://purl.obolibrary.org/obo/UBERON_0012355 anterior acropodium segment of limb|anterior acropodium region|manual acropodium|set of fingers|manual acropodium region|digits of hand|acropodial segment of manus|anterior acropodium|acropodial hindlimb segment|fingers set|all fingers|set of digits of hand|acropodial region of manus|fingers including thumb|digiti manus|manual acropodium segment of limb HGNC:9678 PTPRO biolink:OntologyClass mondo http://identifiers.org/hgnc/9678 CHEBI:64996 EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitor biolink:ChemicalSubstance mondo A lipoxygenase inhibitor that interferes with the action of arachidonate 15-lipoxygenase (EC 1.13.11.33). http://purl.obolibrary.org/obo/CHEBI_64996 linoleic acid omega(6)-lipoxygenase inhibitors|linoleic acid omega(6)-lipoxygenase inhibitor|EC 1.13.11.33 inhibitors|arachidonate:oxygen 15-oxidoreductase inhibitors|15-LOX inhibitor|arachidonate 15-lipoxygenase inhibitor|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitor|EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitors|omega(6) lipoxygenase inhibitors|15-lipoxygenase inhibitor|15-lipoxygenase inhibitors|omega(6) lipoxygenase inhibitor|arachidonate:oxygen 15-oxidoreductase inhibitor|15-LOX inhibitors|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitors|arachidonate 15-lipoxygenase inhibitors|EC 1.13.11.33 inhibitor CHEBI:15956 biotin biolink:ChemicalSubstance mondo An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins. http://purl.obolibrary.org/obo/CHEBI_15956 cis-Tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid|D-(+)-biotin|biotina|cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid|5-(2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl)pentanoic acid|Coenzyme R|(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid|5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid|(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-d]imidazole-4-valeric acid|Vitamin H|D-Biotin|cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid|biotinum|Biotin|BIOTIN|biotine|vitamin B7 HGNC:9679 PTPRQ biolink:OntologyClass mondo http://identifiers.org/hgnc/9679 HGNC:12502 SUMO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12502 UBERON:0000376 hindlimb stylopod biolink:AnatomicalEntity mondo The part of the hindlimb between pelvis and the knee, corresponding to the femur. http://purl.obolibrary.org/obo/UBERON_0000376 upper leg|hind propodium|hindlimb stylopodium|hind limb stylopod|proximal segment of free lower limb|stylopod of hindlimb|stylopod of hind limb|femur|thigh|stylopod of lower limb|hind limb stylopodium|hindlimb propodium|hindlimb stylopod NCBITaxon:120793 Mycobacterium avium complex (MAC) organism taxon mondo GC_ID:11|PMID:30231956|PMID:9103630|PMID:1581195|PMID:8347508 http://purl.obolibrary.org/obo/NCBITaxon_120793 MAC UBERON:0000377 maxillary nerve biolink:AnatomicalEntity mondo The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses. http://purl.obolibrary.org/obo/UBERON_0000377 second division of trigeminal nerve|nervus maxillaris [v2]|nervus maxillaris [vb]|nervus maxillaris (Vb; V2)|ramus maxillaris (ramus V2)|maxillary division [V2]|maxillary division [Vb]|n. maxillaris|maxillary nerve [Vb]|maxillary nerve [V2]|trigeminal nerve maxillary division|second division of fifth cranial nerve|trigeminal V nerve maxillary division|maxillary division of fifth cranial nerve|maxillary division of trigeminal nerve (Vb; V2)|nervus maxillaris UBERON:0000378 tongue muscle biolink:AnatomicalEntity mondo The muscular portion of the tongue. http://purl.obolibrary.org/obo/UBERON_0000378 muscle organ of tongue|muscle of tongue|tongue skeletal muscle|skeletal muscle tissue of tongue|tongue skeletal muscle tissue|musculi linguae HGNC:9670 PTPRF biolink:OntologyClass mondo http://identifiers.org/hgnc/9670 UBERON:0000379 tracheal mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a respiratory airway. http://purl.obolibrary.org/obo/UBERON_0000379 mucosa of windpipe|organ mucosa of windpipe|mucous membrane of windpipe|trachea mucosa|trachea organ mucosa|windpipe mucosa of organ|windpipe mucosa|windpipe organ mucosa|organ mucosa of trachea|mucous membrane of trachea|trachea mucosa of organ|mucosa of trachea|tracheal mucous membrane|tunica mucosa tracheae|tunica mucosa (tracheae)|windpipe mucous membrane|mucosa of organ of trachea|mucosa of organ of windpipe|trachea mucous membrane HGNC:7010 MEN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7010 MONDO:0003506 pulmonary artery choriocarcinoma biolink:Disease mondo DOID:5547|UMLS:C1335571|NCIT:C5381 A rare choriocarcinoma that arises from a pulmonary artery. DOID:5547|NCIT:C5381|UMLS:C1335571 http://purl.obolibrary.org/obo/MONDO_0003506 choriocarcinoma of pulmonary artery|choriocarcinoma of the pulmonary artery|syncytioma of pulmonary artery|pulmonary artery choriocarcinoma (disease)|syncytioma of the pulmonary artery|pulmonary artery chorioepithelioma|pulmonary artery syncytioma|pulmonary artery choriocarcinoma|chorioepithelioma of pulmonary artery|chorioepithelioma of the pulmonary artery HGNC:7013 MEOX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7013 MONDO:0003507 choriocarcinoma of ovary biolink:Disease mondo SCTID:254870004|UMLS:C0346181|NCIT:C4515|DOID:5550|EFO:1000413 A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma. DOID:5550|NCIT:C4515|UMLS:C0346181|SNOMEDCT:254870004 http://purl.obolibrary.org/obo/MONDO_0003507 ovarian choriocarcinoma|germ cell choriocarcinoma of the ovary|germ cell choriocarcinoma of ovary|ovarian germ cell choriocarcinoma|choriocarcinoma of the ovary|choriocarcinoma of ovary|ovary choriocarcinoma (disease) MONDO:0003508 choriocarcinoma of testis biolink:Disease mondo EFO:1000564|UMLS:C0238449|NCIT:C7733|DOID:5551|ONCOTREE:TCCA A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. UMLS:C0238449|DOID:5551|NCIT:C7733 http://purl.obolibrary.org/obo/MONDO_0003508 testicular choriocarcinoma|choriocarcinoma|choriocarcinoma of testis|choriocarcinoma of the testis|testis choriocarcinoma (disease) CHEBI:76971 Escherichia coli metabolite biolink:ChemicalSubstance mondo Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. http://purl.obolibrary.org/obo/CHEBI_76971 Escherichia coli metabolites|E.coli metabolites|E.coli metabolite UBERON:0000375 mandibular nerve biolink:AnatomicalEntity mondo The motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini. http://purl.obolibrary.org/obo/UBERON_0000375 n. mandibularis|mandibular nerve [V3]|mandibular nerve [Vc]|mandibular division of fifth cranial nerve|third division of trigeminal nerve|trigeminal nerve mandibular division|inferior maxillary nerve|mandibular division of trigeminal nerve [Vc; V3]|third division of fifth cranial nerve|nervus mandibularis [v3]|nervus mandibularis [vc]|ramus mandibularis (ramus V3)|nervus mandibularis [Vc; V3]|nervus mandibularis|trigeminal V nerve mandibular division|mandibular division [V3]|mandibular division [Vc] MONDO:0003509 pineal region choriocarcinoma biolink:Disease mondo DOID:5553|UMLS:C1335414|NCIT:C6759 A choriocarcinoma (disease) that involves the pineal body. DOID:5553|NCIT:C6759|UMLS:C1335414 http://purl.obolibrary.org/obo/MONDO_0003509 choriocarcinoma of the pineal region|choriocarcinoma of pineal region|choriocarcinoma of the pineal area|choriocarcinoma of pineal area|pineal choriocarcinoma|pineal area choriocarcinoma CHEBI:27933 beta-lactam antibiotic biolink:ChemicalSubstance mondo An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring. http://purl.obolibrary.org/obo/CHEBI_27933 beta-lactam antibiotics|beta-Lactam antibiotics UBERON:0000358 blastocyst biolink:AnatomicalEntity mondo The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. http://purl.obolibrary.org/obo/UBERON_0000358 blastocystis|blastula ECTO:9002130 food preservative exposure biolink:OntologyClass mondo An exposure to food preservative. http://purl.obolibrary.org/obo/ECTO_9002130 exposure to food preservative UBERON:0012344 holocrine gland biolink:AnatomicalEntity mondo any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. http://purl.obolibrary.org/obo/UBERON_0012344 HGNC:7027 MERTK biolink:OntologyClass mondo http://identifiers.org/hgnc/7027 HGNC:9689 PTS biolink:OntologyClass mondo http://identifiers.org/hgnc/9689 UBERON:0012337 cauda equina biolink:AnatomicalEntity mondo The cauda equina is a structure within the lower end of the spinal column of most vertebrates, that consists of nerve roots and rootlets from above. The space in which the cerebrospinal fluid is present is actually an extension of the subarachnoid space. http://purl.obolibrary.org/obo/UBERON_0012337 filum terminale HGNC:7029 MET biolink:OntologyClass mondo http://identifiers.org/hgnc/7029 UBERON:0000365 urothelium biolink:AnatomicalEntity mondo An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. http://purl.obolibrary.org/obo/UBERON_0000365 transitional epithelium|epithelium transitionale|uroepithelium|transitional epithelium UBERON:0000366 flexor muscle biolink:AnatomicalEntity mondo a skeletal muscle whose contraction bends a joint. http://purl.obolibrary.org/obo/UBERON_0000366 flexor UBERON:0000362 renal medulla biolink:AnatomicalEntity mondo the inner portion of the kidney consisting of the renal pyramids http://purl.obolibrary.org/obo/UBERON_0000362 medullary pyramids|renal pyramids set|renal pyramids|medulla of kidney|renal medullae set|medulla renalis|renal medullae|kidney medulla|pyramides renales|renal marrow HGNC:9688 CAVIN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9688 HGNC:9685 PTPRZ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9685 UBERON:0000348 ophthalmic nerve biolink:AnatomicalEntity mondo The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead. http://purl.obolibrary.org/obo/UBERON_0000348 ophthalmic division|ethmoidal nerve|trigeminal nerve ophthalmic division|profundus nerve|ophthalmic division of fifth cranial nerve|first division of trigeminal nerve|first division of fifth cranial nerve|ophthalmic division of trigeminal nerve (V1)|ophthalmic division of trigeminal nerve (Va)|profundal nerve|nervus ophthalmicus [v1]|opthalmic nerve|nervus ophthalmicus [va]|ramus opthalmicus profundus (ramus V1)|trigeminal V nerve ophthalmic division|nervus ophthalmicus (V1)|nervus ophthalmicus (Va)|first branch of fifth cranial nerve|cranial nerve V, branch V1|ophthalmic nerve [Va]|ophthalmic nerve [V1]|profundus|ophthalmic division [V1]|ophthalmic division [Va]|ciliary nerve|rostral branch of trigeminal nerve UBERON:0000349 limbic system biolink:AnatomicalEntity mondo A set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. http://purl.obolibrary.org/obo/UBERON_0000349 visceral brain UBERON:0012332 broad ligament of uterus biolink:AnatomicalEntity mondo A broad fold of peritoneum that extends from the side of the uterus to the wall of the pelvis. http://purl.obolibrary.org/obo/UBERON_0012332 broad uterine ligament|broad ligament|ligamentum latum uteri HP:0032101 Unusual infection biolink:PhenotypicFeature mondo A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. http://purl.obolibrary.org/obo/HP_0032101 UBERON:0012330 nasal-associated lymphoid tissue biolink:AnatomicalEntity mondo The lymphocytic cell population present in the mucosa of the nasopharyngeal duct of some animals. http://purl.obolibrary.org/obo/UBERON_0012330 NALT|naso-pharyngeal lymphoid tissue UBERON:0012336 perianal skin biolink:AnatomicalEntity mondo A zone of skin that is part of the area surrounding the anus. http://purl.obolibrary.org/obo/UBERON_0012336 skin of perianal area UBERON:0012329 keratinized stratified squamous epithelium biolink:AnatomicalEntity mondo Keratinized stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesize and accumulate keratin. http://purl.obolibrary.org/obo/UBERON_0012329 epithelium stratificatum squamosum cornificatum UBERON:0000355 pharyngeal mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000355 organ mucosa of pharynx|pharynx mucosa of organ|mucous membrane of pharynx|mucosa of pharynx|tunica mucosa pharyngea|mucous membrane of the pharynx|pharynx mucous membrane|tunica mucosa pharyngis|mucosa of organ of pharynx|pharynx mucosa|pharynx organ mucosa ECTO:9002131 flame retardant exposure biolink:OntologyClass mondo An exposure to flame retardant. http://purl.obolibrary.org/obo/ECTO_9002131 exposure to flame retardant UBERON:0000353 parenchyma biolink:AnatomicalEntity mondo functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. http://purl.obolibrary.org/obo/UBERON_0000353 UBERON:0002916 central sulcus biolink:AnatomicalEntity mondo The central sulcus is a fold in the cerebral cortex of brains in vertebrates. Also called the central fissure, it was originally called the fissure of Rolando or the Rolandic fissure, after Luigi Rolando. The central sulcus is a prominent landmark of the brain, separating the parietal lobe from the frontal lobe and the primary motor cortex from the primary somatosensory cortex. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002916 CS|central cerebral sulcus|central sulcus of Rolando|central fissure|sulcus centralis cerebri|fissure of Rolando|rolandic fissure|sulcus of Rolando|sulcus centralis|sulcus centralis (rolandi) ENVO:01000703 hydrological precipitation process biolink:OntologyClass mondo Hydrological precipitation is a process during which any product of the condensation of atmospheric water vapour is pulled to the planetary surface by gravity. http://purl.obolibrary.org/obo/ENVO_01000703 precipitation HP:0010719 Abnormality of hair texture biolink:PhenotypicFeature mondo UMLS:C4073290|UMLS:C4072881|UMLS:C4023722|UMLS:C4072880 An abnormality of the texture of the hair. http://purl.obolibrary.org/obo/HP_0010719 Abnormality of hair curl pattern|Abnormality of hair volume|Abnormality of hair consistency|Abnormality of hair texture NCBITaxon:1485 Clostridium organism taxon mondo PMID:27488356|GC_ID:11|PMID:26643615 http://purl.obolibrary.org/obo/NCBITaxon_1485 Anaerobacter ENVO:01000739 habitat biolink:OntologyClass mondo An environmental system which can sustain and allow the growth of an ecological population. http://purl.obolibrary.org/obo/ENVO_01000739 HP:0010702 Increased circulating antibody level biolink:PhenotypicFeature mondo MSH:D006942|UMLS:C0541985|SNOMEDCT_US:129646001|UMLS:C1306857|SNOMEDCT_US:127388009|UMLS:C2048011|UMLS:C0151669|UMLS:C0020455 An increased level of gamma globulin (immunoglobulin) in the blood. http://purl.obolibrary.org/obo/HP_0010702 Increased gamma globulin|Increased antibody level in blood|Elevated immunoglobulin levels|Raised immunoglobulin levels|Increased serum gamma globulin|Increased immunoglobulin level|Hypergammaglobulinaemia|Hyperglobulinemia|Hypergammaglobulinemia HP:0010701 Abnormal immunoglobulin level biolink:PhenotypicFeature mondo UMLS:C1855755 An abnormal deviation from normal levels of immunoglobulins in blood. http://purl.obolibrary.org/obo/HP_0010701 Abnormal serum immunoglobulin levels|Abnormal serum immunoglobulin concentration|Abnormal serum level of immunoglobulin|Immunoglobulin abnormality|Abnormal immunoglobulin concentration NCBITaxon:1491 Clostridium botulinum organism taxon mondo PMID:15244052|PMID:10028279|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium putrificum|Pacinia putrifica|Botulobacillus botulinus|Bacillus putrificus|Bacillus botulinus|Ermengemillus botulinus ENVO:01000724 condensation process biolink:OntologyClass mondo Condensation is a process during which a gas undergoes a phase transition into a liquid. http://purl.obolibrary.org/obo/ENVO_01000724 NCBITaxon:1496 Clostridioides difficile organism taxon mondo PMID:23834245|PMID:27902176|GC_ID:11|PMID:27370902 http://purl.obolibrary.org/obo/NCBITaxon_1496 Clostridium difficile|Clostridium difficle|Bacillus difficilis|Peptoclostridium difficile HP:0009714 Abnormality of the epididymis biolink:PhenotypicFeature mondo UMLS:C4024222 An abnormality of the epididymis. http://purl.obolibrary.org/obo/HP_0009714 CHEBI:50336 4-hydroxybenzyl group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50336 4-hydroxybenzyl|tyrosine side-chain CHEBI:50334 pyridinium ion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50334 pyridinium ions UBERON:0002956 granular layer of cerebellar cortex biolink:AnatomicalEntity mondo The granular layer is the innermost layer of the cerebellar cortex. This layer contains densely packed small neurons, mostly granule cells. Some Golgi cells are found at the outer border. Granule neurons send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites. Mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons at cerebellar glomeruli in the granule cell layer. http://purl.obolibrary.org/obo/UBERON_0002956 cerebellum granule cell layer|cerebellar granular layer|cerebellum granule layer|granular layer of cerebellum|stratum granulosum corticis cerebelli|cerebellar granule cell layer|granule cell layer of cerebellar cortex|cerebellar granule layer|stratum granulosum cerebelli HP:0010762 Chordoma biolink:PhenotypicFeature mondo SNOMEDCT_US:50007008|MSH:D002817|NCIT:C2947|UMLS:C0008487 A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. http://purl.obolibrary.org/obo/HP_0010762 HP:0010766 Ectopic calcification biolink:PhenotypicFeature mondo UMLS:C3806226 Deposition of calcium salts in a tissue or location in which calcification does not normally occur. http://purl.obolibrary.org/obo/HP_0010766 HP:0010765 Palmar hyperkeratosis biolink:PhenotypicFeature mondo UMLS:C4023710 Hyperkeratosis affecting the palm of the hand. http://purl.obolibrary.org/obo/HP_0010765 HP:0009763 Limb pain biolink:PhenotypicFeature mondo UMLS:C0030196|SNOMEDCT_US:90834002 Chronic pain in the limbs with no clear focal etiology. http://purl.obolibrary.org/obo/HP_0009763 Pain in extremities|Limb pain UBERON:0000301 amniotic cavity biolink:AnatomicalEntity mondo A closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds. http://purl.obolibrary.org/obo/UBERON_0000301 cavitas amniotica BSPO:0005001 intersects_midsagittal_plane_of biolink:OntologyClass mondo X intersects_median_plane of iff X crosses the midine plane of Y. http://purl.obolibrary.org/obo/BSPO_0005001 CHEBI:64909 poison biolink:ChemicalSubstance mondo Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. http://purl.obolibrary.org/obo/CHEBI_64909 toxic substances|toxic agent|poisons|poisonous agent|poisonous agents|toxic substance|toxic agents|poisonous substance|poisonous substances CHEBI:50325 proteinogenic amino-acid side-chain group biolink:ChemicalSubstance mondo A univalent organyl group obtained by cleaving the bond from C-2 to the side chain of a proteinogenic amino-acid. http://purl.obolibrary.org/obo/CHEBI_50325 canonical amino-acid side-chains|proteinogenic amino-acid side-chain|proteinogenic amino-acid side-chain groups|proteinogenic amino-acid side-chains|canonical amino-acid side-chain CHEBI:25389 monohydroxybenzoic acid biolink:ChemicalSubstance mondo Any hydroxybenzoic acid having a single phenolic hydroxy substituent on the benzene ring. http://purl.obolibrary.org/obo/CHEBI_25389 monohydroxybenzoic acids CHEBI:25388 monohydroxybenzoate biolink:ChemicalSubstance mondo A hydroxybenzoate carrying a single hydroxy substituent at unspecified position. http://purl.obolibrary.org/obo/CHEBI_25388 monohydroxybenzoates CHEBI:50329 2-carboxyethyl group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50329 2-carboxyethyl|glutamic acid side-chain UBERON:0014930 perivascular space biolink:AnatomicalEntity mondo The space between a blood vessel and the pia mater. http://purl.obolibrary.org/obo/UBERON_0014930 VRS|perivascular spaces|perivascular region|Virchow-Robin space CHEBI:25384 monocarboxylic acid biolink:ChemicalSubstance mondo An oxoacid containing a single carboxy group. http://purl.obolibrary.org/obo/CHEBI_25384 monocarboxylic acids CHEBI:64911 antimitotic biolink:ChemicalSubstance mondo Any compound that inhibits cell division (mitosis). http://purl.obolibrary.org/obo/CHEBI_64911 mitosis inhibitors|mitotic inhibitors|mitotic inhibitor|mitosis inhibitor|antimitotics CHEBI:50313 onium cation biolink:ChemicalSubstance mondo Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. http://purl.obolibrary.org/obo/CHEBI_50313 onium ion|onium ions|onium cations|onium cations CHEBI:50312 onium compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50312 CHEBI:25355 mitochondrial respiratory-chain inhibitor biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25355 mitochondrial respiratory chain inhibitors|mitochondrial electron-transport chain inhibitor|mitochondrial electron transport chain inhibitors UBERON:2007013 preplacodal ectoderm biolink:AnatomicalEntity mondo Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. http://purl.obolibrary.org/obo/UBERON_2007013 CHEBI:50315 chloronium biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50315 chloranium|chloronium|[ClH2](+)|H2Cl(+) CHEBI:76907 EC 4.2.1.* (hydro-lyases) inhibitor biolink:ChemicalSubstance mondo An EC 4.2.* (C-O lyase) inhibitor that interferes with the action of any hydro-lyase (EC 4.2.1.*). http://purl.obolibrary.org/obo/CHEBI_76907 EC 4.2.1.* (hydro-lyases) inhibitors|EC 4.2.1.* (hydro-lyase) inhibitor|hydro-lyase (EC 4.2.1.*) inhibitors|EC 4.2.1.* inhibitors|EC 4.2.1.* inhibitor|hydro-lyase (EC 4.2.1.*) inhibitor|EC 4.2.1.* (hydro-lyase) inhibitors HGNC:9603 PTGIS biolink:OntologyClass mondo http://identifiers.org/hgnc/9603 HGNC:9607 PTHLH biolink:OntologyClass mondo http://identifiers.org/hgnc/9607 HGNC:9608 PTH1R biolink:OntologyClass mondo http://identifiers.org/hgnc/9608 HGNC:9606 PTH biolink:OntologyClass mondo http://identifiers.org/hgnc/9606 HP:0009743 Distichiasis biolink:PhenotypicFeature mondo SNOMEDCT_US:95339000|UMLS:C0423848 Double rows of eyelashes. http://purl.obolibrary.org/obo/HP_0009743 Distichiasis of eyelid eyelashes hposlim_core CHEBI:37332 tropane alkaloid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37332 tropane alkaloids UBERON:0002926 gustatory epithelium biolink:AnatomicalEntity mondo A sensory epithelium that is part of a gustatory system. http://purl.obolibrary.org/obo/UBERON_0002926 UBERON:0002925 trigeminal nucleus biolink:AnatomicalEntity mondo A nucleus of brain that is part of a trigeminal nuclear complex. http://purl.obolibrary.org/obo/UBERON_0002925 nucleus tractus mesencephali nervi trigeminalis|nucleus mesencephalicus nervi trigemini|trigeminal nuclear complex nucleus|trigeminal V nucleus|trigeminal nucleus|nucleus of trigeminal nuclear complex|nucleus mesencephalicus trigeminalis CHEBI:25367 molecule biolink:ChemicalSubstance mondo Any polyatomic entity that is an electrically neutral entity consisting of more than one atom. http://purl.obolibrary.org/obo/CHEBI_25367 molecula|neutral molecular compounds|molecules|Molekuel|molecule UBERON:0002928 dentate gyrus polymorphic layer biolink:AnatomicalEntity mondo A cellular layer of the dentate gyrus enclosed by the granule cell layer. A number of cell types are located in the polymorphic layer but the most prominent is the mossy cell. http://purl.obolibrary.org/obo/UBERON_0002928 CA4|polymorph layer of the dentate gyrus UBERON:0002921 longitudinal fissure biolink:AnatomicalEntity mondo The deep groove which separates the two hemispheres of the vertebrate brain. The falx cerebri, a dural brain covering, lies within the medial longitudinal fissure. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002921 longitudinal sulcus|longitudinal fissure of the cerebrum|sagittal fissure|fissura longitudinalis cerebrales|longitudinal cerebral fissure|LF|hemispheric sulcus|longitudinal fissure of hemisphere|fissura interhemispherica|fissura longitudinalis magna|medial longitudinal fissure|fissura longitudinalis cerebri|interhemispheric fissure CHEBI:25362 elemental molecule biolink:ChemicalSubstance mondo A molecule all atoms of which have the same atomic number. http://purl.obolibrary.org/obo/CHEBI_25362 homoatomic molecule|homoatomic molecules NCBITaxon:418107 Plasmodium (Laverania) organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_418107 Laverania UBERON:0014907 intersomitic vessel biolink:AnatomicalEntity mondo One of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites. http://purl.obolibrary.org/obo/UBERON_0014907 intersegmental vessel|intersomitic blood vessel|intersegmental vessels|segmental vessel|intersomitic vessels NCBITaxon:418103 Plasmodium (Plasmodium) organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium HP:0010732 Nodular changes affecting the eyelids biolink:PhenotypicFeature mondo UMLS:C4023716 Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. http://purl.obolibrary.org/obo/HP_0010732 Eyelid nodules UBERON:0014903 primordial vasculature biolink:AnatomicalEntity mondo A portion of tissue that will develop into vasculature. http://purl.obolibrary.org/obo/UBERON_0014903 HP:0009755 Ankyloblepharon biolink:PhenotypicFeature mondo SNOMEDCT_US:400952003|UMLS:C0339182|SNOMEDCT_US:193953008|MSH:C536373|UMLS:C1302999 Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. http://purl.obolibrary.org/obo/HP_0009755 Ankyloblepharon filiforme adnatum|Eyelids stuck together|Adhesion of eyelids|Eyelid synechiae hposlim_core UBERON:0014908 cerebellopontine angle biolink:AnatomicalEntity mondo Junction between the cerebellum and the pons. http://purl.obolibrary.org/obo/UBERON_0014908 cerebellopontile angle|cerebellopontine angle|angulus cerebellopontinus GO:0072330 monocarboxylic acid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. http://purl.obolibrary.org/obo/GO_0072330 monocarboxylic acid anabolism|monocarboxylic acid synthesis|monocarboxylic acid formation|monocarboxylic acid biosynthesis GO:0098962 regulation of postsynaptic neurotransmitter receptor activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. http://purl.obolibrary.org/obo/GO_0098962 GO:0098960 postsynaptic neurotransmitter receptor activity biolink:OntologyClass mondo Neurotransmitter receptor activity occuring in the postsynaptic membrane during synaptic transmission. http://purl.obolibrary.org/obo/GO_0098960 neurotransmitter receptor activity involved in chemical synaptic transmission ENVO:01000676 contaminated air biolink:OntologyClass mondo Contaminated air is air which has sufficient concentrations of environmental pollutants such that it may adversely affect a given ecosystem. http://purl.obolibrary.org/obo/ENVO_01000676 CL:0002427 resting double-positive thymocyte biolink:Cell mondo A double-positive, alpha-beta thymocyte that is small and not proliferating. http://purl.obolibrary.org/obo/CL_0002427 T.DP.sm.Th GO:1902533 positive regulation of intracellular signal transduction biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signaling cascade|upregulation of signal transduction via intracellular signaling cascade|up regulation of intracellular signal transduction|up-regulation of signal transmission via intracellular cascade|activation of signal transduction via intracellular signaling cascade|upregulation of intracellular signaling chain|up regulation of intracellular signal transduction pathway|activation of intracellular signal transduction|positive regulation of intracellular signal transduction pathway|up regulation of signal transmission via intracellular cascade|upregulation of intracellular signaling cascade|up-regulation of intracellular signaling pathway|positive regulation of signal transmission via intracellular cascade|upregulation of intracellular signal transduction|up-regulation of signal transduction via intracellular signaling cascade|up regulation of intracellular signaling pathway|upregulation of intracellular signal transduction pathway|activation of intracellular signal transduction pathway|up-regulation of intracellular signaling chain|positive regulation of intracellular signaling pathway|up regulation of signal transduction via intracellular signaling cascade|upregulation of signal transmission via intracellular cascade|activation of signal transmission via intracellular cascade|up-regulation of intracellular signaling cascade|activation of intracellular signaling cascade|positive regulation of intracellular protein kinase cascade|up regulation of intracellular signaling chain|positive regulation of signal transduction via intracellular signaling cascade|up-regulation of intracellular signal transduction|up regulation of intracellular signaling cascade|activation of intracellular signaling chain|upregulation of intracellular signaling pathway|positive regulation of intracellular signaling chain|activation of intracellular signaling pathway|up-regulation of intracellular signal transduction pathway CL:0002429 CD69-positive double-positive thymocyte biolink:Cell mondo A double-positive thymocyte that is CD69-positive and has begun positive selection. http://purl.obolibrary.org/obo/CL_0002429 T.DP69+.Th CL:0002428 double-positive blast biolink:Cell mondo A double-positive thymocyte that is large (i.e. has a high forward scatter signal in flow cytometry) and is actively proliferating. http://purl.obolibrary.org/obo/CL_0002428 activated double-positive thymocyte|T.DPb.Th GO:1902531 regulation of intracellular signal transduction biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular protein kinase cascade|regulation of intracellular signaling pathway|regulation of intracellular signaling cascade|regulation of signal transduction via intracellular signaling cascade|regulation of intracellular signaling chain|regulation of intracellular signal transduction pathway|regulation of signal transmission via intracellular cascade GO:1902532 negative regulation of intracellular signal transduction biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/GO_1902532 down-regulation of signal transduction via intracellular signaling cascade|negative regulation of signal transduction via intracellular signaling cascade|downregulation of intracellular signaling cascade|downregulation of signal transmission via intracellular cascade|down regulation of intracellular signaling pathway|down-regulation of intracellular signaling chain|negative regulation of intracellular signaling chain|down regulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signaling cascade|down-regulation of signal transmission via intracellular cascade|inhibition of intracellular signal transduction pathway|down regulation of intracellular signaling chain|downregulation of intracellular signaling pathway|inhibition of intracellular signaling cascade|inhibition of signal transmission via intracellular cascade|down-regulation of intracellular signal transduction|downregulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signal transduction pathway|negative regulation of intracellular signal transduction pathway|downregulation of intracellular signaling chain|inhibition of intracellular signaling chain|down regulation of intracellular signal transduction|negative regulation of signal transmission via intracellular cascade|inhibition of intracellular signaling pathway|down regulation of intracellular signal transduction pathway|inhibition of signal transduction via intracellular signaling cascade|down regulation of intracellular signaling cascade|down regulation of signal transmission via intracellular cascade|negative regulation of intracellular protein kinase cascade|negative regulation of intracellular signaling pathway|downregulation of intracellular signal transduction|down-regulation of intracellular signaling pathway|inhibition of intracellular signal transduction|downregulation of intracellular signal transduction pathway|negative regulation of intracellular signaling cascade CL:0002421 nucleated reticulocyte biolink:Cell mondo A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles. http://purl.obolibrary.org/obo/CL_0002421 MONDO:0040566 inherited glutathione metabolism disease biolink:Disease mondo UMLS:C0268518|SCTID:72262000 An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process. SNOMEDCT:72262000|UMLS:C0268518 http://purl.obolibrary.org/obo/MONDO_0040566 rare inborn error of glutathione metabolic process|inborn error of glutathione metabolism|inborn error of glutathione metabolic process|rare inborn error of glutathione metabolic process|glutathione metabolism disorder, inherited|inborn glutathione metabolic process disorder CL:0002420 immature T cell biolink:Cell mondo CALOHA:TS-1042|BTO:0001372 A T cell that has not completed T cell selection. http://purl.obolibrary.org/obo/CL_0002420 immature T-cell CL:0002423 DN2a thymocyte biolink:Cell mondo A DN2 thymocyte that is Kit-hi. http://purl.obolibrary.org/obo/CL_0002423 CL:0002422 enucleated reticulocyte biolink:Cell mondo CALOHA:TS-0864|FMA:66785 A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes. http://purl.obolibrary.org/obo/CL_0002422 CL:0002425 early T lineage precursor biolink:Cell mondo A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. http://purl.obolibrary.org/obo/CL_0002425 ETP|preT.ETP.Th CL:0002424 DN2b thymocyte biolink:Cell mondo A DN2 thymocyte that is Kit-low. http://purl.obolibrary.org/obo/CL_0002424 ENVO:01000665 waste role biolink:OntologyClass mondo A role that is realized in some process wherein the bearer is discarded or not utilized further. http://purl.obolibrary.org/obo/ENVO_01000665 CL:0002437 mature CD8 single-positive thymocyte biolink:Cell mondo A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. http://purl.obolibrary.org/obo/CL_0002437 T.8SP24-.Th GO:0060341 regulation of cellular localization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a process in which a cell, a substance, or a cellular entity is transported to, or maintained in a specific location within or in the membrane of a cell. http://purl.obolibrary.org/obo/GO_0060341 regulation of cellular localisation CL:0002430 CD4-intermediate, CD8-positive double-positive thymocyte biolink:Cell mondo A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD4 co-receptor. http://purl.obolibrary.org/obo/CL_0002430 T.4int8+.Th CL:0002432 CD24-positive, CD4 single-positive thymocyte biolink:Cell mondo A CD4-positive, CD8-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. http://purl.obolibrary.org/obo/CL_0002432 T.4SP24int.Th|CD24-positive, CD4 single-positive semimature thymocyte CL:0002431 CD4-positive, CD8-intermediate double-positive thymocyte biolink:Cell mondo A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor. http://purl.obolibrary.org/obo/CL_0002431 T.4int8+.th CL:0002434 CD24-positive, CD8 single-positive thymocyte biolink:Cell mondo A CD8-positive, CD4-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. http://purl.obolibrary.org/obo/CL_0002434 T.8SP24int.Th|CD24-positive, CD8 single-positive semimature thymocyte CL:0002433 CD69-positive, CD4-positive single-positive thymocyte biolink:Cell mondo A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. http://purl.obolibrary.org/obo/CL_0002433 intermediate CD4-single-positive|T.4SP69+.Th CL:0002436 mature CD4 single-positive thymocyte biolink:Cell mondo A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. http://purl.obolibrary.org/obo/CL_0002436 T.4SP24-.Th GO:0060348 bone development biolink:OntologyClass mondo The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. http://purl.obolibrary.org/obo/GO_0060348 CL:0002435 CD69-positive, CD8-positive single-positive thymocyte biolink:Cell mondo A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. http://purl.obolibrary.org/obo/CL_0002435 intermediate CD8-single-positive|T.8SP69+.Th GO:0072329 monocarboxylic acid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. http://purl.obolibrary.org/obo/GO_0072329 GO:0098976 excitatory chemical synaptic transmission biolink:OntologyClass mondo Synaptic transmission that results in an excitatory postsynaptic potential. http://purl.obolibrary.org/obo/GO_0098976 GO:0098975 postsynapse of neuromuscular junction biolink:OntologyClass mondo The postsynapse of a neuromuscular junction. In vertebrate muscles this includes the motor end-plate, consisting of postjunctional folds of the sarcolemma. http://purl.obolibrary.org/obo/GO_0098975 GO:0072350 tricarboxylic acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing three carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/GO_0072350 tricarboxylic acid metabolism GO:0060374 mast cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/GO_0060374 GO:0060375 regulation of mast cell differentiation biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/GO_0060375 GO:0060376 positive regulation of mast cell differentiation biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/GO_0060376 GO:0060377 negative regulation of mast cell differentiation biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/GO_0060377 MONDO:0015599 atopic keratoconjunctivitis biolink:Disease mondo UMLS:C1274788|ICD9:370.49|SCTID:403434009|Orphanet:163934|ICD10:H16.2|MedDRA:10069664 Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis. SNOMEDCT:403434009|ORPHA:163934|MEDDRA:10069664|UMLS:C1274788 http://purl.obolibrary.org/obo/MONDO_0015599 ordo_disease MONDO:0015598 acrodermatitis continua suppurativa of Hallopeau biolink:Disease mondo UMLS:CN199965|Orphanet:163931|ICD10:L40.2 ORPHA:163931|UMLS:CN199965 http://purl.obolibrary.org/obo/MONDO_0015598 ordo_disease GO:0035369 pre-B cell receptor complex biolink:OntologyClass mondo An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/GO_0035369 pre-BCR CL:0002400 Fraction B/C precursor B cell biolink:Cell mondo A precursor B cell that is AA4-positive, IgM-negative, CD19-positive, CD43-positive and HSA-positive. http://purl.obolibrary.org/obo/CL_0002400 MONDO:0015593 limbic encephalitis with nCMAgs antibodies biolink:Disease mondo Orphanet:163914|ICD10:G13.1 ORPHA:163914 http://purl.obolibrary.org/obo/MONDO_0015593 limbic encephalitis with novel cell membrane antigen antibodies ordo_disease MONDO:0015592 limbic encephalitis with LGI1 antibodies biolink:Disease mondo ICD10:G04.8|SCTID:763794005|Orphanet:163908|ICD10:G13.1 Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported. ORPHA:163908|SNOMEDCT:763794005 http://purl.obolibrary.org/obo/MONDO_0015592 limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies ordo_disease MONDO:0015591 limbic encephalitis associated with antibodies to cell membrane antigens biolink:Disease mondo Orphanet:163903|ICD10:G13.1 ORPHA:163903 http://purl.obolibrary.org/obo/MONDO_0015591 ordo_group_of_disorders GO:0072359 circulatory system development biolink:OntologyClass mondo The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/GO_0072359 cardiovascular system development MONDO:0015590 classic paraneoplastic limbic encephalitis biolink:Disease mondo Orphanet:163898|ICD10:G13.1 Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed. ORPHA:163898 http://purl.obolibrary.org/obo/MONDO_0015590 classic paraneoplastic limbic encephalitis, with or without intracellular antigens ordo_disease GO:0072358 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0072358 MONDO:0015597 pustulosis palmaris et plantaris biolink:Disease mondo Orphanet:163927|DOID:4398|ICD10:L40.3|SCTID:27520001|NCIT:C34888|ICD9:696.1|MedDRA:10050185|GARD:0012820|SCTID:81271001 DOID:4398|MEDDRA:10050185|SNOMEDCT:81271001|NCIT:C34888|ORPHA:163927|SNOMEDCT:27520001|UMLS:C0030246 http://purl.obolibrary.org/obo/MONDO_0015597 palmoplantar pustulosis|pustular psoriasis of the palms and/or soles|PPP|Lpp|acropustulosis|pustulosis of palm and sole|localized pustular psoriasis ordo_disease MONDO:0015596 non-herpetic acute limbic encephalitis biolink:Disease mondo Orphanet:163924|ICD10:G04.8|SCTID:764998005 Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders. ORPHA:163924|SNOMEDCT:764998005 http://purl.obolibrary.org/obo/MONDO_0015596 ordo_disease MONDO:0015595 posttransplant acute limbic encephalitis biolink:Disease mondo Orphanet:163921|ICD10:A86 Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated. ORPHA:163921 http://purl.obolibrary.org/obo/MONDO_0015595 pale ordo_clinical_situation MONDO:0015594 non-paraneoplastic limbic encephalitis biolink:Disease mondo Orphanet:163918 ORPHA:163918 http://purl.obolibrary.org/obo/MONDO_0015594 ordo_group_of_disorders ENVO:01000685 water mass biolink:OntologyClass mondo A mass of water. http://purl.obolibrary.org/obo/ENVO_01000685 ENVO:01000687 coast biolink:OntologyClass mondo A coast is the area where land meets the sea, ocean, or lake. http://purl.obolibrary.org/obo/ENVO_01000687 GO:1902571 regulation of serine-type peptidase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of serine-type peptidase activity. http://purl.obolibrary.org/obo/GO_1902571 regulation of serine protease activity MONDO:0015589 paraneoplastic limbic encephalitis biolink:Disease mondo SCTID:445014002|Orphanet:163895|ICD10:G13.1|ICD9:323.81|NCIT:C4350 A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia. SNOMEDCT:445014002|ORPHA:163895|NCIT:C4350 http://purl.obolibrary.org/obo/MONDO_0015589 limbic encephalitis|limbic encephalitis ordo_group_of_disorders GO:1902572 negative regulation of serine-type peptidase activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of serine-type peptidase activity. http://purl.obolibrary.org/obo/GO_1902572 downregulation of serine-type peptidase activity|negative regulation of serine protease activity|down-regulation of serine protease activity|down regulation of serine-type peptidase activity|inhibition of serine protease activity|inhibition of serine-type peptidase activity|down-regulation of serine-type peptidase activity|downregulation of serine protease activity|down regulation of serine protease activity MONDO:0015588 limbic encephalitis biolink:Disease mondo Orphanet:163892|ICD9:323.9|GARD:0008742|MESH:D020363|SCTID:230192003 Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy. UMLS:C0338430|ORPHA:163892|SNOMEDCT:230192003|MESH:D020363 http://purl.obolibrary.org/obo/MONDO_0015588 ordo_group_of_disorders|gard_rare MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome biolink:Disease mondo UMLS:CN199957|Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. ORPHA:163721|UMLS:CN199957 http://purl.obolibrary.org/obo/MONDO_0015587 ordo_disease MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium biolink:Disease mondo Orphanet:163637|UMLS:CN226708 Any of the forms of pregnancy disorder that have a rare incidence. ORPHA:163637|UMLS:CN226708 http://purl.obolibrary.org/obo/MONDO_0015582 rare pregnancy disorder ordo_group_of_disorders|obsoletion_candidate ENVO:01000680 polluted lake biolink:OntologyClass mondo A lake which has concentrations of environmental contaminants high enough to harm the ecosystems associated with it. http://purl.obolibrary.org/obo/ENVO_01000680 MONDO:0015581 bile acid synthesis defect with cholestasis and malabsorption biolink:Disease mondo Orphanet:163631|ICD10:K76.8 ORPHA:163631 http://purl.obolibrary.org/obo/MONDO_0015581 ordo_group_of_disorders MONDO:0015580 distal monosomy 7q36 biolink:Disease mondo ICD10:Q93.5|SCTID:763529005|Orphanet:1636 Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. SNOMEDCT:763529005|ORPHA:1636 http://purl.obolibrary.org/obo/MONDO_0015580 distal monosomy type 7q36|monosomy 7qter|distal deletion 7q36|telomeric deletion 7q36 ordo_malformation_syndrome GO:0072348 sulfur compound transport biolink:OntologyClass mondo The directed movement of compounds that contain sulfur, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0072348 sulfur-containing compound transport MONDO:0015586 benign familial mesial temporal lobe epilepsy biolink:Disease mondo Orphanet:163717|UMLS:CN226709 Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. UMLS:CN226709|ORPHA:163717 http://purl.obolibrary.org/obo/MONDO_0015586 benign FMTLE ordo_disease MONDO:0015585 cryptogenic late-onset epileptic spasms biolink:Disease mondo Orphanet:163708 Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. ORPHA:163708 http://purl.obolibrary.org/obo/MONDO_0015585 late-onset infantile spasms ordo_disease MONDO:0015584 febrile infection-related epilepsy syndrome biolink:Disease mondo GARD:0011005|ICD10:G40.5|Orphanet:163703|UMLS:CN199955|SCTID:725413002 Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness. SNOMEDCT:725413002|ORPHA:163703|UMLS:CN199955 http://purl.obolibrary.org/obo/MONDO_0015584 AERRPS|status epilepticus owing to presumed encephalitis|fever-induced refractory epileptic encephalopathy in school-aged children|acute encephalitis with refractory repetitive partial seizures|devastating epileptic encephalopathy in school-aged children|severe refractory status epilepticus owing to presumed encephalitis|idiopathic catastrophic epileptic encephalopathy|FIRES|acute non-herpetic encephalitis with severe refractory status epilepticus|DESC syndrome gard_rare|ordo_disease MONDO:0015583 2p21 microdeletion syndrome biolink:Disease mondo Orphanet:163693|UMLS:C4304537|UMLS:CN199952|ICD10:Q93.5|SCTID:719652007 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. UMLS:C4304537|ORPHA:163693|SNOMEDCT:719652007|UMLS:CN199952 http://purl.obolibrary.org/obo/MONDO_0015583 monosomy 2p21|2p21 deletion syndrome|Del(2)(p21) ordo_disease ENVO:01000635 planetary landmass biolink:OntologyClass mondo A landmass which is part of a planet. http://purl.obolibrary.org/obo/ENVO_01000635 ground|land ENVO:01000637 outer space biolink:OntologyClass mondo Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. http://purl.obolibrary.org/obo/ENVO_01000637 space ENVO:01000638 planetary crust biolink:OntologyClass mondo A planetary crust is the outermost solid shell of a rocky planet or natural satellite, which is chemically distinct from the underlying mantle. http://purl.obolibrary.org/obo/ENVO_01000638 crust GO:1902573 positive regulation of serine-type peptidase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of serine-type peptidase activity. http://purl.obolibrary.org/obo/GO_1902573 activation of serine protease activity|upregulation of serine protease activity|up-regulation of serine-type peptidase activity|activation of serine-type peptidase activity|positive regulation of serine protease activity|up regulation of serine protease activity|upregulation of serine-type peptidase activity|up-regulation of serine protease activity|up regulation of serine-type peptidase activity ENVO:01000639 planetary structural layer biolink:OntologyClass mondo A planetary structural layer is laminar part of a terrestrial planet or other rocky body large enough to have differentiation by density. Planetary layers have differing physicochemical properties and composition. http://purl.obolibrary.org/obo/ENVO_01000639 GO:0072376 protein activation cascade biolink:OntologyClass mondo A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. http://purl.obolibrary.org/obo/GO_0072376 protein activation pathway|protein activitory cascade GO:0072364 obsolete regulation of cellular ketone metabolic process by regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0072364 regulation of cellular ketone metabolic process by regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by regulation of transcription from an RNA polymerase II promoter GO:0072363 obsolete regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0072363 regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter GO:0072362 obsolete regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0072362 regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter ENVO:01000624 hydrological condensation process biolink:OntologyClass mondo Hydrological condensation is a process in which atmospheric water vapour undergoes a phase transition from the gas phase to the liquid phase. http://purl.obolibrary.org/obo/ENVO_01000624 condensation GO:0072361 obsolete regulation of glycolytic process by regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0072361 NCBITaxon:337963 Neotominae organism taxon mondo PMID:15371245|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_337963 GO:0072369 obsolete regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0072369 regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter GO:0072368 obsolete regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0072368 regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter GO:0072367 obsolete regulation of lipid transport by regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0072367 regulation of lipid transport by regulation of transcription from an RNA polymerase II promoter GO:0072366 obsolete regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0072366 regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by positive regulation of transcription from an RNA polymerase II promoter GO:0072365 obsolete regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0072365 regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by negative regulation of transcription from an RNA polymerase II promoter CHEBI:50268 GABA modulator biolink:ChemicalSubstance mondo A substance that does not act as agonist or antagonist but does affect the gamma-aminobutyric acid receptor-ionophore complex. GABA-A receptors appear to have at least three allosteric sites at which modulators act: a site at which benzodiazepines act by increasing the opening frequency of gamma-aminobutyric acid-activated chloride channels; a site at which barbiturates act to prolong the duration of channel opening; and a site at which some steroids may act. http://purl.obolibrary.org/obo/CHEBI_50268 GABA modulators ENVO:01000646 lithosphere biolink:OntologyClass mondo A lithosphere is the outermost shell of a terrestrial-type planet or natural satellite that is defined by its rigid mechanical properties. http://purl.obolibrary.org/obo/ENVO_01000646 CHEBI:50267 protective agent biolink:ChemicalSubstance mondo Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent. http://purl.obolibrary.org/obo/CHEBI_50267 chemoprotective agents|chemoprotective agent|chemoprotectant|chemoprotectants|protective agents ENVO:01000640 planetary mantle biolink:OntologyClass mondo A planetary mantle is a planetary layer which is an interior part of a terrestrial planet or other rocky body large enough to have differentiation by density. http://purl.obolibrary.org/obo/ENVO_01000640 mantle CHEBI:144644 a tetracycline zwittterion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline ENVO:01000648 magma biolink:OntologyClass mondo Magma is a mixture of molten or semi-molten rock, volatiles, and solids that is found beneath the uppermost solid layer of a planetary body. Besides molten rock, magma may also contain suspended crystals, dissolved gas and sometimes gas bubbles. http://purl.obolibrary.org/obo/ENVO_01000648 CHEBI:50266 prodrug biolink:ChemicalSubstance mondo A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug. http://purl.obolibrary.org/obo/CHEBI_50266 Prodrugs MONDO:0003546 third cranial nerve disease biolink:Disease mondo UMLS:C0271353|DOID:562|SCTID:60750009|MESH:D015840|NCIT:C27598 A disease involving the oculomotor nerve. NCIT:C27598|UMLS:C0271353|MESH:D015840|SNOMEDCT:60750009|DOID:562 http://purl.obolibrary.org/obo/MONDO_0003546 oculomotor nerve disease|disorder of oculomotor nerve|oculomotor nerve disorder|oculomotor nerve disease or disorder|disease of oculomotor nerve|disorder of oculomotor nerve|disease or disorder of oculomotor nerve MONDO:0003547 obsolete histiocytic and dendritic cell cancer biolink:Disease mondo NCIT:C43251 http://purl.obolibrary.org/obo/MONDO_0003547 MONDO:0003548 adenosquamous breast carcinoma biolink:Disease mondo UMLS:C1510796|NCIT:C40361|DOID:5623|ONCOTREE:MASC An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation. UMLS:C1510796|NCIT:C40361|DOID:5623 http://purl.obolibrary.org/obo/MONDO_0003548 breast adenosquamous carcinoma|adenosquamous breast carcinoma|metaplastic adenosquamous carcinoma MONDO:0003549 adenosquamous bile duct carcinoma biolink:Disease mondo UMLS:C0861854|DOID:5624 An adenosquamous carcinoma that arises from the bile ducts. UMLS:C0861854|DOID:5624 http://purl.obolibrary.org/obo/MONDO_0003549 adenosquamous bile duct carcinoma|adenosquamous carcinoma of the bile duct|bile duct adenosquamous carcinoma|adenosquamous carcinoma of bile duct MONDO:0003542 dental pulp calcification biolink:Disease mondo DOID:5608|ICD10:K04.2|UMLS:C0011401|MESH:D003784|SCTID:57602001 MESH:D003784|SNOMEDCT:57602001|DOID:5608|UMLS:C0011401 http://purl.obolibrary.org/obo/MONDO_0003542 pulp calcifications|pulp calcification|pulpal calcifications HGNC:9580 PSTPIP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9580 MONDO:0003543 trigeminal nerve disease biolink:Disease mondo MESH:D020433|DOID:561|NCIT:C26952|ICD9:350.8|SCTID:64309007 A disease involving the trigeminal nerve. NCIT:C26952|MESH:D020433|DOID:561|SNOMEDCT:64309007 http://purl.obolibrary.org/obo/MONDO_0003543 trigeminal nerve disease or disorder|disorder of trigeminal nerve|trigeminal nerve disorder|disorders of the fifth nerve|disease of trigeminal nerve|disease or disorder of trigeminal nerve|disorder of trigeminal nerve|trigeminal nerve disease|disorders of the vth cranial nerve|disorder of the fifth cranial nerve MONDO:0003544 spinal cord cancer biolink:Disease mondo SCTID:363475005|UMLS:C0153646|NCIT:C3572|ICD9:192.2|DOID:5612|ICD10:C72.0|COHD:4177234 A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma. UMLS:C0153646|NCIT:C3572|DOID:5612|SNOMEDCT:363475005 http://purl.obolibrary.org/obo/MONDO_0003544 malignant spinal cord tumor|spine cancer|spinal cord neoplasm|malignant tumor of spinal cord|malignant tumor of the spinal cord|malignant spinal cord neoplasm|spinal cord cancer|spinal neoplasm|cancer of spinal cord|spinal cancer|malignant neoplasm of spinal cord|tumor of the spinal cord|intraspinal tumor|malignant neoplasm of the spinal cord MONDO:0003545 intradural extramedullary spinal canal neoplasm biolink:Disease mondo NCIT:C5135|UMLS:C1334255|DOID:5615 A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression. NCIT:C5135|UMLS:C1334255|DOID:5615 http://purl.obolibrary.org/obo/MONDO_0003545 intradural extramedullary spinal canal neoplasm|intradural extramedullary tumor of the spinal canal|intradural extramedullary spinal canal tumors|intradural extramedullary spinal tumors|intradural extramedullary spinal neoplasms|intradural extramedullary neoplasm of spinal canal|spinal canal intradural extramedullary neoplasm|intradural extramedullary neoplasm of the spinal canal|intradural extramedullary spinal canal tumor|intradural extramedullary tumor of spinal canal HGNC:24592 STEAP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/24592 UBERON:0036376 wall of left ureter biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036376 left ureteral wall UBERON:0036375 wall of right ureter biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036375 right ureteral wall MONDO:0003540 acute T cell leukemia biolink:Disease mondo ICD10:C91.50|SCTID:277575008|CSP:2004-1803|DOID:5603|CSP:2004-1600|ICD10:C91.5 SNOMEDCT:277575008|DOID:5603 http://purl.obolibrary.org/obo/MONDO_0003540 precursor T lymphoblastic leukemia|T-cell acute lymphoblastic leukemia MONDO:0015529 paroxysmal Hemicrania biolink:Disease mondo GARD:0010794|MedDRA:10019461|SCTID:443094001|EFO:1001822|UMLS:C1399352|ICD10:G44.0|Orphanet:157835|ICD9:339.03|MESH:D051302 Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy. MESH:D051302|ORPHA:157835|SNOMEDCT:443094001|MEDDRA:10019461|UMLS:C1399352 http://purl.obolibrary.org/obo/MONDO_0015529 ordo_disease|gard_rare MONDO:0003541 adult acute lymphoblastic leukemia biolink:Disease mondo UMLS:C0751606|DOID:5604|NCIT:C4967 An acute lymphoblastic leukemia occurring during adulthood. NCIT:C4967|DOID:5604|UMLS:C0751606 http://purl.obolibrary.org/obo/MONDO_0003541 adult acute lymphoblastic leukemia|acute lymphoblastic leukemia (ALL)|adult precursor lymphoblastic leukemia|adult acute lymphocytic leukemia|adult acute lymphoid leukemia|adult ALL|adult acute lymphogenous leukemia HGNC:24595 DYNC2LI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24595 MONDO:0015535 xanthoma disseminatum biolink:Disease mondo MedDRA:10052575|GARD:0013186|SCTID:399970005|ICD10:D76.3|Orphanet:158003|UMLS:C0043322 UMLS:C0043322|MEDDRA:10052575|ORPHA:158003|SNOMEDCT:399970005 http://purl.obolibrary.org/obo/MONDO_0015535 Montgomery syndrome ordo_disease|gard_rare MONDO:0015534 juvenile xanthogranuloma biolink:Disease mondo MESH:D014972|Orphanet:158000|ICD10:D76.3|UMLS:C0043324|NCIT:C3451|EFO:1000311|SCTID:400204000|DOID:4424 A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules. NCIT:C3451|UMLS:C0043324|MESH:D014972|DOID:4424|ORPHA:158000|SNOMEDCT:400204000 http://purl.obolibrary.org/obo/MONDO_0015534 JXG|Naevoxanthoendothelioma|juvenile xanthogranuloma|xanthoma neviforme|multiple eruptive juvenile xanthogranuloma ordo_disease MONDO:0015533 benign cephalic histiocytosis biolink:Disease mondo ICD10:D76.3|UMLS:C0347403|Orphanet:157997|ICD9:216.8|SCTID:255192005 ORPHA:157997|UMLS:C0347403|SNOMEDCT:255192005 http://purl.obolibrary.org/obo/MONDO_0015533 ordo_disease MONDO:0015532 generalized eruptive histiocytosis biolink:Disease mondo SCTID:110980006|ICD10:D76.3|UMLS:C0347404|Orphanet:157991 ORPHA:157991|UMLS:C0347404|SNOMEDCT:110980006 http://purl.obolibrary.org/obo/MONDO_0015532 generalized eruptive histiocytoma ordo_disease MONDO:0015539 progressive nodular histiocytosis biolink:Disease mondo SCTID:765141005|ICD10:D76.3|Orphanet:158022 Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease. ORPHA:158022|SNOMEDCT:765141005 http://purl.obolibrary.org/obo/MONDO_0015539 ordo_disease MONDO:0015538 indeterminate dendritic cell tumor biolink:Disease mondo ICD10:D76.3|SCTID:721313009|ONCOTREE:IDCT|Orphanet:158019|NCIT:C81767|UMLS:C2825741 A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable. UMLS:C2825741|SNOMEDCT:721313009|NCIT:C81767|ORPHA:158019 http://purl.obolibrary.org/obo/MONDO_0015538 indeterminate cell histiocytosis|indeterminate Dendritic cell tumor|indeterminate dendritic cell tumor|IDCT ordo_disease MONDO:0015537 necrobiotic xanthogranuloma biolink:Disease mondo SCTID:404164003|ICD9:709.8|ICD10:D76.3|Orphanet:158011|MESH:D058252|GARD:0010951|UMLS:C1275339|EFO:1001376 A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement. UMLS:C1275339|MESH:D058252|SNOMEDCT:404164003|ORPHA:158011 http://purl.obolibrary.org/obo/MONDO_0015537 NXG ordo_disease|gard_rare MONDO:0015536 papular xanthoma biolink:Disease mondo ICD10:D76.3|Orphanet:158008|UMLS:CN199692|SCTID:765221009 Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease. UMLS:CN199692|SNOMEDCT:765221009|ORPHA:158008 http://purl.obolibrary.org/obo/MONDO_0015536 ordo_disease HGNC:9585 PTCH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9585 MONDO:0003539 T-cell adult acute lymphocytic leukemia biolink:Disease mondo UMLS:C0279592|EFO:1001936|DOID:5602|NCIT:C9142 An acute T-lymphoblastic leukemia occurring in adults. UMLS:C0279592|NCIT:C9142|DOID:5602 http://purl.obolibrary.org/obo/MONDO_0003539 T Acute Lymphoblastic Leukemia|adult acute lymphoblastic leukemia of T cell|adult precursor T-lymphoblastic leukemia|T cell adult ALL|T-cell adult ALL|T cell adult acute lymphoblastic leukemia|T cell adult acute lymphocytic leukemia|adult T acute lymphoblastic leukemia|adult T-cell acute lymphoblastic leukemia|acute Adult T-cell Leukemia-lymphoma|adult precursor T lymphoblastic leukemia MONDO:0015531 non-Langerhans cell histiocytosis biolink:Disease mondo SCTID:127069007|ICD10:D76.3|UMLS:C0019624|GARD:0008231|Orphanet:157987|ICD9:288.4|DOID:4330|MESH:D015616 Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES). ORPHA:157987|MESH:D015616|SNOMEDCT:127069007|DOID:4330|UMLS:C0019624 http://purl.obolibrary.org/obo/MONDO_0015531 histiocytosis, non-Langerhans-cell|non-Langerhans-cell histiocytosis ordo_group_of_disorders HGNC:9588 PTEN biolink:OntologyClass mondo http://identifiers.org/hgnc/9588 MONDO:0015530 trigeminal autonomic cephalalgia biolink:Disease mondo NCIT:C117074|ICD9:339.09|SCTID:449814007|ICD10:G44.8|MESH:D051303|Orphanet:157843|UMLS:C1565172 A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms. SNOMEDCT:449814007|NCIT:C117074|UMLS:C1565172|MESH:D051303|ORPHA:157843 http://purl.obolibrary.org/obo/MONDO_0015530 ordo_group_of_disorders HGNC:9586 PTCH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9586 HGNC:9587 PTDSS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9587 MONDO:0003557 optic nerve sheath meningioma biolink:Disease mondo UMLS:C0346328|SCTID:254978007|ICD9:237.9|DOID:5632|NCIT:C4538 A meningioma that affects the sheath of the optic nerve. NCIT:C4538|UMLS:C0346328|DOID:5632|SNOMEDCT:254978007 http://purl.obolibrary.org/obo/MONDO_0003557 optic nerve sheath meningioma|meningioma of optic nerve sheath|meningioma of the optic nerve sheath MONDO:0003558 adenosquamous prostate carcinoma biolink:Disease mondo NCIT:C5538|UMLS:C1335503|DOID:5634 An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones. NCIT:C5538|UMLS:C1335503|DOID:5634 http://purl.obolibrary.org/obo/MONDO_0003558 adenosquamous carcinoma of the prostate|prostate gland adenosquamous carcinoma|prostate adenosquamous carcinoma|adenosquamous carcinoma of prostate CHEBI:76898 EC 1.14.14.1 (unspecific monooxygenase) inhibitor biolink:ChemicalSubstance mondo An EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor that interferes with the action of an unspecified monooxygenase (EC 1.14.14.1). http://purl.obolibrary.org/obo/CHEBI_76898 microsomal P-450 inhibitor|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitor|aryl hydrocarbon hydroxylase inhibitor|microsomal monooxygenase inhibitor|flavoprotein-linked monooxygenase inhibitors|microsomal monooxygenase inhibitors|flavoprotein-linked monooxygenase inhibitor|aryl hydrocarbon hydroxylase inhibitors|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitors|microsomal P-450 inhibitors|xenobiotic monooxygenase inhibitor|unspecific monooxygenase (EC 1.14.14.1) inhibitor|unspecific monooxygenase inhibitors|EC 1.14.14.1 inhibitor|aryl-4-monooxygenase inhibitors|flavoprotein monooxygenase inhibitors|flavoprotein monooxygenase inhibitor|aryl-4-monooxygenase inhibitor|EC 1.14.14.1 inhibitors|EC 1.14.14.1 (unspecific monooxygenase) inhibitors|xenobiotic monooxygenase inhibitors|unspecific monooxygenase inhibitor|unspecific monooxygenase (EC 1.14.14.1) inhibitors MONDO:0003559 obsolete cervical adenosquamous carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003559 MONDO:0003553 ampulla of vater adenosquamous carcinoma biolink:Disease mondo DOID:5628|NCIT:C27418|UMLS:C1332245 A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. UMLS:C1332245|DOID:5628|NCIT:C27418 http://purl.obolibrary.org/obo/MONDO_0003553 hepatopancreatic ampulla adenosquamous carcinoma|ampulla of Vater adenosquamous carcinoma NCBITaxon:431037 unclassified Roseolovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_431037 GO:0050954 sensory perception of mechanical stimulus biolink:OntologyClass mondo The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/GO_0050954 perception of mechanical stimulus|mechanosensory perception|chemi-mechanical coupling HGNC:9591 PTGDR biolink:OntologyClass mondo http://identifiers.org/hgnc/9591 MONDO:0003554 adenosquamous colon carcinoma biolink:Disease mondo NCIT:C5491|DOID:5629|UMLS:C1333082 An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. UMLS:C1333082|DOID:5629|NCIT:C5491 http://purl.obolibrary.org/obo/MONDO_0003554 colon adenosquamous cancer|colon adenosquamous carcinoma|adenosquamous carcinoma of colon|adenosquamous colon carcinoma|adenosquamous carcinoma of the colon|colonic adenosquamous carcinoma MONDO:0003555 Bartholin gland adenosquamous carcinoma biolink:Disease mondo NCIT:C40296|UMLS:C1511050|DOID:5630 A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells. NCIT:C40296|DOID:5630|UMLS:C1511050 http://purl.obolibrary.org/obo/MONDO_0003555 Bartholin's gland adenosquamous carcinoma|Bartholin gland adenosquamous carcinoma|major vestibular gland adenosquamous carcinoma MONDO:0003556 endometrial adenosquamous carcinoma biolink:Disease mondo NCIT:C114656|EFO:1001952|GARD:0013107|UMLS:C3896969|DOID:5631 A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components. UMLS:C3896969|DOID:5631|NCIT:C114656 http://purl.obolibrary.org/obo/MONDO_0003556 adenosquamous carcinoma of the endometrium|endometrium adenosquamous carcinoma|adenosquamous carcinoma of endometrium|endometrial adenosquamous cancer|endometrial adenosquamous carcinoma gard_rare GO:0050953 sensory perception of light stimulus biolink:OntologyClass mondo The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/GO_0050953 MONDO:0003550 esophageal adenosquamous carcinoma biolink:Disease mondo DOID:5625|NCIT:C27421|UMLS:C2063886 An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components. UMLS:C2063886|DOID:5625|NCIT:C27421 http://purl.obolibrary.org/obo/MONDO_0003550 esophageal adenosquamous cancer|esophagus adenosquamous carcinoma|esophageal adenosquamous carcinoma MONDO:0003551 thymic adenosquamous carcinoma biolink:Disease mondo DOID:5626|UMLS:C1332171|NCIT:C6458 A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components. UMLS:C1332171|DOID:5626|NCIT:C6458 http://purl.obolibrary.org/obo/MONDO_0003551 thymus adenosquamous carcinoma|thymic adenosquamous carcinoma|adenosquamous carcinoma of the Thymus|adenosquamous carcinoma of Thymus|Thymus adenosquamous carcinoma MONDO:0015519 congenital or early infantile CACH syndrome biolink:Disease mondo ICD10:E75.2|Orphanet:157713 ORPHA:157713 http://purl.obolibrary.org/obo/MONDO_0015519 ordo_clinical_subtype MONDO:0015518 infantile bilateral striatal necrosis biolink:Disease mondo ICD10:G23.2|UMLS:C0795996|Orphanet:1576|SCTID:718174008|GARD:0005040 Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. UMLS:C0795996|SNOMEDCT:718174008|ORPHA:1576 http://purl.obolibrary.org/obo/MONDO_0015518 striatal degeneration familial|infantile striatonigral necrosis|SNDI|IBSN|infantile striatonigral degeneration|striatonigral degeneration infantile|infantile bilateral striatal necrosis gard_rare|ordo_disease GO:0050957 equilibrioception biolink:OntologyClass mondo The series of events required for an organism to receive an orientational stimulus, convert it to a molecular signal, and recognize and characterize the signal. Equilibrioception refers to a combination of processes by which an organism can perceive its orientation with respect to gravity. In animals, stimuli come from labyrinth system of the inner ears, monitoring the direction of motion; visual stimuli, with information on orientation and motion; pressure receptors, which tell the organism which body surfaces are in contact with the ground; and proprioceptive cues, which report which parts of the body are in motion. http://purl.obolibrary.org/obo/GO_0050957 sensory perception of orientation with respect to gravity MONDO:0003552 obsolete adenosquamous gallbladder carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003552 MONDO:0015524 hyperplastic polyposis syndrome biolink:Disease mondo UMLS:CN199665|SCTID:763536006|Orphanet:157798|ICD10:D12.6 Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. UMLS:CN199665|ORPHA:157798|SNOMEDCT:763536006 http://purl.obolibrary.org/obo/MONDO_0015524 serrated polyposis ordo_disease MONDO:0015523 epithelioid hemangioendothelioma biolink:Disease mondo Orphanet:157791|SCTID:403981003|DOID:0080190|ICD10:D18.0|UMLS:C0206732|ICDO:9133/3|MESH:D018323|NCIT:C3800|ICDO:9133/1|ONCOTREE:EHAE|ICDO:9130/3 A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. MESH:D018323|ORPHA:157791|NCIT:C3800|DOID:0080190|SNOMEDCT:403981003|UMLS:C0206732 http://purl.obolibrary.org/obo/MONDO_0015523 epithelioid angioendothelioma|epithelioid hemangioendothelioma|epithelioid angiosarcoma|malignant epithelioid hemangioendothelioma ordo_disease MONDO:0015522 situs ambiguus biolink:Disease mondo MedDRA:10059119|Orphanet:157769|GARD:0010875|SCTID:14821001|ICD10:Q89.3 ORPHA:157769|UMLS:C1167664|UMLS:C0266642|MEDDRA:10059119|SNOMEDCT:14821001 http://purl.obolibrary.org/obo/MONDO_0015522 incomplete situs inversus|situs ambiguous|partial situs inversus ordo_morphological_anomaly MONDO:0015521 juvenile or adult CACH syndrome biolink:Disease mondo Orphanet:157719|UMLS:CN199660|ICD10:E75.2 ORPHA:157719|UMLS:CN199660 http://purl.obolibrary.org/obo/MONDO_0015521 ordo_clinical_subtype MONDO:0015528 congenital epulis biolink:Disease mondo MESH:D005887|NCIT:C4675|Orphanet:157826|UMLS:C0376319|DOID:7280|SCTID:360525006 A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative. ORPHA:157826|MESH:D005887|UMLS:C0376319|NCIT:C4675|DOID:7280|SNOMEDCT:360525006 http://purl.obolibrary.org/obo/MONDO_0015528 congenital granular cell tumor|congenital gingival cell tumor|gingival granular cell tumor|Neumann tumor|congenital Epulides|congenital epulis ordo_disease MONDO:0015527 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015527 GO:2001169 regulation of ATP biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of ATP biosynthetic process. http://purl.obolibrary.org/obo/GO_2001169 regulation of ATP regeneration|regulation of ATP formation|regulation of ATP biosynthesis|regulation of ATP anabolism|regulation of ATP synthesis MONDO:0015526 cold-induced sweating syndrome biolink:Disease mondo DOID:0060294|ICD10:G90.8|UMLS:CN043579|OMIMPS:272430|SCTID:702363009|Orphanet:157820 Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. DOID:0060294|SNOMEDCT:702363009|ORPHA:157820|UMLS:CN043579 http://purl.obolibrary.org/obo/MONDO_0015526 Crisponi syndrome|CISS|Sohar-Crisponi syndrome ordo_disease MONDO:0015525 congenital pseudoarthrosis of the limbs biolink:Disease mondo MESH:C535762|GARD:0009722|Orphanet:157808 MESH:C535762|ORPHA:157808 http://purl.obolibrary.org/obo/MONDO_0015525 congenital pseudarthrosis of the limbs|congenital pseudoarthrosis gard_rare|ordo_morphological_anomaly HGNC:9594 PTGER2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9594 MONDO:0015520 late infantile CACH syndrome biolink:Disease mondo UMLS:CN199659|Orphanet:157716|ICD10:E75.2 ORPHA:157716|UMLS:CN199659 http://purl.obolibrary.org/obo/MONDO_0015520 ordo_clinical_subtype CHEBI:76895 EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor biolink:ChemicalSubstance mondo An EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor that interferes with the action of any such enzyme that catalyses transmembrane movement of substances (EC 3.6.3.*). http://purl.obolibrary.org/obo/CHEBI_76895 EC 3.6.3.* inhibitors|EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitor|EC 3.6.3.* inhibitor MONDO:0003524 gastric gastrin-producing neuroendocrine tumor biolink:Disease mondo NCIT:C27444|UMLS:C1333767|DOID:5579 A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome. NCIT:C27444|UMLS:C1333767|DOID:5579 http://purl.obolibrary.org/obo/MONDO_0003524 stomach gastrin-producing neuroendocrine tumor|gastric gastrinoma|gastric G-cell gastrin producing tumor|gastrin-producing neuroendocrine tumor of stomach|gastric gastrin-producing NET|gastrin-producing neuroendocrine tumor of the stomach|gastric gastrin producing tumor|gastrin producing neuroendocrine tumor of the stomach|gastrin producing tumor of the stomach|gastric gastrin-producing neuroendocrine tumor MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor biolink:Disease mondo UMLS:C1368066|NCIT:C9069|MESH:D015408|DOID:5580 A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome. MESH:D015408|NCIT:C9069|DOID:5580|UMLS:C1368066 http://purl.obolibrary.org/obo/MONDO_0003525 islet cell tumor, ulcerogenic|pancreatic gastrin-producing neuroendocrine tumor|pancreatic gastrin producing tumor|pancreatic gastrinoma|pancreatic gastrin producing NET|gastrin-producing neuroendocrine tumor of pancreas|pancreas gastrin-producing neuroendocrine tumor|pancreatic G-cell tumor GO:0050962 detection of light stimulus involved in sensory perception biolink:OntologyClass mondo The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light. http://purl.obolibrary.org/obo/GO_0050962 sensory transduction of light stimulus|sensory perception, sensory detection of light stimulus|sensory detection of light stimulus during sensory perception|sensory perception, sensory transduction of light stimulus|sensory detection of light stimulus|sensory transduction of light stimulus during sensory perception HGNC:24579 CIB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/24579 HGNC:24576 CDT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24576 MONDO:0003526 obsolete lung giant cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003526 MONDO:0003527 obsolete Ferguson-Smith tumor biolink:Disease mondo A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae. http://purl.obolibrary.org/obo/MONDO_0003527 MONDO:0003520 obsolete malignant acrospiroma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003520 MONDO:0003521 obsolete VIPoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003521 MONDO:0003522 male orgasm disorder biolink:Disease mondo DOID:5576|COHD:444268|SCTID:81903006|ICD10:F52.32|NCIT:C34959 Persistent delay or absence in orgasm not accounted for by a medical reason. SNOMEDCT:81903006|DOID:5576|NCIT:C34959 http://purl.obolibrary.org/obo/MONDO_0003522 inhibited male orgasm|male orgasmic disorder MONDO:0003523 gastrin-producing neuroendocrine tumor biolink:Disease mondo DOID:5577|UMLS:CN206461|NCIT:C3050|ICDO:8153/1 A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine. UMLS:CN206461|NCIT:C3050|DOID:5577 http://purl.obolibrary.org/obo/MONDO_0003523 G cell tumor|gastrin secreting tumor|gastrin-producing NET|gastrinoma|G-cell tumor|gastrin cell tumour|malignant gastrinoma|gastrin-producing neuroendocrine tumor|G-cell gastrin producing tumor MONDO:0015509 genetic biliary tract disease biolink:Disease mondo Orphanet:156607|UMLS:CN199642 Genetic biliary tract disease. UMLS:CN199642|ORPHA:156607 http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease ordo_group_of_disorders MONDO:0015508 genetic parenchymatous liver disease biolink:Disease mondo UMLS:CN199641|Orphanet:156604 UMLS:CN199641|ORPHA:156604 http://purl.obolibrary.org/obo/MONDO_0015508 ordo_group_of_disorders MONDO:0015507 obsolete rare genetic hepatic disease biolink:Disease mondo UMLS:CN199640|Orphanet:156601 Rare genetic liver disease. UMLS:CN199640|ORPHA:156601 http://purl.obolibrary.org/obo/MONDO_0015507 rare genetic liver disease ordo_group_of_disorders|obsoletion_candidate MONDO:0040502 glucocorticoid deficiency 5 biolink:Disease mondo OMIM:617825 http://identifiers.org/omim/617825 http://purl.obolibrary.org/obo/MONDO_0040502 GCCD5|glucocorticoid deficiency 5; GCCD5 CL:0002485 retinal melanocyte biolink:Cell mondo A melanocyte of the retina. This cell type is distinct from pigmented retinal epithelium. http://purl.obolibrary.org/obo/CL_0002485 MONDO:0015513 obsolete rare genetic endocrine disease biolink:Disease mondo Orphanet:156638|UMLS:CN199645 A form of endocrine system disease that is both rare and inborn. UMLS:CN199645|ORPHA:156638 http://purl.obolibrary.org/obo/MONDO_0015513 rare genetic endocrine system disease ordo_group_of_disorders|obsoletion_candidate MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 biolink:Disease mondo OMIM:617821 http://identifiers.org/omim/617821 http://purl.obolibrary.org/obo/MONDO_0040501 EDS VIIB|EDSARTH2|EDS 7B|Ehlers-Danlos syndrome, arthrochalasia type, 2; EDSARTH2|Ehlers-Danlos syndrome, type VIIb, Autosomal dominant MONDO:0015512 genetic hypertension biolink:Disease mondo UMLS:C0598428|Orphanet:156629 An instance of hypertension that is caused by a modification of the individual's genome. ORPHA:156629|UMLS:C0598428 http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertensive disorder|genetic hypertension ordo_group_of_disorders CL:0002484 epithelial melanocyte biolink:Cell mondo A melanocyte that produces pigment in the epithelium. http://purl.obolibrary.org/obo/CL_0002484 MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 biolink:Disease mondo OMIM:617816 http://identifiers.org/omim/617816 http://purl.obolibrary.org/obo/MONDO_0040500 glycosylphosphatidylinositol biosynthesis defect 16; GPIBD16|intellectual disability, autosomal recessive 62|mental retardation, autosomal recessive 62|GPIBD16 MONDO:0015511 obsolete rare genetic urogenital disease biolink:Disease mondo Orphanet:156619|UMLS:CN199644 UMLS:CN199644|ORPHA:156619 http://purl.obolibrary.org/obo/MONDO_0015511 ordo_group_of_disorders|obsoletion_candidate MONDO:0015510 obsolete rare genetic respiratory disease biolink:Disease mondo UMLS:CN199643|Orphanet:156610 Rare genetic respiratory system disease. UMLS:CN199643|ORPHA:156610 http://purl.obolibrary.org/obo/MONDO_0015510 rare genetic respiratory system disease obsoletion_candidate|ordo_group_of_disorders HGNC:12597 USH1C biolink:OntologyClass mondo http://identifiers.org/hgnc/12597 MONDO:0015517 common variable immunodeficiency biolink:Disease mondo UMLS:C0009447|COHD:435228|MedDRA:10021449|SCTID:23238000|ICD10:D83.8|GARD:0006140|Orphanet:1572|MESH:D017074|NCIT:C26725|ICD9:279.06|DOID:12177|OMIMPS:607594|ICD10:D83|ICD10:D83.2|ICD10:D83.9|ICD10:D83.1|ICD10:D83.0 Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria. MEDDRA:10021449|DOID:12177|MESH:D017074|SNOMEDCT:23238000|NCIT:C26725|UMLS:C0009447|ORPHA:1572 http://purl.obolibrary.org/obo/MONDO_0015517 common variable agammaglobulinemia|common variable hypogamma-globulinemia|Immunoglobulin deficiency, late-onset|primary hypogammaglobulinemia|common variable immune deficiency|CVID|acquired hypogammaglobulinemia|sporadic hypogammaglobulinemia|idiopathic immunoglobulin deficiency|primary antibody deficiency|secondary hypogammaglobulinemia|acquired agammaglobulinemia|hypogamma-globulinemia, acquired ordo_disease CL:0002489 double negative thymocyte biolink:Cell mondo A thymocyte that lacks expression of CD4 and CD8. http://purl.obolibrary.org/obo/CL_0002489 CD4-CD8- T cell|double negative T cell MONDO:0015516 symbrachydactyly of hands and feet biolink:Disease mondo ICD10:Q73.8|Orphanet:1570 Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails. ORPHA:1570 http://purl.obolibrary.org/obo/MONDO_0015516 De Smet-Fabry-Fryns syndrome ordo_malformation_syndrome MONDO:0015515 carnitine palmitoyltransferase II deficiency biolink:Disease mondo ICD9:277.85|SCTID:238002005|NCIT:C114766|ICD10:E71.3|GARD:0001121|MESH:C535589|HGNC:2330|UMLS:C0342790|Orphanet:157|DOID:0060235 Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form. UMLS:C0342790|MESH:C535589|DOID:0060235|NCIT:C114766|SNOMEDCT:238002005|ORPHA:157 http://purl.obolibrary.org/obo/MONDO_0015515 Carnitine palmitoyltransferase deficiency type 2|Carnitine palmitoyltransferase 2 deficiency|CPT II deficiency|Carnitine palmitoyltransferase II (CPT II) deficiency|CPT2|CPT-II|CPTII|infantile carnitine palmitoyltransferase II deficiency|late-onset carnitine palmitoyltransferase II deficiency|lethal neonatal carnitine palmitoyltransferase II deficiency ordo_disease|gard_rare MONDO:0040503 blepharocheilodontic syndrome 2 biolink:Disease mondo DOID:0080346|UMLS:C4540127|OMIM:617681 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene. DOID:0080346|http://identifiers.org/omim/617681|UMLS:C4540127 http://purl.obolibrary.org/obo/MONDO_0040503 BCDS2|blepharo-cheilo-odontic syndrome caused by mutation in CTNND1|BLEPHAROCHEILODONTIC syndrome 2; BCDS2|CTNND1 blepharo-cheilo-odontic syndrome MONDO:0015514 genetic endocrine growth disease biolink:Disease mondo MESH:D006130|Orphanet:156643|UMLS:CN237424 MESH:D006130|ORPHA:156643|UMLS:CN237424 http://purl.obolibrary.org/obo/MONDO_0015514 growth disorder ordo_group_of_disorders HGNC:12592 UROS biolink:OntologyClass mondo http://identifiers.org/hgnc/12592 HGNC:12591 UROD biolink:OntologyClass mondo http://identifiers.org/hgnc/12591 MONDO:0003517 mature teratoma biolink:Disease mondo NCIT:C9015|DOID:5566|ONCOTREE:VMT|UMLS:C1368910|SCTID:254875009|ICDO:9080/0 A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. DOID:5566|SNOMEDCT:254875009|UMLS:C1368910|NCIT:C9015 http://purl.obolibrary.org/obo/MONDO_0003517 mature teratoma CL:0002481 peritubular myoid cell biolink:Cell mondo The flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule. http://purl.obolibrary.org/obo/CL_0002481 HP:0020064 Abnormal eosinophil count biolink:PhenotypicFeature mondo Any deviation from the normal number of eosinophils per volume in the blood circulation. http://purl.obolibrary.org/obo/HP_0020064 GO:2001170 negative regulation of ATP biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process. http://purl.obolibrary.org/obo/GO_2001170 negative regulation of ATP synthesis|negative regulation of ATP formation|negative regulation of ATP biosynthesis|negative regulation of ATP anabolism|negative regulation of ATP regeneration GO:2001171 positive regulation of ATP biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of ATP biosynthetic process. http://purl.obolibrary.org/obo/GO_2001171 positive regulation of ATP synthesis|positive regulation of ATP formation|positive regulation of ATP regeneration|positive regulation of ATP anabolism|positive regulation of ATP biosynthesis MONDO:0003518 mediastinum teratoma biolink:Disease mondo DOID:5568|NCIT:C6438|UMLS:C1334682 A teratoma that involves the mediastinum. DOID:5568|NCIT:C6438|UMLS:C1334682 http://purl.obolibrary.org/obo/MONDO_0003518 mediastinum teratoma|teratoma of mediastinum MONDO:0003519 malignant syringoma biolink:Disease mondo UMLS:C0346027|DOID:5569|SCTID:254712007|NCIT:C7581|ONCOTREE:MAC|GARD:0010438 A malignant form of syringoma. DOID:5569|NCIT:C7581|SNOMEDCT:254712007|UMLS:C0346027 http://purl.obolibrary.org/obo/MONDO_0003519 MAC|syringomatous carcinoma|microcystic adnexal carcinoma|microcystic adnexal carcinoma of skin|syringoma, malignant HGNC:12593 USF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12593 MONDO:0003535 fallopian tube papillary adenocarcinoma biolink:Disease mondo DOID:5597|NCIT:C6267|UMLS:C1333595 An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern. NCIT:C6267|UMLS:C1333595|DOID:5597 http://purl.obolibrary.org/obo/MONDO_0003535 papillary adenocarcinoma of fallopian tube|fallopian tube papillary adenocarcinoma|papillary adenocarcinoma of the fallopian tube MONDO:0003536 obsolete fallopian tube serous adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003536 MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia biolink:Disease mondo DOID:5599|ICDO:9837/3|NCIT:C8694|UMLS:C1301359 A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001) NCIT:C8694|DOID:5599|UMLS:C1301359 http://purl.obolibrary.org/obo/MONDO_0003537 precursor T-lymphoblastic lymphoma/leukemia|precursor T lymphoblastic lymphoma/leukemia|T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic leukemia/lymphoma CHEBI:27902 tetracycline biolink:ChemicalSubstance mondo A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. http://purl.obolibrary.org/obo/CHEBI_27902 (4S,4aS,5aS,12aS)-4-(Dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide|Tetrazyklin|Tetracyclin|Tsiklomitsin|TETRACYCLINE|tetracycline|Tetracycline|Anhydrotetracycline|tetracycline|tetracyclinum|Liquamycin|Abramycin|(4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide|Deschlorobiomycin|Achromycin HGNC:24587 FAM126A biolink:OntologyClass mondo http://identifiers.org/hgnc/24587 MONDO:0003538 precursor lymphoblastic lymphoma/leukemia biolink:Disease mondo DOID:5600|EFO:0009119|UMLS:C1335469|NCIT:C7055 A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003 UMLS:C1335469|DOID:5600|NCIT:C7055 http://purl.obolibrary.org/obo/MONDO_0003538 precursor lymphoblastic leukemia/lymphoma|precursor lymphoid neoplasm|precursor lymphoblastic lymphoma/leukemia MONDO:0003531 papillary eccrine carcinoma biolink:Disease mondo SCTID:254709009|DOID:5591|UMLS:C1367774|NCIT:C27254 UMLS:C1367774|DOID:5591|SNOMEDCT:254709009|NCIT:C27254 http://purl.obolibrary.org/obo/MONDO_0003531 tubular apocrine adenoma|papillary apocrine fibroadenoma|papillary eccrine carcinoma|papillary eccrine adenoma|eccrine papillary adenocarcinoma|digital papillary adenocarcinoma MONDO:0003532 breast papillary carcinoma biolink:Disease mondo NCIT:C9134|DOID:5592|UMLS:C3812899|UMLS:C1336027 A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells. UMLS:C1336027|UMLS:C3812899|NCIT:C9134|DOID:5592 http://purl.obolibrary.org/obo/MONDO_0003532 papillary carcinoma of breast|papillary carcinoma of the breast|solid papillary carcinoma of the breast|Papillary breast cancer|breast solid papillary carcinoma|breast papillary carcinoma|papillary breast carcinoma MONDO:0003533 obsolete gastric papillary adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003533 GO:0050975 sensory perception of touch biolink:OntologyClass mondo The series of events required for an organism to receive a touch stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. The perception of touch in animals is mediated by mechanoreceptors in the skin and mucous membranes and is the sense by which contact with objects gives evidence as to certain of their qualities. Different types of touch can be perceived (for example, light, coarse, pressure and tickling) and the stimulus may be external or internal (e.g. the feeling of a full stomach). http://purl.obolibrary.org/obo/GO_0050975 taction|tactile sense|perception of touch|tactition MONDO:0003534 papillary thymic adenocarcinoma biolink:Disease mondo DOID:5595|NCIT:C27937|UMLS:C1335327 A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis. NCIT:C27937|UMLS:C1335327|DOID:5595 http://purl.obolibrary.org/obo/MONDO_0003534 thymus papillary adenocarcinoma|papillary carcinoma of the Thymus|Thymus papillary carcinoma|thymic papillary carcinoma|papillary carcinoma of Thymus|thymic papillary adenocarcinoma UBERON:0012375 subserosa biolink:AnatomicalEntity mondo A layer of tissue between the muscularis and serosa. http://purl.obolibrary.org/obo/UBERON_0012375 UBERON:0012373 sympathetic nerve plexus biolink:AnatomicalEntity mondo A nerve plexus that is part of a sympathetic nervous system. http://purl.obolibrary.org/obo/UBERON_0012373 MONDO:0003530 aggressive digital papillary adenocarcinoma biolink:Disease mondo DOID:5590|ONCOTREE:ADPA DOID:5590 http://purl.obolibrary.org/obo/MONDO_0003530 UBERON:0012378 muscle layer of urinary bladder biolink:AnatomicalEntity mondo A muscular coat that is part of a urinary bladder. http://purl.obolibrary.org/obo/UBERON_0012378 muscle layer of urinary bladder|muscular coat of bladder|muscular layer of bladder|tunica muscularis (vesica urinaria)|tunica musculari vesicae|bladder muscular coat|muscular coat of urinary bladder|muscular layer of urinary bladder UBERON:0012377 muscle layer of jejunum biolink:AnatomicalEntity mondo A muscular coat that is part of a jejunum. http://purl.obolibrary.org/obo/UBERON_0012377 muscularis externa of jejunum|muscularis propria of jejunum|jejunal smooth muscle|smooth muscle of jejunum UBERON:0000390 lens nucleus biolink:AnatomicalEntity mondo The core of the crystalline lens, surrounded by the cortex. http://purl.obolibrary.org/obo/UBERON_0000390 nucleus of lens MONDO:0015502 pinnae and external auditory canal anomaly biolink:Disease mondo Orphanet:156243 ORPHA:156243 http://purl.obolibrary.org/obo/MONDO_0015502 ordo_group_of_disorders UBERON:0000391 leptomeninx biolink:AnatomicalEntity mondo pia mater or arachnoid mater. http://purl.obolibrary.org/obo/UBERON_0000391 pia-arachnoid|arachnoid mater and pia mater|pia-arachnoid of neuraxis|arachnoidea mater et pia mater|leptomeninges MONDO:0015501 syndrome or malformation associated with head and neck malformations biolink:Disease mondo UMLS:CN199635|Orphanet:156237 UMLS:CN199635|ORPHA:156237 http://purl.obolibrary.org/obo/MONDO_0015501 ordo_group_of_disorders MONDO:0015500 facial arteriovenous malformation biolink:Disease mondo GARD:0012663|Orphanet:156230|ICD10:Q27.3 Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy. ORPHA:156230 http://purl.obolibrary.org/obo/MONDO_0015500 ordo_group_of_disorders|gard_rare MONDO:0015506 rare syndrome with cardiac malformations biolink:Disease mondo Orphanet:156532|UMLS:CN199638 UMLS:CN199638|ORPHA:156532 http://purl.obolibrary.org/obo/MONDO_0015506 obsoletion_candidate|ordo_group_of_disorders MONDO:0015505 tracheal anomaly biolink:Disease mondo Orphanet:156252 ORPHA:156252 http://purl.obolibrary.org/obo/MONDO_0015505 ordo_group_of_disorders MONDO:0015504 larynx anomaly biolink:Disease mondo ICD10:Q31.0|ICD10:Q31.1|ICD10:Q31.9|ICD10:Q31.8|ICD10:Q31.5|Orphanet:156249|ICD10:Q31.3 ORPHA:156249 http://purl.obolibrary.org/obo/MONDO_0015504 ordo_group_of_disorders MONDO:0015503 nose and cavum anomaly biolink:Disease mondo Orphanet:156246|ICD10:Q30.9|ICD10:Q30.8|ICD10:Q30.3|ICD10:Q30.2|ICD10:Q30.1|ICD10:Q30.0 ORPHA:156246 http://purl.obolibrary.org/obo/MONDO_0015503 ordo_group_of_disorders UBERON:0000398 cartilage tissue of sternum biolink:AnatomicalEntity mondo Any portion of cartilage tissue that is part of the sternum http://purl.obolibrary.org/obo/UBERON_0000398 cartilage of sternum UBERON:0000399 jejunal mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a jejunum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000399 mucous membrane of jejunum|jejunum mucosa of organ|organ mucosa of jejunum|mucosa of jejunum|jejunal mucous membrane|jejunum mucosa|jejunum organ mucosa|jejunum mucous membrane|mucosa of organ of jejunum MONDO:0003528 Volkmann contracture biolink:Disease mondo MESH:D054061|NCIT:C35130|SCTID:111247001|DOID:5587|ICD10:T79.6|ICD9:958.6|UMLS:C0042951 An ischemic contracture of the forearm that most often occurs secondary to trauma. DOID:5587|UMLS:C0042951|SNOMEDCT:111247001|NCIT:C35130|MESH:D054061 http://purl.obolibrary.org/obo/MONDO_0003528 Volkmann's ischemic contracture MONDO:0003529 acute pyelonephritis biolink:Disease mondo ICD9:590.1|COHD:4280571|DOID:559|SCTID:36689008|NCIT:C123215|ICD10:N10|UMLS:C0520575 Sudden onset pyelonephritis. DOID:559|SNOMEDCT:36689008|UMLS:C0520575|NCIT:C123215 http://purl.obolibrary.org/obo/MONDO_0003529 pyelonephritis, acute UBERON:0000395 cochlear ganglion biolink:AnatomicalEntity mondo The group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)[MP]. distributed to the hair cells of the spiral organ. The cochlear fibers arise in bipolar cells in the spiral ganglion in the modiolus. http://purl.obolibrary.org/obo/UBERON_0000395 spiral ganglion of cochlea|Corti's ganglion|ganglion spirale cochleae|cochlear part of vestibulocochlear ganglion|ganglion of Corti|vestibulocochlear VIII ganglion cochlear component|ganglion cochlearis|spiral ganglion|vestibulocochlear ganglion cochlear component|ganglion spirale CL:0002494 cardiocyte biolink:Cell mondo CALOHA:TS-0115|FMA:84791|BTO:0001539|FMA:83808 A cell located in the heart, including both muscle and non muscle cells. http://purl.obolibrary.org/obo/CL_0002494 heart cell UBERON:0000397 colonic epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000397 large bowel epithelium|epithelial tissue of colon|epithelium of large bowel|epithelial tissue of large bowel|colon epithelial tissue|colon epithelium|large bowel epithelial tissue|posterior intestine epithelium|epithelium of colon NCBITaxon:1502 Clostridium perfringens organism taxon mondo PMID:1374625|GC_ID:11|PMID:184898 http://purl.obolibrary.org/obo/NCBITaxon_1502 Bacterium welchii|Bacillus perfringens|Clostridium plagarum|'Clostridium plagarum' MONDO:0003586 esophagus liposarcoma biolink:Disease mondo UMLS:C1333456|NCIT:C5705|DOID:5694 A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation. UMLS:C1333456|DOID:5694|NCIT:C5705 http://purl.obolibrary.org/obo/MONDO_0003586 liposarcoma of the esophagus|esophagus liposarcoma|esophageal liposarcoma|liposarcoma of esophagus MONDO:0003587 pediatric liposarcoma biolink:Disease mondo NCIT:C8091|UMLS:C0279984|DOID:5695 A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. NCIT:C8091|DOID:5695|UMLS:C0279984 http://purl.obolibrary.org/obo/MONDO_0003587 liposarcoma|pediatric liposarcoma|childhood liposarcoma MONDO:0003588 larynx liposarcoma biolink:Disease mondo NCIT:C6021|UMLS:C1334372|DOID:5696 A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement. DOID:5696|NCIT:C6021|UMLS:C1334372 http://purl.obolibrary.org/obo/MONDO_0003588 laryngeal liposarcoma|liposarcoma of larynx|larynx liposarcoma|lip larynx sarcoma|liposarcoma of the larynx MONDO:0003589 liposarcoma of the ovary biolink:Disease mondo UMLS:C1335165|NCIT:C6419|DOID:5697 A malignant adipose tissue neoplasm of the ovary. DOID:5697|NCIT:C6419|UMLS:C1335165 http://purl.obolibrary.org/obo/MONDO_0003589 liposarcoma of ovary|ovary liposarcoma|ovarian liposarcoma MONDO:0003582 hereditary breast ovarian cancer syndrome biolink:Disease mondo NCIT:C8493|OMIMPS:604370|MESH:D061325|GARD:0012352|ICD10:C56|GARD:0012351|DOID:5683|DC:0000638|Orphanet:145|UMLS:C0677776|SCTID:718220008|ICD10:C50 An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. ORPHA:145|SNOMEDCT:718220008|DOID:5683|NCIT:C8493|MESH:D061325|UMLS:C0677776 http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast and ovarian cancer syndrome|syndromes, HBOC|syndrome, HBOC|breast-ovarian cancer, familial, susceptibility to|HBOC syndrome|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)|hereditary breast ovarian cancer|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer|HBOC syndromes|hereditary breast and ovarian cancer|hereditary breast/ovarian cancer (BRCA1, BRCA2)|familial breast and ovarian cancer syndrome|familial breast/ovarian cancer (BRCA1, BRCA2) predisposition|ordo_disease|clingen GO:0106119 negative regulation of sterol biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of a sterol biosynthetic process. http://purl.obolibrary.org/obo/GO_0106119 MONDO:0003583 obsolete atypical lipomatous tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003583 GO:0106118 regulation of sterol biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a sterol biosynthetic process. http://purl.obolibrary.org/obo/GO_0106118 MONDO:0003584 visual cortex disease biolink:Disease mondo UMLS:C0234398|SCTID:128329001|ICD10:H47.6|DOID:5691|ICD9:377.7 A disease involving the visual cortex. DOID:5691|SNOMEDCT:128329001|UMLS:C0234398 http://purl.obolibrary.org/obo/MONDO_0003584 visual cortex disease|disorder of visual cortex|disease or disorder of visual cortex|visual cortex dysfunction|disease of visual cortex|visual cortex disorder|visual cortex disease or disorder|disorder of visual cortex MONDO:0003585 adult liposarcoma biolink:Disease mondo NCIT:C7811|UMLS:C0278608|DOID:5693 A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. UMLS:C0278608|DOID:5693|NCIT:C7811 http://purl.obolibrary.org/obo/MONDO_0003585 liposarcoma|adult liposarcoma|liposarcoma of adults MONDO:0003580 obsolete embryonal testis carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003580 UBERON:0036337 wall of appendix biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036337 appendix wall|wall of vermiform appendix MONDO:0003581 ovarian embryonal carcinoma biolink:Disease mondo SCTID:254872007|NCIT:C8108|UMLS:C0346183|DOID:5681|EFO:1000415|ONCOTREE:OEC An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain. NCIT:C8108|DOID:5681|SNOMEDCT:254872007|UMLS:C0346183 http://purl.obolibrary.org/obo/MONDO_0003581 ovary embryonal carcinoma|embryonal carcinoma of the ovary|embryonal carcinoma|embryonal carcinoma of ovary|ovarian embryonal carcinoma MONDO:0015579 Hb Bart's hydrops fetalis biolink:Disease mondo SCTID:5300004|Orphanet:163596|ICD9:282.49|ICD10:D56.0 Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. ORPHA:163596|SNOMEDCT:5300004 http://purl.obolibrary.org/obo/MONDO_0015579 homozygous alpha0-thalassemia|Alpha-thalassemia hydrops fetalis|Hemoglobin Bart's hydrops fetalis|Alpha-thalassemia major ordo_clinical_subtype MONDO:0015578 obsolete rare mycosis biolink:Disease mondo Orphanet:163591 Rare fungal infectious disease. ORPHA:163591 http://purl.obolibrary.org/obo/MONDO_0015578 rare fungal infectious disease ordo_group_of_disorders|obsoletion_candidate UBERON:0036328 wall of coronary artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036328 coronary arterial wall MONDO:0015577 obsolete rare parasitic disease biolink:Disease mondo UMLS:CN199940|Orphanet:163588 Any of the forms of parasitic infection that have a rare incidence. ORPHA:163588|UMLS:CN199940 http://purl.obolibrary.org/obo/MONDO_0015577 rare parasitic infection|rare parasitic infectious disease ordo_group_of_disorders|obsoletion_candidate CL:0002465 CD11b-positive dendritic cell biolink:Cell mondo A conventional dendritic cell that expresses CD11b (ITGAM). http://purl.obolibrary.org/obo/CL_0002465 MONDO:0015576 obsolete rare viral disease biolink:Disease mondo Orphanet:163585|UMLS:CN199939 Rare viral disease. ORPHA:163585|UMLS:CN199939 http://purl.obolibrary.org/obo/MONDO_0015576 rare viral infectious disease|rare viral disease ordo_group_of_disorders|obsoletion_candidate HP:0032039 Abnormality of the ocular adnexa biolink:PhenotypicFeature mondo An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/HP_0032039 MONDO:0015571 deletion 5q35 biolink:Disease mondo MESH:C537647|ICD10:Q93.5|SCTID:721158009|Orphanet:1627 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. ORPHA:1627|MESH:C537647|SNOMEDCT:721158009 http://purl.obolibrary.org/obo/MONDO_0015571 deletion type 5q35|Del (5)(qter)|Del (5)(q35)|monosomy 5q35|distal 5q deletion|telomeric deletion 5q ordo_malformation_syndrome MONDO:0015570 isolated congenital auditory ossicle malformation biolink:Disease mondo ICD10:Q16.3|Orphanet:162526 Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance. ORPHA:162526 http://purl.obolibrary.org/obo/MONDO_0015570 congenital auditory ossicle malformation without external ear abnormality ordo_morphological_anomaly MONDO:0015575 obsolete rare bacterial infectious disease biolink:Disease mondo Orphanet:163582 Rare bacterial infectious disease. ORPHA:163582 http://purl.obolibrary.org/obo/MONDO_0015575 rare bacterial infectious disease ordo_group_of_disorders|obsoletion_candidate NCBITaxon:2082224 Strongyloidoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2082224 MONDO:0015574 chronic cutaneous lupus erythematosus biolink:Disease mondo Orphanet:163531|MedDRA:10057929|ICD10:L93.2|ICD10:L93.0|UMLS:CN226705 Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis. UMLS:CN226705|ORPHA:163531|MEDDRA:10057929 http://purl.obolibrary.org/obo/MONDO_0015574 cutaneous lupus erythematosus, chronic ordo_group_of_disorders NCBITaxon:2082223 Panagrolaimomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2082223 MONDO:0015573 subacute cutaneous lupus erythematosus biolink:Disease mondo NCIT:C117111|MedDRA:10057903|UMLS:C0024140|SCTID:239891002|Orphanet:163525|ICD10:L93.1 Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced. SNOMEDCT:239891002|UMLS:C0024140|ORPHA:163525|MEDDRA:10057903|NCIT:C117111 http://purl.obolibrary.org/obo/MONDO_0015573 ordo_disease HGNC:12572 UNG biolink:OntologyClass mondo http://identifiers.org/hgnc/12572 MONDO:0015572 cerebral malformation due to abnormal neuronal migration biolink:Disease mondo Orphanet:163209|ICD10:Q04.8 ORPHA:163209 http://purl.obolibrary.org/obo/MONDO_0015572 non-syndromic cerebral malformation due to abnormal neuronal migration|brain malformation due to abnormal neuronal migration ordo_group_of_disorders CL:0002460 CD8alpha-negative thymic conventional dendritic cell biolink:Cell mondo A conventional thymic dendritic cell that is CD8alpha-negative. http://purl.obolibrary.org/obo/CL_0002460 DC.8-.Th GO:0050994 regulation of lipid catabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of lipids. http://purl.obolibrary.org/obo/GO_0050994 regulation of lipid catabolism|regulation of lipid degradation|regulation of lipid breakdown GO:0106122 negative regulation of cobalamin metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process. http://purl.obolibrary.org/obo/GO_0106122 GO:0050995 negative regulation of lipid catabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. http://purl.obolibrary.org/obo/GO_0050995 downregulation of lipid catabolic process|negative regulation of lipid degradation|inhibition of lipid catabolic process|negative regulation of lipid breakdown|negative regulation of lipid catabolism|down-regulation of lipid catabolic process|down regulation of lipid catabolic process GO:0106121 positive regulation of cobalamin metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a cobalamin metabolic process. http://purl.obolibrary.org/obo/GO_0106121 HGNC:24565 KANSL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24565 GO:0106120 positive regulation of sterol biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a sterol biosynthetic process. http://purl.obolibrary.org/obo/GO_0106120 NCBITaxon:1513 Clostridium tetani organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1513 Bacillus tetani MONDO:0003597 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003597 MONDO:0003598 median nerve neuropathy biolink:Disease mondo ICD10:G56.1|ICD9:354.1|ICD10:G56.10|SCTID:397828008|MESH:D020423|DOID:571 Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome). DOID:571|SNOMEDCT:397828008|MESH:D020423 http://purl.obolibrary.org/obo/MONDO_0003598 median nerve palsy|median nerve peripheral neuropathy|median neuropathy|peripheral neuropathy of median nerve MONDO:0003599 vulvar liposarcoma biolink:Disease mondo UMLS:C2184082|DOID:5711|NCIT:C40321 A rare malignant adipose tissue neoplasm of the vulva. DOID:5711|UMLS:C2184082|NCIT:C40321 http://purl.obolibrary.org/obo/MONDO_0003599 liposarcoma of mammalian vulva|mammalian vulva liposarcoma|vulvar liposarcoma GO:0050996 positive regulation of lipid catabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. http://purl.obolibrary.org/obo/GO_0050996 up-regulation of lipid catabolic process|positive regulation of lipid breakdown|up regulation of lipid catabolic process|activation of lipid catabolic process|stimulation of lipid catabolic process|upregulation of lipid catabolic process|positive regulation of lipid catabolism|positive regulation of lipid degradation MONDO:0003593 breast liposarcoma biolink:Disease mondo DOID:5701|NCIT:C5187|UMLS:C1332632 A malignant adipose tissue neoplasm of the breast. UMLS:C1332632|DOID:5701|NCIT:C5187 http://purl.obolibrary.org/obo/MONDO_0003593 liposarcoma of breast|liposarcoma of the breast|breast liposarcoma UBERON:0036343 wall of gallbladder biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036343 gallbladder wall MONDO:0003594 mixed liposarcoma biolink:Disease mondo NCIT:C4253|ICDO:8855/3|UMLS:C0334472|DOID:5703 A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma. DOID:5703|NCIT:C4253|UMLS:C0334472 http://purl.obolibrary.org/obo/MONDO_0003594 mixed liposarcoma|mixed liposarcoma (morphologic abnormality) MONDO:0003595 sclerosing liposarcoma biolink:Disease mondo SCTID:404068003|ICD9:171.9|DOID:5704|UMLS:C0334469|NCIT:C6507 A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma. DOID:5704|SNOMEDCT:404068003|NCIT:C6507|UMLS:C0334469 http://purl.obolibrary.org/obo/MONDO_0003595 MONDO:0003596 spindle cell liposarcoma biolink:Disease mondo SCTID:404073009|NCIT:C27489|UMLS:C1275275|ICD9:171.9|DOID:5705 A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma. SNOMEDCT:404073009|DOID:5705|NCIT:C27489|UMLS:C1275275 http://purl.obolibrary.org/obo/MONDO_0003596 spindle cell liposarcoma MONDO:0003590 fibroblastic liposarcoma biolink:Disease mondo DOID:5698|NCIT:C6509|ICDO:8857/3|UMLS:C1266130 A liposarcoma characterized by the presence of a fibroblastic component. NCIT:C6509|UMLS:C1266130|DOID:5698 http://purl.obolibrary.org/obo/MONDO_0003590 fibroblastic liposarcoma (morphologic abnormality)|fibroblastic liposarcoma HGNC:24564 C2CD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/24564 MONDO:0003591 kidney liposarcoma biolink:Disease mondo DOID:5699|NCIT:C6185|UMLS:C1335745 A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis. NCIT:C6185|UMLS:C1335745|DOID:5699 http://purl.obolibrary.org/obo/MONDO_0003591 renal liposarcoma|liposarcoma of the kidney|liposarcoma of kidney|kidney liposarcoma MONDO:0003592 gastric liposarcoma biolink:Disease mondo UMLS:C1333778|DOID:5700|NCIT:C5488 A malignant adipose tissue neoplasm of the stomach. DOID:5700|NCIT:C5488|UMLS:C1333778 http://purl.obolibrary.org/obo/MONDO_0003592 liposarcoma of the stomach|stomach liposarcoma|liposarcoma of stomach|gastric liposarcoma MONDO:0015568 isolated congenital nasal pyriform aperture stenosis biolink:Disease mondo ICD10:Q30.8|Orphanet:162516 ORPHA:162516 http://purl.obolibrary.org/obo/MONDO_0015568 isolated apertura pyriformis stenosis|isolated nasal pyriform aperture hypoplasia ordo_malformation_syndrome MONDO:0015567 cataract-glaucoma syndrome biolink:Disease mondo UMLS:CN199931|Orphanet:162|ICD10:Q12.0|SCTID:718851007 Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. ORPHA:162|SNOMEDCT:718851007|UMLS:CN199931 http://purl.obolibrary.org/obo/MONDO_0015567 ordo_malformation_syndrome MONDO:0015566 2q24 microdeletion syndrome biolink:Disease mondo MESH:C538316|UMLS:CN036809|ICD10:Q93.5|SCTID:719658006|Orphanet:1617|GARD:0003746 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. MESH:C538316|ORPHA:1617|UMLS:CN036809|UMLS:C2931816|SNOMEDCT:719658006 http://purl.obolibrary.org/obo/MONDO_0015566 2q24 deletion|Del(2)(q24)|chromosome 2q24 microdeletion syndrome|monosomy 2q24|deletion 2q24 ordo_malformation_syndrome GO:0060300 regulation of cytokine activity biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. http://purl.obolibrary.org/obo/GO_0060300 MONDO:0015565 cap polyposis biolink:Disease mondo UMLS:C4303971|ICD10:D12.6|SCTID:720604008|Orphanet:160148 Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea. SNOMEDCT:720604008|UMLS:C4303971|ORPHA:160148 http://purl.obolibrary.org/obo/MONDO_0015565 Cap inflammatory polyposis|polypoid prolapsing folds|eroded polypoid hyperplasia|inflammatory myoglandular polyps ordo_disease HGNC:12586 UQCRC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/12586 GO:0060301 positive regulation of cytokine activity biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. http://purl.obolibrary.org/obo/GO_0060301 GO:0060302 negative regulation of cytokine activity biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. http://purl.obolibrary.org/obo/GO_0060302 MONDO:0015569 congenital nasal pyriform aperture stenosis with holoprosencephaly biolink:Disease mondo Orphanet:162521|ICD10:Q30.8 ORPHA:162521 http://purl.obolibrary.org/obo/MONDO_0015569 apertura pyriformis with holoprosencephaly ordo_malformation_syndrome GO:0098936 intrinsic component of postsynaptic membrane biolink:OntologyClass mondo The component of the postsynaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/GO_0098936 intrinsic to postsynaptic membrane MONDO:0015560 obsolete classic mast cell leukemia biolink:Disease mondo Orphanet:158796|ICD10:C94.3 ORPHA:158796 http://purl.obolibrary.org/obo/MONDO_0015560 MONDO:0015564 Castleman disease biolink:Disease mondo UMLS:CN199886|MedDRA:10050251|EFO:1001332|Orphanet:160|UMLS:C2931179|NCIT:C3056|GARD:0000673|ICD10:D47.4|UMLS:C0017531|ICD10:D47.Z2|DOID:0111157|GARD:0012656|SCTID:207036003 Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms. ORPHA:160|DOID:0111157|MESH:C536362|MEDDRA:10050251|UMLS:C2931179|UMLS:CN199886|SNOMEDCT:207036003|UMLS:C0017531|MESH:D005871|NCIT:C3056 http://purl.obolibrary.org/obo/MONDO_0015564 angiofollicular lymph node hyperplasia|Castleman's disease|angiofollicular lymphoid hyperplasia|AFLH|GLNH|ALNH|angiofollicular ganglionic hyperplasia|lymphoid hamartoma|giant lymph node hyperplasia|angiofollicular lymph node hyperplasia|Castleman disease|Castleman's tumor|angiofollicular lymph hyperplasia gard_rare|ordo_disease MONDO:0015563 obsolete blue cone monochromatism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015563 MONDO:0015562 distal monosomy 17q biolink:Disease mondo UMLS:C4275171|Orphanet:1597|SCTID:715365000|GARD:0010972|ICD10:Q93.5 Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2). ORPHA:1597|UMLS:C4275171|SNOMEDCT:715365000 http://purl.obolibrary.org/obo/MONDO_0015562 chromosome 17q deletion|deletion 17q|distal 17q deletion|distal monosomy type 17q|monosomy 17q|partial monosomy 17q|17q deletion|monosomy 17qter|telomeric deletion 17q|17q monosomy ordo_malformation_syndrome MONDO:0015561 aleukemic mast cell leukemia biolink:Disease mondo Orphanet:158799|ICD10:C94.3 10%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (e.g. hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or, less frequently, cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported. ORPHA:158799 http://purl.obolibrary.org/obo/MONDO_0015561 ordo_disease HGNC:12582 UQCRB biolink:OntologyClass mondo http://identifiers.org/hgnc/12582 MONDO:0003568 disorder of optic chiasm biolink:Disease mondo SCTID:70476006|UMLS:C0155307|ICD10:H47.4|DOID:5655|ICD9:377.63|ICD9:377.5 A disease that involves the optic chiasma. SNOMEDCT:70476006|DOID:5655|UMLS:C0155307 http://purl.obolibrary.org/obo/MONDO_0003568 disorder of optic chiasm|chiasmal syndrome|disorder of optic chiasma|disease or disorder of optic chiasma|chiasma syndrome|optic chiasma disease or disorder|optic chiasma disease|disease of optic chiasma|disorder of optic chiasma MONDO:0003569 cranial nerve neuropathy biolink:Disease mondo NCIT:C26733|COHD:441848|MESH:D003389|SCTID:73013002|DOID:5656|ICD9:352.9|UMLS:C0010266|ICD10:G52.9 A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. NCIT:C26733|MESH:D003389|DOID:5656|SNOMEDCT:73013002|UMLS:C0010266 http://purl.obolibrary.org/obo/MONDO_0003569 cranial neuropathy|cranial neuron projection bundle disease or disorder|cranial nerve disease|disorder of cranial neuron projection bundle|cranial nerve disorder|disease of cranial neuron projection bundle|cranial nerve disease|cranial nerve disorder|disorder of cranial neuron projection bundle|disorder of cranial nerve|disease or disorder of cranial neuron projection bundle|cranial neuron projection bundle disease MONDO:0003564 localized pulmonary fibrosis biolink:Disease mondo UMLS:C0340127|NCIT:C27103|DOID:5642|SCTID:233726000 Replacement of the lung tissue by connective tissue in a specific area of the lung. DOID:5642|NCIT:C27103|UMLS:C0340127|SNOMEDCT:233726000 http://purl.obolibrary.org/obo/MONDO_0003564 HGNC:24539 NECAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24539 MONDO:0003565 urethral villous adenoma biolink:Disease mondo UMLS:C1519828|NCIT:C39872|DOID:5643 An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern. DOID:5643|UMLS:C1519828|NCIT:C39872 http://purl.obolibrary.org/obo/MONDO_0003565 urethral villous adenoma|urethra villous adenoma UBERON:0036352 wall of subclavian artery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036352 subclavian arterial wall MONDO:0003566 obsolete choroid plexus carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003566 HGNC:24537 CHMP2B biolink:OntologyClass mondo http://identifiers.org/hgnc/24537 MONDO:0003567 bilateral hypoactive labyrinth biolink:Disease mondo SCTID:194375009|UMLS:C0155518|DOID:565|ICD9:386.54 SNOMEDCT:194375009|DOID:565|UMLS:C0155518 http://purl.obolibrary.org/obo/MONDO_0003567 hypoactive labyrinth, bilateral|hypoactive bilateral labyrinthine dysfunction MONDO:0003560 obsolete adenosquamous pancreas carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003560 MONDO:0003561 malignant giant cell tumor of soft parts biolink:Disease mondo DOID:5638|ICDO:9251/3|UMLS:C0334554|NCIT:C8380 An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism. DOID:5638|NCIT:C8380|UMLS:C0334554 http://purl.obolibrary.org/obo/MONDO_0003561 malignant giant cell tumor of soft parts|malignant giant cell neoplasm of soft parts|giant cell malignant fibrous histiocytoma|undifferentiated pleomorphic sarcoma with osteoclast-like giant cells|malignant giant cell tumor of soft parts (morphologic abnormality)|giant cell fibrous histiocytoma|malignant Osteoclastoma MONDO:0003562 rete testis neoplasm biolink:Disease mondo UMLS:C1514912|DOID:5639|NCIT:C39955 A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma. DOID:5639|UMLS:C1514912|NCIT:C39955 http://purl.obolibrary.org/obo/MONDO_0003562 tumor of rete testis|neoplasm of rete testis|rete testis tumor|rete testis neoplasm (disease)|rete testis neoplasm MONDO:0003563 diffuse pulmonary fibrosis biolink:Disease mondo NCIT:C27216|UMLS:C0865849|DOID:5641 Diffuse replacement of the lung tissue by connective tissue. DOID:5641|NCIT:C27216|UMLS:C0865849 http://purl.obolibrary.org/obo/MONDO_0003563 MONDO:0015557 Smouldering systemic mastocytosis biolink:Disease mondo Orphanet:158775|ICD10:C96.2 Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions. ORPHA:158775 http://purl.obolibrary.org/obo/MONDO_0015557 ordo_clinical_subtype MONDO:0015556 nodular urticaria pigmentosa biolink:Disease mondo ICD10:Q82.2|Orphanet:158772 ORPHA:158772 http://purl.obolibrary.org/obo/MONDO_0015556 ordo_clinical_subtype MONDO:0015555 plaque-form urticaria pigmentosa biolink:Disease mondo Orphanet:158769|ICD10:Q82.2 ORPHA:158769 http://purl.obolibrary.org/obo/MONDO_0015555 ordo_clinical_subtype MONDO:0015554 typical urticaria pigmentosa biolink:Disease mondo ICD10:Q82.2|Orphanet:158766 ORPHA:158766 http://purl.obolibrary.org/obo/MONDO_0015554 ordo_clinical_subtype HGNC:12559 UMOD biolink:OntologyClass mondo http://identifiers.org/hgnc/12559 MONDO:0015559 lymphoadenopathic mastocytosis with eosinophilia biolink:Disease mondo ICD10:C96.2|Orphanet:158793 ORPHA:158793 http://purl.obolibrary.org/obo/MONDO_0015559 ordo_clinical_subtype MONDO:0015558 isolated bone marrow mastocytosis biolink:Disease mondo ICD10:C96.2|Orphanet:158778 ORPHA:158778 http://purl.obolibrary.org/obo/MONDO_0015558 ordo_clinical_subtype HGNC:24529 TMEM98 biolink:OntologyClass mondo http://identifiers.org/hgnc/24529 MONDO:0015553 dystrophic epidermolysis bullosa, nails only biolink:Disease mondo UMLS:CN199732|ICD10:Q81.2|SCTID:722436002|Orphanet:158676 Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails. SNOMEDCT:722436002|ORPHA:158676|UMLS:CN199732 http://purl.obolibrary.org/obo/MONDO_0015553 dominant dystrophic epidermolysis bullosa, nails only|nails-only DDEB|DEB-na|nails-only DEB ordo_disease MONDO:0015552 acral dystrophic epidermolysis bullosa biolink:Disease mondo ICD10:Q81.2|UMLS:CN199731|SCTID:733638006|Orphanet:158673|UMLS:C4518087 Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet. SNOMEDCT:733638006|ORPHA:158673|UMLS:CN199731|UMLS:C4518087 http://purl.obolibrary.org/obo/MONDO_0015552 DEB-ac|DEB, acral ordo_disease GO:0098900 regulation of action potential biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. http://purl.obolibrary.org/obo/GO_0098900 ENVO:00000248 glacial valley biolink:OntologyClass mondo A valley that contains, or contained, a glacier and was formed by glacial activity. Typically U-shaped in cross-section. http://purl.obolibrary.org/obo/ENVO_00000248 valley MONDO:0015551 basal epidermolysis bullosa simplex biolink:Disease mondo UMLS:C4302031|ICD10:Q81.0|Orphanet:158665|SCTID:723163000 A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes. UMLS:C4302031|ORPHA:158665|SNOMEDCT:723163000 http://purl.obolibrary.org/obo/MONDO_0015551 stratum basale of epidermis epidermolysis bullosa simplex|epidermolysis bullosa simplex of stratum basale of epidermis ordo_group_of_disorders MONDO:0015550 suprabasal epidermolysis bullosa simplex biolink:Disease mondo UMLS:C4511300|ICD10:Q81.0|Orphanet:158661|SCTID:724840004 A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes. SNOMEDCT:724840004|ORPHA:158661|UMLS:C4511300 http://purl.obolibrary.org/obo/MONDO_0015550 epidermolysis bullosa simplex of epidermis suprabasal layer|epidermis suprabasal layer epidermolysis bullosa simplex ordo_group_of_disorders MONDO:0003579 retinal nerve fibre layer disorder biolink:Disease mondo ICD9:362.85|SCTID:193428001|DOID:5678|UMLS:C3665426 A disease that involves the nerve fiber layer of retina. UMLS:C3665426|DOID:5678|SNOMEDCT:193428001 http://purl.obolibrary.org/obo/MONDO_0003579 nerve fiber layer of retina disease|nerve fiber layer of retina disease or disorder|retinal nerve fiber bundle defects|nerve fibre bundle defect|disease of nerve fiber layer of retina|disorder of nerve fiber layer of retina|disorder of nerve fiber layer of retina|retinal nerve fiber bundle deficiency|disease or disorder of nerve fiber layer of retina MONDO:0003575 comedocarcinoma biolink:Disease mondo ICDO:8501/3|NCIT:C4188|UMLS:C0334370|DOID:5670 A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. DOID:5670|NCIT:C4188|UMLS:C0334370 http://purl.obolibrary.org/obo/MONDO_0003575 Comedocarcinoma|comedo carcinoma MONDO:0003576 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003576 MONDO:0003577 obsolete cribriform carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003577 MONDO:0003578 extragonadal nonseminomatous germ cell tumor biolink:Disease mondo NCIT:C8885|UMLS:C1334582|DOID:5677 A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. UMLS:C1334582|DOID:5677|NCIT:C8885 http://purl.obolibrary.org/obo/MONDO_0003578 malignant tumor of the extragonadal non-seminomatous germ cell|malignant tumor of extragonadal non-seminomatous germ cell|cancer of the extragonadal non-seminomatous germ cell|cancer of extragonadal non-seminomatous germ cell|malignant extragonadal non-seminomatous germ cell neoplasm|extragonadal primary Nonseminoma|malignant extragonadal Nonseminoma|primary malignant extragonadal Nonseminoma|malignant neoplasm of the extragonadal non-seminomatous germ cell|malignant neoplasm of extragonadal non-seminomatous germ cell|extragonadal non-seminomatous germ cell cancer|malignant extragonadal non-seminomatous germ cell tumor UBERON:0036362 wall of anal canal biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036362 anal canal wall MONDO:0003571 obsolete labyrinthine dysfunction biolink:Disease mondo SCTID:5239005|ICD10:H83.2X|ICD10:H83.2|ICD9:386.5|DOID:566|UMLS:C0155514|COHD:78771|ICD10:H83.2X9|ICD9:386.50|ICD9:386.58 SNOMEDCT:5239005|DOID:566|UMLS:C0155514 http://purl.obolibrary.org/obo/MONDO_0003571 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma biolink:Disease mondo ICDO:8082/3|UMLS:C0334254|DOID:5660|NCIT:C4107 A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate. DOID:5660|NCIT:C4107|UMLS:C0334254 http://purl.obolibrary.org/obo/MONDO_0003572 nasopharyngeal type undifferentiated carcinoma|lymphoepithelioma|lymphoepithelial carcinoma|Schminke tumor|lymphoepithelioma-like carcinoma|Schmincke tumor MONDO:0003573 pleomorphic carcinoma biolink:Disease mondo ICDO:8022/3|NCIT:C4094|DOID:5662|UMLS:C0334233 A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism. DOID:5662|NCIT:C4094|UMLS:C0334233 http://purl.obolibrary.org/obo/MONDO_0003573 pleomorphic carcinoma (morphologic abnormality)|pleomorphic carcinoma MONDO:0003574 external ear cancer biolink:Disease mondo DOID:5665|SCTID:277156006|UMLS:C0349576|NCIT:C4653 A malignant neoplasm involving the external ear. DOID:5665|UMLS:C0349576|SNOMEDCT:277156006|NCIT:C4653 http://purl.obolibrary.org/obo/MONDO_0003574 external ear cancer|cancer of external ear|malignant tumor of external Ear|malignant tumor of the external Ear|malignant external ear neoplasm|malignant external Ear neoplasm|malignant neoplasm of external ear|malignant neoplasm of external Ear|malignant external Ear tumor|malignant neoplasm of the external Ear|malignant neoplasm of the external ear MONDO:0003570 lipid-rich carcinoma biolink:Disease mondo UMLS:C0334318|DOID:5658|NCIT:C4152|ICDO:8314/3 A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma. DOID:5658|NCIT:C4152|UMLS:C0334318 http://purl.obolibrary.org/obo/MONDO_0003570 lipid-rich carcinoma|lipid-rich carcinoma (morphologic abnormality) MONDO:0015546 non-distal monosomy 10q biolink:Disease mondo ICD10:Q93.5|Orphanet:1581 Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. ORPHA:1581 http://purl.obolibrary.org/obo/MONDO_0015546 non-distal deletion 10q|non-telomeric monosomy 10q|non-distal monosomy type 10q ordo_malformation_syndrome GO:2001141 regulation of RNA biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthesis|regulation of RNA anabolism|regulation of RNA synthesis|regulation of RNA formation MONDO:0015545 macrophage activation syndrome biolink:Disease mondo UMLS:C1096155|Orphanet:158061|MedDRA:10053867|SCTID:430478003|GARD:0012124|NCIT:C114471|EFO:1001806|MESH:D055501 A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms. SNOMEDCT:430478003|MEDDRA:10053867|MESH:D055501|UMLS:C1096155|ORPHA:158061|NCIT:C114471 http://purl.obolibrary.org/obo/MONDO_0015545 reactive hemophagocytic lymphohistiocytosis|MAS gard_rare|ordo_clinical_syndrome CL:0002454 Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell biolink:Cell mondo Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive. http://purl.obolibrary.org/obo/CL_0002454 DC.8-4-11b+|spleen double-negative dendritic cell MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease biolink:Disease mondo UMLS:CN199702|Orphanet:158057 ORPHA:158057|UMLS:CN199702 http://purl.obolibrary.org/obo/MONDO_0015544 ordo_clinical_situation GO:0060322 head development biolink:OntologyClass mondo The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body. http://purl.obolibrary.org/obo/GO_0060322 HGNC:12565 UNC119 biolink:OntologyClass mondo http://identifiers.org/hgnc/12565 CL:0002453 oligodendrocyte precursor cell biolink:Cell mondo The cell type from which oligodendrocytes develop. This cell originates from multiple structures within the developing brain including the medial ganglion eminence and the lateral ganglionic eminence. These cells migrate throughout the central nervous system and persist into adulthood where they play an important role in remyelination of injured neurons. http://purl.obolibrary.org/obo/CL_0002453 MONDO:0015543 hemophagocytic syndrome associated with an infection biolink:Disease mondo UMLS:CN199701|Orphanet:158048 ORPHA:158048|UMLS:CN199701 http://purl.obolibrary.org/obo/MONDO_0015543 VAHS|Virus-associated hemophagocytic syndrome|Virus-associated hemophagocytis syndrome|IAHS ordo_clinical_situation MONDO:0015549 obsolete rare genetic hematologic disease biolink:Disease mondo Orphanet:158300|UMLS:CN199710 UMLS:CN199710|ORPHA:158300 http://purl.obolibrary.org/obo/MONDO_0015549 obsoletion_candidate|ordo_group_of_disorders MONDO:0015548 Huntington disease-like syndrome biolink:Disease mondo SCTID:702376003|UMLS:C3711380|MESH:C580174|ICD9:333.99|Orphanet:158266 SNOMEDCT:702376003|UMLS:C3711380|ORPHA:158266|MESH:C580174 http://purl.obolibrary.org/obo/MONDO_0015548 Huntington disease phenocopy syndrome ordo_group_of_disorders GO:0098916 anterograde trans-synaptic signaling biolink:OntologyClass mondo Cell-cell signaling from pre to post-synapse, across the synaptic cleft. http://purl.obolibrary.org/obo/GO_0098916 GO:0060326 cell chemotaxis biolink:OntologyClass mondo The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/GO_0060326 CL:0002457 epidermal Langerhans cell biolink:Cell mondo A Langerhans cell that is in the epidermis and is CD45-positive, MHCII-positive, and CD11b-positive. http://purl.obolibrary.org/obo/CL_0002457 MONDO:0015547 genetic dementia biolink:Disease mondo Orphanet:158124 Genetic dementia. ORPHA:158124 http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia ordo_group_of_disorders MONDO:0015542 secondary hemophagocytic lymphohistiocytosis biolink:Disease mondo UMLS:CN199700|Orphanet:158041|UMLS:C4054044|NCIT:C121184|UMLS:C0019068 Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. NCIT:C121184|ORPHA:158041|UMLS:C0019068|UMLS:C4054044|UMLS:CN199700 http://purl.obolibrary.org/obo/MONDO_0015542 acquired hemophagocytic syndrome|acquired hemophagocytic lymphohistiocytosis|reactive hemophagocytic syndrome ordo_group_of_disorders HGNC:12563 UMPS biolink:OntologyClass mondo http://identifiers.org/hgnc/12563 MONDO:0015541 genetic hemophagocytic lymphohistiocytosis biolink:Disease mondo MedDRA:10070904|SCTID:398250003|OMIMPS:267700|ICD9:238.79|Orphanet:158038 Genetic hemophagocytic lymphohistiocytosis. SNOMEDCT:398250003|MEDDRA:10070904|ORPHA:158038 http://purl.obolibrary.org/obo/MONDO_0015541 genetic hemophagocytic syndrome|familial hemophagocytic lymphohistiocytosis|primary hemophagocytic lymphohistiocytosis|genetic hemophagocytic lymphohistiocytosis ordo_group_of_disorders MONDO:0015540 hemophagocytic syndrome biolink:Disease mondo ICD10:D76.1|MedDRA:10058125|NCIT:C34792|SCTID:234437005|UMLS:C3887558|GARD:0006589|UMLS:C0024291|ICD9:288.8|COHD:439789|DOID:0050120|NCIT:C35439|Orphanet:158032 Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). NCIT:C35439|DOID:0050120|UMLS:C3887558|NCIT:C34792|ORPHA:158032|MEDDRA:10058125|UMLS:C0024291|SNOMEDCT:234437005 http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic lymphohistiocytosis|hemophagocytic syndrome|hemophagocytic disorder|FHL|familial hemophagocytic lymphohistiocytosis|HPS|familial erythrophagocytic lymphohistiocytosis|familial histiocytic reticulosis|haemophagocytic syndrome|HLH gard_rare|ordo_group_of_disorders MONDO:0021251 endometrium neoplasm biolink:Disease mondo ICD9:239.5|MESH:D016889|NCIT:C3012|SCTID:123844007 A neoplasm (disease) that involves the endometrium. NCIT:C3012|MESH:D016889|SNOMEDCT:123844007 http://purl.obolibrary.org/obo/MONDO_0021251 tumor of the endometrium|neoplasm of endometrium|endometrium tumor|endometrium neoplasm (disease)|endometrial neoplasm|endometrial tumor|endometrial neoplasm|neoplasm of the endometrium|tumor of endometrium MONDO:0021250 tonsil neoplasm biolink:Disease mondo NCIT:C3417|SCTID:127227003 A neoplasm (disease) that involves the tonsil. NCIT:C3417|SNOMEDCT:127227003 http://purl.obolibrary.org/obo/MONDO_0021250 neoplasm of tonsil|tonsil neoplasm (disease)|tonsil tumor|tumor of the tonsil|tonsillar tumor|tonsillar neoplasms|tumor of tonsil|neoplasm of the tonsil|tonsillar neoplasm FOODON:00001907 gluten refined food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001907 MONDO:0021259 prostate neoplasm biolink:Disease mondo NCIT:C3343|ONCOTREE:PROSTATE|ICD9:600.1|DOID:13206|ICD10:N40 A neoplasm (disease) that involves the prostate gland. DOID:13206|NCIT:C3343 http://purl.obolibrary.org/obo/MONDO_0021259 prostate nodule|prostate gland neoplasm|tumor of prostate gland|neoplasm of prostate|prostate tumor|neoplasm of the prostate|prostate gland neoplasm (disease)|neoplasm of prostate gland|prostate gland tumor|tumor of prostate|nodular prostate|tumor of the prostate HP:0002814 Abnormality of the lower limb biolink:PhenotypicFeature mondo UMLS:C1096086|SNOMEDCT_US:449715001 An abnormality of the leg. http://purl.obolibrary.org/obo/HP_0002814 Abnormality of the lower limb|Abnormality of the leg|Lower limb deformities hposlim_core MONDO:0021258 choroid neoplasm biolink:Disease mondo NCIT:C2949 A neoplasm (disease) that involves the optic choroid. NCIT:C2949 http://purl.obolibrary.org/obo/MONDO_0021258 optic choroid neoplasm (disease)|neoplasm of optic choroid|neoplasm of the choroid|optic choroid tumor|neoplasm of choroid|choroid tumor|tumor of optic choroid|choroidal tumor|tumor of the choroid|optic choroid neoplasm|tumor of choroid|choroidal neoplasm HP:0002815 Abnormality of the knee biolink:PhenotypicFeature mondo UMLS:C4025676 An abnormality of the knee joint or surrounding structures. http://purl.obolibrary.org/obo/HP_0002815 Abnormality of the knee hposlim_core MONDO:0021257 glomus jugulare neoplasm biolink:Disease mondo A neoplasm (disease) that involves the jugular body. http://purl.obolibrary.org/obo/MONDO_0021257 jugular body neoplasm (disease)|neoplasm of jugular body|jugular body tumor|jugular body neoplasm|tumor of jugular body MONDO:0008279 obsolete familial adenomatous polyposis type 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008279 HP:0002812 Coxa vara biolink:PhenotypicFeature mondo UMLS:C0239138|MSH:D060905|SNOMEDCT_US:74820003 Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. http://purl.obolibrary.org/obo/HP_0002812 HGNC:12649 VAPB biolink:OntologyClass mondo http://identifiers.org/hgnc/12649 MONDO:0021256 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021256 HP:0002813 Abnormality of limb bone morphology biolink:PhenotypicFeature mondo UMLS:C4082761 Any abnormality of bones of the arms or legs. http://purl.obolibrary.org/obo/HP_0002813 Abnormal shape of limb bone|Arm and/or leg bone differences|Limb abnormality MONDO:0021255 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021255 MONDO:0008277 stomach polyp biolink:Disease mondo MESH:C562464|SCTID:87252009|NCIT:C3954|COHD:4303233 A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps). SNOMEDCT:87252009|NCIT:C3954|MESH:C562464 http://purl.obolibrary.org/obo/MONDO_0008277 polyps of the stomach|polyps of stomach|gastric polyposis|gastric Polyposa|gastric polyp MONDO:0021254 corpus uteri neoplasm biolink:Disease mondo NCIT:C6300|SCTID:126909004|UMLS:C1263777 A neoplasm (disease) that involves the body of uterus. NCIT:C6300|UMLS:C1263777|SNOMEDCT:126909004 http://purl.obolibrary.org/obo/MONDO_0021254 neoplasm of uterine corpus|neoplasm of the corpus uteri|corpus uteri tumor|neoplasm of the body of uterus|uterine corpus neoplasm|uterine corpus tumor|tumor of body of uterus|neoplasm of the uterine corpus|body of uterus neoplasm (disease)|neoplasm of body of uterus|neoplasm of uterine body|tumor of corpus uteri|uterine body tumor|neoplasm of the uterine body|tumor of the corpus uteri|tumor of uterine corpus|tumor of the uterine corpus|body of uterus tumor|uterine body neoplasm|tumor of uterine body|body of uterus neoplasm|neoplasm of corpus uteri|tumor of the uterine body MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome biolink:Disease mondo MESH:C563412|OMIM:175050|UMLS:C1832942 UMLS:C1832942|http://identifiers.org/omim/175050|MESH:C563412 http://purl.obolibrary.org/obo/MONDO_0008278 JPHT|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|juvenile polyposis with hereditary hemorrhagic telangiectasia|JP/Hht syndrome|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; JPHT|jPS/Hht|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli MONDO:0008275 familial expansile osteolysis biolink:Disease mondo Orphanet:85195|ICD9:756.9|GARD:0009168|MESH:C536335|ICD10:M89.5|OMIM:174810|SCTID:254153009 http://identifiers.org/omim/174810|ORPHA:85195|SNOMEDCT:254153009|MESH:C536335|UMLS:C0432292 http://purl.obolibrary.org/obo/MONDO_0008275 osteolysis, familial expansile|FEO|Mccabe disease|EOF|expansile osteolysis, familial|hereditary expansile polyostotic osteolytic dysplasia|polyostotic osteolytic dysplasia, hereditary expansile|familial expansile osteolysis; FEO|familial expansile osteolysis|HEPOD|McCabe disease ordo_disease MONDO:0021253 gallbladder neoplasm biolink:Disease mondo UMLS:C0016978|NCIT:C3048 A neoplasm (disease) that involves the gall bladder. NCIT:C3048|UMLS:C0016978 http://purl.obolibrary.org/obo/MONDO_0021253 neoplasm of gall bladder|gall bladder tumor|tumor of the gallbladder|tumor of gallbladder|gall bladder neoplasm|tumor of gall bladder|neoplasm of the gallbladder|gall bladder neoplasm (disease)|neoplasm of gallbladder|gallbladder tumor MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli biolink:Disease mondo OMIM:174900|Orphanet:329971|DOID:0050787|ICD10:D12.6|UMLS:CN204230 http://identifiers.org/omim/174900|ORPHA:329971|DOID:0050787|UMLS:CN204230 http://purl.obolibrary.org/obo/MONDO_0008276 juvenile polyposis syndrome|juvenile intestinal polyposis|juvenile polyposis coli|jPS|juvenile polyposis syndrome; jPS|polyposis, juvenile intestinal|polyposis, familial, of Entire gastrointestinal tract|juvenile polyposis of stomach clingen|ordo_clinical_subtype HP:0002817 Abnormality of the upper limb biolink:PhenotypicFeature mondo UMLS:C4020900 An abnormality of the arm. http://purl.obolibrary.org/obo/HP_0002817 Abnormality of the arm|Abnormality of the upper limb MONDO:0021252 obsolete lung hilum neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021252 MONDO:0008273 actinic prurigo biolink:Disease mondo SCTID:201015007|ICD10:L56.4|COHD:141374|UMLS:C0406217|OMIM:174770|Orphanet:330061 UMLS:C0406217|ORPHA:330061|SNOMEDCT:201015007|http://identifiers.org/omim/174770 http://purl.obolibrary.org/obo/MONDO_0008273 Hutchinson summer prurigo|polymorphic Light eruption, hereditary|hydroa aestivale|familial polymorphous light eruption of American Indians|actinic prurigo|hereditary polymorphous light eruption of American Indians|juvenile Spring eruption of ears ordo_disease MONDO:0008274 polyostotic fibrous dysplasia biolink:Disease mondo SCTID:36517007|ICD9:756.54|Orphanet:93276|ICD10:Q78.1|MedDRA:10036120|NCIT:C34610|MESH:D005359 Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome. SNOMEDCT:36517007|MEDDRA:10036120|NCIT:C34610|MESH:D005359|ORPHA:93276 http://purl.obolibrary.org/obo/MONDO_0008274 polyostotic fibrous dysplasia of bone|fibrous dysplasia of bone ordo_clinical_subtype MONDO:0008271 polydactyly of an index finger biolink:Disease mondo Orphanet:93337|ICD10:Q69.0|UMLS:C1868113|MESH:C566784|OMIM:174600|GARD:0002256|SCTID:723446006 Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962. UMLS:C1868113|MESH:C566784|SNOMEDCT:723446006|ORPHA:93337|http://identifiers.org/omim/174600 http://purl.obolibrary.org/obo/MONDO_0008271 PPD3|polydactyly, preaxial III|index finger polydactyly|preaxial polydactyly type 3|polydactyly, preaxial 3|polydactyly, preaxial type 3 ordo_morphological_anomaly MONDO:0008272 polysyndactyly 4 biolink:Disease mondo ICD10:Q70.4|Orphanet:93338|MedDRA:10063143|NCIT:C125597|OMIM:174700|UMLS:C1868111|UMLS:C0265553|SCTID:84598000|ICD9:755.10|GARD:0009903|COHD:79126|GARD:0001616 Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. UMLS:C1868111|MEDDRA:10063143|UMLS:C0265553|SNOMEDCT:84598000|NCIT:C125597|ORPHA:93338|http://identifiers.org/omim/174700 http://purl.obolibrary.org/obo/MONDO_0008272 PPD4|polysyndactyly uncomplicated|preaxial polydactyly 4|crossed polydactyly type 1|preaxial polydactyly type 4|polydactyly, preaxial IV|polysyndactyly, uncomplicated|polydactyly preaxial 4|polydactyly, preaxial 4|polydactyly, preaxial type 4|crossed polydactyly, type 1 gard_rare|ordo_morphological_anomaly MONDO:0008270 polydactyly of a triphalangeal thumb biolink:Disease mondo Orphanet:93336|UMLS:C1868114|GARD:0005289|OMIM:174500|SCTID:715710001|ICD10:Q69.1 Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. UMLS:C1868114|SNOMEDCT:715710001|ORPHA:93336|http://identifiers.org/omim/174500 http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of triphalangeal thumb|triphalangeal thumb-polysyndactyly syndrome|preaxial polydactyly type 2|triphalangeal thumb with polysyndactyly|polydactyly, preaxial II|polydactyly, preaxial 2|polydactyly, preaxial type 2|triphalangeal thumb|polydactyly, preaxial II; PPD2|PPD2|TPT-PS syndrome|triphalangeal thumb-polydactyly syndrome ordo_morphological_anomaly MONDO:0021249 lip neoplasm biolink:Disease mondo SCTID:126770008|NCIT:C3191 A neoplasm (disease) that involves the lip. SNOMEDCT:126770008|NCIT:C3191 http://purl.obolibrary.org/obo/MONDO_0021249 lip neoplasms|tumor of the Lip|lip tumor|tumor of Lip|tumor of lip|lip neoplasm (disease)|neoplasm of the Lip|neoplasm of Lip|neoplasm of lip FOODON:00001911 goat dairy food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001911 MONDO:0021240 tongue neoplasm biolink:Disease mondo SCTID:126778001|EFO:0003871|NCIT:C3416 A neoplasm (disease) that involves the tongue. SNOMEDCT:126778001|NCIT:C3416 http://purl.obolibrary.org/obo/MONDO_0021240 neoplasm of tongue|tongue tumor|tumor of the tongue|tongue neoplasm (disease)|tumor of tongue|neoplasm of the tongue MONDO:0021248 nervous system neoplasm biolink:Disease mondo NCIT:C3268|COHD:444200 A neoplasm (disease) that involves the nervous system. NCIT:C3268 http://purl.obolibrary.org/obo/MONDO_0021248 neoplasm of the nervous system|nervous system neoplasm (disease)|nervous system neoplasms|neoplasm of nervous system|nervous system tumor|tumor of the nervous system|nervous system tumour|tumor of nervous system MONDO:0021247 obsolete renal pelvis neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021247 MONDO:0021246 pharynx neoplasm biolink:Disease mondo NCIT:C3325 A neoplasm (disease) that involves the pharynx. NCIT:C3325 http://purl.obolibrary.org/obo/MONDO_0021246 tumor of pharynx|neoplasm of the pharynx|pharyngeal tumor|neoplasm of pharynx|pharyngeal neoplasms|tumor of the pharynx|pharynx tumor|pharynx neoplasm (disease) HP:0002823 Abnormality of femur morphology biolink:PhenotypicFeature mondo UMLS:C4021750 Any anomaly of the structure of the femur. http://purl.obolibrary.org/obo/HP_0002823 Abnormality of the thighbone|Abnormality of the femora MONDO:0021245 oral cavity neoplasm biolink:Disease mondo UMLS:C0026640|SCTID:235075007|NCIT:C7606|EFO:0003868 A neoplasm (disease) that involves the oral cavity. UMLS:C0026640|NCIT:C7606|SNOMEDCT:235075007 http://purl.obolibrary.org/obo/MONDO_0021245 tumor of oral cavity|tumor of mouth|mouth tumor|neoplasm of oral cavity|oral cavity neoplasm (disease)|oral cavity tumor|mouth neoplasm MONDO:0021244 submandibular gland neoplasm biolink:Disease mondo UMLS:C0038558|MESH:D013365|SCTID:254464000|NCIT:C3393|EFO:1001853 A neoplasm (disease) that involves the submandibular gland. MESH:D013365|UMLS:C0038558|SNOMEDCT:254464000|NCIT:C3393 http://purl.obolibrary.org/obo/MONDO_0021244 neoplasm of the submandibular gland|tumor of submandibular gland|tumor of the submandibular gland|neoplasm of submandibular gland|submandibular gland tumor|submandibular gland neoplasm (disease) MONDO:0008288 popliteal cyst biolink:Disease mondo OMIM:175750|SCTID:82675004|MESH:D011151|ICD9:727.51 A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint. MESH:D011151|SNOMEDCT:82675004|http://identifiers.org/omim/175750 http://purl.obolibrary.org/obo/MONDO_0008288 popliteal cyst|baker cyst HP:0002829 Arthralgia biolink:PhenotypicFeature mondo UMLS:C0003862|MSH:D018771|SNOMEDCT_US:57676002 Joint pain. http://purl.obolibrary.org/obo/HP_0002829 Arthralgias|Joint pain|Joint pains|Arthritic pain MONDO:0021243 parotid gland neoplasm biolink:Disease mondo EFO:0003873|SCTID:126788000|NCIT:C3314 A neoplasm (disease) that involves the parotid gland. SNOMEDCT:126788000|NCIT:C3314 http://purl.obolibrary.org/obo/MONDO_0021243 tumor of the parotid gland|neoplasm of parotid gland|parotid gland tumor|tumor of the parotid|tumor of parotid|parotid gland neoplasm (disease)|parotid neoplasm|neoplasm of the parotid gland|tumor of parotid gland|neoplasm of the parotid|neoplasm of parotid|parotid tumor MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies biolink:Disease mondo DOID:0090125|Orphanet:36383|OMIM:175780|MESH:C564372|OMIM:607595|ICD10:I67.3|MESH:C531642|UMLS:CN032791 Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene. MESH:C531642|UMLS:C2930808|UMLS:CN032791|http://identifiers.org/omim/607595|DOID:0090125|MESH:C564372|ORPHA:36383|http://identifiers.org/omim/175780 http://purl.obolibrary.org/obo/MONDO_0008289 T1P|BSVD1|porencephaly caused by mutation in COL4A1|infantile hemiparesis|autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy|porencephaly, type 1, autosomal dominant|ADT1P|brain small vessel disease with hemorrhage|COL4A1 porencephaly|porencephaly type 1|BSVD|COL4A1-related familial vascular leukoencephalopathy|COL4A1-related brain small vessel disease with hemorrhage|hemiplegia, infantile, with porencephaly|leukoencephalopathy with axenfeld-rieger anomaly|POREN1|brain small vessel disease with Axenfeld-Riegar anomaly|brain small vessel disease with or without ocular anomalies; BSVD|porencephaly 1|porencephaly 1; POREN1|brain small vessel disease with or without ocular anomalies|retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant|COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome|brain small vessel disease with axenfeld-rieger anomaly|hemiplegia, infantile, with porencephaly porencephaly, type 1 ordo_disease MONDO:0008286 crossed polysyndactyly biolink:Disease mondo Orphanet:2935|MESH:C566773|UMLS:C1867999|ICD10:Q70.4|GARD:0001617|OMIM:175690 Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994. ORPHA:2935|MESH:C566773|UMLS:C1867999|http://identifiers.org/omim/175690 http://purl.obolibrary.org/obo/MONDO_0008286 crossed polydactyly|polysyndactyly, crossed ordo_malformation_syndrome|gard_rare MONDO:0021242 sublingual gland neoplasm biolink:Disease mondo EFO:1001430|UMLS:C0038554|MESH:D013362|NCIT:C3392|SCTID:126790004 A neoplasm (disease) that involves the sublingual gland. UMLS:C0038554|SNOMEDCT:126790004|NCIT:C3392|MESH:D013362 http://purl.obolibrary.org/obo/MONDO_0021242 tumor of sublingual gland|neoplasm of the sublingual gland|neoplasm of sublingual gland|sublingual gland neoplasm (disease)|sublingual gland tumor|tumor of the sublingual gland CL:0000936 early lymphoid progenitor biolink:Cell mondo A lymphoid progenitor cell that is found in bone marrow, gives rise to B cells, T cells, natural killer cells and dendritic cells, and has the phenotype Lin-negative, Kit-positive, Sca-1-positive, FLT3-positive, CD34-positive, CD150 negative, and GlyA-negative. http://purl.obolibrary.org/obo/CL_0000936 ELP|GMLP|lymphoid-primed multipotent progenitor|LMPP MONDO:0008287 Greig cephalopolysyndactyly syndrome biolink:Disease mondo OMIM:175700|MESH:C537300|DOID:14761|Orphanet:380|UMLS:C0265306|ICD10:Q87.0|MedDRA:10053878|NCIT:C35255|SCTID:32985001|GARD:0006550 Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. NCIT:C35255|MESH:C537300|MEDDRA:10053878|UMLS:C0265306|ORPHA:380|DOID:14761|SNOMEDCT:32985001|http://identifiers.org/omim/175700 http://purl.obolibrary.org/obo/MONDO_0008287 GCPS|Greig cephalopolysyndactyly syndrome; GCPS|Greig cephalopolysyndactyly syndrome|polysyndactyly with peculiars skull shape|Greig cephalosyndactyly syndrome|Greig syndrome|Greig's syndrome|polysyndactyly with peculiar skull Shape gard_rare|ordo_malformation_syndrome MONDO:0021241 buccal mucosa neoplasm biolink:Disease mondo SCTID:126802007|NCIT:C4405|UMLS:C0345563 A neoplasm (disease) that involves the buccal mucosa. SNOMEDCT:126802007|NCIT:C4405|UMLS:C0345563 http://purl.obolibrary.org/obo/MONDO_0021241 neoplasm of buccal mucosa|tumor of the buccal mucosa|buccal mucosa tumor|buccal mucosa neoplasm (disease)|neoplasm of the buccal mucosa|tumor of buccal mucosa CL:0000937 pre-natural killer cell biolink:Cell mondo Cell committed to natural killer cell lineage that has the phenotype CD122-positive, CD34-positive, and CD117-positive. This cell type lacks expression of natural killer receptor proteins. http://purl.obolibrary.org/obo/CL_0000937 pre-NK cell MONDO:0008284 polyposis of gastric fundus without polyposis coli biolink:Disease mondo UMLS:C1868001|MESH:C566775|OMIM:175505 UMLS:C1868001|MESH:C566775|http://identifiers.org/omim/175505 http://purl.obolibrary.org/obo/MONDO_0008284 polyposis of gastric fundus without polyposis coli|fundic gland polyposis HGNC:12666 VCP biolink:OntologyClass mondo http://identifiers.org/hgnc/12666 HGNC:10004 RGS9 biolink:OntologyClass mondo http://identifiers.org/hgnc/10004 MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal biolink:Disease mondo MESH:C566774|UMLS:C1868000|OMIM:175510 UMLS:C1868000|MESH:C566774|http://identifiers.org/omim/175510 http://purl.obolibrary.org/obo/MONDO_0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal HGNC:12665 VCL biolink:OntologyClass mondo http://identifiers.org/hgnc/12665 MONDO:0008282 polyposis, intestinal, with multiple exostoses biolink:Disease mondo OMIM:175450|UMLS:C1868005|MESH:C566776 UMLS:C1868005|MESH:C566776|http://identifiers.org/omim/175450 http://purl.obolibrary.org/obo/MONDO_0008282 polyposis, intestinal, with multiple exostoses HGNC:10001 RGS5 biolink:OntologyClass mondo http://identifiers.org/hgnc/10001 MONDO:0008283 Cronkhite-Canada syndrome biolink:Disease mondo Orphanet:2930|GARD:0004427|OMIM:175500|MESH:D044483|NCIT:C7035|SCTID:76304001|ICD10:D12.6|DOID:6225|UMLS:C0282207|MedDRA:10062907 Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation. UMLS:C0282207|ORPHA:2930|SNOMEDCT:76304001|NCIT:C7035|MEDDRA:10062907|http://identifiers.org/omim/175500|MESH:D044483|DOID:6225 http://purl.obolibrary.org/obo/MONDO_0008283 gastric Cronkhite Canada polyposis|Cronkhite-Canada disease|gastrointestinal polyposis-ectodermal changes syndrome|gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|polyposis, skin pigmentation, alopecia, and fingernail changes|Cronkhite-Canada syndrome|polyposis skin pigmentation alopecia fingernail changes ordo_disease|gard_rare MONDO:0008280 Peutz-Jeghers syndrome biolink:Disease mondo UMLS:C0031269|DOID:3852|OMIM:175200|NCIT:C3324|Orphanet:2869|GARD:0007378|MESH:D010580|MedDRA:10034764|SCTID:54411001|UMLS:C1333088|ICD10:Q85.8|ICD9:759.6 Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. ORPHA:2869|MEDDRA:10034764|DOID:3852|MESH:D010580|http://identifiers.org/omim/175200|SNOMEDCT:54411001|NCIT:C3324|UMLS:C1333088|UMLS:C0031269 http://purl.obolibrary.org/obo/MONDO_0008280 hamartomatous intestinal polyposis|polyposis, hamartomatous intestinal|polyps and spots syndrome|Peutz Jeghers polyposis|PJS|Peutz Jeghers colon polyp|periorificial lentiginosis syndrome|lentiginosis, perioral|Peutz-Jeghers small bowel hamartoma|colonic hamartomatous polyp|Peutz Jeghers polyp|Peutz-Jeghers syndrome; PJS|Peutz-Jeghers polyp of small intestine|Peutz-Jeghers syndrome|Peutz's syndrome|polyps-and-Spots syndrome|Jeghers-Peutz syndrome|gastric Peutz-Jeghers polyp ordo_disease|gard_rare|clingen MONDO:0008281 polyposis, intestinal, scattered and discrete biolink:Disease mondo UMLS:C1868006|OMIM:175400 UMLS:C1868006|http://identifiers.org/omim/175400 http://purl.obolibrary.org/obo/MONDO_0008281 polyps, scattered, discrete intestinal|polyposis, intestinal, scattered and discrete MONDO:0021239 urethra neoplasm biolink:Disease mondo EFO:0003846|NCIT:C3428 A neoplasm (disease) that involves the urethra. NCIT:C3428 http://purl.obolibrary.org/obo/MONDO_0021239 tumor of the urethra|neoplasm of urethra|urethra neoplasm (disease)|urethra tumor|urethral tumors|urethral tumor|urethral neoplasms|neoplasms. urethra|tumor of urethra|neoplasm of the urethra|urethra tumors|urethra neoplasms|urethral neoplasm|tumors. urethra HGNC:12668 VCY biolink:OntologyClass mondo http://identifiers.org/hgnc/12668 HGNC:10006 RHAG biolink:OntologyClass mondo http://identifiers.org/hgnc/10006 MONDO:0021238 cornea neoplasm biolink:Disease mondo UMLS:C0339304|NCIT:C4361 A neoplasm (disease) that involves the cornea. UMLS:C0339304|NCIT:C4361 http://purl.obolibrary.org/obo/MONDO_0021238 corneal tumor|tumor of cornea|neoplasm of the cornea|corneal neoplasm|cornea neoplasm (disease)|neoplasm of cornea|cornea tumor|tumor of the cornea MONDO:0033259 deafness, autosomal dominant 72 biolink:Disease mondo OMIM:617606|DOID:0080268 http://identifiers.org/omim/617606|DOID:0080268 http://purl.obolibrary.org/obo/MONDO_0033259 DFNA72|autosomal dominant nonsyndromic deafness 72|deafness, autosomal dominant 72; DFNA72 MONDO:0033258 deafness, autosomal dominant 71 biolink:Disease mondo OMIM:617605|DOID:0080267 http://identifiers.org/omim/617605|DOID:0080267 http://purl.obolibrary.org/obo/MONDO_0033258 deafness, autosomal dominant 71; DFNA71|DFNA71|autosomal dominant nonsyndromic deafness 71 HGNC:12660 VAX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12660 CL:0000906 activated CD8-positive, alpha-beta T cell biolink:Cell mondo A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, CD25-positive, and CCR7-negative. http://purl.obolibrary.org/obo/CL_0000906 activated CD8-positive, alpha-beta T-cell|activated CD8-positive, alpha-beta T lymphocyte|activated CD8-positive, alpha-beta T-lymphocyte CL:0000908 CD8-positive, alpha-beta cytokine secreting effector T cell biolink:Cell mondo A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive, that secretes cytokines. http://purl.obolibrary.org/obo/CL_0000908 CD8-positive, alpha-beta cytokine secreting effector T-cell|CD8-positive, alpha-beta cytokine secreting effector T lymphocyte|CD8-positive, alpha-beta cytokine secreting effector T-lymphocyte MONDO:0008259 familial spontaneous pneumothorax biolink:Disease mondo OMIM:173600|DOID:0080218|Orphanet:2903|UMLS:C4275252|ICD10:J93.1|SCTID:715219001|UMLS:C1868193|GARD:0004997|MESH:C566795 Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated. SNOMEDCT:715219001|UMLS:C4275252|http://identifiers.org/omim/173600|DOID:0080218|ORPHA:2903|UMLS:C1868193|MESH:C566795 http://purl.obolibrary.org/obo/MONDO_0008259 spontaneous pneumothorax|Psp|pneumothorax, primary spontaneous|primary spontaneous pneumothorax ordo_disease MONDO:0021237 adrenal medulla neoplasm biolink:Disease mondo UMLS:C0596046|NCIT:C4856 A neoplasm (disease) that involves the adrenal medulla. NCIT:C4856|UMLS:C0596046 http://purl.obolibrary.org/obo/MONDO_0021237 adrenal medulla neoplasm (disease)|tumor of adrenal medulla|neoplasm of adrenal medulla|adrenal medulla tumor MONDO:0021236 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021236 MONDO:0021235 external ear neoplasm biolink:Disease mondo UMLS:C0349575|NCIT:C4652|SCTID:277155005 A neoplasm (disease) that involves the external ear. UMLS:C0349575|SNOMEDCT:277155005|NCIT:C4652 http://purl.obolibrary.org/obo/MONDO_0021235 neoplasm of external ear|tumor of external Ear|tumor of the external Ear|external ear tumor|external ear neoplasm (disease)|tumor of external ear|neoplasm of external Ear|external Ear tumor|neoplasm of the external Ear MONDO:0008257 platelet responsiveness to adrenaline, depressed biolink:Disease mondo OMIM:173580 http://identifiers.org/omim/173580 http://purl.obolibrary.org/obo/MONDO_0008257 platelet responsiveness to adrenaline, depressed CL:0000900 naive thymus-derived CD8-positive, alpha-beta T cell biolink:Cell mondo A CD8-positive, alpha-beta T cell that has not experienced activation via antigen contact and has the phenotype CD45RA-positive, CCR7-positive and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. http://purl.obolibrary.org/obo/CL_0000900 naive thymus-dervied CD8-positive, alpha-beta T-cell|naive thymus-dervied CD8-positive, alpha-beta T lymphocyte|naive CD8+ T cell|naive thymus-dervied CD8-positive, alpha-beta T-lymphocyte|T.8Nve.Sp MONDO:0021234 spinal cord neoplasm biolink:Disease mondo UMLS:C0037930|NCIT:C3381 A neoplasm (disease) that involves the spinal cord. UMLS:C0037930|NCIT:C3381 http://purl.obolibrary.org/obo/MONDO_0021234 neoplasm of the spinal cord|tumor of spinal cord|spinal cord neoplasm (disease)|neoplasm of spinal cord|tumor of the spinal cord|spinal cord tumor MONDO:0008258 platelet signal processing defect biolink:Disease mondo OMIM:173590|MESH:C566796|UMLS:C1868199 http://identifiers.org/omim/173590|UMLS:C1868199|MESH:C566796 http://purl.obolibrary.org/obo/MONDO_0008258 platelet signal processing defect MONDO:0021233 ear neoplasm biolink:Disease mondo NCIT:C3000 A neoplasm (disease) that involves the ear. NCIT:C3000 http://purl.obolibrary.org/obo/MONDO_0021233 neoplasm of the Ear|neoplasm of Ear|Ear tumor|tumor of ear|Ear neoplasms|tumor of the Ear|tumor of Ear|ear neoplasm (disease)|neoplasm of ear|ear tumor MONDO:0008255 platelet factor 3 deficiency biolink:Disease mondo OMIM:173450|MESH:C566798|UMLS:C1868256 http://identifiers.org/omim/173450|UMLS:C1868256|MESH:C566798 http://purl.obolibrary.org/obo/MONDO_0008255 platelet factor 3 deficiency MONDO:0021232 pineal body neoplasm biolink:Disease mondo ONCOTREE:PINT|NCIT:C3328 A neoplasm (disease) that involves the pineal body. NCIT:C3328 http://purl.obolibrary.org/obo/MONDO_0021232 pineal body tumor|tumor of pineal body|pineal region neoplasm|pineal neoplasm|tumor of the pineal area|tumor of pineal area|neoplasm of the pineal region|pineal tumor|neoplasm of pineal region|pineal region tumor|pinealoma|pineal body neoplasm (disease)|neoplasm of pineal body|pineal area neoplasm|neoplasm of the pineal area|tumor of the pineal region|neoplasm of pineal area|pineal area tumor|tumor of pineal region MONDO:0008256 platelet membrane fluidity biolink:Disease mondo OMIM:173560 http://identifiers.org/omim/173560 http://purl.obolibrary.org/obo/MONDO_0008256 platelet membrane fluidity|PMF|platelet membrane fluidity; PMF MONDO:0008253 platelet aggregation, spontaneous biolink:Disease mondo OMIM:173400|UMLS:C1868263|MESH:C566800 http://identifiers.org/omim/173400|UMLS:C1868263|MESH:C566800 http://purl.obolibrary.org/obo/MONDO_0008253 platelet aggregation, spontaneous MONDO:0021231 retina neoplasm biolink:Disease mondo EFO:1000509|NCIT:C4800 A neoplasm (disease) that involves the retina. NCIT:C4800 http://purl.obolibrary.org/obo/MONDO_0021231 tumor of retina|neoplasm of the retina|neoplasm of retina|retinal neoplasm|retina tumor|tumor of the retina|retina neoplasm (disease)|retinal tumor MONDO:0021230 uterine cervix neoplasm biolink:Disease mondo ONCOTREE:CERVIX|NCIT:C2940 A neoplasm (disease) that involves the uterine cervix. NCIT:C2940 http://purl.obolibrary.org/obo/MONDO_0021230 Cervical neoplasm|tumor of the cervix|neoplasm of uterine cervix|cervical tumor|tumor of cervix uteri|uterine cervix tumor|uterine cervix neoplasm (disease)|tumor of the cervix uteri|tumor of the uterine cervix|Cervical neoplasm|cervix|cervix uteri neoplasm|neoplasm of cervix|cervix tumor|neoplasm of the cervix|tumor of uterine cervix|neoplasm of cervix uteri|cervix neoplasm|cervix uteri tumor|neoplasm of the cervix uteri|neoplasm of the uterine cervix|tumor of cervix MONDO:0008254 platelet disorder, undefined biolink:Disease mondo OMIM:173420|MESH:C566799|UMLS:C1868258 http://identifiers.org/omim/173420|UMLS:C1868258|MESH:C566799 http://purl.obolibrary.org/obo/MONDO_0008254 platelet disorder, undefined MONDO:0008251 pityriasis rubra pilaris biolink:Disease mondo DOID:9212|MedDRA:10035116|UMLS:C0032027|OMIM:173200|ICD9:696.4|NCIT:C85014|ICD10:L44.0|Orphanet:2897|MESH:D010916|COHD:136774|GARD:0007401|SCTID:3755001 Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists. UMLS:C0032027|http://identifiers.org/omim/173200|MEDDRA:10035116|SNOMEDCT:3755001|ORPHA:2897|NCIT:C85014|DOID:9212|MESH:D010916 http://purl.obolibrary.org/obo/MONDO_0008251 PrP|Devergie's disease|PITYRIASIS rubra pilaris; PrP|pityriasis rubra pilaris gard_rare|ordo_disease MONDO:0033262 nephrotic syndrome 15 biolink:Disease mondo DOID:0080271|OMIM:617609|UMLS:CN388854 http://identifiers.org/omim/617609|DOID:0080271|UMLS:CN388854 http://purl.obolibrary.org/obo/MONDO_0033262 nephrotic syndrome, type 15|NPHS15|nephrotic syndrome 15; NPHS15 HGNC:12633 USP9Y biolink:OntologyClass mondo http://identifiers.org/hgnc/12633 MONDO:0008252 platelet adenylate cyclase activity biolink:Disease mondo OMIM:173395 http://identifiers.org/omim/173395 http://purl.obolibrary.org/obo/MONDO_0008252 platelet adenylate cyclase activity HGNC:12632 USP9X biolink:OntologyClass mondo http://identifiers.org/hgnc/12632 MONDO:0033260 deafness, autosomal dominant 73 biolink:Disease mondo DOID:0080269|OMIM:617663|UMLS:CN461628 UMLS:CN461628|DOID:0080269|http://identifiers.org/omim/617663 http://purl.obolibrary.org/obo/MONDO_0033260 DFNA73|autosomal dominant nonsyndromic deafness 73|deafness, autosomal dominant 73; DFNA73 HGNC:12631 USP8 biolink:OntologyClass mondo http://identifiers.org/hgnc/12631 MONDO:0008250 isolated growth hormone deficiency type II biolink:Disease mondo ICD10:E23.0|SCTID:237687003|DOID:0060872|OMIM:173100|GARD:0001696|UMLS:C0271567|Orphanet:231679|MESH:C562704 MESH:C562704|http://identifiers.org/omim/173100|UMLS:C0271567|ORPHA:231679|SNOMEDCT:237687003|DOID:0060872 http://purl.obolibrary.org/obo/MONDO_0008250 isolated Growth hormone deficiency, type 2|autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency|congenital isolated GH deficiency type II|isolated growth hormone deficiency, type II|pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant|IGHD2|Growth hormone deficiency, isolated, autosomal dominant|IGHD II|Growth hormone deficiency, isolated autosomal dominant|autosomal dominant isolated growth hormone deficiency|congenital IGHD type II|pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant|isolated growth hormone deficiency type 2|congenital isolated growth hormone deficiency type II|IGHD 2|isolated growth hormone deficiency, type II; IGHD2 gard_rare|ordo_clinical_subtype MONDO:0033261 deafness, autosomal dominant 34, with or without inflammation biolink:Disease mondo UMLS:CN653906|DOID:0080270|OMIM:617772 http://identifiers.org/omim/617772|UMLS:CN653906|DOID:0080270 http://purl.obolibrary.org/obo/MONDO_0033261 DFNA34|deafness, autosomal dominant 34, with or without inflammation; DFNA34|autosomal dominant nonsyndromic deafness 34 CHEBI:17602 4-aminophenol biolink:ChemicalSubstance mondo An amino phenol (one of the three possible isomers) which has the single amino substituent located para to the phenolic -OH group. http://purl.obolibrary.org/obo/CHEBI_17602 4-AMINOPHENOL|4-Hydroxyaniline|4-aminophenol|4-Aminophenol|p-Aminophenol|p-hydroxyaniline|4-Aminobenzenol HGNC:12637 KDM6A biolink:OntologyClass mondo http://identifiers.org/hgnc/12637 MONDO:0021229 ciliary body neoplasm biolink:Disease mondo NCIT:C4364|UMLS:C0339349 A neoplasm (disease) that involves the ciliary body. NCIT:C4364|UMLS:C0339349 http://purl.obolibrary.org/obo/MONDO_0021229 neoplasm of the ciliary body|ciliary body neoplasm (disease)|neoplasm of ciliary body|ciliary body tumor|tumor of the ciliary body|tumor of ciliary body MONDO:0021228 brainstem neoplasm biolink:Disease mondo Orphanet:36414|NCIT:C4869 A neoplasm (disease) that involves the brainstem. NCIT:C4869|ORPHA:36414 http://purl.obolibrary.org/obo/MONDO_0021228 Brain stem neoplasm|neoplasm of brain stem|brain stem tumor|neoplasm of the brain stem|tumor of brainstem|neoplasm of the brainstem|brainstem neoplasm (disease)|Brain stem neoplasm|tumor of brain stem|tumor of the brain stem|neoplasm of brainstem|tumor of the brainstem|brainstem tumor MONDO:0021227 adrenal gland neoplasm biolink:Disease mondo EFO:0003850|NCIT:C2859|ONCOTREE:ADRENALGLAND A neoplasm (disease) that involves the adrenal gland. NCIT:C2859 http://purl.obolibrary.org/obo/MONDO_0021227 tumor of adrenal gland|neoplasm of the adrenal gland|ADRENALGLAND|adrenal neoplasm|adrenal tumor|adrenal neoplasms|neoplasm of adrenal gland|tumor of the adrenal gland|adrenal gland tumor|adrenal gland neoplasm (disease) GO:0015075 ion transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of an ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0015075 ion transporter activity RO:0000081 role of biolink:OntologyClass mondo a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0000081 RO:0000080 quality of biolink:OntologyClass mondo a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0000080 HGNC:24624 SIL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24624 MONDO:0021226 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021226 MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair biolink:Disease mondo ICD10:Q87.1|Orphanet:2701|UMLS:C1843181|UMLS:C3501846|MESH:C564342|SCTID:723444009|OMIMPS:607721|GARD:0010719 Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays. SNOMEDCT:723444009|ORPHA:2701|UMLS:C1843181|http://identifiers.org/omim/607721|UMLS:C3501846|MESH:C564342 http://purl.obolibrary.org/obo/MONDO_0011899 Tosti syndrome|Noonan syndrome-like disorder with loose anagen hair 1|NSLH1|Noonan syndrome-like disorder with loose anagen hair|NSLH|NS/LAH|Noonan syndrome-like disorder with loose anagen hair 1; NSLH1|Noonan syndrome-like disorder with loose anagen hair; NSLH|Noonan-like syndrome with loose anagen hair ordo_malformation_syndrome|clingen|prototype_pattern MONDO:0021225 uvea neoplasm biolink:Disease mondo UMLS:C0042162|NCIT:C3436 A neoplasm (disease) that involves the uvea. NCIT:C3436|UMLS:C0042162 http://purl.obolibrary.org/obo/MONDO_0021225 uveal tumor|tumor of uvea|uvea neoplasm (disease)|neoplasm of the uvea|uveal neoplasm|neoplasm of uvea|uvea tumor|tumor of the uvea MONDO:0008268 polydactyly-myopia syndrome biolink:Disease mondo MESH:C536331|SCTID:82639001|ICD9:625.4|GARD:0004413|Orphanet:2917|OMIM:174310|ICD10:Q87.2 Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. http://identifiers.org/omim/174310|SNOMEDCT:82639001|ORPHA:2917|MESH:C536331 http://purl.obolibrary.org/obo/MONDO_0008268 postaxial polydactyly with progressive myopia|polydactyly, postaxial, with progressive myopia|Czeizel Brooser syndrome|polydactyly myopia syndrome|polydactyly-myopia syndrome|PMS|postaxial polydactyly-progressive myopia syndrome|Czeizel-Brooser syndrome gard_rare|ordo_malformation_syndrome MONDO:0021224 iris neoplasm biolink:Disease mondo UMLS:C0022079|NCIT:C3142 A neoplasm (disease) that involves the iris. UMLS:C0022079|NCIT:C3142 http://purl.obolibrary.org/obo/MONDO_0021224 tumor of iris|neoplasm of the iris|iris neoplasm (disease)|neoplasm of iris|iris tumor|tumor of the iris MONDO:0008269 polydactyly of a biphalangeal thumb biolink:Disease mondo MESH:C536332|Orphanet:93339|ICD10:Q69.1|SCTID:445216006|GARD:0004417|OMIM:174400 Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. ORPHA:93339|http://identifiers.org/omim/174400|SNOMEDCT:445216006|MESH:C536332 http://purl.obolibrary.org/obo/MONDO_0008269 polydactyly, preaxial 1|polydactyly, preaxial type 1|thenar hypoplasia|polydactyly preaxial 1|PPD1|polydactyly, preaxial I|thumb polydactyly|Fromont anomaly|preaxial polydactyly 1|preaxial polydactyly type 1 ordo_morphological_anomaly MONDO:0021223 digestive system neoplasm biolink:Disease mondo EFO:0008549|NCIT:C3052|MESH:D005770 A neoplasm (disease) that involves the digestive system. MESH:D005770|NCIT:C3052 http://purl.obolibrary.org/obo/MONDO_0021223 gastrointestinal system neoplasm|tumor of the GI system|digestive system neoplasm (disease)|tumor of GI system|GI neoplasm|neoplasm of digestive system|digestive system tumor|digestive neoplasm|digestive tumor|tumor of the digestive system|neoplasm of the gastrointestinal system|GI tumor|neoplasm of gastrointestinal system|gastrointestinal system tumor|gastrointestinal tumor|neoplasm of the GI system|tumor of digestive system|neoplasm of GI system|GI system tumor|neoplasm of the digestive system|GI system neoplasm|tumor of the gastrointestinal system|gastrointestinal neoplasm|tumor of gastrointestinal system MONDO:0008266 polydactyly, postaxial, type A1 biolink:Disease mondo OMIM:174200 http://identifiers.org/omim/174200 http://purl.obolibrary.org/obo/MONDO_0008266 polydactyly, postaxial, type A1; PAPA1|polydactyly, postaxial, type A1|polydactyly, postaxial|PAPA1|postaxial polydactyly, type B|postaxial polydactyly, type A MONDO:0021222 lacrimal gland neoplasm biolink:Disease mondo NCIT:C4360 A neoplasm (disease) that involves the lacrimal gland. NCIT:C4360 http://purl.obolibrary.org/obo/MONDO_0021222 neoplasm of the lacrimal gland|neoplasm of lacrimal gland|lacrimal gland tumor|tumor of the lacrimal gland|lacrimal gland neoplasm (disease)|tumor of lacrimal gland MONDO:0008267 orofaciodigital syndrome V biolink:Disease mondo UMLS:C1868118|GARD:0004120|ICD10:Q87.0|Orphanet:2919|SCTID:722105002|DOID:0060375|OMIM:174300|MESH:C557819 Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). http://identifiers.org/omim/174300|MESH:C557819|UMLS:C1868118|ORPHA:2919|SNOMEDCT:722105002|DOID:0060375 http://purl.obolibrary.org/obo/MONDO_0008267 OFD syndrome 5|orofaciodigital syndrome type V|OFD5|Thurston syndrome|polydactyly postaxial with median cleft of upper lip|oral facial digital syndrome type 5|oral-facial-digital syndrome type 5|orofaciodigital syndrome Thurston type|orofaciodigital syndrome V|orofaciodigital syndrome 5|oral facial digital syndrome 5|oral-facial-digital syndrome 5|orofaciodigital syndrome, Thurston type|polydactyly, postaxial, with Median cleft of upper lip|orofaciodigital syndrome V; OFD5|polydactyly, postaxial, with median cleft of upper lip|OFD5|oral-Facial-digital syndrome, type 5|orofaciodigital syndrome type 5|Ofds 5 gard_rare|ordo_malformation_syndrome MONDO:0021221 vestibulocochlear nerve neoplasm biolink:Disease mondo NCIT:C5120|UMLS:C0346330|SCTID:387891008 A neoplasm (disease) that involves the vestibulocochlear nerve. SNOMEDCT:387891008|NCIT:C5120|UMLS:C0346330 http://purl.obolibrary.org/obo/MONDO_0021221 tumor of vestibulocochlear nerve|tumor of acoustic nerve|neoplasm of the vestibulocochlear nerve|tumor of the acoustic nerve|tumor of eighth cranial nerve|tumor of the eighth cranial nerve|vestibulocochlear nerve neoplasms|neoplasm of vestibulocochlear nerve|vestibulocochlear nerve neoplasm (disease)|cranial nerve eight neoplasms|vestibulocochlear nerve tumor|tumor of the vestibulocochlear nerve|neoplasm of acoustic nerve|acoustic nerve tumor|neoplasm of the acoustic nerve|eighth cranial nerve neoplasm|neoplasm of eighth cranial nerve|eighth cranial nerve tumor|acoustic nerve neoplasm|neoplasm of the eighth cranial nerve|Vestibuloacoustic nerve neoplasms|eighth cranial nerve neoplasms MONDO:0021220 eye neoplasm biolink:Disease mondo NCIT:C3030|ONCOTREE:EYE A neoplasm (disease) that involves the eye. NCIT:C3030 http://purl.obolibrary.org/obo/MONDO_0021220 tumor of eyeball of camera-type eye|neoplasm of eye|tumor of eye|neoplasm of the eye|eye neoplasm (disease)|eyeball of camera-type eye neoplasm|neoplasm of eyeball of camera-type eye|eyeball of camera-type eye tumor|ocular neoplasm|ocular tumor|tumor of the eye|eye tumor MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia biolink:Disease mondo UMLS:CN536252|GARD:0010801|UMLS:C4511620|EFO:0008617|ICD10:Q61.5|UMLS:C4054549|UMLS:CN204412|SCTID:444699000|MESH:C536137|Orphanet:34149|MEDGEN:881357|MEDGEN:358137 A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). ORPHA:34149|MESH:C536137|http://identifiers.org/medgen/881357|SNOMEDCT:444699000|UMLS:CN536252|UMLS:C4054549|http://identifiers.org/medgen/358137|UMLS:C4511620|UMLS:CN204412 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia|medullary cystic kidney disease|polycystic kidneys, medullary type|ADTKD|autosomal dominant tubulointerstitial kidney disease|MCKD|medullary cystic disease|autosomal dominant interstitial kidney disease|autosomal dominant medullary cystic kidney disease ordo_disease|gard_rare RO:0000087 has role biolink:OntologyClass mondo a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0000087 MONDO:0008265 polycystic liver disease 1 biolink:Disease mondo MedDRA:10048834|ICD10:Q44.6|OMIM:174050|UMLS:C4255088|SCTID:716196007|Orphanet:2924|MedDRA:10010427 A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver. SNOMEDCT:716196007|UMLS:C4255088|MEDDRA:10010427|ORPHA:2924|MEDDRA:10048834|http://identifiers.org/omim/174050 http://purl.obolibrary.org/obo/MONDO_0008265 polycystic liver disease; PCLD|PCLD1|nonsyndromic polycystic liver disease (disease)|isolated autosomal dominant polycystic liver disease|polycystic liver disease|polycystic liver disease 1 with or without kidney cysts|ADPCLD|autosomal dominant polycystic liver disease|nonsyndromic congenital polycystic liver disease|PCLD|isolated polycystic liver disease|polycystic liver disease 1 with or without kidney cysts; PCLD1|isolated congenital polycystic liver disease ordo_malformation_syndrome RO:0000086 has quality biolink:OntologyClass mondo a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0000086 MONDO:0008262 Poland syndrome biolink:Disease mondo MedDRA:10036007|UMLS:C0032357|MESH:D011045|SCTID:38371006|Orphanet:2911|OMIM:173800|ICD9:756.89|ICD10:Q79.8|GARD:0007412|DOID:12961|NCIT:C85017 Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. SNOMEDCT:38371006|UMLS:C0032357|MEDDRA:10036007|http://identifiers.org/omim/173800|ORPHA:2911|MESH:D011045|NCIT:C85017|DOID:12961 http://purl.obolibrary.org/obo/MONDO_0008262 Poland syndrome|Poland anomaly|Poland syndactyly|Poland's syndactyly|unilateral defect of pectoralis muscle and syndactyly of the hand|Poland sequence|pectoralis muscle, absence of|Poland's syndrome gard_rare|ordo_malformation_syndrome MONDO:0008263 polycystic kidney disease 1 biolink:Disease mondo OMIM:173900|DOID:0110858|UMLS:C3149841|SCTID:253878003 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. SNOMEDCT:253878003|http://identifiers.org/omim/173900|UMLS:C3149841|DOID:0110858 http://purl.obolibrary.org/obo/MONDO_0008263 polycystic kidney disease 1 with or without polycystic liver disease|Potter type 3 polycystic kidney disease, formerly|Potter type 3 polycystic kidney disease|polycystic kidney disease 1|polycystic kidney disease 1 with or without polycystic liver disease; PKD1|polycystic kidney disease, adult|polycystic kidney disease, adult, type 1|PKD1 autosomal dominant polycystic kidney disease|polycystic kidney disease 1; PKD1|autosomal dominant polycystic kidney disease caused by mutation in PKD1|PKD1|polycystic kidney disease, adult, type I|APKD1|PKD1|polycystic kidney disease type 1 MONDO:0008260 Kindler syndrome biolink:Disease mondo OMIM:173650|GARD:0004391|MESH:C536321|Orphanet:2908|DOID:0060472|SCTID:238836000|ICD10:Q81.8 Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. http://identifiers.org/omim/173650|UMLS:C0406557|ORPHA:2908|MESH:C536321|DOID:0060472|SNOMEDCT:238836000 http://purl.obolibrary.org/obo/MONDO_0008260 KS|poikiloderma, hereditary acrokeratotic|hereditary acrokeratotic poikiloderma of Kindler-Weary|Kindler syndrome|congenital bullous poikiloderma|poikiloderma, congenital, with bullae, Weary type|KINDLER syndrome; KNDLRS|KNDLRS|poikiloderma of Kindler|bullous acrokeratotic poikiloderma of Kindler and Weary ordo_clinical_subtype HGNC:12642 VAMP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12642 MONDO:0008261 hereditary sclerosing poikiloderma, Weary type biolink:Disease mondo ICD10:Q82.8|OMIM:173700|Orphanet:221039|MESH:C562824 http://identifiers.org/omim/173700|UMLS:C1275083|ORPHA:221039|MESH:C562824 http://purl.obolibrary.org/obo/MONDO_0008261 poikiloderma, hereditary sclerosing ordo_disease MONDO:0021219 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021219 MONDO:0021218 placenta neoplasm biolink:Disease mondo NCIT:C4858|GARD:0007403 A neoplasm (disease) that involves the placenta. NCIT:C4858 http://purl.obolibrary.org/obo/MONDO_0021218 placental tumor|tumor of placenta|neoplasm of the placenta|placenta tumors|placenta neoplasms|placental neoplasm|neoplasm of placenta|trophoblastic tumor placental site|placental tumors|placenta tumor|tumor of the placenta|placenta neoplasm (disease) MONDO:0021217 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021217 MONDO:0021216 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021216 FOODON:03307455 cow milk (raw) biolink:OntologyClass mondo SUBSET_SIREN:F7455 http://purl.obolibrary.org/obo/FOODON_03307455 milk|raw milk "subset_siren" GO:0015085 calcium ion transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of calcium (Ca) ions from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0015085 MONDO:0021294 carcinoma in situ of gastric cardia biolink:Disease mondo NCIT:C4428|UMLS:C0345795|SCTID:92560002 A in situ carcinoma that involves the cardia of stomach. NCIT:C4428|UMLS:C0345795|SNOMEDCT:92560002 http://purl.obolibrary.org/obo/MONDO_0021294 cardia of stomach carcinoma in situ|carcinoma in situ of the gastric cardia|carcinoma in situ of cardia of stomach|carcinoma in situ of the cardia of the stomach|gastric cardia carcinoma in situ aJCC v6 and v7|stage 0 cardia of stomach carcinoma|gastric cardia carcinoma in situ|cardia of stomach in situ carcinoma|stage 0 gastric cardia carcinoma MONDO:0021292 carcinoma in situ of gastric body biolink:Disease mondo UMLS:C0345805|NCIT:C4430|SCTID:92549006 A in situ carcinoma that involves the body of stomach. NCIT:C4430|SNOMEDCT:92549006|UMLS:C0345805 http://purl.obolibrary.org/obo/MONDO_0021292 carcinoma in situ of the gastric body|stage 0 body of stomach carcinoma|body of stomach in situ carcinoma|carcinoma in situ of the body of the stomach|carcinoma in situ of body of stomach|stage 0 gastric body carcinoma|gastric body carcinoma in situ|gastric body carcinoma in situ aJCC v6 and v7|body of stomach carcinoma in situ MONDO:0021291 carcinoma in situ of fundus of stomach biolink:Disease mondo UMLS:C0345800|SCTID:92598002|NCIT:C4429 A in situ carcinoma that involves the fundus of stomach. NCIT:C4429|UMLS:C0345800|SNOMEDCT:92598002 http://purl.obolibrary.org/obo/MONDO_0021291 carcinoma in situ of the fundus of the stomach|stage 0 gastric fundus carcinoma|gastric fundus carcinoma in situ|gastric fundus carcinoma in situ aJCC v6 and v7|stage 0 fundus of stomach carcinoma|fundus of stomach in situ carcinoma|carcinoma in situ of gastric fundus|carcinoma in situ of the gastric fundus|fundus of stomach carcinoma in situ|carcinoma in situ of fundus of stomach MONDO:0021290 carcinoma in situ of appendix biolink:Disease mondo NCIT:C4593|UMLS:C0347125|SCTID:92539008 A in situ carcinoma that involves the vermiform appendix. NCIT:C4593|SNOMEDCT:92539008|UMLS:C0347125 http://purl.obolibrary.org/obo/MONDO_0021290 vermiform appendix carcinoma in situ|stage 0 appendix cancer|stage 0 vermiform appendix carcinoma|carcinoma in situ of the appendix|stage 0 appendix carcinoma aJCC v7|vermiform appendix in situ carcinoma|carcinoma in situ of vermiform appendix|stage 0 appendix carcinoma HGNC:12605 CLRN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12605 MONDO:0021299 carcinoma in situ of extrahepatic bile duct biolink:Disease mondo SCTID:92589000|UMLS:C0345914|NCIT:C4442 A in situ carcinoma that involves the extrahepatic bile duct. NCIT:C4442|SNOMEDCT:92589000|UMLS:C0345914 http://purl.obolibrary.org/obo/MONDO_0021299 extrahepatic biliary duct carcinoma in situ|carcinoma in situ of extrahepatic biliary ducts|stage 0 extrahepatic bile duct cancer|extrahepatic bile duct cancer stage 0|extrahepatic bile duct in situ carcinoma|carcinoma in situ of the extrahepatic bile duct|carcinoma in situ of extrahepatic bile duct|stage 0 carcinoma of extrahepatic bile duct|carcinoma in situ of extrahepatic bile ducts|stage 0 carcinoma of the extrahepatic bile duct|stage 0 extrahepatic bile duct carcinoma in situ|stage 0 extrahepatic bile duct carcinoma|extrahepatic bile duct carcinoma in situ MONDO:0021298 carcinoma in situ of oropharynx biolink:Disease mondo UMLS:C0347099|SCTID:92668003|NCIT:C4590 A in situ carcinoma that involves the oropharynx. UMLS:C0347099|NCIT:C4590|SNOMEDCT:92668003 http://purl.obolibrary.org/obo/MONDO_0021298 stage 0 oropharyngeal carcinoma aJCC v7|carcinoma in situ of the oropharynx|stage 0 oropharyngeal carcinoma aJCC v6|stage 0 carcinoma of oropharynx|oropharyngeal carcinoma in situ|stage 0 oropharyngeal carcinoma aJCC v6 and v7|stage 0 carcinoma of the oropharynx|stage 0 oropharyngeal carcinoma in situ|oropharynx in situ carcinoma|carcinoma in situ of oropharynx|stage 0 oropharynx carcinoma|stage 0 oropharyngeal carcinoma|oropharynx carcinoma in situ|stage 0 oropharyngeal cancer|stage 0 oropharyngeal throat cancer|oropharyngeal cancer stage 0 MONDO:0021297 carcinoma in situ of nasopharynx biolink:Disease mondo NCIT:C9099|UMLS:C0347096|UMLS:C4331312|SCTID:92664001 A in situ carcinoma that involves the nasopharynx. UMLS:C0347096|NCIT:C9099|UMLS:C4331312|SNOMEDCT:92664001 http://purl.obolibrary.org/obo/MONDO_0021297 stage 0 nasopharyngeal cancer|nasopharyngeal carcinoma in situ|stage 0 nasopharyngeal carcinoma|stage 0 carcinoma of the nasopharynx|stage 0 carcinoma of nasopharynx|stage 0 nasopharyngeal throat cancer|stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8|carcinoma in situ of the nasopharynx|stage 0 nasopharyngeal carcinoma aJCC v8|stage 0 nasopharyngeal carcinoma aJCC v7|stage 0 nasopharyngeal carcinoma aJCC v6|nasopharynx in situ carcinoma|nasopharynx carcinoma in situ|carcinoma in situ of nasopharynx|stage 0 nasopharynx carcinoma|stage 0 nasopharyngeal carcinoma in situ MONDO:0021296 carcinoma in situ of renal pelvis biolink:Disease mondo NCIT:C4597|UMLS:C0347184|ICD9:233.9|SCTID:92697000 A in situ carcinoma that involves the renal pelvis. UMLS:C0347184|NCIT:C4597|SNOMEDCT:92697000 http://purl.obolibrary.org/obo/MONDO_0021296 stage 0is carcinoma of the kidney pelvis|renal pelvis in situ carcinoma|kidney pelvis carcinoma in situ|stage 0is carcinoma of kidney pelvis|stage 0is renal pelvis cancer aJCC v7|carcinoma in situ of renal pelvis|carcinoma in situ of the renal pelvis|stage 0is renal pelvis urothelial carcinoma|stage 0is kidney renal pelvis urothelial cancer|stage 0is renal pelvis cancer|stage 0is kidney pelvis carcinoma|carcinoma in situ of the kidney pelvis|stage 0 renal pelvis carcinoma|renal pelvis carcinoma in situ|carcinoma in situ of kidney pelvis|stage 0is carcinoma of renal pelvis|stage 0is renal pelvis urothelial carcinoma aJCC v7|stage 0is carcinoma of the renal pelvis MONDO:0033204 ciliary dyskinesia, primary, 37 biolink:Disease mondo DOID:0080266|OMIM:617577 DOID:0080266|http://identifiers.org/omim/617577 http://purl.obolibrary.org/obo/MONDO_0033204 CILD37|ciliary dyskinesia, primary, 37; CILD37|ciliary dyskinesia, primary, 37, with or without situs inversus|primary ciliary dyskinesia 37 MONDO:0033202 deafness, autosomal recessive 109 biolink:Disease mondo OMIM:618013|UMLS:CN248519 http://identifiers.org/omim/618013|UMLS:CN248519 http://purl.obolibrary.org/obo/MONDO_0033202 deafness, autosomal recessive 109; DFNB109|DFNB109 MONDO:0033203 nephrotic syndrome 14 biolink:Disease mondo Orphanet:506334|UMLS:CN339707|DOID:0080265|OMIM:617575 DOID:0080265|UMLS:CN339707|http://identifiers.org/omim/617575|ORPHA:506334 http://purl.obolibrary.org/obo/MONDO_0033203 nephrotic syndrome 14; NPHS14|NPHS14|nephrotic syndrome, type 14|familial steroid-resistant nephrotic syndrome with adrenal insufficiency|primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency ordo_disease MONDO:0033200 deafness, autosomal recessive 108 biolink:Disease mondo OMIM:617654|DOID:0080263 DOID:0080263|http://identifiers.org/omim/617654 http://purl.obolibrary.org/obo/MONDO_0033200 deafness, autosomal recessive 108; DFNB108|autosomal recessive nonsyndromic deafness 108|DFNB108 MONDO:0033201 deafness, autosomal recessive 57 biolink:Disease mondo UMLS:CN248511|OMIM:618003 http://identifiers.org/omim/618003|UMLS:CN248511 http://purl.obolibrary.org/obo/MONDO_0033201 deafness, autosomal recessive 57; DFNB57|DFNB57 FOODON:00001958 human milk based food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001958 MONDO:0021284 carcinoma in situ of ureter biolink:Disease mondo SCTID:92782006|UMLS:C0346267|ICD9:233.9|NCIT:C4529 A in situ carcinoma that involves the ureter. NCIT:C4529|SNOMEDCT:92782006|UMLS:C0346267 http://purl.obolibrary.org/obo/MONDO_0021284 ureter carcinoma in situ|stage 0is ureter urothelial cancer|stage 0is carcinoma of ureter|stage 0is carcinoma of the ureter|stage 0is ureter cancer aJCC v7|stage 0is ureter urothelial carcinoma|ureteral carcinoma in situ|stage 0 ureter carcinoma|carcinoma in situ of the ureter|stage 0is ureter carcinoma|stage 0is ureter cancer|ureter cancer stage 0is|ureter in situ carcinoma|stage 0is ureter urothelial carcinoma aJCC v7|carcinoma in situ of ureter|stage 0is ureteral carcinoma MONDO:0021283 malignant teratoma of mediastinum biolink:Disease mondo SCTID:278042005|NCIT:C4668|UMLS:C0349663 A malignant teratoma that involves the mediastinum. UMLS:C0349663|NCIT:C4668|SNOMEDCT:278042005 http://purl.obolibrary.org/obo/MONDO_0021283 immature malignant teratoma of mediastinum|mediastinum malignant teratoma|malignant mediastinal teratoma|malignant teratoma of the mediastinum|mediastinal immature malignant teratoma|immature malignant teratoma of the mediastinum MONDO:0021282 malignant teratoma of testis biolink:Disease mondo ICD9:186.9|SCTID:416769008|NCIT:C6353|UMLS:C1334154 A malignant teratoma that involves the testis. UMLS:C1334154|SNOMEDCT:416769008|NCIT:C6353 http://purl.obolibrary.org/obo/MONDO_0021282 testicular malignant teratoma|testis malignant teratoma|malignant testicular teratoma|immature teratoma of testis|immature teratoma of the testis|immature testicular teratoma|testicular immature teratoma|malignant teratoma of the testis MONDO:0021281 cavernous hemangioma of retina biolink:Disease mondo UMLS:C0730304|NCIT:C4921|SCTID:312937006 A cavernous hemangioma that involves the retina. UMLS:C0730304|NCIT:C4921|SNOMEDCT:312937006 http://purl.obolibrary.org/obo/MONDO_0021281 retina cavernous angioma|cavernous hemangioma of the retina|retinal cavernous hemangioma|retina cavernous hemangioma|cavernous angioma of retina|cavernous angioma of the retina|retinal cavernous angioma MONDO:0021280 mucoepidermoid carcinoma of parotid gland biolink:Disease mondo UMLS:C1335363|NCIT:C5938|SCTID:423793008 A mucoepidermoid carcinoma that involves the parotid gland. NCIT:C5938|UMLS:C1335363|SNOMEDCT:423793008 http://purl.obolibrary.org/obo/MONDO_0021280 mucoepidermoid carcinoma of the parotid gland|parotid gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the parotid|mucoepidermoid carcinoma of parotid|parotid mucoepidermoid carcinoma MONDO:0021289 carcinoma in situ of cecum biolink:Disease mondo SCTID:92559007|UMLS:C0347126|NCIT:C4594 A in situ carcinoma that involves the caecum. UMLS:C0347126|NCIT:C4594|SNOMEDCT:92559007 http://purl.obolibrary.org/obo/MONDO_0021289 carcinoma in situ of the cecum|caecum in situ carcinoma|carcinoma in situ of caecum|cecum carcinoma in situ|caecum carcinoma in situ|stage 0 cecum carcinoma|stage 0 caecum carcinoma|cecum carcinoma in situ aJCC v7|cecum carcinoma in situ aJCC v6 MONDO:0021288 carcinoma in situ of hypopharynx biolink:Disease mondo NCIT:C9101|UMLS:C0347100|UMLS:C4331310|SCTID:92612007 A in situ carcinoma that involves the hypopharynx. UMLS:C4331310|UMLS:C0347100|NCIT:C9101|SNOMEDCT:92612007 http://purl.obolibrary.org/obo/MONDO_0021288 hypopharynx carcinoma in situ|stage 0 hypopharyngeal carcinoma in situ|carcinoma in situ of hypopharynx|hypopharyngeal carcinoma in situ|stage 0 hypopharynx carcinoma|stage 0 hypopharyngeal carcinoma|stage 0 hypopharyngeal cancer|stage 0 carcinoma of the hypopharynx|stage 0 hypopharyngeal throat cancer|stage 0 carcinoma of hypopharynx|stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8|stage 0 hypopharyngeal carcinoma aJCC v8|carcinoma in situ of the hypopharynx|stage 0 hypopharyngeal carcinoma aJCC v7|stage 0 hypopharyngeal carcinoma aJCC v6|hypopharynx in situ carcinoma MONDO:0021287 carcinoma in situ of epiglottis biolink:Disease mondo SCTID:92584005|UMLS:C0347103|NCIT:C4592 A in situ carcinoma that involves the epiglottis. UMLS:C0347103|SNOMEDCT:92584005|NCIT:C4592 http://purl.obolibrary.org/obo/MONDO_0021287 epiglottis in situ carcinoma|carcinoma in situ of epiglottis|epiglottis carcinoma in situ|Epiglottis carcinoma in situ|stage 0 epiglottic carcinoma|epiglottic carcinoma in situ|stage 0 epiglottic throat cancer|stage 0 epiglottic carcinoma aJCC v6, v7, and v8|stage 0 epiglottis carcinoma|stage 0 epiglottic carcinoma aJCC v8|stage 0 epiglottic carcinoma aJCC v7|carcinoma in situ of the Epiglottis|stage 0 epiglottic carcinoma aJCC v6 MONDO:0021286 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021286 MONDO:0021285 carcinoma in situ of urethra biolink:Disease mondo SCTID:92784007|NCIT:C4531|UMLS:C0346280|ICD9:233.9 A in situ carcinoma that involves the urethra. UMLS:C0346280|NCIT:C4531|SNOMEDCT:92784007 http://purl.obolibrary.org/obo/MONDO_0021285 carcinoma in situ of urethra|stage 0is urethral cancer aJCC v7|stage 0is carcinoma of the urethra|urethra carcinoma in situ|stage 0is carcinoma of urethra|stage 0 urethra carcinoma|stage 0is urethral carcinoma|stage 0is urethral cancer|urethra in situ carcinoma|stage 0is urethra carcinoma|carcinoma in situ of the urethra|urethral carcinoma in situ RO:0000057 has participant biolink:OntologyClass mondo a relation between a process and a continuant, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/RO_0000057 HP:0000202 Oral cleft biolink:PhenotypicFeature mondo UMLS:C0158646|SNOMEDCT_US:253983005|SNOMEDCT_US:66948001|UMLS:C4021813 The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. http://purl.obolibrary.org/obo/HP_0000202 Cleft lip/palate|Cleft lip, cleft palate|Cleft of the mouth|Oral clefting HP:0000201 Pierre-Robin sequence biolink:PhenotypicFeature mondo UMLS:C0031900|SNOMEDCT_US:4602007|MSH:D010855 Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. http://purl.obolibrary.org/obo/HP_0000201 Pierre-robin anomaly|Pierre Robin sequence|Pierre-robin malformation|Pierre-robin deformity|Robin sequence GO:0015067 amidinotransferase activity biolink:OntologyClass mondo Catalysis of the reversible transfer of an amidino group to an acceptor. http://purl.obolibrary.org/obo/GO_0015067 transamidinase activity GO:0015068 glycine amidinotransferase activity biolink:OntologyClass mondo Catalysis of the reaction: L-arginine + glycine = L-ornithine + guanidinoacetate. http://purl.obolibrary.org/obo/GO_0015068 arginine-glycine amidinotransferase activity|glycine transamidinase activity|arginine-glycine transamidinase activity|L-arginine:glycine amidinotransferase activity MONDO:0033211 diencephalic-mesencephalic junction dysplasia syndrome biolink:Disease mondo OMIMPS:251280 http://purl.obolibrary.org/obo/MONDO_0033211 MONDO:0021273 leiomyoma of ciliary body biolink:Disease mondo UMLS:C0346386|SCTID:255020006|ICD9:224.0|NCIT:C4560 A leiomyoma that involves the ciliary body. NCIT:C4560|UMLS:C0346386|SNOMEDCT:255020006 http://purl.obolibrary.org/obo/MONDO_0021273 leiomyoma of the ciliary body|ciliary body leiomyoma MONDO:0021272 inherited orthostatic hypotension biolink:Disease mondo OMIMPS:223360 http://purl.obolibrary.org/obo/MONDO_0021272 MONDO:0021271 villous adenoma of colon biolink:Disease mondo UMLS:C0149862|SCTID:309084001|NCIT:C3495 A villous adenoma that involves the colon. UMLS:C0149862|NCIT:C3495|SNOMEDCT:309084001 http://purl.obolibrary.org/obo/MONDO_0021271 colonic villous adenoma|colon villous adenoma|villous adenoma of the colon RO:0000052 inheres in biolink:OntologyClass mondo a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0000052 MONDO:0021279 mucoepidermoid carcinoma of submandibular gland biolink:Disease mondo NCIT:C5939|SCTID:423424005|UMLS:C1336524 A mucoepidermoid carcinoma that involves the submandibular gland. SNOMEDCT:423424005|UMLS:C1336524|NCIT:C5939 http://purl.obolibrary.org/obo/MONDO_0021279 submandibular gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the submandibular gland HP:0002835 Aspiration biolink:PhenotypicFeature mondo UMLS:C2712334|SNOMEDCT_US:413585005|UMLS:C0700198|SNOMEDCT_US:68052005 Inspiration of a foreign object into the airway. http://purl.obolibrary.org/obo/HP_0002835 Pulmonary aspiration MONDO:0021278 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021278 MONDO:0008299 posterior column ataxia biolink:Disease mondo OMIM:176250|GARD:0010044|UMLS:C1867923|MESH:C536342 MESH:C536342|http://identifiers.org/omim/176250|UMLS:C1867923 http://purl.obolibrary.org/obo/MONDO_0008299 Biemond ataxia|posterior column ataxia gard_rare RO:0000056 participates in biolink:OntologyClass mondo a relation between a continuant and a process, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/RO_0000056 MONDO:0021276 papilloma of buccal mucosa biolink:Disease mondo SCTID:448147005|ICD9:210.4|UMLS:C1332641|NCIT:C5819 A papilloma that involves the buccal mucosa. SNOMEDCT:448147005|NCIT:C5819|UMLS:C1332641 http://purl.obolibrary.org/obo/MONDO_0021276 buccal mucosa papilloma|papilloma of the buccal mucosa MONDO:0008297 variegate porphyria biolink:Disease mondo NCIT:C85219|GARD:0007848|MESH:D046350|SCTID:58275005|DOID:4346|ICD10:E80.2|Orphanet:79473|UMLS:C0162532|OMIM:176200 Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions. UMLS:C0162532|DOID:4346|http://identifiers.org/omim/176200|SNOMEDCT:58275005|ORPHA:79473|NCIT:C85219|MESH:D046350 http://purl.obolibrary.org/obo/MONDO_0008297 PPOX deficiency|porphyria variegate|porphyria, South African type|protoporphyrinogen oxidase deficiency|porphyria variegata|VP|Protocoproporphyria|variegate porphyria|variegate porphyria, homozygous variant ordo_disease|gard_rare MONDO:0021275 papilloma of eyelid biolink:Disease mondo NCIT:C4061|SCTID:314515006|UMLS:C1142491 A papilloma that involves the eyelid. NCIT:C4061|UMLS:C1142491|SNOMEDCT:314515006 http://purl.obolibrary.org/obo/MONDO_0021275 papilloma of the eyelid|eyelid papilloma MONDO:0008298 postaxial tetramelic oligodactyly biolink:Disease mondo MESH:C566767|ICD10:Q73.8|Orphanet:2730|GARD:0004065|OMIM:176240|UMLS:C1867924 Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. ORPHA:2730|MESH:C566767|http://identifiers.org/omim/176240|UMLS:C1867924 http://purl.obolibrary.org/obo/MONDO_0008298 postaxial oligodactyly, tetramelic|oligodactyly tetramelic postaxial ordo_malformation_syndrome|gard_rare RO:0000053 bearer of biolink:OntologyClass mondo a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0000053 MONDO:0008295 sporadic porphyria cutanea tarda biolink:Disease mondo SCTID:402479002|UMLS:C1867968|OMIM:176090|Orphanet:443057|UMLS:C1276127|ICD10:E80.1|MESH:C566768 An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual. MESH:C566768|http://identifiers.org/omim/176090|UMLS:C1276127|UMLS:C1867968|ORPHA:443057|SNOMEDCT:402479002 http://purl.obolibrary.org/obo/MONDO_0008295 acquired porphyria cutanea tarda|PCT, 'sporadic' type|PCT, type 1|porphyria cutanea tarda, type I|porphyria cutanea tarda type I|porphyria cutanea tarda, type 1 ordo_clinical_subtype MONDO:0008296 familial porphyria cutanea tarda biolink:Disease mondo UMLS:C0268323|ICD10:E80.1|OMIM:176100|Orphanet:443062|SCTID:59229005 An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome. http://identifiers.org/omim/176100|SNOMEDCT:59229005|ORPHA:443062|UMLS:C0268323 http://purl.obolibrary.org/obo/MONDO_0008296 porphyria, hepatoerythropoietic|hereditary porphyria cutanea tarda|porphyria, Hepatocutaneous type|PCT|porphyria cutanea tarda, type 2|porphyria cutanea tarda|uroporphyrinogen decarboxylase deficiency|Urod deficiency|PCT, 'familial' type|porphyria cutanea tarda type II|PCT, type 2 ordo_clinical_subtype MONDO:0008293 porokeratosis 3, disseminated superficial actinic type biolink:Disease mondo MESH:C536339|OMIM:175900|GARD:0009505 MESH:C536339|http://identifiers.org/omim/175900 http://purl.obolibrary.org/obo/MONDO_0008293 porokeratosis 3, multiple types; POROK3|porokeratosis, disseminated superficial actinic 1|porokeratosis 3, disseminated superficial actinic type|DSAP1|Dsap|porokeratosis 3, multiple types|POROK3|porokeratosis 3, disseminated superficial actinic type; POROK3|porokeratosis, disseminated superficial actinic, 1 MONDO:0008294 acute intermittent porphyria biolink:Disease mondo UMLS:C0162565|Orphanet:79276|NCIT:C84536|ICD10:E80.2|DOID:3890|GARD:0005732|SCTID:234422006|MESH:D017118|OMIM:176000 Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. UMLS:C0162565|http://identifiers.org/omim/176000|ORPHA:79276|DOID:3890|MESH:D017118|NCIT:C84536|SNOMEDCT:234422006 http://purl.obolibrary.org/obo/MONDO_0008294 AIP|porphyria, Chester type|pyrroloporphyria|PBGD deficiency|uroporphyrinogen synthase deficiency|hydroxymethylbilane synthase deficiency|porphyria, acute intermittent|HMBS deficiency|porphyria intermittent acute|porphyria, acute intermittent; AIP|porphyria, acute intermittent, Nonerythroid variant|AIP - acute intermittent porphyria|UPS deficiency|porphobilinogen deaminase deficiency|porphyria, Swedish type ordo_disease MONDO:0008291 porokeratosis plantaris palmaris et disseminata biolink:Disease mondo OMIM:175850|SCTID:718218005|Orphanet:737|ICD10:Q82.8 Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. ORPHA:737|http://identifiers.org/omim/175850|SNOMEDCT:718218005 http://purl.obolibrary.org/obo/MONDO_0008291 porokeratosis 2, palmar, plantar, and disseminated type; POROK2|POROK2|palmar, plantar and disseminated porokeratosis|porokeratosis, palmar, plantar, and disseminated, 1|porokeratosis plantaris palmaris et disseminata|porokeratosis, palmar, plantar, and disseminated|porokeratosis palmaris Et plantaris disseminata|porokeratosis 2, palmar, plantar, and disseminated type ordo_disease MONDO:0008292 punctate palmoplantar keratoderma type 2 biolink:Disease mondo Orphanet:79502|OMIM:175860|UMLS:C1867982|ICD10:Q82.8|SCTID:765096001|GARD:0004439|DOID:0080213 Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed. ORPHA:79502|UMLS:C1867982|http://identifiers.org/omim/175860|SNOMEDCT:765096001|DOID:0080213 http://purl.obolibrary.org/obo/MONDO_0008292 porokeratosis punctata palmaris Et plantaris|palmoplantar keratoderma, punctate type II|PPPP|type 2 punctate PPK|palmoplantar keratoderma, punctate type II; PPKP2|keratoderma palmoplantar, punctate type 2|punctate palmoplantar hyperkeratosis type 2|punctate palmoplantar keratoderma type II|PPKP2 ordo_disease MONDO:0008290 POROK1 biolink:Disease mondo OMIM:175800 http://identifiers.org/omim/175800 http://purl.obolibrary.org/obo/MONDO_0008290 porokeratosis of Mibelli|porokeratosis 1, multiple types; POROK1|POROK1|porokeratosis 1, MIBELLI type|porokeratosis 1, multiple types|porokeratosis 1, MIBELLI type; POROK1 GO:0015031 protein transport biolink:OntologyClass mondo The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015031 enzyme transport MONDO:0021260 sensory ganglionopathy biolink:Disease mondo A disease or disorder that involves the sensory ganglion. http://purl.obolibrary.org/obo/MONDO_0021260 sensory ganglion disease or disorder|sensory ganglion disease|disorder of sensory ganglion|disorder of sensory ganglion|disease of sensory ganglion|disease or disorder of sensory ganglion GO:0030667 secretory granule membrane biolink:OntologyClass mondo The lipid bilayer surrounding a secretory granule. http://purl.obolibrary.org/obo/GO_0030667 secretory vesicle membrane HP:0002846 Abnormal B cell morphology biolink:PhenotypicFeature mondo UMLS:C4021748 A structural abnormality of B cells. http://purl.obolibrary.org/obo/HP_0002846 Abnormality of B cells|Abnormal B cells MONDO:0035892 Mills syndrome biolink:Disease mondo Orphanet:94091 A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease. ORPHA:94091 http://purl.obolibrary.org/obo/MONDO_0035892 ordo_disease HP:0002840 Lymphadenitis biolink:PhenotypicFeature mondo MSH:D008199|SNOMEDCT_US:19471005|UMLS:C0024205 Inflammation of a lymph node. http://purl.obolibrary.org/obo/HP_0002840 Inflammation of the lymph nodes HGNC:12601 USH2A biolink:OntologyClass mondo http://identifiers.org/hgnc/12601 MONDO:0023833 multifocal choroiditis biolink:Disease mondo GARD:0009824|UMLS:C1533060|SCTID:414783007|MESH:C537374 Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment. SNOMEDCT:414783007|UMLS:C1533060|MESH:C537374 http://purl.obolibrary.org/obo/MONDO_0023833 gard_rare MONDO:0011845 migraine with or without aura, susceptibility to, 3 biolink:Disease mondo OMIM:607498 http://identifiers.org/omim/607498 http://purl.obolibrary.org/obo/MONDO_0011845 migraine with or without aura, susceptibility to, 3|MGR3|migraine with or without aura, susceptibility to, type 3 predisposition GO:0042640 anagen biolink:OntologyClass mondo The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair. http://purl.obolibrary.org/obo/GO_0042640 hair growth MONDO:0011844 myoclonic dystonia 15 biolink:Disease mondo UMLS:C1843786|MESH:C538002|DOID:0090035|OMIM:607488|Orphanet:210566 A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11. DOID:0090035|UMLS:C1843786|ORPHA:210566|MESH:C538002|http://identifiers.org/omim/607488 http://purl.obolibrary.org/obo/MONDO_0011844 myoclonic dystonia type 15|DYT15|dystonia 15, myoclonic|dystonia 15, myoclonic; DYT15 MONDO:0011847 migraine without aura biolink:Disease mondo HP:0002083|ICD9:346.1|ICD10:G43.0|UMLS:C0338480|EFO:0005296|OMIM:607501|NCIT:C117004|ICD10:G43.009|SCTID:56097005|DOID:12783|MESH:D020326|COHD:378735 A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. UMLS:C0338480|DOID:12783|MESH:D020326|SNOMEDCT:56097005|NCIT:C117004|http://identifiers.org/omim/607501 http://purl.obolibrary.org/obo/MONDO_0011847 migraine without aura, susceptibility to, type 4|migraine without aura, susceptibility to, 4|MGR4|MGOA|common migraine predisposition MONDO:0011846 bulimia nervosa, susceptibility to, 1 biolink:Disease mondo OMIM:607499|UMLS:CN244558 UMLS:CN244558|http://identifiers.org/omim/607499 http://purl.obolibrary.org/obo/MONDO_0011846 bulimia nervosa, susceptibility to; BULN|BULN1|bulimia nervosa, susceptibility to, 1; BULN1|BULN|bulimia nervosa, susceptibility to, 1|BN predisposition MONDO:0011849 psoriatic arthritis biolink:Disease mondo MESH:D015535|SCTID:156370009|ICD10:L40.5|OMIM:607507|ICD9:696.0|UMLS:C0003872|DOID:9008|EFO:0003778|NCIT:C61277|ICD10:L40.50 Joint inflammation associated with psoriasis. http://identifiers.org/omim/607507|NCIT:C61277|SNOMEDCT:156370009|DOID:9008|MESH:D015535|UMLS:C0003872 http://purl.obolibrary.org/obo/MONDO_0011849 psoriatic arthritis, susceptibility to|arthropathic psoriasis|arthritis psoriatica|psoriatic arthropathy|psoriatic arthritis, susceptibility to, 1|susceptibility to psoriatic arthritis predisposition MONDO:0011848 headache associated with sexual activity biolink:Disease mondo OMIM:607504|COHD:374342|ICD10:G44.82 http://identifiers.org/omim/607504 http://purl.obolibrary.org/obo/MONDO_0011848 headache associated with sexual activity|HSA|headache associated with sexual activity; HSA|benign sexual headache UBERON:0007499 epithelial sac biolink:AnatomicalEntity mondo An epithelial tube that is open at one end only. http://purl.obolibrary.org/obo/UBERON_0007499 HGNC:3363 ENTPD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3363 MONDO:0011850 migraine with or without aura, susceptibility to, 5 biolink:Disease mondo OMIM:607508 http://identifiers.org/omim/607508 http://purl.obolibrary.org/obo/MONDO_0011850 migraine with or without aura, susceptibility to, 5|migraine with or without aura, susceptibility to, type 5|Mgr5 predisposition MONDO:0011852 nonsyndromic congenital nail disorder 8 biolink:Disease mondo UMLS:C1843761|DOID:0080086|MESH:C564384|OMIM:607523 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene. DOID:0080086|http://identifiers.org/omim/607523|UMLS:C1843761|MESH:C564384 http://purl.obolibrary.org/obo/MONDO_0011852 nonsyndromic congenital nail disorder type 8|toenail dystrophy, isolated|inherited isolated nail anomaly caused by mutation in COL7A1|nail disorder, nonsyndromic congenital, 8|nail disorder, nonsyndromic congenital, 8; NDNC8|NDNC8|nail disorder, nonsyndromic congenital, type 8|COL7A1 inherited isolated nail anomaly MONDO:0011851 migraine with or without aura, susceptibility to, 6 biolink:Disease mondo OMIM:607516|MESH:C564385 http://identifiers.org/omim/607516|MESH:C564385 http://purl.obolibrary.org/obo/MONDO_0011851 migraine with or without aura, susceptibility to, 6|migraine with or without aura, susceptibility to, type 6|MGR6|migraine, familial hemiplegic, 4 predisposition MONDO:0011854 secretory diarrhea, myopathy, and deafness biolink:Disease mondo MESH:C564382|OMIM:607540|UMLS:C1843757 http://identifiers.org/omim/607540|UMLS:C1843757|MESH:C564382 http://purl.obolibrary.org/obo/MONDO_0011854 secretory diarrhea, myopathy, and deafness MONDO:0011853 Camptosynpolydactyly, complex biolink:Disease mondo UMLS:C1843758|MESH:C564383|OMIM:607539 http://identifiers.org/omim/607539|UMLS:C1843758|MESH:C564383 http://purl.obolibrary.org/obo/MONDO_0011853 camptosynpolydactyly, complex|camptopolydactyly, disorganization type|CCSPD|camptosynpolydactyly, complex; CCSPD GO:0042645 mitochondrial nucleoid biolink:OntologyClass mondo The region of a mitochondrion to which the DNA is confined. http://purl.obolibrary.org/obo/GO_0042645 MONDO:0008208 patella, familial recurrent dislocation of biolink:Disease mondo UMLS:C1868575|OMIM:169000|MESH:C566816 MESH:C566816|UMLS:C1868575|http://identifiers.org/omim/169000 http://purl.obolibrary.org/obo/MONDO_0008208 patella, familial recurrent dislocation of MONDO:0008209 Char syndrome biolink:Disease mondo SCTID:703534001|OMIM:169100|GARD:0001237|DOID:0060563|UMLS:C1868570|ICD10:Q87.8|MESH:C566815|Orphanet:46627|ICD9:759.89 Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. MESH:C538076|ORPHA:46627|MESH:C566815|UMLS:C1868570|SNOMEDCT:703534001|DOID:0060563|http://identifiers.org/omim/169100 http://purl.obolibrary.org/obo/MONDO_0008209 CHAR syndrome; CHAR|Char|patent ductus arteriosus with facial dysmorphism and abnormal fifth digits|Char syndrome|patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits gard_rare|ordo_malformation_syndrome MONDO:0023820 Moebius axonal neuropathy hypogonadism biolink:Disease mondo GARD:0003698|MESH:C535806 MESH:C535806 http://purl.obolibrary.org/obo/MONDO_0023820 Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type gard_rare NCBITaxon:91827 Gunneridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_91827 core eudicots|core eudicotyledons MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia biolink:Disease mondo SCTID:763127004|UMLS:C1868576|ICD10:G96.8|GARD:0004176|MESH:C566817|OMIM:168885|Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. ORPHA:1179|http://identifiers.org/omim/168885|MESH:C566817|UMLS:C1868576|SNOMEDCT:763127004 http://purl.obolibrary.org/obo/MONDO_0008206 Ouvrier Billson syndrome|Ouvrier-Billson syndrome|paroxysmal tonic upgaze, benign childhood, with ataxia ordo_disease MONDO:0008207 chondromalacia patellae biolink:Disease mondo COHD:81378|SCTID:36071006|ICD9:717.7|OMIM:168900|ICD10:M22.4|DOID:13357|Orphanet:1428|MESH:D046789|UMLS:C0008475 Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission. http://identifiers.org/omim/168900|ORPHA:1428|UMLS:C0008475|DOID:13357|SNOMEDCT:36071006|MESH:D046789 http://purl.obolibrary.org/obo/MONDO_0008207 chondromalacia patellae|familial chondromalacia patellae|patella, chondromalacia OF|patella chondromalacia|softening of articular cartilage of patella|chondromalacia of patella ordo_disease MONDO:0011834 spinocerebellar ataxia type 18 biolink:Disease mondo UMLS:C4304848|ICD10:G11.8|OMIM:607458|MESH:C537197|UMLS:C1843884|DOID:0050969|Orphanet:98771|SCTID:719250005|GARD:0009976 Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia. http://identifiers.org/omim/607458|ORPHA:98771|UMLS:C4304848|UMLS:C1843884|DOID:0050969|MESH:C537197|SNOMEDCT:719250005 http://purl.obolibrary.org/obo/MONDO_0011834 spinocerebellar ataxia 18|sensorimotor neuropathy with ataxia autosomal dominant|SCA18|SMNA|spinocerebellar ataxia 18; SCA18|sensorimotor neuropathy with ataxia, autosomal dominant ordo_disease MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis biolink:Disease mondo OMIM:168850|MESH:C536307 http://identifiers.org/omim/168850|MESH:C536307 http://purl.obolibrary.org/obo/MONDO_0008204 patella aplasia, coxa vara, and tarsal synostosis MONDO:0011833 spinocerebellar ataxia type 21 biolink:Disease mondo DOID:0050972|UMLS:C4305144|OMIM:607454|Orphanet:98773|MESH:C537200|SCTID:718774001|UMLS:C1843891|GARD:0009999|ICD10:G11.1 Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. ORPHA:98773|UMLS:C1843891|DOID:0050972|UMLS:C4305144|MESH:C537200|SNOMEDCT:718774001|http://identifiers.org/omim/607454 http://purl.obolibrary.org/obo/MONDO_0011833 spinocerebellar ataxia 21|spinocerebellar ataxia type 21|spinocerebellar ataxia 21; SCA21|SCA21 ordo_disease MONDO:0008205 patella aplasia/hypoplasia biolink:Disease mondo MESH:C535568|ICD10:Q74.1|GARD:0008709|Orphanet:86789|OMIM:168860 Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date. http://identifiers.org/omim/168860|ORPHA:86789|UMLS:C1868577|MESH:C535568 http://purl.obolibrary.org/obo/MONDO_0008205 patella aplasia-hypoplasia; PTLAH|familial absence of the patella|patella aplasia-hypoplasia|PTLAH|absent patella|familial aplasia of the patella (subtype) ordo_morphological_anomaly MONDO:0011836 thyroid Hurthle cell carcinoma biolink:Disease mondo SCTID:423158009|OMIM:607464|GARD:0009428|MESH:C536913|ONCOTREE:THHC|DOID:8161 http://identifiers.org/omim/607464|MESH:C536913|DOID:8161|SNOMEDCT:423158009 http://purl.obolibrary.org/obo/MONDO_0011836 thyroid cancer, Hurthle cell|thyroid carcinoma, Hurthle cell|thyroid cancer, follicular, Hurthle cell type|Hurthle cell thyroid cancer|oncocytic carcinoma of the thyroid|Hurthle cell thyroid neoplasia|follicular thyroid cancer, Hurthle cell type MONDO:0008202 Parotidomegaly, hereditary bilateral biolink:Disease mondo MESH:C566821|OMIM:168800|UMLS:C1868590 UMLS:C1868590|MESH:C566821|http://identifiers.org/omim/168800 http://purl.obolibrary.org/obo/MONDO_0008202 Parotidomegaly, hereditary bilateral MONDO:0011835 sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome biolink:Disease mondo OMIM:607459|Orphanet:70595|ICD10:G71.3|ICD10:G40.3|OMIM:613832|UMLS:C1843851|Orphanet:402082|GARD:0009998|UMLS:CN226157 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. MESH:C537583|http://identifiers.org/omim/607459|UMLS:C1843851|ORPHA:70595|ORPHA:402082|UMLS:CN226157|http://identifiers.org/omim/613832 http://purl.obolibrary.org/obo/MONDO_0011835 epilepsy, progressive myoclonic, 5, formerly|progressive myoclonus epilepsy type 5|spinocerebellar ataxia with epilepsy|epilepsy, progressive myoclonic, type 5|sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive|SANDO|sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; SANDO|epilepsy, progressive myoclonic, with sensory ataxic neuropathy|epilepsy, progressive myoclonic, 5|progressive myoclonic epilepsy caused by mutation in PRICKLE2|epilepsy, progressive myoclonic, 5; EPM5|PME type 5|EPM5|sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|PRICKLE2 progressive myoclonic epilepsy ordo_disease MONDO:0008203 Passovoy factor defect biolink:Disease mondo UMLS:C3149707|OMIM:168830 http://identifiers.org/omim/168830|UMLS:C3149707 http://purl.obolibrary.org/obo/MONDO_0008203 Passovoy factor defect MONDO:0008200 autosomal dominant Parkinson disease 1 biolink:Disease mondo DOID:0060367|OMIM:168601|MESH:C566823 MESH:C566823|DOID:0060367|http://identifiers.org/omim/168601 http://purl.obolibrary.org/obo/MONDO_0008200 autosomal dominant Parkinson disease type 1|Parkinson disease 1, autosomal dominant Lewy body|atypical Parkinson disease|Parkinson disease 1, autosomal dominant; PARK1|autosomal dominant Parkinson's disease 1|PARK1|Parkinson disease 1, autosomal dominant MONDO:0011838 Bothnia retinal dystrophy biolink:Disease mondo UMLS:C1843816|ICD10:H35.5|DOID:0050683|OMIM:607475|MESH:C564392|SCTID:715647007|Orphanet:85128 Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted. ORPHA:85128|http://identifiers.org/omim/607475|SNOMEDCT:715647007|DOID:0050683|UMLS:C1843816|MESH:C564392 http://purl.obolibrary.org/obo/MONDO_0011838 Vasterbotten dystrophy|Västerbotten dystrophy|Bothnia retinal dystrophy|VC$sterbotten dystrophy ordo_disease MONDO:0008201 Perry syndrome biolink:Disease mondo OMIM:168605|SCTID:699184009|GARD:0010453|ICD9:348.89|DOID:0060486|Orphanet:178509|UMLS:C1868594|MESH:C566822 Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. MESH:C566822|UMLS:C1868594|DOID:0060486|SNOMEDCT:699184009|ORPHA:178509|http://identifiers.org/omim/168605 http://purl.obolibrary.org/obo/MONDO_0008201 parkinsonism with alveolar hypoventilation and mental depression|Perry syndrome|Parkinsonism with alveolar hypoventilation and mental depression gard_rare|ordo_disease MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 biolink:Disease mondo MESH:C564393|OMIM:607473|UMLS:C1843832 Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene. http://identifiers.org/omim/607473|UMLS:C1843832|MESH:C564393 http://purl.obolibrary.org/obo/MONDO_0011837 vitamin K-dependent clotting factors, combined deficiency of, 2|VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1|vitamin K-dependent clotting factors, combined deficiency of, 2; VKCFD2|vitamin K-dependent clotting factors, combined deficiency of, 2|VKCFD2 MONDO:0011839 Newfoundland cone-rod dystrophy biolink:Disease mondo DOID:0111015|MESH:C564391|OMIM:607476|UMLS:C1843815 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene. http://identifiers.org/omim/607476|DOID:0111015|UMLS:C1843815|MESH:C564391 http://purl.obolibrary.org/obo/MONDO_0011839 RLBP1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in RLBP1|Newfoundland ROD-cone dystrophy; NFRCD|NFRCD|Newfoundland ROD-cone dystrophy HGNC:3374 EPAS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3374 HGNC:3373 EP300 biolink:OntologyClass mondo http://identifiers.org/hgnc/3373 MONDO:0011841 biotin-responsive basal ganglia disease biolink:Disease mondo SCTID:703522009|Orphanet:65284|OMIM:607483|UMLS:C1843807|DOID:0050659|MESH:C537658|ICD9:333.99|ICD10:G25.8|GARD:0010237 SNOMEDCT:703522009|ORPHA:65284|MESH:C537658|http://identifiers.org/omim/607483|DOID:0050659|UMLS:C1843807 http://purl.obolibrary.org/obo/MONDO_0011841 biotin-thiamine-responsive basal ganglia disease|basal ganglia disease, biotin-responsive|BTBGD|THMD2|BBGD|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type); THMD2|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)|encephalopathy, thiamine-responsive ordo_disease MONDO:0011840 dilated cardiomyopathy 1M biolink:Disease mondo ICD10:I42.0|MESH:C564390|OMIM:607482|DOID:0110449|UMLS:C1843808 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. http://identifiers.org/omim/607482|UMLS:C1843808|MESH:C564390|DOID:0110449 http://purl.obolibrary.org/obo/MONDO_0011840 cardiomyopathy, dilated, 1M|CSRP3 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1M; CMD1M|dilated cardiomyopathy type 1M|familial isolated dilated cardiomyopathy caused by mutation in CSRP3|CMD1M|cardiomyopathy, dilated, type 1M MONDO:0011843 hypertrophic cardiomyopathy 25 biolink:Disease mondo OMIM:607487|UMLS:C1843791|MESH:C564388|DOID:0110328 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene. MESH:C564388|DOID:0110328|http://identifiers.org/omim/607487|UMLS:C1843791 http://purl.obolibrary.org/obo/MONDO_0011843 Tcap hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 25|cardiomyopathy, familial hypertrophic, 25; CMH25|hypertrophic cardiomyopathy caused by mutation in Tcap|hypertrophic cardiomyopathy caused by mutation in TCAP|CMH25|cardiomyopathy familial hypertrophic 25|cardiomyopathy, familial hypertrophic, type 25|TCAP hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 25 MONDO:0011842 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions biolink:Disease mondo DOID:0060672|OMIM:607485|ICD10:G31.0 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31. DOID:0060672|http://identifiers.org/omim/607485 http://purl.obolibrary.org/obo/MONDO_0011842 frontotemporal dementia with Tdp43 inclusions, Grn-related|frontotemporal lobar degeneration with Tdp43 inclusions, Grn-related|frontotemporal dementia, ubiquitin-positive|frontotemporal lobar Degeneration with ubiquitin-positive inclusions|aphasia, primary progressive|dementia, hereditary dysphasic disinhibition|Ftld-TDP, Grn-related HGNC:3378 EPB41L1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3378 HGNC:3377 EPB41 biolink:OntologyClass mondo http://identifiers.org/hgnc/3377 MONDO:0011823 developmental malformations-deafness-dystonia syndrome biolink:Disease mondo ICD10:Q87.8|OMIM:607371|Orphanet:79107|GARD:0009818|MESH:C537704|UMLS:C1846331 Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. http://identifiers.org/omim/607371|MESH:C537704|ORPHA:79107|UMLS:C1846331 http://purl.obolibrary.org/obo/MONDO_0011823 DJO|juvenile-onset dystonia|dystonia, juvenile-onset|dystonia, juvenile-onset; DJO ordo_malformation_syndrome|gard_rare MONDO:0011822 Bartter disease type 3 biolink:Disease mondo Orphanet:93605|UMLS:C1846343|DOID:0110144|ICD10:E26.8|SCTID:700111000|OMIM:607364|GARD:0009659 Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. http://identifiers.org/omim/607364|DOID:0110144|SNOMEDCT:700111000|ORPHA:93605|UMLS:C1846343 http://purl.obolibrary.org/obo/MONDO_0011822 Bartter syndrome, classic|Bartter syndrome classic|adult Bartter syndrome|Bartter syndrome, type 3; BARTS3|BARTS3|Bartter syndrome type III|Bartter syndrome, type 3, with hypocalciuria|Bartter syndrome type 3|classic Bartter syndrome|Bartter syndrome, type 3 ordo_clinical_subtype MONDO:0011825 streptococcus, group A, severity of infection by biolink:Disease mondo OMIM:607395 http://identifiers.org/omim/607395 http://purl.obolibrary.org/obo/MONDO_0011825 streptococcus, group A, severity of infection by CL:0000988 hematopoietic cell biolink:Cell mondo CALOHA:TS-2017|FMA:70366|FMA:83598|BTO:0000574 A cell of a hematopoietic lineage. http://purl.obolibrary.org/obo/CL_0000988 hemopoietic cell|haemopoietic cell|haematopoietic cell MONDO:0011824 AUTS8 biolink:Disease mondo OMIM:607373 http://identifiers.org/omim/607373 http://purl.obolibrary.org/obo/MONDO_0011824 AUTS2|autism, susceptibility to, 8|autism, susceptibility to, 8; AUTS8|AUTS8|AUTS2, formerly predisposition MONDO:0011827 patent ductus arteriosus biolink:Disease mondo NCIT:C84492|SCTID:83330001|ICD10:Q25.0|COHD:315922|MESH:D004374|DOID:13832|OMIMPS:607411|ICD9:747.0|GARD:0007342 A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. DOID:13832|MESH:D004374|NCIT:C84492|SNOMEDCT:83330001 http://purl.obolibrary.org/obo/MONDO_0011827 ductus arteriosus, patent|patency of the ductus arteriosus|patent ductus botalli|PDA|patent ductus arteriosus familial (type) prototype_pattern|gard_rare MONDO:0011826 glucocorticoid deficiency 2 biolink:Disease mondo OMIM:607398|UMLS:C1846284 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene. http://identifiers.org/omim/607398|UMLS:C1846284 http://purl.obolibrary.org/obo/MONDO_0011826 glucocorticoid deficiency type 2|glucocorticoid deficiency 2; GCCD2|MRAP familial glucocorticoid deficiency|familial glucocorticoid deficiency caused by mutation in MRAP|familial glucocorticoid deficiency 2|glucocorticoid deficiency 2|GCCD2 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 biolink:Disease mondo DOID:0070238|OMIM:607426|UMLS:C3551954 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene. http://identifiers.org/omim/607426|DOID:0070238|UMLS:C3551954 http://purl.obolibrary.org/obo/MONDO_0011829 ubiquinone deficiency 1|coenzyme Q10 deficiency, primary, type 1|CoQ deficiency 1|Coq10 deficiency, primary, 1|coenzyme Q10 deficiency, primary, 1; COQ10D1|coenzyme Q10 deficiency caused by mutation in COQ2|coenzyme Q deficiency 1|COQ2 coenzyme Q10 deficiency|coenzyme Q10 deficiency, primary, 1|COQ10D1 NCBITaxon:42862 Rickettsia felis organism taxon mondo PMID:11321078|PMID:8904435|PMID:12508865|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_42862 Rickettsia azadi MONDO:0011828 intellectual disability, autosomal recessive 2 biolink:Disease mondo OMIM:607417|UMLS:C1843942|MESH:C564404 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene. http://identifiers.org/omim/607417|UMLS:C1843942|MESH:C564404 http://purl.obolibrary.org/obo/MONDO_0011828 mental retardation, autosomal recessive type 2|intellectual disability, autosomal recessive 2; MRT2|CRBN autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 2A|intellectual disability, autosomal recessive type 2|mental retardation, autosomal recessive 2|MRT2|autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN|mental retardation, autosomal recessive 2; MRT2|intellectual disability, autosomal recessive 2A|intellectual disability, autosomal recessive 2 MONDO:0023809 Milner-Khallouf-Gibson syndrome biolink:Disease mondo UMLS:C2931503|GARD:0003670|MESH:C537473 MESH:C537473|UMLS:C2931503 http://purl.obolibrary.org/obo/MONDO_0023809 microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia|Milner Khallouf Gibson syndrome gard_rare UBERON:0007475 matrix-based tissue biolink:AnatomicalEntity mondo A tissue whose predominant feature is extracellular matrix which may or may not be highly hydrated or calcified. http://purl.obolibrary.org/obo/UBERON_0007475 HGNC:3383 STOM biolink:OntologyClass mondo http://identifiers.org/hgnc/3383 CL:0000980 plasmablast biolink:Cell mondo FMA:84371 An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. http://purl.obolibrary.org/obo/CL_0000980 CD27-positive, CD38-positive, CD20-negative B cell|CD20-negative B cell MONDO:0011830 lissencephaly due to LIS1 mutation biolink:Disease mondo Orphanet:95232|OMIM:607432|UMLS:CN228917|ICD10:Q04.3 Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. ORPHA:95232|UMLS:CN228917|http://identifiers.org/omim/607432 http://purl.obolibrary.org/obo/MONDO_0011830 lissencephaly 1; LIS1|LIS1|lissencephaly 1|lissencephaly type 1|subcortical band heterotopia|subcortical laminar heterotopia|PAFAH1B1-related lissencephaly|lissencephaly sequence, isolated|lissencephaly, classic ordo_disease CL:0000981 double negative memory B cell biolink:Cell mondo A memory B cell with the phenotype IgD-negative and CD27-negative. http://purl.obolibrary.org/obo/CL_0000981 double negative memory B-cell|double negative memory B lymphocyte|double negative memory B-lymphocyte|dn memory B cell|dn memory B-cell|dn memory B lymphocyte|dn memory B-lymphocyte HGNC:3381 EPB42 biolink:OntologyClass mondo http://identifiers.org/hgnc/3381 UBERON:0007473 lumen of epithelial sac biolink:AnatomicalEntity mondo The space within an epithelial sphere. http://purl.obolibrary.org/obo/UBERON_0007473 cavity of vesicle MONDO:0011832 autosomal dominant nonsyndromic deafness 44 biolink:Disease mondo UMLS:C1843895|DOID:0110569|OMIM:607453|ICD10:H90.3|MESH:C564399 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene. UMLS:C1843895|MESH:C564399|DOID:0110569|http://identifiers.org/omim/607453 http://purl.obolibrary.org/obo/MONDO_0011832 autosomal dominant nonsyndromic deafness type 44|deafness, autosomal dominant 44; DFNA44|deafness, autosomal dominant 44|autosomal dominant deafness 44|autosomal dominant nonsyndromic deafness caused by mutation in CCDC50|deafness, autosomal dominant type 44|DFNA44|CCDC50 autosomal dominant nonsyndromic deafness MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 biolink:Disease mondo OMIM:607450|ICD10:I42.8|DOID:0110076|UMLS:C1843896|MESH:C564400 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene. DOID:0110076|UMLS:C1843896|MESH:C564400|http://identifiers.org/omim/607450 http://purl.obolibrary.org/obo/MONDO_0011831 ARVC8|arrhythmogenic right ventricular cardiomyopathy 8|arrhythmogenic right ventricular dysplasia, familial, 8|arrhythmogenic right ventricular dysplasia type 8|ARVD8|DSP arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia, familial, 8; ARVD8|arrhythmogenic right ventricular dysplasia, familial, type 8|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP|familial arrhythmogenic right ventricular dysplasia 8 CHEBI:15022 electron donor biolink:ChemicalSubstance mondo A molecular entity that can transfer an electron to another molecular entity. http://purl.obolibrary.org/obo/CHEBI_15022 Elektronendonator|donneur d'electron|electron donor MONDO:0023807 obsolete midphalangeal hair biolink:Disease mondo OMIM:157200|MESH:C537471|GARD:0009992 MESH:C537471|http://identifiers.org/omim/157200 http://purl.obolibrary.org/obo/MONDO_0023807 Middigital hair|midphalangeal hair gard_rare|not_a_disease HGNC:3386 EPHA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3386 MONDO:0011819 spinocerebellar ataxia type 19/22 biolink:Disease mondo GARD:0012365|ICD10:G11.2|MESH:C542540|OMIM:607346|DOID:0050970|MESH:C537198|Orphanet:98772|SCTID:719251009 Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. UMLS:C1846367|SNOMEDCT:719251009|MESH:C537198|MESH:C542540|http://identifiers.org/omim/607346|ORPHA:98772|DOID:0050970 http://purl.obolibrary.org/obo/MONDO_0011819 spinocerebellar ataxia 19; SCA19|spinocerebellar ataxia 19|spinocerebellar ataxia 22|spinocerebellar ataxia type 19|SCA19|SCA19/22|spinocerebellar ataxia 19 and 22 ordo_disease MONDO:0011812 Duane-radial ray syndrome biolink:Disease mondo UMLS:CN206803|GARD:0009182|OMIM:607323|SCTID:699867001|ICD9:759.89|ICD10:Q87.8|DOID:0060747|Orphanet:959|Orphanet:93293|SCTID:720415006 A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant. http://identifiers.org/omim/607323|ORPHA:959|SNOMEDCT:699867001|DOID:0060747|UMLS:CN206803|SNOMEDCT:720415006|ORPHA:93293|UMLS:C1623209 http://purl.obolibrary.org/obo/MONDO_0011812 acrorenocular syndrome|Duane anomaly with radial ray abnormalities and deafness|DR syndrome|Duane-radial ray syndrome|Duane anomaly with radial abnormalities and deafness|Okihiro syndrome|acro-renal-ocular syndrome|DRRS gard_rare|ordo_malformation_syndrome MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome biolink:Disease mondo UMLS:C1846492|OMIM:607317|ICD10:G11.1|Orphanet:95434|MESH:C537310|GARD:0004952 Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. MESH:C537310|http://identifiers.org/omim/607317|ORPHA:95434|UMLS:C1846492 http://purl.obolibrary.org/obo/MONDO_0011811 spinocerebellar ataxia 24, formerly|spinocerebellar ataxia 24|spinocerebellar ataxia autosomal recessive 4|spinocerebellar ataxia, autosomal recessive 4|SCASI|spinocerebellar ataxia 24 (formerly)|spinocerebellar ataxia with saccadic Intrusions|spinocerebellar ataxia, autosomal recessive 4; SCAR4|SCAR4 ordo_disease GO:0040011 locomotion biolink:OntologyClass mondo Self-propelled movement of a cell or organism from one location to another. http://purl.obolibrary.org/obo/GO_0040011 MONDO:0011814 Smith-McCort dysplasia 1 biolink:Disease mondo UMLS:C3888088|OMIM:607326 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene. http://identifiers.org/omim/607326|UMLS:C3888088 http://purl.obolibrary.org/obo/MONDO_0011814 Smith-McCort dysplasia caused by mutation in DYM|SMC|Smc1|Smith-McCort dysplasia 1|Smith-McCort dysplasia type 1|SMITH-McCort dysplasia 1; Smc1|DYM Smith-McCort dysplasia GO:0040012 regulation of locomotion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/GO_0040012 GO:0040013 negative regulation of locomotion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/GO_0040013 downregulation of locomotion|down regulation of locomotion|inhibition of locomotion|down-regulation of locomotion MONDO:0011813 polydactyly, postaxial, type A3 biolink:Disease mondo OMIM:607324|MESH:C564590|UMLS:C1846452 http://identifiers.org/omim/607324|MESH:C564590|UMLS:C1846452 http://purl.obolibrary.org/obo/MONDO_0011813 polydactyly, postaxial, type A3; PAPA3|Papa3|polydactyly, postaxial, type A3|postaxial polydactyly, type A3 MONDO:0011816 lathosterolosis biolink:Disease mondo ICD10:Q87.8|SCTID:719257008|Orphanet:46059|UMLS:C1846421|MESH:C537880|GARD:0009711|OMIM:607330 Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. http://identifiers.org/omim/607330|MESH:C537880|SNOMEDCT:719257008|ORPHA:46059|UMLS:C1846421 http://purl.obolibrary.org/obo/MONDO_0011816 Sc5D deficiency|sterol C5-desaturase deficiency|lathosterolosis ordo_disease|gard_rare MONDO:0011815 hypertension, essential, susceptibility to, 3 biolink:Disease mondo UMLS:C1846430|OMIM:607329 http://identifiers.org/omim/607329|UMLS:C1846430 http://purl.obolibrary.org/obo/MONDO_0011815 hypertension, essential, susceptibility to, 3|hypertension, essential, susceptibility to, type 3|Hyt3 predisposition MONDO:0011818 isolated focal cortical dysplasia type II biolink:Disease mondo GARD:0010190|ICD10:Q04.8|OMIM:607341|Orphanet:268994|MESH:C537067 MESH:C537067|http://identifiers.org/omim/607341|ORPHA:268994 http://purl.obolibrary.org/obo/MONDO_0011818 focal cortical dysplasia of Taylor, type 2B|cortical dysplasia of Taylor with balloon cells|focal cortical dysplasia, type II; FCORD2|focal cortical dysplasia of Taylor, type 2A|focal cortical dysplasia, type 2|CDT|focal cortical dysplasia, type 2B|isolated focal cortical dysplasia type 2|focal cortical dysplasia of Taylor; FCDT|focal cortical dysplasia, type 2A|cortical dysplasia of Taylor, dysplasia only|FCORD2|cortical dysplasia of Taylor without balloon cells|Fcd2|FCD type II|focal cortical dysplasia type 2|FCDT|FCD 2B|cortical dysplasia, Taylor type|focal cortical dysplasia of Taylor|focal cortical dysplasia type II|FCD 2A|cortical dysplasia of Taylor gard_rare|ordo_clinical_subtype MONDO:0011817 coronary heart disease, susceptibility to, 1 biolink:Disease mondo OMIM:607339|UMLS:C1846418 Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene. UMLS:C1846418|http://identifiers.org/omim/607339 http://purl.obolibrary.org/obo/MONDO_0011817 coronary heart disease, susceptibility to, 1|CX3CR1 coronary artery disease|coronary artery disease caused by mutation in CX3CR1|coronary heart disease, susceptibility to, type 1|Chds1 predisposition GO:0040019 positive regulation of embryonic development biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of embryonic development. http://purl.obolibrary.org/obo/GO_0040019 up regulation of embryonic development|activation of embryonic development|stimulation of embryonic development|upregulation of embryonic development|up-regulation of embryonic development HGNC:3395 EPHB4 biolink:OntologyClass mondo http://identifiers.org/hgnc/3395 CL:0000990 conventional dendritic cell biolink:Cell mondo FMA:84191 Conventional dendritic cell is a dendritic cell that is CD11c-high. http://purl.obolibrary.org/obo/CL_0000990 dendritic reticular cell|interdigitating cell|veiled cell|type 1 DC|DC1|cDC HGNC:3393 EPHB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3393 MONDO:0011821 Meckel syndrome, type 3 biolink:Disease mondo UMLS:C1846357|ICD10:Q61.9|OMIM:607361|GARD:0008744|MESH:C536132|DOID:0070117 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. http://identifiers.org/omim/607361|MESH:C536132|DOID:0070117|UMLS:C1846357 http://purl.obolibrary.org/obo/MONDO_0011821 Meckel syndrome 3|Meckel syndrome type 3|Meckel syndrome caused by mutation in TMEM67|Meckel syndrome, type 3|MKS3|TMEM67 Meckel syndrome|Meckel-Gruber syndrome, type 3|Meckel syndrome, type 3; MKS3 gard_rare CL:0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000995 CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid GO:0040017 positive regulation of locomotion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/GO_0040017 up-regulation of locomotion|activation of locomotion|upregulation of locomotion|stimulation of locomotion|up regulation of locomotion MONDO:0011820 scoliosis, isolated, susceptibility to, 2 biolink:Disease mondo OMIM:607354 http://identifiers.org/omim/607354 http://purl.obolibrary.org/obo/MONDO_0011820 IS2|scoliosis, isolated, susceptibility to, 2; IS2|scoliosis, isolated, susceptibility to, 2 predisposition MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome biolink:Disease mondo OMIM:163955|GARD:0004006 Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure. http://identifiers.org/omim/163955 http://purl.obolibrary.org/obo/MONDO_0023873 NL/MGCLS gard_rare MONDO:0008239 phosphoglucomutase 4 biolink:Disease mondo OMIM:172110 http://identifiers.org/omim/172110 http://purl.obolibrary.org/obo/MONDO_0008239 phosphoglucomutase type 4|Pgm4|phosphoglucomutase 4|milk PGM NCBITaxon:5302 Agaricomycotina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5302 Hymenomycetes MONDO:0011889 Charcot-Marie-Tooth disease type 2I biolink:Disease mondo ICD10:G60.0|Orphanet:99942|SCTID:717013009|GARD:0009197|OMIM:607677|UMLS:CN207466|DOID:0110158 Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. ORPHA:99942|http://identifiers.org/omim/607677|DOID:0110158|UMLS:CN207466|SNOMEDCT:717013009 http://purl.obolibrary.org/obo/MONDO_0011889 Charcot-Marie-Tooth neuropathy, type 2I|Charcot Marie Tooth disease type 2I|CMT2I|CMT 2I|autosomal dominant Charcot-Marie-Tooth disease type 2I|Charcot-Marie-Tooth neuropathy type 2I|Charcot-Marie-Tooth disease, axonal, type 2I|Charcot-Marie-Tooth disease, axonal, type 2I; CMT2I ordo_disease|gard_rare MONDO:0021215 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021215 MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome biolink:Disease mondo Orphanet:2878|MESH:C537498|OMIM:171480|GARD:0004323|UMLS:C1868390|ICD10:Q87.2 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families. http://identifiers.org/omim/171480|ORPHA:2878|MESH:C537498|UMLS:C1868390 http://purl.obolibrary.org/obo/MONDO_0008237 phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia|Stoll-LC)vy-Francfort syndrome|Stoll-levy-Francfort syndrome|facioauriculoradial dysplasia|phocomelia ectrodactyly deafness sinus arrhythmia|Stoll-Lévy-Francfort syndrome ordo_malformation_syndrome MONDO:0011888 immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency biolink:Disease mondo OMIM:610799|MESH:C563662|ICD10:D84.8|MESH:C564352|OMIM:607676|Orphanet:70592|GARD:0010311|UMLS:C1843256|UMLS:C1835828 An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria. UMLS:C1835828|UMLS:C1843256|http://identifiers.org/omim/607676|MESH:C564352|http://identifiers.org/omim/610799|ORPHA:70592|MESH:C563662 http://purl.obolibrary.org/obo/MONDO_0011888 IRAK4D|IRAK-4 deficiency|Interleukin receptor-associated kinase deficiency|invasive pneumococcal disease, recurrent isolated, 1; IPD1|IRAK4 deficiency|invasive pneumococcal disease, recurrent isolated, type 1|invasive pneumococcal disease, protection against|IPD1|invasive pneumococcal disease, recurrent isolated, 1 ordo_disease MONDO:0008238 phosphatase, acid, of tissues biolink:Disease mondo OMIM:171660 http://identifiers.org/omim/171660 http://purl.obolibrary.org/obo/MONDO_0008238 Acp3--Alpha polypeptide|phosphatase, acid, of tissues|lysosomal acid phosphatase MONDO:0021214 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021214 MONDO:0008235 pheochromocytoma-islet cell tumor syndrome biolink:Disease mondo MESH:C566807|GARD:0004321|OMIM:171420|UMLS:C1868392 http://identifiers.org/omim/171420|UMLS:C1868392|MESH:C566807 http://purl.obolibrary.org/obo/MONDO_0008235 pheochromocytoma and islet cell tumor of the pancreas|pheochromocytoma--islet cell tumor syndrome|pheochromocytoma-islet cell tumor syndrome gard_rare MONDO:0021213 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021213 MONDO:0008236 phlebectasia of lips biolink:Disease mondo MESH:C566806|OMIM:171450|UMLS:C1868391 http://identifiers.org/omim/171450|UMLS:C1868391|MESH:C566806 http://purl.obolibrary.org/obo/MONDO_0008236 phlebectasia of lips MONDO:0021211 brain neoplasm biolink:Disease mondo COHD:373724|NCIT:C2907 A neoplasm (disease) that involves the brain. NCIT:C2907 http://purl.obolibrary.org/obo/MONDO_0021211 tumor of brain|neoplasm of the brain|brain neoplasms|neoplasm of brain|brain tumor|tumor of the Brain|brain neoplasm (disease) MONDO:0008233 phaeochromocytoma biolink:Disease mondo OMIM:171300|DOID:0050771|ONCOTREE:PHC http://identifiers.org/omim/171300|DOID:0050771 http://purl.obolibrary.org/obo/MONDO_0008233 pheochromocytoma|pheochromocytoma, susceptibility to MONDO:0021210 trachea neoplasm biolink:Disease mondo EFO:1001437|MESH:D014134|GTR:AN0481062|UMLS:C0040582|NCIT:C3419|GTR:AN0505660|HP:0100551 A neoplasm (disease) that involves the trachea. NCIT:C3419|MESH:D014134|UMLS:C0040582 http://purl.obolibrary.org/obo/MONDO_0021210 neoplasm of the trachea|tumor of trachea|tracheal neoplasm|neoplasm of trachea|tumor of the trachea|trachea neoplasm (disease)|trachea tumor|tracheal neoplasm|tracheal tumor MONDO:0008234 multiple endocrine neoplasia type 2A biolink:Disease mondo ICD10:E31.22|DOID:0050430|UMLS:C0025268|GARD:0004881|MESH:D018813|NCIT:C3226|ICD9:258.02|SCTID:721188000|ICD10:D44.8|Orphanet:247698|OMIM:171400 Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells. SNOMEDCT:721188000|ORPHA:247698|MESH:D018813|NCIT:C3226|http://identifiers.org/omim/171400|UMLS:C0025268|DOID:0050430 http://purl.obolibrary.org/obo/MONDO_0008234 MEN2A|multiple endocrine neoplasia, type II|ptc syndrome|multiple endocrine adenomatosis, type II|multiple endocrine adenomatosis type II|thyroid carcinoma, familial medullary|men-2A syndrome|multiple endocrine adenomatosis type 2A|multiple endocrine adenomatosis type 2a|MEN2A|multiple endocrine neoplasia type II|multiple endocrine neoplasia type 2A|Sipple syndrome|MEA type II|multiple endocrine neoplasia II|MEA type 2a|pheochromocytoma and amyloid-producing medullary thyroid carcinoma|pheochromocytoma and amyloid producing medullary thyroid carcinoma|multiple endocrine neoplasia, type IIA; MEN2A|men type II|multiple endocrine neoplasia, type 2A|men type 2a|multiple endocrine neoplasia, type IIA|men 2A ordo_clinical_subtype|gard_rare MONDO:0008231 Peyronie disease biolink:Disease mondo ICD10:N48.6|ICD9:607.85|UMLS:C0030848|DOID:8616|COHD:196157|OMIM:171000 A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both. DOID:8616|http://identifiers.org/omim/171000|UMLS:C0030848 http://purl.obolibrary.org/obo/MONDO_0008231 Induratio penis plastica|Peyronie's disease|Peyronie's fibromatosis|Peyronie disease MONDO:0008232 phagocytosis, plasma-related defect 1N biolink:Disease mondo UMLS:C1868402|MESH:C566808|OMIM:171100 http://identifiers.org/omim/171100|UMLS:C1868402|MESH:C566808 http://purl.obolibrary.org/obo/MONDO_0008232 phagocytosis, plasma-RELATED defect IN|phagocytosis, plasma-related defect type 1N GO:0040020 regulation of meiotic nuclear division biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes. http://purl.obolibrary.org/obo/GO_0040020 regulation of meiosis MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 biolink:Disease mondo OMIM:607682 Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene. http://identifiers.org/omim/607682 http://purl.obolibrary.org/obo/MONDO_0011892 EIG9|epilepsy, idiopathic generalized, susceptibility to, type 9|susceptibility to idiopathic generalized epilepsy 9|epilepsy, idiopathic generalized, susceptibility to, 9; EIG9|CACNB4 generalised epilepsy|epilepsy, juvenile myoclonic, susceptibility to, 6|epilepsy, idiopathic generalized, susceptibility to, 9|generalised epilepsy caused by mutation in CACNB4 predisposition MONDO:0011891 febrile seizures, familial, 8 biolink:Disease mondo UMLS:C1843244|OMIM:611277|UMLS:C1858674|OMIM:607681|MESH:C565811 A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. UMLS:C1858674|http://identifiers.org/omim/611277|UMLS:C1843244|http://identifiers.org/omim/607681|MESH:C565811 http://purl.obolibrary.org/obo/MONDO_0011891 GEFSP3|childhood absence epilepsy caused by mutation in GABRG2|GABRG2 childhood absence epilepsy|susceptibility to childhood absence epilepsy 2|generalized epilepsy with febrile seizures plus caused by mutation in GABRG2|GABRG2 generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus, type 3; GEFSP3|epilepsy, childhood absence, susceptibility to, 2; ECA2|Gefs+, type 3|ECA2|generalized epilepsy with febrile seizures plus, type 3|epilepsy, childhood absence, susceptibility to, 2|epilepsy, childhood absence, susceptibility to, type 2 predisposition MONDO:0008230 peroxidase, salivary biolink:Disease mondo OMIM:170990 http://identifiers.org/omim/170990 http://purl.obolibrary.org/obo/MONDO_0008230 SAPX|peroxidase, salivary|peroxidase, salivary; SAPX MONDO:0011894 Charcot-Marie-Tooth disease type 2E biolink:Disease mondo Orphanet:99939|OMIM:607684|SCTID:717012004|GARD:0009193|MESH:C537994|NCIT:C134953|ICD10:G60.0|DOID:0110165 Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. NCIT:C134953|ORPHA:99939|http://identifiers.org/omim/607684|MESH:C537994|DOID:0110165|SNOMEDCT:717012004 http://purl.obolibrary.org/obo/MONDO_0011894 CMT 2E|Charcot Marie Tooth disease type 2E|Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL|Charcot-Marie-Tooth disease, axonal, type 2E; CMT2E|Charcot-Marie-Tooth disease, axonal, type 2E|Charcot-Marie-Tooth neuropathy type 2E|CMT2E|autosomal dominant Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth neuropathy, type 2E|NEFL Charcot-Marie-Tooth disease type 2 gard_rare|ordo_disease MONDO:0021209 heart neoplasm biolink:Disease mondo NCIT:C3081|GARD:0002619|EFO:1001339 A neoplasm (disease) that involves the heart. NCIT:C3081 http://purl.obolibrary.org/obo/MONDO_0021209 primary cardiac tumors, childhood|heart neoplasm (disease)|Cardiac neoplasms|neoplasm of the heart|tumor of heart|myocardial tumors (rhabdomyomas and fibromas)|neoplasm of heart|tumor of the heart|heart tumor|Intracavitary tumors|Cardiac neoplasm|Cardiac tumor gard_rare MONDO:0011893 autosomal dominant nonsyndromic deafness 52 biolink:Disease mondo MESH:C564348|ICD10:H90.3|DOID:0110578|UMLS:C1843232|OMIM:607683 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32. UMLS:C1843232|http://identifiers.org/omim/607683|MESH:C564348|DOID:0110578 http://purl.obolibrary.org/obo/MONDO_0011893 autosomal dominant nonsyndromic deafness type 52|deafness, autosomal dominant 52|autosomal dominant deafness 52|deafness, autosomal dominant 52; DFNA52|DFNA52|deafness, autosomal dominant 42 MONDO:0021208 endocrine alopecia biolink:Disease mondo SCTID:54539003|ICD9:704.09|UMLS:C0002176 SNOMEDCT:54539003|UMLS:C0002176 http://purl.obolibrary.org/obo/MONDO_0021208 MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to biolink:Disease mondo MESH:C564345|OMIM:607688|UMLS:C1843211 Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene. UMLS:C1843211|http://identifiers.org/omim/607688|MESH:C564345 http://purl.obolibrary.org/obo/MONDO_0011896 Parkinson disease 11, autosomal dominant, susceptibility to; PARK11|Parkinson disease 11, autosomal dominant, susceptibility to|PARK11|GIGYF2 hereditary late onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 11|hereditary late onset Parkinson disease caused by mutation in GIGYF2 predisposition MONDO:0011895 idiopathic hypereosinophilic syndrome biolink:Disease mondo ICD10:D47.5|OMIM:607685|SCTID:423294001|Orphanet:3260|UMLS:C0206141 SNOMEDCT:423294001|UMLS:C0206141|http://identifiers.org/omim/607685|ORPHA:3260 http://purl.obolibrary.org/obo/MONDO_0011895 hypereosinophilic syndrome, idiopathic; HES|hypereosinophilic syndrome, idiopathic|HES ordo_disease MONDO:0021207 Crohn jejunitis biolink:Disease mondo SCTID:91390005|UMLS:C0267379 An Crohn disease involving a pathogenic inflammatory response in the jejunum. SNOMEDCT:91390005|UMLS:C0267379 http://purl.obolibrary.org/obo/MONDO_0021207 MONDO:0021206 chronic non-suppurative otitis media biolink:Disease mondo SCTID:232254004|COHD:376425|ICD9:381.3|UMLS:C0395869 Chronic form of non-suppurative otitis media. UMLS:C0395869|SNOMEDCT:232254004 http://purl.obolibrary.org/obo/MONDO_0021206 non-suppurative otitis media, chronic CL:0000961 Bm1 B cell biolink:Cell mondo A follicular B cell that is IgD-positive, CD23-negative, and CD38-negative. This naive cell type is activated in the extrafollicular areas through interaction with interdigitating dendritic cells and antigen-specific CD4-positive T cells. http://purl.obolibrary.org/obo/CL_0000961 Bm1 B-lymphocyte|Bm1 B-cell|Bm1 B lymphocyte MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive biolink:Disease mondo OMIM:607706|UMLS:C1843183 UMLS:C1843183|http://identifiers.org/omim/607706 http://purl.obolibrary.org/obo/MONDO_0011898 Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive|CMT2 with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome biolink:Disease mondo ICD10:E75.2|SCTID:721846006|DOID:0060794|Orphanet:137639|OMIM:607694|ICD10:G11.1 Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described. ORPHA:137639|SNOMEDCT:721846006|http://identifiers.org/omim/607694|DOID:0060794 http://purl.obolibrary.org/obo/MONDO_0011897 hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome|leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|HLD7|ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy|leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; HLD7|leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|ataxia, delayed dentition, and hypomyelination|hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome|4H syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|tach syndrome|hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism|ataxia-delayed dentition-hypomyelination syndrome|dentoleukoencephalopathy|tremor-ataxia-central hypomyelination syndrome|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|leukodystrophy with oligodontia ordo_disease CL:0000962 Bm2 B cell biolink:Cell mondo A follicular B cell that is IgD-positive and CD23-positive and CD38-positive. This naive cell type is activated in the extrafollicular areas via interaction with dendritic cells and antigen specific T cells. http://purl.obolibrary.org/obo/CL_0000962 Bm2 B-cell|Bm2 B lymphocyte|Bm2 B-lymphocyte MONDO:0021205 disease of ear biolink:Disease mondo UMLS:C0013447|SCTID:25906001|NCIT:C26757|COHD:378161|ICD9:388.9|ICD9:388.8 A disease that involves the ear. NCIT:C26757|SNOMEDCT:25906001|UMLS:C0013447 http://purl.obolibrary.org/obo/MONDO_0021205 Ear disease|ear disease|disorder of ear|disease or disorder of ear|Ear disorder|disease of ear|ear disease or disorder|disorder of ear MONDO:0023868 melanoma associated retinopathy biolink:Disease mondo UMLS:C0730308|GARD:0012041|SCTID:312941005 Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision. UMLS:C0730308|SNOMEDCT:312941005 http://purl.obolibrary.org/obo/MONDO_0023868 Melanoma-associated retinopathy|Melanoma-Associated Retinopathies|Retinopathies, Melanoma-Associated|Retinopathy, Melanoma-Associated|Melanoma Associated Retinopathy|Melanoma associated retinopathy|Melanoma-Associated Retinopathy gard_rare MONDO:0011890 Charcot-Marie-Tooth disease type 1D biolink:Disease mondo ICD10:G60.0|MESH:C537985|DOID:0110150|UMLS:C1843247|SCTID:719979008|OMIM:607678|GARD:0009189|Orphanet:101084 A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. UMLS:C1843247|http://identifiers.org/omim/607678|MESH:C537985|DOID:0110150|SNOMEDCT:719979008|ORPHA:101084 http://purl.obolibrary.org/obo/MONDO_0011890 Charcot-Marie-Tooth neuropathy type 1D|Charcot-Marie-Tooth disease, demyelinating, type 1D|Charcot-Marie-Tooth neuropathy, type 1D|EGR2 Charcot-Marie-Tooth disease type 1|hereditary motor and sensory neuropathy 1D|HMSN 1D|CMT1D|Charcot Marie Tooth disease type 1D|CMT 1D|Charcot-Marie-Tooth disease, demyelinating, type 1D; CMT1D|HMSN1D|Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2|HMSN1D|HMSN ID ordo_disease|gard_rare MONDO:0023865 corneal infection biolink:Disease mondo NCIT:C83813|UMLS:C0729777|SCTID:312428002 A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering. NCIT:C83813|SNOMEDCT:312428002|UMLS:C0729777 http://purl.obolibrary.org/obo/MONDO_0023865 infective keratitis|infection of cornea|keratitis caused by infection|corneal infection ordo_group_of_disorders MONDO:0011878 Worth syndrome biolink:Disease mondo SCTID:254131007|GARD:0009488|OMIM:607636|DOID:0080037 A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate. SNOMEDCT:254131007|DOID:0080037|http://identifiers.org/omim/607636 http://purl.obolibrary.org/obo/MONDO_0011878 Worth syndrome|VBCH2|osteosclerosis of the skull and enlarged mandible|Worth's syndrome|autosomal dominant osteosclerosis|Van Buchem disease type 2|Van Buchem disease, type 2|autosomal dominant endosteal hyperostosis|benign form of Worth hyperostosis corticalis generalisata with torus platinus MONDO:0008248 pigmented purpuric eruption biolink:Disease mondo UMLS:C0406515|SCTID:20343006|MESH:C537186|GARD:0007609|OMIM:172900 SNOMEDCT:20343006|MESH:C537186|UMLS:C0406515|http://identifiers.org/omim/172900 http://purl.obolibrary.org/obo/MONDO_0008248 Schamberg disease|progressive pigmented purpura|pigmented purpuric eruption|pigmented purpuric dermatosis|Schamberg purpura|familial pigmented purpuric eruption|pigmented purpura MONDO:0021204 chronic otitis media biolink:Disease mondo UMLS:C0271441|ICD9:381.3|SCTID:21186006 Chronic form of otitis media (disease). SNOMEDCT:21186006|UMLS:C0271441 http://purl.obolibrary.org/obo/MONDO_0021204 otitis media (disease), chronic|chronic otitis media (disease) MONDO:0011877 autosomal dominant osteopetrosis 1 biolink:Disease mondo UMLS:C1843330|Orphanet:2783|OMIM:607634|MESH:C536056|DOID:0110937|ICD10:Q78.2|GARD:0004151 Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. ORPHA:2783|MESH:C536056|UMLS:C1843330|http://identifiers.org/omim/607634|UMLS:C2931097|DOID:0110937 http://purl.obolibrary.org/obo/MONDO_0011877 osteopetrosis, autosomal dominant 1|autosomal dominant osteopetrosis type 1|osteopetrosis, autosomal dominant 1; OPTA1|osteopetrosis autosomal dominant type 1|osteopetrosis (disease) caused by mutation in LRP5|osteopetrosis, autosomal dominant type 1|LRP5 osteopetrosis (disease)|osteopetrosis, autosomal dominant, type 1|OPTA1 ordo_malformation_syndrome MONDO:0021203 serous otitis media biolink:Disease mondo SCTID:80327007 SNOMEDCT:80327007 http://purl.obolibrary.org/obo/MONDO_0021203 otitis media with effusion|secretory otitis media|SOM MONDO:0008249 pilonidal sinus (disease) biolink:Disease mondo MESH:D010864|OMIM:173000|SCTID:47639008|HP:0010769 A hair-containing cyst or sinus, occurring chiefly in the coccygeal region. MESH:D010864|http://identifiers.org/omim/173000|SNOMEDCT:47639008 http://purl.obolibrary.org/obo/MONDO_0008249 pilonidal sinus MONDO:0008246 pigmented paravenous retinochoroidal atrophy biolink:Disease mondo SCTID:723450004|OMIM:172870|MESH:C566801|UMLS:C1868310|Orphanet:251295|ICD10:H35.5 Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. ORPHA:251295|SNOMEDCT:723450004|http://identifiers.org/omim/172870|UMLS:C1868310|MESH:C566801 http://purl.obolibrary.org/obo/MONDO_0008246 PPRCA|pigmented paravenous chorioretinal atrophy; PPCRA|pigmented paravenous chorioretinal atrophy|PPCRA ordo_disease MONDO:0021202 allergic otitis media biolink:Disease mondo SCTID:26169004|UMLS:C0271447 A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction. UMLS:C0271447|SNOMEDCT:26169004 http://purl.obolibrary.org/obo/MONDO_0021202 allergic form of otitis media (disease)|allergic otitis media (disease) GO:0042697 menopause biolink:OntologyClass mondo Cessation of menstruation, occurring in (e.g.) the human female usually around the age of 50. http://purl.obolibrary.org/obo/GO_0042697 MONDO:0021201 skin infection biolink:Disease mondo UMLS:C0037278|NCIT:C35025|SCTID:19824006 An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. NCIT:C35025|UMLS:C0037278|SNOMEDCT:19824006 http://purl.obolibrary.org/obo/MONDO_0021201 skin infection MONDO:0008247 robin sequence-oligodactyly syndrome biolink:Disease mondo OMIM:172880|GARD:0004729|UMLS:C1868309|ICD10:Q87.0|MESH:C535688|Orphanet:3104 Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. MESH:C535688|ORPHA:3104|http://identifiers.org/omim/172880|UMLS:C1868309 http://purl.obolibrary.org/obo/MONDO_0008247 Pierre Robin sequence-oligodactyly syndrome|Robin sequence and oligodactyly|Pierre Robin syndrome and oligodactyly ordo_malformation_syndrome MONDO:0011879 neuronopathy, distal hereditary motor, type 7B biolink:Disease mondo OMIM:607641|UMLS:C1843315|MESH:C564362 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene. UMLS:C1843315|http://identifiers.org/omim/607641|MESH:C564362 http://purl.obolibrary.org/obo/MONDO_0011879 neuronopathy, distal hereditary motor, type VIIB|DCTN1 neuronopathy, distal hereditary motor|HMN7B|HMN 7B|neuronopathy, distal hereditary motor caused by mutation in DCTN1|neuronopathy, distal hereditary motor, type VIIB; HMN7B|Dhmn7B|Lower motor neuron disease, dynactin type|neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B|neuropathy, distal hereditary motor, type 7B MONDO:0008244 piebaldism biolink:Disease mondo GARD:0004344|Orphanet:2884|DOID:3263|ICD10:E70.39|UMLS:C0080024|SCTID:6479008|MESH:D016116|OMIM:172800|ICD9:270.2|ICD10:E70.3|NCIT:C85009 Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. UMLS:C0080024|MESH:D016116|http://identifiers.org/omim/172800|ORPHA:2884|SNOMEDCT:6479008|DOID:3263|NCIT:C85009 http://purl.obolibrary.org/obo/MONDO_0008244 partial albinism|PBT|piebald trait|piebald trait; PBT|piebaldism gard_rare|ordo_disease MONDO:0021200 obsolete rare disease biolink:Disease mondo NCIT:C4873|MESH:D035583 Any of the forms of disease that have a rare incidence. NCIT:C4873|MESH:D035583 http://purl.obolibrary.org/obo/MONDO_0021200 rare disorder|rare disease|rare disease or disorder|rare diseases obsoletion_candidate CL:0000979 IgG memory B cell biolink:Cell mondo An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface. http://purl.obolibrary.org/obo/CL_0000979 memory IgG B cell|IgG memory B-cell|IgG memory B lymphocyte|memory IgG B-cell|memory IgG B lymphocyte|IgG memory B-lymphocyte|memory IgG B-lymphocyte MONDO:0008245 piebald trait-neurologic defects syndrome biolink:Disease mondo UMLS:C1868311|GARD:0005133|MESH:C536955|Orphanet:2885|OMIM:172850 Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. http://identifiers.org/omim/172850|ORPHA:2885|UMLS:C1868311|MESH:C536955 http://purl.obolibrary.org/obo/MONDO_0008245 telfer-Sugar-Jaeger syndrome|telfer Sugar Jaeger syndrome|piebald trait neurologic defects|White forelock and leukoderma with neurological impairment|piebald trait with neurologic defects ordo_malformation_syndrome MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction biolink:Disease mondo ICD9:583.9|MESH:C538113|GARD:0009267|UMLS:C1809475|SCTID:237612000|OMIM:172500 SNOMEDCT:237612000|MESH:C538113|http://identifiers.org/omim/172500|UMLS:C1809475 http://purl.obolibrary.org/obo/MONDO_0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction|Herrmann syndrome|hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction GO:0042692 muscle cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. http://purl.obolibrary.org/obo/GO_0042692 myogenesis MONDO:0008243 Pick disease biolink:Disease mondo ICD9:331.11|EFO:0003096|UMLS:C0236642|DOID:11870|OMIM:172700|NCIT:C85008|ICD10:G31.01|GARD:0007392|MESH:D020774|SCTID:13092008 A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies. DOID:11870|MESH:D020774|http://identifiers.org/omim/172700|SNOMEDCT:13092008|UMLS:C0236642|NCIT:C85008 http://purl.obolibrary.org/obo/MONDO_0008243 Pick's disease|Pick disease of the brain|PICK disease of brain|lobar atrophy of the brain|dementia with lobar atrophy and neuronal cytoplasmic inclusions|Pick disease|lobar atrophy of brain|dementia in Pick's disease MONDO:0011881 keratosis palmoplantaris striata 3 biolink:Disease mondo GARD:0009173|UMLS:C2931123|OMIM:607654|MESH:C536163 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene. MESH:C536163|http://identifiers.org/omim/607654|UMLS:C2931123 http://purl.obolibrary.org/obo/MONDO_0011881 keratosis palmoplantaris striata III; PPKS3|keratoderma, palmoplantar, striate form 3|KRT1 striate palmoplantar keratoderma|keratosis palmoplantaris striata type 3|PPKS3|striate palmoplantar keratoderma caused by mutation in KRT1|keratoderma palmoplantar striate form 3|striate palmoplantar keratoderma 3|keratosis palmoplantaris striata III gard_rare MONDO:0008240 6-phosphogluconolactonase deficiency biolink:Disease mondo MESH:C566803|OMIM:172150|UMLS:C1868355 http://identifiers.org/omim/172150|UMLS:C1868355|MESH:C566803 http://purl.obolibrary.org/obo/MONDO_0008240 Pgls deficiency|6Pgl deficiency|6-phosphogluconolactonase deficiency MONDO:0008241 phosphoglycoprotein 1 biolink:Disease mondo OMIM:172290 http://identifiers.org/omim/172290 http://purl.obolibrary.org/obo/MONDO_0008241 phosphoglycoprotein 1|phosphoglycoprotein 1; PGP1|PGP1|phosphoglycoprotein type 1 MONDO:0011880 CANDF3 biolink:Disease mondo UMLS:C1843306|OMIM:607644|MESH:C564361 UMLS:C1843306|http://identifiers.org/omim/607644|MESH:C564361 http://purl.obolibrary.org/obo/MONDO_0011880 Fcnc|candidiasis, familial, 3|CANDF3|candidiasis, familial chronic nail, with Icam1 deficiency|candidiasis, familial, 3; CANDF3 MONDO:0011883 Curly hair - acral keratoderma - caries syndrome biolink:Disease mondo OMIM:607656|ICD10:Q82.8|GARD:0010163|MESH:C536220|Orphanet:307766 Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. ORPHA:307766|MESH:C536220|UMLS:C1843291|http://identifiers.org/omim/607656 http://purl.obolibrary.org/obo/MONDO_0011883 CHACS|Chac syndrome|Curly hair - acral keratoderma - caries syndrome|Chacs gard_rare|ordo_disease MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome biolink:Disease mondo ICD10:Q82.8|MESH:C564359|UMLS:C1843292|OMIM:607655|Orphanet:293165|GARD:0005231 UMLS:C1843292|http://identifiers.org/omim/607655|MESH:C564359|ORPHA:293165 http://purl.obolibrary.org/obo/MONDO_0011882 skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome|SFWHS|skin fragility-woolly hair syndrome; SFWHS|skin fragility-woolly hair syndrome|skin fragility woolly hair syndrome ordo_disease|gard_rare MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome biolink:Disease mondo UMLS:C1843273|Orphanet:91500|MedDRA:10069039|NCIT:C123021|MedDRA:10069034|OMIM:607665|ICD10:N10|GARD:0009252 An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. ORPHA:91500|UMLS:C1843273|http://identifiers.org/omim/607665|MESH:C536922|MEDDRA:10069034|MEDDRA:10069039|UMLS:C1639520|UMLS:C2609298|NCIT:C123021 http://purl.obolibrary.org/obo/MONDO_0011885 Tubulointerstitial nephritis and uveitis|acute Tubulointerstitial nephritis|acute tubulointerstitial nephritis and uveitis syndrome|TUBULOINTERSTITIAL nephritis with uveitis; TINU|TINU|TINU syndrome|TUBULOINTERSTITIAL nephritis with uveitis|Dobrin syndrome ordo_disease CL:0000970 unswitched memory B cell biolink:Cell mondo An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative. http://purl.obolibrary.org/obo/CL_0000970 unswitched memory B-cell|unswitched memory B lymphocyte|non-class-switched memory B cell|unswitched memory B-lymphocyte|IgD+ memory B cell MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome biolink:Disease mondo OMIM:607658|MESH:C564357|SCTID:763658004|Orphanet:307936|UMLS:C1843285|ICD10:Q82.8 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. ORPHA:307936|UMLS:C1843285|http://identifiers.org/omim/607658|MESH:C564357|SNOMEDCT:763658004 http://purl.obolibrary.org/obo/MONDO_0011884 hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome|Hopp syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome|hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome|HOPP syndrome ordo_disease CL:0000971 IgM memory B cell biolink:Cell mondo An IgM memory B cell is an unswitched memory B cell with the phenotype IgM-positive and IgD-negative. http://purl.obolibrary.org/obo/CL_0000971 memory IgM B cell|memory IgM B-cell|memory IgM B lymphocyte|IgM memory B-cell|IgM memory B lymphocyte|memory IgM B-lymphocyte|IgM memory B-lymphocyte MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy biolink:Disease mondo OMIM:607674|UMLS:C1843257|MESH:C564353 UMLS:C1843257|http://identifiers.org/omim/607674|MESH:C564353 http://purl.obolibrary.org/obo/MONDO_0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy CL:0000972 class switched memory B cell biolink:Cell mondo A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface. http://purl.obolibrary.org/obo/CL_0000972 class switched memory B-lymphocyte|class switched memory B-cell|class switched memory B lymphocyte MONDO:0011886 torsion dystonia 13 biolink:Disease mondo DOID:0090037|SCTID:719278006|MESH:C564354|OMIM:607671|ICD10:G24.1|Orphanet:98807 DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement. SNOMEDCT:719278006|ORPHA:98807|http://identifiers.org/omim/607671|DOID:0090037|MESH:C564354 http://purl.obolibrary.org/obo/MONDO_0011886 dystonia 13, torsion, autosomal dominant|dystonia 13, torsion, autosomal dominant; DYT13|primary dystonia with mixed phenotype|torsion dystonia type 13|DYT13|primary torsion dystonia with predominant craniocervical or upper limb onset|primary dystonia, DYT13 type ordo_disease CL:0000973 IgA memory B cell biolink:Cell mondo A class switched memory B cell that expresses IgA. http://purl.obolibrary.org/obo/CL_0000973 IgA memory B-cell|IgA memory B lymphocyte|memory IgA B cell|IgA memory B-lymphocyte|memory IgA B-cell|memory IgA B lymphocyte|memory IgA B-lymphocyte MONDO:0008219 pemphigus vulgaris biolink:Disease mondo GARD:0004270|DOID:0060851|OMIM:169610|MedDRA:10052802|ICD10:L10.0|Orphanet:704|EFO:0004719|UMLS:C0030809|SCTID:49420001|NCIT:C34910|GARD:0007355 Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%). SNOMEDCT:49420001|UMLS:C0030809|MEDDRA:10052802|NCIT:C34910|ORPHA:704|DOID:0060851|http://identifiers.org/omim/169610 http://purl.obolibrary.org/obo/MONDO_0008219 pemphigus vulgaris, familial|familial pemphigus vulgaris ordo_disease|gard_rare MONDO:0008217 pelvis-shoulder dysplasia biolink:Disease mondo ICD10:Q87.5|SCTID:719298001|UMLS:C1868508|Orphanet:2839|OMIM:169550|MESH:C566811 Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. ORPHA:2839|UMLS:C1868508|MESH:C566811|SNOMEDCT:719298001|http://identifiers.org/omim/169550 http://purl.obolibrary.org/obo/MONDO_0008217 Scapuloiliac dysostosis|Kosenow syndrome|pelvis-shoulder dysplasia ordo_malformation_syndrome MONDO:0008218 Hailey-Hailey disease biolink:Disease mondo MESH:D016506|OMIM:169600|GARD:0006559|SCTID:79468000|ICD10:Q82.8|UMLS:C0085106|NCIT:C82865|Orphanet:2841|DOID:0050429 Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva). NCIT:C82865|ORPHA:2841|SNOMEDCT:79468000|DOID:0050429|MESH:D016506|http://identifiers.org/omim/169600|UMLS:C0085106 http://purl.obolibrary.org/obo/MONDO_0008218 benign chronic familial pemphigus of Hailey-Hailey|familial benign chronic pemphigus|benign familial pemphigus|benign chronic pemphigus; BCPM|benign chronic pemphigus|familial benign pemphigus|BCPM|Hailey-Hailey disease|pemphigus, benign familial ordo_disease|gard_rare MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy biolink:Disease mondo GARD:0010587|DOID:0060785|ICD10:E75.2|OMIM:169500|SCTID:448054001|MESH:C566813|Orphanet:99027 Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment. UMLS:C3164344|MESH:C566813|DOID:0060785|http://identifiers.org/omim/169500|SNOMEDCT:448054001|ORPHA:99027 http://purl.obolibrary.org/obo/MONDO_0008215 Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly|leukodystrophy, demyelinating, ADULT-onset, autosomal dominant|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type|ADLD|autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease|autosomal dominant adult-onset demyelinating leukodystrophy|multiple sclerosis-like disorder|adult-onset autosomal dominant leukodystrophy|adult-onset autosomal dominant demyelinating leukodystrophy|autosomal dominant leukodystrophy with autonomic disease|leukodystrophy, demyelinating, ADULT-onset, autosomal dominant; ADLD ordo_disease MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies biolink:Disease mondo MESH:C564370|OMIM:607597|UMLS:C1843492 http://identifiers.org/omim/607597|UMLS:C1843492|MESH:C564370 http://purl.obolibrary.org/obo/MONDO_0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies CL:0000941 thymic conventional dendritic cell biolink:Cell mondo A dendritic cell arising in thymus that has the phenotype CD11c-positive, CD11b-negative, and CD45RA-negative. http://purl.obolibrary.org/obo/CL_0000941 MONDO:0011866 pontocerebellar hypoplasia type 1A biolink:Disease mondo OMIM:607596|DOID:0060265 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene. http://identifiers.org/omim/607596|DOID:0060265 http://purl.obolibrary.org/obo/MONDO_0011866 pontocerebellar hypoplasia, type 1A|non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1|PCH1A|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia, type 1A; PCH1A|pontocerebellar hypoplasia with anterior horn cell disease|VRK1 non-syndromic pontocerebellar hypoplasia|Pch1 MONDO:0008216 pelvic lipomatosis with crossed renal ectopia biolink:Disease mondo UMLS:C1868511|OMIM:169545|MESH:C566812 MESH:C566812|UMLS:C1868511|http://identifiers.org/omim/169545 http://purl.obolibrary.org/obo/MONDO_0008216 pelvic lipomatosis with crossed renal ectopia MONDO:0008213 pectus excavatum (disease) biolink:Disease mondo OMIM:169300|HP:0000767|ICD9:754.81|MESH:D005660|SCTID:391987005|COHD:141955 A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. SNOMEDCT:391987005|MESH:D005660|http://identifiers.org/omim/169300 http://purl.obolibrary.org/obo/MONDO_0008213 pectus excavatum|funnel chest MONDO:0011869 epidermolysis bullosa simplex superficialis biolink:Disease mondo ICD10:Q81.0|UMLS:C1843477|MESH:C564368|Orphanet:89839|OMIM:607600 Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters. ORPHA:89839|UMLS:C1843477|http://identifiers.org/omim/607600|MESH:C564368 http://purl.obolibrary.org/obo/MONDO_0011869 EBSS|epidermolysis bullosa simplex superficialis; EBSS|epidermolysis bullosa simplex superficialis ordo_disease MONDO:0008214 Pelger-Huet anomaly biolink:Disease mondo OMIM:169400|NCIT:C85002|SCTID:85559002|EFO:1001093|GARD:0009148|DOID:9631|UMLS:C0030779|MESH:D010381|MedDRA:10029377 An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. SNOMEDCT:85559002|UMLS:C0030779|NCIT:C85002|MESH:D010381|DOID:9631|http://identifiers.org/omim/169400 http://purl.obolibrary.org/obo/MONDO_0008214 Pelger Huet anomaly|Pelger-Huet anomaly; PHA|ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities|Pelger-Huet nuclear anomaly|Pelger-Huet anomaly|PHA MONDO:0011868 lethal congenital contracture syndrome 2 biolink:Disease mondo OMIM:607598|DOID:0060560|UMLS:C1843478|UMLS:C4275145|GARD:0009177|MESH:C564369|SCTID:715419004|Orphanet:137776|ICD10:Q68.8 Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. DOID:0060560|UMLS:C4275145|ORPHA:137776|http://identifiers.org/omim/607598|UMLS:C1843478|SNOMEDCT:715419004|MESH:C564369 http://purl.obolibrary.org/obo/MONDO_0011868 LCCS2|multiple contracture syndrome, Israeli-Bedouin type|multiple contracture syndrome, Israeli Bedouin type|ERBB3 lethal congenital contracture syndrome|multiple contracture syndrome, Israeli Bedouin type a|lethal congenital contracture syndrome 2; LCCS2|lethal congenital contracture syndrome type 2|lethal congenital contracture syndrome 2|lethal congenital contracture syndrome caused by mutation in ERBB3 ordo_malformation_syndrome|gard_rare RO:0002630 directly negatively regulates biolink:OntologyClass mondo Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2. http://purl.obolibrary.org/obo/RO_0002630 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type biolink:Disease mondo MESH:C536310|ICD10:E34.8|UMLS:C1868546|OMIM:169170|GARD:0004259|Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. MESH:C536310|UMLS:C1868546|http://identifiers.org/omim/169170|ORPHA:2976 http://purl.obolibrary.org/obo/MONDO_0008211 Patterson's leprechaunoid syndrome|Patterson syndrome|Patterson pseudoleprechaunism syndrome ordo_malformation_syndrome CL:0000945 lymphocyte of B lineage biolink:Cell mondo A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. http://purl.obolibrary.org/obo/CL_0000945 MONDO:0008212 Pechet factor deficiency biolink:Disease mondo OMIM:169200|MESH:C566814|UMLS:C1868545 MESH:C566814|UMLS:C1868545|http://identifiers.org/omim/169200 http://purl.obolibrary.org/obo/MONDO_0008212 Pechet factor deficiency|Dynia factor deficiency CL:0000946 antibody secreting cell biolink:Cell mondo A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. http://purl.obolibrary.org/obo/CL_0000946 MONDO:0008210 patterned macular dystrophy 1 biolink:Disease mondo DOID:0060866|OMIM:169150 Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. DOID:0060866|http://identifiers.org/omim/169150 http://purl.obolibrary.org/obo/MONDO_0008210 macular dystrophy, patterned, 1|patterned dystrophy of retinal pigment epithelium|MDPT1|butterfly-shaped pigmentary maculary dystrophy 1|macular dystrophy, patterned, type 1|PRPH2 patterned macular dystrophy|butterfly-shaped pigment dystrophy of the fovea|macular dystrophy, patterned, 1; MDPT1|macular dystrophy, butterfly-shaped pigmentary|patterned macular dystrophy caused by mutation in PRPH2|macular dystrophy, butterfly-Shaped pigmentary|butterfly dystrophy of retinal pigment epithelium|patterned macular dystrophy type 1 CL:0000948 IgE memory B cell biolink:Cell mondo A class switched memory B cell that expresses IgE on the cell surface. http://purl.obolibrary.org/obo/CL_0000948 memory IgE B cell|memory IgE B-cell|memory IgE B lymphocyte|IgE memory B-cell|IgE memory B lymphocyte|memory IgE B-lymphocyte|IgE memory B-lymphocyte MONDO:0011870 annular epidermolytic ichthyosis biolink:Disease mondo ICD10:Q80.3|UMLS:C1843463|Orphanet:281139|OMIM:607602|MESH:C564367|SCTID:718631006 Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. SNOMEDCT:718631006|UMLS:C1843463|http://identifiers.org/omim/607602|MESH:C564367|ORPHA:281139 http://purl.obolibrary.org/obo/MONDO_0011870 epidermolytic ichthyosis, annular|ichthyosis, cyclic, with epidermolytic hyperkeratosis|AEI|Ciehk ordo_disease MONDO:0011872 Griscelli syndrome type 2 biolink:Disease mondo GARD:0004483|OMIM:607624|ICD10:E70.3|MESH:C537302|DOID:0060833|UMLS:C1868679|Orphanet:79477|NCIT:C111814 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood. NCIT:C111814|MESH:C537302|http://identifiers.org/omim/607624|UMLS:C1868679|ORPHA:79477|DOID:0060833 http://purl.obolibrary.org/obo/MONDO_0011872 Griscelli-Pruni��ras syndrome type 2|Griscelli syndrome, type 2|Griscelli-Pruniéras syndrome type 2|Paid syndrome|hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|GS2|PAID syndrome|Griscelli syndrome, type 2; GS2|Griscelli disease type 2|partial albinism and immunodeficiency syndrome|Griscelli syndrome with hemophagocytic syndrome|Griscelli-PruniC)ras syndrome type 2 ordo_clinical_subtype|gard_rare MONDO:0011871 Niemann-Pick disease type B biolink:Disease mondo NCIT:C126866|SCTID:39390005|OMIM:607616|ICD10:E75.2|MESH:D052537|DOID:0070112|ICD10:E75.241|Orphanet:77293|GARD:0010729|UMLS:C0268243 Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea UMLS:C0268243|DOID:0070112|http://identifiers.org/omim/607616|MESH:D052537|ORPHA:77293|SNOMEDCT:39390005|NCIT:C126866 http://purl.obolibrary.org/obo/MONDO_0011871 Niemann-Pick disease, type F|type B Niemann-Pick disease|Niemann-Pick disease, type E|Niemann-PICK disease, type B|Niemann Pick disease type B|Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression gard_rare|ordo_disease MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome biolink:Disease mondo GARD:0010583|Orphanet:59303|UMLS:C1843355|OMIM:607626|MESH:C564365|SCTID:724278007 Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. SNOMEDCT:724278007|ORPHA:59303|UMLS:C1843355|http://identifiers.org/omim/607626|MESH:C564365 http://purl.obolibrary.org/obo/MONDO_0011874 IHSC|ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis|NISCH syndrome|Ilvasc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|Nisch syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; ILVASC ordo_disease MONDO:0011873 Niemann-Pick disease, type C2 biolink:Disease mondo UMLS:C1843366|OMIM:607625|NCIT:C126865|DOID:0070114|MESH:C536119|ICD10:E75.2|GARD:0003992 Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person. DOID:0070114|MESH:C536119|UMLS:C1843366|http://identifiers.org/omim/607625|NCIT:C126865 http://purl.obolibrary.org/obo/MONDO_0011873 Niemann-PICK disease, type C2; NPC2|type C2 Niemann-Pick disease|Niemann-Pick disease, type C2|Niemann-Pick disease type C2|NPC2 gard_rare MONDO:0011876 juvenile absence epilepsy biolink:Disease mondo DOID:0060172|ICD10:G40.3|OMIMPS:607631|UMLS:C4317339|NCIT:C129868|Orphanet:1941|GARD:0002162|SCTID:230413002 Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. UMLS:C2930918|UMLS:C4317339|NCIT:C129868|SNOMEDCT:230413002|ORPHA:1941|MESH:C535495|DOID:0060172 http://purl.obolibrary.org/obo/MONDO_0011876 epilepsy, juvenile absence, susceptibility to, 1|epilepsy, juvenile absence, susceptibility to, 1; EJA1|susceptibility to juvenile absence epilepsy 1|epilepsy, juvenile absence, susceptibility to, type 1|JAE|epilepsy juvenile absence ordo_disease|predisposition MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 biolink:Disease mondo OMIM:607628 Any generalised epilepsy in which the cause of the disease is a mutation in the CLCN2 gene. http://identifiers.org/omim/607628 http://purl.obolibrary.org/obo/MONDO_0011875 epilepsy, juvenile absence, susceptibility to, 2|epilepsy, juvenile myoclonic, susceptibility to, 8|generalised epilepsy caused by mutation in CLCN2|epilepsy, idiopathic generalized, susceptibility to, type 11|epilepsy, idiopathic generalized, susceptibility to, 11; EIG11|susceptibility to idiopathic generalized epilepsy 11|EIG11|CLCN2 generalised epilepsy|epilepsy, idiopathic generalized, susceptibility to, 11 predisposition RO:0002629 directly positively regulates biolink:OntologyClass mondo Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2. http://purl.obolibrary.org/obo/RO_0002629 MONDO:0008228 pernicious anemia biolink:Disease mondo UMLS:C0002892|ICD10:D51.0|EFO:0005576|GARD:0012671|MESH:D000752|ICD9:281.0|SCTID:84027009|OMIM:170900|COHD:432295|NCIT:C2871|DOID:13381 Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. MESH:D000752|http://identifiers.org/omim/170900|DOID:13381|SNOMEDCT:84027009|UMLS:C0002892|NCIT:C2871 http://purl.obolibrary.org/obo/MONDO_0008228 Addison anaemia|anemia pernicious|pernicious anemia|intrinsic factor deficiency|Biermer's anemia|Addison's anaemia NCBITaxon:7953 Cyprinidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7953 MONDO:0008229 peroneal nerve, accessory deep biolink:Disease mondo UMLS:C1868426|GARD:0008546|OMIM:170980|MESH:C536001 MESH:C536001|UMLS:C1868426|http://identifiers.org/omim/170980 http://purl.obolibrary.org/obo/MONDO_0008229 accessory deep peroneal nerve|peroneal nerve, accessory deep gard_rare NCBITaxon:7952 Cypriniformes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7952 carps and others MONDO:0008226 aggressive periodontitis biolink:Disease mondo DOID:1474|OMIM:170650|EFO:0006342|UMLS:C0031106|MESH:D010520|ICD9:523.5|ICD10:K05.2 A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people. http://identifiers.org/omim/170650|MESH:D010520|DOID:1474|UMLS:C0031106 http://purl.obolibrary.org/obo/MONDO_0008226 juvenile periodontitis|periodontitis, aggressive, 1|periodontitis, prepubertal|periodontitis, juvenile|periodontitis, aggressive, type 1 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome biolink:Disease mondo Orphanet:168552|MESH:C535791|UMLS:C1843706|GARD:0008719|ICD10:Q77.8|OMIM:607543 MESH:C535791|ORPHA:168552|http://identifiers.org/omim/607543|UMLS:C1843706 http://purl.obolibrary.org/obo/MONDO_0011856 SmD with with bowed forearms and facial dysmorphism|spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism|SmD with bowed forearms and Facial Dysmorphism ordo_disease MONDO:0008227 peripheral dysostosis biolink:Disease mondo UMLS:CN074256|GARD:0002015|ICD10:Q74.8|Orphanet:1795|OMIM:170700 ORPHA:1795|http://identifiers.org/omim/170700|UMLS:CN074256 http://purl.obolibrary.org/obo/MONDO_0008227 peripheral dysostosis|dysostosis peripheral ordo_malformation_syndrome|gard_rare MONDO:0011855 granular corneal dystrophy type II biolink:Disease mondo ICD10:H18.5|ICD9:371.56|SCTID:397568004|Orphanet:98963|GARD:0009278|MESH:C535474|DOID:0060444|UMLS:C1275685|OMIM:607541 Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. DOID:0060444|UMLS:C1275685|http://identifiers.org/omim/607541|ORPHA:98963|SNOMEDCT:397568004|MESH:C535474 http://purl.obolibrary.org/obo/MONDO_0011855 granular-lattice corneal dystrophy|avellino corneal dystrophy|combined granular-lattice corneal dystrophies|GCD2|corneal dystrophy Avellino type|GCDII|granular corneal dystrophy, type 2|Avellino corneal dystrophy|granular-lattice (Avellino) corneal dystrophy|corneal dystrophy, AVELLINO type; CDA|granular corneal dystrophy type 2|ACD|CGD2|granular and lattice corneal dystrophies|corneal dystrophy, AVELLINO type|CDA|combined granular-lattice corneal dystrophy ordo_disease MONDO:0008224 hyperkalemic periodic paralysis biolink:Disease mondo UMLS:CN074266|SCTID:304737009|Orphanet:682|GARD:0000195|ICD10:G72.3|OMIM:170500|NCIT:C123429|MESH:D020513|DOID:14451|UMLS:C0238357 Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. DOID:14451|ORPHA:682|MESH:C535409|SNOMEDCT:304737009|MESH:D020513|NCIT:C123429|UMLS:C0238357|UMLS:C2930895|UMLS:CN074266|http://identifiers.org/omim/170500 http://purl.obolibrary.org/obo/MONDO_0008224 sodium channel muscle disease|Gamstorp episodic adynamy|Gamstorp disease|HYPP|adynamia episodica hereditaria with or without myotonia|hyperkalemic PP|familial hyperkalemic periodic paralysis (disorder) [ambiguous]|hyperkalemic periodic paralysis|primary hyperkalemic periodic paralysis|adynamia episodica hereditaria|hyperKPP|hyperkalemic periodic paralysis; HYPP|familial hyperkalemic periodic paralysis|normokalemic periodic paralysis, potassium-sensitive|primary hyperPP|hyperPP|familial hyperPP ordo_disease|gard_rare MONDO:0011858 spastic paraplegia, ataxia, and mental retardation biolink:Disease mondo UMLS:C1843661|OMIM:607565|MESH:C564378 MESH:C564378|http://identifiers.org/omim/607565|UMLS:C1843661 http://purl.obolibrary.org/obo/MONDO_0011858 Spar|spastic paraplegia, ataxia, and intellectual disability|spastic paraplegia, ataxia, and mental retardation CL:0000954 small pre-B-II cell biolink:Cell mondo A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. http://purl.obolibrary.org/obo/CL_0000954 small pre-BII cell MONDO:0011857 atrial fibrillation, familial, 3 biolink:Disease mondo MESH:C563817|OMIM:607554|UMLS:C1837014 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene. UMLS:C1837014|MESH:C563817|http://identifiers.org/omim/607554 http://purl.obolibrary.org/obo/MONDO_0011857 atrial fibrillation, familial, 3; ATFB3|familial atrial fibrillation caused by mutation in KCNQ1|atrial fibrillation, familial, type 3|ATFB3|atrial fibrillation, familial, 3|KCNQ1 familial atrial fibrillation MONDO:0008225 normokalemic periodic paralysis biolink:Disease mondo Orphanet:680|OMIM:170600|SCTID:40381009|UMLS:C0268445|NCIT:C122791|GARD:0004009 http://identifiers.org/omim/170600|ORPHA:680|SNOMEDCT:40381009|UMLS:C0268445|NCIT:C122791 http://purl.obolibrary.org/obo/MONDO_0008225 potassium-sensitive normokalemic periodic paralysis|periodic paralysis type 3|normokalemic PP|normokalemic periodic paralysis|NormoKPP CL:0000955 pre-B-II cell biolink:Cell mondo BTO:0001133|CALOHA:TS-0819 A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. http://purl.obolibrary.org/obo/CL_0000955 pre-B-lymphocyte|pre-BII cell MONDO:0008222 Andersen-Tawil syndrome biolink:Disease mondo Orphanet:37553|UMLS:C1563715|ICD9:759.89|SCTID:422348008|OMIM:170390|MESH:D050030|NCIT:C84559|ICD10:G72.3|GARD:0009453|DOID:0050434 Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. ORPHA:37553|MESH:D050030|NCIT:C84559|UMLS:C1563715|http://identifiers.org/omim/170390|SNOMEDCT:422348008|DOID:0050434 http://purl.obolibrary.org/obo/MONDO_0008222 long QT syndrome type 7|Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features|long QT syndrome 7|periodic paralysis, Potassium-sensitive cardiodysrhythmic type|Andersen syndrome|cardiodysrhythmic potassium-sensitive periodic paralysis|LQT7|ATS|Andersen cardiodysrhythmic periodic paralysis|Potassium-sensitive cardiodysrhythmic type|Andersen-Tawil syndrome ordo_disease CL:0000956 pre-B-I cell biolink:Cell mondo A pre-B-I cell is a precursor B cell that expresses CD34 and surrogate immunoglobulin light chain (VpreB , Lambda 5 (mouse)/14.1 (human)) on the cell surface, and TdT, Rag1,and Rag2 intracellularly. Cell type carries a D-JH DNA rearrangement, and lacks expression of immunglobulin heavy chain protein. http://purl.obolibrary.org/obo/CL_0000956 pro-B cell (Philadelphia nomenclature)|pre-BI cell MONDO:0008223 hypokalemic periodic paralysis biolink:Disease mondo ICD10:G72.3|UMLS:C0238358|Orphanet:681|SCTID:82732003|MESH:D020514|NCIT:C84775|DOID:14452|GARD:0006729 Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels. ORPHA:681|NCIT:C84775|MESH:D020514|UMLS:C0238358|SNOMEDCT:82732003|DOID:14452 http://purl.obolibrary.org/obo/MONDO_0008223 familial periodic paralysis (& [hypokalaemic])|periodic hypokalemic paralysis|Westphall disease|familial hypokalemic periodic paralysis|HOKPP|HypoPP|familial periodic paralysis|hypokalemic familial periodic paralysis|hypokalemic periodic paralysis|periodic paralysis I|HKPP ordo_disease|gard_rare MONDO:0011859 obsolete distal myopathy with early respiratory muscle involvement biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011859 MONDO:0008220 pepsinogen 3, group 1 biolink:Disease mondo OMIM:169710 http://identifiers.org/omim/169710 http://purl.obolibrary.org/obo/MONDO_0008220 pepsinogen 3, Group type 1|pepsinogen I--second locus|PGA3|pepsinogen 3, group I; PGA3|pepsinogen 3, group I CL:0000958 T1 B cell biolink:Cell mondo A transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen. This cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative, and CD93-positive. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-negative. http://purl.obolibrary.org/obo/CL_0000958 transitional stage 1 B cell|T1 B-cell|T1 B lymphocyte|T1 B-lymphocyte CL:0000959 T2 B cell biolink:Cell mondo A transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, CD93-positive and is located in the splenic B follicles. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-positive. http://purl.obolibrary.org/obo/CL_0000959 T2 B-lymphocyte|transitional stage 2 B cell|T2 B-cell|T2 B lymphocyte MONDO:0008221 prolidase deficiency biolink:Disease mondo Orphanet:742|OMIM:170100|NCIT:C85029|MESH:D056732|UMLS:C0268532|SCTID:410055005|GARD:0007473|ICD10:E72.8 Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. NCIT:C85029|UMLS:C1534653|UMLS:C0268532|MESH:D056732|http://identifiers.org/omim/170100|ORPHA:742|SNOMEDCT:410055005 http://purl.obolibrary.org/obo/MONDO_0008221 Peptidase deficiency|prolidase deficiency|hyperimidodipeptiduria|Imidodipeptidase deficiency ordo_disease MONDO:0011861 breath-holding Spells biolink:Disease mondo OMIM:607578 http://identifiers.org/omim/607578 http://purl.obolibrary.org/obo/MONDO_0011861 Bhs|breath-holding Spells MONDO:0011860 LPRS2 biolink:Disease mondo OMIM:607572|UMLS:C1843632 http://identifiers.org/omim/607572|UMLS:C1843632 http://purl.obolibrary.org/obo/MONDO_0011860 leprosy, susceptibility to, 2|leprosy, susceptibility to, 2; LPRS2|LPRS2 predisposition MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 biolink:Disease mondo OMIM:607592 http://identifiers.org/omim/607592 http://purl.obolibrary.org/obo/MONDO_0011863 HPCqtl19|prostate cancer aggressiveness quantitative trait locus on chromosome type 19|prostate cancer aggressiveness quantitative trait locus on chromosome 19 MONDO:0011862 hereditary spastic paraplegia 24 biolink:Disease mondo OMIM:607584|UMLS:C1843569|Orphanet:101004|ICD10:G11.4|MESH:C564375|GARD:0009296|DOID:0110775 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14. http://identifiers.org/omim/607584|UMLS:C1843569|MESH:C564375|DOID:0110775|ORPHA:101004 http://purl.obolibrary.org/obo/MONDO_0011862 hereditary spastic paraplegia type 24|spastic paraplegia 24, autosomal recessive; SPG24|SPG24|autosomal recessive spastic paraplegia type 24|spastic paraplegia 24|spastic paraplegia 24, autosomal recessive|autosomal recessive spastic paraplegia 24 ordo_disease MONDO:0011865 obsolete COL4A1-related familial vascular leukoencephalopathy biolink:Disease mondo A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34. http://purl.obolibrary.org/obo/MONDO_0011865 MONDO:0011864 immunodeficiency, common variable, 1 biolink:Disease mondo OMIM:607594|UMLS:C3149378 UMLS:C3149378|http://identifiers.org/omim/607594 http://purl.obolibrary.org/obo/MONDO_0011864 immunodeficiency, common variable, 1; CVID1|immunodeficiency, common variable|immunodeficiency, common variable, 1|antibody deficiency due to Icos defect|immunodeficiency, common variable, type 1|CVID1 NCBITaxon:7962 Cyprinus carpio organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7962 koi|fancy carp|common carp|mirror carp|carp NCBITaxon:7961 Cyprinus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7961 GO:0005615 extracellular space biolink:OntologyClass mondo That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. http://purl.obolibrary.org/obo/GO_0005615 intercellular space NCBITaxon:64279 Drosophila C virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_64279 DCV UBERON:0007530 migrating mesenchyme population biolink:AnatomicalEntity mondo Mesenchymal cells that are migrating. http://purl.obolibrary.org/obo/UBERON_0007530 GO:0005622 intracellular anatomical structure biolink:OntologyClass mondo A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/GO_0005622 nucleocytoplasm|protoplast|intracellular|protoplasm|internal to cell GO:0005623 obsolete cell biolink:OntologyClass mondo OBSOLETE. The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. http://purl.obolibrary.org/obo/GO_0005623 HGNC:5948 IGSF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5948 UBERON:0007521 smooth muscle sphincter biolink:AnatomicalEntity mondo A ring of smooth muscle cells whose contraction closes the opening of the ring. http://purl.obolibrary.org/obo/UBERON_0007521 HGNC:5950 IGSF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/5950 HGNC:5956 IHH biolink:OntologyClass mondo http://identifiers.org/hgnc/5956 UBERON:0007529 loose mesenchyme tissue biolink:AnatomicalEntity mondo Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0007529 UBERON:0007524 dense mesenchyme tissue biolink:AnatomicalEntity mondo Mesenchyme with little extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0007524 HGNC:5959 ELP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5959 HGNC:5960 IKBKB biolink:OntologyClass mondo http://identifiers.org/hgnc/5960 HP:0000175 Cleft palate biolink:PhenotypicFeature mondo SNOMEDCT_US:63567004|MSH:D002972|SNOMEDCT_US:87979003|UMLS:C0008925|Fyler:4876|UMLS:C2981150 Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). http://purl.obolibrary.org/obo/HP_0000175 Cleft palate|Cleft hard and soft palate|Cleft of hard and soft palate|Cleft of palate|Cleft secondary palate|Uranostaphyloschisis|Cleft roof of mouth|Palatoschisis hposlim_core HGNC:5961 IKBKG biolink:OntologyClass mondo http://identifiers.org/hgnc/5961 HGNC:5962 IL10 biolink:OntologyClass mondo http://identifiers.org/hgnc/5962 HP:0000177 Abnormality of upper lip biolink:PhenotypicFeature mondo UMLS:C4025884 An abnormality of the upper lip. http://purl.obolibrary.org/obo/HP_0000177 Deformity of the upper lip|Malformation of the upper lip|Abnormality of upper lip|Anomaly of the upper lip hposlim_core HGNC:5964 IL10RA biolink:OntologyClass mondo http://identifiers.org/hgnc/5964 HGNC:5965 IL10RB biolink:OntologyClass mondo http://identifiers.org/hgnc/5965 HGNC:5967 IL11RA biolink:OntologyClass mondo http://identifiers.org/hgnc/5967 NCBITaxon:91888 lamiids organism taxon mondo PMID:12144762|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_91888 euasterids I HP:0000174 Abnormal palate morphology biolink:PhenotypicFeature mondo UMLS:C4021815 Any abnormality of the palate, i.e., of roof of the mouth. http://purl.obolibrary.org/obo/HP_0000174 Palatal anomaly|Abnormality of the palate|Palate abnormality|Abnormality of the roof of the mouth hposlim_core GO:0005604 basement membrane biolink:OntologyClass mondo A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. http://purl.obolibrary.org/obo/GO_0005604 basal lamina|basement lamina|lamina densa HGNC:3309 ELANE biolink:OntologyClass mondo http://identifiers.org/hgnc/3309 NCBITaxon:40272 Roseolovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_40272 HGNC:5971 IL12RB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5971 HGNC:5973 IL13 biolink:OntologyClass mondo http://identifiers.org/hgnc/5973 UBERON:0007503 epithelial vesicle biolink:AnatomicalEntity mondo A closed epithelium with a lumen. http://purl.obolibrary.org/obo/UBERON_0007503 UBERON:0007501 arborizing epithelial duct system biolink:AnatomicalEntity mondo A collection of connected epithelial tubes with a single portal. http://purl.obolibrary.org/obo/UBERON_0007501 arborising epithelial duct system UBERON:0007500 epithelial tube open at both ends biolink:AnatomicalEntity mondo An epithelial tube open at both ends that allows fluid flow. http://purl.obolibrary.org/obo/UBERON_0007500 HGNC:5970 IL12B biolink:OntologyClass mondo http://identifiers.org/hgnc/5970 MONDO:0011929 chromosome 1p36 deletion syndrome biolink:Disease mondo UMLS:C1842870|SCTID:699306003|GARD:0006082|ICD9:758.39|OMIM:607872|DOID:0060410|NCIT:C74983|MESH:C535362|Orphanet:1606|ICD10:Q93.5 1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency. SNOMEDCT:699306003|ORPHA:1606|http://identifiers.org/omim/607872|MESH:C535362|UMLS:C1842870|NCIT:C74983|DOID:0060410 http://purl.obolibrary.org/obo/MONDO_0011929 monosomy 1P36 syndrome|monosomy 1p36|1p Telomere Deletion syndrome|deletion 1p36|deletion 1pter|1p36 deletion syndrome|monosomy 1pter|chromosome 1p36 deletion syndrome|subtelomeric 1p36 deletion|Del(1)(p36) ordo_malformation_syndrome|gard_rare NCBITaxon:447134 Myodes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_447134 Clethrionomys NCBITaxon:447135 Myodes glareolus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_447135 bank vole|Bank vole|Clethrionomys glareolus MONDO:0011922 adult idiopathic neutropenia biolink:Disease mondo OMIM:607847|ICD10:D70|UMLS:C1842930|MESH:C564320|Orphanet:2688 ORPHA:2688|http://identifiers.org/omim/607847|MESH:C564320|UMLS:C1842930 http://purl.obolibrary.org/obo/MONDO_0011922 Ni-Cina|nonimmune chronic idiopathic neutropenia of adults|neutropenia, nonimmune chronic idiopathic, of adults ordo_disease MONDO:0011921 aural atresia, congenital biolink:Disease mondo UMLS:C1842937|MESH:C564321|OMIM:607842 http://identifiers.org/omim/607842|MESH:C564321|UMLS:C1842937 http://purl.obolibrary.org/obo/MONDO_0011921 CAA|aural atresia, congenital; CAA|aural atresia, congenital|aural atresia, congenital, with hyposmia MONDO:0011924 panic disorder 2 biolink:Disease mondo UMLS:C1842922|OMIM:607853 http://identifiers.org/omim/607853|UMLS:C1842922 http://purl.obolibrary.org/obo/MONDO_0011924 Pand2|panic disorder type 2|panic disorder susceptibility locus, chromosome 9Q-related|panic disorder 2 MONDO:0011923 osteoarthritis susceptibility 3 biolink:Disease mondo OMIM:607850 Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene. http://identifiers.org/omim/607850 http://purl.obolibrary.org/obo/MONDO_0011923 osteoarthritis susceptibility 3|ASPN osteoarthritis|osteoarthritis of knee/hip|osteoarthritis susceptibility 3; OS3|osteoarthritis susceptibility type 3|osteoarthritis caused by mutation in ASPN|OS3 predisposition MONDO:0011926 PSORS9 biolink:Disease mondo OMIM:607857 http://identifiers.org/omim/607857 http://purl.obolibrary.org/obo/MONDO_0011926 PSORS9|psoriasis 9, susceptibility to|psoriasis 9, susceptibility to; PSORS9 MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A biolink:Disease mondo UMLS:C1263858|OMIM:607855|SCTID:111503008|DOID:0110636|NCIT:C118783|ICD10:G71.2|EFO:0009138|GARD:0003843|Orphanet:258 Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. NCIT:C118783|ORPHA:258|SNOMEDCT:111503008|http://identifiers.org/omim/607855|DOID:0110636|UMLS:C1263858 http://purl.obolibrary.org/obo/MONDO_0011925 muscular dystrophy, congenital merosin-deficient|merosin-negative congenital muscular dystrophy|merosin-deficient congenital muscular dystrophy type 1A|muscular dystrophy, congenital merosin-deficient, 1A|muscular dystrophy, congenital, merosin-deficient|MDC1A|congenital muscular dystrophy due to laminin alpha2 deficiency|muscular dystrophy, congenital merosin-deficient, 1A; MDC1A|LAMA2 congenital muscular dystrophy|CMD1A|LAMA2-related muscular dystrophy|congenital merosin-deficient muscular dystrophy type 1A|laminin alpha-2 deficiency|congenital muscular dystrophy type 1A|congenital muscular dystrophy caused by mutation in LAMA2|muscular dystrophy, congenital merosin-deficient, type 1A|muscular dystrophy, congenital, due to partial LAMA2 deficiency|merosin-deficient congenital muscular dystrophy ordo_malformation_syndrome MONDO:0011928 caudal duplication biolink:Disease mondo ICD10:Q87.8|UMLS:C1842884|MESH:C564315|Orphanet:1756|OMIM:607864|SCTID:71464000|GARD:0001164 Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents. UMLS:C0266688|SNOMEDCT:71464000|ORPHA:1756|http://identifiers.org/omim/607864|MESH:C564315|UMLS:C1842884 http://purl.obolibrary.org/obo/MONDO_0011928 caudal DUPLICATION anomaly|split notochord syndrome|dipygus ordo_malformation_syndrome|gard_rare MONDO:0011927 tufted angioma (disease) biolink:Disease mondo MESH:C536924|OMIM:607859|ICD10:D18.0|ICDO:9161/0|NCIT:C4487|SCTID:705155008|Orphanet:1063|HP:0012329|ICD9:215.9|UMLS:C0346073|GARD:0000425 Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood. NCIT:C4487|UMLS:C0346073|ORPHA:1063|http://identifiers.org/omim/607859|MESH:C536924|SNOMEDCT:705155008 http://purl.obolibrary.org/obo/MONDO_0011927 tufted hemangioma of skin|tufted hemangioma of the skin|tufted angioma|tufted angioma of skin|tufted angioma of the skin|tufted hemangioma|angioma tufted|tufted skin angioma|angioma, tufted|Nakagawa angioblastoma|angioblastoma of Nakagawa ordo_disease HGNC:5985 IL17RA biolink:OntologyClass mondo http://identifiers.org/hgnc/5985 MONDO:0011931 OVCAS1 biolink:Disease mondo OMIM:607893 http://identifiers.org/omim/607893 http://purl.obolibrary.org/obo/MONDO_0011931 ovarian cancer, susceptibility to, 1|ovarian cancer, susceptibility to, 1; OVCAS1|OVCAS1 predisposition MONDO:0011930 epilepsy, familial adult myoclonic, 2 biolink:Disease mondo MESH:C564313|OMIM:607876|UMLS:C1842852 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene. http://identifiers.org/omim/607876|MESH:C564313|UMLS:C1842852 http://purl.obolibrary.org/obo/MONDO_0011930 FAME2|cortical myoclonus and epilepsy, autosomal dominant|cortical myoclonic tremor with epilepsy, familial, 2|ADRA2B epilepsy, familial adult myoclonic|epilepsy, familial adult myoclonic caused by mutation in ADRA2B|epilepsy, familial ADULT myoclonic, 2; FAME2|benign adult familial myoclonic epilepsy 2|epilepsy, familial adult myoclonic, 2|epilepsy, familial adult myoclonic, type 2 HGNC:3327 ELN biolink:OntologyClass mondo http://identifiers.org/hgnc/3327 CHEBI:30563 silicon dioxide biolink:ChemicalSubstance mondo A silicon oxide made up of linear triatomic molecules in which a silicon atom is covalently bonded to two oxygens. http://purl.obolibrary.org/obo/CHEBI_30563 Kieselsaeureanhydrid|silicon(IV) oxide|SiO2|[SiO2]|silicic anhydride|(SiO2)n|Siliziumdioxid|Silica, amorphous|silica|silicon dioxide MONDO:0011919 autoimmune disease, susceptibility to, 1 biolink:Disease mondo OMIM:607836 Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene. http://identifiers.org/omim/607836 http://purl.obolibrary.org/obo/MONDO_0011919 susceptibility to autoimmune disease 1|autoimmune disease, susceptibility to, 1|autoimmune disease caused by mutation in FOXD3|autoimmune disease, susceptibility to, 1; AIS1|vitiligo-associated multiple autoimmune disease susceptibility 2|AIS1|autoimmune disease susceptibility locus, chromosome 1P-related|FOXD3 autoimmune disease|autoimmune disease, susceptibility to, type 1 predisposition MONDO:0011918 anxiety biolink:Disease mondo OMIM:607834 http://identifiers.org/omim/607834 http://purl.obolibrary.org/obo/MONDO_0011918 anxiety|harm avoidance MONDO:0011911 craniolenticulosutural dysplasia biolink:Disease mondo DOID:0070307|ICD10:Q75.8|Orphanet:50814|OMIM:607812|UMLS:C1843042|MESH:C564332|SCTID:725100001 Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. DOID:0070307|ORPHA:50814|UMLS:C1843042|SNOMEDCT:725100001|http://identifiers.org/omim/607812|MESH:C564332 http://purl.obolibrary.org/obo/MONDO_0011911 CLSD|Boyadjiev-Jabs syndrome|craniolenticulosutural dysplasia|craniolenticulosutural dysplasia; CLSD|cranio-lenticulo-sutural dysplasia, CLSD ordo_malformation_syndrome MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C biolink:Disease mondo UMLS:C1832567|GARD:0012527|OMIM:607801|MESH:C563362|ICD10:G71.0|DOID:0110302|NCIT:C148318|SCTID:719986000|Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a childhood to adulthood onset of progressive, mild-to-moderate proximal muscle weakness, calf hypertrophy, and variable muscle cramping/stiffness or myalgia, after exercise. A positive Gowers sign and elevated creatine kinase serum levels are frequently observed. Initial motor milestones are usually normal and muscle rippling may be observed. Respiratory and cardiac anomalies are generally not associated with LGMD1C. NCIT:C148318|SNOMEDCT:719986000|UMLS:C1832567|ORPHA:265|http://identifiers.org/omim/607801|DOID:0110302|MESH:C563362 http://purl.obolibrary.org/obo/MONDO_0011910 muscular dystrophy limb-girdle type IC|limb-girdle muscular dystrophy due to caveolin-3 deficiency|muscular dystrophy, limb-girdle, type 1C|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|limb-girdle muscular dystrophy type 1C|muscular dystrophy, limb-girdle, type 1C; LGMD1C|LGMD1C|CAV3 autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type IC ordo_disease MONDO:0011913 Alzheimer disease 3 biolink:Disease mondo OMIM:607822|NCIT:C123412|DOID:0110042|GARD:0009468 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. NCIT:C123412|DOID:0110042|http://identifiers.org/omim/607822 http://purl.obolibrary.org/obo/MONDO_0011913 Alzheimer disease, familial, 3, with spastic paraparesis and apraxia|Alzheimer's disease 3|Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques|Alzheimer disease type 3|Alzheimer's disease type 3|Alzheimer disease 3, early-onset|Alzheimer disease familial 3|early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1|AD3|familial Alzheimer disease, type 3|Alzheimer disease 3|Alzheimer disease 3, early onset|Alzheimer disease 3; AD|Alzheimer disease, familial, 3|Alzheimer disease early onset type 3|familial Alzheimer's disease, type 3|PSEN1 early-onset autosomal dominant Alzheimer disease MONDO:0011912 autosomal recessive nonsyndromic deafness 37 biolink:Disease mondo OMIM:607821|DOID:0110495|MESH:C564331|UMLS:C1843028|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. UMLS:C1843028|http://identifiers.org/omim/607821|MESH:C564331|DOID:0110495 http://purl.obolibrary.org/obo/MONDO_0011912 DFNB37|autosomal recessive nonsyndromic deafness type 37|autosomal recessive nonsyndromic deafness caused by mutation in MYO6|deafness, autosomal recessive 37; DFNB37|autosomal recessive deafness 37|deafness, autosomal recessive type 37|deafness, autosomal recessive 37|MYO6 autosomal recessive nonsyndromic deafness MONDO:0011915 MMVP2 biolink:Disease mondo MESH:C564326|OMIM:607829|UMLS:C1843003 UMLS:C1843003|http://identifiers.org/omim/607829|MESH:C564326 http://purl.obolibrary.org/obo/MONDO_0011915 MMVP2|mitral valve prolapse, myxomatous 2; MMVP2|mitral valve prolapse 2|mitral valve prolapse 2; MVP2|myxomatous mitral valve prolapse 2|mitral valve prolapse, myxomatous 2|MVP2 MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome biolink:Disease mondo UMLS:C1843004|MESH:C564327|OMIM:607823 UMLS:C1843004|http://identifiers.org/omim/607823|MESH:C564327 http://purl.obolibrary.org/obo/MONDO_0011914 HLTS|hypotrichosis-lymphedema-telangiectasia syndrome|hypotrichosis-lymphedema-telangiectasia syndrome; HLTS MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to biolink:Disease mondo OMIM:607832 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene. http://identifiers.org/omim/607832 http://purl.obolibrary.org/obo/MONDO_0011917 susceptibility to focal segmental glomerulosclerosis 3|glomerulosclerosis, focal segmental, 3, susceptibility to|CD2AP focal segmental glomerulosclerosis|focal segmental glomerulosclerosis 3, susceptibility to|focal segmental glomerulosclerosis caused by mutation in CD2AP|focal segmental glomerulosclerosis 3, susceptibility to; FSGS3|FSGS3 predisposition MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K biolink:Disease mondo DOID:0110167|ICD10:G60.0|UMLS:C1842983|Orphanet:101097|OMIM:607831|SCTID:725047007 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. ORPHA:101097|SNOMEDCT:725047007|http://identifiers.org/omim/607831|DOID:0110167|UMLS:C1842983 http://purl.obolibrary.org/obo/MONDO_0011916 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K|Charcot-Marie-Tooth disease, axonal, type 2K|CMT2K|autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K|Charcot-Marie-Tooth neuropathy axonal type 2K|autosomal recessive axonal CMT4C4|autosomal recessive Charcot-Marie-Tooth disease with hoarseness|Charcot-Marie-Tooth neuropathy, axonal, type 2K|autosomal recessive axonal Charcot-Marie-Tooth disease type 2K|ARCMT2K|Charcot-Marie-Tooth disease, autosomal dominant, type 2K|Charcot-Marie-Tooth disease, axonal, type 2K; CMT2K ordo_disease HGNC:3330 EML1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3330 HGNC:5996 IL1RAPL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5996 GO:0042611 MHC protein complex biolink:OntologyClass mondo A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. http://purl.obolibrary.org/obo/GO_0042611 CHEBI:17578 toluene biolink:ChemicalSubstance mondo The simplest member of the class toluenes consisting of a benzene core which bears a single methyl substituent. http://purl.obolibrary.org/obo/CHEBI_17578 phenylmethane|Toluol|methylbenzene|Toluen|TOLUENE|toluene|Toluene MONDO:0011920 autosomal dominant nonsyndromic deafness 48 biolink:Disease mondo OMIM:607841|DOID:0110571|MESH:C564322|ICD10:H90.3|UMLS:C1842939 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene. http://identifiers.org/omim/607841|MESH:C564322|DOID:0110571|UMLS:C1842939 http://purl.obolibrary.org/obo/MONDO_0011920 autosomal dominant nonsyndromic deafness type 48|deafness, autosomal dominant type 48|autosomal dominant deafness 48|DFNA48|deafness, autosomal dominant 48; DFNA48|autosomal dominant nonsyndromic deafness caused by mutation in MYO1A|MYO1A autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 48 GO:0042613 MHC class II protein complex biolink:OntologyClass mondo A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. http://purl.obolibrary.org/obo/GO_0042613 HGNC:3337 ADGRE2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3337 HGNC:3334 EMP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3334 HGNC:3331 EMD biolink:OntologyClass mondo http://identifiers.org/hgnc/3331 HGNC:5992 IL1B biolink:OntologyClass mondo http://identifiers.org/hgnc/5992 MONDO:0011908 juvenile myelomonocytic leukemia biolink:Disease mondo SCTID:445227008|UMLS:C0349639|ICDO:9946/3|NCIT:C9233|EFO:1000309|ICD10:C93.30|OMIM:607785|MedDRA:10023249|MESH:D054429|Orphanet:86834|GARD:0009884|DOID:0050458|ICD10:C93.3|ONCOTREE:JMML A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) UMLS:C0349639|MEDDRA:10023249|NCIT:C9233|SNOMEDCT:445227008|ORPHA:86834|MESH:D054429|DOID:0050458|http://identifiers.org/omim/607785 http://purl.obolibrary.org/obo/MONDO_0011908 chronic myelomonocytic leukemia|juvenile myelomonocytic leukemia; JMML|JMML|leukemia, juvenile myelomonocytic|leukemia, chronic myelomonocytic|juvenile chronic myelomonocytic leukemia|juvenile chronic myeloid leukemia|JCML|juvenile chronic myelogenous leukemia|juvenile myelomonocytic leukemia ordo_disease NCBITaxon:91835 fabids organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_91835 eurosids I MONDO:0011907 acrocapitofemoral dysplasia biolink:Disease mondo OMIM:607778|GARD:0010605|DOID:0050604|UMLS:C1843096|SCTID:720416007|MESH:C564334|ICD10:Q78.8|Orphanet:63446 Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. SNOMEDCT:720416007|ORPHA:63446|UMLS:C1843096|DOID:0050604|http://identifiers.org/omim/607778|MESH:C564334 http://purl.obolibrary.org/obo/MONDO_0011907 acrocapitofemoral dysplasia|ACFD|acrocapitofemoral dysplasia; ACFD ordo_malformation_syndrome|gard_rare MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate d biolink:Disease mondo Orphanet:100046|DOID:0110200|GARD:0009207|OMIM:607791|ICD10:G60.0|MESH:C564333|SCTID:765747004|UMLS:C1843075 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. ORPHA:100046|SNOMEDCT:765747004|UMLS:C1843075|http://identifiers.org/omim/607791|DOID:0110200|MESH:C564333 http://purl.obolibrary.org/obo/MONDO_0011909 Charcot-Marie-Tooth neuropathy, dominant Intermediate D|Charcot-Marie-Tooth disease, dominant Intermediate type D|MPZ Charcot-Marie-Tooth disease|Charcot Marie Tooth disease dominant intermediate 3|DI-CMTD|autosomal dominant intermediate Charcot-Marie-Tooth disease type D|MPZ-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease caused by mutation in MPZ|Di-Cmtd|Charcot-Marie-Tooth disease, dominant intermediate D|Charcot-Marie-Tooth disease, dominant intermediate D; CMTDID|Charcot-Marie-Tooth neuropathy dominant intermediate D|CMTDID|Charcot-Marie-Tooth disease dominant intermediate type D ordo_disease MONDO:0011900 POROK4 biolink:Disease mondo UMLS:C1843180|OMIM:607728 UMLS:C1843180|http://identifiers.org/omim/607728 http://purl.obolibrary.org/obo/MONDO_0011900 POROK4|porokeratosis 4, disseminated superficial actinic type|porokeratosis 4, disseminated superficial actinic type; POROK4|porokeratosis, disseminated superficial actinic, 2 MONDO:0011902 Charcot-Marie-Tooth disease type 1F biolink:Disease mondo Orphanet:101085|SCTID:719980006|OMIM:607734|UMLS:C1843164|MESH:C537987|ICD10:G60.0|DOID:0110149|GARD:0009191 A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).. ORPHA:101085|SNOMEDCT:719980006|UMLS:C1843164|http://identifiers.org/omim/607734|MESH:C537987|DOID:0110149 http://purl.obolibrary.org/obo/MONDO_0011902 Charcot-Marie-Tooth neuropathy type 1F|Charcot-Marie-Tooth disease, demyelinating, type 1F; CMT1F|CMT1F|Charcot Marie Tooth disease type 1F|CMT 1F|NEFL Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth neuropathy, type 1F|Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL|Charcot-Marie-Tooth disease, demyelinating, type 1F gard_rare|ordo_disease MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H biolink:Disease mondo OMIM:607731|DOID:0110166|Orphanet:101102|MESH:C535415|UMLS:C1843173|ICD10:G60.0|SCTID:720637005|GARD:0009196 Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. ORPHA:101102|SNOMEDCT:720637005|UMLS:C1843173|http://identifiers.org/omim/607731|DOID:0110166|MESH:C535415 http://purl.obolibrary.org/obo/MONDO_0011901 axonal Charcot-Marie-Tooth disease with pyramidal involvement|autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features|Charcot-Marie-Tooth disease type 2H|Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive|CMT2H|Charcot-Marie-Tooth disease, axonal, type 2H|AR-CMT2C|CMT 2H|Charcot Marie Tooth disease type 2H|autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features|autosomal recessive axonal CMT4C2|Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive|Charcot-Marie-Tooth disease, axonal, type 2H; CMT2H ordo_disease MONDO:0011904 seizures, benign familial infantile, 3 biolink:Disease mondo UMLS:C1843140|OMIM:607745 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene. UMLS:C1843140|http://identifiers.org/omim/607745 http://purl.obolibrary.org/obo/MONDO_0011904 convulsions, benign familial infantile, 3|BFIS3|SCN2A benign familial infantile epilepsy|seizures, benign familial infantile, type 3|seizures, benign familial neonatal-infantile|seizures, benign familial infantile, 3|seizures, benign familial infantile, 3; BFIS3|benign familial infantile epilepsy caused by mutation in SCN2A MONDO:0011903 Charcot-Marie-Tooth disease type 2J biolink:Disease mondo DOID:0110157|GARD:0009198|MESH:C535417|ICD10:G60.0|Orphanet:99943|OMIM:607736|SCTID:717014003 Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. ORPHA:99943|http://identifiers.org/omim/607736|DOID:0110157|MESH:C535417|SNOMEDCT:717014003 http://purl.obolibrary.org/obo/MONDO_0011903 Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities|Charcot-Marie-Tooth disease, axonal, type 2J; CMT2J|Charcot-Marie-Tooth disease, axonal, type 2J|Charcot-Marie-Tooth neuropathy, type 2J|Charcot Marie Tooth disease type 2J|CMT 2J|CMT2J|Charcot-Marie-Tooth neuropathy type 2J|autosomal dominant Charcot-Marie-Tooth disease type 2J|Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities ordo_disease|gard_rare MONDO:0011906 congenital bile acid synthesis defect 1 biolink:Disease mondo Orphanet:79301|GARD:0009813|OMIM:607765|MESH:C535442|DOID:0111071|ICD10:K76.8 Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. UMLS:C1843116|DOID:0111071|http://identifiers.org/omim/607765|MESH:C535442|ORPHA:79301 http://purl.obolibrary.org/obo/MONDO_0011906 bile acid synthesis defect, congenital, 1|bile acid synthesis defect, congenital, type 1|congenital bile acid synthesis defect caused by mutation in HSD3B7|BASD1|HSD3B7 congenital bile acid synthesis defect|congenital bile acid synthesis defect, type 1|congenital bile acid synthesis defect type 1|bile acid synthesis defect, congenital, 1; CBAS1|CBAS1|3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of|3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1 ordo_disease MONDO:0011905 familial hypercholanemia biolink:Disease mondo UMLS:C1843139|OMIM:607748|MESH:C564336|Orphanet:238475|SCTID:723360007 Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. SNOMEDCT:723360007|ORPHA:238475|UMLS:C1843139|http://identifiers.org/omim/607748|MESH:C564336 http://purl.obolibrary.org/obo/MONDO_0011905 hypercholanemia, familial; FHCA|FHCA|hereditary hypercholanemia|hypercholanemia, familial ordo_disease HGNC:3341 EMX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3341 HGNC:3349 ENG biolink:OntologyClass mondo http://identifiers.org/hgnc/3349 HGNC:3344 ENAM biolink:OntologyClass mondo http://identifiers.org/hgnc/3344 NCBITaxon:197562 Pancrustacea organism taxon mondo PMID:11557979|GC_ID:1|PMID:10874751 http://purl.obolibrary.org/obo/NCBITaxon_197562 NCBITaxon:52281 Sarcoptidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_52281 NCBITaxon:197563 Mandibulata organism taxon mondo PMID:9727836|PMID:11557979|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_197563 mandibulates NCBITaxon:52283 Sarcoptes scabiei organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_52283 Sarcoptes scabiei type hominis|Sarcoptes scabiei type suis|Sarcoptes scabiei var. chimp|Sarcoptes scabiei var. hominis|Sarcoptes scabiei var. nyctereutis|Sarcoptes scabiei type wallaby|Sarcoptes scabiei var. wallaby|Sarcoptes scabiei type canis|Sarcoptes scabiei type wombati|Sarcoptes scabiei type chimp|Sarcoptes scabiei var. suis|Sarcoptes scabiei var. canis|Sarcoptes scabiei var. wombati NCBITaxon:52282 Sarcoptes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_52282 HGNC:22082 VMA21 biolink:OntologyClass mondo http://identifiers.org/hgnc/22082 GO:0042636 negative regulation of hair cycle biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. http://purl.obolibrary.org/obo/GO_0042636 downregulation of hair cycle|down regulation of hair cycle|inhibition of hair cycle|down-regulation of hair cycle GO:0042633 hair cycle biolink:OntologyClass mondo The cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. http://purl.obolibrary.org/obo/GO_0042633 GO:0042632 cholesterol homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. http://purl.obolibrary.org/obo/GO_0042632 positive regulation of cholesterol homeostasis|regulation of cholesterol homeostasis GO:0042635 positive regulation of hair cycle biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. http://purl.obolibrary.org/obo/GO_0042635 up regulation of hair cycle|stimulation of hair cycle|up-regulation of hair cycle|activation of hair cycle|upregulation of hair cycle GO:0042634 regulation of hair cycle biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. http://purl.obolibrary.org/obo/GO_0042634 HGNC:3356 ENPP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3356 HGNC:3354 ENO3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3354 GO:0030659 cytoplasmic vesicle membrane biolink:OntologyClass mondo The lipid bilayer surrounding a cytoplasmic vesicle. http://purl.obolibrary.org/obo/GO_0030659 GO:0030656 regulation of vitamin metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/GO_0030656 regulation of vitamin metabolism HP:0000118 Phenotypic abnormality biolink:PhenotypicFeature mondo UMLS:C4021819 A phenotypic abnormality. http://purl.obolibrary.org/obo/HP_0000118 Organ abnormality HP:0000119 Abnormality of the genitourinary system biolink:PhenotypicFeature mondo MSH:D014564|UMLS:C0042063|SNOMEDCT_US:42030000|SNOMEDCT_US:287085006|UMLS:C4020895|UMLS:C0080276 The presence of any abnormality of the genitourinary system. http://purl.obolibrary.org/obo/HP_0000119 Genitourinary dysplasia|Abnormality of the GU system|Genitourinary disease|Genitourinary abnormality|Urogenital abnormalities|Genitourinary tract anomalies|Urogenital anomalies|Genitourinary tract malformation GO:0005694 chromosome biolink:OntologyClass mondo A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/GO_0005694 prophase chromosome|interphase chromosome|chromatid NCBITaxon:976 Bacteroidetes organism taxon mondo PMID:29458499|PMID:11542017|PMID:26654112|PMID:28066339|GC_ID:11|PMID:11541229 http://purl.obolibrary.org/obo/NCBITaxon_976 Cytophaga-Flexibacter-Bacteroides phylum|Bacteroidota|Bacteroides-Cytophaga-Flexibacter group|CFB group|Bacteroidaeota|CFB group bacteria|BCF group HP:0000112 Nephropathy biolink:PhenotypicFeature mondo MSH:D007674|UMLS:C1408258|UMLS:C0022658|SNOMEDCT_US:90708001 A nonspecific term referring to disease or damage of the kidneys. http://purl.obolibrary.org/obo/HP_0000112 Kidney disease|Kidney damage HP:0000113 Polycystic kidney dysplasia biolink:PhenotypicFeature mondo Fyler:4508|SNOMEDCT_US:82525005|UMLS:C1567435|UMLS:C0022680|MSH:D007690 The presence of multiple cysts in both kidneys. http://purl.obolibrary.org/obo/HP_0000113 Polycystic kidney disease|Polycystic kidneys|Enlarged polycystic kidneys HP:0000123 Nephritis biolink:PhenotypicFeature mondo UMLS:C0027697|MSH:D009393|SNOMEDCT_US:52845002 The presence of inflammation affecting the kidney. http://purl.obolibrary.org/obo/HP_0000123 Kidney inflammation HP:0002789 Tachypnea biolink:PhenotypicFeature mondo MSH:D059246|UMLS:C0231835|SNOMEDCT_US:271823003 Very rapid breathing. http://purl.obolibrary.org/obo/HP_0002789 Polypnea|Increased respiratory rate or depth of breathing GO:0003018 vascular process in circulatory system biolink:OntologyClass mondo A circulatory process that occurs at the level of the vasculature. http://purl.obolibrary.org/obo/GO_0003018 vasculature process GO:0003014 renal system process biolink:OntologyClass mondo A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). http://purl.obolibrary.org/obo/GO_0003014 kidney system process|excretory system process GO:0003013 circulatory system process biolink:OntologyClass mondo A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. http://purl.obolibrary.org/obo/GO_0003013 GO:0003016 respiratory system process biolink:OntologyClass mondo A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. http://purl.obolibrary.org/obo/GO_0003016 respiratory gaseous exchange GO:0003015 heart process biolink:OntologyClass mondo A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/GO_0003015 cardiac process HP:0002750 Delayed skeletal maturation biolink:PhenotypicFeature mondo UMLS:C0541764|SNOMEDCT_US:123983008 A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. http://purl.obolibrary.org/obo/HP_0002750 Delayed bone age before puberty|Delayed bone maturation|Retarded ossification|Delayed skeletal development|Skeletal maturation retardation|Retarded bone age|Delayed bone age HGNC:10057 RNF13 biolink:OntologyClass mondo http://identifiers.org/hgnc/10057 HP:0002754 Osteomyelitis biolink:PhenotypicFeature mondo SNOMEDCT_US:60168000|SNOMEDCT_US:111253001|UMLS:C2242472|MSH:D010019|UMLS:C0029443 Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. http://purl.obolibrary.org/obo/HP_0002754 Bone infection HGNC:10050 RNASEL biolink:OntologyClass mondo http://identifiers.org/hgnc/10050 HP:0000107 Renal cyst biolink:PhenotypicFeature mondo UMLS:C0022679|MSH:D052177|UMLS:C3887499 A fluid filled sac in the kidney. http://purl.obolibrary.org/obo/HP_0000107 Renal cysts|Kidney cyst|Cystic kidney disease|Cystic kidneys HGNC:10069 RNF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/10069 HGNC:34016 RNU4ATAC biolink:OntologyClass mondo http://identifiers.org/hgnc/34016 HGNC:24678 FTO biolink:OntologyClass mondo http://identifiers.org/hgnc/24678 HP:0012145 Abnormality of multiple cell lineages in the bone marrow biolink:PhenotypicFeature mondo UMLS:C4023024 http://purl.obolibrary.org/obo/HP_0012145 GO:0005652 nuclear lamina biolink:OntologyClass mondo The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane. http://purl.obolibrary.org/obo/GO_0005652 HGNC:24671 FLAD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24671 HP:0000153 Abnormality of the mouth biolink:PhenotypicFeature mondo MSH:D009056|SNOMEDCT_US:128334002|UMLS:C0026633 An abnormality of the mouth. http://purl.obolibrary.org/obo/HP_0000153 Abnormal mouth|Abnormality of the mouth hposlim_core HGNC:12698 VLDLR biolink:OntologyClass mondo http://identifiers.org/hgnc/12698 MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 biolink:Disease mondo UMLS:CN388855|OMIM:617613|DOID:0080274 DOID:0080274|UMLS:CN388855|http://identifiers.org/omim/617613 http://purl.obolibrary.org/obo/MONDO_0033282 multiple mitochondrial dysfunctions syndrome 5; MMDS5|MMDS5 HP:0000155 Oral ulcer biolink:PhenotypicFeature mondo SNOMEDCT_US:26284000|UMLS:C0149745|MSH:D019226 Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. http://purl.obolibrary.org/obo/HP_0000155 Mouth ulcer|Mouth sore|Oral mucosal ulceration hposlim_core MONDO:0033280 nephrotic syndrome 16 biolink:Disease mondo UMLS:CN651336|DOID:0080272|OMIM:617783 DOID:0080272|UMLS:CN651336|http://identifiers.org/omim/617783 http://purl.obolibrary.org/obo/MONDO_0033280 NPHS16|nephrotic syndrome, type 16|nephrotic syndrome 16; NPHS16 HP:0000157 Abnormality of the tongue biolink:PhenotypicFeature mondo UMLS:C0878638 Any abnormality of the tongue. http://purl.obolibrary.org/obo/HP_0000157 Abnormality of the tongue|Glossal abnormality|Tongue abnormality|Abnormal tongue|Lingual abnormality hposlim_core MONDO:0033281 polycystic kidney disease 5 biolink:Disease mondo OMIM:617610|DOID:0080273 Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. DOID:0080273|http://identifiers.org/omim/617610 http://purl.obolibrary.org/obo/MONDO_0033281 polycystic kidney disease caused by mutation in DZIP1L|DZIP1L polycystic kidney disease|PKD5|polycystic kidney disease 5; PKD5 HP:0000159 Abnormal lip morphology biolink:PhenotypicFeature mondo UMLS:C2183966 An abnormality of the lip. http://purl.obolibrary.org/obo/HP_0000159 Anomaly of lip|Lip abnormality|Malformation of lip|Deformity of lip|Abnormal lip|Abnormality of the lip HP:0000152 Abnormality of head or neck biolink:PhenotypicFeature mondo UMLS:C4021817 An abnormality of head and neck. http://purl.obolibrary.org/obo/HP_0000152 Head and neck abnormality|Abnormality of head or neck HGNC:12692 VIM biolink:OntologyClass mondo http://identifiers.org/hgnc/12692 HGNC:10031 RMRP biolink:OntologyClass mondo http://identifiers.org/hgnc/10031 GO:0003006 developmental process involved in reproduction biolink:OntologyClass mondo A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. http://purl.obolibrary.org/obo/GO_0003006 puberty|reproductive developmental process GO:0003008 system process biolink:OntologyClass mondo A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. http://purl.obolibrary.org/obo/GO_0003008 organ system process HGNC:24682 FLVCR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24682 HP:0000164 Abnormality of the dentition biolink:PhenotypicFeature mondo MSH:D014071|UMLS:C0262444|SNOMEDCT_US:422775003|UMLS:C0040427 Any abnormality of the teeth. http://purl.obolibrary.org/obo/HP_0000164 Abnormal dentition|Dental problem|Dental problems|Dental abnormality|Tooth abnormalities|Abnormality of the teeth|Dental abnormalities|Dental anomalies|Abnormal teeth hposlim_core HP:0000168 Abnormality of the gingiva biolink:PhenotypicFeature mondo UMLS:C4021816 Any abnormality of the gingiva (also known as gums). http://purl.obolibrary.org/obo/HP_0000168 Abnormality of the gums|Gingival abnormality hposlim_core NCBITaxon:29907 Sporothrix organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29907 NCBITaxon:29908 Sporothrix schenckii organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29908 Rhinocladium schenckii|Sporotrichum schenckii HP:0000163 Abnormal oral cavity morphology biolink:PhenotypicFeature mondo UMLS:C4025887 Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. http://purl.obolibrary.org/obo/HP_0000163 Abnormality of the oral cavity GO:0005634 nucleus biolink:OntologyClass mondo A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. http://purl.obolibrary.org/obo/GO_0005634 cell nucleus|horsetail nucleus HGNC:24650 EHMT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24650 HP:0000132 Menorrhagia biolink:PhenotypicFeature mondo UMLS:C0025323|MSH:D008595|SNOMEDCT_US:386692008 Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. http://purl.obolibrary.org/obo/HP_0000132 Hypermenorrhea|Abnormally heavy bleeding during menstruation HP:0002795 Functional respiratory abnormality biolink:PhenotypicFeature mondo Fyler:4200|UMLS:C4025677 http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality|Abnormal respiration|Respiratory problem HP:0002793 Abnormal pattern of respiration biolink:PhenotypicFeature mondo UMLS:C1837388 An anomaly of the rhythm or depth of breathing. http://purl.obolibrary.org/obo/HP_0002793 Abnormal respiratory patterns|Abnormal pattern of respiration|Unusual breathing patterns HGNC:10012 RHO biolink:OntologyClass mondo http://identifiers.org/hgnc/10012 HP:0000133 Gonadal dysgenesis biolink:PhenotypicFeature mondo UMLS:C0687149|SNOMEDCT_US:38804009|SNOMEDCT_US:205681004|SNOMEDCT_US:83579008|UMLS:C0018055|MSH:D006060|UMLS:C0018051|MSH:D006059|SNOMEDCT_US:95219002 http://purl.obolibrary.org/obo/HP_0000133 Mixed gonadal dysgenesis|Pure gonadal dysgenesis HGNC:10013 GRK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10013 HP:0000135 Hypogonadism biolink:PhenotypicFeature mondo UMLS:C0020619|SNOMEDCT_US:48130008|MSH:D007006 A decreased functionality of the gonad. http://purl.obolibrary.org/obo/HP_0000135 Decreased activity of gonads HGNC:12679 VDR biolink:OntologyClass mondo http://identifiers.org/hgnc/12679 HP:0002797 Osteolysis biolink:PhenotypicFeature mondo MSH:D010014|UMLS:C0221204|SNOMEDCT_US:30425001|SNOMEDCT_US:203522001 Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. http://purl.obolibrary.org/obo/HP_0002797 Increased bone resorption|Osteolytic defects of bones|Breakdown of bone HP:0000130 Abnormality of the uterus biolink:PhenotypicFeature mondo UMLS:C0266383|SNOMEDCT_US:37849005|MSH:C562565 An abnormality of the uterus. http://purl.obolibrary.org/obo/HP_0000130 Uterine malformations|Abnormality of the uterus|Uterine abnormalities HP:0012115 Hepatitis biolink:PhenotypicFeature mondo SNOMEDCT_US:128241005|UMLS:C0019158|MSH:D006505 Inflammation of the liver. http://purl.obolibrary.org/obo/HP_0012115 Liver inflammation HP:0012116 Abnormal albumin level biolink:PhenotypicFeature mondo UMLS:C4023036 Deviation from normal concentration of albumin in the blood. http://purl.obolibrary.org/obo/HP_0012116 Abnormal albumin level HGNC:24668 CFHR5 biolink:OntologyClass mondo http://identifiers.org/hgnc/24668 HGNC:24669 FIGLA biolink:OntologyClass mondo http://identifiers.org/hgnc/24669 HP:0000142 Abnormal vagina morphology biolink:PhenotypicFeature mondo UMLS:C1856023 Any structural abnormality of the vagina. http://purl.obolibrary.org/obo/HP_0000142 Vaginal malformation HGNC:12687 VHL biolink:OntologyClass mondo http://identifiers.org/hgnc/12687 HGNC:10023 RIT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10023 HP:0000144 Decreased fertility biolink:PhenotypicFeature mondo SNOMEDCT_US:17276009|UMLS:C0520927 http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility|Abnormal fertility HGNC:10024 RLBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10024 HGNC:12680 VEGFA biolink:OntologyClass mondo http://identifiers.org/hgnc/12680 HGNC:12682 VEGFC biolink:OntologyClass mondo http://identifiers.org/hgnc/12682 HP:0000140 Abnormality of the menstrual cycle biolink:PhenotypicFeature mondo UMLS:C4025888|UMLS:C3549779 An abnormality of the ovulation cycle. http://purl.obolibrary.org/obo/HP_0000140 Abnormality of the menstrual cycle|Menstrual abnormalities MONDO:0021130 disorder of sphingolipid biosynthesis biolink:Disease mondo An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0021130 inborn error of sphingolipid biosynthetic process|inborn sphingolipid biosynthetic process disorder|rare inborn error of sphingolipid biosynthetic process|rare inborn error of sphingolipid biosynthetic process CL:0000806 DN2 thymocyte biolink:Cell mondo A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. http://purl.obolibrary.org/obo/CL_0000806 TN2 cell|DN2 cell|DN2 immature T cell|preT.DN2.Th|DN2 alpha-beta immature T-cell|TN2 thymocyte|double negative 2|DN2 alpha-beta immature T lymphocyte|DN2 alpha-beta immature T-lymphocyte CL:0000807 DN3 thymocyte biolink:Cell mondo A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. http://purl.obolibrary.org/obo/CL_0000807 DN3 immature T cell|DN3 cell|TN3 cell|TN3 thymocyte|double negative 3|preT.DN3.Th|DN3 alpha-beta immature T-cell|DN3 alpha-beta immature T lymphocyte|early cortical thymocyte|DN3 alpha-beta immature T-lymphocyte CL:0000808 DN4 thymocyte biolink:Cell mondo A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/CL_0000808 DN4 immature T cell|DN4 immature T-cell|DN4 cell|double negative 4|DN4 alpha-beta immature T lymphocyte|early cortical thymocyte|T.DN4.th|DN4 alpha-beta immature T-lymphocyte CL:0000809 double-positive, alpha-beta thymocyte biolink:Cell mondo A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. http://purl.obolibrary.org/obo/CL_0000809 late cortical thymocyte|DP thymocyte|double-positive, alpha-beta immature T lymphocyte|DP cell MONDO:0021138 bone marrow cancer biolink:Disease mondo UMLS:C2703042|NCIT:C35501 Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003 UMLS:C2703042|NCIT:C35501 http://purl.obolibrary.org/obo/MONDO_0021138 malignant neoplasm of bone marrow|malignant bone marrow tumor|malignant bone marrow neoplasm|cancer of bone marrow|bone marrow cancer MONDO:0021137 not rare biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021137 common MONDO:0008158 dacryocystitis-osteopoikilosis syndrome biolink:Disease mondo GARD:0000351|OMIM:166705|SCTID:721082002|Orphanet:1562|UMLS:C1833698|MESH:C536061 Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter). UMLS:C1833698|MESH:C536061|ORPHA:1562|http://identifiers.org/omim/166705|SNOMEDCT:721082002 http://purl.obolibrary.org/obo/MONDO_0008158 dacryocystitis osteopoikilosis|osteopoikilosis and dacryocystitis|Gunal Seber Basaran syndrome|Gunal-Seber-Basaran syndrome ordo_malformation_syndrome MONDO:0021136 rare biolink:Disease mondo A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. Here we take the European definition to be consistent with Orphanet. http://purl.obolibrary.org/obo/MONDO_0021136 rare (European definition) MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency biolink:Disease mondo OMIM:618022|UMLS:CN248526 http://identifiers.org/omim/618022|UMLS:CN248526 http://purl.obolibrary.org/obo/MONDO_0060733 HHRRD|Hfhrtrd|humerofemoral hypoplasia with radiotibial ray deficiency; HHRRD MONDO:0008159 postmenopausal osteoporosis biolink:Disease mondo UMLS:C0029458|EFO:0003854|COHD:4010333|SCTID:102447009|MESH:D015663 Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. MESH:D015663|SNOMEDCT:102447009|UMLS:C0029458 http://purl.obolibrary.org/obo/MONDO_0008159 osteoporosis, postmenopausal|bone mineral density quantitative trait locus MONDO:0060732 tetraamelia syndrome 2 biolink:Disease mondo OMIM:618021 http://identifiers.org/omim/618021 http://purl.obolibrary.org/obo/MONDO_0060732 tetraamelia syndrome 2 with pulmonary agenesis|tetraamelia syndrome 2; TETAMS2|TETAMS2 MONDO:0021135 rare or common biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021135 obsoletion_candidate MONDO:0008156 autosomal dominant osteopetrosis 2 biolink:Disease mondo GARD:0000383|DOID:0110938|OMIM:166600|SCTID:725050005|UMLS:C3179239|Orphanet:53|ICD10:Q78.2 Albers-Schoenberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). http://identifiers.org/omim/166600|SNOMEDCT:725050005|DOID:0110938|ORPHA:53|UMLS:C3179239 http://purl.obolibrary.org/obo/MONDO_0008156 Albers-Schönberg osteopetrosis|Albers-Schonberg disease, autosomal dominant|Albers-Schonberg osteopetrosis|marble bones, autosomal dominant|osteopetrosis, autosomal dominant, type 2|osteopetrosis, autosomal dominant type 2|autosomal dominant Albers-Schonberg disease|osteopetrosis, autosomal dominant 2|osteopetrosis, autosomal dominant 2; OPTA2|autosomal dominant osteopetrosis type II|osteosclerosis Fragilis generalisata|autosomal dominant osteopetrosis type 2|osteopetrosis autosomal dominant type 2|OPTA2 ordo_malformation_syndrome MONDO:0021134 acquired factor X deficiency biolink:Disease mondo NCIT:C131626|ICD9:286.9|UMLS:C0272328|SCTID:33820001 An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition. NCIT:C131626|UMLS:C0272328|SNOMEDCT:33820001 http://purl.obolibrary.org/obo/MONDO_0021134 acquired factor X deficiency MONDO:0008157 Buschke-Ollendorff syndrome biolink:Disease mondo GARD:0001044|MESH:C537415|OMIM:166700|ICD10:Q78.8|Orphanet:1306 Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin. ORPHA:1306|MESH:C537415|http://identifiers.org/omim/166700 http://purl.obolibrary.org/obo/MONDO_0008157 dermatofibrosis, disseminated with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis|dermatofibrosis lenticularis disseminata, isolated|osteopathia condensans disseminata|Buschke-Ollendorff syndrome|Bos|osteopoikilosis with melorheostosis|dermatofibrosis, disseminated, with osteopoikilosis|Buschke Ollendorff syndrome|Buschke-Ollendorff syndrome; Bos|Dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|osteopoikilosis, isolated ordo_malformation_syndrome MONDO:0021133 acquired factor XIII deficiency biolink:Disease mondo UMLS:C0238120|NCIT:C131629 An acquired coagulation disorder due to reduced levels and activity of factor XIII. NCIT:C131629|UMLS:C0238120 http://purl.obolibrary.org/obo/MONDO_0021133 acquired factor XIII deficiency MONDO:0008154 osteomas of mandible biolink:Disease mondo OMIM:166400|UMLS:C1833733|MESH:C563485 UMLS:C1833733|http://identifiers.org/omim/166400|MESH:C563485 http://purl.obolibrary.org/obo/MONDO_0008154 osteomas of mandible MONDO:0021132 tertiary hyperparathyroidism biolink:Disease mondo SCTID:78200003|NCIT:C114821|UMLS:C0271858|ICD9:588.89 An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism. NCIT:C114821|SNOMEDCT:78200003|UMLS:C0271858 http://purl.obolibrary.org/obo/MONDO_0021132 tertiary hyperparathyroidism MONDO:0021131 frontal lobe ependymal tumor biolink:Disease mondo NCIT:C131573|UMLS:C4330009 An ependymal tumor affecting the frontal lobe of the brain. NCIT:C131573|UMLS:C4330009 http://purl.obolibrary.org/obo/MONDO_0021131 frontal lobe ependymal tumor|ependymal tumor of frontal lobe MONDO:0008155 osteomesopyknosis biolink:Disease mondo UMLS:C0432264|OMIM:166450|ICD10:Q78.2|SCTID:254125009|Orphanet:2777|MESH:C537792|GARD:0000391 Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. SNOMEDCT:254125009|ORPHA:2777|http://identifiers.org/omim/166450|MESH:C537792|UMLS:C0432264 http://purl.obolibrary.org/obo/MONDO_0008155 osteomesopyknosis|axial osteosclerosis ordo_malformation_syndrome|gard_rare CL:0000805 immature single positive thymocyte biolink:Cell mondo A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/CL_0000805 immature single positive T lymphocyte|immature single positive T-lymphocyte|ISP|T.ISP.th|immature single positive T cell MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy biolink:Disease mondo UMLS:C2674705|SCTID:766992008|OMIM:166300|Orphanet:2774|GARD:0003818|GARD:0013042|MESH:C567171 Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. MESH:C567171|SNOMEDCT:766992008|ORPHA:2774|http://identifiers.org/omim/166300|UMLS:C2674705 http://purl.obolibrary.org/obo/MONDO_0008152 multicentric osteolysis nephropathy|Carnevale canun Mendoza syndrome|multicentric carpotarsal osteolysis syndrome|MCTO|idiopathic multicentric osteolysis with or without nephropathy|multicentric carpotarsal osteolysis syndrome; MCTO|osteolysis, hereditary, of carpal bones with or without nephropathy|multicentric carpo-tarsal osteolysis with or without nephropathy|multicentric osteolysis, autosomal dominant ordo_malformation_syndrome|gard_rare MONDO:0008153 progressive osseous heteroplasia biolink:Disease mondo OMIM:166350|SCTID:719271000|ICD10:M61.5|UMLS:C0334041|MedDRA:10048902|Orphanet:2762|MESH:C562735|GARD:0000109 A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. ORPHA:2762|http://identifiers.org/omim/166350|MEDDRA:10048902|SNOMEDCT:719271000|MESH:C562735|UMLS:C0334041 http://purl.obolibrary.org/obo/MONDO_0008153 osteoma cutis|poh|osseous heteroplasia, progressive|osseous heteroplasia, progressive; poh|familial ectopic ossification|ectopic ossification familial type|ectopic ossification, familial ordo_malformation_syndrome|gard_rare HGNC:12775 WNT10B biolink:OntologyClass mondo http://identifiers.org/hgnc/12775 MONDO:0008150 osteoglophonic dwarfism biolink:Disease mondo OMIM:166250|ICD10:Q87.1|GARD:0004142|SCTID:254144002|Orphanet:2645|MESH:C536050 Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. ORPHA:2645|http://identifiers.org/omim/166250|MESH:C536050|UMLS:C0432283|SNOMEDCT:254144002 http://purl.obolibrary.org/obo/MONDO_0008150 OGD|osteoglophonic dwarfism|Osteoglosphonic dysplasia|OSTEOGLOPHONIC dysplasia; OGD|Fairbank-Keats syndrome|OSTEOGLOPHONIC dysplasia ordo_malformation_syndrome HGNC:12774 WNT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12774 MONDO:0008151 gnathodiaphyseal dysplasia biolink:Disease mondo OMIM:166260|MESH:C536039|UMLS:C1833736|Orphanet:53697|GARD:0008698|SCTID:715568002 Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. UMLS:C1833736|http://identifiers.org/omim/166260|MESH:C536039|SNOMEDCT:715568002|ORPHA:53697 http://purl.obolibrary.org/obo/MONDO_0008151 osteogenesis imperfecta with unusual skeletal lesions|gnathodiaphyseal dysplasia|Levin syndrome 2|osteogenesis imperfecta Levin type|GDD|GNATHODIAPHYSEAL dysplasia; GDD|Gnathodiaphyseal sclerosis ordo_malformation_syndrome MONDO:0021129 microphthalmia biolink:Disease mondo ICD9:743.1|EFO:0005569|COHD:376512|HP:0000568|NCIT:C98989|ICD9:743.11|MESH:D008850|OMIMPS:600165|ICD10:Q11.2|DOID:10629|ICD9:743.10|SCTID:204108000 Congenital or developmental anomaly in which the eyeballs are abnormally small. MESH:D008850|NCIT:C98989|SNOMEDCT:204108000|DOID:10629 http://purl.obolibrary.org/obo/MONDO_0021129 microphthalmos|nanophthalmos|microphthalmia|nanophthalmia|nanophthalmos|simple microphthalmos|nanophthalmia MONDO:0021128 has an isolated presentation biolink:Disease mondo An characteristic of a disease in which the disease is manifested as an isolated feature. http://purl.obolibrary.org/obo/MONDO_0021128 MONDO:0033123 exudative vitreoretinopathy 7 biolink:Disease mondo DOID:0080264|OMIM:617572|UMLS:CN321863 http://identifiers.org/omim/617572|DOID:0080264|UMLS:CN321863 http://purl.obolibrary.org/obo/MONDO_0033123 EVR7|exudative vitreoretinopathy 7; EVR7 HGNC:12771 CCN6 biolink:OntologyClass mondo http://identifiers.org/hgnc/12771 CL:0000817 precursor B cell biolink:Cell mondo BTO:0001133|CALOHA:TS-0819 A precursor B cell is a B cell with the phenotype CD10-positive. http://purl.obolibrary.org/obo/CL_0000817 pre-B cell CL:0000818 transitional stage B cell biolink:Cell mondo An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. http://purl.obolibrary.org/obo/CL_0000818 transitional B cell|transitional stage B-lymphocyte|T1 B cell|T2 B cell|T3 B cell|transitional stage B-cell|transitional stage B lymphocyte CL:0000819 B-1 B cell biolink:Cell mondo A B cell of distinct lineage and surface marker expression. B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas. These cells are CD43-positive. http://purl.obolibrary.org/obo/CL_0000819 B1 B-cell|B1 B lymphocyte|B-1 cell|B1 B-lymphocyte|B-1 B-cell|B-1 B lymphocyte|B-1 B-lymphocyte|B1 cell|B1 B cell MONDO:0060729 protoporphyria, erythropoietic, 2 biolink:Disease mondo OMIM:618015|UMLS:CN248523 http://identifiers.org/omim/618015|UMLS:CN248523 http://purl.obolibrary.org/obo/MONDO_0060729 EPP2|protoporphyria, erythropoietic, 2; EPP2 MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 biolink:Disease mondo OMIM:618010|UMLS:CN248527 UMLS:CN248527|http://identifiers.org/omim/618010 http://purl.obolibrary.org/obo/MONDO_0060724 GPIBD17|glycosylphosphatidylinositol biosynthesis defect 17; GPIBD17 MONDO:0021127 has a syndromic presentation biolink:Disease mondo An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features. http://purl.obolibrary.org/obo/MONDO_0021127 MONDO:0021126 syndromic or isolated biolink:Disease mondo An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. http://purl.obolibrary.org/obo/MONDO_0021126 CL:0000810 CD4-positive, alpha-beta thymocyte biolink:Cell mondo An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative. http://purl.obolibrary.org/obo/CL_0000810 CD4-positive, alpha-beta immature T-cell|CD4-positive, alpha-beta immature T lymphocyte|SP CD4 cell|CD4-positive, alpha-beta immature T-lymphocyte MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension biolink:Disease mondo UMLS:C1833688|MESH:C563478|OMIM:166990|GARD:0002277 UMLS:C1833688|http://identifiers.org/omim/166990|MESH:C563478 http://purl.obolibrary.org/obo/MONDO_0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension|osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension MONDO:0021125 disease characteristic biolink:Disease mondo NCIT:C41009 An attribute of a disease. NCIT:C41009 http://purl.obolibrary.org/obo/MONDO_0021125 qualifier|disease qualifier|modifier MONDO:0060722 obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0060722 CL:0000811 CD8-positive, alpha-beta thymocyte biolink:Cell mondo An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative. http://purl.obolibrary.org/obo/CL_0000811 CD8-positive, alpha-beta immature T-cell|CD8-positive, alpha-beta immature T lymphocyte|CD8-positive, alpha-beta immature T cell|SP CD8 cell|CD8-positive, alpha-beta immature T-lymphocyte MONDO:0021124 female infertility biolink:Disease mondo SCTID:6738008|MESH:D007247|UMLS:C0341869|ICD9:628.9|COHD:201909|ICD9:628.8|EFO:0008560|ICD10:N97 Diminished or absent ability of a female to achieve conception. MESH:D007247|SNOMEDCT:6738008|UMLS:C0341869 http://purl.obolibrary.org/obo/MONDO_0021124 female sterility|female sub-fertility|postpartum sterility|female infertility|female reproductive system infertility disorder|female reproductive system infertility|female subfertility|sub-fertility, female|sterility, female|sterility, postpartum|infertility disorder of female reproductive system|subfertility, female|sub fertility, female MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone biolink:Disease mondo NCIT:C35871|UMLS:C1333481 A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. NCIT:C35871|UMLS:C1333481 http://purl.obolibrary.org/obo/MONDO_0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone|bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor|Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0008167 dermoid cyst of ovary biolink:Disease mondo DOID:5117|NCIT:C3856|OMIM:166950|MESH:C562731|UMLS:C0237020 A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral. UMLS:C0237020|NCIT:C3856|DOID:5117|http://identifiers.org/omim/166950|MESH:C562731 http://purl.obolibrary.org/obo/MONDO_0008167 dermoid cyst, ovarian|dermoid cyst of the ovary|dermoid cyst of ovary|dermoid cyst|ovarian dermoid cyst|teratoma, ovarian|ovary dermoid cyst|dermoid cyst (& [ovarian]) MONDO:0060720 congenital disorder of glycosylation with defective fucosylation biolink:Disease mondo OMIMPS:618005|UMLS:CN248517 UMLS:CN248517 http://purl.obolibrary.org/obo/MONDO_0060720 congenital disorder of glycosylation with defective fucosylation; CDGF|CDGF MONDO:0008168 ovarian fibroma (disease) biolink:Disease mondo OMIM:166970|NCIT:C3498|SCTID:254865006|ICD10:D27|MESH:C562391|MedDRA:10064257|UMLS:C0149951|Orphanet:314473|HP:0010618 A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts. SNOMEDCT:254865006|MEDDRA:10064257|http://identifiers.org/omim/166970|ORPHA:314473|MESH:C562391|NCIT:C3498|UMLS:C0149951 http://purl.obolibrary.org/obo/MONDO_0008168 fibroma of the ovary|fibroma of ovary|ovarian fibromata|ovarian fibroma ordo_disease MONDO:0021122 obsolete small cell neuroendocrine carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021122 MONDO:0021121 hemangioendothelioma biolink:Disease mondo GARD:0006557|NCIT:C3084|ICDO:9130/1|UMLS:C0018915|SCTID:403980002|MESH:D006390 A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics. SNOMEDCT:403980002|MESH:D006390|UMLS:C0018915|NCIT:C3084 http://purl.obolibrary.org/obo/MONDO_0021121 hemangioendothelioma|angioendothelioma MONDO:0008165 southeast Asian ovalocytosis biolink:Disease mondo UMLS:C1833690|UMLS:C1862323|Orphanet:98868|OMIM:166900|SCTID:191169008|ICD10:D58.1|ICD9:282.1 Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. UMLS:C1833690|SNOMEDCT:191169008|ORPHA:98868|http://identifiers.org/omim/166900|UMLS:C1862323 http://purl.obolibrary.org/obo/MONDO_0008165 Melanesian ovalocytosis|elliptocytosis, stomatocytic hereditary|hereditary ovalocytosis|ovalocytosis, southeast Asian; sao|sao|ovalocytosis, hereditary hemolytic|he, stomatocytic|Melanesian elliptocytosis|ovalocytosis, southeast Asian|elliptocytosis 4|ovalocytosis, Malaysian-Melanesian-Filipino type|stomatocytic elliptocytosis ordo_disease MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis biolink:Disease mondo MESH:C563479|UMLS:C1833689|OMIM:166910 UMLS:C1833689|http://identifiers.org/omim/166910|MESH:C563479 http://purl.obolibrary.org/obo/MONDO_0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis MONDO:0021120 functioning endocrine neoplasm biolink:Disease mondo ICDO:8158/1|UMLS:C2986655|NCIT:C94759 A hormone producing endocrine neoplasm, associated with a hormonal syndrome. UMLS:C2986655|NCIT:C94759 http://purl.obolibrary.org/obo/MONDO_0021120 functioning endocrine neoplasm|functioning tumor CL:0000816 immature B cell biolink:Cell mondo An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. http://purl.obolibrary.org/obo/CL_0000816 newly formed B cell|immature B-cell|immature B lymphocyte|immature B-lymphocyte MONDO:0008163 otofaciocervical syndrome biolink:Disease mondo GARD:0004169|ICD10:Q87.0|UMLS:C1833691|OMIMPS:166780|Orphanet:2792|DC:0000698 Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. ORPHA:2792|UMLS:C2931416|UMLS:C1833691 http://purl.obolibrary.org/obo/MONDO_0008163 Fara-Chlupackova syndrome|OFC syndrome prototype_pattern|ordo_malformation_syndrome MONDO:0008164 OTSC1 biolink:Disease mondo UMLS:CN032031|OMIM:166800 http://identifiers.org/omim/166800|UMLS:CN032031 http://purl.obolibrary.org/obo/MONDO_0008164 OTSC1|OTS|otosclerosis 1; OTSC1|otosclerosis 1 HGNC:12786 WNT7A biolink:OntologyClass mondo http://identifiers.org/hgnc/12786 MONDO:0008161 otodental syndrome biolink:Disease mondo Orphanet:2791|OMIM:166750|GARD:0004168|ICD10:K00.2|SCTID:707310009|UMLS:C1833693 Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. ORPHA:2791|http://identifiers.org/omim/166750|SNOMEDCT:707310009|UMLS:C1833693 http://purl.obolibrary.org/obo/MONDO_0008161 otodental syndrome|oculootodental syndrome|otodental syndrome with coloboma|otodental dysplasia|chromosome 11q13 deletion syndrome|globodontia ordo_malformation_syndrome MONDO:0008162 otitis media, susceptibility to biolink:Disease mondo OMIM:166760 http://identifiers.org/omim/166760 http://purl.obolibrary.org/obo/MONDO_0008162 OMS|otitis Media, chronic/recurrent|come/Rom|otitis media, susceptibility to predisposition HGNC:12784 WNT5A biolink:OntologyClass mondo http://identifiers.org/hgnc/12784 MONDO:0021119 non-functioning endocrine neoplasm biolink:Disease mondo NCIT:C94760|UMLS:C2986656 A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome. NCIT:C94760|UMLS:C2986656 http://purl.obolibrary.org/obo/MONDO_0021119 non-functioning endocrine neoplasm|nonfunctioning tumor|nonfunctional Endocrine neoplasm|endocrine-inactive tumor MONDO:0008160 osteosclerosis with ichthyosis and fractures biolink:Disease mondo UMLS:C1833697|MESH:C563483|OMIM:166740 http://identifiers.org/omim/166740|MESH:C563483|UMLS:C1833697 http://purl.obolibrary.org/obo/MONDO_0008160 osteosclerosis with ichthyosis and fractures|cortical thickening of long bones with bowing and ichthyosis MONDO:0021118 intestinal neoplasm biolink:Disease mondo NCIT:C3141|DOID:4610|ONCOTREE:BOWEL|SCTID:126769007 A benign or malignant neoplasm involving the small or large intestine. DOID:4610|NCIT:C3141|SNOMEDCT:126769007 http://purl.obolibrary.org/obo/MONDO_0021118 intestinal tumor|tumor of intestine|bowel neoplasm|intestinal neoplasms|intestinal benign neoplasm|tumor of intestines|tumor of the intestines|intestine neoplasm|intestinal neoplasm|neoplasm of intestine|intestine tumor|intestinal tumors|intestine growth|neoplasm of intestinal tract|neoplasm of intestines|intestine neoplasm (disease)|neoplasm of the intestines MONDO:0021117 lung neoplasm biolink:Disease mondo NCIT:C3200|ONCOTREE:LUNG|MESH:D008175 A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. MESH:D008175|NCIT:C3200 http://purl.obolibrary.org/obo/MONDO_0021117 lung tumor|tumor of the lung|neoplasms, pulmonary|neoplasms, lung|lung neoplasm|lung neoplasm (disease)|tumor of lung|lung|neoplasm, lung|neoplasm of the lung|lung neoplasms|neoplasm, pulmonary|neoplasm of lung UBERON_CORE:posteriorly_connected_to posteriorly connected to biolink:OntologyClass mondo x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to HGNC:12783 WNT4 biolink:OntologyClass mondo http://identifiers.org/hgnc/12783 MONDO:0033135 PMP2-related Charcot-Marie-Tooth disease type 1 biolink:Disease mondo OMIM:618279|Orphanet:476394 A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. ORPHA:476394|http://identifiers.org/omim/618279 http://purl.obolibrary.org/obo/MONDO_0033135 ordo_disease HGNC:12782 WNT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/12782 MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures biolink:Disease mondo OMIM:618088 http://identifiers.org/omim/618088 http://purl.obolibrary.org/obo/MONDO_0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; NEDAMSS|NEDAMSS MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits biolink:Disease mondo OMIM:618087 http://identifiers.org/omim/618087 http://purl.obolibrary.org/obo/MONDO_0060758 SCA42ND|spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits; SCA42ND MONDO:0008138 syndromic orbital border hypoplasia biolink:Disease mondo MESH:C563490|SCTID:717337001|Orphanet:98606|UMLS:C4273912|UMLS:C1833795|OMIM:165600 Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. SNOMEDCT:717337001|UMLS:C1833795|UMLS:C4273912|ORPHA:98606|http://identifiers.org/omim/165600|MESH:C563490 http://purl.obolibrary.org/obo/MONDO_0008138 Urrets-Zavalia syndrome|orbital margin, hypoplasia OF ordo_malformation_syndrome MONDO:0021116 luminal A breast carcinoma biolink:Disease mondo UMLS:C3642345|NCIT:C53554 A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. UMLS:C3642345|NCIT:C53554 http://purl.obolibrary.org/obo/MONDO_0021116 Luminal A breast cancer|Luminal A breast carcinoma|Luminal A|Luminal A estrogen receptor positive subtype of breast carcinoma|Luminal A subtype of breast carcinoma MONDO:0008139 OSLAM syndrome biolink:Disease mondo OMIM:165660|Orphanet:2760|MESH:C537138|ICD10:C41.9|UMLS:C1833792|GARD:0004129|SCTID:733064004 OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. UMLS:C1833792|MESH:C537138|ORPHA:2760|SNOMEDCT:733064004|http://identifiers.org/omim/165660 http://purl.obolibrary.org/obo/MONDO_0008139 OSLAM syndrome|osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow|osteosarcoma, limb anomalies, and macrocytosis|osteosarcoma-limb anomalies-erythroid macrocytosis syndrome|osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia ordo_malformation_syndrome MONDO:0021115 luminal B breast carcinoma biolink:Disease mondo NCIT:C53555|UMLS:C3642346 A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype. UMLS:C3642346|NCIT:C53555 http://purl.obolibrary.org/obo/MONDO_0021115 Luminal B breast cancer|Luminal B|Luminal B breast carcinoma|Luminal B subtype of breast carcinoma|Luminal B estrogen receptor positive subtype of breast carcinoma MONDO:0011789 familial meningioma biolink:Disease mondo UMLS:C1333989|MESH:C537443|DOID:4586|OMIM:607174|NCIT:C5301 A meningioma that is transmitted from the parents to an offspring. http://identifiers.org/omim/607174|MESH:C537443|UMLS:C1333989|DOID:4586|NCIT:C5301 http://purl.obolibrary.org/obo/MONDO_0011789 hereditary meningioma (disease)|familial meningioma|susceptibility to familial meningioma|meningioma, familial, susceptibility to|hereditary meningioma MONDO:0008136 isolated optic nerve hypoplasia biolink:Disease mondo OMIM:165550|UMLS:C1833797|SCTID:724999003|GARD:0008419|ICD10:H47.0|Orphanet:137902|UMLS:C4510723 UMLS:C4510723|SNOMEDCT:724999003|UMLS:C1833797|ORPHA:137902|http://identifiers.org/omim/165550 http://purl.obolibrary.org/obo/MONDO_0008136 optic nerve hypoplasia, familial bilateral|familial bilateral optic nerve hypoplasia|optic nerve aplasia, bilateral|optic nerve hypoplasia, bilateral|isolated optic nerve hypoplasia/aplasia ordo_disease MONDO:0021114 Bartholin gland neoplasm biolink:Disease mondo NCIT:C6434 A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. NCIT:C6434 http://purl.obolibrary.org/obo/MONDO_0021114 neoplasm of the Bartholin's gland|neoplasm of Bartholin's gland|Bartholin's gland tumor|major vestibular gland neoplasm|neoplasm of major vestibular gland|major vestibular gland tumor|tumor of the Bartholin's gland|Bartholin's gland neoplasm|tumor of Bartholin's gland|Bartholin gland neoplasm|major vestibular gland neoplasm (disease)|tumor of major vestibular gland MONDO:0021113 respiratory failure biolink:Disease mondo DOID:11162|ICD10:J96.0|NCIT:C26872|SCTID:39871006|MESH:D012131|ICD9:518.81|UMLS:C1145670|ICD9:518.83 The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. MESH:D012131|UMLS:C1145670|DOID:11162|NCIT:C26872|SNOMEDCT:39871006 http://purl.obolibrary.org/obo/MONDO_0021113 acute respiratory failure|respiratory failure|respiratory insufficiency/failure|acute-on-chronic respiratory failure|chronic respiratory failure|failure, respiratory|acute and chronic respiratory failure MONDO:0008137 orofaciodigital syndrome X biolink:Disease mondo UMLS:C1833796|Orphanet:2756|MESH:C563491|DOID:0060380|GARD:0004061|OMIM:165590|SCTID:722075004|ICD10:Q87.0 Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. UMLS:C1833796|SNOMEDCT:722075004|ORPHA:2756|http://identifiers.org/omim/165590|DOID:0060380|MESH:C563491 http://purl.obolibrary.org/obo/MONDO_0008137 oral-facial-digital syndrome type 10|orofaciodigital syndrome 10|oral facial digital syndrome 10|oral-facial-digital syndrome 10|Figuera syndrome|orofaciodigital syndrome type Figuera|orofaciodigital syndrome type X|oral facial digital syndrome type 10|oral-Facial-digital syndrome with fibular aplasia|orofaciodigital syndrome type 10|Ofds 10|OFD10|orofaciodigital syndrome with fibular aplasia|OFD syndrome 10|oral-Facial-digital syndrome, type 10|orofaciodigital syndrome X; OFD10|orofaciodigital syndrome X ordo_malformation_syndrome|gard_rare HP:0002912 Methylmalonic acidemia biolink:PhenotypicFeature mondo SNOMEDCT_US:42393006|MSH:C537358|UMLS:C0268583 Increased concentration of methylmalonic acid in the blood. http://purl.obolibrary.org/obo/HP_0002912 Elevated circulating methylmalonic acid concentration MONDO:0008134 autosomal dominant optic atrophy, classic form biolink:Disease mondo ICD10:H47.2|GARD:0009890|Orphanet:98673|SCTID:717336005|UMLS:CN207069|OMIM:165500 Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects. SNOMEDCT:717336005|ORPHA:98673|UMLS:CN207069|http://identifiers.org/omim/165500 http://purl.obolibrary.org/obo/MONDO_0008134 optic atrophy type 1|OAK|optic atrophy 1; OPA1|optic atrophy, juvenile|OPA1|optic atrophy, Kjer type|Kjer optic atrophy|autosomal dominant optic atrophy, Kjer type|optic atrophy 1|Kjer-type optic atrophy ordo_disease MONDO:0021112 scrotum cancer biolink:Disease mondo NCIT:C3560|SCTID:363454002|ICD9:187.7|UMLS:C0153604 A primary or metastatic malignant neoplasm affecting the scrotum. UMLS:C0153604|NCIT:C3560|SNOMEDCT:363454002 http://purl.obolibrary.org/obo/MONDO_0021112 malignant scrotum neoplasm|cancer of scrotum|malignant scrotal tumor|malignant neoplasm of scrotum|malignant neoplasm of the scrotum|malignant tumor of the scrotum|scrotum cancer|malignant tumor of scrotum|malignant scrotal neoplasm HP:0002917 Hypomagnesemia biolink:PhenotypicFeature mondo SNOMEDCT_US:190855004|UMLS:C0151723 An abnormally decreased magnesium concentration in the blood. http://purl.obolibrary.org/obo/HP_0002917 Low blood magnesium levels|Low blood Mg levels MONDO:0008135 optic atrophy with negative Electroretinograms biolink:Disease mondo OMIM:165510|UMLS:C1833799|MESH:C563494 UMLS:C1833799|http://identifiers.org/omim/165510|MESH:C563494 http://purl.obolibrary.org/obo/MONDO_0008135 optic atrophy with negative Electroretinograms MONDO:0021111 ureter neoplasm biolink:Disease mondo ICD9:239.5|SCTID:126882009|NCIT:C3427|EFO:0003844 A benign or malignant neoplasm that affects the ureter. SNOMEDCT:126882009|NCIT:C3427 http://purl.obolibrary.org/obo/MONDO_0021111 neoplasms of ureter|ureter neoplasm|neoplasms of the ureter|tumor of ureter|neoplasm of the ureter|ureter neoplasm (disease)|ureteral tumor|ureteral neoplasm|neoplasm of ureter|ureter tumor|tumor of the ureter MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth biolink:Disease mondo OMIM:618076 http://identifiers.org/omim/618076 http://purl.obolibrary.org/obo/MONDO_0060752 neurodevelopmental disorder with spasticity and poor growth; NEDSG|NEDSG MONDO:0021110 sweat gland adenoma biolink:Disease mondo NCIT:C7560|ICDO:8400/0 A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma. NCIT:C7560 http://purl.obolibrary.org/obo/MONDO_0021110 adenoma of the sweat gland|adenoma of sweat gland|sweat gland adenoma|adenoma, sweat gland, benign MONDO:0008132 optic atrophy with demyelinating disease of CNS biolink:Disease mondo OMIM:165200|UMLS:C1833830|MESH:C563496 UMLS:C1833830|http://identifiers.org/omim/165200|MESH:C563496 http://purl.obolibrary.org/obo/MONDO_0008132 optic atrophy with demyelinating disease of CNS MONDO:0008133 optic atrophy 3 biolink:Disease mondo OMIM:165300|ICD10:H47.2|GARD:0010203|MESH:C537128|Orphanet:67036|SCTID:719517009|UMLS:C1833809 MESH:C537128|UMLS:C1833809|SNOMEDCT:719517009|http://identifiers.org/omim/165300|ORPHA:67036 http://purl.obolibrary.org/obo/MONDO_0008133 optic atrophy, cataract, and neurologic disorder|optic atrophy 3|optic atrophy 3, autosomal dominant|optic atrophy 3, autosomal dominant; OPA3|autosomal dominant optic atrophy type 3|optic atrophy and cataract, autosomal dominant|OPA3|OPA3, autosomal dominant|optic atrophy 3 with cataract gard_rare|ordo_disease MONDO:0011793 CELIAC5 biolink:Disease mondo OMIM:607202 http://identifiers.org/omim/607202 http://purl.obolibrary.org/obo/MONDO_0011793 GSES|celiac disease, susceptibility to, 5; CELIAC5|celiac disease, susceptibility to, 5|CELIAC5|gluten-sensitive enteropathy, susceptibility to, 5 predisposition MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome biolink:Disease mondo OMIM:165150|MESH:C563498|UMLS:C1833835|Orphanet:2743|GARD:0003236 UMLS:C1833835|ORPHA:2743|http://identifiers.org/omim/165150|MESH:C563498 http://purl.obolibrary.org/obo/MONDO_0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome|ophthalmoplegia, progressive, with scrotal tongue and mental deficiency|Levic-Stefanovic-Nikolic syndrome|Levic Stefanovic Nikolic syndrome gard_rare|ordo_malformation_syndrome MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities biolink:Disease mondo OMIM:618089 http://identifiers.org/omim/618089 http://purl.obolibrary.org/obo/MONDO_0060760 IDDFBA|INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities; IDDFBA MONDO:0011792 thyroid dyshormonogenesis 6 biolink:Disease mondo UMLS:C1846632|MESH:C564608|OMIM:607200 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene. MESH:C564608|UMLS:C1846632|http://identifiers.org/omim/607200 http://purl.obolibrary.org/obo/MONDO_0011792 thyroid dyshormonogenesis 6; TDH6|TDH6|thyroid dyshormonogenesis 6|DUOX2 familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 6|familial thyroid dyshormonogenesis caused by mutation in DUOX2|thyroid dyshormonogenesis type 6|hypothyroidism, congenital, due to dyshormonogenesis, 6 MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant biolink:Disease mondo OMIM:165199|UMLS:C1833831|MESH:C563497 UMLS:C1833831|http://identifiers.org/omim/165199|MESH:C563497 http://purl.obolibrary.org/obo/MONDO_0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant MONDO:0011795 anonychia-microcephaly syndrome biolink:Disease mondo OMIM:607214|SCTID:720494009|GARD:0000709|Orphanet:1094|ICD10:Q87.8 Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth. SNOMEDCT:720494009|MESH:C536948|UMLS:C2931373|ORPHA:1094|http://identifiers.org/omim/607214 http://purl.obolibrary.org/obo/MONDO_0011795 total anonychia congenita and microcephaly|anonychia, total, with microcephaly|Teebi-Kaurah syndrome|anonychia total with microcephaly|total anonychia with microcephaly gard_rare|ordo_malformation_syndrome MONDO:0011794 obsolete Dravet syndrome biolink:Disease mondo Orphanet:33069|ICD10:G40.4 Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. ORPHA:33069 http://purl.obolibrary.org/obo/MONDO_0011794 epileptic encephalopathy, early infantile, 6; EIEE6|epileptic encephalopathy, early infantile, type 6|severe myoclonus epilepsy of infancy|EIEE6|DS|SMEI|severe myoclonic epilepsy in infancy|epileptic encephalopathy, early infantile, 6|severe myoclonic epilepsy of infancy ordo_disease MONDO:0011797 infantile-onset ascending hereditary spastic paralysis biolink:Disease mondo UMLS:C2931441|MESH:C537217|OMIM:607225|ICD9:343.8|SCTID:703543005|ICD10:G12.2|GARD:0004914|Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria. http://identifiers.org/omim/607225|ORPHA:293168|UMLS:C2931441|SNOMEDCT:703543005|MESH:C537217 http://purl.obolibrary.org/obo/MONDO_0011797 spastic paralysis, infantile-onset ascending; IAHSP|spastic paralysis, infantile-onset ascending|spastic paralysis, infantile onset ascending|IAHSP ordo_disease|gard_rare MONDO:0021109 inverted urothelial papilloma biolink:Disease mondo NCIT:C6192|UMLS:C1334282|ONCOTREE:IUP An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. UMLS:C1334282|NCIT:C6192 http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma|urothelium inverted papilloma|IUP|urinary tract inverted papilloma|inverted papilloma of urinary tract MONDO:0021108 meningitis (disease) biolink:Disease mondo SCTID:7180009|ICD9:322.9|NCIT:C26828|COHD:435785 A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. SNOMEDCT:7180009|NCIT:C26828 http://purl.obolibrary.org/obo/MONDO_0021108 inflammation of meninx|meningitis|meninx inflammation MONDO:0011796 PEPS biolink:Disease mondo UMLS:C1846609|MESH:C564605|OMIM:607221 MESH:C564605|UMLS:C1846609|http://identifiers.org/omim/607221 http://purl.obolibrary.org/obo/MONDO_0011796 Epps|epilepsy, partial, with pericentral spikes; PEPS|PEPS|epilepsy, partial, with pericentral spikes MONDO:0011799 autosomal recessive nonsyndromic deafness 33 biolink:Disease mondo ICD10:H90.3|OMIM:607239|MESH:C564602|UMLS:C1846576|DOID:0110492 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1. http://identifiers.org/omim/607239|DOID:0110492|MESH:C564602|UMLS:C1846576 http://purl.obolibrary.org/obo/MONDO_0011799 DFNB33|autosomal recessive deafness 33|autosomal recessive nonsyndromic deafness type 33|deafness, autosomal recessive 33; DFNB33|deafness, autosomal recessive 33 MONDO:0021107 narcolepsy biolink:Disease mondo MESH:D009290|SCTID:60380001|ICD9:347.00|DOID:8986|NCIT:C84489|UMLS:C0027404|OMIMPS:161400 A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. UMLS:C0027404|DOID:8986|MESH:D009290|SNOMEDCT:60380001|NCIT:C84489 http://purl.obolibrary.org/obo/MONDO_0021107 narcolepsy, without cataplexy|narcolepsy|paroxysmal sleep MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration biolink:Disease mondo Orphanet:157855|OMIM:607236|MESH:C564603|UMLS:C1846582 http://identifiers.org/omim/607236|MESH:C564603|ORPHA:157855|UMLS:C1846582 http://purl.obolibrary.org/obo/MONDO_0011798 harp syndrome|hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration MONDO:0021106 laminopathy biolink:Disease mondo Orphanet:98301|UMLS:CN236383 A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. ORPHA:98301|UMLS:CN236383 http://purl.obolibrary.org/obo/MONDO_0021106 ordo_group_of_disorders MONDO:0011791 obsolete deafness, autosomal recessive biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011791 MONDO:0011790 Amish lethal microcephaly biolink:Disease mondo MESH:C538247|UMLS:C1846648|ICD10:Q02|OMIM:607196|Orphanet:99742|GARD:0008606|SCTID:702437000 Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. SNOMEDCT:702437000|UMLS:C1846648|MESH:C538247|ORPHA:99742|http://identifiers.org/omim/607196 http://purl.obolibrary.org/obo/MONDO_0011790 MCPHA|microcephaly, Amish type; MCPHA|Amish lethal microcephaly|microcephaly, Amish type|thiamine metabolism dysfunction syndrome 3 (microcephaly type) ordo_malformation_syndrome|gard_rare MONDO:0021105 NAFLD1 biolink:Disease mondo OMIM:613282 http://identifiers.org/omim/613282 http://purl.obolibrary.org/obo/MONDO_0021105 fatty liver disease, nonalcoholic, susceptibility to, 1; NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1|liver disease, alcoholic, susceptibility to, 1|NAFLD1 predisposition MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities biolink:Disease mondo OMIM:607132|MESH:C564620|UMLS:C1846721 UMLS:C1846721|http://identifiers.org/omim/607132|MESH:C564620 http://purl.obolibrary.org/obo/MONDO_0011779 Lel|laryngeal atresia, encephalocele, and limb deformities MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures biolink:Disease mondo ICD10:Q78.0|MESH:C563487|OMIM:166230|UMLS:C1833748|DOID:0110335 An osteogenesis imperfecta found in a single South African family. UMLS:C1833748|http://identifiers.org/omim/166230|DOID:0110335|MESH:C563487 http://purl.obolibrary.org/obo/MONDO_0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type biolink:Disease mondo Orphanet:166024|MESH:C564621|SCTID:719688002|ICD10:Q77.3|OMIM:607131 Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. http://identifiers.org/omim/607131|MESH:C564621|SNOMEDCT:719688002|ORPHA:166024 http://purl.obolibrary.org/obo/MONDO_0011778 multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|AGBK|AL-Gazali-BAKALINOVA syndrome; AGBK|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|Mmedf|Al-Gazali-Bakalinova syndrome ordo_disease MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia biolink:Disease mondo UMLS:CN252646|OMIM:618060 http://identifiers.org/omim/618060|UMLS:CN252646 http://purl.obolibrary.org/obo/MONDO_0060745 IDDECA|intellectual developmental disorder with or without epilepsy or cerebellar ataxia; IDDECA MONDO:0021104 alcoholic fatty liver disease biolink:Disease mondo COHD:193256|UMLS:C0015696|MESH:D005235|SCTID:50325005|UMLS:C2718067|ICD9:571.0 Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated. UMLS:C0015696|UMLS:C2718067|MESH:D005235|SNOMEDCT:50325005 http://purl.obolibrary.org/obo/MONDO_0021104 alcoholic fatty liver|alcoholic Steatohepatitis MONDO:0021103 obsolete collagen diseases biolink:Disease mondo UMLS:C0009326|ICD9:710.9|SCTID:81573002|DOID:854|ICD9:710.8|MESH:D003095 Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) UMLS:C0009326|SNOMEDCT:81573002|DOID:854|MESH:D003095 http://purl.obolibrary.org/obo/MONDO_0021103 collagen disorder|disease, collagen|collagen disease|diseases, collagen MONDO:0008147 osteogenesis imperfecta type 2 biolink:Disease mondo GARD:0010142|MESH:C536042|DOID:0110341|UMLS:CN536250|NCIT:C99001|OMIM:166210|ICD10:Q78.0|Orphanet:216804|SCTID:86470003 Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. ORPHA:216804|http://identifiers.org/omim/166210|MESH:C536042|NCIT:C99001|DOID:0110341|UMLS:CN536250|SNOMEDCT:86470003 http://purl.obolibrary.org/obo/MONDO_0008147 osteogenesis imperfecta congenita|osteogenesis imperfecta type II|Vrolik type of osteogenesis imperfecta|osteogenesis imperfecta, type II; OI2|perinatal lethal osteogenesis imperfecta congenita|osteogenesis imperfecta, type 2|OI, type 2|OI2|osteogenesis imperfecta, type II|lethal osteogenesis imperfecta|OI type 2|osteogenesis imperfecta congenita, perinatal lethal form|Perinatally lethal OI|osteogenesis imperfecta congenita perinatal lethal form ordo_clinical_subtype MONDO:0008148 osteogenesis imperfecta type 4 biolink:Disease mondo SCTID:205497004|NCIT:C98576|DOID:0110340|Orphanet:216820|ICD10:Q78.0|GARD:0008696|OMIM:166220|MESH:C536045|UMLS:C0268363 Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI). SNOMEDCT:205497004|UMLS:C0268363|ORPHA:216820|http://identifiers.org/omim/166220|MESH:C536045|DOID:0110340|NCIT:C98576 http://purl.obolibrary.org/obo/MONDO_0008148 common variable OI with normal sclerae|osteogenesis imperfecta, type IV; OI4|osteogenesis imperfecta with normal sclera|osteogenesis imperfecta type IV|OI type 4|osteogenesis imperfecta, type 4|OI, type 4|osteogenesis imperfecta with normal sclerae|OI type IV|OI4|osteogenesis imperfecta, type IV ordo_clinical_subtype MONDO:0021102 prostate phyllodes tumor biolink:Disease mondo Orphanet:498228|NCIT:C7574|GARD:0009404|UMLS:C1335409 An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma. NCIT:C7574|ORPHA:498228|UMLS:C1335409 http://purl.obolibrary.org/obo/MONDO_0021102 cystosarcoma phyllodes of the prostate|malignant phyllodes tumor of prostate (subtype)|phyllodes tumor of prostate|phyllodes neoplasm of prostate|phyllodes neoplasm of the prostate|prostate phyllodes neoplasm|prostate gland phyllodes tumor|phyllodes tumor of the prostate|cystosarcoma phyllodes of prostate|prostate cystosarcoma phyllodes|prostate phyllodes tumor ordo_disease MONDO:0008145 Ollier disease biolink:Disease mondo UMLS:C0014084|UMLS:CN203308|GARD:0007251|MedDRA:10014642|DOID:4624|UMLS:C0206641|Orphanet:296|ICD10:Q78.4|OMIM:166000|SCTID:268274005|NCIT:C3008 Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. MESH:D004687|UMLS:CN203308|UMLS:C0014084|http://identifiers.org/omim/166000|ORPHA:296|DOID:4624|UMLS:C0206641|SNOMEDCT:268274005|MEDDRA:10014642|NCIT:C3008 http://purl.obolibrary.org/obo/MONDO_0008145 enchondromatosis, multiple, Ollier type|enchondromatosis with haemangiomata|osteochondromatosis|Ollier's disease|multiple cartilaginous enchondroses|dyschondroplasia|enchondromatosis|multiple enchondromatosis|Ollier disease|enchondromatosis, multiple|Kast's syndrome ordo_disease|gard_rare MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor biolink:Disease mondo DOID:8151|UMLS:C3274138|NCIT:C27445 A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. NCIT:C27445|DOID:8151|UMLS:C3274138 http://purl.obolibrary.org/obo/MONDO_0021101 appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix|malignant appendiceal glucagonoma|appendix L-cell NET|appendix L-cell glucagon-like peptide-producing NET|malignant appendiceal L-cell glucagon-like peptide producing tumor|appendiceal L-cell glucagon-like peptide-producing NET|vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|appendiceal L-cell glucagon-like peptide producing tumor|appendix L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO:0008146 osteogenesis imperfecta type 1 biolink:Disease mondo Orphanet:216796|SCTID:385482004|OMIM:166200|NCIT:C99003|UMLS:CN201103|GARD:0008694|ICD10:Q78.0|UMLS:CN536249|DOID:0110334 Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. ORPHA:216796|SNOMEDCT:385482004|UMLS:CN201103|http://identifiers.org/omim/166200|NCIT:C99003|DOID:0110334|UMLS:CN536249 http://purl.obolibrary.org/obo/MONDO_0008146 osteogenesis imperfecta, type I|osteogenesis imperfecta, type I; OI1|OI type 1|Van der Hoeve syndrome|OI1|osteogenesis imperfecta tarda|osteogenesis imperfecta with blue sclerae|mild osteogenesis imperfecta|classic non-deforming OI with blue sclerae|OI, type 1|osteogenesis imperfecta, type 1|Adair-Dighton syndrome|osteogenesis imperfecta type I|non-deforming osteogenesis imperfecta ordo_clinical_subtype MONDO:0021100 breast neoplasm biolink:Disease mondo ICD9:239.3|COHD:81251|SCTID:126926005|NCIT:C2910|MESH:D001943|ONCOTREE:BREAST|UMLS:CN236627|EFO:0003869 A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males. NCIT:C2910|MESH:D001943|UMLS:CN236627|SNOMEDCT:126926005 http://purl.obolibrary.org/obo/MONDO_0021100 breast neoplasm (disease)|tumor of breast|neoplasm of the breast|breast neoplasm|neoplasm, breast|neoplasm of breast|breast tumor|tumor of the breast MONDO:0008143 osteoarthritis susceptibility 1 biolink:Disease mondo UMLS:C0029408|ICD9:715.90|SCTID:396275006|ICD9:715.98|OMIM:165720 Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene. http://identifiers.org/omim/165720|UMLS:C0029408|SNOMEDCT:396275006 http://purl.obolibrary.org/obo/MONDO_0008143 osteoarthritis caused by mutation in FRZB|osteoarthritis susceptibility 1; OS1|osteoarthritis susceptibility 1|Oa|osteoarthrosis|FRZB osteoarthritis|osteoarthritis susceptibility type 1|OS1|osteoarthritis of hip, female-specific, susceptibility to predisposition MONDO:0008144 obsolete osteochondritis dissecans biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008144 MONDO:0011782 angioid streaks biolink:Disease mondo OMIM:607140|EFO:1000805|MESH:D000793|MedDRA:10066191|DOID:13401|UMLS:C0002982 Small breaks in the elastin-filled tissue of the retina. MESH:D000793|DOID:13401|http://identifiers.org/omim/607140|UMLS:C0002982 http://purl.obolibrary.org/obo/MONDO_0011782 angioid streaks MONDO:0008141 ossicular malformations, familial biolink:Disease mondo GARD:0008184|OMIM:165680|UMLS:C1833790|MESH:C537142 UMLS:C1833790|MESH:C537142|http://identifiers.org/omim/165680 http://purl.obolibrary.org/obo/MONDO_0008141 familial middle ear ossicular anomalies|familial ossicular malformations|ossicular malformations, familial gard_rare HGNC:12765 FOXN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12765 MONDO:0008142 Thiemann disease, familial form biolink:Disease mondo SCTID:55166000|ICD9:716.84|GARD:0004131|Orphanet:3314|OMIM:165700|ICD10:M93.2|UMLS:C0264081|MESH:C537144 Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course. ORPHA:3314|MESH:C537144|UMLS:C0264081|http://identifiers.org/omim/165700|SNOMEDCT:55166000 http://purl.obolibrary.org/obo/MONDO_0008142 osteoarthropathy of fingers familial|Thiemann epiphyseal disease|Osteochondrosis of phalangeal epiphyses|aseptic necrosis of phalangeal epiphyses|THIEMANN disease|osteochondritis of phalangeal epiphyses|Thiemann's disease|osteoarthropathy of fingers, familial ordo_disease MONDO:0011781 spinocerebellar ataxia type 17 biolink:Disease mondo ICD10:G11.8|GARD:0010469|SCTID:719249005|UMLS:C1846707|MESH:C564616|DOID:0050967|Orphanet:98759|OMIM:607136 Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. ORPHA:98759|DOID:0050967|MESH:C564616|SNOMEDCT:719249005|UMLS:C1846707|http://identifiers.org/omim/607136 http://purl.obolibrary.org/obo/MONDO_0011781 SCA17|spinocerebellar ataxia type 17|SCA 17|HDL4|Huntington disease-like 4|spinocerebellar ataxia 17; SCA17|spinocerebellar ataxia 17|Huntington disease-like 4 ordo_disease MONDO:0011784 Moyamoya disease 2 biolink:Disease mondo OMIM:607151|MESH:C536992|UMLS:C1846689 Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene. http://identifiers.org/omim/607151|MESH:C536992|UMLS:C1846689 http://purl.obolibrary.org/obo/MONDO_0011784 Moyamoya disease caused by mutation in RNF213|Moyamoya disease type 2|Moyamoya disease 2; MYMY2|Moyamoya disease 2|MYMY2|RNF213 Moyamoya disease HGNC:12762 WFS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12762 MONDO:0011783 ALG12-CDG biolink:Disease mondo MESH:C535745|Orphanet:79324|UMLS:C2931001|SCTID:711155008|OMIM:607143|ICD10:E77.8|GARD:0009833|ICD9:271.8|NCIT:C126873 (22q13.33). ORPHA:79324|MESH:C535745|UMLS:C2931001|SNOMEDCT:711155008|NCIT:C126873|http://identifiers.org/omim/607143 http://purl.obolibrary.org/obo/MONDO_0011783 CDG syndrome type Ig|congenital disorder of glycosylation type Ig|CDG1G|CDGIg|CDG 1G|CDG Ig|congenital disorder of glycosylation type 1g|CDG-Ig|carbohydrate deficient glycoprotein syndrome type Ig|mannosyltransferase 8 deficiency|ALG12-congenital disorder of glycosylation|congenital disorder of glycosylation, type Ig; CDG1G|congenital disorder of glycosylation, type Ig|ALG12-CDG (CDG-Ig) ordo_disease MONDO:0008140 ossified ear cartilages biolink:Disease mondo MESH:C563488|OMIM:165670|UMLS:C1833791 UMLS:C1833791|http://identifiers.org/omim/165670|MESH:C563488 http://purl.obolibrary.org/obo/MONDO_0008140 ossified ear cartilages MONDO:0011786 allergic rhinitis biolink:Disease mondo EFO:0005854|COHD:257007|UMLS:C2607914|ICD9:477.8|DOID:4481|SCTID:61582004|NCIT:C79532|ICD9:477|HP:0003193|OMIM:607154|ICD9:477.9 Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. SNOMEDCT:61582004|http://identifiers.org/omim/607154|DOID:4481|NCIT:C79532|UMLS:C2607914 http://purl.obolibrary.org/obo/MONDO_0011786 hay fever|allergic form of rhinitis|atopic rhinitis|allergic rhinitis|pollenosis|seasonal allergic rhinitis|non-seasonal allergic rhinitis|Perenial allergic rhinitis|perennial allergic rhinitis|Alrh MONDO:0011785 hereditary spastic paraplegia 19 biolink:Disease mondo UMLS:C1846685|ICD10:G11.4|DOID:0110772|MESH:C536856|SCTID:763375003|Orphanet:100999|GARD:0009588|OMIM:607152 Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. http://identifiers.org/omim/607152|MESH:C536856|SNOMEDCT:763375003|DOID:0110772|ORPHA:100999|UMLS:C1846685 http://purl.obolibrary.org/obo/MONDO_0011785 spastic paraplegia 19|hereditary spastic paraplegia type 19|spastic paraplegia 19, autosomal dominant; SPG19|autosomal dominant spastic paraplegia 19|autosomal dominant spastic paraplegia type 19|spastic paraplegia 19, autosomal dominant|SPG19 ordo_disease HP:0002921 Abnormality of the cerebrospinal fluid biolink:PhenotypicFeature mondo UMLS:C0151583 An abnormality of the cerebrospinal fluid (CSF). http://purl.obolibrary.org/obo/HP_0002921 Abnormal CSF findings|Abnormality of the CSF MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome biolink:Disease mondo MESH:C564611|SCTID:717771007|ICD10:Q87.8|Orphanet:93267|UMLS:C1846671|OMIM:607161 This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. http://identifiers.org/omim/607161|SNOMEDCT:717771007|MESH:C564611|ORPHA:93267|UMLS:C1846671 http://purl.obolibrary.org/obo/MONDO_0011788 multiple congenital anomalies syndrome with cloverleaf skull ordo_malformation_syndrome MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I biolink:Disease mondo ICD10:G71.0|GARD:0012533|NCIT:C126739|Orphanet:34515|DOID:0110299|SCTID:718180000|OMIM:607155|MESH:C564612 Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported. http://identifiers.org/omim/607155|DOID:0110299|MESH:C564612|SNOMEDCT:718180000|NCIT:C126739|ORPHA:34515 http://purl.obolibrary.org/obo/MONDO_0011787 MDDGC5|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5|FKRP autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to FKRP deficiency|limb-girdle muscular dystrophy type 2I|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5|muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related|LGMD2I|muscular dystrophy limb-girdle type 2I|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5; MDDGC5|muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP|muscular dystrophy, limb-girdle, type 2I ordo_disease HGNC:12766 NSD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/12766 MONDO:0023757 meralgia paresthetica biolink:Disease mondo UMLS:C0152110|SCTID:85007004|MESH:C537458|GARD:0009417|ICD9:355.1 Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms. SNOMEDCT:85007004|MESH:C537458|UMLS:C0152110 http://purl.obolibrary.org/obo/MONDO_0023757 lateral femoral cutaneous nerve entrapment|lateral cutaneous femoral nerve of thigh syndrome|compression of lateral cutaneous femoral nerve of thigh|meralgia paraesthetica familial (type)|Bernhardt-Roth syndrome|entrapment of lateral cutaneous nerve of thigh|bernhardt's paresthesia|bernhardt-rot syndrome gard_rare MONDO:0011780 specific language impairment 3 biolink:Disease mondo UMLS:C1846719|OMIM:607134 UMLS:C1846719|http://identifiers.org/omim/607134 http://purl.obolibrary.org/obo/MONDO_0011780 specific language impairment quantitative trait locus on chromosome 13|specific language impairment 3|SLI3|specific language impairment 3; SLI3 MONDO:0021172 Timothy syndrome type 2 (disorder) biolink:Disease mondo UMLS:C4304347|SCTID:719907006 Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. UMLS:C4304347|SNOMEDCT:719907006 http://purl.obolibrary.org/obo/MONDO_0021172 Timothy syndrome, atypical type MONDO:0021171 Timothy syndrome type 1 (disorder) biolink:Disease mondo ICD9:759.89|SCTID:699256006 Classic form of Timothy syndrome, includes all features of generic. SNOMEDCT:699256006 http://purl.obolibrary.org/obo/MONDO_0021171 Timothy syndrome, classic type MONDO:0021170 obsolete amyotonia congenita biolink:Disease mondo GARD:0005798 http://purl.obolibrary.org/obo/MONDO_0021170 Oppenheim disease|amyotonia congenita|Oppenheim's disease gard_rare HP:0002979 Bowing of the legs biolink:PhenotypicFeature mondo MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755 A bending or abnormal curvature affecting a long bone of the leg. http://purl.obolibrary.org/obo/HP_0002979 Bowed legs|Bowed lower limbs|Bow-leggedness|Bow legs HP:0000315 Abnormality of the orbital region biolink:PhenotypicFeature mondo UMLS:C4025863 http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the eye region|Malformation of the orbital region of the face|Deformity of the orbital region of the face|Anomaly of the orbital region of the face|Abnormality of the region around the eyes HP:0002977 Aplasia/Hypoplasia involving the central nervous system biolink:PhenotypicFeature mondo UMLS:C4025665 Absence or underdevelopment of tissue in the central nervous system. http://purl.obolibrary.org/obo/HP_0002977 Absent/underdeveloped central nervous system tissue|Aplasia/Hypoplasia involving the CNS MONDO:0021179 proteostasis deficiencies biolink:Disease mondo UMLS:C2718001|MESH:D057165 Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. MESH:D057165|UMLS:C2718001 http://purl.obolibrary.org/obo/MONDO_0021179 disease, Protein Misfolding|proteopathic disease|Protein folding disorders|deficiency, Proteostasis|Proteostasis deficiency|disease, Protein folding|deficiencies, Proteostasis|Protein folding diseases|Protein Misfolding disease|proteinopathy|dysfunction, Proteostasis|Misfolding disorders, Protein|folding disease, Protein|diseases, Protein Misfolding|Misfolding diseases, Protein|Protein Misfolding diseases|Protein folding disease|disorder, Protein folding|folding disorder, Protein|Proteostasis dysfunction|disorders, Protein Misfolding|proteopathy|disorders, Protein folding|Protein folding disorder|folding disorders, Protein|disorder, Protein Misfolding|Proteostasis dysfunctions|dysfunctions, Proteostasis|Protein Misfolding disorders|diseases, Protein folding|Misfolding disorder, Protein|Protein Misfolding disorder|folding diseases, Protein|Misfolding disease, Protein HGNC:12726 VWF biolink:OntologyClass mondo http://identifiers.org/hgnc/12726 MONDO:0021178 injury biolink:Disease mondo NCIT:C3671|ICD10:S00.T98|EFO:0000546|COHD:440921|MESH:D014947 Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. NCIT:C3671|MESH:D014947 http://purl.obolibrary.org/obo/MONDO_0021178 injury|trauma|wound|traumatic injury other_hierarchy MONDO:0021177 autoimmune hepatitis type 3 biolink:Disease mondo SCTID:721713007|UMLS:C4303162 Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens. SNOMEDCT:721713007|UMLS:C4303162 http://purl.obolibrary.org/obo/MONDO_0021177 autoimmune hepatitis type 3 MONDO:0008198 parietal foramina with cleidocranial dysplasia biolink:Disease mondo ICD10:Q74.0|MESH:C566825|OMIM:168550|Orphanet:251290|UMLS:C1868597 Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. UMLS:C1868597|MESH:C566825|ORPHA:251290|http://identifiers.org/omim/168550 http://purl.obolibrary.org/obo/MONDO_0008198 cleidocranial dysplasia with parietal foramina|parietal foramina with cleidocranial dysplasia; PFMCCD|parietal foramina with cleidocranial dysplasia|parietal foramina with clavicular hypoplasia|PFMCCD|parietal foramina with cleidocranial dysostosis ordo_malformation_syndrome MONDO:0021176 autoimmune hepatitis type 2 biolink:Disease mondo SCTID:721712002|UMLS:C4303163 Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies. UMLS:C4303163|SNOMEDCT:721712002 http://purl.obolibrary.org/obo/MONDO_0021176 type 2 AIH|autoimmune hepatitis type 2 MONDO:0021175 herpetic vulvovaginitis biolink:Disease mondo ICD9:054.11|NCIT:C34697|SCTID:27420004|UMLS:C0019386 Infection of the vulva and the vagina caused by herpes simplex virus. NCIT:C34697|SNOMEDCT:27420004|UMLS:C0019386 http://purl.obolibrary.org/obo/MONDO_0021175 Herpetic vulvovaginitis|herpetic vulvovaginitis|Herpetic Vulvovaginitis MONDO:0008199 late-onset Parkinson disease biolink:Disease mondo UMLS:C3160718|OMIM:168600 UMLS:C3160718|http://identifiers.org/omim/168600 http://purl.obolibrary.org/obo/MONDO_0008199 park|Parkinson disease, late-onset|Parkinson disease, late-onset; PD|PD MONDO:0008196 parastremmatic dwarfism biolink:Disease mondo SCTID:722210007|Orphanet:2646|GARD:0004222|MESH:C537172|OMIM:168400|ICD10:Q87.1 Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. SNOMEDCT:722210007|http://identifiers.org/omim/168400|MESH:C537172|ORPHA:2646|UMLS:C1868616 http://purl.obolibrary.org/obo/MONDO_0008196 parastremmatic dwarfism|Parastremmatic dysplasia ordo_malformation_syndrome|gard_rare MONDO:0008197 parietal foramina 1 biolink:Disease mondo OMIM:168500 Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene. http://identifiers.org/omim/168500 http://purl.obolibrary.org/obo/MONDO_0008197 parietal foramina 1|foramina parietalia permagna|PFM1|parietal foramina 1; PFM1|cranium bifidum, hereditary|catlin Marks|parietal foramina caused by mutation in MSX2|PFM|parietal foramina|cranium bifidum occultum|MSX2 parietal foramina|parietal foramina, symmetric|parietal foramina; PFM HGNC:12731 WAS biolink:OntologyClass mondo http://identifiers.org/hgnc/12731 MONDO:0008194 Paramolar tubercle of bolk biolink:Disease mondo SCTID:78305006|OMIM:168200 http://identifiers.org/omim/168200|SNOMEDCT:78305006 http://purl.obolibrary.org/obo/MONDO_0008194 bolk cusp|Paramolar tubercle of bolk HP:0002970 Genu varum biolink:PhenotypicFeature mondo MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755 A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. http://purl.obolibrary.org/obo/HP_0002970 Genu vara|Outward bowing at knees|Genua vara|Outward bow-leggedness hposlim_core MONDO:0008195 paramyotonia congenita of Von Eulenburg biolink:Disease mondo ICD10:G71.1|SCTID:41574007|GARD:0007325|OMIM:168300|ICD9:359.29|NCIT:C122790|Orphanet:684 Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). http://identifiers.org/omim/168300|SNOMEDCT:41574007|NCIT:C122790|MESH:C538616|UMLS:C1868617|ORPHA:684 http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of VON Eulenburg; PMC|paramyotonia congenita of Von Eulenburg|Von Eulenburg paramyotonia congenita|Eulenburg disease|paramyotonia congenita|paralysis periodica Paramyotonica|paramyotonia congenita without cold paralysis|PMC|myotonia congenita intermittens ordo_disease MONDO:0008192 paragangliomas 1 biolink:Disease mondo GARD:0007324|OMIM:168000 Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene. http://identifiers.org/omim/168000 http://purl.obolibrary.org/obo/MONDO_0008192 glomus jugulare tumors|chemodectomas|SDHD paraganglioma|paragangliomas type 1|paragangliomas, familial nonchromaffin, 1|paragangliomas 1; PGL1|Paragangliomata|paragangliomas 1|paragangliomas with sensorineural hearing loss|paraganglioma caused by mutation in SDHD|paragangliomas, familial, 1|PGL1|glomus tumors, familial, 1|carotid body tumors|paraganglioma, carotid body HGNC:12736 WIPF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12736 MONDO:0008193 paralysis agitans, juvenile, of Hunt biolink:Disease mondo MESH:C562469|ICD9:333.0|GARD:0010359|SCTID:43647007|OMIM:168100 MESH:C562469|http://identifiers.org/omim/168100|SNOMEDCT:43647007 http://purl.obolibrary.org/obo/MONDO_0008193 paralysis agitans, juvenile, of Hunt|Parkinson disease, juvenile, of Hunt gard_rare MONDO:0008190 obsolete human papillomavirus type 18 integration site 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008190 MONDO:0008191 obsolete human papillomavirus type 18 integration site 2 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008191 GO:0015171 amino acid transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. http://purl.obolibrary.org/obo/GO_0015171 amino acid/choline transmembrane transporter activity|general amino acid permease activity|hydroxy/aromatic amino acid permease activity|amino acid permease activity|amino acid transporter activity MONDO:0021163 kidney neoplasm biolink:Disease mondo ONCOTREE:KIDNEY|SCTID:126880001|ICD9:239.5|NCIT:C3150 A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. NCIT:C3150|SNOMEDCT:126880001 http://purl.obolibrary.org/obo/MONDO_0021163 renal tumor|neoplasm of kidney|kidney neoplasm (disease)|kidney tumor|tumor of the kidney|renal neoplasm|renal tumors|tumor of kidney|kidney neoplasm|neoplasm of the kidney MONDO:0021162 carotenemia biolink:Disease mondo UMLS:C0154271|ICD10:E67.1|ICD9:278.3 NCIT:C26963|UMLS:C0154271 http://purl.obolibrary.org/obo/MONDO_0021162 NCBITaxon:945 Ehrlichia chaffeensis organism taxon mondo PMID:1757557|PMID:11760958|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_945 MONDO:0021161 gonococcal prostatitis biolink:Disease mondo SCTID:197967000|UMLS:C0341755 An prostatitis (disease) caused by infection with Neisseria gonorrhoeae. SNOMEDCT:197967000|UMLS:C0341755 http://purl.obolibrary.org/obo/MONDO_0021161 Neisseria gonorrhoeae caused prostatitis (disease)|Neisseria gonorrhoeae prostatitis (disease) MONDO:0021160 gonococcal cystitis biolink:Disease mondo SCTID:197848003|UMLS:C0473230 An cystitis caused by infection with Neisseria gonorrhoeae. SNOMEDCT:197848003|UMLS:C0473230 http://purl.obolibrary.org/obo/MONDO_0021160 Neisseria gonorrhoeae caused cystitis|Neisseria gonorrhoeae cystitis HGNC:24725 FAM111A biolink:OntologyClass mondo http://identifiers.org/hgnc/24725 NCBITaxon:948 Anaplasma phagocytophilum organism taxon mondo PMID:1115421|PMID:11760958|GC_ID:11|PMID:8195363 http://purl.obolibrary.org/obo/NCBITaxon_948 agent of human granulocytic ehrlichiosis|Cytoecetes phagocytophila|Ehrlichia equi|human granulocytic Ehrlichia|Rickettsia phagocytophila ovis|Rickettsia phagocytophila|Cytoecetes bovis|Ehrlichia sp. 'HGE agent'|Ehrlichia phagocytophila|HGE agent MONDO:0021169 epithelioid hemangioma biolink:Disease mondo DOID:474|UMLS:C0205788|ICDO:9125/0|NCIT:C4298 A hemangioma characterized by the presence of epithelioid endothelial cells. UMLS:C0205788|NCIT:C4298|DOID:474 http://purl.obolibrary.org/obo/MONDO_0021169 epithelioid hemangioma|angiolymphoid hyperplasia with eosinophilia|histiocytoid hemangioma|epithelioid haemangioma MONDO:0021168 hibernoma biolink:Disease mondo SCTID:404064001|NCIT:C3702|UMLS:C0205822|ICDO:8880/0 A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults. UMLS:C0205822|SNOMEDCT:404064001|NCIT:C3702 http://purl.obolibrary.org/obo/MONDO_0021168 Brown fat neoplasm|fetal fat cell lipoma|hibernoma|Brown fat tumor|hibernoma, benign MONDO:0021167 myositis biolink:Disease mondo UMLS_CUI:C0027121|ICD9:728.9|ICD10:M60|ICD10:G72.49|DOID:633|MESH:D009220|ICD10:M60.9|EFO:0000783|SCTID:128496001|COHD:73001|NCIT:C27578 An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. NCIT:C27578|MESH:D009220|SNOMEDCT:128496001|DOID:633 http://purl.obolibrary.org/obo/MONDO_0021167 muscle tissue inflammation|inflammatory disorder of muscle (disorder)|inflammatory disorder of muscle|inflammation of muscle tissue NCBITaxon:943 Ehrlichia organism taxon mondo PMID:11414267|PMID:11760958|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_943 possibly "Donatienella" Rousselot 1948|Kurlovia|Nicollea|Cowdria|Rickettsia (subgen. Ehrlichia)|Ehrlichia (subgen. Cowdria) NCBITaxon:942 Anaplasmataceae organism taxon mondo PMID:11760958|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_942 MONDO:0021166 inflammatory disease biolink:Disease mondo NCIT:C93210|SCTID:128139000|UMLS:C1290884|ICD9:799.89 A disease involving a pathogenic inflammatory response in the anatomical structure. SNOMEDCT:128139000|UMLS:C1290884|NCIT:C93210 http://purl.obolibrary.org/obo/MONDO_0021166 inflammatory disease|anatomical structure inflammation|inflammatory disorder|inflammation of anatomical structure MONDO:0021165 Paget disease biolink:Disease mondo NCIT:C7073 A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum. NCIT:C7073 http://purl.obolibrary.org/obo/MONDO_0021165 Paget's cell neoplasm|Paget disease|Paget's disease|Paget cell neoplasm MONDO:0021164 posthitis biolink:Disease mondo UMLS:C0235640|SCTID:44318002 An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis. SNOMEDCT:44318002|UMLS:C0235640 http://purl.obolibrary.org/obo/MONDO_0021164 inflammation of prepuce of penis|prepuce of penis inflammation HP:0002983 Micromelia biolink:PhenotypicFeature mondo SNOMEDCT_US:74370006|UMLS:C0025995|MEDDRA:10027546 The presence of abnormally small extremities. http://purl.obolibrary.org/obo/HP_0002983 Smaller or shorter than typical limbs hposlim_core HP:0002981 Abnormality of the calf biolink:PhenotypicFeature mondo UMLS:C4021832 An abnormality of the calf, i.e. of the posterior part of the lower leg. http://purl.obolibrary.org/obo/HP_0002981 Abnormality of the calf HGNC:12744 MLXIPL biolink:OntologyClass mondo http://identifiers.org/hgnc/12744 HGNC:24717 PTCD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/24717 MONDO:0021152 inherited biolink:Disease mondo EFO:0004420 A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents. http://purl.obolibrary.org/obo/MONDO_0021152 familial|genetic|hereditary|constitutitional genetic|inherited genetic MONDO:0021151 non-genetic biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021151 non-genomic MONDO:0021150 obsolete genetic characteristic biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021150 MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 biolink:Disease mondo OMIM:617994 http://identifiers.org/omim/617994 http://purl.obolibrary.org/obo/MONDO_0060715 HFTC3|tumoral calcinosis, hyperphosphatemic, familial, 3; HFTC3 MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 biolink:Disease mondo OMIM:617993 http://identifiers.org/omim/617993 http://purl.obolibrary.org/obo/MONDO_0060714 HFTC2|tumoral calcinosis, hyperphosphatemic, familial, 2; HFTC2 MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon biolink:Disease mondo OMIM:617992|MESH:C566604 http://identifiers.org/omim/617992|MESH:C566604 http://purl.obolibrary.org/obo/MONDO_0060713 deafnes, congenital heart defects, and posterior embryotoxon; DCHE|DCHE MONDO:0060712 developmental delay, intellectual disability, obesity, and dysmorphic features biolink:Disease mondo UMLS:CN248510|OMIM:617991 UMLS:CN248510|http://identifiers.org/omim/617991 http://purl.obolibrary.org/obo/MONDO_0060712 developmental delay, INTELLECTUAL disability, obesity, and DYSMORPHIC features; DIDOD|DIDOD MONDO:0021159 gonococcal salpingitis biolink:Disease mondo UMLS:C0341811|SCTID:237038001 An salpingitis caused by infection with Neisseria gonorrhoeae. UMLS:C0341811|SNOMEDCT:237038001 http://purl.obolibrary.org/obo/MONDO_0021159 Neisseria gonorrhoeae salpingitis|Neisseria gonorrhoeae caused salpingitis MONDO:0021158 gonococcal epididymo-orchitis biolink:Disease mondo SCTID:236772009|UMLS:C0341782 UMLS:C0341782|SNOMEDCT:236772009 http://purl.obolibrary.org/obo/MONDO_0021158 MONDO:0060711 Jaberi-Elahi syndrome biolink:Disease mondo UMLS:CN244943|OMIM:617988 http://identifiers.org/omim/617988|UMLS:CN244943 http://purl.obolibrary.org/obo/MONDO_0060711 JABELS|Jaberi-Elahi syndrome; JABELS MONDO:0021157 gonococcal cervicitis biolink:Disease mondo UMLS:C0812378|SCTID:237083000 UMLS:C0812378|SNOMEDCT:237083000 http://purl.obolibrary.org/obo/MONDO_0021157 gonorrhea of cervix|gonorrhea of uterine cervix MONDO:0021156 hypophysitis biolink:Disease mondo SCTID:237705001|NCIT:C12399|MESH:D000072659|UMLS:C0342409 Inflammation of the pituitary gland. NCIT:C12399|MESH:D000072659|UMLS:C0342409|SNOMEDCT:237705001 http://purl.obolibrary.org/obo/MONDO_0021156 pituitary|nervous system, pituitary|pituitary gland inflammation|hypophysis cerebri|gland, pituitary|hypophysis|hypophysitides|pituitary gland|inflammation of pituitary gland MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 biolink:Disease mondo MESH:C563476|OMIM:167320|NCIT:C122663 A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia. http://identifiers.org/omim/167320|NCIT:C122663|MESH:C563476 http://purl.obolibrary.org/obo/MONDO_0008178 lower motor neuron degeneration with Paget-like bone disease|IBMPFD1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; IBMPFD1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with Paget disease of bone MONDO:0008179 paroxysmal extreme pain disorder biolink:Disease mondo GARD:0012854|Orphanet:46348|MESH:C563475|NCIT:C125385|ICD9:349.89|UMLS:C1833661|OMIM:167400|SCTID:699190008 Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation. UMLS:C1833661|http://identifiers.org/omim/167400|MESH:C563475|SNOMEDCT:699190008|NCIT:C125385|ORPHA:46348 http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder|rectal pain, familial|submandibular, ocular, and rectal pain with flushing|pain, submandibular, ocular, and rectal, with flushing|Pexpd|PEPD|familial rectal pain|familial rectal syndrome gard_rare|ordo_disease MONDO:0021155 X-linked cone-rod dystrophy biolink:Disease mondo X-linked form of cone-rod dystrophy. http://purl.obolibrary.org/obo/MONDO_0021155 cone-rod dystrophy, X-linked MONDO:0008176 Paget disease of bone 3 biolink:Disease mondo GARD:0004191|OMIM:167250|UMLS:C4085252 UMLS:C4085252|http://identifiers.org/omim/167250 http://purl.obolibrary.org/obo/MONDO_0008176 Paget disease of bone type 3|Paget disease of bone 3|PDB3|Paget disease of bone, familial|Paget disease of bone 3; PDB3|familial Paget disease of bone MONDO:0021154 dermis disease biolink:Disease mondo UMLS:CN227618|Orphanet:79381 A disease that involves the dermis. UMLS:CN227618|ORPHA:79381 http://purl.obolibrary.org/obo/MONDO_0021154 disease of dermis|other dermis disorder|disease or disorder of dermis|disorder of dermis|dermis disease|dermis disease or disorder|disorder of dermis ordo_group_of_disorders MONDO:0008177 extramammary Paget disease biolink:Disease mondo NCIT:C3302|GARD:0004192|UMLS:C0030186|ICDO:8542/3|Orphanet:2800|MESH:D010145|OMIM:167300|ICD10:C44.5|ONCOTREE:EMPD|EFO:1000249|MedDRA:10033366|MedDRA:10068223 A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva. ORPHA:2800|MEDDRA:10033366|MESH:D010145|MEDDRA:10068223|NCIT:C3302|UMLS:C0030186|http://identifiers.org/omim/167300 http://purl.obolibrary.org/obo/MONDO_0008177 extramammary Paget disease|Paget's skin disease|Paget disease, EXTRAMAMMARY|cutaneous Paget's disease|Paget disease Extramammary|Paget's disease of skin|EMPD|Paget's disease of the skin|Extramammary Paget's disease ordo_disease NCBITaxon:951 Neorickettsia sennetsu organism taxon mondo PMID:11594628|PMID:11760958|GC_ID:11|PMID:1736961 http://purl.obolibrary.org/obo/NCBITaxon_951 Rickettsia sennetsu|Ehrlichia sennetsu MONDO:0021153 obsolete genetic and acquired biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021153 somatic genetic MONDO:0008174 pachyonychia congenita 2 biolink:Disease mondo OMIM:167210 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. http://identifiers.org/omim/167210 http://purl.obolibrary.org/obo/MONDO_0008174 pachyonychia congenita, Jackson-Lawler type, formerly|pachyonychia congenita, Jackson-Lawler type|pachyonychia congenita type 2|PC2|pachyonychia congenita caused by mutation in KRT17|KRT17 pachyonychia congenita|pachyonychia congenita 2|pachyonychia congenita 2; PC2 MONDO:0008175 pacman dysplasia biolink:Disease mondo Orphanet:1952|GARD:0004189|ICD10:Q77.8|MESH:C538095|UMLS:C1833676|SCTID:722127006|OMIM:167220 Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal. ORPHA:1952|SNOMEDCT:722127006|MESH:C538095|http://identifiers.org/omim/167220|UMLS:C1833676 http://purl.obolibrary.org/obo/MONDO_0008175 epiphyseal stippling with osteoclastic hyperplasia|pacman dysplasia|Pacman syndrome|epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome ordo_malformation_syndrome|gard_rare MONDO:0008172 PHOAD biolink:Disease mondo UMLS:C2674695|OMIM:167100 UMLS:C2674695|http://identifiers.org/omim/167100 http://purl.obolibrary.org/obo/MONDO_0008172 pachydermoperiostosis, autosomal dominant|PDP, autosomal dominant|hypertrophic osteoarthropathy, primary, autosomal dominant; PHOAD|PHOAD|Pho, autosomal dominant|hypertrophic osteoarthropathy, primary, autosomal dominant NCBITaxon:30727 Cyprinoidei organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidea MONDO:0008173 pachyonychia congenita 1 biolink:Disease mondo SCTID:39427000|OMIM:167200 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene. http://identifiers.org/omim/167200|SNOMEDCT:39427000 http://purl.obolibrary.org/obo/MONDO_0008173 pachyonychia congenita, Jadassohn-Lewandowsky type, formerly|pachyonychia congenita type 1|pachyonychia congenita, Jadassohn-Lewandowsky type|PC1|KRT16 pachyonychia congenita|pachyonychia congenita caused by mutation in KRT16|Jadassohn-Lewandowsky syndrome, formerly|Jadassohn-Lewandowsky syndrome|pachyonychia congenita 1|pachyonychia congenita 1; PC1 MONDO:0008170 ovarian cancer biolink:Disease mondo NCIT:C7431|MESH:D010051|Orphanet:213500|DOID:2394|ICD9:183.0|ICD10:C56|GARD:0007295|SCTID:363443007|COHD:4181351|OMIM:167000 A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas. NCIT:C7431|MESH:D010051|DOID:2394|SNOMEDCT:363443007|http://identifiers.org/omim/167000|ORPHA:213500 http://purl.obolibrary.org/obo/MONDO_0008170 malignant neoplasm of the ovary|primary ovarian cancer|ovarian cancer|ovary neoplasm|ovarian cancer, NOS|ovarian malignant tumor|malignant tumour of ovary|malignant tumor of the ovary|cancer of ovary|malignant ovarian neoplasm|ovarian cancer, epithelial|malignant tumor of ovary|cancer of the ovary|ovary cancer|malignant ovarian tumor|ovarian neoplasm|tumor of the ovary|malignant neoplasm of ovary|malignant ovary neoplasm MONDO:0008171 nephrolithiasis biolink:Disease mondo ICD10:N20|MESH:D053040|COHD:201620|SCTID:266556005|DOID:585|EFO:0004253|ICD9:592|EFO:0003845|NCIT:C114667|ICD10:N20.2|COHD:4148260|UMLS:C0392525|UMLS:C0156257 The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. MESH:D053040|UMLS:C0156257|NCIT:C114667|SNOMEDCT:266556005|UMLS:C0392525|DOID:585 http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis, calcium oxalate; CAON|urolithiasis, calcium oxalate|renal calculi|kidney stone|calculus of kidney and ureter|kidney stones|nephrolithiasis, calcium oxalate|CAON|Stone - kidney/ureter HGNC:12712 VPS33B biolink:OntologyClass mondo http://identifiers.org/hgnc/12712 FOODON:00001854 fish food product analog biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001854 GO:0015152 glucose-6-phosphate transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/GO_0015152 MONDO:0021141 acquired biolink:Disease mondo Orphanet:409941 ORPHA:409941 http://purl.obolibrary.org/obo/MONDO_0021141 not genetically inherited MONDO:0021140 congenital biolink:Disease mondo A characteristic of a disease in which the disease is present at birth, regardless of cause. http://purl.obolibrary.org/obo/MONDO_0021140 inborn NCBITaxon:967 Spirillum organism taxon mondo PMID:19625415|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_967 MONDO:0060707 Ververi-Brady syndrome biolink:Disease mondo UMLS:CN244927|OMIM:617982 http://identifiers.org/omim/617982|UMLS:CN244927 http://purl.obolibrary.org/obo/MONDO_0060707 Ververi-Brady syndrome; VERBRAS|VERBRAS MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures biolink:Disease mondo OMIM:617977|UMLS:CN244929 http://identifiers.org/omim/617977|UMLS:CN244929 http://purl.obolibrary.org/obo/MONDO_0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures; NEDSBAS|NEDSBAS|Elhattab-Alkuraya syndrome MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type biolink:Disease mondo OMIM:617974|UMLS:CN244923 http://identifiers.org/omim/617974|UMLS:CN244923 http://purl.obolibrary.org/obo/MONDO_0060702 SEMDDR|spondyloepimetaphyseal dysplasia, Di Rocco type MONDO:0021149 genetic vs non-genetic etiology biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021149 HGNC:12718 VRK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12718 MONDO:0021148 female reproductive system neoplasm biolink:Disease mondo EFO:1001331|MESH:D005833|UMLS:C0017416|NCIT:C3053 A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. UMLS:C0017416|MESH:D005833|NCIT:C3053 http://purl.obolibrary.org/obo/MONDO_0021148 female reproductive organ neoplasm (disease)|tumor of female reproductive system|gynecologic neoplasm|neoplasm of the female reproductive system|gynecologic tumor|neoplasm of female reproductive system|female reproductive system neoplasm|female reproductive system tumor|tumor of the female reproductive system|neoplasm of female reproductive organ|female reproductive organ tumor|female reproductive system neoplasm (disease) MONDO:0021147 disorder of development or morphogenesis biolink:Disease mondo Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development. http://purl.obolibrary.org/obo/MONDO_0021147 MONDO:0021146 headache disorder biolink:Disease mondo SCTID:230461009|MESH:D020773|COHD:375527 Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) MESH:D020773|SNOMEDCT:230461009 http://purl.obolibrary.org/obo/MONDO_0021146 intractable headaches|headache, chronic daily|cephalgia syndromes|daily headache, chronic|chronic headaches|chronic headache|cephalgia syndrome|headaches, chronic daily|intractable headache|headache disorder|headache, intractable|daily headaches, chronic|syndrome, headache|headache, chronic|chronic daily headaches|headache syndrome|headaches, intractable|headache syndromes|chronic daily headache|headaches, chronic MONDO:0021145 disease of genitourinary system biolink:Disease mondo UMLS:C0080276|ICD10:N00.N99|SCTID:42030000 A disease that involves the genitourinary system. SNOMEDCT:42030000|UMLS:C0080276 http://purl.obolibrary.org/obo/MONDO_0021145 genitourinary system disease|urogenital disease|urogenital disorder|disorder of the genitourinary system|genitourinary system disease or disorder|disorder of genitourinary system|syndrome of the genitourinary system|disease of genitourinary system|disease or disorder of genitourinary system|disorder of genitourinary system MONDO:0008189 papillomatosis, florid, of nipple biolink:Disease mondo NCIT:C4383|GARD:0010174|MESH:C537167|UMLS:C1868647|SCTID:237467005|OMIM:167950 A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis. http://identifiers.org/omim/167950|UMLS:C1868647|NCIT:C4383|SNOMEDCT:237467005|MESH:C537167 http://purl.obolibrary.org/obo/MONDO_0008189 florid papillomatosis|papillomatosis, florid, of nipple|erosive adenomatosis of nipple|erosive nipple adenomatosis|florid papillomatosis of the nipple|erosive adenomatosis of the nipple|papillomatosis florid of nipple gard_rare HP:0000309 Abnormality of the midface biolink:PhenotypicFeature mondo UMLS:C4021811 An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. http://purl.obolibrary.org/obo/HP_0000309 Anomaly of the midface|Deformity of the midface|Malformation of the midface|Abnormality of the midface MONDO:0021144 ovarian clear cell tumor biolink:Disease mondo NCIT:C40076|ONCOTREE:CCOV|UMLS:C0346164 A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells. UMLS:C0346164|NCIT:C40076 http://purl.obolibrary.org/obo/MONDO_0021144 ovarian clear cell neoplasm|clear cell ovarian cancer|ovarian clear cell tumor MONDO:0021143 melanocytic neoplasm biolink:Disease mondo SCTID:399956005|UMLS:C1302746|MESH:D018326|NCIT:C7058 MESH:D018326|SNOMEDCT:399956005|NCIT:C7058|UMLS:C1302746 http://purl.obolibrary.org/obo/MONDO_0021143 melanocytic neoplasm|melanomas and nevi MONDO:0008187 panic disorder 1 biolink:Disease mondo OMIM:167870 http://identifiers.org/omim/167870 http://purl.obolibrary.org/obo/MONDO_0008187 panic disorder|panic disorder susceptibility locus, chromosome 13Q-related|panic disorder with bladder conditions|panic disorder 1|panic disorder with Joint laxity|PAND1|panic disorder 1; PAND1 MONDO:0008188 papillomatosis, confluent and reticulated biolink:Disease mondo OMIM:167900|UMLS:C0263385|MESH:C566832 http://identifiers.org/omim/167900|MESH:C566832|UMLS:C0263385 http://purl.obolibrary.org/obo/MONDO_0008188 papillomatosis, familial cutaneous|papillomatosis, reticulated and confluent, of Gougerot and Carteaud|papillomatosis, confluent and reticulated; carp|papillomatosis, confluent and reticulated|carp MONDO:0021142 acquired rippling muscle disease biolink:Disease mondo The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported. http://purl.obolibrary.org/obo/MONDO_0021142 sporadic rippling muscle disease|acquired rippling muscle disease MONDO:0008185 hereditary chronic pancreatitis biolink:Disease mondo ICD9:577.8|SCTID:68072000|NCIT:C95436|GARD:0006632|OMIM:167800|MESH:C537262|Orphanet:676|ICD10:K86.1 Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas. ORPHA:676|SNOMEDCT:68072000|UMLS:C0341474|NCIT:C95436|MESH:C537262|http://identifiers.org/omim/167800 http://purl.obolibrary.org/obo/MONDO_0008185 pancreatitis, chronic, protection against|autosomal dominant hereditary pancreatitis|pancreatitis, chronic pancreatitis, chronic, susceptibility to, included|Hp|pancreatitis, chronic, susceptibility to|pancreatitis, hereditary|hereditary pancreatitis|pancreatitis, hereditary; PCTT|familial pancreatitis|pancreatitis, calcific, included|PCTT|hereditary chronic pancreatitis|pancreatitis, chronic, protection against, included|pancreatitis, calcific|HPC|pancreatitis, chronic ordo_disease|gard_rare|predisposition HP:0002960 Autoimmunity biolink:PhenotypicFeature mondo UMLS:C0004364|MSH:D001327|SNOMEDCT_US:85828009 The occurrence of an immune reaction against the organism's own cells or tissues. http://purl.obolibrary.org/obo/HP_0002960 Autoimmune disease|Autoimmune disorder|Autoimmunity|Autoimmune condition MONDO:0008186 pancytopenia and occlusive vascular disease biolink:Disease mondo UMLS:C1868652|MESH:C566836|OMIM:167850 MESH:C566836|UMLS:C1868652|http://identifiers.org/omim/167850 http://purl.obolibrary.org/obo/MONDO_0008186 pancytopenia and occlusive vascular disease MONDO:0008183 annular pancreas biolink:Disease mondo NCIT:C98813|GARD:0000705|OMIM:167750|UMLS:C0149955|Orphanet:675|SCTID:40315008|ICD10:Q45.1|MESH:C536376|DOID:0060850|MedDRA:10071757 Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. ORPHA:675|NCIT:C98813|DOID:0060850|UMLS:C0149955|MEDDRA:10071757|http://identifiers.org/omim/167750|SNOMEDCT:40315008|MESH:C536376 http://purl.obolibrary.org/obo/MONDO_0008183 pancreas, annular gard_rare|ordo_morphological_anomaly MONDO:0008184 pancreas, dorsal, agenesis of biolink:Disease mondo GARD:0004203|OMIM:167755|UMLS:C1868659|MESH:C538109 UMLS:C1868659|MESH:C538109|http://identifiers.org/omim/167755 http://purl.obolibrary.org/obo/MONDO_0008184 agenesis of the dorsal pancreas|pancreas, dorsal, agenesis of|complete agenesis of the dorsal pancreas|congenital short pancreas|pancreas agenesis, dorsal|partial agenesis of the dorsal pancreas CHEBI:134179 volatile organic compound biolink:ChemicalSubstance mondo Any organic compound having an initial boiling point less than or equal to 250 degreeC (482 degreeF) measured at a standard atmospheric pressure of 101.3 kPa. http://purl.obolibrary.org/obo/CHEBI_134179 VOC|VOCs|volatile organic compounds HP:0000301 Abnormality of facial musculature biolink:PhenotypicFeature mondo UMLS:C4025865 An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). http://purl.obolibrary.org/obo/HP_0000301 Facial muscle issue|Abnormality of facial muscles MONDO:0008181 palmaris longus muscle, absence of biolink:Disease mondo OMIM:167600 http://identifiers.org/omim/167600 http://purl.obolibrary.org/obo/MONDO_0008181 palmaris longus muscle, absence of MONDO:0008182 nasopalpebral lipoma-coloboma syndrome biolink:Disease mondo MESH:C538338|UMLS:C1868660|OMIM:167730|ICD10:Q10.3|GARD:0003927|SCTID:723411003|Orphanet:2399 Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. UMLS:C1868660|SNOMEDCT:723411003|ORPHA:2399|MESH:C538338|http://identifiers.org/omim/167730 http://purl.obolibrary.org/obo/MONDO_0008182 palpebral coloboma-lipoma syndrome|NPLCS|palpebral coloboma lipoma syndrome|Nasopalpebral lipoma coloboma syndrome|nasopalpebral lipoma-coloboma syndrome|NASOPALPEBRAL lipoma-coloboma syndrome; NPLCS ordo_malformation_syndrome|gard_rare HGNC:12723 VSX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12723 MONDO:0008180 congenital velopharyngeal incompetence biolink:Disease mondo MESH:D014681|OMIM:167500|Orphanet:2291|UMLS:C0042454|ICD10:J39.2|GARD:0005470 Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech. UMLS:C1997202|ORPHA:2291|MESH:D014681|http://identifiers.org/omim/167500|UMLS:C0042454 http://purl.obolibrary.org/obo/MONDO_0008180 palatopharyngeal incompetence|velopharyngeal incompetence|velopharyngeal insufficiency ordo_malformation_syndrome MONDO:0021139 congenital or acquired biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021139 MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 biolink:Disease mondo OMIM:617633|DOID:0080260|UMLS:CN417133 UMLS:CN417133|http://identifiers.org/omim/617633|DOID:0080260 http://purl.obolibrary.org/obo/MONDO_0033116 SCAR26|spinocerebellar ataxia, autosomal recessive 26; SCAR26|autosomal recessive spinocerebellar ataxia 26 MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 biolink:Disease mondo OMIM:617584|UMLS:CN349871|DOID:0080259 http://identifiers.org/omim/617584|UMLS:CN349871|DOID:0080259 http://purl.obolibrary.org/obo/MONDO_0033115 spinocerebellar ataxia, autosomal recessive 25; SCAR25|autosomal recessive spinocerebellar ataxia 25|SCAR25 CHEBI:30527 flavin biolink:ChemicalSubstance mondo A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position. http://purl.obolibrary.org/obo/CHEBI_30527 flavins|Flavin MONDO:0011724 encephalopathy due to GLUT1 deficiency biolink:Disease mondo MESH:C536830|EFO:0009139|UMLS:C1847501|ICD10:G93.4|Orphanet:71277|OMIM:606777|UMLS:CN030711|GARD:0009265 Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. UMLS:CN030711|http://identifiers.org/omim/606777|UMLS:C1847501|ORPHA:71277|MESH:C536830 http://purl.obolibrary.org/obo/MONDO_0011724 glut-1 deficiency syndrome|glucose transporter protein syndrome|GLUT1-DS|encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1; GLUT1DS1|glucose transport defect, blood-brain barrier|G1D|glucose transporter type 1 deficiency syndrome|GLUT1 deficiency syndrome type 1|GLUT1 deficiency syndrome|glucose Transport defect, blood-brain barrier|GLUT1 DS|GLUT1 deficiency syndrome 1|glucose transporter type1 (glut-1) deficiency|glucose transporter Protein syndrome|De Vivo disease|glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included|GLUT1DS1|GLUT1 deficiency syndrome 1, autosomal recessive|glucose transporter type 1 deficiency gard_rare|ordo_disease MONDO:0011723 hemifacial myohyperplasia biolink:Disease mondo SCTID:699420006|GARD:0010084|Orphanet:141148|MESH:C535862|ICD10:Q67.4|OMIM:606773|ICD9:744.89 Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities. MESH:C535862|SNOMEDCT:699420006|ORPHA:141148|UMLS:C1847521|http://identifiers.org/omim/606773 http://purl.obolibrary.org/obo/MONDO_0011723 hemifacial myohyperplasia|hypertrophy and asymmetry of the facial muscles|HMH|hemifacial myohyperplasia; HMH gard_rare|ordo_malformation_syndrome MONDO:0011726 peripheral arterial occlusive disease 1 biolink:Disease mondo OMIM:606787|MESH:C564658|UMLS:C1847493 http://identifiers.org/omim/606787|MESH:C564658|UMLS:C1847493 http://purl.obolibrary.org/obo/MONDO_0011726 peripheral arterial occlusive disease type 1|Paod1|peripheral arterial occlusive disease 1 MONDO:0011725 Crigler-Najjar syndrome type 2 biolink:Disease mondo OMIM:606785|ICD10:E80.5|Orphanet:79235|UMLS:C2931132|GARD:0008683|MedDRA:10011387|SCTID:68067009|MESH:C536213 Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1. ORPHA:79235|http://identifiers.org/omim/606785|SNOMEDCT:68067009|UMLS:C2931132|UMLS:C0268311|MEDDRA:10011387|MESH:C536213 http://purl.obolibrary.org/obo/MONDO_0011725 hyperbilirubinemia, Crigler-Najjar type 2|Crigler Najjar syndrome, type 2|bilirubin-UGT deficiency type 2|Crigler-Najjar syndrome, type 2|Arias syndrome|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2|UGT deficiency type 2|hereditary unconjugated hyperbilirubinemia type 2|Crigler-Najjar syndrome, type II ordo_clinical_subtype|gard_rare GO:0042762 regulation of sulfur metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur. http://purl.obolibrary.org/obo/GO_0042762 regulation of sulfur metabolism|regulation of sulphur metabolism|regulation of sulphur metabolic process MONDO:0011728 blepharospasm biolink:Disease mondo UMLS:C0005747|MESH:D001764|ICD9:333.81|GARD:0005909|OMIM:606798|SCTID:59026006|DOID:529|ICD10:G24.5|COHD:435802 Involuntary twitching of the eyelid. http://identifiers.org/omim/606798|UMLS:C0005747|NCIT:C118723|SNOMEDCT:59026006|MESH:D001764|DOID:529 http://purl.obolibrary.org/obo/MONDO_0011728 blepharospasm, benign essential, susceptibility to|blepharospasm, benign essential|benign essential blepharospasm|BEB MONDO:0011727 anorexia nervosa, susceptibility to, 1 biolink:Disease mondo OMIM:606788|UMLS:CN244557 http://identifiers.org/omim/606788|UMLS:CN244557 http://purl.obolibrary.org/obo/MONDO_0011727 ANON1|anorexia nervosa, susceptibility to; anon|anorexia nervosa, susceptibility to, 1|anon|AN|anorexia nervosa, susceptibility to, 1; ANON1 predisposition MONDO:0011729 stroke, susceptibility to, 1 biolink:Disease mondo OMIM:606799 http://identifiers.org/omim/606799 http://purl.obolibrary.org/obo/MONDO_0011729 stroke, susceptibility to, 1|stroke, susceptibility to, type 1|Strk1 predisposition MONDO:0011731 glucose-galactose malabsorption biolink:Disease mondo GARD:0006521|MESH:C562602|Orphanet:35710|MedDRA:10066388|OMIM:606824|ICD9:271.3|ICD10:E74.3|SCTID:190749000 Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period. SNOMEDCT:190749000|MESH:C562602|ORPHA:35710|MEDDRA:10066388|http://identifiers.org/omim/606824 http://purl.obolibrary.org/obo/MONDO_0011731 glucose/galactose malabsorption|carbohydrate intolerance of glucose galactose|glucose/galactose malabsorption; GGM|Complex carbohydrate intolerance|SGLT1 deficiency|GGM|glucose galactose malabsorption deficiency|monosaccharide malabsorption ordo_disease|gard_rare MONDO:0011730 fumaric aciduria biolink:Disease mondo Orphanet:24|GARD:0006476|MESH:C538191|OMIM:606812|SCTID:237983002|ICD10:E88.8|UMLS:C2936826|ICD9:282.3 Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. ORPHA:24|SNOMEDCT:237983002|MESH:C538191|UMLS:C2936826|http://identifiers.org/omim/606812|UMLS:C0342770 http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria|fumarate hydratase deficiency|FMRD|fumarase deficiency|fumarase deficiency; FMRD ordo_disease MONDO:0011733 PSMNSB biolink:Disease mondo GARD:0010195|OMIM:606840|MESH:C536389 MESH:C536389|http://identifiers.org/omim/606840 http://purl.obolibrary.org/obo/MONDO_0011733 PSMNSB|nocturnal facio-mandibular myoclonus|parasomnia, sleep bruxism type|parasomnia, sleep bruxism type; PSMNSB|faciomandibular myoclonus, nocturnal|parasomnia, Sleeptalking type MONDO:0011732 familial digital arthropathy-brachydactyly biolink:Disease mondo Orphanet:85169|MESH:C564656|OMIM:606835|UMLS:C1847406|ICD10:M06.8 Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. UMLS:C1847406|ORPHA:85169|http://identifiers.org/omim/606835|MESH:C564656 http://purl.obolibrary.org/obo/MONDO_0011732 FDAB|digital arthropathy-brachydactyly, familial|digital arthropathy-brachydactyly, familial; FDAB ordo_malformation_syndrome CHEBI:17544 hydrogencarbonate biolink:ChemicalSubstance mondo The carbon oxoanion resulting from the removal of a proton from carbonic acid. http://purl.obolibrary.org/obo/CHEBI_17544 Hydrogencarbonate|[CO2(OH)](-)|hydrogencarbonate|hydrogen(trioxidocarbonate)(1-)|BICARBONATE ION|hydroxidodioxidocarbonate(1-)|hydrogen carbonate|HCO3(-)|hydrogentrioxocarbonate(1-)|hydrogentrioxocarbonate(IV)|Acid carbonate|hydrogencarbonate(1-)|Bicarbonate|HCO3- MONDO:0023704 Martinez Monasterio Pinheiro syndrome biolink:Disease mondo MESH:C536027|UMLS:C2931089|GARD:0003404 A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. UMLS:C2931089|MESH:C536027 http://purl.obolibrary.org/obo/MONDO_0023704 cleft lip-palate-oligodontia-syndactyly-hair alterations|cleft lip/palate oligodontia syndactyly hair alterations n_of_one|gard_rare HGNC:3247 EHHADH biolink:OntologyClass mondo http://identifiers.org/hgnc/3247 NCBITaxon:39107 Murinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39107 MONDO:0011713 melanoma-pancreatic cancer syndrome biolink:Disease mondo OMIM:606719 http://identifiers.org/omim/606719 http://purl.obolibrary.org/obo/MONDO_0011713 familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome|melanoma-pancreatic cancer syndrome MONDO:0011712 van der Woude syndrome 2 biolink:Disease mondo UMLS:C1847604|MESH:C536529|GARD:0007846|OMIM:606713 Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene. http://identifiers.org/omim/606713|UMLS:C1847604|MESH:C536529 http://purl.obolibrary.org/obo/MONDO_0011712 VAN DER Woude syndrome 2; VWS2|Van Der Woude syndrome type 2|van der Woude syndrome caused by mutation in GRHL3|van der Woude syndrome 2|GRHL3 van der Woude syndrome|VWS2 gard_rare MONDO:0011715 Seckel syndrome 2 biolink:Disease mondo DOID:0070013|MESH:C537534|OMIM:606744|UMLS:C1847572 Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene. http://identifiers.org/omim/606744|DOID:0070013|UMLS:C1847572|MESH:C537534 http://purl.obolibrary.org/obo/MONDO_0011715 Seckel syndrome type 2|Seckel syndrome 2|Seckel-type dwarfism 2|microcephalic primordial dwarfism 2|RBBP8 Seckel syndrome|SCKL2|Seckel syndrome 2; SCKL2|Seckel syndrome caused by mutation in RBBP8 MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome biolink:Disease mondo OMIM:606721|UMLS:C3807567 http://identifiers.org/omim/606721|UMLS:C3807567 http://purl.obolibrary.org/obo/MONDO_0011714 lipodystrophy, partial, with congenital cataracts and neurodegeneration|partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; LCCNS|partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome|LCCNS MONDO:0011717 hyperinsulinism-hyperammonemia syndrome biolink:Disease mondo Orphanet:35878|ICD10:E72.8|OMIM:606762|NCIT:C131832|GARD:0009931|UMLS:C1847555|MESH:C538375|DOID:0070217 Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. http://identifiers.org/omim/606762|NCIT:C131832|DOID:0070217|UMLS:C1847555|ORPHA:35878|MESH:C538375 http://purl.obolibrary.org/obo/MONDO_0011717 HHF6|hyperinsulinism hyperammonemia syndrome|hyperinsulinemic hypoglycemia, familial, type 6|glutamate dehydrogenase 1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, 6|hyperinsulinism-hyperammonemia syndrome|hi/HA syndrome|HA/hi syndrome|hyperinsulinism/hyperammonemia syndrome|hyperinsulinemic hypoglycemia, familial, 6; HHF6|GLUD1 hyperinsulinism|hyperinsulinemic hypoglycemia familial 6|GDH hyperinsulinism gard_rare|ordo_disease MONDO:0011716 acute hemorrhagic leukoencephalitis biolink:Disease mondo ICD9:136.9|NCIT:C84535|OMIM:606752|EFO:0007132|DOID:10992|UMLS:C0014077|MESH:D004684|SCTID:72986009|GARD:0008629 Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL. http://identifiers.org/omim/606752|SNOMEDCT:72986009|NCIT:C84535|MESH:D004684|DOID:10992|UMLS:C0014077 http://purl.obolibrary.org/obo/MONDO_0011716 AHL|Weston-Hurst syndrome|AHLE|acute hemorrhagic encephalomyelitis|acute necrotizing hemorrhagic leukoencephalitis|acute hemorrhagic leukoencephalitis|Ahl|acute haemorrhagic leucoencephalitis of Weston Hurst gard_rare MONDO:0011719 gastrointestinal stromal tumor biolink:Disease mondo UMLS:C3179349|ONCOTREE:GIST|ICDO:8936/1|ICD10:C26.9|UMLS:C0238198|MESH:D046152|OMIM:606764|DOID:9253|Orphanet:44890|MedDRA:10051066|NCIT:C3868|SCTID:420120006|GARD:0008598 Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1. MEDDRA:10051066|ORPHA:44890|http://identifiers.org/omim/606764|DOID:9253|MESH:D046152|SNOMEDCT:420120006|UMLS:C0238198|UMLS:C3179349|NCIT:C3868 http://purl.obolibrary.org/obo/MONDO_0011719 gist|gastrointestinal stromal neoplasm|gant|gastrointestinal stromal tumor; gist|stromal tumor of gastrointestinal tract|gastrointestinal stromal tumors|gastrointestinal stromal tumor (gist)|gastrointestinal stromal tumor|gastrointestinal stromal sarcoma ordo_disease MONDO:0011718 primary ciliary dyskinesia 2 biolink:Disease mondo OMIM:606763|DOID:0110626|MESH:C535277|UMLS:C1847554|ICD10:Q34.8 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene. MESH:C535277|http://identifiers.org/omim/606763|DOID:0110626|UMLS:C1847554 http://purl.obolibrary.org/obo/MONDO_0011718 ciliary dyskinesia, primary, type 2|primary ciliary dyskinesia caused by mutation in DNAAF3|primary ciliary dyskinesia 2 with or without situs inversus|ciliary dyskinesia, primary, 2|ciliary dyskinesia, primary, 2; CILD2|CILD2|ciliary dyskinesia, primary, 2, with or without situs inversus|DNAAF3 primary ciliary dyskinesia|primary ciliary dyskinesia type 2 OBO:so#has_part has_part biolink:OntologyClass mondo Inverse of part_of. http://purl.obolibrary.org/obo/so#has_part MONDO:0011720 spermatogenic failure 3 biolink:Disease mondo MESH:C564665|UMLS:C1847540|DOID:0070168|OMIM:606766 Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene. DOID:0070168|UMLS:C1847540|http://identifiers.org/omim/606766|MESH:C564665 http://purl.obolibrary.org/obo/MONDO_0011720 SPGF3|spermatogenic failure 3|spermatogenic failure type 3|SLC26A8 azoospermia|azoospermia caused by mutation in SLC26A8|spermatogenic failure 3; SPGF3 CL:0000893 thymocyte biolink:Cell mondo FMA:72202|BTO:0001372|XAO:0003159|CALOHA:TS-1042 An immature T cell located in the thymus. http://purl.obolibrary.org/obo/CL_0000893 thymic lymphocyte|immature T cell|immature T-cell|immature T lymphocyte|immature T-lymphocyte GO:0042776 mitochondrial ATP synthesis coupled proton transport biolink:OntologyClass mondo The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. http://purl.obolibrary.org/obo/GO_0042776 mitochondrial proton transport HGNC:12703 BEST1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12703 CL:0000894 DN1 thymic pro-T cell biolink:Cell mondo A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. http://purl.obolibrary.org/obo/CL_0000894 DN1 thymic pro-T-lymphocyte|DN1 thymic progenitor T cell|preT.DN1.Th|DN1 thymocyte|double negative 1|DN1 thymic pro-T-cell|DN1 thymic pro-T lymphocyte CL:0000895 naive thymus-derived CD4-positive, alpha-beta T cell biolink:Cell mondo An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low. http://purl.obolibrary.org/obo/CL_0000895 naive CD4+ T cell|T.4Nve.Sp|naive thymus-derived CD4-positive, alpha-beta T-cell|naive thymus-derived CD4-positive, alpha-beta T lymphocyte|naive thymus-derived CD4-positive, alpha-beta T-lymphocyte|Th0 MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:397973|UMLS:C1847522|OMIM:606772|MESH:C564660 MESH:C564660|ORPHA:397973|UMLS:C1847522|http://identifiers.org/omim/606772 http://purl.obolibrary.org/obo/MONDO_0011722 Momes syndrome|mental retardation, obesity, mandibular prognathism, and eye and skin anomalies|MOMES syndrome|intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies ordo_disease MONDO:0011721 distal myopathy with anterior tibial onset biolink:Disease mondo UMLS:C1847532|Orphanet:178400|OMIM:606768|ICD10:G71.0|MESH:C564664 MESH:C564664|UMLS:C1847532|ORPHA:178400|http://identifiers.org/omim/606768 http://purl.obolibrary.org/obo/MONDO_0011721 myopathy, distal, with anterior tibial onset; DMAT|distal anterior compartment myopathy|myopathy, distal, with anterior tibial onset|DMAT ordo_disease CL:0000896 activated CD4-positive, alpha-beta T cell biolink:Cell mondo A recently activated CD4-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive. http://purl.obolibrary.org/obo/CL_0000896 activated CD4-positive, alpha-beta T-cell|activated CD4-positive, alpha-beta T lymphocyte|activated CD4-positive, alpha-beta T-lymphocyte HGNC:3259 EIF2B3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3259 HGNC:3258 EIF2B2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3258 HGNC:3257 EIF2B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3257 HGNC:3255 EIF2AK3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3255 MONDO:0011709 split hand-foot malformation 5 biolink:Disease mondo MESH:C564674|DOID:0090022|ICD10:Q71.6|UMLS:C1847622|OMIM:606708|NCIT:C75002 Split-hand/foot malformation mapped to chromosome 2q31. NCIT:C75002|DOID:0090022|http://identifiers.org/omim/606708|MESH:C564674|UMLS:C1847622 http://purl.obolibrary.org/obo/MONDO_0011709 split-hand/foot malformation 5; SHFM5|split hand-foot malformation type 5|split-hand/foot malformation 5|split-hand/foot malformation type 5|SHFM5 CHEBI:30501 beryllium atom biolink:ChemicalSubstance mondo Alkaline earth metal atom with atomic number 4. http://purl.obolibrary.org/obo/CHEBI_30501 berilio|Beryllium|beryllium|4Be|Be|beryllium MONDO:0011702 dilated cardiomyopathy 1L biolink:Disease mondo DOID:0110436|OMIM:606685|UMLS:C1847667|ICD10:I42.0|MESH:C564679 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene. http://identifiers.org/omim/606685|DOID:0110436|MESH:C564679|UMLS:C1847667 http://purl.obolibrary.org/obo/MONDO_0011702 dilated cardiomyopathy type 1L|SGCD familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in SGCD|cardiomyopathy, dilated, type 1L|cardiomyopathy, dilated, 1L|CMD1L|cardiomyopathy, dilated, 1L; CMD1L UBERON:0007590 cuboidal oviduct epithelium biolink:AnatomicalEntity mondo A cuboidal epithelium that is part of a oviduct. http://purl.obolibrary.org/obo/UBERON_0007590 MONDO:0011701 inflammatory bowel disease 4 biolink:Disease mondo MESH:C564680|DOID:0110903|UMLS:C1847691|OMIM:606675 An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12. http://identifiers.org/omim/606675|MESH:C564680|DOID:0110903|UMLS:C1847691 http://purl.obolibrary.org/obo/MONDO_0011701 inflammatory bowel disease type 4|IBD4|inflammatory bowel disease 4|inflammatory bowel disease 4; IBD4 MONDO:0011704 GLC1B biolink:Disease mondo OMIM:606689 http://identifiers.org/omim/606689 http://purl.obolibrary.org/obo/MONDO_0011704 glaucoma 1, open angle, B; GLC1B|GLC1B|glaucoma 1, open angle, B NCBITaxon:2682482 Mastigamoebida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2682482 MONDO:0011703 spongiform encephalopathy with neuropsychiatric features biolink:Disease mondo OMIM:606688|MESH:C564678|UMLS:C1847650 http://identifiers.org/omim/606688|MESH:C564678|UMLS:C1847650 http://purl.obolibrary.org/obo/MONDO_0011703 spongiform encephalopathy with neuropsychiatric features MONDO:0011706 Kufor-Rakeb syndrome biolink:Disease mondo DOID:0060556|OMIM:606693|MESH:C537177|GARD:0009174|Orphanet:306674|ICD10:G23.0 Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. http://identifiers.org/omim/606693|DOID:0060556|UMLS:C1847640|ORPHA:306674|MESH:C537177 http://purl.obolibrary.org/obo/MONDO_0011706 Kufor-Rakeb syndrome; KRS|autosomal recessive Parkinson disease 9|Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia|Parkinson disease 9, autosomal recessive, juvenile-onset|ceroid lipofuscinosis, neuronal, 12|Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia|KRS|Parkinson disease type 9|KRPPD|park 9|PARK9|Kufor-Rakeb syndrome|Parkinson disease 9, autosomal recessive|autosomal recessive juvenile onset Parkinson disease 9 ordo_disease|clingen MONDO:0011705 lymphangioleiomyomatosis biolink:Disease mondo ICDO:9174/1|ICD10:J84.81|NCIT:C3725 A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites. NCIT:C3725 http://purl.obolibrary.org/obo/MONDO_0011705 lymphangioleiomyomatosis|LAM|lymphangiomyomatosis|lung lymphangioleiomyomatosis|pulmonary lymphangioleiomyomatosis|lymphangioleiomyomatosis; LAM|lymphangio-myomatosis gard_rare|ordo_disease MONDO:0011708 autosomal dominant nonsyndromic deafness 36 biolink:Disease mondo MESH:C564675|OMIM:606705|DOID:0110563|ICD10:H90.3|UMLS:C1847626 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. http://identifiers.org/omim/606705|DOID:0110563|MESH:C564675|UMLS:C1847626 http://purl.obolibrary.org/obo/MONDO_0011708 deafness, autosomal dominant 36; DFNA36|autosomal dominant nonsyndromic deafness caused by mutation in TMC1|deafness, autosomal dominant 36|autosomal dominant deafness 36|deafness, autosomal dominant type 36|DFNA36|autosomal dominant nonsyndromic deafness type 36|TMC1 autosomal dominant nonsyndromic deafness clingen NCBITaxon:42740 Opalinata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42740 Slopalinida MONDO:0011707 familial dyskinesia and facial myokymia biolink:Disease mondo MESH:C564676|GARD:0012722|ICD10:G51.4|SCTID:763352005|Orphanet:324588|OMIM:606703|UMLS:C1847627 Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. SNOMEDCT:763352005|http://identifiers.org/omim/606703|MESH:C564676|ORPHA:324588|UMLS:C1847627 http://purl.obolibrary.org/obo/MONDO_0011707 FDFM|dyskinesia, familial, with facial myokymia|dyskinesia, familial, with facial myokymia; FDFM|ADCY5-related dyskinesia ordo_disease HGNC:3261 EIF2B5 biolink:OntologyClass mondo http://identifiers.org/hgnc/3261 HGNC:3260 EIF2B4 biolink:OntologyClass mondo http://identifiers.org/hgnc/3260 MONDO:0011711 specific language impairment 2 biolink:Disease mondo OMIM:606712|UMLS:C1847605 http://identifiers.org/omim/606712|UMLS:C1847605 http://purl.obolibrary.org/obo/MONDO_0011711 SLI2|specific language impairment quantitative trait locus on chromosome 19|specific language impairment 2; SLI2|specific language impairment 2 UBERON:0007592 ciliated columnar epithelium biolink:AnatomicalEntity mondo Simple columnar epithelium in which the luminal side of the cells bears cilia. Examples: epithelium of trachea, epithelium of uterine tube.[FMA] http://purl.obolibrary.org/obo/UBERON_0007592 MONDO:0011710 specific language impairment 1 biolink:Disease mondo OMIM:606711|UMLS:C1847614 http://identifiers.org/omim/606711|UMLS:C1847614 http://purl.obolibrary.org/obo/MONDO_0011710 SLI1|specific language impairment quantitative trait locus on chromosome 16|specific language impairment 1; SLI1|specific language impairment 1 HGNC:3267 EIF2S3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3267 MONDO:0011700 inflammatory bowel disease 6 biolink:Disease mondo MESH:C564681|DOID:0110907|OMIM:606674|UMLS:C1847692 An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13. http://identifiers.org/omim/606674|MESH:C564681|DOID:0110907|UMLS:C1847692 http://purl.obolibrary.org/obo/MONDO_0011700 inflammatory bowel disease 6; IBD6|inflammatory bowel disease 6|inflammatory bowel disease type 6|IBD6 UBERON:0007589 ciliated columnar oviduct epithelium biolink:AnatomicalEntity mondo A ciliated columnar epithelium that is part of a oviduct. http://purl.obolibrary.org/obo/UBERON_0007589 uterine tube epithelium|epithelium of uterine tube MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome biolink:Disease mondo GARD:0000238|SCTID:716180009|Orphanet:2724|MESH:C537740|OMIM:164330|UMLS:C1834013 Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. http://identifiers.org/omim/164330|SNOMEDCT:716180009|UMLS:C1834013|ORPHA:2724|MESH:C537740 http://purl.obolibrary.org/obo/MONDO_0008118 odontoma dysphagia syndrome|Odontomatosis (multiple odontomas) with dysphagia|odontoma-dysphagia syndrome|boder syndrome ordo_malformation_syndrome MONDO:0008119 spinocerebellar ataxia type 1 biolink:Disease mondo NCIT:C129982|GARD:0004071|UMLS:C0752120|SCTID:715748006|ICD10:G11.8|DOID:0050954|Orphanet:98755|OMIM:164400 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. NCIT:C129982|DOID:0050954|http://identifiers.org/omim/164400|SNOMEDCT:715748006|UMLS:C0752120|ORPHA:98755 http://purl.obolibrary.org/obo/MONDO_0008119 OPCA1|ATXN1 autosomal dominant cerebellar ataxia type I|cerebelloparenchymal disorder 1|spinocerebellar atrophy 1|spinocerebellar ataxia 1|spinocerebellar ataxia type 1|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1|OPCA 4|olivopontocerebellar atrophy 4|spinocerebellar ataxia 1; Sca1|OPCA4|OPCA 1|Menzel type OPCA|olivopontocerebellar atrophy 1|Schut-haymaker type OPCA|Sca1 ordo_disease MONDO:0008116 oculopharyngeal muscular dystrophy biolink:Disease mondo UMLS:C0270952|GARD:0007245|NCIT:C84942|ICD10:G71.0|SCTID:77097004|Orphanet:270|DOID:11719|MESH:D039141|OMIM:164300|MedDRA:10052181 Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness. http://identifiers.org/omim/164300|SNOMEDCT:77097004|DOID:11719|NCIT:C84942|MESH:D039141|MEDDRA:10052181|ORPHA:270|UMLS:C0270952 http://purl.obolibrary.org/obo/MONDO_0008116 oculopharyngeal muscular dystrophy|OPMD|oculopharyngeal muscular dystrophy; OPMD|muscular dystrophy, oculopharyngeal gard_rare|ordo_disease MONDO:0011768 myasthenia gravis with thymus hyperplasia biolink:Disease mondo OMIM:607085|UMLS:C1846838|MESH:C564628 UMLS:C1846838|http://identifiers.org/omim/607085|MESH:C564628 http://purl.obolibrary.org/obo/MONDO_0011768 myasthenia gravis with thymus hyperplasia|Myas1 CL:0000842 mononuclear cell biolink:Cell mondo BTO:0000878|FMA:86713|CALOHA:TS-0768 A leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/CL_0000842 peripheral blood mononuclear cell|mononuclear leukocyte MONDO:0011767 autosomal recessive nonsyndromic deafness 31 biolink:Disease mondo DOID:0110490|ICD10:H90.3|UMLS:C1846839|MESH:C564629|OMIM:607084 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene. UMLS:C1846839|http://identifiers.org/omim/607084|DOID:0110490|MESH:C564629 http://purl.obolibrary.org/obo/MONDO_0011767 autosomal recessive nonsyndromic deafness type 31|WHRN autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 31|deafness, autosomal recessive 31|DFNB31|deafness, autosomal recessive 31; DFNB31|autosomal recessive deafness 31|autosomal recessive nonsyndromic deafness caused by mutation in WHRN|whirler, mouse, homolog of CL:0000843 follicular B cell biolink:Cell mondo A resting mature B cell that has the phenotype IgM-positive, IgD-positive, CD23-positive and CD21-positive, and found in the B cell follicles of the white pulp of the spleen or the corticol areas of the peripheral lymph nodes. This cell type is also described as being CD19-positive, B220-positive, AA4-negative, CD43-negative, and CD5-negative. http://purl.obolibrary.org/obo/CL_0000843 Fo B-cell|follicular B-cell|follicular B lymphocyte|follicular B-lymphocyte|Fo B cell MONDO:0008117 obsolete oculopharyngodistal myopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008117 MONDO:0008114 obsessive-compulsive disorder biolink:Disease mondo COHD:440374|EFO:0004242|NCIT:C88411|MESH:D009771|OMIM:164230|SCTID:191736004|ICD10:F42|DOID:10933|ICD9:300.3 A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. SNOMEDCT:191736004|DOID:10933|NCIT:C88411|MESH:D009771|http://identifiers.org/omim/164230 http://purl.obolibrary.org/obo/MONDO_0008114 OCD|obsessive-compulsive disorder; OCD|obsessive compulsive disorder|Anancastic neurosis|obsessive-compulsive disorder CL:0000845 marginal zone B cell biolink:Cell mondo A mature B cell that is located in the marginal zone of the spleen with the phenotype CD23-negative and CD21-positive and expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL. This cell type is also described as being CD19-positive, B220-positive, IgM-high, AA4-negative, CD35-high. http://purl.obolibrary.org/obo/CL_0000845 marginal zone B-lymphocyte|MZ B cell|MZ B-cell|MZ B lymphocyte|MZ B-lymphocyte|marginal zone B-cell|marginal zone B lymphocyte MONDO:0008115 Feingold syndrome type 1 biolink:Disease mondo SCTID:702431004|ICD9:759.89|ICD10:Q87.8|OMIM:164280|Orphanet:391641|UMLS:CN204984 Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies. UMLS:CN204984|ORPHA:391641|SNOMEDCT:702431004|http://identifiers.org/omim/164280 http://purl.obolibrary.org/obo/MONDO_0008115 digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1|oculodigitoesophagoduodenal syndrome|microcephaly-oculo-digito-esophageal-duodenal syndrome|FS1|microcephaly-digital anomalies-normal intelligence syndrome type 1|Feingold syndrome|Mmt syndrome|Oded syndrome|microcephaly, intellectual disability, and tracheoesophageal fistula syndrome|microcephaly and digital abnormalities with normal intelligence|oculo-digito-esophageal-duodenal syndrome type 1|ODED syndrome type 1|Feingold syndrome 1; FGLDS1|Feingold syndrome 1|MODED syndrome type 1|Feingold syndrome caused by mutation in MYCN|Brunner-Winter syndrome type 1|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|MYCN Feingold syndrome|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1|Feingold syndrome type 1|FGLDS1|MMT type 1 ordo_clinical_subtype NCBITaxon:40141 Sigmodontinae organism taxon mondo PMID:15019624|GC_ID:1|PMID:15371245 http://purl.obolibrary.org/obo/NCBITaxon_40141 MONDO:0011769 obsolete familial aortic dissection biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011769 MONDO:0008112 Goldenhar syndrome biolink:Disease mondo GARD:0006540|MESH:D006053|ICD9:759.89|NCIT:C84740|OMIM:164210|Orphanet:374|ICD10:Q87.0|SCTID:367462009|UMLS:C0265240|DOID:2907 A common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance. DOID:2907|NCIT:C84740|SNOMEDCT:367462009|UMLS:C0265240|ORPHA:374|UMLS:C0432130|http://identifiers.org/omim/164210|MESH:D006053 http://purl.obolibrary.org/obo/MONDO_0008112 Oav dysplasia|first arch syndrome|oculoauriculovertebral syndrome|facioauriculovertebral dysplasia|first and second branchial arch syndrome|HFM|Goldenhar syndrome|hemifacial microsomia|oculoauriculovertebral spectrum|Fav sequence|oculoauriculovertebral dysplasia|OAVS|Expanded spectrum of hemifacial microsomia|facioauriculovertebral sequence|Goldenhar disease|facio-auriculo-vertebral spectrum|OAV dysplasia|OAV (oculoauriculovertebral) dysplasia|Expanded spectrum hemifacial microsomia|hemifacial microsomia; HFM|otomandibular dysostosis ordo_malformation_syndrome MONDO:0008113 Schilbach-Rott syndrome biolink:Disease mondo SCTID:721902002|MESH:C563509|OMIM:164220|Orphanet:2353|GARD:0002930|ICD10:Q87.8 Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. MESH:C563509|SNOMEDCT:721902002|ORPHA:2353|http://identifiers.org/omim/164220 http://purl.obolibrary.org/obo/MONDO_0008113 cleft palate, hypotelorism, and hypospadias|BRSS|ocular hypotelorism, submucosal cleft palate, and hypospadias|hypotelorism cleft palate hypospadias|blepharofacioskeletal syndrome|hypotelorism-cleft palate-hypospadias syndrome|Schilbach-Rott syndrome gard_rare|ordo_malformation_syndrome MONDO:0008110 ocular dominance biolink:Disease mondo OMIM:164190 http://identifiers.org/omim/164190 http://purl.obolibrary.org/obo/MONDO_0008110 ocular dominance MONDO:0008111 oculodentodigital dysplasia biolink:Disease mondo ICD9:759.89|ICD10:Q87.8|SCTID:38215007|DOID:0060291|MESH:C563160|MedDRA:10063691|OMIM:164200|Orphanet:2710|GARD:0007239 Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities. SNOMEDCT:38215007|ORPHA:2710|MEDDRA:10063691|http://identifiers.org/omim/164200|UMLS:C0812437|MESH:C563160|DOID:0060291 http://purl.obolibrary.org/obo/MONDO_0008111 oculodentodigital dysplasia|oculo-dento-digital dysplasia|Meyer-Schwickerath syndrome|oculodentodigital syndrome|ODDD syndrome|oculodentoosseous dysplasia|oculodentodigital dysplasia; ODDD|ODDD|oculo-dento-digital syndrome|odd syndrome ordo_malformation_syndrome|gard_rare MONDO:0011771 distal spinal muscular atrophy type 3 biolink:Disease mondo ICD10:G12.2|OMIM:607088|UMLS:C1846823|MESH:C564626|Orphanet:139547 Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. http://identifiers.org/omim/607088|MESH:C564626|ORPHA:139547|UMLS:C1846823 http://purl.obolibrary.org/obo/MONDO_0011771 dHMN3 and dHMN4|dHMN4|spinal muscular atrophy, distal, autosomal recessive, 3; dSMA3|dHMN3|HMN 4|dSMA3|HMN 3|spinal muscular atrophy, distal, autosomal recessive, 3|autosomal recessive distal spinal muscular atrophy type 3|neuronopathy, distal hereditary motor, type 4|distal hereditary motor neuropathy type 3 and type 4|neuropathy, distal hereditary motor, type 4|neuronopathy, distal hereditary motor, type 3 ordo_disease MONDO:0011770 aortic aneurysm, familial thoracic 2 biolink:Disease mondo MESH:C564627|UMLS:C1846837|OMIM:607087 MESH:C564627|UMLS:C1846837|http://identifiers.org/omim/607087 http://purl.obolibrary.org/obo/MONDO_0011770 aortic aneurysm, familial thoracic 2|FAA2|AAT2|aortic aneurysm, familial thoracic 2; AAT2 MONDO:0011773 anauxetic dysplasia biolink:Disease mondo OMIMPS:607095|UMLS:CN029084|DOID:0050640|Orphanet:93347|MESH:C538256|ICD10:Q77.7|UMLS:C1846796|GARD:0009657 A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. http://identifiers.org/omim/607095|DOID:0050640|ORPHA:93347|UMLS:CN029084|MESH:C538256|UMLS:C1846796 http://purl.obolibrary.org/obo/MONDO_0011773 spondylometaepiphyseal dysplasia, anauxetic type|anauxetic dysplasia 1|anauxetic dysplasia|spondyloepimetaphyseal dysplasia, Menger type|anauxetic dysplasia type 1|spondyloepimetaphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia anauxetic type|spondylometaepiphyseal dysplasia Menger type|anauxetic dysplasia 1; ANXD1|ANXD1 prototype_pattern|ordo_disease MONDO:0011772 B4GALT1-CDG biolink:Disease mondo OMIM:607091|DOID:0070256|MESH:C535753|SCTID:725587007|ICD10:E77.8|UMLS:C2931009|GARD:0009841|Orphanet:79332 B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. http://identifiers.org/omim/607091|SNOMEDCT:725587007|ORPHA:79332|MESH:C535753|UMLS:C2931009|DOID:0070256 http://purl.obolibrary.org/obo/MONDO_0011772 carbohydrate deficient glycoprotein syndrome type IId|CDG-IId|congenital disorder of glycosylation, type IId; CDG2D|CDG2D|congenital disorder of glycosylation, type IId|Beta-1,4-galactosyltransferase deficiency|CDG 2D|B4GALT1-CDG (CDG-IId)|congenital disorder of glycosylation type IId|CDG syndrome type IId|congenital disorder of glycosylation type 2d|CDG IId ordo_disease MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 biolink:Disease mondo UMLS:C1846758|OMIM:607107 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene. UMLS:C1846758|http://identifiers.org/omim/607107 http://purl.obolibrary.org/obo/MONDO_0011775 nasopharyngeal cancer|nasopharyngeal carcinoma|nasopharyngeal carcinoma caused by mutation in TP53|Npca|NPC|TP53 nasopharyngeal carcinoma|nasopharyngeal carcinoma, susceptibility to, 1 predisposition MONDO:0011774 autosomal recessive nonsyndromic deafness 30 biolink:Disease mondo DOID:0110489|UMLS:C1846784|OMIM:607101|MESH:C564624|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene. UMLS:C1846784|http://identifiers.org/omim/607101|DOID:0110489|MESH:C564624 http://purl.obolibrary.org/obo/MONDO_0011774 autosomal recessive deafness 30|autosomal recessive nonsyndromic deafness type 30|DFNB30|deafness, autosomal recessive type 30|MYO3A autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 30|deafness, autosomal recessive 30; DFNB30|autosomal recessive nonsyndromic deafness caused by mutation in MYO3A MONDO:0011777 Alzheimer disease 8 biolink:Disease mondo OMIM:607116|MESH:C564622|DOID:0110041|UMLS:C1846735|ICD10:G30 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. UMLS:C1846735|http://identifiers.org/omim/607116|DOID:0110041|MESH:C564622 http://purl.obolibrary.org/obo/MONDO_0011777 Alzheimer disease 8|Alzheimer disease, familial, 8|Ad8|Alzheimer's disease 8|Alzheimer disease, familial 8|Alzheimer disease type 8|AD8|Alzheimer's disease type 8 MONDO:0011776 CINCA syndrome biolink:Disease mondo ICD10:E85.0|SCTID:239826001|GARD:0001356|ICD9:759.89|OMIM:607115|NCIT:C116380|DOID:0090029|Orphanet:1451 Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. http://identifiers.org/omim/607115|ORPHA:1451|NCIT:C116380|DOID:0090029|SNOMEDCT:239826001 http://purl.obolibrary.org/obo/MONDO_0011776 infantile-onset multisystem inflammatory disease|IOMID syndrome|CINCA syndrome; CINCA|neonatal onset multisystem inflammatory disease|CINCA/NOMID|Cryopyrin-associated periodic syndrome 3|NOMID syndrome|NOMID|chronic infantile neurological cutaneous articular syndrome|Prieur Griscelli syndrome|neonatal-onset multisystem inflammatory disease|multisystem inflammatory disease, neonatal-onset|IOMID|infantile onset multisystem inflammatory disease|cryopyrin-associated periodic syndrome 3|chronic neurologic cutaneous and articular syndrome|CINCA syndrome|CINCA|chronic infantile neurological cutaneous and articular syndrome|Prieur-Griscelli syndrome ordo_disease UBERON:0020550 auricular blood vessel biolink:AnatomicalEntity mondo A blood vessel that supplies or drains an ear. http://purl.obolibrary.org/obo/UBERON_0020550 HGNC:3287 EIF4E biolink:OntologyClass mondo http://identifiers.org/hgnc/3287 MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination biolink:Disease mondo UMLS:C1833836|MESH:C563499|OMIM:165098 MESH:C563499|UMLS:C1833836|http://identifiers.org/omim/165098 http://purl.obolibrary.org/obo/MONDO_0008129 ophthalmoplegia, familial total, with iris transillumination MONDO:0011757 brachydactyly type A1B biolink:Disease mondo MESH:C564635|UMLS:C1846949|DOID:0110974|OMIM:607004 UMLS:C1846949|http://identifiers.org/omim/607004|MESH:C564635|DOID:0110974 http://purl.obolibrary.org/obo/MONDO_0011757 brachydactyly, type A1, B; BDA1B|BDA1B|brachydactyly, type A1, B MONDO:0008127 ophthalmomandibulomelic dysplasia biolink:Disease mondo UMLS:C1833872|GARD:0004365|MESH:C563501|OMIM:164900|ICD10:Q87.8|Orphanet:2741|SCTID:715484003 Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. MESH:C563501|http://identifiers.org/omim/164900|SNOMEDCT:715484003|UMLS:C1833872|ORPHA:2741 http://purl.obolibrary.org/obo/MONDO_0008127 ophthalmomandibulomelic dysplasia|Ophthalmo-mandibulo-melic dysplasia|OMM syndrome|Omm syndrome|Pillay syndrome ordo_malformation_syndrome MONDO:0008128 ophthalmoplegia, familial static biolink:Disease mondo UMLS:C1833839|MESH:C563500|OMIM:165000 MESH:C563500|UMLS:C1833839|http://identifiers.org/omim/165000 http://purl.obolibrary.org/obo/MONDO_0008128 external ophthalmoplegia, nonprogressive, congenital hereditary|ophthalmoplegia, familial static MONDO:0011756 Senior-Loken syndrome 4 biolink:Disease mondo MESH:C537581|UMLS:C1846979|OMIM:606996 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. UMLS:C1846979|MESH:C537581|http://identifiers.org/omim/606996 http://purl.obolibrary.org/obo/MONDO_0011756 SENIOR-Loken syndrome 4; SLSN4|Senior-Loken syndrome type 4|SLSN4|NPHP4 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in NPHP4|Senior-Loken syndrome 4 HP:0002900 Hypokalemia biolink:PhenotypicFeature mondo SNOMEDCT_US:43339004|UMLS:C0020621|MSH:D007008|SNOMEDCT_US:166690008 An abnormally decreased potassium concentration in the blood. http://purl.obolibrary.org/obo/HP_0002900 Low blood potassium levels MONDO:0008125 nonsyndromic congenital nail disorder 5 biolink:Disease mondo OMIM:164800|DOID:0080083|UMLS:C1833909|MESH:C563503 http://identifiers.org/omim/164800|MESH:C563503|DOID:0080083|UMLS:C1833909 http://purl.obolibrary.org/obo/MONDO_0008125 nail disorder, nonsyndromic congenital, 5; NDNC5|onycholysis, partial, with scleronychia|nonsyndromic congenital nail disorder type 5|nail disorder, nonsyndromic congenital, 5|onycholysis, hereditary distal|NDNC5 MONDO:0011759 Hurler-Scheie syndrome biolink:Disease mondo ICD10:E76.0|SCTID:73123008|UMLS:C0086431|NCIT:C122782|Orphanet:93476|GARD:0012560|MedDRA:10056916|OMIM:607015 Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. ORPHA:93476|MEDDRA:10056916|UMLS:C0086431|SNOMEDCT:73123008|http://identifiers.org/omim/607015|NCIT:C122782 http://purl.obolibrary.org/obo/MONDO_0011759 Scheie disease mps type 1s|mucopolysaccharidosis type IH/S|Scheie's syndrome|MPS1H/S|Hurler–Scheie syndrome|MPS1-HS|Hurler-Scheie syndrome|mucopolysaccharidosis type 1H/S|mucopolysaccharidosis type I-S|l-iduronidase deficiency, Scheie type|MPS I H-S|MPSIH/S|mucopolysaccharidosis IH/S|mucopolysaccharidosis type Ih/S|mucopolysaccharidosis type I mild form|mucopolysaccharidosis, mps-I-s ordo_clinical_subtype MONDO:0011758 Hurler syndrome biolink:Disease mondo NCIT:C61261|GARD:0012559|Orphanet:93473|OMIM:607014|ICD10:E76.0 Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. ORPHA:93473|http://identifiers.org/omim/607014|NCIT:C61261 http://purl.obolibrary.org/obo/MONDO_0011758 mucopolysaccharidosis type IH|mucopolysaccharidosis type 1H|MPS1H|Hurler syndrome|Hurler disease|MPS1-H|mucopolysaccharidosis IH|MPSIH|MPS I H ordo_clinical_subtype MONDO:0008126 obsolete oncogene Yuasa biolink:Disease mondo OMIM:164891 http://identifiers.org/omim/164891 http://purl.obolibrary.org/obo/MONDO_0008126 oncogene Yuasa HP:0002901 Hypocalcemia biolink:PhenotypicFeature mondo UMLS:C0020598|MSH:D006996|SNOMEDCT_US:5291005 An abnormally decreased calcium concentration in the blood. http://purl.obolibrary.org/obo/HP_0002901 Low blood calcium levels|Hypocalcaemia MONDO:0008123 autosomal dominant omodysplasia biolink:Disease mondo GARD:0003643|ICD10:Q78.8|Orphanet:93328|SCTID:725165009|OMIM:164745|MESH:C567664 Autosomal dominant form of omodysplasia. ORPHA:93328|MESH:C567664|SNOMEDCT:725165009|http://identifiers.org/omim/164745 http://purl.obolibrary.org/obo/MONDO_0008123 OMOD2|omodysplasia 2; OMOD2|omodysplasia, autosomal dominant|omodysplasia 2 ordo_clinical_subtype MONDO:0008124 omphalocele, autosomal biolink:Disease mondo OMIM:164750|GARD:0004218|UMLS:C3277235 UMLS:C3277235|http://identifiers.org/omim/164750 http://purl.obolibrary.org/obo/MONDO_0008124 type - hypogastric - defect in the caudal fold|omphalocele, autosomal|type - epigastric - defect in the cephalic fold|chromosome 1P31 Duplication syndrome|paraomphalocele MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair biolink:Disease mondo MESH:C563506|UMLS:C1833997|OMIM:164680 UMLS:C1833997|http://identifiers.org/omim/164680|MESH:C563506 http://purl.obolibrary.org/obo/MONDO_0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair HP:0002904 Hyperbilirubinemia biolink:PhenotypicFeature mondo SNOMEDCT_US:26165005|UMLS:C0311468 An increased amount of bilirubin in the blood. http://purl.obolibrary.org/obo/HP_0002904 High blood bilirubin levels HP:0002905 Hyperphosphatemia biolink:PhenotypicFeature mondo UMLS:C0553706|UMLS:C0085681|MSH:D054559|SNOMEDCT_US:20165001 An abnormally increased phosphate concentration in the blood. http://purl.obolibrary.org/obo/HP_0002905 High blood phosphate levels MONDO:0008122 olivopontocerebellar atrophy 5 biolink:Disease mondo MESH:C563505|UMLS:C1833995|OMIM:164700 UMLS:C1833995|http://identifiers.org/omim/164700|MESH:C563505 http://purl.obolibrary.org/obo/MONDO_0008122 OPCA with dementia and extrapyramidal signs|olivopontocerebellar atrophy type 5|OPCA V|olivopontocerebellar atrophy V; OPCA V MONDO:0011760 Scheie syndrome biolink:Disease mondo Orphanet:93474|OMIM:607016|DOID:0060222|ICD10:E76.0|GARD:0012561|UMLS:C0026708|NCIT:C61265 Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. http://identifiers.org/omim/607016|UMLS:C0026708|NCIT:C61265|DOID:0060222|ORPHA:93474 http://purl.obolibrary.org/obo/MONDO_0011760 MPS V|MPS5, formerly|MPS1-S|mucopolysaccharidosis Is|MPS I S|mucopolysaccharidosis type IS|MPS1S|mucopolysaccharidosis type 1S|mucopolysaccharidosis type V, formerly|mucopolysaccharidosis type V|Scheie syndrome|MPSIS|MPS V, formerly ordo_clinical_subtype|gard_rare MONDO:0008120 spinocerebellar ataxia type 7 biolink:Disease mondo DOID:0050958|OMIM:164500|ICD10:G11.8|Orphanet:94147|SCTID:715726000|NCIT:C126562|UMLS:C0752125|GARD:0004955 Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. SNOMEDCT:715726000|UMLS:C0752125|DOID:0050958|http://identifiers.org/omim/164500|NCIT:C126562|ORPHA:94147 http://purl.obolibrary.org/obo/MONDO_0008120 ADCA, type II|autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7|OPCA with macular Degeneration and external ophthalmoplegia|OPCA 3|olivopontocerebellar atrophy 3|Adca, type 2|cerebellar syndrome-pigmentary maculopathy syndrome|OPCA with retinal Degeneration|ATXN7 autosomal dominant cerebellar ataxia type II|OPCA3|OPCA III|ataxia with pigmentary retinopathy|spinocerebellar ataxia 7; SCA7|spinocerebellar ataxia 7|spinocerebellar ataxia type 7|SCA7|autosomal dominant cerebellar ataxia, type 2 ordo_disease HGNC:3296 EIF4G1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3296 MONDO:0011762 autosomal recessive nonsyndromic deafness 22 biolink:Disease mondo MESH:C564633|OMIM:607039|DOID:0110480|ICD10:H90.3|UMLS:C1846896 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene. UMLS:C1846896|http://identifiers.org/omim/607039|DOID:0110480|MESH:C564633 http://purl.obolibrary.org/obo/MONDO_0011762 autosomal recessive nonsyndromic deafness caused by mutation in OTOA|OTOA autosomal recessive nonsyndromic deafness|autosomal recessive deafness 22|DFNB22|deafness, autosomal recessive type 22|autosomal recessive nonsyndromic deafness type 22|deafness, autosomal recessive 22; DFNB22|deafness, autosomal recessive 22 MONDO:0011761 autosomal dominant nonsyndromic deafness 21 biolink:Disease mondo MESH:C564634|UMLS:C1846922|ICD10:H90.3|OMIM:607017|DOID:0110551 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3. UMLS:C1846922|http://identifiers.org/omim/607017|DOID:0110551|MESH:C564634 http://purl.obolibrary.org/obo/MONDO_0011761 autosomal dominant nonsyndromic deafness type 21|deafness, autosomal dominant 21|deafness, autosomal dominant 21; DFNA21|DFNA21|autosomal dominant deafness 21 MONDO:0011764 autosomal dominant Parkinson disease 8 biolink:Disease mondo UMLS:C1846862|OMIM:607060|DOID:0060371 Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene. UMLS:C1846862|http://identifiers.org/omim/607060|DOID:0060371 http://purl.obolibrary.org/obo/MONDO_0011764 PARK8|autosomal dominant Parkinson's disease 8|Parkinson disease 8, autosomal dominant; PARK8|Parkinson disease 8, autosomal dominant|autosomal dominant Parkinson disease type 8|LRRK2 Parkinson disease|Parkinson disease caused by mutation in LRRK2 MONDO:0011763 T-box 24 biolink:Disease mondo OMIM:607044 http://identifiers.org/omim/607044 http://purl.obolibrary.org/obo/MONDO_0011763 T-box type 24|Tbx24|T-box 24 MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome biolink:Disease mondo UMLS:C2751325|OMIM:607080|MESH:C567773|ICD10:Q56.1|Orphanet:168563 http://identifiers.org/omim/607080|MESH:C567773|UMLS:C2751325|ORPHA:168563 http://purl.obolibrary.org/obo/MONDO_0011766 46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy ordo_malformation_syndrome MONDO:0011765 multiple epiphyseal dysplasia type 5 biolink:Disease mondo MESH:C535505|GARD:0009794|Orphanet:93311|UMLS:C4275060|SCTID:715674008|DOID:0070299|UMLS:C1846843|OMIM:607078|ICD10:Q77.3 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. UMLS:C1846843|http://identifiers.org/omim/607078|MESH:C535505|SNOMEDCT:715674008|UMLS:C4275060|ORPHA:93311|DOID:0070299 http://purl.obolibrary.org/obo/MONDO_0011765 BHMED|epiphyseal dysplasia, multiple, 5; EDM5|multiple epiphyseal dysplasia (disease) caused by mutation in MATN3|Microepiphyseal dysplasia, bilateral hereditary|epiphyseal dysplasia, multiple, type 5|epiphyseal dysplasia, multiple, 5|epiphyseal dysplasia multiple 5|bilateral hereditary micro-epiphyseal dysplasia|EDM5|MATN3 multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia, MATN3-related|multiple epiphyseal dysplasia 5|Polyepiphyseal dysplasia type 5|multiple epiphyseal dysplasia, MATN3 related|MED5 ordo_disease CL:0000828 thromboblast biolink:Cell mondo A progenitor cell of the thrombocyte, a nucleated blood cell involved in coagulation typically seen in birds and other non-mammalian vertebrates. http://purl.obolibrary.org/obo/CL_0000828 CL:0000829 basophilic myeloblast biolink:Cell mondo A myeloblast committed to the basophil lineage. http://purl.obolibrary.org/obo/CL_0000829 MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch biolink:Disease mondo OMIM:606895|GARD:0008554|UMLS:C1847185|MESH:C538148 UMLS:C1847185|MESH:C538148|http://identifiers.org/omim/606895 http://purl.obolibrary.org/obo/MONDO_0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch|distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch gard_rare CL:0000820 B-1a B cell biolink:Cell mondo A B-1 B cell that has the phenotype CD5-positive. http://purl.obolibrary.org/obo/CL_0000820 B1a B-lymphocyte|CD5(+) B1 cell|CD5-positive B1 cell|B-1a B-cell|B-1a B lymphocyte|B1a cell|B1a B cell|B-1a B-lymphocyte|B1a B-cell|B1a B lymphocyte|CD5+ B1 cell MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery biolink:Disease mondo GARD:0009227|OMIM:606894|UMLS:C1847196|MESH:C535722 UMLS:C1847196|http://identifiers.org/omim/606894|MESH:C535722 http://purl.obolibrary.org/obo/MONDO_0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery|duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery gard_rare NCBITaxon:40121 Erythroparvovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_40121 Erythrovirus CL:0000821 B-1b B cell biolink:Cell mondo A B-1 B cell that has the phenotype CD5-negative, but having other phenotypic attributes of a B-1 B cell. http://purl.obolibrary.org/obo/CL_0000821 B1b B-lymphocyte|B-1b B-cell|B-1b B lymphocyte|B1b cell|B1b B cell|B-1b B-lymphocyte|B1b B-cell|B1b B lymphocyte MONDO:0011748 Usher syndrome type 1G biolink:Disease mondo ICD10:H35.5|OMIM:606943|MESH:C564643|UMLS:C1847089|DOID:0110834 Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene. DOID:0110834|UMLS:C1847089|http://identifiers.org/omim/606943|MESH:C564643 http://purl.obolibrary.org/obo/MONDO_0011748 Usher syndrome type Ig|USHER syndrome, type Ig|Usher syndrome, type 1G|USH1G Usher syndrome|USH1G|Usher syndrome caused by mutation in USH1G|USHER syndrome, type Ig; USH1G CL:0000822 B-2 B cell biolink:Cell mondo A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative. http://purl.obolibrary.org/obo/CL_0000822 B2 B-lymphocyte|B-0 B cell|B-2 B-cell|B-2 B lymphocyte|B2 cell|B-2 B-lymphocyte|B2 B cell|B2 B-cell|B2 B lymphocyte MONDO:0011747 dyslexia, susceptibility to, 5 biolink:Disease mondo OMIM:606896 http://identifiers.org/omim/606896 http://purl.obolibrary.org/obo/MONDO_0011747 dyslexia, susceptibility to, 5|DYX5|dyslexia, susceptibility to, 5; DYX5 predisposition CL:0000823 immature natural killer cell biolink:Cell mondo A natural killer cell that is developmentally immature and expresses natural killer cell receptors (NKR). http://purl.obolibrary.org/obo/CL_0000823 immature NK cell|p-NK MONDO:0011749 oculocutaneous albinism type 1B biolink:Disease mondo OMIM:606952|ICD10:E70.3|DOID:0070095|MESH:C537729|Orphanet:79434|UMLS:C1847024|GARD:0000594 Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. UMLS:C1847024|DOID:0070095|MESH:C537729|http://identifiers.org/omim/606952|ORPHA:79434 http://purl.obolibrary.org/obo/MONDO_0011749 Yellow mutant albinism|OCA1B|oculocutaneous albinism, type 1B|Yellow oculocutaneous albinism|albinism, oculocutaneous, type IB; OCA1B|albinism, Yellow mutant type|Oca1-Ts|albinism, oculocutaneous, type IB|oculocutaneous albinism type IB|platinum oculocutaneous albinism|oculocutaneous albinism, Amish type|albinism, oculocutaneous, type 1B|albinism, oculocutaneous, type I, temperature-sensitive|Yellow albinism ordo_clinical_subtype|gard_rare CL:0000825 pro-NK cell biolink:Cell mondo A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. http://purl.obolibrary.org/obo/CL_0000825 NKP|preNK cell|natural killer cell progenitor|pro-natural killer cell|null cell CL:0000826 pro-B cell biolink:Cell mondo BTO:0003104 A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. http://purl.obolibrary.org/obo/CL_0000826 pro-B-lymphocyte|pre-pro B cell|progenitor B-lymphocyte|pre-B cell (Philadelphia nomenclature)|progenitor B cell|pro-B-cell|pro-B lymphocyte|progenitor B-cell|progenitor B lymphocyte CL:0000827 pro-T cell biolink:Cell mondo A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. http://purl.obolibrary.org/obo/CL_0000827 DN1 thymocyte|pro-T lymphocyte|DN1 cell|TN1 cell|progenitor T cell MONDO:0011751 COPD, severe early onset biolink:Disease mondo OMIM:606963 http://identifiers.org/omim/606963 http://purl.obolibrary.org/obo/MONDO_0011751 COPD|pulmonary disease, chronic obstructive; COPD|pulmonary disease, chronic obstructive, rate of decline of lung function 1N|pulmonary disease, chronic obstructive, Severe early-onset|Copd, Severe early-onset|pulmonary disease, chronic obstructive MONDO:0011750 obsolete insulinoma tumor suppressor gene locus biolink:Disease mondo OMIM:606960 http://identifiers.org/omim/606960 http://purl.obolibrary.org/obo/MONDO_0011750 insulinoma tumor suppressor gene locus MONDO:0011753 EIG2 biolink:Disease mondo OMIM:606972 http://identifiers.org/omim/606972 http://purl.obolibrary.org/obo/MONDO_0011753 EIG2|epilepsy, idiopathic generalized, susceptibility to, 2|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14|epilepsy, idiopathic generalized, susceptibility to, 2; EIG2 predisposition MONDO:0011752 nephronophthisis 4 biolink:Disease mondo SCTID:446989009|UMLS:C1847013|MESH:C564640|OMIM:606966|UMLS:C2959367|DOID:0111115 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. DOID:0111115|UMLS:C2959367|http://identifiers.org/omim/606966|MESH:C564640|SNOMEDCT:446989009|UMLS:C1847013 http://purl.obolibrary.org/obo/MONDO_0011752 juvenile nephronophthisis 4|nephronophthisis (disease) caused by mutation in NPHP4|nephronophthisis type 4|nephronophthisis 4; NPHP4|NPHP4|nephronophthisis 4, juvenile|NPHP4 nephronophthisis (disease)|nephronophthisis 4 MONDO:0011755 SLSN3 biolink:Disease mondo MESH:C564637|UMLS:C1846980|OMIM:606995 UMLS:C1846980|MESH:C564637|http://identifiers.org/omim/606995 http://purl.obolibrary.org/obo/MONDO_0011755 SLSN3|SENIOR-Loken syndrome 3|SENIOR-Loken syndrome 3; SLSN3 MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 biolink:Disease mondo UMLS:C1846990|ICD10:E27.4|OMIM:606984|Orphanet:99764|MESH:C564638 UMLS:C1846990|ORPHA:99764|http://identifiers.org/omim/606984|MESH:C564638 http://purl.obolibrary.org/obo/MONDO_0011754 aldosterone synthase deficiency unrelated to the aldosterone synthase gene|Fhha2|FHHA2|hyperreninemic hypoaldosteronism, familial, 2|aldosterone synthase deficiency unrelated to CYP11B2|hyperreninemic hypoaldosteronism, familial, type 2 ordo_etiological_subtype MONDO:0023726 mediastinal yolk sac tumor biolink:Disease mondo UMLS:C1334683|GARD:0008258|NCIT:C6443 An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome. NCIT:C6443|UMLS:C1334683 http://purl.obolibrary.org/obo/MONDO_0023726 yolk Sac tumor of mediastinum|mediastinum yolk sac tumor|EST|yolk Sac neoplasm of the mediastinum|yolk Sac neoplasm of mediastinum|mediastinal endodermal sinus tumors|mediastinal endodermal sinus tumor|mediastinal endodermal sinus neoplasm|endodermal sinus tumor of the mediastinum|endodermal sinus tumor of mediastinum|endodermal sinus neoplasm of the mediastinum|mediastinal yolk Sac tumor|endodermal sinus neoplasm of mediastinum|mediastinal yolk Sac neoplasm|yolk Sac tumor of the mediastinum CL:0000839 myeloid lineage restricted progenitor cell biolink:Cell mondo BTO:0004730|FMA:70339|CALOHA:TS-2099 A progenitor cell restricted to the myeloid lineage. http://purl.obolibrary.org/obo/CL_0000839 myeloid progenitor cell MONDO:0008109 ocular cicatricial pemphigoid biolink:Disease mondo UMLS:C1282359|GARD:0008759|SCTID:314757003|EFO:0008610|NCIT:C84939|OMIM:164185 Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. UMLS:C1282359|http://identifiers.org/omim/164185|SNOMEDCT:314757003|NCIT:C84939 http://purl.obolibrary.org/obo/MONDO_0008109 ocular cicatricial pemphigoid|cicatricial pemphigoid, ocular|pemphigoid, ocular cicatricial|ocular cicatricial pemphigoid; OCP|OCP gard_rare MONDO:0008107 nystagmus, hereditary vertical biolink:Disease mondo OMIM:164150|GARD:0009604|UMLS:C1834078|MESH:C537857 MESH:C537857|http://identifiers.org/omim/164150|UMLS:C1834078 http://purl.obolibrary.org/obo/MONDO_0008107 nystagmus, hereditary vertical|congenital hereditary vertical nystagmus|hereditary vertical nystagmus gard_rare NCBITaxon:40119 Parvovirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_40119 MONDO:0008108 oculocerebrocutaneous syndrome biolink:Disease mondo Orphanet:1647|UMLS:C0796092|MESH:C538088|SCTID:403554008|ICD9:759.89|OMIM:164180|ICD10:Q87.8|GARD:0000106 Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations. ORPHA:1647|http://identifiers.org/omim/164180|SNOMEDCT:403554008|UMLS:C0796092|MESH:C538088 http://purl.obolibrary.org/obo/MONDO_0008108 oculocerebrocutaneous syndrome|orbital cyst with cerebral and focal dermal malformations|oculo-cerebro-cutaneous syndrome|Delleman-Oorthuys syndrome|Leichtman-Wood-Rohn syndrome|OCC syndrome|OCCS|Delleman Oorthuys syndrome|Delleman syndrome gard_rare|ordo_malformation_syndrome MONDO:0008105 nose, anomalous shape of biolink:Disease mondo GARD:0010040|MESH:C538354|OMIM:164000 http://identifiers.org/omim/164000|MESH:C538354 http://purl.obolibrary.org/obo/MONDO_0008105 nose, anomalous shape of|potato Nose MONDO:0011735 hyper-IgM syndrome type 3 biolink:Disease mondo OMIM:606843|Orphanet:101090|GARD:0010579|ICD10:D80.5|DOID:0060023 A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells. ORPHA:101090|DOID:0060023|http://identifiers.org/omim/606843 http://purl.obolibrary.org/obo/MONDO_0011735 type 3 hyper-IgM immunodeficiency|hyper-IgM syndrome due to CD40 deficiency|CD40 deficiency|immunodeficiency with hyper IgM type 3|HIGM3|immunodeficiency with hyper-IgM, type 3|CD40 hyper-IgM syndrome|immunodeficiency with hyper-IgM, type 3; HIGM3|hyper-IgM syndrome caused by mutation in CD40|hyper-IgM syndrome 3|immunodeficiency with hyper-IgM type 3|hyper IgM syndrome 3 gard_rare|ordo_clinical_subtype CL:0000831 mast cell progenitor biolink:Cell mondo A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. http://purl.obolibrary.org/obo/CL_0000831 colony forming unit mast cell|CFU-MC|CFU-Mast|MCP MONDO:0008106 NYS2 biolink:Disease mondo MESH:C537854|GARD:0009599|OMIM:164100 MESH:C537854|http://identifiers.org/omim/164100 http://purl.obolibrary.org/obo/MONDO_0008106 NYSTAGMUS 2, congenital, autosomal dominant; NYS2|Nystagmus, congenital motor, 2|NYS2|Nystagmus congenital, motor 2|NYSTAGMUS 2, congenital, autosomal dominant MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods biolink:Disease mondo UMLS:C1847387|MESH:C564655|OMIM:606842 UMLS:C1847387|http://identifiers.org/omim/606842|MESH:C564655 http://purl.obolibrary.org/obo/MONDO_0011734 Cardioneuromyopathy with hyaline masses and nemaline rods MONDO:0011737 PARK10 biolink:Disease mondo OMIM:606852|MESH:C564653|UMLS:C1847360 http://identifiers.org/omim/606852|MESH:C564653|UMLS:C1847360 http://purl.obolibrary.org/obo/MONDO_0011737 Parkinson disease 10; PARK10|Parkinson disease, Age at onset of|Parkinson disease 10|PARK10 MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities biolink:Disease mondo UMLS:C1834143|OMIM:163850|MESH:C563512 MESH:C563512|http://identifiers.org/omim/163850|UMLS:C1834143 http://purl.obolibrary.org/obo/MONDO_0008103 noduli Cutanei, multiple, with urinary tract abnormalities MONDO:0008104 Noonan syndrome 1 biolink:Disease mondo NCIT:C75459|GARD:0007223|DOID:0060578|OMIM:163950 Noonan syndrome caused by mutations in the PTPN11 gene. DOID:0060578|http://identifiers.org/omim/163950|NCIT:C75459 http://purl.obolibrary.org/obo/MONDO_0008104 Turner phenotype with normal karyotype|NS1|female pseudo-Turner syndrome|Noonan syndrome type 1|Noonan syndrome|Noonan syndrome 1|Male Turner syndrome|pterygium colli syndrome|Noonan syndrome 1; NS1 MONDO:0011736 Cree mental retardation syndrome biolink:Disease mondo OMIM:606851|MESH:C564654|UMLS:C1847361 MESH:C564654|UMLS:C1847361|http://identifiers.org/omim/606851 http://purl.obolibrary.org/obo/MONDO_0011736 Cree intellectual disability syndrome|Cree mental retardation syndrome MONDO:0008101 familial supernumerary nipples biolink:Disease mondo ICD10:Q83.3|OMIM:163700|Orphanet:2456 Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported. http://identifiers.org/omim/163700|ORPHA:2456 http://purl.obolibrary.org/obo/MONDO_0008101 accessory nipples|nipples, supernumerary|polymastia|isolated polythelia|polythelia, familial ordo_morphological_anomaly MONDO:0011739 pancreatic cancer, susceptibility to, 1 biolink:Disease mondo OMIM:606856 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene. http://identifiers.org/omim/606856 http://purl.obolibrary.org/obo/MONDO_0011739 Pnca1|pancreatic cancer, susceptibility to, 1|PALLD familial pancreatic carcinoma|susceptibility to pancreatic cancer 1|pancreatic cancer, susceptibility to, type 1|familial pancreatic carcinoma caused by mutation in PALLD predisposition CL:0000835 myeloblast biolink:Cell mondo BTO:0000187|FMA:83524 The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow. http://purl.obolibrary.org/obo/CL_0000835 MONDO:0008102 sick sinus syndrome 2, autosomal dominant biolink:Disease mondo OMIM:163800|MESH:C563513|UMLS:C1834144 Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene. MESH:C563513|http://identifiers.org/omim/163800|UMLS:C1834144 http://purl.obolibrary.org/obo/MONDO_0008102 sinus node disease, familial, autosomal dominant|sick sinus syndrome caused by mutation in HCN4|atrial fibrillation with Bradyarrhythmia|sick sinus syndrome 2|HCN4 sick sinus syndrome|sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation|Sss, autosomal dominant|sick sinus syndrome 2, autosomal dominant; SSS2|SSS2|sinus bradycardia syndrome, familial, autosomal dominant|sick sinus syndrome 2, autosomal dominant|sick sinus syndrome 2; SSS2 MONDO:0011738 bilateral frontoparietal polymicrogyria biolink:Disease mondo ICD10:Q04.3|OMIM:606854|NCIT:C148367|Orphanet:101070|MESH:C564652|GARD:0010784|UMLS:C1847352 Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. http://identifiers.org/omim/606854|MESH:C564652|ORPHA:101070|UMLS:C1847352|NCIT:C148367 http://purl.obolibrary.org/obo/MONDO_0011738 cerebellar ataxia with neuronal migration defect|BFPP|polymicrogyria, bilateral frontoparietal|polymicrogyria, bilateral frontoparietal; BFPP ordo_clinical_subtype|gard_rare CL:0000837 hematopoietic multipotent progenitor cell biolink:Cell mondo CALOHA:TS-0448|BTO:0000725 A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. http://purl.obolibrary.org/obo/CL_0000837 hemopoietic progenitor cell|MPP CL:0000838 lymphoid lineage restricted progenitor cell biolink:Cell mondo BTO:0004731|FMA:70338|CALOHA:TS-2025 A progenitor cell restricted to the lymphoid lineage. http://purl.obolibrary.org/obo/CL_0000838 lymphoid progenitor cell MONDO:0008100 nipples inverted biolink:Disease mondo OMIM:163600 http://identifiers.org/omim/163600 http://purl.obolibrary.org/obo/MONDO_0008100 Mammillae Invertitae|nipples inverted MONDO:0011740 Carney-Stratakis syndrome biolink:Disease mondo SCTID:722377004|Orphanet:97286|ICD10:D44.8|UMLS:C1847319|OMIM:606864|MESH:C564650|GARD:0010643|NCIT:C94831 Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. UMLS:C1847319|SNOMEDCT:722377004|NCIT:C94831|ORPHA:97286|http://identifiers.org/omim/606864|MESH:C564650 http://purl.obolibrary.org/obo/MONDO_0011740 paraganglioma and gastric stromal sarcoma|Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma|gist-paraganglioma dyad|Carney-Stratakis dyad|paraganglioma and gist|Carney dyad|paraganglioma and gastrointestinal stromal tumor|Carney-Stratakis syndrome ordo_disease MONDO:0011742 HSCR7 biolink:Disease mondo OMIM:606875 http://identifiers.org/omim/606875 http://purl.obolibrary.org/obo/MONDO_0011742 Hirschsprung disease, susceptibility to, 7|HSCR7|Hirschsprung disease, susceptibility to, 7; HSCR7 predisposition CHEBI:17514 cyanide biolink:ChemicalSubstance mondo A pseudohalide anion that is the conjugate base of hydrogen cyanide. http://purl.obolibrary.org/obo/CHEBI_17514 CN-|CYANIDE ION|cyanide|Cyanide|Prussiate|CN(-)|Zyanid|nitridocarbonate(1-) MONDO:0011741 HSCR6 biolink:Disease mondo OMIM:606874 http://identifiers.org/omim/606874 http://purl.obolibrary.org/obo/MONDO_0011741 Hirschsprung disease, susceptibility to, 6|HSCR6|Hirschsprung disease, susceptibility to, 6; HSCR6 predisposition MONDO:0011744 primary intraosseous venous malformation biolink:Disease mondo Orphanet:140436|ICD10:D18.0|MESH:C564648|UMLS:C1847197|OMIM:606893|SCTID:764100007 Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting. UMLS:C1847197|ORPHA:140436|SNOMEDCT:764100007|http://identifiers.org/omim/606893|MESH:C564648 http://purl.obolibrary.org/obo/MONDO_0011744 osseous venous malformation|hemangioma, intraosseous|vascular malformation, primary intraosseous|intraosseous hemangioma|vascular malformation osseous ordo_disease MONDO:0011743 Alzheimer disease 4 biolink:Disease mondo NCIT:C123413|OMIM:606889|DOID:0110040|UMLS:C1847200|MESH:C536596|GARD:0009469 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene. UMLS:C1847200|NCIT:C123413|MESH:C536596|DOID:0110040|http://identifiers.org/omim/606889 http://purl.obolibrary.org/obo/MONDO_0011743 Ad4|Alzheimer's disease 4|Alzheimer disease type 4|Alzheimer disease familial type 4|AD4|Alzheimer disease, familial4|Alzheimer's disease type 4|familial Alzheimer disease, type 4|Alzheimer disease, familial, 4|Alzheimer disease 4|familial Alzheimer's disease, type 4 GO:0005737 cytoplasm biolink:OntologyClass mondo All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://purl.obolibrary.org/obo/GO_0005737 GO:0005730 nucleolus biolink:OntologyClass mondo A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. http://purl.obolibrary.org/obo/GO_0005730 CHEBI:136849 3-oxo-Delta(4)-steroid group biolink:ChemicalSubstance mondo An organic group derived from any 3-oxo-Delta(4)-steroid. http://purl.obolibrary.org/obo/CHEBI_136849 a 3-oxo-Delta4-steroid group UBERON:0007652 esophageal sphincter biolink:AnatomicalEntity mondo A sphincter that is part of an esophagus. http://purl.obolibrary.org/obo/UBERON_0007652 UBERON:0007651 anatomical junction biolink:AnatomicalEntity mondo An anatomical structure that connects two structures http://purl.obolibrary.org/obo/UBERON_0007651 junction|anatomical junction UBERON:0007650 esophagogastric junction biolink:AnatomicalEntity mondo The junction between the esophagus and the stomach epithelium http://purl.obolibrary.org/obo/UBERON_0007650 esophageal sphincter|gastroesophageal junction|GEJ|squamocolumnar junction between esophagus and stomach|esophagogastric junction|cardioesophageal junction NCBITaxon:5234 Tremellales organism taxon mondo PMID:17572334|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5234 jelly fungi GO:0005739 mitochondrion biolink:OntologyClass mondo A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://purl.obolibrary.org/obo/GO_0005739 mitochondria GO:0005747 mitochondrial respiratory chain complex I biolink:OntologyClass mondo A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. http://purl.obolibrary.org/obo/GO_0005747 GO:0005746 mitochondrial respirasome biolink:OntologyClass mondo The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. http://purl.obolibrary.org/obo/GO_0005746 mitochondrial respirasome|mitochondrial electron transport chain|mitochondrial respiratory supercomplex|mitochondrial respiratory chain supercomplex|mitochondrial respiratory chain GO:0005743 mitochondrial inner membrane biolink:OntologyClass mondo The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. http://purl.obolibrary.org/obo/GO_0005743 inner mitochondrial membrane NCBITaxon:7898 Actinopterygii organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_7898 ray-finned fishes|bony fishes|fish|Actinopterygi|Osteichthyes|fishes GO:0005740 mitochondrial envelope biolink:OntologyClass mondo The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. http://purl.obolibrary.org/obo/GO_0005740 CHEBI:136859 pro-agent biolink:ChemicalSubstance mondo A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent. http://purl.obolibrary.org/obo/CHEBI_136859 pro-agents|proagents|proagent UBERON:0007641 trigeminal nuclear complex biolink:AnatomicalEntity mondo The sensory trigeminal nerve nuclei are the largest of the cranial nerve nuclei, and extend through the whole of the midbrain, pons and medulla. There is also a distinct trigeminal motor nucleus that is medial to the chief sensory nucleus[WP]. http://purl.obolibrary.org/obo/UBERON_0007641 trigeminal nuclei|nuclei trigemini CHEBI:78433 refrigerant biolink:ChemicalSubstance mondo A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. http://purl.obolibrary.org/obo/CHEBI_78433 refrigerants UBERON:0007647 ectomeninx biolink:AnatomicalEntity mondo The outermost layer of the mesenchymal capsule that surrounds the developing brain, of mixed paraxial mesoderm and neural crest origin. The ectomeninx forms the dura mater (both inner layer and outer chondrogenic layer). http://purl.obolibrary.org/obo/UBERON_0007647 future dura mater UBERON:0007646 endomeninx biolink:AnatomicalEntity mondo The innermost layer of the mesenchymal capsule that surrounds the developing brain, primarily of neural crest origin. The endomeninx forms the leptomeninx. http://purl.obolibrary.org/obo/UBERON_0007646 future leptomeninges|future leptomeninx UBERON:0007645 future meninx biolink:AnatomicalEntity mondo A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. http://purl.obolibrary.org/obo/UBERON_0007645 primordial meninx|primary meninx|meninx primitiva|primitive meninx UBERON:0007644 thoracic lymph node biolink:AnatomicalEntity mondo A lymph node that is part of a thorax. Includes lymph nodes of the lungs and mediastinal lymph nodes http://purl.obolibrary.org/obo/UBERON_0007644 deep thoracic lymph node|lymph node of thorax NCBITaxon:5206 Cryptococcus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5206 Cryptococcus|Filobasidiella NCBITaxon:5207 Cryptococcus neoformans organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5207 Lipomyces neoformans|Filobasidiella neoformans|Debaryomyces neoformans|Blastomyces neoformans|Torulopsis neoformans|Saccharomyces neoformans|Torula neoformans NCBITaxon:5204 Basidiomycota organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5204 basidiomycetes|basidiomycetes HP:0000297 Facial hypotonia biolink:PhenotypicFeature mondo UMLS:C1845251|UMLS:C4280646 Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). http://purl.obolibrary.org/obo/HP_0000297 Hypotonic facies|Atony of facial musculature|Low facial muscle tone|Decreased facial muscle tone|Reduced facial muscle tone HP:0000290 Abnormality of the forehead biolink:PhenotypicFeature mondo UMLS:C4025867 An anomaly of the forehead. http://purl.obolibrary.org/obo/HP_0000290 Abnormality of the forehead|Abnormality of the frontal region of the face|Malformation of the forehead|Deformity of the forehead|Anomaly of the forehead hposlim_core UBERON:0007635 nucleus of medulla oblongata biolink:AnatomicalEntity mondo A neural nucleus that is part of a medulla oblongata. http://purl.obolibrary.org/obo/UBERON_0007635 GO:0005719 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0005719 UBERON:0007619 limiting membrane of retina biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0007619 retina lamina GO:0005720 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0005720 GO:0042713 sperm ejaculation biolink:OntologyClass mondo The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract. http://purl.obolibrary.org/obo/GO_0042713 UBERON:0007625 pigment epithelium of eye biolink:AnatomicalEntity mondo epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. http://purl.obolibrary.org/obo/UBERON_0007625 eye pigment epithelium MONDO:0011809 obsolete mammographic density biolink:Disease mondo OMIM:607308|MESH:C564595 http://identifiers.org/omim/607308|MESH:C564595 http://purl.obolibrary.org/obo/MONDO_0011809 mammographic density MONDO:0011808 cataract 27 biolink:Disease mondo ICD10:Q12.0|UMLS:C1846520|MESH:C564596|OMIM:607304|DOID:0110233 A cataract that has material basis in mutation in the region 2p12. UMLS:C1846520|http://identifiers.org/omim/607304|DOID:0110233|MESH:C564596 http://purl.obolibrary.org/obo/MONDO_0011808 cataract type 27|cataract 27|cataract 27; CTRCT27|CTRCT27|cataract 27 nuclear progressive|cataract 27, nuclear progressive|Ccnp MONDO:0011801 spinocerebellar ataxia type 1 with axonal neuropathy biolink:Disease mondo DOID:0090115|SCTID:765091006|Orphanet:94124|ICD10:G60.2|UMLS:C1846574|MESH:C537313|OMIM:607250|GARD:10000|GARD:0010000 Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. UMLS:C1846574|MESH:C537313|http://identifiers.org/omim/607250|DOID:0090115|SNOMEDCT:765091006|ORPHA:94124 http://purl.obolibrary.org/obo/MONDO_0011801 SCAN1|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; SCAN1|spinocerebellar ataxia with axonal neuropathy type 1|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia autosomal recessive with axonal neuropathy|autosomal recessive spinocerebellar ataxia with axonal neuropathy ordo_disease MONDO:0011800 GLM4 biolink:Disease mondo OMIM:607248|UMLS:C2750944 http://identifiers.org/omim/607248|UMLS:C2750944 http://purl.obolibrary.org/obo/MONDO_0011800 GLM4|glioma susceptibility 4; GLM4|glioma susceptibility 4 MONDO:0011803 hereditary spastic paraplegia 7 biolink:Disease mondo Orphanet:99013|OMIM:607259|DOID:0110816|GARD:0004927|ICD10:G11.4|UMLS:C1846564|UMLS:C3711370|SCTID:715776003 Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. UMLS:C1846564|ORPHA:99013|http://identifiers.org/omim/607259|UMLS:C3711370|DOID:0110816|SNOMEDCT:715776003 http://purl.obolibrary.org/obo/MONDO_0011803 spastic paraplegia 7, autosomal recessive|spastic paraplegia type 7|SPG7|spastic paraplegia 7|hereditary spastic paraplegia type 7|spastic paraplegia 7, autosomal recessive; SPG7|hereditary spastic paraplegia caused by mutation in SPG7|SPG7 hereditary spastic paraplegia|autosomal recessive spastic paraplegia 7|hereditary spastic paraplegia paraplegin type ordo_disease MONDO:0011802 hypercalciuria, absorptive, 1 biolink:Disease mondo MESH:C564600|OMIM:607258|UMLS:C1846573 UMLS:C1846573|http://identifiers.org/omim/607258|MESH:C564600 http://purl.obolibrary.org/obo/MONDO_0011802 hypercalciuria, absorptive, type 1|hypercalciuria, absorptive, 1|Hca1 MONDO:0011805 asthma-related traits, susceptibility to, 1 biolink:Disease mondo UMLS:C1846534|OMIM:607277 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene. UMLS:C1846534|http://identifiers.org/omim/607277 http://purl.obolibrary.org/obo/MONDO_0011805 asthma-related traits, susceptibility to, type 1|asthma-related traits, susceptibility to, 1|AS1|ASRT1|PTGDR inherited susceptibility to asthma|inherited susceptibility to asthma caused by mutation in PTGDR predisposition MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B biolink:Disease mondo Orphanet:275517|OMIM:607271|SCTID:722290008|DOID:0110116|ICD10:D47.9|GARD:0009796 Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. http://identifiers.org/omim/607271|SNOMEDCT:722290008|DOID:0110116|ORPHA:275517 http://purl.obolibrary.org/obo/MONDO_0011804 caspase-8 deficiency|CEDS|autoimmune lymphoproliferative syndrome with recurrent viral infections|CASP8 autoimmune lymphoproliferative syndrome|caspase eight deficiency state|autoimmune lymphoproliferative syndrome type IIB|caspase 8 deficiency|autoimmune lymphoproliferative syndrome caused by mutation in CASP8|autoimmune lymphoproliferative syndrome, type 2B|ALPS2B|Ceds|ALPS with recurrent viral infections|caspase 8 deficiency syndrome ordo_disease MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 biolink:Disease mondo OMIM:607279 http://identifiers.org/omim/607279 http://purl.obolibrary.org/obo/MONDO_0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1; SLEH1|systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1|systemic lupus erythematosus, hemolytic Anemia-related|SLEH1 predisposition MONDO:0011806 osteofibrous dysplasia biolink:Disease mondo MESH:C563787|UMLS:C1836723|OMIM:609143|NCIT:C53970|UMLS:C1709353|MESH:C563276|Orphanet:488265|OMIM:607278 A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases. UMLS:C1709353|http://identifiers.org/omim/609143|NCIT:C53970|http://identifiers.org/omim/607278|ORPHA:488265|MESH:C563276|MESH:C563787|UMLS:C1836723 http://purl.obolibrary.org/obo/MONDO_0011806 OFD|Kempson-Campanacci lesion|osteofibrous dysplasia, susceptibility to|ossifying fibroma of long bones|tibia, bowing of, with pseudarthrosis and pectus excavatum|OSFD|cortical fibrous dysplasia|osteofibrous dysplasia of bone|osteofibrous dysplasia ordo_disease UBERON:0005034 mucosa of right main bronchus biolink:AnatomicalEntity mondo A mucosa that is part of a right main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005034 right bronchus mucous membrane|mucosa of organ of right principal bronchus|right main bronchus mucous membrane|mucosa of organ of right main bronchus|mucosa of organ of right bronchus|right main bronchial mucosa|mucosa of right principal bronchus|mucous membrane of right principal bronchus|organ mucosa of right principal bronchus|mucosa of right bronchus|mucous membrane of right bronchus|organ mucosa of right bronchus|right principal bronchus mucosa of organ|right main bronchus mucosa|right main bronchus organ mucosa|right bronchus mucosa of organ|right bronchus mucosa|mucous membrane of right main bronchus|right main bronchus mucosa of organ|right bronchus organ mucosa|organ mucosa of right main bronchus|right principal bronchus mucosa|right principal bronchus mucous membrane|right principal bronchus organ mucosa UBERON:0005035 mucosa of left main bronchus biolink:AnatomicalEntity mondo A mucosa that is part of a left main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005035 left bronchus mucosa|left bronchus organ mucosa|left main bronchus mucosa of organ|left principal bronchus mucosa|left principal bronchus organ mucosa|organ mucosa of left principal bronchus|mucous membrane of left principal bronchus|left principal bronchus mucosa of organ|left main bronchus mucosa|mucosa of left principal bronchus|organ mucosa of left bronchus|mucous membrane of left bronchus|left main bronchus mucous membrane|left bronchus mucosa of organ|left main bronchus organ mucosa|mucosa of left bronchus|left main bronchial mucosa|mucosa of organ of left main bronchus|mucosa of organ of left principal bronchus|left principal bronchus mucous membrane|mucosa of organ of left bronchus|left bronchus mucous membrane|organ mucosa of left main bronchus|mucous membrane of left main bronchus UBERON:0005032 mucosa of lower lip biolink:AnatomicalEntity mondo A mucosa that is part of a lower lip [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005032 lower lip mucous membrane|mucosa of organ of lower lip|lower lip mucosa|lower lip organ mucosa|lower labial mucosa|lower lip mucosa of organ|mucous membrane of lower lip|organ mucosa of lower lip UBERON:0005033 mucosa of gallbladder biolink:AnatomicalEntity mondo A mucosa that is part of a gallbladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005033 gallbladder organ mucosa|tunica mucosa vesicae biliaris|gall bladder mucosa|gall bladder mucosa of organ|gall bladder organ mucosa|organ mucosa of gallbladder|gallbladder mucosa of organ|mucous membrane of gallbladder|gall bladder mucous membrane|tunica mucosa (vesica biliaris)|mucosa of organ of gall bladder|mucosa of organ of gallbladder|gallbladder mucous membrane|mucosa of gall bladder|organ mucosa of gall bladder|gallbladder mucosa|mucous membrane of gall bladder UBERON:0005030 mucosa of paranasal sinus biolink:AnatomicalEntity mondo A mucosa that adjacent_to a paranasal sinus. http://purl.obolibrary.org/obo/UBERON_0005030 paranasal sinus mucosa UBERON:0005031 mucosa of upper lip biolink:AnatomicalEntity mondo A mucosa that is part of a upper lip [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005031 upper lip mucous membrane|mucosa of organ of upper lip|upper lip mucosa|upper labial mucosa|upper lip organ mucosa|organ mucosa of upper lip|upper lip mucosa of organ|mucous membrane of upper lip UBERON:0007692 nucleus of thalamus biolink:AnatomicalEntity mondo A nucleus of brain that is part of a thalamus. http://purl.obolibrary.org/obo/UBERON_0007692 nuclear complex of thalamus|thalamic nucleus UBERON:0007691 gustatory pore biolink:AnatomicalEntity mondo The minute opening of a taste bud on the surface of the oral mucosa through which the gustatory hairs of the specialised neuroepithelial gustatory cells project. http://purl.obolibrary.org/obo/UBERON_0007691 porus gustatorius|taste pore MONDO:0011810 horizontal gaze palsy with progressive scoliosis biolink:Disease mondo Orphanet:2744|ICD10:H49.4|UMLS:C1846496|MESH:C564593|GARD:0012682|OMIMPS:607313|ICD9:737.43|SCTID:702381007 Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla. ORPHA:2744|http://identifiers.org/omim/607313|MESH:C564593|SNOMEDCT:702381007|UMLS:C1846496 http://purl.obolibrary.org/obo/MONDO_0011810 gaze palsy, familial horizontal, with progressive scoliosis; HGPPS|gaze palsy, familial horizontal, with progressive scoliosis|HGPPS|progressive external ophthalmoplegia and scoliosis|gaze palsy, horizontal, with progressive scoliosis|ophthalmoplegia, progressive external, and scoliosis ordo_disease|prototype_pattern|gard_rare UBERON:0007690 early pharyngeal endoderm biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0007690 pharyngeal endoderm|pharyngeal region endoderm|early pharyngeal arch endoderm|pharyngeal arch endoderm ENVO:09000019 concentration of chloride in water biolink:OntologyClass mondo The concentration of a chloride when measured in water. http://purl.obolibrary.org/obo/ENVO_09000019 water chloride concentration ENVO:09000017 concentration of nitrogen atom in soil biolink:OntologyClass mondo The concentration of a nitrogen atom when measured in soil. http://purl.obolibrary.org/obo/ENVO_09000017 soil nitrogen atom concentration ENVO:09000018 concentration of nitrogen atom in water biolink:OntologyClass mondo The concentration of a nitrogen atom when measured in water. http://purl.obolibrary.org/obo/ENVO_09000018 water nitrogen atom concentration ENVO:09000015 amount of nitrogen atom in water biolink:OntologyClass mondo The amount of a nitrogen atom when measured in water. http://purl.obolibrary.org/obo/ENVO_09000015 water nitrogen atom amount UBERON:0005038 mucosa of segmental bronchus biolink:AnatomicalEntity mondo A mucosa that is part of a segmental bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005038 mucous membrane of tertiary bronchus|tertiary bronchus mucosa of organ|organ mucosa of tertiary bronchus|segmental bronchus mucous membrane|mucosa of tertiary bronchus|segmental bronchial mucosa|mucosa of organ of segmental bronchus|tertiary bronchus mucosa|tertiary bronchus mucous membrane|tertiary bronchus organ mucosa|mucosa of organ of tertiary bronchus|segmental bronchus mucosa|mucous membrane of segmental bronchus|organ mucosa of segmental bronchus|segmental bronchus organ mucosa|segmental bronchus mucosa of organ UBERON:0005039 mucosa of bronchiole biolink:AnatomicalEntity mondo A mucosa that is part of a bronchiole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005039 bronchiole mucosa of organ|mucosa of lobular bronchiole|lobular bronchiole mucosa|mucous membrane of lobular bronchiole|organ mucosa of lobular bronchiole|lobular bronchiole organ mucosa|bronchiole mucous membrane|lobular bronchiole mucosa of organ|mucosa of organ of bronchiole|bronchiole mucosa|bronchiole organ mucosa|mucous membrane of bronchiole|lobular bronchiole mucous membrane|organ mucosa of bronchiole|mucosa of organ of lobular bronchiole ENVO:09000016 concentration of nitrogen atom in environmental material biolink:OntologyClass mondo The concentration of a nitrogen atom when measured in environmental material. http://purl.obolibrary.org/obo/ENVO_09000016 environmental material nitrogen atom concentration UBERON:0005036 mucosa of main bronchus biolink:AnatomicalEntity mondo A mucosa that is part of a main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005036 mucosa of organ of bronchus principalis|main bronchus mucosa|main bronchial mucosa|bronchus principalis mucosa|main bronchus organ mucosa|bronchus principalis organ mucosa|primary bronchus mucosa of organ|mucosa of bronchus principalis|principal bronchus mucous membrane|organ mucosa of bronchus principalis|mucous membrane of bronchus principalis|mucosa of organ of principal bronchus|primary bronchus mucosa|primary bronchus mucous membrane|primary bronchus organ mucosa|bronchus principalis mucosa of organ|main bronchus mucosa of organ|organ mucosa of main bronchus|mucosa of organ of primary bronchus|mucosa of principal bronchus|mucous membrane of main bronchus|organ mucosa of principal bronchus|mucous membrane of principal bronchus|principal bronchus mucosa|principal bronchus organ mucosa|mucosa of primary bronchus|bronchus principalis mucous membrane|main bronchus mucous membrane|organ mucosa of primary bronchus|mucosa of organ of main bronchus|principal bronchus mucosa of organ|mucous membrane of primary bronchus UBERON:0007699 tract of spinal cord biolink:AnatomicalEntity mondo An axon tract that is part of a spinal cord. http://purl.obolibrary.org/obo/UBERON_0007699 spinal cord tract ENVO:09000013 amount of nitrogen atom in environmental material biolink:OntologyClass mondo The amount of a nitrogen atom when measured in environmental material. http://purl.obolibrary.org/obo/ENVO_09000013 environmental material nitrogen atom amount ENVO:09000014 amount of nitrogen atom in soil biolink:OntologyClass mondo The amount of a nitrogen atom when measured in soil. http://purl.obolibrary.org/obo/ENVO_09000014 soil nitrogen atom amount UBERON:0005037 mucosa of lobar bronchus biolink:AnatomicalEntity mondo A mucosa that is part of a lobar bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005037 mucosa of secondary bronchus|lobar bronchus mucosa of organ|organ mucosa of secondary bronchus|mucous membrane of secondary bronchus|secondary bronchus mucosa|secondary bronchus mucosa of organ|lobar bronchus mucous membrane|secondary bronchus organ mucosa|lobar bronchial mucosa|mucosa of organ of lobar bronchus|lobar bronchus mucosa|lobar bronchus organ mucosa|secondary bronchus mucous membrane|mucosa of organ of secondary bronchus|organ mucosa of lobar bronchus|mucous membrane of lobar bronchus UBERON:0005023 mucosa of oropharynx biolink:AnatomicalEntity mondo A mucosa that is part of a oropharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005023 organ mucosa of oropharynx|mucous membrane of oropharynx|mucosa of oral part of pharynx|oral part of pharynx mucosa|mucous membrane of oral part of pharynx|organ mucosa of oral part of pharynx|oral part of pharynx organ mucosa|oropharynx mucosa of organ|oropharynx mucosa|oropharynx organ mucosa|oral part of pharynx mucosa of organ|oropharynx mucous membrane|mucosa of organ of oropharynx|oral part of pharynx mucous membrane|mucosa of organ of oral part of pharynx UBERON:0007685 region of nephron tubule biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0007685 region of renal tubule|renal tubule region UBERON:0005024 mucosa of soft palate biolink:AnatomicalEntity mondo A mucosa that is part of a soft palate [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005024 soft palate mucosa|soft palate organ mucosa|soft palate mucosa of organ|mucous membrane of soft palate|organ mucosa of soft palate|mucosa of organ of soft palate|soft palate mucous membrane UBERON:0005021 mucosa of sphenoidal sinus biolink:AnatomicalEntity mondo A mucosa that is part of a sphenoidal sinus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005021 sphenoidal sinus mucous membrane|mucosa of sphenoid sinus|mucous membrane of sphenoid sinus|organ mucosa of sphenoid sinus|mucosa of organ of sphenoidal sinus|sphenoid sinus mucosa|sphenoid sinus organ mucosa|sphenoid sinus mucosa of organ|organ mucosa of sphenoidal sinus|mucous membrane of sphenoidal sinus|sphenoidal sinus mucosa of organ|sphenoid sinus mucous membrane|sphenoidal sinus mucosa|mucosa of organ of sphenoid sinus|sphenoidal sinus organ mucosa UBERON:0007684 uriniferous tubule biolink:AnatomicalEntity mondo functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. http://purl.obolibrary.org/obo/UBERON_0007684 UBERON:0005022 mucosa of nasopharynx biolink:AnatomicalEntity mondo A mucosa that is part of a nasopharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005022 nasal part of pharynx mucosa|nasal part of pharynx organ mucosa|nasopharynx mucosa|rhinopharynx mucous membrane|nasopharynx organ mucosa|mucosa of organ of rhinopharynx|nasopharynx mucosa of organ|organ mucosa of nasopharynx|mucous membrane of nasopharynx|mucosa of rhinopharynx|organ mucosa of rhinopharynx|mucous membrane of rhinopharynx|nasal part of pharynx mucosa of organ|organ mucosa of nasal part of pharynx|mucous membrane of nasal part of pharynx|mucosa of nasal part of pharynx|mucosa of organ of nasopharynx|rhinopharynx mucosa|nasopharynx mucous membrane|rhinopharynx mucosa of organ|rhinopharynx organ mucosa|mucosa of organ of nasal part of pharynx|nasal part of pharynx mucous membrane GO:0042737 drug catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of a drug, a substance used in the diagnosis, treatment or prevention of a disease. http://purl.obolibrary.org/obo/GO_0042737 drug degradation|drug breakdown|drug catabolism UBERON:0005020 mucosa of tongue biolink:AnatomicalEntity mondo A mucosa that is part of a tongue [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005020 lingual mucosa|tongue mucous membrane|mucosa of organ of tongue|mucous membrane of tongue|tongue mucosa|organ mucosa of tongue|tongue organ mucosa|tunica mucosa linguae|tongue mucosa of organ ENVO:09000008 concentration of carbon atom in soil biolink:OntologyClass mondo The concentration of a carbon atom when measured in soil. http://purl.obolibrary.org/obo/ENVO_09000008 soil carbon atom concentration ENVO:09000009 concentration of carbon atom in water biolink:OntologyClass mondo The concentration of a carbon atom when measured in water. http://purl.obolibrary.org/obo/ENVO_09000009 water carbon atom concentration UBERON:0005029 mucosa of lacrimal canaliculus biolink:AnatomicalEntity mondo A mucosa that is part of a lacrimal canaliculus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005029 mucosa of organ of lacrimal canaliculus|organ mucosa of lacrimal canaliculus|mucous membrane of lacrimal canaliculus|lacrimal canaliculus mucosa|lacrimal canaliculus organ mucosa|lacrimal canaliculus mucosa of organ|lacrimal canalicular mucosa|lacrimal canaliculus mucous membrane ENVO:09000006 amount of carbon atom in water biolink:OntologyClass mondo The amount of a carbon atom when measured in water. http://purl.obolibrary.org/obo/ENVO_09000006 water carbon atom amount ENVO:09000007 concentration of carbon atom in environmental material biolink:OntologyClass mondo The concentration of a carbon atom when measured in environmental material. http://purl.obolibrary.org/obo/ENVO_09000007 environmental material carbon atom concentration HGNC:3214 EEF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3214 UBERON:0005027 mucosa of frontal sinus biolink:AnatomicalEntity mondo A mucosa that is part of a frontal sinus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005027 mucosa of organ of frontal sinus|frontal sinus mucous membrane|frontal sinus mucosa|frontal sinus organ mucosa|mucous membrane of frontal sinus|organ mucosa of frontal sinus|frontal sinus mucosa of organ ENVO:09000004 amount of carbon atom in environmental material biolink:OntologyClass mondo The amount of a carbon atom when measured in environmental material. http://purl.obolibrary.org/obo/ENVO_09000004 environmental material carbon atom amount UBERON:0005028 mucosa of maxillary sinus biolink:AnatomicalEntity mondo A mucosa that is part of a maxillary sinus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005028 maxillary sinus mucous membrane|mucosa of organ of maxillary sinus|antrum of highmore mucosa of organ|maxillary sinus mucosa|maxillary sinus organ mucosa|antrum of highmore mucous membrane|mucosa of organ of antrum of highmore|mucous membrane of maxillary sinus|organ mucosa of maxillary sinus|maxillary sinus mucosa of organ|antrum of highmore mucosa|mucosa of antrum of highmore|antrum of highmore organ mucosa|mucous membrane of antrum of highmore|organ mucosa of antrum of highmore UBERON:0007689 thyroid diverticulum biolink:AnatomicalEntity mondo endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. http://purl.obolibrary.org/obo/UBERON_0007689 saccus thyroideus|diverticulum thyroideum ENVO:09000005 amount of carbon atom in soil biolink:OntologyClass mondo The amount of a carbon atom when measured in soil. http://purl.obolibrary.org/obo/ENVO_09000005 soil carbon atom amount UBERON:0005025 mucosa of uvula biolink:AnatomicalEntity mondo A mucosa that is part of a uvula [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005025 uvula mucosa UBERON:0007688 anlage biolink:AnatomicalEntity mondo Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. http://purl.obolibrary.org/obo/UBERON_0007688 organ field|developmental field|future organ|field HGNC:5870 IGLL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5870 UBERON:0005026 mucosa of middle ear biolink:AnatomicalEntity mondo A mucosa that is part of a middle ear [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005026 mucosa of organ of middle ear|middle ear mucosa|middle ear organ mucosa|organ mucosa of middle ear|mucous membrane of middle ear|middle ear mucosa of organ|mucosa of tympanic cavity|middle ear mucous membrane|tunica mucosa cavitatis tympanicae UBERON:0007687 kidney field biolink:AnatomicalEntity mondo region of the embryo into the area in which the kidney rudiment will develop. http://purl.obolibrary.org/obo/UBERON_0007687 kidney anlage HGNC:3219 EFEMP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3219 HGNC:3218 EFEMP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3218 HGNC:22197 AP5Z1 biolink:OntologyClass mondo http://identifiers.org/hgnc/22197 GO:0042747 circadian sleep/wake cycle, REM sleep biolink:OntologyClass mondo A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity. http://purl.obolibrary.org/obo/GO_0042747 UBERON:0005012 mucosa of left uterine tube biolink:AnatomicalEntity mondo A mucosa that is part of a left uterine tube [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005012 left uterine tube mucous membrane|mucosa of organ of left oviduct|mucosa of organ of left uterine tube|mucous membrane of left fallopian tube|left uterine tube mucosa|left fallopian tube mucosa of organ|organ mucosa of left fallopian tube|left uterine tube organ mucosa|mucosa of left fallopian tube|left oviduct mucosa|mucosa of left oviduct|left oviduct organ mucosa|mucous membrane of left oviduct|organ mucosa of left oviduct|mucosa of organ of left fallopian tube|left fallopian tube mucous membrane|left oviduct mucosa of organ|left fallopian tube mucosa|left uterine tube mucosa of organ|organ mucosa of left uterine tube|mucous membrane of left uterine tube|left fallopian tube organ mucosa|left oviduct mucous membrane UBERON:0005013 mucosa of male urethra biolink:AnatomicalEntity mondo A mucosa that is part of a male urethra [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005013 male urethra mucosa|male urethra organ mucosa|male urethra mucous membrane|mucosa of organ of male urethra|mucous membrane of male urethra|organ mucosa of male urethra|male urethra mucosa of organ UBERON:0005010 mucosa of neck of urinary bladder biolink:AnatomicalEntity mondo A mucosa that is part of a neck of urinary bladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005010 mucosa of organ of bladder neck|mucous membrane of neck of urinary bladder|organ mucosa of neck of urinary bladder|neck of urinary bladder mucosa of organ|vesical neck mucous membrane|bladder neck mucosa|urinary bladder neck mucous membrane|neck of bladder mucosa|mucosa of bladder neck|bladder neck organ mucosa|mucosa of organ of vesical neck|organ mucosa of bladder neck|neck of bladder organ mucosa|mucous membrane of bladder neck|mucosa of organ of urinary bladder neck|mucosa of organ of neck of urinary bladder|neck of urinary bladder mucous membrane|neck of bladder mucosa of organ|organ mucosa of neck of bladder|mucous membrane of neck of bladder|mucosa of neck of bladder|bladder neck mucosa of organ|mucosa of vesical neck|neck of urinary bladder mucosa|organ mucosa of vesical neck|mucosa of urinary bladder neck|mucous membrane of vesical neck|neck of urinary bladder organ mucosa|mucous membrane of urinary bladder neck|organ mucosa of urinary bladder neck|neck of bladder mucous membrane|urinary bladder neck mucosa|mucosa of organ of neck of bladder|bladder neck mucous membrane|vesical neck mucosa of organ|vesical neck mucosa|urinary bladder neck mucosa of organ|vesical neck organ mucosa GO:0042749 regulation of circadian sleep/wake cycle biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle. http://purl.obolibrary.org/obo/GO_0042749 UBERON:0005011 mucosa of right uterine tube biolink:AnatomicalEntity mondo A mucosa that is part of a right uterine tube [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005011 right uterine tube mucosa of organ|mucosa of right fallopian tube|organ mucosa of right fallopian tube|mucous membrane of right fallopian tube|organ mucosa of right oviduct|right oviduct mucosa of organ|mucous membrane of right oviduct|right uterine tube mucous membrane|mucosa of right oviduct|right fallopian tube mucosa|right fallopian tube mucosa of organ|right fallopian tube organ mucosa|mucosa of organ of right uterine tube|right oviduct mucosa|right oviduct organ mucosa|mucosa of organ of right oviduct|right oviduct mucous membrane|right fallopian tube mucous membrane|organ mucosa of right uterine tube|right uterine tube mucosa|mucous membrane of right uterine tube|mucosa of organ of right fallopian tube|right uterine tube organ mucosa GO:0042742 defense response to bacterium biolink:OntologyClass mondo Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. http://purl.obolibrary.org/obo/GO_0042742 defence response to bacterium|defense response to bacteria|defence response to bacteria|antibacterial peptide activity GO:0042745 circadian sleep/wake cycle biolink:OntologyClass mondo The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. http://purl.obolibrary.org/obo/GO_0042745 HGNC:3226 EFNB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3226 UBERON:0005019 mucosa of palate biolink:AnatomicalEntity mondo A mucosa that is part of a palate [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005019 palate mucosa of organ|oral roof mucosa of organ|mucous membrane of oral roof|oral roof mucosa|organ mucosa of oral roof|palate mucosa|mucosa of organ of roof of mouth|roof of mouth mucous membrane|oral roof organ mucosa|mucosa of oral roof|palate organ mucosa|roof of mouth mucosa|palate mucous membrane|oral roof mucous membrane|mucosa of organ of oral roof|roof of mouth organ mucosa|mucosa of organ of palate|organ mucosa of palate|mucous membrane of palate|organ mucosa of roof of mouth|roof of mouth mucosa of organ|mucous membrane of roof of mouth|mucosa of roof of mouth UBERON:0005017 mucosa of lacrimal sac biolink:AnatomicalEntity mondo A mucosa that is part of a lacrimal sac [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005017 lacrimal sac mucosa|lacrimal sac mucous membrane|lacrimal sac organ mucosa|mucosa of organ of lacrimal sac|organ mucosa of lacrimal sac|mucous membrane of lacrimal sac|lacrimal sac mucosa of organ UBERON:0005014 mucosa of female urethra biolink:AnatomicalEntity mondo A mucosa that is part of a female urethra [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005014 female urethra mucosa|female urethra organ mucosa|female urethra mucous membrane|mucosa of organ of female urethra|mucous membrane of female urethra|organ mucosa of female urethra|female urethra mucosa of organ UBERON:0005015 mucosa of prostatic urethra biolink:AnatomicalEntity mondo A mucosa that is part of a prostatic urethra [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005015 mucous membrane of prostatic urethra|prostatic urethral mucosa|prostatic urethra mucosa of organ|organ mucosa of prostatic urethra|prostatic urethra mucosa|mucosa of organ of prostatic part of urethra|prostatic part of urethra mucous membrane|prostatic urethra organ mucosa|prostatic part of urethra mucosa|prostatic part of urethra organ mucosa|mucosa of organ of prostatic urethra|prostatic urethra mucous membrane|organ mucosa of prostatic part of urethra|mucous membrane of prostatic part of urethra|prostatic part of urethra mucosa of organ|mucosa of prostatic part of urethra|tunica mucosa urethrae prosticae CHEBI:30436 tetrahydropterin biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_30436 tetrahydropterins|tetrahydropteridines ENVO:00000097 desert area biolink:OntologyClass mondo A region rendered barren or partially barren by environmental extremes, especially by low rainfall. http://purl.obolibrary.org/obo/ENVO_00000097 arid region OBO:mondo#disease_has_basis_in_accumulation_of disease has basis in accumulation of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of HGNC:3229 EGF biolink:OntologyClass mondo http://identifiers.org/hgnc/3229 GO:0042752 regulation of circadian rhythm biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. http://purl.obolibrary.org/obo/GO_0042752 UBERON:0005001 mucosa of common hepatic duct biolink:AnatomicalEntity mondo A mucosa that is part of a common hepatic duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005001 organ mucosa of hepatic duct|mucous membrane of hepatic duct|common hepatic duct mucosa|common hepatic duct organ mucosa|hepatic duct mucosa of organ|mucosa of organ of common hepatic duct|common hepatic duct mucous membrane|hepatic duct mucous membrane|mucosa of organ of hepatic duct|common hepatic ductal mucosa|hepatic duct mucosa|hepatic duct organ mucosa|organ mucosa of common hepatic duct|mucous membrane of common hepatic duct|mucosa of hepatic duct|common hepatic duct mucosa of organ UBERON:0005002 mucosa of right hepatic duct biolink:AnatomicalEntity mondo A mucosa that is part of a right hepatic duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005002 right hepatic duct mucosa|right hepatic duct mucosa of organ|right hepatic duct organ mucosa|right hepatic duct mucous membrane|mucosa of organ of right hepatic duct|right hepatic ductal mucosa|mucous membrane of right hepatic duct|organ mucosa of right hepatic duct UBERON:0005000 mucosa of common bile duct biolink:AnatomicalEntity mondo A mucosa that is part of a common bile duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005000 mucosa of organ of common bile duct|common bile ductal mucosa|mucous membrane of ductus choledochus (biliaris)|organ mucosa of ductus choledochus (biliaris)|organ mucosa of common bile duct|ductus choledochus (biliaris) mucosa of organ|mucous membrane of common bile duct|mucosa of ductus choledochus (biliaris)|common bile duct mucosa|common bile duct organ mucosa|common bile duct mucosa of organ|ductus choledochus (biliaris) mucous membrane|mucosa of organ of ductus choledochus (biliaris)|ductus choledochus (biliaris) mucosa|ductus choledochus (biliaris) organ mucosa|common bile duct mucous membrane GO:0042754 negative regulation of circadian rhythm biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. http://purl.obolibrary.org/obo/GO_0042754 downregulation of circadian rhythm|down regulation of circadian rhythm|inhibition of circadian rhythm|down-regulation of circadian rhythm GO:0042753 positive regulation of circadian rhythm biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior. http://purl.obolibrary.org/obo/GO_0042753 up-regulation of circadian rhythm|activation of circadian rhythm|upregulation of circadian rhythm|up regulation of circadian rhythm|stimulation of circadian rhythm GO:0042755 eating behavior biolink:OntologyClass mondo The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. http://purl.obolibrary.org/obo/GO_0042755 eating behaviour UBERON:0005009 mucosa of trigone of urinary bladder biolink:AnatomicalEntity mondo A mucosa that is part of a trigone of urinary bladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005009 trigone of bladder organ mucosa|mucous membrane of deep trigone|mucosa of organ of trigone of bladder|organ mucosa of deep trigone|vesical trigone mucosa|vesical trigone organ mucosa|Lieutaud ' s trigone mucous membrane|urinary bladder trigone mucosa|trigone of urinary bladder mucosa of organ|urinary bladder trigone organ mucosa|deep trigone mucosa of organ|mucosa of organ of Lieutaud ' s trigone|mucosa of trigone of bladder|deep trigone mucosa|deep trigone organ mucosa|trigone of urinary bladder mucosa|mucous membrane of trigone of bladder|organ mucosa of trigone of bladder|mucous membrane of urinary bladder trigone|trigone of urinary bladder organ mucosa|organ mucosa of urinary bladder trigone|urinary bladder trigone mucosa of organ|mucous membrane of vesical trigone|vesical trigone mucosa of organ|mucosa of urinary bladder trigone|organ mucosa of vesical trigone|trigone of urinary bladder mucous membrane|mucosa of vesical trigone|mucosa of Lieutaud ' s trigone|organ mucosa of Lieutaud ' s trigone|deep trigone mucous membrane|trigone of bladder mucosa of organ|mucous membrane of Lieutaud ' s trigone|mucosa of organ of trigone of urinary bladder|mucosa of organ of deep trigone|mucosa of organ of urinary bladder trigone|Lieutaud ' s trigone mucosa|urinary bladder trigone mucous membrane|mucosa of organ of vesical trigone|Lieutaud ' s trigone organ mucosa|vesical trigone mucous membrane|Lieutaud ' s trigone mucosa of organ|trigone of bladder mucous membrane|trigone of bladder mucosa|mucosa of deep trigone|organ mucosa of trigone of urinary bladder|mucous membrane of trigone of urinary bladder HGNC:3239 EGR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3239 CHEBI:17478 aldehyde biolink:ChemicalSubstance mondo A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group. http://purl.obolibrary.org/obo/CHEBI_17478 Aldehyde|aldehyde|an aldehyde|aldehydum|aldehidos|aldehydes|aldehido|RC(=O)H|RCHO|Aldehyd|aldehydes HGNC:3236 EGFR biolink:OntologyClass mondo http://identifiers.org/hgnc/3236 UBERON:0005005 mucosa of left ureter biolink:AnatomicalEntity mondo A mucosa that is part of a left ureter [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005005 mucous membrane of left ureter|left ureter mucosa of organ|organ mucosa of left ureter|left ureteral mucosa|mucosa of organ of left ureter|left ureter mucous membrane|left ureter mucosa|left ureter organ mucosa UBERON:0005006 mucosa of renal pelvis biolink:AnatomicalEntity mondo A mucosa that is part of a renal pelvis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005006 mucosa of organ of kidney pelvis|renal pelvis organ mucosa|kidney pelvis mucous membrane|organ mucosa of renal pelvis|mucous membrane of renal pelvis|pelvis of ureter mucous membrane|mucosa of organ of pelvis of ureter|renal pelvis mucosa of organ|pelvis of ureter mucosa|mucosa of pelvis of ureter|pelvis of ureter organ mucosa|kidney pelvis mucosa|organ mucosa of pelvis of ureter|mucous membrane of pelvis of ureter|kidney pelvis organ mucosa|renal pelvis mucous membrane|mucous membrane of kidney pelvis|organ mucosa of kidney pelvis|kidney pelvis mucosa of organ|mucosa of kidney pelvis|mucosa of organ of renal pelvis|pelvis of ureter mucosa of organ|tunica mucosa pelvis renalis|renal pelvic mucosa|renal pelvis mucosa UBERON:0005003 mucosa of left hepatic duct biolink:AnatomicalEntity mondo A mucosa that is part of a left hepatic duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005003 left hepatic duct mucous membrane|left hepatic ductal mucosa|mucosa of organ of left hepatic duct|left hepatic duct mucosa|left hepatic duct organ mucosa|left hepatic duct mucosa of organ|mucous membrane of left hepatic duct|organ mucosa of left hepatic duct HGNC:3233 MEGF8 biolink:OntologyClass mondo http://identifiers.org/hgnc/3233 UBERON:0005004 mucosa of right ureter biolink:AnatomicalEntity mondo A mucosa that is part of a right ureter [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005004 mucosa of organ of right ureter|right ureteral mucosa|organ mucosa of right ureter|mucous membrane of right ureter|right ureter mucosa|right ureter organ mucosa|right ureter mucosa of organ|right ureter mucous membrane PO:0000003 whole plant biolink:OntologyClass mondo A plant structure (PO:0005679) which is a whole organism. http://purl.obolibrary.org/obo/PO_0000003 prothalli (narrow)|shrub (narrow)|ramet (broad)|vine (narrow)|woody clump (narrow)|herb (narrow)|prothallus (narrow)|tree (narrow)|frutex (narrow)|colony (related)|prothallium (narrow)|植物体全体 (Japanese, exact)|suffrutex (narrow)|clonal colony (related)|frutices (narrow)|sporophyte (narrow)|planta entera (Spanish, exact)|gametophyte (narrow)|suffrutices (narrow)|seedling (narrow)|liana (narrow)|genet (broad)|bush (narrow) ENVO:00000063 water body biolink:OntologyClass mondo An accumulation of water of varying size. http://purl.obolibrary.org/obo/ENVO_00000063 bodies of water|body of water|waterbody|aquatic feature|hydrographic feature HP:0000238 Hydrocephalus biolink:PhenotypicFeature mondo UMLS:C0020255|SNOMEDCT_US:230745008|MSH:D006849 Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. http://purl.obolibrary.org/obo/HP_0000238 Too much cerebrospinal fluid in the brain|Nonsyndromal hydrocephalus|Hydrocephaly FOODON:00001871 food product analog biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001871 HP:0000230 Gingivitis biolink:PhenotypicFeature mondo MSH:D005891|UMLS:C0017574|SNOMEDCT_US:66383009 Inflammation of the gingiva. http://purl.obolibrary.org/obo/HP_0000230 Inflamed gums|Gingival inflammation|Red and swollen gums hposlim_core HP:0000233 Thin vermilion border biolink:PhenotypicFeature mondo UMLS:C0578038|SNOMEDCT_US:301348000 Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). http://purl.obolibrary.org/obo/HP_0000233 Thin vermillion|Decreased volume of lip|Thin lips|Decreased volume of lip vermillion|Thin vermilion borders HP:0000234 Abnormality of the head biolink:PhenotypicFeature mondo UMLS:C4021812 An abnormality of the head. http://purl.obolibrary.org/obo/HP_0000234 Head abnormality|Abnormal head|Abnormality of the head GO:0015136 sialic acid transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of sialic acid from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0015136 HP:0012210 Abnormal renal morphology biolink:PhenotypicFeature mondo Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292 Any structural anomaly of the kidney. http://purl.obolibrary.org/obo/HP_0012210 Abnormal kidney morphology|Kidney structure issue|Structural kidney abnormalities|Abnormally shaped kidney|Kidney malformation|Structural renal anomalies|Structural anomalies of the renal tract|Renal malformation HP:0012211 Abnormal renal physiology biolink:PhenotypicFeature mondo SNOMEDCT_US:39539005|UMLS:C0151746 An abnormal functionality of the kidney. http://purl.obolibrary.org/obo/HP_0012211 Abnormal kidney function|Kidney function issue|Abnormal renal function|Abnormality of renal physiology|Renal functional abnormality ENVO:00000073 building biolink:OntologyClass mondo A permanent walled and roofed construction. http://purl.obolibrary.org/obo/ENVO_00000073 building|BUILDING ENVO:00000070 human construction biolink:OntologyClass mondo A construction that has been assembled by deliberate human effort. http://purl.obolibrary.org/obo/ENVO_00000070 constructed feature HP:0000243 Trigonocephaly biolink:PhenotypicFeature mondo MSH:D003398|UMLS:C4280666|UMLS:C4280665|SNOMEDCT_US:28740008|UMLS:C0265535 Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. http://purl.obolibrary.org/obo/HP_0000243 Wedge shaped cranium|Triangular skull shape|Triangular head shape|Triangular cranium shape|Wedge shaped skull|Wedge shaped head hposlim_core GO:0015149 hexose transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of a hexose sugar, a monosaccharide with 6 carbon atoms, from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0015149 GO:0015144 carbohydrate transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of carbohydrate from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transporter activity|sugar transporter HP:0012219 Erythema nodosum biolink:PhenotypicFeature mondo UMLS:C0014743|MSH:D004893|SNOMEDCT_US:32861005 An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. http://purl.obolibrary.org/obo/HP_0012219 GO:0015145 monosaccharide transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of a monosaccharide from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0015145 HP:0000240 Abnormality of skull size biolink:PhenotypicFeature mondo UMLS:C4025874 Any abnormality of the size of the skull. http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size|Abnormality of cranium size|Abnormality of head size MONDO:0021196 disease by molecular activity disrupted biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021196 metaclass MONDO:0021195 disease by cellular process disrupted biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021195 metaclass MONDO:0021194 disease by subcellular system affected biolink:Disease mondo A grouping of diseases based on molecular activity, cellular process or subcellular component. http://purl.obolibrary.org/obo/MONDO_0021194 metaclass MONDO:0021193 neuroepithelial neoplasm biolink:Disease mondo MESH:D018302|NCIT:C3787|ONCOTREE:PRNET A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors. MESH:D018302|NCIT:C3787 http://purl.obolibrary.org/obo/MONDO_0021193 tumor of the neuroepithelium|tumor of neuroepithelium|neuroepithelial tissue neoplasm|tumor of neuroepithelial tissue|neuroepithelial tumor|primary neuroepithelial tumor|neoplasm of the neuroepithelium|neoplasm of neuroepithelium|neuroepithelial neoplasms|neuroepithelial neoplasm|neoplasm of neuroepithelial tissue|neuroepithelial tumors|neuroepithelial tissue tumor MONDO:0021192 odontogenic neoplasm biolink:Disease mondo NCIT:C3286|MESH:D009808|UMLS:C0028880|ICDO:9270/1 A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain. MESH:D009808|NCIT:C3286|UMLS:C0028880 http://purl.obolibrary.org/obo/MONDO_0021192 calcareous tooth neoplasm|tumor of calcareous tooth|calcareous tooth neoplasm (disease)|odontogenic neoplasm|neoplasm of calcareous tooth|calcareous tooth tumor|odontogenic tumor MONDO:0021191 malignant ependymoma biolink:Disease mondo UMLS_CUI:C1333407|DOID:5074 A malignant form of ependymoma. DOID:5074 http://purl.obolibrary.org/obo/MONDO_0021191 ependymal tumors|ependymoma, malignant|ependymal neoplasm MONDO:0021190 DNA repair disease biolink:Disease mondo EFO:0008499|MESH:D049914|NCIT:C7757 A disease that has its basis in the disruption of DNA repair. NCIT:C7757|MESH:D049914 http://purl.obolibrary.org/obo/MONDO_0021190 DNA repair deficiency|syndromes, chromosome instability|syndrome, chromosome instability|DNA repair-deficiency|DNA Repairs, deficient|DNA repair-deficiency disorder|disorder of DNA repair|deficient DNA Repairs|chromosome instability syndromes|Repairs, deficient DNA|DNA repair-deficiencies|disorder, DNA repair-deficiency|DNA repair disorder|disorder of DNA repair|disorders, DNA repair-deficiency|deficiency of DNA repair|repair, deficient DNA|DNA repair, deficient|DNA repair deficiency disorders|deficient DNA repair|chromosome instability syndrome HP:0012205 Globozoospermia biolink:PhenotypicFeature mondo UMLS:C0403825|MSH:D000072660|SNOMEDCT_US:236818008 Any structural anomaly of the acrosome resulting in a round sperm head. http://purl.obolibrary.org/obo/HP_0012205 GO:0005794 Golgi apparatus biolink:OntologyClass mondo A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. http://purl.obolibrary.org/obo/GO_0005794 Golgi complex|Golgi ribbon|Golgi HP:0000219 Thin upper lip vermilion biolink:PhenotypicFeature mondo UMLS:C1865017 Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). http://purl.obolibrary.org/obo/HP_0000219 Thin vermilion border of upper lip|Decreased volume of upper lip|Thin red part of the upper lip|Thin upper lips|Thin upper lip|Decreased height of upper lip vermilion|Decreased volume of upper lip vermilion hposlim_core MONDO:0021199 disease by anatomical system biolink:Disease mondo DOID:7|SCTID:362965005|ICD9:796.4|UMLS:C1285159 A disease that disrupts the functioning of an organ system. DOID:7|SNOMEDCT:362965005|UMLS:C1285159 http://purl.obolibrary.org/obo/MONDO_0021199 disease of anatomical system|disease of anatomical entity|disorder of anatomical system|anatomical system disease metaclass MONDO:0021198 obsolete rare genetic disease biolink:Disease mondo Orphanet:98053|UMLS:CN206953 ORPHA:98053|UMLS:CN206953 http://purl.obolibrary.org/obo/MONDO_0021198 obsoletion_candidate MONDO:0021197 disease by cellular component affected biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021197 metaclass HP:0002870 Obstructive sleep apnea biolink:PhenotypicFeature mondo UMLS:C0520679|MSH:D020181|SNOMEDCT_US:78275009 A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. http://purl.obolibrary.org/obo/HP_0002870 Obstructive sleep apnoea MONDO:0021184 deltaretrovirus infections biolink:Disease mondo MESH:D006800 Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED). MESH:D006800 http://purl.obolibrary.org/obo/MONDO_0021184 infection, Deltaretrovirus|BLV infection|HTLV BLV infections|HTLV-BLV infections|Deltaretrovirus infection|HTLV infections|HTLV infection|HTLV-BLV infection|BLV infections|infections, Deltaretrovirus MONDO:0021183 HTLV-2 infection biolink:Disease mondo GARD:0009783|MESH:D015491|SCTID:425740005|UMLS:C0020102|EFO:1001349 MESH:D015491|SNOMEDCT:425740005|UMLS:C0020102 http://purl.obolibrary.org/obo/MONDO_0021183 Infections, HTLV-II|HTLV II INFECT|HTLV-II Infections|Infection, HTLV-II|Human T-lymphotropic virus 2 infection|HTLV-2 infection|Human T-lymphotropic Virus 2 Infections|Human T lymphotropic Virus 2 Infections|HTLV-II Infection|HTLV-II infection|Human T lymphotropic Virus 2 Infection|INFECT HTLV II|Infections, HTLV II|Human T-lymphotropic Virus 2 Infection MONDO:0021181 inherited blood coagulation disorder biolink:Disease mondo UMLS:C0852077|DOID:2214|UMLS:CN226819|MESH:D025861|Orphanet:183654 Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. ORPHA:183654|UMLS:CN226819|MESH:D025861|DOID:2214|UMLS:C0852077 http://purl.obolibrary.org/obo/MONDO_0021181 inherited coagulation disorders|hereditary coagulation disorders|coagulation disorders, inherited|rare genetic coagulation disorder|inherited blood coagulation disease|inherited blood coagulation disorders|hereditary blood coagulation disorders|coagulation disorder, inherited|coagulation disorder, hereditary|hereditary blood coagulation disease|coagulation disorders, hereditary|hereditary coagulation disorder|inherited coagulation disorder ordo_group_of_disorders MONDO:0021180 acquired xanthinuria biolink:Disease mondo Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy. http://purl.obolibrary.org/obo/MONDO_0021180 acquired xanthinuria MONDO:0021189 intestinal motility disease biolink:Disease mondo A disease that has its basis in the disruption of intestinal motility. http://purl.obolibrary.org/obo/MONDO_0021189 disorder of intestinal motility|disorder of intestinal motility MONDO:0021188 obsolete hemangiopericytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021188 MONDO:0021187 hyperlipidemia (disease) biolink:Disease mondo UMLS:CN236649|ICD10:E78.5|HP:0003077|UMLS:C0020473|COHD:432867|SCTID:55822004|EFO:0003774|ICD9:272.4|MESH:D006949 UMLS:C0020473|UMLS:CN236649|SNOMEDCT:55822004|MESH:D006949 http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipemia|hyperlipidemia|lipidemias|lipemia|lipemias|lipidemia|hyperlipemias HP:0002883 Hyperventilation biolink:PhenotypicFeature mondo MSH:D006985|SNOMEDCT_US:68978004|UMLS:C0020578 Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. http://purl.obolibrary.org/obo/HP_0002883 Rapid breathing HP:0000223 Abnormality of taste sensation biolink:PhenotypicFeature mondo UMLS:C4025879 http://purl.obolibrary.org/obo/HP_0000223 Abnormality of taste sensation HGNC:24797 FAM83H biolink:OntologyClass mondo http://identifiers.org/hgnc/24797 ENVO:00000020 lake biolink:OntologyClass mondo A body of water or other liquid of considerable size contained in a depression on a landmass. http://purl.obolibrary.org/obo/ENVO_00000020 loch|lochan|llyn|lough|mortlake|tarn|broad|pasteuer lake|catch basin|open water|mere GO:0005777 peroxisome biolink:OntologyClass mondo A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. http://purl.obolibrary.org/obo/GO_0005777 peroxisomal|peroxisome vesicle GO:0030730 sequestering of triglyceride biolink:OntologyClass mondo The process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. http://purl.obolibrary.org/obo/GO_0030730 storage of triacylglycerol|triacylglycerol storage|retention of triacylglycerol|triglyceride sequestering|triglyceride retention|sequestration of triglyceride|triglyceride storage|sequestration of triacylglycerol|triacylglycerol sequestration|triacylglycerol sequestering|sequestering of triacylglycerol|retention of triglyceride|storage of triglyceride|triacylglycerol retention|triglyceride sequestration GO:0030731 guanidinoacetate N-methyltransferase activity biolink:OntologyClass mondo Catalysis of the reaction: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine + H(+). http://purl.obolibrary.org/obo/GO_0030731 methionine-guanidinoacetic transmethylase activity|guanidinoacetate methyltransferase activity|GA methylpherase activity|S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase activity|guanidinoacetate transmethylase activity|guanidoacetate methyltransferase activity GO:0005775 vacuolar lumen biolink:OntologyClass mondo The volume enclosed within the vacuolar membrane. http://purl.obolibrary.org/obo/GO_0005775 MONDO:0060779 acquired Fanconi syndrome biolink:Disease mondo SCTID:236467001|NCIT:C78296|UMLS:C0341702 Fanconi Syndrome caused by exposure to noxious agents. NCIT:C78296|UMLS:C0341702|SNOMEDCT:236467001 http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome GO:0005773 vacuole biolink:OntologyClass mondo A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. http://purl.obolibrary.org/obo/GO_0005773 vacuolar carboxypeptidase Y MONDO:0060778 adult Fanconi syndrome biolink:Disease mondo NCIT:C4377 Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. -- 2003 NCIT:C4377 http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi's syndrome|adult Fanconi syndrome MONDO:0060777 cervical fibroepithelial polyp biolink:Disease mondo UMLS:C1516413|NCIT:C40200 A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium. UMLS:C1516413|NCIT:C40200 http://purl.obolibrary.org/obo/MONDO_0060777 uterine cervix fibroepithelial polyp|Cervical fibroepithelial polyp MONDO:0060774 vaginal fibroepithelial polyp biolink:Disease mondo NCIT:C4948|UMLS:C0750071 A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells. UMLS:C0750071|NCIT:C4948 http://purl.obolibrary.org/obo/MONDO_0060774 fibroepithelial polyp of the vagina|vaginal fibroepithelial stromal polyp|vaginal fibroepithelial polyp|fibroepithelial polyp of vagina HP:0000275 Narrow face biolink:PhenotypicFeature mondo UMLS:C1837463|UMLS:C1849121 Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). http://purl.obolibrary.org/obo/HP_0000275 Transverse hypoplasia of face|Narrow face|Thin face|Horizontal deficiency of face|Transverse insufficiency of face|Decreased horizontal dimension of face|Narrow facies|Horizontal hypoplasia of face|Thin facies|Decreased breadth of face|Decreased transverse dimension of face|Transverse deficiency of face|Horizontal insufficiency of face|Decreased width of face hposlim_core MONDO:0060782 premalignant hematological system disease biolink:Disease mondo NCIT:C27274|UMLS:C1335471 A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes. NCIT:C27274|UMLS:C1335471 http://purl.obolibrary.org/obo/MONDO_0060782 premalignant hematologic condition MONDO:0060781 Preeyasombat-Varavithya syndrome biolink:Disease mondo MESH:C535269|UMLS:C2930859 MESH:C535269|UMLS:C2930859 http://purl.obolibrary.org/obo/MONDO_0060781 Fanconi syndrome caused by degraded tetracycline HP:0000274 Small face biolink:PhenotypicFeature mondo UMLS:C1855538 A face that is short (HP:0011219) and narrow (HP:0000275). http://purl.obolibrary.org/obo/HP_0000274 Hypoplasia of face|Facial hypoplasia|Small facies|Short and narrow face|Small face|Microfacies|Microface HP:0000277 Abnormality of the mandible biolink:PhenotypicFeature mondo UMLS:C4025870 Any abnormality of the mandible, the bone of the lower jaw. http://purl.obolibrary.org/obo/HP_0000277 Abnormality of the lower jaw bone|Anomaly of the mandible|Deformity of the lower jaw bone|Malformation of the lower jaw bone|Abnormality of the mandible|Deformity of the mandible|Malformation of the mandible hposlim_core HP:0000278 Retrognathia biolink:PhenotypicFeature mondo UMLS:C3494422|MSH:D063173 An abnormality in which the mandible is mislocalised posteriorly. http://purl.obolibrary.org/obo/HP_0000278 Weak chin|Retrognathia of lower jaw|Retrogenia|Receding mandible|Lower jaw retrognathia|Weak jaw|Receding chin|Receding lower jaw hposlim_core UBERON:0007617 synovial cavity of joint biolink:AnatomicalEntity mondo An anatomical cavity that surrounded_by a synovial joint. http://purl.obolibrary.org/obo/UBERON_0007617 cavitas articularis (junctura synovialis)|articular cavity (synovial joint)|cavity of synovial joint|synovial cavity|joint cavity UBERON:0007616 layer of synovial tissue biolink:AnatomicalEntity mondo A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. http://purl.obolibrary.org/obo/UBERON_0007616 synovial membrane|synovium|stratum synoviale|synovial layer|synovial tissue HP:0000271 Abnormality of the face biolink:PhenotypicFeature mondo UMLS:C0266617|SNOMEDCT_US:118930001|UMLS:C4025871|SNOMEDCT_US:398302004|UMLS:C1290857|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004 An abnormality of the face. http://purl.obolibrary.org/obo/HP_0000271 Abnormal face|Facial anomaly|Disorder of the face|Disorder of face|Abnormality of the face|Anomaly of face|Anomaly of the face|Abnormality of the physiognomy|Abnormality of the visage|Facial abnormality|Abnormality of the countenance hposlim_core HP:0000272 Malar flattening biolink:PhenotypicFeature mondo UMLS:C4280651|UMLS:C1858085 Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. http://purl.obolibrary.org/obo/HP_0000272 Zygomatic flattening|Underdevelopment of malar bone|Flat cheekbone|Hypotrophic malar bone|Malar hypoplasia|Depressed malar region|Decreased size of malar bone hposlim_core MONDO:0060768 gingival fibroepithelial polyp biolink:Disease mondo SCTID:235001002|UMLS:C0399441|NCIT:C4693 A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma. NCIT:C4693|SNOMEDCT:235001002|UMLS:C0399441 http://purl.obolibrary.org/obo/MONDO_0060768 gum fibroepithelial polyp|fibroepithelial polyp of the gingiva|fibroepithelial polyp of gingiva|gingival fibroepithelial polyp|fibroepithelial polyp of the gum|fibroepithelial polyp of gum HGNC:22140 FAM20C biolink:OntologyClass mondo http://identifiers.org/hgnc/22140 MONDO:0060766 anal polyp biolink:Disease mondo SCTID:88580009|UMLS:C0267573|NCIT:C3957 A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma. UMLS:C0267573|NCIT:C3957|SNOMEDCT:88580009 http://purl.obolibrary.org/obo/MONDO_0060766 anal polyp|polyp of anus|polyp of the anus MONDO:0060765 fibroepithelial polyp biolink:Disease mondo NCIT:C3337 A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp. NCIT:C3337 http://purl.obolibrary.org/obo/MONDO_0060765 fibroepithelial polyp|fibropapilloma, benign MONDO:0060764 tetraamelia syndrome 1 biolink:Disease mondo OMIM:273395 http://identifiers.org/omim/273395 http://purl.obolibrary.org/obo/MONDO_0060764 tetraamelia syndrome, autosomal recessive|TETAMS1|tetraamelia syndrome 1; TETAMS1 MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities biolink:Disease mondo OMIM:618092 http://identifiers.org/omim/618092 http://purl.obolibrary.org/obo/MONDO_0060763 INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities; IDDSFTA|IDDSFTA HP:0012252 Abnormal respiratory system morphology biolink:PhenotypicFeature mondo Fyler:4235|UMLS:C4022992 A structural anomaly of the respiratory system. http://purl.obolibrary.org/obo/HP_0012252 MONDO:0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum biolink:Disease mondo OMIM:618090 http://identifiers.org/omim/618090 http://purl.obolibrary.org/obo/MONDO_0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum; NEDEHCC|NEDEHCC HP:0000286 Epicanthus biolink:PhenotypicFeature mondo UMLS:C0678230 A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. http://purl.obolibrary.org/obo/HP_0000286 Epicanthal folds|Epicanthic folds|Prominent eye folds|Epicanthal fold|Palpebronasal fold|Eye folds|Plica palpebronasalis hposlim_core GO:0015108 chloride transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of chloride ions from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0015108 chloride ion transmembrane transporter activity GO:0015103 inorganic anion transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0015103 UBERON:0007602 stratified columnar epithelium biolink:AnatomicalEntity mondo Stratified columnar epithelia is a rare type of epithelial tissue composed of column shaped cells arranged in multiple layers. Stratified columnar epithelia are found in the ocular conjunctiva of the eye, in parts of the pharynx and anus, the female's uterus, the male urethra and vas deferens. Also found in intralobular ducts in salivary glands.[WP] http://purl.obolibrary.org/obo/UBERON_0007602 epithelium stratificatum columnare UBERON:0007601 ciliated epithelium biolink:AnatomicalEntity mondo Epithelium bearing vibratile cilia on the free surface. http://purl.obolibrary.org/obo/UBERON_0007601 HP:0012243 Abnormal reproductive system morphology biolink:PhenotypicFeature mondo UMLS:C4021096 A structural or developmental anomaly of any of the tissues involved in the genital system. http://purl.obolibrary.org/obo/HP_0012243 Abnormal genital system morphology ENVO:00000002 anthropogenic geographic feature biolink:OntologyClass mondo An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. http://purl.obolibrary.org/obo/ENVO_00000002 man-made feature|manmade feature GO:0005759 mitochondrial matrix biolink:OntologyClass mondo The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. http://purl.obolibrary.org/obo/GO_0005759 mitochondrial stroma|mitochondrial lumen ENVO:00000000 geographic feature biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_00000000 macroscopic spatial feature GO:0005753 mitochondrial proton-transporting ATP synthase complex biolink:OntologyClass mondo A proton-transporting ATP synthase complex found in the mitochondrial membrane. http://purl.obolibrary.org/obo/GO_0005753 mitochondrial respiratory chain complex V GO:0005750 mitochondrial respiratory chain complex III biolink:OntologyClass mondo A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. Contains about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. http://purl.obolibrary.org/obo/GO_0005750 mitochondrial coenzyme Q-cytochrome c oxidoreductase complex|mitochondrial coenzyme Q-cytochrome c reductase complex|mitochondrial ubiquinol-cytochrome c oxidoreductase complex|mitochondrial electron transport complex III|mitochondrial complex III|mitochondrial cytochrome bc1 complex|mitochondrial cytochrome bc(1) complex|mitochondrial ubiquinol-cytochrome-c reductase complex HP:0000252 Microcephaly biolink:PhenotypicFeature mondo UMLS:C0424688|SNOMEDCT_US:271611007|Fyler:4310 Head circumference below 2 standard deviations below the mean for age and gender. http://purl.obolibrary.org/obo/HP_0000252 Decreased size of cranium|Abnormally small cranium|Reduced head circumference|small calvarium|Small head|small cranium|Abnormally small head|Decreased size of head|Small skull|Abnormally small skull|Decreased size of skull|Decreased circumference of cranium|Small head circumference hposlim_core HGNC:12796 WT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12796 HP:0000256 Macrocephaly biolink:PhenotypicFeature mondo UMLS:C4280664|UMLS:C4280663|Fyler:4335|UMLS:C4083076|UMLS:C4255213 Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. http://purl.obolibrary.org/obo/HP_0000256 Big head|Increased size of skull|Large head|Large head circumference|Megacephaly|Big skull|Increased size of cranium|Large skull|Large calvaria|Increased size of head|Big cranium|Macrocrania|Large cranium|Big calvaria hposlim_core HGNC:12799 WWOX biolink:OntologyClass mondo http://identifiers.org/hgnc/12799 MONDO:0033187 combined oxidative phosphorylation defect type 29 biolink:Disease mondo Orphanet:478029 ORPHA:478029 http://purl.obolibrary.org/obo/MONDO_0033187 ordo_disease HGNC:12791 WRN biolink:OntologyClass mondo http://identifiers.org/hgnc/12791 ENVO:00000012 hydrographic feature biolink:OntologyClass mondo A geographical feature associated with water. http://purl.obolibrary.org/obo/ENVO_00000012 fluvial feature HP:0012234 Agranulocytosis biolink:PhenotypicFeature mondo UMLS:C0702094 Marked decrease in the number of granulocytes. http://purl.obolibrary.org/obo/HP_0012234 GO:0005766 primary lysosome biolink:OntologyClass mondo A lysosome before it has fused with a vesicle or vacuole. http://purl.obolibrary.org/obo/GO_0005766 GO:0005764 lysosome biolink:OntologyClass mondo A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. http://purl.obolibrary.org/obo/GO_0005764 GO:0005761 mitochondrial ribosome biolink:OntologyClass mondo A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes. http://purl.obolibrary.org/obo/GO_0005761 55S ribosome, mitochondrial HGNC:24783 LRIT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/24783 CHEBI:42485 formyl group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_42485 aldehyde group|carbaldehyde|-CH(O)|-CHO|formyl|H-CO-|FORMYL GROUP|methanoyl|Fo GO:0030705 cytoskeleton-dependent intracellular transport biolink:OntologyClass mondo The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. http://purl.obolibrary.org/obo/GO_0030705 MONDO:0060783 classic congenital adrenal hyperplasia biolink:Disease mondo UMLS:C4329672|NCIT:C131423 A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. UMLS:C4329672|NCIT:C131423 http://purl.obolibrary.org/obo/MONDO_0060783 classic CAH|classic congenital adrenal hyperplasia MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in biolink:Disease mondo OMIMPS:227220 http://purl.obolibrary.org/obo/MONDO_0033196 ENVO:00000019 saline lake biolink:OntologyClass mondo A lake whose water contains a considerable concentration of dissolved salts. http://purl.obolibrary.org/obo/ENVO_00000019 salina|salt lake|soda lake ENVO:00000016 sea biolink:OntologyClass mondo A large expanse of saline water usually connected with an ocean. http://purl.obolibrary.org/obo/ENVO_00000016 channel|open water|closed sea|Sea|sea|open sound|open sea|marginal sea ENVO:00000017 saline hydrographic feature biolink:OntologyClass mondo A geographical feature associated with water with a halinity above 30 ppt (roughly 35 g/L). http://purl.obolibrary.org/obo/ENVO_00000017 MONDO:0033198 deafness, autosomal recessive 106 biolink:Disease mondo OMIM:617637|DOID:0080261 DOID:0080261|http://identifiers.org/omim/617637 http://purl.obolibrary.org/obo/MONDO_0033198 autosomal recessive nonsyndromic deafness 106|deafness, autosomal recessive 106; DFNB106|DFNB106 MONDO:0033199 deafness, autosomal recessive 107 biolink:Disease mondo OMIM:617639|DOID:0080262 DOID:0080262|http://identifiers.org/omim/617639 http://purl.obolibrary.org/obo/MONDO_0033199 DFNB107|autosomal recessive nonsyndromic deafness 107|deafness, autosomal recessive 107; DFNB107 ENVO:00000015 ocean biolink:OntologyClass mondo A marine water body which is constitutes the majority of an astronomical body's hydrosphere. http://purl.obolibrary.org/obo/ENVO_00000015 ocean region|ocean|Ocean MONDO:0023679 hematohidrosis biolink:Disease mondo GARD:0013131|UMLS:C0473554|ICD10:L74.8|SCTID:238757003|ICD9:705.89 Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting. UMLS:C0473554|SNOMEDCT:238757003 http://purl.obolibrary.org/obo/MONDO_0023679 Hematohidrosis|Hematidrosis gard_rare MONDO:0008039 tropical spastic paraparesis biolink:Disease mondo MedDRA:10044696|ICD10:G04.1|SCTID:714279000|UMLS:C0030481|Orphanet:289326|ICD9:323.01|EFO:0007527|DOID:321|GARD:0008208|MESH:D015493|OMIM:159580 Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection. MESH:D015493|DOID:321|UMLS:C0030481|SNOMEDCT:714279000|ORPHA:289326|http://identifiers.org/omim/159580|MEDDRA:10044696 http://purl.obolibrary.org/obo/MONDO_0008039 Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis|myelopathy, HTLV-1-associated|TSP|ham/TSP|tropical spastic paraparesis (formerly)|myelopathy, HTLV-1-associated; ham|HTLV-associated myelopathy|Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis|familial spastic paraparesis, HTLV-1-associated|ham|HTLV-1 associated myelopathy/tropical spastic paraparesis|tropical spastic paraplegia|HTLV-1-associated myelopathy/tropical spastic paraparesis|tropical spastic paralysis|Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis ordo_disease MONDO:0021017 synaptopathy biolink:Disease mondo A disease caused by dysfunction of synapses. http://purl.obolibrary.org/obo/MONDO_0021017 MONDO:0021016 channelopathy biolink:Disease mondo MESH:D053447|UMLS:C1720983 A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. MESH:D053447|UMLS:C1720983 http://purl.obolibrary.org/obo/MONDO_0021016 disorder of ion channel activity|disorder of ion channel activity|ion channel activity disease MONDO:0008037 myelinated optic nerve fibers biolink:Disease mondo OMIM:159500 http://identifiers.org/omim/159500 http://purl.obolibrary.org/obo/MONDO_0008037 myelinated optic nerve fibers MONDO:0008038 ataxia-pancytopenia syndrome biolink:Disease mondo ICD10:D61.0|OMIM:159550|MESH:C563233|GARD:0003865|UMLS:C1327919|Orphanet:2585|SCTID:768556005 Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. SNOMEDCT:768556005|ORPHA:2585|UMLS:C1327919|MESH:C563233|http://identifiers.org/omim/159550 http://purl.obolibrary.org/obo/MONDO_0008038 ataxia-pancytopenia syndrome|ATXPC|ataxia-pancytopenia syndrome; ATXPC|myelocerebellar disorder ordo_malformation_syndrome MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia biolink:Disease mondo OMIM:617780|UMLS:C4540434 http://identifiers.org/omim/617780|UMLS:C4540434 http://purl.obolibrary.org/obo/MONDO_0060611 methylenetetrahydrofolate dehydrogenase 1 deficiency|CIMAH|combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia; CIMAH MONDO:0021013 trichothiodystrophy 4, nonphotosensitive biolink:Disease mondo Orphanet:75790|NCIT:C146899|SCTID:403796005|OMIM:234050|DOID:0050528|ICD9:704.8|ICD9:783.43 A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein. http://identifiers.org/omim/234050|ORPHA:75790|SNOMEDCT:403796005|DOID:0050528|NCIT:C146899 http://purl.obolibrary.org/obo/MONDO_0021013 trichothiodystrophy 4, nonphotosensitive; TTD4|MPLKIP nonphotosensitive trichothiodystrophy|nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP|trichothiodystrophy-neurocutaneous syndrome|Amish brittle hair brain syndrome|BIDS syndrome|nonphotosensitive trichothiodystrophy|trichothiodystrophy, nonphotosensitive 1|Pollitt syndrome|hair-brain syndrome|TTD4|trichothiodystrophy 4, nonphotosensitive MONDO:0008035 muscular hypoplasia, congenital universal, of Krabbe biolink:Disease mondo UMLS:C1834651|MESH:C563553|OMIM:159100 http://identifiers.org/omim/159100|MESH:C563553|UMLS:C1834651 http://purl.obolibrary.org/obo/MONDO_0008035 muscular hypoplasia, congenital universal, of Krabbe MONDO:0008036 myasthenia, limb-girdle, autoimmune biolink:Disease mondo OMIM:159400|MESH:C563552|UMLS:C1834635|GARD:0008575 http://identifiers.org/omim/159400|MESH:C563552|UMLS:C1834635 http://purl.obolibrary.org/obo/MONDO_0008036 myasthenia gravis, limb-girdle|myasthenia, limb-girdle, autoimmune MONDO:0021012 susceptibility to visceral leishmaniasis, 1 biolink:Disease mondo OMIM:608207 http://identifiers.org/omim/608207 http://purl.obolibrary.org/obo/MONDO_0021012 KAZA1|kala-Azar, susceptibility to, 1; KAZA1|kala-Azar, susceptibility to, 1|leishmaniasis, visceral, susceptibility to, 1 predisposition HGNC:24872 GNAS-AS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24872 MONDO:0021011 hereditary progressive chorea without dementia biolink:Disease mondo OMIM:118700 http://identifiers.org/omim/118700 http://purl.obolibrary.org/obo/MONDO_0021011 chorea, benign hereditary|hereditary progressive chorea without dementia|chorea, benign hereditary; BHC|BHC|BCH MONDO:0008033 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B biolink:Disease mondo Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death. http://purl.obolibrary.org/obo/MONDO_0008033 MONDO:0021010 skin lymphangiosarcoma biolink:Disease mondo NCIT:C4490|UMLS:C0346082|SCTID:62497000|ICD9:171.2 A malignant vascular neoplasm of the skin arising from the lymphatic vessels. SNOMEDCT:62497000|UMLS:C0346082|NCIT:C4490 http://purl.obolibrary.org/obo/MONDO_0021010 skin lymphangiosarcoma|lymphangiosarcoma of Stewart and Treves|lymphangiosarcoma of skin|lymphangiosarcoma of the skin|lymphangiosarcoma of Stewart and Treves MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries biolink:Disease mondo MESH:C563554|UMLS:C1834652|OMIM:159050 http://identifiers.org/omim/159050|MESH:C563554|UMLS:C1834652 http://purl.obolibrary.org/obo/MONDO_0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries MONDO:0011694 spinocerebellar ataxia type 15/16 biolink:Disease mondo ICD10:G11.2|UMLS:C4274322|UMLS:C1847725|OMIM:606658|SCTID:716724006|DOID:0050965|Orphanet:98769|MESH:C564685|GARD:0010477 Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment. UMLS:C1847725|UMLS:C4274322|ORPHA:98769|DOID:0050965|http://identifiers.org/omim/606658|MESH:C564685|SNOMEDCT:716724006 http://purl.obolibrary.org/obo/MONDO_0011694 spinocerebellar ataxia 15|SCA15/16|spinocerebellar ataxia type 15|SCA16 (formerly)|spinocerebellar ataxia 16, formerly|spinocerebellar ataxia 16|spinocerebellar ataxia 15; SCA15|spinocerebellar ataxia 16 (formerly)|spinocerebellar ataxia type 15/16|SCA15 ordo_disease MONDO:0008031 facioscapulohumeral muscular dystrophy 2 biolink:Disease mondo OMIM:158901|UMLS:C1834671|MESH:C563557 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene. MESH:C563557|http://identifiers.org/omim/158901|UMLS:C1834671 http://purl.obolibrary.org/obo/MONDO_0008031 facioscapulohumeral muscular dystrophy type 2|SMCHD1 facioscapulohumeral muscular dystrophy|facioscapulohumeral muscular dystrophy 2|facioscapulohumeral muscular dystrophy 2; FSHD2|facioscapulohumeral muscular dystrophy 2, digenic|muscular dystrophy, facioscapulohumeral, type 2|FSHD2|Fshd2, digenic|muscular dystrophy, facioscapulohumeral, type 1B|facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1 MONDO:0011693 glaucoma, normal tension, susceptibility to biolink:Disease mondo OMIM:606657 http://identifiers.org/omim/606657 http://purl.obolibrary.org/obo/MONDO_0011693 NTG|glaucoma, normal pressure, susceptibility to|glaucoma, normal tension, susceptibility to predisposition MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A biolink:Disease mondo UMLS:C1834659|OMIM:159000|ICD10:G71.0|Orphanet:266|DOID:0110300|SCTID:719985001|MESH:C535906|GARD:0010229 Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. SNOMEDCT:719985001|ORPHA:266|DOID:0110300|http://identifiers.org/omim/159000|MESH:C535906|UMLS:C1834659 http://purl.obolibrary.org/obo/MONDO_0008032 muscular dystrophy, limb-girdle, type 1A|MYOT autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy limb-girdle type 1A|LGMD1A|muscular dystrophy, limb-girdle, type 1A; LGMD1A|proximal muscular dystrophy type 1A|limb-girdle muscular dystrophy type 1A|limb-girdle muscular dystrophy due to myotilin deficiency|LGMD1|autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT|muscular dystrophy, proximal, type 1A ordo_disease|gard_rare MONDO:0011696 melanoma, uveal, susceptibility to, 2 biolink:Disease mondo OMIM:606661 http://identifiers.org/omim/606661 http://purl.obolibrary.org/obo/MONDO_0011696 melanoma, uveal, susceptibility to, type 2|Uvm2|melanoma, uveal, susceptibility to, 2 predisposition MONDO:0011695 melanoma, uveal, susceptibility to, 1 biolink:Disease mondo OMIM:606660 http://identifiers.org/omim/606660 http://purl.obolibrary.org/obo/MONDO_0011695 melanoma, uveal, susceptibility to, type 1|Uvm1|melanoma, uveal, susceptibility to, 1 predisposition MONDO:0008030 facioscapulohumeral muscular dystrophy 1 biolink:Disease mondo GARD:0009941|OMIM:158900|MESH:C536391 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene. MESH:C536391|http://identifiers.org/omim/158900 http://purl.obolibrary.org/obo/MONDO_0008030 Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included|facioscapulohumeral muscular dystrophy type 1|muscular dystrophy, facioscapulohumeral, type 1A|facioscapulohumeral muscular dystrophy 1; FSHD1|FSHMD1A|FSHD|facioscapulohumeral muscular dystrophy caused by mutation in FRG1|facioscapulohumeral muscular dystrophy 1A|facioscapulohumeral muscular dystrophy|muscular dystrophy, facioscapulohumeral, type 1|muscular dystrophy, facioscapulohumeral|facioscapulohumeral muscular dystrophy, infantile|Landouzy-Dejerine muscular dystrophy|FRG1 facioscapulohumeral muscular dystrophy|FSHD1|facioscapulohumeral muscular dystrophy 1|FSHD1A|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included|FMD|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles gard_rare MONDO:0011698 glycine N-methyltransferase deficiency biolink:Disease mondo OMIM:606664|UMLS:C1847720|DOID:0111037|ICD10:E72.1|SCTID:763720007|GARD:0010764|Orphanet:289891 Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases. ORPHA:289891|UMLS:C1847720|SNOMEDCT:763720007|DOID:0111037|http://identifiers.org/omim/606664 http://purl.obolibrary.org/obo/MONDO_0011698 hypermethioninemia due to GNMT deficiency|GNMT deficiency|glycine N-methyltransferase deficiency|Glycine N-methyltransferase deficiency|hypermethioninemia due to glycine N-methyltransferase deficiency ordo_disease|gard_rare MONDO:0011697 Waardenburg syndrome type 2C biolink:Disease mondo UMLS:C1847722|DOID:0110951|OMIM:606662|MESH:C564684 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23. MESH:C564684|DOID:0110951|UMLS:C1847722|http://identifiers.org/omim/606662 http://purl.obolibrary.org/obo/MONDO_0011697 WS2C|Waardenburg syndrome type IIC|Waardenburg syndrome, type 2C|Waardenburg syndrome, type 2C; WS2C MONDO:0021009 salivary gland mucoepidermoid carcinoma biolink:Disease mondo SCTID:423708008|NCIT:C5908|UMLS:C1335903 A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. SNOMEDCT:423708008|NCIT:C5908|UMLS:C1335903 http://purl.obolibrary.org/obo/MONDO_0021009 salivary gland mucoepidermoid carcinoma|saliva-secreting gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of salivary gland|mucoepidermoid carcinoma of the salivary gland MONDO:0021008 secondary antiphospholipid syndrome biolink:Disease mondo SCTID:239895006|UMLS:C0409983|ICD9:795.79 An antiphospholipid syndrome that occurs alongside another autoimmune disorder. SNOMEDCT:239895006|UMLS:C0409983 http://purl.obolibrary.org/obo/MONDO_0021008 MONDO:0011699 inflammatory bowel disease 8 biolink:Disease mondo MESH:C564682|OMIM:606668|DOID:0110904|UMLS:C1847719 An inflammatory bowel disease that has material basis in variation in the chromosome region 16p. MESH:C564682|DOID:0110904|UMLS:C1847719|http://identifiers.org/omim/606668 http://purl.obolibrary.org/obo/MONDO_0011699 inflammatory bowel disease 8; IBD8|inflammatory bowel disease 8|IBD8|inflammatory bowel disease type 8 MONDO:0021007 obsolete stage of disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021007 MONDO:0033006 Galloway-Mowat syndrome 2, X-linked biolink:Disease mondo OMIM:301006|UMLS:CN570502|DOID:0080244 UMLS:CN570502|http://identifiers.org/omim/301006|DOID:0080244 http://purl.obolibrary.org/obo/MONDO_0033006 GAMOS2|Galloway-Mowat syndrome 2|Galloway-Mowat syndrome 2, X-linked; GAMOS2 MONDO:0033007 Galloway-Mowat syndrome 3 biolink:Disease mondo UMLS:CN570505|OMIM:617729|DOID:0080245 UMLS:CN570505|http://identifiers.org/omim/617729|DOID:0080245 http://purl.obolibrary.org/obo/MONDO_0033007 GAMOS3|Galloway-Mowat syndrome 3; GAMOS3 MONDO:0033004 polycystic kidney disease 4 biolink:Disease mondo OMIM:263200|DOID:0080212 A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. http://identifiers.org/omim/263200|DOID:0080212 http://purl.obolibrary.org/obo/MONDO_0033004 PKD3, formerly|PKD3|polycystic kidney disease, infantile, type 1|polycystic kidney disease 4 with or without polycystic liver disease; PKD4|PKD4|hepatic fibrosis, congenital|polycystic kidney disease 4|polycystic kidney and hepatic disease 1|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease MONDO:0033005 Galloway-Mowat syndrome 1 biolink:Disease mondo UMLS:CN031715|OMIM:251300 http://identifiers.org/omim/251300|UMLS:CN031715 http://purl.obolibrary.org/obo/MONDO_0033005 cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|Galloway-Mowat syndrome 1; GAMOS1|GAMOS1|nephrosis-neuronal dysmigration syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|Galloway syndrome|spinocerebellar ataxia, autosomal recessive 5|nephrosis-microcephaly syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities MONDO:0011690 Camurati-Engelmann disease, type 2 biolink:Disease mondo MESH:C537978|GARD:0008748|UMLS:C2931683|OMIM:606631 Camurati-Engelmann Disease not associated with TGFB1 UMLS:C2931683|MESH:C537978|http://identifiers.org/omim/606631 http://purl.obolibrary.org/obo/MONDO_0011690 Camurati Engelmann disease, type 2|progressive diaphyseal dysplasia with striations of the bones|Camurati-Engelmann disease, type 2|CAEND2 speculative|n_of_one MONDO:0011692 IBGC2 biolink:Disease mondo UMLS:C1847731|MESH:C537657|OMIM:606656 UMLS:C1847731|MESH:C537657|http://identifiers.org/omim/606656 http://purl.obolibrary.org/obo/MONDO_0011692 IBGC2|basal ganglia calcification, idiopathic, 2|basal ganglia calcification, idiopathic, 2; IBGC2 MONDO:0011691 amyotrophic lateral sclerosis type 3 biolink:Disease mondo DOID:0060195|OMIM:606640|GARD:0010501|MESH:C564688 http://identifiers.org/omim/606640|DOID:0060195|MESH:C564688 http://purl.obolibrary.org/obo/MONDO_0011691 amyotrophic lateral sclerosis 3; ALS3|ALS3|amyotrophic lateral sclerosis 3 gard_rare MONDO:0023663 obsolete macrocephaly mesodermal hamartoma spectrum biolink:Disease mondo UMLS:C1867610|GARD:0000170|MESH:C537716 UMLS:C1867610|MESH:C537716 http://purl.obolibrary.org/obo/MONDO_0023663 Elattoproteus syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|hemihypertrophy and macrocephaly gard_rare MONDO:0033008 Galloway-Mowat syndrome 4 biolink:Disease mondo UMLS:CN570506|OMIM:617730|DOID:0080246 UMLS:CN570506|http://identifiers.org/omim/617730|DOID:0080246 http://purl.obolibrary.org/obo/MONDO_0033008 Galloway-Mowat syndrome 4; GAMOS4|GAMOS4 MONDO:0033009 Galloway-Mowat syndrome 5 biolink:Disease mondo UMLS:CN570507|OMIM:617731|DOID:0080247 UMLS:CN570507|http://identifiers.org/omim/617731|DOID:0080247 http://purl.obolibrary.org/obo/MONDO_0033009 Galloway-Mowat syndrome 5; GAMOS5|GAMOS5 MONDO:0021005 faciodigitogenital syndrome biolink:Disease mondo MedDRA:10067148|ICD10:Q87.1 A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome. UMLS:C0175701|MEDDRA:10067148 http://purl.obolibrary.org/obo/MONDO_0021005 faciogenital dysplasia|Aarskog syndrome|Aarskog-Scott syndrome MONDO:0011679 craniosynostosis syndrome, autosomal recessive biolink:Disease mondo MESH:C564700|UMLS:C1847865|OMIM:606529 Autosomal recessive form of craniosynostosis. http://identifiers.org/omim/606529|MESH:C564700|UMLS:C1847865 http://purl.obolibrary.org/obo/MONDO_0011679 craniosynostosis syndrome, autosomal recessive|craniosynostosis, autosomal recessive|autosomal recessive craniosynostosis MONDO:0008048 autosomal dominant centronuclear myopathy biolink:Disease mondo Orphanet:169189|SCTID:716696006|ICD10:G71.2|GARD:0012719|UMLS:C1834558|OMIM:160150|NCIT:C126689 Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. ORPHA:169189|NCIT:C126689|http://identifiers.org/omim/160150|UMLS:C1834558|SNOMEDCT:716696006 http://purl.obolibrary.org/obo/MONDO_0008048 DNM2-related centronuclear myopathy|centronuclear myopathy, autosomal dominant|myopathy, centronuclear, 1|CNM1|myopathy, centronuclear, 1; CNM1|AD-CNM|myopathy, centronuclear, autosomal dominant|myopathy, centronuclear, type 1|centronuclear myopathy 1|myotubular myopathy, autosomal dominant prototype_pattern|ordo_disease|gard_rare MONDO:0021004 brachydactyly (disease) biolink:Disease mondo HP:0001156|DOID:0050581|MESH:D059327 A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. DOID:0050581|MESH:D059327 http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly MONDO:0021003 polydactyly (disease) biolink:Disease mondo OMIM:603596|COHD:74740|ICD10:Q69.2|ICD10:Q69|ICD10:Q69.1|ICD10:Q69.9|HP:0010442|ICD10:Q69.0|NCIT:C87110|ICD9:755.0|SCTID:367506006|MedDRA:10036063|DOID:1148|ICD9:755.00 A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms. NCIT:C87110|DOID:1148|http://identifiers.org/omim/603596|SNOMEDCT:367506006 http://purl.obolibrary.org/obo/MONDO_0021003 polydactylism|postaxial polydactyly|polydactyly|hyperdactyly|supernumerary digit MONDO:0008049 myopathy, distal, infantile-onset biolink:Disease mondo UMLS:C4011725|UMLS:C1834556|DOID:0070196|OMIM:160300 DOID:0070196|UMLS:C4011725|UMLS:C1834556|http://identifiers.org/omim/160300 http://purl.obolibrary.org/obo/MONDO_0008049 myopathy, distal, infantile-onset MONDO:0008046 autosomal dominant myoglobinuria biolink:Disease mondo SCTID:725903003|ICD10:R82.1|OMIM:160010|MESH:C563546|Orphanet:99846|UMLS:C1834567 Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. ORPHA:99846|MESH:C563546|http://identifiers.org/omim/160010|UMLS:C1834567|SNOMEDCT:725903003 http://purl.obolibrary.org/obo/MONDO_0008046 myoglobinuria, autosomal dominant ordo_disease MONDO:0021002 syndactyly (disease) biolink:Disease mondo HP:0001159|ICD9:755.1|ICD10:Q70.4|ICD10:Q70.3|ICD10:Q70.2|ICD10:Q70.1|MedDRA:10042778|ICD10:Q70.0|ICD10:Q70.9|ICD10:Q70|DOID:11193 A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms. DOID:11193 http://purl.obolibrary.org/obo/MONDO_0021002 MONDO:0021001 hemochromatosis type 1 biolink:Disease mondo NCIT:C84764|EFO:0006513|DOID:0111029|Orphanet:465508|GARD:0010417|ICD9:275.01|OMIM:235200|ICD10:E83.1|UMLS:CN242134 Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease http://identifiers.org/omim/235200|NCIT:C84764|UMLS:CN242134|DOID:0111029|ORPHA:465508 http://purl.obolibrary.org/obo/MONDO_0021001 HFE1|hemochromatosis, type 1|HFE-related hemochromatosis|symptomatic form of classic hemochromatosis|symptomatic form of HFE-related hereditary hemochromatosis|hemochromatosis, type 1; HFE1|classic hemochromatosis|C282Y/C282Y hemochromatosis|symptomatic form of hemochromatosis type 1|HFE-associated hereditary hemochromatosis ordo_disease MONDO:0008047 episodic ataxia type 1 biolink:Disease mondo OMIM:160120|SCTID:421182009|Orphanet:37612|UMLS:C1719788|ICD10:G11.8|UMLS:CN042654|DOID:0050989 Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. SNOMEDCT:421182009|UMLS:C1719788|DOID:0050989|UMLS:CN042654|ORPHA:37612|http://identifiers.org/omim/160120 http://purl.obolibrary.org/obo/MONDO_0008047 EA1|ataxia, episodic, with myokymia|Isaacs-Mertens syndrome|myokymia 1 with or without hypomagnesemia|continuous muscle fiber activity, hereditary|hereditary paroxysmal ataxia with neuromyotonia|acetazolamide-responsive periodic ataxia|continuous muscle fiber activity|KCNA1 hereditary episodic ataxia|myokymia with periodic ataxia|familial paroxysmal kinesigenic ataxia and continuous myokymia|paroxysmal ataxia with neuromyotonia, hereditary|episodic ataxia, type 1|myokymia 1|hereditary episodic ataxia caused by mutation in KCNA1|episodic ataxia, type 1; EA1|episodic ataxia with myokymia ordo_disease MONDO:0008044 myoclonic dystonia 11 biolink:Disease mondo ICD10:G24.1|DOID:0090034|OMIM:159900 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene. DOID:0090034|http://identifiers.org/omim/159900 http://purl.obolibrary.org/obo/MONDO_0008044 myoclonus-dystonia syndrome|myoclonus-dystonia syndrome caused by mutation in SGCE|DYT11|dystonia 11, myoclonic; DYT11|alcohol-responsive dystonia|dystonia 11, myoclonic|myoclonic dystonia|SGCE myoclonus-dystonia syndrome|myoclonus, hereditary essential|dystonia, alcohol-responsive|myoclonic dystonia type 11 ordo_disease MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome biolink:Disease mondo OMIM:159950|Orphanet:2590|ICD9:345.10|UMLS:C1834569|GARD:0003044|MESH:C537563|ICD10:G25.3|SCTID:703524005|GARD:0003875 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. ORPHA:2590|MESH:C537563|SNOMEDCT:703524005|http://identifiers.org/omim/159950|UMLS:C1834569 http://purl.obolibrary.org/obo/MONDO_0008045 hereditary myoclonus and progressive distal muscular atrophy|myoclonus, hereditary, with progressive distal muscular atrophy|Jankovic Rivera syndrome|spinal muscular atrophy with progressive myoclonic epilepsy|SMAPME|Jankovic-Rivera syndrome|spinal muscular atrophy with progressive myoclonic epilepsy; SMAPME|hereditary myoclonus-progressive distal muscular atrophy syndrome|myoclonus hereditary progressive distal muscular atrophy ordo_disease|gard_rare GO:1904057 negative regulation of sensory perception of pain biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of sensory perception of pain. http://purl.obolibrary.org/obo/GO_1904057 downregulation of sensory perception of pain|down regulation of perception of physiological pain|down regulation of nociception|down-regulation of perception of physiological pain|negative regulation of perception of physiological pain|inhibition of nociception|down regulation of sensory perception of pain|downregulation of nociception|inhibition of sensory perception of pain|down-regulation of sensory perception of pain|inhibition of perception of physiological pain|downregulation of perception of physiological pain|down-regulation of nociception|negative regulation of nociception MONDO:0011683 oculocutaneous albinism type 4 biolink:Disease mondo DOID:0070098|Orphanet:79435|OMIM:606574|SCTID:715632003|ICD10:E70.3|MESH:C564696|UMLS:C1847836 Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. MESH:C564696|ORPHA:79435|SNOMEDCT:715632003|DOID:0070098|UMLS:C1847836|http://identifiers.org/omim/606574 http://purl.obolibrary.org/obo/MONDO_0011683 albinism, oculocutaneous, type IV; OCA4|SLC45A2 oculocutaneous albinism|albinism, oculocutaneous, type IV|oculocutaneous albinism caused by mutation in SLC45A2|oculocutaneous albinism, type 4|OCA4|oculocutaneous albinism type IV|albinism, oculocutaneous, type 4 ordo_disease MONDO:0008042 myoclonus and ataxia biolink:Disease mondo UMLS:C1834580|GARD:0009256|OMIM:159700 http://identifiers.org/omim/159700|UMLS:C1834580 http://purl.obolibrary.org/obo/MONDO_0008042 dyssynergia cerebellaris myoclonica|progressive myoclonus ataxia|Ramsay Hunt syndrome type 1|myoclonus and ataxia|Ramsay Hunt syndrome|dentatorubral atrophy|dentate cerebellar ataxia|Ramsay Hunt syndrome type 1 (formerly)|dyssynergia cerebellaris progressiva|primary dentatum atrophy speculative MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 biolink:Disease mondo OMIM:133200 http://identifiers.org/omim/133200 http://purl.obolibrary.org/obo/MONDO_0033010 keratosis palmoplantaris transgrediens Et progrediens|erythrokeratodermia variabilis with erythema Gyratum Repens|erythrokeratodermia variabilis ET progressiva 1; EKVP1|erythrokeratodermia Figurata, congenital familial, in plaques|Greither disease|EKVP1|erythrokeratodermia variabilis Et progressiva|erythrokeratodermia variabilis|erythrokeratodermia, progressive symmetric MONDO:0011682 episodic ataxia type 3 biolink:Disease mondo DOID:0050991|ICD10:G11.8|Orphanet:79135|UMLS:C1847839|MESH:C564697|SCTID:718755009|OMIM:606554 Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. MESH:C564697|UMLS:C1847839|http://identifiers.org/omim/606554|DOID:0050991|ORPHA:79135|SNOMEDCT:718755009 http://purl.obolibrary.org/obo/MONDO_0011682 EA3|episodic ataxia, type 3|episodic ataxia, type 3; EA3|ataxia, episodic, with vertigo and tinnitus|episodic ataxia-vertigo-tinnitus-myokymia syndrome ordo_disease MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome biolink:Disease mondo ICD10:G11.1|OMIM:159800|MESH:C563549|GARD:0003873|Orphanet:2589|UMLS:C1834579 This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. MESH:C563549|http://identifiers.org/omim/159800|UMLS:C1834579|ORPHA:2589 http://purl.obolibrary.org/obo/MONDO_0008043 myoclonus, cerebellar ataxia, and deafness|myoclonus cerebellar ataxia deafness ordo_malformation_syndrome MONDO:0008040 transient myeloproliferative syndrome (disease) biolink:Disease mondo NCIT:C82339|MESH:C563551|UMLS:C1834582|ICD10:D47.7|SCTID:721307000|OMIM:159595|Orphanet:420611|HP:0005534|ONCOTREE:TAM|GARD:0012765|DOID:0060888|ICDO:9898/1 A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. MESH:C563551|http://identifiers.org/omim/159595|DOID:0060888|ORPHA:420611|UMLS:C1834582|SNOMEDCT:721307000|NCIT:C82339 http://purl.obolibrary.org/obo/MONDO_0008040 leukemia, transient|transient myeloproliferative disease|transient leurkemia of Down syndrome|myeloproliferative syndrome, transient|Transient abnormal myelopoiesis associated with Down syndrome|transient leukemia|TMD|Mst|transient myeloproliferative disorder|TAM|transient myeloproliferative syndrome|transient abnormal myelopoiesis|Transient abnormal myelopoiesis associated with Down syndrome|MST ordo_disease MONDO:0011685 polysubstance abuse, susceptibility to biolink:Disease mondo OMIM:606581 http://identifiers.org/omim/606581 http://purl.obolibrary.org/obo/MONDO_0011685 polysubstance abuse, susceptibility to|drug addiction, susceptibility to|PSAB|polysubstance abuse, susceptibility to; PSAB predisposition MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 biolink:Disease mondo OMIM:606579|UMLS:C1847835|Orphanet:247871 ORPHA:247871|UMLS:C1847835|http://identifiers.org/omim/606579 http://purl.obolibrary.org/obo/MONDO_0011684 vitiligo|vitiligo-associated multiple autoimmune disease susceptibility type 1|systemic lupus erythematosus, vitiligo-related|vitiligo-associated multiple autoimmune disease susceptibility 1; VAMAS1|VAMAS1|vitiligo-associated multiple autoimmune disease susceptibility 1 predisposition MONDO:0008041 myoclonic epilepsy, Hartung type biolink:Disease mondo MESH:C563550|UMLS:C1834581|OMIM:159600 MESH:C563550|http://identifiers.org/omim/159600|UMLS:C1834581 http://purl.obolibrary.org/obo/MONDO_0008041 myoclonic epilepsy, Hartung type MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F biolink:Disease mondo UMLS:C1847823|OMIM:606595|Orphanet:99940|DOID:0110163|UMLS:C4304675|SCTID:719510006|GARD:0009194|ICD10:G60.0|MESH:C535413 Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. DOID:0110163|http://identifiers.org/omim/606595|MESH:C535413|UMLS:C1847823|SNOMEDCT:719510006|ORPHA:99940|UMLS:C4304675 http://purl.obolibrary.org/obo/MONDO_0011687 Charcot-Marie-Tooth disease, axonal, type 2F|Charcot-Marie-Tooth disease, axonal, type 2F; CMT2F|HSPB1 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, neuronal, type 2F|autosomal dominant Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth neuronal type 2F|CMT2F|Charcot-Marie-Tooth neuropathy, type 2F|CMT 2F|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1|Charcot Marie Tooth disease type 2F|Charcot-Marie-Tooth neuropathy type 2F ordo_disease|gard_rare MONDO:0011686 DNA ligase IV deficiency biolink:Disease mondo MESH:C564694|SCTID:724177005|DOID:0060021|NCIT:C122657|UMLS:C1847827|OMIM:606593|Orphanet:99812|ICD10:D81.1 LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). http://identifiers.org/omim/606593|DOID:0060021|SNOMEDCT:724177005|MESH:C564694|UMLS:C1847827|NCIT:C122657|ORPHA:99812 http://purl.obolibrary.org/obo/MONDO_0011686 DNA ligase IV deficiency|LIG4 syndrome|ligase 4 syndrome ordo_disease MONDO:0011689 dyslexia, susceptibility to, 6 biolink:Disease mondo OMIM:606616 http://identifiers.org/omim/606616 http://purl.obolibrary.org/obo/MONDO_0011689 dyslexia, susceptibility to, 6; DYX6|dyslexia, susceptibility to, 6|DYX6 predisposition MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 biolink:Disease mondo DOID:0110635|UMLS:C1847759|MESH:C564691|Orphanet:52428|ICD10:G71.2|OMIM:606612 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. http://identifiers.org/omim/606612|MESH:C564691|DOID:0110635|ORPHA:52428|UMLS:C1847759 http://purl.obolibrary.org/obo/MONDO_0011688 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; MDDGB5|MDC1C|muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5|FKRP-related congenital muscular dystrophy|muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5|muscular dystrophy, congenital, 1C|muscular dystrophy, congenital, FKRP-related|congenital muscular dystrophy 1C|muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5; MDDGB5|MDDGB5 MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 biolink:Disease mondo DOID:0080251|OMIM:617756 http://identifiers.org/omim/617756|DOID:0080251 http://purl.obolibrary.org/obo/MONDO_0033015 erythrokeratodermia variabilis ET progressiva 5; EKVP5|EKVP5 MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 biolink:Disease mondo UMLS:C4479619|OMIM:617525|DOID:0080249 http://identifiers.org/omim/617525|DOID:0080249|UMLS:C4479619 http://purl.obolibrary.org/obo/MONDO_0033013 erythrokeratodermia variabilis ET progressiva 3; EKVP3|EKVP3 MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 biolink:Disease mondo DOID:0080250|OMIM:617526|UMLS:C4479620 http://identifiers.org/omim/617526|DOID:0080250|UMLS:C4479620 http://purl.obolibrary.org/obo/MONDO_0033014 erythrokeratodermia variabilis ET progressiva 4; EKVP4|EKVP4 MONDO:0011681 episodic ataxia type 4 biolink:Disease mondo OMIM:606552|Orphanet:79136|ICD10:G11.8|MESH:C564698|SCTID:718754008|DOID:0050992|UMLS:C1847843 Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia. SNOMEDCT:718754008|UMLS:C1847843|ORPHA:79136|http://identifiers.org/omim/606552|DOID:0050992|MESH:C564698 http://purl.obolibrary.org/obo/MONDO_0011681 periodic vestibulocerebellar ataxia|episodic ataxia, type 4|ataxia, periodic vestibulocerebellar|EA4|episodic ataxia, type 4; EA4|PATX ordo_disease MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 biolink:Disease mondo UMLS:C4479618|OMIM:617524|DOID:0080248 http://identifiers.org/omim/617524|DOID:0080248|UMLS:C4479618 http://purl.obolibrary.org/obo/MONDO_0033012 erythrokeratodermia variabilis ET progressiva 2; EKVP2|EKVP2 MONDO:0011680 autosomal recessive congenital ichthyosis 3 biolink:Disease mondo OMIM:606545|ICD10:Q80.2|DOID:0060711 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene. DOID:0060711|http://identifiers.org/omim/606545 http://purl.obolibrary.org/obo/MONDO_0011680 collodion baby, self-healing|ichthyosis, lamellar, 5, formerly|ichthyosis, congenital, autosomal recessive 3|autosomal recessive congenital ichthyosis type 3|ichthyosis, lamellar, 5|lamellar ichthyosis 5|ARCI3|ichthyosis, congenital, autosomal recessive type 3|ichthyosis, congenital, autosomal recessive 3; ARCI3 MONDO:0023650 littoral cell angioma of the spleen biolink:Disease mondo GARD:0009714|UMLS:C1627365|MESH:C537031|SCTID:418040002 Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies. UMLS:C1627365|MESH:C537031|SNOMEDCT:418040002 http://purl.obolibrary.org/obo/MONDO_0023650 littoral cell angioma gard_rare HGNC:24858 MFF biolink:OntologyClass mondo http://identifiers.org/hgnc/24858 MONDO:0008019 mullerian aplasia and hyperandrogenism biolink:Disease mondo MESH:C567186|ICD10:Q51.8|NCIT:C120376|OMIM:158330|UMLS:C2675014|Orphanet:247768 Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina. http://identifiers.org/omim/158330|ORPHA:247768|MESH:C567186|UMLS:C2675014|NCIT:C120376 http://purl.obolibrary.org/obo/MONDO_0008019 mullerian aplasia and hyperandrogenism|Müllerian aplasia and hyperandrogenism|Mullerian duct failure and hyperandrogenism|WNT4 deficiency|Müllerian duct failure and hyperandrogenism ordo_malformation_syndrome MONDO:0008017 hereditary mucoepithelial dysplasia biolink:Disease mondo SCTID:403442005|OMIM:158310|Orphanet:1839|ICD9:478.79|GARD:0005427|MESH:C536476 Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition. SNOMEDCT:403442005|ORPHA:1839|MESH:C536476|http://identifiers.org/omim/158310 http://purl.obolibrary.org/obo/MONDO_0008017 Urban-Schosser-Spohn syndrome|mucoepithelial dysplasia, hereditary|Hmd ordo_malformation_syndrome|gard_rare MONDO:0011669 hypotonia-cystinuria syndrome biolink:Disease mondo MESH:C564710|ICD10:E72.0|OMIM:606407|Orphanet:163690|SCTID:721173005|DOID:0060858|EFO:0007550 Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. http://identifiers.org/omim/606407|ORPHA:163690|MESH:C564710|DOID:0060858|SNOMEDCT:721173005 http://purl.obolibrary.org/obo/MONDO_0011669 homozygous 2P16 deletion syndrome, formerly|homozygous 2P16 deletion syndrome|cystinuria with mitochondrial disease|hypotonia-cystinuria syndrome|homozygous 2P21 deletion syndrome|HCS ordo_disease MONDO:0011668 maturity-onset diabetes of the young type 6 biolink:Disease mondo SCTID:609573005|GARD:0010660|MESH:C565231|DOID:0111104|UMLS:C1853371|NCIT:C129745|OMIM:606394 Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. NCIT:C129745|DOID:0111104|MESH:C565231|http://identifiers.org/omim/606394|UMLS:C1853371|SNOMEDCT:609573005 http://purl.obolibrary.org/obo/MONDO_0011668 NEUROD1 maturity-onset diabetes of the young (disease)|diabetes mellitus MODY type 6|MODY, type 6|neurogenic differentiation Factor 1-associated monogenic diabetes|type 6 maturity-onset diabetes of the young|maturity onset diabetes of the Young, type 6|MODY type 6|NEUROD1-associated monogenic diabetes|maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1|maturity-onset diabetes of the young, type 6; MODY6|maturity-onset diabetes of the young, type 6|MODY6|MODY NEUROD1 related gard_rare MONDO:0008018 Muir-Torre syndrome biolink:Disease mondo MESH:D055653|GARD:0006821|ICD10:L72.8|NCIT:C84905|SCTID:403824007|Orphanet:587|OMIM:158320|UMLS:C1321489|MedDRA:10063042|DOID:0050465 Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma. NCIT:C84905|UMLS:C1321489|MESH:D055653|MEDDRA:10063042|DOID:0050465|ORPHA:587|SNOMEDCT:403824007|http://identifiers.org/omim/158320 http://purl.obolibrary.org/obo/MONDO_0008018 cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas|MRTES|cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas|multiple keratoacanthoma, Muir-Torre type|MUIR-Torre syndrome; MRTES|Muir-Torre syndrome ordo_clinical_subtype MONDO:0008015 motion sickness biolink:Disease mondo UMLS:C0026603|EFO:0006928|ICD10:T75.3|DOID:2951|OMIM:158280|ICD9:994.6|MESH:D009041|COHD:30284 A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting. MESH:D009041|UMLS:C0026603|NCIT:C34824|http://identifiers.org/omim/158280|DOID:2951 http://purl.obolibrary.org/obo/MONDO_0008015 motion sickness|travel sickness MONDO:0045008 cholesterol metabolism disease biolink:Disease mondo UMLS:C0342877|SCTID:123963007 A disease that has its basis in the disruption of cholesterol metabolic process. UMLS:C0342877|SNOMEDCT:123963007 http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolic process disease|cholesterol metabolism disease|disorder of cholesterol metabolism|disorder of cholesterol metabolic process|disorder of cholesterol metabolic process MONDO:0008016 trismus-pseudocamptodactyly syndrome biolink:Disease mondo OMIM:158300|Orphanet:3377|SCTID:8757006|MESH:C535857|ICD10:Q68.8|GARD:0002621|ICD9:759.89|UMLS:C0265226 ORPHA:3377|UMLS:C0265226|SNOMEDCT:8757006|MESH:C535857|http://identifiers.org/omim/158300 http://purl.obolibrary.org/obo/MONDO_0008016 trismus-pseudocamptodactyly syndrome|Hecht-Beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|DA7|distal arthrogryposis type 7|Dutch-Kentucky syndrome|arthrogryposis, distal, type 7; DA7|Hecht syndrome|arthrogryposis, distal, type 7|arthrogryposis distal type 7 ordo_malformation_syndrome MONDO:0008013 chromosome 9p deletion syndrome biolink:Disease mondo ICD10:Q93.5|OMIM:158170|DOID:0060732|Orphanet:261112|GARD:0003773|ICD9:758.39|SCTID:62599000|MESH:C538024 Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. ORPHA:261112|MESH:C538024|UMLS:C0795830|UMLS:C0265425|http://identifiers.org/omim/158170|DOID:0060732|SNOMEDCT:62599000 http://purl.obolibrary.org/obo/MONDO_0008013 chromosome 9p deletion syndrome|9p- syndrome|9p syndrome|9p deletion syndrome|deletion 9p|monosomy 9P syndrome|9p deletion|monosomy 9p|9p monosomy|monosomy 9p syndrome|Alfi syndrome|chromosome 9p deletion|partial monosomy 9p|monosomy type 9p ordo_malformation_syndrome MONDO:0045002 vertebral disease biolink:Disease mondo UMLS:C2316319|SCTID:430886005 A disease or disorder that involves the vertebra. SNOMEDCT:430886005|UMLS:C2316319 http://purl.obolibrary.org/obo/MONDO_0045002 vertebra disease or disorder|vertebra disease|disease of vertebra|disease or disorder of vertebra|disorder of vertebra|disorder of vertebra MONDO:0060631 Alkuraya-Kucinskas syndrome biolink:Disease mondo UMLS:CN737163|OMIM:617822 UMLS:CN737163|http://identifiers.org/omim/617822 http://purl.obolibrary.org/obo/MONDO_0060631 Alkuraya-Kucinskas syndrome; ALKKUCS|ALKKUCS MONDO:0008014 nondisjunction biolink:Disease mondo OMIM:158250|UMLS:C1834741 UMLS:C1834741|http://identifiers.org/omim/158250 http://purl.obolibrary.org/obo/MONDO_0008014 mosaicism, chromosomal|nondisjunction|mixoploidy, familial MONDO:0045001 cardiac ventricle disease biolink:Disease mondo SCTID:415991003|UMLS:C1562298 A disease or disorder that involves the cardiac ventricle. UMLS:C1562298|SNOMEDCT:415991003 http://purl.obolibrary.org/obo/MONDO_0045001 disease or disorder of cardiac ventricle|cardiac ventricle disease or disorder|cardiac ventricle disease|disease of cardiac ventricle|disorder of cardiac ventricle|disorder of cardiac ventricle MONDO:0045004 skeletal ligament disease biolink:Disease mondo A disease or disorder that involves the skeletal ligament. http://purl.obolibrary.org/obo/MONDO_0045004 disease or disorder of skeletal ligament|skeletal ligament disease or disorder|disease of skeletal ligament|disorder of skeletal ligament|disorder of skeletal ligament MONDO:0008011 antigen defined by monoclonal antibody T87 biolink:Disease mondo OMIM:158040 http://identifiers.org/omim/158040 http://purl.obolibrary.org/obo/MONDO_0008011 antigen defined by monoclonal antibody T87|Msk2 MONDO:0045003 scrotal disease biolink:Disease mondo SCTID:49701002|UMLS:C0268919 A disease or disorder that involves the scrotum. SNOMEDCT:49701002|UMLS:C0268919 http://purl.obolibrary.org/obo/MONDO_0045003 scrotum disease|disease of scrotum|disorder of scrotum|disorder of scrotum|disease or disorder of scrotum|scrotum disease or disorder MONDO:0008012 Monophalangy of great toe biolink:Disease mondo UMLS:C1834753|OMIM:158100|MESH:C563570 UMLS:C1834753|http://identifiers.org/omim/158100|MESH:C563570 http://purl.obolibrary.org/obo/MONDO_0008012 Monophalangy of great toe GO:1904058 positive regulation of sensory perception of pain biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of sensory perception of pain. http://purl.obolibrary.org/obo/GO_1904058 up-regulation of sensory perception of pain|activation of sensory perception of pain|activation of perception of physiological pain|upregulation of perception of physiological pain|up-regulation of nociception|upregulation of sensory perception of pain|up regulation of nociception|positive regulation of perception of physiological pain|positive regulation of nociception|activation of nociception|up regulation of perception of physiological pain|up-regulation of perception of physiological pain|up regulation of sensory perception of pain|upregulation of nociception MONDO:0011672 persistent polyclonal B-cell lymphocytosis biolink:Disease mondo Orphanet:300324|MESH:C564707|UMLS:C1847973|SCTID:763864008|ICD10:I72.8|OMIM:606445 Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. MESH:C564707|ORPHA:300324|UMLS:C1847973|SNOMEDCT:763864008|http://identifiers.org/omim/606445 http://purl.obolibrary.org/obo/MONDO_0011672 persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes|PPBL|persistent polyclonal B-cell lymphocytosis|persistent polyclonal B-cell lymphocytosis; PPBL ordo_disease MONDO:0011671 Huntington disease-like 2 biolink:Disease mondo MESH:C564708|ICD10:G10|UMLS:C1847987|Orphanet:98934|OMIM:606438|DOID:0090104|SCTID:721228006 Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities. MESH:C564708|UMLS:C1847987|SNOMEDCT:721228006|http://identifiers.org/omim/606438|ORPHA:98934|DOID:0090104 http://purl.obolibrary.org/obo/MONDO_0011671 Huntington disease-like 2|Huntington's disease-like 2|HDL2|Huntington disease-like 2; HDL2|Huntington disease-like type 2 ordo_disease HGNC:12874 ZIC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/12874 MONDO:0008010 antigen defined by monoclonal antibody Aj9 biolink:Disease mondo OMIM:158030 http://identifiers.org/omim/158030 http://purl.obolibrary.org/obo/MONDO_0008010 antigen defined by monoclonal antibody Aj9|Msk1 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate b biolink:Disease mondo Orphanet:100044|UMLS:CN197338|DOID:0110197|SCTID:765745007|OMIM:606482|ICD10:G60.0|GARD:0012438 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. DOID:0110197|http://identifiers.org/omim/606482|UMLS:CN197338|ORPHA:100044|SNOMEDCT:765745007 http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease, dominant intermediate B|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M|CMTDIB|Charcot-Marie-Tooth neuropathy, axonal, type 2M|Charcot-Marie-Tooth disease, dominant intermediate B; CMTDIB|Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia|Charcot-Marie-Tooth neuropathy, dominant Intermediate B|autosomal dominant intermediate Charcot-Marie-Tooth disease type B|Charcot-Marie-Tooth disease dominant intermediate type B|Charcot-Marie-Tooth disease, dominant Intermediate type B|DI-CMTB|CMTDI1|DNM2-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease, axonal, type 2M|Cmtdi1|Di-CMTB|Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia|DNM2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in DNM2|Charcot-Marie-Tooth neuropathy dominant intermediate B ordo_disease HGNC:12873 ZIC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/12873 MONDO:0011673 autosomal dominant nonsyndromic deafness 30 biolink:Disease mondo UMLS:C1847972|MESH:C564706|ICD10:H90.3|DOID:0110560|OMIM:606451 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26. http://identifiers.org/omim/606451|DOID:0110560|MESH:C564706|UMLS:C1847972 http://purl.obolibrary.org/obo/MONDO_0011673 autosomal dominant nonsyndromic deafness type 30|autosomal dominant deafness 30|DFNA30|deafness, autosomal dominant 30|deafness, autosomal dominant 30; DFNA30 HGNC:12872 ZIC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12872 MONDO:0011676 PHACE syndrome biolink:Disease mondo MedDRA:10068032|UMLS:C1847874|GARD:0008338|OMIM:606519|Orphanet:42775|ICD10:Q28.8 PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery. http://identifiers.org/omim/606519|ORPHA:42775|MEDDRA:10068032|UMLS:C1847874|UMLS:C2242617 http://purl.obolibrary.org/obo/MONDO_0011676 Phaces association|Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities|aortic aneurysm, giant congenital|pascual-Castroviejo type II syndrome|P-CIIS|pascual-Castroviejo syndrome type 2|PHACE association ordo_malformation_syndrome GO:1904064 positive regulation of cation transmembrane transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cation transmembrane transport. http://purl.obolibrary.org/obo/GO_1904064 upregulation of cation transmembrane transport|up regulation of cation transmembrane transport|up-regulation of cation transmembrane transport|activation of cation transmembrane transport MONDO:0011675 Charcot-Marie-Tooth disease dominant intermediate a biolink:Disease mondo GARD:0012437|DOID:0110202|OMIM:606483|MESH:C564702|Orphanet:100043|ICD10:G60.0|UMLS:C1847896|SCTID:765744006 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. http://identifiers.org/omim/606483|DOID:0110202|SNOMEDCT:765744006|MESH:C564702|ORPHA:100043|UMLS:C1847896 http://purl.obolibrary.org/obo/MONDO_0011675 Charcot-Marie-Tooth disease dominant intermediate type A|Charcot-Marie-Tooth disease, dominant intermediate A|Charcot-Marie-Tooth neuropathy dominant intermediate A|Charcot-Marie-Tooth neuropathy, dominant Intermediate a|Charcot-Marie-Tooth disease, dominant intermediate A; CMTDIA|CMTDIA|Di-Cmta|autosomal dominant intermediate Charcot-Marie-Tooth disease type A|DI-CMTA ordo_disease GO:1904063 negative regulation of cation transmembrane transport biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cation transmembrane transport. http://purl.obolibrary.org/obo/GO_1904063 inhibition of cation transmembrane transport|down-regulation of cation transmembrane transport|downregulation of cation transmembrane transport|down regulation of cation transmembrane transport MONDO:0011678 homozygous 11P15-p14 deletion syndrome biolink:Disease mondo MESH:C564701|UMLS:C1847866|OMIM:606528 http://identifiers.org/omim/606528|MESH:C564701|UMLS:C1847866 http://purl.obolibrary.org/obo/MONDO_0011678 homozygous 11P15-p14 deletion syndrome|hyperinsulinism, infantile, with enteropathy and deafness HGNC:12877 ZMPSTE24 biolink:OntologyClass mondo http://identifiers.org/hgnc/12877 GO:1904062 regulation of cation transmembrane transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cation transmembrane transport. http://purl.obolibrary.org/obo/GO_1904062 MONDO:0011677 Megarbane syndrome biolink:Disease mondo OMIM:606527|UMLS:C1847871|GARD:0009979|MESH:C536145 http://identifiers.org/omim/606527|UMLS:C1847871|MESH:C536145 http://purl.obolibrary.org/obo/MONDO_0011677 short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation|Megarbane syndrome gard_rare UBERON:0019293 white matter of pontine tegmentum biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019293 white matter of pontile tegmentum|white substance of pontile tegmentum|substantia alba tegmenti pontis|pontine white matter tracts|predominantly white regional part of pontine tegmentum UBERON:0019294 commissure of telencephalon biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019294 telencephalic commissures UBERON:0019291 white matter of metencephalon biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019291 UBERON:0019292 white matter of pons biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019292 MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency biolink:Disease mondo GARD:0008507|OMIM:606408|Orphanet:230839|UMLS:C1848029|MESH:C536193|ICD10:Q79.6 UMLS:C1848029|MESH:C536193|ORPHA:230839|http://identifiers.org/omim/606408 http://purl.obolibrary.org/obo/MONDO_0011670 EDS due to Tnx deficiency|Ehlers-Danlos syndrome, classic-like|EDS due to TNX deficiency|EDSCLL|Ehlers-Danlos syndrome due to tenascin-X deficiency|Ehlers-Danlos-like syndrome due to tenascin-X deficiency|Ehlers-Danlos syndrome, classic-like type|classical-like Ehlers-Danlos syndrome|classical-like EDS|clEDS|Ehlers-Danlos syndrome, classic-like; EDSCLL|Tnx deficiency|EDS, classic-like type|TNX deficiency ordo_disease NCBITaxon:803 Bartonella quintana organism taxon mondo GC_ID:11|PMID:8240958 http://purl.obolibrary.org/obo/NCBITaxon_803 Rickettsia quintana|Rickettsia pediculi|Rickettsia weigli|Rickettsia wolhynica|Burnetia (Rocha-limae) wolhynica|Wolhynia qintanae|Rochalimaea quintana MONDO:0045011 keratinization disease biolink:Disease mondo UMLS:C0475811|SCTID:277905003 SNOMEDCT:277905003|UMLS:C0475811 http://purl.obolibrary.org/obo/MONDO_0045011 keratinization disease|disorder of keratinization HGNC:24862 MOGS biolink:OntologyClass mondo http://identifiers.org/hgnc/24862 MONDO:0045010 glycoprotein metabolism disease biolink:Disease mondo SCTID:238045003|UMLS:C0342844 A disease that has its basis in the disruption of glycoprotein metabolic process. SNOMEDCT:238045003|UMLS:C0342844 http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolic process disease|glycoprotein metabolism disease|disorder of glycoprotein metabolism|disorder of glycoprotein metabolic process|disorder of glycoprotein metabolic process MONDO:0023642 Weber syndrome biolink:Disease mondo UMLS:C0455717|GARD:0008676|ICD9:344.89|SCTID:24654003 SNOMEDCT:24654003|UMLS:C0455717 http://purl.obolibrary.org/obo/MONDO_0023642 Weber-Gubler syndrome|Weber-Gubler syndrome|Weber syndrome|Midbrain stroke syndromes|Weber Syndrome gard_rare MONDO:0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive biolink:Disease mondo UMLS:CN737161|OMIM:617820 http://identifiers.org/omim/617820|UMLS:CN737161 http://purl.obolibrary.org/obo/MONDO_0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; NDHMSR|NDHMSR MONDO:0023644 lip and oral cavity carcinoma biolink:Disease mondo NCIT:C9315|GARD:0009360|UMLS:C0220641|GARD:0009342 A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas. NCIT:C9315|UMLS:C0220641 http://purl.obolibrary.org/obo/MONDO_0023644 oral cancer|lip and oral cavity carcinoma|lip and oral cavity cancer|oral carcinoma gard_rare MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 biolink:Disease mondo Orphanet:529665|UMLS:C4540520|OMIM:617810 UMLS:C4540520|ORPHA:529665|http://identifiers.org/omim/617810 http://purl.obolibrary.org/obo/MONDO_0060627 developmental delay, epilepsy, cerebellar atrophy, and osteopenia|glycosylphosphatidylinositol biosynthesis defect 15; GPIBD15|GPIBD15 ordo_malformation_syndrome HGNC:24866 CEP104 biolink:OntologyClass mondo http://identifiers.org/hgnc/24866 MONDO:0023646 lipodermatosclerosis biolink:Disease mondo GARD:0009671|MESH:C537026|UMLS:C0406500|SCTID:410016009 Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy. MESH:C537026|UMLS:C0406500|SNOMEDCT:410016009 http://purl.obolibrary.org/obo/MONDO_0023646 hypodermitis sclerodermaformis|acute lipodermatosclerosis|sclerosing panniculitis gard_rare MONDO:0045017 cholesterol biosynthetic process disease biolink:Disease mondo SCTID:238036004|UMLS:C0342829 A disease that has its basis in the disruption of cholesterol biosynthetic process. SNOMEDCT:238036004|UMLS:C0342829 http://purl.obolibrary.org/obo/MONDO_0045017 disorder of cholesterol synthesis|disorder of cholesterol biosynthetic process|disorder of cholesterol biosynthetic process|cholesterol synthesis disease MONDO:0008028 muscular dystrophy, Barnes type biolink:Disease mondo MESH:C563558|OMIM:158800|UMLS:C1834688 http://identifiers.org/omim/158800|UMLS:C1834688|MESH:C563558 http://purl.obolibrary.org/obo/MONDO_0008028 muscular dystrophy, Barnes type MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 biolink:Disease mondo MESH:C565238|UMLS:C1853445|DOID:0060370|OMIM:606324 Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene. MESH:C565238|http://identifiers.org/omim/606324|DOID:0060370|UMLS:C1853445 http://purl.obolibrary.org/obo/MONDO_0011658 Parkinson disease caused by mutation in PARK7|PARK7|autosomal recessive early-onset Parkinson's disease 7|PARK7 Parkinson disease|autosomal recessive early-onset Parkinson disease type 7|Parkinson disease 7, autosomal recessive early-onset; PARK7|Parkinson disease 7, autosomal recessive early-onset MONDO:0045016 cholesterol catabolic process disease biolink:Disease mondo SCTID:238032002|UMLS:C0342825 A disease that has its basis in the disruption of cholesterol catabolic process. SNOMEDCT:238032002|UMLS:C0342825 http://purl.obolibrary.org/obo/MONDO_0045016 disorder of cholesterol catabolism|cholesterol catabolism disease|disorder of cholesterol catabolic process|disorder of cholesterol catabolic process MONDO:0011657 autosomal dominant nonsyndromic deafness 24 biolink:Disease mondo GARD:0009166|MESH:C565239|OMIM:606282|UMLS:C1853451|DOID:0110554|ICD10:H90.3 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter. MESH:C565239|http://identifiers.org/omim/606282|DOID:0110554|UMLS:C1853451 http://purl.obolibrary.org/obo/MONDO_0011657 DFNA 24|deafness, autosomal dominant 24; DFNA24|deafness, autosomal dominant 24|DFNA24|autosomal dominant deafness 24|deafness, autosomal dominant nonsyndromic sensorineural 24|autosomal dominant nonsyndromic deafness type 24 MONDO:0008029 Bethlem myopathy biolink:Disease mondo ICD10:G71.0|OMIMPS:158810|GARD:0000873|NCIT:C126688|MESH:C535436|Orphanet:610|UMLS:C1834674|SCTID:718572004|DOID:0050663 A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles. UMLS:C1834674|DOID:0050663|ORPHA:610|MESH:C535436|NCIT:C126688|SNOMEDCT:718572004 http://purl.obolibrary.org/obo/MONDO_0008029 BTHLM1|benign autosomal dominant myopathy|Bethlem myopathy 1|Bethlem myopathy type 1|benign congenital muscular dystrophy ordo_disease|prototype_pattern MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter biolink:Disease mondo OMIM:617807|UMLS:C4540498 http://identifiers.org/omim/617807|UMLS:C4540498 http://purl.obolibrary.org/obo/MONDO_0060624 neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter; NDAGSCW|NDAGSCW MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures biolink:Disease mondo MESH:C563560|ICD10:G12.1|OMIM:158600|UMLS:C1834690|Orphanet:209341 UMLS:C1834690|ORPHA:209341|MESH:C563560|http://identifiers.org/omim/158600 http://purl.obolibrary.org/obo/MONDO_0008026 Kugelberg-Welander syndrome, autosomal dominant|spinal muscular atrophy, juvenile, proximal, autosomal dominant|spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant|spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant; SMALED1|SMALED1|spinal muscular atrophy, childhood, proximal, autosomal dominant|Sma-led|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures ordo_clinical_subtype MONDO:0045019 lactation disease biolink:Disease mondo SCTID:35046003|UMLS:C0022927 UMLS:C0022927|SNOMEDCT:35046003 http://purl.obolibrary.org/obo/MONDO_0045019 lactation disease|disorder of lactation MONDO:0008027 muscular atrophy, malignant neurogenic biolink:Disease mondo UMLS:C1834689|MESH:C563559|OMIM:158650 UMLS:C1834689|MESH:C563559|http://identifiers.org/omim/158650 http://purl.obolibrary.org/obo/MONDO_0008027 muscular atrophy, malignant neurogenic MONDO:0011659 HTX3 biolink:Disease mondo MESH:C565237|OMIM:606325|UMLS:C1853444 MESH:C565237|http://identifiers.org/omim/606325|UMLS:C1853444 http://purl.obolibrary.org/obo/MONDO_0011659 HTX3|heterotaxy, visceral, 3, autosomal; HTX3|heterotaxy, visceral, 3, autosomal NCBITaxon:266068 Rickettsia sibirica subgroup organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_266068 MONDO:0045018 creatine biosynthetic process disease biolink:Disease mondo UMLS:C0574079|SCTID:297226004 A disease that has its basis in the disruption of creatine biosynthetic process. SNOMEDCT:297226004|UMLS:C0574079 http://purl.obolibrary.org/obo/MONDO_0045018 creatine synthesis disease|disorder of creatine biosynthetic process|disorder of creatine biosynthetic process|disorder of creatine synthesis MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language biolink:Disease mondo OMIM:617804|UMLS:C4540496 http://identifiers.org/omim/617804|UMLS:C4540496 http://purl.obolibrary.org/obo/MONDO_0060622 NEDMIAL|neurodevelopmental disorder with severe motor impairment and absent language; NEDMIAL MONDO:0045013 disease of extraembryonic membrane biolink:Disease mondo SCTID:609522002|UMLS:C3662139 A disease or disorder that involves the extraembryonic membrane. SNOMEDCT:609522002|UMLS:C3662139 http://purl.obolibrary.org/obo/MONDO_0045013 disorder of extraembryonic membrane|disease or disorder of extraembryonic membrane|extraembryonic membrane disease or disorder|extraembryonic membrane disease|disease of extraembryonic membrane|disorder of extraembryonic membrane MONDO:0008024 neuronopathy, distal hereditary motor, type 7A biolink:Disease mondo UMLS:C1834703|MESH:C563562|OMIM:158580 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene. UMLS:C1834703|MESH:C563562|http://identifiers.org/omim/158580 http://purl.obolibrary.org/obo/MONDO_0008024 HMN7A|neuronopathy, distal hereditary motor, type VIIA|spinal muscular atrophy, distal, with vocal cord paralysis|Harper-Young myopathy|neuronopathy, distal hereditary motor, type VIIA; HMN7A|SLC5A7 neuronopathy, distal hereditary motor|HMN 7A|Dhmn7A|Dhmnvp|neuropathy, distal hereditary motor, type 7A|neuronopathy, distal hereditary motor caused by mutation in SLC5A7 MONDO:0060621 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy biolink:Disease mondo OMIM:617802|UMLS:C4540493 UMLS:C4540493|http://identifiers.org/omim/617802 http://purl.obolibrary.org/obo/MONDO_0060621 NDMSCA|neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; NDMSCA MONDO:0045012 steroid metabolism disease biolink:Disease mondo UMLS:C0268283|SCTID:28710006 A disease that has its basis in the disruption of steroid metabolic process. UMLS:C0268283|SNOMEDCT:28710006 http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease|disorder of steroid metabolism|disorder of steroid metabolic process|disorder of steroid metabolic process|steroid metabolic process disease MONDO:0008025 neuronopathy, distal hereditary motor, type 2A biolink:Disease mondo UMLS:C1834692|MESH:C563561|OMIM:158590 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. UMLS:C1834692|MESH:C563561|http://identifiers.org/omim/158590 http://purl.obolibrary.org/obo/MONDO_0008025 neuronopathy, distal hereditary motor caused by mutation in HSPB8|spinal muscular atrophy, distal, adult, autosomal dominant, 2A|HMN 2A|neuronopathy, distal hereditary motor, type IIA; HMN2A|neuropathy, distal hereditary motor, type 2A|HMN2A|HSPB8 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor, type IIA|Charcot-Marie-Tooth disease, spinal, 2A HGNC:24861 G6PC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/24861 MONDO:0008022 muscle cramps, familial biolink:Disease mondo OMIM:158400|MESH:C563563|UMLS:C1834708 UMLS:C1834708|MESH:C563563|http://identifiers.org/omim/158400 http://purl.obolibrary.org/obo/MONDO_0008022 muscle cramps, familial MONDO:0045015 carbohydrate transport disease biolink:Disease mondo SCTID:54905006|UMLS:C0268173 A disease that has its basis in the disruption of carbohydrate transport. UMLS:C0268173|SNOMEDCT:54905006 http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease|disorder of carbohydrate transport|disorder of carbohydrate transport MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome biolink:Disease mondo GARD:0002417|ICD9:728.2|OMIM:158500|Orphanet:2579|SCTID:237611007 This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. MESH:C538193|ORPHA:2579|UMLS:C0342281|http://identifiers.org/omim/158500|UMLS:C2931765|SNOMEDCT:237611007 http://purl.obolibrary.org/obo/MONDO_0008023 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus|Furukawa-Takagi-Nakao syndrome|muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus gard_rare|ordo_disease MONDO:0045014 tetrahydrobiopterin metabolic process disease biolink:Disease mondo UMLS:C0342676|SCTID:237913008 A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process. SNOMEDCT:237913008|UMLS:C0342676 http://purl.obolibrary.org/obo/MONDO_0045014 disorder of tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism disease|disorder of tetrahydrobiopterin metabolic process|disorder of tetrahydrobiopterin metabolism MONDO:0011661 inflammatory bowel disease 5 biolink:Disease mondo MESH:C565234|DOID:0110889|UMLS:C1853438|OMIM:606348 An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31. http://identifiers.org/omim/606348|DOID:0110889|UMLS:C1853438|MESH:C565234 http://purl.obolibrary.org/obo/MONDO_0011661 IBD5|inflammatory bowel disease type 5|inflammatory bowel disease 5; IBD5|inflammatory bowel disease 5 MONDO:0008020 multiple exostoses with spastic tetraparesis biolink:Disease mondo GARD:0000291|MESH:C563566|OMIM:158345|UMLS:C1834724 MESH:C563566|http://identifiers.org/omim/158345|UMLS:C1834724 http://purl.obolibrary.org/obo/MONDO_0008020 spasticity multiple exostoses|multiple exostoses with spastic tetraparesis|Hamann Zanki schimrigk syndrome MONDO:0011660 autosomal dominant nonsyndromic deafness 22 biolink:Disease mondo OMIM:606346|DOID:0110552|ICD10:H90.3|GARD:0009167|MESH:C538197 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. http://identifiers.org/omim/606346|DOID:0110552|MESH:C538197 http://purl.obolibrary.org/obo/MONDO_0011660 deafness, autosomal dominant type 22|DFNA 22|autosomal dominant nonsyndromic deafness caused by mutation in MYO6|autosomal dominant deafness 22|MYO6 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant nonsyndromic sensorineural 22|deafness, autosomal dominant 22|autosomal dominant nonsyndromic deafness type 22|deafness, autosomal dominant 22, with hypertrophic cardiomyopathy|deafness, autosomal dominant 22; DFNA22|DFNA22 MONDO:0008021 Cowden syndrome 1 biolink:Disease mondo UMLS:CN072330|OMIM:158350 Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene. UMLS:CN072330|http://identifiers.org/omim/158350 http://purl.obolibrary.org/obo/MONDO_0008021 Proteus-like syndrome|Lhermitte-Duclos disease|Cowden syndrome 1; CWS1|Cowden syndrome type 1|PTEN Cowden disease|cerebelloparenchymal disorder 6|Cowden syndrome 1|dysplastic gangliocytoma of the cerebellum|multiple hamartoma syndrome|Cowden disease caused by mutation in PTEN|CS|cerebellar granule cell Hypertrophy and megalencephaly|CWS1 MONDO:0011663 juvenile primary lateral sclerosis biolink:Disease mondo SCTID:717964007|UMLS:C1853396|OMIM:606353|ICD10:G12.2|GARD:0004485|MESH:C536416|Orphanet:247604 Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. MESH:C536416|http://identifiers.org/omim/606353|UMLS:C1853396|SNOMEDCT:717964007|ORPHA:247604 http://purl.obolibrary.org/obo/MONDO_0011663 JPLS|juvenile PLS|primary lateral sclerosis, juvenile|primary lateral sclerosis, juvenile; PLSJ|Pls, juvenile|PLS juvenile|PLSJ gard_rare|ordo_disease MONDO:0011662 pathological gambling biolink:Disease mondo SCTID:18085000|OMIM:606349|ICD10:F63.0|ICD9:312.31|EFO:1001926|NCIT:C94335|DOID:12399|MESH:D005715|COHD:436959 A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity. http://identifiers.org/omim/606349|DOID:12399|MESH:D005715|SNOMEDCT:18085000|NCIT:C94335 http://purl.obolibrary.org/obo/MONDO_0011662 compulsive gambling|pathological gambling|gambling, pathologic MONDO:0011665 obsolete Lennox-Gastaut syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011665 MONDO:0011664 immunodeficiency due to CD25 deficiency biolink:Disease mondo OMIM:606367|MESH:C565232|Orphanet:169100|ICD10:D81.2|UMLS:C1853392 MESH:C565232|http://identifiers.org/omim/606367|ORPHA:169100|UMLS:C1853392 http://purl.obolibrary.org/obo/MONDO_0011664 IMD41|IL2RA deficiency|Interleukin 2 receptor, alpha, deficiency of|immunodeficiency 41 with lymphoproliferation and autoimmunity|immunodeficiency 41 with lymphoproliferation and autoimmunity; IMD41|Interleukin-2 receptor alpha chain deficiency|CD25 deficiency ordo_disease MONDO:0011667 maturity-onset diabetes of the young type 4 biolink:Disease mondo OMIM:606392|MESH:C563451|DOID:0111103|GARD:0010659|SCTID:609571007|NCIT:C129746 Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. NCIT:C129746|DOID:0111103|http://identifiers.org/omim/606392|MESH:C563451|SNOMEDCT:609571007 http://purl.obolibrary.org/obo/MONDO_0011667 MODY4|MODY, type 4|PDX1-associated monogenic diabetes|MODY insulin promoter factor-1 related|PDX1 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in PDX1|maturity onset diabetes of the Young, type 4|MODY type 4|maturity-onset diabetes of the young, type 4; MODY4|type 4 maturity-onset diabetes of the young|maturity-onset diabetes of the young, type 4|diabetes mellitus MODY type 4 gard_rare MONDO:0011666 obsolete maturity-onset diabetes of the young biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011666 NCBITaxon:815 Bacteroidaceae organism taxon mondo GC_ID:11|PMID:8300528 http://purl.obolibrary.org/obo/NCBITaxon_815 MONDO:0021053 carotid body paraganglioma biolink:Disease mondo ICDO:8692/1|GARD:0010598|UMLS:C0007279|NCIT:C2932 A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck. NCIT:C2932|UMLS:C0007279 http://purl.obolibrary.org/obo/MONDO_0021053 tumor of carotid body|tumor of the carotid body|carotid body chemodectoma|chemodectoma|carotid body tumor|carotid body paraganglioma|chemodectoma, undetermined|paraganglioma of carotid body|paraganglioma of carotid body|paraganglioma of the carotid body MONDO:0021052 parasympathetic paraganglioma biolink:Disease mondo ICDO:8682/1|UMLS:C0334416|NCIT:C4217 A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas. NCIT:C4217|UMLS:C0334416 http://purl.obolibrary.org/obo/MONDO_0021052 paraganglioma of parasympathetic nervous system|parasympathetic Extra-adrenal paraganglioma|parasympathetic nervous system paraganglioma|parasympathetic paraganglioma|parasympathetic Paraganglionic neoplasm NCBITaxon:813 Chlamydia trachomatis organism taxon mondo PMID:10192388|PMID:8102247|PMID:10319462|PMID:8347519|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_813 Rickettsia trachomatis|Chlamydozoon trachomatis|Rickettsia trachomae MONDO:0021051 obsolete hemophagocytic syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021051 MONDO:0021050 vaginal neoplasm biolink:Disease mondo EFO:1001447|ICD9:239.5|SCTID:126921000|NCIT:C3437|ONCOTREE:VULVA A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma. SNOMEDCT:126921000|NCIT:C3437 http://purl.obolibrary.org/obo/MONDO_0021050 tumor of vagina|neoplasm of the vagina|vagina neoplasm (disease)|vaginal tumor|vaginal neoplasm|neoplasm of vagina|vagina tumor|tumor of the vagina|vagina neoplasm NCBITaxon:816 Bacteroides organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_816 Ristella|Capsularis HP:0002617 Dilatation biolink:PhenotypicFeature mondo SNOMEDCT_US:85659009|MSH:D000783|UMLS:C0002940|UMLS:C4020848|SNOMEDCT_US:432119003|Fyler:2399 Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. http://purl.obolibrary.org/obo/HP_0002617 Aneurysms|Wider than typical opening or gap|Aneurysm|Aneurysmal dilatation|Aneurysmal disease MONDO:0021059 head or neck disease/disorder biolink:Disease mondo UMLS:C1333941|NCIT:C27571 Any disease or disorder affecting the head and/or neck region. UMLS:C1333941|NCIT:C27571 http://purl.obolibrary.org/obo/MONDO_0021059 head and neck disorder|disorder of craniocervical region|craniocervical region disease|disease or disorder of craniocervical region|head or neck disorder|disease of craniocervical region|craniocervical region disease or disorder|disorder of craniocervical region HP:0002615 Hypotension biolink:PhenotypicFeature mondo SNOMEDCT_US:45007003|MSH:D007022|UMLS:C0020649 Low Blood Pressure, vascular hypotension. http://purl.obolibrary.org/obo/HP_0002615 Low blood pressure|Arterial hypotension MONDO:0021058 neoplastic syndrome biolink:Disease mondo NCIT:C54705 A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. NCIT:C54705 http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome|cancer-related syndrome|tumor syndrome MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome biolink:Disease mondo UMLS:C1834232|OMIM:162240|MESH:C563522|GARD:0010543 MESH:C563522|http://identifiers.org/omim/162240|UMLS:C1834232 http://purl.obolibrary.org/obo/MONDO_0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome|duodenal carcinoid syndrome|Npdc syndrome MONDO:0021057 classic or attenuated familial adenomatous polyposis biolink:Disease mondo An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP. http://purl.obolibrary.org/obo/MONDO_0021057 classic or attenuated FAP MONDO:0021056 familial adenomatous polyposis 1 biolink:Disease mondo OMIM:175100 Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene. http://identifiers.org/omim/175100 http://purl.obolibrary.org/obo/MONDO_0021056 FAP1|Gardner syndrome|familial adenomatous polyposis, attenuated|APC attenuated familial adenomatous polyposis|familial adenomatous polyposis 1|polyposis, adenomatous intestinal|attenuated familial adenomatous polyposis caused by mutation in APC|brain tumor-polyposis syndrome 2|adenomatous polyposis coli, attenuated|familial adenomatous polyposis 1; FAP1|familial polyposis of the colon|adenomatous polyposis of the colon NCBITaxon:810 Chlamydia organism taxon mondo PMID:9103632|PMID:10319462|PMID:25618261|PMID:11211265|PMID:21048222|PMID:21048221|PMID:9103637|PMID:23620152|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydophila|Rickettsiaformis|Miyagawanella|Rakeia|"Prowazekia" Coles 1953|Bedsonia MONDO:0021055 classic familial adenomatous polyposis biolink:Disease mondo GARD:0006408|OMIMPS:175100|MedDRA:10056981|DOID:0050424|ICDO:8220/0|NCIT:C3339|ICD10:D12.6|UMLS:C0032580|SCTID:72900001|Orphanet:733|DC:0000707|UMLS:CN240755 Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. SNOMEDCT:72900001|MEDDRA:10056981|NCIT:C3339|UMLS:C0032580|DOID:0050424|MESH:D011125|ORPHA:733|UMLS:CN240755 http://purl.obolibrary.org/obo/MONDO_0021055 familial polyposis coli|classic FAP|FPC|familial adenomatous polyposis|familial polyposis|familial adenomatous polyposis syndrome|hereditary polyposis coli|FAP|hereditary adenomatous polyposis coli|adenomatous polyposis of the colon|colorectal adenomatous polyposis|familial adenomatous polyposis of the colon|familial adenomatous polyposis coli|adenomatous polyposis coli|polyposis coli|APC - adenomatous polyposis coli|familial multiple polyposis ordo_disease MONDO:0008077 obsolete neurofibromatosis, type 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0008077 MONDO:0008078 neurofibromatosis, familial spinal biolink:Disease mondo UMLS:C1834235|OMIM:162210|MESH:C563523 MESH:C563523|http://identifiers.org/omim/162210|UMLS:C1834235 http://purl.obolibrary.org/obo/MONDO_0008078 Fsnf|neurofibromatosis, familial spinal MONDO:0021054 bone sarcoma biolink:Disease mondo Orphanet:223727|ICD9:170.9|MedDRA:10006007|SCTID:448710000|UMLS:C1704327|NCIT:C9312 A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma. SNOMEDCT:448710000|MEDDRA:10006007|NCIT:C9312|UMLS:C1704327|ORPHA:223727 http://purl.obolibrary.org/obo/MONDO_0021054 sarcoma of bone|sarcoma of the bone|bone sarcoma|skeletal sarcoma|osseous sarcoma ordo_group_of_disorders HP:0002619 Varicose veins biolink:PhenotypicFeature mondo MSH:D014648|SNOMEDCT_US:12856003|SNOMEDCT_US:128060009|UMLS:C0042345|SNOMEDCT_US:399989005 Enlarged and tortuous veins. http://purl.obolibrary.org/obo/HP_0002619 NCBITaxon:27458 Chrysops organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_27458 deer flies MONDO:0008075 neurofibromatosis type 3 biolink:Disease mondo ICD10:Q85.0|OMIMPS:162091|NCIT:C6557|ICD9:237.73|GARD:0004768|ICDO:9560/1|UMLS:C1335929|Orphanet:93921|DOID:3204|ICD10:Q85.03 Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium. NCIT:C6557|ORPHA:93921|UMLS:C1335929|DOID:3204|MESH:C536641|UMLS:C0917817 http://purl.obolibrary.org/obo/MONDO_0008075 neurinoma|Schwannomatosis|neurilemmomatosis, congenital cutaneous|neurilemmomatosis congenital cutaneous|neurilemmomatosis|schwannomatosis|Neurinomatosis|NF3|congenital cutaneous neurilemmomatosis ordo_disease MONDO:0008076 amyotrophic neuralgia biolink:Disease mondo ICD9:353.5|SCTID:26609002|DOID:10383|ICD10:G54.5|GARD:0003955|OMIM:162100 SNOMEDCT:26609002|http://identifiers.org/omim/162100|DOID:10383 http://purl.obolibrary.org/obo/MONDO_0008076 amyotrophy, hereditary neuralgic|hereditary neuralgic amyotrophy|HNA|brachial plexus neuropathy, hereditary|amyotrophy, hereditary neuralgic; HNA|hereditary brachial plexus neuropathy|neuritis with brachial predilection|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|neuralgic amyotrophy MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 biolink:Disease mondo Orphanet:209886|GARD:0006806|OMIM:162000|UMLS:CN239214 Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. http://identifiers.org/omim/162000|UMLS:CN239214|ORPHA:209886 http://purl.obolibrary.org/obo/MONDO_0008073 HNFJ1|hyperuricemic nephropathy, familial juvenile|hyperuricemic nephropathy, familial juvenile, 1; HNFJ1|familial juvenile hyperuricemic nephropathy caused by mutation in UMOD|uromodulin-associated kidney disease|UMOD-associated FJHN|hyperuricemic nephropathy, familial juvenile, type 1|UMOD familial juvenile hyperuricemic nephropathy|UMOD-associated familial juvenile hyperuricemic nephropathy|UMOD-related kidney disease|FJHN type 1|uromodulin storage disease|familial juvenile gouty nephropathy|familial nephropathy with gout|hyperuricemic nephropathy, familial juvenile, 1|hyperuricemic nephropathy, familial juvenile 1|nephropathy, familial, with gout|familial juvenile hyperuricaemic nephropathy|gouty nephropathy, familial juvenile ordo_disease|gard_rare|prototype_pattern MONDO:0008074 nerve growth factor, alpha subunit biolink:Disease mondo OMIM:162020 http://identifiers.org/omim/162020 http://purl.obolibrary.org/obo/MONDO_0008074 NGFA|nerve growth factor, alpha subunit|nerve growth factor, ALPHA SUBUNIT; NGFA MONDO:0008071 autosomal dominant progressive nephropathy with hypertension biolink:Disease mondo ICD9:583.9|MESH:C562889|UMLS:C3839782|UMLS:C0403443|OMIM:161900|ICD10:I15.1|SCTID:703310005|Orphanet:88659 SNOMEDCT:703310005|MESH:C562889|http://identifiers.org/omim/161900|ORPHA:88659|UMLS:C0403443|UMLS:C3839782 http://purl.obolibrary.org/obo/MONDO_0008071 renal failure, progressive, with hypertension|renal failure, adult-onset|RFH1|nephropathy, familial|renal failure, progressive, with hypertension; RFH1|nephritis, familial, without deafness or ocular defect ordo_disease MONDO:0008072 IGAN1 biolink:Disease mondo OMIM:161950|GARD:0000863 http://identifiers.org/omim/161950 http://purl.obolibrary.org/obo/MONDO_0008072 Igan|glomerulonephritis, IgA|IgA nephropathy, susceptibility to, 1|IgA nephropathy, susceptibility to, 1; IGAN1|nephritis, IgA type|berger disease|IGAN1 predisposition MONDO:0008070 nemaline myopathy 3 biolink:Disease mondo OMIM:161800|MESH:C580202|DOID:0110927|SCTID:702349003|NCIT:C129870|UMLS:CN187050 An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles. DOID:0110927|http://identifiers.org/omim/161800|UMLS:CN187050|NCIT:C129870|SNOMEDCT:702349003|MESH:C580202 http://purl.obolibrary.org/obo/MONDO_0008070 NEM3|nemaline myopathy 3, autosomal dominant or recessive|myopathy, actin, congenital, with cores|ACTA1 nemaline myopathy|nemaline myopathy 3; NEM3|myopathy, actin, congenital, with Excess of thin myofilaments|nemaline myopathy type 3|nemaline myopathy 3|nemaline myopathy caused by mutation in ACTA1|nemaline myopathy 3, with intranuclear rods FOODON:00001714 food product component biolink:OntologyClass mondo A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. http://purl.obolibrary.org/obo/FOODON_00001714 GO:1904081 positive regulation of transcription from RNA polymerase II promoter involved in neuron differentiation biolink:OntologyClass mondo Any positive regulation of transcription from RNA polymerase II promoter that is involved in neuron differentiation. http://purl.obolibrary.org/obo/GO_1904081 up regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|stimulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|activation of transcription from RNA polymerase II promoter involved in neuron differentiation|upregulation of transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of transcription from RNA polymerase II promoter, global involved in neuron differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of global transcription from Pol II promoter involved in neuron differentiation|upregulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|activation of global transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of transcription from Pol II promoter involved in neuron differentiation|up regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|stimulation of transcription from RNA polymerase II promoter involved in neuron differentiation NCBITaxon:809 Chlamydiaceae organism taxon mondo PMID:11211261|GC_ID:11|PMID:10319462|PMID:25618261|PMID:10319506|PMID:11211265 http://purl.obolibrary.org/obo/NCBITaxon_809 MONDO:0021042 glioma biolink:Disease mondo NCIT:C3059|MESH:D005910|UMLS:C0017638|GARD:0006513|SCTID:393564001 A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. NCIT:C3059|UMLS:C0017638|MESH:D005910|SNOMEDCT:393564001 http://purl.obolibrary.org/obo/MONDO_0021042 tumor of neuroglia|glioma|glial tumor|neoplasm of the neuroglia|neoplasm of neuroglia|glial neoplasm|neuroglial neoplasm|neuroglial tumor|tumor of the neuroglia MONDO:0021041 pleural solitary fibrous tumor biolink:Disease mondo NCIT:C4457|SCTID:254646001|EFO:1000835 A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. NCIT:C4457|SNOMEDCT:254646001 http://purl.obolibrary.org/obo/MONDO_0021041 pleural cavity solitary fibrous tumor|solitary fibrous tumor of pleura|solitary fibrous tumor of the pleura|pleura solitary fibrous tumor|localized fibrous mesothelioma of pleura|localized fibrous mesothelioma of the pleura|pleural solitary fibrous tumor|fibroma of pleura|pleural Submesothelial fibroma|fibroma of the pleura|pleural fibroma MONDO:0021040 pancreatic neoplasm biolink:Disease mondo ONCOTREE:PANCREAS|SCTID:126859007|EFO:0003860|MESH:D010190|NCIT:C3305 A benign or malignant neoplasm involving the pancreas. NCIT:C3305|SNOMEDCT:126859007|MESH:D010190 http://purl.obolibrary.org/obo/MONDO_0021040 tumor of the pancreas|pancreatic neoplasm|pancreas neoplasm (disease)|tumor of pancreas|pancreas neoplasm|neoplasm of the pancreas|pancreas|pancreatic tumor|neoplasm of pancreas|pancreas tumor MONDO:0021049 vulvar neoplasm biolink:Disease mondo NCIT:C3443|SCTID:126922007|ICD9:239.5 A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma. NCIT:C3443|SNOMEDCT:126922007 http://purl.obolibrary.org/obo/MONDO_0021049 tumor of the vulva|tumor of vulva|tumor of mammalian vulva|vulva neoplasm|mammalian vulva neoplasm|vulval neoplasm|vulvar neoplasm|neoplasm of the vulva|vulvar tumor|neoplasm of vulva|neoplasm of mammalian vulva|mammalian vulva neoplasm (disease)|vulva tumor|mammalian vulva tumor MONDO:0021048 benign mastocytoma biolink:Disease mondo NCIT:C3217|DOID:4658|ICD10:D47.0|UMLS:C2242987 A localized mast cell neoplasm without metastatic potential. NCIT:C3217|UMLS:C2242987|DOID:4658 http://purl.obolibrary.org/obo/MONDO_0021048 MAST cell tumor, benign|benign mastocytoma|mastocytoma, benign MONDO:0021047 breast phyllodes tumor biolink:Disease mondo NCIT:C7575|SCTID:712989008|ONCOTREE:PT|GARD:0009514 A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component. SNOMEDCT:712989008|NCIT:C7575 http://purl.obolibrary.org/obo/MONDO_0021047 phyllodes tumor of breast|phyllodes neoplasm of breast|phyllodes tumor of the breast|phyllodes neoplasm of the breast|phyllodes breast tumor|breast phyllodes tumor|breast phyllodes neoplasm|cystosarcoma phyllodes of breast|cystosarcoma phylloides - breast|cystosarcoma phyllodes of the breast|breast cystosarcoma phyllodes|cystosarcoma phylloides of the breast|phyllodes breast neoplasm HGNC:12858 ZAP70 biolink:OntologyClass mondo http://identifiers.org/hgnc/12858 MONDO:0021046 breast fibroepithelial neoplasm biolink:Disease mondo UMLS:C1511309|ONCOTREE:BFN|NCIT:C40405 A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor. NCIT:C40405|UMLS:C1511309 http://purl.obolibrary.org/obo/MONDO_0021046 BFN|breast fibroepithelial neoplasm|breast fibroepithelial neoplasms|breast fibroepithelial tumor MONDO:0021045 fibroepithelial neoplasm biolink:Disease mondo UMLS:C0206649|MESH:D018225|NCIT:C3743|EFO:0007271 A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. NCIT:C3743|UMLS:C0206649|MESH:D018225 http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm|fibroepithelial tumor NCBITaxon:40411 Chrysosporium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_40411 MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine biolink:Disease mondo OMIM:162600|MESH:C563516|UMLS:C1834180 MESH:C563516|http://identifiers.org/omim/162600|UMLS:C1834180 http://purl.obolibrary.org/obo/MONDO_0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine MONDO:0021044 obsolete Wilms tumor biolink:Disease mondo An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. http://purl.obolibrary.org/obo/MONDO_0021044 MONDO:0008089 neutropenia, chronic familial biolink:Disease mondo OMIM:162700|ICD9:288.09|SCTID:234576008|MESH:C535815|UMLS:C3665676|GARD:0003983 MESH:C535815|http://identifiers.org/omim/162700|UMLS:C3665676|SNOMEDCT:234576008 http://purl.obolibrary.org/obo/MONDO_0008089 neutropenia, chronic familial|leukopenia benign familial|neutropenia chronic familial|chronic familial neutropenia|leukopenia, benign familial gard_rare MONDO:0021043 mixed neoplasm biolink:Disease mondo MESH:D018193|NCIT:C6930|ICDO:8940/1 A neoplasm composed of at least two distinct cellular populations. MESH:D018193|NCIT:C6930 http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm|mixed tumor MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A biolink:Disease mondo DOID:0070152|OMIM:162400|GARD:0004798 An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1. http://identifiers.org/omim/162400|DOID:0070152 http://purl.obolibrary.org/obo/MONDO_0008086 HSN 1A|neuropathy, hereditary sensory, type 1A|HSAN 1A|HSAN1A|hereditary sensory and autonomic neuropathy type 1A|hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1|neuropathy, hereditary sensory and autonomic, type IA; HSAN1A|hereditary sensory and autonomic neuropathy type IA|SPTLC1 hereditary sensory and autonomic neuropathy type 1|neuropathy, hereditary sensory and autonomic, type IA|neuropathy, hereditary sensory radicular, autosomal dominant, type 1A MONDO:0008087 hereditary neuropathy with liability to pressure palsies biolink:Disease mondo MedDRA:10069382|Orphanet:640|DOID:0060843|OMIM:162500|GARD:0005221|ICD10:G60.0|MESH:C536965|SCTID:230558006 Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. MEDDRA:10069382|DOID:0060843|http://identifiers.org/omim/162500|UMLS:C0393814|ORPHA:640|SNOMEDCT:230558006|MESH:C536965 http://purl.obolibrary.org/obo/MONDO_0008087 polyneuropathy, familial recurrent|HNPP|current pressure-sensitive neuropathy|familial recurrent polyneuropathy|heterozygous microdeletion 17p11.2p12|potato-grubbing palsy|Tomaculous neuropathy|tulip-bulb digger's palsy|tomaculous neuropathy|neuropathy, hereditary, with liability to pressure palsies; HNPP|neuropathy, hereditary, with liability to pressure palsies|hereditary neuropathy with liability to pressure palsy ordo_malformation_syndrome MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex biolink:Disease mondo UMLS:C1834206|MESH:C535714|OMIM:162370|GARD:0010086 http://identifiers.org/omim/162370|UMLS:C1834206|MESH:C535714 http://purl.obolibrary.org/obo/MONDO_0008084 neuropathy, congenital, with arthrogryposis multiplex|congenital non-progressive peripheral neuropathy with arthrogryposis multiplex gard_rare GO:1904099 negative regulation of protein O-linked glycosylation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of protein O-linked glycosylation. http://purl.obolibrary.org/obo/GO_1904099 inhibition of protein O-linked glycosylation|down-regulation of protein O-linked glycosylation|down-regulation of protein amino acid O-linked glycosylation|negative regulation of protein amino acid O-linked glycosylation|down regulation of protein amino acid O-linked glycosylation|downregulation of protein O-linked glycosylation|downregulation of protein amino acid O-linked glycosylation|inhibition of protein amino acid O-linked glycosylation|down regulation of protein O-linked glycosylation MONDO:0008085 neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance biolink:Disease mondo MESH:C563517|UMLS:C1834205|OMIM:162380 MESH:C563517|http://identifiers.org/omim/162380|UMLS:C1834205 http://purl.obolibrary.org/obo/MONDO_0008085 neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance GO:1904098 regulation of protein O-linked glycosylation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein O-linked glycosylation. http://purl.obolibrary.org/obo/GO_1904098 regulation of protein amino acid O-linked glycosylation MONDO:0008082 multiple endocrine neoplasia type 2B biolink:Disease mondo MESH:D018814|ICD10:D44.8|MedDRA:10056420|GARD:0010225|SCTID:61530001|Orphanet:247709|UMLS:C0025269|ICD10:E31.23|NCIT:C3227|ICD9:237.4|OMIM:162300|DOID:10016|ICD9:258.03 Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. DOID:10016|ORPHA:247709|http://identifiers.org/omim/162300|MEDDRA:10056420|MESH:D018814|SNOMEDCT:61530001|NCIT:C3227|UMLS:C0025269 http://purl.obolibrary.org/obo/MONDO_0008082 MEN2B|mucosal Neuroma syndrome|multiple endocrine neoplasia type 3|multiple endocrine neoplasia type IIB|men type IIB|multiple endocrine neoplasia, type 2B|MEN2B|multiple endocrine neoplasia, type IIB; MEN2B|multiple endocrine neoplasia, type IIB|multiple endocrine neoplasia, type III, formerly|multiple endocrine adenomatosis type IIB|Neuromata, mucosal, with endocrine tumors|multiple endocrine neoplasia type 2B|men type 2B|men 2B|Wagenmann-Froboese syndrome|multiple endocrine neoplasia type III|mucosal neuroma syndrome|men IIB|multiple endocrine neoplasia, type 3 (formerly)|multiple endocrine neoplasia, type III|multiple endocrine neoplasia, type 3 ordo_clinical_subtype|gard_rare MONDO:0008083 neuronal ceroid lipofuscinosis 4B biolink:Disease mondo GARD:0001222|OMIM:162350|ICD10:E75.4|UMLS:C4284284|Orphanet:228343|NCIT:C128116|UMLS:C1834207|DOID:0110720 A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. http://identifiers.org/omim/162350|UMLS:C1834207|ORPHA:228343|NCIT:C128116|UMLS:C4284284|DOID:0110720 http://purl.obolibrary.org/obo/MONDO_0008083 autosomal dominant Kufs disease|neuronal ceroid lipofuscinosis type 4B|Kuf's disease, autosomal dominant|ceroid lipofuscinosis, neuronal, 4B, autosomal dominant; CLN4B|neuronal ceroid lipofuscinosis, parry type|Kuf's disease type B|autosomal dominant neuronal ceroid lipofuscinosis 4B|ceroid lipofuscinosis, neuronal, parry type|adult neuronal ceroid lipofuscinosis 4B|CLN4B disease|CLN4B|Kufs disease, autosomal dominant|ceroid lipofuscinosis, neuronal, 4B, autosomal dominant|neuronal ceroid lipofuscinosis 4 parry type ordo_etiological_subtype HP:0002624 Abnormal venous morphology biolink:PhenotypicFeature mondo UMLS:C0241665 An anomaly of vein. http://purl.obolibrary.org/obo/HP_0002624 Abnormal vein|Venous abnormality MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral biolink:Disease mondo SCTID:254240003|OMIM:162260|MESH:C537389 MESH:C537389|SNOMEDCT:254240003|http://identifiers.org/omim/162260 http://purl.obolibrary.org/obo/MONDO_0008080 neurofibromatosis, type III, of Riccardi|neurofibromas, palmar cutaneous|neurofibromatosis, type III, mixed central and peripheral|Nf 3|NF3A|neurofibromatosis, type III, mixed central and peripheral; NF3A|neurofibromatosis, type III, Riccardi type NCBITaxon:242060 Cystoisospora organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_242060 MONDO:0008081 neurofibromatosis, type IV, of Riccardi biolink:Disease mondo MESH:C537392|OMIM:162270 MESH:C537392|http://identifiers.org/omim/162270 http://purl.obolibrary.org/obo/MONDO_0008081 neurofibromatosis, atypical|type IV neurofibromatosis of Riccardi|neurofibromatosis, type IV, of Riccardi|NF4|Nf 4|neurofibromatosis type 4|neurofibromatosis type IV|neurofibromatosis, variant form(S) of|neurofibromatosis, type IV, of RICCARDI; NF4 MONDO:0023696 Marinesco-Sjogren-like syndrome biolink:Disease mondo MESH:C535913|UMLS:C0796036|GARD:0008745 A disease with similar features to Marinesco-Sjogren syndrome. UMLS:C0796036|MESH:C535913 http://purl.obolibrary.org/obo/MONDO_0023696 Marinesco-Sjogren-like syndrome (MSLS)|juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy|juvenile cataract, cerebellar atrophy, mental retardation, and myopathy gard_rare MONDO:0023699 Maroteaux Fonfria syndrome biolink:Disease mondo GARD:0003397|MESH:C536023|UMLS:C2931088 UMLS:C2931088|MESH:C536023 http://purl.obolibrary.org/obo/MONDO_0023699 apparent apert syndrome with polydactyly|apert syndrome with polydactyly of hands and feet gard_rare MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor biolink:Disease mondo EFO:1000250|UMLS:C1333514|NCIT:C27293|DOID:4985 A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. NCIT:C27293|UMLS:C1333514|DOID:4985 http://purl.obolibrary.org/obo/MONDO_0021039 extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewings sarcoma-primitive neuroepithelial tumor|extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewing's tumor MONDO:0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor biolink:Disease mondo NCIT:C27291|UMLS:C3536893 A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. NCIT:C27291|UMLS:C3536893 http://purl.obolibrary.org/obo/MONDO_0021038 Ewing sarcoma/peripheral PNET|tumors of Ewing's family|Ewing's family of tumors|tumors of the Ewing's family|Ewing's family of tumours|EFTs|Ewing sarcoma family of tumors|Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing family of tumors|Ewing sarcoma/peripheral primitive neuroectodermal tumor HGNC:12827 XPR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12827 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome biolink:Disease mondo UMLS:C0343111|ICD10:Q82.4|GARD:0003912|SCTID:239084001|OMIM:161000|MESH:C538331|Orphanet:69087 Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. UMLS:C0343111|SNOMEDCT:239084001|http://identifiers.org/omim/161000|MESH:C538331|ORPHA:69087 http://purl.obolibrary.org/obo/MONDO_0008059 reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy|Naegeli-Franceschetti-Jadassohn syndrome|Nfj syndrome|Naegeli syndrome|NFJ syndrome|NFJS|NAEGELI syndrome|NAEGELI-Franceschetti-Jadassohn syndrome; NFJS ordo_disease MONDO:0021037 obsolete genetic neurodegenerative disease with dementia biolink:Disease mondo UMLS:CN202589|Orphanet:276058 An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome. ORPHA:276058|UMLS:CN202589 http://purl.obolibrary.org/obo/MONDO_0021037 genetic neurodegenerative disease with dementia MONDO:0021036 keratosis pilaris biolink:Disease mondo SCTID:5132005|NCIT:C124070 A form of dry skin characterised by hair follicles plugged by scale. SNOMEDCT:5132005|NCIT:C124070 http://purl.obolibrary.org/obo/MONDO_0021036 KP MONDO:0008057 Carney complex, type 1 biolink:Disease mondo OMIM:160980 Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene. http://identifiers.org/omim/160980 http://purl.obolibrary.org/obo/MONDO_0008057 PRKAR1A Carney complex|Carney complex caused by mutation in PRKAR1A|Carney complex, type 1|Carney complex, type 1; CNC1|myxoma, spotty pigmentation, and endocrine overactivity|Carney Myxoma-endocrine Complex|CNC1|lamb syndrome|name syndrome|Carney syndrome MONDO:0021035 alopecia-intellectual disability syndrome 1 biolink:Disease mondo UMLS:C1859878|OMIM:203650 UMLS:C1859878|http://identifiers.org/omim/203650 http://purl.obolibrary.org/obo/MONDO_0021035 alopecia-intellectual disability syndrome 1|alopecia-mental retardation syndrome 1|APMR|alopecia-intellectual disability syndrome 1; APMR1|APMR1|alopecia-mental retardation syndrome 1; APMR1 MONDO:0008058 cylindrical spirals myopathy biolink:Disease mondo SCTID:764525006|DOID:0080103|ICD10:G71.2|OMIM:160990|GARD:0011906|Orphanet:171886|MESH:C563535|UMLS:C1834418 Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. MESH:C563535|SNOMEDCT:764525006|UMLS:C1834418|ORPHA:171886|http://identifiers.org/omim/160990|DOID:0080103 http://purl.obolibrary.org/obo/MONDO_0008058 myotonic myopathy with cylindrical spirals ordo_disease|gard_rare MONDO:0023691 maple syrup urine disease type 1A biolink:Disease mondo GARD:0008594 A maple syrup urine disease caused by mutations in BCKDHA. http://purl.obolibrary.org/obo/MONDO_0023691 MSUD type 1A gard_rare MONDO:0021034 genetic alopecia biolink:Disease mondo Orphanet:481771 An instance of alopecia that is caused by a modification of the individual's genome. ORPHA:481771 http://purl.obolibrary.org/obo/MONDO_0021034 genetic alopecia ECTO:3000001 exposure to Viruses biolink:OntologyClass mondo A history of exposure to Viruses. http://purl.obolibrary.org/obo/ECTO_3000001 Viruses exposure MONDO:0023692 maple syrup urine disease type 1B biolink:Disease mondo GARD:0008597 A maple syrup urine disease caused by mutations in BCKDHB. http://purl.obolibrary.org/obo/MONDO_0023692 MSUD type IB|MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex|MSUD type 3 (formerly) gard_rare MONDO:0021033 herpes zoster dermatitis biolink:Disease mondo NCIT:C35619 Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve. NCIT:C35619 http://purl.obolibrary.org/obo/MONDO_0021033 herpes zoster dermatitis MONDO:0008055 myotonia congenita, autosomal dominant biolink:Disease mondo OMIM:160800|SCTID:8960007|ICD9:359.29 http://identifiers.org/omim/160800|SNOMEDCT:8960007 http://purl.obolibrary.org/obo/MONDO_0008055 myotonia Levior|Thomsen disease|myotonia congenita, autosomal dominant ECTO:3000000 exposure to organism biolink:OntologyClass mondo A history of exposure to organism. http://purl.obolibrary.org/obo/ECTO_3000000 organism exposure MONDO:0008056 myotonic dystrophy type 1 biolink:Disease mondo ICD9:359.21|Orphanet:273|NCIT:C84679|DOID:11722|ICD10:G71.11|GARD:0008310|ICD10:G71.1|OMIM:160900 Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness. ORPHA:273|UMLS:C2931688|DOID:11722|NCIT:C84679|MESH:C538008|http://identifiers.org/omim/160900 http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy 1; DM1|DM1|DMPK myotonic dystrophy|MD1|myotonic dystrophy of Steinert|DM1|myotonic dystrophy type 1|Steinert myotonic dystrophy|myotonic dystrophy 1|Steinert disease|Steinert's disease|Steinert myotonic dystrophy syndrome|congenital myotonic dystrophy|myotonic dystrophy caused by mutation in DMPK|Steinert syndrome|dystrophia myotonica|dystrophia myotonica type 1|dystrophia myotonica 1 ordo_disease MONDO:0023693 maple syrup urine disease type 2 biolink:Disease mondo GARD:0008596|HGNC:2698 A maple syrup urine disease caused by mutations in DBT. http://purl.obolibrary.org/obo/MONDO_0023693 MSUD type 2|MSUD2 gard_rare MONDO:0021032 herpes zoster with dermatitis of eyelid biolink:Disease mondo UMLS:C0019362|ICD9:053.20|NCIT:C34696|SCTID:186525007 A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve. SNOMEDCT:186525007|NCIT:C34696|UMLS:C0019362 http://purl.obolibrary.org/obo/MONDO_0021032 Herpes zoster dermatitis of eyelids|Herpes zoster with dermatitis of eyelid|herpes zoster with dermatitis of eyelid|herpes zoster dermatitis of eyelid|Herpes Zoster Dermatitis of Eyelid|herpes zoster dermatitis of eyelids HGNC:12829 XRCC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/12829 MONDO:0008053 MYP2 biolink:Disease mondo OMIM:160700|UMLS:C1834531|MESH:C563541 MESH:C563541|UMLS:C1834531|http://identifiers.org/omim/160700 http://purl.obolibrary.org/obo/MONDO_0008053 myopia 2, autosomal dominant; MYP2|MYP2|myopia 2, autosomal dominant HGNC:12831 XRCC4 biolink:OntologyClass mondo http://identifiers.org/hgnc/12831 MONDO:0008054 juvenile dermatomyositis biolink:Disease mondo UMLS:C2931785|MedDRA:10008521|ICD10:M33.0|MESH:C000598745|Orphanet:93672|SCTID:1212005|EFO:0000557|NCIT:C27576|GARD:0006805|DOID:14203|OMIM:160750 Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. DOID:14203|UMLS:C0263666|NCIT:C27576|UMLS:C2931785|ORPHA:93672|MESH:C000598745|MEDDRA:10008521|MESH:C538250|http://identifiers.org/omim/160750|SNOMEDCT:1212005 http://purl.obolibrary.org/obo/MONDO_0008054 childhood dermatomyositis|myopathy, familial idiopathic inflammatory|myoseptum inflammation|juvenile myositis|inflammation of myoseptum|juvenile DM|childhood type dermatomyositis|myoseptumitis|JPM|juvenile dermatomyositis|myositis|JDM gard_rare|ordo_disease HGNC:12830 XRCC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/12830 MONDO:0008051 tubular aggregate myopathy biolink:Disease mondo GARD:0003884|ICD10:G71.2|OMIMPS:160565|Orphanet:2593|DOID:0080089 Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported. DOID:0080089|ORPHA:2593 http://purl.obolibrary.org/obo/MONDO_0008051 myopathy, tubular aggregate, type 1|TAM1|myopathy, tubular aggregate, 1 ordo_disease|gard_rare|prototype_pattern MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans biolink:Disease mondo UMLS:C1834532|OMIM:160570|MESH:C563542 MESH:C563542|UMLS:C1834532|http://identifiers.org/omim/160570 http://purl.obolibrary.org/obo/MONDO_0008052 myopathy with storage of glycoproteins and Glycosaminoglycans MONDO:0008050 Laing early-onset distal myopathy biolink:Disease mondo ICD10:G71.0|DOID:0070197|SCTID:764859001|UMLS:CN074249|Orphanet:59135|GARD:0010769|OMIM:160500 Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. SNOMEDCT:764859001|ORPHA:59135|DOID:0070197|http://identifiers.org/omim/160500|UMLS:CN074249 http://purl.obolibrary.org/obo/MONDO_0008050 myopathy, late distal hereditary|MYH7-related skeletal myopathy|myosin storage myopathy|Laing distal myopathy|myopathy, distal, 1|Gowers disease|MPD1|myopathy, distal, type 1|myopathy, distal, 1; MPD1|distal myopathy type 1|myopathy, distal, early-onset, autosomal dominant|myopathy distal, type 1 ordo_disease MONDO:0021029 genetic sebaceous gland anomaly biolink:Disease mondo Orphanet:183460 An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. ORPHA:183460 http://purl.obolibrary.org/obo/MONDO_0021029 genetic sebaceous gland anomaly GO:0015276 ligand-gated ion channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. http://purl.obolibrary.org/obo/GO_0015276 ionotropic receptor activity MONDO:0021020 Crigler-Najjar syndrome type 1 biolink:Disease mondo OMIM:218800|ICD10:E80.5|Orphanet:79234|GARD:0000047|MedDRA:10057034|SCTID:8933000 Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT). UMLS:C2931131|SNOMEDCT:8933000|http://identifiers.org/omim/218800|MESH:C536212|ORPHA:79234|MEDDRA:10057034 http://purl.obolibrary.org/obo/MONDO_0021020 bilirubin-UGT deficiency type 1|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1|hyperbilirubinemia, Crigler-Najjar type 1|UGT deficiency type 1|hereditary unconjugated hyperbilirubinemia type 1|Crigler-Najjar syndrome, type 1|Crigler Najjar syndrome, type 1|Crigler-Najjar syndrome, type I gard_rare|ordo_clinical_subtype NCBITaxon:848 Fusobacterium organism taxon mondo PMID:11931161|PMID:1715737|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_848 Fusibacterium GO:0015291 secondary active transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. http://purl.obolibrary.org/obo/GO_0015291 coupled carrier|secondary carrier-type facilitators|heavy metal ion porter activity|energizer of outer membrane receptor-mediated transport activity|ion-gradient-driven energizer activity|galactose/glucose (methylgalactoside) porter activity|porters|electrochemical potential-driven transporter activity|multidrug endosomal transmembrane transporter activity|nitrite/nitrate porter activity|porter activity|active transporter MONDO:0021028 genetic nail anomaly biolink:Disease mondo Orphanet:183454 An instance of nail anomaly that is caused by a modification of the individual's genome. ORPHA:183454 http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly MONDO:0021027 genetic hair anomaly biolink:Disease mondo Orphanet:183450 An instance of hair anomaly that is caused by a modification of the individual's genome. ORPHA:183450 http://purl.obolibrary.org/obo/MONDO_0021027 genetic hair anomaly MONDO:0021026 genetic epidermal appendage anomaly biolink:Disease mondo Orphanet:183447 An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. ORPHA:183447 http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly MONDO:0021025 cirrhosis, familial, with antigenemia biolink:Disease mondo OMIM:118900 http://identifiers.org/omim/118900 http://purl.obolibrary.org/obo/MONDO_0021025 cirrhosis, familial MONDO:0021024 malaria, susceptibility to biolink:Disease mondo OMIM:611162 http://identifiers.org/omim/611162 http://purl.obolibrary.org/obo/MONDO_0021024 malaria, cerebral, resistance to|malaria, cerebral, susceptibility to|malaria, Severe, resistance to|malaria, Severe, susceptibility to|malaria, resistance to|malaria, susceptibility to predisposition MONDO:0008068 navicular bone, accessory biolink:Disease mondo OMIM:161600|MESH:C536002|GARD:0008543 http://identifiers.org/omim/161600|MESH:C536002 http://purl.obolibrary.org/obo/MONDO_0008068 navicular bone, accessory MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult biolink:Disease mondo MESH:C563530|OMIM:161700|UMLS:C1834340 MESH:C563530|UMLS:C1834340|http://identifiers.org/omim/161700 http://purl.obolibrary.org/obo/MONDO_0008069 Leigh syndrome, adult|necrotizing encephalomyelopathy, subacute, of Leigh, adult MONDO:0021023 complete androgen insensitivity syndrome biolink:Disease mondo Orphanet:99429|SCTID:368851000119102|GARD:0010597|ICD10:E34.51|UMLS:CN207337|ICD10:E34.5|NCIT:C120191 Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. ORPHA:99429|NCIT:C120191|SNOMEDCT:368851000119102|UMLS:CN207337 http://purl.obolibrary.org/obo/MONDO_0021023 CAIS|complete androgen resistance syndrome|androgen insensitivity syndrome, complete ordo_disease|gard_rare MONDO:0021022 hereditary hyperekplexia biolink:Disease mondo ICD10:G25.8|GARD:0003129|SCTID:724351008|DOID:0060695|OMIMPS:149400|Orphanet:3197 Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. DOID:0060695|ORPHA:3197|SNOMEDCT:724351008 http://purl.obolibrary.org/obo/MONDO_0021022 congenital stiff man syndrome|hyperexplexia hereditary|Stiff baby syndrome|familial startle disease|startle disease|Kok disease|hereditary hyperexplexia|hyperekplexia|hereditary hyperekplexia ordo_disease HP:0002607 Bowel incontinence biolink:PhenotypicFeature mondo SNOMEDCT_US:72042002|UMLS:C0015732|MSH:D005242 Involuntary fecal soiling in adults and children who have usually already been toilet trained. http://purl.obolibrary.org/obo/HP_0002607 Anal incontinence|Loss of bowel control|Fecal incontinence MONDO:0008066 nasal hyperpigmentation, familial transverse biolink:Disease mondo UMLS:C1834369|OMIM:161530 http://identifiers.org/omim/161530|UMLS:C1834369 http://purl.obolibrary.org/obo/MONDO_0008066 nasal hyperpigmentation, familial transverse MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant biolink:Disease mondo MESH:C567275|OMIM:122860|GARD:0000249 http://identifiers.org/omim/122860|MESH:C567275 http://purl.obolibrary.org/obo/MONDO_0021021 craniodiaphyseal dysplasia, autosomal dominant; CDD|dominantly inherited craniodiaphyseal dysplasia|craniodiaphyseal dysplasia, autosomal dominant|craniodiaphyseal dysplasia, dominant|Schaefer Stein Oshman syndrome|CDD MONDO:0023682 tympanic paraganglioma biolink:Disease mondo NCIT:C8428|UMLS:C0474820|GTR:AN0102048|SCTID:253031000|GTR:AN0102047|MESH:D043604 A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss. MESH:D043604|NCIT:C8428|SNOMEDCT:253031000|UMLS:C0474820 http://purl.obolibrary.org/obo/MONDO_0023682 tympanic paraganglioma|Glomus tympanicum paraganglioma|Tumor, Glomus Tympanicum|Tympanic Paraganglioma|Tympanic paraganglioma|Glomus Tympanicum Tumors|Tumors, Glomus Tympanicum|Glomus tympanicum tumor|Glomus Tympanicum Tumor MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 biolink:Disease mondo UMLS:C2750548|OMIM:161550|GARD:0007163 UMLS:C2750548|http://identifiers.org/omim/161550 http://purl.obolibrary.org/obo/MONDO_0008067 nasopharyngeal carcinoma, susceptibility to, 2|nasopharyngeal carcinoma, susceptibility to, 2; NPCA2|Npca2|nasopharyngeal carcinoma, susceptibility to, type 2 predisposition MONDO:0008064 nasal bones, absence of biolink:Disease mondo UMLS:C4082198|MESH:C562753|OMIM:161480 UMLS:C4082198|MESH:C562753|http://identifiers.org/omim/161480 http://purl.obolibrary.org/obo/MONDO_0008064 nasal bones, absence of MONDO:0008065 nasal groove, familial transverse biolink:Disease mondo OMIM:161500|UMLS:C1834370 UMLS:C1834370|http://identifiers.org/omim/161500 http://purl.obolibrary.org/obo/MONDO_0008065 nasal groove, familial transverse MONDO:0008062 narcolepsy 1 biolink:Disease mondo OMIM:161400|SCTID:46263000|UMLS:C1834372|NCIT:C84618 A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy. http://identifiers.org/omim/161400|UMLS:C1834372|NCIT:C84618|SNOMEDCT:46263000 http://purl.obolibrary.org/obo/MONDO_0008062 narcoleptic syndrome 1|cataplexy|narcolepsy 1; NRCLP1|narcolepsy caused by mutation in HCRT|HCRT narcolepsy|NRCLP1|narcolepsy 1|narcolepsy type 1 HGNC:12840 YARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12840 MONDO:0008063 nasal alar collapse, bilateral biolink:Disease mondo UMLS:C1834371|OMIM:161470|MESH:C563533 MESH:C563533|http://identifiers.org/omim/161470|UMLS:C1834371 http://purl.obolibrary.org/obo/MONDO_0008063 nasal alar collapse, bilateral MONDO:0008060 nonsyndromic congenital nail disorder 1 biolink:Disease mondo SCTID:238719003|ICD10:L60.3|GARD:0010363|OMIM:161050|UMLS:C0406443|OMIM:614157|Orphanet:280654|ICD9:703.8|DOID:0080079|DOID:0080088|UMLS:C3279974|MESH:C562907|ICD10:Q84.6|Orphanet:79153 Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails. http://identifiers.org/omim/161050|ORPHA:280654|http://identifiers.org/omim/614157|MESH:C562907|UMLS:C0406443|DOID:0080079|DOID:0080088|ORPHA:79153|SNOMEDCT:238719003|UMLS:C3279974 http://purl.obolibrary.org/obo/MONDO_0008060 FZD6 inherited isolated nail anomaly|autosomal dominant nail dysplasia|idiopathic trachyonychia|claw-Shaped nails|autosomal recessive nail dysplasia|nail disorder, nonsyndromic congenital, 1|nonsyndromic congenital nail disorder 10|nail Growth|nonsyndromic congenital nail disorder type 10|nonsyndromic congenital nail disorder type 1|onychodystrophy totalis|inherited isolated nail anomaly caused by mutation in FZD6|onychauxis, hyponychia, and onycholysis|nail disorder, nonsyndromic congenital, 10; NDNC10|trachyonychia|nail disorder, nonsyndromic congenital, type 10|twenty-nail dystrophy|nail disorder, nonsyndromic congenital 1|nail disorder, nonsyndromic congenital, 1; NDNC1|onychodystrophy totalis, isolated|sandpaper nails|NDNC1|NDNC10|nail disorder, nonsyndromic congenital, 10|twenty nail dystrophy ordo_disease MONDO:0008061 nail-patella syndrome biolink:Disease mondo OMIM:161200|SCTID:22199006|ICD9:759.89|DOID:9467|MESH:D009261|MedDRA:10063431|Orphanet:2614|UMLS:C0027341|ICD10:Q87.2|NCIT:C75120|GARD:0007160 Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. DOID:9467|http://identifiers.org/omim/161200|UMLS:C0027341|SNOMEDCT:22199006|ORPHA:2614|MESH:D009261|NCIT:C75120|MEDDRA:10063431 http://purl.obolibrary.org/obo/MONDO_0008061 NPS 1|hereditary onychoostedysplasia|Onychoosteodysplasia|Osteo-onychodysplasia|iliac horn syndrome|nail-patella syndrome|nail patella syndrome|Turner-Kieser syndrome|Turner-Kiser syndrome|hereditary Osteo-onychodysplasia|nail-patella syndrome; NPS|Arthro-onychodysplasia|NPS|Fong disease|Nps1 ordo_malformation_syndrome|gard_rare MONDO:0021019 X-linked recessive ocular albinism biolink:Disease mondo NCIT:C118785|ICD9:270.2|GARD:0008471|SCTID:78642008|OMIM:300500|ICD10:E70.3|UMLS:C0342684|Orphanet:54|MESH:C537863 X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. MESH:C537863|UMLS:C0342684|ORPHA:54|http://identifiers.org/omim/300500|SNOMEDCT:78642008|NCIT:C118785 http://purl.obolibrary.org/obo/MONDO_0021019 albinism, ocular, type I; OA1|ocular albinism type 1|X-linked ocular albinism|albinism, ocular, type I|albinism, ocular, type 1|Nettleship-Falls syndrome|OA1|ocular albinism, Nettleship-Falls type|XLOA|Nettleship-Falls type ocular albinism ordo_disease MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) biolink:Disease mondo DOID:0110305|MESH:C566370|UMLS:C3501858|Orphanet:34516|ICD10:G71.0|OMIM:603511|GARD:0012528 Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3. UMLS:C3501858|DOID:0110305|http://identifiers.org/omim/603511|ORPHA:34516|MESH:C566370 http://purl.obolibrary.org/obo/MONDO_0021018 limb-girdle muscular dystrophy type 1D|muscular dystrophy limb-girdle type 1E|autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6|muscular dystrophy, limb-girdle, type 1D, formerly|muscular dystrophy, limb-girdle, type 1E|autosomal dominant limb-girdle muscular dystrophy type 1E|muscular dystrophy limb-girdle type 1D|muscular dystrophy, limb-girdle, type 1D|LGMD1E|muscular dystrophy, limb-girdle, type 1E; LGMD1E|DNAJB6 autosomal dominant limb-girdle muscular dystrophy|LGMD1D|LGMD1D (DNAJB6)|LGMD1E (Bushby and Beckmann, 2003)|autosomal dominant limb-girdle muscular dystrophy type 1D ordo_disease HGNC:12843 YME1L1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12843 NCBITaxon:5506 Fusarium organism taxon mondo PMID:23379853|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5506 Gibberella NCBITaxon:5501 Coccidioides immitis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5501 UBERON:0019231 manual digit 1 or 5 biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019231 lateral manual digit|outer manual digit|outermost manual digit|lateral finger NCBITaxon:5500 Coccidioides organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5500 MONDO:0011603 GNE myopathy biolink:Disease mondo Orphanet:602|SCTID:702382000|OMIM:605820|ICD10:G71.8|GARD:0009493 Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps. http://identifiers.org/omim/605820|ORPHA:602|MESH:C536816|SNOMEDCT:702382000 http://purl.obolibrary.org/obo/MONDO_0011603 Nonaka myopathy|inclusion body myopathy 2, autosomal recessive, formerly|DMRV|inclusion body myopathy autosomal recessive|inclusion body myopathy 2, autosomal recessive|distal myopathy, Nonaka type|inclusion body myopathy, autosomal recessive|myopathy, distal, with or without rimmed vacuoles|rimmed vacuole myopathy|QSM|Nonaka myopathy; NM|distal myopathy with rimmed vacuoles|Nonaka distal myopathy|hereditary inclusion body myopathy type 2|HIBM2|Nonaka myopathy|inclusion body myopathy, quadriceps-sparing|NM|quadriceps-sparing myopathy|quadriceps sparing myopathy|inclusion body myopathy, hereditary, autosomal recessive|inclusion body myopathy type 2|IBM2|myopathy, distal, with rimmed vacuoles ordo_disease MONDO:0011602 autosomal recessive nonsyndromic deafness 27 biolink:Disease mondo ICD10:H90.3|DOID:0110485|OMIM:605818|UMLS:C1853941|MESH:C565287 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31. http://identifiers.org/omim/605818|UMLS:C1853941|MESH:C565287|DOID:0110485 http://purl.obolibrary.org/obo/MONDO_0011602 deafness, autosomal recessive 27; DFNB27|autosomal recessive nonsyndromic deafness type 27|deafness, autosomal recessive 27|DFNB27|autosomal recessive deafness 27 HGNC:12805 XDH biolink:OntologyClass mondo http://identifiers.org/hgnc/12805 MONDO:0011605 generalized basaloid follicular hamartoma syndrome biolink:Disease mondo SCTID:766928004|MESH:C565284|OMIM:605827|Orphanet:168632|ICD10:Q82.5|UMLS:C1853919 Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. http://identifiers.org/omim/605827|UMLS:C1853919|ORPHA:168632|SNOMEDCT:766928004|MESH:C565284 http://purl.obolibrary.org/obo/MONDO_0011605 basaloid follicular hamartoma syndrome, generalized, autosomal dominant|basaloid follicular hamartoma syndrome, generalized, autosomal dominant; GBFHS|GBFHS ordo_disease MONDO:0011604 spondylo-ocular syndrome biolink:Disease mondo ICD10:Q87.5|OMIM:605822|Orphanet:85194|SCTID:715653007 Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows. http://identifiers.org/omim/605822|SNOMEDCT:715653007|ORPHA:85194 http://purl.obolibrary.org/obo/MONDO_0011604 spondyloocular syndrome; SOS|spondyloocular syndrome|SOS ordo_malformation_syndrome CHEBI:29412 oxonium biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_29412 aquahydrogen(1+)|[OH3](+)|trihydridooxygen(1+)|oxidanium|H3O(+)|Hydronium cation|oxonium|Hydronium ion MONDO:0011607 narcolepsy 2, susceptibility to biolink:Disease mondo OMIM:605841|UMLS:C1853901 http://identifiers.org/omim/605841|UMLS:C1853901 http://purl.obolibrary.org/obo/MONDO_0011607 NRCLP2|narcolepsy 2, susceptibility to; NRCLP2|narcolepsy 2, susceptibility to predisposition UBERON:0034873 bodily gas biolink:AnatomicalEntity mondo Any substance in the body or expelled from the body that is in a gaseous state. http://purl.obolibrary.org/obo/UBERON_0034873 gas in anatomical space|portion of gas in anatomical space MONDO:0011606 baby rattle pelvis dysplasia biolink:Disease mondo MESH:C537794|MESH:C565282|UMLS:C1853911|GARD:0009289|OMIM:605838 http://identifiers.org/omim/605838|UMLS:C1853911|MESH:C565282|MESH:C537794 http://purl.obolibrary.org/obo/MONDO_0011606 baby rattle pelvic dysplasia|baby rattle pelvis dysplasia gard_rare MONDO:0011609 atopic dermatitis 6 biolink:Disease mondo OMIM:605845|UMLS:C1853899|DOID:0110102|MESH:C565279 An atopic dermatitis associated with variation in the region 5q31-q33. DOID:0110102|http://identifiers.org/omim/605845|UMLS:C1853899|MESH:C565279 http://purl.obolibrary.org/obo/MONDO_0011609 dermatitis, ATOPIC, 6|atopic dermatitis type 6|dermatitis, ATOPIC, 6; ATOD6|ATOD6 UBERON:0034874 air in respiratory system biolink:AnatomicalEntity mondo Any portion of gas located in a part of the respiratory system that is composed primarily of air. http://purl.obolibrary.org/obo/UBERON_0034874 respiratory air|respiratory system air MONDO:0011608 atopic dermatitis 5 biolink:Disease mondo UMLS:C1853900|OMIM:605844|DOID:0110101|MESH:C565280 An atopic dermatitis associated with variation in the region 13q12-q14. http://identifiers.org/omim/605844|UMLS:C1853900|MESH:C565280|DOID:0110101 http://purl.obolibrary.org/obo/MONDO_0011608 dermatitis, ATOPIC, 5|ATOD5|atopic dermatitis type 5|dermatitis, ATOPIC, 5; ATOD5 UBERON:0034875 future pituitary gland biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034875 pituitary primordium UBERON:0007257 intervertebral disk of sacral vertebra biolink:AnatomicalEntity mondo An intervertebral disk that is part of a sacral region of vertebral column. A sacral intervertebral disk connects at least one sacral vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra http://purl.obolibrary.org/obo/UBERON_0007257 intervertebral disc of sacral region UBERON:0010899 synchronous hermaphroditic organism biolink:AnatomicalEntity mondo Hermaphroditic organism that produces both male and female gametes at the same time. http://purl.obolibrary.org/obo/UBERON_0010899 serially hermaphroditic organism|simultaneous hermaphroditic organism UBERON:0007255 intervertebral disk of lumbar vertebra biolink:AnatomicalEntity mondo An intervertebral disk that is part of a lumbar region of vertebral column. A lumbar intervertebral disk connects at least one lumbar vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra http://purl.obolibrary.org/obo/UBERON_0007255 intervertebral disc of lumbar region UBERON:0007254 intervertebral disk of thoracic vertebra biolink:AnatomicalEntity mondo An intervertebral disk that is part of a thoracic region of vertebral column. A thoracic intervertebral disk connects at least one thoracic vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a lumbar vertebra http://purl.obolibrary.org/obo/UBERON_0007254 intervertebral disc of thoracic region MONDO:0011610 dimethylglycine dehydrogenase deficiency biolink:Disease mondo UMLS:C1853892|MESH:C565278|OMIM:605850|Orphanet:243343|SCTID:719449007|ICD10:E72.5 Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. ORPHA:243343|MESH:C565278|SNOMEDCT:719449007|http://identifiers.org/omim/605850|UMLS:C1853892 http://purl.obolibrary.org/obo/MONDO_0011610 DMG dehydrogenase deficiency|dimethylglycine dehydrogenase deficiency|DMGDH deficiency|Dmgdh deficiency|disorder of dimethylglycine dehydrogenase activity|disorder of dimethylglycine dehydrogenase activity|DMGDHD|dimethylglycine dehydrogenase deficiency; DMGDHD|dimethylglycine dehydrogenase activity disease ordo_disease|n_of_one GO:0042886 amide transport biolink:OntologyClass mondo The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0042886 UBERON:0007252 intervertebral disk of cervical vertebra biolink:AnatomicalEntity mondo An intervertebral disk that is part of a cervical region of vertebral column. A cervical intervertebral disk connects at least one cervical vertebra, either to another cervical vertebra, or at one point on the vertebral colummn, to a thoracic vertebra http://purl.obolibrary.org/obo/UBERON_0007252 intervertebral disc of cervical region|cervical intervertebral disc MONDO:0011612 glycine encephalopathy biolink:Disease mondo DOID:9268|ICD9:270.7|ICD10:E72.5|NCIT:C84937|GARD:0007219|UMLS:C0751748|ICD10:E72.51|OMIM:605899|Orphanet:407|SCTID:237939006 Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. SNOMEDCT:237939006|NCIT:C84937|ORPHA:407|UMLS:C0751748|http://identifiers.org/omim/605899|DOID:9268 http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy|hyperglycinemia, Nonketotic|NKA|hyperglycinemia, transient neonatal|nonketotic hyperglycinemia|hyperglycinemia nonketotic|GCE|non-ketotic hyperglycinemia|Glycine synthase deficiency|GLYCINE encephalopathy; GCE ordo_disease|gard_rare HGNC:12811 XK biolink:OntologyClass mondo http://identifiers.org/hgnc/12811 MONDO:0011611 short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting biolink:Disease mondo MESH:C566989|OMIM:605856|UMLS:C1970039 UMLS:C1970039|MESH:C566989|http://identifiers.org/omim/605856 http://purl.obolibrary.org/obo/MONDO_0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting|short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting GO:0005901 caveola biolink:OntologyClass mondo A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. http://purl.obolibrary.org/obo/GO_0005901 caveolae|caveolar membrane UBERON:0019221 digit 1 or 5 biolink:AnatomicalEntity mondo Either of the outermost digits in a five-digit autopod, or their phylogenetic equivalent. http://purl.obolibrary.org/obo/UBERON_0019221 outermost digit|outer digit|lateral digit CHEBI:30413 heme biolink:ChemicalSubstance mondo A heme is any tetrapyrrolic chelate of iron. http://purl.obolibrary.org/obo/CHEBI_30413 hemes|Haem|haem|hem|heme|haeme|hemos UBERON:0010890 pelvic complex muscle biolink:AnatomicalEntity mondo Muscles of the pelvic girdle, hindlimb or pelvic fin. http://purl.obolibrary.org/obo/UBERON_0010890 pelvic girdle or posterior limb muscle|pelvic girdle or hind limb muscle|lower limb muscle|muscle of pelvic girdle and leg|pelvic girdle and hind limb muscles|muscle of lower limb HGNC:12816 XPC biolink:OntologyClass mondo http://identifiers.org/hgnc/12816 UBERON:0010891 pectoral complex muscle biolink:AnatomicalEntity mondo A muscle of a pectoral girdle, pectoral fin or anterior limb. http://purl.obolibrary.org/obo/UBERON_0010891 muscle of upper limb|muscle of pectoral girdle and wing|pectoral girdle and fore limb muscles|muscle of pectoral girdle and limb|upper limb muscle HGNC:12814 XPA biolink:OntologyClass mondo http://identifiers.org/hgnc/12814 UBERON:0010893 median external naris biolink:AnatomicalEntity mondo Am unpaired external naris that lies in the midline of the head. http://purl.obolibrary.org/obo/UBERON_0010893 median nostril|nasohypophysial opening|median anterior naris UBERON:0034876 future neurohypophysis biolink:AnatomicalEntity mondo the outgrowth of neuroectoderm located on the floor of the embryonic hypothalamus that gives rise to the neurohypophysis (posterior lobe) of the pituitary gland http://purl.obolibrary.org/obo/UBERON_0034876 neurohypohysial region|neurohypophyseal bud UBERON:0007245 nuclear complex of neuraxis biolink:AnatomicalEntity mondo Gray matter of the central nervous system which is a collection of clustered nuclei. http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex|neural nuclei|cluster of neural nuclei UBERON:0034878 prechordal mesoderm biolink:AnatomicalEntity mondo the area of axial mesoderm that develops into the prechordal plate http://purl.obolibrary.org/obo/UBERON_0034878 prechordal mesenchyme UBERON:0010885 hindlimb cartilage element biolink:AnatomicalEntity mondo A cartilaginous condensation that has the potential to develop into a hindlimb bone. http://purl.obolibrary.org/obo/UBERON_0010885 hindlimb cartilage condensation UBERON:0007243 tunica media of vein biolink:AnatomicalEntity mondo A tunica media that is part of a vein. http://purl.obolibrary.org/obo/UBERON_0007243 venous media|tunica media (venae) UBERON:0010886 hindlimb pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that has the potential to develop into a hindlimb bone. http://purl.obolibrary.org/obo/UBERON_0010886 hindlimb pre-cartilage condensation UBERON:0007242 tunica intima of vein biolink:AnatomicalEntity mondo A tunica intima that is part of a vein. http://purl.obolibrary.org/obo/UBERON_0007242 tunica interna (intima)(venae)|venous intima UBERON:0007241 tunica adventitia of vein biolink:AnatomicalEntity mondo A tunica adventitia that is part of a vein. http://purl.obolibrary.org/obo/UBERON_0007241 tunica externa (adventitia)(venae)|venous adventitia HGNC:12823 XPNPEP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/12823 MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency biolink:Disease mondo ICD10:E72.2|MESH:C536398|UMLS:C1853942|OMIM:605814|UMLS:C4274030|Orphanet:247598|GARD:0010214|SCTID:717155003 Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia. http://identifiers.org/omim/605814|ORPHA:247598|UMLS:C1853942|UMLS:C4274030|SNOMEDCT:717155003|MESH:C536398 http://purl.obolibrary.org/obo/MONDO_0011601 neonatal-onset citrullinemia type II|neonatal intrahepatic cholestasis caused by citrin deficiency|NICCD|cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal-onset citrullinemia type 2|citrullinemia, type II, neonatal-onset|citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia ordo_disease UBERON:0007240 tunica adventitia of artery biolink:AnatomicalEntity mondo A tunica adventitia that is part of a artery. http://purl.obolibrary.org/obo/UBERON_0007240 arterial adventitia|tunica externa (adventitia)(arteriae) MONDO:0011600 congenital myasthenic syndrome 4A biolink:Disease mondo UMLS:C1853949|DOID:0110678|OMIM:605809 A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. UMLS:C1853949|DOID:0110678|http://identifiers.org/omim/605809 http://purl.obolibrary.org/obo/MONDO_0011600 congenital myasthenic syndrome 4A slow-channel|myasthenic syndrome, congenital, 4A, slow-channel|CMS1A1|congenital myasthenic syndrome type 4A|congenital myasthenic syndrome type Ia1, formerly|CMS4A|Cms Ia1, formerly|congenital myasthenic syndrometype Ia1|congenital myasthenic syndrome type Ia1|Cms Ia1|CMS Ia1|myasthenic syndrome, congenital, 4A, slow-channel; CMS4A CHEBI:30411 cobalamin biolink:ChemicalSubstance mondo A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. http://purl.obolibrary.org/obo/CHEBI_30411 cobalamin|COBALAMIN|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide UBERON:0007247 nucleus of superior olivary complex biolink:AnatomicalEntity mondo Any of the nuclei that comprise the superior olivary complex (superior olive). This includes both the primary nuclei such as the lateral and medial nuclei, as well as periolivary nuclei. http://purl.obolibrary.org/obo/UBERON_0007247 superior olivary complex nucleus HGNC:3133 EBP biolink:OntologyClass mondo http://identifiers.org/hgnc/3133 UBERON:0010883 forelimb cartilage element biolink:AnatomicalEntity mondo A cartilaginous condensation that has the potential to develop into a forelimb bone. http://purl.obolibrary.org/obo/UBERON_0010883 forelimb wing cartilaginous condensation|wing cartilaginous condensation UBERON:0010884 forelimb bone pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that has the potential to develop into a forelimb bone. http://purl.obolibrary.org/obo/UBERON_0010884 wing bone pre-cartilage condensation UBERON:0010881 limb cartilage element biolink:AnatomicalEntity mondo A skeletal element that is part of a limb and composed of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010881 UBERON:0010882 limb bone pre-cartilage condensation biolink:AnatomicalEntity mondo A skeletal element that is part of a limb and composed of pre-cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010882 HGNC:3143 EBVS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3143 NCBITaxon:27479 Reduviidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_27479 assassin bugs UBERON:0009891 facial mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing face. http://purl.obolibrary.org/obo/UBERON_0009891 face mesenchyme|mesenchyme of face HGNC:3148 TYMP biolink:OntologyClass mondo http://identifiers.org/hgnc/3148 UBERON:0007239 tunica media of artery biolink:AnatomicalEntity mondo A tunica media that is part of a artery. http://purl.obolibrary.org/obo/UBERON_0007239 arterial media|tunica media (arteriae) HGNC:3147 ECEL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3147 UBERON:0007238 1st arch maxillary component biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0007238 HGNC:3146 ECE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3146 UBERON:0007237 1st arch mandibular component biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0007237 ventral visceral arch 1|ventral mandibular arch|ventral pharyngeal arch 1 UBERON:0019206 tongue papilla epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019206 UBERON:0019207 chorioretinal region biolink:AnatomicalEntity mondo The part of the eye that consists of both the retina and the optic choroid http://purl.obolibrary.org/obo/UBERON_0019207 choroid and retina|retinachoroidal region|chorioretina|retinachoroid UBERON:0019204 skin epithelium biolink:AnatomicalEntity mondo Any region of epithelium that is part of a skin region. http://purl.obolibrary.org/obo/UBERON_0019204 UBERON:0034898 alveolar ridge of premaxilla biolink:AnatomicalEntity mondo The thickened ridge of bone that contains the tooth sockets on the premaxilla. http://purl.obolibrary.org/obo/UBERON_0034898 pars dentalis of premaxilla UBERON:0009887 interlobar vein biolink:AnatomicalEntity mondo The interlobar veins are veins of the renal circulation which drain the renal lobes. http://purl.obolibrary.org/obo/UBERON_0009887 venae interlobares renis|set of interlobar veins of kidney|interlobar vein of kidney|venae interlobares renis|interlobar veins of kidney UBERON:0007223 osseus cochlea biolink:AnatomicalEntity mondo The osseous cochlea is the bony foundation that forms the small shell arrangement for the cochlear nerve. http://purl.obolibrary.org/obo/UBERON_0007223 HGNC:3153 ECM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3153 UBERON:0009889 secondary heart field biolink:AnatomicalEntity mondo A specific region of the lateral mesoderm that will form the majority of the mesodermal component of the right ventricle, arterial pole (outflow tract) and venous pole (inflow tract). http://purl.obolibrary.org/obo/UBERON_0009889 SHF|anterior/second heart field|anterior heart field|second heart field HGNC:3151 ECHS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3151 UBERON:0007220 late embryonic stage biolink:AnatomicalEntity mondo An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/UBERON_0007220 embryo late growth stage|fetus|fetus stage|fetal stage|embryo late stage|embryo late (growth) stage HGNC:12801 XBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12801 UBERON:0009880 carpal skeleton biolink:AnatomicalEntity mondo Subdivision of skeleton that consists of the endochondral elements distal to the anterior limb/fin zeugopodial skeletal elements which constitute the proximal region of the anterior autopod skeleton[PHENOSCAPE:ad]. http://purl.obolibrary.org/obo/UBERON_0009880 set of carpal bones|ossa carpi|fore mesopodium skeleton|carpal bones set|fore mesopodial skeleton|carpal bones|carpus|skeletal parts of fore mesopodium|skeleton of carpus|ossa carpi|fore mesopodium UBERON:0009881 anterior lateral plate mesoderm biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009881 ALPM UBERON:0007228 vestibular nucleus biolink:AnatomicalEntity mondo A cranial nucleus for the vestibular nerve. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0007228 vestibular nucleus of acoustic nerve|vestibular nucleus of eighth cranial nerve|vestibular VIII nucleus UBERON:0009883 medullary ray biolink:AnatomicalEntity mondo A renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla. http://purl.obolibrary.org/obo/UBERON_0009883 Ferrein's pyramid|kidney medullary ray|renal medullary ray HGNC:3157 EDA biolink:OntologyClass mondo http://identifiers.org/hgnc/3157 UBERON:0009885 interlobar artery biolink:AnatomicalEntity mondo An artery that supplies a renal lobe. http://purl.obolibrary.org/obo/UBERON_0009885 renal interlobar artery|interlobar artery of kidney|arteriae interlobares renis|set of interlobar arteries of kidney|arteriae interlobares renis|interlobar arteries of kidney|kidney interlobar artery MONDO:0011647 Alzheimer disease 7 biolink:Disease mondo ICD10:G30|UMLS:C1853555|DOID:0110039|MESH:C565251|OMIM:606187 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. http://identifiers.org/omim/606187|MESH:C565251|DOID:0110039|UMLS:C1853555 http://purl.obolibrary.org/obo/MONDO_0011647 Ad7|Alzheimer disease, familial 7|Alzheimer disease 7|Alzheimer disease type 7|AD7|Alzheimer's disease type 7|Alzheimer's disease 7|Alzheimer disease, familial, 7 MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy biolink:Disease mondo OMIM:606183|MESH:C565252|UMLS:C1853556 http://identifiers.org/omim/606183|MESH:C565252|UMLS:C1853556 http://purl.obolibrary.org/obo/MONDO_0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy MONDO:0011649 AVSD 1 biolink:Disease mondo OMIM:606215 http://identifiers.org/omim/606215 http://purl.obolibrary.org/obo/MONDO_0011649 atrioventricular canal defect|atrioventricular septal defect, susceptibility to, 1|atrioventricular septal defect; AVSD|atrioventricular septal defect|AVC defect|endocardial cushion defect|AVSD predisposition MONDO:0011648 radiation-induced meningioma biolink:Disease mondo GARD:0008491|OMIM:606190|MESH:C536266|UMLS:C1853554 MESH:C536266|http://identifiers.org/omim/606190|UMLS:C1853554 http://purl.obolibrary.org/obo/MONDO_0011648 Mnri|radiation induced meningioma|meningioma, radiation-induced gard_rare MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 biolink:Disease mondo OMIM:606217|MESH:C565249 Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene. MESH:C565249|http://identifiers.org/omim/606217 http://purl.obolibrary.org/obo/MONDO_0011650 atrioventricular septal defect caused by mutation in CRELD1|atrioventricular septal defect, partial, with heterotaxy syndrome|susceptibility to atrioventricular septal defect 2|atrioventricular septal defect, susceptibility to, 2|atrioventricular septal defect, susceptibility to, type 2|atrioventricular septal defect, susceptibility to, 2; AVSD2|CRELD1 atrioventricular septal defect|AVSD2 predisposition GO:1904000 positive regulation of eating behavior biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of eating behavior. http://purl.obolibrary.org/obo/GO_1904000 up regulation of eating behavior|up regulation of eating behaviour|activation of eating behavior|up-regulation of eating behaviour|activation of eating behaviour|upregulation of eating behavior|upregulation of eating behaviour|up-regulation of eating behavior|positive regulation of eating behaviour MONDO:0011652 Phelan-McDermid syndrome biolink:Disease mondo MESH:C536801|ICD9:758.39|ICD10:Q93.5|OMIM:606232|Orphanet:48652|UMLS:C1853490|GARD:0010130|SCTID:699310000 Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. http://identifiers.org/omim/606232|MESH:C536801|UMLS:C1853490|ORPHA:48652|SNOMEDCT:699310000 http://purl.obolibrary.org/obo/MONDO_0011652 monosomy type 22q13|22q13 deletion|monosomy 22q13|PHELAN-McDermid syndrome|Phelan McDermid syndrome|PHELAN-McDermid syndrome; PHMDS|telomeric 22Q13 monosomy syndrome|Phelan-McDermid syndrome|22q13.3 deletion syndrome|deletion 22q13.3 syndrome|chromosome 22Q13.3 deletion syndrome|PHMDS ordo_malformation_syndrome MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations biolink:Disease mondo UMLS:C1853507|OMIM:606220|MESH:C565248 MESH:C565248|http://identifiers.org/omim/606220|UMLS:C1853507 http://purl.obolibrary.org/obo/MONDO_0011651 mental retardation, short stature, facial anomalies, and JOINT dislocations|intellectual disability, short stature, facial anomalies, and JOINT dislocations UBERON:0007298 pronephric proximal convoluted tubule biolink:AnatomicalEntity mondo A proximal convoluted tubule that is part of a pronephros. http://purl.obolibrary.org/obo/UBERON_0007298 UBERON:0007297 presumptive pronephric mesoderm biolink:AnatomicalEntity mondo A presumptive structure that has the potential to develop into a pronephric mesoderm. http://purl.obolibrary.org/obo/UBERON_0007297 nephron primordium MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism biolink:Disease mondo MESH:C565246|UMLS:C1853480|OMIM:606242 MESH:C565246|http://identifiers.org/omim/606242|UMLS:C1853480 http://purl.obolibrary.org/obo/MONDO_0011654 Kondoh syndrome|mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism|intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism MONDO:0011653 thyroid cancer, nonmedullary, 3 biolink:Disease mondo UMLS:C1853488|OMIM:606240 http://identifiers.org/omim/606240|UMLS:C1853488 http://purl.obolibrary.org/obo/MONDO_0011653 thyroid cancer, nonmedullary, 3; NMTC3|thyroid cancer, nonmedullary, 1, formerly|thyroid cancer, nonmedullary, 1|NMTC3|thyroid cancer, nonmedullary, 3 MONDO:0011656 PDB4 biolink:Disease mondo UMLS:C1853473|MESH:C565240|OMIM:606263 MESH:C565240|http://identifiers.org/omim/606263|UMLS:C1853473 http://purl.obolibrary.org/obo/MONDO_0011656 Paget disease of bone 4; PDB4|Paget disease of bone 4|PDB4 MONDO:0011655 alveolar soft part sarcoma (disease) biolink:Disease mondo UMLS:C0206657|OMIM:606243|ONCOTREE:ASPS|HP:0012218|DOID:4239|NCIT:C7943|ICD10:C49.9|NCIT:C3750|MESH:D018234|ICDO:9581/3|Orphanet:163699|GARD:0005654|UMLS:C0279544|EFO:0007143|ICD9:171.9|SCTID:404056007|MedDRA:10001882 An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh. UMLS:C0279544|DOID:4239|SNOMEDCT:404056007|http://identifiers.org/omim/606243|UMLS:C0206657|ORPHA:163699|MESH:D018234|NCIT:C7943|MEDDRA:10001882|NCIT:C3750 http://purl.obolibrary.org/obo/MONDO_0011655 adult alveolar soft Part sarcoma|alveolar soft part sarcoma|adult alveolar soft-Part sarcoma|alveolar soft PART sarcoma|ASPS|alveolar soft PART sarcoma; ASPS|childhood alveolar soft part sarcoma|alveolar soft tissue sarcoma|alveolar soft-part sarcoma|alveolar soft-tissue sarcoma|pediatric alveolar soft Part sarcoma|adult alveolar soft part sarcoma|alveolar soft Part sarcoma|ASPS ordo_disease NCBITaxon:5552 Trichosporon organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5552 NCBITaxon:5553 Trichosporon beigelii organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5553 NCBITaxon:5550 Trichophyton organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5550 MONDO:0023628 levator syndrome biolink:Disease mondo MESH:C535890|GARD:0006899|SCTID:62647006|NCIT:C113615 Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms. MESH:C535890|NCIT:C113615|SNOMEDCT:62647006 http://purl.obolibrary.org/obo/MONDO_0023628 proctalgia fugax|levator ani spasm syndrome|levator ani syndrome|paroxysmal proctalgia|levator syndrome|psychogenic anal spasm|anorectal spasm|painful spasm of anus gard_rare HGNC:3169 S1PR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3169 UBERON:0019269 gray matter of diencephalon biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019269 UBERON:0019267 gray matter of midbrain biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019267 UBERON:0019264 gray matter of forebrain biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019264 UBERON:0019262 white matter of myelencephalon biolink:AnatomicalEntity mondo A white matter that is part of the myelencephalon. http://purl.obolibrary.org/obo/UBERON_0019262 myelencephalic white matter MONDO:0008008 MOMO syndrome biolink:Disease mondo UMLS:C1834759|ICD10:Q87.3|Orphanet:2563|OMIM:157980|SCTID:724137002|MESH:C535812|GARD:0000178 MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. http://identifiers.org/omim/157980|UMLS:C1834759|ORPHA:2563|SNOMEDCT:724137002|MESH:C535812 http://purl.obolibrary.org/obo/MONDO_0008008 macrosomia-obesity-macrocephaly-ocular abnormalities syndrome|momo syndrome|macrosomia, obesity, macrocephaly, ocular abnormalities|macrocephaly-obesity-mental disability-ocular abnormalities syndrome|macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)|macrosomia, obesity, macrocephaly, and ocular abnormalities gard_rare|ordo_malformation_syndrome UBERON:0019263 gray matter of hindbrain biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019263 gray matter of the hindbrain MONDO:0008009 monilethrix biolink:Disease mondo DOID:0050472|UMLS:C0546966|MESH:D056734|NCIT:C84894|ICD10:Q84.1|GARD:0000093|Orphanet:573|SCTID:69488000|OMIM:158000 Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis. http://identifiers.org/omim/158000|SNOMEDCT:69488000|UMLS:C0546966|NCIT:C84894|MESH:D056734|ORPHA:573|DOID:0050472 http://purl.obolibrary.org/obo/MONDO_0008009 monilethrix; MNLIX|nodose hair|moniliform hair syndrome|monilethrix|MNLIX ordo_disease|gard_rare MONDO:0008006 Mobius syndrome biolink:Disease mondo ICD9:759.89|GARD:0008549|Orphanet:570|MedDRA:10030069|UMLS:C0221060|OMIM:157900|NCIT:C84893|MedDRA:10027789|ICD10:Q87.0|SCTID:89444000|EFO:1001046|MESH:D020331|DOID:13501|UMLS:C0853240 Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies. MEDDRA:10030069|MESH:D020331|NCIT:C84893|http://identifiers.org/omim/157900|ORPHA:570|UMLS:C0221060|SNOMEDCT:89444000|UMLS:C0853240|DOID:13501 http://purl.obolibrary.org/obo/MONDO_0008006 congenital facial diplegia|Moebius sequence|congenital facial diplegia syndrome|absence or underdevelopment of the 6th and 7th cranial nerves|oromandibular-limb hypogenesis spectrum|Moebius syndrome|Möbius syndrome|Moebius syndrome; MBS|Mobius syndrome|Moebius congenital oculofacial paralysis|MBS|congenital oculofacial paralysis ordo_disease MONDO:0011636 Diamond-Blackfan anemia 2 biolink:Disease mondo MESH:C536130|OMIM:606129|GARD:0008283|UMLS:C1853666 MESH:C536130|http://identifiers.org/omim/606129|UMLS:C1853666 http://purl.obolibrary.org/obo/MONDO_0011636 Diamond-Blackfan Anemia, 2|Diamond-Blackfan anemia 2; DBA2|DBA2|Diamond-Blackfan anemia 2|anemia Diamond-Blackfan 2 gard_rare UBERON:0007282 presumptive segmental plate biolink:AnatomicalEntity mondo A presumptive structure that has the potential to develop into a presomitic mesoderm. http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plates MONDO:0011635 MNG3 biolink:Disease mondo UMLS:C1853686|OMIM:606082|MESH:C565260 http://identifiers.org/omim/606082|MESH:C565260|UMLS:C1853686 http://purl.obolibrary.org/obo/MONDO_0011635 goiter, multinodular 3; MNG3|goiter, multinodular 3|MNG3 MONDO:0008007 tooth ankylosis biolink:Disease mondo UMLS:C0155930|ICD10:K03.5|MESH:D020254|MedDRA:10044019|SCTID:14901003|EFO:1001215|COHD:433229|DOID:12661|GARD:0000701|OMIM:157950|Orphanet:1077|ICD9:521.6 Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement. DOID:12661|UMLS:C0155930|MESH:D020254|http://identifiers.org/omim/157950|ORPHA:1077|SNOMEDCT:14901003|MEDDRA:10044019 http://purl.obolibrary.org/obo/MONDO_0008007 molar 1 reinclusion|secondary retention of permanent molars|permanent molars, secondary retention OF|ankylosis of teeth|ankylosis of tooth|dental ankylosis|abnormal fusion of dental cementum with alveolar bone|ankylosis (disease) of calcareous tooth|molar I reinclusion|calcareous tooth ankylosis (disease) ordo_malformation_syndrome UBERON:0007281 presumptive midbrain hindbrain boundary biolink:AnatomicalEntity mondo Embryonic structure that gives rise to the midbrain hindbrain boundary. http://purl.obolibrary.org/obo/UBERON_0007281 presumptive MHB|presumptive midbrain-hindbrain boundary MONDO:0008004 familial mitral valve prolapse biolink:Disease mondo SCTID:233858000|ICD10:I34.1|GARD:0003687|Orphanet:741 An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome. SNOMEDCT:233858000|ORPHA:741|UMLS:C0340364 http://purl.obolibrary.org/obo/MONDO_0008004 hereditary mitral valve prolapse (disease)|mitral valve prolapse, familial|MVP|mitral valve prolapse, familial, autosomal dominant ordo_morphological_anomaly MONDO:0011638 neuroferritinopathy biolink:Disease mondo MESH:C548080|ICD9:333.0|OMIM:606159|SCTID:699299001|Orphanet:157846|DOID:0110737|GARD:0010686|ICD10:G23.0|UMLS:C1853578 Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits. SNOMEDCT:699299001|MESH:C548080|http://identifiers.org/omim/606159|DOID:0110737|UMLS:C1853578|ORPHA:157846 http://purl.obolibrary.org/obo/MONDO_0011638 neurodegeneration with brain iron accumulation 3; NBIA3|hereditary ferritinopathy|neurodegeneration with brain iron accumulation type 3|basal ganglia disease adult-onset|neuroferritinopathy|Neuroferritinopathy; basal ganglia disease, adult-onset|neurodegeneration with brain iron accumulation 3|adult basal ganglia disease|basal ganglia disease, adult-onset|NBIA3|ferritin-related neurodegeneration ordo_disease UBERON:0007280 presumptive endocardium biolink:AnatomicalEntity mondo A presumptive structure that has the potential to develop into a endocardium. http://purl.obolibrary.org/obo/UBERON_0007280 MONDO:0008005 cardiospondylocarpofacial syndrome biolink:Disease mondo UMLS:CN204053|GARD:0002362|Orphanet:3238|MESH:C563572|OMIM:157800|SCTID:720612000 Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. UMLS:CN204053|ORPHA:3238|http://identifiers.org/omim/157800|SNOMEDCT:720612000|MESH:C563572 http://purl.obolibrary.org/obo/MONDO_0008005 Forney Robinson Pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|congenital heart disease, deafness, and skeletal malformations|CSCF|cardiospondylocarpofacial syndrome; CSCF|Forney-Robinson-Pascoe syndrome|Forney syndrome|cardiospondylocarpofacial syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones ordo_malformation_syndrome MONDO:0011637 Sener syndrome biolink:Disease mondo OMIM:606156|UMLS:C1853616|GARD:0008451|MESH:C537579 MESH:C537579|http://identifiers.org/omim/606156|UMLS:C1853616 http://purl.obolibrary.org/obo/MONDO_0011637 polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia|Sener syndrome|frontonasal dysplasia and dilated Virchow-Robin spaces gard_rare MONDO:0008002 mirror movements 1 biolink:Disease mondo OMIM:157600 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene. http://identifiers.org/omim/157600 http://purl.obolibrary.org/obo/MONDO_0008002 DCC familial congenital mirror movements|mirror movements 1|mirror movements type 1|MRMV1|bimanual synergia|mirror movements, congenital|mirror movements 1 and/Or agenesis of the corpus callosum|mirror movements 1; MRMV1|familial congenital mirror movements caused by mutation in DCC MONDO:0008003 autosomal dominant progressive external ophthalmoplegia biolink:Disease mondo UMLS:CN202062|Orphanet:254892|ICD10:H49.4|MESH:C563575 Autosomal dominant form of progressive external ophthalmoplegia. UMLS:CN202062|ORPHA:254892|MESH:C563575 http://purl.obolibrary.org/obo/MONDO_0008003 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|adPEO|PEOA1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1|progressive external ophthalmoplegia, autosomal dominant ordo_disease MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis biolink:Disease mondo OMIM:606164|UMLS:C4225411|UMLS:C1853576 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene. http://identifiers.org/omim/606164|UMLS:C4225411|UMLS:C1853576 http://purl.obolibrary.org/obo/MONDO_0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis; DBA15|RPS28 Diamond-Blackfan anemia|DBA15|Diamond-Blackfan anemia caused by mutation in RPS28|Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MONDO:0008000 migraine with or without aura, susceptibility to, 1 biolink:Disease mondo ICD9:346.80|OMIM:157300|SCTID:37796009|COHD:318736|ICD9:346.90 http://identifiers.org/omim/157300|SNOMEDCT:37796009 http://purl.obolibrary.org/obo/MONDO_0008000 Mgau|migraine with or without aura, susceptibility to, 1|migraine with or without aura, susceptibility to, type 1|Mgr1|migraine predisposition MONDO:0008001 milia, multiple eruptive biolink:Disease mondo MESH:C562823|UMLS:C0343079|OMIM:157400|SCTID:238749001 http://identifiers.org/omim/157400|MESH:C562823|UMLS:C0343079|SNOMEDCT:238749001 http://purl.obolibrary.org/obo/MONDO_0008001 milia, multiple eruptive; MEM|MEM|milia, multiple eruptive HGNC:3176 EDN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3176 UBERON:0007289 presumptive rhombomere 1 biolink:AnatomicalEntity mondo A presumptive structure that has the potential to develop into a rhombomere 1. http://purl.obolibrary.org/obo/UBERON_0007289 UBERON:0007288 presumptive forebrain midbrain boundary biolink:AnatomicalEntity mondo A presumptive structure that has the potential to develop into a forebrain-midbrain boundary. http://purl.obolibrary.org/obo/UBERON_0007288 MONDO:0011641 baculum, congenital absence of biolink:Disease mondo OMIM:606174 http://identifiers.org/omim/606174 http://purl.obolibrary.org/obo/MONDO_0011641 Os penis, congenital absence of|baculum, congenital absence of MONDO:0011640 genitopatellar syndrome biolink:Disease mondo GARD:0010994|ICD10:Q87.8|MESH:C565255|ICD9:759.89|SCTID:702367005|Orphanet:85201|UMLS:C1853566|OMIM:606170 Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. ORPHA:85201|SNOMEDCT:702367005|http://identifiers.org/omim/606170|MESH:C565255|UMLS:C1853566 http://purl.obolibrary.org/obo/MONDO_0011640 genitopatellar syndrome|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation|absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|GENITOPATELLAR syndrome; GTPTS|GTPTS gard_rare|ordo_malformation_syndrome MONDO:0011643 obsolete permanent neonatal diabetes mellitus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011643 UBERON:0007285 presumptive paraxial mesoderm biolink:AnatomicalEntity mondo The part of the blastula that has the potential to develop into a paraxial mesoderm. http://purl.obolibrary.org/obo/UBERON_0007285 future paraxial mesenchyme|future paraxial mesoderm MONDO:0011642 carnitine acetyltransferase deficiency biolink:Disease mondo UMLS:CN035113|SCTID:124257002|GTR:AN0098795|GARD:0008602|GTR:AN0098794|ICD9:277.6|UMLS:C1443228|OMIM:606175|MESH:C563249 A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state. http://identifiers.org/omim/606175|MESH:C563249|SNOMEDCT:124257002|UMLS:C1443228|UMLS:CN035113 http://purl.obolibrary.org/obo/MONDO_0011642 Acetyl-carnitine deficiency|CrAT|acetyl-carnitine deficiency|carnitine acetyltransferase deficiency gard_rare MONDO:0011645 aneurysmal bone cysts biolink:Disease mondo GARD:0008646|OMIM:606179 http://identifiers.org/omim/606179 http://purl.obolibrary.org/obo/MONDO_0011645 aneurysmal bone cysts gard_rare UBERON:0007284 presumptive neural plate biolink:AnatomicalEntity mondo A presumptive structure that has the potential to develop into a neural plate. http://purl.obolibrary.org/obo/UBERON_0007284 prospective neuroectoderm|prospective vegetal ectoderm MONDO:0011644 pars planitis biolink:Disease mondo OMIM:606177|MESH:D015868|EFO:1001088|DOID:12731|GARD:0007339|UMLS:C0030593|MedDRA:10034052|COHD:434026|SCTID:314428001|ICD9:363.21|ICD10:H30.2|NCIT:C34903 An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders. MESH:D015868|UMLS:C0030593|http://identifiers.org/omim/606177|NCIT:C34903|SNOMEDCT:314428001|DOID:12731 http://purl.obolibrary.org/obo/MONDO_0011644 pars plana of ciliary bodyitis|pars planitis|pars plana of ciliary body inflammation|familial pars planitis (subtype)|peripheral retinal inflammation|inflammation of pars plana of ciliary body|posterior cyclitis UBERON:0019261 white matter of forebrain biolink:AnatomicalEntity mondo A white matter that is part of the forebrain. http://purl.obolibrary.org/obo/UBERON_0019261 MONDO:0023616 obsolete familial leiomyomatosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023616 MONDO:0023619 lentigo maligna melanoma biolink:Disease mondo SCTID:302837001|GARD:0009962|NCIT:C9151|ICD9:172.8|UMLS:C2739810|ONCOTREE:SKLMM|ICDO:8742/3 Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. SNOMEDCT:302837001|UMLS:C2739810|NCIT:C9151 http://purl.obolibrary.org/obo/MONDO_0023619 malignant lentigo melanoma|LMM|Hutchison melanotic freckle|lentigo maligna melanoma|SKLMM gard_rare HGNC:3179 EDNRA biolink:OntologyClass mondo http://identifiers.org/hgnc/3179 HGNC:3178 EDN3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3178 UBERON:0019258 white matter of hindbrain biolink:AnatomicalEntity mondo A white matter that is part of the hindbrain. http://purl.obolibrary.org/obo/UBERON_0019258 MONDO:0011625 autosomal dominant nonsyndromic deafness 18 biolink:Disease mondo DOID:0110549|MESH:C565267|ICD10:H90.3|OMIM:606012|UMLS:C1853760 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22. http://identifiers.org/omim/606012|MESH:C565267|DOID:0110549|UMLS:C1853760 http://purl.obolibrary.org/obo/MONDO_0011625 autosomal dominant deafness 18|deafness, autosomal dominant 18; DFNA18|autosomal dominant nonsyndromic deafness type 18|deafness, autosomal dominant 18|DFNA18 UBERON:0007271 appendage musculature biolink:AnatomicalEntity mondo Any collection of muscles that is part of an appendage. http://purl.obolibrary.org/obo/UBERON_0007271 fin musculature MONDO:0011624 transaldolase deficiency biolink:Disease mondo MESH:C563207|Orphanet:101028|GARD:0010445|UMLS:C1291329|OMIM:606003|ICD10:E74.8|SCTID:124252008|ICD9:277.6 Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. http://identifiers.org/omim/606003|SNOMEDCT:124252008|MESH:C563207|ORPHA:101028|UMLS:C1291329 http://purl.obolibrary.org/obo/MONDO_0011624 transaldolase deficiency|Eyaid syndrome|Taldo deficiency|TALDO deficiency ordo_disease|gard_rare UBERON:0007270 pelvic appendage musculature biolink:AnatomicalEntity mondo Any collection of muscles that is part of a pelvic appendage. http://purl.obolibrary.org/obo/UBERON_0007270 pelvic fin musculature MONDO:0011627 AUTS5 biolink:Disease mondo UMLS:C1853755|OMIM:606053 UMLS:C1853755|http://identifiers.org/omim/606053 http://purl.obolibrary.org/obo/MONDO_0011627 autism, susceptibility to, 5; AUTS5|autism-related speech delay|autism, susceptibility to, 5|phrase speech delay, autism-related|AUTS5 predisposition MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia biolink:Disease mondo GARD:0010194|UMLS:C1853757|MESH:C535656|OMIM:606049 UMLS:C1853757|http://identifiers.org/omim/606049|MESH:C535656 http://purl.obolibrary.org/obo/MONDO_0011626 Aoch|acromegaloid features, overgrowth, cleft palate, and hernia|acromegaloid features, overgrowth, cleft palate and hernia gard_rare GO:1904018 positive regulation of vasculature development biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/GO_1904018 upregulation of vasculature development|up-regulation of vascular system development|up regulation of vascular system development|up-regulation of vasculature development|positive regulation of vascular system development|up regulation of vasculature development|activation of vasculature development|upregulation of vascular system development|activation of vascular system development MONDO:0011629 MOGS-CDG biolink:Disease mondo OMIM:606056|UMLS:C1853736|Orphanet:79330|GARD:0010767|DOID:0070254|SCTID:725028009|MESH:C565264|ICD10:E77.8 (2p13.1). UMLS:C1853736|DOID:0070254|http://identifiers.org/omim/606056|MESH:C565264|ORPHA:79330|SNOMEDCT:725028009 http://purl.obolibrary.org/obo/MONDO_0011629 CDG IIb|congenital disorder of glycosylation type IIb|CDG syndrome type IIb|congenital disorder of glycosylation, type IIb; CDG2B|congenital disorder of glycosylation type 2b|GCS1-CDG|congenital disorder of glycosylation, type IIb|glucosidase 1 deficiency|CDG2B|carbohydrate deficient glycoprotein syndrome type IIb|CDG-IIb|MOGS-CDG (CDG-IIb)|CDG 2B ordo_disease MONDO:0011628 propionic acidemia biolink:Disease mondo OMIM:606054|Orphanet:35|MESH:D056693|NCIT:C85030|ICD10:E71.1|SCTID:69080001|GARD:0000467|UMLS:C0268579|ICD10:E71.121|DOID:14701 Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. ORPHA:35|UMLS:C0268579|SNOMEDCT:69080001|MESH:D056693|http://identifiers.org/omim/606054|DOID:14701|NCIT:C85030|UMLS:C0311298 http://purl.obolibrary.org/obo/MONDO_0011628 propionic aciduria|prop|propionyl-CoA carboxylase deficiency|ketotic hyperglycinemia|propionic acidemia|Glycinemia, ketotic|propionyl-Coa carboxylase deficiency|GLYCINEMIA, ketotic|hyperglycinemia with ketoacidosis and leukopenia|Propionicacidemia|ketotic II glycinemia|ketotic glycinemia|PCC deficiency ordo_disease|gard_rare UBERON:0007278 presumptive sinus venosus biolink:AnatomicalEntity mondo Portion of tissue that is part of the heart tube and will become the sinus venosus. http://purl.obolibrary.org/obo/UBERON_0007278 MONDO:0011630 retinitis pigmentosa 28 biolink:Disease mondo UMLS:C1419614|ICD10:H35.5|GARD:0010394|DOID:0110365|OMIM:606068 Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene. UMLS:C1419614|http://identifiers.org/omim/606068|DOID:0110365 http://purl.obolibrary.org/obo/MONDO_0011630 retinitis pigmentosa caused by mutation in FAM161A|RP 28|retinitis pigmentosa 28|RP28|FAM161A retinitis pigmentosa|retinitis pigmentosa type 28|retinitis pigmentosa 28; RP28 gard_rare UBERON:0007277 presumptive hindbrain biolink:AnatomicalEntity mondo The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. http://purl.obolibrary.org/obo/UBERON_0007277 presumptive rhombencephalon|rhombencephalon|embryonic rhombencephalon|future hindbrain MONDO:0011632 amyotrophic lateral sclerosis type 21 biolink:Disease mondo OMIM:606070|DOID:0060212 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene. http://identifiers.org/omim/606070|DOID:0060212 http://purl.obolibrary.org/obo/MONDO_0011632 amyotrophic lateral sclerosis type 21|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|amyotrophic lateral sclerosis 21|myopathy, distal, 2, formerly|vocal cord and pharyngeal dysfunction with distal myopathy|myopathy, distal, 2|ALS21|MATR3 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 21; ALS21|amyotrophic lateral sclerosis caused by mutation in MATR3 MONDO:0011631 hemochromatosis type 4 biolink:Disease mondo ICD10:E83.1|MESH:C537249|OMIM:606069|DOID:0111028|SCTID:719975002|GARD:0010094|Orphanet:139491|UMLS:C1853733 Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. MESH:C537249|DOID:0111028|http://identifiers.org/omim/606069|ORPHA:139491|UMLS:C1853733|SNOMEDCT:719975002 http://purl.obolibrary.org/obo/MONDO_0011631 hereditary hemochromatosis caused by mutation in SLC40A1|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|hemochromatosis, type 4; HFE4|SLC40A1 hereditary hemochromatosis|HFE4|hemochromatosis due to defect in ferroportin|hemochromatosis, type 4|autosomal dominant hereditary hemochromatosis|ferroportin disease ordo_disease|gard_rare HGNC:3182 PHC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3182 MONDO:0011634 rippling muscle disease biolink:Disease mondo ICD9:359.29|ICD10:G71.8|SCTID:709281006|MedDRA:10069417 A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch MESH:C535685|MEDDRA:10069417|UMLS:C1853698|SNOMEDCT:709281006 http://purl.obolibrary.org/obo/MONDO_0011634 UBERON:0007273 pelvic appendage skeleton biolink:AnatomicalEntity mondo The collection of all skeletal elements in a pelvic appendage region. http://purl.obolibrary.org/obo/UBERON_0007273 MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C biolink:Disease mondo ICD10:G60.0|SCTID:717010007|DOID:0110182|Orphanet:99937|OMIM:606071|GARD:0001250 Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. SNOMEDCT:717010007|ORPHA:99937|http://identifiers.org/omim/606071|DOID:0110182 http://purl.obolibrary.org/obo/MONDO_0011633 CMT 2C|CMT2C|Charcot Marie Tooth disease type 2C|autosomal cominant axonal Charcot-Marie-Tooth disease type 2C|hereditary motor and sensory neuropathy, type 2C|HMSN 2 C|hereditary motor and sensory neuropathy type IIc|hereditary motor and sensory neuropathy, type IIC; HMSN2C|TRPV4 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy type 2C|Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4|Charcot-Marie-Tooth disease type 2C|autosomal dominant Charcot-Marie-Tooth disease type 2C|Charcot-Marie-Tooth neuropathy, type 2C|HMSN2C|hereditary motor and sensory neuropathy 2 C|HMSN 2C|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C|Charcot-Marie-Tooth disease, axonal, type 2C|hereditary motor and sensory neuropathy, type IIC gard_rare|ordo_disease UBERON:0007272 pectoral appendage skeleton biolink:AnatomicalEntity mondo Skeletal subdivision consisting of the anterior appendicular limb skeleton, excluding the pectoral girdle. http://purl.obolibrary.org/obo/UBERON_0007272 cheiropterygium HGNC:3180 EDNRB biolink:OntologyClass mondo http://identifiers.org/hgnc/3180 MONDO:0023603 hereditary connective tissue disorder biolink:Disease mondo NCIT:C97075|UMLS:C0410787|SCTID:363045008 An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. SNOMEDCT:363045008|UMLS:C0410787|NCIT:C97075 http://purl.obolibrary.org/obo/MONDO_0023603 connective tissue hereditary disorder|Hereditary Connective Tissue Disorder|inherited disorder of connective tissue|Connective tissue hereditary disorder|hereditary connective tissue disorder|Inherited disorder of connective tissue MONDO:0023605 Laugier-Hunziker syndrome biolink:Disease mondo ICD9:528.9|UMLS:C0406425|GARD:0009669|SCTID:238706002 UMLS:C0406425|SNOMEDCT:238706002 http://purl.obolibrary.org/obo/MONDO_0023605 Laugier and Hunziker pigmentation|LHS|Laugier-Hunziker syndrome gard_rare MONDO:0023607 Laurence-Prosser-Rocker syndrome biolink:Disease mondo MESH:C537882|UMLS:C2931651|GARD:0003201 UMLS:C2931651|MESH:C537882 http://purl.obolibrary.org/obo/MONDO_0023607 Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly|Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect gard_rare MONDO:0023609 le Marec-Bracq-Picaud syndrome biolink:Disease mondo UMLS:C2931385|GARD:0000171|MESH:C536997 UMLS:C2931385|MESH:C536997 http://purl.obolibrary.org/obo/MONDO_0023609 complex malformation syndrome with brachymesomelia gard_rare MONDO:0023601 non-classic congenital adrenal hyperplasia biolink:Disease mondo NCIT:C131442|MESH:C537877|UMLS:C0342467 A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. MESH:C537877|UMLS:C0342467|NCIT:C131442 http://purl.obolibrary.org/obo/MONDO_0023601 attenuated congenital adrenal hyperplasia|late-onset congenital adrenal hyperplasia|non classic congenital adrenal hyperplasia|LOCAH|NCCAH|non-classic congenital adrenal hyperplasia UBERON:0019241 pedal digit 1 or 5 biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019241 outermost pedal digit|outer pedal digit|lateral toe|lateral pedal digit MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency biolink:Disease mondo ICD10:E71.3|Orphanet:35701|UMLS:C2751532|OMIM:605911|GARD:0002712|MESH:C567784|SCTID:725286002 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. http://identifiers.org/omim/605911|ORPHA:35701|MESH:C567784|SNOMEDCT:725286002|UMLS:C2751532 http://purl.obolibrary.org/obo/MONDO_0011614 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency; HMGCS2D|Hmgcs2 deficiency|mitochondrial HMG-Coa synthase deficiency|3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency|HMG CoA synthetase deficiency|HMG-CoA synthase deficiency|HMGCS2D ordo_disease|gard_rare MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 biolink:Disease mondo DOID:0060369|OMIM:605909|MESH:C565276 Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene. MESH:C565276|DOID:0060369|http://identifiers.org/omim/605909 http://purl.obolibrary.org/obo/MONDO_0011613 Parkinson disease 6, autosomal recessive early-onset|early-onset Parkinson disease 6|PINK1 Parkinson disease|Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1|Parkinson disease 6, autosomal recessive early-onset; PARK6|Parkinson disease 6, late-onset, susceptibility to|Parkinson disease caused by mutation in PINK1|autosomal recessive early-onset Parkinson disease type 6|autosomal recessive early-onset Parkinson's disease 6|Parkinson disease 6, early-onset|PARK6 MONDO:0011616 holoprosencephaly 6 biolink:Disease mondo DOID:0110874|MESH:C565274|UMLS:C1853830|OMIM:605934 A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3. DOID:0110874|http://identifiers.org/omim/605934|UMLS:C1853830|MESH:C565274 http://purl.obolibrary.org/obo/MONDO_0011616 holoprosencephaly type 6|holoprosencephaly 6|holoprosencephaly 6; HPE6|HPE6 MONDO:0011615 East Texas bleeding disorder biolink:Disease mondo Orphanet:391320|ICD10:D68.2|OMIM:605913|UMLS:C1853831|MESH:C565275 http://identifiers.org/omim/605913|UMLS:C1853831|ORPHA:391320|MESH:C565275 http://purl.obolibrary.org/obo/MONDO_0011615 Bdet|bleeding disorder, EAST Texas type ordo_disease MONDO:0011618 liver fibrocystic disease and polydactyly biolink:Disease mondo MESH:C565272|OMIM:605944|UMLS:C1853827 http://identifiers.org/omim/605944|UMLS:C1853827|MESH:C565272 http://purl.obolibrary.org/obo/MONDO_0011618 liver fibrocystic disease and polydactyly MONDO:0011617 arthropathy, erosive biolink:Disease mondo MESH:C565273|OMIM:605935|UMLS:C1853829 http://identifiers.org/omim/605935|UMLS:C1853829|MESH:C565273 http://purl.obolibrary.org/obo/MONDO_0011617 arthropathy, erosive MONDO:0011619 crumpled helices and small mouth biolink:Disease mondo OMIM:605945|MESH:C536217|GARD:0010078|UMLS:C1853826 http://identifiers.org/omim/605945|UMLS:C1853826|MESH:C536217 http://purl.obolibrary.org/obo/MONDO_0011619 crumpled helices and small mouth|sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay gard_rare UBERON:0007267 trachea pre-cartilage rings biolink:AnatomicalEntity mondo A pre-cartilage condensation that is part of a trachea. http://purl.obolibrary.org/obo/UBERON_0007267 MONDO:0011621 acropectoral syndrome biolink:Disease mondo UMLS:C1853812|OMIM:605967|GARD:0008485|ICD10:Q74.0|MESH:C535664|Orphanet:85203|SCTID:720412009 Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36. SNOMEDCT:720412009|ORPHA:85203|MESH:C535664|http://identifiers.org/omim/605967|UMLS:C1853812 http://purl.obolibrary.org/obo/MONDO_0011621 syndactyly, preaxial polydactyly and sternal deformity|acropectoral syndrome; ACRPS|syndactyly-preaxial polydactyly-sternal deformity syndrome|syndactyly, preaxial polydactyly, and sternal deformity|acropectoral syndrome|acro-pectoral syndrome|ACRP syndrome|ACRPS|Dundar Acropectoral syndrome ordo_malformation_syndrome|gard_rare MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type biolink:Disease mondo OMIM:605946|Orphanet:85188|SCTID:717221005|ICD10:Q78.5|UMLS:C1853825|MESH:C565271 Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. SNOMEDCT:717221005|ORPHA:85188|MESH:C565271|http://identifiers.org/omim/605946|UMLS:C1853825 http://purl.obolibrary.org/obo/MONDO_0011620 metaphyseal dysplasia, Braun-Tinschert type ordo_malformation_syndrome MONDO:0011623 spinocerebellar ataxia, autosomal recessive 1 biolink:Disease mondo OMIM:606002|UMLS:C1853761 http://identifiers.org/omim/606002|UMLS:C1853761 http://purl.obolibrary.org/obo/MONDO_0011623 AOA2|spinocerebellar ataxia, autosomal recessive type 1|SCAR1|spinocerebellar ataxia, autosomal recessive 1|ataxia-oculomotor apraxia 2|ataxia-ocular apraxia 2|spinocerebellar ataxia, autosomal recessive 1; SCAR1 HGNC:3192 EEF1A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3192 MONDO:0011622 nephrolithiasis, uric acid, susceptibility to biolink:Disease mondo OMIM:605990 http://identifiers.org/omim/605990 http://purl.obolibrary.org/obo/MONDO_0011622 nephrolithiasis, uric acid, susceptibility to|UAN|susceptibility to uric acid nephrolithiasis|urolithiasis, uric acid, susceptibility to predisposition UBERON:0007269 pectoral appendage musculature biolink:AnatomicalEntity mondo Any collection of muscles that is part of a pectoral appendage. http://purl.obolibrary.org/obo/UBERON_0007269 pectoral fin musculature|pectoral fin muscle GO:0030813 positive regulation of nucleotide catabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. http://purl.obolibrary.org/obo/GO_0030813 upregulation of nucleotide catabolic process|positive regulation of nucleotide breakdown|positive regulation of nucleotide catabolism|up regulation of nucleotide catabolic process|stimulation of nucleotide catabolic process|up-regulation of nucleotide catabolic process|activation of nucleotide catabolic process|positive regulation of nucleotide degradation GO:0030811 regulation of nucleotide catabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. http://purl.obolibrary.org/obo/GO_0030811 regulation of nucleotide catabolism|regulation of nucleotide degradation|regulation of nucleotide breakdown GO:0030812 negative regulation of nucleotide catabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. http://purl.obolibrary.org/obo/GO_0030812 negative regulation of nucleotide breakdown|down regulation of nucleotide catabolic process|inhibition of nucleotide catabolic process|down-regulation of nucleotide catabolic process|negative regulation of nucleotide degradation|downregulation of nucleotide catabolic process|negative regulation of nucleotide catabolism GO:0030810 positive regulation of nucleotide biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. http://purl.obolibrary.org/obo/GO_0030810 upregulation of nucleotide biosynthetic process|positive regulation of nucleotide synthesis|positive regulation of nucleotide formation|up-regulation of nucleotide biosynthetic process|up regulation of nucleotide biosynthetic process|positive regulation of nucleotide biosynthesis|positive regulation of nucleotide anabolism|activation of nucleotide biosynthetic process|stimulation of nucleotide biosynthetic process NCBITaxon:5587 Rhinocladiella organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5587 UBERON:0009953 post-embryonic organism biolink:AnatomicalEntity mondo A multicellular organism that existence_starts_with a post-embryonic stage. http://purl.obolibrary.org/obo/UBERON_0009953 post-natal organism|post-hatching organism|postnatal mouse|postnatal organism|TS28 mouse UBERON:0009955 neurogenic placode biolink:AnatomicalEntity mondo Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. http://purl.obolibrary.org/obo/UBERON_0009955 placodae neurogenicae|neurogenic placodes UBERON:0034903 left atrium endocardium biolink:AnatomicalEntity mondo Endocardium that is part of the left atrium. http://purl.obolibrary.org/obo/UBERON_0034903 endocardium of left atrium|left atrium endocardial tissue|left atrial endocardium UBERON:0009958 bladder lumen biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a urinary bladder. http://purl.obolibrary.org/obo/UBERON_0009958 urinary bladder lumen|lumen of urinary bladder|bladder cavity|cavity of urinary bladder UBERON:0009959 lumen of oropharynx biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a oropharynx. http://purl.obolibrary.org/obo/UBERON_0009959 oropharynx lumen|oropharyngeal cavity UBERON:0034905 gland lumen biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034905 lumen of gland NCBITaxon:5597 Scedosporium boydii organism taxon mondo PMID:18077629|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5597 Cephalosporium boydii|Pseudallescheria boydii|Allescheria boydii UBERON:0034907 pineal parenchyma biolink:AnatomicalEntity mondo Parenchymal tissue that forms the pineal gland. http://purl.obolibrary.org/obo/UBERON_0034907 UBERON:0034908 scapular muscle biolink:AnatomicalEntity mondo Any of the muscles that are responsible for moving the scapula. In humans these are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. http://purl.obolibrary.org/obo/UBERON_0034908 UBERON:0034909 intermaxillary suture biolink:AnatomicalEntity mondo A cranial suture in the midline of the skull that connects the left and right maxilla bones http://purl.obolibrary.org/obo/UBERON_0034909 intermaxillary suture of skull NCBITaxon:5592 Microascales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5592 Plectomycetes NCBITaxon:5593 Microascaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5593 NCBITaxon:5598 Alternaria organism taxon mondo PMID:24014900|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5598 GO:0030808 regulation of nucleotide biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. http://purl.obolibrary.org/obo/GO_0030808 regulation of nucleotide formation|regulation of nucleotide anabolism|regulation of nucleotide biosynthesis|regulation of nucleotide synthesis GO:0030809 negative regulation of nucleotide biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. http://purl.obolibrary.org/obo/GO_0030809 negative regulation of nucleotide synthesis|negative regulation of nucleotide formation|down-regulation of nucleotide biosynthetic process|negative regulation of nucleotide biosynthesis|down regulation of nucleotide biosynthetic process|inhibition of nucleotide biosynthetic process|downregulation of nucleotide biosynthetic process|negative regulation of nucleotide anabolism GO:0042816 vitamin B6 metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any of the vitamin B6 compounds: pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate. http://purl.obolibrary.org/obo/GO_0042816 vitamin B6 metabolism HGNC:5716 IGKC biolink:OntologyClass mondo http://identifiers.org/hgnc/5716 HP:0002597 Abnormality of the vasculature biolink:PhenotypicFeature mondo UMLS:C0241657 An abnormality of the vasculature. http://purl.obolibrary.org/obo/HP_0002597 Vascular abnormalities|Abnormality of the vasculature|Abnormality of blood vessels UBERON:0034921 multi organ part structure biolink:AnatomicalEntity mondo An multicellular anatomical structure that has subparts of multiple organs as a part. http://purl.obolibrary.org/obo/UBERON_0034921 anatomical cluster UBERON:0034922 cell cluster biolink:AnatomicalEntity mondo A cluster of cells, largely surrounded by a morphological boundary. http://purl.obolibrary.org/obo/UBERON_0034922 UBERON:0034923 disconnected anatomical group biolink:AnatomicalEntity mondo Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. http://purl.obolibrary.org/obo/UBERON_0034923 UBERON:0010913 vertebral element biolink:AnatomicalEntity mondo Skeletal element that forms around the notochord and is part of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0010913 vertebra element|vertebra endochondral element|vertebral endochondral element|vertebra skeletal element UBERON:0034925 anatomical collection biolink:AnatomicalEntity mondo A collection of anatomical structures that are alike in terms of their morphology or developmental origin. http://purl.obolibrary.org/obo/UBERON_0034925 UBERON:0010911 ossicle biolink:AnatomicalEntity mondo Skeletal element that is often isolated, small, and variable in composition. http://purl.obolibrary.org/obo/UBERON_0010911 UBERON:0034926 anatomical row biolink:AnatomicalEntity mondo An anatomical collection that is arranged in a line. http://purl.obolibrary.org/obo/UBERON_0034926 HGNC:5724 RBPJ biolink:OntologyClass mondo http://identifiers.org/hgnc/5724 UBERON:0010912 subdivision of skeleton biolink:AnatomicalEntity mondo Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton (in vivo)|skeletal subdivision UBERON:0034928 dorsal surface of penis biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034928 dorsum penis|dorsum of penis UBERON:0034929 external soft tissue zone biolink:AnatomicalEntity mondo A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. http://purl.obolibrary.org/obo/UBERON_0034929 GO:0042827 platelet dense granule biolink:OntologyClass mondo Electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. http://purl.obolibrary.org/obo/GO_0042827 bull's eye body|platelet dense body NCBITaxon:5579 Aureobasidium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5579 GO:0005840 ribosome biolink:OntologyClass mondo An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. http://purl.obolibrary.org/obo/GO_0005840 free ribosome|membrane bound ribosome|ribosomal RNA UBERON:0009917 kidney corticomedullary boundary biolink:AnatomicalEntity mondo The region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary http://purl.obolibrary.org/obo/UBERON_0009917 UBERON:0009919 ureter smooth muscle biolink:AnatomicalEntity mondo The smooth muscle tissue surrounding the epithelium of the ureter http://purl.obolibrary.org/obo/UBERON_0009919 ureteral smooth muscle layer|ureteral smooth muscle UBERON:0034940 venous sinus cavity biolink:AnatomicalEntity mondo An enlarged chamber in the blood sinus capable of accumulating a large volume of blood. http://purl.obolibrary.org/obo/UBERON_0034940 blood sinus lumen|blood sinus cavity UBERON:0009920 optic neural crest biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009920 UBERON:0034932 epithelium of biliary system biolink:AnatomicalEntity mondo The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. http://purl.obolibrary.org/obo/UBERON_0034932 biliary epithelium|biliary system epithelium|biliary tract epithelium UBERON:0034933 layer of smooth muscle tissue biolink:AnatomicalEntity mondo Any organ component layer that consists of smooth muscle tissue. http://purl.obolibrary.org/obo/UBERON_0034933 UBERON:0034936 pars plana of ciliary body biolink:AnatomicalEntity mondo Flattened posterior region of ciliary body http://purl.obolibrary.org/obo/UBERON_0034936 orbiculus ciliaris|ciliary ring NCBITaxon:5583 Exophiala organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5583 Nadsoniella|Wangiella UBERON:0019310 glossopharyngeal nerve root biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019310 glossopharyngeal nerve root UBERON:0019311 root of olfactory nerve biolink:AnatomicalEntity mondo The initial segment of an olfactory nerve, leaving the central nervous system. http://purl.obolibrary.org/obo/UBERON_0019311 olfactory nerve root CHEBI:29337 azanide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_29337 amide|dihydridonitrate(1-)|NH2(-)|azanide CHEBI:32988 amide biolink:ChemicalSubstance mondo An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/CHEBI_32988 amides|Amide UBERON:0019319 exocrine gland of integumental system biolink:AnatomicalEntity mondo An exocrine gland that is part of a integumental system. http://purl.obolibrary.org/obo/UBERON_0019319 integumental system exocrine gland|integumental exocrine gland UBERON:0010983 levator scapulae pre-muscle mass biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010983 UBERON:0019315 meibum biolink:AnatomicalEntity mondo an oily substance that prevents evaporation of the eye's tear film http://purl.obolibrary.org/obo/UBERON_0019315 tarsal gland secretion UBERON:0010977 flexor pre-muscle mass biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010977 OBO:cl#lacks_plasma_membrane_part lacks_plasma_membrane_part biolink:OntologyClass mondo http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part UBERON:0019307 epithelium of external nose biolink:AnatomicalEntity mondo Epithelial layer that is part of the external part of the nose. http://purl.obolibrary.org/obo/UBERON_0019307 epithelium of skin of external nose CHEBI:29347 monocarboxylic acid amide biolink:ChemicalSubstance mondo A carboxamide derived from a monocarboxylic acid. http://purl.obolibrary.org/obo/CHEBI_29347 monocarboxylic acid amides CHEBI:29340 hydridonitrate(2-) biolink:ChemicalSubstance mondo A divalent inorganic anion resulting from the removal of two protons from ammonia. http://purl.obolibrary.org/obo/CHEBI_29340 hydridonitrate(2-)|azanediide|imide|NH(2-) UBERON:0019306 nose epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019306 UBERON:0019303 occipital sulcus biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019303 occipital lobe sulcus UBERON:0019304 sensory organ epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019304 UBERON:0010963 trunk and cervical myotome group biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010963 CHEBI:17334 penicillin biolink:ChemicalSubstance mondo Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6. http://purl.obolibrary.org/obo/CHEBI_17334 Penicillin|penicillins|penicillins UBERON:0007329 pancreatic duct biolink:AnatomicalEntity mondo A duct that collects and carries secretions of the exocrine pancreas to the intestine. http://purl.obolibrary.org/obo/UBERON_0007329 pancreas duct|duct of pancreas|ductus pancreaticus GO:0005829 cytosol biolink:OntologyClass mondo The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. http://purl.obolibrary.org/obo/GO_0005829 UBERON:0007324 pancreatic lobule biolink:AnatomicalEntity mondo A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. http://purl.obolibrary.org/obo/UBERON_0007324 lobulus pancreaticus|pancreas lobe|pancreatic lobule UBERON:0009978 epicondyle biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0009978 epicondylus GO:0042866 pyruvate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of pyruvate, 2-oxopropanoate. http://purl.obolibrary.org/obo/GO_0042866 pyruvate biosynthesis|pyruvate anabolism|pyruvate synthesis|pyruvate formation UBERON:0010959 craniocervical muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of either the head or the neck. http://purl.obolibrary.org/obo/UBERON_0010959 muscle of head and neck|muscle of head or neck UBERON:0009970 epithelium of pancreatic duct biolink:AnatomicalEntity mondo An epithelium that is part of a pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0009970 pancreatic ductal epithelium|pancreatic duct epithelium UBERON:0009972 ureteropelvic junction biolink:AnatomicalEntity mondo The junction between the ureter and the renal pelvis of the kidney http://purl.obolibrary.org/obo/UBERON_0009972 pelvoureteric junction|pelviureteric junction UBERON:0009973 ureterovesical junction biolink:AnatomicalEntity mondo The valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney http://purl.obolibrary.org/obo/UBERON_0009973 vesico-ureteral junction|vesicoureteric junction|vesico-ureteric junction UBERON:0009974 lumen of Rathke's pouch biolink:AnatomicalEntity mondo An anatomical cavity that surrounded_by a Rathke's pouch. http://purl.obolibrary.org/obo/UBERON_0009974 Rathkes pouch invagination NCBITaxon:88456 Cyclospora cayetanensis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_88456 UBERON:0007301 appendage blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a limb/fin. http://purl.obolibrary.org/obo/UBERON_0007301 fin blood vessel|limb blood vessel UBERON:0007300 pectoral appendage blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a pectoral appendage. http://purl.obolibrary.org/obo/UBERON_0007300 pectoral fin blood vessel CHEBI:17359 sulfite biolink:ChemicalSubstance mondo A sulfur oxoanion that is the conjugate base of hydrogen sulfite (H2SO3). http://purl.obolibrary.org/obo/CHEBI_17359 sulfite|trioxidosulfate(2-)|SO3(2-)|sulphite|[SO3](2-)|SO3|trioxosulfate(2-)|SULFITE ION|trioxosulfate(IV) NCBITaxon:122277 Pectobacterium organism taxon mondo PMID:11155980|GC_ID:11|PMID:9779605 http://purl.obolibrary.org/obo/NCBITaxon_122277 UBERON:0007307 pronephric glomerular basement membrane biolink:AnatomicalEntity mondo A glomerular basement membrane that is part of a pronephros. http://purl.obolibrary.org/obo/UBERON_0007307 pronephric glomerular filtration membrane UBERON:0007306 pronephric glomerular capillary biolink:AnatomicalEntity mondo A glomerular capillary that is part of a pronephros. http://purl.obolibrary.org/obo/UBERON_0007306 UBERON:0010949 sternooccipital muscle biolink:AnatomicalEntity mondo A muscle organ that has_muscle_insertion a occipital bone and has_muscle_origin a sternum. http://purl.obolibrary.org/obo/UBERON_0010949 sternooccipital UBERON:0007304 appendage vasculature biolink:AnatomicalEntity mondo A vasculature that is part of a limb/fin. http://purl.obolibrary.org/obo/UBERON_0007304 fin vasculature UBERON:0007303 pharyngeal vasculature biolink:AnatomicalEntity mondo A vasculature that is part of a chordate pharynx. http://purl.obolibrary.org/obo/UBERON_0007303 branchial vasculature UBERON:0007302 pectoral appendage vasculature biolink:AnatomicalEntity mondo A vasculature that is part of a pectoral appendage. http://purl.obolibrary.org/obo/UBERON_0007302 pectoral fin vasculature MONDO:0021097 intraductal breast papilloma biolink:Disease mondo NCIT:C3863|EFO:1000306|DOID:1626|SCTID:254848002|SCTID:99571000119102 A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units. SNOMEDCT:99571000119102|DOID:1626|NCIT:C3863|SNOMEDCT:254848002 http://purl.obolibrary.org/obo/MONDO_0021097 ductal breast papilloma|intraductal papilloma of the breast|duct papilloma of breast|breast duct papilloma|breast papilloma|mammary duct papilloma|papilloma of the breast|duct papilloma of the breast|papilloma of breast|intraductal breast papilloma|intraductal papilloma of breast MONDO:0021096 papillary epithelial neoplasm biolink:Disease mondo UMLS:C1335324|NCIT:C8429 NCIT:C8429|UMLS:C1335324 http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm MONDO:0045063 major salivary gland adenoid cystic carcinoma biolink:Disease mondo NCIT:C5905|UMLS:C1334548 An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. NCIT:C5905|UMLS:C1334548 http://purl.obolibrary.org/obo/MONDO_0045063 adenoid cystic carcinoma of the major salivary gland|major salivary gland adenoid cystic carcinoma|major salivary gland adenoid cystic cancer|adenoid cystic carcinoma of major salivary gland MONDO:0021095 parkinsonian disorder biolink:Disease mondo MESH:D020734 A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA. MESH:D020734 http://purl.obolibrary.org/obo/MONDO_0021095 MONDO:0021094 immunodeficiency disease biolink:Disease mondo SCTID:234532001|ICD9:279.3|COHD:433740|NCIT:C3131|OMIMPS:300755 Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. SNOMEDCT:234532001|NCIT:C3131 http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency syndrome|immunodeficiency disorder|immuno-deficiency|immunodeficiency MONDO:0021093 cranioectodermal dysplasia 1 biolink:Disease mondo OMIM:218330 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. http://identifiers.org/omim/218330 http://purl.obolibrary.org/obo/MONDO_0021093 Levin syndrome 1|cranioectodermal dysplasia 1; CED1|cranioectodermal dysplasia caused by mutation in IFT122|cranioectodermal dysplasia type 1|IFT122 cranioectodermal dysplasia|Sensenbrenner syndrome|cranioectodermal dysplasia 1|CED1 MONDO:0045060 intraductal cribriform breast adenocarcinoma biolink:Disease mondo ICDO:8201/2|UMLS:C1334248|NCIT:C5138 A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern. NCIT:C5138|UMLS:C1334248 http://purl.obolibrary.org/obo/MONDO_0045060 non-infiltrating cribriform ductal breast carcinoma|cribriform ductal breast carcinoma in situ|cribriform ductal carcinoma in situ of breast|ductal carcinoma in situ of breast with cribriform pattern|ductal carcinoma in situ of the breast with cribriform pattern|cribriform ductal carcinoma in situ of the breast|non-invasive cribriform ductal breast carcinoma|DCIS of breast with cribriform pattern|cribriform DCIS of breast|DCIS of the breast with cribriform pattern|cribriform DCIS of the breast|intraductal cribriform breast adenocarcinoma MONDO:0021092 fallopian tube neoplasm biolink:Disease mondo SCTID:126916003|UMLS:C0015558|NCIT:C3032|ICD9:239.5 A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma. SNOMEDCT:126916003|NCIT:C3032|UMLS:C0015558 http://purl.obolibrary.org/obo/MONDO_0021092 tumor of the fallopian tube|fallopian tube neoplasm|tumor of fallopian tube|fallopian tube neoplasm (disease)|neoplasm of the fallopian tube|neoplasm of fallopian tube|fallopian tube tumor MONDO:0021091 papillary cystadenoma biolink:Disease mondo NCIT:C2974|MESH:D018292|ICDO:8450/0|UMLS:C0010636 A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures. MESH:D018292|UMLS:C0010636|NCIT:C2974 http://purl.obolibrary.org/obo/MONDO_0021091 cystadenoma, papillary, benign|papillary cystadenoma MONDO:0021090 lipid-rich breast carcinoma biolink:Disease mondo UMLS:C1517894|DOID:7076|NCIT:C40365 An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. DOID:7076|UMLS:C1517894|NCIT:C40365 http://purl.obolibrary.org/obo/MONDO_0021090 lipid secreting breast carcinoma|lipid-rich breast carcinoma|breast lipid-rich carcinoma NCBITaxon:730 [Haemophilus] ducreyi organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_730 Haemophilus ducreyi|Coccobacillus ducreyi|Bacillus ulceris cancrosi HP:0002538 Abnormality of the cerebral cortex biolink:PhenotypicFeature mondo UMLS:C4025701 An abnormality of the cerebral cortex. http://purl.obolibrary.org/obo/HP_0002538 MONDO:0045068 minor salivary gland adenoid cystic carcinoma biolink:Disease mondo NCIT:C5936|UMLS:C1334769 An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. NCIT:C5936|UMLS:C1334769 http://purl.obolibrary.org/obo/MONDO_0045068 minor salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma of minor salivary gland|adenoid cystic carcinoma of the minor salivary gland MONDO:0021099 intraductal papillomatosis biolink:Disease mondo UMLS:C0334377|NCIT:C7363|ICDO:8505/0 A neoplastic process characterized by the presence of multiple intraductal papillomas. NCIT:C7363|UMLS:C0334377 http://purl.obolibrary.org/obo/MONDO_0021099 intraductal papillomatosis|duct papillomatosis MONDO:0045069 minor salivary gland carcinoma biolink:Disease mondo UMLS:C1334771|NCIT:C5957 A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma. NCIT:C5957|UMLS:C1334771 http://purl.obolibrary.org/obo/MONDO_0045069 minor salivary gland carcinoma|minor salivary gland cancer|carcinoma of the minor salivary gland|carcinoma of minor salivary gland MONDO:0021098 papillomatosis biolink:Disease mondo NCIT:C3713 Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site. NCIT:C3713 http://purl.obolibrary.org/obo/MONDO_0021098 papillomatosis HP:0002536 Abnormal cortical gyration biolink:PhenotypicFeature mondo UMLS:C1856019 An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. http://purl.obolibrary.org/obo/HP_0002536 Cerebral gyral anomalies|Abnormal gyration MONDO:0021086 gingival neoplasm biolink:Disease mondo UMLS:C0017570|NCIT:C3057|SCTID:126792007 A benign or malignant neoplasm that affects the upper or lower gingiva. SNOMEDCT:126792007|UMLS:C0017570|NCIT:C3057 http://purl.obolibrary.org/obo/MONDO_0021086 tumor of the gum|gum neoplasm|tumor of gum|gingival neoplasm|gingiva neoplasm|gingival tumor|tumor of the gingiva|neoplasm of gingiva|neoplasm of the gum|gingiva tumor|neoplasm of gum|gum tumor|gingiva neoplasm (disease)|tumor of gingiva|neoplasm of the gingiva MONDO:0021085 gastric neoplasm biolink:Disease mondo SCTID:126824007|EFO:0003897|MESH:D013274|UMLS:C0038356|NCIT:C3387 A benign or malignant neoplasm involving the stomach. UMLS:C0038356|SNOMEDCT:126824007|NCIT:C3387|MESH:D013274 http://purl.obolibrary.org/obo/MONDO_0021085 gastric neoplasm|tumor of the stomach|neoplasm of stomach|stomach neoplasm|gastric tumor|stomach neoplasm (disease)|stomach tumor|neoplasm of the stomach|tumor of stomach MONDO:0021084 vision disorder biolink:Disease mondo SCTID:95677002|UMLS:C0042790|NCIT:C35126|MESH:D014786 Any impairment to the vision. UMLS:C0042790|SNOMEDCT:95677002|NCIT:C35126|MESH:D014786 http://purl.obolibrary.org/obo/MONDO_0021084 disorder of vision|vision disorder|visual system disorder|visual Field disorder|visual disorder|disorder of visual system NCBITaxon:747 Pasteurella multocida organism taxon mondo GC_ID:11|PMID:15184562 http://purl.obolibrary.org/obo/NCBITaxon_747 Micrococcus gallicidus|Pasteurella gallicida|Pasteurella cholerae-gallinarum|Bacterium multocidum MONDO:0021083 congenital fibrosis of extraocular muscles type 1 biolink:Disease mondo OMIM:135700 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene. http://identifiers.org/omim/135700 http://purl.obolibrary.org/obo/MONDO_0021083 fibrosis of extraocular muscles, congenital, 3B|CFEOM1|fibrosis of extraocular muscles, congenital, 1; CFEOM1|fibrosis of extraocular muscles, congenital, 1|congenital fibrosis of extraocular muscles caused by mutation in KIF21A|KIF21A congenital fibrosis of extraocular muscles|ophthalmoplegia, congenital|blepharoptosis with absent eye movements|Feom1 locus MONDO:0045071 mycosis fungoides variant biolink:Disease mondo UMLS:C1513782|NCIT:C39644 NCIT:C39644|UMLS:C1513782 http://purl.obolibrary.org/obo/MONDO_0045071 mycosis fungoides variant MONDO:0021082 Meckel diverticulum neoplasm biolink:Disease mondo UMLS:C0345839|SCTID:126836001 A neoplasm involving a Meckel's diverticulum. SNOMEDCT:126836001|UMLS:C0345839 http://purl.obolibrary.org/obo/MONDO_0021082 neoplasm of Meckel's diverticulum|Meckel's diverticulum tumor|Meckel's diverticulum neoplasm|tumor of Meckel's diverticulum|Meckel's diverticulum neoplasm (disease) GO:0030886 negative regulation of myeloid dendritic cell activation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation. http://purl.obolibrary.org/obo/GO_0030886 down-regulation of myeloid dendritic cell activation|down regulation of myeloid dendritic cell activation|inhibition of myeloid dendritic cell activation|downregulation of myeloid dendritic cell activation MONDO:0045070 digestive system melanoma biolink:Disease mondo UMLS:C1333798|GARD:0010409|NCIT:C7091 A melanoma that arises from any part of the digestive system. UMLS:C1333798|NCIT:C7091 http://purl.obolibrary.org/obo/MONDO_0045070 gastrointestinal melanoma|melanoma (disease) of digestive system|digestive system melanoma (disease)|digestive system melanoma MONDO:0021081 anti-NMDA receptor encephalitis biolink:Disease mondo MESH:D060426|NCIT:C94853 An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor. MESH:D060426|NCIT:C94853 http://purl.obolibrary.org/obo/MONDO_0021081 anti-NMDA receptor encephalitis GO:0030887 positive regulation of myeloid dendritic cell activation biolink:OntologyClass mondo Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation. http://purl.obolibrary.org/obo/GO_0030887 up regulation of myeloid dendritic cell activation|activation of myeloid dendritic cell activation|stimulation of myeloid dendritic cell activation|upregulation of myeloid dendritic cell activation|up-regulation of myeloid dendritic cell activation MONDO:0021080 blood vessel neoplasm biolink:Disease mondo NCIT:C7387|SCTID:126736007 A neoplasm arising from arteries or veins. SNOMEDCT:126736007|NCIT:C7387 http://purl.obolibrary.org/obo/MONDO_0021080 neoplasm of blood vessel|blood vessel neoplasm|tumor of blood vessel|blood vessel neoplasm (disease)|blood vessel tumor MONDO:0045072 ectopic hormone secretion syndrome associated with neoplasia biolink:Disease mondo UMLS:C0851689|NCIT:C4065 Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body. NCIT:C4065|UMLS:C0851689 http://purl.obolibrary.org/obo/MONDO_0045072 neoplasm associated ectopic hormone secretion syndrome|ectopic hormone secretion syndrome associated with neoplasia GO:0030885 regulation of myeloid dendritic cell activation biolink:OntologyClass mondo Any process that modulates the frequency or rate of myeloid dendritic cell activation. http://purl.obolibrary.org/obo/GO_0030885 MONDO:0060688 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency biolink:Disease mondo OMIM:617953|UMLS:CN244571 http://identifiers.org/omim/617953|UMLS:CN244571 http://purl.obolibrary.org/obo/MONDO_0060688 hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4|hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency NCBITaxon:745 Pasteurella organism taxon mondo GC_ID:11|PMID:1736960 http://purl.obolibrary.org/obo/NCBITaxon_745 MONDO:0021089 peripheral nervous system cancer biolink:Disease mondo NCIT:C4961|SCTID:254986007|UMLS:C0751428|ICD9:171.9 Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location UMLS:C0751428|SNOMEDCT:254986007|NCIT:C4961 http://purl.obolibrary.org/obo/MONDO_0021089 malignant tumor of peripheral nervous system|peripheral nervous system cancer|malignant peripheral nervous system neoplasm|cancer of peripheral nervous system|malignant neoplasm of peripheral nerve|malignant peripheral nerve tumor|malignant neoplasm of the peripheral nerve|malignant neoplasm of the PNS|malignant neoplasms, peripheral nerve|malignant neoplasm of PNS|malignant PNS tumor|malignant PNS neoplasm|malignant neoplasm of peripheral nervous system|malignant neoplasm of the peripheral nervous system|malignant peripheral nerve neoplasm|malignant tumor of the PNS|malignant peripheral nervous system tumor|peripheral nervous system neoplasms, malignant|malignant tumor of PNS|malignant tumor of peripheral nerve|malignant tumor of the peripheral nerve|malignant tumor of the peripheral nervous system MONDO:0021088 papillary meningioma biolink:Disease mondo NCIT:C3904|UMLS:C3163622|ICDO:9538/3|ONCOTREE:PPM A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern. UMLS:C3163622|NCIT:C3904 http://purl.obolibrary.org/obo/MONDO_0021088 papillary meningioma MONDO:0021087 obsolete malignant granular cell myoblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0021087 MONDO:0060690 phenytoin toxicity biolink:Disease mondo OMIM:617955 http://identifiers.org/omim/617955 http://purl.obolibrary.org/obo/MONDO_0060690 fetal hydantoin syndrome|arene oxide detoxification defect|diphenylhydantoin, defect in hydroxylation of|phenytoin toxicity GO:0015267 channel activity biolink:OntologyClass mondo Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. http://purl.obolibrary.org/obo/GO_0015267 channel-forming toxin activity|channel/pore class transporter activity|pore activity|alpha-type channel activity|nonselective channel activity|pore class transporter activity|substrate-specific channel activity MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 biolink:Disease mondo DOID:0080258|UMLS:CN317536|OMIM:617571 http://identifiers.org/omim/617571|UMLS:CN317536|DOID:0080258 http://purl.obolibrary.org/obo/MONDO_0033091 ARCI14|autosomal recessive congenital ichthyosis 14|ichthyosis, congenital, autosomal recessive 14; ARCI14 MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 biolink:Disease mondo UMLS:CN321864|DOID:0080257|OMIM:617574 http://identifiers.org/omim/617574|DOID:0080257|UMLS:CN321864 http://purl.obolibrary.org/obo/MONDO_0033092 ARCI13|autosomal recessive congenital ichthyosis 13|ichthyosis, congenital, autosomal recessive 13; ARCI13 MONDO:0021075 neoplastic polyp biolink:Disease mondo UMLS:C1334941|NCIT:C7068 UMLS:C1334941|NCIT:C7068 http://purl.obolibrary.org/obo/MONDO_0021075 neoplastic polyp GO:0030879 mammary gland development biolink:OntologyClass mondo The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages. http://purl.obolibrary.org/obo/GO_0030879 mammogenesis MONDO:0021074 precancerous condition biolink:Disease mondo MESH:D011230|NCIT:C3341 A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. MESH:D011230|NCIT:C3341 http://purl.obolibrary.org/obo/MONDO_0021074 premalignant condition|precancerous condition|premalignant state|precancerous state MONDO:0021073 paraneoplastic syndrome biolink:Disease mondo UMLS:C0030472|SCTID:49783001|MESH:D010257|NCIT:C3311 A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm. UMLS:C0030472|MESH:D010257|SNOMEDCT:49783001|NCIT:C3311 http://purl.obolibrary.org/obo/MONDO_0021073 paraneoplastic syndrome MONDO:0021072 sympathetic paraganglioma biolink:Disease mondo SCTID:399343007|NCIT:C4216|MESH:C531777|ICDO:8681/1 A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension. NCIT:C4216|SNOMEDCT:399343007|MESH:C531777 http://purl.obolibrary.org/obo/MONDO_0021072 chromaffin neoplasm|chromaffin tumor|sympathetic nervous system paraganglioma|Chromaffinoma|sympathetic paraganglioma|sympathetic Paraganglionic neoplasm|paraganglioma of sympathetic nervous system MONDO:0021071 laryngeal neoplasm biolink:Disease mondo EFO:0003817|SCTID:126692004|UMLS:C0023055|MESH:D007822|NCIT:C3156 A benign or malignant neoplasm involving the larynx. SNOMEDCT:126692004|UMLS:C0023055|MESH:D007822|NCIT:C3156 http://purl.obolibrary.org/obo/MONDO_0021071 tumor of larynx|neoplasm of the larynx|larynx neoplasm|larynx neoplasm (disease)|neoplasm of larynx|larynx tumor|tumor of the larynx|laryngeal neoplasm|laryngeal tumor MONDO:0021070 sublingual gland carcinoma biolink:Disease mondo SCTID:254466003|NCIT:C8397|UMLS:C0345611 A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma. NCIT:C8397|SNOMEDCT:254466003|UMLS:C0345611 http://purl.obolibrary.org/obo/MONDO_0021070 sublingual gland cancer|carcinoma of sublingual gland|carcinoma of the sublingual gland|sublingual gland carcinoma MONDO:0021079 childhood neoplasm biolink:Disease mondo NCIT:C6283 A benign or malignant neoplasm arising during childhood. NCIT:C6283 http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm (disease)|childhood neoplasm|pediatric tumor|pediatric neoplasm (disease)|pediatric neoplasm (disease)|neoplasm|pediatric neoplasm|neoplasm|childhood tumor|neoplasm (disease) of childhood MONDO:0021078 glandular papilloma biolink:Disease mondo NCIT:C6880 NCIT:C6880 http://purl.obolibrary.org/obo/MONDO_0021078 glandular papilloma MONDO:0021077 cystic neoplasm biolink:Disease mondo UMLS:C1333190|NCIT:C6784 A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma. NCIT:C6784|UMLS:C1333190 http://purl.obolibrary.org/obo/MONDO_0021077 cystic neoplasm|cystic tumor MONDO:0008099 congenital stationary night blindness autosomal dominant 2 biolink:Disease mondo OMIM:163500|MESH:C566869|UMLS:C1876182|DOID:0110863 Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene. http://identifiers.org/omim/163500|UMLS:C1876182|MESH:C566869|DOID:0110863 http://purl.obolibrary.org/obo/MONDO_0008099 night blindness, congenital stationary, autosomal dominant 2|congenital stationary night blindness caused by mutation in PDE6B|CSNBAD2|Rambusch type congenital stationary night blindness|night blindness, congenital stationary, Rambusch type|night blindness, congenital stationary, autosomal dominant type 2|night blindness, congenital stationary, autosomal dominant 2; CSNBAD2|congenital stationary night blindness autosomal dominant type 2|PDE6B congenital stationary night blindness MONDO:0021076 pancreatic exocrine neoplasm biolink:Disease mondo NCIT:C4445|ICD9:235.5|SCTID:254604005|UMLS:C0345920 A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. UMLS:C0345920|SNOMEDCT:254604005|NCIT:C4445 http://purl.obolibrary.org/obo/MONDO_0021076 pancreatic exocrine neoplasm|tumor of exocrine pancreas|neoplasm of the exocrine pancreas|exocrine pancreas neoplasm (disease)|exocrine pancreas neoplasm|neoplasm of exocrine pancreas|exocrine pancreas tumor|tumor of the exocrine pancreas|pancreatic exocrine tumor MONDO:0008097 linear nevus sebaceus syndrome biolink:Disease mondo ICD10:Q85.8|GARD:0010291|NCIT:C4678|OMIM:163200|Orphanet:2612 Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement). NCIT:C4678|ORPHA:2612|http://identifiers.org/omim/163200 http://purl.obolibrary.org/obo/MONDO_0008097 Sfm syndrome|SFM syndrome|SFM|Nevus sebaceus syndrome|linear sebaceous Nevus syndrome|Nevus sebaceous of Jadassohn|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome; SFM|Schimmelpenning syndrome|linear nevus sebaceous syndrome|sebaceous Nevus syndrome, linear|organoid nevus syndrome|Jadassohn Nevus phakomatosis|Nevus sebaceus of Jadassohn|Jadassohn nevus phakomatosis|Epidermal Nevus syndrome, formerly|linear sebaceous Nevus|epidermal nevus syndrome|Schimmelpenning Feuerstein Mims syndrome|Solomon syndrome|JNP|organoid Nevus phakomatosis|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome|organoid nevus phakomatosis|sebaceous nevus syndrome linear|organoid Nevus gard_rare|ordo_disease GO:0015238 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0015238 FOODON:00001771 cow milk based food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001771 MONDO:0008098 mesomelic dwarfism, Nievergelt type biolink:Disease mondo GARD:0003554|MESH:C536120|Orphanet:2633|OMIM:163400|UMLS:C0432231|SCTID:33979003|ICD10:Q78.8 SNOMEDCT:33979003|ORPHA:2633|MESH:C536120|UMLS:C0432231|http://identifiers.org/omim/163400 http://purl.obolibrary.org/obo/MONDO_0008098 mesomelic dysplasia, Nievergelt type|Nievergelt syndrome|radioulnar synostosis and a typical rhomboid shape of the tibia and fibula|mesomelic dwarfism Nievergelt type ordo_malformation_syndrome MONDO:0008095 nevus anemicus (disease) biolink:Disease mondo NCIT:C3943|SCTID:40929003|OMIM:163050|ICD9:709.09|HP:0025105 A capillary vascular anomaly that is characterized by hypopigmented macules. NCIT:C3943|SNOMEDCT:40929003|http://identifiers.org/omim/163050 http://purl.obolibrary.org/obo/MONDO_0008095 Nevus anemicus|NEVUS anemicus|anemicus Nevus HGNC:10298 RPL10 biolink:OntologyClass mondo http://identifiers.org/hgnc/10298 MONDO:0008096 nevus flammeus of nape of neck biolink:Disease mondo OMIM:163100|MESH:C567524 MESH:C567524|http://identifiers.org/omim/163100 http://purl.obolibrary.org/obo/MONDO_0008096 erythema nuchae|Unna Nevus|nevus flammeus of nape of neck MONDO:0008093 nevus, epidermal biolink:Disease mondo OMIM:162900|DOID:0111162|NCIT:C4088|MESH:C580062|GARD:0013025 A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed. http://identifiers.org/omim/162900|DOID:0111162|MESH:C580062|NCIT:C4088 http://purl.obolibrary.org/obo/MONDO_0008093 Nevus, woolly hair|Nevus, Keratinocytic, nonepidermolytic|nevus, epidermal|Nevus sebaceous|nonepidermolytic keratinocytic nevus|Epidermal Nevus MONDO:0008094 familial multiple nevi flammei biolink:Disease mondo UMLS:CN205384|OMIM:163000|UMLS:C0235752|ICD10:Q82.5|Orphanet:624|NCIT:C3840|GARD:0003986|MedDRA:10067193|SCTID:416377005 A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. MEDDRA:10067193|NCIT:C3840|ORPHA:624|SNOMEDCT:416377005|MESH:D019339|UMLS:C0235752|http://identifiers.org/omim/163000|UMLS:CN205384 http://purl.obolibrary.org/obo/MONDO_0008094 port-wine stain of skin|nevi flammei, familial multiple|port wine stain|familial multiple port-wine stains|capillary malformations, congenital; CMC|CMC|Nevus flammeus|port-wine stain familial multiple|capillary malformations, congenital|capillary malformations|port wine Nevus|port-wine stain|port wine birthmark|port wine stain of skin|Salmon patch Nevus|port wine stain of the skin|port wine type hemangioma ordo_morphological_anomaly HP:0002514 Cerebral calcification biolink:PhenotypicFeature mondo SNOMEDCT_US:17944005|UMLS:C0270685 The presence of calcium deposition within brain structures. http://purl.obolibrary.org/obo/HP_0002514 Brain calcification|Intracerebral calcifications|Intracranial calcification|Abnormal deposits of calcium in the brain|Intracranial calcifications MONDO:0008091 abnormal neutrophil chemotactic response biolink:Disease mondo OMIM:162820 http://identifiers.org/omim/162820 http://purl.obolibrary.org/obo/MONDO_0008091 neutrophil chemotactic response|neutrophil migration|neutrophil migration; NM|NM MONDO:0008092 hereditary neutrophilia biolink:Disease mondo Orphanet:279943|OMIM:162830|SCTID:129639005|DOID:0090120|MESH:C563010|UMLS:C0543669|ICD10:D72.8 A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34. http://identifiers.org/omim/162830|UMLS:C0543669|ORPHA:279943|DOID:0090120|MESH:C563010|SNOMEDCT:129639005 http://purl.obolibrary.org/obo/MONDO_0008092 neutrophilia, hereditary ordo_disease MONDO:0008090 cyclic hematopoiesis biolink:Disease mondo MedDRA:10053176|DOID:5339|SCTID:191347008|NCIT:C3820|ICD10:D70|ICD10:D70.4|Orphanet:2686|GARD:0006229|MESH:C536227|COHD:432297|OMIM:162800|ICD9:288.02 A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. MEDDRA:10053176|NCIT:C3820|DOID:5339|ORPHA:2686|MESH:C536227|UMLS:C0221023|SNOMEDCT:191347008|http://identifiers.org/omim/162800 http://purl.obolibrary.org/obo/MONDO_0008090 neutropenia, periodic|neutropenia cyclic|cyclic neutropenia|CN|cyclic agranulocytosis|periodic neutropenia|dysplasia, myelocytic periodic|cyclical neutropenia|CH|cyclic hematopoiesis ordo_disease HGNC:10297 RPIA biolink:OntologyClass mondo http://identifiers.org/hgnc/10297 HGNC:10294 RPE65 biolink:OntologyClass mondo http://identifiers.org/hgnc/10294 HGNC:10295 RPGR biolink:OntologyClass mondo http://identifiers.org/hgnc/10295 MONDO:0021064 jugulotympanic paraganglioma biolink:Disease mondo GARD:0010599|ICD9:239.7|ICDO:8690/1|NCIT:C3061|UMLS:C0017671|SCTID:127030001 A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear. SNOMEDCT:127030001|NCIT:C3061|UMLS:C0017671 http://purl.obolibrary.org/obo/MONDO_0021064 Glomus tumor|Paraganglioma - glomus jugulare|neoplasm of the glomus jugulare|neoplasm of glomus jugulare|glomus jugulare tumor|jugulotympanic paraganglioma|parasympathetic paraganglioma of basicranium|basicranium parasympathetic paraganglioma|tumor of the glomus jugulare|tumor of glomus jugulare|jugular paraganglioma|glomus jugulare neoplasm gard_rare MONDO:0021063 malignant colon neoplasm biolink:Disease mondo DOID:219|COHD:4180790|ICD9:153|SCTID:363406005|ICD10:C18.9|ICD9:153.9|UMLS:C0007102|NCIT:C9242|ICD9:153.8|ICD10:C18 A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. NCIT:C9242|DOID:219|SNOMEDCT:363406005|UMLS:C0007102 http://purl.obolibrary.org/obo/MONDO_0021063 malignant neoplasm of colon|malignant neoplasm of the colon|malignant colonic neoplasm|malignant colon tumor|cancer of colon|colon tumor, malignant|malignant colon neoplasm|malignant tumor of the colon|malignant tumor of colon|malignant colonic tumor|colon neoplasm, malignant|colon cancer MONDO:0021062 obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary biolink:Disease mondo Orphanet:306539|UMLS:CN203514 UMLS:CN203514|ORPHA:306539|http://identifiers.org/omim/173650 http://purl.obolibrary.org/obo/MONDO_0021062 ordo_disease MONDO:0021061 neurofibromatosis biolink:Disease mondo ICD9:237.7|ICDO:9540/1|ICD10:Q85.02|ICD10:Q85.01|ICD10:Q85.00|UMLS:C0162678|DOID:8712|ICD9:237.70|GARD:0010420|ICD9:237.72|MESH:D017253|ICD9:237.71|NCIT:C6727|COHD:376938|SCTID:19133005 A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. SNOMEDCT:19133005|UMLS:C0162678|MESH:D017253|NCIT:C6727|DOID:8712 http://purl.obolibrary.org/obo/MONDO_0021061 neurofibromatosis type 1|neurofibromatosis|central Neurofibromatosis|neurofibromatosis type 4|acoustic neurofibromatosis|neurofibromatosis type IV|neurofibromatosis type 2|von Reklinghausen disease|Neurofibromatosis 1|Recklinghausen's neurofibromatosis|peripheral Neurofibromatosis|neurofibromatosis syndrome|type IV neurofibromatosis of riccardi NCBITaxon:768 Anaplasma organism taxon mondo PMID:11760958|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_768 MONDO:0021060 RASopathy biolink:Disease mondo Orphanet:536391|EFO:1001502 The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. ORPHA:536391 http://purl.obolibrary.org/obo/MONDO_0021060 disorder of Ras protein signal transduction|disorder of Ras protein signal transduction|Ras protein signal transduction disease ordo_group_of_disorders MONDO:0021069 malignant endocrine neoplasm biolink:Disease mondo ICD10:C75.9|DOID:170|MESH:D004701|NCIT:C3575|ICD9:194.9 A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. MESH:D004701|NCIT:C3575|DOID:170 http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine gland tumor|endocrine neoplasm|endocrine gland cancer|malignant endocrine neoplasm|malignant endocrine tumor|neoplasm of endocrine gland|malignant endocrine gland neoplasm|malignant tumor of the endocrine gland|malignant tumor of endocrine gland|malignant tumour of endocrine gland|cancer of endocrine gland|endocrine cancer, NOS|neoplasm of endocrine system|endocrine cancer|endocrine neoplasm, malignant|malignant neoplasm of endocrine gland|Endocrine tumor|malignant neoplasm of the endocrine gland MONDO:0021068 ovarian neoplasm biolink:Disease mondo NCIT:C4984|ICD9:239.5|SCTID:123843001|UMLS:CN236629 A benign, borderline, or malignant neoplasm involving the ovary. NCIT:C4984|SNOMEDCT:123843001|UMLS:CN236629 http://purl.obolibrary.org/obo/MONDO_0021068 ovary neoplasm|ovarian tumor|neoplasm of ovary|ovary tumor|tumor of the ovary|ovarian neoplasm|ovary neoplasm (disease)|ovarian tumors|tumor of ovary|neoplasm of the ovary MONDO:0021067 mediastinal germ cell tumor biolink:Disease mondo NCIT:C6437|UMLS:C1334655 A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor. UMLS:C1334655|NCIT:C6437 http://purl.obolibrary.org/obo/MONDO_0021067 mediastinal germ cell tumor|germ cell neoplasm of the mediastinum|germ cell neoplasm of mediastinum|thymic germ cell tumor|mediastinal germ cell neoplasm|mediastinum germ cell tumor|germ cell tumor of the mediastinum|germ cell tumor of mediastinum NCBITaxon:766 Rickettsiales organism taxon mondo PMID:11760958|GC_ID:11|PMID:8240958 http://purl.obolibrary.org/obo/NCBITaxon_766 alpha-1 proteobacteria|rickettsias MONDO:0021066 urinary system neoplasm biolink:Disease mondo NCIT:C3431|ICD9:239.5|SCTID:126879004|ONCOTREE:BLADDER A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 NCIT:C3431|SNOMEDCT:126879004 http://purl.obolibrary.org/obo/MONDO_0021066 neoplasm of the urinary tract|neoplasm of urinary tract|neoplasm of urinary system|urinary tract tumor|tumor of renal system|urinary system tumor|neoplasm of the urinary system|renal system neoplasm|tumor of the urinary tract|tumor of urinary tract|neoplasm of renal system|tumor of urinary system|renal system tumor|tumor of the urinary system|urinary system neoplasm|renal system neoplasm (disease)|urinary tract neoplasm MONDO:0021065 pleural neoplasm biolink:Disease mondo NCIT:C3332|UMLS:C0032229|SCTID:126719004|ONCOTREE:PLEURA A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura. SNOMEDCT:126719004|UMLS:C0032229|NCIT:C3332 http://purl.obolibrary.org/obo/MONDO_0021065 pleura neoplasm (disease)|neoplasm of the pleura|pleural neoplasm|neoplasm of pleura|tumor of the pleura|pleura tumor|pleura neoplasm|pleural cavity neoplasm (disease)|pleural tumor|neoplasm of pleural cavity|pleural cavity tumor|tumor of pleura HP:0002524 Cataplexy biolink:PhenotypicFeature mondo MSH:D002385|SNOMEDCT_US:46263000|UMLS:C0007384 A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. http://purl.obolibrary.org/obo/HP_0002524 FOODON:00001785 crab food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001785 MONDO:0045020 glycine metabolism disease biolink:Disease mondo UMLS:C0268558|SCTID:83076007 A disease that has its basis in the disruption of glycine metabolic process. UMLS:C0268558|SNOMEDCT:83076007 http://purl.obolibrary.org/obo/MONDO_0045020 disorder of glycine metabolic process|disorder of glycine metabolic process|glycine metabolism disease|disorder of glycine metabolism|glycine metabolic process disease GO:0030857 negative regulation of epithelial cell differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation. http://purl.obolibrary.org/obo/GO_0030857 inhibition of epithelial cell differentiation|downregulation of epithelial cell differentiation|down-regulation of epithelial cell differentiation|down regulation of epithelial cell differentiation GO:0030858 positive regulation of epithelial cell differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation. http://purl.obolibrary.org/obo/GO_0030858 up-regulation of epithelial cell differentiation|up regulation of epithelial cell differentiation|activation of epithelial cell differentiation|stimulation of epithelial cell differentiation|upregulation of epithelial cell differentiation MONDO:0045022 disorder of organic acid metabolism biolink:Disease mondo ICD9:277.89|SCTID:116021002 A disease that has its basis in the disruption of organic acid metabolic process. SNOMEDCT:116021002 http://purl.obolibrary.org/obo/MONDO_0045022 organic acid metabolic process disease|disorder of organic acid metabolism|organic acid metabolism disorder|disorder of organic acid metabolic process|disorder of organic acid metabolic process GO:0030855 epithelial cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium. http://purl.obolibrary.org/obo/GO_0030855 NCBITaxon:779 Ehrlichia ruminantium organism taxon mondo PMID:11414267|PMID:11760958|GC_ID:11|PMID:1581187|PMID:1380292 http://purl.obolibrary.org/obo/NCBITaxon_779 Cowdria ruminantium|heartwater rickettsia|Rickettsia ruminantium|Nicollea ruminantium|Kurlovia ruminantium GO:0030856 regulation of epithelial cell differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of epithelial cell differentiation. http://purl.obolibrary.org/obo/GO_0030856 MONDO:0045021 obsolete sucrose intolerance disease biolink:Disease mondo ICD9:271.3|SCTID:190753003 SNOMEDCT:190753003 http://purl.obolibrary.org/obo/MONDO_0045021 sucrose intolerance GO:0030853 negative regulation of granulocyte differentiation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation. http://purl.obolibrary.org/obo/GO_0030853 inhibition of granulocyte differentiation|downregulation of granulocyte differentiation|down-regulation of granulocyte differentiation|down regulation of granulocyte differentiation GO:0030854 positive regulation of granulocyte differentiation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of granulocyte differentiation. http://purl.obolibrary.org/obo/GO_0030854 up-regulation of granulocyte differentiation|up regulation of granulocyte differentiation|activation of granulocyte differentiation|stimulation of granulocyte differentiation|upregulation of granulocyte differentiation GO:0030851 granulocyte differentiation biolink:OntologyClass mondo The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. http://purl.obolibrary.org/obo/GO_0030851 granulocyte cell differentiation GO:0030852 regulation of granulocyte differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of granulocyte differentiation. http://purl.obolibrary.org/obo/GO_0030852 MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills biolink:Disease mondo OMIM:617903 http://identifiers.org/omim/617903 http://purl.obolibrary.org/obo/MONDO_0060659 neurodevelopmental disorder with poor language and loss of hand skills; NDPLHS|NDPLHS NCBITaxon:774 Bartonella bacilliformis organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_774 Bartonia bacilliformis MONDO:0045028 radiation or chemically induced disorder biolink:Disease mondo A disease or disorder that is induced by either chemical or radiation exposure. http://purl.obolibrary.org/obo/MONDO_0045028 UBERON:0009906 root of optic nerve biolink:AnatomicalEntity mondo A nerve root that extends_fibers_into a nerve connecting eye with brain. http://purl.obolibrary.org/obo/UBERON_0009906 optic tract root|optic nerve root|root of optic tract NCBITaxon:773 Bartonella organism taxon mondo PMID:8863415|PMID:11837299|PMID:12508871|PMID:10425758|PMID:8240958|PMID:7857789|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_773 "Bartonia" Strong et al. 1913|Rocha-Limae|Grahmia|Rochalimaea|Grahamella MONDO:0045027 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0045027 NCBITaxon:772 Bartonellaceae organism taxon mondo PMID:8240958|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_772 Bartonella group MONDO:0045029 obsolete Deuteromycetes infectious disease biolink:Disease mondo SCTID:59258008 SNOMEDCT:59258008 http://purl.obolibrary.org/obo/MONDO_0045029 infection by Deuteromycetes|infection caused by Deuteromycetes MONDO:0045024 cell proliferation disorder biolink:Disease mondo Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. http://purl.obolibrary.org/obo/MONDO_0045024 NCBITaxon:777 Coxiella burnetii organism taxon mondo GC_ID:11|PMID:9226923 http://purl.obolibrary.org/obo/NCBITaxon_777 Rickettsia diaporica|Rickettsia burneti MONDO:0045023 acquired adrenogenital syndrome biolink:Disease mondo UMLS:C0237971|SCTID:190512008 An instance of adrenogenital syndrome that is acquired during the lifetime of the individual. SNOMEDCT:190512008|UMLS:C0237971 http://purl.obolibrary.org/obo/MONDO_0045023 acquired adrenogenital syndrome NCBITaxon:776 Coxiella organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_776 Burnetia|Coxiella NCBITaxon:775 Rickettsiaceae organism taxon mondo GC_ID:11|PMID:8240958|PMID:2592342|PMID:11760958 http://purl.obolibrary.org/obo/NCBITaxon_775 MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy biolink:Disease mondo Orphanet:527497|OMIM:617560|DOID:0080252|UMLS:C4479653 DOID:0080252|ORPHA:527497|UMLS:C4479653|http://identifiers.org/omim/617560 http://purl.obolibrary.org/obo/MONDO_0033043 spastic ataxia 8|spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy; SPAX8|SPAX8 ordo_disease HP:0002573 Hematochezia biolink:PhenotypicFeature mondo SNOMEDCT_US:236068001|SNOMEDCT_US:405729008|UMLS:C0018932|MSH:D006471 The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. http://purl.obolibrary.org/obo/HP_0002573 Rectal bleeding|Recurrent rectal bleeding UBERON:0009911 lobule biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009911 lobulus UBERON:0009912 anatomical lobe biolink:AnatomicalEntity mondo A portion of an organ, such as the liver, lung, breast, or brain. http://purl.obolibrary.org/obo/UBERON_0009912 lobus FOODON:00001792 crustacean food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001792 UBERON:0009913 renal lobe biolink:AnatomicalEntity mondo The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. http://purl.obolibrary.org/obo/UBERON_0009913 lobus renalis|lobi renalis|lobi renales|kidney lobe UBERON:0009914 renal lobule biolink:AnatomicalEntity mondo The portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys http://purl.obolibrary.org/obo/UBERON_0009914 renunculus|lobuli corticales renis|renal cortical lobule|cortical lobule of kidney|renculus|cortical lobule|reniculus|lobulus renalis|lobulus corticalis renalis|kidney lobule HP:0002577 Abnormal stomach morphology biolink:PhenotypicFeature mondo UMLS:C4025699 An abnormality of the stomach. http://purl.obolibrary.org/obo/HP_0002577 Abnormality of the stomach UBERON:0009916 wall of ureter biolink:AnatomicalEntity mondo An anatomical wall that is part of a ureter. http://purl.obolibrary.org/obo/UBERON_0009916 ureteral wall MONDO:0033046 Meier-Gorlin syndrome 8 biolink:Disease mondo UMLS:C4479655|DOID:0080255|OMIM:617564 DOID:0080255|UMLS:C4479655|http://identifiers.org/omim/617564 http://purl.obolibrary.org/obo/MONDO_0033046 MGORS8|Meier-Gorlin syndrome 8; MGORS8 HGNC:10274 RP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10274 MONDO:0033047 Perrault syndrome 6 biolink:Disease mondo UMLS:C4479656|DOID:0080256|OMIM:617565 DOID:0080256|UMLS:C4479656|http://identifiers.org/omim/617565 http://purl.obolibrary.org/obo/MONDO_0033047 Perrault syndrome 6; PRLTS6|PRLTS6 MONDO:0033044 Meckel syndrome 13 biolink:Disease mondo DOID:0080276|DOID:0080253|OMIM:617562 DOID:0080253|DOID:0080276|http://identifiers.org/omim/617562 http://purl.obolibrary.org/obo/MONDO_0033044 Joubert syndrome 29|Meckel syndrome 13; MKS13|MKS13|Meckel syndrome, type 13 MONDO:0033045 orofaciodigital syndrome 16 biolink:Disease mondo DOID:0080254|UMLS:CN317535|OMIM:617563 DOID:0080254|UMLS:CN317535|http://identifiers.org/omim/617563 http://purl.obolibrary.org/obo/MONDO_0033045 orofaciodigital syndrome XVI; OFD16|OFD16|orofaciodigital syndrome XVI|Ofds 16|oral-Facial-digital syndrome, type 16 MONDO:0045031 infectious diarrheal disease biolink:Disease mondo SCTID:19213003 SNOMEDCT:19213003 http://purl.obolibrary.org/obo/MONDO_0045031 infective diarrhea|infectious diarrhea|infectious diarrheal disease MONDO:0045030 non-infectious diarrheal disease biolink:Disease mondo SCTID:69980003|UMLS:C0267436 UMLS:C0267436|SNOMEDCT:69980003 http://purl.obolibrary.org/obo/MONDO_0045030 presumed non-infectious diarrhea|non-infective diarrhea MONDO:0045033 opportunistic systemic mycosis biolink:Disease mondo A mycosis that arises from infection in an immunologically compromised host and is systemic. http://purl.obolibrary.org/obo/MONDO_0045033 MONDO:0045032 congenital secretory diarrhea biolink:Disease mondo UMLS:C0267661|ICD9:579.8|SCTID:25898005 SNOMEDCT:25898005|UMLS:C0267661 http://purl.obolibrary.org/obo/MONDO_0045032 congenital secretory diarrhea MONDO:0060649 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies biolink:Disease mondo UMLS:CN807949|OMIM:617877 UMLS:CN807949|http://identifiers.org/omim/617877 http://purl.obolibrary.org/obo/MONDO_0060649 SSFSC|short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies; SSFSC MONDO:0045039 systemic basidiobolomycosis biolink:Disease mondo SCTID:240787008|UMLS:C0343967 UMLS:C0343967|SNOMEDCT:240787008 http://purl.obolibrary.org/obo/MONDO_0045039 disseminated basidiobolomycosis NCBITaxon:785 Rickettsia typhi organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_785 Dermacentroxenus typhi|Rickettsia mooseri NCBITaxon:784 Orientia tsutsugamushi organism taxon mondo PMID:1906730|PMID:8590688|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_784 Rickettsia tsutsugamushi|Rickettsia orientalis|Rickettsia akamushi|Theileria tsutsugamushi MONDO:0045038 cutaneous basidiobolomycosis biolink:Disease mondo SCTID:240786004|UMLS:C0343966 UMLS:C0343966|SNOMEDCT:240786004 http://purl.obolibrary.org/obo/MONDO_0045038 NCBITaxon:136841 Pseudomonas aeruginosa group organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_136841 NCBITaxon:783 Rickettsia rickettsii organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_783 Dermacentroxenus rickettsii NCBITaxon:782 Rickettsia prowazekii organism taxon mondo PMID:15879256|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_782 MONDO:0045035 opportunistic infectious biolink:Disease mondo A characteristic of an infectious disease in which the disease affects an immunologically compromised host. http://purl.obolibrary.org/obo/MONDO_0045035 MONDO:0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features biolink:Disease mondo OMIM:617865|UMLS:CN800196 UMLS:CN800196|http://identifiers.org/omim/617865 http://purl.obolibrary.org/obo/MONDO_0060642 NEDMAGA|neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features; NEDMAGA MONDO:0045034 infectious disease characteristic biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0045034 NCBITaxon:787 Rickettsia australis organism taxon mondo PMID:11034486|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_787 MONDO:0045037 hyalohyphomycosis biolink:Disease mondo UMLS:C0343952|MESH:D060605|SCTID:240773008 An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host. MESH:D060605|UMLS:C0343952|SNOMEDCT:240773008 http://purl.obolibrary.org/obo/MONDO_0045037 hyalohyphomycosis MONDO:0060641 neurodevelopmental disorder with or without seizures and gait abnormalities biolink:Disease mondo OMIM:617864|UMLS:CN800195 UMLS:CN800195|http://identifiers.org/omim/617864 http://purl.obolibrary.org/obo/MONDO_0060641 neurodevelopmental disorder with or without seizures and gait abnormalities; NEDSGA|NEDSGA NCBITaxon:786 Rickettsia akari organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_786 Dermacentroxenus murinus|rickettsialpox|agent of rickettsialpox|Gamasoxenus muris MONDO:0045036 primary infectious biolink:Disease mondo A characteristic of an infectious disease in which the disease affects an immunologically normal host. http://purl.obolibrary.org/obo/MONDO_0045036 GO:0030849 autosome biolink:OntologyClass mondo Any chromosome other than a sex chromosome. http://purl.obolibrary.org/obo/GO_0030849 MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy biolink:Disease mondo OMIM:617862|UMLS:CN787271 http://identifiers.org/omim/617862|UMLS:CN787271 http://purl.obolibrary.org/obo/MONDO_0060640 NEDMEBA|neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy; NEDMEBA MONDO:0060650 Leber congenital amaurosis with early-onset deafness biolink:Disease mondo OMIM:617879|UMLS:CN807950 http://identifiers.org/omim/617879|UMLS:CN807950 http://purl.obolibrary.org/obo/MONDO_0060650 LCAEOD|Leber congenital amaurosis with early-onset deafness; LCAEOD HP:0002584 Intestinal bleeding biolink:PhenotypicFeature mondo SNOMEDCT_US:712510007|UMLS:C0267373 Bleeding from the intestines. http://purl.obolibrary.org/obo/HP_0002584 Intestinal hemorrhage|Intestinal bleeding HGNC:10288 RP9 biolink:OntologyClass mondo http://identifiers.org/hgnc/10288 NCBITaxon:781 Rickettsia conorii organism taxon mondo PMID:15766388|PMID:15879256|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_781 NCBITaxon:780 Rickettsia organism taxon mondo PMID:9103608|PMID:14662925|PMID:10939649|GC_ID:11|PMID:11491333 http://purl.obolibrary.org/obo/NCBITaxon_780 MONDO:0045042 restricted to specific location biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0045042 localized MONDO:0045044 ligament disease biolink:Disease mondo SCTID:60492000|UMLS:C0263976 A disease or disorder that involves the ligament. UMLS:C0263976|SNOMEDCT:60492000 http://purl.obolibrary.org/obo/MONDO_0045044 ligament disease or disorder|disorder of ligament|disease of ligament|disorder of ligament|disease or disorder of ligament MONDO:0045043 disease of uterine broad ligament biolink:Disease mondo UMLS:C0404479|SCTID:237062006 A disease or disorder that involves the broad ligament of uterus. UMLS:C0404479|SNOMEDCT:237062006 http://purl.obolibrary.org/obo/MONDO_0045043 broad ligament of uterus disease or disorder|broad ligament of uterus disease|disorder of broad ligament of uterus|disorder of broad ligament|disease of broad ligament of uterus|disease or disorder of broad ligament of uterus|disorder of broad ligament of uterus OBO:mondo#disease_shares_features_of disease shares features of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#disease_shares_features_of MONDO:0045040 locational disease characteristic biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0045040 MONDO:0045049 hypermature cataract biolink:Disease mondo ICD9:366.18|SCTID:267626000 SNOMEDCT:267626000 http://purl.obolibrary.org/obo/MONDO_0045049 hypermature cataract MONDO:0060677 chromosome 1p35 deletion syndrome biolink:Disease mondo UMLS:CN244562|OMIM:617930 http://identifiers.org/omim/617930|UMLS:CN244562 http://purl.obolibrary.org/obo/MONDO_0060677 chromosome 1p35 deletion syndrome MONDO:0045046 inherited thyroid metabolism disease biolink:Disease mondo ICD9:246.8|UMLS:C0271824|SCTID:36985004 An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process. UMLS:C0271824|SNOMEDCT:36985004 http://purl.obolibrary.org/obo/MONDO_0045046 inborn thyroid hormone metabolic process disorder|rare inborn error of thyroid hormone metabolic process|inborn error of thyroid hormone metabolic process|inherited disorder of thyroid metabolism|rare inborn error of thyroid hormone metabolic process MONDO:0045045 selective IgG immunodeficiency biolink:Disease mondo UMLS:C0162539|SCTID:12631000119106|NCIT:C27142|GARD:0010371 A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity. UMLS:C0162539|SNOMEDCT:12631000119106|NCIT:C27142 http://purl.obolibrary.org/obo/MONDO_0045045 selective IgG immunodeficiency|IgG deficiency|IgG subclass deficiency MONDO:0045048 toxemia of pregnancy biolink:Disease mondo NCIT:C34943 A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. NCIT:C34943 http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy HGNC:24891 DCAF8 biolink:OntologyClass mondo http://identifiers.org/hgnc/24891 MONDO:0045047 neurosarcoidosis biolink:Disease mondo MESH:C535814|SCTID:230193008|UMLS:C0393485 A sarcoidosis that involves the nervous system. MESH:C535814|SNOMEDCT:230193008|UMLS:C0393485 http://purl.obolibrary.org/obo/MONDO_0045047 sarcoidosis of nervous system|neurosarcoidosis|nervous system sarcoidosis HGNC:10257 ROR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10257 HGNC:10254 ROM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10254 HGNC:10250 ROBO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10250 MONDO:0045053 osteogenic neoplasm biolink:Disease mondo NCIT:C6603 A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma. NCIT:C6603 http://purl.obolibrary.org/obo/MONDO_0045053 osteogenic neoplasm|osseous tumor|osseous neoplasm|osteogenic tumor MONDO:0045052 benign osteogenic neoplasm biolink:Disease mondo NCIT:C6602 A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma. NCIT:C6602 http://purl.obolibrary.org/obo/MONDO_0045052 benign osteogenic tumor|osteogenic neoplasm, benign|benign osteogenic neoplasm|benign osseous neoplasm|benign osseous tumor MONDO:0045055 glycogen-rich carcinoma biolink:Disease mondo NCIT:C4153 A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma. NCIT:C4153 http://purl.obolibrary.org/obo/MONDO_0045055 Glycogen-rich carcinoma MONDO:0045054 cancer-related condition biolink:Disease mondo NCIT:C8278|UMLS:C0280950 A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). NCIT:C8278|UMLS:C0280950 http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related problem or condition|problem/condition, cancer-related|problem/condition, cancer related|cancer-related condition|oncologic complications|cancer related problem/condition GO:0005886 plasma membrane biolink:OntologyClass mondo The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://purl.obolibrary.org/obo/GO_0005886 plasma membrane lipid bilayer|bacterial inner membrane|cytoplasmic membrane|cellular membrane|plasmalemma|juxtamembrane|inner endospore membrane|cell membrane GO:0005887 integral component of plasma membrane biolink:OntologyClass mondo The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/GO_0005887 integral to plasma membrane MONDO:0045051 cortical cataract biolink:Disease mondo ICD9:366.03|SCTID:193576003 A cataract (disease) that involves the lens cortex. SNOMEDCT:193576003 http://purl.obolibrary.org/obo/MONDO_0045051 lens cortex cataract (disease)|cataract (disease) of lens cortex MONDO:0045050 nuclear cataract biolink:Disease mondo ICD9:366.04|HP:0100018|SCTID:53889007 A cataract (disease) that involves the lens nucleus. SNOMEDCT:53889007 http://purl.obolibrary.org/obo/MONDO_0045050 cataract (disease) of lens nucleus|lens nucleus cataract (disease) MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome biolink:Disease mondo OMIM:617915|UMLS:CN895589 http://identifiers.org/omim/617915|UMLS:CN895589 http://purl.obolibrary.org/obo/MONDO_0060666 HADDTS|hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome; HADDTS MONDO:0045057 delirium biolink:Disease mondo MESH:D003693|SCTID:2776000|UMLS:C0011206|EFO:0009267|ICD9:293.0 A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2) UMLS:C0011206|SNOMEDCT:2776000|MESH:D003693 http://purl.obolibrary.org/obo/MONDO_0045057 OBS syndrome|organic brain syndrome MONDO:0045056 grade II meningioma biolink:Disease mondo UMLS:C1512259|NCIT:C38937 An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma. UMLS:C1512259|NCIT:C38937 http://purl.obolibrary.org/obo/MONDO_0045056 grade 2 meningioma|grade II meningioma|WHO grade II meningioma MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities biolink:Disease mondo UMLS:CN889218|OMIM:617913 http://identifiers.org/omim/617913|UMLS:CN889218 http://purl.obolibrary.org/obo/MONDO_0060664 NEDMCR|neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities; NEDMCR MONDO:0060663 congenital heart defects, multiple types, 5 biolink:Disease mondo OMIM:617912|UMLS:CN873437 UMLS:CN873437|http://identifiers.org/omim/617912 http://purl.obolibrary.org/obo/MONDO_0060663 CHTD5|CONGENITAL heart defects, multiple types, 5; CHTD5 MONDO:0045059 cribriform carcinoma of breast biolink:Disease mondo DOID:5675 DOID:5675 http://purl.obolibrary.org/obo/MONDO_0045059 cribriform carcinoma|ductal carcinoma, cribriform type MONDO:0060662 Diamond-Blackfan anemia-like biolink:Disease mondo OMIM:617911|UMLS:CN873436 UMLS:CN873436|http://identifiers.org/omim/617911 http://purl.obolibrary.org/obo/MONDO_0060662 Diamond-Blackfan anemia-like; DBAL|DBAL MONDO:0045058 ACTH-producing pituitary gland neoplasm biolink:Disease mondo UMLS:C0278862|NCIT:C7909 An adenoma or carcinoma of the pituitary gland that produces corticotropin. UMLS:C0278862|NCIT:C7909 http://purl.obolibrary.org/obo/MONDO_0045058 adrenocorticotropin secreting tumor of the pituitary|adrenocorticotropin secreting tumor of pituitary|corticotropin secreting pituitary gland neoplasm|adrenocorticotropin producing pituitary gland tumor|ACTH-secreting tumor of the pituitary|ACTH-secreting tumor of pituitary|pituitary corticotropin secreting tumor|ACTH producing pituitary gland neoplasm|ACTH-producing pituitary neoplasm|ACTH-producing pituitary gland neoplasm|adrenocorticotropin secreting neoplasm of the pituitary|adrenocorticotropin secreting pituitary gland tumor|adrenocorticotropin secreting neoplasm of pituitary|ACTH-producing pituitary tumor|pituitary corticotropin secreting neoplasm MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 biolink:Disease mondo OMIM:617924 http://identifiers.org/omim/617924 http://purl.obolibrary.org/obo/MONDO_0060671 EJM10|epilepsy, juvenile myoclonic, susceptibility to, 10; EJM10 predisposition MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 biolink:Disease mondo UMLS:CN895594|OMIM:617921 http://identifiers.org/omim/617921|UMLS:CN895594 http://purl.obolibrary.org/obo/MONDO_0060670 amyotrophic lateral sclerosis, susceptibility to, 25; ALS25|ALS25 predisposition HGNC:10260 RORC biolink:OntologyClass mondo http://identifiers.org/hgnc/10260 HGNC:10263 RP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10263 MONDO:0023551 C1q nephropathy biolink:Disease mondo UMLS:C0403434|GARD:0012136|SCTID:236412002 C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. SNOMEDCT:236412002|UMLS:C0403434 http://purl.obolibrary.org/obo/MONDO_0023551 C1q nephropathy gard_rare MONDO:0023554 acquired testicular failure biolink:Disease mondo NCIT:C131091|UMLS:C0403818|SCTID:236811002 Testicular failure, the cause of which is not present at birth. SNOMEDCT:236811002|UMLS:C0403818|NCIT:C131091 http://purl.obolibrary.org/obo/MONDO_0023554 Acquired Testicular Failure|acquired testicular failure|Acquired testicular failure MONDO:0023557 infective vaginitis biolink:Disease mondo NCIT:C84353|SCTID:237091009|UMLS:C0404521 An infectious process affecting the vagina. Symptoms include pain and purulent discharge. NCIT:C84353|SNOMEDCT:237091009|UMLS:C0404521 http://purl.obolibrary.org/obo/MONDO_0023557 PV - Vaginal infection|Vaginal infection|vaginal infection|Infective vaginitis|Vaginal Infection MONDO:0023558 Kocher-debre-Semelaigne syndrome biolink:Disease mondo MESH:C537211|GARD:0008270 MESH:C537211 http://purl.obolibrary.org/obo/MONDO_0023558 association of muscular pseudohypertrophy and hypothyroidism in children|Kocher debre Semelaigne disease gard_rare MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 biolink:Disease mondo ICD10:G60.0|GARD:0008548|OMIM:605588|MESH:C537990|DOID:0110156|SCTID:725048002|Orphanet:98856|UMLS:C1854154 Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. UMLS:C1854154|DOID:0110156|http://identifiers.org/omim/605588|SNOMEDCT:725048002|MESH:C537990|ORPHA:98856 http://purl.obolibrary.org/obo/MONDO_0011569 LMNA Charcot-Marie-Tooth disease type 2|AR-CMT2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1|Charcot-Marie-Tooth disease, axonal, type 2B1|autosomal recessive axonal CMT4C1|Charcot-Marie-Tooth neuropathy, type 2B1|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1|autosomal recessive Charcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth disease neuronal type 2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1|Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA|CMT 2B1|Charcot Marie Tooth disease type 2B1|CMT2B1|Charcot-Marie-Tooth disease, neuronal, type 2B1|Charcot-Marie-Tooth disease, axonal, type 2B1; CMT2B1|Charcot-Marie-Tooth neuropathy type 2B1 ordo_disease|gard_rare MONDO:0011573 PSORS7 biolink:Disease mondo OMIM:605606 http://identifiers.org/omim/605606 http://purl.obolibrary.org/obo/MONDO_0011573 PSORS7|psoriasis 7, susceptibility to; PSORS7|psoriasis 7, susceptibility to MONDO:0011572 type 1 diabetes mellitus 18 biolink:Disease mondo MESH:C565315|ICD10:E10|OMIM:605598|DOID:0110755|UMLS:C1854125 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1. MESH:C565315|UMLS:C1854125|http://identifiers.org/omim/605598|DOID:0110755 http://purl.obolibrary.org/obo/MONDO_0011572 diabetes mellitus, insulin-dependent, 18; IDDM18|IDDM18|diabetes mellitus, insulin-dependent, 18|insulin-dependent diabetes mellitus 18 HGNC:3087 DVL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3087 MONDO:0011575 cerebrooculonasal syndrome biolink:Disease mondo Orphanet:66625|UMLS:C1854108|GARD:0003480|OMIM:605627|ICD10:Q87.0|MESH:C565313|SCTID:720855003 Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. ORPHA:66625|MESH:C565313|UMLS:C1854108|http://identifiers.org/omim/605627|SNOMEDCT:720855003 http://purl.obolibrary.org/obo/MONDO_0011575 cerebrooculonasal syndrome gard_rare|ordo_malformation_syndrome MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive biolink:Disease mondo UMLS:C1854119|OMIM:605618|MESH:C565314 MESH:C565314|UMLS:C1854119|http://identifiers.org/omim/605618 http://purl.obolibrary.org/obo/MONDO_0011574 tetralogy of fallot syndrome, autosomal recessive MONDO:0011577 myopathy, proximal, and ophthalmoplegia biolink:Disease mondo UMLS:C1854106|OMIM:605637|MESH:C565311 MESH:C565311|UMLS:C1854106|http://identifiers.org/omim/605637 http://purl.obolibrary.org/obo/MONDO_0011577 inclusion body myopathy 3, autosomal dominant|myopathy, proximal, and ophthalmoplegia|myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|MYOPATHY, proximal, and ophthalmoplegia; MYPOP|MYPOP|inclusion body myopathy 3, autosomal dominant, formerly HGNC:3084 DVL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3084 MONDO:0011576 familial hyperaldosteronism type II biolink:Disease mondo UMLS:C3839212|Orphanet:404|OMIM:605635|UMLS:C1854107|MESH:C565312|SCTID:703233008|ICD10:E26.0|GARD:0002789 Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism. ORPHA:404|MESH:C565312|UMLS:C3839212|UMLS:C1854107|SNOMEDCT:703233008|http://identifiers.org/omim/605635 http://purl.obolibrary.org/obo/MONDO_0011576 HALD2|hyperaldosteronism, familial, type II; HALD2|FH-II|familial adrenal adenoma|familial hyperaldosteronism type 2|hyperaldosteronism, familial, type II|FH2|FHII|FH 2 ordo_disease MONDO:0011579 late-onset retinal degeneration biolink:Disease mondo UMLS:C1854065|MESH:C565309|GARD:0004357|DOID:0060869|OMIM:605670|SCTID:719431007|Orphanet:67042 Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. http://identifiers.org/omim/605670|DOID:0060869|SNOMEDCT:719431007|MESH:C565309|ORPHA:67042|UMLS:C1854065 http://purl.obolibrary.org/obo/MONDO_0011579 late-onset retinal degeneration|late-onset retinal degeneration; LORD|LORD|pigmentary retinopathy|retinal Degeneration, late-onset, autosomal dominant|autosomal dominant late-onset retinal degeneration ordo_disease MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia biolink:Disease mondo SCTID:717734005|UMLS:C1854104|Orphanet:97290|ICD10:C64|OMIM:605642|ICD10:C73|MESH:C565310 Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). http://identifiers.org/omim/605642|SNOMEDCT:717734005|MESH:C565310|ORPHA:97290|UMLS:C1854104 http://purl.obolibrary.org/obo/MONDO_0011578 Ptcprn|thyroid carcinoma, papillary, with papillary renal neoplasia|Prn1|ptc-RCC ordo_disease MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 biolink:Disease mondo OMIM:605594|MESH:C565316|UMLS:C1854146 MESH:C565316|UMLS:C1854146|http://identifiers.org/omim/605594 http://purl.obolibrary.org/obo/MONDO_0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1|deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1|Dgi1/Dfna39 syndrome|Dfna39/Dgi1 syndrome|Dfna39/dentinogenesis imperfecta 1 syndrome MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 biolink:Disease mondo ICD10:G60.0|GARD:0001249|SCTID:719981005|Orphanet:101101|UMLS:C1854150|OMIM:605589|MESH:C537991|DOID:0110179 Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. MESH:C537991|DOID:0110179|UMLS:C1854150|http://identifiers.org/omim/605589|ORPHA:101101|SNOMEDCT:719981005 http://purl.obolibrary.org/obo/MONDO_0011570 CMT2B2|Charcot-Marie-Tooth disease neuronal type 2B2|Charcot-Marie-Tooth disease, axonal, type 2B2|MED25 Charcot-Marie-Tooth disease type 2|Arcmt2B|ARCMT2B|Charcot-Marie-Tooth disease, axonal, type 2B2; CMT2B2|Charcot-Marie-Tooth disease, neuronal, type 2B2|Charcot Marie Tooth disease type 2B2|CMT 2B2|Charcot-Marie-Tooth neuropathy type 2B2|autosomal recessive axonal CMT4C3|Charcot-Marie-Tooth disease type 2 caused by mutation in MED25|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2|AR-CMT2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2|Charcot-Marie-Tooth neuropathy, type 2B2 ordo_disease|gard_rare MONDO:0023540 Kashani-Strom-Utley syndrome biolink:Disease mondo MESH:C537010|GARD:0000191|UMLS:C2931392|Orphanet:1137 UMLS:C2931392|MESH:C537010|ORPHA:1137 http://purl.obolibrary.org/obo/MONDO_0023540 pulmonary aortic stenosis obstructive uropathy|Kashani Strom Utley syndrome|hypoplastic pulmonary arteries and aorta with obstructive uropathy gard_rare MONDO:0023541 Kasznica-Carlson-Coppedge syndrome biolink:Disease mondo MESH:C537011|UMLS:C2931393|GARD:0003080 UMLS:C2931393|MESH:C537011 http://purl.obolibrary.org/obo/MONDO_0023541 ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery|ectrodactyly spina bifida cardiopathy|Kasznica Carlson Coppedge syndrome gard_rare MONDO:0023543 Katsantoni-Papadakou-Lagoyanni syndrome biolink:Disease mondo MESH:C537012|UMLS:C2931394|GARD:0003081 UMLS:C2931394|MESH:C537012 http://purl.obolibrary.org/obo/MONDO_0023543 Katsantoni Papadakou Lagoyanni syndrome|Trichodermal syndrome and mental retardation|Trichodermal syndrome and intellectual disability gard_rare NCBITaxon:317865 Rickettsia conorii subsp. indica organism taxon mondo PMID:15766388|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_317865 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 biolink:Disease mondo ICD10:K83.1|DOID:0070232|GARD:10029|OMIM:605479|Orphanet:99961|ORDO:99961|GARD:0010029|MESH:C535934 http://identifiers.org/omim/605479|MESH:C535934|MESH:C535931|UMLS:C2608083|DOID:0070232|ORPHA:99961 http://purl.obolibrary.org/obo/MONDO_0011559 Bric type 2|mild ABCB11 deficiency|cholestasis, benign recurrent intrahepatic, 2|recurrent familial intrahepatic cholestasis 2|BRIC2|benign recurrent intrahepatic cholestasis 2|cholestasis, benign recurrent intrahepatic 2|cholestasis, benign recurrent intrahepatic, type 2|cholestasis, benign recurrent intrahepatic, 2; BRIC2 ordo_clinical_subtype|gard_rare HGNC:3091 DYRK1A biolink:OntologyClass mondo http://identifiers.org/hgnc/3091 MONDO:0011558 Usher syndrome type 2C biolink:Disease mondo OMIM:605472|ICD10:H35.5|GARD:0008497|MESH:C536492|DOID:0110839|NCIT:C153174 A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner. MESH:C536492|http://identifiers.org/omim/605472|DOID:0110839|NCIT:C153174 http://purl.obolibrary.org/obo/MONDO_0011558 Usher syndrome, type IIc, Gpr98/Pdzd7, digenic|USH2C|Usher syndrome, type IIb, formerly|USHER syndrome, type IIC; USH2C|Usher syndrome type IIC|Usher syndrome, type IIb|Usher syndrome, type 2C|USHER syndrome, type IIC gard_rare MONDO:0011562 autosomal dominant Parkinson disease 4 biolink:Disease mondo UMLS:C1854182|OMIM:605543|MESH:C565324|DOID:0060895|ICD10:G20 A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. DOID:0060895|MESH:C565324|UMLS:C1854182|http://identifiers.org/omim/605543 http://purl.obolibrary.org/obo/MONDO_0011562 autosomal dominant Parkinson's disease 4|autosomal dominant Lewy body Parkinson disease 4|Parkinson disease 4, autosomal dominant; PARK4|autosomal dominant Parkinson disease type 4|Parkinson disease 4, autosomal dominant|Parkinson disease 4, autosomal dominant Lewy body|PARK4 MONDO:0011561 Alzheimer disease 6 biolink:Disease mondo ICD10:G30|MESH:C565325|OMIM:605526|DOID:0110038 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. MESH:C565325|DOID:0110038|http://identifiers.org/omim/605526 http://purl.obolibrary.org/obo/MONDO_0011561 plasma Beta-amyloid-42 level quantitative trait locus|Alzheimer disease type 6|Alzheimer disease 6, late-onset|Alzheimer disease 6|AD6|Alzheimer's disease type 6|AD6|Alzheimer disease 6, late onset|Alzheimer's disease 6 HGNC:3098 TOR1A biolink:OntologyClass mondo http://identifiers.org/hgnc/3098 MONDO:0011564 cone-rod dystrophy 8 biolink:Disease mondo UMLS:C1854180|DOID:0111014|OMIM:605549|MESH:C565322 A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24. http://identifiers.org/omim/605549|DOID:0111014|MESH:C565322|UMLS:C1854180 http://purl.obolibrary.org/obo/MONDO_0011564 CORD8|cone-rod dystrophy 8; CORD8|cone-rod dystrophy 8|cone-rod dystrophy type 8 HGNC:3097 DYSF biolink:OntologyClass mondo http://identifiers.org/hgnc/3097 MONDO:0011563 GINGF2 biolink:Disease mondo GARD:0002474|MESH:C565323|OMIM:605544 MESH:C565323|http://identifiers.org/omim/605544 http://purl.obolibrary.org/obo/MONDO_0011563 gingival fibromatosis, 2|fibromatosis, gingival, 2|fibromatosis, gingival, hereditary, 2|GGF2|hereditary gingival fibromatosis, 2|HGF2|GINGF2|fibromatosis gingival, hereditary, 2|fibromatosis, gingival, 2; GINGF2 MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 biolink:Disease mondo OMIM:605572 http://identifiers.org/omim/605572 http://purl.obolibrary.org/obo/MONDO_0011566 Aoms2|abdominal obesity-metabolic syndrome quantitative trait locus type 2|abdominal obesity-metabolic syndrome quantitative trait locus 2 MONDO:0011565 metabolic syndrome X biolink:Disease mondo ICD9:277.7|COHD:436940|GARD:0009226|DOID:14221|OMIM:605552|UMLS:C0524620|MESH:D024821|SCTID:237602007|ICD10:E88.81 MESH:D024821|http://identifiers.org/omim/605552|DOID:14221|UMLS:C0524620|SNOMEDCT:237602007 http://purl.obolibrary.org/obo/MONDO_0011565 abdominal obesity-metabolic syndrome 1; AOMS1|metabolic syndrome, protection against|abdominal obesity-metabolic syndrome quantitative trait locus 1|dysmetabolic syndrome X|metabolic syndrome type X|metabolic syndrome 10|abdominal obesity-metabolic syndrome 1|abdominal obesity metabolic syndrome|AOMS1 MONDO:0011568 autosomal dominant nonsyndromic deafness 25 biolink:Disease mondo DOID:0110555|MESH:C565319|OMIM:605583|ICD10:H90.3|UMLS:C1854158 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene. UMLS:C1854158|http://identifiers.org/omim/605583|DOID:0110555|MESH:C565319 http://purl.obolibrary.org/obo/MONDO_0011568 autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8|deafness, autosomal dominant 25; DFNA25|deafness, autosomal dominant 25|autosomal dominant nonsyndromic deafness type 25|autosomal dominant deafness 25|deafness, autosomal dominant type 25|SLC17A8 autosomal dominant nonsyndromic deafness|DFNA25 MONDO:0011567 dilated cardiomyopathy 1K biolink:Disease mondo MESH:C565320|ICD10:I42.0|OMIM:605582|UMLS:C1854159|DOID:0110437 A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16. DOID:0110437|http://identifiers.org/omim/605582|MESH:C565320|UMLS:C1854159 http://purl.obolibrary.org/obo/MONDO_0011567 cardiomyopathy, dilated, 1K|cardiomyopathy, dilated, 1K; CMD1K|CMD1K|dilated cardiomyopathy type 1K HGNC:3092 DYRK1B biolink:OntologyClass mondo http://identifiers.org/hgnc/3092 MONDO:0023538 Kaplowitz-Bodurtha syndrome biolink:Disease mondo UMLS:C2931361|MESH:C536893 MESH:C536893|UMLS:C2931361 http://purl.obolibrary.org/obo/MONDO_0023538 congenital hypopituitarism and microphthalmia|hypopituitarism microphthalmia MONDO:0023539 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023539 HGNC:10360 RPL5 biolink:OntologyClass mondo http://identifiers.org/hgnc/10360 MONDO:0011560 systemic lupus erythematosus, susceptibility to, 3 biolink:Disease mondo OMIM:605480 http://identifiers.org/omim/605480 http://purl.obolibrary.org/obo/MONDO_0011560 systemic lupus erythematosus, susceptibility to, 3; SLEB3|systemic lupus erythematosus, susceptibility to, 3|SLEB3 predisposition MONDO:0023530 kallikrein hypertension biolink:Disease mondo MESH:C537707|UMLS:C1171349|HGNC:6357|GARD:0006811 UMLS:C1171349|MESH:C537707 http://purl.obolibrary.org/obo/MONDO_0023530 kallikrein attenuated hypertension gard_rare MONDO:0011548 cerebral palsy, ataxic, autosomal recessive biolink:Disease mondo GARD:0010451|OMIM:605388|ICD9:343.8 http://identifiers.org/omim/605388 http://purl.obolibrary.org/obo/MONDO_0011548 cerebral palsy ataxic|Acp|ataxic cerebral palsy|cerebral palsy, ataxic, autosomal recessive gard_rare MONDO:0011547 cataract 31 multiple types biolink:Disease mondo MESH:C535343|ICD10:Q12.0|DOID:0110265|OMIM:605387|GARD:0010227 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene. MESH:C535343|DOID:0110265|http://identifiers.org/omim/605387 http://purl.obolibrary.org/obo/MONDO_0011547 cataract, posterior polar, 3|CTPP3|CPP3|posterior polar cataract 3|early-onset non-syndromic cataract caused by mutation in CHMP4B|CHMP4B early-onset non-syndromic cataract|cataract 31, multiple types; CTRCT31|CTRCT31|cataract 31, multiple types MONDO:0011549 hypotrichosis 1 biolink:Disease mondo OMIM:605389|DOID:0110698 Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene. http://identifiers.org/omim/605389|DOID:0110698 http://purl.obolibrary.org/obo/MONDO_0011549 HTS|hypotrichosis type 1|HYPT1|hypotrichosis 1|hypotrichosis simplex, generalized, hereditary|APCDD1 hypotrichosis|hypotrichosis caused by mutation in APCDD1|hereditary generalized hypotrichosis simplex|hypotrichosis 1; HYPT1|HHS NCBITaxon:29930 Ixodes pacificus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29930 western blacklegged tick|California black legged tick MONDO:0060510 Cohen-Gibson syndrome biolink:Disease mondo UMLS:C4479654|OMIM:617561 UMLS:C4479654|http://identifiers.org/omim/617561 http://purl.obolibrary.org/obo/MONDO_0060510 Cohen-Gibson syndrome; COGIS|COGIS MONDO:0011551 TH-deficient dopa-responsive dystonia biolink:Disease mondo UMLS:C2673535|OMIM:605407|ICD10:G24.1|GARD:0001902|SCTID:715827001|Orphanet:101150 Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. http://identifiers.org/omim/605407|UMLS:C2673535|ORPHA:101150|SNOMEDCT:715827001 http://purl.obolibrary.org/obo/MONDO_0011551 autosomal recessive dopa-responsive dystonia|Parkinsonism, infantile, autosomal recessive|Dopa-responsive dystonia, autosomal recessive|DOPA responsive dystonia, autosomal recessive|dystonia, DOPA responsive, autosomal recessive|Segawa syndrome, autosomal recessive|tyrosine hydroxylase-deficient dopa-responsive dystonia|DYT5b|autosomal recessive Segawa syndrome|Dopa-responsive dystonia, autosomal recessive|dopa-responsive dystonia, autosomal recessive|dystonia, Dopa-responsive, autosomal recessive ordo_disease MONDO:0011550 fibromatosis, gingival, with hypertrichosis and mental retardation biolink:Disease mondo OMIM:605400|UMLS:C1854306|MESH:C565331 MESH:C565331|UMLS:C1854306|http://identifiers.org/omim/605400 http://purl.obolibrary.org/obo/MONDO_0011550 fibromatosis, gingival, with hypertrichosis and mental retardation|fibromatosis, gingival, with hypertrichosis and intellectual disability MONDO:0011553 autosomal recessive nonsyndromic deafness 26 biolink:Disease mondo OMIM:605428|ICD10:H90.3|MESH:C565329|DOID:0110484|UMLS:C1854275 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31. UMLS:C1854275|DOID:0110484|http://identifiers.org/omim/605428|MESH:C565329 http://purl.obolibrary.org/obo/MONDO_0011553 autosomal recessive deafness 26|deafness, autosomal recessive 26; DFNB26|DFNB26|deafness, autosomal recessive 26|autosomal recessive nonsyndromic deafness type 26 MONDO:0011552 SCZD10 biolink:Disease mondo DOID:0070086|OMIM:605419|MESH:D012560 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15. http://identifiers.org/omim/605419|DOID:0070086|MESH:D012560 http://purl.obolibrary.org/obo/MONDO_0011552 schizophrenia 10; SCZD10|schizophrenia 10|catatonia, periodic|schizophrenia susceptibility locus, chromosome 15Q15-related|SCZD10 MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome biolink:Disease mondo OMIMPS:605432|MESH:C565328|ICD10:Q87.2|SCTID:721882001|Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). ORPHA:71289|SNOMEDCT:721882001|MESH:C565328 http://purl.obolibrary.org/obo/MONDO_0011555 radioulnar synostosis with amegakaryocytic thrombocytopenia|RUSAT|ATRUS syndrome ordo_malformation_syndrome MONDO:0011554 DFNM1 biolink:Disease mondo OMIM:605429 http://identifiers.org/omim/605429 http://purl.obolibrary.org/obo/MONDO_0011554 deafness, nonsyndromic, modifier 1|deafness, autosomal recessive 26, modifier of|deafness, autosomal recessive 26, modifier OF; DFNB26M|deafness, nonsyndromic, modifier Of, 1|Dfnb26, modifier of|Dfnb26, suppressor of|deafness, nonsyndromic, modifier 1; DFNM1|DFNB26M|DFNM1 MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant biolink:Disease mondo UMLS:C1854244|OMIM:605463|MESH:C565326 MESH:C565326|UMLS:C1854244|http://identifiers.org/omim/605463 http://purl.obolibrary.org/obo/MONDO_0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant n_of_one MONDO:0011556 BCC1 biolink:Disease mondo GARD:0009303|OMIM:605462 http://identifiers.org/omim/605462 http://purl.obolibrary.org/obo/MONDO_0011556 basal cell carcinoma, susceptibility to, 1|basal cell carcinoma, susceptibility to, 1; BCC1|basal cell carcinoma, nonsyndromic|basal cell carcinoma, multiple|BCC1|multiple basal cell carcinoma predisposition MONDO:0023528 KSHV inflammatory cytokine syndrome biolink:Disease mondo UMLS:C4086533|GARD:0010827|NCIT:C125711 A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma. UMLS:C4086533|NCIT:C125711 http://purl.obolibrary.org/obo/MONDO_0023528 KICS|Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome|KSHV inflammatory cytokine syndrome gard_rare HGNC:24969 NPRL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/24969 MONDO:0023521 Judge Misch wright syndrome biolink:Disease mondo MESH:C537692|GARD:0003061|UMLS:C2931590 UMLS:C2931590|MESH:C537692 http://purl.obolibrary.org/obo/MONDO_0023521 keratodermia palmoplantar periorificial|dry skin, photophobia hyperkeratosis, abnormal fingernails|palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia gard_rare MONDO:0060507 retinal dystrophy with or without macular staphyloma biolink:Disease mondo UMLS:C4479651|OMIM:617547 UMLS:C4479651|http://identifiers.org/omim/617547 http://purl.obolibrary.org/obo/MONDO_0060507 retinal dystrophy with or without macular staphyloma; RDMS|RDMS MONDO:0011537 macrocephaly-autism syndrome biolink:Disease mondo UMLS:C1854416|OMIM:605309|MESH:C565342|Orphanet:210548|DOID:0060867 An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23. MESH:C565342|http://identifiers.org/omim/605309|UMLS:C1854416|ORPHA:210548|DOID:0060867 http://purl.obolibrary.org/obo/MONDO_0011537 macrocephaly-intellectual disability-autism syndrome|macrocephaly/autism syndrome ordo_disease MONDO:0011536 optic atrophy 4 biolink:Disease mondo UMLS:C1854430|MESH:C565343|OMIM:605293 MESH:C565343|http://identifiers.org/omim/605293|UMLS:C1854430 http://purl.obolibrary.org/obo/MONDO_0011536 optic atrophy 4|optic atrophy 4; OPA4|OPA4 MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies biolink:Disease mondo Orphanet:521426|UMLS:C4479631|OMIM:617527 ORPHA:521426|UMLS:C4479631|http://identifiers.org/omim/617527 http://purl.obolibrary.org/obo/MONDO_0060502 NDMSBA|neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies; NDMSBA ordo_malformation_syndrome MONDO:0011539 nemaline myopathy 5 biolink:Disease mondo ICD10:G71.2|GARD:0008334|OMIM:605355|UMLS:C1854380|Orphanet:98902|DOID:0110936|MESH:C538397 Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community. MESH:C538397|ORPHA:98902|http://identifiers.org/omim/605355|UMLS:C1854380|DOID:0110936 http://purl.obolibrary.org/obo/MONDO_0011539 NEM5|nemaline myopathy 5|ANM|TNNT1 nemaline myopathy|Amish nemaline myopathy|nemaline myopathy 5, Amish type|nemaline myopathy caused by mutation in TNNT1|nemaline myopathy, Amish type|nemaline myopathy 5; NEM5|nemaline myopathy type 5|nemaline myopathy, caused by mutation in the troponin t1 gene ordo_disease MONDO:0011538 frontoocular syndrome biolink:Disease mondo UMLS:C1854405|MESH:C565340|OMIM:605321 MESH:C565340|http://identifiers.org/omim/605321|UMLS:C1854405 http://purl.obolibrary.org/obo/MONDO_0011538 frontoocular syndrome MONDO:0011540 spinocerebellar ataxia type 14 biolink:Disease mondo OMIM:605361|MESH:C537196|GARD:0009867|SCTID:719210007|DOID:0050964|UMLS:C4304883|ICD10:G11.2|Orphanet:98763|UMLS:C1854369 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus. DOID:0050964|http://identifiers.org/omim/605361|UMLS:C1854369|SNOMEDCT:719210007|MESH:C537196|ORPHA:98763|UMLS:C4304883 http://purl.obolibrary.org/obo/MONDO_0011540 spinocerebellar ataxia 14; SCA14|SCA14|spinocerebellar ataxia 14|spinocerebellar ataxia type 14 ordo_disease HGNC:10345 RPL35A biolink:OntologyClass mondo http://identifiers.org/hgnc/10345 MONDO:0011542 PSORS6 biolink:Disease mondo OMIM:605364 http://identifiers.org/omim/605364 http://purl.obolibrary.org/obo/MONDO_0011542 PSORS6|psoriasis 6, susceptibility to; PSORS6|psoriasis 6, susceptibility to MONDO:0011541 dilated cardiomyopathy 1J biolink:Disease mondo Orphanet:217622|DOID:0110440|OMIM:605362|MESH:C565337|UMLS:C1854368 Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. http://identifiers.org/omim/605362|UMLS:C1854368|DOID:0110440|ORPHA:217622|MESH:C565337 http://purl.obolibrary.org/obo/MONDO_0011541 sensorineural deafness with dilated cardiomyopathy|autosomal dominant dilated cardiomyopathy with sensorineural hearing loss|cardiomyopathy, dilated, type 1J|neurosensory hearing loss with dilated cardiomyopathy|CMD1J|neurosensory deafness with dilated cardiomyopathy|dilated cardiomyopathy type 1J|cardiomyopathy, dilated, 1J|cardiomyopathy, dilated, 1J; CMD1J|EYA4 familial dilated cardiomyopathy|cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant|familial dilated cardiomyopathy caused by mutation in EYA4|sensorineural hearing loss with dilated cardiomyopathy ordo_disease MONDO:0011544 paragangliomas 3 biolink:Disease mondo OMIM:605373|GARD:0010545|UMLS:C1854336 Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene. UMLS:C1854336|http://identifiers.org/omim/605373 http://purl.obolibrary.org/obo/MONDO_0011544 PGL3|SDHC paraganglioma|glomus tumors, familial, 3|paragangliomas 3; PGL3|SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)|paragangliomas type 3|paragangliomas 3|paraganglioma caused by mutation in SDHC gard_rare MONDO:0011543 obsolete BRCA3 biolink:Disease mondo UMLS:C1854365|OMIM:605365|MESH:C565336 MESH:C565336|UMLS:C1854365|http://identifiers.org/omim/605365 http://purl.obolibrary.org/obo/MONDO_0011543 breast cancer 3|moved to 114480|BRCA3|breast cancer 3; BRCA3|Brcax MONDO:0011546 heterotaxy, visceral, 2, autosomal biolink:Disease mondo UMLS:C1415817|OMIM:605376 http://identifiers.org/omim/605376|UMLS:C1415817 http://purl.obolibrary.org/obo/MONDO_0011546 heterotaxy, visceral, 2, autosomal|heterotaxy, visceral, 2, autosomal; HTX2|Htx|HTX2|transposition of the great arteries, dextro-looped 2; DTGA2 MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 biolink:Disease mondo MESH:C565334|UMLS:C1854335|DOID:0060684|OMIM:605375 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene. MESH:C565334|http://identifiers.org/omim/605375|UMLS:C1854335|DOID:0060684 http://purl.obolibrary.org/obo/MONDO_0011545 autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2|epilepsy, nocturnal frontal lobe, 3|epilepsy, nocturnal frontal lobe, 3; ENFL3|autosomal dominant nocturnal frontal lobe epilepsy type 3|nocturnal frontal lobe epilepsy 3|CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy|ENFL3|epilepsy, nocturnal frontal lobe, type 3 MONDO:0023595 congenital myotonic dystrophy biolink:Disease mondo NCIT:C123308|UMLS:C0410226|GARD:0009134 Myotonic dystrophy that is present at birth. UMLS:C0410226|NCIT:C123308 http://purl.obolibrary.org/obo/MONDO_0023595 congenital myotonic dystrophy|Congenital Myotonic dystrophy|dystrophies, Congenital Myotonic|MYOTONIC dystrophy CONGEN|dystrophy, Congenital Myotonic|Congenital Myotonic dystrophies|Myotonic dystrophy, Congenital|Congenital myotonic dystrophy|Myotonic dystrophies, Congenital gard_rare MONDO:0023597 laryngeal papillomatosis biolink:Disease mondo SCTID:232457008|UMLS:C0396072|MESH:C537876|GARD:0006864 Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11. SNOMEDCT:232457008|UMLS:C0396072|MESH:C537876 http://purl.obolibrary.org/obo/MONDO_0023597 juvenile laryngeal papillomatosis (subtype)|recurrent laryngeal papillomatosis|laryngeal papillomatosis|recurrent laryngeal papillomatosis (subtype)|juvenile laryngeal papillomatosis|Warts in the throat gard_rare MONDO:0023599 mesomelic dysplasia biolink:Disease mondo SCTID:205473008|NCIT:C121156|UMLS:C0410536 A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae). NCIT:C121156|UMLS:C0410536|SNOMEDCT:205473008 http://purl.obolibrary.org/obo/MONDO_0023599 mesomelic dysplasia|Mesomelic Dysplasia|Mesomelic dysplasia|mesomelic dysplasias|Mesomelic dwarf HGNC:10306 RPL15 biolink:OntologyClass mondo http://identifiers.org/hgnc/10306 HGNC:12974 RNF113A biolink:OntologyClass mondo http://identifiers.org/hgnc/12974 HP:0002733 Abnormality of the lymph nodes biolink:PhenotypicFeature mondo UMLS:C0149727 A lymph node abnormality. http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes|Abnormal lymph node histology HGNC:10313 RPL21 biolink:OntologyClass mondo http://identifiers.org/hgnc/10313 HP:0002748 Rickets biolink:PhenotypicFeature mondo SNOMEDCT_US:41345002|MSH:D012279|UMLS:C0035579 Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. http://purl.obolibrary.org/obo/HP_0002748 Weak and soft bones MONDO:0023581 Kuster syndrome biolink:Disease mondo UMLS:C2931741|MESH:C538126|GARD:0003152 MESH:C538126|UMLS:C2931741 http://purl.obolibrary.org/obo/MONDO_0023581 cleft lip palate lip pits limb deficiency|cleft lip and palate, lower lip pits, and limb deficiency defects gard_rare HGNC:10327 RPL26 biolink:OntologyClass mondo http://identifiers.org/hgnc/10327 MONDO:0023573 Kozlowski Warren Fisher syndrome biolink:Disease mondo UMLS:C2931546|MESH:C537614|GARD:0000353 MESH:C537614|UMLS:C2931546 http://purl.obolibrary.org/obo/MONDO_0023573 cloverleaf skull generalised bone dysplasia gard_rare MONDO:0023575 Krauss Herman Holmes syndrome biolink:Disease mondo UMLS:C2931549|MESH:C537618|GARD:0003143 MESH:C537618|UMLS:C2931549 http://purl.obolibrary.org/obo/MONDO_0023575 telecanthus, hypertelorism, strabismus, and pes cavus syndrome gard_rare NCBITaxon:713 Actinobacillus organism taxon mondo PMID:15143001|GC_ID:11|PMID:1736960 http://purl.obolibrary.org/obo/NCBITaxon_713 MONDO:0023577 Krieble Bixler syndrome biolink:Disease mondo MESH:C537619|UMLS:C2931550|GARD:0003144 UMLS:C2931550|MESH:C537619 http://purl.obolibrary.org/obo/MONDO_0023577 autosomal dominant blepharophimosis with multiple congenital anomalies gard_rare MONDO:0023579 Kuster Majewski Hammerstein syndrome biolink:Disease mondo MESH:C538125|GARD:0003151|UMLS:C2931740 UMLS:C2931740|MESH:C538125 http://purl.obolibrary.org/obo/MONDO_0023579 alopecia macular degeneration growth retardation|alopecia, macular degeneration, and growth retardation gard_rare HP:0002715 Abnormality of the immune system biolink:PhenotypicFeature mondo UMLS:C4021753 An abnormality of the immune system. http://purl.obolibrary.org/obo/HP_0002715 Immunological abnormality|Abnormality of the immune system HP:0002716 Lymphadenopathy biolink:PhenotypicFeature mondo UMLS:C0497156|MSH:D000072281|SNOMEDCT_US:30746006 Enlargment (swelling) of a lymph node. http://purl.obolibrary.org/obo/HP_0002716 Swollen lymph nodes|Lymph node hyperplasia NCBITaxon:712 Pasteurellaceae organism taxon mondo PMID:10843050|PMID:15388716|PMID:15280320|GC_ID:11|PMID:29923825|PMID:2223605|PMID:17220461 http://purl.obolibrary.org/obo/NCBITaxon_712 HP:0002719 Recurrent infections biolink:PhenotypicFeature mondo UMLS:C0239998 Increased susceptibility to infections. http://purl.obolibrary.org/obo/HP_0002719 Susceptibility to infection|Frequent infections|infections, recurrent|Increased frequency of infection|Frequent, severe infections|Recurrent infections|Predisposition to infections MONDO:0023571 Kozlowski Rafinski Klicharska syndrome biolink:Disease mondo GARD:0003140|MESH:C537509|UMLS:C2931513 MESH:C537509|UMLS:C2931513 http://purl.obolibrary.org/obo/MONDO_0023571 metaphyseal and epiphyseal dysplasia with unusual facies and cataract gard_rare HP:0002717 Adrenal overactivity biolink:PhenotypicFeature mondo UMLS:C4025685 http://purl.obolibrary.org/obo/HP_0002717 HP:0002718 Recurrent bacterial infections biolink:PhenotypicFeature mondo UMLS:C4020846|SNOMEDCT_US:428875002|UMLS:C1844383|UMLS:C2748958 Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. http://purl.obolibrary.org/obo/HP_0002718 Recurrent bacterial infections|Frequent pyogenic infections|Susceptibility to pyogenic infection|Prone to bacterial infection|Frequent bacterial infections|Recurrent major bacterial infections|Recurrent pyogenic infections|Bacterial infections, recurrent|Increased susceptibility to bacterial infections MONDO:0011595 nonsyndromic congenital nail disorder 7 biolink:Disease mondo GARD:0009761|SCTID:403281007|OMIM:605779|ICD10:Q84.6|Orphanet:79144|DOID:0080085|UMLS:C1853984|MESH:C538333 MESH:C538333|DOID:0080085|ORPHA:79144|SNOMEDCT:403281007|http://identifiers.org/omim/605779|UMLS:C1853984 http://purl.obolibrary.org/obo/MONDO_0011595 nonsyndromic congenital nail disorder type 7|NDNC7|Iso-Kikuchi syndrome|congenital onychodysplasia of the index fingers|isolated congenital nail dysplasia|nail disorder, nonsyndromic congenital, 7; NDNC7|isolated congenital onychodysplasia|nail disorder, nonsyndromic congenital, 7|nail dysplasia, isolated congenital|COIF|COIF syndrome|onychodysplasia, isolated congenital|congenital isolated nail dysplasia ordo_disease MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis biolink:Disease mondo OMIM:605756|UMLS:C3148970 UMLS:C3148970|http://identifiers.org/omim/605756 http://purl.obolibrary.org/obo/MONDO_0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis|gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis MONDO:0011597 atopic dermatitis 3 biolink:Disease mondo MESH:C565292|UMLS:C1853964|DOID:0110099|OMIM:605804 An atopic dermatitis associated with variation in the region 20p. MESH:C565292|DOID:0110099|http://identifiers.org/omim/605804|UMLS:C1853964 http://purl.obolibrary.org/obo/MONDO_0011597 dermatitis, ATOPIC, 3|atopic dermatitis type 3|dermatitis, ATOPIC, 3; ATOD3|atopic dermatitis with asthma|dermatitis, Atopic, with asthma|ATOD3 NCBITaxon:27317 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_27317 MONDO:0011596 atopic dermatitis 2 biolink:Disease mondo DOID:0110098|OMIM:605803|MESH:C565293|UMLS:C1853965 Any atopic eczema in which the cause of the disease is a mutation in the FLG gene. MESH:C565293|DOID:0110098|http://identifiers.org/omim/605803|UMLS:C1853965 http://purl.obolibrary.org/obo/MONDO_0011596 dermatitis, ATOPIC, 2|dermatitis, Atopic, type 2|dermatitis, ATOPIC, 2; ATOD2|atopic dermatitis type 2|FLG atopic eczema|ATOD2|atopic eczema caused by mutation in FLG MONDO:0011599 birdshot chorioretinopathy biolink:Disease mondo UMLS:C1853959|MESH:C537630|DOID:0111079|Orphanet:179|GARD:0005926|OMIM:605808|SCTID:231981005|ICD10:H30.1|UMLS:C0339402 Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. UMLS:C1853959|ORPHA:179|DOID:0111079|MESH:C537630|UMLS:C0339402|http://identifiers.org/omim/605808|SNOMEDCT:231981005 http://purl.obolibrary.org/obo/MONDO_0011599 birdshot chorioretinitis|BSCR|birdshot chorioretinopathy|vitiliginous choroiditis|multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk|Bscr|birdshot retinochoroiditis|birdshot retinochoroidopathy gard_rare|ordo_disease MONDO:0011598 atopic dermatitis 4 biolink:Disease mondo DOID:0110100|MESH:C565291|UMLS:C1853963|OMIM:605805 An atopic dermatitis associated with variation in the region 17q25.3. MESH:C565291|DOID:0110100|http://identifiers.org/omim/605805|UMLS:C1853963 http://purl.obolibrary.org/obo/MONDO_0011598 dermatitis, ATOPIC, 4|atopic dermatitis type 4|ATOD4|dermatitis, ATOPIC, 4; ATOD4 HGNC:24928 VPS37A biolink:OntologyClass mondo http://identifiers.org/hgnc/24928 MONDO:0011591 cataract 26 multiple types biolink:Disease mondo ICD10:Q12.0|OMIM:605749|UMLS:C1854003|MESH:C565298|DOID:0110246 A cataract that has material basis in variation in the region 9q13-q22. MESH:C565298|UMLS:C1854003|DOID:0110246|http://identifiers.org/omim/605749 http://purl.obolibrary.org/obo/MONDO_0011591 cataract 26, multiple types|cataract, autosomal recessive, early-onset, pulverulent|cataract 26, multiple types; CTRCT26|CTRCT26 MONDO:0011590 anisomastia biolink:Disease mondo OMIM:605746|MESH:C565299 MESH:C565299|http://identifiers.org/omim/605746 http://purl.obolibrary.org/obo/MONDO_0011590 anisomastia MONDO:0011593 seizures, benign familial infantile, 2 biolink:Disease mondo UMLS:C1853995|MESH:C565296|OMIM:605751 MESH:C565296|http://identifiers.org/omim/605751|UMLS:C1853995 http://purl.obolibrary.org/obo/MONDO_0011593 BFIS2|seizures, benign familial infantile, 2; BFIS2|convulsions, benign familial infantile, 2|seizures, benign familial infantile, type 2|seizures, benign familial infantile, 2 MONDO:0011592 EVR3 biolink:Disease mondo MESH:C565297|UMLS:C1854002|OMIM:605750 MESH:C565297|UMLS:C1854002|http://identifiers.org/omim/605750 http://purl.obolibrary.org/obo/MONDO_0011592 exudative vitreoretinopathy 3|exudative vitreoretinopathy 3; EVR3|EVR3 NCBITaxon:727 Haemophilus influenzae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_727 Mycobacterium influenzae|Coccobacillus pfeifferi|Bacterium influenzae|Influenza-bacillus|Haemophilus meningitidis MONDO:0023563 Kotzot-Richter syndrome biolink:Disease mondo UMLS:C2931399|GARD:0003134|MESH:C537025 MESH:C537025|UMLS:C2931399 http://purl.obolibrary.org/obo/MONDO_0023563 albinism with immune and hematologic defects|oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies gard_rare NCBITaxon:724 Haemophilus organism taxon mondo GC_ID:11|PMID:1736960 http://purl.obolibrary.org/obo/NCBITaxon_724 HGNC:24945 GPIHBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/24945 MONDO:0023567 Kozlowski Brown Hardwick syndrome biolink:Disease mondo UMLS:C2931511|MESH:C537506|GARD:0003136 UMLS:C2931511|MESH:C537506 http://purl.obolibrary.org/obo/MONDO_0023567 unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus gard_rare MONDO:0023569 Kozlowski Ouvrier syndrome biolink:Disease mondo UMLS:C2931512|MESH:C537508|GARD:0003139 UMLS:C2931512|MESH:C537508 http://purl.obolibrary.org/obo/MONDO_0023569 agenesis of the corpus callosum with mental retardation and osseous lesions|agenesis of the corpus callosum with intellectual disability and osseous lesions gard_rare NCBITaxon:29960 Penaeus indicus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29960 Penaeus (Fenneropenaeus) indicus|Fenneropenaeus indicus HP:0002725 Systemic lupus erythematosus biolink:PhenotypicFeature mondo UMLS:C0024141|SNOMEDCT_US:55464009|MSH:D008180 A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. http://purl.obolibrary.org/obo/HP_0002725 SLE NCBITaxon:723 Actinobacillus ureae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_723 Pasterella haemolytica var. ureae|Pasteurella ureae MONDO:0023561 Koone-Rizzo-Elias syndrome biolink:Disease mondo MESH:C537023|GARD:0003131|UMLS:C2931397 MESH:C537023|UMLS:C2931397 http://purl.obolibrary.org/obo/MONDO_0023561 Koone Rizzo Elias syndrome|ichthyosis, mental retardation and asymptomatic spasticity|ichthyosis, intellectual disability and asymptomatic spasticity gard_rare MONDO:0011584 Fanconi anemia complementation group D1 biolink:Disease mondo DOID:0111089|UMLS:C1838457|OMIM:605724|MESH:C563980|Orphanet:319462|SCTID:766707003|NCIT:C125705 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. ORPHA:319462|SNOMEDCT:766707003|DOID:0111089|UMLS:C1838457|http://identifiers.org/omim/605724|MESH:C563980|NCIT:C125705 http://purl.obolibrary.org/obo/MONDO_0011584 Fanconi anemia, complementation group D1|inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations|Fanconi anemia, complementation group D1; FANCD1|Fad1|FAD1|FANCD1 ordo_disease MONDO:0011583 cerebral amyloid angiopathy, APP-related biolink:Disease mondo UMLS:C3888307|DOID:0070028|UMLS:C2751494|UMLS:C2751536|UMLS:C3888309|OMIM:605714|UMLS:C3888308 A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3. DOID:0070028|UMLS:C3888309|UMLS:C3888308|UMLS:C3888307|UMLS:C2751536|UMLS:C2751494|http://identifiers.org/omim/605714 http://purl.obolibrary.org/obo/MONDO_0011583 amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant|cerebral amyloid angiopathy, APP-related, Italian variant|cerebral amyloid angiopathy, APP-related, Flemish variant|amyloidosis, Cerebroarterial, APP-related|cerebral amyloid angiopathy, APP-related, Iowa variant|HCHWAD|cerebral amyloid angiopathy, APP-related|APP-related cerebral amyloid angiopathy|cerebral amyloid angiopathy, APP-related, Arctic variant|cerebral amyloid angiopathy, APP-related, Dutch variant HGNC:10301 RPL11 biolink:OntologyClass mondo http://identifiers.org/hgnc/10301 MONDO:0011586 OTSC2 biolink:Disease mondo OMIM:605727|MESH:C565302|UMLS:C1854022 MESH:C565302|UMLS:C1854022|http://identifiers.org/omim/605727 http://purl.obolibrary.org/obo/MONDO_0011586 otosclerosis 2|OTSC2|otosclerosis 2; OTSC2 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 biolink:Disease mondo DOID:0111065|MESH:C535715|SCTID:763533003|ICD10:G12.2|OMIM:605726|Orphanet:139552|GARD:0010133 Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset). ORPHA:139552|DOID:0111065|SNOMEDCT:763533003|UMLS:C1854023|MESH:C535715|http://identifiers.org/omim/605726 http://purl.obolibrary.org/obo/MONDO_0011585 DSMA2|spinal muscular atrophy, Jerash type|spinal muscular atrophy Jerash type|motor neuropathy, distal, Jerash type|hereditary motor neuropathy, Jerash type|spinal muscular atrophy, distal, autosomal recessive, 2; DSMA2|DSMA2|autosomal recessive distal spinal muscular atrophy type 2|MNDJ|spinal muscular atrophy, distal, autosomal recessive, type 2|distal hereditary motor neuropathy Jerash type|dHMNJ|neuronopathy, distal hereditary motor, Jerash type|distal hereditary motor neuropathy, Jerash type|spinal muscular atrophy, distal, autosomal recessive, 2|HMNJ|neuropathy, distal hereditary motor, Jerash type ordo_disease MONDO:0011588 platelet-type bleeding disorder 12 biolink:Disease mondo DOID:0111058|MESH:C567786|UMLS:C2751535|OMIM:605735 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. MESH:C567786|DOID:0111058|UMLS:C2751535|http://identifiers.org/omim/605735 http://purl.obolibrary.org/obo/MONDO_0011588 BDPLT12|prostaglandin-endoperoxide synthase 1 deficiency, platelet|platelet prostaglandin-endoperoxide synthase 1 deficiency|platelet cyclooxygenase 1 deficiency|PGHS1 deficiency|bleeding disorder, platelet-type, 12; BDPLT12|platelet COX1 deficiency|bleeding disorder, platelet-type, 12 MONDO:0011587 cataract 25 biolink:Disease mondo ICD10:Q12.0|DOID:0110254|MESH:C565301|OMIM:605728 A cataract that has material basis in variation in the region 15q21-q22. MESH:C565301|DOID:0110254|http://identifiers.org/omim/605728 http://purl.obolibrary.org/obo/MONDO_0011587 CTRCT25|early-onset cataract with Y-shaped suture opacities|central pouch-like cataract with sutural opacities|CCSSO|central saccular cataract with sutural opacities|cataract, central pouch-like, with sutural opacities|cataract type 25|cataract, central saccular, with sutural opacities|cataract 25; CTRCT25|cataract 25 MONDO:0011589 MCOPCB2 biolink:Disease mondo UMLS:C1854018|OMIM:605738|MESH:C565300 MESH:C565300|UMLS:C1854018|http://identifiers.org/omim/605738 http://purl.obolibrary.org/obo/MONDO_0011589 microphthalmia, isolated, with coloboma 2; MCOPCB2|microphthalmia, colobomatous, isolated 2|microphthalmia, isolated, with coloboma 2|MCOPCB2 HP:0002721 Immunodeficiency biolink:PhenotypicFeature mondo MSH:D007153|SNOMEDCT_US:234532001|UMLS:C0021051 Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. http://purl.obolibrary.org/obo/HP_0002721 Decreased immune function|Immune deficiency MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism biolink:Disease mondo OMIM:605672|MESH:C565308|UMLS:C1854064 MESH:C565308|UMLS:C1854064|http://identifiers.org/omim/605672 http://purl.obolibrary.org/obo/MONDO_0011580 cerebellar ataxia and hypergonadotropic hypogonadism MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 biolink:Disease mondo OMIM:605711|UMLS:C3276432|DOID:0080133|Orphanet:401869|ICD10:E88.8|UMLS:CN226135 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene. UMLS:CN226135|ORPHA:401869|DOID:0080133|http://identifiers.org/omim/605711|UMLS:C3276432 http://purl.obolibrary.org/obo/MONDO_0011582 multiple mitochondrial dysfunctions syndrome 1; MMDS1|multiple mitochondrial dysfunctions syndrome type 1|NFU1 fatal multiple mitochondrial dysfunctions syndrome|Mmds|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1|NFU1 deficiency|multiple mitochondrial dysfunctions syndrome 1|MMDS1 ordo_disease MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma biolink:Disease mondo DOID:0090128|Orphanet:65282|UMLS:C1854063|SCTID:719835006|OMIM:605676|GARD:0005595|MESH:C535581 Arrhythmogenic cardiomyopathy with woolly hair and keratoderma is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features. SNOMEDCT:719835006|UMLS:C1854063|DOID:0090128|MESH:C535581|http://identifiers.org/omim/605676|ORPHA:65282 http://purl.obolibrary.org/obo/MONDO_0011581 DCWHK|cardiomyopathy, dilated, with woolly hair and keratoderma|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|keratoderma with woolly hair type II|epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy|woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome|dilated cardiomyopathy with woolly hair and keratoderma|cardiomyopathy, dilated, with woolly hair and keratoderma; DCWHK|woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|cardiomyopathy dilated with woolly hair and keratoderma|wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|wooly hair - palmoplantar keratoderma - dilated cardiomyopathy|KWWH type II|Carvajal syndrome ordo_disease|gard_rare HGNC:24912 LARP7 biolink:OntologyClass mondo http://identifiers.org/hgnc/24912 HGNC:12926 ZNF141 biolink:OntologyClass mondo http://identifiers.org/hgnc/12926 UBERON:0034994 hindbrain cortical intermediate zone biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034994 hindbrain mantle layer UBERON:0034995 jaw mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing jaw [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0034995 UBERON:0034996 outer renal medulla loop of Henle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034996 loop of Henle, outer medullary portion HGNC:12930 ZBTB16 biolink:OntologyClass mondo http://identifiers.org/hgnc/12930 UBERON:0034986 sacral nerve plexus biolink:AnatomicalEntity mondo A nerve plexus which provides motor and sensory nerves for the posterior thigh, most of the lower leg, the entire foot, and part of the pelvis. http://purl.obolibrary.org/obo/UBERON_0034986 plexus sacralis|sacral plexus|plexus sacralis UBERON:0034987 lumbar nerve plexus biolink:AnatomicalEntity mondo A nervous plexus in the lumbar region of the body which forms part of the lumbosacral plexus. http://purl.obolibrary.org/obo/UBERON_0034987 plexus lumbalis|plexus lumbalis|lumbar plexus|femoral plexus UBERON:0007376 outer epithelium biolink:AnatomicalEntity mondo The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. http://purl.obolibrary.org/obo/UBERON_0007376 hypoderm|epidermis|outer epithelial layer|outer epidermal layer|hypodermis|epidermis (sensu Metazoa) UBERON:0007375 roof of mouth biolink:AnatomicalEntity mondo A multi-tissue structure consisting of bone and soft tissue that forms a part of the roof of the oral cavity. In mammals this is the combination of the primary palate (premaxilla) and the secondary palate. In early tetrapods it consists of the vomer, pterygoid, parasphenoid, palatine and ectopterygoid bones. http://purl.obolibrary.org/obo/UBERON_0007375 roof of buccal cavity|roof of oral cavity|palate|palatum|primary or secondary palate UBERON:0007373 inferior surface of tongue biolink:AnatomicalEntity mondo The lower (inferior) side of the tongue. http://purl.obolibrary.org/obo/UBERON_0007373 ventrum linguae|ventral surface of tongue HGNC:12933 ZNF148 biolink:OntologyClass mondo http://identifiers.org/hgnc/12933 UBERON:0007371 superior surface of tongue biolink:AnatomicalEntity mondo The upper (superior) side of the tongue. http://purl.obolibrary.org/obo/UBERON_0007371 dorsal surface of tongue HGNC:3007 DPM3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3007 HGNC:3006 DPM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3006 HGNC:3005 DPM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3005 HGNC:3003 DPH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3003 UBERON:0020358 accessory XI nerve nucleus biolink:AnatomicalEntity mondo The spinal accessory nucleus lies within the cervical spinal cord (C1-C5) in the ventral horn. The nucleus ambiguus is classically said to provide the 'cranial component' of the accessory nerve. However, the very existence of this cranial component has been recently questioned and seen as contributing exclusively to the vagus nerve. The terminology continues to be used in describing both human anatomy, and that of other animals. http://purl.obolibrary.org/obo/UBERON_0020358 accessory nucleus of anterior column of spinal cord|nucleus nervi accessorii|nucleus accessorius columnae anterioris medullae spinalis|accessory neural nucleus|nucleus of the spinal accessory nerve|spinal accessory nucleus|nucleus of the accessory nerve|nucleus of accessory nerve NCBITaxon:64320 Zika virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_64320 ZIKV UBERON:0007367 surface of tongue biolink:AnatomicalEntity mondo An anatomical surface that is part of a tongue. http://purl.obolibrary.org/obo/UBERON_0007367 tongue surface UBERON:0034997 renal medulla loop of Henle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034997 loop of Henle, medullary portion|loop of Henle of renal medulla HGNC:3010 DPP6 biolink:OntologyClass mondo http://identifiers.org/hgnc/3010 CHEBI:32952 amine biolink:ChemicalSubstance mondo A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. http://purl.obolibrary.org/obo/CHEBI_32952 Substituted amine|Amine|amines|Amin HGNC:3018 SLC26A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3018 HGNC:3013 DPYS biolink:OntologyClass mondo http://identifiers.org/hgnc/3013 HGNC:3012 DPYD biolink:OntologyClass mondo http://identifiers.org/hgnc/3012 UBERON:0007355 bony part of pharyngotympanic tube biolink:AnatomicalEntity mondo The bony part of pharyngotympanic tube is about 12 mm. in length. It begins in the carotid wall of the tympanic cavity, below the septum canalis musculotubarii, and, gradually narrowing, ends at the angle of junction of the squama and the petrous portion of the temporal bone, its extremity presenting a jagged margin which serves for the attachment of the cartilaginous portion. http://purl.obolibrary.org/obo/UBERON_0007355 bony part of eustachian tube|pars ossea (tuba auditoria)|osseous portion of eustachian tube|pars ossea tubae auditivae|osseous portion|bony part of auditory tube|pars ossea (tuba auditiva) UBERON:0007354 cartilage of pharyngotympanic tube biolink:AnatomicalEntity mondo A triangular plate of elastic fibrocartilage that forms the cartilage component of the pharyngotympanic tube. http://purl.obolibrary.org/obo/UBERON_0007354 cartilage of eustachian tube|pharyngotympanic tube cartilage|cartilago tubae auditivae; cartilago tubae auditoriae|cartilago tubae auditivae|cartilage of auditory tube|cartilago tubae auditoriae UBERON:0010996 articular cartilage of joint biolink:AnatomicalEntity mondo A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. http://purl.obolibrary.org/obo/UBERON_0010996 hyaline cartilage|cartilago articularis|articular cartilage|joint-associated cartilage HGNC:12910 MKRN3-AS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/12910 HGNC:3026 DRD5 biolink:OntologyClass mondo http://identifiers.org/hgnc/3026 HGNC:3025 DRD4 biolink:OntologyClass mondo http://identifiers.org/hgnc/3025 HGNC:3024 DRD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/3024 HGNC:3023 DRD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3023 NCBITaxon:207598 Homininae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_207598 Homo/Pan/Gorilla group HGNC:3033 ATN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3033 CHEBI:78295 food component biolink:ChemicalSubstance mondo Any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. http://purl.obolibrary.org/obo/CHEBI_78295 dietary components|dietary component|food components CHEBI:17310 pyridoxal biolink:ChemicalSubstance mondo A pyridinecarbaldehyde that is pyridine-4-carbaldehyde bearing methyl, hydroxy and hydroxymethyl substituents at positions 2, 3 and 5 respectively. The 4-carboxyaldehyde form of vitamin B6, it is converted into pyridoxal phosphate, a coenzyme for the synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid. http://purl.obolibrary.org/obo/CHEBI_17310 3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carbaldehyde|3-HYDROXY-5-(HYDROXYMETHYL)-2-METHYLISONICOTINALDEHYDE|pyridoxal|Pyridoxal|pyridoxaldehyde CHEBI:78298 environmental contaminant biolink:ChemicalSubstance mondo Any minor or unwanted substance introduced into the environment that can have undesired effects. http://purl.obolibrary.org/obo/CHEBI_78298 environmental contaminants HGNC:3036 DSC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3036 MONDO:0023510 Jaffer-Beighton syndrome biolink:Disease mondo UMLS:C2931533|MESH:C537561|GARD:0003040 MESH:C537561|UMLS:C2931533 http://purl.obolibrary.org/obo/MONDO_0023510 arachnodactyly, joint laxity, and spondylolisthesis|Jaffer Beighton syndrome gard_rare MONDO:0023513 Jeune syndrome situs inversus biolink:Disease mondo GARD:0000303|UMLS:C2931535|MESH:C537572 MESH:C537572|UMLS:C2931535 http://purl.obolibrary.org/obo/MONDO_0023513 n_of_one|gard_rare MONDO:0011526 obsolete Sebastian syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011526 MONDO:0011525 Carney complex type 2 biolink:Disease mondo OMIM:605244 http://identifiers.org/omim/605244 http://purl.obolibrary.org/obo/MONDO_0011525 CNC2|Carney complex, type 2; CNC2|Carney Myxoma-endocrine Complex, type 2|Carney complex, type 2 MONDO:0011528 hyper-IgM syndrome type 2 biolink:Disease mondo Orphanet:101089|GARD:0010578|ICD10:D80.5|SCTID:403836001|OMIM:605258|NCIT:C129074|DOID:0060758 A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. NCIT:C129074|http://identifiers.org/omim/605258|ORPHA:101089|SNOMEDCT:403836001|DOID:0060758 http://purl.obolibrary.org/obo/MONDO_0011528 immunodeficiency with hyper IgM type 2|immunodeficiency with hyper-IgM, type 2|hyper-IgM syndrome caused by mutation in AICDA|immunodeficiency with hyper-IgM, type 2; HIGM2|aid deficiency|hyper-IgM syndrome 2|immunodeficiency with hyper-IgM type 2|hyper-IgM syndrome type 2|activation-induced cytidine deaminase deficiency|hyper IgM syndrome 2|HIGM2|AICDA hyper-IgM syndrome|Activation-induced cytidine deaminase deficiency gard_rare|ordo_clinical_subtype MONDO:0011527 Charcot-Marie-Tooth disease type 4E biolink:Disease mondo DOID:0110195|MESH:C535301|SCTID:763135001|GARD:0006170|ICD10:G60.0|OMIM:605253|GARD:0009203|Orphanet:99951 Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. ORPHA:99951|MESH:C535301|DOID:0110195|http://identifiers.org/omim/605253|SNOMEDCT:763135001 http://purl.obolibrary.org/obo/MONDO_0011527 congenital hypomyelinating neuropathy (CHN)|NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1|Charcot-Marie-Tooth neuropathy, type 4E|autosomal recessive congenital hypomyelinating or amyelinating neuropathy|neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive; CHN|Charcot-Marie-Tooth neuropathy type 4E|hypomyelination, Severe congenital|neuropathy, congenital hypomyelinating, autosomal dominant|congenital hypomyelination neuropathy|CMT4E|neuropathy, congenital hypomyelinating, 1|Charcot-Marie-Tooth disease, type 4E|autosomal recessive congenital hypomyelinating neuropathy|neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive|Charcot-Marie-Tooth disease type 4E|CHN|neuropathy, congenital hypomyelinating|Charcot Marie Tooth disease type 4E|CMT 4E gard_rare|ordo_disease MONDO:0011529 spinocerebellar ataxia type 13 biolink:Disease mondo OMIM:605259|SCTID:719209002|GARD:0009611|UMLS:C4304884|DOID:0050963|Orphanet:98768|ICD10:G11.2|MESH:C537195|UMLS:C1854488 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. MESH:C537195|ORPHA:98768|UMLS:C4304884|http://identifiers.org/omim/605259|DOID:0050963|UMLS:C1854488|SNOMEDCT:719209002 http://purl.obolibrary.org/obo/MONDO_0011529 SCA13|autosomal dominant cerebellar ataxia with intellectual disability|spinocerebellar ataxia 13; SCA13|cerebellar ataxia, autosomal dominant with intellectual disability|cerebellar ataxia, autosomal dominant with mental retardation|spinocerebellar ataxia 13|autosomal dominant cerebellar ataxia with mental retardation|spinocerebellar ataxia type 13 ordo_disease UBERON:0034944 zone of organ biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034944 organ zonal region|organ zone|organ sector|organ region with floating fiat boundary MONDO:0011531 Noonan syndrome 2 biolink:Disease mondo MESH:C548081|DOID:0060580|OMIM:605275|GARD:0010698|UMLS:C1854469 MESH:C548081|http://identifiers.org/omim/605275|UMLS:C1854469|DOID:0060580 http://purl.obolibrary.org/obo/MONDO_0011531 Noonan syndrome type 2|autosomal recessive Noonan syndrome|Noonan syndrome autosomal recessive|Noonan syndrome, autosomal recessive|NS2|Noonan syndrome 2|Noonan syndrome 2; NS2 gard_rare MONDO:0011530 mesomelic dysplasia, Savarirayan type biolink:Disease mondo GARD:0010584|UMLS:C1854470|ICD10:Q78.8|OMIM:605274|SCTID:715652002|Orphanet:85170|MESH:C565349 Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. MESH:C565349|http://identifiers.org/omim/605274|UMLS:C1854470|ORPHA:85170|SNOMEDCT:715652002 http://purl.obolibrary.org/obo/MONDO_0011530 mesomelic dysplasia Savarirayan type|triangular tibia-fibular aplasia syndrome|mesomelic dysplasia, Savarirayan type|triangular tibia and fibular aplasia|mesomelic dysplasia with absent fibulas and triangular tibias ordo_malformation_syndrome|gard_rare MONDO:0011533 temtamy preaxial brachydactyly syndrome biolink:Disease mondo OMIM:605282|ICD10:Q87.2|Orphanet:363417|GARD:0009679|UMLS:C1854466|DOID:0050814|MESH:C536958 An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene. DOID:0050814|http://identifiers.org/omim/605282|MESH:C536958|UMLS:C1854466|ORPHA:363417 http://purl.obolibrary.org/obo/MONDO_0011533 preaxial brachydactyly syndrome, TEMTAMY type|preaxial brachydactyly syndrome, Temtamy type|TEMTAMY preaxial brachydactyly syndrome; TPBS|temtamy preaxial brachydactyly syndrome|intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|TPBS|mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies gard_rare|ordo_malformation_syndrome MONDO:0011532 hereditary spastic paraplegia 13 biolink:Disease mondo ICD10:G11.4|MESH:C537485|DOID:0110766|Orphanet:100994|GARD:0009616|UMLS:C1854467|OMIM:605280 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene. http://identifiers.org/omim/605280|UMLS:C1854467|DOID:0110766|ORPHA:100994|MESH:C537485 http://purl.obolibrary.org/obo/MONDO_0011532 HSPD1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 13|spastic paraplegia 13, autosomal dominant; SPG13|hereditary spastic paraplegia type 13|hereditary spastic paraplegia caused by mutation in HSPD1|SPG13|spastic paraplegia 13|autosomal dominant spastic paraplegia type 13|spastic paraplegia 13, autosomal dominant ordo_disease UBERON:0034947 gas in respiratory system biolink:AnatomicalEntity mondo Any portion of gas located in a part of the respiratory system. http://purl.obolibrary.org/obo/UBERON_0034947 respiratory system gas|respiratory gas MONDO:0011535 split hand-foot malformation 4 biolink:Disease mondo OMIM:605289|DOID:0090023|MESH:C565344|ICD10:Q71.6 Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene. MESH:C565344|DOID:0090023|http://identifiers.org/omim/605289 http://purl.obolibrary.org/obo/MONDO_0011535 split hand-foot malformation type 4|split hand-foot malformation caused by mutation in TP63|split-hand/foot malformation 4; SHFM4|SHFM4|split-hand/foot malformation 4|TP63 split hand-foot malformation|split-hand/foot malformation type 4 MONDO:0011534 Charcot-Marie-Tooth disease type 4G biolink:Disease mondo OMIM:605285|Orphanet:99953|ICD10:G60.0|UMLS:C1854449|GARD:0010132|SCTID:715799004|DOID:0110196|MESH:C535813 Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. ORPHA:99953|DOID:0110196|http://identifiers.org/omim/605285|UMLS:C1854449|MESH:C535813|SNOMEDCT:715799004 http://purl.obolibrary.org/obo/MONDO_0011534 neuropathy, hereditary motor and sensory, Russe type; HMSNR|Charcot-Marie-Tooth disease, type 4G|Charcot-Marie-Tooth disease, autosomal recessive, type 4G|Charcot-Marie-Tooth neuropathy type 4G|CMT4G|Charcot-Marie-Tooth disease type 4 caused by mutation in HK1|HMSNR|hereditary motor and sensory neuropathy Russe type|neuropathy, hereditary motor and sensory, Russe type|autosomal recessive Charcot-Marie-Tooth disease type 4G|Charcot-Marie-Tooth neuropathy, type 4G|HK1 Charcot-Marie-Tooth disease type 4|hereditary motor and sensory neuropathy, Russe type ordo_disease HGNC:3049 DSG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/3049 HGNC:3048 DSG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/3048 MONDO:0011515 obsolete papillary renal cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011515 MONDO:0011514 tricuspid atresia (disease) biolink:Disease mondo ICD10:Q22.4|MedDRA:10049767|MESH:D018785|OMIM:605067|DOID:0080169|GARD:0005274|SCTID:63042009|HP:0011662|UMLS:C0243002|NCIT:C85202|Orphanet:1209 Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV). SNOMEDCT:63042009|MEDDRA:10049767|DOID:0080169|ORPHA:1209|http://identifiers.org/omim/605067|NCIT:C85202|MESH:D018785|UMLS:C0243002 http://purl.obolibrary.org/obo/MONDO_0011514 tricuspid atresia|tricuspid valve atresia|congenital agenesis of the tricuspid valve|congenital atresia of tricuspid valve ordo_morphological_anomaly MONDO:0011517 pseudohyperaldosteronism type 2 biolink:Disease mondo Orphanet:88660|UMLS:C1854631|MESH:C565359|OMIM:605115|SCTID:766937004|ICD10:I15.1 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. ORPHA:88660|MESH:C565359|http://identifiers.org/omim/605115|UMLS:C1854631|SNOMEDCT:766937004 http://purl.obolibrary.org/obo/MONDO_0011517 hypertension due to gain-of-function mutations in the mineralocorticoid receptor|hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy|hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy|early-onset hypertension with exacerbation in pregnancy ordo_disease MONDO:0011516 early response to neural induction gene biolink:Disease mondo OMIM:605105 http://identifiers.org/omim/605105 http://purl.obolibrary.org/obo/MONDO_0011516 Erni|early response to neural induction gene MONDO:0011519 autosomal dominant nonsyndromic deafness 23 biolink:Disease mondo ICD10:H90.3|MESH:C565357|UMLS:C1854594|OMIM:605192|DOID:0110553|GARD:0001708 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene. MESH:C565357|http://identifiers.org/omim/605192|UMLS:C1854594|DOID:0110553 http://purl.obolibrary.org/obo/MONDO_0011519 autosomal dominant nonsyndromic deafness caused by mutation in SIX1|autosomal dominant nonsyndromic deafness type 23|deafness, autosomal dominant nonsyndromic sensorineural 23|deafness, autosomal dominant 23; DFNA23|deafness, autosomal dominant 23|SIX1 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 23|autosomal dominant deafness 23|DFNA 23|DFNA23 MONDO:0011518 Wiedemann-Steiner syndrome biolink:Disease mondo ICD10:Q87.1|MESH:C536704|Orphanet:319182|GARD:0005565|OMIM:605130 Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language. ORPHA:319182|MESH:C536704|http://identifiers.org/omim/605130 http://purl.obolibrary.org/obo/MONDO_0011518 hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome|A syndrome of abnormal facies, short stature, and psychomotor retardation|Wiedemann-Steiner syndrome; WDSTS|hairy elbows, short stature, Facial Dysmorphism, and developmental delay|Wiedemann-Steiner syndrome|WDSTS|Wiedemann Grosse Dibbern syndrome gard_rare|ordo_malformation_syndrome UBERON:0034953 embryonic lymph sac biolink:AnatomicalEntity mondo A population of lymphatic endothelial cell precursors that will form the lymph vessels. http://purl.obolibrary.org/obo/UBERON_0034953 primary lymph sac HGNC:3054 DSPP biolink:OntologyClass mondo http://identifiers.org/hgnc/3054 MONDO:0011520 systemic lupus erythematosus, susceptibility to, 2 biolink:Disease mondo OMIM:605218|UMLS:C1854577 http://identifiers.org/omim/605218|UMLS:C1854577 http://purl.obolibrary.org/obo/MONDO_0011520 systemic lupus erythematosus, susceptibility to, type 2|SLEB2|susceptibility to systemic lupus erythematosus 2|systemic lupus erythematosus, susceptibility to, 2; SLEB2|systemic lupus erythematosus, susceptibility to, 2 predisposition HGNC:3052 DSP biolink:OntologyClass mondo http://identifiers.org/hgnc/3052 MONDO:0011522 hereditary spastic paraplegia 14 biolink:Disease mondo DOID:0110767|MESH:C537486|Orphanet:100995|ICD10:G11.4|UMLS:C1854568|OMIM:605229|GARD:0009589 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28. MESH:C537486|http://identifiers.org/omim/605229|UMLS:C1854568|DOID:0110767|ORPHA:100995 http://purl.obolibrary.org/obo/MONDO_0011522 spastic paraplegia 14|autosomal recessive spastic paraplegia type 14|hereditary spastic paraplegia type 14|autosomal recessive spastic paraplegia 14|SPG14|spastic paraplegia 14, autosomal recessive|spastic paraplegia 14, autosomal recessive; SPG14 ordo_disease MONDO:0011521 inflammatory bowel disease 7 biolink:Disease mondo MESH:C565353|OMIM:605225|DOID:0110882|UMLS:C1854573 An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36. MESH:C565353|http://identifiers.org/omim/605225|UMLS:C1854573|DOID:0110882 http://purl.obolibrary.org/obo/MONDO_0011521 inflammatory bowel disease 7; IBD7|inflammatory bowel disease 7|IBD7|inflammatory bowel disease type 7 MONDO:0011524 Dianzani autoimmune lymphoproliferative disease biolink:Disease mondo Orphanet:275523|ICD10:D47.9|OMIM:605233|MESH:C535950|SCTID:721093000|UMLS:C2931071|GARD:0009797 Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. http://identifiers.org/omim/605233|UMLS:C2931071|MESH:C535950|ORPHA:275523|SNOMEDCT:721093000 http://purl.obolibrary.org/obo/MONDO_0011524 Dianzani autoimmune lymphoproliferative syndrome|Dianzani autoimmune lymphoproliferative disease|Dianzani form of autoimmune lymphoproliferative disease|autoimmune lymphoproliferative syndrome without FAS mutations|DALD ordo_disease MONDO:0011523 Bardet-Biedl syndrome 6 biolink:Disease mondo UMLS:C1858054|ICD10:Q87.89|DOID:0110128|OMIM:605231|MESH:C565738|GARD:0010205 DOID:0110128|http://identifiers.org/omim/605231|MESH:C565738|UMLS:C1858054 http://purl.obolibrary.org/obo/MONDO_0011523 BBS6|Bardet-Biedl syndrome 6|Bardet-Biedl syndrome 6; BBS6|Bardet-Biedl syndrome type 6 gard_rare HGNC:3057 DTNA biolink:OntologyClass mondo http://identifiers.org/hgnc/3057 MONDO:0011504 NDE1-related microhydranencephaly biolink:Disease mondo Orphanet:443162|GARD:0010216|UMLS:C1857977|OMIM:605013|MESH:C537555|ICD10:Q04.8 NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. ORPHA:443162|MESH:C537555|UMLS:C1857977|http://identifiers.org/omim/605013 http://purl.obolibrary.org/obo/MONDO_0011504 microhydranencephaly|microhydranencephaly; MHAC|MHAC|hydranencephaly and microcephaly ordo_malformation_syndrome MONDO:0011503 cortisone reductase deficiency 1 biolink:Disease mondo UMLS:C3551716|NCIT:C131849|OMIM:604931|DOID:0090141 Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. UMLS:C3551716|DOID:0090141|NCIT:C131849|http://identifiers.org/omim/604931 http://purl.obolibrary.org/obo/MONDO_0011503 H6PD cortisone reductase deficiency|cortisone reductase deficiency 1; CORTRD1|CORTRD1|cortisone reductase deficiency 1|hexose-6-phosphate dehydrogenase deficiency|cortisone reductase deficiency caused by mutation in H6PD|cortisone reductase deficiency type 1|apparent cortisone reductase deficiency UBERON:0007391 pelvic appendage cartilage tissue biolink:AnatomicalEntity mondo A cartilage tissue that is part of a pelvic appendage. http://purl.obolibrary.org/obo/UBERON_0007391 pelvic fin cartilage MONDO:0011506 familial infantile myoclonic epilepsy biolink:Disease mondo Orphanet:352582|ICD10:G40.3|OMIM:605021|UMLS:C0917800 ORPHA:352582|UMLS:C0917800|http://identifiers.org/omim/605021 http://purl.obolibrary.org/obo/MONDO_0011506 myoclonic epilepsy, familial infantile|FIME|familial infantile myoclonus epilepsy|myoclonic epilepsy, familial infantile; FIME|Eim ordo_disease UBERON:0007390 pectoral appendage cartilage tissue biolink:AnatomicalEntity mondo A cartilage tissue that is part of a pectoral appendage. http://purl.obolibrary.org/obo/UBERON_0007390 pectoral fin cartilage MONDO:0011505 familial hypobetalipoproteinemia 2 biolink:Disease mondo OMIM:605019|MESH:C565732|UMLS:C1857970|DOID:0111061 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene. DOID:0111061|UMLS:C1857970|http://identifiers.org/omim/605019|MESH:C565732 http://purl.obolibrary.org/obo/MONDO_0011505 hypobetalipoproteinemia, familial, 2|hypobetalipoproteinemia, familial, 2; FHBL2|combined familial hypolipidemia|hypobetalipoproteinemia caused by mutation in ANGPTL3|hypolipidemia, familial, combined|FHBL2|familial hypobetalipoproteinemia type 2|hypobetalipoproteinemia, familial, type 2|ANGPTL3 hypobetalipoproteinemia MONDO:0011508 lymphoma, non-Hodgkin, familial biolink:Disease mondo ICD9:202.80|SCTID:118601006|OMIM:605027 http://identifiers.org/omim/605027|SNOMEDCT:118601006 http://purl.obolibrary.org/obo/MONDO_0011508 non-Hodgkin lymphoma|lymphoma, non-Hodgkin, familial UBERON:0034971 aortic body biolink:AnatomicalEntity mondo one of several small clusters of chemoreceptors, baroreceptors, and supporting cells located along the aortic arch. http://purl.obolibrary.org/obo/UBERON_0034971 aortic glands|aortic bodies|Zuckerkandl's body UBERON:0034972 jugular body biolink:AnatomicalEntity mondo A nonchromaffin paraganglion located in the wall of the jugular bulb. http://purl.obolibrary.org/obo/UBERON_0034972 jugulotympanic body|glomus tympanicum|tympanic body|glomus jugulare MONDO:0011507 diabetes mellitus, congenital autoimmune biolink:Disease mondo MESH:C565730|UMLS:C1857958|OMIM:605026 UMLS:C1857958|http://identifiers.org/omim/605026|MESH:C565730 http://purl.obolibrary.org/obo/MONDO_0011507 diabetes mellitus, congenital autoimmune MONDO:0011509 low density lipoprotein cholesterol, mild elevation of biolink:Disease mondo OMIM:605028 http://identifiers.org/omim/605028 http://purl.obolibrary.org/obo/MONDO_0011509 low density lipoprotein cholesterol, mild elevation of|Ldlc, mild elevation of MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia biolink:Disease mondo OMIM:605040|UMLS:C1857942|MESH:C565729 UMLS:C1857942|http://identifiers.org/omim/605040|MESH:C565729 http://purl.obolibrary.org/obo/MONDO_0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia|Chzam MONDO:0011510 Bohring-Opitz syndrome biolink:Disease mondo MESH:C537419|ICD10:Q87.8|UMLS:C0796232|SCTID:720565000|OMIM:605039|GARD:0010140|NCIT:C131533|Orphanet:97297 Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. MESH:C537419|ORPHA:97297|http://identifiers.org/omim/605039|NCIT:C131533|SNOMEDCT:720565000|UMLS:C0796232 http://purl.obolibrary.org/obo/MONDO_0011510 C-like syndrome|Opitz trigonocephaly-like syndrome|Bohring-Opitz syndrome|Bos syndrome|Oberklaid-Danks syndrome|C-like syndrome|Opitz trigonocephaly-like syndrome|Bohring syndrome|BOHRING-Opitz syndrome; BOPS|BOPS ordo_malformation_syndrome|gard_rare UBERON:0034969 epithelial layer of duct biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034969 ductal epithelium|duct epithelium MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology biolink:Disease mondo UMLS:C1857933|MESH:C565728|OMIM:605055 UMLS:C1857933|http://identifiers.org/omim/605055|MESH:C565728 http://purl.obolibrary.org/obo/MONDO_0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology MONDO:0011512 Brooke-Spiegler syndrome biolink:Disease mondo UMLS:C1857941|SCTID:703531009|GARD:0010179|ICD9:239.2|DOID:0050693|Orphanet:79493|OMIM:605041 Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma. UMLS:C1857941|DOID:0050693|http://identifiers.org/omim/605041|ORPHA:79493|SNOMEDCT:703531009 http://purl.obolibrary.org/obo/MONDO_0011512 Brooke-Spiegler syndrome; BRSS|BRSS|Spiegler-Brooke syndrome|Bss|Brooke-Spiegler syndrome|CYLD cutaneous syndrome ordo_disease UBERON:0034980 jugular bulb biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034980 bulb of jugular vein UBERON:0007389 paired limb/fin cartilage biolink:AnatomicalEntity mondo A cartilage tissue that is part of a paired limb or fin. http://purl.obolibrary.org/obo/UBERON_0007389 UBERON:0034978 paraganglion (generic) biolink:AnatomicalEntity mondo A cluster of neuroendocrine cells derived from neural crest. Paraganglia may be chromaffin or nonchromaffin http://purl.obolibrary.org/obo/UBERON_0034978 paraganglia UBERON:0007386 pelvic appendage lymph vessel biolink:AnatomicalEntity mondo A lymphatic vessel that is part of a pelvic appendage. http://purl.obolibrary.org/obo/UBERON_0007386 MONDO:0011500 Becker nevus syndrome biolink:Disease mondo MESH:C565735|GARD:0003856|Orphanet:64755|UMLS:C1858042|OMIM:604919|ICD10:D22.5 Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual. MESH:C565735|http://identifiers.org/omim/604919|UMLS:C1858042|ORPHA:64755 http://purl.obolibrary.org/obo/MONDO_0011500 pigmentary hairy epidermal nevus|Becker nevus syndrome|hairy epidermal nevus syndrome ordo_disease|gard_rare UBERON:0007385 pectoral appendage lymph vessel biolink:AnatomicalEntity mondo A lymphatic vessel that is part of a pectoral appendage. http://purl.obolibrary.org/obo/UBERON_0007385 UBERON:0034979 nonchromaffin paraganglion biolink:AnatomicalEntity mondo A cluster of chemoreceptive and support cells associated with blood vessels and nerves. http://purl.obolibrary.org/obo/UBERON_0034979 UBERON:0007384 appendage lymph vessel biolink:AnatomicalEntity mondo A lymphatic vessel that is part of a limb/fin. http://purl.obolibrary.org/obo/UBERON_0007384 HGNC:3072 DUSP6 biolink:OntologyClass mondo http://identifiers.org/hgnc/3072 MONDO:0011502 Wolfram syndrome 2 biolink:Disease mondo OMIM:604928|ICD10:E13.8|MESH:C565733|UMLS:C1858028|DOID:0110630 Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene. UMLS:C1858028|MESH:C565733|DOID:0110630|http://identifiers.org/omim/604928 http://purl.obolibrary.org/obo/MONDO_0011502 Wolfram syndrome 2|CISD2 Wolfram syndrome|WFS2|Wolfram syndrome type 2|WOLFRAM syndrome 2; WFS2|Wolfram syndrome caused by mutation in CISD2 UBERON:0007383 enveloping layer of ectoderm biolink:AnatomicalEntity mondo Outermost layer of cells surrounding the embryo. http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer|EVL MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia biolink:Disease mondo GARD:0010290|MESH:C565734|UMLS:C1858032|OMIM:604922|ICD10:Q78.8|Orphanet:166277 Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. UMLS:C1858032|ORPHA:166277|MESH:C565734|http://identifiers.org/omim/604922 http://purl.obolibrary.org/obo/MONDO_0011501 cortical defects, WORMIAN bones, and dentinogenesis imperfecta|cortical defects wormian bones and dentinogenesis imperfecta|Suarez-Stickler syndrome gard_rare|ordo_malformation_syndrome CHEBI:17272 propionate biolink:ChemicalSubstance mondo The conjugate base of propionic acid; a key precursor in lipid biosynthesis. http://purl.obolibrary.org/obo/CHEBI_17272 metacetonate|propanoic acid, ion(1-)|propanoate|pseudoacetate|EtCO2 anion|methylacetate|propanate|ethylformate|propionate|carboxylatoethane|CH3-CH2-COO(-)|ethanecarboxylate|propanoate GO:0005976 polysaccharide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. http://purl.obolibrary.org/obo/GO_0005976 glycan metabolic process|glycan metabolism|polysaccharide metabolism|multicellular organismal polysaccharide metabolic process GO:0005977 glycogen metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolism GO:0005975 carbohydrate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. http://purl.obolibrary.org/obo/GO_0005975 multicellular organismal carbohydrate metabolic process|single-organism carbohydrate metabolic process|carbohydrate metabolism GO:0030936 transmembrane collagen trimer biolink:OntologyClass mondo Any collagen trimer that passes through a lipid bilayer membrane. http://purl.obolibrary.org/obo/GO_0030936 MACIT HP:0000077 Abnormality of the kidney biolink:PhenotypicFeature mondo SNOMEDCT_US:90708001|MSH:D007674|SNOMEDCT_US:44513007|UMLS:C0022658|UMLS:C0266292 An abnormality of the kidney. http://purl.obolibrary.org/obo/HP_0000077 Abnormal kidney|Renal anomaly|Renal anomalies|Abnormality of the kidney HP:0000079 Abnormality of the urinary system biolink:PhenotypicFeature mondo UMLS:C4021821 An abnormality of the urinary system. http://purl.obolibrary.org/obo/HP_0000079 Urinary tract abnormality|Urinary tract abnormalities|Urinary tract anomalies HP:0000078 Abnormality of the genital system biolink:PhenotypicFeature mondo UMLS:C0281966|UMLS:C0744356 An abnormality of the genital system. http://purl.obolibrary.org/obo/HP_0000078 Genital defects|Genital anomalies|Abnormality of the reproductive system|Genital abnormality|Genital abnormalities UBERON:0007418 neural decussation biolink:AnatomicalEntity mondo Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) http://purl.obolibrary.org/obo/UBERON_0007418 chiasm|decussation|neuraxis decussation|neuraxis chiasm|decussation of neuraxis|neuraxis chiasma|chiasma HP:0000071 Ureteral stenosis biolink:PhenotypicFeature mondo SNOMEDCT_US:95574003|UMLS:C0521618 The presence of a stenotic, i.e., constricted ureter. http://purl.obolibrary.org/obo/HP_0000071 Narrowing of the ureter UBERON:0007414 nucleus of midbrain tegmentum biolink:AnatomicalEntity mondo A nucleus of brain that spans a midbrain tegmentum. http://purl.obolibrary.org/obo/UBERON_0007414 tegmental nuclei|tegmental nucleus HP:0000074 Ureteropelvic junction obstruction biolink:PhenotypicFeature mondo UMLS:C0521619|SNOMEDCT_US:95575002|MSH:C537373 Blockage of urine flow from the renal pelvis to the proximal ureter. http://purl.obolibrary.org/obo/HP_0000074 Pelviureteric junction obstruction NCBITaxon:5478 [Candida] glabrata organism taxon mondo PMID:14654427|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5478 Candida glabrata|Cryptococcus glabratus|Torulopsis glabrata GO:0005984 disaccharide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any disaccharide, sugars composed of two monosaccharide units. http://purl.obolibrary.org/obo/GO_0005984 disaccharide metabolism HP:0000080 Abnormality of reproductive system physiology biolink:PhenotypicFeature mondo UMLS:C4021820|UMLS:C4020896 An abnormal functionality of the genital system. http://purl.obolibrary.org/obo/HP_0000080 Genital functional abnormality|Abnormality of genital physiology|Abnormality of reproductive system physiology HP:0000083 Renal insufficiency biolink:PhenotypicFeature mondo UMLS:C1565489|MSH:D051437|UMLS:C0035078|SNOMEDCT_US:42399005|UMLS:C1839604|SNOMEDCT_US:236423003 A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. http://purl.obolibrary.org/obo/HP_0000083 Renal failure|Renal failure in adulthood HP:0000050 Hypoplastic male external genitalia biolink:PhenotypicFeature mondo UMLS:C1852534 Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). http://purl.obolibrary.org/obo/HP_0000050 Hypoplastic male genitalia|Small male external genitalia|Underdeveloped male genitalia GO:0030901 midbrain development biolink:OntologyClass mondo The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles). http://purl.obolibrary.org/obo/GO_0030901 mesencephalon development GO:0005967 mitochondrial pyruvate dehydrogenase complex biolink:OntologyClass mondo Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase. http://purl.obolibrary.org/obo/GO_0005967 pyruvate dehydrogenase complex (lipoamide) HP:0000069 Abnormality of the ureter biolink:PhenotypicFeature mondo UMLS:C1840382 An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/HP_0000069 Ureter issue|Abnormality of the ureters|Ureteral anomalies CHEBI:29214 sulfonic acid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_29214 HSHO3|sulfonic acid|hydridohydroxidodioxidosulfur|Sulfonsaeure|acide sulfonique|sulphonic acid|[SHO2(OH)] CHEBI:32863 secondary amine biolink:ChemicalSubstance mondo A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups. http://purl.obolibrary.org/obo/CHEBI_32863 R2NH|sekundaeres Amin|secondary amines|Secondary amine GO:0005938 cell cortex biolink:OntologyClass mondo The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. http://purl.obolibrary.org/obo/GO_0005938 cell periphery|peripheral cytoplasm CHEBI:30217 helium atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_30217 helium|helio|Helium|helium|2He|He HP:0012091 Abnormality of pancreas physiology biolink:PhenotypicFeature mondo UMLS:C4023048 An anomaly of the function of the pancreas. http://purl.obolibrary.org/obo/HP_0012091 CHEBI:32877 primary amine biolink:ChemicalSubstance mondo A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group. http://purl.obolibrary.org/obo/CHEBI_32877 Primary monoamine|primary amines|RCH2NH2|R-NH2|primaeres Amin|Primary amine HP:0012093 Abnormality of endocrine pancreas physiology biolink:PhenotypicFeature mondo UMLS:C4023047 A function abnormality of the endocrine pancreas. http://purl.obolibrary.org/obo/HP_0012093 GO:0005911 cell-cell junction biolink:OntologyClass mondo A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. http://purl.obolibrary.org/obo/GO_0005911 intercellular junction GO:0042981 regulation of apoptotic process biolink:OntologyClass mondo Any process that modulates the occurrence or rate of cell death by apoptotic process. http://purl.obolibrary.org/obo/GO_0042981 apoptosis regulator activity|regulation of apoptosis HP:0000099 Glomerulonephritis biolink:PhenotypicFeature mondo UMLS:C0017658|SNOMEDCT_US:36171008|MSH:D005921 Inflammation of the renal glomeruli. http://purl.obolibrary.org/obo/HP_0000099 Glomerular nephritis HP:0000098 Tall stature biolink:PhenotypicFeature mondo SNOMEDCT_US:248328003|UMLS:C0241240 A height above that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/HP_0000098 Accelerated linear growth|Tall stature|Increased linear growth|Increased body height HP:0000090 Nephronophthisis biolink:PhenotypicFeature mondo UMLS:C0687120|SNOMEDCT_US:204958008 Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. http://purl.obolibrary.org/obo/HP_0000090 juvenile nephronophthisis NCBITaxon:5498 Cladosporium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5498 HP:0000093 Proteinuria biolink:PhenotypicFeature mondo SNOMEDCT_US:29738008|MSH:D011507|UMLS:C0033687 Increased levels of protein in the urine. http://purl.obolibrary.org/obo/HP_0000093 High urine protein levels|Protein in urine CHEBI:17245 carbon monoxide biolink:ChemicalSubstance mondo A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas. http://purl.obolibrary.org/obo/CHEBI_17245 Carbon monoxide|CARBON MONOXIDE|carbon monoxide|CO|[CO]|carbon(II) oxide|carbon monooxide|C#O HP:0000095 Abnormality of renal glomerulus morphology biolink:PhenotypicFeature mondo UMLS:C4025889 A structural anomaly of the glomerulus. http://purl.obolibrary.org/obo/HP_0000095 HP:0000096 Glomerulosclerosis biolink:PhenotypicFeature mondo UMLS:C0178664|SNOMEDCT_US:197661001|SNOMEDCT_US:82646005 Accumulation of scar tissue within the glomerulus. http://purl.obolibrary.org/obo/HP_0000096 Renal glomerular fibrosis CHEBI:29202 isocyanic acid biolink:ChemicalSubstance mondo A colourless, volatile, poisonous inorganic compound with the formula HNCO; the simplest stable chemical compound that contains carbon, hydrogen, nitrogen, and oxygen, the four most commonly-found elements in organic chemistry and biology. http://purl.obolibrary.org/obo/CHEBI_29202 HNCO|isozyansaeure|isocyanic acid|HN=C=O|[C(NH)O]|hydrogen isocyanate|isocyanate|isocyansaeure|methenamide|oxidoazanediidocarbon|carbimide|ICA HP:0012072 Aciduria biolink:PhenotypicFeature mondo UMLS:C0278026|SNOMEDCT_US:21806007 Excretion of urine with an acid pH. http://purl.obolibrary.org/obo/HP_0012072 GO:0042995 cell projection biolink:OntologyClass mondo A prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0042995 cellular process|cell process|cellular projection GO:0005929 cilium biolink:OntologyClass mondo A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. http://purl.obolibrary.org/obo/GO_0005929 primary cilium|eukaryotic flagellum|flagellum|microtubule-based flagellum UBERON:0007425 decussation of diencephalon biolink:AnatomicalEntity mondo A neural decussation that is part of a diencephalon. http://purl.obolibrary.org/obo/UBERON_0007425 diencephalon decussation MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures biolink:Disease mondo UMLS:C4540192|OMIM:617710 http://identifiers.org/omim/617710|UMLS:C4540192 http://purl.obolibrary.org/obo/MONDO_0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures; NEMMLAS|NEMMLAS MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures biolink:Disease mondo UMLS:C4540188|OMIM:617709 http://identifiers.org/omim/617709|UMLS:C4540188 http://purl.obolibrary.org/obo/MONDO_0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures; NEDMAS|NEDMAS HP:0002652 Skeletal dysplasia biolink:PhenotypicFeature mondo SNOMEDCT_US:240190009|UMLS:C4280567|MSH:D010009|UMLS:C0029422|SNOMEDCT_US:105985007 A general term describing features characterized by abnormal development of bones and connective tissues. http://purl.obolibrary.org/obo/HP_0002652 Abnormal skeletal development MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease biolink:Disease mondo OMIM:617718|UMLS:C4540232 UMLS:C4540232|http://identifiers.org/omim/617718 http://purl.obolibrary.org/obo/MONDO_0060583 PLTEID|platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PLTEID HP:0002653 Bone pain biolink:PhenotypicFeature mondo SNOMEDCT_US:12584003|UMLS:C0151825 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. http://purl.obolibrary.org/obo/HP_0002653 Bone pain MONDO:0060582 auditory neuropathy-optic atrophy syndrome biolink:Disease mondo OMIM:617717|UMLS:C4521678|Orphanet:542585 UMLS:C4521678|ORPHA:542585|http://identifiers.org/omim/617717 http://purl.obolibrary.org/obo/MONDO_0060582 auditory neuropathy and optic atrophy|ANOA|auditory neuropathy and optic atrophy; ANOA ordo_disease HP:0002651 Spondyloepimetaphyseal dysplasia biolink:PhenotypicFeature mondo UMLS:C0432211|SNOMEDCT_US:254062008 http://purl.obolibrary.org/obo/HP_0002651 NCBITaxon:629 Yersinia organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_629 Yersinia NCBITaxon:620 Shigella organism taxon mondo GC_ID:11|PMID:26834722 http://purl.obolibrary.org/obo/NCBITaxon_620 HP:0000008 Abnormal morphology of female internal genitalia biolink:PhenotypicFeature mondo UMLS:C4025900 An abnormality of the female internal genitalia. http://purl.obolibrary.org/obo/HP_0000008 Abnormality of female internal genitalia HP:0000007 Autosomal recessive inheritance biolink:PhenotypicFeature mondo UMLS:C4020899|SNOMEDCT_US:258211005|UMLS:C0441748 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). http://purl.obolibrary.org/obo/HP_0000007 Autosomal recessive predisposition|Autosomal recessive|Autosomal recessive form MONDO:0060568 Pilarowski-Bjornsson syndrome biolink:Disease mondo Orphanet:529965|UMLS:C4540131|OMIM:617682 UMLS:C4540131|http://identifiers.org/omim/617682|ORPHA:529965 http://purl.obolibrary.org/obo/MONDO_0060568 developmental delay and speech apraxia with or without seizures|PILBOS|Pilarowski-Bjornsson syndrome; PILBOS ordo_malformation_syndrome HP:0000009 Functional abnormality of the bladder biolink:PhenotypicFeature mondo UMLS:C3806583 Dysfunction of the urinary bladder. http://purl.obolibrary.org/obo/HP_0000009 Poor bladder function MONDO:0060564 helix syndrome biolink:Disease mondo OMIM:617671|UMLS:C4522164 http://identifiers.org/omim/617671|UMLS:C4522164 http://purl.obolibrary.org/obo/MONDO_0060564 hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia|helix syndrome; helix|helix NCBITaxon:621 Shigella boydii organism taxon mondo PMID:16561743|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_621 HGNC:34399 UQCC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/34399 HP:0002664 Neoplasm biolink:PhenotypicFeature mondo MSH:D009369|SNOMEDCT_US:363346000|UMLS:C0027651|NCIT:C3262|SNOMEDCT_US:108369006|UMLS:C0006826 An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). http://purl.obolibrary.org/obo/HP_0002664 Abnormal tissue mass|Oncology|Oncological abnormality|Cancer|Tumour|Tumor|Neoplasia HP:0000002 Abnormality of body height biolink:PhenotypicFeature mondo UMLS:C4025901 Deviation from the norm of height with respect to that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height HP:0000001 All biolink:PhenotypicFeature mondo UMLS:C0444868 http://purl.obolibrary.org/obo/HP_0000001 HP:0000006 Autosomal dominant inheritance biolink:PhenotypicFeature mondo UMLS:C0443147|SNOMEDCT_US:263681008 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. http://purl.obolibrary.org/obo/HP_0000006 Autosomal dominant form|Autosomal dominant|Autosomal dominant type HP:0000005 Mode of inheritance biolink:PhenotypicFeature mondo UMLS:C1708511 The pattern in which a particular genetic trait or disorder is passed from one generation to the next. http://purl.obolibrary.org/obo/HP_0000005 Inheritance NCBITaxon:630 Yersinia enterocolitica organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_630 Bacterium enterocoliticum HP:0002637 Cerebral ischemia biolink:PhenotypicFeature mondo MSH:D002545|UMLS:C0917798|SNOMEDCT_US:287731003|UMLS:C0007786|SNOMEDCT_US:389100007 http://purl.obolibrary.org/obo/HP_0002637 Brain ischemia|Disruption of blood oxygen supply to brain|Cerebrovascular ischemia NCBITaxon:633 Yersinia pseudotuberculosis organism taxon mondo GC_ID:11|PMID:2223608|PMID:23919959 http://purl.obolibrary.org/obo/NCBITaxon_633 Shigella pseudotuberculosis|Pasteurella lymphangitidis|Bacterium pseudotuberculosis|Bacillus pseudotuberkulosis|Pasteurella pseudotuberculosis MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies biolink:Disease mondo Orphanet:528084|UMLS:C4540327|OMIM:617755 ORPHA:528084|http://identifiers.org/omim/617755|UMLS:C4540327 http://purl.obolibrary.org/obo/MONDO_0060596 NEDDFL|neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; NEDDFL ordo_disease NCBITaxon:632 Yersinia pestis organism taxon mondo GC_ID:11|PMID:15084509 http://purl.obolibrary.org/obo/NCBITaxon_632 Pestisella pestis|Pasteurella pestis|Yersinia pseudotuberculosis subsp. pestis|Bacillus pestis|Bacterium pestis HP:0002630 Fat malabsorption biolink:PhenotypicFeature mondo UMLS:C0554103|SNOMEDCT_US:197494007 Abnormality of the absorption of fat from the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0002630 HP:0002633 Vasculitis biolink:PhenotypicFeature mondo UMLS:C0042384|SNOMEDCT_US:31996006|MSH:D014657 Inflammation of blood vessel. http://purl.obolibrary.org/obo/HP_0002633 Angiitis|Inflammation of blood vessel GO:0030990 intraciliary transport particle biolink:OntologyClass mondo A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. http://purl.obolibrary.org/obo/GO_0030990 IFT complex|intraflagellar transport particle|intraflagellar transport complex HGNC:34383 PCARE biolink:OntologyClass mondo http://identifiers.org/hgnc/34383 NCBITaxon:423054 Eimeriorina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_423054 NCBITaxon:642 Aeromonas organism taxon mondo GC_ID:11|PMID:12807216|PMID:7520733|PMID:1380289|PMID:17012583|PMID:17158971|PMID:19567585|PMID:16560691|PMID:12067377|PMID:8347521|PMID:8934910|PMID:1380286|PMID:11155981|PMID:15388703 http://purl.obolibrary.org/obo/NCBITaxon_642 NCBITaxon:641 Vibrionaceae organism taxon mondo PMID:8427811|PMID:15143042|PMID:4954820|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_641 gamma-3 proteobacteria MONDO:0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction biolink:Disease mondo UMLS:C4540277|OMIM:617732 http://identifiers.org/omim/617732|UMLS:C4540277 http://purl.obolibrary.org/obo/MONDO_0060589 FPVEPD|facial palsy, congenital, with ptosis and velopharyngeal dysfunction; FPVEPD HP:0002648 Abnormality of calvarial morphology biolink:PhenotypicFeature mondo UMLS:C4280260|UMLS:C4025692 The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. http://purl.obolibrary.org/obo/HP_0002648 Abnormal cranium morphology|Abnormality of the shape of skull bones|Abnormality of cranial bone morphology|Abnormality of the shape of calvarium|Abnormality of skull bone morphology|Abnormally shaped skull|Abnormality of the shape of cranium NCBITaxon:644 Aeromonas hydrophila organism taxon mondo GC_ID:11|PMID:932684|PMID:16560691|PMID:23485124|PMID:19965992 http://purl.obolibrary.org/obo/NCBITaxon_644 Proteus ichthyosmius|Aeromonas liquefaciens|Bacterium hydrophilum|Pseudomonas hydrophila|Proteus hydrophilus|Bacillus hydrophilus fuscus|Aeromonas dourgesi|Bacillus hydrophilus MONDO:0060585 neuronopathy, distal hereditary motor, type 9 biolink:Disease mondo UMLS:C4540265|OMIM:617721 UMLS:C4540265|http://identifiers.org/omim/617721 http://purl.obolibrary.org/obo/MONDO_0060585 HMN9|neuropathy, distal hereditary motor, type 9|neuronopathy, distal hereditary motor, type IX; HMN9 MONDO:0060593 actn3 deficiency biolink:Disease mondo OMIM:617749 http://identifiers.org/omim/617749 http://purl.obolibrary.org/obo/MONDO_0060593 sprinting performance|ACTN3 deficiency|Alpha-actinin-3 deficiency MONDO:0060592 Sweeney-Cox syndrome biolink:Disease mondo UMLS:C4540299|OMIM:617746 http://identifiers.org/omim/617746|UMLS:C4540299 http://purl.obolibrary.org/obo/MONDO_0060592 Sweeney-Cox syndrome; SWCOS|SWCOS MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia biolink:Disease mondo UMLS:C4540293|OMIM:617744 http://identifiers.org/omim/617744|UMLS:C4540293 http://purl.obolibrary.org/obo/MONDO_0060591 immunodeficiency, developmental delay, and hypohomocysteinemia; IMDDHH|IMDDHH HP:0002644 Abnormality of pelvic girdle bone morphology biolink:PhenotypicFeature mondo UMLS:C4020847 An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. http://purl.obolibrary.org/obo/HP_0002644 Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle ECTO:5000000 exposure to geographic feature biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to geographic feature. http://purl.obolibrary.org/obo/ECTO_5000000 geographic feature exposure GO:0003354 negative regulation of cilium movement biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/GO_0003354 negative regulation of flagellum movement|negative regulation of microtubule-based flagellum movement GO:0003353 positive regulation of cilium movement biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/GO_0003353 positive regulation of flagellar movement|positive regulation of flagellum movement|positive regulation of microtubule-based flagellum movement GO:0003352 regulation of cilium movement biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/GO_0003352 regulation of flagellum movement|regulation of microtubule-based flagellum movement|regulation of flagellar movement MONDO:0060533 microcephaly, short stature, and limb abnormalities biolink:Disease mondo OMIM:617604|UMLS:C4539873 UMLS:C4539873|http://identifiers.org/omim/617604 http://purl.obolibrary.org/obo/MONDO_0060533 microcephaly, short stature, and limb abnormalities; MISSLA|MISSLA MONDO:0060532 congenital heart defects and skeletal malformations syndrome biolink:Disease mondo OMIM:617602|UMLS:C4539857 UMLS:C4539857|http://identifiers.org/omim/617602 http://purl.obolibrary.org/obo/MONDO_0060532 CHDSKM|congenital heart defects and skeletal malformations syndrome; CHDSKM HP:0000032 Abnormality of male external genitalia biolink:PhenotypicFeature mondo UMLS:C4025897 An abnormality of male external genitalia. http://purl.obolibrary.org/obo/HP_0000032 HP:0000035 Abnormal testis morphology biolink:PhenotypicFeature mondo SNOMEDCT_US:55631001|UMLS:C0266423 An anomaly of the testicle (the male gonad). http://purl.obolibrary.org/obo/HP_0000035 Abnormality of the testis|Anomaly of the testes HGNC:10397 RPS17 biolink:OntologyClass mondo http://identifiers.org/hgnc/10397 HP:0000037 Male pseudohermaphroditism biolink:PhenotypicFeature mondo MSH:D058490|UMLS:C0238395|SNOMEDCT_US:111332007 Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. http://purl.obolibrary.org/obo/HP_0000037 HP:0000036 Abnormality of the penis biolink:PhenotypicFeature mondo UMLS:C4025896 http://purl.obolibrary.org/obo/HP_0000036 Abnormality of the penis HP:0002693 Abnormality of the skull base biolink:PhenotypicFeature mondo UMLS:C4025688 An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. http://purl.obolibrary.org/obo/HP_0002693 Abnormality of cranial base|Abnormality of the skull base HP:0000031 Epididymitis biolink:PhenotypicFeature mondo MSH:D004823|SNOMEDCT_US:31070006|UMLS:C0014534 The presence of inflammation of the epididymis. http://purl.obolibrary.org/obo/HP_0000031 GO:0030964 NADH dehydrogenase complex biolink:OntologyClass mondo An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone. http://purl.obolibrary.org/obo/GO_0030964 NADH dehydrogenase complex (plastoquinone)|plastid NADH dehydrogenase complex (plastoquinone)|Complex I|NADH:plastoquinone reductase complex|NADH dehydrogenase complex (quinone)|NADH dehydrogenase complex (ubiquinone) MONDO:0060527 maleylacetoacetate isomerase deficiency biolink:Disease mondo OMIM:617596|UMLS:C1291607 http://identifiers.org/omim/617596|UMLS:C1291607 http://purl.obolibrary.org/obo/MONDO_0060527 hypersuccinylacetonemia, mild|MAAI deficiency|MAAID|benign hypersuccinylacetonemia|maleylacetoacetate isomerase deficiency; MAAID NCBITaxon:662 Vibrio organism taxon mondo PMID:21296930|PMID:17978204|PMID:24409173|PMID:8590667|PMID:1371064|PMID:21057054|GC_ID:11|PMID:4935323|PMID:7520733 http://purl.obolibrary.org/obo/NCBITaxon_662 Pacinia|Beneckea|Listonella|Microspira NCBITaxon:666 Vibrio cholerae organism taxon mondo PMID:1015934|PMID:9272984|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_666 Vibrio cholerae-asiaticae|Vibrio albensis|Spirillum cholerae-asiaticae|Kommabacillus|Bacillus cholerae|Pacinia cholerae-asiaticae|Vibrio comma|Liquidivibrio cholerae|Microspira comma|Vibrio cholera|Bacillus cholerae-asiaticae|Vibrio cholerae bv. albensis|Bacillo virgola del Koch|Spirillum cholerae|Vibrio cholerae biovar albensis HP:0000044 Hypogonadotropic hypogonadism biolink:PhenotypicFeature mondo UMLS:C0271623|SNOMEDCT_US:33927004|MSH:D007006|UMLS:C3489396 Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/HP_0000044 Isolated hypogonadotropic hypogonadism|Low gonadotropins (secondary hypogonadism)|Hypogonadotrophic hypogonadism GO:0015349 thyroid hormone transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. http://purl.obolibrary.org/obo/GO_0015349 CHEBI:17295 L-phenylalanine biolink:ChemicalSubstance mondo The L-enantiomer of phenylalanine. http://purl.obolibrary.org/obo/CHEBI_17295 (S)-2-Amino-3-phenylpropionic acid|PHENYLALANINE|(S)-alpha-Amino-beta-phenylpropionic acid|(2S)-2-amino-3-phenylpropanoic acid|Phe|beta-phenyl-L-alanine|L-phenylalanine|L-Phenylalanine|3-phenyl-L-alanine|F NCBITaxon:1224679 Diphyllobothriidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1224679 GO:0003333 amino acid transmembrane transport biolink:OntologyClass mondo The process in which an amino acid is transported across a membrane. http://purl.obolibrary.org/obo/GO_0003333 amino acid membrane transport GO:0005996 monosaccharide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolism GO:0003332 negative regulation of extracellular matrix constituent secretion biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. http://purl.obolibrary.org/obo/GO_0003332 GO:0003331 positive regulation of extracellular matrix constituent secretion biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. http://purl.obolibrary.org/obo/GO_0003331 MONDO:0060556 joint laxity, short stature, and myopia biolink:Disease mondo UMLS:C4540020|Orphanet:527450|OMIM:617662 http://identifiers.org/omim/617662|UMLS:C4540020|ORPHA:527450 http://purl.obolibrary.org/obo/MONDO_0060556 joint laxity, short stature, and myopia; JLSM|JLSM ordo_malformation_syndrome NCBITaxon:672 Vibrio vulnificus organism taxon mondo PMID:1015934|GC_ID:11|PMID:8186099 http://purl.obolibrary.org/obo/NCBITaxon_672 Beneckea vulnifica GO:0003330 regulation of extracellular matrix constituent secretion biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. http://purl.obolibrary.org/obo/GO_0003330 MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 biolink:Disease mondo UMLS:C4540014|OMIM:617661 http://identifiers.org/omim/617661|UMLS:C4540014 http://purl.obolibrary.org/obo/MONDO_0060555 kynureninase deficiency, complete|vertebral, cardiac, renal, and limb defects syndrome 2; VCRL2|congenital NAD deficiency disorder 2|VCRL2 MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 biolink:Disease mondo UMLS:C4540004|OMIM:617660 UMLS:C4540004|http://identifiers.org/omim/617660 http://purl.obolibrary.org/obo/MONDO_0060554 VCRL1|3-hydroxyanthranilic acidemia|vertebral, cardiac, renal, and limb defects syndrome 1; VCRL1|congenital NAD deficiency Disorder 1 MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities biolink:Disease mondo OMIM:617668|UMLS:C4540052 UMLS:C4540052|http://identifiers.org/omim/617668 http://purl.obolibrary.org/obo/MONDO_0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities; NELABA|lipoyltransferase 2 deficiency|NELABA HP:0000011 Neurogenic bladder biolink:PhenotypicFeature mondo UMLS:C0005697|SNOMEDCT_US:398064005|MSH:D001750|SNOMEDCT_US:397732007 A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. http://purl.obolibrary.org/obo/HP_0000011 Lack of bladder control due to nervous system injury GO:0015318 inorganic molecular entity transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. http://purl.obolibrary.org/obo/GO_0015318 inorganic uptake permease activity|inorganic solute uptake transmembrane transporter activity HP:0000014 Abnormality of the bladder biolink:PhenotypicFeature mondo UMLS:C0149632 An abnormality of the urinary bladder. http://purl.obolibrary.org/obo/HP_0000014 HGNC:10379 MRPL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10379 MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay biolink:Disease mondo OMIM:617641|UMLS:C4539968 UMLS:C4539968|http://identifiers.org/omim/617641 http://purl.obolibrary.org/obo/MONDO_0060549 CAKUTHED|congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay; CAKUTHED GO:0003341 cilium movement biolink:OntologyClass mondo The directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/GO_0003341 ciliary motility|flagellar movement|flagellar motility|microtubule-based flagellum movement|flagellum movement|cilium beating MONDO:0060551 cerebellar atrophy, developmental delay, and seizures biolink:Disease mondo OMIM:617643|UMLS:C4539985 http://identifiers.org/omim/617643|UMLS:C4539985 http://purl.obolibrary.org/obo/MONDO_0060551 cerebellar atrophy, developmental delay, and seizures; CADEDS|CADEDS HP:0000022 Abnormality of male internal genitalia biolink:PhenotypicFeature mondo UMLS:C4025899 An abnormality of the male internal genitalia. http://purl.obolibrary.org/obo/HP_0000022 HP:0002686 Prenatal maternal abnormality biolink:PhenotypicFeature mondo UMLS:C4025690 http://purl.obolibrary.org/obo/HP_0002686 Maternal health problem MONDO:0060550 polydactyly, postaxial, type a7 biolink:Disease mondo OMIM:617642 http://identifiers.org/omim/617642 http://purl.obolibrary.org/obo/MONDO_0060550 PAPA7|polydactyly, postaxial, type A7; PAPA7 HP:0002683 Abnormality of the calvaria biolink:PhenotypicFeature mondo UMLS:C4280561|UMLS:C4025691 Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. http://purl.obolibrary.org/obo/HP_0002683 Abnormality of cranial vault|Abnormality of calvarium|Abnormality of cranium|Abnormality of the skullcap|Abnormality of the skull cap HP:0000023 Inguinal hernia biolink:PhenotypicFeature mondo MEDDRA:10022016|UMLS:C0019294|SNOMEDCT_US:396232000|MSH:D006552 Protrusion of the contents of the abdominal cavity through the inguinal canal. http://purl.obolibrary.org/obo/HP_0000023 hposlim_core HGNC:10387 RPS14 biolink:OntologyClass mondo http://identifiers.org/hgnc/10387 HP:0000025 Functional abnormality of male internal genitalia biolink:PhenotypicFeature mondo UMLS:C4025898 http://purl.obolibrary.org/obo/HP_0000025 HP:0000027 Azoospermia biolink:PhenotypicFeature mondo MSH:D053713|UMLS:C0004509|SNOMEDCT_US:48188009|SNOMEDCT_US:425558002 Absence of any measurable level of sperm in his semen. http://purl.obolibrary.org/obo/HP_0000027 Absent sperm in semen HGNC:10383 RPS10 biolink:OntologyClass mondo http://identifiers.org/hgnc/10383 MONDO:0011449 Salla disease biolink:Disease mondo SCTID:87074006|ICD10:E77.8|UMLS:C1096903|NCIT:C85067|MedDRA:10067531|OMIM:604369|Orphanet:309334|GARD:0004754 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. UMLS:C1096903|NCIT:C85067|ORPHA:309334|SNOMEDCT:87074006|http://identifiers.org/omim/604369|MEDDRA:10067531 http://purl.obolibrary.org/obo/MONDO_0011449 Salla disease|SD|sialuria, Finnish type|sialic acid storage disease|Salla disease; SD ordo_clinical_subtype|gard_rare MONDO:0011448 PPARG-related familial partial lipodystrophy biolink:Disease mondo GARD:0012600|ICD10:E88.1|DOID:0070204|OMIM:604367|Orphanet:79083 http://identifiers.org/omim/604367|DOID:0070204|ORPHA:79083 http://purl.obolibrary.org/obo/MONDO_0011448 lipodystrophy, familial partial, type 3|PPARG-related FPLD|familial partial lipodystrophy associated with PPARG mutations|familial partial lipodystrophy type 3|FPLD3|lipodystrophy, familial partial, associated with Pparg mutations|lipodystrophy, familial partial, type 3; FPLD3 ordo_disease MONDO:0011452 hypotrichosis 7 biolink:Disease mondo GARD:0008178|OMIM:604379|EFO:0009163|DOID:0110704|MESH:C536973 Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene. MESH:C536973|DOID:0110704|http://identifiers.org/omim/604379 http://purl.obolibrary.org/obo/MONDO_0011452 hypotrichosis, autosomal recessive|total Mari type hypotrichosis,|Wh/Ht|hypotrichosis, localized, autosomal recessive 2|hypotrichosis, total, Mari type|hypotrichosis 7; HYPT7|Mari type alopecia universalis congenita|hypotrichosis caused by mutation in LIPH|LIPH hypotrichosis|hypotrichosis 7|alopecia universalis congenita, Mari type|hypotrichosis type 7|woolly hair, autosomal recessive 2, with or without hypotrichosis|total hypotrichosis, Mari type|Lah2|HYPT7 MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 biolink:Disease mondo OMIM:604377 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene. http://identifiers.org/omim/604377 http://purl.obolibrary.org/obo/MONDO_0011451 SCO2 fatal infantile encephalocardiomyopathy|fatal infantile encephalocardiomyopathy caused by mutation in SCO2|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1|cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy|CEMCOX1|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; CEMCOX1|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1 MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome biolink:Disease mondo ICD10:Q87.2|Orphanet:228190|UMLS:C1858420|MESH:C565782|OMIM:604381 Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant. ORPHA:228190|UMLS:C1858420|MESH:C565782|http://identifiers.org/omim/604381 http://purl.obolibrary.org/obo/MONDO_0011454 patent arterial duct-bicuspid aortic valve-hand anomalies syndrome|patent ductus arteriosus and bicuspid aortic valve with hand anomalies ordo_malformation_syndrome MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia biolink:Disease mondo OMIM:604380|MESH:C565783|UMLS:C1858422 UMLS:C1858422|MESH:C565783|http://identifiers.org/omim/604380 http://purl.obolibrary.org/obo/MONDO_0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia MONDO:0011456 nephronophthisis 3 biolink:Disease mondo OMIM:604387|DOID:0111114|UMLS:C1858392|MESH:C565780 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. UMLS:C1858392|DOID:0111114|MESH:C565780|http://identifiers.org/omim/604387 http://purl.obolibrary.org/obo/MONDO_0011456 Nph3|NPHP3 nephronophthisis (disease)|NPH3|NPHP3|nephronophthisis type 3|nephronophthisis (disease) caused by mutation in NPHP3|nephronophthisis 3; NPHP3|nephronophthisis 3 UBERON:0007099 hyoid neural crest biolink:AnatomicalEntity mondo Cranial neural crest that migrates into the hyoid arch. http://purl.obolibrary.org/obo/UBERON_0007099 hyoid crest UBERON:0007098 mandibular neural crest biolink:AnatomicalEntity mondo Cranial neural crest that migrates into the mandibular arch. http://purl.obolibrary.org/obo/UBERON_0007098 MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia biolink:Disease mondo OMIM:604382|UMLS:C1858419|MESH:C565781 UMLS:C1858419|MESH:C565781|http://identifiers.org/omim/604382 http://purl.obolibrary.org/obo/MONDO_0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia MONDO:0011458 Leber congenital amaurosis 4 biolink:Disease mondo UMLS:C1858386|DOID:0110332|GARD:0009662|MESH:C565778|OMIM:604393|ICD10:H35.5 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene. UMLS:C1858386|MESH:C565778|DOID:0110332|http://identifiers.org/omim/604393 http://purl.obolibrary.org/obo/MONDO_0011458 amaurosis congenita of Leber, type 4|Leber congenital amaurosis type 4|Leber congenital amaurosis 4|Leber congenital amaurosis 4; LCA4|Leber congenital amaurosis caused by mutation in AIPL1|retinitis pigmentosa, juvenile, Aipl1-related|LCA4|cone-rod dystrophy, Aipl1-related|AIPL1 Leber congenital amaurosis gard_rare HP:0000633 Decreased lacrimation biolink:PhenotypicFeature mondo UMLS:C0235857 Abnormally decreased lacrimation, that is, reduced ability to produce tears. http://purl.obolibrary.org/obo/HP_0000633 Decreased tear secretion MONDO:0011457 ataxia - telangiectasia-like disorder biolink:Disease mondo SCTID:700058006|ICD10:G11.3|UMLS:CN239583|NCIT:C132224|DC:0000668|MESH:C565779|ICD9:334.8|OMIMPS:604391|Orphanet:251347 An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. ORPHA:251347|UMLS:CN239583|NCIT:C132224|MESH:C565779|SNOMEDCT:700058006 http://purl.obolibrary.org/obo/MONDO_0011457 ataxia - telangiectasia-like disorder|ataxia-telangiectasia-like disorder type 1|ATLD1|ATLD|ataxia-telangiectasia-like disorder 1 prototype_pattern|ordo_disease HP:0000632 Lacrimation abnormality biolink:PhenotypicFeature mondo UMLS:C4021801 Abnormality of tear production. http://purl.obolibrary.org/obo/HP_0000632 Abnormality of tear production HGNC:10472 RUNX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10472 MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 biolink:Disease mondo OMIM:604370 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene. http://identifiers.org/omim/604370 http://purl.obolibrary.org/obo/MONDO_0011450 susceptibility to familial breast-ovarian cancer 1|breast-ovarian cancer, familial, susceptibility to, 1; BROVCA1|BRCA1 hereditary breast ovarian cancer syndrome|breast-ovarian cancer, familial, susceptibility to, type 1|hereditary breast ovarian cancer syndrome caused by mutation in BRCA1|breast cancer, familial, susceptibility to, 1|ovarian cancer, familial, susceptibility to, 1|breast-ovarian cancer, familial, susceptibility to, 1|BROVCA1 predisposition HGNC:10471 RUNX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10471 HP:0000646 Amblyopia biolink:PhenotypicFeature mondo UMLS:C0002418|SNOMEDCT_US:387742006|MSH:D000550 Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. http://purl.obolibrary.org/obo/HP_0000646 Wandering eye|Lazy eye|Wandering eyes hposlim_core MONDO:0011438 acne (disease) biolink:Disease mondo OMIM:604324|EFO:0003894|ICD10:L70.2|ICD10:L70|ICD9:706.0|COHD:138826|HP:0001061|NCIT:C27195|DOID:6543|ICD10:L70.9|MTH:217 An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin. NCIT:C27195|http://identifiers.org/omim/604324|DOID:6543 http://purl.obolibrary.org/obo/MONDO_0011438 acne vulgaris|frontalis acne|acne, ADULT|acne|acne varioliformis MONDO:0011437 microcephaly 4, primary, autosomal recessive biolink:Disease mondo UMLS:C1858516|MESH:C565792|OMIM:604321|DOID:0070291 MESH:C565792|http://identifiers.org/omim/604321|DOID:0070291|UMLS:C1858516 http://purl.obolibrary.org/obo/MONDO_0011437 microcephaly 4, primary, autosomal recessive|microcephaly 4, primary, autosomal recessive; MCPH4|MCPH4 HP:0000648 Optic atrophy biolink:PhenotypicFeature mondo SNOMEDCT_US:76976005|MSH:D009896|UMLS:C0029124 Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. http://purl.obolibrary.org/obo/HP_0000648 Optic-nerve degeneration|Optic nerve atrophy hposlim_core MONDO:0011439 spinocerebellar ataxia type 12 biolink:Disease mondo NCIT:C154316|GARD:0010476|MESH:C565790|SCTID:719208005|OMIM:604326|Orphanet:98762|UMLS:C4304885|UMLS:C1858501|ICD10:G11.2|DOID:0050962 Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. UMLS:C4304885|MESH:C565790|DOID:0050962|http://identifiers.org/omim/604326|NCIT:C154316|SNOMEDCT:719208005|UMLS:C1858501|ORPHA:98762 http://purl.obolibrary.org/obo/MONDO_0011439 SCA12|spinocerebellar ataxia 12|spinocerebellar ataxia type 12|spinocerebellar ataxia 12; SCA12 ordo_disease NCBITaxon:1851469 Trichosporonales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1851469 MONDO:0011441 complex regional pain syndrome type 1 biolink:Disease mondo ICD9:337.21|OMIM:604335|Orphanet:99995|MedDRA:10064334|ICD9:733.7|ICD9:337.2|ICD9:337.29|EFO:1001147|MedDRA:10038249|SCTID:50642008|ICD10:M89.0|UMLS:C0034931|NCIT:C85042|DOID:1811|ICD9:337.20|MESH:D012019|ICD10:G90.5 Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb. DOID:1811|UMLS:C0034931|SNOMEDCT:50642008|MEDDRA:10064334|MESH:D012019|ORPHA:99995|NCIT:C85042|http://identifiers.org/omim/604335 http://purl.obolibrary.org/obo/MONDO_0011441 RND|CRPS I|reflex neurovascular dystrophy|complex regional pain syndrome type 1|RSDS|Complex regional pain syndrome I|reflex sympathetic dystrophy syndrome|CRPS1|Algodystrophy|reflex sympathetic dystrophy ordo_clinical_subtype MONDO:0011440 hypertension, essential, susceptibility to, 2 biolink:Disease mondo OMIM:604329 http://identifiers.org/omim/604329 http://purl.obolibrary.org/obo/MONDO_0011440 hypertension, essential, susceptibility to, type 2|Hyt2|hypertension, essential, susceptibility to, 2 predisposition MONDO:0011443 febrile seizures, familial, 4 biolink:Disease mondo OMIM:604352|MESH:C565788|UMLS:C1858493 Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene. UMLS:C1858493|MESH:C565788|http://identifiers.org/omim/604352 http://purl.obolibrary.org/obo/MONDO_0011443 febrile seizures, familial, 4; FEB4|febrile seizures, familial, type 4|convulsions, familial febrile, 4|febrile seizures, familial caused by mutation in ADGRV1|ADGRV1 febrile seizures, familial|febrile seizures, familial, 4|FEB4 MONDO:0011442 advanced sleep phase syndrome 1 biolink:Disease mondo DOID:0110011|UMLS:C3807327|OMIM:604348 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene. UMLS:C3807327|DOID:0110011|http://identifiers.org/omim/604348 http://purl.obolibrary.org/obo/MONDO_0011442 FASPS1|familial advanced sleep phase syndrome 1|advanced sleep phase syndrome, familial, 1; FASPS1|advanced sleep phase syndrome caused by mutation in PER2|advanced sleep phase syndrome, familial, 1|advanced sleep phase syndrome, familial, type 1|PER2 advanced sleep phase syndrome|advanced sleep phase syndrome type 1 MONDO:0011445 hereditary spastic paraplegia 11 biolink:Disease mondo DOID:0110764|OMIM:604360|NCIT:C148317|GARD:0004919|ICD10:G11.4|SCTID:715491000|Orphanet:2822 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene. DOID:0110764|http://identifiers.org/omim/604360|SNOMEDCT:715491000|UMLS:C2931821|NCIT:C148317|UMLS:C1858479|MESH:C538335|ORPHA:2822|MESH:C537483 http://purl.obolibrary.org/obo/MONDO_0011445 Nakamura Osame syndrome|autosomal recessive spastic paraplegia 11|spastic paraplegia 11|autosomal recessive spastic paraplegia complicated with thin corpus callosum|spastic paraplegia - intellectual deficit - thin corpus callosum|hereditary spastic paraplegia type 11|SPG11|SPG11 hereditary spastic paraplegia|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|spastic paraplegia 11, autosomal recessive; SPG11|spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum|autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum|spastic paraplegia-intellectual disability-thin corpus callosum syndrome|hereditary spastic paraplegia mental impairment and thin corpus callosum|hereditary spastic paraplegia caused by mutation in SPG11|spastic paraplegia 11, autosomal recessive|autosomal recessive spastic paraplegia type 11|HSP-TCC|Nakamura-Osame syndrome ordo_disease MONDO:0011444 Duane retraction syndrome 2 biolink:Disease mondo SCTID:128083007|OMIM:604356|GARD:0009966 Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene. SNOMEDCT:128083007|http://identifiers.org/omim/604356 http://purl.obolibrary.org/obo/MONDO_0011444 Duane retraction syndrome 2|CHN1 Duane retraction syndrome|Duane retraction syndrome 2; DURS2|Duane retraction syndrome caused by mutation in CHN1|Duane retraction syndrome type 2|Duane syndrome type 2|DURS2 gard_rare MONDO:0011447 obsolete epilepsy, familial focal, with variable foci biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011447 MONDO:0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders biolink:Disease mondo UMLS:C1858478|OMIM:604363|MESH:C565786 http://identifiers.org/omim/604363|UMLS:C1858478|MESH:C565786 http://purl.obolibrary.org/obo/MONDO_0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders HP:0012614 Abnormal urine cytology biolink:PhenotypicFeature mondo UMLS:C0587955|SNOMEDCT_US:310439007 An anomalous finding in the examination of the urine for cells. http://purl.obolibrary.org/obo/HP_0012614 MONDO:0023419 hyperprolinemia biolink:Disease mondo UMLS:C0268528|GARD:0002847|SCTID:59655002|ICD9:270.8 Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern. SNOMEDCT:59655002|UMLS:C0268528 http://purl.obolibrary.org/obo/MONDO_0023419 hyperprolinemia type 1|proline oxidase deficiency|proline hydrogenase deficiency gard_rare HGNC:10483 RYR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10483 HGNC:10484 RYR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10484 MONDO:0023415 congenital candidiasis biolink:Disease mondo MEDGEN:575892|SCTID:276672007|NCIT:C116811|UMLS:C0343875 A fungal infection by any of the Candida species that is present at birth. NCIT:C116811|UMLS:C0343875|SNOMEDCT:276672007 http://purl.obolibrary.org/obo/MONDO_0023415 Congenital Candidiasis|Congenital candidiasis|Congenital candidosis|congenital candidiasis HP:0000613 Photophobia biolink:PhenotypicFeature mondo UMLS:C4020887|UMLS:C0085636|MSH:D020795|SNOMEDCT_US:409668002|SNOMEDCT_US:246622003 Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. http://purl.obolibrary.org/obo/HP_0000613 Light hypersensitivity|Photodysphoria|Extreme sensitivity of the eyes to light hposlim_core MONDO:0011427 Ascaris lumbricoides infection, susceptibility to biolink:Disease mondo OMIM:604291 http://identifiers.org/omim/604291 http://purl.obolibrary.org/obo/MONDO_0011427 ascariasis, susceptibility to|Ascaris lumbricoides infection, susceptibility to predisposition MONDO:0011426 aceruloplasminemia biolink:Disease mondo Orphanet:48818|OMIM:604290|ICD10:G23.0|ICD9:277.6|GARD:0009499|SCTID:124224004|DOID:0050711 Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms. DOID:0050711|http://identifiers.org/omim/604290|ORPHA:48818|SNOMEDCT:124224004|MESH:C536004 http://purl.obolibrary.org/obo/MONDO_0011426 hemosiderosis, systemic, due to aceruloplasminemia|hereditary ceruloplasmin deficiency|familial apoceruloplasmin deficiency|systemic hemosiderosis due to aceruloplasminemia|aceruloplasminemia|ceruloplasmin deficiency|hypoceruloplasminemia gard_rare|ordo_disease MONDO:0011429 juvenile idiopathic arthritis biolink:Disease mondo ICD10:M08.3|MedDRA:10059177|ICD10:M08.2|COHD:75622|ICD9:714.33|MESH:D001171|ICD10:M08.1|ICD10:M08.0|OMIM:604302|ICD9:714.31|ICD9:714.32|DOID:676|Orphanet:92|ICD10:M08.9|ICD10:M08.40|ICD10:M08.8|ICD9:714.3|ICD10:M08.4|NCIT:C114357|SCTID:410502007 Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases). MEDDRA:10059177|DOID:676|UMLS:C0553662|NCIT:C114357|http://identifiers.org/omim/604302|ORPHA:92|UMLS:C1444838|MESH:D001171|SNOMEDCT:410502007 http://purl.obolibrary.org/obo/MONDO_0011429 pauciarticular onset juvenile chronic arthritis|acute juvenile rheumatoid arthritis|juvenile rheumatoid arthritis|systemic juvenile rheumatoid arthritis|pauciarticular juvenile arthritis|Juvenile idiopathic arthritis|rheumatoid arthritis, systemic juvenile|juvenile chronic arthritis|juvenile chronic polyarthritis|JIA|juvenile idiopathic arthritis|monarticular juvenile rheumatoid arthritis ordo_group_of_disorders MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 biolink:Disease mondo ICD10:Q82.4|DOID:0060783|OMIM:604292|MESH:C565799 Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. MESH:C565799|http://identifiers.org/omim/604292|DOID:0060783 http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3|ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3; EEC3|EEC3|EEC syndrome 3|EEC syndrome caused by mutation in TP63|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3|TP63 EEC syndrome HP:0000618 Blindness biolink:PhenotypicFeature mondo Fyler:4866|UMLS:C0456909|UMLS:C0271215|SNOMEDCT_US:65956007|MSH:D001766 Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation. http://purl.obolibrary.org/obo/HP_0000618 Legal blindness|Blindness|Total vision loss hposlim_core MONDO:0011430 pulverulent cataract biolink:Disease mondo UMLS:C1852438|DOID:0110235|ICD10:Q12.0|Orphanet:98986|UMLS:CN207240|Orphanet:98984|OMIM:604307|UMLS:C1833118|MESH:C565133 A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33. http://identifiers.org/omim/604307|UMLS:C1852438|UMLS:C1833118|MESH:C565133|ORPHA:98986|ORPHA:98984|UMLS:CN207240|DOID:0110235 http://purl.obolibrary.org/obo/MONDO_0011430 cataract 2 multiple types with or without microcornea|cataract 2, multiple types|cataract 2 multiple types|CTRCT2|cataract 2, multiple types, with or without microcornea|cataract 2, multiple types; CTRCT2|dusty cataract|pulverulent cataract|Coppock-like cataract|cataract, Coppock-like ordo_clinical_subtype MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type biolink:Disease mondo Orphanet:293725|UMLS:C1858538|OMIM:604314|MESH:C565797 http://identifiers.org/omim/604314|ORPHA:293725|UMLS:C1858538|MESH:C565797 http://purl.obolibrary.org/obo/MONDO_0011432 blepharophimosis with facial and genital anomalies and mental retardation|BMRS, Verloes type|blepharophimosis with facial and genital anomalies and intellectual disability|BMRS type V|blepharophimosis-intellectual disability syndrome type V|blepharophimosis-mental retardation syndrome, Verloes type|blepharophimosis-intellectual disability syndrome, Verloes type ordo_malformation_syndrome MONDO:0011431 MASS syndrome biolink:Disease mondo GARD:0008489|Orphanet:99715|MESH:C536030|OMIM:604308|UMLS:C1858556 MASS (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms. http://identifiers.org/omim/604308|UMLS:C1858556|MESH:C536030|ORPHA:99715 http://purl.obolibrary.org/obo/MONDO_0011431 OCTD|MASS syndrome|MASS phenotype|Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings|overlap connective tissue disease gard_rare MONDO:0011434 PSORS5 biolink:Disease mondo OMIM:604316 http://identifiers.org/omim/604316 http://purl.obolibrary.org/obo/MONDO_0011434 psoriasis 5, susceptibility to; PSORS5|psoriasis 5, susceptibility to|PSORS5 MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome biolink:Disease mondo UMLS:C1858537|MESH:C565796|OMIM:604315 http://identifiers.org/omim/604315|UMLS:C1858537|MESH:C565796 http://purl.obolibrary.org/obo/MONDO_0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome|anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 biolink:Disease mondo Orphanet:98920|UMLS:C1858517|SCTID:711483003|ICD10:G12.2|MESH:C536880|ICD9:335.19|DOID:0111064|OMIM:604320|GARD:0008592 Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. MESH:C536880|http://identifiers.org/omim/604320|SNOMEDCT:711483003|UMLS:C1858517|DOID:0111064|ORPHA:98920 http://purl.obolibrary.org/obo/MONDO_0011436 spinal muscular atrophy, distal, autosomal recessive, 1; DSMA1|HMN 6|spinal muscular atrophy caused by mutation in IGHMBP2|spinal muscular atrophy with respiratory distress 1|spinal muscular atrophy, diaphragmatic|autosomal recessive spinal muscular atrophy with respiratory distress|SMARD1|Hmn6|autosomal recessive distal spinal muscular atrophy type 1|dSMA1|SIANRF|diaphragmatic spinal muscular atrophy|neuronopathy, distal hereditary motor, type VI|severe infantile axonal neuropathy with respiratory failure type 1|spinal muscular atrophy, distal, autosomal recessive, type 1|spinal muscular atrophy with respiratory distress type 1|neuronopathy, distal hereditary motor, type 6|distal hereditary motor neuropathy type 6|DSMA1|spinal muscular atrophy, distal, autosomal recessive, 1|distal-HMN type 6|IGHMBP2 spinal muscular atrophy|neuronopathy, Severe infantile axonal, with respiratory failure|severe infantile axonal neuropathy with respiratory failure|dHMN6|HMN VI ordo_disease MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations biolink:Disease mondo DOID:0070293|UMLS:C1858535|OMIM:604317|MESH:C565794 MESH:C565794|http://identifiers.org/omim/604317|DOID:0070293|UMLS:C1858535 http://purl.obolibrary.org/obo/MONDO_0011435 MCPH2|microcephaly 2, primary, autosomal recessive, with or without cortical malformations; MCPH2|microcephaly 2, primary, autosomal recessive, with or without cortical malformations HP:0000610 Abnormal choroid morphology biolink:PhenotypicFeature mondo UMLS:C0008521|UMLS:C4025836|MSH:D015862 Any structural abnormality of the choroid. http://purl.obolibrary.org/obo/HP_0000610 Abnormality of the choroid|Choroid disease hposlim_core HGNC:10457 RS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10457 UBERON:0019042 reproductive system mucosa biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019042 genital mucosa HGNC:22448 NOBOX biolink:OntologyClass mondo http://identifiers.org/hgnc/22448 MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 biolink:Disease mondo MESH:C565809|OMIM:604233|UMLS:C1858672 MESH:C565809|http://identifiers.org/omim/604233|UMLS:C1858672 http://purl.obolibrary.org/obo/MONDO_0011416 GEFSP1|Gefs+, type 1|generalized epilepsy with febrile seizures plus, type 1; GEFSP1|generalized epilepsy with febrile seizures plus, type 1 MONDO:0011415 Leber congenital amaurosis 3 biolink:Disease mondo ICD10:H35.5|MESH:C565814|DOID:0110331|OMIM:604232|GARD:0009661 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene. DOID:0110331|MESH:C565814|http://identifiers.org/omim/604232 http://purl.obolibrary.org/obo/MONDO_0011415 Leber congenital amaurosis caused by mutation in SPATA7|Leber congenital amaurosis 3|retinitis pigmentosa, juvenile, Spata7-related|Leber congenital amaurosis 3; LCA3|amaurosis congenita of Leber, type 3|Leber congenital amaurosis type 3|SPATA7 Leber congenital amaurosis|LCA3 gard_rare MONDO:0011418 dyslexia, susceptibility to, 3 biolink:Disease mondo OMIM:604254 http://identifiers.org/omim/604254 http://purl.obolibrary.org/obo/MONDO_0011418 dyslexia, susceptibility to, 3; DYX3|dyslexia, susceptibility to, 3|DYX3 predisposition MONDO:0011417 hemochromatosis type 3 biolink:Disease mondo DOID:0111030|OMIM:604250|Orphanet:225123|SCTID:719974003|UMLS:C1858664|MESH:C537248|GARD:0010093|ICD10:E83.1 Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. MESH:C537248|ORPHA:225123|DOID:0111030|http://identifiers.org/omim/604250|SNOMEDCT:719974003|UMLS:C1858664 http://purl.obolibrary.org/obo/MONDO_0011417 hemochromatosis, type 3; HFE3|TFR2-related hemochromatosis|TFR2 hereditary hemochromatosis|hemochromatosis due to defect in transferrin receptor 2|HFE3|hemochromatosis, type 3|hemochromatosis due to defect in transferrin receptor 2|hereditary hemochromatosis caused by mutation in TFR2 ordo_disease|gard_rare HP:0000625 Eyelid coloboma biolink:PhenotypicFeature mondo UMLS:C0521573|SNOMEDCT_US:95202004 A short discontinuity of the margin of the lower or upper eyelid. http://purl.obolibrary.org/obo/HP_0000625 Full thickness defect of the eyelid|Notched eyelid|Cleft eyelid|Eyelid coloboma hposlim_core MONDO:0011419 camera-Marugo-Cohen syndrome biolink:Disease mondo UMLS:C1858661|MESH:C537964|OMIM:604257|GARD:0008413 MESH:C537964|http://identifiers.org/omim/604257|UMLS:C1858661 http://purl.obolibrary.org/obo/MONDO_0011419 camera-Marugo-Cohen syndrome|obesity, intellectual disability, body asymmetry, and muscle weakness|camera Marugo Cohen syndrome|obesity, mental retardation, body asymmetry, and muscle weakness gard_rare MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 biolink:Disease mondo UMLS:C3276276|ICD10:E88.8|DOID:0050768|GARD:0001459|OMIM:604273 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene. http://identifiers.org/omim/604273|UMLS:C3276276|DOID:0050768 http://purl.obolibrary.org/obo/MONDO_0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1|MC5DN1|mitochondrial complex V (ATP synthase) deficiency, nuclear type 1; MC5DN1|ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency|mitochondrial complex V deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type|Complex 5 mitochondrial respiratory chain deficiency|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2 gard_rare|prototype_pattern MONDO:0011420 short stature due to partial GHR deficiency biolink:Disease mondo ICD10:E34.3|MESH:C565805|Orphanet:314802|OMIM:604271 Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. http://identifiers.org/omim/604271|ORPHA:314802|MESH:C565805 http://purl.obolibrary.org/obo/MONDO_0011420 increased responsiveness to Growth hormone|short stature due to partial growth hormone receptor deficiency|Growth hormone, insensitivity to, partial|GHIP|growth hormone insensitivity, partial; GHIP|growth hormone insensitivity, partial|Growth hormone deficiency, isolated, partial ordo_disease MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E biolink:Disease mondo DOID:0110279|ICD10:G71.0|Orphanet:119|OMIM:604286|GARD:0003851|GARD:0000870|SCTID:718850008 Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. DOID:0110279|SNOMEDCT:718850008|http://identifiers.org/omim/604286|ORPHA:119 http://purl.obolibrary.org/obo/MONDO_0011423 beta-sarcoglycanopathy|muscular dystrophy, limb-girdle, type 2E|LGMD2E|limb-girdle muscular dystrophy type 2E|muscular dystrophy, limb-girdle, type 2E; LGMD2E|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB|muscular dystrophy limb-girdle with beta-sarcoglycan deficiency|Beta-sarcoglycan limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|SGCB autosomal recessive limb-girdle muscular dystrophy gard_rare|ordo_disease MONDO:0011422 autosomal recessive proximal renal tubular acidosis biolink:Disease mondo UMLS:C1970309|Orphanet:93607|OMIM:604278|MESH:C567038 Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. http://identifiers.org/omim/604278|ORPHA:93607|UMLS:C1970309|MESH:C567038 http://purl.obolibrary.org/obo/MONDO_0011422 renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability|RTA, proximal, autosomal recessive|proximal renal tubular acidosis, autosomal recessive|renal tubular acidosis, proximal, with ocular abnormalities and mental retardation|proximal renal tubular acidosis with ocular abnormalities and intellectual disability|AR pRTA ordo_clinical_subtype HP:0000622 Blurred vision biolink:PhenotypicFeature mondo SNOMEDCT_US:246636008|SNOMEDCT_US:111516008|UMLS:C0344232 Lack of sharpness of vision resulting in the inability to see fine detail. http://purl.obolibrary.org/obo/HP_0000622 Blurred vision hposlim_core MONDO:0011425 dilated cardiomyopathy 1H biolink:Disease mondo ICD10:I42.0|MESH:C536277|DOID:0110429|OMIM:604288|UMLS:C1858591 A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22. DOID:0110429|http://identifiers.org/omim/604288|UMLS:C1858591|MESH:C536277 http://purl.obolibrary.org/obo/MONDO_0011425 CMD1H|cardiomyopathy, dilated, with conduction defect|cardiomyopathy, dilated, 1H|dilated cardiomyopathy type 1H|cardiomyopathy, dilated, 1H; CMD1H|dilated cardiomyopathy with conduction defect MONDO:0011424 Carney triad biolink:Disease mondo NCIT:C94833|UMLS:C1858592|OMIM:604287|SCTID:733492003|Orphanet:139411|GARD:0010924|MESH:C565803|ICD10:D44.8 Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas. MESH:C565803|http://identifiers.org/omim/604287|ORPHA:139411|UMLS:C1858592|SNOMEDCT:733492003|NCIT:C94833 http://purl.obolibrary.org/obo/MONDO_0011424 Carney triad|gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma ordo_disease|gard_rare HGNC:10468 RTN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10468 UBERON:0034670 palatal taste bud biolink:AnatomicalEntity mondo A taste bud that is located on the soft palate, in the roof of the mouth. http://purl.obolibrary.org/obo/UBERON_0034670 taste bud of palate MONDO:0023472 chondrodysplasia situs inversus imperforate anus polydactyly biolink:Disease mondo GARD:0001299 http://purl.obolibrary.org/obo/MONDO_0023472 impossible syndrome gard_rare MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis biolink:Disease mondo OMIM:604864|UMLS:C1858079|MESH:C565740|Orphanet:93279|SCTID:254064009|ICD9:755.63|ICD10:Q77.7 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. MESH:C565740|http://identifiers.org/omim/604864|ORPHA:93279|UMLS:C1858079|SNOMEDCT:254064009 http://purl.obolibrary.org/obo/MONDO_0011496 OSCDP|osteoarthritis with mild chondrodysplasia; OSCDP|Namaqualand hip dysplasia|osteoarthritis with mild chondrodysplasia ordo_disease HGNC:10432 RPS6KA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10432 MONDO:0011495 obsolete Langerhans-cell histiocytosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011495 MONDO:0011498 schizophrenia 9 biolink:Disease mondo UMLS:C1858050|DOID:0070085|OMIM:604906 A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2. http://identifiers.org/omim/604906|DOID:0070085|UMLS:C1858050 http://purl.obolibrary.org/obo/MONDO_0011498 schizophrenia 9 with or without an affective disorder|schizophrenia 9|schizophrenia 9; SCZD9|schizophrenia susceptibility locus, chromosome 1Q42-related|SCZD9|schizophrenia type 9 MONDO:0011497 hereditary North American Indian childhood cirrhosis biolink:Disease mondo Orphanet:168583|UMLS:C1858051|MESH:C565737|ICD10:K74.6|OMIM:604901|SCTID:699189004 Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence. SNOMEDCT:699189004|MESH:C565737|http://identifiers.org/omim/604901|ORPHA:168583|UMLS:C1858051 http://purl.obolibrary.org/obo/MONDO_0011497 NORTH American Indian childhood cirrhosis; NAIC|NAIC|NORTH American Indian childhood cirrhosis ordo_clinical_subtype MONDO:0011499 Okamoto syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:2729|OMIM:604916|SCTID:722065002|MESH:C565736|GARD:0004064|UMLS:C1858043 Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. ORPHA:2729|MESH:C565736|http://identifiers.org/omim/604916|SNOMEDCT:722065002|UMLS:C1858043 http://purl.obolibrary.org/obo/MONDO_0011499 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability|hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability|Okamoto syndrome ordo_malformation_syndrome|gard_rare MONDO:0011490 diffuse panbronchiolitis biolink:Disease mondo OMIM:604809|GARD:0008526|MedDRA:10062952|UMLS:C0878555|MESH:C536174|Orphanet:171700|ICD9:491.8|ICD10:J44.8|SCTID:430476004 Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis UMLS:C0878555|MEDDRA:10062952|http://identifiers.org/omim/604809|ORPHA:171700|SNOMEDCT:430476004|MESH:C536174 http://purl.obolibrary.org/obo/MONDO_0011490 PBLT|DPb|panbronchiolitis, diffuse ordo_disease|gard_rare MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type biolink:Disease mondo OMIM:604830|MESH:C565744|UMLS:C1858101 MESH:C565744|http://identifiers.org/omim/604830|UMLS:C1858101 http://purl.obolibrary.org/obo/MONDO_0011492 mandibulofacial dysostosis syndrome, Bauru type MONDO:0011491 EIG7 biolink:Disease mondo OMIM:604827 http://identifiers.org/omim/604827 http://purl.obolibrary.org/obo/MONDO_0011491 epilepsy, idiopathic generalized, susceptibility to, 7|epilepsy, idiopathic generalized, susceptibility to, 7; EIG7|EIG7|myoclonic epilepsy, juvenile, 2 predisposition MONDO:0011494 hyaluronan metabolism, defect 1N biolink:Disease mondo MESH:C565742|OMIM:604855|UMLS:C1858083 MESH:C565742|http://identifiers.org/omim/604855|UMLS:C1858083 http://purl.obolibrary.org/obo/MONDO_0011494 hyaluronan metabolism, defect type 1N|hyaluronan metabolism, defect IN MONDO:0011493 Stickler syndrome type 2 biolink:Disease mondo OMIM:604841|NCIT:C74985|MESH:C537493|UMLS:C1858084|GARD:0005020|ICD10:Q87.5|Orphanet:90654 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21). ORPHA:90654|NCIT:C74985|http://identifiers.org/omim/604841|UMLS:C1858084|MESH:C537493 http://purl.obolibrary.org/obo/MONDO_0011493 Stickler syndrome, vitreous type 2|Stickler syndrome caused by mutation in COL11A1|Stickler syndrome type II|STICKLER syndrome, type II; STL2|STL 2|STICKLER syndrome, type II|STL2|Stickler syndrome, beaded vitreous type|Stickler syndrome, type 2|COL11A1 Stickler syndrome ordo_clinical_subtype|gard_rare UBERON:0034681 vocal organ biolink:AnatomicalEntity mondo Any organ that is the primary organ of vocalization behavior. Examples: The laryngeal vocal cord (humans), the syrinx (birds). http://purl.obolibrary.org/obo/UBERON_0034681 NCBITaxon:5719 Parabasalia organism taxon mondo PMID:20093080|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5719 parabasalians|Parabasalidea|parabasalids MONDO:0011485 autosomal recessive congenital ichthyosis 5 biolink:Disease mondo ICD10:Q80.2|GARD:0009734|OMIM:604777|MESH:C537265|DOID:0060714 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13. MESH:C537265|DOID:0060714|http://identifiers.org/omim/604777 http://purl.obolibrary.org/obo/MONDO_0011485 type 3 lamellar ichthyosis|ichthyosis, congenital, autosomal recessive type 5|ARCI5|ichthyosis congenita III|ichthyosis congenita 3|ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive|ichthyosis, congenital, autosomal recessive 5; ARCI5|ichthyosis lamellar 3|autosomal recessive congenital ichthyosis type 5|autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis|ichthyosis, lamellar, 3, formerly|NNCI|LI3, formerly|ichthyosis, lamellar, 3|ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive|ichthyosis, congenital, autosomal recessive 5|lamellar ichthyosis, type 3 gard_rare MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 biolink:Disease mondo OMIM:604772|DOID:0060675|UMLS:C4053736|NCIT:C123414|ICD10:I47.2 Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene. DOID:0060675|http://identifiers.org/omim/604772|UMLS:C4053736|NCIT:C123414 http://purl.obolibrary.org/obo/MONDO_0011484 catecholaminergic polymorphic ventricular tachycardia type 1|ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy|ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy; CPVT1|CVPT1|ventricular tachycardia, stress-induced polymorphic|CPVT1 MONDO:0011487 Huntington disease-like 3 biolink:Disease mondo ICD10:G10|Orphanet:157946|UMLS:C1858114|OMIM:604802|MESH:C565747 Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. MESH:C565747|ORPHA:157946|http://identifiers.org/omim/604802|UMLS:C1858114 http://purl.obolibrary.org/obo/MONDO_0011487 HDL3|Huntington disease-like 3; HDL3|Huntington disease-like type 3|Huntington disease-like 3|Huntington disease-like neurodegenerative disorder, autosomal recessive ordo_disease MONDO:0011486 congenital muscular dystrophy 1B biolink:Disease mondo OMIM:604801|SCTID:764944006|DOID:0110634|ICD10:G71.2|MESH:C565748|Orphanet:98893|UMLS:C1858118 Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. SNOMEDCT:764944006|ORPHA:98893|MESH:C565748|DOID:0110634|http://identifiers.org/omim/604801|UMLS:C1858118 http://purl.obolibrary.org/obo/MONDO_0011486 muscular dystrophy, congenital, 1B; MDC1B|congenital muscular dystrophy type 1B|MDC1B|CMD1B|muscular dystrophy, congenital, 1B ordo_disease MONDO:0011489 hereditary spastic paraplegia 12 biolink:Disease mondo GARD:0009586|ICD10:G11.4|UMLS:C1858106|DOID:0110765|MESH:C537484|OMIM:604805|Orphanet:100993|SCTID:763374004 Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. UMLS:C1858106|ORPHA:100993|MESH:C537484|DOID:0110765|SNOMEDCT:763374004|http://identifiers.org/omim/604805 http://purl.obolibrary.org/obo/MONDO_0011489 SPG12|hereditary spastic paraplegia caused by mutation in RTN2|RTN2 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 12|spastic paraplegia 12, autosomal dominant|autosomal dominant spastic paraplegia type 12|spastic paraplegia 12|hereditary spastic paraplegia type 12|spastic paraplegia 12, autosomal dominant; SPG12 ordo_disease MONDO:0011488 microcephaly 3, primary, autosomal recessive biolink:Disease mondo MESH:C565746|OMIM:604804|UMLS:C1858108|DOID:0070286 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene. MESH:C565746|http://identifiers.org/omim/604804|DOID:0070286|UMLS:C1858108 http://purl.obolibrary.org/obo/MONDO_0011488 microcephaly 3, primary, autosomal recessive|microcephaly 3, primary, autosomal recessive; MCPH3|MCPH3|CDK5RAP2 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CDK5RAP2 MONDO:0011481 craniosynostosis 2 biolink:Disease mondo SCTID:720817008|ICD10:Q75.8|OMIM:604757|Orphanet:1541|GARD:0005538 A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. ORPHA:1541|http://identifiers.org/omim/604757|SNOMEDCT:720817008 http://purl.obolibrary.org/obo/MONDO_0011481 Warman-Mulliken-Hayward syndrome|craniosynostosis type 2|craniosynostosis, Boston-type|craniosynostosis 2|CRS2|craniosynostosis, Warman type|Warman Mulliken Hayward syndrome|craniosynostosis 2; CRS2|craniosynostosis Boston type|craniosynostosis Warman type|MSX2-related craniosynostosis ordo_malformation_syndrome MONDO:0011480 autosomal dominant nonsyndromic deafness 20 biolink:Disease mondo OMIM:604717|ICD10:H90.3|DOID:0110550|UMLS:C1858172|MESH:C565754 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene. MESH:C565754|DOID:0110550|http://identifiers.org/omim/604717|UMLS:C1858172 http://purl.obolibrary.org/obo/MONDO_0011480 DFNA26|ACTG1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 20|Dfna26|autosomal dominant deafness 20|deafness, autosomal dominant 20|DFNA20|deafness, autosomal dominant 20; DFNA20|autosomal dominant nonsyndromic deafness caused by mutation in ACTG1|deafness, autosomal dominant type 20 HGNC:10440 RPS7 biolink:OntologyClass mondo http://identifiers.org/hgnc/10440 MONDO:0011483 polycystic bone disease biolink:Disease mondo GARD:0008571|MESH:C536324|OMIM:604771|UMLS:C1858143 MESH:C536324|http://identifiers.org/omim/604771|UMLS:C1858143 http://purl.obolibrary.org/obo/MONDO_0011483 polycystic bone disease|Pcbd gard_rare MONDO:0011482 dilated cardiomyopathy 1I biolink:Disease mondo MESH:C565752|UMLS:C1858154|OMIM:604765|DOID:0110431|ICD10:I42.0 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene. MESH:C565752|DOID:0110431|http://identifiers.org/omim/604765|UMLS:C1858154 http://purl.obolibrary.org/obo/MONDO_0011482 CMD1I|cardiomyopathy, dilated, type 1I|DES familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in DES|cardiomyopathy, dilated, 1I|cardiomyopathy, dilated, 1I; CMD1I|dilated cardiomyopathy type 1I HP:0000657 Oculomotor apraxia biolink:PhenotypicFeature mondo UMLS:C3489733|SNOMEDCT_US:193662007|MSH:C537423|UMLS:C4020886 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. http://purl.obolibrary.org/obo/HP_0000657 Defective or absent horizontal voluntary eye movements|Ocular motor apraxia hposlim_core UBERON:0034696 fold of peritoneum biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034696 peritoneal outpouching|peritoneal pouch|peritoneal fold MONDO:0011474 progressive familial heart block type IB biolink:Disease mondo DOID:0111076|ICD9:426.6|GARD:0002610|MESH:C567037|SCTID:698250005|OMIM:604559 Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene. MESH:C567037|DOID:0111076|http://identifiers.org/omim/604559|SNOMEDCT:698250005 http://purl.obolibrary.org/obo/MONDO_0011474 progressive familial heart block, type IB|progressive familial heart block, type 1B|heart block progressive familial type 1B|progressive familial heart block, type IB; PFHB1B|Pfhbib|PFHB1B|TRPM4 progressive familial heart block|progressive familial heart block caused by mutation in TRPM4|progressive familial heart block type 1B MONDO:0011473 Leber congenital amaurosis 5 biolink:Disease mondo OMIM:604537|MESH:C536602|ICD10:H35.5|UMLS:C1858301|DOID:0110215|GARD:0009983 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene. UMLS:C1858301|MESH:C536602|DOID:0110215|http://identifiers.org/omim/604537 http://purl.obolibrary.org/obo/MONDO_0011473 Leber congenital amaurosis caused by mutation in LCA5|LCA5|LCA5 Leber congenital amaurosis|Leber congenital amaurosis type 5|Leber congenital amaurosis 5; LCA5|Leber congenital amaurosis 5|amaurosis congenita of Leber, type 5 gard_rare HGNC:10411 RPS24 biolink:OntologyClass mondo http://identifiers.org/hgnc/10411 MONDO:0011476 MHC class I deficiency biolink:Disease mondo DOID:0060009|OMIM:604571|GARD:0008427|UMLS:C1858266|ICD10:D81.6|SCTID:725136003|Orphanet:34592 Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. ORPHA:34592|UMLS:C1858266|SNOMEDCT:725136003|DOID:0060009|http://identifiers.org/omim/604571 http://purl.obolibrary.org/obo/MONDO_0011476 bare lymphocyte syndrome type I|immunodeficiency by defective expression of HLA class 1|BLSI|Bare lymphocyte syndrome, type 1|HLA Class 1 deficiency|HLA CLASS I deficiency|Bare lymphocyte syndrome type 1|BARE lymphocyte syndrome, type I|BLS type 1|immunodeficiency by defective expression of HLA class type 1|Bls, type 1|BLS, type I ordo_disease HP:0000651 Diplopia biolink:PhenotypicFeature mondo SNOMEDCT_US:24982008|MSH:D004172|UMLS:C0012569 Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. http://purl.obolibrary.org/obo/HP_0000651 Double vision hposlim_core MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 biolink:Disease mondo UMLS:C1858278|GARD:0009200|ICD10:G60.0|Orphanet:99956|SCTID:715800000|MESH:C535421|DOID:0110190|OMIM:604563 Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. UMLS:C1858278|ORPHA:99956|DOID:0110190|MESH:C535421|http://identifiers.org/omim/604563|SNOMEDCT:715800000 http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease, type 4B2; CMT4B2|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2|Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma|Charcot Marie Tooth disease type 4B2|CMT 4B2|Charcot-Marie-Tooth disease, type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2|Charcot-Marie-Tooth neuropathy type 4B2|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2|Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma|CMT4B2|SBF2 Charcot-Marie-Tooth disease type 4 ordo_disease|gard_rare MONDO:0011478 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia biolink:Disease mondo OMIM:604690|UMLS:C1858182|MESH:C565755 UMLS:C1858182|MESH:C565755|http://identifiers.org/omim/604690 http://purl.obolibrary.org/obo/MONDO_0011478 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia|Roca-Weidemann syndrome|growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia|Roca syndrome HGNC:10414 RPS26 biolink:OntologyClass mondo http://identifiers.org/hgnc/10414 MONDO:0011477 tooth agenesis, selective, 3 biolink:Disease mondo OMIM:604625|UMLS:C1970291|MESH:C567036 Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene. UMLS:C1970291|MESH:C567036|http://identifiers.org/omim/604625 http://purl.obolibrary.org/obo/MONDO_0011477 hypodontia/oligodontia 3|STHAG3|tooth agenesis, selective, 3|tooth agenesis caused by mutation in PAX9|PAX9 tooth agenesis|tooth agenesis, selective, type 3|tooth agenesis, selective, 3; STHAG3 MONDO:0011479 postural orthostatic tachycardia syndrome biolink:Disease mondo EFO:1000645|DOID:0111154|ICD10:I95.1|SCTID:8074002|OMIM:604715|Orphanet:443236 A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart. ORPHA:443236|DOID:0111154|SNOMEDCT:8074002|http://identifiers.org/omim/604715 http://purl.obolibrary.org/obo/MONDO_0011479 orthostatic intolerance due to NET deficiency|orthostatic intolerance|mitral valve prolapse syndrome|postural tachycardia syndrome due to NET deficiency|soldiers heart|familial orthostatic tachycardia due to norepinephrine transporter deficiency|orhtostatic intolerance|Soldiers heart|irritable heart|neurocirculatory asthenia ordo_disease HP:0012647 Abnormal inflammatory response biolink:PhenotypicFeature mondo UMLS:C4022805 Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response HP:0012649 Increased inflammatory response biolink:PhenotypicFeature mondo UMLS:C4022803 A abnormal increase in the inflammatory response to injury or infection. http://purl.obolibrary.org/obo/HP_0012649 MONDO:0011470 hyperlipidemia, combined, 2 biolink:Disease mondo MESH:C565766|UMLS:C1858308|OMIM:604499 MESH:C565766|http://identifiers.org/omim/604499|UMLS:C1858308 http://purl.obolibrary.org/obo/MONDO_0011470 hyperlipidemia, combined, 2|hyperlipidemia, combined, type 2|hyplip2|hyperlipidemia, familial combined, 2 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency biolink:Disease mondo UMLS:C1858302|ICD10:Q81.0|Orphanet:158668|GARD:0009705|SCTID:716699004|MESH:C536183|OMIM:604536 Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering. MESH:C536183|ORPHA:158668|SNOMEDCT:716699004|http://identifiers.org/omim/604536|UMLS:C1858302 http://purl.obolibrary.org/obo/MONDO_0011472 Mcgrath syndrome|ectodermal dysplasia - skin fragility syndrome|ectodermal dysplasia-skin fragility syndrome|McGrath syndrome|ectodermal dysplasia skin fragility syndrome|ectodermal dysplasia/skin fragility syndrome ordo_disease MONDO:0011471 inflammatory bowel disease 3 biolink:Disease mondo OMIM:604519|MESH:C565764|UMLS:C1858303|DOID:0110891 An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3. MESH:C565764|DOID:0110891|http://identifiers.org/omim/604519|UMLS:C1858303 http://purl.obolibrary.org/obo/MONDO_0011471 inflammatory bowel disease type 3|inflammatory bowel disease 3|inflammatory bowel disease 3; IBD3|IBD3 HP:0000668 Hypodontia biolink:PhenotypicFeature mondo SNOMEDCT_US:64969001|MSH:D000848|UMLS:C0020608 A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing. http://purl.obolibrary.org/obo/HP_0000668 Missing between one and six teeth|Failure of development of between one and six teeth hposlim_core HGNC:10418 RPS28 biolink:OntologyClass mondo http://identifiers.org/hgnc/10418 MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 biolink:Disease mondo ICD10:I42.8|UMLS:C1858379|OMIM:604400|DOID:0110074|MESH:C565776 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene. http://identifiers.org/omim/604400|UMLS:C1858379|DOID:0110074|MESH:C565776 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia, familial, type 5|ARVC5|arrhythmogenic right ventricular dysplasia type 5|TMEM43 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia, familial, 5|arrhythmogenic right ventricular cardiomyopathy 5|familial arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular dysplasia, familial, 5; ARVD5|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43|ARVD5 HGNC:10419 RPS29 biolink:OntologyClass mondo http://identifiers.org/hgnc/10419 CHEBI:64416 EC 1.3.1.43 (arogenate dehydrogenase) inhibitor biolink:ChemicalSubstance mondo An EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of arogenate dehydrogenase (EC 1.3.1.43). http://purl.obolibrary.org/obo/CHEBI_64416 EC 1.3.1.43 inhibitor|cyclohexadienyl dehydrogenase inhibitors|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitors|TyrA(a) inhibitors|arogenate dehydrogenase inhibitor|arogenate dehydrogenase (EC 1.3.1.43) inhibitors|L-arogenate:NAD+ oxidoreductase inhibitors|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitor|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitors|L-arogenate:NAD+ oxidoreductase inhibitor|arogenate dehydrogenase inhibitors|arogenate dehydrogenase (EC 1.3.1.43) inhibitor|TyrA(a) inhibitor|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitor|EC 1.3.1.43 (arogenate dehydrogenase) inhibitors|cyclohexadienyl dehydrogenase inhibitor|EC 1.3.1.43 inhibitors MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive biolink:Disease mondo UMLS:C1858353|OMIM:604431|Orphanet:538096|MESH:C565773 A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. UMLS:C1858353|ORPHA:538096|MESH:C565773|http://identifiers.org/omim/604431 http://purl.obolibrary.org/obo/MONDO_0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive ordo_disease MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome biolink:Disease mondo OMIM:604416|Orphanet:69126|GARD:0009176|UMLS:C1858361|SCTID:724015007|MESH:C536253|NCIT:C119055 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. UMLS:C1858361|ORPHA:69126|MESH:C536253|SNOMEDCT:724015007|http://identifiers.org/omim/604416|NCIT:C119055 http://purl.obolibrary.org/obo/MONDO_0011462 Papas|papa|papa syndrome|pyogenic STERILE arthritis, pyoderma gangrenosum, and acne|familial recurrent arthritis|pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne|pyogenic arthritis, pyoderma gangrenosum and acne|fra ordo_disease MONDO:0011465 infundibulocystic basal cell carcinoma biolink:Disease mondo UMLS:C1304297|DOID:4279|NCIT:C27540|MESH:C537655|OMIM:604451|GARD:0009788 UMLS:C1304297|DOID:4279|MESH:C537655|http://identifiers.org/omim/604451|NCIT:C27540 http://purl.obolibrary.org/obo/MONDO_0011465 basal cell carcinoma, infundibulocystic|skin infundibulocystic basal cell carcinoma|basal cell carcinoma with follicular differentiation gard_rare MONDO:0011464 spinocerebellar ataxia type 11 biolink:Disease mondo UMLS:C4304886|SCTID:719207000|ICD10:G11.8|UMLS:C1858351|OMIM:604432|DOID:0050961|Orphanet:98767|MESH:C565772|GARD:0010475 Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. SNOMEDCT:719207000|UMLS:C1858351|ORPHA:98767|UMLS:C4304886|DOID:0050961|MESH:C565772|http://identifiers.org/omim/604432 http://purl.obolibrary.org/obo/MONDO_0011464 spinocerebellar ataxia type 11|SCA11|spinocerebellar ataxia 11; SCA11|spinocerebellar ataxia 11 ordo_disease MONDO:0011467 obsolete human herpesvirus type 6, integrated biolink:Disease mondo MESH:C565771|OMIM:604474|UMLS:C1858340 UMLS:C1858340|MESH:C565771|http://identifiers.org/omim/604474 http://purl.obolibrary.org/obo/MONDO_0011467 human herpesvirus type 6, integrated MONDO:0011466 distal myopathy, Welander type biolink:Disease mondo GARD:0005552|ICD10:G71.0|OMIM:604454|Orphanet:603|UMLS:CN205368 Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. ORPHA:603|MESH:C536690|UMLS:CN205368|http://identifiers.org/omim/604454|UMLS:C2931290 http://purl.obolibrary.org/obo/MONDO_0011466 Welander distal myopathy, Swedish type|muscular dystrophy, distal, late-onset, autosomal dominant|WDM|Welander distal myopathy; WDM|distal myopathy, Swedish type|myopathy, distal, Swedish|Welander distal myopathy ordo_disease MONDO:0011469 congenital amegakaryocytic thrombocytopenia biolink:Disease mondo GARD:640|SCTID:716336002|DOID:0090118|NCIT:C115207|ICD10:D61.0|UMLS:C1327915|GARD:0000640|Orphanet:3319|MESH:C535982|OMIM:604498 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. ORPHA:3319|SNOMEDCT:716336002|NCIT:C115207|DOID:0090118|UMLS:C1327915|MESH:C535982|http://identifiers.org/omim/604498 http://purl.obolibrary.org/obo/MONDO_0011469 thrombocytopenia congenital amegakaryocytic|CAMT|amegakaryocytic thrombocytopenia, congenital|amegakaryocytic thrombocytopenia, congenital; CAMT|congenital amegakaryocytic thrombocytopenic purpura gard_rare|ordo_disease MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type biolink:Disease mondo Orphanet:90117|GARD:0010131|ICD10:G60.0|OMIM:604484|MESH:C535717 Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. UMLS:C1858338|ORPHA:90117|MESH:C535717|http://identifiers.org/omim/604484 http://purl.obolibrary.org/obo/MONDO_0011468 hereditary motor and sensory neuropathy, proximal type, formerly|HMSNP|neuropathy, hereditary motor and sensory, Okinawa type; HMSNO|hereditary motor and sensory neuropathy, proximal type|HMSNO|neuropathy, hereditary motor and sensory, Okinawa type ordo_disease HP:0012638 Abnormal nervous system physiology biolink:PhenotypicFeature mondo UMLS:C4022811 A functional anomaly of the nervous system. http://purl.obolibrary.org/obo/HP_0012638 Abnormality of nervous system physiology HP:0012639 Abnormal nervous system morphology biolink:PhenotypicFeature mondo UMLS:C4022810|Fyler:4300|Fyler:4135 A structural anomaly of the nervous system. http://purl.obolibrary.org/obo/HP_0012639 Abnormality of nervous system morphology|Abnormal nervous system morphology|Abnormal shape of nervous system MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 biolink:Disease mondo MESH:C565810|UMLS:C1858673|OMIM:604403 Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene. UMLS:C1858673|MESH:C565810|http://identifiers.org/omim/604403 http://purl.obolibrary.org/obo/MONDO_0011461 generalized epilepsy with febrile seizures plus, type 2|febrile seizures, familial caused by mutation in SCN1A|GEFSP2|SCN1A febrile seizures, familial|generalized epilepsy with febrile seizures plus, type 2; GEFSP2|Gefs+, type 2|febrile seizures, familial, 3A MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 biolink:Disease mondo UMLS:C1858378|DOID:0110075|MESH:C565775|ICD10:I42.8|OMIM:604401 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. UMLS:C1858378|DOID:0110075|MESH:C565775|http://identifiers.org/omim/604401 http://purl.obolibrary.org/obo/MONDO_0011460 arrhythmogenic right ventricular dysplasia, familial, 6|arrhythmogenic right ventricular cardiomyopathy 6|familial arrhythmogenic right ventricular dysplasia 6|ARVD6|arrhythmogenic right ventricular dysplasia, familial, 6; ARVD6|ARVC6|arrhythmogenic right ventricular dysplasia type 6 CL:0000526 afferent neuron biolink:Cell mondo FMA:87653 A neuron which conveys sensory information centrally from the periphery. http://purl.obolibrary.org/obo/CL_0000526 input neuron CL:0000527 efferent neuron biolink:Cell mondo A neuron which sends impulses peripherally to activate muscles or secretory cells. http://purl.obolibrary.org/obo/CL_0000527 output neuron CL:0000529 pigmented epithelial cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000529 UBERON:0009678 tooth row biolink:AnatomicalEntity mondo Anatomical cluster consisting of adjacent teeth constituting a row. http://purl.obolibrary.org/obo/UBERON_0009678 row of teeth|tooth rows|dental arcade HGNC:5542 IGHMBP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5542 UBERON:0009679 set of lower jaw teeth biolink:AnatomicalEntity mondo A tooth row that is part of a skeleton of lower jaw. http://purl.obolibrary.org/obo/UBERON_0009679 mandibular dental arcade|arcus dentalis inferior|lower dental arcade|set of all lower teeth|lower jaw teeth UBERON:0007010 cleaving embryo biolink:AnatomicalEntity mondo Organism at the cleavage stage. http://purl.obolibrary.org/obo/UBERON_0007010 UBERON:0009670 rectal lumen biolink:AnatomicalEntity mondo An anatomical space that surrounded_by a rectum. http://purl.obolibrary.org/obo/UBERON_0009670 lumen of rectum UBERON:0009671 nasal fin biolink:AnatomicalEntity mondo The nasal fin is an epithelial seam that develops by fusion between the epithelial linings of the medial and lateral nasal swellings. Shortly after its formation the nasal fin regresses and is replaced by mesenchyme, with exception of its most posterior portion which remains as the bucconasal membrane. http://purl.obolibrary.org/obo/UBERON_0009671 UBERON:0009672 oronasal membrane biolink:AnatomicalEntity mondo The oronasal membrane separates the oral cavity and nasal cavity. http://purl.obolibrary.org/obo/UBERON_0009672 bucconasal membrane UBERON:0009674 accessory XI nerve spinal component biolink:AnatomicalEntity mondo The spinal root of accessory nerve (or part) is firm in texture, and its fibers arise from the motor cells in the lateral part of the anterior column of the gray substance of the medulla spinalis as low as the fifth cervical nerve. Passing through the lateral funiculus of the medulla spinalis, they emerge on its surface and unite to form a single trunk, which ascends between the ligamentum denticulatum and the posterior roots of the spinal nerves; enters the skull through the foramen magnum, and is then directed to the jugular foramen, through which it passes, lying in the same sheath of dura mater as the vagus, but separated from it by a fold of the arachnoid. In the jugular foramen, it receives one or two filaments from the cranial part of the nerve, or else joins it for a short distance and then separates from it again. As its exit from the jugular foramen, it runs backward in front of the internal jugular vein in 66.6 per cent. of cases, and behind in it 33.3 per cent. The nerve then descends obliquely behind the Digastricus and Stylohyoideus to the upper part of the Sternocleidomastoideus; it pierces this muscle, and courses obliquely across the posterior triangle of the neck, to end in the deep surface of the Trapezius. As it traverses the Sternocleidomastoideus it gives several filaments to the muscle, and joins with branches from the second cervical nerve. In the posterior triangle it unites with the second and third cervical nerves, while beneath the Trapezius it forms a plexus with the third and fourth cervical nerves, and from this plexus fibers are distributed to the muscle. http://purl.obolibrary.org/obo/UBERON_0009674 spinal part of the accessory nerve UBERON:0009676 early telencephalic vesicle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009676 early telencephalic ventricle|early telencephalic vesicle HGNC:5541 IGHM biolink:OntologyClass mondo http://identifiers.org/hgnc/5541 NCBITaxon:5758 Entamoeba organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5758 NCBITaxon:5759 Entamoeba histolytica organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5759 NCBITaxon:5754 Acanthamoeba organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5754 NCBITaxon:5752 Heterolobosea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5752 Lobosa UBERON:0009668 ventral mesentery biolink:AnatomicalEntity mondo Ventral mesentery is the part of the peritoneum closest to the navel. http://purl.obolibrary.org/obo/UBERON_0009668 UBERON:0009669 embryonic cloacal lumen biolink:AnatomicalEntity mondo An anatomical space that surrounded_by a embryonic cloaca. http://purl.obolibrary.org/obo/UBERON_0009669 HGNC:10402 RPS19 biolink:OntologyClass mondo http://identifiers.org/hgnc/10402 NCBITaxon:5761 Naegleria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5761 UBERON:0009661 midbrain nucleus biolink:AnatomicalEntity mondo Nucleus located in the midbrain. http://purl.obolibrary.org/obo/UBERON_0009661 UBERON:0009662 hindbrain nucleus biolink:AnatomicalEntity mondo Nucleus located within the hindbrain. http://purl.obolibrary.org/obo/UBERON_0009662 CHEBI:39467 thiadiazole biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_39467 thiadiazole UBERON:0009663 telencephalic nucleus biolink:AnatomicalEntity mondo A nucleus of brain that is part of a telencephalon. http://purl.obolibrary.org/obo/UBERON_0009663 UBERON:0009664 gut mesentery biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009664 peritoneal cavity mesentary|peritoneal mesentary UBERON:0007005 cardiogenic splanchnic mesoderm biolink:AnatomicalEntity mondo The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. http://purl.obolibrary.org/obo/UBERON_0007005 cardiogenic mesoderm|cardiogenic splanchnopleure|heart primordia|cardiac mesoderm|cardiogenic region NCBITaxon:5721 Trichomonas organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5721 NCBITaxon:5722 Trichomonas vaginalis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5722 Tritrichomonas vaginalis CL:0000501 granulosa cell biolink:Cell mondo CALOHA:TS-0729|FMA:18718|BTO:0000542 A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors. http://purl.obolibrary.org/obo/CL_0000501 granulosa cell of ovary CL:0000502 type D enteroendocrine cell biolink:Cell mondo FMA:62935 A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin. http://purl.obolibrary.org/obo/CL_0000502 D cell GO:1904222 positive regulation of serine C-palmitoyltransferase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of serine C-palmitoyltransferase activity. http://purl.obolibrary.org/obo/GO_1904222 activation of serine C-palmitoyltransferase activity|up-regulation of serine C-palmitoyltransferase activity|upregulation of 3-oxosphinganine synthetase activity|upregulation of SPT|activation of SPT|up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of 3-oxosphinganine synthetase activity|upregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|upregulation of serine C-palmitoyltransferase activity|up regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up regulation of 3-oxosphinganine synthetase activity|up-regulation of SPT|positive regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|positive regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up-regulation of 3-oxosphinganine synthetase activity|activation of 3-oxosphinganine synthetase activity|up regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up regulation of SPT|up regulation of serine C-palmitoyltransferase activity|upregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|activation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of SPT|activation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity GO:1904221 negative regulation of serine C-palmitoyltransferase activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of serine C-palmitoyltransferase activity. http://purl.obolibrary.org/obo/GO_1904221 down regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|inhibition of 3-oxosphinganine synthetase activity|negative regulation of 3-oxosphinganine synthetase activity|down-regulation of 3-oxosphinganine synthetase activity|down-regulation of SPT|negative regulation of SPT|down regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down regulation of serine C-palmitoyltransferase activity|downregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|inhibition of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down regulation of SPT|inhibition of serine C-palmitoyltransferase activity|negative regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down-regulation of serine C-palmitoyltransferase activity|downregulation of SPT|inhibition of acyl-CoA:serine C-2 acyltransferase decarboxylating|downregulation of 3-oxosphinganine synthetase activity|down-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|negative regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|down regulation of 3-oxosphinganine synthetase activity|downregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|inhibition of SPT|downregulation of serine C-palmitoyltransferase activity UBERON:0009657 artery of lip biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009657 labial artery GO:1904220 regulation of serine C-palmitoyltransferase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of serine C-palmitoyltransferase activity. http://purl.obolibrary.org/obo/GO_1904220 regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|regulation of serine palmitoyltransferase|regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|regulation of SPT|regulation of 3-oxosphinganine synthetase activity UBERON:0009651 nephron tubule basement membrane biolink:AnatomicalEntity mondo A basement membrane that is part of a nephron tubule. http://purl.obolibrary.org/obo/UBERON_0009651 kidney tubule basement membrane|renal tubular basement membrane|renal tubule basement membrane UBERON:0009652 bronchus basement membrane biolink:AnatomicalEntity mondo A basement membrane that is part of a bronchus. http://purl.obolibrary.org/obo/UBERON_0009652 bronchial basement membrane UBERON:0009653 trachea basement membrane biolink:AnatomicalEntity mondo A basement membrane that is part of a trachea. http://purl.obolibrary.org/obo/UBERON_0009653 UBERON:0009655 auricular artery biolink:AnatomicalEntity mondo An artery that supplies oxygenated blood to the ear. http://purl.obolibrary.org/obo/UBERON_0009655 NCBITaxon:37020 Oryzomys palustris organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_37020 marsh rice rat CL:0000514 smooth muscle myoblast biolink:Cell mondo FMA:84798 A precursor cell destined to differentiate into smooth muscle myocytes. http://purl.obolibrary.org/obo/CL_0000514 myoblast, smooth muscle|satellite cell GO:1904228 positive regulation of glycogen synthase activity, transferring glucose-1-phosphate biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. http://purl.obolibrary.org/obo/GO_1904228 upregulation of glycogen synthase activity, transferring glucose-1-phosphate|up regulation of glycogen synthase activity, transferring glucose-1-phosphate|activation of glycogen synthase activity, transferring glucose-1-phosphate|up-regulation of glycogen synthase activity, transferring glucose-1-phosphate GO:1904227 negative regulation of glycogen synthase activity, transferring glucose-1-phosphate biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. http://purl.obolibrary.org/obo/GO_1904227 inhibition of glycogen synthase activity, transferring glucose-1-phosphate|down-regulation of glycogen synthase activity, transferring glucose-1-phosphate|downregulation of glycogen synthase activity, transferring glucose-1-phosphate|down regulation of glycogen synthase activity, transferring glucose-1-phosphate NCBITaxon:2501931 Orthocoronavirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2501931 NCBITaxon:40674 Mammalia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_40674 mammals|mammals GO:1904226 regulation of glycogen synthase activity, transferring glucose-1-phosphate biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. http://purl.obolibrary.org/obo/GO_1904226 NCBITaxon:5738 Diplomonadida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5738 diplomonads|diplomonads NCBITaxon:5739 Hexamitidae organism taxon mondo GC_ID:6 http://purl.obolibrary.org/obo/NCBITaxon_5739 UBERON:0009647 tympanic membrane epithelium biolink:AnatomicalEntity mondo One of the two epithelia which make up the tympanic membrane (along with the fibrous layer) http://purl.obolibrary.org/obo/UBERON_0009647 tympanic epithelium|tympanic membrane epithelial layer CHEBI:39447 pyrimidines biolink:ChemicalSubstance mondo Any compound having a pyrimidine as part of its structure. http://purl.obolibrary.org/obo/CHEBI_39447 UBERON:0009648 eyelid subcutaneous connective tissue biolink:AnatomicalEntity mondo A eyelid connective tissue that is part of a hypodermis. http://purl.obolibrary.org/obo/UBERON_0009648 superficial fascia of eyelid CL:0000511 androgen binding protein secreting cell biolink:Cell mondo A peptide hormone secreting cell that secretes androgen binding protein. http://purl.obolibrary.org/obo/CL_0000511 NCBITaxon:5740 Giardia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5740 UBERON:0009640 hypophyseal cartilage biolink:AnatomicalEntity mondo forms around the developing pituitary, and together with prechordal cartilages creates body of sphenoid bone http://purl.obolibrary.org/obo/UBERON_0009640 UBERON:0009644 trachea non-cartilage connective tissue biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009644 MONDO:0011405 poikiloderma with neutropenia biolink:Disease mondo GARD:0004085|DOID:0060551|ICD10:D82.8|OMIM:604173|Orphanet:221046 A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. http://identifiers.org/omim/604173|DOID:0060551|ORPHA:221046 http://purl.obolibrary.org/obo/MONDO_0011405 poikiloderma with neutropenia, Clericuzio-type|poikiloderma with neutropenia; PN|poikiloderma with neutropenia, Clericuzio type|Clericuzio type poikiloderma with neutropenia|PN|poikiloderma with neutropenia|poikiloderma with neutropenia Clericuzio type ordo_disease MONDO:0011404 Caronte biolink:Disease mondo OMIM:604172 http://identifiers.org/omim/604172 http://purl.obolibrary.org/obo/MONDO_0011404 Caronte|Car MONDO:0011407 facial paresis, hereditary congenital, 2 biolink:Disease mondo OMIM:604185|UMLS:C1858717 UMLS:C1858717|http://identifiers.org/omim/604185 http://purl.obolibrary.org/obo/MONDO_0011407 Mobius syndrome 3, formerly|Moebius syndrome 3, formerly|Mobius syndrome 3|Moebius syndrome 3|facial paresis, hereditary congenital, 2; HCFP2|facial paresis, hereditary congenital, 2|HCFP2 MONDO:0011406 cholesteatoma, congenital biolink:Disease mondo MESH:C562858|SCTID:232262007|OMIM:604183 SNOMEDCT:232262007|http://identifiers.org/omim/604183|MESH:C562858 http://purl.obolibrary.org/obo/MONDO_0011406 cholesteatoma, congenital MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection biolink:Disease mondo OMIM:604201 http://identifiers.org/omim/604201 http://purl.obolibrary.org/obo/MONDO_0011409 Sm2|hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection|hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection predisposition MONDO:0011408 hereditary spastic paraplegia 10 biolink:Disease mondo UMLS:C4518536|UMLS:C1858712|SCTID:732948003|GARD:0009590|OMIM:604187|DOID:0110763|MESH:C537482|Orphanet:100991|ICD10:G11.4 Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. ORPHA:100991|UMLS:C1858712|MESH:C537482|http://identifiers.org/omim/604187|DOID:0110763|SNOMEDCT:732948003|UMLS:C4518536 http://purl.obolibrary.org/obo/MONDO_0011408 spastic paraplegia 10, autosomal dominant; SPG10|hereditary spastic paraplegia type 10|spastic paraplegia 10|KIF5A hereditary spastic paraplegia|autosomal dominant spastic paraplegia 10|autosomal dominant spastic paraplegia|autosomal dominant spastic paraplegia type 10|SPG10|hereditary spastic paraplegia caused by mutation in KIF5A|spastic paraplegia 10 with or without peripheral neuropathy|spastic paraplegia 10, autosomal dominant ordo_disease UBERON:0010698 manual digit metacarpus pre-cartilage condensation biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010698 hand digit metacarpus pre-cartilage condensation|metacarpus pre-cartilage condensation|metacarpal bone pre-cartilage condensation|fore limb digit metacarpus pre-cartilage condensation|metacarpal pre-cartilage condensation MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly biolink:Disease mondo MESH:C565817|OMIM:604211|UMLS:C1858696 MESH:C565817|http://identifiers.org/omim/604211|UMLS:C1858696 http://purl.obolibrary.org/obo/MONDO_0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly UBERON:0010699 manual digit metacarpus cartilage element biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010699 finger metacarpus cartilage element|metacarpus cartilage element|metacarpal cartilage element|fore limb digit metacarpus cartilage element|hand digit metacarpus cartilage element|metacarpal cartilage condensation MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies biolink:Disease mondo SCTID:702421006|UMLS:C1858680|OMIM:604218|ICD10:G31.8|ICD9:348.39|Orphanet:85110|DOID:0050831|GARD:0010037|MESH:C536841 DOID:0050831|MESH:C536841|http://identifiers.org/omim/604218|UMLS:C1858680|SNOMEDCT:702421006|ORPHA:85110 http://purl.obolibrary.org/obo/MONDO_0011412 FENIB|encephalopathy, familial, with neuroserpin inclusion bodies; FENIB|encephalopathy, familial, with Collins bodies|encephalopathy, familial, with neuroserpin inclusion bodies gard_rare|ordo_disease MONDO:0011411 Chudley-McCullough syndrome biolink:Disease mondo OMIM:604213|GARD:0000086|UMLS:C1858695|Orphanet:314597|MESH:C535459 MESH:C535459|ORPHA:314597|http://identifiers.org/omim/604213|UMLS:C1858695 http://purl.obolibrary.org/obo/MONDO_0011411 CMCS|Chudley-McCullough syndrome|Chudley-McCullough syndrome; CMCS|deafness, autosomal recessive 82, formerly|deafness, autosomal recessive 82|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction gard_rare|ordo_malformation_syndrome MONDO:0011414 Peters anomaly (disease) biolink:Disease mondo MedDRA:10059202|MESH:C537884|DOID:0060673|ICD9:743.44|SCTID:204153003|ICD10:Q13.4|OMIM:604229|GARD:0007377|HP:0000659|Orphanet:708 Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane. MEDDRA:10059202|MESH:C537884|ORPHA:708|http://identifiers.org/omim/604229|DOID:0060673|SNOMEDCT:204153003 http://purl.obolibrary.org/obo/MONDO_0011414 Peters anomaly|anterior segment dysgenesis 5|anterior segment dysgenesis 5; ASGD5|Peters anomaly|Peters congenital glaucoma|ASGD5 ordo_morphological_anomaly MONDO:0011413 cataract 9 multiple types biolink:Disease mondo OMIM:604219|DOID:0110266|ICD10:Q12.0|UMLS:C1858679 Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene. DOID:0110266|http://identifiers.org/omim/604219|UMLS:C1858679 http://purl.obolibrary.org/obo/MONDO_0011413 cataract 9, multiple types|cataract 9, multiple types, with or without microcornea|CTRCT9|cataract, autosomal recessive congenital 1|CRYAA cataract (disease)|cataract, autosomal dominant|cataract 9 multiple types with or without microcornea|cataract 9, multiple types; CTRCT9|cataract (disease) caused by mutation in CRYAA|CATC1|autosomal recessive congenital cataract 1 NCBITaxon:5794 Apicomplexa organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5794 apicomplexans|apicomplexans NCBITaxon:52651 Chabertiidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_52651 NCBITaxon:5799 Eimeriidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5799 Eimeriids NCBITaxon:5796 Coccidia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5796 coccidians UBERON:0010693 pedal digit 1 epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a pedal digit 1. http://purl.obolibrary.org/obo/UBERON_0010693 pedal digit I epithelium|foot digit 1 epithelium|hind limb digit 1 epithelium UBERON:0010690 manual digit 1 epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a manual digit 1. http://purl.obolibrary.org/obo/UBERON_0010690 fore limb digit 1 epithelium|hand digit 1 epithelium|manual digit I epithelium UBERON:0010696 skeleton of pedal acropodium biolink:AnatomicalEntity mondo The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the pedal autopodium - i.e. the bones of the foot or their cartilaginous precursors[cjm]. http://purl.obolibrary.org/obo/UBERON_0010696 phalanges of foot|set of phalanges of pes|hind acropodium skeleton|posterior acropodium|set of pedal phalanges|foot digit skeleton|posterior acropodium skeleton|set of phalanges of foot|all phalanges in hindlimb autopod|phalanges of pes|pedal phalanges HP:0000606 Abnormality of the periorbital region biolink:PhenotypicFeature mondo UMLS:C4025837 An abnormality of the region situated around the orbit of the eye. http://purl.obolibrary.org/obo/HP_0000606 Anomaly of the periorbital region|Abnormality of the region around the eye socket|Malformation of the periorbital region|Deformity of the periorbital region|Abnormality of the region around the eye UBERON:0010697 pedal digit metatarsal cartilage element biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010697 hind limb digit metatarsal cartilage condensation|foot digit metatarsal cartilage condensation|metatarsal cartilage condensation HP:0000608 Macular degeneration biolink:PhenotypicFeature mondo UMLS:C0024437|SNOMEDCT_US:422338006 A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. http://purl.obolibrary.org/obo/HP_0000608 Pigmented macular degeneration UBERON:0010695 mesenchyme of tarsal region biolink:AnatomicalEntity mondo Mesenchyme of the carpal region that contributes to the tarsal skeleton. http://purl.obolibrary.org/obo/UBERON_0010695 GO:1904255 negative regulation of iron ion transmembrane transporter activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of an iron transmembrane transporter activity. http://purl.obolibrary.org/obo/GO_1904255 inhibition of iron cation channel activity|negative regulation of iron cation channel activity|down-regulation of iron cation channel activity|inhibition of iron channel activity|downregulation of iron channel activity|downregulation of iron-specific channel activity|downregulation of iron cation channel activity|down-regulation of iron channel activity|negative regulation of iron channel activity|down regulation of iron-specific channel activity|inhibition of iron-specific channel activity|negative regulation of iron-specific channel activity|down regulation of iron cation channel activity|down-regulation of iron-specific channel activity|down regulation of iron channel activity GO:1904254 regulation of iron ion transmembrane transporter activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of an iron transmembrane transporter activity. http://purl.obolibrary.org/obo/GO_1904254 regulation of iron channel activity|regulation of iron-specific channel activity|regulation of iron cation channel activity GO:1904253 positive regulation of bile acid metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of bile acid metabolic process. http://purl.obolibrary.org/obo/GO_1904253 upregulation of bile acid metabolic process|activation of bile acid metabolism|up-regulation of bile acid metabolism|up-regulation of bile acid metabolic process|upregulation of bile acid metabolism|up regulation of bile acid metabolic process|activation of bile acid metabolic process|positive regulation of bile acid metabolism|up regulation of bile acid metabolism UBERON:0010687 pedal digit metatarsal pre-cartilage condensation biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010687 foot digit metatarsal pre-cartilage condensation|metatarsus pre-cartilage condensation|metatarsal pre-cartilage condensation|metatarsal bone pre-cartilage condensation|hind limb digit metatarsal pre-cartilage condensation GO:1904252 negative regulation of bile acid metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of bile acid metabolic process. http://purl.obolibrary.org/obo/GO_1904252 downregulation of bile acid metabolism|down regulation of bile acid metabolic process|down regulation of bile acid metabolism|downregulation of bile acid metabolic process|inhibition of bile acid metabolism|inhibition of bile acid metabolic process|negative regulation of bile acid metabolism|down-regulation of bile acid metabolism|down-regulation of bile acid metabolic process UBERON:0010688 skeleton of manual acropodium biolink:AnatomicalEntity mondo The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the manual autopodium - i.e. the bones of the hands or their cartilaginous precursors[VSAO,modified]. http://purl.obolibrary.org/obo/UBERON_0010688 fore acropodium skeleton|anterior acropodium|phalanges of hand|manual phalanges|manual digit skeleton|anterior acropodium skeleton|phalanges of manus|set of manual phalanges|all phalanges in forelimb autopod|set of phalanges of manus|set of phalanges of hand|hand digit skeleton MONDO:0011401 Alzheimer disease without neurofibrillary tangles biolink:Disease mondo GARD:0007190|MESH:C536599|OMIM:604154|UMLS:C1858751 MESH:C536599|http://identifiers.org/omim/604154|UMLS:C1858751 http://purl.obolibrary.org/obo/MONDO_0011401 Alzheimer's disease without neurofibrillary tangles|Alzheimer disease without neurofibrillary tangles GO:1904251 regulation of bile acid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of bile acid metabolic process. http://purl.obolibrary.org/obo/GO_1904251 regulation of bile acid metabolism MONDO:0011400 dilated cardiomyopathy 1G biolink:Disease mondo DOID:0110430|UMLS:C1858763|OMIM:604145|MESH:C565824|ICD10:I42.0 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. MESH:C565824|DOID:0110430|http://identifiers.org/omim/604145|UMLS:C1858763 http://purl.obolibrary.org/obo/MONDO_0011400 cardiomyopathy, dilated, 1G; CMD1G|cardiomyopathy, dilated, 1G|CMD1G|familial isolated dilated cardiomyopathy caused by mutation in TTN|dilated cardiomyopathy type 1G|TTN familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1G MONDO:0011403 left ventricular noncompaction 1 biolink:Disease mondo OMIM:604169|UMLS:C1858725 Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene. http://identifiers.org/omim/604169|UMLS:C1858725 http://purl.obolibrary.org/obo/MONDO_0011403 DTNA left ventricular noncompaction|left ventricular noncompaction 1; LVNC1|left ventricular noncompaction 1 with or without congenital heart defects|left ventricular noncompaction type 1|LVNC1|left ventricular noncompaction 1|left ventricular noncompaction caused by mutation in DTNA MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome biolink:Disease mondo OMIM:604168|ICD9:759.89|UMLS:C1858726|ICD10:Q87.8|SCTID:702433001|MESH:C565822|Orphanet:48431 Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. SNOMEDCT:702433001|MESH:C565822|http://identifiers.org/omim/604168|ORPHA:48431|UMLS:C1858726 http://purl.obolibrary.org/obo/MONDO_0011402 congenital cataracts, facial dysmorphism, and neuropathy|congenital cataracts, facial dysmorphism, and neuropathy; CCFDN|CCFDN|cataract, congenital, with Facial Dysmorphism and neuropathy ordo_malformation_syndrome NCBITaxon:5765 Vahlkampfiidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5765 NCBITaxon:5763 Naegleria fowleri organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5763 brain-eating amoeba UBERON:0010680 pedal digit 1 phalanx cartilage element biolink:AnatomicalEntity mondo A cartilage element that is part of a pedal digit 1 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010680 foot digit 1 phalanx cartilage element|pedal digit I phalanx cartilage element|hind limb digit 1 phalanx cartilage condensation UBERON:0010685 pedal digit phalanx cartilage element biolink:AnatomicalEntity mondo A cartilage element that is part of a pedal digit mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010685 hind limb digit phalanx cartilage condensation|foot digit phalanx cartilage element UBERON:0010686 manual digit phalanx cartilage element biolink:AnatomicalEntity mondo A cartilage element that is part of a manual digit mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010686 fore limb digit phalanx cartilage condensation|hand digit phalanx cartilage condensation UBERON:0010684 pedal digit 5 phalanx cartilage element biolink:AnatomicalEntity mondo A cartilage element that is part of a pedal digit 5 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010684 pedal digit V phalanx cartilage element|hind limb digit 5 phalanx cartilage condensation|foot digit 5 phalanx cartilage element GO:1904256 positive regulation of iron ion transmembrane transporter activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of an iron transmembrane transporter activity. http://purl.obolibrary.org/obo/GO_1904256 upregulation of iron-specific channel activity|upregulation of iron cation channel activity|positive regulation of iron-specific channel activity|up-regulation of iron channel activity|up regulation of iron-specific channel activity|up regulation of iron channel activity|positive regulation of iron cation channel activity|positive regulation of iron transmembrane transporter activity|activation of iron channel activity|up regulation of iron cation channel activity|up-regulation of iron-specific channel activity|positive regulation of iron channel activity|activation of iron-specific channel activity|up-regulation of iron cation channel activity|activation of iron cation channel activity|upregulation of iron channel activity UBERON:0007037 mechanosensory system biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0007037 UBERON:0010679 manual digit 5 phalanx cartilage element biolink:AnatomicalEntity mondo A cartilage element that is part of a manual digit 5 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010679 fore limb digit 5 phalanx cartilage condensation|manual digit V phalanx cartilage element|hand digit 5 phalanx cartilage element UBERON:0009692 lumen of pharyngotympanic tube biolink:AnatomicalEntity mondo A organ cavity that is part of a pharyngotympanic tube. http://purl.obolibrary.org/obo/UBERON_0009692 lumen of eustachian tube|pharyngotympanic tube lumen|auditory tube lumen|lumen of auditory tube UBERON:0009695 epithelium of laryngopharynx biolink:AnatomicalEntity mondo A epithelium that is part of a hypopharynx. http://purl.obolibrary.org/obo/UBERON_0009695 laryngopharynx epithelium|epithelium of laryngeal pharynx UBERON:0009697 epithelium of appendix biolink:AnatomicalEntity mondo A epithelium that is part of a vermiform appendix. http://purl.obolibrary.org/obo/UBERON_0009697 appendix epithelium|epithelium of vermiform appendix UBERON:0009680 set of upper jaw teeth biolink:AnatomicalEntity mondo A tooth row that is part of a skeleton of upper jaw. http://purl.obolibrary.org/obo/UBERON_0009680 set of all upper teeth|upper dental arcade|maxillary dental arcade|upper jaw teeth|arcus dentalis superior UBERON:0010675 manual digit 1 phalanx cartilage element biolink:AnatomicalEntity mondo A cartilage element that is part of a manual digit 1 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010675 manual digit I phalanx cartilage element|fore limb digit 1 phalanx cartilage condensation|hand digit 1 phalanx cartilage element UBERON:0007026 presumptive gut biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0007026 primordial digestive tube|embryonic digestive tube|future digestive tube|primitive gut|future digestive tract|primordial gut|future gut UBERON:0007023 adult organism biolink:AnatomicalEntity mondo A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. http://purl.obolibrary.org/obo/UBERON_0007023 adult|adults UBERON:0007021 sexually immature organism biolink:AnatomicalEntity mondo A multicellular organism that is at the juvenile stage. http://purl.obolibrary.org/obo/UBERON_0007021 juveniles|juvenile organism|juvenile UBERON:0009708 dorsal pancreas biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009708 pancreatis dorsalis UBERON:0009709 ventral pancreas biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009709 pancreatis ventralis NCBITaxon:573 Klebsiella pneumoniae organism taxon mondo PMID:1581186|GC_ID:11|PMID:11411715 http://purl.obolibrary.org/obo/NCBITaxon_573 Bacterium pneumoniae crouposae|Klebsiella pneumoniae aerogenes|Bacillus pneumoniae|'Klebsiella aerogenes' (Kruse) Taylor et al. 1956|Hyalococcus pneumoniae UBERON:0009712 endocardium of right ventricle biolink:AnatomicalEntity mondo Any endocardium that is part of the right ventricle of the heart. http://purl.obolibrary.org/obo/UBERON_0009712 right ventricle endocardial tissue|endocardial lining of right ventricle|right ventricle endocardium|right ventricular endocardium UBERON:0009713 endocardium of left ventricle biolink:AnatomicalEntity mondo Any endocardium that is part of the left ventricle of the heart. http://purl.obolibrary.org/obo/UBERON_0009713 left ventricle endocardium|left ventricular endocardium|endocardial lining of left ventricle|left ventricle endocardial tissue UBERON:0009715 stomodeal lumen biolink:AnatomicalEntity mondo An anatomical cavity that surrounded_by a stomodeum. http://purl.obolibrary.org/obo/UBERON_0009715 lumen of stomodeum|stomatodeal cavity|lumen of stomatodaeum NCBITaxon:1963758 Myomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1963758 Sciurognathi|mice and others NCBITaxon:570 Klebsiella organism taxon mondo GC_ID:11|PMID:10555350|PMID:11411716|PMID:12635932 http://purl.obolibrary.org/obo/NCBITaxon_570 Hyalococcus|Calymmatobacterium|Donovania CHEBI:52395 oxyketone biolink:ChemicalSubstance mondo A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. http://purl.obolibrary.org/obo/CHEBI_52395 oxyketones CHEBI:52396 alpha-oxyketone biolink:ChemicalSubstance mondo An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom. http://purl.obolibrary.org/obo/CHEBI_52396 alpha-oxyketones NCBITaxon:86056 Rhinocladiella mackenziei organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_86056 Ramichloridium mackenziei NCBITaxon:229219 Blastomyces organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_229219 NCBITaxon:583 Proteus organism taxon mondo GC_ID:11|PMID:26944634 http://purl.obolibrary.org/obo/NCBITaxon_583 Liquidobacterium|Proteus ENVO:00002186 contaminated water biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_00002186 polluted water GO:0003411 cell motility involved in camera-type eye morphogenesis biolink:OntologyClass mondo Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye. http://purl.obolibrary.org/obo/GO_0003411 NCBITaxon:590 Salmonella organism taxon mondo GC_ID:11|PMID:3231714|PMID:10939679|PMID:9731304|PMID:15653930|PMID:10319519|PMID:15653929|PMID:12072558 http://purl.obolibrary.org/obo/NCBITaxon_590 CL:0000586 germ cell biolink:Cell mondo BTO:0000535|VHOG:0001534|WBbt:0006796 The reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/CL_0000586 CL:0000595 enucleate erythrocyte biolink:Cell mondo An erythrocyte lacking a nucleus. http://purl.obolibrary.org/obo/CL_0000595 red blood cell|RBC CL:0000568 amine precursor uptake and decarboxylation cell biolink:Cell mondo FMA:83114|BTO:0003866 A cell that originates in the neural crest, that has certain cytochemical and ultrastructural characteristics and is found scattered throughout the body; types include melanocytes, the cells of the chromaffin system, and cells in the hypothalamus, hypophysis, thyroid, parathyroids, lungs, gastrointestinal tract, and pancreas. This cell type concentrates the amino acid precursors of certain amines and decarboxylate them, forming amines that function as regulators and neurotransmitters. This cell type produces substances such as epinephrine, norepinephrine, dopamine, serotonin, enkephalin, somatostatin, neurotensin, and substance P, the actions of which may affect contiguous cells, nearby groups of cells, or distant cells, thus functioning as local or systemic hormones. The name is an acronym for amine precursor uptake and decarboxylation cell. http://purl.obolibrary.org/obo/CL_0000568 APUD cell CL:0000569 cardiac mesenchymal cell biolink:Cell mondo A mesenchymal cell found in the developing heart and that develops into some part of the heart. These cells derive from intra- and extra-cardiac sources, including the endocardium, epicardium, neural crest, and second heart field. http://purl.obolibrary.org/obo/CL_0000569 UBERON:0010740 bone of appendage girdle complex biolink:AnatomicalEntity mondo A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). http://purl.obolibrary.org/obo/UBERON_0010740 bone of extended limb/fin region|limb bone UBERON:0010741 bone of pectoral complex biolink:AnatomicalEntity mondo A bone that is part of a pectoral complex. Examples: scapula, manus phalanx, any carpal bone, any bone of the pectoral fin. http://purl.obolibrary.org/obo/UBERON_0010741 forelimb bone|bone of forelimb or pectoral fin or pectoral girdle|wing bone CL:0000562 nucleate erythrocyte biolink:Cell mondo An erythrocyte having a nucleus. http://purl.obolibrary.org/obo/CL_0000562 red blood cell|RBC UBERON:0009758 abdominal ganglion biolink:AnatomicalEntity mondo A ganglion that is part of a abdominal segment of trunk. http://purl.obolibrary.org/obo/UBERON_0009758 CL:0000566 angioblastic mesenchymal cell biolink:Cell mondo A mesenchymal stem cell capable of developing into blood vessel endothelium. http://purl.obolibrary.org/obo/CL_0000566 chondroplast|angioblast UBERON:0009751 cardiac mesenchyme biolink:AnatomicalEntity mondo The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures http://purl.obolibrary.org/obo/UBERON_0009751 heart mesenchyme UBERON:0009752 pancreas mesenchyme biolink:AnatomicalEntity mondo The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas http://purl.obolibrary.org/obo/UBERON_0009752 MONDO:0060489 46,XX sex reversal 4 biolink:Disease mondo OMIM:617480 http://identifiers.org/omim/617480 http://purl.obolibrary.org/obo/MONDO_0060489 46,XX SEX reversal 4; SRXX4|SRXX4|46,XX Sex reversal, Sry-Negative MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect biolink:Disease mondo OMIM:617468 http://identifiers.org/omim/617468 http://purl.obolibrary.org/obo/MONDO_0060486 AMCNMY|arthrogryposis multiplex congenita, neurogenic, with myelin defect MONDO:0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness biolink:Disease mondo UMLS:C4479603|OMIM:617519 UMLS:C4479603|http://identifiers.org/omim/617519 http://purl.obolibrary.org/obo/MONDO_0060496 NEDHND|neurodevelopmental disorder with hypotonia, neuropathy, and deafness; NEDHND|myopathy, Congenital, with neuropathy and Deafness CL:0000570 parafollicular cell biolink:Cell mondo SCTID:176770005|FMA:68653 A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine. http://purl.obolibrary.org/obo/CL_0000570 C cell|parafollicular cell of thyroid gland|C cell of thyroid gland|thyroid parafollicular cell|clear cell of thyroid gland UBERON:0009744 lymph node medullary sinus biolink:AnatomicalEntity mondo The channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels http://purl.obolibrary.org/obo/UBERON_0009744 medullary sinus|lymph node medullary sinusoid UBERON:0009745 lymph node medullary cord biolink:AnatomicalEntity mondo The dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node http://purl.obolibrary.org/obo/UBERON_0009745 medullary cord UBERON:0010720 hindlimb zeugopod skeleton biolink:AnatomicalEntity mondo Subdivision of skeleton consisting of all skeletal elements in an hindlimb zeugopod region. Typically consists of the tibia and the fibula. http://purl.obolibrary.org/obo/UBERON_0010720 hind epipodium|skeleton cruris|posterior zeugopodium|hindlimb zygopod skeleton|crural skeleton|mesomere 2 of pelvic appendage|posterior zeugopodium skeleton|crus skeleton|hindlimb epipodium CL:0000573 retinal cone cell biolink:Cell mondo FMA:67748|CALOHA:TS-0866|BTO:0001036 One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision. http://purl.obolibrary.org/obo/CL_0000573 MONDO:0060491 neurodevelopmental disorder with involuntary movements biolink:Disease mondo OMIM:617493 http://identifiers.org/omim/617493 http://purl.obolibrary.org/obo/MONDO_0060491 NEDIM|neurodevelopmental disorder with involuntary movements; NEDIM UBERON:0009749 limb mesenchyme biolink:AnatomicalEntity mondo The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. http://purl.obolibrary.org/obo/UBERON_0009749 limb mesoderm MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies biolink:Disease mondo UMLS:C4479566|OMIM:617481 http://identifiers.org/omim/617481|UMLS:C4479566 http://purl.obolibrary.org/obo/MONDO_0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies; NMIHBA|NMIHBA CL:0000576 monocyte biolink:Cell mondo BTO:0000876|FMA:62864|CALOHA:TS-0638 Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. http://purl.obolibrary.org/obo/CL_0000576 UBERON:0010728 sphenoid lesser wing pre-cartilage condensation biolink:AnatomicalEntity mondo A orbitosphenoid endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0010728 UBERON:0009742 proamniotic cavity biolink:AnatomicalEntity mondo The cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds http://purl.obolibrary.org/obo/UBERON_0009742 CL:0000547 proerythroblast biolink:Cell mondo FMA:83518 An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/CL_0000547 rubriblast|pronormoblast CL:0000548 animal cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000548 _upper_level CL:0000549 basophilic erythroblast biolink:Cell mondo FMA:83505 A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/CL_0000549 early erythroblast|basophilic normoblast|early normoblast|prorubricyte UBERON:0010712 limb skeleton subdivision biolink:AnatomicalEntity mondo Skeletal subdivision that is a segment of the limb skeleton. http://purl.obolibrary.org/obo/UBERON_0010712 CL:0000540 neuron biolink:Cell mondo BTO:0000938|CALOHA:TS-0683|FBbt:00005106|VHOG:0001483|FMA:54527|WBbt:0003679 The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. http://purl.obolibrary.org/obo/CL_0000540 nerve cell CL:0000541 melanoblast biolink:Cell mondo BTO:0003217|FMA:83377 A cell that originates from the neural crest and differentiates into a pigment cell. http://purl.obolibrary.org/obo/CL_0000541 CL:0000542 lymphocyte biolink:Cell mondo CALOHA:TS-0583|FMA:62863|BTO:0000775|VHOG:0001535 A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/CL_0000542 UBERON:0010714 iliac cartilage element biolink:AnatomicalEntity mondo A iliac endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010714 iliac cartilage condensation UBERON:0010719 girdle skeleton biolink:AnatomicalEntity mondo The subdivision of the skeleton of either the pectoral or pelvic girdle. http://purl.obolibrary.org/obo/UBERON_0010719 skeleton of girdle UBERON:0010718 pubic cartilage element biolink:AnatomicalEntity mondo A pubic endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010718 pubic cartilage condensation NCBITaxon:3193 Embryophyta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_3193 land plants|land plants|higher plants|plants ENVO:00002149 sea water biolink:OntologyClass mondo Water which has physicochemical properties that have been determined by the processes occuring in a sea or ocean. http://purl.obolibrary.org/obo/ENVO_00002149 ocean water|seawater CL:0000556 megakaryocyte biolink:Cell mondo CALOHA:TS-0611|FMA:83555|BTO:0000843 A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm. http://purl.obolibrary.org/obo/CL_0000556 megalokaryocyte|megacaryocyte|megalocaryocyte CL:0000557 granulocyte monocyte progenitor cell biolink:Cell mondo A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/CL_0000557 CFU-GM|granulocyte-macrophage progenitor|granulocyte/monocyte progenitor|GMP|granulocyte/monocyte precursor|colony forming unit granulocyte macrophage|CFU-C , Colony forming unit in culture CL:0000558 reticulocyte biolink:Cell mondo CALOHA:TS-0864|BTO:0001173 An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. http://purl.obolibrary.org/obo/CL_0000558 CL:0000559 promonocyte biolink:Cell mondo FMA:83551|BTO:0004657 A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. http://purl.obolibrary.org/obo/CL_0000559 UBERON:0009722 entire pharyngeal arch endoderm biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009722 pharyngeal arch endoderm UBERON:0010700 phalanx pre-cartilage condensation biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010700 UBERON:0010701 phalanx cartilage element biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010701 phalanx cartilage condensation CL:0000550 polychromatophilic erythroblast biolink:Cell mondo FMA:83506 A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/CL_0000550 polychromatophilic normoblast|intermediate erythroblast|polychromatic erythroblast|rubricyte|intermediate normoblast|polychromatic normoblast CL:0000552 orthochromatic erythroblast biolink:Cell mondo FMA:84646 The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. http://purl.obolibrary.org/obo/CL_0000552 eosinophilic erythroblast|orthochromatic normoblast|acidophilic erythroblast|late erythoblast|pyknotic eto enrythroblast CL:0000553 megakaryocyte progenitor cell biolink:Cell mondo CALOHA:TS-0610|BTO:0001164|FMA:84235 The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). http://purl.obolibrary.org/obo/CL_0000553 promegakaryocyte|CFU-Meg|megakaryocytic progenitor cell|colony-forming unit-megakaryocyte|MkP|megacaryocyte progenitor cell|megacaryoblast|promegacaryocyte|Meg-CFC|megakaryoblast UBERON:0010702 digit mesenchyme biolink:AnatomicalEntity mondo Mesenchyme of the digit region. http://purl.obolibrary.org/obo/UBERON_0010702 digital ray UBERON:0010703 forelimb zeugopod skeleton biolink:AnatomicalEntity mondo The collection of all skeletal elements in an forelimb zeugopod region. http://purl.obolibrary.org/obo/UBERON_0010703 anterior zeugopodium|fore epipodium|antebrachial skeleton|forelimb epipodium skeleton|mesomere 2 of pectoral appendage|forearm skeleton|radius and ulna|wing zeugopod skeleton|skeleton of forearm|anterior zeugopodium skeleton|fore epipodium skeleton|antebrachium skeleton|forelimb epipodium UBERON:0010708 pectoral complex biolink:AnatomicalEntity mondo Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. http://purl.obolibrary.org/obo/UBERON_0010708 pectoral appendage/girdle complex|pectoral girdle plus anterior limb or fin|pectoral girdle plus pectoral limb or fin|upper limb and pectoral girdle|upper limb|upper limb and shoulder UBERON:0010709 pelvic complex biolink:AnatomicalEntity mondo Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. http://purl.obolibrary.org/obo/UBERON_0010709 pelvic girdle plus posterior limb or fin|pelvic girdle plus pelvic limb or fin|pelvic appendage/girdle complex|lower limb|lower limb and pelvis|lower limb and pelvic girdle UBERON:0010707 appendage girdle complex biolink:AnatomicalEntity mondo An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/UBERON_0010707 limb|girdle plus limb or fin|appendage/girdle complex|appendage-girdle complex|appendage complex MONDO:0060457 autoinflammation with arthritis and dyskeratosis biolink:Disease mondo OMIM:617388 http://identifiers.org/omim/617388 http://purl.obolibrary.org/obo/MONDO_0060457 AIADK|AUTOINFLAMMATION with arthritis and dyskeratosis; AIADK MONDO:0060456 cerebral sclerosis, diffuse, scholz type biolink:Disease mondo MESH:C564449|OMIM:302700 http://identifiers.org/omim/302700|MESH:C564449 http://purl.obolibrary.org/obo/MONDO_0060456 cerebral sclerosis, diffuse, scholz type MONDO:0060455 X-linked congenital hemolytic anemia biolink:Disease mondo OMIM:301015 http://identifiers.org/omim/301015 http://purl.obolibrary.org/obo/MONDO_0060455 hemolytic anemia, congenital, X-linked HP:0000593 Abnormal anterior chamber morphology biolink:PhenotypicFeature mondo SNOMEDCT_US:204142009|UMLS:C3152182 Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. http://purl.obolibrary.org/obo/HP_0000593 Ocular anterior chamber abnormality|Anterior chamber anomalies|Abnormality of the anterior chamber hposlim_core HP:0000598 Abnormality of the ear biolink:PhenotypicFeature mondo UMLS:C0266589|SNOMEDCT_US:275259005 An abnormality of the ear. http://purl.obolibrary.org/obo/HP_0000598 Abnormality of the ear|Ear anomaly hposlim_core ENVO:01000155 organic material biolink:OntologyClass mondo Environmental material derived from living organisms and composed primarily of one or more biomacromolecules. http://purl.obolibrary.org/obo/ENVO_01000155 biomass NCBITaxon:506 Alcaligenaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_506 HP:0012575 Abnormal nephron morphology biolink:PhenotypicFeature mondo UMLS:C4022838 A structural anomaly of the nephron. http://purl.obolibrary.org/obo/HP_0012575 Abnormality of the nephron NCBITaxon:517 Bordetella organism taxon mondo GC_ID:11|PMID:11491321 http://purl.obolibrary.org/obo/NCBITaxon_517 ENVO:01000179 desert biome biolink:OntologyClass mondo A desert biome is a terrestrial biome which loses more liquid water by evapotranspiration than is supplied by precipitation and includes communities adapted to these conditions. http://purl.obolibrary.org/obo/ENVO_01000179 NCBITaxon:519 Bordetella parapertussis organism taxon mondo GC_ID:11|PMID:8240949|PMID:8782670 http://purl.obolibrary.org/obo/NCBITaxon_519 Bacillus parapertussis|Haemophilus parapertussis|Acinetobacter parapertussis HP:0000572 Visual loss biolink:PhenotypicFeature mondo SNOMEDCT_US:7973008|UMLS:C3665386 Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). http://purl.obolibrary.org/obo/HP_0000572 Vision loss|Loss of vision|Visual loss ENVO:01000176 shrubland biome biolink:OntologyClass mondo A shrubland biome is a terrestrial biome which includes, across its entire spatial extent, dense groups of shrubs. http://purl.obolibrary.org/obo/ENVO_01000176 ENVO:00002114 chemically enriched sediment biolink:OntologyClass mondo Sediment which has increased levels of one or more chemical compounds. http://purl.obolibrary.org/obo/ENVO_00002114 NCBITaxon:520 Bordetella pertussis organism taxon mondo PMID:8240949|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_520 Microbe de la coqueluche|Bacterium tussis-convulsivae|Hemophilus pertussis|Haemophilus pertussis MONDO:0023483 infectious myositis biolink:Disease mondo SCTID:29689003|ICD9:728.0|GARD:0009131|NCIT:C26984 An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain. NCIT:C26984|SNOMEDCT:29689003 http://purl.obolibrary.org/obo/MONDO_0023483 infective myositis|infectious myositis gard_rare HP:0000587 Abnormality of the optic nerve biolink:PhenotypicFeature mondo UMLS:C0029131 Abnormality of the optic nerve. http://purl.obolibrary.org/obo/HP_0000587 optic nerve abnormalities|Optic nerve issue hposlim_core NCBITaxon:39700 Trypanozoon organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39700 NCBITaxon:543 Enterobacteriaceae organism taxon mondo PMID:16166704|PMID:10555334|PMID:10555323|PMID:27620848|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteraceae|gamma-3 proteobacteria NCBITaxon:562 Escherichia coli organism taxon mondo GC_ID:11|PMID:10319482 http://purl.obolibrary.org/obo/NCBITaxon_562 E. coli|Enterococcus coli|Escherichia/Shigella coli|Bacillus coli|Bacterium coli|Bacterium coli commune HP:0012591 Abnormal urinary electrolyte concentration biolink:PhenotypicFeature mondo UMLS:C4022833 An abnormality in the concentration of electrolytes in the urine. http://purl.obolibrary.org/obo/HP_0012591 Urinary electrolyte imbalance NCBITaxon:561 Escherichia organism taxon mondo GC_ID:11|PMID:19700542 http://purl.obolibrary.org/obo/NCBITaxon_561 MONDO:0023310 obsolete hemiplegic migraine biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023310 UBERON:0019198 dorsal nerve of clitoris biolink:AnatomicalEntity mondo The deep terminal division of the pudendal nerve that runs along the dorsum of the clitoral shaft and innervates the the glans clitoris. http://purl.obolibrary.org/obo/UBERON_0019198 dorsal nerve of the clitoris|nervus dorsalis clitoridis UBERON:0019196 iliac artery endothelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019196 MONDO:0011328 obsolete autosomal dominant limb-girdle muscular dystrophy type 1E biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011328 MONDO:0011327 neuronal intranuclear inclusion disease biolink:Disease mondo MESH:C537395|ICD10:G31.0|NCIT:C122655|SCTID:715437003|Orphanet:2289|OMIM:603472|GARD:0003971|UMLS:C1863843 Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. http://identifiers.org/omim/603472|ORPHA:2289|UMLS:C1863843|NCIT:C122655|MESH:C537395|SNOMEDCT:715437003 http://purl.obolibrary.org/obo/MONDO_0011327 neuronal intranuclear inclusion disease|Niid|neuronal intranuclear hyaline inclusion disease ordo_disease|gard_rare MONDO:0013989 developmental and epileptic encephalopathy, 14 biolink:Disease mondo OMIM:614959|UMLS:C3554195 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene. http://identifiers.org/omim/614959|UMLS:C3554195 http://purl.obolibrary.org/obo/MONDO_0013989 early infantile epileptic encephalopathy caused by mutation in KCNT1|KCNT1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 14; EIEE14|epileptic encephalopathy, early infantile, 14|EIEE14|epileptic encephalopathy, early infantile, type 14|DEE14 MONDO:0011329 cerebral palsy, spastic quadriplegic, 1 biolink:Disease mondo OMIM:603513|GARD:0010447|UMLS:C2751938|MESH:C567853 Any spastic quadriplegia in which the cause of the disease is a mutation in the GAD1 gene. UMLS:C2751938|http://identifiers.org/omim/603513|MESH:C567853 http://purl.obolibrary.org/obo/MONDO_0011329 cerebral palsy, spastic quadriplegic, type 1|spastic quadriplegia caused by mutation in GAD1|GAD1 spastic quadriplegia|cerebral palsy spastic quadriplegic|cerebral palsy, spastic quadriplegic, 1|cerebral palsy, spastic quadriplegic, 1; CPSQ1|spastic quadriplegia cerebral palsy|CPSQ1|spastic quadriplegic cerebral palsy|spastic tetraplegia cerebral palsy gard_rare HP:0000759 Abnormal peripheral nervous system morphology biolink:PhenotypicFeature mondo SNOMEDCT_US:42658009|MSH:D010523|UMLS:C0031117|UMLS:C4025831|SNOMEDCT_US:302226006 A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). http://purl.obolibrary.org/obo/HP_0000759 Abnormal peripheral nervous system structure|Peripheral nervous system disease MONDO:0011331 congenital chylothorax biolink:Disease mondo DOID:0060646|ICD10:I89.8|GARD:0010156|ICD9:511.89|UMLS:C0340014|SCTID:233646003|OMIM:603523|Orphanet:264688|MESH:C535461 Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations. SNOMEDCT:233646003|MESH:C535461|UMLS:C0340014|DOID:0060646|ORPHA:264688|http://identifiers.org/omim/603523 http://purl.obolibrary.org/obo/MONDO_0011331 chylothorax, congenital|hydrothorax, congenital gard_rare|ordo_disease MONDO:0013994 Joubert syndrome 20 biolink:Disease mondo OMIM:614970|UMLS:C3554235|DOID:0110989 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://identifiers.org/omim/614970|UMLS:C3554235|DOID:0110989 http://purl.obolibrary.org/obo/MONDO_0013994 Joubert syndrome caused by mutation in TMEM231|Joubert syndrome 20|Joubert syndrome type 20|JBTS20|TMEM231 Joubert syndrome|Joubert syndrome 20; JBTS20 GO:1904167 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_1904167 HGNC:10597 SCN9A biolink:OntologyClass mondo http://identifiers.org/hgnc/10597 MONDO:0013995 cholestasis, intrahepatic, of pregnancy 3 biolink:Disease mondo DOID:0070229|EFO:0009150|OMIM:614972|UMLS:C3554241 http://identifiers.org/omim/614972|UMLS:C3554241|DOID:0070229 http://purl.obolibrary.org/obo/MONDO_0013995 ICP3|cholestasis, intrahepatic, of pregnancy type 3|cholestasis, intrahepatic, of pregnancy 3; ICP3|cholestasis, intrahepatic, of pregnancy 3 MONDO:0011330 spinocerebellar ataxia type 10 biolink:Disease mondo ICD10:G11.2|Orphanet:98761|MESH:C566874|DOID:0050960|SCTID:715754007|GARD:0010474|UMLS:C4275023|OMIM:603516|UMLS:C1963674 Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. ORPHA:98761|MESH:C566874|UMLS:C1963674|SNOMEDCT:715754007|DOID:0050960|http://identifiers.org/omim/603516|UMLS:C4275023 http://purl.obolibrary.org/obo/MONDO_0011330 SCA10|spinocerebellar ataxia 10|spinocerebellar ataxia type 10|spinocerebellar ataxia 10; SCA10 ordo_disease BSPO:0015014 immediately_superficial_to biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BSPO_0015014 HP:0000750 Delayed speech and language development biolink:PhenotypicFeature mondo UMLS:C0233715|UMLS:C0454644|UMLS:C0241210|UMLS:C0023012|SNOMEDCT_US:29164008|SNOMEDCT_US:229721007|SNOMEDCT_US:62415009|SNOMEDCT_US:162294008|MSH:D007805 A degree of language development that is significantly below the norm for a child of a specified age. http://purl.obolibrary.org/obo/HP_0000750 Delayed speech and language development|Delayed speech|Delayed speech development|Language delay|Language delayed|Speech and language difficulties|Impaired speech and language development|Speech delay|Poor speech acquisition|Speech difficulties|Poor speech development|Speech and language delay|Delayed language development|Late-onset speech development|Poor language development|Impaired speech development|Deficiency of speech development|Delayed speech acquisition|Language development deficit MONDO:0013992 obesity due to leptin receptor gene deficiency biolink:Disease mondo OMIM:614963|Orphanet:179494|UMLS:C3554225|ICD10:E66.8 http://identifiers.org/omim/614963|UMLS:C3554225|ORPHA:179494 http://purl.obolibrary.org/obo/MONDO_0013992 obesity, morbid, nonsyndromic 2|leptin receptor deficiency ordo_disease MONDO:0011333 light fixation seizure syndrome biolink:Disease mondo UMLS:C1863767|MESH:C566367|OMIM:603530 UMLS:C1863767|MESH:C566367|http://identifiers.org/omim/603530 http://purl.obolibrary.org/obo/MONDO_0011333 Lfss|light fixation seizure syndrome|M syndrome MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin biolink:Disease mondo OMIM:603529|UMLS:C3807235 UMLS:C3807235|http://identifiers.org/omim/603529 http://purl.obolibrary.org/obo/MONDO_0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin MONDO:0013993 pontocerebellar hypoplasia type 7 biolink:Disease mondo ICD10:Q04.3|Orphanet:284339|DOID:0060276|SCTID:718605009|OMIM:614969|UMLS:C3554226 Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. http://identifiers.org/omim/614969|ORPHA:284339|UMLS:C3554226|DOID:0060276|SNOMEDCT:718605009 http://purl.obolibrary.org/obo/MONDO_0013993 pontocerebellar hypoplasia, type 7|PCH7|pontocerebellar hypoplasia, type 7; PCH7|pontocerebellar hypoplasia-46,XY disorder of sex development syndrome|TOE1 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1 ordo_malformation_syndrome HGNC:10596 SCN8A biolink:OntologyClass mondo http://identifiers.org/hgnc/10596 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations biolink:Disease mondo UMLS:C1863732|SCTID:766820007|Orphanet:93360|OMIM:603546|ICD10:Q77.7|MESH:C535784|GARD:0009866|NCIT:C125419 A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity. SNOMEDCT:766820007|http://identifiers.org/omim/603546|ORPHA:93360|UMLS:C1863732|MESH:C535784|NCIT:C125419 http://purl.obolibrary.org/obo/MONDO_0011335 spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with Joint laxity, Hall type|spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type|spondyloepimetaphyseal dysplasia with Joint laxity, type 2|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple dislocations Hall type|spondyloepimetaphyseal dysplasia with joint laxity type 2|SEMDJL2|spondyloepimetaphyseal dysplasia with JOINT laxity type 2|SEMD-MD|spondyloepimetaphyseal dysplasia with JOINT laxity type 2; SEMDJL2|spondyloepimetaphyseal dysplasia with joint laxicity, Hall type|spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type|spondyloepimetaphyseal dysplasia with JOINT laxity, type 2; SEMDJL2 gard_rare|ordo_disease MONDO:0013998 Carpenter syndrome 2 biolink:Disease mondo OMIM:614976|UMLS:C3554247 Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene. http://identifiers.org/omim/614976|UMLS:C3554247 http://purl.obolibrary.org/obo/MONDO_0013998 CRPT2|Carpenter syndrome type 2|MEGF8 Carpenter syndrome|Carpenter syndrome caused by mutation in MEGF8|Carpenter syndrome 2|CARPENTER syndrome 2; CRPT2 HP:0000752 Hyperactivity biolink:PhenotypicFeature mondo UMLS:C0424295|SNOMEDCT_US:44548000|MSH:D006948 Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. http://purl.obolibrary.org/obo/HP_0000752 Hyperactive behavior|More active than typical MONDO:0011334 limb-mammary syndrome biolink:Disease mondo GARD:0010051|SCTID:721972001|OMIM:603543|Orphanet:69085|MESH:C535903 Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias. UMLS:C1863753|SNOMEDCT:721972001|ORPHA:69085|MESH:C535903|http://identifiers.org/omim/603543 http://purl.obolibrary.org/obo/MONDO_0011334 LMS|mammary hypoplasia, ectrodactyly, and other hand/foot anomalies|LMS|limb-mammary syndrome|limb-mammary syndrome; LMS ordo_malformation_syndrome MONDO:0013999 optic nerve edema-splenomegaly syndrome biolink:Disease mondo Orphanet:313800|UMLS:C3554278|OMIM:614979 Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. http://identifiers.org/omim/614979|UMLS:C3554278|ORPHA:313800 http://purl.obolibrary.org/obo/MONDO_0013999 splenomegaly, cytopenia, and vision loss ordo_disease MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 biolink:Disease mondo MESH:C537250|OMIM:603553|DOID:0110922|GARD:0009922 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene. http://identifiers.org/omim/603553|MESH:C537250|DOID:0110922 http://purl.obolibrary.org/obo/MONDO_0011337 hemophagocytic lymphohistiocytosis, familial, type 2|PRF1 genetic hemophagocytic lymphohistiocytosis|Hplh2|Hlh2|hemophagocytic lymphohistiocytosis, familial, 2; FHL2|familial hemophagocytic lymphohistiocytosis type 2|hemophagocytic lymphohistiocytosis, familial, 2|HLH2|HPLH2|genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1|FHL2 gard_rare MONDO:0013996 focal facial dermal dysplasia type II biolink:Disease mondo OMIM:614973|Orphanet:398173|ICD10:Q82.8|UMLS:C3554245 Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities. http://identifiers.org/omim/614973|ORPHA:398173|UMLS:C3554245 http://purl.obolibrary.org/obo/MONDO_0013996 focal facial dermal dysplasia 2, Brauer-Setleis type|Brauer-Setleis syndrome|focal facial dermal dysplasia 2, Brauer-Setleis type; FFDD2|FFDD2|FFDD type II ordo_clinical_subtype HGNC:10599 SCNN1A biolink:OntologyClass mondo http://identifiers.org/hgnc/10599 MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 biolink:Disease mondo MESH:C537252|GARD:0009929|OMIM:603552|DOID:0110924 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene. http://identifiers.org/omim/603552|MESH:C537252|DOID:0110924 http://purl.obolibrary.org/obo/MONDO_0011336 genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11|hemophagocytic lymphohistiocytosis, familial, 4; FHL4|familial hemophagocytic lymphohistiocytosis type 4|HLH4|HPLH4|hemophagocytic lymphohistiocytosis, familial, 4|STX11 genetic hemophagocytic lymphohistiocytosis|FHL4|hemophagocytic lymphohistiocytosis, familial, type 4|Hlh4|Hplh4 gard_rare MONDO:0013997 focal facial dermal dysplasia type IV biolink:Disease mondo OMIM:614974|UMLS:C3554246|ICD10:Q82.8|Orphanet:398189 Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions. http://identifiers.org/omim/614974|ORPHA:398189|UMLS:C3554246 http://purl.obolibrary.org/obo/MONDO_0013997 FFDD type IV|focal facial dermal dysplasia 4|FFDD4|focal facial dermal dysplasia 4; FFDD4|focal Facial dermal dysplasia type 4|focal facial preauricular dysplasia ordo_clinical_subtype MONDO:0001999 primary pulmonary hypertension biolink:Disease mondo DOID:14557|ICD9:416.0|ICD10:I27.0 Increased blood pressure in the arteries of the lungs; the etiology is unknown. NCIT:C97119|DOID:14557 http://purl.obolibrary.org/obo/MONDO_0001999 pulmonary hypertension, primary MONDO:0013990 pontocerebellar hypoplasia type 8 biolink:Disease mondo UMLS:C3554209|OMIM:614961|Orphanet:324569|SCTID:718611007|DOID:0060277|ICD10:Q04.3 A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. http://identifiers.org/omim/614961|SNOMEDCT:718611007|UMLS:C3554209|DOID:0060277|ORPHA:324569 http://purl.obolibrary.org/obo/MONDO_0013990 pontocerebellar hypoplasia due to CHMP1A mutation|pontocerebellar hypoplasia, type 8|non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A|pontocerebellar hypoplasia, type 8; PCH8|CHMP1A non-syndromic pontocerebellar hypoplasia|PCH8 ordo_malformation_syndrome UBERON:0019190 mucous gland of lung biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019190 peribronchial gland|bronchial mucous gland|bronchial gland HGNC:10593 SCN5A biolink:OntologyClass mondo http://identifiers.org/hgnc/10593 MONDO:0013991 obesity due to congenital leptin deficiency biolink:Disease mondo OMIM:614962|GARD:0013015|Orphanet:66628|ICD10:E66.8|UMLS:C3554224 Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia. http://identifiers.org/omim/614962|UMLS:C3554224|ORPHA:66628 http://purl.obolibrary.org/obo/MONDO_0013991 LEPD|leptin deficiency or dysfunction|leptin deficiency or dysfunction; LEPD|obesity, morbid, nonsyndromic 1 gard_rare|ordo_disease HGNC:10591 SCN4A biolink:OntologyClass mondo http://identifiers.org/hgnc/10591 HGNC:10592 SCN4B biolink:OntologyClass mondo http://identifiers.org/hgnc/10592 UBERON:0019189 carotid artery endothelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0019189 carotid epithelium|carotid endothelium HP:0012730 Aglossia biolink:PhenotypicFeature mondo SNOMEDCT_US:74788000|UMLS:C0158663 Absence of the tongue owing to a developmental abnormality. http://purl.obolibrary.org/obo/HP_0012730 Failure of development of tongue|Missing tongue|Absence of tongue MONDO:0023303 obsolete Hamanishi-Ueba-Tsuji syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023303 HP:0012732 Anorectal anomaly biolink:PhenotypicFeature mondo UMLS:C3495676|MSH:D000071056|SNOMEDCT_US:33225004 An abnormality of the anus or rectum. http://purl.obolibrary.org/obo/HP_0012732 MONDO:0023305 heavy metal poisoning biolink:Disease mondo GARD:0006577|EFO:1001518|SCTID:85866007|ICD9:985.8|MESH:C535854 Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure. MESH:C535854|SNOMEDCT:85866007 http://purl.obolibrary.org/obo/MONDO_0023305 toxic effect of heavy metal|heavy metal toxicity|heavy metal poisoning|chronic heavy metal poisoning|heavy metal toxicosis gard_rare MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects biolink:Disease mondo UMLS:C1863919|OMIM:603394|MESH:C566377 http://identifiers.org/omim/603394|UMLS:C1863919|MESH:C566377 http://purl.obolibrary.org/obo/MONDO_0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects HP:0000766 Abnormal sternum morphology biolink:PhenotypicFeature mondo UMLS:C1860493 An anomaly of the sternum, also known as the breastbone. http://purl.obolibrary.org/obo/HP_0000766 Sternal anomalies|Pectus excavatum or carinatum|Abnormality of the sternum|Pectus deformity|Pectus deformities|Pectus carinatum or pectus excavatum|Pectus excavatum or pectus carinatum|Pectus excavatum/carinatum hposlim_core MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions biolink:Disease mondo OMIM:603393|UMLS:C1863920|MESH:C566378 http://identifiers.org/omim/603393|UMLS:C1863920|MESH:C566378 http://purl.obolibrary.org/obo/MONDO_0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions MONDO:0013978 autosomal recessive nonsyndromic deafness 70 biolink:Disease mondo DOID:0110521|UMLS:C1824925|ICD10:H90.3|OMIM:614934 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene. UMLS:C1824925|http://identifiers.org/omim/614934|DOID:0110521 http://purl.obolibrary.org/obo/MONDO_0013978 deafness, autosomal recessive type 70|autosomal recessive nonsyndromic deafness type 70|deafness, autosomal recessive 70|PNPT1 autosomal recessive nonsyndromic deafness|DFNB70|autosomal recessive nonsyndromic deafness caused by mutation in PNPT1|deafness, autosomal recessive 70; DFNB70|autosomal recessive deafness 70 HP:0000769 Abnormality of the breast biolink:PhenotypicFeature mondo UMLS:C4025829 An abnormality of the breast. http://purl.obolibrary.org/obo/HP_0000769 Abnormality of the breast hposlim_core MONDO:0011319 activator of liver function 1 biolink:Disease mondo OMIM:603416 http://identifiers.org/omim/603416 http://purl.obolibrary.org/obo/MONDO_0011319 activator of liver function 1; ALFN1|RPL21P1|activator of liver function type 1|ALFN1|activator of liver function 1|Half1|ribosomal Protein L21 pseudogene 1|ribosomal PROTEIN L21 pseudogene 1; RPL21P1 HP:0000768 Pectus carinatum biolink:PhenotypicFeature mondo SNOMEDCT_US:205101001|MSH:D066166|UMLS:C0158731 A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. http://purl.obolibrary.org/obo/HP_0000768 Pigeon chest hposlim_core MONDO:0013979 primary ciliary dyskinesia 19 biolink:Disease mondo DOID:0110608|ICD10:Q34.8|OMIM:614935|UMLS:C3543826 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene. DOID:0110608|http://identifiers.org/omim/614935|UMLS:C3543826 http://purl.obolibrary.org/obo/MONDO_0013979 ciliary dyskinesia, primary, type 19|primary ciliary dyskinesia type 19|primary ciliary dyskinesia caused by mutation in LRRC6|CILD19|ciliary dyskinesia, primary, 19; CILD19|ciliary dyskinesia, primary, 19|primary ciliary dyskinesia 19 with or without situs inversus|ciliary dyskinesia, primary, 19, with or without situs inversus|LRRC6 primary ciliary dyskinesia MONDO:0011318 Tonoki syndrome biolink:Disease mondo UMLS:C1863918|OMIM:603396|GARD:0010219|MESH:C536967 MESH:C536967|http://identifiers.org/omim/603396|UMLS:C1863918 http://purl.obolibrary.org/obo/MONDO_0011318 short stature, brachydactyly, nail dysplasia and mental retardation|Tonoki syndrome|short stature, brachydactyly, nail dysplasia and intellectual disability gard_rare CHEBI:30938 6-aminopenicillanate biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_30938 (2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate GO:1904169 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_1904169 GO:1904168 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_1904168 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive biolink:Disease mondo UMLS:C3539920|OMIM:614941 http://identifiers.org/omim/614941|UMLS:C3539920 http://purl.obolibrary.org/obo/MONDO_0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive; ECTD11B|ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic|ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|ECTD11B MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome biolink:Disease mondo OMIM:603438|Orphanet:3268|GARD:0000394|UMLS:C1863881 Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as GuiffrC)-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. ORPHA:3268|UMLS:C1863881|http://identifiers.org/omim/603438 http://purl.obolibrary.org/obo/MONDO_0011320 radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability|radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability|GiuffrC)-Tsukahara syndrome|Giuffré-Tsukahara syndrome|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation|Tsukahara syndrome|Giuffre-Tsukahara syndrome ordo_malformation_syndrome MONDO:0013984 autosomal recessive nonsyndromic deafness 84B biolink:Disease mondo DOID:0110530|ICD10:H90.3|OMIM:614944|UMLS:C3554159 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene. http://identifiers.org/omim/614944|UMLS:C3554159|DOID:0110530 http://purl.obolibrary.org/obo/MONDO_0013984 autosomal recessive deafness 84B|OTOGL autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 84B|DFNB84B|autosomal recessive nonsyndromic deafness caused by mutation in OTOGL|deafness, autosomal recessive type 84B|autosomal recessive nonsyndromic deafness type 84B|deafness, autosomal recessive 84B; DFNB84B MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type biolink:Disease mondo UMLS:C1863879|OMIM:603446|MESH:C566374 http://identifiers.org/omim/603446|UMLS:C1863879|MESH:C566374 http://purl.obolibrary.org/obo/MONDO_0011322 Oroacral syndrome, Verloes-Koulischer type MONDO:0013981 familial cortical myoclonus biolink:Disease mondo ICD10:G25.3|OMIMPS:614937|SCTID:763770005|Orphanet:319189|UMLS:C3539916 Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. UMLS:C3539916|SNOMEDCT:763770005|ORPHA:319189 http://purl.obolibrary.org/obo/MONDO_0013981 myoclonus, familial cortical; FCM|myoclonus, familial cortical|FCM|familial myoclonus ordo_disease MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant biolink:Disease mondo UMLS:C3541517|OMIM:614940 http://identifiers.org/omim/614940|UMLS:C3541517 http://purl.obolibrary.org/obo/MONDO_0013982 ectodermal dysplasia, hypohidrotic, autosomal dominant|ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|ECTD11A|ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; ECTD11A MONDO:0011321 expansile bone lesions biolink:Disease mondo OMIM:603439|UMLS:C1863880|MESH:C566375 UMLS:C1863880|MESH:C566375|http://identifiers.org/omim/603439 http://purl.obolibrary.org/obo/MONDO_0011321 expansile bone lesions HP:0000763 Sensory neuropathy biolink:PhenotypicFeature mondo UMLS:C0151313|SNOMEDCT_US:95662005 Peripheral neuropathy affecting the sensory nerves. http://purl.obolibrary.org/obo/HP_0000763 Damage to nerves that sense feeling|Peripheral sensory neuropathy MONDO:0013987 combined oxidative phosphorylation defect type 15 biolink:Disease mondo SCTID:763203009|ICD10:G31.8|Orphanet:319524|UMLS:C3554182|OMIM:614947 Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. ORPHA:319524|http://identifiers.org/omim/614947|SNOMEDCT:763203009|UMLS:C3554182 http://purl.obolibrary.org/obo/MONDO_0013987 combined oxidative phosphorylation deficiency 15|COXPD15|combined oxidative phosphorylation deficiency caused by mutation in MTFMT|combined oxidative phosphorylation deficiency 15; COXPD15|combined oxidative phosphorylation deficiency type 15|MTFMT combined oxidative phosphorylation deficiency ordo_disease MONDO:0011324 obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011324 MONDO:0011323 arhinia, choanal atresia, and microphthalmia biolink:Disease mondo MESH:C537429|OMIM:603457|SCTID:720511000 http://identifiers.org/omim/603457|MESH:C537429|SNOMEDCT:720511000 http://purl.obolibrary.org/obo/MONDO_0011323 arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism|BOSMA arhinia microphthalmia syndrome; BAMS|arhinia, choanal atresia, and microphthalmia|BAMS|Bosma arhinia microphthalmia syndrome MONDO:0013988 CHTD3 biolink:Disease mondo UMLS:C3554194|OMIM:614954 http://identifiers.org/omim/614954|UMLS:C3554194 http://purl.obolibrary.org/obo/MONDO_0013988 congenital heart defects, multiple types, 3; CHTD3|congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances|congenital heart defects, multiple types, 3|CHTD3 MONDO:0013985 autosomal recessive nonsyndromic deafness 18B biolink:Disease mondo ICD10:H90.3|DOID:0110474|UMLS:C3554163|OMIM:614945 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene. http://identifiers.org/omim/614945|UMLS:C3554163|DOID:0110474 http://purl.obolibrary.org/obo/MONDO_0013985 deafness, autosomal recessive 18B|DFNB18B|deafness, autosomal recessive type 18B|OTOG autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 18B|autosomal recessive deafness 18B|deafness, autosomal recessive 18B; DFNB18B|autosomal recessive nonsyndromic deafness caused by mutation in OTOG MONDO:0011326 citrullinemia, type II, adult-onset biolink:Disease mondo GARD:0010215|OMIM:603471 Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern. http://identifiers.org/omim/603471 http://purl.obolibrary.org/obo/MONDO_0011326 citrullinemia type 2|adult-onset citrullinemia type 2|citrullinemia, type II, ADULT-onset; CTLN2|citrin deficiency|adult-onset citrullinemia type II|citrullinemia type II|citrullinemia, type II, adult-onset|CTLN2 gard_rare HP:0000765 Abnormal thorax morphology biolink:PhenotypicFeature mondo UMLS:C4021797 Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). http://purl.obolibrary.org/obo/HP_0000765 Abnormality of the thorax|Abnormality of the chest|Structural abnormality of the chest wall GO:1904172 positive regulation of bleb assembly biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of bleb assembly. http://purl.obolibrary.org/obo/GO_1904172 upregulation of cell blebbing|up regulation of bleb assembly|activation of bleb assembly|upregulation of bleb assembly|up-regulation of cell blebbing|up regulation of cell blebbing|positive regulation of cell blebbing|activation of cell blebbing|up-regulation of bleb assembly MONDO:0011325 Fanconi anemia complementation group f biolink:Disease mondo OMIM:603467|EFO:0009045|DOID:0111088|NCIT:C125707 Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. http://identifiers.org/omim/603467|NCIT:C125707|DOID:0111088 http://purl.obolibrary.org/obo/MONDO_0011325 Fanconi Anemia, complementation group type F|FANCF|Fanconi anemia, complementation group F|Fanconi anemia, complementation group F; FANCF|Fanconi anemia complementation group type F MONDO:0013986 combined oxidative phosphorylation defect type 14 biolink:Disease mondo UMLS:C3554168|Orphanet:319519|ICD10:E88.8|OMIM:614946 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene. ORPHA:319519|http://identifiers.org/omim/614946|UMLS:C3554168 http://purl.obolibrary.org/obo/MONDO_0013986 combined oxidative phosphorylation deficiency 14|combined oxidative phosphorylation deficiency caused by mutation in FARS2|combined oxidative phosphorylation deficiency 14; COXPD14|combined oxidative phosphorylation deficiency type 14|COXPD14|FARS2 combined oxidative phosphorylation deficiency ordo_disease GO:1904171 negative regulation of bleb assembly biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly. http://purl.obolibrary.org/obo/GO_1904171 down-regulation of cell blebbing|negative regulation of cell blebbing|down regulation of cell blebbing|down-regulation of bleb assembly|downregulation of cell blebbing|inhibition of cell blebbing|down regulation of bleb assembly|downregulation of bleb assembly|inhibition of bleb assembly GO:1904170 regulation of bleb assembly biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of bleb assembly. http://purl.obolibrary.org/obo/GO_1904170 regulation of cell blebbing HP:0012735 Cough biolink:PhenotypicFeature mondo SNOMEDCT_US:49727002|UMLS:C0010200|SNOMEDCT_US:263731006|SNOMEDCT_US:272039006|MSH:D003371 A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. http://purl.obolibrary.org/obo/HP_0012735 Cough|Coughing WIKIDATA:Q2306597 Suni biolink:OntologyClass mondo "Suni, or Jalca, is one of the eight Natural Regions of Peru. It is located in the Andes at an altitude between 3,500 and 4,000 metres above sea level. Suni has a dry and cold weather and there are many glacial valleys. The flora includes gramineous plants and shrubs such as the taya-taya (Caesalpinia spinosa), the quishuar (Buddleja coriacea), and the cantuta (Cantua buxifolia) which was considered sacred by the Incas. Even though it is hard for plants to grow because of the weather, people are able to cultivate such crops as quinoa, qañiwa, broad beans and ulluku (Ullucus tuberosus). The main fauna is the guinea pig and, among numerous other highland birds, the Chiguanco thrush." https://www.wikidata.org/wiki/Q2306597 Jalca MONDO:0013980 PPKP1B biolink:Disease mondo OMIM:614936|UMLS:C3554145 http://identifiers.org/omim/614936|UMLS:C3554145 http://purl.obolibrary.org/obo/MONDO_0013980 palmoplantar keratoderma, punctate type IB; PPKP1B|palmoplantar keratoderma, punctate type IB|PPKP1B MONDO:0001983 peripheral degeneration of cornea biolink:Disease mondo UMLS:C0155123|ICD9:371.48|SCTID:89182000|DOID:14507|ICD10:H18.46 SNOMEDCT:89182000|DOID:14507|UMLS:C0155123 http://purl.obolibrary.org/obo/MONDO_0001983 peripheral degenerations of cornea MONDO:0001982 Niemann-Pick disease biolink:Disease mondo EFO:1001380|ICD10:E75.242|GARD:0013334|ICD10:E75.24|NCIT:C61269|MESH:D009542|UMLS:C0028064|DOID:14504|ICD10:E75.249|SCTID:58459009 A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. UMLS:C0028064|SNOMEDCT:58459009|MESH:D009542|DOID:14504|NCIT:C61269 http://purl.obolibrary.org/obo/MONDO_0001982 type A Niemann-Pick disease|lipoid histiocytosis (classical phosphatide)|sphingomyelinase deficiency disease|Niemann-Pick disease with cholesterol esterification block|sphingomyelin/cholesterol lipidosis|sphingomyelin lipidosis|lipoid histiocytosis|Niemann-Pick disease, subacute juvenile form gard_rare MONDO:0001981 obsolete cholesterol ester storage disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001981 MONDO:0001980 obsolete Wolman disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001980 MONDO:0001987 senile degeneration of brain biolink:Disease mondo UMLS:C0154669|DOID:14524|SCTID:45864009|ICD9:331.2|COHD:373179 UMLS:C0154669|SNOMEDCT:45864009|DOID:14524 http://purl.obolibrary.org/obo/MONDO_0001987 Senile brain degen. MONDO:0001986 Argyll Robertson pupil biolink:Disease mondo SCTID:21011008|DOID:14523|UMLS:C0155375|ICD10:H57.01|ICD9:379.45 SNOMEDCT:21011008|DOID:14523|UMLS:C0155375 http://purl.obolibrary.org/obo/MONDO_0001986 atypical Argyll-Robertson pupil|Argyll Robertson phenomenon or pupil, nonsyphilitic|Argyll Robertson pupil, atypical MONDO:0001985 partial arterial retinal occlusion biolink:Disease mondo UMLS:C0154839|ICD10:H34.21|DOID:14522|ICD10:H34.219|NCIT:C35192|SCTID:776009|ICD9:362.33 A partial occlusion of the retinal artery. UMLS:C0154839|SNOMEDCT:776009|NCIT:C35192|DOID:14522 http://purl.obolibrary.org/obo/MONDO_0001985 partial retinal arterial occlusion|retinal partial arterial occlusion MONDO:0025956 ovarian remnant syndrome biolink:Disease mondo GARD:0007297 Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function. http://purl.obolibrary.org/obo/MONDO_0025956 gard_rare MONDO:0001984 candidal paronychia biolink:Disease mondo DOID:14512|ICD9:112.3|COHD:133414|UMLS:C0006842|UMLS:C1282977|ICD10:B37.2|SCTID:187014000 A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. UMLS:C0006842|SNOMEDCT:187014000|DOID:14512|UMLS:C1282977 http://purl.obolibrary.org/obo/MONDO_0001984 candidiasis of skin and nails|candidiasis of skin MONDO:0013969 combined oxidative phosphorylation defect type 11 biolink:Disease mondo OMIM:614922|Orphanet:324535|UMLS:C3554067|ICD10:G31.8 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene. ORPHA:324535|http://identifiers.org/omim/614922|UMLS:C3554067 http://purl.obolibrary.org/obo/MONDO_0013969 combined oxidative phosphorylation deficiency type 11|COXPD11|combined oxidative phosphorylation deficiency 11; COXPD11|combined oxidative phosphorylation deficiency 11|RMND1 combined oxidative phosphorylation deficiency|Encephaloneuromyopathy, infantile, due to mitochondrial translation defect|combined oxidative phosphorylation deficiency caused by mutation in RMND1 ordo_disease MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy biolink:Disease mondo OMIM:603323|UMLS:C1864028|MESH:C566392 UMLS:C1864028|http://identifiers.org/omim/603323|MESH:C566392 http://purl.obolibrary.org/obo/MONDO_0011306 muscular dystrophy, congenital, with cerebellar atrophy MONDO:0011305 cerebral cavernous malformation 3 biolink:Disease mondo DOID:0060671|ICD10:Q28.3|MESH:C566393|OMIM:603285|UMLS:C1864040 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene. DOID:0060671|http://identifiers.org/omim/603285|UMLS:C1864040|MESH:C566393 http://purl.obolibrary.org/obo/MONDO_0011305 PDCD10 familial cerebral cavernous malformation|cerebral cavernous malformation type 3|cerebral cavernous malformations 3; CCM3|familial cerebral cavernous malformation caused by mutation in PDCD10|cerebral cavernous malformations type 3|CCM3|cerebral cavernous malformations 3 MONDO:0011308 gracile syndrome biolink:Disease mondo GARD:0000001|SCTID:703388005|UMLS:C1864002|ICD9:759.89|Orphanet:53693|ICD10:E88.8|MESH:C537934|OMIM:603358 GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). MESH:C537934|UMLS:C1864002|ORPHA:53693|http://identifiers.org/omim/603358|SNOMEDCT:703388005 http://purl.obolibrary.org/obo/MONDO_0011308 Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death|Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death|Fellman syndrome|Fellman disease|Finnish lethal neonatal metabolic syndrome|gracile syndrome|lactic acidosis, Finnish, with hepatic hemosiderosis|Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|FLNMS|Finnish lactic acidosis with hepatic hemosiderosis ordo_disease|gard_rare MONDO:0013967 peroxisome biogenesis disorder 14B biolink:Disease mondo UMLS:C3554055|OMIM:614920 Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene. http://identifiers.org/omim/614920|UMLS:C3554055 http://purl.obolibrary.org/obo/MONDO_0013967 peroxisome biogenesis disorder 14B|PEX11B peroxisome biogenesis disorder|PEX14B|peroxisome biogenesis disorder type 14B|peroxisome biogenesis disorder caused by mutation in PEX11B|peroxisome biogenesis disorder 14B; PEX14B MONDO:0013968 PGM1-CDG biolink:Disease mondo GARD:0004329|MESH:C567859|ICD10:E77.8|OMIM:614921|Orphanet:319646|UMLS:C2752015 ORPHA:319646|http://identifiers.org/omim/614921|MESH:C567859|UMLS:C2752015 http://purl.obolibrary.org/obo/MONDO_0013968 congenital disorder of glycosylation type It|CDG it|GSDXIV|type 14 glycogenosis|congenital disorder of glycosylation, type It; CDG1T|glycogen storage disease due to phosphoglucomutase deficiency|GSD type 14|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation type 1t|CDG-It|Pgm1 deficiency|congenital disorder of glycosylation, type It|glycogen storage disease 14|GSD 14|CDG1T|phosphoglucomutase deficiency type 1|phosphoglucomutase-1 deficiency|CDG syndrome type It ordo_disease MONDO:0011307 SCZD2 biolink:Disease mondo OMIM:603342|DOID:0070078|UMLS:C1864010 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21. UMLS:C1864010|http://identifiers.org/omim/603342|DOID:0070078 http://purl.obolibrary.org/obo/MONDO_0011307 schizophrenia 2|schizophrenia susceptibility locus, chromosome 11Q-related|SCZD2|schizophrenia 2; SCZD2 MONDO:0011309 familial gestational hyperthyroidism biolink:Disease mondo ICD10:E05.8|MESH:C566384|SCTID:703309000|ICD9:242.80|OMIM:603373|Orphanet:99819|ICD9:648.10|UMLS:C1863959 http://identifiers.org/omim/603373|UMLS:C1863959|MESH:C566384|ORPHA:99819|SNOMEDCT:703309000 http://purl.obolibrary.org/obo/MONDO_0011309 hyperthyroidism, familial gestational ordo_disease HP:0000737 Irritability biolink:PhenotypicFeature mondo UMLS:C2700617 http://purl.obolibrary.org/obo/HP_0000737 Irritable|Irritability HP:0000739 Anxiety biolink:PhenotypicFeature mondo UMLS:C4020884|MSH:D001007|SNOMEDCT_US:48694002|UMLS:C0003467 Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. http://purl.obolibrary.org/obo/HP_0000739 Anxiety disease|Anxiousness|Excessive, persistent worry and fear|Anxiety MONDO:0013972 Perrault syndrome 2 biolink:Disease mondo UMLS:C3554105|OMIM:614926 Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene. http://identifiers.org/omim/614926|UMLS:C3554105 http://purl.obolibrary.org/obo/MONDO_0013972 PRLTS2|Perrault syndrome type 2|HARS2 Perrault syndrome|Perrault syndrome 2|Perrault syndrome 2; PRLTS2|Perrault syndrome caused by mutation in HARS2 MONDO:0013973 ECTD5 biolink:Disease mondo UMLS:C3554108|OMIM:614927 http://identifiers.org/omim/614927|UMLS:C3554108 http://purl.obolibrary.org/obo/MONDO_0013973 ectodermal dysplasia 5, hair/nail type|ectodermal dysplasia 5, hair/nail type; ECTD5|ECTD5 MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency biolink:Disease mondo ICD10:E71.1|UMLS:C3554078|DOID:0090126|OMIM:614923|Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. http://identifiers.org/omim/614923|UMLS:C3554078|DOID:0090126|ORPHA:308410 http://purl.obolibrary.org/obo/MONDO_0013970 branched-chain keto acid dehydrogenase kinase deficiency|autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency|BCKDKD|branched-chain KETO acid dehydrogenase KINASE deficiency; BCKDKD|BCKDK deficiency|Bckdk deficiency ordo_disease MONDO:0011311 glaucoma 1, open angle, f biolink:Disease mondo MESH:C566383|OMIM:603383 http://identifiers.org/omim/603383|MESH:C566383 http://purl.obolibrary.org/obo/MONDO_0011311 glaucoma 1, open angle, type F|glaucoma 1, open angle, F; GLC1F|glaucoma 1, open angle, f|glaucoma, primary open angle, adult-onset|GLC1F MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome biolink:Disease mondo Orphanet:314051|UMLS:C3554079|GARD:0013381|SCTID:763366000|OMIM:614924 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward. http://identifiers.org/omim/614924|SNOMEDCT:763366000|ORPHA:314051|UMLS:C3554079 http://purl.obolibrary.org/obo/MONDO_0013971 combined oxidative phosphorylation deficiency 12|combined oxidative phosphorylation deficiency 12; COXPD12|combined oxidative phosphorylation deficiency caused by mutation in EARS2|LTBL|leukoencephalopathy with thalamus and brainstem involvement and high lactate|combined oxidative phosphorylation defect type 12|COXPD12|combined oxidative phosphorylation deficiency type 12|EARS2 combined oxidative phosphorylation deficiency ordo_disease MONDO:0011310 long chain fatty acids, defect in transport of biolink:Disease mondo OMIM:603376 http://identifiers.org/omim/603376 http://purl.obolibrary.org/obo/MONDO_0011310 long chain fatty acids, defect in TRANSPORT OF MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 biolink:Disease mondo OMIM:603387|MESH:C566381 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene. http://identifiers.org/omim/603387|MESH:C566381 http://purl.obolibrary.org/obo/MONDO_0011313 Meg-PMG-Megacc syndrome|MPPH1|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2|megalencephaly, mega corpus callosum, and complete lack of motor development|megalencephaly, polymicrogyria, mega corpus callosum syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1|PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; MPPH1|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 MONDO:0013976 ectodermal dysplasia 9, hair/nail type biolink:Disease mondo OMIM:614931|UMLS:C3554127 Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene. http://identifiers.org/omim/614931|UMLS:C3554127 http://purl.obolibrary.org/obo/MONDO_0013976 ectodermal dysplasia 9, hair/nail type; ECTD9|ECTD9|HOXC13 pure hair and nail ectodermal dysplasia|ectodermal dysplasia 9, hair/nail type|pure hair and nail ectodermal dysplasia caused by mutation in HOXC13 UBERON:0007197 hermaphroditic organism biolink:AnatomicalEntity mondo multicellular organism that can produce both male and female gametes. http://purl.obolibrary.org/obo/UBERON_0007197 hermaphrodite|dioecious organism MONDO:0013977 combined oxidative phosphorylation defect type 13 biolink:Disease mondo SCTID:763110007|OMIM:614932|Orphanet:319514|UMLS:C3554129|ICD10:G71.3 Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive. ORPHA:319514|http://identifiers.org/omim/614932|UMLS:C3554129|SNOMEDCT:763110007 http://purl.obolibrary.org/obo/MONDO_0013977 combined oxidative phosphorylation deficiency 13|COXPD13|combined oxidative phosphorylation deficiency 13; COXPD13|PNPT1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in PNPT1|combined oxidative phosphorylation deficiency type 13 ordo_disease MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia biolink:Disease mondo OMIM:603386|GARD:0008488|UMLS:C1863925|MESH:C537842 http://identifiers.org/omim/603386|UMLS:C1863925|MESH:C537842 http://purl.obolibrary.org/obo/MONDO_0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia|TCO1|TCO|nonmedullary thyroid carcinoma, with or without cell oxyphilia|TCO 1 gard_rare UBERON:0007196 tracheobronchial tree biolink:AnatomicalEntity mondo The structure from the trachea, bronchi, and bronchioles that forms the airways that supply air to the lungs. The lining of the tracheobronchial tree consists of ciliated columnar epithelial cells. http://purl.obolibrary.org/obo/UBERON_0007196 tracheobronchial system|arbor tracheobronchialis MONDO:0013974 ECTD6 biolink:Disease mondo OMIM:614928|UMLS:C3554111 http://identifiers.org/omim/614928|UMLS:C3554111 http://purl.obolibrary.org/obo/MONDO_0013974 ectodermal dysplasia 6, hair/nail type|ECTD6|ectodermal dysplasia 6, hair/nail type; ECTD6 MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome biolink:Disease mondo MESH:C566380|UMLS:C1863922|OMIM:603389 http://identifiers.org/omim/603389|UMLS:C1863922|MESH:C566380 http://purl.obolibrary.org/obo/MONDO_0011315 Osebold skeletal dysplasia/osteolysis syndrome MONDO:0011314 Graves disease, susceptibility to, 2 biolink:Disease mondo OMIM:603388 http://identifiers.org/omim/603388 http://purl.obolibrary.org/obo/MONDO_0011314 Graves disease, susceptibility to, 2|Graves disease, susceptibility to, type 2|Grd2 predisposition MONDO:0013975 ectodermal dysplasia 7, hair/nail type biolink:Disease mondo OMIM:614929|UMLS:C3554117 Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene. http://identifiers.org/omim/614929|UMLS:C3554117 http://purl.obolibrary.org/obo/MONDO_0013975 ECTD7|KRT74 pure hair and nail ectodermal dysplasia|ectodermal dysplasia 7, hair/nail type|pure hair and nail ectodermal dysplasia caused by mutation in KRT74|ectodermal dysplasia 7, hair/nail type; ECTD7 UBERON:0007195 stroma of bone marrow biolink:AnatomicalEntity mondo The stroma of the bone marrow is all tissue not directly involved in the primary function of hematopoiesis. The yellow bone marrow belongs here, and makes the majority of the bone marrow stroma, in addition to stromal cells located in the red bone marrow. Yellow bone marrow is found in the Medullary cavity. Still, the stroma is indirectly involved in hematopoiesis, since it provides the hematopoietic microenvironment that facilitates hematopoiesis by the parenchymal cells. For instance, they generate colony stimulating factors, affecting hematopoiesis. http://purl.obolibrary.org/obo/UBERON_0007195 bone marrow stroma MONDO:0001979 dumping syndrome biolink:Disease mondo ICD10:K91.1|NCIT:C2994|EFO:1001307|MESH:D004377|UMLS:C0013288|DOID:14495 A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss. MESH:D004377|UMLS:C0013288|NCIT:C2994|DOID:14495 http://purl.obolibrary.org/obo/MONDO_0001979 dumping (jejunal) syndrome|jejunal syndrome MONDO:0001978 regional ureteric cancer biolink:Disease mondo NCIT:C9356|UMLS:C0854921|DOID:14491 Carcinoma of the ureter without spread to any other region. UMLS:C0854921|NCIT:C9356|DOID:14491 http://purl.obolibrary.org/obo/MONDO_0001978 regional malignant ureteral tumor|regional ureter carcinoma|regional ureteric carcinoma MONDO:0001977 ureteral lymphoma biolink:Disease mondo UMLS:C1336876|NCIT:C6175|DOID:14489 A lymphoma that involves the ureter. NCIT:C6175|UMLS:C1336876|DOID:14489 http://purl.obolibrary.org/obo/MONDO_0001977 lymphoma of the ureter|ureter lymphoma|primary ureter lymphoma|lymphoma of ureter|ureteral lymphoma MONDO:0001994 sphenoidal sinus cancer biolink:Disease mondo UMLS:C0153479|NCIT:C3543|ICD10:C31.3|ICD9:160.5|DOID:14546|SCTID:363428005 A malignant neoplasm involving the sphenoidal sinus. UMLS:C0153479|NCIT:C3543|DOID:14546|SNOMEDCT:363428005 http://purl.obolibrary.org/obo/MONDO_0001994 malignant tumor of the sphenoidal sinus|malignant neoplasm of sphenoid sinus|malignant neoplasm of the sphenoid sinus|malignant sphenoid sinus tumor|malignant sphenoid sinus neoplasm|malignant neoplasm of sphenoidal sinus|malignant tumor of sphenoidal sinus|malignant neoplasm of the sphenoidal sinus|malignant sphenoidal sinus tumor|sphenoidal sinus cancer|malignant tumor of sphenoid sinus|malignant tumor of the sphenoid sinus|cancer of sphenoidal sinus|malignant sphenoidal sinus neoplasm MONDO:0001993 seminal vesicle adenocarcinoma biolink:Disease mondo NCIT:C39906|UMLS:C1519233|DOID:14545 A carcinoma that arises from glandular epithelial cells of the seminal vesicle NCIT:C39906|DOID:14545|UMLS:C1519233 http://purl.obolibrary.org/obo/MONDO_0001993 seminal vesicle adenocarcinoma MONDO:0001992 rete testis adenocarcinoma biolink:Disease mondo NCIT:C8955|UMLS:C0863024|DOID:14544 A carcinoma that arises from glandular epithelial cells of the rete testis DOID:14544|NCIT:C8955|UMLS:C0863024 http://purl.obolibrary.org/obo/MONDO_0001992 adenocarcinoma of the rete testis|rete testis adenocarcinoma|adenocarcinoma of rete testis|carcinoma, rete testis, malignant MONDO:0001991 malignant cardiac germ cell tumor biolink:Disease mondo NCIT:C5371|UMLS:C1334566|DOID:14535 A rare malignant germ cell tumor that arises from the pericardium. UMLS:C1334566|DOID:14535|NCIT:C5371 http://purl.obolibrary.org/obo/MONDO_0001991 malignant germ cell tumor of heart|malignant Cardiac germ cell neoplasm|malignant Cardiac germ cell tumor|malignant germ cell tumor of the heart|malignant germ cell neoplasm of the heart|malignant germ cell neoplasm of heart|malignant heart germ cell tumor|malignant heart germ cell neoplasm MONDO:0001998 Foster-Kennedy syndrome biolink:Disease mondo DOID:14555|UMLS:C0152112|ICD9:377.04|EFO:1001330|SCTID:87764000|ICD10:H47.14 Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect. UMLS:C0152112|SNOMEDCT:87764000|DOID:14555 http://purl.obolibrary.org/obo/MONDO_0001998 MONDO:0001997 root resorption biolink:Disease mondo MESH:D012391|DOID:14550|UMLS:C0035851 Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed) UMLS:C0035851|MESH:D012391|DOID:14550 http://purl.obolibrary.org/obo/MONDO_0001997 MONDO:0001996 steroid-induced glaucoma - borderline biolink:Disease mondo SCTID:302895007|COHD:435809|ICD9:365.03|DOID:14548|UMLS:C0339572 SNOMEDCT:302895007|UMLS:C0339572|DOID:14548 http://purl.obolibrary.org/obo/MONDO_0001996 borderline glaucoma steroid responder|steroid responders borderline glaucoma MONDO:0001995 sphenoid sinus squamous cell carcinoma biolink:Disease mondo UMLS:C1336039|NCIT:C6066|SCTID:707355002|DOID:14547 A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. DOID:14547|NCIT:C6066|SNOMEDCT:707355002|UMLS:C1336039 http://purl.obolibrary.org/obo/MONDO_0001995 epidermoid carcinoma of the sphenoidal sinus|sphenoidal sinus epidermoid carcinoma|squamous cell carcinoma of sphenoidal sinus|squamous cell carcinoma of the sphenoidal sinus|sphenoidal sinus squamous cell carcinoma|epidermoid carcinoma of sphenoid sinus|epidermoid carcinoma of the sphenoid sinus|sphenoid sinus squamous cell carcinoma|sphenoid sinus epidermoid carcinoma|epidermoid carcinoma of sphenoidal sinus|squamous cell carcinoma of sphenoid sinus|squamous cell carcinoma of the sphenoid sinus HP:0000745 Diminished motivation biolink:PhenotypicFeature mondo UMLS:C0456814|SNOMEDCT_US:277521002 A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. http://purl.obolibrary.org/obo/HP_0000745 Lack of motivation|Lacking in initiative|Diminished motivation|Lacks initiative|Lack of initiative MONDO:0013958 obsolete monocyte and dendritic cell deficiency, autosomal recessive biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013958 UBERON:0007182 muscle layer of infundibulum of uterine tube biolink:AnatomicalEntity mondo A muscle layer that is part of a uterine tube infundibulum. http://purl.obolibrary.org/obo/UBERON_0007182 muscularis of infundibulum of uterine tube|muscle layer of infundibulum of oviduct|muscle layer of infundibulum of fallopian tube MONDO:0013959 Charcot-Marie-Tooth disease type 4F biolink:Disease mondo UMLS:C3540453|ICD10:G60.0|GARD:0012441|Orphanet:99952|OMIM:614895|SCTID:715801001|DOID:0110193 Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. DOID:0110193|SNOMEDCT:715801001|UMLS:C3540453|http://identifiers.org/omim/614895|ORPHA:99952 http://purl.obolibrary.org/obo/MONDO_0013959 Charcot-Marie-Tooth disease, demyelinating, type 4F|Charcot-Marie-Tooth disease, demyelinating, type 4F; CMT4F|Charcot-Marie-Tooth disease type 4 caused by mutation in Prx|Charcot-Marie-Tooth disease type 4 caused by mutation in PRX|CMT4F|PRX Charcot-Marie-Tooth disease type 4|Prx Charcot-Marie-Tooth disease type 4 ordo_disease|gard_rare MONDO:0013956 mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency biolink:Disease mondo ICD10:D84.8|Orphanet:319595|UMLS:C4013950|OMIM:614892 Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. UMLS:C4013950|ORPHA:319595|http://identifiers.org/omim/614892 http://purl.obolibrary.org/obo/MONDO_0013956 immunodeficiency 31A; IMD31A|MSMD due to partial signal transducer and activator of transcription 1 deficiency|MSMD due to partial STAT1 deficiency|immunodeficiency 31A, Mycobacteriosis, autosomal dominant|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1|IMD31A|Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency|STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|immunodeficiency 31A|Stat1 deficiency, autosomal dominant|immunodeficiency type 31A predisposition|ordo_disease UBERON:0007181 serosa of infundibulum of uterine tube biolink:AnatomicalEntity mondo A serous membrane that is part of a uterine tube infundibulum. http://purl.obolibrary.org/obo/UBERON_0007181 serosa of infundibulum of fallopian tube|serosa of infundibulum of oviduct MONDO:0013957 mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency biolink:Disease mondo Orphanet:319600|UMLS:C3808589|ICD10:D84.8|OMIM:614893 Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG).. UMLS:C3808589|ORPHA:319600|http://identifiers.org/omim/614893 http://purl.obolibrary.org/obo/MONDO_0013957 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8|immunodeficiency 32A|MSMD due to partial IRF8 deficiency|immunodeficiency type 32A|immunodeficiency 32A; IMD32A|Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficiency 32A, Mycobacteriosis, autosomal dominant|IMD32A|MSMD due to partial interferon regulatory factor 8 deficiency|CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant|IRF8 deficiency, autosomal dominant|IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency ordo_disease|predisposition MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm biolink:Disease mondo UMLS:C1334569|NCIT:C5367|DOID:14534 A very rare malignant peripheral nerve sheath tumor that arises from the heart. UMLS:C1334569|DOID:14534|NCIT:C5367 http://purl.obolibrary.org/obo/MONDO_0001990 malignant schwannoma of the heart|malignant heart schwannoma|malignant Cardiac neurilemmoma|malignant schwannoma of heart|MPNST of heart|Cardiac malignant peripheral nerve sheath tumor|malignant neurilemmoma of the heart|malignant Cardiac peripheral nerve sheath tumor|Cardiac MPNST|malignant neurilemmoma of heart|malignant Cardiac schwannoma|CARDIAC schwannoma, malignant|malignant peripheral nerve sheath neoplasm of the heart|malignant peripheral nerve sheath neoplasm of heart|malignant heart peripheral nerve sheath tumor|heart malignant peripheral nerve sheath tumor|malignant heart peripheral nerve sheath neoplasm|heart MPNST|MPNST of the heart|malignant peripheral nerve sheath tumor of the heart|malignant peripheral nerve sheath tumor of heart|malignant heart neurilemmoma|malignant Cardiac peripheral nerve sheath neoplasm MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia biolink:Disease mondo DOID:0090080|UMLS:C3554021|ICD10:E23.0|OMIM:614897 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene. http://identifiers.org/omim/614897|UMLS:C3554021|DOID:0090080 http://purl.obolibrary.org/obo/MONDO_0013961 hypogonadotropic hypogonadism 16 with or without anosmia|hypogonadotropic hypogonadism 16 with or without anosmia; HH16|hypogonadotropic hypogonadism caused by mutation in SEMA3A|SEMA3A hypogonadotropic hypogonadism|HH16 HGNC:10586 SCN1B biolink:OntologyClass mondo http://identifiers.org/hgnc/10586 MONDO:0013962 hereditary spastic paraplegia 53 biolink:Disease mondo Orphanet:319199|ICD10:G11.4|DOID:0110805|SCTID:723823004|UMLS:C3539494|OMIM:614898|UMLS:C4510082 A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. UMLS:C4510082|ORPHA:319199|http://identifiers.org/omim/614898|SNOMEDCT:723823004|UMLS:C3539494|DOID:0110805 http://purl.obolibrary.org/obo/MONDO_0013962 spastic paraplegia 53, autosomal recessive|spastic paraplegia 53, autosomal recessive; SPG53|autosomal recessive complex spastic paraplegia caused by mutation in VPS37A|autosomal recessive spastic paraplegia type 53|SPG53|autosomal recessive spastic paraplegia 53|VPS37A autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia type 53 ordo_disease MONDO:0011300 MYP3 biolink:Disease mondo MESH:C566397|UMLS:C1864111|OMIM:603221 http://identifiers.org/omim/603221|UMLS:C1864111|MESH:C566397 http://purl.obolibrary.org/obo/MONDO_0011300 myopia 3, autosomal dominant|MYP3|myopia 3, autosomal dominant; MYP3 MONDO:0013960 sinoatrial node dysfunction and deafness biolink:Disease mondo Orphanet:324321|OMIM:614896|UMLS:C3554018 Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. ORPHA:324321|http://identifiers.org/omim/614896|UMLS:C3554018 http://purl.obolibrary.org/obo/MONDO_0013960 sinoatrial node dysfunction and deafness; SANDD|SANDD|sinoatrial node dysfunction and deafness ordo_disease UBERON:0007188 mesothelium of serous pericardium biolink:AnatomicalEntity mondo A mesothelium that is part of a serous pericardium. http://purl.obolibrary.org/obo/UBERON_0007188 pericardial mesothelium|mesothelium of pericardium|serous pericardium mesothelium HGNC:10585 SCN1A biolink:OntologyClass mondo http://identifiers.org/hgnc/10585 MONDO:0013965 lethal congenital contracture syndrome 4 biolink:Disease mondo OMIM:614915|UMLS:C3554046|GARD:0012645|DOID:0060654 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene. DOID:0060654|http://identifiers.org/omim/614915|UMLS:C3554046 http://purl.obolibrary.org/obo/MONDO_0013965 LCCS4|lethal congenital contracture syndrome 4; LCCS4|MYBPC1 lethal congenital contracture syndrome|lethal congenital contracture syndrome 4|lethal congenital contracture syndrome caused by mutation in MYBPC1|lethal congenital contracture syndrome type 4 gard_rare MONDO:0011302 type 1 diabetes mellitus 17 biolink:Disease mondo OMIM:603266|DOID:0110754|MESH:C566395|UMLS:C1864068|ICD10:E10 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25. DOID:0110754|UMLS:C1864068|http://identifiers.org/omim/603266|MESH:C566395 http://purl.obolibrary.org/obo/MONDO_0011302 diabetes mellitus, insulin-dependent, 17|IDDM17|insulin-dependent diabetes mellitus 17|diabetes mellitus, insulin-dependent, 17; IDDM17 HP:0000741 Apathy biolink:PhenotypicFeature mondo UMLS:C0085632|MSH:D057565|SNOMEDCT_US:20602000 http://purl.obolibrary.org/obo/HP_0000741 Lack of feeling, emotion, interest MONDO:0011301 pseudohypoparathyroidism type 1B biolink:Disease mondo Orphanet:94089|GARD:0010680|UMLS:C2932715|ICD10:E20.1|MESH:C548075|OMIM:603233|DOID:0080222 Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. ORPHA:94089|UMLS:C2932715|http://identifiers.org/omim/603233|DOID:0080222|MESH:C548075 http://purl.obolibrary.org/obo/MONDO_0011301 pseudohypoparathyroidism, type 1B|PHP1B|pseudohypoparathyroidism type IB|pseudohypoparathyroidism, type IB; PHP1B|Php 1B|pseudohypoparathyroidism, type IB ordo_disease|gard_rare MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 biolink:Disease mondo ICD10:I47.2|DOID:0060678|UMLS:C3554047|OMIM:614916 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene. DOID:0060678|http://identifiers.org/omim/614916|UMLS:C3554047 http://purl.obolibrary.org/obo/MONDO_0013966 ventricular tachycardia, catecholaminergic polymorphic, 4; CPVT4|CPVT4|CALM1 catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic, 4|catecholaminergic polymorphic ventricular tachycardia type 4|ventricular tachycardia, catecholaminergic polymorphic, type 4|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1|CVPT4 MONDO:0013963 autosomal recessive nonsyndromic deafness 93 biolink:Disease mondo OMIM:614899|ICD10:H90.3|DOID:0110537 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene. http://identifiers.org/omim/614899|DOID:0110537 http://purl.obolibrary.org/obo/MONDO_0013963 deafness, autosomal recessive 93|autosomal recessive deafness 93|autosomal recessive nonsyndromic deafness caused by mutation in CABP2|DFNB93|deafness, autosomal recessive 93; DFNB93|autosomal recessive nonsyndromic deafness type 93|deafness, autosomal recessive type 93|CABP2 autosomal recessive nonsyndromic deafness MONDO:0011304 cerebral cavernous malformation 2 biolink:Disease mondo ICD10:Q28.3|DOID:0060670|MESH:C566394|UMLS:C1864041|OMIM:603284 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene. DOID:0060670|http://identifiers.org/omim/603284|UMLS:C1864041|MESH:C566394 http://purl.obolibrary.org/obo/MONDO_0011304 CCM2 familial cerebral cavernous malformation|cerebral cavernous malformations 2|cerebral cavernous malformations 2; CCM2|cerebral cavernous malformation type 2|familial cerebral cavernous malformation caused by mutation in CCM2|cerebral cavernous malformations type 2|CCM2 HGNC:10588 SCN2A biolink:OntologyClass mondo http://identifiers.org/hgnc/10588 MONDO:0011303 focal segmental glomerulosclerosis 1 biolink:Disease mondo MESH:C538457|DOID:0111128|OMIM:603278|ICD10:N04.1|Orphanet:93213 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene. http://identifiers.org/omim/603278|ORPHA:93213|MESH:C538457|DOID:0111128 http://purl.obolibrary.org/obo/MONDO_0011303 focal segmental glomerulosclerosis caused by mutation in ACTN4|FSGS1|glomerulosclerosis, focal segmental, 1|focal segmental glomerulosclerosis 1|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis|focal segmental glomerulosclerosis 1; FSGS1|ACTN4 focal segmental glomerulosclerosis|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis|focal segmental glomerulosclerosis type 1 ordo_histopathological_subtype MONDO:0013964 Diamond-Blackfan anemia 11 biolink:Disease mondo UMLS:C3554042|OMIM:614900 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene. http://identifiers.org/omim/614900|UMLS:C3554042 http://purl.obolibrary.org/obo/MONDO_0013964 Diamond-Blackfan anemia caused by mutation in RPL26|Diamond-Blackfan Anemia type 11|Diamond-Blackfan anemia 11|Diamond-Blackfan anemia 11; DBA11|RPL26 Diamond-Blackfan anemia|DBA11 HGNC:10589 SCN2B biolink:OntologyClass mondo http://identifiers.org/hgnc/10589 MONDO:0001989 atrophic glossitis biolink:Disease mondo COHD:439060|UMLS:C0155964|ICD9:529.4|SCTID:9491003|ICD10:K14.4|DOID:1453 UMLS:C0155964|DOID:1453|SNOMEDCT:9491003 http://purl.obolibrary.org/obo/MONDO_0001989 Hunter's glossitis|glossitis, Hunter's|smooth atrophic tongue|atrophy of tongue papillae MONDO:0001988 external pathological resorption biolink:Disease mondo ICD9:521.42|ICD10:K03.3|DOID:14529|UMLS:C0266878|SCTID:41918006 UMLS:C0266878|SNOMEDCT:41918006|DOID:14529 http://purl.obolibrary.org/obo/MONDO_0001988 HGNC:10582 SCN10A biolink:OntologyClass mondo http://identifiers.org/hgnc/10582 HGNC:10583 SCN11A biolink:OntologyClass mondo http://identifiers.org/hgnc/10583 HP:0012718 Morphological abnormality of the gastrointestinal tract biolink:PhenotypicFeature mondo UMLS:C4021073 Abnormal structure of the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0012718 Morphological anomaly of the digestive system|Abnormal shape of the digestive system|Morphological abnormality of the GI tract HP:0012719 Functional abnormality of the gastrointestinal tract biolink:PhenotypicFeature mondo UMLS:C4022755 Abnormal functionality of the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the GI tract|GI dysfunction HGNC:10548 ATXN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10548 HGNC:10549 ATXN10 biolink:OntologyClass mondo http://identifiers.org/hgnc/10549 HP:0012780 Neoplasm of the ear biolink:PhenotypicFeature mondo NCIT:C3262|MSH:D004428|UMLS:C0013449|SNOMEDCT_US:363228008 A tumor (abnormal growth of tissue) of the ear. http://purl.obolibrary.org/obo/HP_0012780 Ear tumor MONDO:0011375 brittle bone disorder biolink:Disease mondo UMLS:C1859069|OMIM:603828|MESH:C565842 MESH:C565842|UMLS:C1859069|http://identifiers.org/omim/603828 http://purl.obolibrary.org/obo/MONDO_0011375 brittle bone disorder MONDO:0011374 hypercholesterolemia, familial, 4 biolink:Disease mondo NCIT:C128114|UMLS:C1863512|OMIM:603813|ICD10:E78.0|MESH:C566331|DOID:0090105 An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia. DOID:0090105|http://identifiers.org/omim/603813|UMLS:C1863512|MESH:C566331|NCIT:C128114 http://purl.obolibrary.org/obo/MONDO_0011374 autosomal recessive hypercholesterolemia 2|FHCB1|autosomal recessive hypercholesterolemia 1|hypercholesterolemia, autosomal recessive; ARH|familial autosomal recessive hypercholesterolemia|hypercholesterolemia, autosomal recessive, 2, formerly|hypercholesterolemia, autosomal recessive, 1, formerly|hypercholesterolemia, autosomal recessive|hypercholesterolemia, autosomal recessive, 2|hypercholesterolemia, autosomal recessive, 1|ARH|FHCB2, formerly|FHCB1, formerly|ARH2|ARH1|FHCB2 MONDO:0011377 long QT syndrome 3 biolink:Disease mondo ICD10:I45.8|OMIM:603830|MESH:C565840|DOID:0110646|NCIT:C137959|UMLS:C1859062|GARD:0003286|UMLS:C2931401 An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. MESH:C565840|DOID:0110646|UMLS:C2931401|UMLS:C1859062|http://identifiers.org/omim/603830|NCIT:C137959 http://purl.obolibrary.org/obo/MONDO_0011377 long QT syndrome 3; LQT3|long QT syndrome type 3|SCN5A long QT syndrome|long QT syndrome caused by mutation in SCN5A|long QT syndrome 2/3, digenic|LQT3|long QT syndrome 3, acquired, susceptibility to|long QT syndrome 3/6, digenic|long QT syndrome 3 gard_rare MONDO:0011376 idiopathic ventricular fibrillation, non Brugada type biolink:Disease mondo ICD10:I49.0|MESH:C567851|OMIM:603829|GARD:0004227|UMLS:C2751898|SCTID:233915000|Orphanet:228140 MESH:C567851|SNOMEDCT:233915000|UMLS:C2751898|ORPHA:228140|http://identifiers.org/omim/603829 http://purl.obolibrary.org/obo/MONDO_0011376 VF1|ventricular fibrillation, paroxysmal familial|ventricular fibrillation, paroxysmal familial, 1|ventricular fibrillation, paroxysmal familial, type 1|paroxysmal familial ventricular fibrillation|familial paroxysmal ventricular fibrillation, non Brugada type|Ivf|idiopathic ventricular fibrillation|ventricular fibrillation during myocardial infarction, susceptibility to|ventricular fibrillation, paroxysmal familial, 1; VF1|paroxysmal ventricular fibrillation|IVF ordo_disease MONDO:0011379 medullary cystic kidney disease 2 biolink:Disease mondo NCIT:C123172|OMIM:603860|SCTID:445503007|EFO:0008618|UMLS:C4054550 An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. SNOMEDCT:445503007|UMLS:C4054550|http://identifiers.org/omim/603860|NCIT:C123172 http://purl.obolibrary.org/obo/MONDO_0011379 medullary cystic kidney disease 2; MCKD2|medullary cystic kidney disease 2, autosomal dominant|medullary cystic kidney disease type II|medullary cystic kidney disease type 2|MCKD2|medullary cystic kidney disease 2 MONDO:0011378 obsolete CFM1 biolink:Disease mondo OMIM:603855 http://identifiers.org/omim/603855 http://purl.obolibrary.org/obo/MONDO_0011378 cystic fibrosis, modifier of, 1|meconium ileus in cystic fibrosis, susceptibility to|CFM1|cystic fibrosis, modifier of, 1; CFM1 HGNC:10555 ATXN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10555 UBERON_CORE:protects protects biolink:OntologyClass mondo http://purl.obolibrary.org/obo/uberon/core#protects HP:0009125 Lipodystrophy biolink:PhenotypicFeature mondo MSH:D008060|UMLS:C0023787|SNOMEDCT_US:71325002 Degenerative changes of the fat tissue. http://purl.obolibrary.org/obo/HP_0009125 Inability to make and keep healthy fat tissue MONDO:0011371 hydroa vacciniforme, familial biolink:Disease mondo GARD:0010079|UMLS:C1863533|OMIM:603794|MESH:C536077 An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome. http://identifiers.org/omim/603794|UMLS:C1863533|MESH:C536077 http://purl.obolibrary.org/obo/MONDO_0011371 familial hydroa vacciniforme|hydroa vacciniforme, familial|hereditary hydroa vacciniforme gard_rare HP:0009122 Aplasia/hypoplasia affecting bones of the axial skeleton biolink:PhenotypicFeature mondo UMLS:C4024585 Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. http://purl.obolibrary.org/obo/HP_0009122 MONDO:0011370 Stargardt disease 4 biolink:Disease mondo OMIM:603786|MESH:C535521|UMLS:C1863534 Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene. MESH:C535521|http://identifiers.org/omim/603786|UMLS:C1863534 http://purl.obolibrary.org/obo/MONDO_0011370 Stargardt disease 4|Stargardt disease type 4|STGD4|Stargardt disease caused by mutation in PROM1|Stargardt disease 4; STGD4|PROM1 Stargardt disease HP:0009121 Abnormal axial skeleton morphology biolink:PhenotypicFeature mondo UMLS:C4020785|UMLS:C4024586 An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. http://purl.obolibrary.org/obo/HP_0009121 Abnormality of the axial skeleton HP:0009124 Abnormal adipose tissue morphology biolink:PhenotypicFeature mondo UMLS:C4021524 An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. http://purl.obolibrary.org/obo/HP_0009124 Abnormality of fat tissue|Abnormality of adipose tissue|Abnormality of fatty tissue HP:0000790 Hematuria biolink:PhenotypicFeature mondo UMLS:C0018965|SNOMEDCT_US:53298000|SNOMEDCT_US:34436003|MSH:D006417 The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). http://purl.obolibrary.org/obo/HP_0000790 Blood in urine|High urine occult blood MONDO:0011373 urinary tract infections, recurrent, susceptibility to biolink:Disease mondo OMIM:603806 http://identifiers.org/omim/603806 http://purl.obolibrary.org/obo/MONDO_0011373 urinary tract infections, recurrent, susceptibility to predisposition MONDO:0011372 microcephaly with simplified gyral pattern biolink:Disease mondo MESH:C566332|UMLS:C1863516|OMIM:603802 http://identifiers.org/omim/603802|UMLS:C1863516|MESH:C566332 http://purl.obolibrary.org/obo/MONDO_0011372 microcephaly with simplified gyral pattern MONDO:0011364 autosomal recessive nonsyndromic deafness 16 biolink:Disease mondo ICD10:H90.3|OMIM:603720|UMLS:C1863561|MESH:C566339|DOID:0110471 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene. MESH:C566339|DOID:0110471|http://identifiers.org/omim/603720|UMLS:C1863561 http://purl.obolibrary.org/obo/MONDO_0011364 autosomal recessive nonsyndromic deafness type 16|autosomal recessive deafness 16|deafness, autosomal recessive 16; DFNB16|autosomal recessive nonsyndromic deafness caused by mutation in STRC|deafness, autosomal recessive type 16|STRC autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 16|DFNB16 clingen MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 biolink:Disease mondo MESH:C566342|UMLS:C1863594|OMIM:603694 MESH:C566342|http://identifiers.org/omim/603694|UMLS:C1863594 http://purl.obolibrary.org/obo/MONDO_0011363 diabetes mellitus, noninsulin-dependent, 3|noninsulin-dependent diabetes mellitus 3|diabetes mellitus, noninsulin-dependent, type 3|NIDDM3 MONDO:0011366 ovarian germ cell tumor biolink:Disease mondo GARD:0009330|ICD9:239.5|DOID:2156|SCTID:237059008|EFO:1000419|UMLS:C0238324|OMIM:603737|NCIT:C3873|ONCOTREE:OGCT A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma. DOID:2156|SNOMEDCT:237059008|http://identifiers.org/omim/603737|UMLS:C0238324|NCIT:C3873 http://purl.obolibrary.org/obo/MONDO_0011366 germ cell neoplasm of the ovary|germ cell neoplasm of ovary|ovary germ cell tumor|ovarian germ cell cancer|ovarian germ cell tumor|germ cell tumor of the ovary|ovarian germ cell neoplasm|germ cell tumor of ovary MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type biolink:Disease mondo OMIM:603736|MESH:C536717|Orphanet:3047|ICD10:Q87.8|ICD9:759.89|SCTID:699298009|DOID:0060290 Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested. MESH:C536717|DOID:0060290|http://identifiers.org/omim/603736|ORPHA:3047|SNOMEDCT:699298009 http://purl.obolibrary.org/obo/MONDO_0011365 SBBYSS|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome|Young-Simpson syndrome|Ohdo syndrome, SBBYS variant; SBBYSS|Ohdo syndrome, SBBYS variant|Say-Barber-Biesecker-Young-Simpson syndrome|Ohdo syndrome, SBBYS variant ordo_malformation_syndrome MONDO:0011368 papillary thyroid Microcarcinoma biolink:Disease mondo NCIT:C46004|MESH:C563277|OMIM:603744|UMLS:C1709457|ICDO:8341/3 A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population. NCIT:C46004|MESH:C563277|http://identifiers.org/omim/603744|UMLS:C1709457 http://purl.obolibrary.org/obo/MONDO_0011368 papillary Microcarcinoma of the thyroid gland|papillary Microcarcinoma of the thyroid|papillary thyroid Microcarcinoma|thyroid gland papillary Microcarcinoma|papillary thyroid gland Microcarcinoma MONDO:0011367 Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia biolink:Disease mondo MESH:C538181|UMLS:C1863556|GARD:0010076|OMIM:603740 A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally. http://identifiers.org/omim/603740|UMLS:C1863556|MESH:C538181 http://purl.obolibrary.org/obo/MONDO_0011367 acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia|acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia gard_rare MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 biolink:Disease mondo MESH:C566337|OMIM:603776|UMLS:C1863551 Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene. MESH:C566337|http://identifiers.org/omim/603776|UMLS:C1863551 http://purl.obolibrary.org/obo/MONDO_0011369 HCHOLA3|hypercholesterolemia, autosomal dominant, 3|PCSK9 familial hypercholesterolemia|hypercholesterolemia, autosomal dominant, type 3|familial hypercholesterolemia caused by mutation in PCSK9|hypercholesterolemia, autosomal dominant, 3; HCHOLA3|Fh3|low density lipoprotein cholesterol level quantitative trait locus 1 clingen ENVO:01000060 particulate matter biolink:OntologyClass mondo Particulate material is an environmental material which is composed of microscopic portions of solid or liquid material suspended in another environmental material. http://purl.obolibrary.org/obo/ENVO_01000060 MONDO:0011360 autosomal recessive nonsyndromic deafness 14 biolink:Disease mondo MESH:C566344|DOID:0110469|UMLS:C1863613|OMIM:603678|ICD10:H90.3 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31. DOID:0110469|http://identifiers.org/omim/603678|UMLS:C1863613|MESH:C566344 http://purl.obolibrary.org/obo/MONDO_0011360 DFNB14|deafness, autosomal recessive 14; DFNB14|autosomal recessive nonsyndromic deafness type 14|autosomal recessive deafness 14|deafness, autosomal recessive 14 HGNC:10560 ATXN7 biolink:OntologyClass mondo http://identifiers.org/hgnc/10560 HGNC:10561 ATXN8OS biolink:OntologyClass mondo http://identifiers.org/hgnc/10561 MONDO:0011362 hereditary proximal myopathy with early respiratory failure biolink:Disease mondo SCTID:733490006|SCTID:702373006|MESH:C566343|UMLS:C4518808|GARD:0012591|ICD10:G71.0|Orphanet:178464|OMIM:603689|Orphanet:34521|UMLS:C1863599|UMLS:C1843633|OMIM:607569|MESH:C564377 MESH:C566343|SNOMEDCT:733490006|http://identifiers.org/omim/607569|UMLS:C1843633|MESH:C564377|http://identifiers.org/omim/603689|ORPHA:34521|UMLS:C1863599|UMLS:C4518808|SNOMEDCT:702373006|ORPHA:178464 http://purl.obolibrary.org/obo/MONDO_0011362 myofibrillar myopathy with early respiratory failure|HMERF|Edstrom myopathy|myopathy, distal, with early respiratory failure, autosomal dominant|ADMERF|hereditary inclusion body myopathy with early respiratory failure|HIBM-ERF|Edström myopathy|HMERF-ERF|distal myopathy with early respiratory muscle involvement|myopathy, proximal, with early respiratory muscle involvement gard_rare|ordo_disease MONDO:0011361 prostate cancer/brain cancer susceptibility biolink:Disease mondo OMIM:603688 http://identifiers.org/omim/603688 http://purl.obolibrary.org/obo/MONDO_0011361 Pcbc|prostate cancer/brain cancer susceptibility|Capb predisposition MONDO:0011349 osteoma of cranial vault, familial biolink:Disease mondo OMIM:603600|MESH:C566356|UMLS:C1863677 http://identifiers.org/omim/603600|UMLS:C1863677|MESH:C566356 http://purl.obolibrary.org/obo/MONDO_0011349 osteoma of cranial vault, familial HP:0000777 Abnormality of the thymus biolink:PhenotypicFeature mondo UMLS:C0262650|UMLS:C0685891|SNOMEDCT_US:93297002 Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. http://purl.obolibrary.org/obo/HP_0000777 Abnormality of the thymus MONDO:0037937 pyrimidine metabolism disease biolink:Disease mondo UMLS:C0268127|SCTID:85444005 A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process. UMLS:C0268127|SNOMEDCT:85444005 http://purl.obolibrary.org/obo/MONDO_0037937 disorder of pyrimidine metabolism|disorder of pyrimidine nucleobase metabolic process|disorder of pyrimidine nucleobase metabolic process|pyrimidine nucleobase metabolic process disease MONDO:0037938 inborn disorder of aspartate family metabolism biolink:Disease mondo An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process. http://purl.obolibrary.org/obo/MONDO_0037938 inborn aspartate family amino acid metabolic process disorder|rare inborn error of aspartate family amino acid metabolic process|inborn error of aspartate family amino acid metabolic process|rare inborn error of aspartate family amino acid metabolic process HGNC:10526 SALL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10526 MONDO:0037939 porphyria biolink:Disease mondo SCTID:418470004 Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS. SNOMEDCT:418470004 http://purl.obolibrary.org/obo/MONDO_0037939 porphyria MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects biolink:Disease mondo UMLS:C1863648|OMIM:603642|MESH:C566351 MESH:C566351|http://identifiers.org/omim/603642|UMLS:C1863648 http://purl.obolibrary.org/obo/MONDO_0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects MONDO:0037940 inherited auditory system disease biolink:Disease mondo SCTID:362991006|UMLS:C1285174 An instance of auditory system disease that is caused by an inherited modification of the individual's genome. UMLS:C1285174|SNOMEDCT:362991006 http://purl.obolibrary.org/obo/MONDO_0037940 hereditary auditory system disease|auditory system hereditary disorder MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia biolink:Disease mondo UMLS:C1863649|OMIM:603641|MESH:C566352 MESH:C566352|http://identifiers.org/omim/603641|UMLS:C1863649 http://purl.obolibrary.org/obo/MONDO_0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia MONDO:0011355 cone-rod dystrophy 7 biolink:Disease mondo OMIM:603649|MESH:C566350|UMLS:C1863634|DOID:0111012 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene. MESH:C566350|DOID:0111012|http://identifiers.org/omim/603649|UMLS:C1863634 http://purl.obolibrary.org/obo/MONDO_0011355 cone-rod dystrophy 7|RIMS1 cone-rod dystrophy|cone-rod dystrophy type 7|CORD7|cone-rod dystrophy caused by mutation in RIMS1|cone-rod dystrophy 7; CORD7 MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas biolink:Disease mondo UMLS:C1863647|MESH:C536666|OMIM:603643|GARD:0008567 MESH:C536666|http://identifiers.org/omim/603643|UMLS:C1863647 http://purl.obolibrary.org/obo/MONDO_0011354 situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios|situs inversus totalis with cystic dysplasia of kidneys and pancreas gard_rare MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities biolink:Disease mondo OMIM:603669|MESH:C566347|UMLS:C1863618 UMLS:C1863618|MESH:C566347|http://identifiers.org/omim/603669 http://purl.obolibrary.org/obo/MONDO_0011357 eccrine syringofibroadenomatosis with eyelid abnormalities HP:0000774 Narrow chest biolink:PhenotypicFeature mondo UMLS:C0426790|SNOMEDCT_US:249671009 Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. http://purl.obolibrary.org/obo/HP_0000774 Reduced anterior-posterior chest diameter|Low chest circumference|Narrow shoulders|Narrow thorax|Narrow chest HGNC:10535 SAR1B biolink:OntologyClass mondo http://identifiers.org/hgnc/10535 MONDO:0011356 exostosis, Dupuytren subungual biolink:Disease mondo MESH:C535723|OMIM:603656|GARD:0008280|UMLS:C1863622 UMLS:C1863622|MESH:C535723|http://identifiers.org/omim/603656 http://purl.obolibrary.org/obo/MONDO_0011356 Dupuytren subungual exostosis|subungual exostoses|exostosis, Dupuytren subungual gard_rare HGNC:10536 SARDH biolink:OntologyClass mondo http://identifiers.org/hgnc/10536 MONDO:0011359 acromelic frontonasal dysostosis biolink:Disease mondo UMLS:C1863616|ICD10:Q75.8|MESH:C566345|OMIM:603671|DOID:0060342|GARD:0005539|Orphanet:1827|SCTID:715427008|GARD:0002393 Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. SNOMEDCT:715427008|UMLS:C0796182|UMLS:C1863616|MESH:C566345|ORPHA:1827|MESH:C535657|DOID:0060342|http://identifiers.org/omim/603671 http://purl.obolibrary.org/obo/MONDO_0011359 acromelic frontonasal dysplasia|AFND|acromelic frontonasal dysostosis|AFND|acromelic frontonasal dysostosis; AFND|frontonasal dysplasia acromelic|Toriello syndrome gard_rare|ordo_malformation_syndrome MONDO:0011358 blue nevi, familial multiple biolink:Disease mondo MESH:C566346|UMLS:C1863617|OMIM:603670 UMLS:C1863617|MESH:C566346|http://identifiers.org/omim/603670 http://purl.obolibrary.org/obo/MONDO_0011358 blue nevi, familial multiple MONDO:0011351 autosomal recessive nonsyndromic deafness 21 biolink:Disease mondo ICD10:H90.3|DOID:0110479|MESH:C566353|OMIM:603629|UMLS:C1863655 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. MESH:C566353|DOID:0110479|http://identifiers.org/omim/603629|UMLS:C1863655 http://purl.obolibrary.org/obo/MONDO_0011351 autosomal recessive nonsyndromic deafness caused by mutation in tecta|autosomal recessive deafness 21|DFNB21|deafness, autosomal recessive type 21|deafness, autosomal recessive 21; DFNB21|deafness, autosomal recessive 21|TECTA autosomal recessive nonsyndromic deafness|tecta autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in TECTA|autosomal recessive nonsyndromic deafness type 21 MONDO:0011350 autosomal dominant nonsyndromic deafness 17 biolink:Disease mondo ICD10:H90.3|DOID:0110548|GARD:0009726|OMIM:603622 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene. DOID:0110548|http://identifiers.org/omim/603622 http://purl.obolibrary.org/obo/MONDO_0011350 DFNA17|deafness, autosomal dominant type 17|autosomal dominant nonsyndromic deafness type 17|nonsyndromic hereditary deafness DFNA17|MYH9 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 17; DFNA17|autosomal dominant deafness 17|late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration|autosomal dominant nonsyndromic deafness caused by mutation in MYH9|Cochleosaccular Degeneration|deafness, autosomal dominant 17|deafness, autosomal dominant nonsyndromic sensorineural 17 MONDO:0011339 hereditary spastic paraplegia 8 biolink:Disease mondo MESH:C580458|ICD10:G11.4|Orphanet:100989|UMLS:C1863704|OMIM:603563|DOID:0110823|GARD:0009591 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene. http://identifiers.org/omim/603563|UMLS:C1863704|ORPHA:100989|MESH:C536867|MESH:C580458|DOID:0110823 http://purl.obolibrary.org/obo/MONDO_0011339 hereditary spastic paraplegia type 8|autosomal dominant spastic paraplegia 8|spastic paraplegia 8|spastic paraplegia 8, autosomal dominant; SPG8|SPG8|spastic paraplegia 8, autosomal dominant|hereditary spastic paraplegia caused by mutation in WASHC5|WASHC5 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 8 ordo_disease HP:0000789 Infertility biolink:PhenotypicFeature mondo UMLS:C0021359|SNOMEDCT_US:15296000|MSH:D007246|SNOMEDCT_US:8619003 http://purl.obolibrary.org/obo/HP_0000789 Infertility MONDO:0011338 Omenn syndrome biolink:Disease mondo SCTID:722067005|ICD10:D81.8|NCIT:C61240|GARD:0008198|OMIM:603554|UMLS:C1801959|MedDRA:10069097|DOID:0060010|Orphanet:39041 Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID). http://identifiers.org/omim/603554|ORPHA:39041|NCIT:C61240|UMLS:C1801959|DOID:0060010|MEDDRA:10069097|SNOMEDCT:722067005 http://purl.obolibrary.org/obo/MONDO_0011338 Omenn syndrome|reticuloendotheliosis, familial, with eosinophilia|reticuloendotheliosis familial with eosinophilia|combined immunodeficiency with hypereosinophilia|severe combined immunodeficiency with hypereosinophilia ordo_disease|gard_rare MONDO:0011342 SLC35A1-CDG biolink:Disease mondo GARD:0012409|ICD10:E77.8|DOID:0070258|OMIM:603585|UMLS:C1970344|Orphanet:238459|SCTID:723624008|MESH:C567040 SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. MESH:C567040|SNOMEDCT:723624008|ORPHA:238459|http://identifiers.org/omim/603585|DOID:0070258|UMLS:C1970344 http://purl.obolibrary.org/obo/MONDO_0011342 congenital disorder of glycosylation, type IIf|congenital disorder of glycosylation type IIf|CDG syndrome type IIf|congenital disorder of glycosylation, type IIf; CDG2F|congenital disorder of glycosylation type 2f|CDG-IIf|carbohydrate deficient glycoprotein syndrome type IIf|CDG2F|CDG IIf|SLC35A1-CDG (CDG-IIf)|CMP-sialic acid transporter deficiency ordo_disease HGNC:10542 SBF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10542 MONDO:0011341 microcephaly, facial abnormalities, micromelia, and mental retardation biolink:Disease mondo UMLS:C1863702|OMIM:603572|MESH:C566361 UMLS:C1863702|MESH:C566361|http://identifiers.org/omim/603572 http://purl.obolibrary.org/obo/MONDO_0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability|microcephaly, facial abnormalities, micromelia, and mental retardation MONDO:0011344 parotitis, juvenile recurrent biolink:Disease mondo UMLS:C1863691|MESH:C566359|OMIM:603588 UMLS:C1863691|MESH:C566359|http://identifiers.org/omim/603588 http://purl.obolibrary.org/obo/MONDO_0011344 parotitis, juvenile recurrent HGNC:10540 SAT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10540 MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts biolink:Disease mondo UMLS:C1863692|OMIM:603587|MESH:C566360 UMLS:C1863692|MESH:C566360|http://identifiers.org/omim/603587 http://purl.obolibrary.org/obo/MONDO_0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts MONDO:0011346 xanthinuria type II biolink:Disease mondo UMLS:C1863688|MESH:C566358|ICD10:E79.8|OMIM:603592|GARD:0005620|Orphanet:93602 Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. ORPHA:93602|UMLS:C1863688|MESH:C566358|http://identifiers.org/omim/603592 http://purl.obolibrary.org/obo/MONDO_0011346 type II xanthinuria|xanthinuria type 2|xanthinuria, type 2|xanthine dehydrogenase and aldehyde oxidase combined deficiency of|XDH and AOX dual deficiency|xanthinuria, type II; XAN2|xanthinuria, type II|XAN2|type 2 xanthinuria|xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|xanthine dehydrogenase and aldehyde oxidase, combined deficiency of ordo_etiological_subtype|gard_rare MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification biolink:Disease mondo MESH:C567039|OMIM:603589|UMLS:C1970343 UMLS:C1970343|MESH:C567039|http://identifiers.org/omim/603589 http://purl.obolibrary.org/obo/MONDO_0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification HP:0009118 Aplasia/Hypoplasia of the mandible biolink:PhenotypicFeature mondo UMLS:C4280401|UMLS:C3494426|UMLS:C4024589|UMLS:C4280261|MSH:D063173|UMLS:C4021371 Absence or underdevelopment of the mandible. http://purl.obolibrary.org/obo/HP_0009118 HGNC:10547 SC5D biolink:OntologyClass mondo http://identifiers.org/hgnc/10547 MONDO:0011348 non-syndromic polydactyly biolink:Disease mondo ICD10:Q69.9|Orphanet:2913|MedDRA:10036063|GARD:0004410|ICD10:Q69.2|ICD10:Q69.1|ICD10:Q69.0 A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. MESH:D017689|UMLS:C0152427|MEDDRA:10036063|ORPHA:2913 http://purl.obolibrary.org/obo/MONDO_0011348 isolated polydactyly|supernumerary digits|Extra digits|nonsyndromic polydactyly (disease)|polydactylia|nonsyndromic polydactyly|isolated polydactyly (disease) ordo_group_of_disorders CHEBI:66956 antidyskinesia agent biolink:ChemicalSubstance mondo Any compound which can be used to treat or alleviate the symptoms of dyskinesia. http://purl.obolibrary.org/obo/CHEBI_66956 antidyskinesia drugs|antidyskinesia drug|antidyskinesia agents|antidyskinetic drug|antidyskinetic agent|antidyskinetic agents|antidyskinetic drugs MONDO:0011347 craniosynostosis with ectopia lentis biolink:Disease mondo UMLS:C1863678|MESH:C566357|OMIM:603595 UMLS:C1863678|MESH:C566357|http://identifiers.org/omim/603595 http://purl.obolibrary.org/obo/MONDO_0011347 craniosynostosis with ectopia lentis HGNC:10545 MSMO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10545 HP:0009115 Aplasia/hypoplasia involving the skeleton biolink:PhenotypicFeature mondo UMLS:C4024592 Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. http://purl.obolibrary.org/obo/HP_0009115 Absent/small skeleton|Absent/underdeveloped skeleton HP:0012757 Abnormal neuron morphology biolink:PhenotypicFeature mondo UMLS:C4022739 A structural anomaly of a neuron. http://purl.obolibrary.org/obo/HP_0012757 Abnormal neuron shape|Abnormal neuronal morphology HP:0012758 Neurodevelopmental delay biolink:PhenotypicFeature mondo UMLS:C4022738 http://purl.obolibrary.org/obo/HP_0012758 HP:0009116 Aplasia/Hypoplasia involving bones of the skull biolink:PhenotypicFeature mondo UMLS:C4024591 http://purl.obolibrary.org/obo/HP_0009116 HP:0012759 Neurodevelopmental abnormality biolink:PhenotypicFeature mondo UMLS:C4022737 A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. http://purl.obolibrary.org/obo/HP_0012759 MONDO:0011340 congenital tracheal stenosis biolink:Disease mondo GARD:0012008|ICD10:Q32.1|ICD9:748.3|Orphanet:141127|MESH:C566362|SCTID:9660004|OMIM:603569 SNOMEDCT:9660004|MESH:C566362|UMLS:C0265767|http://identifiers.org/omim/603569|ORPHA:141127 http://purl.obolibrary.org/obo/MONDO_0011340 tracheobronchial stenosis, congenital gard_rare|ordo_morphological_anomaly MONDO:0013909 HHV8S biolink:Disease mondo OMIM:614836 http://identifiers.org/omim/614836 http://purl.obolibrary.org/obo/MONDO_0013909 HHV8S|HUMAN HERPESVIRUS 8, susceptibility to|HHV-8, susceptibility to|HUMAN HERPESVIRUS 8, susceptibility to; HHV8S MONDO:0001921 chronic atticoantral disease biolink:Disease mondo UMLS:C0565831|COHD:260730|UMLS:C0155441|ICD10:H66.2|SCTID:267759006|ICD9:382.2|DOID:14248|ICD10:H66.20 A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. DOID:14248|SNOMEDCT:267759006|UMLS:C0565831|UMLS:C0155441 http://purl.obolibrary.org/obo/MONDO_0001921 chronic atticoantral suppurative otitis media MONDO:0001920 chronic purulent otitis media biolink:Disease mondo SCTID:38394007|ICD10:H66.3|ICD9:382.3|COHD:377886|UMLS:C0271454|NCIT:C128386|DOID:14247 Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. UMLS:C0271454|SNOMEDCT:38394007|NCIT:C128386|DOID:14247 http://purl.obolibrary.org/obo/MONDO_0001920 chronic suppurative otitis Media|suppurative otitis media, chronic|CSOM|chronic suppurative otitis media MONDO:0013903 NYS7 biolink:Disease mondo OMIM:614826|UMLS:C3553801 http://identifiers.org/omim/614826|UMLS:C3553801 http://purl.obolibrary.org/obo/MONDO_0013903 NYSTAGMUS 7, congenital, autosomal dominant; NYS7|NYS7|NYSTAGMUS 7, congenital, autosomal dominant MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 biolink:Disease mondo UMLS:C3553813|OMIM:614830 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene. http://identifiers.org/omim/614830|UMLS:C3553813 http://purl.obolibrary.org/obo/MONDO_0013904 MDDGA8|POMGNT2 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8; MDDGA8|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related MONDO:0013901 spermatogenic failure 10 biolink:Disease mondo OMIM:614822|DOID:0070178|UMLS:C3553793 Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene. http://identifiers.org/omim/614822|UMLS:C3553793|DOID:0070178 http://purl.obolibrary.org/obo/MONDO_0013901 SEPT12 azoospermia|SPGF10|spermatogenic failure with defective sperm annulus|spermatogenic failure type 10|azoospermia caused by mutation in SEPT12|spermatogenic failure 10|spermatogenic failure 10; SPGF10 CL:0000404 electrically signaling cell biolink:Cell mondo A cell that initiates an electrical signal and passes that signal to another cell. http://purl.obolibrary.org/obo/CL_0000404 MONDO:0013902 aortic valve disease 2 biolink:Disease mondo DOID:0080334|OMIM:614823|UMLS:C3542024 Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene. http://identifiers.org/omim/614823|DOID:0080334|UMLS:C3542024 http://purl.obolibrary.org/obo/MONDO_0013902 aortic valve stenosis|aortic valve disease type 2|AOVD2|aortic valve disease 2; AOVD2|bicuspid aortic valve|aortic valve disease 2|SMAD6 aortic valve disease|aortic valve disease caused by mutation in SMAD6 MONDO:0013907 bilateral generalized polymicrogyria biolink:Disease mondo GARD:0010786|Orphanet:208447|ICD10:Q04.3|OMIM:614833|UMLS:C3553831 Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person. http://identifiers.org/omim/614833|ORPHA:208447|UMLS:C3553831 http://purl.obolibrary.org/obo/MONDO_0013907 polymicrogyria with seizures|microcephaly, short stature, and polymicrogyria with or without seizures|bilateral generalised polymicrogyria|MSSP|microcephaly, short stature, and polymicrogyria with or without seizures; MSSP|polymicrogyria with seizures; PMGYS|PMGYS gard_rare|ordo_clinical_subtype MONDO:0013908 TTPP3 biolink:Disease mondo OMIM:614834 http://identifiers.org/omim/614834 http://purl.obolibrary.org/obo/MONDO_0013908 thyrotoxic periodic paralysis, susceptibility to, 3|TTPP3|thyrotoxic periodic paralysis, susceptibility to, 3; TTPP3 predisposition MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 biolink:Disease mondo ICD10:G11.1|UMLS:C3553816|OMIM:614831|Orphanet:324262|DOID:0080062 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain. http://identifiers.org/omim/614831|DOID:0080062|UMLS:C3553816|ORPHA:324262 http://purl.obolibrary.org/obo/MONDO_0013905 GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency|spinocerebellar ataxia, autosomal recessive 13|autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency|spinocerebellar ataxia, autosomal recessive 13; SCAR13|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive spinocerebellar ataxia type 13|spinocerebellar ataxia, autosomal recessive type 13|SCAR13 ordo_clinical_subtype CL:0000408 male gamete biolink:Cell mondo BTO:0001277|CALOHA:TS-0949 http://purl.obolibrary.org/obo/CL_0000408 MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 biolink:Disease mondo OMIM:614832|DOID:0110062|UMLS:C3553830|ICD10:K00.5 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene. http://identifiers.org/omim/614832|DOID:0110062|UMLS:C3553830 http://purl.obolibrary.org/obo/MONDO_0013906 amelogenesis imperfecta caused by mutation in ODAPH|AI2A4|amelogenesis imperfecta, hypomaturation type, IIA4; AI2A4|amelogenesis imperfecta hypomaturation type IIA4|amelogenesis imperfecta type IIA4|ODAPH amelogenesis imperfecta|amelogenesis imperfecta, hypomaturation type, IIA4 UBERON:0007135 neural keel biolink:AnatomicalEntity mondo An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. http://purl.obolibrary.org/obo/UBERON_0007135 presumptive central nervous system UBERON:0007134 trunk ganglion biolink:AnatomicalEntity mondo Ganglion which is located in the trunk. http://purl.obolibrary.org/obo/UBERON_0007134 trunk ganglia|body ganglion MONDO:0001919 cystoid macular retinal degeneration biolink:Disease mondo DOID:14245|ICD9:362.53|SCTID:14046000|UMLS:C0154850|COHD:376115|ICD10:H35.35 UMLS:C0154850|SNOMEDCT:14046000|DOID:14245 http://purl.obolibrary.org/obo/MONDO_0001919 cystoid macular degeneration of retina MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia biolink:Disease mondo DOID:0090074|UMLS:C3553841|ICD10:E23.0|OMIM:614837 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene. DOID:0090074|UMLS:C3553841|http://identifiers.org/omim/614837 http://purl.obolibrary.org/obo/MONDO_0013910 hypogonadotropic hypogonadism 8 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in KISS1R|hypogonadotropic hypogonadism 8 with or without anosmia; HH8|KISS1R hypogonadotropic hypogonadism|HH8 MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia biolink:Disease mondo DOID:0090085|ICD10:E23.0|OMIM:614838|UMLS:C3553842 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene. http://identifiers.org/omim/614838|DOID:0090085|UMLS:C3553842 http://purl.obolibrary.org/obo/MONDO_0013911 hypogonadotropic hypogonadism 9 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in NSMF|hypogonadotropic hypogonadism 9 with or without anosmia; HH9|HH9|NSMF hypogonadotropic hypogonadism MONDO:0001914 scleromalacia perforans biolink:Disease mondo ICD9:379.04|DOID:14230|ICD10:H15.05|SCTID:26664005|UMLS:C0155354 A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur. SNOMEDCT:26664005|DOID:14230|UMLS:C0155354 http://purl.obolibrary.org/obo/MONDO_0001914 MONDO:0001913 oligospermia biolink:Disease mondo ICD9:606.1|ICD10:N46.1|MESH:D009845|ICD10:N46.11|UMLS:C0028960|HP:0000798|DOID:14228 Decreased number of spermatozoa in the semen. UMLS:C0028960|MESH:D009845|DOID:14228|NCIT:C34860 http://purl.obolibrary.org/obo/MONDO_0001913 MONDO:0001912 acute frontal sinusitis biolink:Disease mondo ICD10:J01.10|ICD10:J01.1|ICD9:461.1|SCTID:91038008|UMLS:C0155805|COHD:139850|DOID:14225 Acute form of frontal sinusitis. DOID:14225|UMLS:C0155805|SNOMEDCT:91038008 http://purl.obolibrary.org/obo/MONDO_0001912 frontal sinusitis, acute CHEBI:15366 acetic acid biolink:ChemicalSubstance mondo A simple monocarboxylic acid containing two carbons. http://purl.obolibrary.org/obo/CHEBI_15366 acide acetique|E 260|CH3CO2H|MeCOOH|Methanecarboxylic acid|ethoic acid|AcOH|Ethanoic acid|MeCO2H|HOAc|Ethylic acid|INS No. 260|E260|Acetic acid|ACETIC ACID|acetic acid|CH3-COOH|Essigsaeure|E-260 MONDO:0001911 tracheal calcification biolink:Disease mondo UMLS:C0264324|ICD9:519.19|SCTID:81089005|HP:0002787|DOID:14224 Abnormal deposits of calcium in the tracheal tissue. SNOMEDCT:81089005|NCIT:C35314|DOID:14224|UMLS:C0264324 http://purl.obolibrary.org/obo/MONDO_0001911 calcification of trachea CHEBI:15365 acetylsalicylic acid biolink:ChemicalSubstance mondo A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity. http://purl.obolibrary.org/obo/CHEBI_15365 2-(acetyloxy)benzoic acid|Acetylsalicylic acid|2-Acetoxybenzenecarboxylic acid|ASA|Easprin|acidum acetylsalicylicum|2-(ACETYLOXY)BENZOIC ACID|Aspirin|acido acetilsalicilico|Acetylsalicylate|O-acetylsalicylic acid|o-carboxyphenyl acetate|salicylic acid acetate|Azetylsalizylsaeure|Acetylsalicylsaeure|2-acetoxybenzoic acid|acide acetylsalicylique|acide 2-(acetyloxy)benzoique|o-acetoxybenzoic acid MONDO:0001918 epiphora due to excess lacrimation biolink:Disease mondo ICD10:H04.21|DOID:14244|COHD:441855|ICD9:375.21|UMLS:C0155233|SCTID:31788005 DOID:14244|SNOMEDCT:31788005|UMLS:C0155233 http://purl.obolibrary.org/obo/MONDO_0001918 MONDO:0001917 chronic perichondritis of pinna biolink:Disease mondo UMLS:C0155391|DOID:14243|SCTID:45431004|ICD9:380.02 Chronic form of perichondritis of auricle. SNOMEDCT:45431004|DOID:14243|UMLS:C0155391 http://purl.obolibrary.org/obo/MONDO_0001917 perichondritis of auricle, chronic|chronic pinna perichondritis|chronic perichondritis of auricle MONDO:0001916 gastrointestinal tularemia biolink:Disease mondo ICD9:021.1|ICD9:021.8|ICD10:A21.3|DOID:14239 A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. DOID:14239 http://purl.obolibrary.org/obo/MONDO_0001916 enteric tularemia|intestinal tularaemia MONDO:0001915 orbital cyst biolink:Disease mondo HP:0001144|COHD:440418|SCTID:31021007|DOID:14233|ICD10:H05.81|UMLS:C0155285|ICD9:376.81 DOID:14233|UMLS:C0155285|SNOMEDCT:31021007 http://purl.obolibrary.org/obo/MONDO_0001915 orbit cyst MONDO:0001932 obsolete atrophic vulva biolink:Disease mondo ICD10:N90.5|COHD:438208|SCTID:248861000|ICD9:624.1|UMLS:C0156393|DOID:14275 DOID:14275|UMLS:C0156393|SNOMEDCT:248861000 http://purl.obolibrary.org/obo/MONDO_0001932 atrophic vulva|atrophic vulvitis|atrophy of vulva CHEBI:27369 zwitterion biolink:ChemicalSubstance mondo A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer). http://purl.obolibrary.org/obo/CHEBI_27369 zwitterionic compounds|zwitteriones|zwitterions|compuestos zwitterionicos|compose zwitterionique|zwitterion MONDO:0001931 pericholangitis biolink:Disease mondo DOID:14272|SCTID:111373008|UMLS:C0031052|NCIT:C34916 Inflammation of the tissue surrounding the biliary ducts. DOID:14272|NCIT:C34916|SNOMEDCT:111373008|UMLS:C0031052 http://purl.obolibrary.org/obo/MONDO_0001931 MONDO:0001930 acute cholangitis biolink:Disease mondo DOID:14271|SCTID:6215006|NCIT:C35334|UMLS:C0267917 Cholangitis that is both sudden in onset and of a relatively short duration. UMLS:C0267917|SNOMEDCT:6215006|DOID:14271|NCIT:C35334 http://purl.obolibrary.org/obo/MONDO_0001930 cholangitis, acute|acute cholangitis CL:0000413 haploid cell biolink:Cell mondo A cell whose nucleus contains a single haploid genome. http://purl.obolibrary.org/obo/CL_0000413 CL:0000417 endopolyploid cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000417 UBERON:0034763 hindbrain commissure biolink:AnatomicalEntity mondo Any commissure within the hindbrain. http://purl.obolibrary.org/obo/UBERON_0034763 UBERON:0034764 remnant of cardiac valve biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034764 vestigial cardiac valve HGNC:10519 SACS biolink:OntologyClass mondo http://identifiers.org/hgnc/10519 CHEBI:27363 zinc atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_27363 Zn2+|zincum|Zink|cinc|zinc|Zn(II)|Zn|zinc|30Zn UBERON:0007124 pharyngeal pouch 3 biolink:AnatomicalEntity mondo A pharyngeal pouch that between pharyngeal arches 3 and 4. http://purl.obolibrary.org/obo/UBERON_0007124 visceral pouch 3|third pharyngeal pouch|3rd pharyngeal pouch endoderm|pharyngeal pouches 3|third arch pharyngeal pouch|3rd branchial pouch|3rd arch branchial pouch endoderm|third visceral pouch|3rd arch branchial pouch HGNC:5433 IFNAR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5433 HGNC:10521 SAG biolink:OntologyClass mondo http://identifiers.org/hgnc/10521 UBERON:0007123 pharyngeal pouch 2 biolink:AnatomicalEntity mondo A pharyngeal puch that is between the pharyngeal arches 2 and 3. http://purl.obolibrary.org/obo/UBERON_0007123 second pharyngeal pouch|visceral pouch 2|2nd arch pouch endoderm|2nd pharyngeal pouch endoderm|2nd branchial pouch|2nd arch branchial pouch endoderm|pharyngeal pouches 2|second visceral pouch|second arch pharyngeal pouch|2nd arch branchial pouch UBERON:0007122 pharyngeal pouch 1 biolink:AnatomicalEntity mondo A pharyngeal pouch that is between pharyngeal arches 1 and 2. http://purl.obolibrary.org/obo/UBERON_0007122 visceral pouch 1|first visceral pouch|hyomandibular pouch|1st arch branchial pouch|pharyngeal pouches 1|1st arch pouch endoderm|1st pharyngeal pouch endoderm|1st arch branchial pouch endoderm|1st branchial pouch|first pharyngeal pouch|first arch pharyngeal pouch HGNC:10524 SALL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10524 MONDO:0013900 alternating hemiplegia of childhood 2 biolink:Disease mondo UMLS:C3553788|OMIM:614820 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene. http://identifiers.org/omim/614820|UMLS:C3553788 http://purl.obolibrary.org/obo/MONDO_0013900 alternating hemiplegia of childhood type 2|alternating hemiplegia of childhood 2|alternating hemiplegia of childhood 2; AHC2|AHC2|ATP1A3 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A3 HGNC:5438 IFNG biolink:OntologyClass mondo http://identifiers.org/hgnc/5438 HGNC:5439 IFNGR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5439 CL:0000412 polyploid cell biolink:Cell mondo A cell whose nucleus, or nuclei, each contain more than two haploid genomes. http://purl.obolibrary.org/obo/CL_0000412 MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses biolink:Disease mondo DOID:14253|ICD9:362.71 DOID:14253 http://purl.obolibrary.org/obo/MONDO_0001925 MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium biolink:Disease mondo ICD10:H35.54|DOID:14252|ICD9:362.76 DOID:14252 http://purl.obolibrary.org/obo/MONDO_0001924 MONDO:0001923 vitreoretinal dystrophy biolink:Disease mondo ICD9:362.73|ICD10:H35.51|DOID:14251|SCTID:79556007|COHD:373772|UMLS:C0154863 DOID:14251|SNOMEDCT:79556007|UMLS:C0154863 http://purl.obolibrary.org/obo/MONDO_0001923 vitreoretinal dystrophies MONDO:0001922 pyoureter biolink:Disease mondo DOID:1425|SCTID:85884009|NCIT:C35666|UMLS:C0034223|ICD9:593.89 An abscess that is located in the ureter. NCIT:C35666|UMLS:C0034223|DOID:1425|SNOMEDCT:85884009 http://purl.obolibrary.org/obo/MONDO_0001922 ureter abscess MONDO:0001929 ascending cholangitis biolink:Disease mondo NCIT:C35372|SCTID:26918003|DOID:14270|UMLS:C0311273|ICD10:K83.0 Acute infection of the bile ducts caused by bacteria ascending from the small intestine. NCIT:C35372|SNOMEDCT:26918003|DOID:14270|UMLS:C0311273 http://purl.obolibrary.org/obo/MONDO_0001929 ascending cholangitis MONDO:0001928 suppurative cholangitis biolink:Disease mondo UMLS:C0267924|ICD10:K83.0|NCIT:C35336|SCTID:69850007|DOID:14269 Cholangitis that is characterized by pyogenic organisms. NCIT:C35336|UMLS:C0267924|SNOMEDCT:69850007|DOID:14269 http://purl.obolibrary.org/obo/MONDO_0001928 suppurative cholangitis UBERON:0007128 glomeral mesenchyme biolink:AnatomicalEntity mondo Portion of tissue that consists of the precursors of the pronephric glomus or glomerulus; derived from the medial portion of the pronephric intermediate mesoderm. http://purl.obolibrary.org/obo/UBERON_0007128 glomerulus|corpuscle MONDO:0001927 pulmonary valve insufficiency biolink:Disease mondo DOID:14265|MESH:D011665|NCIT:C50848|SCTID:194995005 Dysfunction of the pulmonary valve characterized by incomplete valve closure. SNOMEDCT:194995005|DOID:14265|NCIT:C50848|MESH:D011665 http://purl.obolibrary.org/obo/MONDO_0001927 regurgitation, pulmonary|pulmonary regurg.|pulmonary incompetence|pulmonary valve regurgitation|pulmonary regurgitation|pulmonary insufficiency following trauma and surgery|pulmonic insufficiency|pulmonary incompetence, non-rheumatic|pulmonic valve regurgitation|pulmonic insufficiency NOS|pulmonary valvular regurgitation MONDO:0001926 ureteral disease biolink:Disease mondo DOID:1426|SCTID:128073008|MESH:D014515|NCIT:C27148|UMLS:C0403608|UMLS:C0041954 A non-neoplastic or neoplastic disorder affecting the ureter. MESH:D014515|SNOMEDCT:128073008|NCIT:C27148|UMLS:C0403608|UMLS:C0041954|DOID:1426 http://purl.obolibrary.org/obo/MONDO_0001926 ureter disease or disorder|ureter disorder|disorder of ureter|disorder of ureter|disease of ureter|disease or disorder of ureter|ureteric disease|ureter disease|ureteric disorder NCBITaxon:5600 Phialophora organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5600 Phialophora CHEBI:30985 4,4'-bipyridine biolink:ChemicalSubstance mondo A bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'. http://purl.obolibrary.org/obo/CHEBI_30985 4,4'-bipyridyl|gamma,gamma'-dipyridyl|4,4'-bipyridine|4,4'-bpy|gamma,gamma'-bipyridyl|4-(4-pyridyl)pyridine|4,4'-dipyridine|4,4-Bipyridin|4,4'-dipyridyl UBERON:0034770 bulbourethral gland epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034770 epithelium of bulbourethral gland|epithelium of bulbourethral gland of male NCBITaxon:27592 Bovinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_27592 NCBITaxon:197911 Alphainfluenzavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_197911 Influenzavirus A NCBITaxon:197912 Betainfluenzavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_197912 Influenzavirus B NCBITaxon:197913 Gammainfluenzavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_197913 Influenzavirus C UBERON:0010760 supraglenoid tubercle biolink:AnatomicalEntity mondo The supraglenoid tubercle is a region of the scapula to which the long head of the biceps brachii muscle attaches. http://purl.obolibrary.org/obo/UBERON_0010760 supraglenoid tuberosity|tuberculum supraglenoidale CHEBI:39317 growth regulator biolink:ChemicalSubstance mondo Any chemical substance that inhibits the life-cycle of an organism. http://purl.obolibrary.org/obo/CHEBI_39317 growth regulators GO:1904100 positive regulation of protein O-linked glycosylation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation. http://purl.obolibrary.org/obo/GO_1904100 up-regulation of protein amino acid O-linked glycosylation|up regulation of protein amino acid O-linked glycosylation|upregulation of protein O-linked glycosylation|activation of protein amino acid O-linked glycosylation|positive regulation of protein amino acid O-linked glycosylation|upregulation of protein amino acid O-linked glycosylation|up regulation of protein O-linked glycosylation|up-regulation of protein O-linked glycosylation|activation of protein O-linked glycosylation UBERON:0009778 pleural sac biolink:AnatomicalEntity mondo A serous sac that has the pleura and the pleural cavity as parts. http://purl.obolibrary.org/obo/UBERON_0009778 UBERON:0034768 morphological feature biolink:AnatomicalEntity mondo A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. http://purl.obolibrary.org/obo/UBERON_0034768 UBERON:0034769 lymphomyeloid tissue biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034769 UBERON:0010758 subdivision of organism along appendicular axis biolink:AnatomicalEntity mondo A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. http://purl.obolibrary.org/obo/UBERON_0010758 appendage segment|appendicular segment NCBITaxon:689832 Sedoreovirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_689832 UBERON:0007119 neck of femur biolink:AnatomicalEntity mondo The femur neck or neck of the femur is a flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward. http://purl.obolibrary.org/obo/UBERON_0007119 neck of the femur|femur neck|collum femoris|femoral neck NCBITaxon:689831 Spinareovirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_689831 UBERON:0007118 umbilicus biolink:AnatomicalEntity mondo The pit in the center of the abdominal wall marking the point where the umbilical cord entered in the fetus. http://purl.obolibrary.org/obo/UBERON_0007118 navel|umbilical region|umbilical part of abdomen UBERON:0009773 renal tubule biolink:AnatomicalEntity mondo A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule (generic)|tubule of excretory system HGNC:5440 IFNGR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5440 MONDO:0001910 ochronosis disorder biolink:Disease mondo MESH:D009794|DOID:14223|GARD:0007231|HP:0030764|NCIT:C84938|ICD9:270.2|ICD10:E70.29|UMLS:C0028817|SCTID:410042009 A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. NCIT:C84938|UMLS:C0028817|DOID:14223|MESH:D009794|SNOMEDCT:410042009 http://purl.obolibrary.org/obo/MONDO_0001910 ochronosis UBERON:0010744 sacral vertebra pre-cartilage condensation biolink:AnatomicalEntity mondo A sacral vertebra endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0010744 sacral vertebral pre-cartilage condensation group UBERON:0010745 sacral vertebra cartilage element biolink:AnatomicalEntity mondo A sacral vertebra endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010745 sacral vertebral cartilage condensation|sacral vertebral cartilage condensation group UBERON:0009767 proximal interphalangeal joint biolink:AnatomicalEntity mondo An inter-phalangeal joint that connects a proximal phalanx to either a medial or distal phalanx. http://purl.obolibrary.org/obo/UBERON_0009767 PIP joint|PIJ joint UBERON:0009768 distal interphalangeal joint biolink:AnatomicalEntity mondo An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. http://purl.obolibrary.org/obo/UBERON_0009768 DIP joint|DIJ joint MONDO:0001909 renal tubular acidosis biolink:Disease mondo UMLS:C0001126|GARD:0007552|MESH:D000141|SCTID:1776003|ICD9:588.89|ICD10:N25.89|DOID:14219 A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. UMLS:C0001126|MESH:D000141|DOID:14219|NCIT:C28129|SNOMEDCT:1776003 http://purl.obolibrary.org/obo/MONDO_0001909 gard_rare UBERON:0010742 bone of pelvic complex biolink:AnatomicalEntity mondo A bone that is part of a pelvic complex. Examples: pubis, ischium, fot phalanx, any tarsal bone, any bone of the pelvic fin or girdle. http://purl.obolibrary.org/obo/UBERON_0010742 hindlimb bone MONDO:0001908 obsolete hypophosphatasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001908 UBERON:0007100 primary circulatory organ biolink:AnatomicalEntity mondo A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. http://purl.obolibrary.org/obo/UBERON_0007100 adult heart|heart|dorsal tube UBERON:0010743 meningeal cluster biolink:AnatomicalEntity mondo The collection of all meningeal layers that line a central nervous system. http://purl.obolibrary.org/obo/UBERON_0010743 cluster of meninges|cerebral meninges|meninges CHEBI:15379 dioxygen biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_15379 O2|E 948|[OO]|molecular oxygen|dioxygene|Oxygen|Disauerstoff|dioxygen|E948|OXYGEN MOLECULE|E-948 CHEBI:6121 ketamine biolink:ChemicalSubstance mondo A member of the class of cyclohexanones in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by a methylamino group. http://purl.obolibrary.org/obo/CHEBI_6121 2-(methylamino)-2-(2-chlorophenyl)cyclohexanone|2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone|dl-ketamine|Ketamine|KETAMINE|DL-ketamine|2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone|NMDA|ketamine|(+-)-ketamine|ketamina|special K|ketaminum|2-(2-chlorophenyl)-2-(methylamino)cyclohexanone MONDO:0001903 calcific tendinitis biolink:Disease mondo ICD10:M65.2|UMLS:C0521515|SCTID:95414005|ICD10:M75.3|DOID:14181|ICD9:726.11 UMLS:C0521515|DOID:14181|SNOMEDCT:95414005 http://purl.obolibrary.org/obo/MONDO_0001903 MONDO:0001902 congenital agammaglobulinemia biolink:Disease mondo DOID:14177|ICD9:279.04|UMLS:C1457897 An instance of agammaglobulinemia that is present from birth. DOID:14177|UMLS:C1457897 http://purl.obolibrary.org/obo/MONDO_0001902 congenital hypogammaglobulinemia (finding)|congenital agammaglobulinemia|congenital hypogammaglobulinaemia CHEBI:15377 water biolink:ChemicalSubstance mondo An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms. http://purl.obolibrary.org/obo/CHEBI_15377 hydrogen hydroxide|agua|HOH|dihydridooxygen|[OH2]|aqua|water|WATER|Water|acqua|oxidane|eau|Wasser|dihydrogen oxide|H2O|BOUND WATER MONDO:0001901 selective IgG subclass deficiency biolink:Disease mondo NCIT:C27024|MESH:D017099|DOID:14176|ICD9:279.03|SCTID:190981001|ICD10:D80.3 A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria. DOID:14176|NCIT:C27024|MESH:D017099|SNOMEDCT:190981001 http://purl.obolibrary.org/obo/MONDO_0001901 selective immunoglobulin G deficiency|selective IgG deficiency disease|selective IgG immunodeficiency|selective deficiency of IgG|selective Immunoglobulin G subclass deficiency|Immunoglobin G subclass deficiency MONDO:0001900 obsolete central neurocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001900 MONDO:0001907 adult dermatomyositis biolink:Disease mondo DOID:14202|SCTID:402425006|NCIT:C27313 Dermatomyositis in an adult. SNOMEDCT:402425006|DOID:14202|NCIT:C27313 http://purl.obolibrary.org/obo/MONDO_0001907 adult onset dermatomyositis|dermatomyositis of adults UBERON:0007106 chorionic villus biolink:AnatomicalEntity mondo One of the minute vascular projections of the fetal chorion that combines with maternal uterine tissue to form the placenta. http://purl.obolibrary.org/obo/UBERON_0007106 fetal placenta|chorionic villous|placental villous|chorionic villi|fetal part of placenta|placental villi|villous chorion|embryonic placenta|placental villus|villous of placenta|chorionic villus|embryonic part of placenta MONDO:0001906 posterior dislocation of lens biolink:Disease mondo UMLS:C0155373|DOID:14199|ICD9:379.34|SCTID:14169000|COHD:374363|ICD10:H27.13 SNOMEDCT:14169000|DOID:14199|UMLS:C0155373 http://purl.obolibrary.org/obo/MONDO_0001906 MONDO:0001905 bicipital tenosynovitis biolink:Disease mondo UMLS:C0158304|ICD9:726.12|SCTID:41137001|DOID:14192|COHD:78237 SNOMEDCT:41137001|UMLS:C0158304|DOID:14192 http://purl.obolibrary.org/obo/MONDO_0001905 UBERON:0007105 vitelline duct biolink:AnatomicalEntity mondo A long narrow tube that joins the yolk-sac to the midgut lumen of the developing fetus. http://purl.obolibrary.org/obo/UBERON_0007105 omphalomesenteric duct|yolk duct|embryonic yolk stalk|ductus vitellinus|yolk-stalk CHEBI:15372 5,6,7,8-tetrahydrobiopterin biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_15372 2-amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydropteridin-4(3H)-one|Tetrahydrobiopterin|5,6,7,8-Tetrahydrobiopterin|BH4|5,6,7,8-tetrahydrobiopterin|5,6,7,8-TETRAHYDROBIOPTERIN|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone MONDO:0001904 polyneuropathy due to drug biolink:Disease mondo ICD9:357.6|COHD:381551|DOID:14184|ICD10:G62.0|SCTID:7339009|UMLS:C0154762 UMLS:C0154762|SNOMEDCT:7339009|DOID:14184 http://purl.obolibrary.org/obo/MONDO_0001904 MONDO:0001961 obsolete glossopharyngeal neuralgia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001961 MONDO:0001960 obsolete Alpers syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001960 MONDO:0001965 sclerosing keratitis biolink:Disease mondo ICD10:H16.33|DOID:14444|ICD9:370.54|UMLS:C0155090|SCTID:27886001 UMLS:C0155090|SNOMEDCT:27886001|DOID:14444 http://purl.obolibrary.org/obo/MONDO_0001965 sclerokeratitis CHEBI:27314 water-soluble vitamin biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_27314 wasserloesliche Vitamine|water-soluble vitamins MONDO:0001964 chronic tubotympanic suppurative otitis media biolink:Disease mondo ICD9:382.1|DOID:14435|ICD10:H66.10|SCTID:87665008|COHD:375290|ICD10:H66.1|UMLS:C0155440 A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. SNOMEDCT:87665008|UMLS:C0155440|DOID:14435 http://purl.obolibrary.org/obo/MONDO_0001964 MONDO:0001963 obsolete cerebral degeneration disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001963 MONDO:0001962 abnormality of glucagon secretion biolink:Disease mondo UMLS:C0154191|ICD9:251.4|DOID:14427|SCTID:11178005 UMLS:C0154191|SNOMEDCT:11178005|DOID:14427 http://purl.obolibrary.org/obo/MONDO_0001962 glucagon secretion abnormality HP:0012700 Abnormal large intestine physiology biolink:PhenotypicFeature mondo UMLS:C4022766 A functional anomaly of the large intestine. http://purl.obolibrary.org/obo/HP_0012700 MONDO:0013947 young adult-onset distal hereditary motor neuropathy biolink:Disease mondo OMIM:614881|Orphanet:314485|UMLS:C3553989|ICD10:G12.2 Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. ORPHA:314485|UMLS:C3553989|http://identifiers.org/omim/614881 http://purl.obolibrary.org/obo/MONDO_0013947 Young adult-onset dHMN|autosomal recessive distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, autosomal recessive, 5; DSMA5|spinal muscular atrophy, distal, autosomal recessive, type 5|spinal muscular atrophy, distal, autosomal recessive, 5|dSMA5|DSMA5 ordo_disease HP:0000711 Restlessness biolink:PhenotypicFeature mondo SNOMEDCT_US:162221009|UMLS:C3887611 A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress. http://purl.obolibrary.org/obo/HP_0000711 Restlessness MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) biolink:Disease mondo OMIM:614882|UMLS:C3553999 UMLS:C3553999|http://identifiers.org/omim/614882 http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger); PBD10A|peroxisome biogenesis disorder, complementation group 12|peroxisome biogenesis disorder 10A (Zellweger)|peroxisome biogenesis disorder, complementation group G|PBD10A UBERON:0007171 border of scapula biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0007171 scapular border MONDO:0013945 peroxisome biogenesis disorder 9B biolink:Disease mondo UMLS:CN159238|OMIM:614879 http://identifiers.org/omim/614879|UMLS:CN159238 http://purl.obolibrary.org/obo/MONDO_0013945 Refsum disease, adult, 2|peroxisome biogenesis disorder, complementation group R|peroxisome biogenesis disorder 9B; PBD9B|PBD9B|peroxisome biogenesis disorder type 9B|peroxisome biogenesis disorder 9B|peroxisome biogenesis disorder, PEX7-related, atypical|peroxisome biogenesis disorder, complementation group 11 MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia biolink:Disease mondo DOID:0090075|OMIM:614880|UMLS:C3553977|ICD10:23.0 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene. DOID:0090075|UMLS:C3553977|http://identifiers.org/omim/614880 http://purl.obolibrary.org/obo/MONDO_0013946 hypogonadotropic hypogonadism 15 with or without anosmia|HS6ST1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 15 with or without anosmia; HH15|HH15|hypogonadotropic hypogonadism caused by mutation in HS6ST1 HP:0000713 Agitation biolink:PhenotypicFeature mondo UMLS:C0085631|SNOMEDCT_US:24199005 A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. http://purl.obolibrary.org/obo/HP_0000713 GO:1904115 axon cytoplasm biolink:OntologyClass mondo Any cytoplasm that is part of a axon. http://purl.obolibrary.org/obo/GO_1904115 axoplasm MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) biolink:Disease mondo OMIM:614883|UMLS:C3554000 UMLS:C3554000|http://identifiers.org/omim/614883 http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger); PBD11A|peroxisome biogenesis disorder, complementation group 13|peroxisome biogenesis disorder 11A (Zellweger)|peroxisome biogenesis disorder, complementation group H|PBD11A HP:0000717 Autism biolink:PhenotypicFeature mondo UMLS:C0004352|SNOMEDCT_US:408857007|SNOMEDCT_US:408856003|SNOMEDCT_US:43614003|MSH:D001321 Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). http://purl.obolibrary.org/obo/HP_0000717 Autism UBERON:0034710 spinal cord ventricular layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034710 spinal cord lateral wall ventricular layer MONDO:0013950 peroxisome biogenesis disorder 11B biolink:Disease mondo UMLS:C3554001|OMIM:614885 http://identifiers.org/omim/614885|UMLS:C3554001 http://purl.obolibrary.org/obo/MONDO_0013950 peroxisome biogenesis disorder type 11B|peroxisome biogenesis disorder 11B; PBD11B|PBD11B|peroxisome biogenesis disorder 11B HGNC:5465 IGF1R biolink:OntologyClass mondo http://identifiers.org/hgnc/5465 MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) biolink:Disease mondo UMLS:C3554002|OMIM:614886 http://identifiers.org/omim/614886|UMLS:C3554002 http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder, complementation group 14|peroxisome biogenesis disorder 12A (Zellweger); PBD12A|peroxisome biogenesis disorder, complementation group J|peroxisome biogenesis disorder 12A (Zellweger)|PBD12A|Cg14|Cgj HGNC:5466 IGF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5466 HGNC:5467 IGF2R biolink:OntologyClass mondo http://identifiers.org/hgnc/5467 HGNC:5468 IGFALS biolink:OntologyClass mondo http://identifiers.org/hgnc/5468 UBERON:0007177 lamina propria of mucosa of colon biolink:AnatomicalEntity mondo A lamina propria that is part of a colonic mucosa. http://purl.obolibrary.org/obo/UBERON_0007177 colonic lamina propria|lamina propria of colonic mucosa|lamina propria mucosae of colon|lamina propria of colonic mucous membrane MONDO:0013954 mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency biolink:Disease mondo OMIM:614890|Orphanet:319558|UMLS:C4013948|ICD10:D84.8 Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene. UMLS:C4013948|ORPHA:319558|http://identifiers.org/omim/614890 http://purl.obolibrary.org/obo/MONDO_0013954 MSMD due to complete IL12B deficiency|immunodeficiency type 29|IL12B deficiency|immunodeficiency 29|MSMD due to complete interleukin 12B deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B|IMD29|immunodeficiency 29; IMD29|Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency|IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency ordo_disease|predisposition MONDO:0013955 mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency biolink:Disease mondo OMIM:614891|GARD:0010984|UMLS:C4013949|ICD10:D84.8|Orphanet:319552 Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene. UMLS:C4013949|ORPHA:319552|http://identifiers.org/omim/614891 http://purl.obolibrary.org/obo/MONDO_0013955 IMD30|Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|IL12RB1 deficiency|MSMD due to complete interleukin 12 receptor beta 1 deficiency|IL-12Râ1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1|MSMD due to complete IL12RB1 deficiency|Mendelian susceptibility to mycobacterial infections due to IL12 deficiency|immunodeficiency type 30|immunodeficiency 30; IMD30|IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|immunodeficiency 30 predisposition|ordo_disease UBERON:0034705 developing neuroepithelium biolink:AnatomicalEntity mondo An embryonic or larval epithelium that is committed to form part of the nervous system. http://purl.obolibrary.org/obo/UBERON_0034705 embryonic neuroepithelium|neuroepithelium|neurepithelium UBERON:0007174 medial border of scapula biolink:AnatomicalEntity mondo The medial border of the scapula (vertebral border, medial margin) is the longest of the three borders, and extends from the medial to the inferior angle. It is arched, intermediate in thickness between the superior and the axillary borders, and the portion of it above the spine forms an obtuse angle with the part below. This border presents an anterior and a posterior lip, and an intermediate narrow area. The anterior lip affords attachment to the Serratus anterior; the posterior lip, to the Supraspinatus above the spine, the Infraspinatus below; the area between the two lips, to the Levator scapulC& above the triangular surface at the commencement of the spine, to the Rhomboideus minor on the edge of that surface, and to the Rhomboideus major below it; this last is attached by means of a fibrous arch, connected above to the lower part of the triangular surface at the base of the spine, and below to the lower part of the border. http://purl.obolibrary.org/obo/UBERON_0007174 vertebral border of the scapula|margo medialis scapulae|medial border of the scapula|vertebral border|medial margin of the scapula|medial part of scapula|vertebral border of scapula|margo medialis (scapula) UBERON:0034706 proliferating neuroepithelium biolink:AnatomicalEntity mondo An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. http://purl.obolibrary.org/obo/UBERON_0034706 MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) biolink:Disease mondo UMLS:C3554004|MESH:C566624|OMIM:614887 http://identifiers.org/omim/614887|MESH:C566624|UMLS:C3554004 http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger); PBD13A|peroxisome biogenesis disorder, complementation group K|PBD13A|peroxisome biogenesis disorder 13A (Zellweger) UBERON:0034707 differentiating neuroepithelium biolink:AnatomicalEntity mondo A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. http://purl.obolibrary.org/obo/UBERON_0034707 MONDO:0013953 immunodeficiency 28 biolink:Disease mondo UMLS:C4013947|OMIM:614889 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene. UMLS:C4013947|http://identifiers.org/omim/614889 http://purl.obolibrary.org/obo/MONDO_0013953 Ifngr2 deficiency|IFNGR2 primary immunodeficiency disease|immunodeficiency 28; IMD28|immunodeficiency 28|immunodeficiency 28, Mycobacteriosis|immunodeficiency type 28|IMD28|primary immunodeficiency disease caused by mutation in IFNGR2 MONDO:0001958 obsolete autosomal dominant cerebellar ataxia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001958 UBERON:0034708 cerebellum marginal layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034708 marginal zone of cerebellum|MZCB MONDO:0001957 critical illness polyneuropathy biolink:Disease mondo ICD10:G62.81|COHD:374032|DOID:14402|UMLS:C0393851|ICD9:357.82|SCTID:230594005 DOID:14402|UMLS:C0393851|SNOMEDCT:230594005 http://purl.obolibrary.org/obo/MONDO_0001957 UBERON:0034709 hindbrain marginal layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034709 MZH|marginal zone of hindbrain MONDO:0001956 capillary leak syndrome biolink:Disease mondo SCTID:87730004|MESH:D019559|GARD:0001084|ICD10:I78.8|NCIT:C62578|Orphanet:188|MedDRA:10007196|DOID:14400|UMLS:C0343084|ICD9:448.9 A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure. DOID:14400|NCIT:C62578|MESH:D019559|SNOMEDCT:87730004|MEDDRA:10007196|ORPHA:188|UMLS:C0343084 http://purl.obolibrary.org/obo/MONDO_0001956 Clarkson disease|capillary leak syndrome with monoclonal gammopathy|SCLS|acute vascular leak syndrome|periodic systemic capillary leak syndrome|systemic capillary leak syndrome|AVLS|CLS|capillary leak syndrome|idiopathic capillary leak syndrome|capillary hyperpermeability syndrome ordo_disease MONDO:0001955 protozoal dysentery biolink:Disease mondo ICD9:007.8|ICD10:A07.8|ICD10:B50.B64|DOID:14397 A dysentery that involves protozoan infection. DOID:14397 http://purl.obolibrary.org/obo/MONDO_0001955 HGNC:5461 IGBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5461 MONDO:0001959 labyrinthine bilateral reactive loss biolink:Disease mondo ICD9:386.56|DOID:14413|SCTID:194377001|UMLS:C0155520 DOID:14413|UMLS:C0155520|SNOMEDCT:194377001 http://purl.obolibrary.org/obo/MONDO_0001959 bilateral loss of labyrinthine reactivity|loss of labyrinthine reactivity, bilateral HGNC:5464 IGF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5464 MONDO:0001972 Brucella melitensis brucellosis biolink:Disease mondo UMLS:C0302362|DOID:14456|ICD10:A23.0|SCTID:427999003|ICD9:023.0 A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain. UMLS:C0302362|DOID:14456|SNOMEDCT:427999003 http://purl.obolibrary.org/obo/MONDO_0001972 MONDO:0001971 farmer's lung disease biolink:Disease mondo COHD:435298|ICD10:J67.0|Orphanet:99906|NCIT:C34605|DOID:14453|ICD9:495.0|GARD:0006427|UMLS:C0015634|SCTID:18690003|MedDRA:10016221 Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs. MESH:D005203|UMLS:C0015634|SNOMEDCT:18690003|ORPHA:99906|NCIT:C34605|DOID:14453|MEDDRA:10016221 http://purl.obolibrary.org/obo/MONDO_0001971 Farmers lung|farmer lung|farmer's lung gard_rare|ordo_disease MONDO:0001970 obsolete hypokalemic periodic paralysis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001970 MONDO:0001976 chorea gravidarum biolink:Disease mondo SCTID:25113000|MESH:D020150|EFO:1001290|ICD9:646.80|UMLS:C0264746|DOID:14483 A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9) UMLS:C0264746|SNOMEDCT:25113000|MESH:D020150|DOID:14483 http://purl.obolibrary.org/obo/MONDO_0001976 CHEBI:29987 glutamate(2-) biolink:ChemicalSubstance mondo A dicarboxylic acid dianion that is the conjugate base of glutamate(1-). http://purl.obolibrary.org/obo/CHEBI_29987 2-aminopentanedioate|glutamate|glutamate(2-)|glutamic acid dianion UBERON:0019143 intramuscular adipose tissue biolink:AnatomicalEntity mondo Adipose tissue which is located throughout skeletal muscle and is responsible for the marbling seen in certain cuts of beef. In humans, excess accumulation of intramuscular fat is associated with insulin resistance and type 2 diabetes. http://purl.obolibrary.org/obo/UBERON_0019143 intramuscular fat CHEBI:29986 D-glutamate(1-) biolink:ChemicalSubstance mondo An alpha-amino-acid anion that is the conjugate base of D-glutamic acid, having anionic carboxy groups and a cationic amino group http://purl.obolibrary.org/obo/CHEBI_29986 (2R)-2-ammoniopentanedioate|D-glutamate(1-)|D-glutamic acid monoanion|hydrogen D-glutamate|D-glutamate MONDO:0001975 cavernous hemangioma of orbit biolink:Disease mondo DOID:14463|ICD9:228.09|SCTID:254998002|NCIT:C4546|UMLS:C0346352 A cavernous hemangioma arising from the orbit. NCIT:C4546|UMLS:C0346352|SNOMEDCT:254998002|DOID:14463 http://purl.obolibrary.org/obo/MONDO_0001975 orbit cavernous hemangioma|cavernous hemangioma of the orbit|orbit cavernous angioma|cavernous angioma of orbit|cavernous angioma of the orbit MONDO:0001974 hemangioma of orbit biolink:Disease mondo DOID:14459|ICD9:228.09|UMLS:C1335128|SCTID:121951000119101|NCIT:C6245 A hemangioma arising from the orbit. NCIT:C6245|UMLS:C1335128|SNOMEDCT:121951000119101|DOID:14459 http://purl.obolibrary.org/obo/MONDO_0001974 hemangioma of the orbit|orbit angioma|angioma of orbit|orbit hemangioma|angioma of the orbit CHEBI:29989 D-glutamate(2-) biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_29989 D-glutamate(2-)|(2R)-2-aminopentanedioate|D-glutamic acid dianion|D-glutamate MONDO:0001973 Brucella abortus brucellosis biolink:Disease mondo ICD9:023.1|DOID:14457|ICD10:A23.1|SCTID:427795000 A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia. SNOMEDCT:427795000|DOID:14457 http://purl.obolibrary.org/obo/MONDO_0001973 CHEBI:29988 L-glutamate(2-) biolink:ChemicalSubstance mondo An L-alpha-amino acid anion that is the dianion obtained by the deprotonation of the both the carboxy groups of L-glutamic acid. http://purl.obolibrary.org/obo/CHEBI_29988 L-glutamic acid dianion|L-glutamate|(2S)-2-aminopentanedioate|L-glutamate(2-) MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) biolink:Disease mondo MESH:C566422|OMIM:614870|UMLS:C3553947 MESH:C566422|UMLS:C3553947|http://identifiers.org/omim/614870 http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder, complementation group B|PBD6A|peroxisome biogenesis disorder 6A (Zellweger); PBD6A|peroxisome biogenesis disorder, complementation group 7|peroxisome biogenesis disorder 6A (Zellweger) MONDO:0013937 peroxisome biogenesis disorder 6B biolink:Disease mondo OMIM:614871|UMLS:C3553948 UMLS:C3553948|http://identifiers.org/omim/614871 http://purl.obolibrary.org/obo/MONDO_0013937 peroxisome biogenesis disorder 6B|peroxisome biogenesis disorder type 6B|PBD6B|peroxisome biogenesis disorder 6B; PBD6B UBERON:0007160 inferior petrosal sinus biolink:AnatomicalEntity mondo The inferior petrosal sinus, within the human head, is an area beneath the brain, which allows blood veins to span the area, from the center of the head downward. It drains from the cavernous sinus (beneath the brain) to the sigmoid sinuses above the internal jugular vein. http://purl.obolibrary.org/obo/UBERON_0007160 sinus petrosal inferior CHEBI:29985 L-glutamate(1-) biolink:ChemicalSubstance mondo An alpha-amino-acid anion that is the conjugate base of L-glutamic acid, having anionic carboxy groups and a cationic amino group http://purl.obolibrary.org/obo/CHEBI_29985 hydrogen L-glutamate|L-glutamate|L-glutamate(1-)|L-glutamic acid monoanion|(2S)-2-ammoniopentanedioate|L-glutamic acid, ion(1-) MONDO:0013934 combined immunodeficiency due to STK4 deficiency biolink:Disease mondo UMLS:C3553943|ICD10:D81.8|OMIM:614868|Orphanet:314689 Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency). ORPHA:314689|UMLS:C3553943|http://identifiers.org/omim/614868 http://purl.obolibrary.org/obo/MONDO_0013934 TIIAC|T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations; TIIAC|Mst1 deficiency|T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations|Cid due to STK4 deficiency|STK4 deficiency ordo_disease MONDO:0013935 Usher syndrome type 1J biolink:Disease mondo DOID:0110836|UMLS:C3553944|OMIM:614869|ICD10:H35.5 Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene. DOID:0110836|UMLS:C3553944|http://identifiers.org/omim/614869 http://purl.obolibrary.org/obo/MONDO_0013935 USH1J|CIB2 Usher syndrome|Usher syndrome type Ij|USHER syndrome, type Ij; USH1J|USHER syndrome, type Ij|Usher syndrome, type 1J|Usher syndrome caused by mutation in CIB2 HP:0000726 Dementia biolink:PhenotypicFeature mondo MSH:D003704|SNOMEDCT_US:52448006|UMLS:C0497327 A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. http://purl.obolibrary.org/obo/HP_0000726 Dementia, progressive|Progressive dementia|Dementia HP:0000729 Autistic behavior biolink:PhenotypicFeature mondo MSH:D000067877|UMLS:C1510586|UMLS:C0856975 Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. http://purl.obolibrary.org/obo/HP_0000729 ASD|Pervasive developmental disorder|Autism spectrum disorder|Autistic behaviour|Autistic behaviors|Autism spectrum disorders MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) biolink:Disease mondo UMLS:C3888385|OMIM:614872 UMLS:C3888385|http://identifiers.org/omim/614872 http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger)|PBD7A|peroxisome biogenesis disorder, complementation group A|peroxisome biogenesis disorder 7A (Zellweger); PBD7A|peroxisome biogenesis disorder, complementation group 8 UBERON:0034720 head taste bud biolink:AnatomicalEntity mondo A taste bud that is located on the skin of the head. http://purl.obolibrary.org/obo/UBERON_0034720 MONDO:0013939 peroxisome biogenesis disorder 7B biolink:Disease mondo UMLS:C3553951|OMIM:614873 http://identifiers.org/omim/614873|UMLS:C3553951 http://purl.obolibrary.org/obo/MONDO_0013939 PBD7B|peroxisome biogenesis disorder 7B; PBD7B|peroxisome biogenesis disorder 7B|peroxisome biogenesis disorder type 7B UBERON:0034721 pharyngeal taste bud biolink:AnatomicalEntity mondo A taste bud that is located in the pharynx. http://purl.obolibrary.org/obo/UBERON_0034721 UBERON:0034711 cortical preplate biolink:AnatomicalEntity mondo The layer of the developing cerebral cortex that is formed from the first cohort of neurons to migrate out of the cortical ventricular zone; split by the second wave into marginal zone and subplate. http://purl.obolibrary.org/obo/UBERON_0034711 HGNC:5476 IGFBP7 biolink:OntologyClass mondo http://identifiers.org/hgnc/5476 MONDO:0013940 primary ciliary dyskinesia 18 biolink:Disease mondo ICD10:Q34.8|OMIM:614874|UMLS:C3543825|DOID:0110604 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene. DOID:0110604|http://identifiers.org/omim/614874|UMLS:C3543825 http://purl.obolibrary.org/obo/MONDO_0013940 CILD18|ciliary dyskinesia, primary, 18; CILD18|ciliary dyskinesia, primary, 18|primary ciliary dyskinesia 18 with or without situs inversus|ciliary dyskinesia, primary, 18, with or without situs inversus|primary ciliary dyskinesia type 18|DNAAF5 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 18|primary ciliary dyskinesia caused by mutation in DNAAF5 UBERON:0034713 cranial neuron projection bundle biolink:AnatomicalEntity mondo Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain http://purl.obolibrary.org/obo/UBERON_0034713 neuron projection bundle from brain|cranial nerve or tract|cranial nerve fiber bundle|cranial nerve fiber tract UBERON:0034714 epiphyseal tract biolink:AnatomicalEntity mondo A cranial nerve fiber tract that innervates the parietal eye. http://purl.obolibrary.org/obo/UBERON_0034714 epiphyseal nerve MONDO:0013943 peroxisome biogenesis disorder 8B biolink:Disease mondo UMLS:C3553960|OMIM:614877 UMLS:C3553960|http://identifiers.org/omim/614877 http://purl.obolibrary.org/obo/MONDO_0013943 peroxisome biogenesis disorder 8B; PBD8B|peroxisome biogenesis disorder type 8B|peroxisome biogenesis disorder 8B|PBD8B UBERON:0034715 pineal tract biolink:AnatomicalEntity mondo A cranial nerve fiber tract that innervates the pineal body. http://purl.obolibrary.org/obo/UBERON_0034715 pineal nerve MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation biolink:Disease mondo UMLS:C3553961|OMIM:614878|Orphanet:324530 UMLS:C3553961|ORPHA:324530|http://identifiers.org/omim/614878 http://purl.obolibrary.org/obo/MONDO_0013944 AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated|AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated; APLAID|APLAID ordo_disease UBERON:0034717 integumental taste bud biolink:AnatomicalEntity mondo A taste bud that is located external to the digestive tube, on the head or body, as found in species such as goldfish. http://purl.obolibrary.org/obo/UBERON_0034717 MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria biolink:Disease mondo Orphanet:99646|UMLS:C3553958|OMIM:614875 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. UMLS:C3553958|http://identifiers.org/omim/614875|ORPHA:99646 http://purl.obolibrary.org/obo/MONDO_0013941 metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria|spondyloenchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria ordo_disease MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) biolink:Disease mondo UMLS:C3553959|OMIM:614876 UMLS:C3553959|http://identifiers.org/omim/614876 http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger)|peroxisome biogenesis disorder, complementation group D|peroxisome biogenesis disorder 8A (Zellweger); PBD8A|peroxisome biogenesis disorder, complementation group 9|PBD8A MONDO:0001969 mixed gonadal dysgenesis biolink:Disease mondo UMLS:C0018055|DOID:14449|MESH:D006060|GARD:0002539|SCTID:83579008 A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. DOID:14449|MESH:D006060|UMLS:C0018055|SNOMEDCT:83579008 http://purl.obolibrary.org/obo/MONDO_0001969 gonadal dysgenesis mixed gard_rare UBERON:0034719 lip taste bud biolink:AnatomicalEntity mondo A taste bud that is located on a lip. http://purl.obolibrary.org/obo/UBERON_0034719 MONDO:0001968 obsolete 46 XY gonadal dysgenesis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001968 MONDO:0001967 gonadal dysgenesis biolink:Disease mondo COHD:201951|MESH:D006059|ICD9:758.6|SCTID:205681004|DOID:14447|GARD:0002538|NCIT:C61420 A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. DOID:14447|MESH:D006059|NCIT:C61420|SNOMEDCT:205681004 http://purl.obolibrary.org/obo/MONDO_0001967 gonadal dysgenesis syndrome gard_rare MONDO:0001966 chronic closed-angle glaucoma biolink:Disease mondo ICD10:H40.22|COHD:432312|UMLS:C0154947|DOID:14445|SCTID:33647009|ICD9:365.23 Chronic form of angle-closure glaucoma. DOID:14445|UMLS:C0154947|SNOMEDCT:33647009 http://purl.obolibrary.org/obo/MONDO_0001966 angle-closure glaucoma, chronic|chronic angle-closure glaucoma|chronic narrow angle glaucoma|anatomical narrow angle glaucoma MONDO:0001943 Plasmodium malariae malaria biolink:Disease mondo ICD10:B52.9|ICD9:084.2|DOID:14324|UMLS:C0024536|ICD10:B52|NCIT:C34799|SCTID:27618009 Malaria resulting from infection by Plasmodium malariae. DOID:14324|NCIT:C34799|UMLS:C0024536|SNOMEDCT:27618009 http://purl.obolibrary.org/obo/MONDO_0001943 malaria by Plasmodium malariae|quartan malaria MONDO:0001942 generalized anxiety disorder biolink:Disease mondo SCTID:21897009|EFO:1001892|COHD:434613|ICD10:F41.1|NCIT:C92622|ICD9:300.02|DOID:14320 An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months. DOID:14320|NCIT:C92622|SNOMEDCT:21897009 http://purl.obolibrary.org/obo/MONDO_0001942 GAD MONDO:0001941 blindness (disorder) biolink:Disease mondo ICD10:H54|DOID:1432|NCIT:C97109|ICD9:369|MESH:D001766|SCTID:105597003 The lack of vision. It is caused by neurological or physiological factors. NCIT:C97109|SNOMEDCT:105597003|DOID:1432|MESH:D001766 http://purl.obolibrary.org/obo/MONDO_0001941 vision impairment|visual impairment|vision loss|blindness MONDO:0001940 pleuropneumonia biolink:Disease mondo DOID:14319|SCTID:60485005|UMLS:C0032241|MESH:D011001 Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura. DOID:14319|SNOMEDCT:60485005|MESH:D011001|UMLS:C0032241 http://purl.obolibrary.org/obo/MONDO_0001940 MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ biolink:Disease mondo ICD10:E71.1|UMLS:C3553915|GARD:0012621|OMIM:614857|Orphanet:369955 http://identifiers.org/omim/614857|ORPHA:369955|UMLS:C3553915 http://purl.obolibrary.org/obo/MONDO_0013925 methylmalonic aciduria and homocystinuria, cblJ type; MAHCJ|cobalamin J defect|methylmalonic aciduria and homocystinuria, cblJ type|cblJ defects|methylmalonic acidemia with homocystinuria type cblJ|methylmalonic aciduria with homocystinuria, type cblJ|MAHCJ|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ gard_rare|ordo_clinical_subtype MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia biolink:Disease mondo UMLS:C3540450|DOID:0090087|ICD10:E23.0|OMIM:614858 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene. http://identifiers.org/omim/614858|DOID:0090087|UMLS:C3540450 http://purl.obolibrary.org/obo/MONDO_0013926 hypogonadotropic hypogonadism 14 with or without anosmia|HH14|hypogonadotropic hypogonadism 14 with or without anosmia; HH14|WDR11 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in WDR11 MONDO:0013923 microcephaly 9, primary, autosomal recessive biolink:Disease mondo UMLS:C3553886|OMIM:614852|DOID:0070292 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene. UMLS:C3553886|DOID:0070292|http://identifiers.org/omim/614852 http://purl.obolibrary.org/obo/MONDO_0013923 MCPH9|microcephaly 9, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CEP152|CEP152 autosomal recessive primary microcephaly|microcephaly 9, primary, autosomal recessive; MCPH9 MONDO:0013924 osteogenesis imperfecta type 13 biolink:Disease mondo ICD10:Q78.0|OMIM:614856|UMLS:C3553887|DOID:0110342 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene. DOID:0110342|UMLS:C3553887|http://identifiers.org/omim/614856 http://purl.obolibrary.org/obo/MONDO_0013924 BMP1 osteogenesis imperfecta|osteogenesis imperfecta, type 13|osteogenesis imperfecta, type XIII; OI13|OI, type 13|OI13|osteogenesis imperfecta caused by mutation in BMP1|osteogenesis imperfecta, type XIII|osteogenesis imperfecta type XIII MONDO:0013929 autosomal recessive nonsyndromic deafness 98 biolink:Disease mondo UMLS:C3553932|ICD10:H90.3|OMIM:614861|DOID:0110540 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene. http://identifiers.org/omim/614861|DOID:0110540|UMLS:C3553932 http://purl.obolibrary.org/obo/MONDO_0013929 deafness, autosomal recessive 98; DFNB98|deafness, autosomal recessive 98|autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR|DFNB98|autosomal recessive nonsyndromic deafness type 98|TSPEAR autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 98|autosomal recessive deafness 98 clingen UBERON:0034730 olfactory tract linking bulb to ipsilateral dorsal telencephalon biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034730 lateral olfactory tract|tractus olfactorius lateralis MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) biolink:Disease mondo OMIM:614859|UMLS:C3553929|MESH:C566633 http://identifiers.org/omim/614859|MESH:C566633|UMLS:C3553929 http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger); PBD3A|peroxisome biogenesis disorder 3A (Zellweger)|PBD3A|peroxisome biogenesis disorder, complementation group 3 MONDO:0013928 dystonia 23 biolink:Disease mondo UMLS:C3538999|OMIM:614860|Orphanet:420492|DOID:0090051|ICD10:G24.8 Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene. http://identifiers.org/omim/614860|DOID:0090051|UMLS:C3538999|ORPHA:420492 http://purl.obolibrary.org/obo/MONDO_0013928 dystonia 23; DYT23|dystonic disorder caused by mutation in CACNA1B|dystonia 23|adult-onset cervical dystonia, DYT23 type|DYT23|dystonia type 23|CACNA1B dystonic disorder ordo_disease UBERON:0007158 lumen of anal canal biolink:AnatomicalEntity mondo An anatomical cavity that surrounded_by a anal canal. http://purl.obolibrary.org/obo/UBERON_0007158 anal canal lumen UBERON:0034722 mouth roof taste bud biolink:AnatomicalEntity mondo A taste bud that is located on the roof of the mouth. http://purl.obolibrary.org/obo/UBERON_0034722 UBERON:0034723 fin taste bud biolink:AnatomicalEntity mondo A taste bud that is located on a fin. http://purl.obolibrary.org/obo/UBERON_0034723 UBERON:0034724 esophageal taste bud biolink:AnatomicalEntity mondo A taste bud that is located in the esophagus. http://purl.obolibrary.org/obo/UBERON_0034724 MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) biolink:Disease mondo UMLS:C3553940|OMIM:614866 UMLS:C3553940|http://identifiers.org/omim/614866 http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger)|peroxisome biogenesis disorder, complementation group F|peroxisome biogenesis disorder, complementation group 5|PBD5A|peroxisome biogenesis disorder 5A (Zellweger); PBD5A|peroxisome biogenesis disorder, complementation group 10 UBERON:0034726 trunk taste bud biolink:AnatomicalEntity mondo A taste bud that is located on the skin of the trunk. http://purl.obolibrary.org/obo/UBERON_0034726 MONDO:0013933 peroxisome biogenesis disorder 5B biolink:Disease mondo UMLS:C3542026|OMIM:614867 UMLS:C3542026|http://identifiers.org/omim/614867 http://purl.obolibrary.org/obo/MONDO_0013933 peroxisome biogenesis disorder type 5B|peroxisome biogenesis disorder 5B|peroxisome biogenesis disorder 5B; PBD5B|PBD5B MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) biolink:Disease mondo OMIM:614862|UMLS:C3553936|MESH:C563301 MESH:C563301|UMLS:C3553936|http://identifiers.org/omim/614862 http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger); PBD4A|peroxisome biogenesis disorder 4A (Zellweger)|PBD4A|peroxisome biogenesis disorder, complementation group 6|peroxisome biogenesis disorder, complementation group 4|peroxisome biogenesis disorder, complementation group C UBERON:0034728 autonomic nerve biolink:AnatomicalEntity mondo The autonomic nerve is a small nerve which carries postganglionic sympathetic and parasympathetic neurons from the zygomaticotemporal nerve; a branch of the maxillary nerve, to the lacrimal nerve; a branch of the ophthalmic nerve. These neurons derive from the superior cervical ganglion and the pterygopalatine ganglion respectively. They will travel to the lacrimal gland via the lacrimal nerve. Parasympathetic will induce lacrimation and vice versa. http://purl.obolibrary.org/obo/UBERON_0034728 visceral nerve|nervus visceralis MONDO:0013931 peroxisome biogenesis disorder 4B biolink:Disease mondo OMIM:614863|UMLS:C3553937 UMLS:C3553937|http://identifiers.org/omim/614863 http://purl.obolibrary.org/obo/MONDO_0013931 peroxisome biogenesis disorder type 4B|peroxisome biogenesis disorder 4B|peroxisome biogenesis disorder 4B; PBD4B|PBD4B UBERON:0007151 mitral valve leaflet biolink:AnatomicalEntity mondo A valve leafleft that is part of a mitral valve. http://purl.obolibrary.org/obo/UBERON_0007151 mitral valve leaflet|mitral valve leaflets|leaflet of mitral valve|mitral valvular leaflet UBERON:0034729 sympathetic nerve biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0034729 MONDO:0001936 brawny scleritis biolink:Disease mondo DOID:14287|UMLS:C0155356|ICD10:H15.02|SCTID:91612009|ICD9:379.06 SNOMEDCT:91612009|DOID:14287|UMLS:C0155356 http://purl.obolibrary.org/obo/MONDO_0001936 MONDO:0001935 neurogenic arthropathy biolink:Disease mondo DOID:14286|COHD:74723|SCTID:359554008|EFO:1001378|ICD10:M14.6|ICD9:713.5|MESH:D001177|UMLS:C0003892 Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed) UMLS:C0003892|MESH:D001177|DOID:14286|SNOMEDCT:359554008 http://purl.obolibrary.org/obo/MONDO_0001935 neuropathic arthropathy (& Charcot's)|Charcot's joint|Charcot's arthropathy|arthropathy associated with neurological disorder|neuropathic arthropathy MONDO:0001934 obsolete primary hypertrophic osteoarthropathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001934 MONDO:0001933 endocrine pancreas disease biolink:Disease mondo ICD10:E16|NCIT:C27067|UMLS:C0271633|ICD9:251|DOID:1428|SCTID:17346000 A disease involving the endocrine pancreas. UMLS:C0271633|NCIT:C27067|DOID:1428|SNOMEDCT:17346000 http://purl.obolibrary.org/obo/MONDO_0001933 disease of endocrine pancreas|endocrine pancreas disorder|disease or disorder of endocrine pancreas|endocrine pancreas disease|disorder of endocrine pancreas|disorder of pancreatic islets|disorder of islets of langerhans|endocrine pancreas disease or disorder|disorder of endocrine pancreas MONDO:0001939 skin epithelioid hemangioma biolink:Disease mondo EFO:1001424|SCTID:400131007|DOID:14308|NCIT:C7393|UMLS:C0002989 A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells. UMLS:C0002989|DOID:14308|SNOMEDCT:400131007|NCIT:C7393 http://purl.obolibrary.org/obo/MONDO_0001939 zone of skin histiocytoid hemangioma|epithelioid hemangioma of skin|epithelioid hemangioma of the skin|skin epithelioid hemangioma|angiolymphoid hyperplasia of skin|angiolymphoid hyperplasia of the skin|histiocytoid hemangioma of zone of skin|angiolymphoid cutaneous hyperplasia|histiocytoid hemangioma of skin|histiocytoid hemangioma of the skin NCBITaxon:232795 Dicistroviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_232795 MONDO:0001938 vulvar dystrophy biolink:Disease mondo ICD9:624.09|ICD9:624.0|COHD:436480|UMLS:C0013426|SCTID:51689003|DOID:14292|ICD10:N90.4|NCIT:C34565 A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness. UMLS:C0013426|DOID:14292|NCIT:C34565|SNOMEDCT:51689003 http://purl.obolibrary.org/obo/MONDO_0001938 dystrophy of vulva UBERON:0007159 lumen of colon biolink:AnatomicalEntity mondo An anatomical cavity that surrounded_by a colon. http://purl.obolibrary.org/obo/UBERON_0007159 colonic lumen|colon lumen MONDO:0001937 obsolete LEOPARD syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001937 MONDO:0001950 corneal ectasia biolink:Disease mondo UMLS:C0155135|SCTID:14748007|COHD:380725|DOID:1436|ICD10:H18.71|ICD9:371.71 UMLS:C0155135|DOID:1436|SNOMEDCT:14748007 http://purl.obolibrary.org/obo/MONDO_0001950 CHEBI:27306 vitamin B6 biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_27306 Vitamin B6|vitamina B6|vitamine B6|vitamin B-6 HP:0000708 Behavioral abnormality biolink:PhenotypicFeature mondo UMLS:C0233514|UMLS:C0004941|SNOMEDCT_US:25786006|MSH:D000066553|SNOMEDCT_US:277843001|MSH:D001526 An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. http://purl.obolibrary.org/obo/HP_0000708 Behavioral symptoms|Behavioral disturbances|Behavioural abnormality|Behavioral problems|Behavioral abnormality|Behavioral changes|Behavioral disorders|Psychiatric disorders|Behavioral/psychiatric abnormalities|Psychiatric disturbances|Behavioural/Psychiatric abnormality MONDO:0001954 thrombophlebitis migrans biolink:Disease mondo DOID:14392|COHD:439838|ICD9:453.1|SCTID:31268005|UMLS:C0152250|ICD10:I82.1 A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. DOID:14392|SNOMEDCT:31268005|UMLS:C0152250 http://purl.obolibrary.org/obo/MONDO_0001954 MONDO:0001953 pyuria (disease) biolink:Disease mondo DOID:1439|HP:0012085|MESH:D011776 The presence of excessive white blood cells in the urine as determined by urinalysis. MESH:D011776|DOID:1439|NCIT:C119028 http://purl.obolibrary.org/obo/MONDO_0001953 pus cells in urine|pyuria MONDO:0001952 parietal lobe cancer biolink:Disease mondo COHD:4181481|UMLS:C0153637|ICD10:C71.3|DOID:14384|SCTID:363469001|ICD9:191.3 A malignant neoplasm involving the parietal lobe SNOMEDCT:363469001|UMLS:C0153637|DOID:14384 http://purl.obolibrary.org/obo/MONDO_0001952 malignant neoplasm of parietal lobe|malignant parietal lobe neoplasm|parietal lobe neoplasm|cancer of parietal lobe|tumor of parietal lobe|parietal lobe cancer NCBITaxon:5653 Kinetoplastea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5653 kinetoplasts|kinetoplastids|Kinetoplastida|Protomonadida MONDO:0001951 Norwegian scabies biolink:Disease mondo GARD:0012151|DOID:14374|UMLS:C0028425|SCTID:128870005|NCIT:C34855 A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia. NCIT:C34855|SNOMEDCT:128870005|UMLS:C0028425|DOID:14374 http://purl.obolibrary.org/obo/MONDO_0001951 crusted scabies|seven year itch NCBITaxon:5654 Trypanosomatidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5654 MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia biolink:Disease mondo MESH:C535764|UMLS:C1856897|OMIM:614841|GARD:0000276|DOID:0090072|ICD10:E23.0 A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21. http://identifiers.org/omim/614841|UMLS:C1856897|DOID:0090072|MESH:C535764 http://purl.obolibrary.org/obo/MONDO_0013914 eunuchoidism, familial hypogonadotropic|familial hypogonadotropic eunuchoidism|eunuchoidism familial hypogonadotropic|hypogonadotropic hypogonadism 12 with or without anosmia; HH12|familial hypogonadotrophic eunuchoidism|gonadotropin deficiency familial idiopathic|familial idiopathic gonadotrpin deficiency|FIGD|hypogonadotropic hypogonadism 12 with or without anosmia|gonadotropin deficiency, familial idiopathic|HH12 gard_rare MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia biolink:Disease mondo OMIM:614842|DOID:0090073|UMLS:C3541462|ICD10:E23.0 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene. http://identifiers.org/omim/614842|DOID:0090073|UMLS:C3541462 http://purl.obolibrary.org/obo/MONDO_0013915 hypogonadotropic hypogonadism caused by mutation in KISS1|hypogonadotropic hypogonadism 13 with or without anosmia; HH13|KISS1 hypogonadotropic hypogonadism|HH13|hypogonadotropic hypogonadism 13 with or without anosmia MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia biolink:Disease mondo DOID:0090089|OMIM:614839|ICD10:E23.0|UMLS:C3553843 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene. http://identifiers.org/omim/614839|DOID:0090089|UMLS:C3553843 http://purl.obolibrary.org/obo/MONDO_0013912 TAC3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 10 with or without anosmia; HH10|HH10|hypogonadotropic hypogonadism 10 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in TAC3 MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia biolink:Disease mondo ICD10:E23.0|UMLS:C3553844|OMIM:614840|DOID:0090071 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene. http://identifiers.org/omim/614840|DOID:0090071|UMLS:C3553844 http://purl.obolibrary.org/obo/MONDO_0013913 HH11|TACR3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 11 with or without anosmia; HH11|hypogonadotropic hypogonadism caused by mutation in TACR3|hypogonadotropic hypogonadism 11 with or without anosmia MONDO:0013918 distal tetrasomy 15q biolink:Disease mondo Orphanet:314588|ICD10:Q99.8|UMLS:C3553858|UMLS:CN203770|OMIM:614846 UMLS:CN203770|http://identifiers.org/omim/614846|ORPHA:314588|UMLS:C3553858 http://purl.obolibrary.org/obo/MONDO_0013918 tetrasomy type 15Q26|distal tetrasomy type 15q|tetrasomy 15(q25-qter)|tetrasomy 15q26|levy-Shanske syndrome ordo_etiological_subtype MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 biolink:Disease mondo OMIM:614847 http://identifiers.org/omim/614847 http://purl.obolibrary.org/obo/MONDO_0013919 EIG12|epilepsy, idiopathic generalized, susceptibility to, type 12|susceptibility to idiopathic generalized epilepsy 12|epilepsy, idiopathic generalized, susceptibility to, 12; EIG12|epilepsy, idiopathic generalized, susceptibility to, 12 predisposition MONDO:0013916 nephronophthisis 14 biolink:Disease mondo DOID:0111122|OMIM:614844|UMLS:C3539071 Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. http://identifiers.org/omim/614844|UMLS:C3539071|DOID:0111122 http://purl.obolibrary.org/obo/MONDO_0013916 Joubert syndrome 19|ZNF423 nephronophthisis (disease)|nephronophthisis 14; NPHP14|NPHP14|nephronophthisis 14|nephronophthisis (disease) caused by mutation in ZNF423|nephronophthisis type 14 HP:0000707 Abnormality of the nervous system biolink:PhenotypicFeature mondo UMLS:C0497552|MSH:D009421|SNOMEDCT_US:88425004 An abnormality of the nervous system. http://purl.obolibrary.org/obo/HP_0000707 Neurologic abnormalities|Brain and/or spinal cord issue|Neurological abnormality|Abnormality of the nervous system MONDO:0013917 nephronophthisis 15 biolink:Disease mondo OMIM:614845|UMLS:C3541853|DOID:0111123 Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. http://identifiers.org/omim/614845|DOID:0111123|UMLS:C3541853 http://purl.obolibrary.org/obo/MONDO_0013917 nephronophthisis type 15|CEP164 nephronophthisis (disease)|NPHP15|nephronophthisis 15; NPHP15|nephronophthisis 15|nephronophthisis (disease) caused by mutation in CEP164 CHEBI:15339 acceptor biolink:ChemicalSubstance mondo A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. http://purl.obolibrary.org/obo/CHEBI_15339 accepteur|Oxidized donor|Hydrogen-acceptor|A|Acceptor|Akzeptor UBERON:0007147 lumen of midgut biolink:AnatomicalEntity mondo An anatomical cavity that surrounded_by a midgut. http://purl.obolibrary.org/obo/UBERON_0007147 midgut lumen UBERON:0007144 embryonic post-anal tail biolink:AnatomicalEntity mondo An embryonic structure that will either develop into a post-anal tail or recede into a vestigial remnant of the tail. http://purl.obolibrary.org/obo/UBERON_0007144 tail of embryo|embryo tail|embryonic tail MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 biolink:Disease mondo OMIM:614850 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene. http://identifiers.org/omim/614850 http://purl.obolibrary.org/obo/MONDO_0013921 encephalopathy, acute, infection-induced, susceptibility to, 6|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6|Herpes simplex encephalitis, susceptibility to, type 4|herpes simplex encephalitis caused by mutation in TICAM1|IIAE6|herpes simplex encephalitis, susceptibility to, 4|TICAM1 herpes simplex encephalitis|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6; IIAE6 predisposition UBERON:0007143 right internal carotid artery biolink:AnatomicalEntity mondo An internal carotid artery that branching_part_of a right common carotid artery plus branches. http://purl.obolibrary.org/obo/UBERON_0007143 arteria carotis interna dextra UBERON:0007142 left internal carotid artery biolink:AnatomicalEntity mondo An internal carotid artery that branching_part_of a left common carotid artery plus branches. http://purl.obolibrary.org/obo/UBERON_0007142 arteria caritis interna sinistra MONDO:0013922 Seckel syndrome 7 biolink:Disease mondo OMIM:614851|Orphanet:319675|ICD10:Q87.1|DOID:0070011|UMLS:C3553870 Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. UMLS:C3553870|DOID:0070011|ORPHA:319675|http://identifiers.org/omim/614851 http://purl.obolibrary.org/obo/MONDO_0013922 Seckel syndrome 7|NIN Seckel syndrome|Seckel syndrome caused by mutation in NIN|microcephalic primordial dwarfism, Dauber type|SCKL7|Seckel syndrome 7; SCKL7|Seckel syndrome type 7 ordo_malformation_syndrome CHEBI:17996 chloride biolink:ChemicalSubstance mondo A halide anion formed when chlorine picks up an electron to form an an anion. http://purl.obolibrary.org/obo/CHEBI_17996 chloride|Chloride|Chloride(1-)|Cl-|Chlorine anion|Cl(-)|chloride(1-)|CHLORIDE ION|Chloride ion MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 biolink:Disease mondo OMIM:614849 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene. http://identifiers.org/omim/614849 http://purl.obolibrary.org/obo/MONDO_0013920 TRAF3 herpes simplex encephalitis|herpes simplex encephalitis, susceptibility to, 3|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5; IIAE5|herpes simplex encephalitis caused by mutation in TRAF3|encephalopathy, acute, infection-induced, susceptibility to, 5|IIAE5|Herpes simplex encephalitis, susceptibility to, type 3|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5 predisposition CHEBI:17997 dinitrogen biolink:ChemicalSubstance mondo An elemental molecule consisting of two trivalently-bonded nitrogen atoms. http://purl.obolibrary.org/obo/CHEBI_17997 dinitrogen|N2|Nitrogen|molecular nitrogen|N#N MONDO:0001947 suppurative thyroiditis biolink:Disease mondo MESH:D013969|SCTID:25476006|DOID:14350|EFO:1001431|UMLS:C0040150|ICD10:E06.0|NCIT:C129724 Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis. SNOMEDCT:25476006|DOID:14350|NCIT:C129724|MESH:D013969|UMLS:C0040150 http://purl.obolibrary.org/obo/MONDO_0001947 abscess of thyroid|suppurative thyroiditis|acute suppurative thyroiditis|infectious thyroiditis MONDO:0001946 hyperestrogenism biolink:Disease mondo SCTID:37295009|ICD9:256.0|COHD:200677|UMLS:C0154209|EFO:0009004|DOID:14336|ICD10:E28.0 Abnormally high level of estrogen. DOID:14336|SNOMEDCT:37295009|NCIT:C113344|UMLS:C0154209 http://purl.obolibrary.org/obo/MONDO_0001946 hyperestrogenism|estrogen Excess MONDO:0001945 postencephalitic Parkinson disease biolink:Disease mondo NCIT:C34898|MESH:D010301|Orphanet:97349|UMLS:C0030568|SCTID:19972008|DOID:14332|ICD10:G21.3|EFO:1001402 A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism. UMLS:C0030568|DOID:14332|ORPHA:97349|NCIT:C34898|MESH:D010301|SNOMEDCT:19972008 http://purl.obolibrary.org/obo/MONDO_0001945 postencephalitic parkinsonism|postencephalitic Parkinsonism ordo_disease MONDO:0001944 mixed malaria biolink:Disease mondo UMLS:C0153121|ICD9:084.5|SCTID:21070001|DOID:14325 A malaria that involves infection with more than one species of Plasmodium at the same time. DOID:14325|UMLS:C0153121|SNOMEDCT:21070001 http://purl.obolibrary.org/obo/MONDO_0001944 malaria by more than one parasite|malaria fever by more than one parasite NCBITaxon:52564 Oesophagostomum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_52564 MONDO:0001949 acute thyroiditis biolink:Disease mondo DOID:14353|ICD10:E06.0|UMLS:C0001360|COHD:133737|SCTID:190293001|ICD9:245.0 Acute form of thyroiditis (disease). SNOMEDCT:190293001|UMLS:C0001360|DOID:14353 http://purl.obolibrary.org/obo/MONDO_0001949 thyroiditis (disease), acute|acute thyroiditis (disease) MONDO:0001948 Riedel's fibrosing thyroiditis biolink:Disease mondo NCIT:C35827|DOID:14351|UMLS:C1335787 An inflammatory disorder of unknown etiology that affects the thyroid gland. It is characterized by extensive fibrosis of the thyroid parenchyma. The fibrosis extends beyond the thyroid gland capsule to the adjacent structures. NCIT:C35827|DOID:14351|UMLS:C1335787 http://purl.obolibrary.org/obo/MONDO_0001948 Riedel fibrosing thyroiditis|Riedel thyroiditis UBERON:0007148 lumen of hindgut biolink:AnatomicalEntity mondo An anatomical cavity that surrounded_by a hindgut. http://purl.obolibrary.org/obo/UBERON_0007148 hindgut lumen RO:0009001 has substance added biolink:OntologyClass mondo "has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time. http://purl.obolibrary.org/obo/RO_0009001 CL:0000484 connective tissue type mast cell biolink:Cell mondo Mast cell subtype whose granules contain both the serine proteases tryptase and chymase. These cells are primarily found in connective tissue, such as the peritoneal cavity, skin, and intestinal submucosa. Their development is T-cell independent. http://purl.obolibrary.org/obo/CL_0000484 MC(TC)|TC mast cells|MCTC NCBITaxon:469 Acinetobacter organism taxon mondo PMID:9336926|PMID:9226915|PMID:8934907|GC_ID:11|PMID:7520730|PMID:10028249 http://purl.obolibrary.org/obo/NCBITaxon_469 NCBITaxon:468 Moraxellaceae organism taxon mondo GC_ID:11|PMID:9542079 http://purl.obolibrary.org/obo/NCBITaxon_468 Acinetobacteraceae|Branhamaceae ENVO:02000099 coal dust biolink:OntologyClass mondo Dust which is derived from coal. http://purl.obolibrary.org/obo/ENVO_02000099 UBERON:0010801 calcaneum pre-cartilage condensation biolink:AnatomicalEntity mondo A calcaneum endochondral element that is composed primarily of a pre-cartilage condensation. http://purl.obolibrary.org/obo/UBERON_0010801 calcaneous pre-cartilage condensation CL:0000499 stromal cell biolink:Cell mondo BTO:0002064|FMA:83624 A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. http://purl.obolibrary.org/obo/CL_0000499 ENVO:02000091 coal biolink:OntologyClass mondo A combustible black or brownish-black sedimentary rock usually occurring in rock strata in layers or veins called coal beds or coal seams. http://purl.obolibrary.org/obo/ENVO_02000091 CL:0000492 CD4-positive helper T cell biolink:Cell mondo CALOHA:TS-1146|FMA:70572 A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions. http://purl.obolibrary.org/obo/CL_0000492 CD4-positive helper T-cell|CD4-positive helper T lymphocyte|CD4-positive T-helper cell|CD4-positive helper T-lymphocyte NCBITaxon:5693 Trypanosoma cruzi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5693 NCBITaxon:5691 Trypanosoma brucei organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5691 Trypanosoma brucei subgroup|Trypanosoma (Trypanozoon) brucei NCBITaxon:5690 Trypanosoma organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5690 NCBITaxon:487 Neisseria meningitidis organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_487 Micrococcus intracellularis|Micrococcus meningitidis cerebrospinalis|Micrococcus meningitidis|Neisseria weichselbaumii|Diplokokkus intracellularis meningitidis NCBITaxon:485 Neisseria gonorrhoeae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_485 Micrococcus gonorrhoeae|Gonococcus neisseri|Micrococcus gonococcus|Micrococcus der gonorrhoe|Diplococcus gonorrhoeae|Merismopedia gonorrhoeae CL:0000473 defensive cell biolink:Cell mondo A cell whose primary function is to protect the organism. http://purl.obolibrary.org/obo/CL_0000473 NCBITaxon:482 Neisseria organism taxon mondo PMID:7520730|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_482 Gonococcus|"Merismopedia" Zopf 1885 NCBITaxon:481 Neisseriaceae organism taxon mondo PMID:23575986|PMID:13983561|PMID:16350128|PMID:8347509|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_481 Vitreoscillaceae CL:0000447 carbohydrate secreting cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000447 UBERON:0010854 skin of front of neck biolink:AnatomicalEntity mondo A skin of neck that is part of a throat. http://purl.obolibrary.org/obo/UBERON_0010854 skin of anterior portion of neck|skin of anterior part of neck|skin of throat|skin of anterior neck UBERON:0007213 mesenchyme derived from head neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a cranial neural crest. http://purl.obolibrary.org/obo/UBERON_0007213 head mesenchyme from cranial neural crest|head neural crest derived mesenchyme|head mesenchyme from neural crest UBERON:0009877 metapodium region biolink:AnatomicalEntity mondo Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region http://purl.obolibrary.org/obo/UBERON_0009877 cannon region|metapodium|metacarpus/metatarsus|metacarpal or metatarsal part of limb|metapodial segment|metacarpus/metatarsus region|equine cannon region UBERON:0009878 mesopodial skeleton biolink:AnatomicalEntity mondo The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton http://purl.obolibrary.org/obo/UBERON_0009878 skeletal parts of mesopodium|mesopodium skeleton|basipodium|basipodium skeleton|mesopodium|carpal/tarsal skeleton|mesopodial skeleton UBERON:0010852 fibula pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that has the potential to develop into a fibula. http://purl.obolibrary.org/obo/UBERON_0010852 fibulal pre-cartilage condensation|fibular pre-cartilage condensation UBERON:0009879 tarsal skeleton biolink:AnatomicalEntity mondo Subdivision of skeleton that consists of endochondral elements distal to the zeugopodial skeletal elements which constitute the proximal region of the posterior autopod skeleton[PHENOSCAPE:ad]. http://purl.obolibrary.org/obo/UBERON_0009879 hind mesopodial skeleton|tarsalia|basipodium|mesopodium|tarsal bones set|hind mesopodium|tarsus|skeletal parts of hind mesopodium|hind mesopodium skeleton|set of tarsal bones|tarsal bones CL:0000442 follicular dendritic cell biolink:Cell mondo FMA:83037|BTO:0004267 A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response. http://purl.obolibrary.org/obo/CL_0000442 CL:0000443 calcitonin secreting cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000443 UBERON:0009870 zone of stomach biolink:AnatomicalEntity mondo A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. http://purl.obolibrary.org/obo/UBERON_0009870 gastric zone|region of stomach|section of stomach UBERON:0009871 nephrogenic zone biolink:AnatomicalEntity mondo outer portion of the renal cortex. Site of formation of medullary and cortical elements. http://purl.obolibrary.org/obo/UBERON_0009871 nephrogenic tissue UBERON:0007214 mesenchyme derived from trunk neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from a trunk neural crest. http://purl.obolibrary.org/obo/UBERON_0007214 trunk mesenchyme from neural crest|trunk neural crest derived mesenchyme ENVO:00002297 obsolete environmental feature biolink:OntologyClass mondo OBSOLETE A material entity which determines an environmental system. http://purl.obolibrary.org/obo/ENVO_00002297 CL:0000457 biogenic amine secreting cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0000457 CL:0000458 serotonin secreting cell biolink:Cell mondo A cell type that secretes 5-Hydroxytryptamine (serotonin). http://purl.obolibrary.org/obo/CL_0000458 5-Hydroxytryptamine secreting cell|5-HT secreting cell UBERON:0010850 tibia pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that has the potential to develop into a tibia. http://purl.obolibrary.org/obo/UBERON_0010850 UBERON:0010851 fibula cartilage element biolink:AnatomicalEntity mondo A cartilaginous condensation that has the potential to develop into a fibula. http://purl.obolibrary.org/obo/UBERON_0010851 fibular cartilage condensation|fibulra cartilage condensation|fibulal cartilage condensation CL:0000451 dendritic cell biolink:Cell mondo CALOHA:TS-0194|FMA:83036|BTO:0002042 A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). http://purl.obolibrary.org/obo/CL_0000451 interdigitating cell|veiled cell UBERON:0010842 calcaneum cartilage element biolink:AnatomicalEntity mondo A calcaneum endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010842 calcaneous cartilage element CL:0000453 Langerhans cell biolink:Cell mondo FMA:63072|CALOHA:TS-2375|BTO:0000705 Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus. http://purl.obolibrary.org/obo/CL_0000453 LC|Langerhans' cell UBERON:0010847 ulna pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that has the potential to develop into a ulna. http://purl.obolibrary.org/obo/UBERON_0010847 UBERON:0010848 radius-ulna cartilage element biolink:AnatomicalEntity mondo A radius-ulna endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010848 radio-ulna cartilage condensation UBERON:0010846 radius pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that has the potential to develop into a radius bone. http://purl.obolibrary.org/obo/UBERON_0010846 UBERON:0010849 tibia cartilage element biolink:AnatomicalEntity mondo A cartilaginous condensation that has the potential to develop into a tibia. http://purl.obolibrary.org/obo/UBERON_0010849 UBERON:0007204 brachiocephalic vasculature biolink:AnatomicalEntity mondo The vasculature consisting of brachiocephalic arteries and veins. http://purl.obolibrary.org/obo/UBERON_0007204 CHEBI:52214 ligand biolink:ChemicalSubstance mondo Any molecule or ion capable of binding to a central metal atom to form coordination complexes. http://purl.obolibrary.org/obo/CHEBI_52214 ligands ENVO:00002264 waste material biolink:OntologyClass mondo A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process). http://purl.obolibrary.org/obo/ENVO_00002264 GO:0052548 regulation of endopeptidase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. http://purl.obolibrary.org/obo/GO_0052548 protease regulator activity CHEBI:52217 pharmaceutical biolink:ChemicalSubstance mondo Any substance introduced into a living organism with therapeutic or diagnostic purpose. http://purl.obolibrary.org/obo/CHEBI_52217 medicament|farmaco|pharmaceuticals GO:0052547 regulation of peptidase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. http://purl.obolibrary.org/obo/GO_0052547 peptidase regulator activity UBERON:0009854 digestive tract diverticulum biolink:AnatomicalEntity mondo Branch or outpocketing of the digestive tract. http://purl.obolibrary.org/obo/UBERON_0009854 intestinal pouch|diverticulum of gut UBERON:0009856 sac biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009856 pouch|diverticulum HGNC:5401 SP110 biolink:OntologyClass mondo http://identifiers.org/hgnc/5401 CHEBI:52210 pharmacological role biolink:ChemicalSubstance mondo A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. http://purl.obolibrary.org/obo/CHEBI_52210 CHEBI:52211 physiological role biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_52211 UBERON:0009853 body of uterus biolink:AnatomicalEntity mondo The part of the uterus above the isthmus and below the orifices of the uterine tubes. http://purl.obolibrary.org/obo/UBERON_0009853 uterine body|corpus uteri|uterine corpus CHEBI:52208 biophysical role biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_52208 CHEBI:52209 aetiopathogenetic role biolink:ChemicalSubstance mondo A role played by the molecular entity or part thereof which causes the development of a pathological process. http://purl.obolibrary.org/obo/CHEBI_52209 etiopathogenetic agent|etiopathogenetic role UBERON:5002389 manual digit plus metapodial segment biolink:AnatomicalEntity mondo A subdivision of the autopod consisting of manual digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_5002389 manual digit digitopodial subdivision|manual digit ( phalanges plus metapodial) plus soft tissue|manual digit|manual digit ray CHEBI:52206 biochemical role biolink:ChemicalSubstance mondo A biological role played by the molecular entity or part thereof within a biochemical context. http://purl.obolibrary.org/obo/CHEBI_52206 UBERON:0009843 prostate epithelial cord biolink:AnatomicalEntity mondo A solid cord of prostate epithelium. http://purl.obolibrary.org/obo/UBERON_0009843 epithelial cord of prostate|cord of prostate epithelium UBERON:0009844 urogenital sinus lumen biolink:AnatomicalEntity mondo An anatomical space that surrounded_by a primitive urogenital sinus. http://purl.obolibrary.org/obo/UBERON_0009844 UBERON:0009845 urogenital sinus mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that surrounds primitive urogenital sinus. http://purl.obolibrary.org/obo/UBERON_0009845 UGM UBERON:0009846 embryonic cloacal epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a embryonic cloaca. http://purl.obolibrary.org/obo/UBERON_0009846 cloacal epithelium UBERON:0009847 prostate field biolink:AnatomicalEntity mondo A specific region of the urogenital sinus epithelium into the area in which the prostate gland will develop. http://purl.obolibrary.org/obo/UBERON_0009847 prostate primordium HGNC:5414 IFITM3 biolink:OntologyClass mondo http://identifiers.org/hgnc/5414 UBERON:0009842 glandular acinus biolink:AnatomicalEntity mondo The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. http://purl.obolibrary.org/obo/UBERON_0009842 acini|acinus NCBITaxon:134362 Capnodiales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_134362 ENVO:01000032 neritic pelagic zone biome biolink:OntologyClass mondo The neritic epipelagic zone biome comprises the marine water column above a continental shelf. http://purl.obolibrary.org/obo/ENVO_01000032 ENVO:01000033 oceanic pelagic zone biome biolink:OntologyClass mondo The oceanic epipelagic zone biome comprises the marine water column offshore, beyond a continental shelf. http://purl.obolibrary.org/obo/ENVO_01000033 ENVO:01000034 oceanic sea surface microlayer biome biolink:OntologyClass mondo The oceanic sea surface microlayer (SML) biome comprises the top 1000 micrometers of the marine surface waters occurring offshore, away from a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath. http://purl.obolibrary.org/obo/ENVO_01000034 MONDO:0023388 pityriasis rotunda biolink:Disease mondo GARD:0010904|UMLS:C0343060|SCTID:238639005 Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda. SNOMEDCT:238639005|UMLS:C0343060 http://purl.obolibrary.org/obo/MONDO_0023388 Pityriasis rotunda gard_rare HP:0009064 Generalized lipodystrophy biolink:PhenotypicFeature mondo UMLS:C0221032|SNOMEDCT_US:284449005|MSH:D052497|SNOMEDCT_US:86907008 Generalized degenerative changes of the fat tissue. http://purl.obolibrary.org/obo/HP_0009064 Generalised lipodystrophy|Lipodystrophy, generalized NCBITaxon:122377 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_122377 ENVO:01000023 marine pelagic biome biolink:OntologyClass mondo The marine pelagic biome (pelagic meaning open sea) is that of the marine water column, from the surface to the greatest depths. http://purl.obolibrary.org/obo/ENVO_01000023 NCBITaxon:555406 Archamoebae organism taxon mondo PMID:23020233|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_555406 NCBITaxon:555407 Centramoebida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_555407 NCBITaxon:122378 Penaeus schmitti organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_122378 Litopenaeus schmitti|white shrimp|Penaeus (Litopenaeus) schmitti MONDO:0023370 neoplastic disease or syndrome biolink:Disease mondo Either an isolated neoplasm or a syndrome with neoplasm as a major feature. http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disorder|neoplastic disease MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy biolink:Disease mondo GARD:0012372|OMIM:604121|DOID:0050968|Orphanet:314404|UMLS:CN203753 Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. DOID:0050968|ORPHA:314404|http://identifiers.org/omim/604121|UMLS:CN203753 http://purl.obolibrary.org/obo/MONDO_0011397 autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome|ADCADN|autosomal dominant cerebellar ataxia, deafness, and narcolepsy|cerebellar ataxia, deafness, and narcolepsy, autosomal dominant|ADCA-DN syndrome|ADCA-DN|cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; ADCADN gard_rare|ordo_disease MONDO:0011396 keratoderma hereditarium mutilans with ichthyosis biolink:Disease mondo MESH:C565826|ICD10:Q82.8|OMIM:604117|SCTID:717183001|Orphanet:79395|UMLS:C1858805 Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission. ORPHA:79395|MESH:C565826|http://identifiers.org/omim/604117|UMLS:C1858805|SNOMEDCT:717183001 http://purl.obolibrary.org/obo/MONDO_0011396 keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome|Camisa disease|mutilating keratoderma with ichthyosis|Vohwinkel syndrome, variant form|Loricrin keratoderma|Vohwinkel syndrome with ichthyosis ordo_disease MONDO:0011399 alpha thalassemia biolink:Disease mondo ICD10:D56.0|DOID:1099|ICD9:282.49|MESH:D017085|MedDRA:10043390|ICD9:282.43|OMIM:604131|UMLS:C0002312|NCIT:C34368|GARD:0000621|Orphanet:846|COHD:4287844|SCTID:68913001 Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. ORPHA:846|http://identifiers.org/omim/604131|DOID:1099|MESH:D017085|MEDDRA:10043390|UMLS:C1456873|SNOMEDCT:68913001|UMLS:C0002312|NCIT:C34368 http://purl.obolibrary.org/obo/MONDO_0011399 A-thalassemia|alpha-thalassemia|Alpha thalassaemia ordo_disease MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa biolink:Disease mondo MESH:C563192|UMLS:C1275114|Orphanet:89843|SCTID:403810008|OMIM:604129|ICD10:Q81.2|ICD9:757.39 Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus. UMLS:C1275114|MESH:C563192|http://identifiers.org/omim/604129|SNOMEDCT:403810008|ORPHA:89843 http://purl.obolibrary.org/obo/MONDO_0011398 pruriginous dystrophic epidermolysis bullosa|Deb, pruriginosa|DEB-Pr|epidermolysis bullosa pruriginosa|DEB, pruriginosa|dystrophic epidermolysis bullosa pruriginosa ordo_disease CHEBI:78840 olefinic compound biolink:ChemicalSubstance mondo Any organic molecular entity that contains at least one C=C bond. http://purl.obolibrary.org/obo/CHEBI_78840 olefinic compounds MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts biolink:Disease mondo ICD10:E75.2|UMLS:CN176898|MESH:C536141|SCTID:703536004|DOID:0080315|GARD:0003445|Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. ORPHA:2478|DOID:0080315|MESH:C536141|SNOMEDCT:703536004|UMLS:CN176898 http://purl.obolibrary.org/obo/MONDO_0011391 megalencephaly-cystic leukodystrophy|megalencephalic leukodystrophy|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|megalencephalic leukoencephalopathy with subcortical cysts 1|MLC|MLC1|megalencephalic leukoencephalopathy with subcortical cysts type 1|Van der Knaap syndrome|megalencephaly-cystic leukodystrophy syndrome ordo_disease|gard_rare MONDO:0011390 focal segmental glomerulosclerosis 2 biolink:Disease mondo UMLS:C1858915|ICD10:N04.1|OMIM:603965|MESH:C565831|DOID:0111129 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene. http://identifiers.org/omim/603965|UMLS:C1858915|DOID:0111129|MESH:C565831 http://purl.obolibrary.org/obo/MONDO_0011390 focal segmental glomerulosclerosis type 2|focal segmental glomerulosclerosis caused by mutation in TRPC6|glomerulosclerosis, focal segmental, 2|focal segmental glomerulosclerosis 2|TRPC6 focal segmental glomerulosclerosis|FSGS2|focal segmental glomerulosclerosis 2; FSGS2 MONDO:0011393 hypoalphalipoproteinemia, primary, 1 biolink:Disease mondo OMIM:604091|GARD:0002872 Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene. http://identifiers.org/omim/604091 http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary|HDLD|FHD|hypoalphalipoproteinemia, familial|FHA|hypoalphalipoproteinemia, familial|HDL cholesterol, Low serum|high density lipoprotein deficiency|familial HDL deficiency MONDO:0011392 autosomal recessive nonsyndromic deafness 20 biolink:Disease mondo DOID:0110478|MESH:C565828|ICD10:H90.3|OMIM:604060|UMLS:C1858840 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter. UMLS:C1858840|MESH:C565828|http://identifiers.org/omim/604060|DOID:0110478 http://purl.obolibrary.org/obo/MONDO_0011392 DFNB20|autosomal recessive deafness 20|autosomal recessive nonsyndromic deafness type 20|deafness, autosomal recessive 20|deafness, autosomal recessive 20; DFNB20 MONDO:0011395 cone-rod dystrophy 3 biolink:Disease mondo OMIM:604116|MESH:C565827|DOID:0111013|GARD:0010653|UMLS:C1858806 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene. MESH:C565827|http://identifiers.org/omim/604116|UMLS:C1858806|DOID:0111013 http://purl.obolibrary.org/obo/MONDO_0011395 cone-rod dystrophy 3; CORD3|cone-rod dystrophy caused by mutation in ABCA4|cone-rod dystrophy 3|cone-rod dystrophy type 3|CORD3|ABCA4 cone-rod dystrophy gard_rare MONDO:0011394 obsolete keratosis pilaris atrophicans biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011394 MONDO:0023368 Ho-Kaufman-McAlister syndrome biolink:Disease mondo UMLS:C2931819|GARD:0001266|MESH:C538325 Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet UMLS:C2931819|MESH:C538325 http://purl.obolibrary.org/obo/MONDO_0023368 cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet|Ho Kaufman McAlister syndrome gard_rare MONDO:0023369 disease of facial skeleton biolink:Disease mondo A disease that involves the facial skeleton. http://purl.obolibrary.org/obo/MONDO_0023369 facial skeleton disease|disorder of facial skeleton|disease or disorder of facial skeleton|facial skeleton disease or disorder|disease of facial skeleton|maxillo-facial disease|maxillofacial anomaly|disorder of facial skeleton ENVO:01000048 ocean biome biolink:OntologyClass mondo A marine biome which is determined by an ocean. http://purl.obolibrary.org/obo/ENVO_01000048 MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 biolink:Disease mondo OMIM:603933 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene. http://identifiers.org/omim/603933 http://purl.obolibrary.org/obo/MONDO_0011386 microvascular complications of diabetes, susceptibility to, 1; MVCD1|microvascular complications of diabetes, susceptibility to, 1|microvascular complications of diabetes, protection against|microvascular complications of diabetes, susceptibility to|proliferative retinopathy, diabetic, susceptibility to|nephropathy, diabetic, susceptibility to|VEGFA microvascular complications of diabetes, susceptibility|neuropathy, diabetic, susceptibility to|nonproliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in VEGFA|microvascular complications of diabetes, susceptibility to, type 1|MVCD1|end-stage renal disease, diabetic, susceptibility to predisposition MONDO:0011385 intervertebral disc degenerative disorder biolink:Disease mondo MESH:D055959|COHD:80816|DOID:90|SCTID:77547008|ICD9:722.6|NCIT:C26983|UMLS:C0158266 Any disease of a degenerative nature that affects the intervertebral disc. DOID:90|NCIT:C26983|SNOMEDCT:77547008|UMLS:C0158266|MESH:D055959 http://purl.obolibrary.org/obo/MONDO_0011385 degenerative disc disease|intervertebral Disc degenerative disease|intervertebral disc degeneration|vertebral Disc degenerative disease|degenerative disorder of intervertebral disk|vertebral disc disease|vertebral Disc degenerative disorder|intervertebral Disc degenerative disorder|intervertebral disc disease|cervical disc degenerative disease|IDD|intervertebral Disc Degeneration|intervertebral disc disease; IDD|intervertebral disk degenerative disorder|lumbar disc degeneration MONDO:0011388 obsolete cervical cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0011388 cervical cancer MONDO:0011387 PSORS4 biolink:Disease mondo OMIM:603935 http://identifiers.org/omim/603935 http://purl.obolibrary.org/obo/MONDO_0011387 psoriasis 4, susceptibility to; PSORS4|PSORS4|psoriasis 4, susceptibility to MONDO:0011389 autosomal dominant nonsyndromic deafness 16 biolink:Disease mondo DOID:0110547|UMLS:C1858916|MESH:C565832|OMIM:603964|ICD10:H90.3 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3. MESH:C565832|DOID:0110547|http://identifiers.org/omim/603964|UMLS:C1858916 http://purl.obolibrary.org/obo/MONDO_0011389 DFNA16|autosomal dominant nonsyndromic deafness type 16|autosomal dominant deafness 16|deafness, autosomal dominant 16; DFNA16|deafness, autosomal dominant 16 NCBITaxon:122354 Mansonella ozzardi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_122354 Mansonella (Mansonella) ozzardi MONDO:0011380 leukoencephalopathy with vanishing white matter biolink:Disease mondo SCTID:447351004|OMIM:603896|UMLS:CN199219|GARD:0000231|ICD10:E75.2|NCIT:C122664|DOID:0060868|UMLS:C1858991|Orphanet:135 A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect. UMLS:C2931489|DOID:0060868|http://identifiers.org/omim/603896|NCIT:C122664|UMLS:C1858991|ORPHA:135|MESH:C537420|SNOMEDCT:447351004|UMLS:CN199219 http://purl.obolibrary.org/obo/MONDO_0011380 CACH/VWM syndrome|CACH syndrome|CACH/VWM|vanishing White matter leukodystrophy with ovarian failure|childhood ataxia with diffuse central nervous system hypomyelination|leukoencephalopathy with vanishing white matter|Cree leukoencehalopathy|CACH|vanishing white matter disease|CLE|vanishing White matter leukodystrophy|Cree leukoencephalopathy|myelinosis centralis diffusa|ovarioleukodystrophy|vanishing white matter leukodystrophy|leukoencephalopathy with vanishing WHITE matter; VWM|childhood ataxia with central nervous system hypomyelination/vanishing white matter|childhood ataxia with central nervous system hypomyelinization|VWM|childhood ataxia with central nervous system hypomyelination ordo_disease ENVO:01000044 marine pelagic feature biolink:OntologyClass mondo A prominent or distinctive aspect, quality, or characteristic of environments occurring within the marine water column. http://purl.obolibrary.org/obo/ENVO_01000044 MONDO:0011382 sickle cell anemia biolink:Disease mondo OMIM:603903|Orphanet:232|ICD10:D57.0|GARD:0008614|MedDRA:10040641|ICD9:282.63|NCIT:C34383|ICD9:282.6|EFO:1001797|ICD10:D57.20|ICD9:282.60|DOID:10923|UMLS:C0002895|ICD10:D57.2|ICD10:D57|ICD10:D57.1|MESH:D000755 Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. http://identifiers.org/omim/603903|DOID:10923|UMLS:C0002895|NCIT:C34383|MEDDRA:10040641|ORPHA:232|MESH:D000755 http://purl.obolibrary.org/obo/MONDO_0011382 Hb SC disease|Hemoglobin S disease without crisis|sickle-cell/Hb-C disease without crisis|sickle cell disease|hemoglobin SC disease|sickle cell anemia|Hb-S/Hb-C disease|Hb-SS disease without crisis|Hemoglobin S disease|sickling disorder due to Hemoglobin S|HbS disease|drepanocytosis ordo_disease MONDO:0011381 dominant beta-thalassemia biolink:Disease mondo SCTID:716682000|OMIM:603902|Orphanet:231226|UMLS:C1858990|ICD10:D56.1|MESH:C565834|UMLS:C4274391 Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. MESH:C565834|http://identifiers.org/omim/603902|UMLS:C4274391|ORPHA:231226|SNOMEDCT:716682000|UMLS:C1858990 http://purl.obolibrary.org/obo/MONDO_0011381 inclusion body beta-thalassemia|dyserythropoietic Anemia, congenital, Irish or Weatherall type|BETA-thalassemia, dominant inclusion body type ordo_clinical_subtype OBO:exo.obo#interacts_with interacts_with biolink:OntologyClass mondo http://purl.obolibrary.org/obo/exo.obo#interacts_with MONDO:0011384 hypertension, essential, susceptibility to, 1 biolink:Disease mondo OMIM:603918 http://identifiers.org/omim/603918 http://purl.obolibrary.org/obo/MONDO_0011384 hypertension, essential, susceptibility to, type 1|Hyt1|hypertension, essential, susceptibility to, 1 predisposition MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A biolink:Disease mondo UMLS:C1858968|OMIM:603909|DOID:0110115|MESH:C565833|ICD10:D47.9|UMLS:C1519709|NCIT:C39576 A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. MESH:C565833|UMLS:C1519709|NCIT:C39576|http://identifiers.org/omim/603909|UMLS:C1858968|DOID:0110115 http://purl.obolibrary.org/obo/MONDO_0011383 ALPS2A|autoimmune lymphoproliferative syndrome caused by mutation in CASP10|autoimmune lymphoproliferative syndrome, type IIA; ALPS2A|autoimmune lymphoproliferative syndrome, type 2|ALPS-CASP10|type 2 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 2A|autoimmune lymphoproliferative syndrome type IIA|autoimmune lymphoproliferative syndrome, type IIA|CASP10 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome-CASP10 variant|type 2 ALPS ENVO:01000041 neritic sea surface microlayer biome biolink:OntologyClass mondo The neritic sea surface microlayer (SML) biome comprises the top 1000 micrometers of marine surface waters occurring above a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath. http://purl.obolibrary.org/obo/ENVO_01000041 ENVO:00002202 organically enriched sediment biolink:OntologyClass mondo Chemically-enriched sediment which has increased levels of organic compounds. http://purl.obolibrary.org/obo/ENVO_00002202 CHEBI:76206 xenobiotic metabolite biolink:ChemicalSubstance mondo Any metabolite produced by metabolism of a xenobiotic compound. http://purl.obolibrary.org/obo/CHEBI_76206 xenobiotic metabolites ENVO:00002203 inorganically enriched sediment biolink:OntologyClass mondo Chemically-enriched sediment which has increased levels of inorganic compounds. http://purl.obolibrary.org/obo/ENVO_00002203 ENVO:01000017 sand biolink:OntologyClass mondo A naturally occurring granular material composed of finely divided rock and mineral particles. http://purl.obolibrary.org/obo/ENVO_01000017 ENVO:01000016 silt biolink:OntologyClass mondo Silt is granular material of a size somewhere between sand and clay whose mineral origin is quartz and feldspar. http://purl.obolibrary.org/obo/ENVO_01000016 ENVO:01000010 obsolete abiotic mesoscopic physical object biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_01000010 NCBITaxon:444 Legionellaceae organism taxon mondo PMID:434652|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_444 NCBITaxon:446 Legionella pneumophila organism taxon mondo PMID:434652|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_446 NCBITaxon:445 Legionella organism taxon mondo PMID:9734026|PMID:434652|GC_ID:11|PMID:8573522|PMID:16166707 http://purl.obolibrary.org/obo/NCBITaxon_445 MONDO:0001884 abducens nerve neoplasm biolink:Disease mondo SCTID:126972009|UMLS:C1263898|ICD9:239.7|DOID:14125|NCIT:C5826 A neoplasm involving a abducens nerve. DOID:14125|UMLS:C1263898|SNOMEDCT:126972009|NCIT:C5826 http://purl.obolibrary.org/obo/MONDO_0001884 neoplasm of abducens nerve|abducens nerve tumor|neoplasm of the abducens nerve|VIth cranial nerve tumors|abducens nerve tumors|tumor of the sixth cranial nerve|tumor of sixth cranial nerve|sixth cranial nerve neoplasm|abducens nerve neoplasms|sixth cranial nerve tumors|abducens nerve neoplasm (disease)|tumor of the abducens nerve|neoplasm of the sixth cranial nerve|neoplasm of sixth cranial nerve|sixth cranial nerve tumor|VIth cranial nerve neoplasms|tumor of abducens nerve|sixth cranial nerve neoplasms MONDO:0001883 blue toe syndrome biolink:Disease mondo DOID:14121|UMLS:C0242645|MESH:D018438 A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation. UMLS:C0242645|DOID:14121|MESH:D018438 http://purl.obolibrary.org/obo/MONDO_0001883 MONDO:0001882 bacteriuria (disease) biolink:Disease mondo DOID:1412|UMLS:C0004659|MESH:D001437|CSP:3045-9976|HP:0012461|MedDRA:10004056 The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection. MESH:D001437|DOID:1412|UMLS:C0004659 http://purl.obolibrary.org/obo/MONDO_0001882 bacteriuria HGNC:19042 MASTL biolink:OntologyClass mondo http://identifiers.org/hgnc/19042 MONDO:0001881 toxic shock syndrome biolink:Disease mondo UMLS:C0600327|UMLS:CN204669|ICD10:A48.3|NCIT:C35498|MESH:D012772|ICD9:040.82|COHD:201214|SCTID:18504008|DOID:14115|GARD:0009560|Orphanet:36234 A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria. NCIT:C35498|DOID:14115|MESH:D012772|ORPHA:36234|SNOMEDCT:18504008|UMLS:C0600327|UMLS:CN204669 http://purl.obolibrary.org/obo/MONDO_0001881 TSS|staphylococcal toxic shock syndrome|shock syndrome (TSS), toxic|syndrome (TSS), toxic shock|bacterial TSS|toxic shock|toxic shock syndrome, (TSS)|TSS, toxic shock syndrome|toxic shock syndrome|bacterial toxic-shock syndrome ordo_disease MONDO:0001888 anus lymphoma biolink:Disease mondo NCIT:C5601|UMLS:C1332268|DOID:14139 A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men. UMLS:C1332268|DOID:14139|NCIT:C5601 http://purl.obolibrary.org/obo/MONDO_0001888 lymphoma of the anus|anus lymphoma|lymphoma of anus|primary anal lymphoma|anal lymphoma MONDO:0001887 Allen-Masters syndrome biolink:Disease mondo COHD:193523|DOID:14133|UMLS:C0152079|ICD9:620.6|SCTID:69186005 A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix. DOID:14133|SNOMEDCT:69186005|UMLS:C0152079 http://purl.obolibrary.org/obo/MONDO_0001887 Broad ligament laceration syndrome|Masters-Allen syndrome HGNC:19041 COQ8B biolink:OntologyClass mondo http://identifiers.org/hgnc/19041 MONDO:0001886 midline cystocele biolink:Disease mondo DOID:14131|COHD:4311159|UMLS:C1456248|ICD9:618.01|ICD10:N81.11|SCTID:423633003 DOID:14131|UMLS:C1456248|SNOMEDCT:423633003 http://purl.obolibrary.org/obo/MONDO_0001886 MONDO:0001885 lateral cystocele biolink:Disease mondo UMLS:C2711750|COHD:40480943|DOID:14130|ICD9:618.02|ICD10:N81.12|SCTID:441891001 SNOMEDCT:441891001|DOID:14130|UMLS:C2711750 http://purl.obolibrary.org/obo/MONDO_0001885 MONDO:0011207 xanthomatosis, susceptibility to biolink:Disease mondo OMIM:602247|UMLS:C1865704 UMLS:C1865704|http://identifiers.org/omim/602247 http://purl.obolibrary.org/obo/MONDO_0011207 xanthomatosis, susceptibility to predisposition MONDO:0011206 ventriculomegaly with defects of the radius and kidney biolink:Disease mondo UMLS:C1865780|MESH:C566565|OMIM:602200 UMLS:C1865780|http://identifiers.org/omim/602200|MESH:C566565 http://purl.obolibrary.org/obo/MONDO_0011206 ventriculomegaly with defects of the radius and kidney MONDO:0013868 POROK7 biolink:Disease mondo OMIM:614714 http://identifiers.org/omim/614714 http://purl.obolibrary.org/obo/MONDO_0013868 POROK7|porokeratosis 7, multiple types|porokeratosis 7, multiple types; POROK7|porokeratosis 7, disseminated superficial actinic type; POROK7|porokeratosis 7, disseminated superficial actinic type MONDO:0011209 progeroid facial appearance with hand anomalies biolink:Disease mondo UMLS:C1865699|OMIM:602249|MESH:C566563 UMLS:C1865699|http://identifiers.org/omim/602249|MESH:C566563 http://purl.obolibrary.org/obo/MONDO_0011209 progeroid facial appearance with hand anomalies MONDO:0013869 adenine phosphoribosyltransferase deficiency biolink:Disease mondo Orphanet:976|GARD:0000546|NCIT:C121564|SCTID:124274002|GARD:0010666|ICD10:E79.8|UMLS:C0268120|OMIM:614723|MESH:C538228|DOID:0060350 Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. UMLS:C0268120|http://identifiers.org/omim/614723|MESH:C538228|NCIT:C121564|ORPHA:976|DOID:0060350|SNOMEDCT:124274002 http://purl.obolibrary.org/obo/MONDO_0013869 adenine phosphoribosyltransferase deficiency|nephrolithiasis, Dha|Dihydroxyadeninuria|urolithiasis, 2,8-dihydroxyadenine|2,8-dihydroxyadenine urolithiasis|adenine phosphoribosyltransferase deficiency; APRTD|APRT deficiency|urolithiasis, Dha|APRTD|2,8-dihydroxyadeninuria disease gard_rare|ordo_disease MONDO:0011208 malignant atrophic papulosis biolink:Disease mondo SCTID:400171002|Orphanet:679|GARD:0006249|UMLS:C0221011|OMIM:602248|ICD10:I77.8|ICD9:447.8|NCIT:C84835|MedDRA:10064281|MESH:D054853 Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal. http://identifiers.org/omim/602248|NCIT:C84835|MEDDRA:10064281|ORPHA:679|MESH:D054853|UMLS:C0221011|SNOMEDCT:400171002 http://purl.obolibrary.org/obo/MONDO_0011208 Kohlmeier-Degos disease|Köhlmeier-Degos disease|malignant atrophic papulosis|Kohlmeier-Degos-Delort-Tricort syndrome|papulosis, malignant atrophic|Degos disease|Degos syndrome|papulosis atrophican maligna|atrophic papulosis, malignant|Köhlmeier-Degos-Delort-Tricort syndrome|Degos's malignant atrophic papulosis ordo_disease MONDO:0001880 median rhomboid glossitis biolink:Disease mondo SCTID:7522008|ICD9:529.2|ICD9:750.19|DOID:14111|ICD10:K14.2 SNOMEDCT:7522008|DOID:14111 http://purl.obolibrary.org/obo/MONDO_0001880 persistent tuberculum impar MONDO:0013873 IMAGe syndrome biolink:Disease mondo UMLS:C1846009|Orphanet:85173|DOID:0050885|GARD:0012312|NCIT:C130988|ICD10:Q87.1|SCTID:702384004|ICD9:759.89|OMIM:614732 IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. http://identifiers.org/omim/614732|ORPHA:85173|SNOMEDCT:702384004|DOID:0050885|NCIT:C130988|UMLS:C1846009 http://purl.obolibrary.org/obo/MONDO_0013873 IMAGe syndrome|intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies|intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies|intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities ordo_malformation_syndrome|gard_rare MONDO:0011210 mitochondrial intermembrane space protein Tim12, yeast, homolog of biolink:Disease mondo OMIM:602252 http://identifiers.org/omim/602252 http://purl.obolibrary.org/obo/MONDO_0011210 mitochondrial intermembrane space protein Tim12, yeast, homolog of MONDO:0013874 glucocorticoid deficiency 4 biolink:Disease mondo OMIM:614736|UMLS:C3553587 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene. http://identifiers.org/omim/614736|UMLS:C3553587 http://purl.obolibrary.org/obo/MONDO_0013874 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency|GCCD4|glucocorticoid deficiency 4; GCCD4|familial glucocorticoid deficiency caused by mutation in NNT|NNT familial glucocorticoid deficiency|glucocorticoid deficiency 4|glucocorticoid deficiency type 4|glucocorticoid deficiency 4 with or without mineralocorticoid deficiency; GCCD4 HGNC:5389 IDS biolink:OntologyClass mondo http://identifiers.org/hgnc/5389 MONDO:0013871 Seckel syndrome 6 biolink:Disease mondo DOID:0070006|UMLS:C3553582|OMIM:614728 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene. UMLS:C3553582|DOID:0070006|http://identifiers.org/omim/614728 http://purl.obolibrary.org/obo/MONDO_0013871 Seckel syndrome caused by mutation in CEP63|Seckel syndrome 6; SCKL6|Seckel syndrome type 6|CEP63 Seckel syndrome|Seckel syndrome 6|SCKL6 MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth biolink:Disease mondo UMLS:C1865645|MESH:C566560|OMIM:602340 MESH:C566560|UMLS:C1865645|http://identifiers.org/omim/602340 http://purl.obolibrary.org/obo/MONDO_0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth MONDO:0013872 prostate cancer, hereditary, 2 biolink:Disease mondo UMLS:C3539120|OMIM:614731 Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene. UMLS:C3539120|http://identifiers.org/omim/614731 http://purl.obolibrary.org/obo/MONDO_0013872 ELAC2 familial prostate cancer|HPC2|prostate cancer, hereditary, 2|familial prostate cancer caused by mutation in ELAC2|prostate cancer, hereditary, 2; HPC2|prostate cancer, hereditary, type 2 MONDO:0011211 axial spondylometaphyseal dysplasia biolink:Disease mondo MESH:C535795|UMLS:C1865695|OMIM:602271|GARD:0008720|ICD10:Q77.8|Orphanet:168549 Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion. MESH:C535795|UMLS:C1865695|ORPHA:168549|http://identifiers.org/omim/602271 http://purl.obolibrary.org/obo/MONDO_0011211 SmD axial|spondylometaphyseal dysplasia axial type|SMDAX|spondylometaphyseal dysplasia, axial|SmD, axial|spondylometaphyseal dysplasia, axial; SMDAX|axial SmD ordo_disease|gard_rare MONDO:0011214 progressive familial intrahepatic cholestasis type 3 biolink:Disease mondo Orphanet:79305|UMLS:C1865643|OMIM:602347|DOID:0070223|GARD:0001289|ICD10:K76.8|MESH:C535935 Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. DOID:0070223|ORPHA:79305|MESH:C535935|UMLS:C1865643|http://identifiers.org/omim/602347 http://purl.obolibrary.org/obo/MONDO_0011214 cholestasis, progressive familial intrahepatic, 3|cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase|cholestasis, progressive familial intrahepatic, 3; PFIC3|PFIC3|ABCB4 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 3|progressive familial intrahepatic cholestasis caused by mutation in ABCB4|Mdr3 deficiency gard_rare|ordo_clinical_subtype MONDO:0013877 mitochondrial pyruvate carrier deficiency biolink:Disease mondo OMIM:614741|ICD10:E74.4|Orphanet:447784|UMLS:C3553607 An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation. http://identifiers.org/omim/614741|ORPHA:447784|UMLS:C3553607 http://purl.obolibrary.org/obo/MONDO_0013877 mitochondrial pyruvate carrier deficiency|MPYCD|mitochondrial pyruvate carrier deficiency; MPYCD ordo_disease MONDO:0011213 Pierpont syndrome biolink:Disease mondo Orphanet:487825|MESH:C566559|OMIM:602342|UMLS:C1865644 Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear. MESH:C566559|UMLS:C1865644|ORPHA:487825|http://identifiers.org/omim/602342 http://purl.obolibrary.org/obo/MONDO_0011213 PRPTS|plantar lipomatosis, unusual facies, and developmental delay|PIERPONT syndrome; PRPTS|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome|Pierpont syndrome ordo_malformation_syndrome MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 biolink:Disease mondo UMLS:C3553617|EFO:1001501|OMIM:614742 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene. http://identifiers.org/omim/614742|UMLS:C3553617 http://purl.obolibrary.org/obo/MONDO_0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1|TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1; PFBMFT1|PFBMFT1 MONDO:0011216 hemochromatosis type 2A biolink:Disease mondo OMIM:602390|DOID:0111027 Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene. http://identifiers.org/omim/602390|DOID:0111027 http://purl.obolibrary.org/obo/MONDO_0011216 HJV hemochromatosis type 2|hemochromatosis, juvenile|hemochromatosis, type 2A|hemochromatosis, type 2|hemochromatosis, type 2A; HFE2A|HFE2A|hemochromatosis type 2 caused by mutation in HJV MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome biolink:Disease mondo OMIM:614739|UMLS:C3553597|Orphanet:352328|GARD:0012963|SCTID:711409002|DOID:0110001|ICD10:E71.1 Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene. http://identifiers.org/omim/614739|DOID:0110001|UMLS:C3553597|SNOMEDCT:711409002|ORPHA:352328 http://purl.obolibrary.org/obo/MONDO_0013875 SERAC1 3-methylglutaconic aciduria|3-MGCA type IV (formerly)|MGCA6|MEGDEL|3-MGCA-4 (formerly)|3-Methylglutaconic aciduria, type 6|3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome|3-methylglutaconic aciduria caused by mutation in SERAC1|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome; MEGDEL|3-methylglutaconic aciduria type 6|MEGDEL syndrome|3-methylglutaconic aciduria type VI|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|SERAC1 defect|3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome gard_rare|ordo_disease MONDO:0011215 osteocraniostenosis biolink:Disease mondo ICD10:Q78.0|UMLS:C1865639|SCTID:722109008|GARD:0003396|Orphanet:2763|MESH:C537291|OMIM:602361 Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. http://identifiers.org/omim/602361|SNOMEDCT:722109008|MESH:C537291|ORPHA:2763|UMLS:C1865639 http://purl.obolibrary.org/obo/MONDO_0011215 skeletal dysplasia, lethal, with gracile bones|gracile bone dysplasia; GCLEB|gracile bone dysplasia|Osteocraniosplenic syndrome|Habrodysplasia|skeletal dysplasia lethal with gracile bones|GCLEB|osteocraniostenosis ordo_malformation_syndrome MONDO:0037847 vertebral joint disease biolink:Disease mondo SCTID:372109003 A disease that involves the intervertebral joint. SNOMEDCT:372109003 http://purl.obolibrary.org/obo/MONDO_0037847 intervertebral joint disease or disorder|disorder of intervertebral joint|disease or disorder of intervertebral joint|disorder of intervertebral joint|disease of intervertebral joint|disorder of joint of spine|intervertebral joint disease|spondyloarthropathy MONDO:0013876 basal cell carcinoma, susceptibility to, 7 biolink:Disease mondo OMIM:614740 Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene. http://identifiers.org/omim/614740 http://purl.obolibrary.org/obo/MONDO_0013876 susceptibility to basal cell carcinoma 7|basal cell carcinoma, susceptibility to, 7|basal cell carcinoma, susceptibility to, type 7|basal cell carcinoma, susceptibility to, 7; BCC7|skin basal cell carcinoma caused by mutation in TP53|TP53 skin basal cell carcinoma|BCC7 predisposition MONDO:0001879 anus cancer biolink:Disease mondo NCIT:C7379|GARD:0009300|ICD9:154.3|DOID:14110|ICD9:154.2|ICD10:C21.1|ICD10:C21.0 A malignant neoplasm involving the anus DOID:14110|NCIT:C7379 http://purl.obolibrary.org/obo/MONDO_0001879 malignant neoplasm of anus|anus cancer|malignant anal neoplasm|malignant neoplasm of the anus|malignant anal tumor|malignant anus neoplasm|anal cancer|malignant tumor of anus|cancer of anus|malignant tumor of the anus HGNC:5382 IDH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5382 MONDO:0001878 acquired hypertrophic pyloric stenosis biolink:Disease mondo ICD9:537.0|UMLS:C2937286|COHD:198191|DOID:14099|SCTID:266438007 An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual. UMLS:C2937286|DOID:14099|SNOMEDCT:266438007 http://purl.obolibrary.org/obo/MONDO_0001878 adult hypertrophic pyloric stenosis|acquired gastric outlet stenosis|acquired hypertrophic pyloric stenosis HGNC:5383 IDH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5383 HGNC:19048 ASPM biolink:OntologyClass mondo http://identifiers.org/hgnc/19048 MONDO:0013870 TMEM165-CDG biolink:Disease mondo Orphanet:314667|ICD10:E77.8|UMLS:C3553571|GARD:0012413|DOID:0070263|SCTID:732252005|OMIM:614727 (4q12). ORPHA:314667|UMLS:C3553571|DOID:0070263|SNOMEDCT:732252005|http://identifiers.org/omim/614727 http://purl.obolibrary.org/obo/MONDO_0013870 CDG IIk|carbohydrate deficient glycoprotein syndrome type IIk|CDG-IIk|congenital disorder of glycosylation, type IIk|TMEM165-CDG (CDG-IIk)|congenital disorder of glycosylation type IIk|congenital disorder of glycosylation, type IIk; CDG2K|CDG syndrome type IIk|CDG2K|congenital disorder of glycosylation type 2k ordo_disease HGNC:5385 IDH3B biolink:OntologyClass mondo http://identifiers.org/hgnc/5385 MONDO:0001895 acute retrobulbar neuritis biolink:Disease mondo DOID:14155|ICD9:377.32|UMLS:C0155301|SCTID:51604006 Acute form of retrobulbar neuritis. DOID:14155|UMLS:C0155301|SNOMEDCT:51604006 http://purl.obolibrary.org/obo/MONDO_0001895 retrobulbar neuritis|retrobulbar neuritis (acute)|retrobulbar neuritis, acute MONDO:0001894 spinal cord sarcoma biolink:Disease mondo DOID:14152|UMLS:C1336049|NCIT:C5152 A sarcoma that arises from the spinal cord. DOID:14152|NCIT:C5152|UMLS:C1336049 http://purl.obolibrary.org/obo/MONDO_0001894 spinal cord sarcoma|sarcoma of spinal cord|sarcoma of the spinal cord MONDO:0001893 spinal cord melanoma biolink:Disease mondo DOID:14151|UMLS:C1336045|NCIT:C5158 A melanoma (disease) that involves the spinal cord. DOID:14151|NCIT:C5158|UMLS:C1336045 http://purl.obolibrary.org/obo/MONDO_0001893 melanoma (disease) of spinal cord|melanoma of spinal cord|melanoma of the spinal cord|spinal cord melanoma|spinal cord melanoma (disease) MONDO:0001892 spinal cord lymphoma biolink:Disease mondo DOID:14150|UMLS:C1336044|NCIT:C5157 A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion. DOID:14150|UMLS:C1336044|NCIT:C5157 http://purl.obolibrary.org/obo/MONDO_0001892 spinal cord lymphoma|lymphoma of spinal cord|lymphoma of the spinal cord|spinal cord cancer|primary spinal cord lymphoma MONDO:0001899 rheumatic congestive heart failure biolink:Disease mondo ICD10:I09.81|UMLS:C0155582|COHD:315295|ICD9:398.91|SCTID:82523003|DOID:14172 DOID:14172|UMLS:C0155582|SNOMEDCT:82523003 http://purl.obolibrary.org/obo/MONDO_0001899 rheumatic heart failure (congestive)|rheumatic heart failure|congestive rheumatic heart failure MONDO:0001898 optic choroid disease biolink:Disease mondo ICD10:H31.9|NCIT:C34468|MESH:D015862|UMLS:C0008521|ICD9:363.8|ICD9:363.9|DOID:1417|SCTID:128468007 A disease involving the optic choroid. SNOMEDCT:128468007|MESH:D015862|NCIT:C34468|UMLS:C0008521|DOID:1417 http://purl.obolibrary.org/obo/MONDO_0001898 disorder of optic choroid|choroid disorder|optic choroid disease|disorder of optic choroid|choroid disease|disease or disorder of optic choroid|disease of optic choroid|optic choroid disease or disorder MONDO:0001897 bilateral hyperactive labyrinth biolink:Disease mondo UMLS:C0155516|DOID:14165|ICD9:386.52|SCTID:194373002 SNOMEDCT:194373002|DOID:14165|UMLS:C0155516 http://purl.obolibrary.org/obo/MONDO_0001897 hyperactive labyrinth, bilateral|hyperactive bilateral labyrinthine dysfunction MONDO:0001896 obstructive hydrocephalus biolink:Disease mondo ICD9:331.4|NCIT:C116347|UMLS:C0549423|COHD:440385|SCTID:230746009|DOID:14159|ICD10:G91.1 An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space. SNOMEDCT:230746009|NCIT:C116347|DOID:14159|UMLS:C0549423 http://purl.obolibrary.org/obo/MONDO_0001896 non-communicating hydrocephalus MONDO:0013859 cataract 38 biolink:Disease mondo DOID:0110245|OMIM:614691|ICD10:Q12.0|UMLS:C3553494 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene. UMLS:C3553494|http://identifiers.org/omim/614691|DOID:0110245 http://purl.obolibrary.org/obo/MONDO_0013859 AGK early-onset non-syndromic cataract|cataract 38|cataract, autosomal recessive congenital 5|cataract 38; CTRCT38|early-onset non-syndromic cataract caused by mutation in AGK|CATC5|CTRCT38|autosomal recessive congenital cataract 5|cataract type 38 MONDO:0013857 alar cleft, isolated biolink:Disease mondo OMIM:614687|UMLS:C3553476 http://identifiers.org/omim/614687|UMLS:C3553476 http://purl.obolibrary.org/obo/MONDO_0013857 alar cleft, isolated HP:0000405 Conductive hearing impairment biolink:PhenotypicFeature mondo MSH:D006314|UMLS:C0018777|SNOMEDCT_US:44057004 An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. http://purl.obolibrary.org/obo/HP_0000405 Conductive deafness|Conduction deafness|Hearing loss, conductive|Conductive hearing loss hposlim_core MONDO:0013858 pontine tegmental cap dysplasia biolink:Disease mondo UMLS:C3541340|OMIM:614688|ICD10:Q04.8|GARD:0010919|Orphanet:269229 Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation. ORPHA:269229|http://identifiers.org/omim/614688|UMLS:C3541340 http://purl.obolibrary.org/obo/MONDO_0013858 pontine tegmental cap dysplasia|PTCD|PONTINE tegmental CAP dysplasia; PTCD gard_rare|ordo_morphological_anomaly UBERON:0010498 pseudostratified columnar epithelium biolink:AnatomicalEntity mondo A simple columnar epithelium that looks stratified but is not, because its cells are arranged with their nuclei at different levels. http://purl.obolibrary.org/obo/UBERON_0010498 MONDO:0001891 obsolete malignant anus melanoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001891 HP:0000407 Sensorineural hearing impairment biolink:PhenotypicFeature mondo SNOMEDCT_US:60700002|UMLS:C0018784|MSH:D006319 A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. http://purl.obolibrary.org/obo/HP_0000407 Sensorineural hearing loss|Sensorineural deafness|Hearing loss, sensorineural hposlim_core MONDO:0001890 pulp erosion biolink:Disease mondo ICD9:521.33|DOID:14140 A tooth erosion, non-bacterial that involves the dental pulp. DOID:14140 http://purl.obolibrary.org/obo/MONDO_0001890 dental pulp tooth erosion, non-bacterial|tooth erosion, non-bacterial of dental pulp UBERON:0010499 pseudostratified ciliated columnar epithelium biolink:AnatomicalEntity mondo Epithelium composed of a single layer of cells, appearing as layered because the column-shaped cells vary in height so the nuclei are at different levels. The basal portions of all the cells are in contact with the basement membrane. It lines the respiratory system and the male reproductive tract. The cilia in the respiratory tract are motile, while the stereocilia in the male reproductive tract are immobile. http://purl.obolibrary.org/obo/UBERON_0010499 epithelium pseudostratificatum columnare ciliatum (trachea et bronchi) HGNC:20041 ZNF408 biolink:OntologyClass mondo http://identifiers.org/hgnc/20041 MONDO:0013862 immunodeficiency, common variable, 7 biolink:Disease mondo UMLS:C3542922|OMIM:614699 http://identifiers.org/omim/614699|UMLS:C3542922 http://purl.obolibrary.org/obo/MONDO_0013862 immunodeficiency, common variable, 7|immunodeficiency, common variable, 7; CVID7|CVID7|immunodeficiency, common variable, type 7 MONDO:0013863 combined immunodeficiency due to LRBA deficiency biolink:Disease mondo OMIM:614700|Orphanet:445018|UMLS:C3553512|ICD10:D81.8 http://identifiers.org/omim/614700|ORPHA:445018|UMLS:C3553512 http://purl.obolibrary.org/obo/MONDO_0013863 immunodeficiency, common variable, 8, with autoimmunity|CVID8|Cid due to LRBA deficiency|immunodeficiency, common variable, 8, with autoimmunity; CVID8 ordo_disease MONDO:0013860 idiopathic membranous glomerulonephritis biolink:Disease mondo SCTID:722119002|UMLS:C0086445|OMIM:614692|ICD10:N04.2|NCIT:C123060|Orphanet:97560|GARD:0009180 Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. http://identifiers.org/omim/614692|UMLS:C0086445|SNOMEDCT:722119002|ORPHA:97560|NCIT:C123060 http://purl.obolibrary.org/obo/MONDO_0013860 membranous nephropathy, susceptibility to; MBNP|membranous nephropathy, susceptibility to|Idiopathic membranous glomerulopathy|membranous nephropathy - Idiopathic|Extramembranous glomerulonephritis|idiopathic membranous nephropathy|MGN|glomerulonephritis, membranous|membranous GN|MBNP ordo_disease MONDO:0011201 ETM2 biolink:Disease mondo GARD:0009500|MESH:C536546|OMIM:602134 MESH:C536546|http://identifiers.org/omim/602134 http://purl.obolibrary.org/obo/MONDO_0011201 tremor hereditary essential, 2|tremor, hereditary essential, 2|tremor, hereditary essential, 2; ETM2|ETM2 MONDO:0013861 amyotrophic lateral sclerosis type 17 biolink:Disease mondo UMLS:C1836076|MESH:C563708|OMIM:614696|DOID:0060208 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene. http://identifiers.org/omim/614696|DOID:0060208|UMLS:C1836076|MESH:C563708 http://purl.obolibrary.org/obo/MONDO_0013861 amyotrophic lateral sclerosis, Chmp2B-related|CHMP2B amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 17|amyotrophic lateral sclerosis caused by mutation in CHMP2B|amyotrophic lateral sclerosis type 17|amyotrophic lateral sclerosis 17; ALS17|CHMP2B-related amyotrophic lateral sclerosis|ALS17 MONDO:0011200 torsion dystonia 7 biolink:Disease mondo Orphanet:93963|OMIM:602124|MESH:C566572|DOID:0090040 A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p. ORPHA:93963|MESH:C566572|DOID:0090040|http://identifiers.org/omim/602124 http://purl.obolibrary.org/obo/MONDO_0011200 cervical dystonia, primary|torsion dystonia type 7|DYT7|dystonia 7, torsion; DYT7|torsion dystonia, focal adult-onset|dystonia 7, torsion MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies biolink:Disease mondo OMIM:602196|GARD:0010090|MESH:C535775|UMLS:C1865783 UMLS:C1865783|http://identifiers.org/omim/602196|MESH:C535775 http://purl.obolibrary.org/obo/MONDO_0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies|skeletal dysplasia related to campomelic dysplasia|campomelic dysplasia, mild gard_rare MONDO:0013866 neuronal ceroid lipofuscinosis 11 biolink:Disease mondo Orphanet:314629|UMLS:C3539123|DOID:0110732|OMIM:614706|ICD10:E75.4 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene. http://identifiers.org/omim/614706|UMLS:C3539123|ORPHA:314629|DOID:0110732 http://purl.obolibrary.org/obo/MONDO_0013866 ceroid lipofuscinosis, neuronal, type 11|ceroid lipofuscinosis, neuronal, 11; CLN11|ceroid lipofuscinosis, neuronal, 11|CLN11 disease|CLN11|GRN neuronal ceroid lipofuscinosis|Grn neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in GRN|neuronal ceroid lipofuscinosis caused by mutation in Grn|neuronal ceroid lipofuscinosis type 11 ordo_etiological_subtype MONDO:0013867 brown-Vialetto-van Laere syndrome 2 biolink:Disease mondo OMIM:614707|HGNC:30224|GARD:0012861|UMLS:C3553538 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene. http://identifiers.org/omim/614707|UMLS:C3553538 http://purl.obolibrary.org/obo/MONDO_0013867 BVVLS2|SLC52A2 Brown-Vialetto-van Laere syndrome|Brown-Vialetto-Van Laere syndrome type 2|brown-Vialetto-van Laere syndrome 2|BROWN-Vialetto-VAN Laere syndrome 2; BVVLS2|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2 gard_rare MONDO:0011202 RHYNS syndrome biolink:Disease mondo SCTID:723999009|MESH:C537612|OMIM:602152|GARD:0009681|UMLS:C1865794|Orphanet:140976 RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. SNOMEDCT:723999009|ORPHA:140976|MESH:C537612|UMLS:C1865794|http://identifiers.org/omim/602152 http://purl.obolibrary.org/obo/MONDO_0011202 retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia|retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome|RHYNS syndrome|retinitis pigmentosa syndrome ordo_disease MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency biolink:Disease mondo GARD:0010329|UMLS:C1865781|MESH:C566566|OMIM:602199 http://identifiers.org/omim/602199|UMLS:C1865781|MESH:C566566 http://purl.obolibrary.org/obo/MONDO_0011205 medium chain 3-ketoacyl-Coa thiolase deficiency|Mckat deficiency|medium-chain 3-ketoacyl-coa thiolase deficiency gard_rare MONDO:0013864 Cornelia de Lange syndrome 4 biolink:Disease mondo UMLS:C3553517|OMIM:614701 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene. http://identifiers.org/omim/614701|UMLS:C3553517 http://purl.obolibrary.org/obo/MONDO_0013864 CDLS4|Cornelia de Lange syndrome caused by mutation in RAD21|Cornelia De Lange syndrome type 4|Cornelia DE Lange syndrome 4; CDLS4|Cornelia de Lange syndrome 4|RAD21 Cornelia de Lange syndrome MONDO:0011204 cerebellar degeneration-related autoantigen 3 biolink:Disease mondo OMIM:602197 http://identifiers.org/omim/602197 http://purl.obolibrary.org/obo/MONDO_0011204 cerebellar Degeneration-related autoantigen type 3|cerebellar degeneration-related autoantigen 3|Cdr3 MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency biolink:Disease mondo OMIM:614702|UMLS:C3553529|ICD10:I42.2|Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. http://identifiers.org/omim/614702|ORPHA:314637|UMLS:C3553529 http://purl.obolibrary.org/obo/MONDO_0013865 combined oxidative phosphorylation deficiency 10|cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|combined oxidative phosphorylation defect type 10|MTO1 combined oxidative phosphorylation deficiency|COXPD10|combined oxidative phosphorylation deficiency type 10|combined oxidative phosphorylation deficiency caused by mutation in MTO1|combined oxidative phosphorylation deficiency 10; COXPD10 ordo_disease MONDO:0037858 inherited fatty acid metabolism disorder biolink:Disease mondo SCTID:39929009|NCIT:C117115 A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. NCIT:C117115|SNOMEDCT:39929009 http://purl.obolibrary.org/obo/MONDO_0037858 disorder of fatty acid metabolism|fatty acid metabolism disorder|disorders of fatty-acid metabolism|disorder of fat oxidation HGNC:5391 IDUA biolink:OntologyClass mondo http://identifiers.org/hgnc/5391 MONDO:0001889 ovarian dysfunction biolink:Disease mondo ICD9:256.3|ICD9:256.39|DOID:1414|ICD10:E28|ICD9:256.9|NCIT:C113351|SCTID:37102008|ICD9:256.8|EFO:0009003 The inability of the ovaries to function. NCIT:C113351|DOID:1414|SNOMEDCT:37102008 http://purl.obolibrary.org/obo/MONDO_0001889 ovarian hypofunction|ovarian failure|ovarian insufficiency HGNC:5394 CFI biolink:OntologyClass mondo http://identifiers.org/hgnc/5394 MONDO:0001862 malignant visceral pleura tumor biolink:Disease mondo DOID:14033|SCTID:94140004|UMLS:C0153496 UMLS:C0153496|DOID:14033|SNOMEDCT:94140004 http://purl.obolibrary.org/obo/MONDO_0001862 primary malignant neoplasm of visceral pleura MONDO:0001861 malignant parietal pleura tumor biolink:Disease mondo DOID:14032|SCTID:93948004|UMLS:C0153495 UMLS:C0153495|DOID:14032|SNOMEDCT:93948004 http://purl.obolibrary.org/obo/MONDO_0001861 primary malignant neoplasm of parietal pleura MONDO:0001860 folic acid deficiency anemia biolink:Disease mondo DOID:14026|ICD10:D52|ICD10:D52.9|UMLS:C0151482|ICD9:281.2|SCTID:85649008 UMLS:C0151482|DOID:14026|SNOMEDCT:85649008 http://purl.obolibrary.org/obo/MONDO_0001860 folate-deficiency anemia|folate-deficient megaloblastic anaemia|folate deficiency anemia MONDO:0001866 bipolar I disorder biolink:Disease mondo SCTID:371596008|DOID:14042|ICD9:296.50|COHD:432876|ICD9:296.7 A bipolar disorder that is characterized by at least one manic or mixed episode. DOID:14042|SNOMEDCT:371596008 http://purl.obolibrary.org/obo/MONDO_0001866 bipolar 1 disorder|bipolar I disorder MONDO:0001865 obsolete autoimmune polyendocrinopathy syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001865 MONDO:0001864 residual stage angle-closure glaucoma biolink:Disease mondo DOID:1404|ICD10:H40.24|ICD9:365.24|COHD:436109|SCTID:55129006|UMLS:C0154948 UMLS:C0154948|SNOMEDCT:55129006|DOID:1404 http://purl.obolibrary.org/obo/MONDO_0001864 residual stage of angle-closure glaucoma MONDO:0001863 aorta atresia biolink:Disease mondo ICD9:747.22|DOID:14037|SCTID:204431007|ICD10:Q25.2 An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. DOID:14037|SNOMEDCT:204431007 http://purl.obolibrary.org/obo/MONDO_0001863 congenital atresia and stenosis of aorta|atresia and stenosis of aorta BFO:0000117 has occurrent part biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000117 MONDO:0013848 dilated cardiomyopathy 2B biolink:Disease mondo UMLS:C3553409|DOID:0110441|OMIM:614672|ICD10:I42.0 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene. UMLS:C3553409|http://identifiers.org/omim/614672|DOID:0110441 http://purl.obolibrary.org/obo/MONDO_0013848 cardiomyopathy, dilated, type 2B|GATAD1 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 2B|familial isolated dilated cardiomyopathy caused by mutation in GATAD1|CMD2B|cardiomyopathy, dilated, 2B; CMD2B|dilated cardiomyopathy type 2B MONDO:0013849 microcephaly 8, primary, autosomal recessive biolink:Disease mondo OMIM:614673|DOID:0070282|UMLS:C3553414 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene. UMLS:C3553414|DOID:0070282|http://identifiers.org/omim/614673 http://purl.obolibrary.org/obo/MONDO_0013849 MCPH8|microcephaly 8, primary, autosomal recessive; MCPH8|CEP135 autosomal recessive primary microcephaly|microcephaly 8, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CEP135 MONDO:0013846 peripartum cardiomyopathy, susceptibility to biolink:Disease mondo OMIM:614670 http://identifiers.org/omim/614670 http://purl.obolibrary.org/obo/MONDO_0013846 Ppcm, susceptibility to|peripartum cardiomyopathy, susceptibility to predisposition MONDO:0013847 chromosome 16p11.2 duplication syndrome biolink:Disease mondo SCTID:765142003|Orphanet:370079|OMIM:614671|GARD:0012388|ICD10:Q92.3|UMLS:C3553407|DOID:0060430 Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. DOID:0060430|UMLS:C3553407|ORPHA:370079|http://identifiers.org/omim/614671|SNOMEDCT:765142003 http://purl.obolibrary.org/obo/MONDO_0013847 16p11.2 duplication|AUTS14B|16p11.2 microduplication|proximal trisomy 16p11.2|susceptibility to autism, 14B|autism, susceptibility to, 14B|chromosome 16p11.2 duplication syndrome|proximal 16p11.2 microduplication syndrome|proximal dup(16)(p11.2)|16p11.2 duplication syndrome ordo_malformation_syndrome|predisposition NCBITaxon:27872 Xiphidiata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_27872 NCBITaxon:27871 Plagiorchiida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_27871 MONDO:0013851 autosomal dominant aplasia and myelodysplasia biolink:Disease mondo ICD10:D61.0|Orphanet:314399|OMIM:614675|UMLS:C3808553|UMLS:CN203751 http://identifiers.org/omim/614675|UMLS:CN203751|ORPHA:314399|UMLS:C3808553 http://purl.obolibrary.org/obo/MONDO_0013851 bone marrow failure syndrome 1|autosomal dominant aplastic anemia and myelodysplasia|bone marrow failure syndrome 1; BMFS1|bone marrow failure syndrome type 1|BMFS1 ordo_disease MONDO:0013852 hypertrophic cardiomyopathy 21 biolink:Disease mondo OMIM:614676|UMLS:C3553442|DOID:0110311 A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation. http://identifiers.org/omim/614676|DOID:0110311|UMLS:C3553442 http://purl.obolibrary.org/obo/MONDO_0013852 cardiomyopathy, familial hypertrophic, 21|hypertrophic cardiomyopathy type 21|cardiomyopathy familial hypertrophic 21|cardiomyopathy, familial hypertrophic, 21; CMH21|CMH21 MONDO:0013850 obsolete periodic fever, menstrual cycle-dependent biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013850 MONDO:0013855 influenza, severe, susceptibility to biolink:Disease mondo OMIM:614680 http://identifiers.org/omim/614680 http://purl.obolibrary.org/obo/MONDO_0013855 influenza, severe, susceptibility to|susceptibility to severe influenza predisposition MONDO:0013856 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes biolink:Disease mondo UMLS:C3553465|OMIM:614684 http://identifiers.org/omim/614684|UMLS:C3553465 http://purl.obolibrary.org/obo/MONDO_0013856 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes|hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes MONDO:0013853 pontocerebellar hypoplasia type 1B biolink:Disease mondo OMIM:614678|UMLS:C3553449|DOID:0060266 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene. http://identifiers.org/omim/614678|DOID:0060266|UMLS:C3553449 http://purl.obolibrary.org/obo/MONDO_0013853 pontocerebellar hypoplasia, type 1B; PCH1B|pontocerebellar hypoplasia, type 1B|PCH1B|non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3|EXOSC3 non-syndromic pontocerebellar hypoplasia MONDO:0013854 primary ciliary dyskinesia 17 biolink:Disease mondo UMLS:C3542550|OMIM:614679|ICD10:Q34.8|DOID:0110621 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene. http://identifiers.org/omim/614679|UMLS:C3542550|DOID:0110621 http://purl.obolibrary.org/obo/MONDO_0013854 CCDC103 primary ciliary dyskinesia|CILD17|ciliary dyskinesia, primary, 17|ciliary dyskinesia, primary, 17; CILD17|ciliary dyskinesia, primary, 17, with or without situs inversus|primary ciliary dyskinesia type 17|primary ciliary dyskinesia 17 with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC103|ciliary dyskinesia, primary, type 17 UBERON:0009494 pharyngeal arch mesenchymal region biolink:AnatomicalEntity mondo A portion of mesenchymal tissue associated with an individual pharyngeal arch. http://purl.obolibrary.org/obo/UBERON_0009494 pharyngeal arch mesenchyme|branchial arch mesenchyme MONDO:0001859 algoneurodystrophy biolink:Disease mondo ICD10:M89.00|DOID:14022|ICD9:733.7|ICD10:M89.0 DOID:14022 http://purl.obolibrary.org/obo/MONDO_0001859 MONDO:0001858 Tietze syndrome biolink:Disease mondo SCTID:30128009|GARD:0010100|COHD:134461|MESH:D013991|ICD10:M94.0|ICD9:733.6|UMLS:C0040213|DOID:14021 Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. (Dorland, 27th ed.) SNOMEDCT:30128009|DOID:14021|MESH:D013991|UMLS:C0040213 http://purl.obolibrary.org/obo/MONDO_0001858 Tietze syndrome|Tietze's disease|Costalchondritis|costochondral junction syndrome|costochondral joint syndromic disease|Tietze's syndrome|syndromic disease of costochondral joint|Costochondritis|slipping rib syndrome|Chondropathia tuberosa MONDO:0001857 Brucella canis brucellosis biolink:Disease mondo ICD9:023.3|SCTID:428174001|DOID:14019|ICD10:A23.3|UMLS:C0494040 A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly. UMLS:C0494040|DOID:14019|SNOMEDCT:428174001 http://purl.obolibrary.org/obo/MONDO_0001857 MONDO:0001856 splenic artery aneurysm biolink:Disease mondo UMLS:C0155747|ICD9:442.83|DOID:14006|COHD:194964|SCTID:70405009 UMLS:C0155747|SNOMEDCT:70405009|DOID:14006 http://purl.obolibrary.org/obo/MONDO_0001856 UBERON:0009497 epithelium of foregut-midgut junction biolink:AnatomicalEntity mondo An epithelium that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/UBERON_0009497 ECTO:0500000 exposure to manufactured product biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to manufactured product. http://purl.obolibrary.org/obo/ECTO_0500000 manufactured product exposure HGNC:19027 LRRC8A biolink:OntologyClass mondo http://identifiers.org/hgnc/19027 MONDO:0001873 geniculate ganglionitis biolink:Disease mondo ICD9:351.1|ICD10:G51.1|SCTID:72839009|DOID:14075|COHD:376963|UMLS:C0017407 Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. DOID:14075|SNOMEDCT:72839009|UMLS:C0017407 http://purl.obolibrary.org/obo/MONDO_0001873 inflammation of geniculate ganglion|geniculate ganglionitis|geniculate ganglion inflammation MONDO:0001872 obsolete vestibular nystagmus (disease) biolink:Disease mondo ICD9:379.54|SCTID:46888001|UMLS:C0155379|COHD:377568|DOID:14070 DOID:14070|SNOMEDCT:46888001|UMLS:C0155379 http://purl.obolibrary.org/obo/MONDO_0001872 Nystagmus associated with disorder of the vestibular system|vestibular nystagmus MONDO:0001871 acute diffuse glomerulonephritis biolink:Disease mondo DOID:14066|UMLS:C0341689|NCIT:C35587|SCTID:197585004 An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure. NCIT:C35587|SNOMEDCT:197585004|DOID:14066|UMLS:C0341689 http://purl.obolibrary.org/obo/MONDO_0001871 acute diffuse glomerulonephritis|acute diffuse nephritis|diffuse glomerulonephritis, acute MONDO:0001870 acute poststreptococcal glomerulonephritis biolink:Disease mondo DOID:14064|SCTID:68544003|UMLS:C0403414 Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female. DOID:14064|SNOMEDCT:68544003|UMLS:C0403414 http://purl.obolibrary.org/obo/MONDO_0001870 post-streptococcal glomerulonephritis MONDO:0001877 infertility due to extratesticular cause biolink:Disease mondo SCTID:84245004|UMLS:C0021360|DOID:14096|ICD9:606.8|COHD:201354 UMLS:C0021360|SNOMEDCT:84245004|DOID:14096 http://purl.obolibrary.org/obo/MONDO_0001877 infertility due to extratesticular causes MONDO:0001876 renal artery atheroma biolink:Disease mondo COHD:195834|SCTID:45281005|ICD10:I70.1|DOID:14092|ICD9:440.1|UMLS:C0155734 A atherosclerosis that involves the renal artery. SNOMEDCT:45281005|DOID:14092|UMLS:C0155734 http://purl.obolibrary.org/obo/MONDO_0001876 renal artery atherosclerosis|atherosclerosis of renal artery|renal atherosclerosis UBERON:0009480 endoderm of buccopharyngeal membrane biolink:AnatomicalEntity mondo An endoderm that is part of a buccopharyngeal membrane. http://purl.obolibrary.org/obo/UBERON_0009480 MONDO:0001875 epicondylitis biolink:Disease mondo UMLS:C0014488|MESH:D013716|DOID:14087|ICD10:M77.1|NCIT:C34589|ICD9:726.32|SCTID:202855006 Inflammation of the lateral epicondyle. UMLS:C0014488|SNOMEDCT:202855006|DOID:14087|MESH:D013716|NCIT:C34589 http://purl.obolibrary.org/obo/MONDO_0001875 golfer's elbow|andrel epicondylitis|ectepicondyle of humerus inflammation|tennis elbow|inflammation of ectepicondyle of humerus|lateral epicondylitis|shooter's elbow|hockey elbow|archer's elbow|medial epicondylitis MONDO:0001874 toxic labyrinthitis biolink:Disease mondo SCTID:3344003|SCTID:9062008|UMLS:C0155507|EFO:0006951|ICD9:386.34|DOID:14081 A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. DOID:14081|SNOMEDCT:3344003|SNOMEDCT:9062008|UMLS:C0155507 http://purl.obolibrary.org/obo/MONDO_0001874 ototoxicity UBERON:0009482 associated mesenchyme of foregut-midgut junction biolink:AnatomicalEntity mondo Mesenchyme that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/UBERON_0009482 MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome biolink:Disease mondo ICD10:E88.8|DOID:0070239|Orphanet:254898|OMIM:614651|UMLS:C3553354 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. ORPHA:254898|UMLS:C3553354|DOID:0070239|http://identifiers.org/omim/614651 http://purl.obolibrary.org/obo/MONDO_0013837 coenzyme Q10 deficiency, primary, 2; COQ10D2|hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome|COQ10D2|coenzyme Q10 deficiency, primary, type 2|coenzyme Q10 deficiency, primary, 2 ordo_disease MONDO:0013838 coenzyme Q10 deficiency, primary, 3 biolink:Disease mondo OMIM:614652|DOID:0070240|UMLS:C3553358 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene. UMLS:C3553358|DOID:0070240|http://identifiers.org/omim/614652 http://purl.obolibrary.org/obo/MONDO_0013838 coenzyme Q10 deficiency, primary, 3; COQ10D3|coenzyme Q10 deficiency, primary, 3|PDSS2 coenzyme Q10 deficiency|COQ10D3|coenzyme Q10 deficiency, primary, type 3|coenzyme Q10 deficiency caused by mutation in PDSS2 MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 biolink:Disease mondo UMLS:C3553330|OMIM:614643 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene. UMLS:C3553330|http://identifiers.org/omim/614643 http://purl.obolibrary.org/obo/MONDO_0013835 ISPD muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related|MDDGA7|muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; MDDGA7 MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness biolink:Disease mondo Orphanet:280406|UMLS:C3553349|ICD10:N04.8|OMIM:614650|DOID:0070243 UMLS:C3553349|ORPHA:280406|DOID:0070243|http://identifiers.org/omim/614650 http://purl.obolibrary.org/obo/MONDO_0013836 coenzyme Q10 deficiency, primary, 6; COQ10D6|coenzyme Q10 deficiency, primary, type 6|coenzyme Q10 deficiency, primary, 6|COQ10D6 ordo_disease MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 biolink:Disease mondo DOID:0070151|ICD10:G60.8|Orphanet:314381|UMLS:C3539003|OMIM:614653 Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene. ORPHA:314381|DOID:0070151|http://identifiers.org/omim/614653|UMLS:C3539003 http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type VI|familial dysautonomia with contractures|HSAN 6|neuropathy, hereditary sensory and autonomic, type VI|DST hereditary sensory and autonomic neuropathy|HSAN6|neuropathy, hereditary sensory and autonomic, type 6|neuropathy, hereditary sensory and autonomic, type VI; HSAN6|hereditary sensory and autonomic neuropathy caused by mutation in DST ordo_disease BSPO:0015101 in_dorsal_side_of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BSPO_0015101 MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome biolink:Disease mondo ICD10:E88.8|Orphanet:319678|OMIM:614654|DOID:0070242|UMLS:C3553374 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. DOID:0070242|http://identifiers.org/omim/614654|ORPHA:319678|UMLS:C3553374 http://purl.obolibrary.org/obo/MONDO_0013840 coenzyme Q10 deficiency, primary, 5; COQ10D5|coenzyme Q10 deficiency, primary, type 5|coenzyme Q10 deficiency, primary, 5|COQ10D5 ordo_disease MONDO:0013841 stuttering, familial persistent, 3 biolink:Disease mondo UMLS:C3553381|OMIM:614655 http://identifiers.org/omim/614655|UMLS:C3553381 http://purl.obolibrary.org/obo/MONDO_0013841 stuttering, familial persistent, 3|STUT3|stuttering, familial persistent, 3; STUT3 BSPO:0015102 in_ventral_side_of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BSPO_0015102 MONDO:0013844 stuttering, familial persistent, 4 biolink:Disease mondo OMIM:614668|UMLS:C3553403 http://identifiers.org/omim/614668|UMLS:C3553403 http://purl.obolibrary.org/obo/MONDO_0013844 stuttering, familial persistent, 4; STUT4|stuttering, familial persistent, 4|STUT4 MONDO:0013845 auriculocondylar syndrome 2 biolink:Disease mondo OMIM:614669|UMLS:C3553404 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene. UMLS:C3553404|http://identifiers.org/omim/614669 http://purl.obolibrary.org/obo/MONDO_0013845 ARCND2|AURICULOCONDYLAR syndrome 2; ARCND2|Auriculocondylar syndrome 2|PLCB4 auriculocondylar syndrome|Auriculocondylar syndrome type 2|auriculocondylar syndrome caused by mutation in PLCB4 NCBITaxon:291484 Hepeviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_291484 GO:0086065 cell communication involved in cardiac conduction biolink:OntologyClass mondo Any process that mediates interactions between a cell and its surroundings that contributes to the process of cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/GO_0086065 MONDO:0013842 cortisone reductase deficiency 2 biolink:Disease mondo UMLS:C3553382|NCIT:C131084|OMIM:614662|DOID:0090140 Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. http://identifiers.org/omim/614662|NCIT:C131084|DOID:0090140|UMLS:C3553382 http://purl.obolibrary.org/obo/MONDO_0013842 cortisone reductase deficiency 2; CORTRD2|11-beta-hydroxysteroid dehydrogenase type 1 deficiency|HSD11B1 cortisone reductase deficiency|CORTRD2|cortisone reductase deficiency caused by mutation in HSD11B1|cortisone reductase deficiency 2|cortisone reductase deficiency type 2 MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency biolink:Disease mondo ICD10:P76.0|Orphanet:314376|SCTID:733447005|OMIM:614665|ICD9:777.1|COHD:193591 Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene. SNOMEDCT:733447005|http://identifiers.org/omim/614665|ORPHA:314376 http://purl.obolibrary.org/obo/MONDO_0013843 meconium ileus|meconium ileus caused by mutation in GUCY2C|meconium ileus due to guanylate cyclase 2C deficiency|GUCY2C meconium ileus ordo_disease UBERON:0009483 mesentery of foregut-midgut junction biolink:AnatomicalEntity mondo A mesentery that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/UBERON_0009483 foregut-midgut junction mesentery MONDO:0001869 paraurethral gland cancer biolink:Disease mondo DOID:14059|ICD9:189.4|UMLS:C0153621|SCTID:363460002|ICD10:C68.1 A malignant neoplasm involving the paraurethral gland. SNOMEDCT:363460002|UMLS:C0153621|DOID:14059 http://purl.obolibrary.org/obo/MONDO_0001869 malignant tumor of the paraurethral gland|cancer of paraurethral gland|paraurethral gland cancer|malignant tumor of paraurethral gland|malignant neoplasm of paraurethral gland|malignant paraurethral gland neoplasm MONDO:0001868 primary angle-closure glaucoma biolink:Disease mondo SCTID:392288006|COHD:435543|EFO:1001506|DOID:1405|UMLS:C0017606|ICD9:365.2|NCIT:C34640|ICD10:H40.20|ICD9:365.20|ICD10:H40.2 An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. DOID:1405|UMLS:C0017606|NCIT:C34640|SNOMEDCT:392288006 http://purl.obolibrary.org/obo/MONDO_0001868 primary angle closure glaucoma MONDO:0001867 phaeohyphomycosis biolink:Disease mondo DOID:14049|SCTID:47158003|GARD:0012803|ICD9:117.8|COHD:438365|MESH:D060446 An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions. SNOMEDCT:47158003|MESH:D060446|DOID:14049 http://purl.obolibrary.org/obo/MONDO_0001867 infection by dematiacious fungi [Phaehyphomycosis]|phaehyphomycosis|infection by dematiacious fungi gard_rare MONDO:0037870 valine metabolism disease biolink:Disease mondo SCTID:444756000|UMLS:C2919304 A disease that has its basis in the disruption of valine metabolic process. SNOMEDCT:444756000|UMLS:C2919304 http://purl.obolibrary.org/obo/MONDO_0037870 valine metabolic process disease|disorder of valine metabolic process|disorder of valine metabolic process|disorder of valine metabolism MONDO:0037871 amino acid metabolism disease biolink:Disease mondo SCTID:44779003|NCIT:C97090 A disease that has its basis in the disruption of cellular amino acid metabolic process. SNOMEDCT:44779003|NCIT:C97090 http://purl.obolibrary.org/obo/MONDO_0037871 amino acid disorder|disorder of cellular amino acid metabolic process|disorder of cellular amino acid metabolic process|amino acid metabolism disorder|cellular amino acid metabolic process disease|disorder of amino acid metabolism|amino acidopathy MONDO:0037872 bordetellosis biolink:Disease mondo MESH:D001885|EFO:1001275|ICD9:041.85|SCTID:26484003|UMLS:C0006015 Any disease caused by infection with organisms of the genus Bordetella. UMLS:C0006015|SNOMEDCT:26484003|MESH:D001885 http://purl.obolibrary.org/obo/MONDO_0037872 Infections, Bordetella|Bordetella Infection|Bordetellosis|Bordetella infectious disease|Bordetella caused disease or disorder|bordetellosis|Bordetella infection|Bordetella Infections|Bordetella disease or disorder|INFECT BORDETELLA|Infection, Bordetella MONDO:0023232 giant cell myocarditis biolink:Disease mondo GARD:0006502|SCTID:60812006|UMLS:C0264856|NCIT:C97055 An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available. UMLS:C0264856|NCIT:C97055|SNOMEDCT:60812006 http://purl.obolibrary.org/obo/MONDO_0023232 giant cell myocarditis|idiopathic giant-cell myocarditis|GCM gard_rare MONDO:0023235 giant congenital nevus biolink:Disease mondo GARD:0002469|ICDO:8761/1|SCTID:254815002|NCIT:C4234 A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors. SNOMEDCT:254815002|NCIT:C4234 http://purl.obolibrary.org/obo/MONDO_0023235 giant hairy nevus|congenital hairy nevus|giant pigmented Nevus of skin|giant pigmented Nevus of the skin|giant congenital melanocytic nevus|GPHN|bathing trunk Nevus|giant pigmented hairy nevus|congenital giant pigmented nevus|giant congenital Nevus|bathing trunk nevus|large congenital melanocytic nevus|giant pigmented nevus gard_rare MONDO:0023238 giant mammary hamartoma biolink:Disease mondo UMLS:C2931343|MESH:C536818|GARD:0000208 MESH:C536818|UMLS:C2931343 http://purl.obolibrary.org/obo/MONDO_0023238 giant hamartoma of the breast gard_rare HGNC:10669 TSHZ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10669 MONDO:0023230 Ghose-Sachdev-Kumar syndrome biolink:Disease mondo GARD:0002467|UMLS:C2974016|MESH:C537803 UMLS:C2974016|MESH:C537803 http://purl.obolibrary.org/obo/MONDO_0023230 bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma gard_rare MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness biolink:Disease mondo MESH:C566521|OMIM:602561|UMLS:C1865182 UMLS:C1865182|http://identifiers.org/omim/602561|MESH:C566521 http://purl.obolibrary.org/obo/MONDO_0011254 brachydactyly, intraventricular septal defect, and deafness MONDO:0011253 craniomicromelic syndrome biolink:Disease mondo SCTID:725098001|Orphanet:1524|GARD:0001583|OMIM:602558|UMLS:C1865184|ICD10:Q87.0|MESH:C566522 Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly. UMLS:C1865184|SNOMEDCT:725098001|http://identifiers.org/omim/602558|ORPHA:1524|MESH:C566522 http://purl.obolibrary.org/obo/MONDO_0011253 craniomicromelic syndrome ordo_malformation_syndrome|gard_rare MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and mental retardation biolink:Disease mondo OMIM:602564|UMLS:C1865180|MESH:C566519 MESH:C566519|UMLS:C1865180|http://identifiers.org/omim/602564 http://purl.obolibrary.org/obo/MONDO_0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability|emphysema, congenital, with deafness, penoscrotal web, and mental retardation HGNC:10672 CXCL12 biolink:OntologyClass mondo http://identifiers.org/hgnc/10672 MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome biolink:Disease mondo MESH:C566520|Orphanet:357158|ICD10:Q87.0|UMLS:C1865181|OMIM:602562 UMLS:C1865181|http://identifiers.org/omim/602562|MESH:C566520|ORPHA:357158 http://purl.obolibrary.org/obo/MONDO_0011255 mandibulofacial dysostosis with macroblepharon and macrostomia|Verloes-Lesenfants syndrome|macroblepharon, ectropion, hypertelorism, and macrostomia|macroblepharon-ectropion-hypertelorism-macrostomia syndrome ordo_disease MONDO:0011258 branchiootic syndrome 1 biolink:Disease mondo OMIM:602588|UMLS:C1865143 Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene. UMLS:C1865143|http://identifiers.org/omim/602588 http://purl.obolibrary.org/obo/MONDO_0011258 branchiootic syndrome type 1|bo syndrome 1|EYA1 branchiootic syndrome|branchiootic syndrome 1; BOS1|branchiootic dysplasia|anterior segment anomalies with or without cataract|branchiootic syndrome caused by mutation in EYA1|branchiootic syndrome 1|BOS1 MONDO:0011257 MPI-CDG biolink:Disease mondo ICD10:E77.8|MESH:C535740|ICD9:277.6|Orphanet:79319|OMIM:602579|SCTID:124668009|GARD:0009830 (15q24.1). SNOMEDCT:124668009|ORPHA:79319|MESH:C535740|http://identifiers.org/omim/602579 http://purl.obolibrary.org/obo/MONDO_0011257 SLSJ syndrome|Mannosephosphate isomerase deficiency|CDG gastrointestinal type|congenital disorder of glycosylation type 1b|carbohydrate deficient glycoprotein syndrome type IB|CDG-Ib|carbohydrate-deficient glycoprotein syndrome type 1B|CDG 1B|CDG Ib|Mpi deficiency|Slsj syndrome|congenital disorder of glycosylation, type IB; CDG1B|CDG, gastrointestinal type|CDG syndrome type IB|congenital disorder of glycosylation type IB|phosphomannose isomerase deficiency|Saguenay Lac Saint Jean syndrome|CDG1B|Protein-losing enteropathy-hepatic fibrosis syndrome|Saguenay-Lac Saint-Jean syndrome|congenital disorder of glycosylation, type IB|MPI-CDG (CDG-Ib) ordo_disease MONDO:0011259 retinitis pigmentosa 22 biolink:Disease mondo UMLS:C3887981|ICD10:H35.5|DOID:0110400|GARD:0010393|OMIM:602594 A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1. UMLS:C3887981|DOID:0110400|http://identifiers.org/omim/602594 http://purl.obolibrary.org/obo/MONDO_0011259 RP 22|retinitis pigmentosa type 22|retinitis pigmentosa 22; RP22|RP22|retinitis pigmentosa 22 gard_rare MONDO:0011250 microcephaly, macrotia, and mental retardation biolink:Disease mondo UMLS:C1865204|MESH:C566525|OMIM:602555 UMLS:C1865204|http://identifiers.org/omim/602555|MESH:C566525 http://purl.obolibrary.org/obo/MONDO_0011250 microcephaly, macrotia, and intellectual disability|microcephaly, macrotia, and mental retardation HGNC:10671 SDCCAG8 biolink:OntologyClass mondo http://identifiers.org/hgnc/10671 MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type biolink:Disease mondo ICD10:Q77.7|UMLS:C1865185|GARD:0004980|Orphanet:93352|OMIM:602557|MESH:C566523|SCTID:719201004 Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. SNOMEDCT:719201004|UMLS:C1865185|ORPHA:93352|http://identifiers.org/omim/602557|MESH:C566523 http://purl.obolibrary.org/obo/MONDO_0011252 spondyloepimetaphyseal dysplasia, Shohat type|SEMD, Shohat type|spondyloepimetaphyseal dysplasia, Shohat type; SEMDSH|SEMDSH|spondyloepimetaphyseal dysplasia Shohat type|SEMD Shohat type ordo_disease|gard_rare MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly biolink:Disease mondo UMLS:C1865203|MESH:C566524|OMIM:602556 UMLS:C1865203|http://identifiers.org/omim/602556|MESH:C566524 http://purl.obolibrary.org/obo/MONDO_0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly MONDO:0023221 Gaucher ichthyosis restrictive dermopathy biolink:Disease mondo GARD:0002444 http://purl.obolibrary.org/obo/MONDO_0023221 gard_rare HGNC:19012 CORIN biolink:OntologyClass mondo http://identifiers.org/hgnc/19012 HGNC:20001 PCSK9 biolink:OntologyClass mondo http://identifiers.org/hgnc/20001 MONDO:0023224 inherited reflex epilepsy biolink:Disease mondo GARD:0002455 An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0023224 hereditary reflex epilepsy gard_rare MONDO:0023226 gershinibaruch Leibo syndrome biolink:Disease mondo GARD:0002464 http://purl.obolibrary.org/obo/MONDO_0023226 gard_rare MONDO:0023227 gestational diabetes insipidus biolink:Disease mondo UMLS:C2932666|MESH:C548014|GARD:0010702 A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. MESH:C548014|UMLS:C2932666 http://purl.obolibrary.org/obo/MONDO_0023227 diabetes insipidus gestational|Gestagenic diabetes insipidus gard_rare MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome biolink:Disease mondo UMLS:C1865286|MESH:C566533|OMIM:602499|Orphanet:468672 ORPHA:468672|MESH:C566533|UMLS:C1865286|http://identifiers.org/omim/602499 http://purl.obolibrary.org/obo/MONDO_0011239 macrophthalmia, colobomatous, with microcornea|MACOM|macrophthalmia, colobomatous, with microcornea; MACOM|MACOM syndrome ordo_disease MONDO:0037807 glycerol metabolism disease biolink:Disease mondo SCTID:237977000|UMLS:C0342762 A disease that has its basis in the disruption of glycerol metabolic process. UMLS:C0342762|SNOMEDCT:237977000 http://purl.obolibrary.org/obo/MONDO_0037807 disorder of glycerol metabolic process|disorder of glycerol metabolic process|glycerol metabolic process disease|disorder of glycerol metabolism MONDO:0011243 grange syndrome biolink:Disease mondo OMIM:602531|Orphanet:79094|ICD10:Q87.8|UMLS:C1865267|SCTID:717824007|MESH:C566529 Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases. MESH:C566529|ORPHA:79094|UMLS:C1865267|http://identifiers.org/omim/602531|SNOMEDCT:717824007 http://purl.obolibrary.org/obo/MONDO_0011243 grange syndrome; GRNG|arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|GRNG|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome|grange occlusive arterial syndrome ordo_malformation_syndrome MONDO:0011242 Bartter disease type 4a biolink:Disease mondo UMLS:C1865270|SCTID:717791000|OMIM:602522|DOID:0110145|ICD10:E26.8 Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. DOID:0110145|UMLS:C1865270|http://identifiers.org/omim/602522|SNOMEDCT:717791000 http://purl.obolibrary.org/obo/MONDO_0011242 BSND|Bartter syndrome caused by mutation in BSND|neonatal Bartter syndrome with sensorineural deafness|Bartter syndrome type 4a|BARTS4A|Bartter syndrome, type 4A, neonatal, with sensorineural deafness|Bartter syndrome, type 4A|BSND Bartter syndrome|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome, neonatal, with sensorineural deafness|Bartter syndrome, type 4A, neonatal, with sensorineural deafness; BARTS4A|sensorineural deafness with mild renal dysfunction MONDO:0011245 ichthyosis, hystrix-like, with deafness biolink:Disease mondo OMIM:602540|UMLS:C1865234|MESH:C566528 MESH:C566528|UMLS:C1865234|http://identifiers.org/omim/602540 http://purl.obolibrary.org/obo/MONDO_0011245 Hid syndrome|ichthyosis, hystrix-like, with deafness HGNC:10683 SDHD biolink:OntologyClass mondo http://identifiers.org/hgnc/10683 MONDO:0011244 Marshall-Smith syndrome biolink:Disease mondo MESH:C536026|ICD10:Q87.3|OMIM:602535|GARD:0006985|Orphanet:561|SCTID:73284007|ICD9:759.89|DOID:0050858|UMLS:C0265211 Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth. MESH:C536026|UMLS:C0265211|ORPHA:561|DOID:0050858|http://identifiers.org/omim/602535|SNOMEDCT:73284007 http://purl.obolibrary.org/obo/MONDO_0011244 accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome|MRSHSS|Marshall-SMITH syndrome; MRSHSS|Marshall-Smith syndrome gard_rare|ordo_malformation_syndrome MONDO:0011247 jejunal atresia with renal adysplasia biolink:Disease mondo UMLS:C1865209|MESH:C537567|OMIM:602551|GARD:0009985 MESH:C537567|UMLS:C1865209|http://identifiers.org/omim/602551 http://purl.obolibrary.org/obo/MONDO_0011247 jejunal atresia with renal adysplasia gard_rare MONDO:0011246 megaconial type congenital muscular dystrophy biolink:Disease mondo ICD10:G71.2|OMIM:602541|DOID:0110632|Orphanet:280671|GARD:0010317|UMLS:C1865233|MESH:C566527 MESH:C566527|DOID:0110632|UMLS:C1865233|ORPHA:280671|http://identifiers.org/omim/602541 http://purl.obolibrary.org/obo/MONDO_0011246 muscular dystrophy, congenital, with mitochondrial structural abnormalities|muscular dystrophy, congenital, megaconial type|megaconial congenital muscular dystrophy|congenital muscular dystrophy with mitochondrial structural abnormalities|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|muscular dystrophy, congenital, megaconial type; MDCMC|MDCMC|congenital megaconial myopathy|megaconial congénital muscular dystrophy ordo_disease|gard_rare MONDO:0011249 torsion dystonia with onset in infancy biolink:Disease mondo DOID:0090058|UMLS:C1865205|OMIM:602554|ICD10:G24.1|MESH:C536969 A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. DOID:0090058|MESH:C536969|UMLS:C1865205|http://identifiers.org/omim/602554 http://purl.obolibrary.org/obo/MONDO_0011249 torsion dystonia with onset in infancy|torsion dystonia with onset in infancy MONDO:0011248 distal monosomy 13q biolink:Disease mondo OMIM:602553|SCTID:763527007|ICD10:Q93.5|UMLS:C1865208|Orphanet:1590|MESH:C566526 Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. MESH:C566526|ORPHA:1590|SNOMEDCT:763527007|UMLS:C1865208|http://identifiers.org/omim/602553|UMLS:C2930913 http://purl.obolibrary.org/obo/MONDO_0011248 distal 13q deletion|anal atresia, hypospadias, and penoscrotal inversion|deletion 13q32|monosomy 13q32|distal monosomy type 13q|telomeric deletion13q|13q32 deletion ordo_malformation_syndrome HP:0012415 Abnormal blood gas level biolink:PhenotypicFeature mondo SNOMEDCT_US:312391003|UMLS:C0476337 An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. http://purl.obolibrary.org/obo/HP_0012415 Abnormal blood gas level HP:0012418 Hypoxemia biolink:PhenotypicFeature mondo UMLS:C0700292|SNOMEDCT_US:389087006|MSH:D000860 An abnormally low level of blood oxygen. http://purl.obolibrary.org/obo/HP_0012418 Hypoxia|Low blood oxygen level HGNC:10681 SDHB biolink:OntologyClass mondo http://identifiers.org/hgnc/10681 HGNC:19016 TRIM44 biolink:OntologyClass mondo http://identifiers.org/hgnc/19016 HGNC:10682 SDHC biolink:OntologyClass mondo http://identifiers.org/hgnc/10682 MONDO:0011241 pseudoacromegaly with severe insulin resistance biolink:Disease mondo OMIM:602511|MESH:C566531|UMLS:C1865284 UMLS:C1865284|http://identifiers.org/omim/602511|MESH:C566531 http://purl.obolibrary.org/obo/MONDO_0011241 pseudoacromegaly with severe insulin resistance MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome biolink:Disease mondo SCTID:703370002|ICD10:Q87.3|ICD9:759.89|MESH:C536142|GARD:0006950|OMIM:602501|Orphanet:60040|UMLS:C1865285 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism. SNOMEDCT:703370002|UMLS:C1865285|http://identifiers.org/omim/602501|ORPHA:60040|MESH:C536142 http://purl.obolibrary.org/obo/MONDO_0011240 MCMTC|megalencephaly-capillary malformation syndrome|megalencephaly-capillary malformation-polymicrogyria syndrome|macrocephaly cutis marmorata telangiectatica congenita|MCAP|macrocephaly-cutis marmorata telangiectatica congenita|megalencephaly-capillary malformation-polymicrogyria syndrome; MCAP|megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|M-CM|megalencephaly cutis marmorata telangiectatica congenita|M-CMTC|megalocephaly cutis marmorata telangiectatica congenita|macrocephaly-capillary malformation|megalencephaly-cutis marmorata telangiectatica congenita|macrocephaly-cutis marmorata telangiectatica congenita syndrome|MCM ordo_malformation_syndrome HGNC:10680 SDHA biolink:OntologyClass mondo http://identifiers.org/hgnc/10680 MONDO:0023211 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023211 MONDO:0023212 Garret-Tripp syndrome biolink:Disease mondo MESH:C535646|GARD:0002435|UMLS:C2930965 MESH:C535646|UMLS:C2930965 http://purl.obolibrary.org/obo/MONDO_0023212 intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|polydactyly alopecia seborrheic dermatitis|mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Garret Tripp syndrome gard_rare MONDO:0023214 gas bloat syndrome biolink:Disease mondo MESH:C535647|UMLS:C2930966|GARD:0006484 MESH:C535647|UMLS:C2930966 http://purl.obolibrary.org/obo/MONDO_0023214 post-fundoplication syndrome gard_rare MONDO:0023217 obsolete gastro-enteropancreatic neuroendocrine tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023217 MONDO:0011229 ethylmalonic encephalopathy biolink:Disease mondo UMLS:C1865349|SCTID:723307008|ICD10:G31.8|Orphanet:51188|DOID:0060640|OMIM:602473|GARD:0002198|MESH:C535737 Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. http://identifiers.org/omim/602473|SNOMEDCT:723307008|MESH:C535737|UMLS:C1865349|DOID:0060640|ORPHA:51188 http://purl.obolibrary.org/obo/MONDO_0011229 encephalopathy, petechiae, and ethylmalonic aciduria|encephalopathy, ethylmalonic|EE|EPEMA syndrome|encephalopathy, ethylmalonic; EE|syndrome of encephalopathy, petechiae, and ethylmalonic aciduria|eme ordo_disease|gard_rare MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age biolink:Disease mondo UMLS:C1865360|MESH:C566543|OMIM:602472 http://identifiers.org/omim/602472|MESH:C566543|UMLS:C1865360 http://purl.obolibrary.org/obo/MONDO_0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age HGNC:10648 AIMP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10648 MONDO:0011232 migraine, familial hemiplegic, 2 biolink:Disease mondo UMLS:C1865322|GARD:0010095|OMIM:602481 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene. UMLS:C1865322|http://identifiers.org/omim/602481 http://purl.obolibrary.org/obo/MONDO_0011232 hemiplegic migraine, familial type 2|migraine, familial hemiplegic, 2; FHM2|migraine, familial basilar|migraine, familial hemiplegic, type 2|familial or sporadic hemiplegic migraine caused by mutation in ATP1A2|Mhp2|FHM2|familial hemiplegic migraine type 2|migraine, familial hemiplegic, 2|ATP1A2 familial or sporadic hemiplegic migraine MONDO:0013895 Adams-Oliver syndrome 3 biolink:Disease mondo UMLS:C3553748|OMIM:614814 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene. UMLS:C3553748|http://identifiers.org/omim/614814 http://purl.obolibrary.org/obo/MONDO_0013895 Adams-Oliver syndrome caused by mutation in RBPJ|Adams-Oliver syndrome 3; AOS3|AOS3|RBPJ Adams-Oliver syndrome|Adams-Oliver syndrome type 3|Adams-Oliver syndrome 3 MONDO:0011231 FEB2 biolink:Disease mondo OMIM:602477|MESH:C566541|UMLS:C1865342 MESH:C566541|UMLS:C1865342|http://identifiers.org/omim/602477 http://purl.obolibrary.org/obo/MONDO_0011231 convulsions, familial febrile, 2|febrile seizures, familial, 2; FEB2|FEB2|febrile seizures, familial, 2 MONDO:0013896 Joubert syndrome 18 biolink:Disease mondo DOID:0110987|UMLS:C3553758|OMIM:614815 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene. DOID:0110987|UMLS:C3553758|http://identifiers.org/omim/614815 http://purl.obolibrary.org/obo/MONDO_0013896 Joubert syndrome 18; JBTS18|TCTN3 Joubert syndrome|Joubert syndrome caused by mutation in TCTN3|Joubert syndrome type 18|Joubert syndrome 18|JBTS18 MONDO:0013893 multiple sclerosis, susceptibility to, 5 biolink:Disease mondo OMIM:614810 Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene. http://identifiers.org/omim/614810 http://purl.obolibrary.org/obo/MONDO_0013893 multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A|TNFRSF1A multiple sclerosis, susceptibility to|multiple sclerosis, susceptibility to, type 5|MS5|multiple sclerosis, susceptibility to, 5; MS5|susceptibility to multiple sclerosis 5|multiple sclerosis, susceptibility to, 5 predisposition MONDO:0011234 auriculocondylar syndrome 1 biolink:Disease mondo OMIM:602483 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene. http://identifiers.org/omim/602483 http://purl.obolibrary.org/obo/MONDO_0011234 GNAI3 auriculocondylar syndrome|ARCND1|question Mark ears syndrome|Auriculocondylar syndrome 1|AURICULOCONDYLAR syndrome 1; ARCND1|auriculocondylar syndrome caused by mutation in GNAI3|Auriculocondylar syndrome type 1 MONDO:0037821 porphyrin metabolism disease biolink:Disease mondo SCTID:29094004 A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. SNOMEDCT:29094004 http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin-containing compound metabolic process disease|disorder of porphyrin and heme metabolism|disorder of porphyrin-containing compound metabolic process|disorder of porphyrin-containing compound metabolic process|disorder of porphyrin metabolism MONDO:0011233 Axenfeld-Rieger syndrome type 3 biolink:Disease mondo ICD10:Q13.8|ICD9:743.44|DOID:0110122|SCTID:22155002|OMIM:602482 Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene. SNOMEDCT:22155002|DOID:0110122|http://identifiers.org/omim/602482 http://purl.obolibrary.org/obo/MONDO_0011233 RIEG3|Axenfeld-Rieger syndrome, type 3|Axenfeld-Rieger anomaly|Axenfeld-Rieger syndrome, type 3; RIEG3|anterior chamber cleavage syndrome|Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss|anterior segment mesenchymal dysgenesis|Rieger syndrome, type 3|Axenfeld-Rieger syndrome caused by mutation in FOXC1|Axenfeld anomaly|Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss|anterior chamber Cleavage syndrome|Rieger anomaly|Rieger syndrome type 3|Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss|FOXC1 Axenfeld-Rieger syndrome MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome biolink:Disease mondo ICD10:Q87.1|Orphanet:314394|OMIM:614813|UMLS:C3542022 UMLS:C3542022|ORPHA:314394|http://identifiers.org/omim/614813 http://purl.obolibrary.org/obo/MONDO_0013894 soft syndrome|short stature, onychodysplasia, facial dysmorphism, and hypotrichosis; soft|soft|short stature, onychodysplasia, facial dysmorphism, and hypotrichosis ordo_disease MONDO:0011236 hyperinsulinism due to glucokinase deficiency biolink:Disease mondo DOID:0070216|GARD:0002818|OMIM:602485|GARD:0009930|ICD10:E16.1|SCTID:717182006|MESH:C538374|Orphanet:79299 Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. MESH:C538374|SNOMEDCT:717182006|ORPHA:79299|http://identifiers.org/omim/602485|DOID:0070216 http://purl.obolibrary.org/obo/MONDO_0011236 hyperinsulinemic hypoglycemia, familial, 3|hyperinsulinemic hypoglycemia familial 3|hyperinsulinemic hypoglycemia, familial, 3; HHF3|hyperinsulinemic hypoglycemia, familial, type 3|hyperinsulinemic hypoglycemia due to glucokinase deficiency|HHF3 ordo_disease|gard_rare MONDO:0013899 Weill-Marchesani syndrome 3 biolink:Disease mondo UMLS:C3553785|OMIM:614819 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene. UMLS:C3553785|http://identifiers.org/omim/614819 http://purl.obolibrary.org/obo/MONDO_0013899 Weill-Marchesani syndrome 3; WMS3|Weill-Marchesani syndrome type 3|LTBP2 Weill-Marchesani syndrome|Weill-Marchesani syndrome caused by mutation in LTBP2|WMS3|Weill-Marchesani syndrome 3 MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome biolink:Disease mondo OMIM:602484|Orphanet:2840|GARD:0004269|UMLS:C1865294 ORPHA:2840|MESH:C535292|MESH:C535548|UMLS:C1865294|http://identifiers.org/omim/602484|UMLS:C2930869 http://purl.obolibrary.org/obo/MONDO_0011235 Ray-Peterson-Scott syndrome|pelvic dysplasia arthrogryposis of lower limbs|pelvic hypoplasia with arthrogryposis of lower limbs|pelvic hypoplasia with LOWER-limb arthrogryposis|pelvic hypoplasia with lower limb arthrogryposis ordo_malformation_syndrome MONDO:0013897 Loeys-Dietz syndrome 4 biolink:Disease mondo GARD:0010588|DOID:0070233|OMIM:614816|UMLS:C3553762 Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene. UMLS:C3553762|DOID:0070233|http://identifiers.org/omim/614816 http://purl.obolibrary.org/obo/MONDO_0013897 aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations|Loeys-Dietz syndrome 4|Loeys-Dietz syndrome 4; LDS4|Loeys-Dietz syndrome type 4|Loeys-Dietz syndrome caused by mutation in TGFB2|LDS4|TGFB2 Loeys-Dietz syndrome MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal biolink:Disease mondo OMIM:602497 http://identifiers.org/omim/602497 http://purl.obolibrary.org/obo/MONDO_0011238 brachytelephalangic chondrodysplasia punctata|chondrodysplasia punctata, brachytelephalangic, autosomal MONDO:0011237 hyperlipidemia, combined, 1 biolink:Disease mondo MESH:C566535|UMLS:C1865289|OMIM:602491 Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene. MESH:C566535|UMLS:C1865289|http://identifiers.org/omim/602491 http://purl.obolibrary.org/obo/MONDO_0011237 hyperlipidemia, combined, type 1|USF1 familial combined hyperlipidemia|hyperlipidemia, familial combined, 1|hyplip1|hyperlipidemia, combined, 1|familial combined hyperlipidemia caused by mutation in USF1 MONDO:0013898 karyomegalic interstitial nephritis biolink:Disease mondo GARD:0011003|Orphanet:401996|UMLS:C3553774|OMIM:614817|DOID:0060911|ICD10:N11.8 Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. ORPHA:401996|UMLS:C3553774|DOID:0060911|http://identifiers.org/omim/614817 http://purl.obolibrary.org/obo/MONDO_0013898 interstitial nephritis caused by mutation in FAN1|kin|FAN1 interstitial nephritis|KMIN|systemic karyomegaly|interstitial nephritis, karyomegalic; KMIN|interstitial nephritis, karyomegalic gard_rare|ordo_disease MONDO:0023208 Fuqua Berkovitz syndrome biolink:Disease mondo GARD:0002415 http://purl.obolibrary.org/obo/MONDO_0023208 gard_rare CARO:0001000 multi-cell-part structure biolink:OntologyClass mondo http://purl.obolibrary.org/obo/CARO_0001000 MONDO:0023209 galactorrhoea-hyperprolactinaemia biolink:Disease mondo GARD:0008400|MESH:C535402 MESH:C535402 http://purl.obolibrary.org/obo/MONDO_0023209 galactorrhoea-hyperprolactinaemia|hyperprolactinaemia|galactorrhea-hyperprolactinemia gard_rare NCBITaxon:76804 Nidovirales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_76804 MONDO:0013891 amyotrophic lateral sclerosis type 18 biolink:Disease mondo UMLS:C3553719|DOID:0060209|OMIM:614808 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene. DOID:0060209|UMLS:C3553719|http://identifiers.org/omim/614808 http://purl.obolibrary.org/obo/MONDO_0013891 amyotrophic lateral sclerosis 18; ALS18|ALS18|amyotrophic lateral sclerosis 18|PFN1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 18|amyotrophic lateral sclerosis caused by mutation in PFN1 NCBITaxon:76803 Arteriviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_76803 MONDO:0013892 C3 glomerulonephritis biolink:Disease mondo NCIT:C123043|OMIM:614809|ICD10:N00.5|Orphanet:329931|UMLS:C3553720|UMLS:CN187045|UMLS:C4055342 Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. UMLS:CN187045|ORPHA:329931|UMLS:C4055342|UMLS:C3553720|NCIT:C123043|http://identifiers.org/omim/614809 http://purl.obolibrary.org/obo/MONDO_0013892 CFHR5 deficiency|complement-mediated membranoproliferative glomerulonephritis ordo_histopathological_subtype MONDO:0011230 ossification of the posterior longitudinal ligament of the spine biolink:Disease mondo SCTID:90448008|NCIT:C84975|EFO:0005895|OMIM:602475|MESH:C537143|GARD:0009699|UMLS:C1865343|DOID:0060887 A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms. SNOMEDCT:90448008|UMLS:C1865343|DOID:0060887|http://identifiers.org/omim/602475|NCIT:C84975|MESH:C537143 http://purl.obolibrary.org/obo/MONDO_0011230 ossification of the POSTERIOR longitudinal ligament of spine|OPLL|ossification of Posterior longitudinal ligament|ossification of the POSTERIOR longitudinal ligament of spine; OPLL CARO:0001001 neuron projection bundle biolink:OntologyClass mondo http://purl.obolibrary.org/obo/CARO_0001001 MONDO:0013890 congenital myopathy with internal nuclei and atypical cores biolink:Disease mondo Orphanet:319160|UMLS:C3553709|OMIM:614807|ICD10:G71.2|SCTID:764945007 Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. UMLS:C3553709|ORPHA:319160|SNOMEDCT:764945007|http://identifiers.org/omim/614807 http://purl.obolibrary.org/obo/MONDO_0013890 myopathy, centronuclear, 4|centronuclear myopathy type 4|myopathy, centronuclear, 4; CNM4|CNM4|myopathy, centronuclear, type 4 ordo_disease MONDO:0023200 Fryns Fabry Remans syndrome biolink:Disease mondo GARD:0002407 http://purl.obolibrary.org/obo/MONDO_0023200 gard_rare MONDO:0023201 Fryns Smeets Thiry syndrome biolink:Disease mondo GARD:0002409 http://purl.obolibrary.org/obo/MONDO_0023201 gard_rare NCBITaxon:110618 Nectriaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_110618 MONDO:0023203 Fuchs atrophia gyrata chorioideae et retinae biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0023203 MONDO:0023204 Fukuda-Miyanomae-Nakata syndrome biolink:Disease mondo UMLS:CN776933|GARD:0002411|Orphanet:2060|GARD:0006475 ORPHA:2060|UMLS:CN776933 http://purl.obolibrary.org/obo/MONDO_0023204 muscular dystrophy, congenital progressive, with intellectual disability|muscular dystrophy, congenital, with central nervous system involvement|muscular dystrophy, congenital, Fukuyama type|Cerebromuscular dystrophy, Fukuyama type|Fukuyama type muscular dystrophy|muscular dystrophy, congenital progressive, with mental retardation|FCMD gard_rare MONDO:0023206 functional pancreatic neuroendocrine tumor biolink:Disease mondo NCIT:C45840|UMLS:C1708107|GARD:0002414|Orphanet:506060 A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion. UMLS:C1708107|NCIT:C45840|ORPHA:506060 http://purl.obolibrary.org/obo/MONDO_0023206 functioning well-differentiated NEN of pancreas|functioning neuroendocrine tumor of pancreas|functional pancreatic neuroendocrine tumor|functioning well-differentiated neuroendocrine neoplasm of pancreas|functioning PNET|functioning well-differentiated pancreatic NEN|syndromic pancreatic neuroendocrine tumor|functioning well-differentiated pancreatic neuroendocrine neoplasm|functioning pancreatic endocrine tumor|syndromic pancreatic NET|functioning well differentiated pancreatic endocrine tumor|functioning pancreatic NET|functioning well differentiated pancreatic endocrine neoplasm|functioning pancreatic neuroendocrine tumor|functional pancreatic NET ordo_group_of_disorders|gard_rare MONDO:0011218 autosomal recessive congenital ichthyosis 11 biolink:Disease mondo MESH:C536273|OMIM:602400|UMLS:C1835851|GARD:0010116|DOID:0060720|Orphanet:91132|ICD10:Q80.8 http://identifiers.org/omim/602400|UMLS:C1835851|ORPHA:91132|MESH:C536273|DOID:0060720 http://purl.obolibrary.org/obo/MONDO_0011218 ichthyosis, congenital, autosomal recessive type 11|ichthyosis, congenital, autosomal recessive 11; ARCI11|ichthyosis with hypotrichosis, autosomal recessive|ichthyosis-hypotrichosis syndrome|ichthyosis, congenital, autosomal recessive 11|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|autosomal recessive congenital ichthyosis type 11|ARIH|hypotrichosis-congenital ichthyosis syndrome|ARCI11|IFAH syndrome|autosomal recessive ichthyosis with hypotrichosis|IHS ordo_disease MONDO:0011217 desmosterolosis biolink:Disease mondo ICD9:272.8|SCTID:709490002|MESH:C566555|OMIM:602398|ICD10:Q87.8|Orphanet:35107|UMLS:C1865596|GARD:0010283 Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. http://identifiers.org/omim/602398|SNOMEDCT:709490002|MESH:C566555|ORPHA:35107|UMLS:C1865596 http://purl.obolibrary.org/obo/MONDO_0011217 desmosterolosis ordo_disease|gard_rare MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 biolink:Disease mondo OMIM:614743|UMLS:C3553622 http://identifiers.org/omim/614743|UMLS:C3553622 http://purl.obolibrary.org/obo/MONDO_0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2|PFBMFT2|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2; PFBMFT2 MONDO:0037829 purine metabolism disease biolink:Disease mondo UMLS:C0268104|SCTID:32612005 A disease that has its basis in the disruption of purine nucleobase metabolic process. SNOMEDCT:32612005|UMLS:C0268104 http://purl.obolibrary.org/obo/MONDO_0037829 disorder of purine nucleobase metabolic process|disorder of purine nucleobase metabolic process|purine nucleobase metabolic process disease|disorder of purine metabolism MONDO:0011219 Fried's tooth and nail syndrome biolink:Disease mondo UMLS:C0406715|Orphanet:99672|OMIM:602401|SCTID:239020008 http://identifiers.org/omim/602401|SNOMEDCT:239020008|UMLS:C0406715|ORPHA:99672 http://purl.obolibrary.org/obo/MONDO_0011219 ectodermal dysplasia 8, hair/tooth/nail type|ECTD8|ectodermal dysplasia 8, hair/tooth/nail type; ECTD8 ordo_malformation_syndrome MONDO:0013884 neuronopathy, distal hereditary motor, type 5B biolink:Disease mondo UMLS:C3553656|OMIM:614751 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene. UMLS:C3553656|http://identifiers.org/omim/614751 http://purl.obolibrary.org/obo/MONDO_0013884 dHMN 5B|neuronopathy, distal hereditary motor, type VB|spinal muscular atrophy, distal, type 5B|REEP1 neuronopathy, distal hereditary motor|HMN 5B|neuronopathy, distal hereditary motor, type VB; HMN5B|neuronopathy, distal hereditary motor caused by mutation in REEP1|HMN5B|neuropathy, distal hereditary motor, type 5B MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome biolink:Disease mondo UMLS:C1865566|GARD:0010178|MESH:C536696|OMIM:602418 MESH:C536696|UMLS:C1865566|http://identifiers.org/omim/602418 http://purl.obolibrary.org/obo/MONDO_0011221 Weyers ulnar ray/oligodactyly syndrome gard_rare NCBITaxon:49202 Dermacentor marginatus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_49202 MONDO:0013885 Malan overgrowth syndrome biolink:Disease mondo OMIM:614753|UMLS:C3553660|Orphanet:420179|ICD10:Q87.3|SCTID:763795006 Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. ORPHA:420179|UMLS:C3553660|SNOMEDCT:763795006|http://identifiers.org/omim/614753 http://purl.obolibrary.org/obo/MONDO_0013885 Sotos syndrome 2|SOTOS2|Sotos syndrome 2; SOTOS2|Sotos syndrome type 2|Malan syndrome ordo_malformation_syndrome NCBITaxon:171637 Amygdaloideae organism taxon mondo PMID:24631854|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_171637 Spiraeoideae|Maloideae MONDO:0011220 PARK3 biolink:Disease mondo OMIM:602404|MESH:C566552|UMLS:C1865581|GARD:0008578 MESH:C566552|UMLS:C1865581|http://identifiers.org/omim/602404 http://purl.obolibrary.org/obo/MONDO_0011220 Parkinson disease 3, autosomal dominant; PARK3|autosomal dominant Parkinson disease|Parkinson disease type 3|Parkinson disease 3, autosomal dominant|PARK3|Parkinson disease 3, autosomal dominant Lewy body HGNC:10664 CWC27 biolink:OntologyClass mondo http://identifiers.org/hgnc/10664 MONDO:0011223 amyotrophic lateral sclerosis type 4 biolink:Disease mondo GARD:0010502|OMIM:602433|UMLS:C1865409|MESH:C566550|DOID:0060196|ICD10:G12.2|Orphanet:357043 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene. ORPHA:357043|MESH:C566550|DOID:0060196|UMLS:C1865409|http://identifiers.org/omim/602433 http://purl.obolibrary.org/obo/MONDO_0011223 ALS 4|ALS4|dHMN with upper motor neuron signs|SETX amyotrophic lateral sclerosis|neuronopathy, distal hereditary motor, with pyramidal features|amyotrophic lateral sclerosis caused by mutation in SETX|distal hereditary motor neuropathy with pyramidal features|amyotrophic lateral sclerosis 4, juvenile; ALS4|amyotrophic lateral sclerosis 4|amyotrophic lateral sclerosis 4, juvenile|distal hereditary motor neuropathy with upper motor neuron signs gard_rare|ordo_disease MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 biolink:Disease mondo UMLS:C3553637|OMIM:614749 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene. UMLS:C3553637|http://identifiers.org/omim/614749 http://purl.obolibrary.org/obo/MONDO_0013882 hyperphosphatasia with intellectual disability syndrome 2; HPMRS2|PIGO hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 2|hyperphosphatasia with mental retardation syndrome type 2|hyperphosphatasia with intellectual disability syndrome type 2|glycosylphosphatidylinositol biosynthesis defect 6|HPMRS2|hyperphosphatasia with mental retardation syndrome 2|hyperphosphatasia with mental retardation syndrome 2; HPMRS2|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO MONDO:0011222 GLC1D biolink:Disease mondo MESH:C566551|UMLS:C1865427|OMIM:602429 MESH:C566551|UMLS:C1865427|http://identifiers.org/omim/602429 http://purl.obolibrary.org/obo/MONDO_0011222 GLC1D|glaucoma 1, open angle, D|glaucoma 1, open angle, D; GLC1D|glaucoma, primary open angle, adult-onset MONDO:0013883 congenital myasthenic syndrome 13 biolink:Disease mondo DOID:0110676|OMIM:614750|UMLS:C3553645 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene. DOID:0110676|UMLS:C3553645|http://identifiers.org/omim/614750 http://purl.obolibrary.org/obo/MONDO_0013883 myasthenic syndrome, congenital, 13|myasthenic syndrome, congenital, with tubular aggregates 2|DPAGT1 congenital myasthenic syndromes with glycosylation defect|CMS13|congenital myasthenic syndrome type 13|myasthenic syndrome, congenital, 13; CMS13|congenital myasthenic syndrome 13 with tubular aggregates|congenital myasthenic syndrome with tubular aggregates 2|congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1|CMSTA2|myasthenic syndrome, congenital, type 13 MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency biolink:Disease mondo OMIM:602450|DOID:0060006|DOID:0090012|SCTID:715982006|ICD10:D81.1|GARD:0009987|Orphanet:275 Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. ORPHA:275|SNOMEDCT:715982006|DOID:0090012|DOID:0060006|http://identifiers.org/omim/602450 http://purl.obolibrary.org/obo/MONDO_0011225 severe combined immunodeficiency, Athabaskan type|RS-SCID|SCID due to artemis deficiency|severe combined immunodeficiency (disease) caused by mutation in DCLRE1C|Athabaskan Severe combined immunodeficiency|severe combined immunodeficiency due to DCLRE1C deficiency|SCID, Athabaskan type|SCID due to DCLRE1C deficiency|severe combined immunodeficiency with sensitivity to ionizing radiation|severe combined immunodeficiency, Athabascan type|SCID due to ARTEMIS deficiency|severe combined immunodeficiency, Athabaskan-type|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|DCLRE1C severe combined immunodeficiency (disease)|artemis deficiency|severe combined immunodeficiency due to artemis deficiency|SCID, Athabascan type|severe combined immunodeficiency due to ARTEMIS deficiency|severe combined immunodeficiency, partial gard_rare|ordo_disease MONDO:0013888 tremor, hereditary essential, 4 biolink:Disease mondo UMLS:C3539195|OMIM:614782 Any essential tremor in which the cause of the disease is a mutation in the FUS gene. http://identifiers.org/omim/614782|UMLS:C3539195 http://purl.obolibrary.org/obo/MONDO_0013888 tremor, hereditary essential, 4; ETM4|FUS essential tremor|tremor, hereditary essential, type 4|ETM4|tremor, hereditary essential, 4|essential tremor caused by mutation in FUS MONDO:0011224 monomelic amyotrophy biolink:Disease mondo UMLS:C1865384|ICD10:G12.8|OMIM:602440|MedDRA:10069681|Orphanet:65684|MESH:C538253|EFO:1001989|GARD:0009697 Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms. MESH:C538253|UMLS:C1865384|ORPHA:65684|MEDDRA:10069681|http://identifiers.org/omim/602440 http://purl.obolibrary.org/obo/MONDO_0011224 spinal muscular atrophy, juvenile, nonprogressive|spinal muscular atrophy juvenile nonprogressive|Hirayama disease|amyotrophy, monomelic|JMADUE|benign focal amyotrophy|juvenile muscular atrophy of distal upper extremity|juvenile muscular atrophy of the distal upper limb ordo_disease|gard_rare MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome biolink:Disease mondo UMLS:C3541319|Orphanet:391677|ICD10:Q87.1|GARD:0010945|OMIM:614800 http://identifiers.org/omim/614800|ORPHA:391677|UMLS:C3541319 http://purl.obolibrary.org/obo/MONDO_0013889 soph|short stature-optic atrophy-Pelger-Huët anomaly syndrome|soph syndrome|short stature, optic nerve atrophy, and Pelger-Huet anomaly|short stature with optic atrophy and Pelger-Huët anomaly syndrome|short stature, optic nerve atrophy, and Pelger-Huet anomaly; soph ordo_malformation_syndrome HP:0000421 Epistaxis biolink:PhenotypicFeature mondo ICD10:R04.0|SNOMEDCT_US:12441001|EFO:0003895|SNOMEDCT_US:249366005|UMLS:C0014591|ICD9:784.7|MSH:D004844|COHD:318556|NCIT:C26766 Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. http://purl.obolibrary.org/obo/HP_0000421 Nose bleed|Frequent nosebleeds|Nasal hemorrhage|Nosebleed|Nose bleeding|Bloody nose MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome biolink:Disease mondo Orphanet:397623|ICD10:Q87.1|MESH:C566544|UMLS:C1865361|OMIM:602471|SCTID:417081007 MESH:C566544|SNOMEDCT:417081007|ORPHA:397623|UMLS:C1865361|http://identifiers.org/omim/602471 http://purl.obolibrary.org/obo/MONDO_0011227 SAMS syndrome|SAMS|short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities|short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities; SAMS ordo_malformation_syndrome MONDO:0013886 nonprogressive cerebellar atxia with mental retardation biolink:Disease mondo DOID:0050998|OMIM:614756|ICD10:G11.0|Orphanet:314647|UMLS:C3553661|SCTID:723441001 Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). SNOMEDCT:723441001|DOID:0050998|ORPHA:314647|UMLS:C3553661|http://identifiers.org/omim/614756 http://purl.obolibrary.org/obo/MONDO_0013886 cerebellar ataxia, nonprogressive, with mental retardation|cerebellar ataxia, nonprogressive, with intellectual disability|cerebellar ataxia, nonprogressive, with intellectual disability; CANPMR|cerebellar ataxia, nonprogressive, with mental retardation; CANPMR|nonprogressive cerebellar ataxia with mental retardation|nonprogressive cerebellar ataxia with intellectual disability|CANPMR|non-progressive cerebellar ataxia with intellectual disability ordo_disease MONDO:0013887 heterotaxy, visceral, 6, autosomal biolink:Disease mondo OMIM:614779|UMLS:C3553676 http://identifiers.org/omim/614779|UMLS:C3553676 http://purl.obolibrary.org/obo/MONDO_0013887 heterotaxy, visceral, 6, autosomal|heterotaxy, visceral, 6, autosomal; HTX6|HTX6 MONDO:0011226 autosomal dominant nonsyndromic deafness 15 biolink:Disease mondo OMIM:602459|UMLS:C1865366|ICD10:H90.3|MESH:C566545|DOID:0110546 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene. MESH:C566545|DOID:0110546|UMLS:C1865366|http://identifiers.org/omim/602459 http://purl.obolibrary.org/obo/MONDO_0011226 autosomal dominant nonsyndromic deafness caused by mutation in POU4F3|deafness, autosomal dominant 15; DFNA15|DFNA15|POU4F3 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 15|deafness, autosomal dominant type 15|autosomal dominant nonsyndromic deafness type 15|autosomal dominant deafness 15 CARO:0001010 organism or virus or viroid biolink:OntologyClass mondo http://purl.obolibrary.org/obo/CARO_0001010 MONDO:0013880 facial paresis, hereditary congenital, 3 biolink:Disease mondo UMLS:C3553625|OMIM:614744 Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene. UMLS:C3553625|http://identifiers.org/omim/614744 http://purl.obolibrary.org/obo/MONDO_0013880 HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome|congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1|HCFP3|facial paresis, hereditary congenital, 3|facial paresis, hereditary congenital, 3; HCFP3|facial paresis, hereditary congenital, type 3 MONDO:0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome biolink:Disease mondo UMLS:C3553636|OMIM:614748|Orphanet:306504 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. UMLS:C3553636|http://identifiers.org/omim/614748|ORPHA:306504 http://purl.obolibrary.org/obo/MONDO_0013881 congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|JEB with respiratory and renal involvement|junctional epidermolysis bullosa with respiratory and renal involvement|interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital; ILNEB|congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome|interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital|JEB-RR|ILNEB|congenital ILNEB syndrome|congenital NEP syndrome ordo_disease HGNC:10660 SDC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10660 NCBITaxon:5988 Litostomatea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5988 MONDO:0001800 equatorial staphyloma biolink:Disease mondo SCTID:82146006|UMLS:C0155361|ICD10:H15.81|DOID:13788|ICD9:379.13 SNOMEDCT:82146006|UMLS:C0155361|DOID:13788 http://purl.obolibrary.org/obo/MONDO_0001800 NCBITaxon:37296 Human gammaherpesvirus 8 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_37296 Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8|Human herpesvirus 8 type P|Kaposi's sarcoma herpesvirus|Kaposi's sarcoma-associated herpesvirus|KSHV|Kaposi's sarcoma-associated herpes-like virus|Human herpesvirus 8|HHV8 CL:0000765 erythroblast biolink:Cell mondo BTO:0001571|CALOHA:TS-0289|FMA:83504 A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. http://purl.obolibrary.org/obo/CL_0000765 normoblast HGNC:10627 CCL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10627 CL:0000766 myeloid leukocyte biolink:Cell mondo A cell of the monocyte, granulocyte, or mast cell lineage. http://purl.obolibrary.org/obo/CL_0000766 HGNC:10628 CCL3L1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10628 GO:0062013 positive regulation of small molecule metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a small molecule metabolic process. http://purl.obolibrary.org/obo/GO_0062013 positive regulation of small molecule metabolism GO:0062012 regulation of small molecule metabolic process biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of a small molecule metabolic process. http://purl.obolibrary.org/obo/GO_0062012 regulation of small molecule metabolism UBERON:0010414 omental fat pad biolink:AnatomicalEntity mondo encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon http://purl.obolibrary.org/obo/UBERON_0010414 omental fat depot GO:0062014 negative regulation of small molecule metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of a small molecule metabolic process. http://purl.obolibrary.org/obo/GO_0062014 negative regulation of small molecule metabolism UBERON:0010412 epididymal fat pad biolink:AnatomicalEntity mondo encapsulated adipose tissue associated with the epididymis http://purl.obolibrary.org/obo/UBERON_0010412 periepididymal fat pad UBERON:0010413 parametrial fat pad biolink:AnatomicalEntity mondo encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament http://purl.obolibrary.org/obo/UBERON_0010413 parametrial fat depot|parametrial adipose tissue|parametrial fat UBERON:0010418 urethral opening biolink:AnatomicalEntity mondo An orifice that is part of a lower urinary tract. http://purl.obolibrary.org/obo/UBERON_0010418 urethral orifice HGNC:7967 NR1H4 biolink:OntologyClass mondo http://identifiers.org/hgnc/7967 CL:0000762 nucleated thrombocyte biolink:Cell mondo A nucleated blood cell involved in coagulation, typically seen in birds and other non-mammalian vertebrates. http://purl.obolibrary.org/obo/CL_0000762 CL:0000763 myeloid cell biolink:Cell mondo CALOHA:TS-0647|BTO:0001441 A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. http://purl.obolibrary.org/obo/CL_0000763 NCBITaxon:49274 Lycopersicon organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_49274 CL:0000764 erythroid lineage cell biolink:Cell mondo CALOHA:TS-0290|FMA:83516|FMA:62845 A immature or mature cell in the lineage leading to and including erythrocytes. http://purl.obolibrary.org/obo/CL_0000764 erythropoietic cell HGNC:7961 NR0B2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7961 HGNC:7960 NR0B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7960 GO:0003723 RNA binding biolink:OntologyClass mondo Interacting selectively and non-covalently with an RNA molecule or a portion thereof. http://purl.obolibrary.org/obo/GO_0003723 base pairing with RNA|poly-A RNA binding|poly(A)-RNA binding|poly(A) RNA binding CHEBI:88184 metal allergen biolink:ChemicalSubstance mondo Any metal which causes the onset of an allergic reaction. http://purl.obolibrary.org/obo/CHEBI_88184 allergenic metals|metal allergens|allergenic metal MONDO:0001811 tetanic cataract biolink:Disease mondo UMLS:C0039613|SCTID:68216000|DOID:13822|ICD9:366.42|NCIT:C35068 A cataract resulting from hypocalcemia. DOID:13822|SNOMEDCT:68216000|NCIT:C35068|UMLS:C0039613 http://purl.obolibrary.org/obo/MONDO_0001811 hypocalcaemic cataract MONDO:0001810 hypoglossal nerve disease biolink:Disease mondo MESH:D020437|DOID:13814|COHD:435537|SCTID:24777009|ICD9:352.5|NCIT:C26954|ICD10:G52.3|UMLS:C0152181 A disease involving the hypoglossal nerve. DOID:13814|NCIT:C26954|MESH:D020437|UMLS:C0152181|SNOMEDCT:24777009 http://purl.obolibrary.org/obo/MONDO_0001810 disorder of the XII nerve|hypoglossal nerve disease|disorder of hypoglossal nerve|disorder of XII nerve|twelfth nerve disorder|disease or disorder of hypoglossal nerve|disease of hypoglossal nerve|disorder of 12th nerve|hypoglossal nerve disorder|hypoglossal nerve disease or disorder|disorder of hypoglossal nerve|disorder of hypoglossal [12th] nerve CHEBI:88188 drug allergen biolink:ChemicalSubstance mondo Any drug which causes the onset of an allergic reaction. http://purl.obolibrary.org/obo/CHEBI_88188 allergenic drug UBERON:0010410 inguinal fat pad biolink:AnatomicalEntity mondo encapsulated adipose tissue found in the groin http://purl.obolibrary.org/obo/UBERON_0010410 fat depot of inguinal region|inguinal fat depot UBERON:0010411 retroperitoneal fat pad biolink:AnatomicalEntity mondo encapsulated adipose tissue found on the dorsal side of the peritoneum http://purl.obolibrary.org/obo/UBERON_0010411 retroperitoneal fat depot HGNC:7974 NR2E3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7974 HGNC:7976 NR2F2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7976 CL:0000771 eosinophil biolink:Cell mondo FMA:62861|BTO:0000399|CALOHA:TS-0279 Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive. http://purl.obolibrary.org/obo/CL_0000771 eosinocyte|polymorphonuclear leucocyte|eosinophilic leucocyte|polymorphonuclear leukocyte|eosinophilic granulocyte|eosinophilic leukocyte MONDO:0001809 adhesions of uterus biolink:Disease mondo UMLS:CN199257|ICD9:621.5|DOID:13812|SCTID:361115000 SNOMEDCT:361115000|UMLS:CN199257|DOID:13812 http://purl.obolibrary.org/obo/MONDO_0001809 intrauterine adhesions|intrauterine synechiae|band of uterus UBERON:0010402 epidermis suprabasal layer biolink:AnatomicalEntity mondo Any layer of the epidermis that is superior to the stratum basale http://purl.obolibrary.org/obo/UBERON_0010402 suprabasal layer of epidermis|suprabasal layer|suprabasal cell layer of skin HGNC:7975 NR2F1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7975 HGNC:7978 NR3C1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7978 CL:0000775 neutrophil biolink:Cell mondo FMA:62860|CALOHA:TS-0688|BTO:0000130 Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. http://purl.obolibrary.org/obo/CL_0000775 polynuclear neutrophilic leukocyte|neutrocyte|polymorphonuclear leucocyte|neutrophilic leucocyte|PMN|neutrophil leukocyte|polynuclear neutrophilic leucocyte|poly|polymorphonuclear neutrophil|neutrophilic leukocyte|polymorphonuclear leukocyte|neutrophil leucocyte HGNC:7979 NR3C2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7979 HGNC:5318 TNC biolink:OntologyClass mondo http://identifiers.org/hgnc/5318 MONDO:0001804 anterior scleritis biolink:Disease mondo ICD9:379.03|UMLS:C0155353|ICD10:H15.01|SCTID:63454000|COHD:441582|DOID:13794 DOID:13794|UMLS:C0155353|SNOMEDCT:63454000 http://purl.obolibrary.org/obo/MONDO_0001804 CHEBI:17895 L-tyrosine biolink:ChemicalSubstance mondo An optically active form of tyrosine having L-configuration. http://purl.obolibrary.org/obo/CHEBI_17895 Tyrosine|TYROSINE|(-)-alpha-amino-p-hydroxyhydrocinnamic acid|(S)-Tyrosine|4-hydroxy-L-phenylalanine|Tyr|Y|(S)-3-(p-Hydroxyphenyl)alanine|(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid|(S)-(-)-Tyrosine|(S)-alpha-amino-4-hydroxybenzenepropanoic acid|L-Tyrosin|L-Tyrosine|L-tyrosine|(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid MONDO:0001803 myringitis bullosa hemorrhagica biolink:Disease mondo DOID:13791|UMLS:C0155461|ICD9:384.01|SCTID:33528003|ICD10:H73.01|COHD:375291 A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. DOID:13791|UMLS:C0155461|SNOMEDCT:33528003 http://purl.obolibrary.org/obo/MONDO_0001803 bullous myringitis MONDO:0001802 acute tympanitis biolink:Disease mondo DOID:13790|ICD10:H73.0|COHD:381040|ICD9:384.00|ICD10:H73.009|UMLS:C0155460|SCTID:297009|ICD10:H73.00 SNOMEDCT:297009|UMLS:C0155460|DOID:13790 http://purl.obolibrary.org/obo/MONDO_0001802 acute myringitis UBERON:0010409 ocular surface region biolink:AnatomicalEntity mondo The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. http://purl.obolibrary.org/obo/UBERON_0010409 eye surface|ocular surface|eye surface region MONDO:0001801 staphyloma posticum biolink:Disease mondo UMLS:C0155360|ICD10:H15.83|SCTID:87819007|DOID:13789|COHD:438767|ICD9:379.12 SNOMEDCT:87819007|UMLS:C0155360|DOID:13789 http://purl.obolibrary.org/obo/MONDO_0001801 MONDO:0001808 chronic subinvolution of uterus biolink:Disease mondo COHD:201903|ICD9:621.1|SCTID:198315005|UMLS:C0156370|DOID:13811 SNOMEDCT:198315005|UMLS:C0156370|DOID:13811 http://purl.obolibrary.org/obo/MONDO_0001808 CHEBI:17891 donor biolink:ChemicalSubstance mondo A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. http://purl.obolibrary.org/obo/CHEBI_17891 Donor|Donator|donneur MONDO:0001807 obsolete familial combined hyperlipidemia biolink:Disease mondo ICD9:272.4|ICD10:E78.4|MedDRA:10027763|SCTID:238040008|MESH:D006950|COHD:438720|Orphanet:79211|ICD10:E78.2|DOID:13809 A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1. ORPHA:79211|DOID:13809|SNOMEDCT:238040008|MESH:D006950|MEDDRA:10027763 http://purl.obolibrary.org/obo/MONDO_0001807 type IIb hyperlipoproteinemia|mixed hyperlipoproteinemia|hyperbetalipoproteinemia with prebetalipoproteinemia|mixed hyperlipidaemia|mixed hyperlipidemia|combined hyperlipidemia|combined hyperlipoproteinemia|familial multiple lipoprotein-type hyperlipidemia|familial combined hyperlipidemia (disorder) [ambiguous] MONDO:0001806 vaginal squamous tumor biolink:Disease mondo DOID:138|NCIT:C40242|UMLS:C1519931 A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma. NCIT:C40242|DOID:138|UMLS:C1519931 http://purl.obolibrary.org/obo/MONDO_0001806 vaginal squamous tumor|vagina squamous cell neoplasm|vaginal squamous neoplasm MONDO:0001805 female breast central part cancer biolink:Disease mondo ICD10:C50.11|UMLS:C0153549|ICD9:174.1|DOID:13799|SCTID:188151006 SNOMEDCT:188151006|DOID:13799|UMLS:C0153549 http://purl.obolibrary.org/obo/MONDO_0001805 malignant neoplasm of central part of female breast|malignant neoplasm of central portion of female breast HGNC:10606 SCP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10606 HGNC:10603 SCO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10603 HGNC:10604 SCO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10604 GO:0062033 positive regulation of mitotic sister chromatid segregation biolink:OntologyClass mondo Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis. http://purl.obolibrary.org/obo/GO_0062033 UBERON:0010400 spleen trabecular vein biolink:AnatomicalEntity mondo one of the veins that feed the splenic vein http://purl.obolibrary.org/obo/UBERON_0010400 trabecular vein HGNC:7989 NRAS biolink:OntologyClass mondo http://identifiers.org/hgnc/7989 HGNC:5326 HYMAI biolink:OntologyClass mondo http://identifiers.org/hgnc/5326 HGNC:10610 CCL11 biolink:OntologyClass mondo http://identifiers.org/hgnc/10610 NCBITaxon:5970 Exophiala dermatitidis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5970 Wangiella dermatitidis HGNC:7981 NR4A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7981 HGNC:5320 HYAL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5320 HGNC:7983 NR5A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7983 HGNC:7982 NR4A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7982 GO:0003700 DNA-binding transcription factor activity biolink:OntologyClass mondo A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. http://purl.obolibrary.org/obo/GO_0003700 nucleic acid binding transcription factor activity|bacterial-type RNA polymerase transcription factor activity, sequence-specific DNA binding|transcription factor activity|bacterial-type RNA polymerase transcription factor activity, metal ion regulated sequence-specific DNA binding|transcription factor activity, metal ion regulated sequence-specific DNA binding|bacterial-type RNA polymerase transcription enhancer sequence-specific DNA binding transcription factor activity|bacterial-type DNA binding transcription factor activity|transcription factor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|transcription factor activity, bacterial-type RNA polymerase transcription enhancer sequence-specific binding|transcription factor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity|DNA binding transcription factor activity|metal ion regulated sequence-specific DNA binding transcription factor activity|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|gene-specific transcription factor activity|sequence-specific DNA binding transcription factor activity CHEBI:30879 alcohol biolink:ChemicalSubstance mondo A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. http://purl.obolibrary.org/obo/CHEBI_30879 an alcohol|alcohols|Alcohol HGNC:10618 CCL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10618 GO:0062023 collagen-containing extracellular matrix biolink:OntologyClass mondo An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. http://purl.obolibrary.org/obo/GO_0062023 HGNC:7997 NRG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7997 GO:0003707 steroid hormone receptor activity biolink:OntologyClass mondo Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function. http://purl.obolibrary.org/obo/GO_0003707 HGNC:5330 IARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5330 HGNC:5331 NOD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5331 MONDO:0001840 obsolete schistosomiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001840 MONDO:0001844 uterine corpus myxoid leiomyoma biolink:Disease mondo NCIT:C40166|DOID:13956|UMLS:C1519860 A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma. DOID:13956|UMLS:C1519860|NCIT:C40166 http://purl.obolibrary.org/obo/MONDO_0001844 MONDO:0001843 uterus interstitial leiomyoma biolink:Disease mondo COHD:192854|UMLS:C0153994|SCTID:93616000|ICD10:D25.1|ICD9:218.1|DOID:13955 DOID:13955|SNOMEDCT:93616000|UMLS:C0153994 http://purl.obolibrary.org/obo/MONDO_0001843 intramural leiomyoma of uterus MONDO:0001842 uterine corpus dissecting leiomyoma biolink:Disease mondo DOID:13953|NCIT:C40172|UMLS:C1519847 A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present. DOID:13953|UMLS:C1519847|NCIT:C40172 http://purl.obolibrary.org/obo/MONDO_0001842 Cotyledonoid dissecting leiomyoma|Sternberg tumor MONDO:0001841 uterine corpus epithelioid leiomyoma biolink:Disease mondo DOID:13951|UMLS:C1519850|NCIT:C40164 A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters. DOID:13951|UMLS:C1519850|NCIT:C40164 http://purl.obolibrary.org/obo/MONDO_0001841 UBERON:0009471 dorsum of tongue biolink:AnatomicalEntity mondo The superior surface of the tongue divided by the sulcus terminalis into an anterior two-thirds, the presulcal part (pars presulcalis). and a posterior one-third, the postsulcal part (pars postsulcalis). http://purl.obolibrary.org/obo/UBERON_0009471 dorsum linguae|tongue dorsum|dorsal tongue MONDO:0013826 autosomal recessive nonsyndromic deafness 86 biolink:Disease mondo DOID:0110532|UMLS:C2829265|ICD10:H90.3|OMIM:614617 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. DOID:0110532|http://identifiers.org/omim/614617|UMLS:C2829265 http://purl.obolibrary.org/obo/MONDO_0013826 deafness, autosomal recessive type 86|autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24|DFNB86|deafness, autosomal recessive 86|deafness, autosomal recessive 86; DFNB86|autosomal recessive deafness 86|TBC1D24 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 86 MONDO:0013827 hyperekplexia 3 biolink:Disease mondo ICD10:G25.8|OMIM:614618|UMLS:C3553288|DOID:0060698 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene. UMLS:C3553288|DOID:0060698|http://identifiers.org/omim/614618 http://purl.obolibrary.org/obo/MONDO_0013827 SLC6A5 hereditary hyperekplexia|hyperekplexia 3|HKPX3|hyperekplexia 3; HKPX3|hereditary hyperekplexia caused by mutation in SLC6A5|hyperekplexia type 3 CL:0000723 somatic stem cell biolink:Cell mondo CALOHA:TS-2086|FMA:63368 A stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/CL_0000723 MONDO:0013824 Joubert syndrome 17 biolink:Disease mondo DOID:0110986|OMIM:614615|UMLS:C3553264 Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene. UMLS:C3553264|DOID:0110986|http://identifiers.org/omim/614615 http://purl.obolibrary.org/obo/MONDO_0013824 Joubert syndrome 17|Joubert syndrome caused by mutation in CPLANE1|JBTS17|CPLANE1 Joubert syndrome|Joubert syndrome 17; JBTS17|Joubert syndrome type 17 MONDO:0013825 congenital diarrhea 6 biolink:Disease mondo UMLS:C3553270|DOID:0060780|OMIM:614616|Orphanet:314373|ICD10:P78.3 Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene. ORPHA:314373|UMLS:C3553270|DOID:0060780|http://identifiers.org/omim/614616 http://purl.obolibrary.org/obo/MONDO_0013825 congenital diarrhea type 6|DIAR6|diarrhea 6|congenital diarrhea caused by mutation in GUCY2C|GUCY2C congenital diarrhea|diarrhea type 6|chronic diarrhea due to guanylate cyclase 2C overactivity|diarrhea 6; DIAR6 ordo_disease GO:1904479 negative regulation of intestinal absorption biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of intestinal absorption. http://purl.obolibrary.org/obo/GO_1904479 down-regulation of intestinal absorption|down regulation of intestinal absorption|inhibition of intestinal absorption|downregulation of intestinal absorption NCBITaxon:555280 Discosea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_555280 Flabellinea GO:0086019 cell-cell signaling involved in cardiac conduction biolink:OntologyClass mondo Any process that mediates the transfer of information from one cell to another and contributes to the heart process that regulates cardiac muscle contraction; beginning with the generation of an action potential in the sinoatrial node and ending with regulation of contraction of the myocardium. http://purl.obolibrary.org/obo/GO_0086019 cell-cell signalling involved in cardiac conduction GO:1904478 regulation of intestinal absorption biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of intestinal absorption. http://purl.obolibrary.org/obo/GO_1904478 MONDO:0013828 hyperekplexia 2 biolink:Disease mondo DOID:0060697|ICD10:G25.8|OMIM:614619|UMLS:C3553291 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene. UMLS:C3553291|DOID:0060697|http://identifiers.org/omim/614619 http://purl.obolibrary.org/obo/MONDO_0013828 hereditary hyperekplexia caused by mutation in GLRB|hyperekplexia 2|GLRB hereditary hyperekplexia|hyperekplexia 2; HKPX2|HKPX2|hyperekplexia type 2 MONDO:0013829 UV-sensitive syndrome 2 biolink:Disease mondo OMIM:614621|UMLS:C3553298 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene. UMLS:C3553298|http://identifiers.org/omim/614621 http://purl.obolibrary.org/obo/MONDO_0013829 ERCC8 UV-sensitive syndrome|UV-sensitive syndrome 2; UVSS2|UV-sensitive syndrome caused by mutation in ERCC8|UV-sensitive syndrome type 2|UVSS2|UV-sensitive syndrome 2 HGNC:5344 ICAM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5344 MONDO:0013830 KTCN5 biolink:Disease mondo OMIM:614622|UMLS:C3553302 http://identifiers.org/omim/614622|UMLS:C3553302 http://purl.obolibrary.org/obo/MONDO_0013830 keratoconus 5|keratoconus 5; KTCN5|KTCN5 MONDO:0013833 KTCN7 biolink:Disease mondo UMLS:C3553308|OMIM:614629 UMLS:C3553308|http://identifiers.org/omim/614629 http://purl.obolibrary.org/obo/MONDO_0013833 keratoconus 7; KTCN7|KTCN7|keratoconus 7 MONDO:0013834 UV-sensitive syndrome 3 biolink:Disease mondo OMIM:614640|UMLS:C3553328 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene. UMLS:C3553328|http://identifiers.org/omim/614640 http://purl.obolibrary.org/obo/MONDO_0013834 UV-sensitive syndrome type 3|UV-sensitive syndrome 3|UVSS3|UVSSA UV-sensitive syndrome|UV-sensitive syndrome 3; UVSS3|UV-sensitive syndrome caused by mutation in UVSSA GO:1904480 positive regulation of intestinal absorption biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of intestinal absorption. http://purl.obolibrary.org/obo/GO_1904480 up-regulation of intestinal absorption|up regulation of intestinal absorption|activation of intestinal absorption|upregulation of intestinal absorption MONDO:0013831 KTCN6 biolink:Disease mondo OMIM:614623|UMLS:C3553306 http://identifiers.org/omim/614623|UMLS:C3553306 http://purl.obolibrary.org/obo/MONDO_0013831 keratoconus 6|keratoconus 6; KTCN6|KTCN6 MONDO:0013832 KTCN8 biolink:Disease mondo OMIM:614628|UMLS:C3553307 UMLS:C3553307|http://identifiers.org/omim/614628 http://purl.obolibrary.org/obo/MONDO_0013832 KTCN8|keratoconus 8|keratoconus 8; KTCN8 MONDO:0001837 acute gonococcal salpingitis biolink:Disease mondo COHD:200334|DOID:13942|SCTID:45377007|UMLS:C0275654|ICD9:098.17 Acute form of gonococcal salpingitis. DOID:13942|UMLS:C0275654|SNOMEDCT:45377007 http://purl.obolibrary.org/obo/MONDO_0001837 gonococcal salpingitis, specified as acute|gonococcal salpingitis, acute UBERON:0009472 axilla biolink:AnatomicalEntity mondo The axilla is the area directly under the joint where the forelimb connects to the shoulder. http://purl.obolibrary.org/obo/UBERON_0009472 axilla|axillary region|arm pit|regio axillaris|oxter|axillae|underarm|armpit|armpits|axillary region MONDO:0001836 amenorrhea (disease) biolink:Disease mondo MESH:D000568|ICD9:626.0|HP:0000141|ICD10:N91.2|UMLS:C0002453|DOID:13938|NCIT:C61443|COHD:443800 The absence of menses in a woman who has achieved reproductive age. MESH:D000568|NCIT:C61443|DOID:13938|UMLS:C0002453 http://purl.obolibrary.org/obo/MONDO_0001836 amenia|absence of menstruation|amenorrhea MONDO:0001835 facial paralysis biolink:Disease mondo DOID:13934|UMLS:C0015469|MESH:D005158|ICD10:G51.0|SCTID:280816001 Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis. DOID:13934|MESH:D005158|SNOMEDCT:280816001|UMLS:C0015469 http://purl.obolibrary.org/obo/MONDO_0001835 facial palsy|palsy of face|face palsy MONDO:0001834 visual pathway disease biolink:Disease mondo SCTID:95776004|DOID:1393|ICD10:H47.9|UMLS:C0155287|SCTID:54767005|NCIT:C35342 A disorder of the neural pathway from the optic nerve to the visual cortex. UMLS:C0155287|SNOMEDCT:54767005|DOID:1393|NCIT:C35342|SNOMEDCT:95776004 http://purl.obolibrary.org/obo/MONDO_0001834 disease or disorder of optic tract|optic tract disorder|disease of optic tract|optic tract disease or disorder|disorder of optic tract|visual pathway disorder|optic tract disease|disorder of optic tract UBERON:0009477 associated mesenchyme of otic placode biolink:AnatomicalEntity mondo Mesenchyme that is part of a otic placode. http://purl.obolibrary.org/obo/UBERON_0009477 MONDO:0001839 obsolete interstitial cystitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001839 MONDO:0001838 acute gonococcal prostatitis biolink:Disease mondo ICD9:098.12|UMLS:C0153192|DOID:13943|SCTID:111806005 Acute form of gonococcal prostatitis. DOID:13943|UMLS:C0153192|SNOMEDCT:111806005 http://purl.obolibrary.org/obo/MONDO_0001838 gonococcal prostatitis (acute)|gonococcal prostatitis|gonococcal prostatitis, acute|acute gonococcal prostatitis UBERON:0009479 ectoderm of buccopharyngeal membrane biolink:AnatomicalEntity mondo An ectoderm that is part of a buccopharyngeal membrane. http://purl.obolibrary.org/obo/UBERON_0009479 MONDO:0001851 primary lacrimal atrophy biolink:Disease mondo SCTID:17093002|COHD:380107|DOID:1399|UMLS:C0155229|ICD9:375.13 SNOMEDCT:17093002|UMLS:C0155229|DOID:1399 http://purl.obolibrary.org/obo/MONDO_0001851 CHEBI:27207 univalent carboacyl group biolink:ChemicalSubstance mondo A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. http://purl.obolibrary.org/obo/CHEBI_27207 univalent carboacyl groups|univalent acyl group|univalent carboxylic acyl groups MONDO:0001850 female breast lower-outer quadrant cancer biolink:Disease mondo DOID:13972|UMLS:C0153553|ICD9:174.5|ICD10:C50.51|SCTID:188155002 UMLS:C0153553|SNOMEDCT:188155002|DOID:13972 http://purl.obolibrary.org/obo/MONDO_0001850 malignant neoplasm of lower-outer quadrant of female breast MONDO:0001855 rubeosis iridis biolink:Disease mondo COHD:440098|UMLS:C0154916|SCTID:51995000|DOID:14000|ICD9:364.42|ICD10:H21.1 UMLS:C0154916|DOID:14000|SNOMEDCT:51995000 http://purl.obolibrary.org/obo/MONDO_0001855 MONDO:0001854 lacrimal apparatus disease biolink:Disease mondo ICD10:H04|ICD9:375.69|NCIT:C26809|ICD9:375.89|DOID:1400|ICD10:H04.9|ICD9:375|ICD9:375.9|SCTID:31053003 A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. DOID:1400|NCIT:C26809|SNOMEDCT:31053003 http://purl.obolibrary.org/obo/MONDO_0001854 disease of lacrimal apparatus|disorder of lacrimal apparatus|disease or disorder of lacrimal apparatus|lachrymal system disorders|lacrimal apparatus disease|lacrimal system disorder|disorder of lacrimal system|lacrimal system disease|lacrimal apparatus disease or disorder|disorder of lacrimal apparatus MONDO:0001853 contact blepharoconjunctivitis biolink:Disease mondo COHD:374959|ICD10:H10.53|SCTID:10813004|UMLS:C0155150|ICD9:372.22|DOID:13999 UMLS:C0155150|DOID:13999|SNOMEDCT:10813004 http://purl.obolibrary.org/obo/MONDO_0001853 MONDO:0001852 small intestine lymphoma biolink:Disease mondo DOID:13996|ICD9:202.80|UMLS:C0278805|NCIT:C4007|SCTID:449074003 A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine. NCIT:C4007|UMLS:C0278805|DOID:13996|SNOMEDCT:449074003 http://purl.obolibrary.org/obo/MONDO_0001852 lymphoma of small bowel|small intestinal lymphoma|small bowel lymphoma|small intestine lymphoma|primary small intestinal lymphoma|lymphoma of the small intestine|lymphoma of small intestine|lymphoma of the small bowel MONDO:0013815 FGFR2-related bent bone dysplasia biolink:Disease mondo UMLS:C3281247|OMIM:614592|GARD:0010965|Orphanet:313855 UMLS:C3281247|ORPHA:313855|http://identifiers.org/omim/614592 http://purl.obolibrary.org/obo/MONDO_0013815 BBDS|bent bone dysplasia syndrome|bent bone dysplasia (BBD)-FGFR2 type|bent bone dysplasia syndrome; BBDS|perinatal lethal bent bone dysplasia ordo_disease MONDO:0013816 obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013816 MONDO:0013813 dystonia 21 biolink:Disease mondo OMIM:614588|Orphanet:306734|UMLS:C3281236|ICD10:G24.1|DOID:0090046 Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. DOID:0090046|UMLS:C3281236|http://identifiers.org/omim/614588|ORPHA:306734 http://purl.obolibrary.org/obo/MONDO_0013813 dystonia 21; DYT21|DYT21|dystonia 21|dystonia type 21|primary dystonia, DYT21 type ordo_disease MONDO:0013814 PDCOS biolink:Disease mondo OMIM:614590 http://identifiers.org/omim/614590 http://purl.obolibrary.org/obo/MONDO_0013814 podoconiosis, susceptibility to|lymphostatic verrucosis, susceptibility to|Nonfilarial elephantiasis of Lower legs, susceptibility to|endemic Nonfilarial elephantiasis, susceptibility to|PDCOS|podoconiosis, susceptibility to; PDCOS MONDO:0013819 intellectual disability, autosomal dominant 14 biolink:Disease mondo DOID:0070044|OMIM:614607|UMLS:C3553247 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene. UMLS:C3553247|DOID:0070044|http://identifiers.org/omim/614607 http://purl.obolibrary.org/obo/MONDO_0013819 autosomal dominant intellectual disability 14|mental retardation, autosomal dominant 14; MRD14|mental retardation, autosomal dominant 14|CSS2|ARID1A Coffin-Siris syndrome|COFFIN-SIRIS syndrome 2; CSS2|intellectual disability, autosomal dominant 14; MRD14|MRD14|Coffin-Siris syndrome caused by mutation in ARID1A|intellectual disability, autosomal dominant 14|autosomal dominant mental retardation 14|mental retardation, autosomal dominant type 14|Coffin-Siris syndrome 2|intellectual disability, autosomal dominant type 14 MONDO:0300000 SSR3-CDG biolink:Disease mondo http://orcid.org/0000-0001-9969-8610 A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure. http://purl.obolibrary.org/obo/MONDO_0300000 SSR3 congenital disorder of glycosylation|SSR3 deficiency CL:0000738 leukocyte biolink:Cell mondo FMA:62852|CALOHA:TS-0549|BTO:0000751 An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/CL_0000738 white blood cell|immune cell|leucocyte MONDO:0013817 preeclampsia/eclampsia 5 biolink:Disease mondo OMIM:614595|UMLS:C3281288 Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. UMLS:C3281288|http://identifiers.org/omim/614595 http://purl.obolibrary.org/obo/MONDO_0013817 Preeclampsia/eclampsia type 5|preeclampsia/eclampsia 5|CORIN preeclampsia|Corin preeclampsia|PEE5|preeclampsia caused by mutation in CORIN|preeclampsia caused by mutation in Corin|PREECLAMPSIA/eclampsia 5; PEE5 MONDO:0013818 trichohepatoenteric syndrome 2 biolink:Disease mondo UMLS:C3281289|OMIM:614602 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene. UMLS:C3281289|http://identifiers.org/omim/614602 http://purl.obolibrary.org/obo/MONDO_0013818 SKIV2L tricho-hepato-enteric syndrome|tricho-hepato-enteric syndrome caused by mutation in SKIV2L|Trichohepatoenteric syndrome 2|THES2|TRICHOHEPATOENTERIC syndrome 2; THES2|Trichohepatoenteric syndrome type 2 HGNC:5358 IRF8 biolink:OntologyClass mondo http://identifiers.org/hgnc/5358 MONDO:0013822 acrodysostosis 2 with or without hormone resistance biolink:Disease mondo UMLS:C3553250|OMIM:614613 Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene. UMLS:C3553250|http://identifiers.org/omim/614613 http://purl.obolibrary.org/obo/MONDO_0013822 ACRDYS2|PDE4D acrodysostosis|acrodysostosis caused by mutation in PDE4D|acrodysostosis 2 with or without hormone resistance; ACRDYS2|acrodysostosis 2 with or without hormone resistance MONDO:0013823 autosomal dominant nonsyndromic deafness 4B biolink:Disease mondo UMLS:C3281297|DOID:0110574|ICD10:H90.3|OMIM:614614 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene. DOID:0110574|UMLS:C3281297|http://identifiers.org/omim/614614 http://purl.obolibrary.org/obo/MONDO_0013823 autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16|deafness, autosomal dominant 4B|deafness, autosomal dominant type 4B|autosomal dominant deafness 4B|deafness, autosomal dominant 4B; DFNA4B|CEACAM16 autosomal dominant nonsyndromic deafness|DFNA4B|autosomal dominant nonsyndromic deafness type 4B HGNC:10602 SCNN1G biolink:OntologyClass mondo http://identifiers.org/hgnc/10602 MONDO:0013820 intellectual disability, autosomal dominant 15 biolink:Disease mondo OMIM:614608|UMLS:C3553248|DOID:0070045 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene. UMLS:C3553248|DOID:0070045|http://identifiers.org/omim/614608 http://purl.obolibrary.org/obo/MONDO_0013820 autosomal dominant mental retardation 15|intellectual disability, autosomal dominant 15|SMARCB1 Coffin-Siris syndrome|mental retardation, autosomal dominant type 15|intellectual disability, autosomal dominant type 15|Coffin-Siris syndrome caused by mutation in SMARCB1|mental retardation, autosomal dominant 15; MRD15|autosomal dominant intellectual disability 15|mental retardation, autosomal dominant 15|CSS3|MRD15|COFFIN-SIRIS syndrome 3; CSS3|COFFIN-SIRIS syndrome 3|intellectual disability, autosomal dominant 15; MRD15 MONDO:0013821 intellectual disability, autosomal dominant 16 biolink:Disease mondo OMIM:614609|UMLS:C3553249|DOID:0070046 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene. UMLS:C3553249|DOID:0070046|http://identifiers.org/omim/614609 http://purl.obolibrary.org/obo/MONDO_0013821 intellectual disability, autosomal dominant 16; MRD16|mental retardation, autosomal dominant type 16|intellectual disability, autosomal dominant 16|Coffin-Siris syndrome caused by mutation in SMARCA4|intellectual disability, autosomal dominant type 16|mental retardation, autosomal dominant 16|MRD16|autosomal dominant intellectual disability 16|mental retardation, autosomal dominant 16; MRD16|CSS4|COFFIN-SIRIS syndrome 4; CSS4|COFFIN-SIRIS syndrome 4|SMARCA4 Coffin-Siris syndrome|autosomal dominant mental retardation 16 CL:0000731 urothelial cell biolink:Cell mondo FMA:84127 A cell of a layer of transitional epithelium in the wall of the bladder, ureter, and renal pelvis, external to the lamina propria. http://purl.obolibrary.org/obo/CL_0000731 transitional epithelial cell of urinary bladder|bladder transitional cell|urinary tract transitional epithelial cell HGNC:10600 SCNN1B biolink:OntologyClass mondo http://identifiers.org/hgnc/10600 MONDO:0001848 Morgagni cataract biolink:Disease mondo SCTID:264443002|COHD:379811|DOID:13964|UMLS:C0152258|ICD9:366.18 A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag. SNOMEDCT:264443002|DOID:13964|UMLS:C0152258 http://purl.obolibrary.org/obo/MONDO_0001848 Morgagnian cataract|hypermature cataract MONDO:0001847 nuclear senile cataract biolink:Disease mondo SCTID:193589009|DOID:13963|COHD:439297|ICD9:366.16 A senile cataract that involves the lens nucleus. SNOMEDCT:193589009|DOID:13963 http://purl.obolibrary.org/obo/MONDO_0001847 Senile nuclear sclerosis|lens nucleus senile cataract|Senile nuclear cataract|senile cataract of lens nucleus CHEBI:6067 isotretinoin biolink:ChemicalSubstance mondo A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases. http://purl.obolibrary.org/obo/CHEBI_6067 isotretinoinum|13-cis-Vitamin A acid|isotretinoina|Neovitamin A acid|isotretinoino|cis-RA|13-cis-retinoic acid|(7E,9E,11E,13Z)-retinoic acid|isotretinoin|13-RA|(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid|Amnesteem|Claravis|Accutane|isotretinoine MONDO:0001846 uterine corpus bizarre leiomyoma biolink:Disease mondo NCIT:C40167|UMLS:C1519853|DOID:13958 A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei. DOID:13958|UMLS:C1519853|NCIT:C40167 http://purl.obolibrary.org/obo/MONDO_0001846 bizarre leiomyoma of body of uterus|uterine corpus leiomyoma, atypical variant|uterine corpus bizarre leiomyoma|body of uterus bizarre leiomyoma|uterine corpus leiomyoma with bizarre nuclei|uterine corpus Symplastic leiomyoma MONDO:0001845 uterine corpus lipoleiomyoma biolink:Disease mondo NCIT:C40168|EFO:1000614|UMLS:C1519856|DOID:13957 A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm. DOID:13957|UMLS:C1519856|NCIT:C40168 http://purl.obolibrary.org/obo/MONDO_0001845 uterine corpus lipomatous leiomyoma HGNC:5351 ICOS biolink:OntologyClass mondo http://identifiers.org/hgnc/5351 MONDO:0001849 chronic orbital inflammation biolink:Disease mondo DOID:1397|ICD10:H05.1|SCTID:44729001|COHD:433773|ICD9:376.1|ICD9:376.10|UMLS:C0155261 UMLS:C0155261|DOID:1397|SNOMEDCT:44729001 http://purl.obolibrary.org/obo/MONDO_0001849 chronic inflammation of orbit MONDO:0001822 hypolipoproteinemia (disease) biolink:Disease mondo DOID:1387|HP:0010981|ICD10:E78.6|MESH:D007009|SCTID:363140000|ICD9:272.5|GARD:0008394 Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins). MESH:D007009|DOID:1387|SNOMEDCT:363140000 http://purl.obolibrary.org/obo/MONDO_0001822 hypolipoproteinemia|lipoprotein deficiencies|hypolipoproteinaemia MONDO:0001821 hypoactive sexual desire disorder biolink:Disease mondo DOID:13868|SCTID:270903007|COHD:443262|ICD10:F52.0|NCIT:C94337|ICD9:302.71 A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition. DOID:13868|NCIT:C94337|SNOMEDCT:270903007 http://purl.obolibrary.org/obo/MONDO_0001821 lack or loss of sexual desire MONDO:0001820 focal labyrinthitis biolink:Disease mondo UMLS:C0155505|DOID:13867|ICD9:386.32|SCTID:61794006 A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. DOID:13867|UMLS:C0155505|SNOMEDCT:61794006 http://purl.obolibrary.org/obo/MONDO_0001820 circumscribed labyrinthitis OIO:hasDbXref database_cross_reference biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#hasDbXref MONDO:0013804 obsolete intellectual disability, autosomal dominant 12 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013804 MONDO:0013805 intellectual disability, autosomal dominant 13 biolink:Disease mondo OMIM:614563|DOID:0070043|UMLS:C3281202 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene. UMLS:C3281202|DOID:0070043|http://identifiers.org/omim/614563 http://purl.obolibrary.org/obo/MONDO_0013805 autosomal dominant intellectual disability 13|MRD13|intellectual disability, autosomal dominant type 13|autosomal dominant non-syndromic intellectual disability 13|mental retardation, autosomal dominant type 13|DYNC1H1 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 13|intellectual disability, autosomal dominant 13; MRD13|mental retardation, autosomal dominant 13; MRD13|intellectual disability, autosomal dominant, 13, with neuronal migration defects|intellectual disability, autosomal dominant 13|mental retardation, autosomal dominant 13, with neuronal migration defects|autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1|mental retardation, autosomal dominant 13|mental retardation, autosomal dominant, 13, with neuronal migration defects|intellectual disability, autosomal dominant 13, with neuronal migration defects MONDO:0013802 infantile cerebellar-retinal degeneration biolink:Disease mondo DOID:0050883|GARD:0013264|OMIM:614559|UMLS:C3281192|ICD10:E88.8|Orphanet:313850 Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms. DOID:0050883|UMLS:C3281192|ORPHA:313850|http://identifiers.org/omim/614559 http://purl.obolibrary.org/obo/MONDO_0013802 infantile cerebellar-retinal degeneration; ICRD|infantile cerebellar-retinal degeneration|infantile cerebellar retinal degeneration|ICRD ordo_disease|gard_rare MONDO:0013803 leukoencephalopathy with calcifications and cysts biolink:Disease mondo Orphanet:542310|UMLS:C3281200|OMIM:614561|MESH:C000598644 ORPHA:542310|UMLS:C3281200|MESH:C000598644|http://identifiers.org/omim/614561 http://purl.obolibrary.org/obo/MONDO_0013803 LCC|leukoencephalopathy, brain calcifications, and cysts|Labrune syndrome|leukoencephalopathy, brain calcifications, and cysts; LCC ordo_disease MONDO:0013808 Maffucci syndrome biolink:Disease mondo ICD10:Q78.4|Orphanet:163634|GARD:0006958|DOID:0060221|UMLS:C0024454|SCTID:46041001|OMIM:614569|NCIT:C3213 Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas. ORPHA:163634|UMLS:C0024454|DOID:0060221|NCIT:C3213|SNOMEDCT:46041001|http://identifiers.org/omim/614569 http://purl.obolibrary.org/obo/MONDO_0013808 Maffucci syndrome|Chondroplasia angiomatosis|Kast syndrome|chondrodysplasia with hemangioma|enchondromatosis with hemangiomata|Maffucci's anomalad|enchondromatosis with multiple cavernous hemangiomas|Dyschondroplasia and cavernous hemangioma|multiple enchondromatosis, Maffucci type|hemangiomata with Dyschondroplasia|hemangiomatosis Chondrodystrophica|multiple Angiomas and Endochondromas|Dyschondrodysplasia with hemangiomas ordo_disease|gard_rare NCBITaxon:64895 Borreliella organism taxon mondo PMID:24744012|PMID:10758897|PMID:27930271|PMID:31836459|PMID:31722850|GC_ID:11|PMID:31454394|PMID:10515907|PMID:7981102|PMID:8934900|PMID:16585709|PMID:8995795|PMID:30586413|PMID:30154058|PMID:8573491|PMID:28141502|PMID:9336916 http://purl.obolibrary.org/obo/NCBITaxon_64895 Lyme Disease Borrelia|Borrelia burgdorferi sensu lato|Borrelia burgdorferi group MONDO:0013809 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome biolink:Disease mondo OMIM:614575|UMLS:C3281223 UMLS:C3281223|http://identifiers.org/omim/614575 http://purl.obolibrary.org/obo/MONDO_0013809 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome|CANVAS|cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; CANVAS MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome biolink:Disease mondo OMIM:614564|Orphanet:313846|UMLS:C3281203 UMLS:C3281203|ORPHA:313846|http://identifiers.org/omim/614564 http://purl.obolibrary.org/obo/MONDO_0013806 cutaneous telangiectasia and cancer syndrome, familial; FCTCS|cutaneous telangiectasia and cancer syndrome, familial|FCTCS|familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome|telangiectasia, cutaneous, and cancer syndrome, familial ordo_disease MONDO:0013807 congenital stationary night blindness 1E biolink:Disease mondo OMIM:614565|DOID:0110869|UMLS:C3281215 Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene. UMLS:C3281215|DOID:0110869|http://identifiers.org/omim/614565 http://purl.obolibrary.org/obo/MONDO_0013807 congenital stationary night blindness type 1E|night blindness, congenital stationary, type 1E|CSNB1E|congenital stationary night blindness caused by mutation in GPR179|GPR179 congenital stationary night blindness|congenital stationary night blindness 1E autosomal recessive|night blindness, congenital stationary, type 1E; CSNB1E|Csnb, complete, autosomal recessive MONDO:0013811 combined oxidative phosphorylation defect type 9 biolink:Disease mondo OMIM:614582|ICD10:I42.2|UMLS:C3281234|Orphanet:319509|SCTID:763209008 Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. UMLS:C3281234|SNOMEDCT:763209008|http://identifiers.org/omim/614582|ORPHA:319509 http://purl.obolibrary.org/obo/MONDO_0013811 combined oxidative phosphorylation deficiency 9; COXPD9|combined oxidative phosphorylation deficiency 9|MRPL3 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MRPL3|combined oxidative phosphorylation deficiency type 9|COXPD9 ordo_disease MONDO:0013812 Baraitser-winter syndrome 2 biolink:Disease mondo UMLS:C3281235|OMIM:614583 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene. UMLS:C3281235|http://identifiers.org/omim/614583 http://purl.obolibrary.org/obo/MONDO_0013812 Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1|Baraitser-Winter syndrome type 2|Baraitser-WINTER syndrome 2; BRWS2|BRWS2|Baraitser-winter syndrome 2|ACTG1 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0013810 COG6-CGD biolink:Disease mondo Orphanet:464443|DOID:0070264|UMLS:C3553230|GARD:0010944|ICD10:E77.8|OMIM:614576 ORPHA:464443|UMLS:C3553230|DOID:0070264|http://identifiers.org/omim/614576 http://purl.obolibrary.org/obo/MONDO_0013810 CDG IIL|congenital disorder of glycosylation type IIL|CDG syndrome type IIL|congenital disorder of glycosylation type 2l|congenital disorder of glycosylation, type IIL|CDGIIl|CDG-IIL|COG6-CDG (CDG-IIL)|congenital disorder of glycosylation, type IIL; CDG2L|CDG2L ordo_disease MONDO:0001815 extrapyramidal and movement disease biolink:Disease mondo DOID:13839|ICD10:G25.9|ICD10:G20-G26|UMLS:C0477355|ICD9:333.90 UMLS:C0477355|DOID:13839 http://purl.obolibrary.org/obo/MONDO_0001815 MONDO:0001814 obsolete patent ductus arteriosus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001814 MONDO:0001813 squamous blepharitis biolink:Disease mondo DOID:13825|ICD9:373.02|ICD10:H01.02|SCTID:58912008|UMLS:C0155174|MEDGEN:509829|COHD:438430|ICD10:H01.021-H01.029 UMLS:C0155174|DOID:13825|SNOMEDCT:58912008 http://purl.obolibrary.org/obo/MONDO_0001813 CHEBI:17883 hydrogen chloride biolink:ChemicalSubstance mondo A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms. http://purl.obolibrary.org/obo/CHEBI_17883 chlorane|HCl|chlorure d'hydrogene|Hydrochloride|chloridohydrogen|Wasserstoffchlorid|Chlorwasserstoff|cloruro de hidrogeno|hydrochloric acid|[HCl]|Hydrogen chloride|Hydrogenchlorid|hydrogen chloride MONDO:0001812 parasitic eyelid infestation biolink:Disease mondo UMLS:C0155183|ICD9:373.6|DOID:13823|SCTID:193922006 UMLS:C0155183|DOID:13823|SNOMEDCT:193922006 http://purl.obolibrary.org/obo/MONDO_0001812 parasitic eyelid infestation|parasitic infestation of eyelid MONDO:0001819 multiple cranial nerve palsy biolink:Disease mondo SCTID:78152008|ICD9:352.6|DOID:13866|ICD10:G52.7|UMLS:C0154733|COHD:437543 SNOMEDCT:78152008|DOID:13866|UMLS:C0154733 http://purl.obolibrary.org/obo/MONDO_0001819 multiple cranial nerve palsies MONDO:0001818 facial neuralgia biolink:Disease mondo SCTID:4151000119102|MESH:D005156|DOID:13865|ICD9:351.8 Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions. SNOMEDCT:4151000119102|DOID:13865|MESH:D005156 http://purl.obolibrary.org/obo/MONDO_0001818 neuralgia of facial nerve|facial nerve neuralgia MONDO:0001817 acute closed-angle glaucoma biolink:Disease mondo ICD9:365.22|ICD10:H40.21|COHD:436108|UMLS:C0154946|DOID:13862|SCTID:30041005 Acute form of angle-closure glaucoma. SNOMEDCT:30041005|DOID:13862|UMLS:C0154946 http://purl.obolibrary.org/obo/MONDO_0001817 acute angle-closure glaucoma|angle-closure glaucoma, acute MONDO:0001816 scleroperikeratitis biolink:Disease mondo COHD:432637|ICD9:379.05|SCTID:42574005|UMLS:C0155355|ICD10:H15.04|DOID:13861 SNOMEDCT:42574005|DOID:13861|UMLS:C0155355 http://purl.obolibrary.org/obo/MONDO_0001816 scleritis with corneal involvement MONDO:0001833 lacrimal duct obstruction biolink:Disease mondo MESH:D007767|SCTID:416920000|DOID:13929 Blockage of the tear duct. MESH:D007767|DOID:13929|SNOMEDCT:416920000|NCIT:C34757 http://purl.obolibrary.org/obo/MONDO_0001833 obstruction of lacrimal canaliculus|blocked lacrimal canaliculus|obstruction of lacrimal ducts MONDO:0001832 bacterial esophagitis biolink:Disease mondo DOID:13921|UMLS:C0341108|NCIT:C27106|SCTID:235601001 An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations. SNOMEDCT:235601001|UMLS:C0341108|NCIT:C27106|DOID:13921 http://purl.obolibrary.org/obo/MONDO_0001832 bacterial esophagitis MONDO:0001831 irregular astigmatism biolink:Disease mondo UMLS:C0152194|SCTID:47099006|DOID:13919|COHD:377558|ICD10:H52.21|ICD9:367.22 SNOMEDCT:47099006|DOID:13919|UMLS:C0152194 http://purl.obolibrary.org/obo/MONDO_0001831 MONDO:0001830 somatization disorder biolink:Disease mondo ICD10:F45.0|ICD9:300.81|DOID:13918|COHD:441545|SCTID:397923000 Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V) DOID:13918|SNOMEDCT:397923000 http://purl.obolibrary.org/obo/MONDO_0001830 Polysomatising disorder|Briquet's disorder|Somatisation disorder CL:0000710 neurecto-epithelial cell biolink:Cell mondo BTO:0004301|FMA:70557 Epithelial cells derived from neural plate and neural crest. http://purl.obolibrary.org/obo/CL_0000710 neuroepithelial cell UBERON:0010425 internal naris biolink:AnatomicalEntity mondo A naris that is located inside the nasal cavity and connects to the pharynx. http://purl.obolibrary.org/obo/UBERON_0010425 internal choana|internal nostril|choana|choanae|internal nares UBERON:0010426 oropharyngeal choana biolink:AnatomicalEntity mondo opening/conduit between the nasal cavity and the oropharynx via the roof of the mouth. http://purl.obolibrary.org/obo/UBERON_0010426 palatal cleft|oropharyngeal naris|apertura nasalis interna|cleft palate|palatal choana|choana of oropharynx UBERON:0010424 distal segment of rib biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010424 distal rib segment|vertical segment of rib|distal rib|sternal rib|distal part of rib MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type biolink:Disease mondo ICD10:Q79.6|UMLS:C3281160|Orphanet:300179|OMIM:614557|SCTID:720859009 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. UMLS:C3281160|ORPHA:300179|http://identifiers.org/omim/614557|SNOMEDCT:720859009 http://purl.obolibrary.org/obo/MONDO_0013800 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|EDS, kyphoscoliotic and hearing loss type|EDSKMH|Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type|EDSKSCL2|Ehlers-Danlos syndrome, kyphoscoliotic type, 2; EDSKSCL2|EDS with progressive kyphoscoliosis, myopathy, and hearing loss|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|Ehlers-Danlos syndrome, kyphoscoliotic type, 2|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|EDS with progressive kyphoscoliosis, myopathy, and deafness|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH ordo_disease MONDO:0013801 developmental and epileptic encephalopathy, 13 biolink:Disease mondo OMIM:614558|SCTID:765170001|UMLS:C3281191|GARD:0013085 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene. SNOMEDCT:765170001|UMLS:C3281191|http://identifiers.org/omim/614558 http://purl.obolibrary.org/obo/MONDO_0013801 early infantile epileptic encephalopathy caused by mutation in SCN8A|SCN8A encephalopathy|epileptic encephalopathy, early infantile, 13; EIEE13|epileptic encephalopathy, early infantile, 13|SCN8A epilepsy|DEE13|epileptic encephalopathy, early infantile, type 13|early infantile epileptic encephalopathy-13|EIEE13|SCN8A early infantile epileptic encephalopathy UBERON:0010427 ciliary processes biolink:AnatomicalEntity mondo The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. http://purl.obolibrary.org/obo/UBERON_0010427 processus ciliares|ciliary process|set of ciliary processes|processus ciliares|ciliary processes set|ciliary processes UBERON:0010428 flat bone biolink:AnatomicalEntity mondo A bone that is shaped as a broad flat plate and composed of two thin layers of compact tissue enclosing between them a variable quantity of cancellous tissue, which is the location of red bone marrow. http://purl.obolibrary.org/obo/UBERON_0010428 os planum MONDO:0001826 obsolete hypobetalipoproteinemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001826 MONDO:0001825 squamous papilloma biolink:Disease mondo EFO:1001970|ICDO:8052/0|DOID:139|NCIT:C3712|UMLS:C0205874 A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva. UMLS:C0205874|NCIT:C3712|DOID:139 http://purl.obolibrary.org/obo/MONDO_0001825 epidermoid cell papilloma|epidermoid papilloma|papilloma, squamous cell, benign|keratotic papilloma|squamous papilloma|squamous cell papilloma|squamous cell papilloma (morphologic abnormality) MONDO:0001824 polyneuropathy biolink:Disease mondo DOID:1389|UMLS:C0152025|ICD9:356.9|MESH:D011115|COHD:4174262|ICD9:357.4|ICD10:G62.9|SCTID:42345000|ICD10:A69.22|NCIT:C26951 A disease or disorder affecting more than one nerve. SNOMEDCT:42345000|MESH:D011115|DOID:1389|UMLS:C0152025|NCIT:C26951 http://purl.obolibrary.org/obo/MONDO_0001824 polyneuropathy MONDO:0001823 sick sinus syndrome biolink:Disease mondo ICD10:I49.5|OMIMPS:608567|MESH:D012804|DOID:13884|COHD:4261842|NCIT:C62244|SCTID:36083008 A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction. NCIT:C62244|MESH:D012804|SNOMEDCT:36083008|DOID:13884 http://purl.obolibrary.org/obo/MONDO_0001823 SSS|sinus node infection MONDO:0001829 lumbosacral plexus lesion biolink:Disease mondo COHD:197852|SCTID:4062006|UMLS:C0154735|DOID:13913|ICD9:353.1 A nerve plexus disease that involves the lumbosacral nerve plexus. SNOMEDCT:4062006|DOID:13913|UMLS:C0154735 http://purl.obolibrary.org/obo/MONDO_0001829 nerve plexus disease of lumbosacral nerve plexus|lumbosacral plexus lesions|lumbosacral nerve plexus nerve plexus disease MONDO:0001828 acquired color blindness biolink:Disease mondo COHD:377865|DOID:13912|ICD9:368.55|NCIT:C118712|SCTID:71676008|ICD10:H53.52 Non-heritable difficulty in distinguishing colors. NCIT:C118712|DOID:13912|SNOMEDCT:71676008 http://purl.obolibrary.org/obo/MONDO_0001828 acquired color vision deficiency|acquired color vision deficiencies|acquired color vision disorder MONDO:0001827 white piedra biolink:Disease mondo UMLS:C0040249|DOID:13902|SCTID:35586003|ICD9:111.2|ICD10:B36.2|COHD:132834 A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts. UMLS:C0040249|DOID:13902|SNOMEDCT:35586003 http://purl.obolibrary.org/obo/MONDO_0001827 Tinea blanca GO:0003677 DNA binding biolink:OntologyClass mondo Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/GO_0003677 structure specific DNA binding|plasmid binding|structure-specific DNA binding|microtubule/chromatin interaction GO:0003674 molecular_function biolink:OntologyClass mondo A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process. http://purl.obolibrary.org/obo/GO_0003674 molecular function GO:0003676 nucleic acid binding biolink:OntologyClass mondo Interacting selectively and non-covalently with any nucleic acid. http://purl.obolibrary.org/obo/GO_0003676 base pairing OIO:consider consider biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#consider GO:0015669 gas transport biolink:OntologyClass mondo The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015669 NCBITaxon:356 Rhizobiales organism taxon mondo GC_ID:11|PMID:16403855|PMID:1854635 http://purl.obolibrary.org/obo/NCBITaxon_356 alpha-2 proteobacteria|rhizobacteria|Rhizobiaceae group CHEBI:27177 L-tyrosine derivative biolink:ChemicalSubstance mondo A proteinogenic amino acid derivative resulting from reaction of L-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-tyrosine by a heteroatom. http://purl.obolibrary.org/obo/CHEBI_27177 L-tyrosine derivatives NCBITaxon:3398 Magnoliopsida organism taxon mondo GC_ID:1|PMID:25249442 http://purl.obolibrary.org/obo/NCBITaxon_3398 angiosperms|Angiospermae|Magnoliophyta|flowering plants|flowering plants HGNC:7905 NPHP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7905 HGNC:7907 NPHP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7907 HP:0012393 Allergy biolink:PhenotypicFeature mondo MSH:D006967|SNOMEDCT_US:419076005|UMLS:C1527304 An allergy is an immune response or reaction to substances that are usually not harmful. http://purl.obolibrary.org/obo/HP_0012393 Allergy HGNC:7908 NPHS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7908 NCBITaxon:2560066 Matonaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2560066 NCBITaxon:2560076 Orthoparamyxovirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2560076 GO:1904409 regulation of secretory granule organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of secretory granule organization. http://purl.obolibrary.org/obo/GO_1904409 regulation of secretory granule organisation|regulation of secretory granule organization and biogenesis UBERON:0009503 mesenchyme of hindgut biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing hindgut. http://purl.obolibrary.org/obo/UBERON_0009503 hindgut associated mesenchyme CHEBI:27171 organic heterobicyclic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_27171 heterobicyclic compounds|organic heterobicyclic compounds UBERON:0009504 mesenchyme of main bronchus biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing main bronchus. http://purl.obolibrary.org/obo/UBERON_0009504 main bronchus associated mesenchyme|primary bronchus mesenchyme|principal bronchus mesenchyme UBERON:0009505 mesenchyme of trachea biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing trachea. http://purl.obolibrary.org/obo/UBERON_0009505 trachea associated mesenchyme UBERON:0009506 mesenchyme of middle ear biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing middle ear. http://purl.obolibrary.org/obo/UBERON_0009506 middle ear associated mesenchyme|otic mesenchyme CHEBI:39144 Lewis base biolink:ChemicalSubstance mondo A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct. http://purl.obolibrary.org/obo/CHEBI_39144 base de Lewis|electron donor|Lewis-Base|Lewis base|donneur d'une paire d'electrons CHEBI:39142 Bronsted base biolink:ChemicalSubstance mondo A molecular entity capable of accepting a hydron from a donor (Bronsted acid). http://purl.obolibrary.org/obo/CHEBI_39142 Bronsted base|accepteur d'hydron|base de Bronsted|Bronsted-Base|hydron acceptor CHEBI:39141 Bronsted acid biolink:ChemicalSubstance mondo A molecular entity capable of donating a hydron to an acceptor (Bronsted base). http://purl.obolibrary.org/obo/CHEBI_39141 acide de Bronsted|hydron donor|Bronsted acid|Bronsted-Saeure|donneur d'hydron NCBITaxon:2560074 Mammantavirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2560074 UBERON:0009500 periotic mesenchyme biolink:AnatomicalEntity mondo Anatomical region that surrounds the otic vesicle. http://purl.obolibrary.org/obo/UBERON_0009500 otocyst mesenchyme|periotic region|otocyst associated mesenchyme UBERON:0009501 mesenchyme of fronto-nasal process biolink:AnatomicalEntity mondo The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head http://purl.obolibrary.org/obo/UBERON_0009501 frontonasal mesenchyme|naso-frontal mesenchyme CL:0000787 memory B cell biolink:Cell mondo A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative. http://purl.obolibrary.org/obo/CL_0000787 memory B lymphocyte|memory B-lymphocyte|memory B-cell CL:0000788 naive B cell biolink:Cell mondo A naive B cell is a mature B cell that has the phenotype surface IgD-positive, surface IgM-positive, CD20-positive, CD27-negative and that has not yet been activated by antigen in the periphery. http://purl.obolibrary.org/obo/CL_0000788 naive B-cell|naive B lymphocyte|naive B-lymphocyte CL:0000789 alpha-beta T cell biolink:Cell mondo A T cell that expresses an alpha-beta T cell receptor complex. http://purl.obolibrary.org/obo/CL_0000789 alpha-beta T lymphocyte|alpha-beta T-lymphocyte|alpha-beta T-cell HGNC:7939 NPPA biolink:OntologyClass mondo http://identifiers.org/hgnc/7939 GO:1904411 positive regulation of secretory granule organization biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of secretory granule organization. http://purl.obolibrary.org/obo/GO_1904411 activation of secretory granule organisation|upregulation of secretory granule organization and biogenesis|up regulation of secretory granule organization|activation of secretory granule organization and biogenesis|upregulation of secretory granule organisation|up-regulation of secretory granule organization|activation of secretory granule organization|positive regulation of secretory granule organisation|up-regulation of secretory granule organization and biogenesis|up regulation of secretory granule organisation|up regulation of secretory granule organization and biogenesis|upregulation of secretory granule organization|up-regulation of secretory granule organisation|positive regulation of secretory granule organization and biogenesis CHEBI:29793 hydridodioxygen(1+) biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_29793 [HO2](+)|hydridodioxygen(1+)|dioxidenium|HOO(+)|HO2(+) GO:1904410 negative regulation of secretory granule organization biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization. http://purl.obolibrary.org/obo/GO_1904410 negative regulation of secretory granule organization and biogenesis|down regulation of secretory granule organisation|down-regulation of secretory granule organization and biogenesis|inhibition of secretory granule organisation|down-regulation of secretory granule organisation|down regulation of secretory granule organization and biogenesis|negative regulation of secretory granule organisation|downregulation of secretory granule organization|downregulation of secretory granule organization and biogenesis|down regulation of secretory granule organization|inhibition of secretory granule organization|down-regulation of secretory granule organization|downregulation of secretory granule organisation|inhibition of secretory granule organization and biogenesis CL:0000782 myeloid dendritic cell biolink:Cell mondo BTO:0004721 A dendritic cell of the myeloid lineage. http://purl.obolibrary.org/obo/CL_0000782 veiled cell|mDC|CD11c+CD123- DC|interdigitating cell HGNC:7944 NPR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7944 CL:0000785 mature B cell biolink:Cell mondo A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. http://purl.obolibrary.org/obo/CL_0000785 mature B-cell|mature B lymphocyte|mature B-lymphocyte CL:0000786 plasma cell biolink:Cell mondo FMA:70574|BTO:0000392 A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. http://purl.obolibrary.org/obo/CL_0000786 plasmacyte|effector B cell|plasmocyte|effector B-cell|plasma B cell|plasma B-cell NCBITaxon:144051 Cripavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_144051 Cricket paralysis-like viruses GO:1904427 positive regulation of calcium ion transmembrane transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transport. http://purl.obolibrary.org/obo/GO_1904427 up-regulation of calcium ion transmembrane transport|upregulation of transmembrane calcium transport|positive regulation of calcium ion membrane transport|up regulation of calcium ion transmembrane transport|up regulation of calcium ion membrane transport|activation of calcium ion transmembrane transport|activation of calcium ion membrane transport|up-regulation of calcium ion membrane transport|up-regulation of transmembrane calcium transport|upregulation of calcium ion transmembrane transport|up regulation of transmembrane calcium transport|activation of transmembrane calcium transport|positive regulation of transmembrane calcium transport|upregulation of calcium ion membrane transport CL:0000790 immature alpha-beta T cell biolink:Cell mondo An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T-lymphocyte|immature alpha-beta T-cell|immature alpha-beta T lymphocyte CL:0000791 mature alpha-beta T cell biolink:Cell mondo A alpha-beta T cell that has a mature phenotype. http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T-cell|mature alpha-beta T lymphocyte|mature alpha-beta T-lymphocyte NCBITaxon:119088 Enoplea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_119088 NCBITaxon:119089 Chromadorea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_119089 Adenophorea HP:0000359 Abnormality of the inner ear biolink:PhenotypicFeature mondo UMLS:C4021809 An abnormality of the inner ear. http://purl.obolibrary.org/obo/HP_0000359 Inner ear abnormality|Abnormality of the inner ear MONDO:0023272 goniodysgenesis mental retardation short stature biolink:Disease mondo GARD:0002545 http://purl.obolibrary.org/obo/MONDO_0023272 gard_rare MONDO:0023273 pigmented dermatofibrosarcoma protuberans biolink:Disease mondo NCIT:C9430|UMLS:C0334464|SCTID:398670003|GARD:0009624 A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells. UMLS:C0334464|SNOMEDCT:398670003|NCIT:C9430 http://purl.obolibrary.org/obo/MONDO_0023273 Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)|pigmented dermatofibrosarcoma protuberans|DFSPs, Pigmented|Pigmented storiform neurofibroma|Dermatofibrosarcoma Protuberan, Pigmented|Protuberan, Pigmented Dermatofibrosarcoma|Tumor, Bednar|Pigmented Dermatofibrosarcoma Protuberans|Pigmented dermatofibrosarcoma protuberans of skin|Pigmented DFSPs|Bednar tumor|Tumor, Bednar's|Pigmented Dermatofibrosarcoma Protuberan|Dermatofibrosarcoma Protuberans, Pigmented|Protuberans, Pigmented Dermatofibrosarcoma|Bednar's Tumor|bednar tumor|DFSP, Pigmented|pigmented dermatofibrosarcoma protuberans (bednar tumor)|Pigmented dermatofibrosarcoma|Bednar Tumor|Bednars Tumor|Pigmented DFSP|Pigmented dermatofibrosarcoma protuberans gard_rare MONDO:0023275 Graham-Boyle-Troxell syndrome biolink:Disease mondo ICD10:Q85.8|SCTID:707530009|ICD9:759.6|MESH:C537292|Orphanet:2111|GARD:0002557|UMLS:C2931468 Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. UMLS:C2931468|ORPHA:2111|MESH:C537292|SNOMEDCT:707530009 http://purl.obolibrary.org/obo/MONDO_0023275 cystic hamartoma of lung and kidney|graham Boyle Troxell syndrome|cystic hamartomata of lung and kidney|Graham-Boyle-Troxell syndrome ordo_disease|gard_rare MONDO:0011298 SCZD8 biolink:Disease mondo DOID:0070084|UMLS:C1864124|OMIM:603206 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p. UMLS:C1864124|DOID:0070084|http://identifiers.org/omim/603206 http://purl.obolibrary.org/obo/MONDO_0011298 schizophrenia 8 with or without an affective disorder|schizophrenia 8; SCZD8|SCZD8|schizophrenia 8|schizophrenia susceptibility locus, chromosome 18-related MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 biolink:Disease mondo UMLS:C1864125|OMIM:603204|MESH:C566400|DOID:0060683 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24. UMLS:C1864125|MESH:C566400|DOID:0060683|http://identifiers.org/omim/603204 http://purl.obolibrary.org/obo/MONDO_0011297 nocturnal frontal lobe epilepsy 2|ENFL2|autosomal dominant nocturnal frontal lobe epilepsy type 2|epilepsy, nocturnal frontal lobe, 2|epilepsy, nocturnal frontal lobe, 2; ENFL2 MONDO:0011299 Huntington disease-like 1 biolink:Disease mondo Orphanet:157941|DOID:0090103|UMLS:C1864112|OMIM:603218|ICD10:G10|MESH:C566398 Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene. http://identifiers.org/omim/603218|UMLS:C1864112|ORPHA:157941|MESH:C566398|DOID:0090103 http://purl.obolibrary.org/obo/MONDO_0011299 HLN1|Huntington disease-like 1|Huntington-like neurodegenerative disorder, autosomal dominant|Huntington disease-like type 1|Huntington-like neurodegenerative disorder 1|HDL1|prion disease, early-onset, with prominent psychiatric features|autosomal dominant Huntington-like neurodegenerative disorder|Huntington-like neurodegenerative disorder 1|Huntington disease-like 1; HDL1|early-onset prion disease with prominent psychiatric features|PRNP neurodegenerative disease with chorea|neurodegenerative disease with chorea caused by mutation in PRNP|Huntington's disease-like 1 ordo_disease MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation biolink:Disease mondo UMLS:C1864183|OMIM:603133|MESH:C566408 MESH:C566408|http://identifiers.org/omim/603133|UMLS:C1864183 http://purl.obolibrary.org/obo/MONDO_0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation|dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability MONDO:0011292 dermatitis, atopic biolink:Disease mondo COHD:133834|OMIM:603165 http://identifiers.org/omim/603165 http://purl.obolibrary.org/obo/MONDO_0011292 Atod|dermatitis, Atopic, 1|eczema, Atopic|dermatitis, atopic MONDO:0011291 congenital disorder of glycosylation type 1C biolink:Disease mondo Orphanet:79320|SCTID:709412006|OMIM:603147|UMLS:C2930997|GARD:0009829|MESH:C535741|ICD10:E77.8|NCIT:C126869 (1p31.3). UMLS:C2930997|SNOMEDCT:709412006|ORPHA:79320|MESH:C535741|http://identifiers.org/omim/603147|NCIT:C126869 http://purl.obolibrary.org/obo/MONDO_0011291 congenital disorder of glycosylation, type Ic|carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)|ALG6-CDG|carbohydrate-deficient glycoprotein syndrome, type V, formerly|CDGIc|carbohydrate-deficient glycoprotein syndrome, type V|ALG6-CDG (CDG-Ic)|carbohydrate-deficient glycoprotein syndrome type 1C|CDG 1C|CDG syndrome type Ic|congenital disorder of glycosylation type Ic|CDGS5 (formerly)|carbohydrate-deficient glycoprotein syndrome, type V (formerly)|glucosyltransferase 1 deficiency|CDG1C|CDG Ic|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|ALG6 congenital disorder of glycosylation|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide|congenital disorder of glycosylation, type Ic; CDG1C|congenital disorder of glycosylation caused by mutation in ALG6|congenital disorder of glycosylation type 1c|carbohydrate deficient glycoprotein syndrome type Ic|CDG-Ic ordo_disease MONDO:0011294 SCZD5 biolink:Disease mondo DOID:0070081|OMIM:603175|UMLS:C1864153 A schizophrenia that has material basis in a mutation on chromosome 6q13-q26. DOID:0070081|http://identifiers.org/omim/603175|UMLS:C1864153 http://purl.obolibrary.org/obo/MONDO_0011294 schizophrenia 5|SCZD5|schizophrenia 5 with or without an affective disorder|schizophrenia 5; SCZD5|schizophrenia susceptibility locus, chromosome 6Q-related MONDO:0011293 Homocysteinemia biolink:Disease mondo OMIM:603174|GARD:0008230|UMLS:C3495426 UMLS:C3495426|http://identifiers.org/omim/603174 http://purl.obolibrary.org/obo/MONDO_0011293 Homocysteinemia|hyperhomocysteinemia gard_rare MONDO:0011296 Meckel syndrome, type 2 biolink:Disease mondo MESH:C536131|DOID:0070116|UMLS:C1864148|ICD10:Q61.9|OMIM:603194|GARD:0008743 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. DOID:0070116|MESH:C536131|http://identifiers.org/omim/603194|UMLS:C1864148 http://purl.obolibrary.org/obo/MONDO_0011296 Meckel syndrome caused by mutation in TMEM216|Meckel syndrome 2|Meckel-Gruber syndrome, type 2|Meckel syndrome type 2|Meckel syndrome, type 2; MKS2|MKS2|TMEM216 Meckel syndrome|Meckel syndrome, type 2 gard_rare MONDO:0011295 SCZD7 biolink:Disease mondo DOID:0070083|OMIM:603176 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32. DOID:0070083|http://identifiers.org/omim/603176 http://purl.obolibrary.org/obo/MONDO_0011295 SCZD7|schizophrenia 7|schizophrenia 7 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 13Q-related|schizophrenia 7; SCZD7 NCBITaxon:119093 Trichuridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_119093 MONDO:0023267 goldstein hutt syndrome biolink:Disease mondo MESH:C537282|UMLS:C2931465 UMLS:C2931465|MESH:C537282 http://purl.obolibrary.org/obo/MONDO_0023267 trichomegaly, cataract, and hereditary spherocytosis|long eyelashes, cataract, and hereditary spherocytosis HP:0012332 Abnormal autonomic nervous system physiology biolink:PhenotypicFeature mondo UMLS:C4022952 A functional abnormality of the autonomic nervous system. http://purl.obolibrary.org/obo/HP_0012332 Autonomic dysregulation|Autonomic dysfunction|Dysautonomia NCBITaxon:15957 Phleum pratense organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_15957 timothy|timothy grass NCBITaxon:119095 Capillaria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_119095 HP:0012337 Abnormal homeostasis biolink:PhenotypicFeature mondo UMLS:C4022950|MP:0001764 An anomaly in the processes involved in the maintenance of an internal equilibrium. http://purl.obolibrary.org/obo/HP_0012337 NCBITaxon:15956 Phleum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_15956 MONDO:0023263 glyceraldehyde-3-phosphate dehydrogenase deficiency biolink:Disease mondo MESH:C536837|GARD:0002510|HGNC:4141|UMLS:C1291264 UMLS:C1291264|MESH:C536837 http://purl.obolibrary.org/obo/MONDO_0023263 GAPDH deficiency gard_rare MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome biolink:Disease mondo GARD:0009506|Orphanet:85199|MESH:C536789|OMIM:603116|ICD10:Q87.8|SCTID:720812002 Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). http://identifiers.org/omim/603116|SNOMEDCT:720812002|ORPHA:85199|MESH:C536789 http://purl.obolibrary.org/obo/MONDO_0011287 craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations|Cap syndrome|CDAGS syndrome|craniosynostosis, anal anomalies, and porokeratosis|CAP syndrome ordo_malformation_syndrome MONDO:0011286 autosomal recessive nonsyndromic deafness 13 biolink:Disease mondo OMIM:603098|ICD10:H90.3|MESH:C566410|DOID:0110468|UMLS:C1864199 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36. http://identifiers.org/omim/603098|UMLS:C1864199|MESH:C566410|DOID:0110468 http://purl.obolibrary.org/obo/MONDO_0011286 autosomal recessive nonsyndromic deafness type 13|autosomal recessive deafness 13|DFNB13|deafness, autosomal recessive 13; DFNB13|deafness, autosomal recessive 13 HP:0000365 Hearing impairment biolink:PhenotypicFeature mondo SNOMEDCT_US:103276001|SNOMEDCT_US:343087000|SNOMEDCT_US:95828007|SNOMEDCT_US:15188001|Fyler:4868|MSH:D034381|UMLS:C0339789|UMLS:C0011053|MSH:D003638|UMLS:C0018772|UMLS:C1384666 A decreased magnitude of the sensory perception of sound. http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment|Hypacusis|Hypoacusis|Deafness|Hearing defect|Hearing loss MONDO:0011289 apraxia of eyelid opening biolink:Disease mondo OMIM:603119 http://identifiers.org/omim/603119 http://purl.obolibrary.org/obo/MONDO_0011289 apraxia of eyelid opening HP:0000364 Hearing abnormality biolink:PhenotypicFeature mondo UMLS:C4025860 An abnormality of the sensory perception of sound. http://purl.obolibrary.org/obo/HP_0000364 Abnormal hearing|Hearing abnormality MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal biolink:Disease mondo MESH:C566409|UMLS:C1864185|OMIM:603117 http://identifiers.org/omim/603117|UMLS:C1864185|MESH:C566409 http://purl.obolibrary.org/obo/MONDO_0011288 spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal HP:0000366 Abnormality of the nose biolink:PhenotypicFeature mondo UMLS:C2235909|SNOMEDCT_US:128274005|UMLS:C0240547|UMLS:C0265736|SNOMEDCT_US:72089000 An abnormality of the nose. http://purl.obolibrary.org/obo/HP_0000366 Nasal malformation|Nasal abnormality|Abnormality of the nose|Nasal anomaly|Anomaly of the nose|Deformity of the nose|Malformation of the nose|Nasal deformity hposlim_core MONDO:0011281 congenital myasthenic syndrome 5 biolink:Disease mondo UMLS:C1864233|MESH:C566415|NCIT:C129304|DOID:0110667|OMIM:603034 Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner. NCIT:C129304|MESH:C566415|DOID:0110667|http://identifiers.org/omim/603034|UMLS:C1864233 http://purl.obolibrary.org/obo/MONDO_0011281 endplate acetylcholinesterase deficiency|EAD|congenital myasthenic syndrome Engel type|myasthenic syndrome, congenital, 5|congenital myasthenic syndrome type 5|Cms Ic, formerly|CMS Ic|congenital myasthenic syndrome type Ic, formerly|congenital myasthenic syndrome type Ic|end plate acetylcholinesterase deficiency|Cms Ic|CMS5|myasthenic syndrome, congenital, type 5|COLQ congenital myasthenic syndrome|myasthenic syndrome, congenital, 5; CMS5|myasthenic syndrome, congenital, Engel type|Engel congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in COLQ|CMS5 BFO:0000167 has participant at all times biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000167 MONDO:0011280 SCZD6 biolink:Disease mondo OMIM:603013|UMLS:C1864275|DOID:0070082 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21. DOID:0070082|http://identifiers.org/omim/603013|UMLS:C1864275 http://purl.obolibrary.org/obo/MONDO_0011280 SCZD6|schizophrenia susceptibility locus, chromosome 8P-related|schizophrenia 6|schizophrenia 6; SCZD6 MONDO:0011283 mitochondrial DNA depletion syndrome 1 biolink:Disease mondo DOID:0080119|OMIM:603041 DOID:0080119|http://identifiers.org/omim/603041 http://purl.obolibrary.org/obo/MONDO_0011283 mitochondrial DNA depletion syndrome type 1|myoneurogastrointestinal encephalopathy syndrome|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mitochondrial DNA depletion syndrome 1 (MNGIE type)|MTDPS1|Polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|Mngie, tymp-related|mitochondrial DNA depletion syndrome 1 (MNGIE type); MTDPS1 MONDO:0011282 tumor suppressor gene on chromosome 11 biolink:Disease mondo OMIM:603040|UMLS:C1864232 UMLS:C1864232|http://identifiers.org/omim/603040 http://purl.obolibrary.org/obo/MONDO_0011282 tumor suppressor Gene on chromosome type 11|Nonsmall cell lung cancer suppressor|tumor suppressor gene on chromosome 11|Tsg11 MONDO:0011285 age related macular degeneration 1 biolink:Disease mondo DOID:0110014|OMIM:603075|UMLS:C1864205|MESH:C566411 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. UMLS:C1864205|MESH:C566411|DOID:0110014|http://identifiers.org/omim/603075 http://purl.obolibrary.org/obo/MONDO_0011285 age related maculopathy 1|age related macular degeneration type 1|ARMD1|macular degeneration, age-related, 1|maculopathy, age-related, 1|macular degeneration, age-related, 1; ARMD1|macular Degeneration, age-related, type 1 MONDO:0011284 astigmatism (disease) biolink:Disease mondo OMIM:603047|UMLS:C0004106|CSP:1116-1831|DOID:11782|HP:0000483|SCTID:82649003|ICD9:367.2|COHD:378424|ICD10:H52.2|ICD10:H52.20|ICD9:367.20|MESH:D001251 Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed) UMLS:C0004106|DOID:11782|SNOMEDCT:82649003|MESH:D001251|http://identifiers.org/omim/603047 http://purl.obolibrary.org/obo/MONDO_0011284 astigmatism HP:0000360 Tinnitus biolink:PhenotypicFeature mondo UMLS:C0040264|MSH:D014012|SNOMEDCT_US:162349004|SNOMEDCT_US:162352007|SNOMEDCT_US:60862001 Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. http://purl.obolibrary.org/obo/HP_0000360 Ringing in the ears|Ringing in ears hposlim_core MONDO:0023255 glossopalatine ankylosis micrognathia ear anomalies biolink:Disease mondo GARD:0002495 http://purl.obolibrary.org/obo/MONDO_0023255 gard_rare NCBITaxon:119060 Burkholderiaceae organism taxon mondo GC_ID:11|PMID:16403855 http://purl.obolibrary.org/obo/NCBITaxon_119060 Burkholderia group HP:0012323 Sleep myoclonus biolink:PhenotypicFeature mondo SNOMEDCT_US:34101000119105|MSH:D009207|UMLS:C0751352 Myoclonus that occurs during the initial phases of sleep. http://purl.obolibrary.org/obo/HP_0012323 MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation biolink:Disease mondo MESH:C536831|HGNC:4061|UMLS:C2931345|GARD:0002501 Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. MESH:C536831|UMLS:C2931345 http://purl.obolibrary.org/obo/MONDO_0023258 SLC37A4 glycogen storage disease I|glycogen storage disease I caused by mutation in SLC37A4|G6P translocase deficiency|glucose-6-phosphate translocase deficiency gard_rare NCBITaxon:119068 Spirillaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_119068 Spirillum group HGNC:20093 ADSS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20093 MONDO:0023250 global disaccharide intolerance biolink:Disease mondo GARD:0008386 http://purl.obolibrary.org/obo/MONDO_0023250 gard_rare MONDO:0011276 orofacial cleft 2 biolink:Disease mondo MESH:C566419|OMIM:602966|UMLS:C1864323 UMLS:C1864323|http://identifiers.org/omim/602966|MESH:C566419 http://purl.obolibrary.org/obo/MONDO_0011276 orofacial cleft 2|OFC2|orofacial cleft 2; OFC2|cleft lip with or without cleft palate, nonsyndromic, 2 MONDO:0011275 acromesomelic dysplasia, Maroteaux type biolink:Disease mondo DOID:0080050|GARD:0000507|SCTID:718559000|ICD10:Q77.8|Orphanet:40|OMIM:602875|MESH:C535661 A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. ORPHA:40|UMLS:C1864356|http://identifiers.org/omim/602875|DOID:0080050|SNOMEDCT:718559000|MESH:C535661 http://purl.obolibrary.org/obo/MONDO_0011275 acromesomelic dysplasia, Maroteaux type; AMDM|acromesomelic dwarfism Maroteux type|acromesomelic dysplasia Maroteaux type|St. Helena dysplasia|acromesomelic dysplasia, Maroteaux type|AMDM gard_rare|ordo_malformation_syndrome MONDO:0011278 bile duct cysts biolink:Disease mondo SCTID:397868007|OMIM:603003|GARD:0009229|ICD9:576.8 SNOMEDCT:397868007|http://identifiers.org/omim/603003 http://purl.obolibrary.org/obo/MONDO_0011278 choledochal cysts|choledochocele|bile duct cysts MONDO:0011277 obsolete leukoregulin biolink:Disease mondo OMIM:602994 http://identifiers.org/omim/602994 http://purl.obolibrary.org/obo/MONDO_0011277 leukoregulin MONDO:0011279 autosomal recessive nonsyndromic deafness 17 biolink:Disease mondo UMLS:C1864276|ICD10:H90.3|MESH:C566418|DOID:0110472|OMIM:603010 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31. DOID:0110472|http://identifiers.org/omim/603010|UMLS:C1864276|MESH:C566418 http://purl.obolibrary.org/obo/MONDO_0011279 deafness, autosomal recessive 17; DFNB17|autosomal recessive nonsyndromic deafness type 17|DFNB17|deafness, autosomal recessive 17|autosomal recessive deafness 17 ENVO:02000140 fluid environmental material biolink:OntologyClass mondo A liquid or a gas. http://purl.obolibrary.org/obo/ENVO_02000140 fluid MONDO:0011270 prostate cancer, hereditary, 8 biolink:Disease mondo OMIM:602759|MESH:C566426|UMLS:C1864472 UMLS:C1864472|http://identifiers.org/omim/602759|MESH:C566426 http://purl.obolibrary.org/obo/MONDO_0011270 prostate cancer, hereditary, type 8|prostate cancer, hereditary, 8|predisposing for prostate cancer|HPC8 MONDO:0011272 retinitis pigmentosa 25 biolink:Disease mondo ICD10:H35.5|OMIM:602772|DOID:0110384|MESH:C566425|GARD:0010384|UMLS:C1864446 Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene. UMLS:C1864446|http://identifiers.org/omim/602772|MESH:C566425|DOID:0110384 http://purl.obolibrary.org/obo/MONDO_0011272 RP25|retinitis pigmentosa 25|retinitis pigmentosa type 25|EYS retinitis pigmentosa|RP 25|retinitis pigmentosa 25; RP25|retinitis pigmentosa caused by mutation in EYS gard_rare MONDO:0011271 rigid spine muscular dystrophy 1 biolink:Disease mondo ICD10:G71.8|UMLS:C0410180|ICD10:G71.2|SCTID:240063002|OMIM:602771|NCIT:C126691|DOID:0110633 An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage. http://identifiers.org/omim/602771|UMLS:C0410180|DOID:0110633|SNOMEDCT:240063002|NCIT:C126691 http://purl.obolibrary.org/obo/MONDO_0011271 severe classic form minicore myopathy|severe classic form multiminicore disease|RSMD1|desmin-related myopathy with Mallory bodies|congenital merosin-positive muscular dystrophy with early spine rigidity|myopathy, Sepn1-related|classic MmD|MDRS1|Eichsfeld type congenital muscular dystrophy|SEPN1-related myopathy|muscular dystrophy, congenital, merosin-positive, with early spine rigidity|desmin-related myopathy with Mallory body-like inclusions|classic multiminicore myopathy|rigid spine muscular dystrophy 1; RSMD1|rigid spine syndrome|muscular dystrophy, congenital, Eichsfeld type|RSS|rigid spine syndrome caused by mutation in SELENON|classic multiminicore disease|SELENON rigid spine syndrome|multicore myopathy, Severe classic form|early-onset desmin-related myopathy|rigid spine muscular dystrophy 1|rigid spine muscular dystrophy type 1|minicore myopathy, Severe classic form|multiminicore disease, Severe classic form|desmin-related myopathy with Mallory bodies|severe classic form multicore myopathy MONDO:0011274 Muenke syndrome biolink:Disease mondo MESH:C537369|ICD10:Q87.0|DOID:0060703|OMIM:602849|GARD:0007097|SCTID:440350001|Orphanet:53271|NCIT:C84904|UMLS:C1864436 Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. ORPHA:53271|DOID:0060703|UMLS:C1864436|NCIT:C84904|http://identifiers.org/omim/602849|SNOMEDCT:440350001|MESH:C537369 http://purl.obolibrary.org/obo/MONDO_0011274 FGFR3-related craniosynostosis|syndrome of coronal craniosynostosis|MNKES|Muenke syndrome|Muenke nonsyndromic coronal craniosynostosis|Muenke syndrome; MNKES ordo_malformation_syndrome|gard_rare MONDO:0011273 H syndrome biolink:Disease mondo GARD:0000581|MESH:C538322|ICD10:D76.3|MESH:C535391|SCTID:711159002|GARD:0010239|Orphanet:168569|OMIM:602782|UMLS:C1864445|UMLS:C2930890 H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). UMLS:C1864445|ORPHA:168569|UMLS:C2930890|http://identifiers.org/omim/602782|MESH:C538322|SNOMEDCT:711159002|MESH:C535391 http://purl.obolibrary.org/obo/MONDO_0011273 sinus histiocytosis and massive lymphadenopathy|H syndrome|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness|Rosai-Dorfman disease, familial|Asrar Facharzt Haque syndrome|pigmented hypertrichosis with insulin-dependent diabetes mellitus|SLC29A3 spectrum disorder|Faisalabad histiocytosis|HJCD|histiocytosis-lymphadenopathy plus syndrome|histiocytosis with Joint contractures and sensorineural deafness ordo_malformation_syndrome|gard_rare MONDO:0023243 glass-chapman-hockley syndrome biolink:Disease mondo SCTID:720814001|Orphanet:1535|UMLS:C4303810|GARD:0002479 The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. SNOMEDCT:720814001|UMLS:C4303810|ORPHA:1535 http://purl.obolibrary.org/obo/MONDO_0023243 craniosynostosis with facial dysmorphism and brachydactyly syndrome|craniosynostosis-dysmorphism-brachydactyly syndrome|glass chapman hockley syndrome|craniosynostosis - dysmorphism - brachydactyly|craniosynostosis brachydactyly n_of_one|gard_rare MONDO:0023246 linear porokeratosis biolink:Disease mondo SCTID:238631008|UMLS:C0302319 Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults. SNOMEDCT:238631008|UMLS:C0302319 http://purl.obolibrary.org/obo/MONDO_0023246 Porokeratosis, Linear|Congenital facial linear porokeratosis (type)|Zosteriform porokeratosis|Linear Porokeratosis|Linear porokeratosis gard_rare MONDO:0023249 polyarticular juvenile rheumatoid arthritis biolink:Disease mondo UMLS:C0311221|SCTID:445479007|GARD:0010967 SNOMEDCT:445479007|UMLS:C0311221 http://purl.obolibrary.org/obo/MONDO_0023249 Polyarticular juvenile rheumatoid arthritis|Juvenile polyarthritis rheumatoid factor positive|Juvenile polyarthritis rheumatoid factor negative gard_rare MONDO:0023240 gigantism advanced bone age hoarse cry biolink:Disease mondo GARD:0002471 http://purl.obolibrary.org/obo/MONDO_0023240 gard_rare MONDO:0011265 STHAG2 biolink:Disease mondo OMIM:602639|UMLS:C1865092|MESH:C566513 UMLS:C1865092|http://identifiers.org/omim/602639|MESH:C566513 http://purl.obolibrary.org/obo/MONDO_0011265 hypodontia/oligodontia 2|STHAG2|tooth agenesis, selective, 2|tooth agenesis, selective, 2; STHAG2 MONDO:0011264 torsion dystonia 6 biolink:Disease mondo MESH:C538003|SCTID:702448007|DOID:0090039|Orphanet:98806|UMLS:C1414216|OMIM:602629|GARD:0009630|ICD10:G24.1 Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. UMLS:C1414216|SNOMEDCT:702448007|http://identifiers.org/omim/602629|MESH:C538003|ORPHA:98806|DOID:0090039 http://purl.obolibrary.org/obo/MONDO_0011264 torsion dystonia type 6|generalized cervical and upper-limb-onset dystonia|adolescent-onset dystonia of mixed type|THAP1 generalized isolated dystonia|primary dystonia, DYT6 type|dystonia 6|DYT6|DYT-THAP1|torsion dystonia adult onset mixed type|generalized isolated dystonia caused by mutation in THAP1|dystonia 6, torsion; DYT6|idiopathic torsion dystonia of mixed type|dystonia 6, torsion|torsion dystonia, adult-onset, mixed type ordo_disease MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration biolink:Disease mondo OMIM:602685|MESH:C566429|UMLS:C1864549 UMLS:C1864549|http://identifiers.org/omim/602685|MESH:C566429 http://purl.obolibrary.org/obo/MONDO_0011267 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration|intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration|Mrst MONDO:0011266 myotonic dystrophy type 2 biolink:Disease mondo OMIM:602668|ICD10:G71.19|ICD10:G71.1|Orphanet:606|DOID:0050759|ICD9:359.2|NCIT:C84680|GARD:0009728 Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders. DOID:0050759|NCIT:C84680|http://identifiers.org/omim/602668|MESH:D020967|UMLS:C0752354|ORPHA:606 http://purl.obolibrary.org/obo/MONDO_0011266 CNBP myotonic dystrophy|myotonic myopathy, proximal|dystrophia myotonica type 2|myotonic dystrophy 2|myotonic dystrophy caused by mutation in CNBP|PROMM|proximal myotonic dystrophy|proximal myotonic myopathy|myotonic dystrophy type 2|DM2|dystrophia myotonica 2|ricker disease|myotonic dystrophy 2; DM2|ricker syndrome ordo_disease|gard_rare MONDO:0011269 psoriasis 2 biolink:Disease mondo UMLS:C1864497|OMIM:602723 Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene. UMLS:C1864497|http://identifiers.org/omim/602723 http://purl.obolibrary.org/obo/MONDO_0011269 CARD14 psoriasis|PSORS2|psoriasis caused by mutation in CARD14|psoriasis type 2|psoriasis 2|psoriasis 2; PSORS2 MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss biolink:Disease mondo GARD:0004669|OMIM:602722 http://identifiers.org/omim/602722 http://purl.obolibrary.org/obo/MONDO_0011268 RTA, distal, autosomal recessive|classical distal renal tubular acidosis|renal tubular acidosis, autosomal recessive, with preserved hearing|classical distal RTA|renal tubular acidosis, autosomal recessive with preserved hearing|type 1 renal tubular acidosis|RTADR|renal tubular acidosis, distal, autosomal recessive; RTADR|type 1 RTA|renal tubular acidosis, distal, autosomal recessive|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included HP:0000347 Micrognathia biolink:PhenotypicFeature mondo SNOMEDCT_US:32958008|Fyler:4163|UMLS:C1857130|MSH:D008844|UMLS:C0240295|UMLS:C0025990 Developmental hypoplasia of the mandible. http://purl.obolibrary.org/obo/HP_0000347 Retrusion of lower jaw|Mandibular retrusion|Lower jaw hypoplasia|Robin mandible|Hypotrophic mandible|Decreased size of mandible|Micromandible|Small lower jaw|Small jaw|Little lower jaw|Decreased projection of lower jaw|Mandibular deficiency|Mandibular retrognathia|Decreased size of lower jaw|Decreased projection of mandible|Deficiency of lower jaw|Hypotrophic lower jaw|Hypoplastic mandible|Hypoplastic mandible condyle|Hypoplasia of mandible|Mandibular hypoplasia|Hypoplasia of lower jaw|Lower jaw retrusion|Lower jaw deficiency|Underdevelopment of mandible|Severe hypoplasia of mandible|Mandibular micrognathia|Little mandible|Micrognathia of lower jaw|Underdevelopment of lower jaw|Small mandible hposlim_core MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation biolink:Disease mondo SCTID:718766002|OMIM:602611|Orphanet:163649|MESH:C566515|ICD10:Q77.7 A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. SNOMEDCT:718766002|http://identifiers.org/omim/602611|MESH:C566515|ORPHA:163649 http://purl.obolibrary.org/obo/MONDO_0011261 spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome|spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation|spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability ordo_disease|n_of_one MONDO:0011260 pancreatic lymphoma, familial biolink:Disease mondo MESH:C566516|UMLS:C1865139|OMIM:602596 An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome. UMLS:C1865139|http://identifiers.org/omim/602596|MESH:C566516 http://purl.obolibrary.org/obo/MONDO_0011260 hereditary pancreas lymphoma|pancreatic lymphoma, familial predisposition MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal biolink:Disease mondo UMLS:C1865117|MESH:C566514|OMIM:602613 UMLS:C1865117|http://identifiers.org/omim/602613|MESH:C566514 http://purl.obolibrary.org/obo/MONDO_0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye biolink:Disease mondo SCTID:715986009|OMIM:602612|Orphanet:1323|GARD:0000216|UMLS:C1865133|MESH:C535876|ICD10:Q87.0 Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). MESH:C535876|UMLS:C1865133|SNOMEDCT:715986009|http://identifiers.org/omim/602612|ORPHA:1323 http://purl.obolibrary.org/obo/MONDO_0011262 camptodactyly, joint contractures, facial skeletal defects|Rozin hertz Goodman syndrome|camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye gard_rare|ordo_malformation_syndrome HGNC:19087 EBF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/19087 HGNC:19082 NALCN biolink:OntologyClass mondo http://identifiers.org/hgnc/19082 NCBITaxon:27973 Encephalitozoon hellem organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_27973 HP:0012384 Rhinitis biolink:PhenotypicFeature mondo UMLS:C2718128|SNOMEDCT_US:70076002|MSH:D012220|UMLS:C0035455 Inflammation of the nasal mucosa with nasal congestion. http://purl.obolibrary.org/obo/HP_0012384 Nasal inflammation hposlim_core GO:0015696 ammonium transport biolink:OntologyClass mondo The directed movement of ammonium into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals. http://purl.obolibrary.org/obo/GO_0015696 ammonia transport GO:0015698 inorganic anion transport biolink:OntologyClass mondo The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0015698 BFO:0000132 part of occurrent biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000132 GO:0015693 magnesium ion transport biolink:OntologyClass mondo The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015693 magnesium transport GO:0015695 organic cation transport biolink:OntologyClass mondo The directed movement of organic cations into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic cations are atoms or small molecules with a positive charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0015695 HP:0012374 obsolete Abnormal globe morphology biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0012374 GO:0001067 regulatory region nucleic acid binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a nucleic acid region that regulates a nucleic acid-based process. Such processes include transcription, DNA replication, and DNA repair. http://purl.obolibrary.org/obo/GO_0001067 HP:0012372 Abnormal eye morphology biolink:PhenotypicFeature mondo UMLS:C4022925|Fyler:4863 A structural anomaly of the globe of the eye, or bulbus oculi. http://purl.obolibrary.org/obo/HP_0012372 Abnormally shaped eye|Abnormal eye structure|Abnormality of the globe HP:0012373 Abnormal eye physiology biolink:PhenotypicFeature mondo UMLS:C4022924 A functional anomaly of the eye. http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology HGNC:20087 TTC8 biolink:OntologyClass mondo http://identifiers.org/hgnc/20087 ENVO:02000109 dust from plant parts biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_02000109 ENVO:02000108 cotton dust biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_02000108 HP:0012369 Abnormality of malar bones biolink:PhenotypicFeature mondo UMLS:C4022926 An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. http://purl.obolibrary.org/obo/HP_0012369 Anomaly of the malar bones|Malar anomaly|Deformity of the malar bones|Malformation of the malar bones ENVO:02000103 metallic dust biolink:OntologyClass mondo Dust which is composed primarily of some metallic material. http://purl.obolibrary.org/obo/ENVO_02000103 MONDO:0023290 grix Blankenship Peterson syndrome biolink:Disease mondo GARD:0002567 http://purl.obolibrary.org/obo/MONDO_0023290 craniofacial and osseous defects intellectual disability|craniofacial and osseous defects mental retardation gard_rare ENVO:02000101 fibrous dust biolink:OntologyClass mondo Dust which is composed of fibrous material. http://purl.obolibrary.org/obo/ENVO_02000101 ENVO:02000100 mineral dust biolink:OntologyClass mondo Dust which is derived from mineral material. http://purl.obolibrary.org/obo/ENVO_02000100 ENVO:02000106 asbestos dust biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_02000106 ENVO:02000105 clay dust biolink:OntologyClass mondo Dust which is derived from clay material. http://purl.obolibrary.org/obo/ENVO_02000105 GO:0003690 double-stranded DNA binding biolink:OntologyClass mondo Interacting selectively and non-covalently with double-stranded DNA. http://purl.obolibrary.org/obo/GO_0003690 dsDNA binding MONDO:0023297 guttate psoriasis biolink:Disease mondo ICD9:696.1|GARD:0010569|SCTID:37042000|ICD10:L40.4|UMLS:C0343052 Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy. UMLS:C0343052|SNOMEDCT:37042000 http://purl.obolibrary.org/obo/MONDO_0023297 psoriasis guttate|guttate psoriasis|psoriasis guttata gard_rare GO:0015671 oxygen transport biolink:OntologyClass mondo The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015671 GO:0015672 monovalent inorganic cation transport biolink:OntologyClass mondo The directed movement of inorganic cations with a valency of one into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic cations are atoms or small molecules with a positive charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0015672 HP:0000370 Abnormality of the middle ear biolink:PhenotypicFeature mondo UMLS:C1861141 An abnormality of the middle ear. http://purl.obolibrary.org/obo/HP_0000370 Middle ear abnormality|Middle ear abnormalities hposlim_core HGNC:19077 NCR3 biolink:OntologyClass mondo http://identifiers.org/hgnc/19077 MONDO:0023288 green sandford davison syndrome biolink:Disease mondo MESH:C538221|UMLS:C2931777|GARD:0002447 UMLS:C2931777|MESH:C538221 http://purl.obolibrary.org/obo/MONDO_0023288 renal and anogenital malformations with syndactyly|anal anomalies, renal tract abnormalities, genital malformations, and syndactyly gard_rare HGNC:19073 THOC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19073 MONDO:0023282 granulomatous hypophysitis biolink:Disease mondo GARD:0006547 Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma. http://purl.obolibrary.org/obo/MONDO_0023282 idiopathic granulomatous hypophysitis gard_rare MONDO:0023283 ovarian granulosa cell tumor biolink:Disease mondo MESH:C537296|UMLS:C1370419|EFO:1000421|SCTID:254863004|NCIT:C6261 A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis. MESH:C537296|SNOMEDCT:254863004|NCIT:C6261|UMLS:C1370419 http://purl.obolibrary.org/obo/MONDO_0023283 ovarian granulosa cell tumor|granulosa cell tumor of ovary|granulosa theca cell tumor of the ovary|granulosa cell neoplasm of ovary|ovary granulosa cell tumor|granulosa theca cell tumor|GCT of the ovary|ovarian granulosa cell neoplasm|adult granulosa cell tumor of the ovary|granulosa cell neoplasm of the ovary|granulosa cell tumor of the ovary MONDO:0023286 graphite pneumoconiosis biolink:Disease mondo ICD9:503|SCTID:17385007|UMLS:C0264439|GARD:0008359 SNOMEDCT:17385007|UMLS:C0264439 http://purl.obolibrary.org/obo/MONDO_0023286 carbon pneumoconiosis|graphitosis|graphite fibrosis of lung|graphite fibrosis|graphite lung disease|graphite pneumoconiosis gard_rare BFO:0000144 process profile biolink:OntologyClass mondo b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) http://purl.obolibrary.org/obo/BFO_0000144 BFO:0000141 immaterial entity biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000141 MONDO:0001763 ethmoid sinus cancer biolink:Disease mondo SCTID:363426009|UMLS:C0153477|ICD10:C31.1|DOID:1363|ICD9:160.3|NCIT:C3541 A malignant neoplasm involving the ethmoid sinus. DOID:1363|UMLS:C0153477|SNOMEDCT:363426009|NCIT:C3541 http://purl.obolibrary.org/obo/MONDO_0001763 malignant neoplasm of ethmoidal sinus|malignant ethmoid sinus tumor|malignant neoplasm of the ethmoidal sinus|malignant tumor of the ethmoid sinus|malignant tumor of ethmoid sinus|malignant ethmoidal sinus tumor|cancer of ethmoid sinus|malignant tumor of the ethmoidal sinus|malignant ethmoidal sinus neoplasm|ethmoid sinus cancer|malignant neoplasm of ethmoid sinus|malignant tumor of ethmoidal sinus|malignant neoplasm of the ethmoid sinus|malignant ethmoid sinus neoplasm HGNC:19165 TBC1D4 biolink:OntologyClass mondo http://identifiers.org/hgnc/19165 MONDO:0001762 dentine erosion biolink:Disease mondo DOID:13629|ICD9:521.32 A tooth erosion, non-bacterial that involves the dentine. DOID:13629 http://purl.obolibrary.org/obo/MONDO_0001762 tooth erosion, non-bacterial of dentine|dentine tooth erosion, non-bacterial MONDO:0001761 favism biolink:Disease mondo SCTID:191172001|NCIT:C34607|ICD10:D55.0|DOID:13628|MESH:D005236|UMLS:C0015702 A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis. SNOMEDCT:191172001|NCIT:C34607|DOID:13628|MESH:D005236|UMLS:C0015702 http://purl.obolibrary.org/obo/MONDO_0001761 MONDO:0001760 photokeratitis biolink:Disease mondo ICD10:H16.13|ICD9:370.24|UMLS:C0155078|NCIT:C118750|COHD:375258|SCTID:1714005|DOID:13626 Injury to the cornea secondary to ultraviolet light. NCIT:C118750|UMLS:C0155078|DOID:13626|SNOMEDCT:1714005 http://purl.obolibrary.org/obo/MONDO_0001760 ultraviolet keratitis MONDO:0001767 stenosis of lacrimal punctum biolink:Disease mondo COHD:440404|UMLS:C0155244|ICD9:375.52|ICD10:H04.56|DOID:13653|SCTID:74783009 SNOMEDCT:74783009|UMLS:C0155244|DOID:13653 http://purl.obolibrary.org/obo/MONDO_0001767 NCBITaxon:39759 Deltavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39759 MONDO:0001766 eversion of lacrimal punctum biolink:Disease mondo COHD:374952|UMLS:C0155243|ICD9:375.51|SCTID:28244003|ICD10:H04.52|DOID:13651 UMLS:C0155243|DOID:13651|SNOMEDCT:28244003 http://purl.obolibrary.org/obo/MONDO_0001766 MONDO:0001765 polyneuropathy in collagen vascular disease biolink:Disease mondo UMLS:C0154759|SCTID:193177003|DOID:13649|ICD9:357.1|ICD9:357.4|COHD:375260 DOID:13649|SNOMEDCT:193177003|UMLS:C0154759 http://purl.obolibrary.org/obo/MONDO_0001765 MONDO:0001764 ethmoidal sinus neoplasm biolink:Disease mondo SCTID:126677000|DOID:1364|NCIT:C4416|UMLS:C0345668 A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. SNOMEDCT:126677000|UMLS:C0345668|DOID:1364|NCIT:C4416 http://purl.obolibrary.org/obo/MONDO_0001764 ethmoid sinus neoplasm (disease)|tumor of the ethmoidal sinus|ethmoidal sinus neoplasm|tumor of ethmoid sinus|neoplasm of the ethmoid sinus|tumor of ethmoidal sinus|ethmoid sinus neoplasm|neoplasm of the ethmoidal sinus|neoplasm of ethmoidal sinus|ethmoidal sinus tumor|tumor of the ethmoid sinus|neoplasm of ethmoid sinus|ethmoid sinus tumor MONDO:0013749 ventricular septal defect 3 biolink:Disease mondo UMLS:C3280785|OMIM:614432 Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene. UMLS:C3280785|http://identifiers.org/omim/614432 http://purl.obolibrary.org/obo/MONDO_0013749 NKX2-5 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in NKX2-5|ventricular septal defect type 3|VSD3|ventricular septal defect 3; VSD3|ventricular septal defect 3 MONDO:0013747 atrioventricular septal defect 4 biolink:Disease mondo UMLS:C3280781|OMIM:614430 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. http://identifiers.org/omim/614430|UMLS:C3280781 http://purl.obolibrary.org/obo/MONDO_0013747 atrioventricular septal defect caused by mutation in GATA4|AVSD4|atrioventricular septal defect 4|GATA4 atrioventricular septal defect|atrioventricular septal defect type 4|atrioventricular septal defect 4; AVSD4 MONDO:0013748 ventricular septal defect 2 biolink:Disease mondo OMIM:614431 Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene. http://identifiers.org/omim/614431 http://purl.obolibrary.org/obo/MONDO_0013748 ventricular septal defect type 2|ventricular septal defect 2; VSD2|VSD2|ventricular septal defect 2|CITED2 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in CITED2 HP:0000518 Cataract biolink:PhenotypicFeature mondo SNOMEDCT_US:128306009|SNOMEDCT_US:193570009|UMLS:C0086543|MSH:D002386|SNOMEDCT_US:247053007|Fyler:4865|UMLS:C1510497 A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. http://purl.obolibrary.org/obo/HP_0000518 Cloudy lens|Clouding of the lens of the eye|Lens opacity|Cataracts|Lens opacities hposlim_core HP:0000517 Abnormality of the lens biolink:PhenotypicFeature mondo UMLS:C0023308|UMLS:C0549651|SNOMEDCT_US:10810001|MSH:D007905 An abnormality of the lens. http://purl.obolibrary.org/obo/HP_0000517 Abnormality of the lens|Lens issue|Lens disease HGNC:20151 SLC17A8 biolink:OntologyClass mondo http://identifiers.org/hgnc/20151 HGNC:20153 CHD8 biolink:OntologyClass mondo http://identifiers.org/hgnc/20153 MONDO:0013752 hypoplastic left heart syndrome 2 biolink:Disease mondo OMIM:614435|MedDRA:10021076|UMLS:C3280795|ICD10:Q23.4 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene. UMLS:C3280795|http://identifiers.org/omim/614435 http://purl.obolibrary.org/obo/MONDO_0013752 hypoplastic left heart syndrome caused by mutation in NKX2-5|hypoplastic left heart syndrome 2; HLHS2|NKX2-5 hypoplastic left heart syndrome|hypoplastic left heart syndrome 2|HLHS2|hypoplastic left heart syndrome type 2 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P biolink:Disease mondo OMIM:614436|GARD:0009195|UMLS:C1837805|ICD10:G60.0|SCTID:719511005|GARD:0012435|DOID:0110169|OMIM:608591|UMLS:C3280797|Orphanet:300319|UMLS:C4304674|Orphanet:99941 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene. http://identifiers.org/omim/608591|ORPHA:99941|UMLS:C4304674|DOID:0110169|ORPHA:300319|UMLS:C1837805|UMLS:C3280797|http://identifiers.org/omim/614436|SNOMEDCT:719511005 http://purl.obolibrary.org/obo/MONDO_0013753 Charcot Marie Tooth disease type 2G|CMT 2G|autosomal dominant Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Toothe disease, axonal, type 2P|Charcot-Marie-Tooth neuropathy, type 2G|Charcot-Marie-Tooth neuropathy, type 2P|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth disease type 2P|Charcot-Marie-Tooth disease, axonal, type 2P|Charcot-Marie-Tooth disease caused by mutation in LRSAM1|Charcot-Marie-Tooth disease, axonal, type 2P; CMT2P|LRSAM1 Charcot-Marie-Tooth disease|CMT2P|Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth neuropathy type 2P|Charcot-Marie-Tooth disease, axonal, type 2G, formerly|CMT2G|Charcot-Marie-Tooth disease, axonal, type 2G|Charcot-Marie-Tooth disease, axonal, type 2G; CMT2G ordo_disease|gard_rare MONDO:0013750 atrial heart septal defect 8 biolink:Disease mondo OMIM:614433|DOID:0110113|ICD10:Q21.1 Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene. DOID:0110113|http://identifiers.org/omim/614433 http://purl.obolibrary.org/obo/MONDO_0013750 atrial septal defect 8; ASD8|CITED2 atrial heart septal defect|atrial heart septal defect caused by mutation in CITED2|atrial septal defect type 8|atrial heart septal defect type 8|ASD8|atrial septal defect 8 MONDO:0013751 cutis laxa, autosomal dominant 2 biolink:Disease mondo OMIM:614434|UMLS:C3280794 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene. UMLS:C3280794|http://identifiers.org/omim/614434 http://purl.obolibrary.org/obo/MONDO_0013751 FBLN5 autosomal dominant cutis laxa|cutis laxa, autosomal dominant 2; ADCL2|autosomal dominant cutis laxa caused by mutation in FBLN5|autosomal dominant cutis laxa 2|ADCL2|cutis laxa, autosomal dominant type 2|cutis laxa, autosomal dominant 2 MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 biolink:Disease mondo UMLS:C3280800|OMIM:614441 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene. UMLS:C3280800|http://identifiers.org/omim/614441 http://purl.obolibrary.org/obo/MONDO_0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, type 2|PDP, autosomal recessive|PHOAR2|SLCO2A1 primary hypertrophic osteoarthropathy|hypertrophic osteoarthropathy, primary, autosomal recessive, 2|hypertrophic osteoarthropathy, primary, autosomal recessive, 2; PHOAR2|primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1|pachydermoperiostosis, autosomal recessive MONDO:0013757 congenital nongoitrous hypothryoidism 6 biolink:Disease mondo DOID:0070128|ICD10:E03.1|OMIM:614450|UMLS:C3280817 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene. UMLS:C3280817|DOID:0070128|http://identifiers.org/omim/614450 http://purl.obolibrary.org/obo/MONDO_0013757 hypothyroidism, congenital, nongoitrous, type 6|hypothyroidism, congenital, nongoitrous caused by mutation in THRA|hypothyroidism, congenital, nongoitrous, 6|congenital nongoitrous hypothyroidism 6|CHNG6|hypothyroidism, congenital, nongoitrous, 6; CHNG6|THRA hypothyroidism, congenital, nongoitrous MONDO:0013754 cutis laxa, autosomal recessive, type 1B biolink:Disease mondo ICD10:Q82.8|DOID:0070133|UMLS:C3280798|OMIM:614437 An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. UMLS:C3280798|DOID:0070133|http://identifiers.org/omim/614437 http://purl.obolibrary.org/obo/MONDO_0013754 ARCL1B|cutis laxa, autosomal recessive, type IB|autosomal recessive cutis laxa type IB|cutis laxa, autosomal recessive, type IB; ARCL1B MONDO:0013755 PYCR1-related de Barsy syndrome biolink:Disease mondo ICD10:Q87.8|DOID:0070138|Orphanet:293633|OMIM:614438|ICD10:Q82.8|UMLS:C3280799 Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene. ORPHA:293633|UMLS:C3280799|DOID:0070138|http://identifiers.org/omim/614438 http://purl.obolibrary.org/obo/MONDO_0013755 cutis laxa, autosomal recessive, type IIIB; ARCL3B|pyrroline-5-carboxylate reductase 1 deficiency|cutis laxa, autosomal recessive, type IIIB|PYCR1 de Barsy syndrome|cutis laxa, autosomal recessive, type 3B|de Barsy syndrome caused by mutation in PYCR1|ARCL3B|autosomal recessive cutis laxa type IIIB|De Barsy syndrome B|PYCR1 deficiency ordo_etiological_subtype HP:0012503 Abnormality of the pituitary gland biolink:PhenotypicFeature mondo SNOMEDCT_US:399244003|UMLS:C0032002|MSH:D010900 An anomaly of the pituitary gland. http://purl.obolibrary.org/obo/HP_0012503 disorder of pituitary gland MONDO:0001759 obsolete patent foramen ovale biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001759 MONDO:0001758 paranasal sinus sarcoma biolink:Disease mondo UMLS:C1335342|NCIT:C6849|DOID:1362 A malignant soft tissue neoplasm that arises from the paranasal sinus. UMLS:C1335342|NCIT:C6849|DOID:1362 http://purl.obolibrary.org/obo/MONDO_0001758 sarcoma of accessory sinus|sarcoma of the paranasal sinus|accessory sinus sarcoma|sarcoma of the accessory sinus|paranasal sinus sarcoma|sarcoma of paranasal sinus HGNC:5261 HSPD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5261 MONDO:0001757 frontal sinus neoplasm biolink:Disease mondo UMLS:C0345672|SCTID:126678005|NCIT:C4419|DOID:1361 A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. NCIT:C4419|SNOMEDCT:126678005|UMLS:C0345672|DOID:1361 http://purl.obolibrary.org/obo/MONDO_0001757 frontal sinus neoplasm (disease)|neoplasm of frontal sinus|frontal sinus tumor|tumor of the frontal sinus|tumor of frontal sinus|neoplasm of the frontal sinus MONDO:0001774 posterior scleritis biolink:Disease mondo COHD:440732|ICD9:379.07|ICD10:H15.03|DOID:13676|SCTID:267660007|UMLS:C0155357 SNOMEDCT:267660007|DOID:13676|UMLS:C0155357 http://purl.obolibrary.org/obo/MONDO_0001774 NCBITaxon:39744 Rubulavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39744 MONDO:0001773 post-vaccinal encephalitis biolink:Disease mondo SCTID:31367003|UMLS:C0751101|ICD9:323.51|ICD10:G04.02|DOID:13664 An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921) SNOMEDCT:31367003|UMLS:C0751101|DOID:13664 http://purl.obolibrary.org/obo/MONDO_0001773 encephalitis following immunization procedures|postvaccinal encephalomyelitis MONDO:0001772 ulcer of anus and rectum biolink:Disease mondo DOID:13662|ICD9:569.41|ICD10:K62.6 DOID:13662 http://purl.obolibrary.org/obo/MONDO_0001772 anal and rectal ulcer MONDO:0001771 infective urethral stricture biolink:Disease mondo ICD9:136.9|SCTID:80375002|DOID:13658|ICD9:598.01|ICD9:598.00 DOID:13658|SNOMEDCT:80375002 http://purl.obolibrary.org/obo/MONDO_0001771 MONDO:0001778 dermoid cyst of skin biolink:Disease mondo DOID:13691|SCTID:276729007|NCIT:C4632|UMLS:C0349502 A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure. DOID:13691|UMLS:C0349502|SNOMEDCT:276729007|NCIT:C4632 http://purl.obolibrary.org/obo/MONDO_0001778 skin dermoid cyst|skin dermoid|dermoid cyst of skin (finding)|zone of skin dermoid cyst|cystic skin teratoma|subcutaneous dermoid cyst|cutaneous dermoid cyst|dermoid cyst of skin|dermoid cyst of the skin MONDO:0001777 acute gonococcal cystitis biolink:Disease mondo UMLS:C0153191|DOID:13690|SCTID:24868007|ICD9:098.11 Acute form of gonococcal cystitis. SNOMEDCT:24868007|DOID:13690|UMLS:C0153191 http://purl.obolibrary.org/obo/MONDO_0001777 gonococcal cystitis|gonococcal cystitis (acute)|gonococcal cystitis, acute|acute gonorrhea of bladder MONDO:0001776 prostate calculus biolink:Disease mondo SCTID:85324003|COHD:193818|DOID:13689|ICD10:N42.0|UMLS:C0149525|ICD9:602.0 A concretion in the prostate. SNOMEDCT:85324003|DOID:13689|NCIT:C26936|UMLS:C0149525 http://purl.obolibrary.org/obo/MONDO_0001776 prostatic lithiasis|Stone of prostate|lower urinary tract calculus of prostate gland|calculus of prostate|prostatic stone|prostate gland lower urinary tract calculus MONDO:0001775 chronic duodenal ileus biolink:Disease mondo ICD10:K31.5|COHD:441897|UMLS:C0156087|ICD9:537.2|DOID:13687|SCTID:52232007 SNOMEDCT:52232007|UMLS:C0156087|DOID:13687 http://purl.obolibrary.org/obo/MONDO_0001775 HP:0000525 Abnormality iris morphology biolink:PhenotypicFeature mondo UMLS:C4025845 An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. http://purl.obolibrary.org/obo/HP_0000525 Abnormality of the iris hposlim_core MONDO:0013738 autosomal recessive nonsyndromic deafness 96 biolink:Disease mondo OMIM:614414|DOID:0110538|ICD10:H90.3 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13. http://identifiers.org/omim/614414|DOID:0110538 http://purl.obolibrary.org/obo/MONDO_0013738 autosomal recessive nonsyndromic deafness type 96|deafness, autosomal recessive 96|deafness, autosomal recessive 96; DFNB96|autosomal recessive deafness 96|DFNB96 MONDO:0013739 chilblain lupus 2 biolink:Disease mondo UMLS:C3280721|OMIM:614415 Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene. UMLS:C3280721|http://identifiers.org/omim/614415 http://purl.obolibrary.org/obo/MONDO_0013739 chilblain lupus 2; CHBL2|chilblain lupus caused by mutation in SAMHD1|Chilblain lupus type 2|chilblain lupus 2|CHBL2|SAMHD1 chilblain lupus MONDO:0013736 myopathy, centronuclear, 3 biolink:Disease mondo UMLS:C3280703|OMIM:614408 Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene. UMLS:C3280703|http://identifiers.org/omim/614408 http://purl.obolibrary.org/obo/MONDO_0013736 myopathy, centronuclear, type 3|autosomal dominant centronuclear myopathy caused by mutation in MYF6|MYF6 autosomal dominant centronuclear myopathy|myopathy, centronuclear, 3|CNM3|myopathy, centronuclear, 3; CNM3 MONDO:0013737 hereditary spastic paraplegia 46 biolink:Disease mondo ICD10:G11.4|SCTID:723822009|Orphanet:320391|DOID:0110798|UMLS:C2828721|UMLS:C4510081|OMIM:614409 A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. UMLS:C4510081|http://identifiers.org/omim/614409|ORPHA:320391|SNOMEDCT:723822009|UMLS:C2828721|DOID:0110798 http://purl.obolibrary.org/obo/MONDO_0013737 SPG46|hereditary spastic paraplegia type 46|spastic paraplegia 46, autosomal recessive; SPG46|GBA2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia type 46|autosomal recessive complex spastic paraplegia caused by mutation in GBA2|spastic paraplegia 46, autosomal recessive|autosomal recessive spastic paraplegia 46 ordo_disease HP:0000526 Aniridia biolink:PhenotypicFeature mondo MSH:D015783|SNOMEDCT_US:69278003|UMLS:C0003076 Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. http://purl.obolibrary.org/obo/HP_0000526 Absent iris hposlim_core MONDO:0001770 gastrin secretion abnormality biolink:Disease mondo ICD9:251.5|SCTID:47344007|DOID:13656|UMLS:C0000774|COHD:194001 UMLS:C0000774|DOID:13656|SNOMEDCT:47344007 http://purl.obolibrary.org/obo/MONDO_0001770 HP:0000528 Anophthalmia biolink:PhenotypicFeature mondo UMLS:C0003119|SNOMEDCT_US:7183006|Fyler:4864|SNOMEDCT_US:204099004|MSH:D000853 Absence of the globe or eyeball. http://purl.obolibrary.org/obo/HP_0000528 Missing globe of eye|Missing eyeball|Absence of eyeballs|Absence of globes of eyes|No eyeball|No globe of eye|Failure of development of eyeball|Ocular absence|Clinical anophthalmia, unilateral/bilateral|Anophthalmia, clinical hposlim_core MONDO:0013741 familial temporal lobe epilepsy 5 biolink:Disease mondo UMLS:C3280730|DOID:0060752|OMIM:614417 A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13. DOID:0060752|UMLS:C3280730|http://identifiers.org/omim/614417 http://purl.obolibrary.org/obo/MONDO_0013741 ETL5|epilepsy, familial temporal lobe, 5; ETL5|familial temporal lobe epilepsy type 5|epilepsy, familial temporal lobe, 5|epilepsy, familial temporal lobe, type 5 MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures biolink:Disease mondo Orphanet:165805 ORPHA:165805 http://purl.obolibrary.org/obo/MONDO_0013742 febrile seizures, familial, type 11|febrile seizures, familial, 11|FEB11 ordo_disease MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome biolink:Disease mondo UMLS:C3280729|ICD10:Q87.5|OMIM:614416|Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. UMLS:C3280729|ORPHA:293925|http://identifiers.org/omim/614416 http://purl.obolibrary.org/obo/MONDO_0013740 RHFCA|radiohumeral fusions with other skeletal and craniofacial anomalies|radiohumeral fusions with other skeletal and craniofacial anomalies; RHFCA ordo_malformation_syndrome MONDO:0013745 Joubert syndrome 14 biolink:Disease mondo OMIM:614424|DOID:0110983|UMLS:C3280766 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene. http://identifiers.org/omim/614424|DOID:0110983|UMLS:C3280766 http://purl.obolibrary.org/obo/MONDO_0013745 Joubert syndrome type 14|TMEM237 Joubert syndrome|Joubert syndrome 14; JBTS14|Joubert syndrome 14|JBTS14|Joubert syndrome caused by mutation in TMEM237 HP:0000520 Proptosis biolink:PhenotypicFeature mondo UMLS:C1862425|UMLS:C1848490|UMLS:C0015300|SNOMEDCT_US:18265008|MSH:D005094|UMLS:C1837760 An eye that is protruding anterior to the plane of the face to a greater extent than is typical. http://purl.obolibrary.org/obo/HP_0000520 Protrusio bulbi|Anterior bulging of the globe of eye|Eyeballs bulging out|Exophthalmos|Bulging eye|Ocular proptosis|Anterior bulging of the globe|Prominent globes|Prominent eyes|Protruding eyes hposlim_core MONDO:0037735 sebaceous gland cancer biolink:Disease mondo UMLS:C1382026|NCIT:C8409 A cancer that involves the sebaceous gland. NCIT:C8409|UMLS:C1382026 http://purl.obolibrary.org/obo/MONDO_0037735 malignant sebaceous neoplasm|malignant sebaceous gland neoplasm|malignant neoplasm of sebaceous gland|malignant neoplasm of the sebaceous gland|malignant sebaceous gland tumor|malignant sebaceous tumor|cancer of sebaceous gland|malignant tumor of the sebaceous gland|malignant tumor of sebaceous gland MONDO:0013746 ventricular septal defect 1 biolink:Disease mondo OMIM:614429|UMLS:C3280777 Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. http://identifiers.org/omim/614429|UMLS:C3280777 http://purl.obolibrary.org/obo/MONDO_0013746 VSD1|ventricular septal defect 1|ventricular septal defect 1; VSD1|GATA4 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in GATA4|ventricular septal defect type 1 MONDO:0013743 autosomal systemic lupus erythematosus type 16 biolink:Disease mondo OMIM:614420|Orphanet:300345|UMLS:C3280742|ICD10:M32.8 An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. ORPHA:300345|UMLS:C3280742|http://identifiers.org/omim/614420 http://purl.obolibrary.org/obo/MONDO_0013743 SLEB16|familial systemic lupus erythematosus|familial SLE|autosomal SLE|systemic lupus erythematosus type 16|systemic lupus erythematosus 16; SLEB16|systemic lupus erythematosus 16 ordo_disease MONDO:0037736 infratentorial neoplasm biolink:Disease mondo NCIT:C3139 A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli. NCIT:C3139 http://purl.obolibrary.org/obo/MONDO_0037736 infratentorial neoplasm|infratentorial tumors|neoplasms, infratentorial|infratentorial tumor|infratentorial neoplasms|brain neoplasms, infratentorial MONDO:0013744 cataract 37 biolink:Disease mondo DOID:0110252|UMLS:C3280758|ICD10:Q12.0|OMIM:614422 A cataract that has material basis in variation in the region 12q24.2-q24.3. http://identifiers.org/omim/614422|DOID:0110252|UMLS:C3280758 http://purl.obolibrary.org/obo/MONDO_0013744 cataract, congenital, cerulean type, 5|cataract 37|cataract 37; CTRCT37|CTRCT37|cataract type 37|CCA5|congenital cataract cerulean type 5 MONDO:0037737 peritoneal solitary fibrous tumor biolink:Disease mondo NCIT:C126357|UMLS:C4288403 A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels. NCIT:C126357|UMLS:C4288403 http://purl.obolibrary.org/obo/MONDO_0037737 peritoneal solitary fibrous tumor HP:0000522 Alacrima biolink:PhenotypicFeature mondo SNOMEDCT_US:253215004|MSH:C562827|UMLS:C0344505 Absence of tear secretion. http://purl.obolibrary.org/obo/HP_0000522 Absent lacrimal fluids|Absent tear secretion|Absence of tears in the eyes hposlim_core MONDO:0001769 acquired tear duct stenosis biolink:Disease mondo ICD10:H04.55|COHD:374357|ICD9:375.56|DOID:13655|SCTID:193995004 DOID:13655|SNOMEDCT:193995004 http://purl.obolibrary.org/obo/MONDO_0001769 stenosis of nasolacrimal duct, acquired|acquired stenosis of nasolacrimal duct|acquired nasolacrimal duct stenosis|tear duct - acquired stenosis MONDO:0001768 stenosis of lacrimal passage biolink:Disease mondo ICD10:H04.54|COHD:441025|ICD9:375.53|SCTID:81345003|ICD10:H04.549|DOID:13654 SNOMEDCT:81345003|DOID:13654 http://purl.obolibrary.org/obo/MONDO_0001768 stenosis of lacrimal canaliculi HGNC:5273 HSPG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5273 MONDO:0001741 hyperparathyroidism biolink:Disease mondo ICD9:252.00|SCTID:66999008|EFO:0008506|OMIMPS:145000|ICD9:252.0|NCIT:C48259|MESH:D006961|ICD10:E21.3|UMLS:C0020502|COHD:133729|DOID:13543 Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. UMLS:C0020502|NCIT:C48259|SNOMEDCT:66999008|DOID:13543|MESH:D006961 http://purl.obolibrary.org/obo/MONDO_0001741 hyperparathyroidism NCBITaxon:39733 Astroviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39733 MONDO:0001740 cornea squamous cell carcinoma biolink:Disease mondo NCIT:C4552|SCTID:255008003|DOID:13538|UMLS:C0346366 A rare squamous cell carcinoma that arises from the cornea. UMLS:C0346366|DOID:13538|SNOMEDCT:255008003|NCIT:C4552 http://purl.obolibrary.org/obo/MONDO_0001740 cornea epidermoid carcinoma|epidermoid carcinoma of the cornea|corneal epidermoid carcinoma|squamous cell carcinoma of the cornea|cornea squamous cell carcinoma|squamous cell carcinoma of cornea|corneal squamous cell carcinoma|epidermoid carcinoma of cornea HGNC:20134 GLRX5 biolink:OntologyClass mondo http://identifiers.org/hgnc/20134 HGNC:19141 TTBK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19141 MONDO:0001745 subserous uterine fibroid biolink:Disease mondo SCTID:95280005|ICD10:D25.2|DOID:13560|UMLS:C0153995|ICD9:218.2|COHD:195770 UMLS:C0153995|SNOMEDCT:95280005|DOID:13560 http://purl.obolibrary.org/obo/MONDO_0001745 subserous leiomyoma of uterus MONDO:0001744 angle-closure glaucoma biolink:Disease mondo DOID:13550|SCTID:392291006|UMLS:C0017605|MESH:D015812 The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity. UMLS:C0017605|MESH:D015812|DOID:13550|SNOMEDCT:392291006 http://purl.obolibrary.org/obo/MONDO_0001744 primary open-angle glaucoma with narrow angles|closed angle glaucoma|angle closure glaucoma|ACG - angle-closure glaucoma|Narrow cleft glaucoma MONDO:0001743 paranasal sinus lymphoma biolink:Disease mondo UMLS:C1335339|NCIT:C6068|DOID:1355 A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type. UMLS:C1335339|NCIT:C6068|DOID:1355 http://purl.obolibrary.org/obo/MONDO_0001743 primary paranasal sinus lymphoma|lymphoma of the accessory sinus|lymphoma of accessory sinus|accessory sinus lymphoma|paranasal sinus lymphoma|lymphoma of the paranasal sinus|lymphoma of paranasal sinus MONDO:0001742 interval angle-closure glaucoma biolink:Disease mondo UMLS:C0154945|DOID:13549|SCTID:65460003|ICD10:H40.23|COHD:437269|ICD9:365.21 UMLS:C0154945|DOID:13549|SNOMEDCT:65460003 http://purl.obolibrary.org/obo/MONDO_0001742 prodromal angle closure glaucoma|angle-closure glaucoma, subacute|intermittent angle-closure glaucoma MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 biolink:Disease mondo EFO:0008899|OMIM:614389 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene. http://identifiers.org/omim/614389 http://purl.obolibrary.org/obo/MONDO_0013727 abortion, spontaneous, recurrent|Rpl|fetal loss, recurrent, susceptibility to|pregnancy loss, recurrent, susceptibility to, 1|F5 pregnancy loss, recurrent, susceptibility|stillbirth, recurrent|pregnancy loss, recurrent, susceptibility to, 1; RPRGL1|Rprgl|embryonic loss, recurrent|miscarriage, recurrent|pregnancy loss, recurrent, susceptibility to, type 1|RPRGL1|pregnancy loss, recurrent, susceptibility caused by mutation in F5 predisposition MONDO:0037738 cauda equina cancer biolink:Disease mondo UMLS:C0349017|SCTID:363477002 A cancer that involves the cauda equina. SNOMEDCT:363477002|UMLS:C0349017 http://purl.obolibrary.org/obo/MONDO_0037738 cancer of cauda equina|malignant cauda equina neoplasm|malignant neoplasm of cauda equina MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 biolink:Disease mondo OMIM:614390 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene. http://identifiers.org/omim/614390 http://purl.obolibrary.org/obo/MONDO_0013728 pregnancy loss, recurrent, susceptibility caused by mutation in F2|RPRGL2|F2 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility to, 2|pregnancy loss, recurrent, susceptibility to, 2; RPRGL2|pregnancy loss, recurrent, susceptibility to, type 2 predisposition MONDO:0037739 benign neoplasm of cauda equina biolink:Disease mondo SCTID:92047003|UMLS:C0686404 A benign neoplasm that involves the cauda equina. SNOMEDCT:92047003|UMLS:C0686404 http://purl.obolibrary.org/obo/MONDO_0037739 benign neoplasm of cauda equina MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 biolink:Disease mondo OMIM:614385|MESH:C565777|UMLS:C1858380|DOID:0070276 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene. DOID:0070276|http://identifiers.org/omim/614385|UMLS:C1858380|MESH:C565777 http://purl.obolibrary.org/obo/MONDO_0013725 colorectal cancer, hereditary nonpolyposis, type 7|MLH3 hereditary nonpolyposis colon cancer|HNPCC7|hereditary nonpolyposis colon cancer caused by mutation in MLH3|colorectal cancer, hereditary nonpolyposis, type 7; HNPCC7 MONDO:0013726 lethal encephalopathy due to mitochondrial and peroxisomal fission defect biolink:Disease mondo ICD10:G31.8|Orphanet:330050|UMLS:C3280660|OMIM:614388 UMLS:C3280660|http://identifiers.org/omim/614388|ORPHA:330050 http://purl.obolibrary.org/obo/MONDO_0013726 EMPF1|encephalopathy due to defective mitochondrial and peroxisomal fission 1|encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission|EMPF|encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission; EMPF|encephalopathy due to defective mitochondrial and peroxisomal fission 1; EMPF1 ordo_disease MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 biolink:Disease mondo OMIM:614391 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene. http://identifiers.org/omim/614391 http://purl.obolibrary.org/obo/MONDO_0013729 pregnancy loss, recurrent, susceptibility to, type 3|RPRGL3|ANXA5 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5|pregnancy loss, recurrent, susceptibility to, 3|pregnancy loss, recurrent, susceptibility to, 3; RPRGL3 predisposition MONDO:0013730 graft versus host disease biolink:Disease mondo UMLS:C0018133|ICD10:T86.0|ICD9:279.50|COHD:443216|SCTID:234646005|NCIT:C3063|Orphanet:39812|OMIM:614395|MedDRA:10018651|MESH:D006086 Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen. SNOMEDCT:234646005|MEDDRA:10018651|MESH:D006086|ORPHA:39812|UMLS:C0018133|NCIT:C3063|http://identifiers.org/omim/614395 http://purl.obolibrary.org/obo/MONDO_0013730 graft-VS-host diseases|graft-versus-host disease, resistance to|GVH|homologous wasting disease|diseases, graft-VS-host|graft-versus-host disease|diseases, graft-versus-host|graft-versus-host disease, susceptibility to; GVHDS|graft VS. host disease|disease, graft-VS-host|graft versus host disease|graft-versus-host-disease|runt disease|graft-versus-host disease, susceptibility to|disease, graft-versus-host|graft VS host disease|graft-VS-host disease|GVHD|GVHDS|graft-versus-host diseases|disease, runt|disease, homologous wasting ordo_disease MONDO:0013731 MEGF10-Related Myopathy biolink:Disease mondo Orphanet:439212|OMIM:614399|ICD10:G71.2|GARD:0012199|UMLS:C3280679 http://identifiers.org/omim/614399|UMLS:C3280679|ORPHA:439212 http://purl.obolibrary.org/obo/MONDO_0013731 myopathy, areflexia, respiratory distress, and dysphagia, early-onset|early-onset myopathy, areflexia, respiratory distress and dysphagia|A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.|MEGF10 Myopathy|EMARDD|early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome|myopathy, areflexia, respiratory distress, and dysphagia, early-onset; EMARDD|myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant ordo_disease MONDO:0037742 endometrioid stromal and related neoplasms biolink:Disease mondo UMLS:C4287868|NCIT:C8384 A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites. NCIT:C8384|UMLS:C4287868 http://purl.obolibrary.org/obo/MONDO_0037742 endometrioid stromal and related tumors|endometrioid stromal and related neoplasms MONDO:0037743 mediastinal soft tissue cancer biolink:Disease mondo UMLS:C1334599|NCIT:C6642 A malignant neoplasm that arises from the soft tissues of the mediastinum. NCIT:C6642|UMLS:C1334599 http://purl.obolibrary.org/obo/MONDO_0037743 malignant soft tissue tumor of the mediastinum|malignant mediastinal mesenchymal tumor|malignant soft tissue tumor of mediastinum|mediastinal mesenchymal tumor, malignant|malignant mediastinal soft tissue tumor|malignant soft tissue neoplasm of the mediastinum|malignant soft tissue neoplasm of mediastinum|malignant mediastinal soft tissue neoplasm MONDO:0037744 neoplasm of retromolar area biolink:Disease mondo SCTID:126804008|UMLS:C0345590 SNOMEDCT:126804008|UMLS:C0345590 http://purl.obolibrary.org/obo/MONDO_0037744 neoplasm of retromolar area|tumor of retromolar area MONDO:0013734 microphthalmia, syndromic 11 biolink:Disease mondo OMIM:614402|UMLS:C3553077 Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene. http://identifiers.org/omim/614402|UMLS:C3553077 http://purl.obolibrary.org/obo/MONDO_0013734 microphthalmia, syndromic type 11|microphthalmia, syndromic 11|VAX1 syndromic microphthalmia|MCOPS11|syndromic microphthalmia caused by mutation in VAX1|microphthalmia, syndromic 11; MCOPS11 MONDO:0037745 fibromyxoid tumor biolink:Disease mondo ICDO:8811/0|NCIT:C66760 A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present. NCIT:C66760 http://purl.obolibrary.org/obo/MONDO_0037745 fibromyxoma|fibromyxoid neoplasm|fibromyxoma, benign|fibromyxoid tumor MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm biolink:Disease mondo UMLS:C1512974|NCIT:C40276 A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma. UMLS:C1512974|NCIT:C40276 http://purl.obolibrary.org/obo/MONDO_0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm|malignant vaginal mixed epithelial and mesenchymal tumor MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome biolink:Disease mondo UMLS:C3280692|Orphanet:329332|OMIM:614407 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. http://identifiers.org/omim/614407|ORPHA:329332|UMLS:C3280692 http://purl.obolibrary.org/obo/MONDO_0013735 microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome|Zaki-Gleeson syndrome|MCHCCD|microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome|microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome; MCHCCD ordo_malformation_syndrome MONDO:0037747 spinal injury biolink:Disease mondo MESH:D013124|SCTID:262521009 A injury that involves the vertebral column. MESH:D013124|SNOMEDCT:262521009 http://purl.obolibrary.org/obo/MONDO_0037747 injury of vertebral column|vertebral column injury MONDO:0013732 glucocorticoid therapy, response to biolink:Disease mondo OMIM:614400 http://identifiers.org/omim/614400 http://purl.obolibrary.org/obo/MONDO_0013732 glucocorticoid therapy, response to; GCTR|glucocorticoid therapy, response to|GCTR MONDO:0037748 hyperlipoproteinemia biolink:Disease mondo UMLS:C0020476|NCIT:C34709|HP:0010980 An elevated concentration of lipoproteins. NCIT:C34709|UMLS:C0020476 http://purl.obolibrary.org/obo/MONDO_0037748 hyperlipoproteinemia MONDO:0013733 accelerated tumor formation, susceptibility to biolink:Disease mondo OMIM:614401 http://identifiers.org/omim/614401 http://purl.obolibrary.org/obo/MONDO_0013733 ACTFS|accelerated tumor formation, susceptibility to; ACTFS|accelerated tumor formation, susceptibility to predisposition MONDO:0001738 obsolete osteopetrosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001738 MONDO:0001737 tetanus neonatorum biolink:Disease mondo DOID:13521|ICD10:A33|NCIT:C116814|ICD9:771.3|UMLS:C0343312|SCTID:43424001 A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. SNOMEDCT:43424001|UMLS:C0343312|NCIT:C116814|DOID:13521 http://purl.obolibrary.org/obo/MONDO_0001737 neonatal tetanus MONDO:0001736 neonatal infective mastitis biolink:Disease mondo COHD:76221|UMLS:C0158948|DOID:13520|ICD9:771.5|SCTID:3468005|ICD10:P39.0 SNOMEDCT:3468005|UMLS:C0158948|DOID:13520 http://purl.obolibrary.org/obo/MONDO_0001736 MONDO:0001735 paranasal sinus disease biolink:Disease mondo ICD9:478.1|NCIT:C26843|MESH:D010254|UMLS:C0030469|SCTID:7393007|DOID:1352 A disease involving the paranasal sinus. DOID:1352|NCIT:C26843|UMLS:C0030469|SNOMEDCT:7393007|MESH:D010254 http://purl.obolibrary.org/obo/MONDO_0001735 disease of paranasal sinus|paranasal sinus disease or disorder|disorder of nasal sinus|paranasal sinus disorder|disorder of paranasal sinus|sinus disorder|disorder of paranasal sinus|disease or disorder of paranasal sinus|paranasal sinus disease HGNC:5285 HTOR biolink:OntologyClass mondo http://identifiers.org/hgnc/5285 HGNC:5286 HTR1A biolink:OntologyClass mondo http://identifiers.org/hgnc/5286 MONDO:0037740 malignant central nervous system mesenchymal, non-meningothelial neoplasm biolink:Disease mondo NCIT:C6758|UMLS:C1334571 A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system. NCIT:C6758|UMLS:C1334571 http://purl.obolibrary.org/obo/MONDO_0037740 malignant central nervous system mesenchymal, non-meningothelial tumor|malignant soft tissue tumor of central nervous system|malignant soft tissue tumor of the central nervous system|malignant soft tissue tumor of the CNS|soft tissue cancer of central nervous system|malignant soft tissue tumor of CNS|malignant CNS soft tissue neoplasm|soft tissue cancer of the central nervous system|malignant central nervous system soft tissue tumor|malignant soft tissue neoplasm of the CNS|malignant central nervous system soft tissue neoplasm|malignant soft tissue neoplasm of CNS|malignant CNS soft tissue tumor|malignant central nervous system mesenchymal non-meningothelial tumor|malignant soft tissue neoplasm of central nervous system|central nervous system mesenchymal non-meningothelial tumor, malignant|malignant soft tissue neoplasm of the central nervous system|malignant central nervous system mesenchymal, non-meningothelial neoplasm MONDO:0001739 purulent labyrinthitis biolink:Disease mondo UMLS:C0155506|DOID:13534|SCTID:24817009|ICD9:386.33 A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. UMLS:C0155506|SNOMEDCT:24817009|DOID:13534 http://purl.obolibrary.org/obo/MONDO_0001739 acute suppurative labyrinthitis|suppurative labyrinthitis|bacterial labyrinthitis MONDO:0001752 alveolar periostitis biolink:Disease mondo ICD9:526.5|MESH:D004368|ICD10:M27.3|COHD:201332|UMLS:C0013240|SCTID:61804006|DOID:13585 A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed) UMLS:C0013240|DOID:13585|SNOMEDCT:61804006|MESH:D004368 http://purl.obolibrary.org/obo/MONDO_0001752 alveolitis of jaw|jaw skeleton extrinsic allergic alveolitis|dry socket|extrinsic allergic alveolitis of jaw skeleton|dry tooth socket MONDO:0001751 cholestasis biolink:Disease mondo ICD10:K83.1|DOID:13580|MESH:D002779|ICD9:576.2|UMLS:C0008370|COHD:201066|SCTID:30144000 Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. MESH:D002779|SNOMEDCT:30144000|UMLS:C0008370|DOID:13580|NCIT:C83006 http://purl.obolibrary.org/obo/MONDO_0001751 obstruction of bile duct|bile occlusion NCBITaxon:39724 Circoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39724 HGNC:20145 GPR143 biolink:OntologyClass mondo http://identifiers.org/hgnc/20145 MONDO:0001750 non-renal secondary hyperparathyroidism biolink:Disease mondo ICD9:252.02|DOID:13575 DOID:13575 http://purl.obolibrary.org/obo/MONDO_0001750 NCBITaxon:39725 Circovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39725 MONDO:0001756 frontal sinus cancer biolink:Disease mondo SCTID:363427000|UMLS:C0153478|NCIT:C3542|ICD10:C31.2|ICD9:160.4|DOID:1360 A malignant neoplasm involving the frontal sinus. UMLS:C0153478|NCIT:C3542|DOID:1360|SNOMEDCT:363427000 http://purl.obolibrary.org/obo/MONDO_0001756 malignant frontal sinus neoplasm|malignant tumor of the frontal sinus|malignant neoplasm of the frontal sinus|malignant frontal sinus tumor|malignant tumor of frontal sinus|cancer of frontal sinus|frontal sinus cancer|malignant neoplasm of frontal sinus MONDO:0001755 obsolete vaginal carcinosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001755 MONDO:0001754 eclampsia biolink:Disease mondo ICD10:O15.9|MESH:D004461|ICD10:O15|ICD9:642.64|DOID:13593|GARD:0006316|NCIT:C87167|UMLS:C0013537|SCTID:303063000|UMLS:C0156678 A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. UMLS:C0013537|SNOMEDCT:303063000|NCIT:C87167|DOID:13593|UMLS:C0156678|MESH:D004461 http://purl.obolibrary.org/obo/MONDO_0001754 eclampsia, postpartum|eclampsia in puerperium|postpartum eclampsia gard_rare MONDO:0001753 female infertility of uterine origin biolink:Disease mondo COHD:201635|ICD9:628.3|DOID:13589|ICD10:N97.2|SCTID:26899006 SNOMEDCT:26899006|DOID:13589 http://purl.obolibrary.org/obo/MONDO_0001753 infertility, female, of uterine origin MONDO:0013716 AAA4 biolink:Disease mondo OMIM:614375|UMLS:C3280597 UMLS:C3280597|http://identifiers.org/omim/614375 http://purl.obolibrary.org/obo/MONDO_0013716 AAA4|aortic aneurysm, familial abdominal, 4|aortic aneurysm, familial abdominal, 4; AAA4 MONDO:0013717 asphyxiating thoracic dystrophy 5 biolink:Disease mondo UMLS:C3280598|ICD10:Q77.2|OMIM:614376|DOID:0110089 Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. UMLS:C3280598|http://identifiers.org/omim/614376|DOID:0110089 http://purl.obolibrary.org/obo/MONDO_0013717 ATD5|asphyxiating thoracic dystrophy type 5|short-rib thoracic dysplasia 5 with or without polydactyly; SRTD5|asphyxiating thoracic dystrophy 5|Jeune syndrome caused by mutation in WDR19|SRTD5|WDR19 Jeune syndrome|short-rib thoracic dysplasia 5 with or without polydactyly HP:0000502 Abnormal conjunctiva morphology biolink:PhenotypicFeature mondo UMLS:C4025847 An abnormality of the conjunctiva. http://purl.obolibrary.org/obo/HP_0000502 hposlim_core MONDO:0013714 mannose-binding lectin deficiency biolink:Disease mondo OMIM:614372|ICD9:279.19|MESH:C563602|SCTID:703538003|UMLS:C3280586 MESH:C563602|UMLS:C3280586|http://identifiers.org/omim/614372|SNOMEDCT:703538003 http://purl.obolibrary.org/obo/MONDO_0013714 mannose-binding protein deficiency|lectin complement activation pathway, defect in, 1|mannose-binding lectin deficiency|MBL deficiency|mannose-binding lectin deficiency; MBLD|MBL2 deficiency|MBLD|MBP deficiency HP:0000505 Visual impairment biolink:PhenotypicFeature mondo UMLS:C0042798|MSH:D014786|SNOMEDCT_US:246635007|SNOMEDCT_US:397540003|UMLS:C3665347|MSH:D015354|SNOMEDCT_US:7973008 Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. http://purl.obolibrary.org/obo/HP_0000505 Visual impairment|Impaired vision|Loss of eyesight|Poor vision hposlim_core HP:0000504 Abnormality of vision biolink:PhenotypicFeature mondo UMLS:C4025846 Abnormality of eyesight (visual perception). http://purl.obolibrary.org/obo/HP_0000504 Abnormality of vision|Abnormality of sight|Vision issue hposlim_core MONDO:0013715 amyotrophic lateral sclerosis type 16 biolink:Disease mondo UMLS:C3280587|DOID:0060207|OMIM:614373 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene. DOID:0060207|UMLS:C3280587|http://identifiers.org/omim/614373 http://purl.obolibrary.org/obo/MONDO_0013715 amyotrophic lateral sclerosis caused by mutation in SIGMAR1|amyotrophic lateral sclerosis 16, juvenile|ALS16|SIGMAR1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 16, juvenile; ALS16|amyotrophic lateral sclerosis 16 HP:0000509 Conjunctivitis biolink:PhenotypicFeature mondo UMLS:C1864156|UMLS:C0009763|SNOMEDCT_US:9826008|MSH:D003231 Inflammation of the conjunctiva. http://purl.obolibrary.org/obo/HP_0000509 Pink eye|Conjunctivitis, recurrent hposlim_core MONDO:0013718 nephronophthisis 13 biolink:Disease mondo UMLS:C3280612|OMIM:614377|DOID:0111121 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. UMLS:C3280612|http://identifiers.org/omim/614377|DOID:0111121 http://purl.obolibrary.org/obo/MONDO_0013718 nephronophthisis type 13|NPHP13|nephronophthisis 13; NPHP13|nephronophthisis 13 HP:0000508 Ptosis biolink:PhenotypicFeature mondo MSH:D001763|SNOMEDCT_US:11934000|UMLS:C0005745 The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). http://purl.obolibrary.org/obo/HP_0000508 Eye drop|Drooping upper eyelid|Blepharoptosis|Eyelid ptosis hposlim_core MONDO:0013719 cranioectodermal dysplasia 4 biolink:Disease mondo OMIM:614378|UMLS:C3280616 UMLS:C3280616|http://identifiers.org/omim/614378 http://purl.obolibrary.org/obo/MONDO_0013719 cranioectodermal dysplasia 4; CED4|cranioectodermal dysplasia type 4|CED4|cranioectodermal dysplasia 4 MONDO:0013720 complement component 4b deficiency biolink:Disease mondo UMLS:C3280641|OMIM:614379|ICD10:D84.1|DOID:0060298 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene. http://identifiers.org/omim/614379|DOID:0060298|UMLS:C3280641 http://purl.obolibrary.org/obo/MONDO_0013720 complement component 4b deficiency|C4B classic complement early component deficiency|C4B deficiency|complement component 4B deficiency; C4BD|classic complement early component deficiency caused by mutation in C4B|C4BD MONDO:0013723 bacteremia, susceptibility to, 1 biolink:Disease mondo OMIM:614382 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene. http://identifiers.org/omim/614382 http://purl.obolibrary.org/obo/MONDO_0013723 bacteremia, susceptibility to, type 1|bacteremia, susceptibility to, 1; BACTS1|bacteremia, resistance to|bacteremia, susceptibility caused by mutation in TIRAP|bacteremia, susceptibility to, 1|TIRAP bacteremia, susceptibility|BACTS1 predisposition MONDO:0013724 bacteremia, susceptibility to, 2 biolink:Disease mondo OMIM:614383 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene. http://identifiers.org/omim/614383 http://purl.obolibrary.org/obo/MONDO_0013724 bacteremia, susceptibility to, type 2|bacteremia, susceptibility caused by mutation in CISH|bacteremia, susceptibility to, 2; BACTS2|bacteremia, susceptibility to, 2|CISH bacteremia, susceptibility|BACTS2 predisposition MONDO:0013721 complement component 4a deficiency biolink:Disease mondo OMIM:614380|UMLS:C3280642|ICD10:D84.1|MESH:C565167|DOID:0060297 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene. UMLS:C3280642|http://identifiers.org/omim/614380|MESH:C565167|DOID:0060297 http://purl.obolibrary.org/obo/MONDO_0013721 complement component 4a deficiency|C4A classic complement early component deficiency|C4AD|classic complement early component deficiency caused by mutation in C4A|C4A deficiency|complement component 4A deficiency; C4AD HP:0000501 Glaucoma biolink:PhenotypicFeature mondo SNOMEDCT_US:23986001|MSH:D005901|UMLS:C0017601 Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. http://purl.obolibrary.org/obo/HP_0000501 hposlim_core MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism biolink:Disease mondo ICD10:G11.1|UMLS:C3280644|DOID:0060797|OMIM:614381 Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene. UMLS:C3280644|http://identifiers.org/omim/614381|DOID:0060797 http://purl.obolibrary.org/obo/MONDO_0013722 HLD8|leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; HLD8|POLR3B leukodystrophy|leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism|leukodystrophy caused by mutation in POLR3B MONDO:0001749 cortical senile cataract biolink:Disease mondo DOID:13574|ICD9:366.15|UMLS:C0154980|SCTID:78875003|COHD:432895 A senile cataract that involves the lens cortex. UMLS:C0154980|SNOMEDCT:78875003|DOID:13574 http://purl.obolibrary.org/obo/MONDO_0001749 lens cortex senile cataract|senile cataract of lens cortex|cortical senile cataract MONDO:0001748 maxillary sinus carcinoma biolink:Disease mondo NCIT:C3540|SCTID:363425008|NCIT:C9332|DOID:1357|ICD9:160.2|ICD10:C31.0 A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma. DOID:1357|NCIT:C3540|SNOMEDCT:363425008|NCIT:C9332 http://purl.obolibrary.org/obo/MONDO_0001748 cancer of maxillary sinus|maxillary sinus carcinoma|malignant neoplasm of maxillary sinus|malignant neoplasm of the maxillary sinus|malignant maxillary sinus tumor|malignant neoplasm of antrum|malignant tumor of the maxillary sinus|maxillary sinus cancer|malignant tumor of maxillary sinus|carcinoma of maxillary sinus|malignant maxillary sinus neoplasm HGNC:5293 HTR2A biolink:OntologyClass mondo http://identifiers.org/hgnc/5293 MONDO:0001747 tibial collateral ligament bursitis biolink:Disease mondo DOID:13566|UMLS:C0158315|SCTID:44245003|ICD9:726.62|COHD:435626 SNOMEDCT:44245003|UMLS:C0158315|DOID:13566 http://purl.obolibrary.org/obo/MONDO_0001747 MONDO:0001746 optic disk drusen biolink:Disease mondo MESH:D015594|SCTID:33629003|DOID:13561|ICD9:377.21|COHD:436701|UMLS:C0029128|ICD10:H47.32 Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355) UMLS:C0029128|MESH:D015594|SNOMEDCT:33629003|DOID:13561 http://purl.obolibrary.org/obo/MONDO_0001746 optic nerve head drusen|drusen of optic disc MONDO:0023111 familial capillaro-venous leptomeningeal angiomatosis biolink:Disease mondo UMLS:C2931262|GARD:0009423|MESH:C536609 MESH:C536609|UMLS:C2931262 http://purl.obolibrary.org/obo/MONDO_0023111 gard_rare MONDO:0023113 familial colorectal cancer biolink:Disease mondo GARD:0008533|UMLS:CN029768 Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories. UMLS:CN029768 http://purl.obolibrary.org/obo/MONDO_0023113 hereditary colorectal cancer|colorectal cancer, familial gard_rare NCBITaxon:5820 Plasmodium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5820 MONDO:0011129 glaucoma type 1C biolink:Disease mondo OMIM:601682|GARD:0002484|UMLS:C1866483 UMLS:C1866483|http://identifiers.org/omim/601682 http://purl.obolibrary.org/obo/MONDO_0011129 GLC1C|glaucoma 1, primary open angle, C; GLC1C|glaucoma 1, primary open angle, C gard_rare MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type biolink:Disease mondo OMIM:601706|GARD:0005535|SCTID:721084001|Orphanet:3214|UMLS:C1866425|MESH:C536771 Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. MESH:C536771|SNOMEDCT:721084001|UMLS:C1866425|ORPHA:3214|http://identifiers.org/omim/601706 http://purl.obolibrary.org/obo/MONDO_0011133 Yemenite (Warburg) deaf-blind hypopigmentation syndrome|Yemenite deaf-blind hypopigmentation syndrome|Warburg-Thomsen syndrome|Warburg Thomsen syndrome ordo_malformation_syndrome MONDO:0013796 chromosome 17q12 duplication syndrome biolink:Disease mondo OMIM:614526|ICD10:Q92.3|Orphanet:261272|GARD:0013296|UMLS:C3281137|SCTID:764435003|DOID:0060433 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. UMLS:C3281137|DOID:0060433|SNOMEDCT:764435003|ORPHA:261272|http://identifiers.org/omim/614526 http://purl.obolibrary.org/obo/MONDO_0013796 trisomy 17q12|recurrent duplication of 17q12|17q12 microduplication|chromosome 17q12 duplication syndrome|17q12 duplication|dup(17)(q12)|17q12 microduplication syndrome ordo_malformation_syndrome MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy biolink:Disease mondo ICD10:D82.8|SCTID:720345008|MESH:C536781|DOID:0060769|OMIM:601705|Orphanet:169095|UMLS:C1866426|GARD:0004358 A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. ORPHA:169095|UMLS:C1866426|DOID:0060769|http://identifiers.org/omim/601705|SNOMEDCT:720345008|MESH:C536781 http://purl.obolibrary.org/obo/MONDO_0011132 winged helix deficiency|severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|alymphoid cystic thymic dysgenesis|T-cell immunodeficiency, congenital alopecia and nail dystrophy|T-cell immunodeficiency, congenital alopecia, and nail dystrophy|alopecia immunodeficiency|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|FOXN1 deficiency gard_rare|ordo_disease MONDO:0013797 chromosome 17q12 deletion syndrome biolink:Disease mondo ICD10:Q93.5|GARD:0013297|Orphanet:261265|DOID:0060404|UMLS:C3281138|UMLS:C4518822|SCTID:733519008|OMIM:614527 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported. UMLS:C3281138|DOID:0060404|ORPHA:261265|UMLS:C4518822|http://identifiers.org/omim/614527|SNOMEDCT:733519008 http://purl.obolibrary.org/obo/MONDO_0013797 17q12 deletion syndrome|17q12 microdeletion syndrome|Del(17)(q12)|17q12 recurrent deletion syndrome|monosomy 17q12|chromosome 17q12 deletion syndrome ordo_malformation_syndrome MONDO:0013794 thrombocythemia 3 biolink:Disease mondo UMLS:C3281125|OMIM:614521 Any essential thrombocythemia in which the cause of the disease is a mutation in the JAK2 gene. http://identifiers.org/omim/614521|UMLS:C3281125 http://purl.obolibrary.org/obo/MONDO_0013794 thrombocythemia type 3|JAK2 essential thrombocythemia|essential thrombocythemia caused by mutation in JAK2|thrombocytosis 3|thrombocythemia 3|thrombocythemia 3; THCYT3|THCYT3 MONDO:0011135 superior transverse scapular ligament, calcification of, familial biolink:Disease mondo UMLS:C1866424|OMIM:601708|MESH:C566638 UMLS:C1866424|http://identifiers.org/omim/601708|MESH:C566638 http://purl.obolibrary.org/obo/MONDO_0011135 superior transverse scapular ligament, calcification of, familial MONDO:0011134 curry-Jones syndrome biolink:Disease mondo OMIM:601707|SCTID:720819006|UMLS:C0795915|GARD:0005584|ICD10:Q87.0|MESH:C536735|Orphanet:1553 Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. MESH:C536735|SNOMEDCT:720819006|http://identifiers.org/omim/601707|ORPHA:1553|UMLS:C0795915 http://purl.obolibrary.org/obo/MONDO_0011134 CRJS|curry-JONES syndrome; CRJS|corpus callosum agenesis-polysyndactyly syndrome|corpus callosum agenesis polysyndactyly|curry-Jones syndrome|curry Jones syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development ordo_malformation_syndrome|gard_rare MONDO:0013795 fibrochondrogenesis 2 biolink:Disease mondo UMLS:C3281128|OMIM:614524 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene. UMLS:C3281128|http://identifiers.org/omim/614524 http://purl.obolibrary.org/obo/MONDO_0013795 fibrochondrogenesis 2; FBCG2|FBCG2|fibrochondrogenesis type 2|COL11A2 fibrochondrogenesis|fibrochondrogenesis 2|fibrochondrogenesis caused by mutation in COL11A2 HP:0000554 Uveitis biolink:PhenotypicFeature mondo UMLS:C0042164|MSH:D014605|SNOMEDCT_US:128473001 Inflammation of one or all portions of the uveal tract. http://purl.obolibrary.org/obo/HP_0000554 hposlim_core MONDO:0011137 retinitis pigmentosa 19 biolink:Disease mondo GARD:0010398|ICD10:H35.5|UMLS:C1866422|DOID:0110354|OMIM:601718|MESH:C566637 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene. DOID:0110354|UMLS:C1866422|http://identifiers.org/omim/601718|MESH:C566637 http://purl.obolibrary.org/obo/MONDO_0011137 retinitis pigmentosa 19|RP19|ABCA4 retinitis pigmentosa|retinitis pigmentosa 19; RP19|retinitis pigmentosa type 19|retinitis pigmentosa caused by mutation in ABCA4|RP 19 gard_rare HGNC:10799 SFTPA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10799 MONDO:0011136 Quebec platelet disorder biolink:Disease mondo MESH:C536260|ICD10:D69.1|GARD:0008345|UMLS:C1866423|Orphanet:220436|OMIM:601709|DOID:0111050 Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. UMLS:C1866423|ORPHA:220436|http://identifiers.org/omim/601709|DOID:0111050|MESH:C536260 http://purl.obolibrary.org/obo/MONDO_0011136 BDPLT5|platelet-type bleeding disorder 5|QPD|bleeding disorder, platelet-type, 5|factor 5 Quebec|Quebec platelet disorder|Quebec platelet disorder; QPD|factor V Quebec ordo_disease|gard_rare HP:0000553 Abnormal uvea morphology biolink:PhenotypicFeature mondo UMLS:C4025842 An abnormality of the uvea, the vascular layer of the eyeball. http://purl.obolibrary.org/obo/HP_0000553 Abnormality of the uvea HP:0000556 Retinal dystrophy biolink:PhenotypicFeature mondo SNOMEDCT_US:314407005|UMLS:C0854723|MSH:D058499 Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. http://purl.obolibrary.org/obo/HP_0000556 Breakdown of light-sensitive cells in back of eye MONDO:0011139 preaxial hallucal polydactyly biolink:Disease mondo MESH:C566632|OMIM:601759|UMLS:C1866339 MESH:C566632|UMLS:C1866339|http://identifiers.org/omim/601759 http://purl.obolibrary.org/obo/MONDO_0011139 preaxial hallucal polydactyly MONDO:0013798 chromosome 16q22 deletion syndrome biolink:Disease mondo OMIM:614541|UMLS:C3281152|DOID:0060401 UMLS:C3281152|DOID:0060401|http://identifiers.org/omim/614541 http://purl.obolibrary.org/obo/MONDO_0013798 chromosome 16q22 deletion syndrome MONDO:0011138 systemic lupus erythematosus, susceptibility to, 1 biolink:Disease mondo OMIM:601744 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene. http://identifiers.org/omim/601744 http://purl.obolibrary.org/obo/MONDO_0011138 systemic lupus erythematosus, susceptibility to, 1|systemic lupus erythematosus, susceptibility to, type 1|SLEB1|TLR5 systemic lupus erythematosus (disease)|susceptibility to systemic lupus erythematosus 1|systemic lupus erythematosus, susceptibility to, 1; SLEB1|systemic lupus erythematosus, resistance to, 1|systemic lupus erythematosus (disease) caused by mutation in TLR5 predisposition MONDO:0013799 efavirenz, poor metabolism of biolink:Disease mondo OMIM:614546 http://identifiers.org/omim/614546 http://purl.obolibrary.org/obo/MONDO_0013799 efavirenz, poor metabolism of|efavirenz central nervous system toxicity, susceptibility to HGNC:10798 SFTPA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10798 HGNC:19129 PSAT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19129 MONDO:0013792 intracerebral hemorrhage biolink:Disease mondo MESH:D002543|EFO:0005669|SCTID:274100004|ICD9:431|OMIM:614519 Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. SNOMEDCT:274100004|http://identifiers.org/omim/614519|MESH:D002543 http://purl.obolibrary.org/obo/MONDO_0013792 ich|hemorrhage, intracerebral, susceptibility to|hemorrhage, intracerebral, susceptibility to; ich|stroke, hemorrhagic, susceptibility to HGNC:19125 FGD4 biolink:OntologyClass mondo http://identifiers.org/hgnc/19125 MONDO:0013793 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency biolink:Disease mondo OMIM:614520|UMLS:C3281106 http://identifiers.org/omim/614520|UMLS:C3281106 http://purl.obolibrary.org/obo/MONDO_0013793 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency MONDO:0013790 mirror movements 2 biolink:Disease mondo UMLS:C3281089|OMIM:614508 Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene. http://identifiers.org/omim/614508|UMLS:C3281089 http://purl.obolibrary.org/obo/MONDO_0013790 RAD51 familial congenital mirror movements|familial congenital mirror movements caused by mutation in RAD51|mirror movements 2|mirror movements type 2|MRMV2|mirror movements 2; MRMV2 MONDO:0011131 tricho-oculo-dermo-vertebral syndrome biolink:Disease mondo GARD:0001553|OMIM:601701|MESH:C537441|Orphanet:3354 ORPHA:3354|http://identifiers.org/omim/601701|MESH:C537441 http://purl.obolibrary.org/obo/MONDO_0011131 Alves syndrome|Todv syndrome|Trichooculodermovertebral syndrome|ectodermal dysplasia - cataracts - kyphoscoliosis|ectodermal dysplasia-cataracts-kyphoscoliosis syndrome|Alves-dos Santos-Castelo syndrome|arthrogryposis and ectodermal dysplasia ordo_malformation_syndrome MONDO:0011130 sebaceous gland hyperplasia, familial presenile biolink:Disease mondo GARD:0010031|MESH:C537530|UMLS:C1866428|OMIM:601700 UMLS:C1866428|http://identifiers.org/omim/601700|MESH:C537530 http://purl.obolibrary.org/obo/MONDO_0011130 sebaceous gland hyperplasia, familial presenile gard_rare MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive biolink:Disease mondo UMLS:C3281092|OMIM:614514 http://identifiers.org/omim/614514|UMLS:C3281092 http://purl.obolibrary.org/obo/MONDO_0013791 thrombophilia due to protein S deficiency, autosomal recessive|thrombophilia due to PROTEIN S deficiency, autosomal recessive; THPH6|THPH6 MONDO:0023100 facial clefting corpus callosum agenesis biolink:Disease mondo GARD:0002220 http://purl.obolibrary.org/obo/MONDO_0023100 gard_rare MONDO:0023101 facio digito genital syndrome recessive form biolink:Disease mondo GARD:0002226 http://purl.obolibrary.org/obo/MONDO_0023101 gard_rare NCBITaxon:37124 Chikungunya virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_37124 NCBITaxon:5833 Plasmodium falciparum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5833 Plasmodium (Laverania) falciparum|malaria parasite P. falciparum MONDO:0023102 facio skeletal genital syndrome rippberger type biolink:Disease mondo GARD:0002227 http://purl.obolibrary.org/obo/MONDO_0023102 Ripperger Aase syndrome gard_rare HP:0012531 Pain biolink:PhenotypicFeature mondo SNOMEDCT_US:22253000|UMLS:C0030193|MSH:D010146 An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. http://purl.obolibrary.org/obo/HP_0012531 Pain HP:0012532 Chronic pain biolink:PhenotypicFeature mondo MSH:D059350|UMLS:C0150055|SNOMEDCT_US:82423001 Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. http://purl.obolibrary.org/obo/HP_0012532 Chronic pain|Long-lasting pain HGNC:22788 FEZF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/22788 MONDO:0023106 Fairbank disease biolink:Disease mondo MESH:C536393 MESH:C536393 http://purl.obolibrary.org/obo/MONDO_0023106 epiphyseal dysplasia Fairbank type|dysplasia epiphysealis multiplex|epiphyseal dysplasia, ribbing type|Fairbank multiple epiphyseal dysplasia|epiphyseal dysplasia, Fairbank type HP:0012535 Abnormal synaptic transmission biolink:PhenotypicFeature mondo UMLS:C4021083 An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. http://purl.obolibrary.org/obo/HP_0012535 Abnormality of neurotransmitter metabolism MONDO:0011119 iridogoniodysgenesis biolink:Disease mondo Orphanet:98634|DOID:0050786 ORPHA:98634|DOID:0050786 http://purl.obolibrary.org/obo/MONDO_0011119 IRID ordo_group_of_disorders HP:0000568 Microphthalmia biolink:PhenotypicFeature mondo Fyler:4877|MSH:D008850|SNOMEDCT_US:204108000|SNOMEDCT_US:61142002|UMLS:C0026010|UMLS:C4280808|UMLS:C4280625 A developmental anomaly characterized by abnormal smallness of one or both eyes. http://purl.obolibrary.org/obo/HP_0000568 Decreased size of eyeball|Abnormally small globe of eye|Microphthalmos|Abnormally small eyeball|Nanophthalmos|Decreased size of globe of eye hposlim_core MONDO:0011118 bilineal acute myeloid leukemia biolink:Disease mondo ICD10:C95.0|UMLS:C0349680|NCIT:C6923|Orphanet:98836 An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003 ORPHA:98836|UMLS:C0349680|NCIT:C6923 http://purl.obolibrary.org/obo/MONDO_0011118 acute bilineal leukemia|bilineal acute leukemia ordo_disease MONDO:0013785 intellectual disability, autosomal recessive 34 biolink:Disease mondo OMIM:614499|NCIT:C153179|UMLS:C3281044 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene. UMLS:C3281044|NCIT:C153179|http://identifiers.org/omim/614499 http://purl.obolibrary.org/obo/MONDO_0013785 intellectual disability, autosomal recessive type 34|mental retardation, autosomal recessive 34|mental retardation, autosomal recessive type 34|mental retardation, autosomal recessive 34, with variant lissencephaly|mental retardation, autosomal recessive 34, with variant lissencephaly; MRT34|intellectual disability, autosomal recessive 34, with variant lissencephaly|CRADD autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 34, with variant lissencephaly; MRT34|mental retardation, autosomal recessive 34; MRT34|intellectual disability, autosomal recessive 34|MRT34|intellectual disability, autosomal recessive 34; MRT34|autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD MONDO:0011122 obesity disorder biolink:Disease mondo HP:0001513|ICD9:278.00|NIFSTD:nlx_dys_20090302|NCIT:C3283|EFO:0001073|DOID:9970|ICD10:E66.9|COHD:433736|UMLS:C0028754|SCTID:414916001|ICD9:278.0 A disorder involving an excessive amount of body fat. SNOMEDCT:414916001|DOID:9970|NCIT:C3283|UMLS:C0028754 http://purl.obolibrary.org/obo/MONDO_0011122 leanness|obesity|obesity disease MONDO:0013786 cone-rod dystrophy 16 biolink:Disease mondo OMIM:614500|DOID:0111022|UMLS:C3281045 Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene. UMLS:C3281045|http://identifiers.org/omim/614500|DOID:0111022 http://purl.obolibrary.org/obo/MONDO_0013786 CORD16|cone-rod dystrophy type 16|cone-rod dystrophy 16; CORD16|C8orf37 cone-rod dystrophy|cone-rod dystrophy caused by mutation in C8orf37|retinal dystrophy with early macular involvement|cone-rod dystrophy 16|retinitis pigmentosa 64 MONDO:0011121 paragangliomas 2 biolink:Disease mondo OMIM:601650|MESH:C566646|GARD:0010544 Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene. http://identifiers.org/omim/601650|MESH:C566646 http://purl.obolibrary.org/obo/MONDO_0011121 paragangliomas 2|paraganglioma caused by mutation in SDHAF2|SDHAF2 paraganglioma|SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)|glomus tumors, familial, 2|PGL2|paragangliomas 2; PGL2|paragangliomas type 2 gard_rare MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome biolink:Disease mondo UMLS:C1866507|OMIM:601668|MESH:C566644|Orphanet:168451|ICD10:Q77.7 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. MESH:C566644|UMLS:C1866507|ORPHA:168451|http://identifiers.org/omim/601668 http://purl.obolibrary.org/obo/MONDO_0011124 spondyloepimetaphyseal dysplasia with abnormal dentition; SEMDAD|spondyloepimetaphyseal dysplasia with abnormal dentition|SEMDAD ordo_disease MONDO:0013783 microphthalmia, isolated, with coloboma 7 biolink:Disease mondo OMIM:614497|UMLS:C3281027 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene. UMLS:C3281027|http://identifiers.org/omim/614497 http://purl.obolibrary.org/obo/MONDO_0013783 microphthalmia, isolated, with coloboma caused by mutation in ABCB6|microphthalmia, isolated, with coloboma type 7|MCOPCB7|microphthalmia, isolated, with coloboma 7; MCOPCB7|microphthalmia, isolated, with coloboma 7|ABCB6 microphthalmia, isolated, with coloboma MONDO:0011123 type 1 diabetes mellitus 15 biolink:Disease mondo UMLS:C1866519|DOID:0110753|ICD10:E10|MESH:C566645|OMIM:601666 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21. MESH:C566645|DOID:0110753|UMLS:C1866519|http://identifiers.org/omim/601666 http://purl.obolibrary.org/obo/MONDO_0011123 insulin-dependent diabetes mellitus 15|IDDM15|diabetes mellitus, insulin-dependent, 15; IDDM15|diabetes mellitus, insulin-dependent, 15 MONDO:0013784 lethal neonatal spasticity-epileptic encephalopathy syndrome biolink:Disease mondo UMLS:C3281029|ICD10:G40.4|EFO:0009144|OMIM:614498|Orphanet:435845 ORPHA:435845|UMLS:C3281029|http://identifiers.org/omim/614498 http://purl.obolibrary.org/obo/MONDO_0013784 rigidity and multifocal seizure syndrome, lethal neonatal; RMFSL|RMFSL|lethal neonatal rigidity-multifocal seizure syndrome|rigidity and multifocal seizure syndrome, lethal neonatal ordo_malformation_syndrome MONDO:0011126 acute insulin response biolink:Disease mondo COHD:19103572|OMIM:601676 http://identifiers.org/omim/601676 http://purl.obolibrary.org/obo/MONDO_0011126 Air|acute insulin response MONDO:0013789 DDOST-CDG biolink:Disease mondo ICD10:E77.8|OMIM:614507|GARD:0012398|UMLS:C3281084|Orphanet:300536|SCTID:733083006 (1p36.1). UMLS:C3281084|ORPHA:300536|http://identifiers.org/omim/614507|SNOMEDCT:733083006 http://purl.obolibrary.org/obo/MONDO_0013789 congenital disorder of glycosylation, type Ir|congenital disorder of glycosylation type 1r|carbohydrate deficient glycoprotein syndrome type Ir|CDG-Ir|CDG syndrome type Ir|congenital disorder of glycosylation, type Ir; CDG1R|congenital disorder of glycosylation type Ir|carbohydrate deficient glycoprotein syndrome type|DDOST-CDG (CDG-Ir)|CDG1R ordo_disease MONDO:0011125 trichothiodystrophy 1, photosensitive biolink:Disease mondo OMIM:601675|Orphanet:670 ORPHA:670|http://identifiers.org/omim/601675 http://purl.obolibrary.org/obo/MONDO_0011125 Tay syndrome|PIBIDS syndrome|trichothiodystrophy with congenital ichthyosis|trichothiodystrophy 1, photosensitive; TTD1|trichothiodystrophy 1, photosensitive|trichothiodystrophy, photosensitive|TTD1|ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism biolink:Disease mondo OMIM:614501|UMLS:C3281055 UMLS:C3281055|http://identifiers.org/omim/614501 http://purl.obolibrary.org/obo/MONDO_0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism; PMRED|PMRED|psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0011128 Sheldon-hall syndrome biolink:Disease mondo Orphanet:1147|GARD:0009909|OMIM:601680|ICD10:Q68.8|UMLS:C1834523 Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. UMLS:C1834523|http://identifiers.org/omim/601680|ORPHA:1147 http://purl.obolibrary.org/obo/MONDO_0011128 DA2B|Freeman Sheldon variant|arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities|arthrogryposis, distal, type 2B; DA2B|Freeman-Sheldon syndrome variant|arthrogryposis multiplex congenita, distal, type 2B|arthrogryposis multiplex congenita distal type 2B|Freeman Sheldon syndrome, variant|Sheldon-Hall syndrome|arthrogryposis, distal, type 2B|distal arthrogryposis type 2B|arthrogryposis multiplex congenita distal type II with craniofacial abnormalities ordo_malformation_syndrome MONDO:0013788 Usher syndrome type 3B biolink:Disease mondo UMLS:C3281066|DOID:0110842|OMIM:614504|ICD10:H35.5 Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene. UMLS:C3281066|DOID:0110842|http://identifiers.org/omim/614504 http://purl.obolibrary.org/obo/MONDO_0013788 USH3B|USHER syndrome, type IIIB|HARS Usher syndrome|Usher syndrome, type 3B|Usher syndrome type IIIB|USHER syndrome, type IIIB; USH3B|Usher syndrome caused by mutation in HARS MONDO:0011127 Bartter disease type 1 biolink:Disease mondo GARD:0000830|Orphanet:93604|MESH:C537652|DOID:0110142|ICD10:E26.8|SCTID:700107006|OMIM:601678 Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome MESH:C537652|DOID:0110142|SNOMEDCT:700107006|ORPHA:93604|http://identifiers.org/omim/601678 http://purl.obolibrary.org/obo/MONDO_0011127 Bartter syndrome type 1|hypokalemic alkalosis with hypercalciuria, antenatal, 1|Bartter syndrome type 1 antenatal|Bartter syndrome, furosemide type|Bartter syndrome, type 1, antenatal|hypokalemic alkalosis with hypercalciuria 1 antenatal|antenatal Bartter syndrome type 1|hypokalemic alkalosis with hypercalciuria antenatal 1|Bartter syndrome, antenatal, type 1|hyperprostaglandin E syndrome 1|hyperprostaglandin E syndrome 1|hyperprostaglandin E syndrome|hypokalemic alkalosis with hypercalciuria 1, antenatal|Bartter syndrome caused by mutation in SLC12A1|Bartter syndrome, furosemide-amiloride type|Bartter syndrome, type 1, antenatal; BARTS1|antenatal Bartter syndrome|BARTS1|SLC12A1 Bartter syndrome|Bartter syndrome antenatal type 1 ordo_clinical_subtype|gard_rare HGNC:19139 POMGNT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19139 MONDO:0013781 pseudohypoaldosteronism type 2D biolink:Disease mondo UMLS:C3469605|Orphanet:300525|ICD10:I15.1|OMIM:614495 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. ORPHA:300525|UMLS:C3469605|http://identifiers.org/omim/614495 http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism, type IID|KLHL3 pseudohypoaldosteronism type 2|familial hyperkalemic hypertension|PHA2D|pseudohypoaldosteronism type 2 caused by mutation in KLHL3|pseudohypoaldosteronism, type IID; PHA2D|pseudohypoaldosteronism, type 2D ordo_etiological_subtype MONDO:0013782 pseudohypoaldosteronism type 2E biolink:Disease mondo Orphanet:300530|UMLS:C3469606|ICD10:I15.1|OMIM:614496 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. ORPHA:300530|UMLS:C3469606|http://identifiers.org/omim/614496 http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism, type IIE|PHA2E|pseudohypoaldosteronism type 2 caused by mutation in CUL3|pseudohypoaldosteronism type 2 caused by mutation in Cul3|CUL3 pseudohypoaldosteronism type 2|Cul3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type 2E|pseudohypoaldosteronism, type IIE; PHA2E ordo_etiological_subtype MONDO:0011120 neural tube defects, folate-sensitive biolink:Disease mondo UMLS:C1866558|OMIM:601634 UMLS:C1866558|http://identifiers.org/omim/601634 http://purl.obolibrary.org/obo/MONDO_0011120 spina bifida, folate-sensitive|neural tube defects, folate-sensitive; NTDFS|neural tube defects, folate-sensitive|NTDFS|NTD, folate-sensitive MONDO:0013780 retinitis pigmentosa 63 biolink:Disease mondo ICD10:H35.5|UMLS:C3281002|DOID:0110385|OMIM:614494 A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23. http://identifiers.org/omim/614494|UMLS:C3281002|DOID:0110385 http://purl.obolibrary.org/obo/MONDO_0013780 retinitis pigmentosa 63; RP63|retinitis pigmentosa 63|retinitis pigmentosa type 63|RP63 MONDO:0001785 malignant secondary hypertension biolink:Disease mondo UMLS:C0155617|COHD:318437|SCTID:89242004|DOID:13731|ICD9:405.09|ICD9:405.0 DOID:13731|UMLS:C0155617|SNOMEDCT:89242004 http://purl.obolibrary.org/obo/MONDO_0001785 MONDO:0001784 malignant renovascular hypertension biolink:Disease mondo DOID:13730 DOID:13730 http://purl.obolibrary.org/obo/MONDO_0001784 malignant renal artery stenosis|malignant renal hypertension HGNC:19100 IL23R biolink:OntologyClass mondo http://identifiers.org/hgnc/19100 MONDO:0001783 endometrial stromal nodule biolink:Disease mondo UMLS:C0334485|EFO:1000241|DOID:1373|SCTID:721571001|NCIT:C4262|ICDO:8930/0 A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia. SNOMEDCT:721571001|DOID:1373|NCIT:C4262|UMLS:C0334485 http://purl.obolibrary.org/obo/MONDO_0001783 MONDO:0001782 mature cataract biolink:Disease mondo ICD9:366.17|COHD:377285|SCTID:849000|DOID:13717 A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity. DOID:13717|SNOMEDCT:849000 http://purl.obolibrary.org/obo/MONDO_0001782 total, mature senile cataract|total or mature cataract MONDO:0001789 neurofibroma of spinal cord biolink:Disease mondo UMLS:C1336047|NCIT:C5145|DOID:13742 A neurofibroma that arises from the spinal cord. DOID:13742|NCIT:C5145|UMLS:C1336047 http://purl.obolibrary.org/obo/MONDO_0001789 neurofibroma of spinal cord|spinal cord neurofibroma MONDO:0001788 nutmeg liver biolink:Disease mondo DOID:13739|COHD:200451|ICD9:573.0|ICD10:K76.1|SCTID:34736002|UMLS:C0156195 SNOMEDCT:34736002|UMLS:C0156195|DOID:13739 http://purl.obolibrary.org/obo/MONDO_0001788 chronic passive congestion of liver MONDO:0001787 hepatic infarction biolink:Disease mondo UMLS:C0151731|DOID:13738|ICD9:573.4|COHD:194417|ICD10:K76.3|SCTID:17890003 DOID:13738|SNOMEDCT:17890003|UMLS:C0151731 http://purl.obolibrary.org/obo/MONDO_0001787 infarct of liver MONDO:0001786 uterine inflammatory disease biolink:Disease mondo ICD10:N71.9|DOID:13736|SCTID:28783002|ICD9:615.9|COHD:196162|UMLS:C0269047 SNOMEDCT:28783002|DOID:13736|UMLS:C0269047 http://purl.obolibrary.org/obo/MONDO_0001786 inflammatory disease of the uterus MONDO:0011108 Stüve-Wiedemann syndrome biolink:Disease mondo MESH:C537502|GARD:0005045|UMLS:C0432240|UMLS:C0796176|ICD10:Q78.8|OMIM:601559|Orphanet:3206|SCTID:254097005 Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. ORPHA:3206|UMLS:C0796176|http://identifiers.org/omim/601559|MESH:C537502|UMLS:C0432240|SNOMEDCT:254097005 http://purl.obolibrary.org/obo/MONDO_0011108 Stüve-Wiedemann syndrome|Schwartz-Jampel syndrome, neonatal|Stüve-Wiedemann dysplasia|Stws|Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome|neonatal Schwartz-Jampel syndrome|Schwartz-Jampel syndrome, type 2|Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome|Schwartz-Jampel syndrome type 2|Schwartz-Jampel syndrome neonatal|SJS2|STUVE-Wiedemann syndrome|neonatal Schwartz-Jampel syndrome type 2 ordo_malformation_syndrome UBERON_CORE:channels_from channels_from biolink:OntologyClass mondo http://purl.obolibrary.org/obo/uberon/core#channels_from MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy biolink:Disease mondo ICD10:Q84.0|OMIM:601553|UMLS:C1832162|DOID:0110711|MESH:C537698|Orphanet:1573|GARD:0003066 Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. http://identifiers.org/omim/601553|UMLS:C1832162|ORPHA:1573|MESH:C537698|DOID:0110711 http://purl.obolibrary.org/obo/MONDO_0011107 hypotrichosis with cone-rod dystrophy|hypotrichosis with cone-rod dystrophy|hypotrichosis with juvenile macular dystrophy|hypotrichosis, congenital, with juvenile macular dystrophy; HJMD|Hjmd|juvenile macular degeneration and hypotrichosis|HJMD|juvenile macular dystrophy and congenital hypotrichosis|hypotrichosis with juvenile macular degeneration|hypotrichosis, congenital, with juvenile macular dystrophy ordo_malformation_syndrome MONDO:0013769 atrioventricular septal defect 5 biolink:Disease mondo OMIM:614474|UMLS:C3280939 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene. UMLS:C3280939|http://identifiers.org/omim/614474 http://purl.obolibrary.org/obo/MONDO_0013769 atrioventricular septal defect caused by mutation in GATA6|AVSD5|atrioventricular septal defect 5|atrioventricular septal defect type 5|atrioventricular septal defect 5; AVSD5|GATA6 atrioventricular septal defect HGNC:10768 SF3B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10768 NCBITaxon:5809 Sarcocystidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5809 Sarcocystids MONDO:0011109 multiple epiphyseal dysplasia, Lowry type biolink:Disease mondo UMLS:C1832112|Orphanet:166016|SCTID:768935003|OMIM:601560|ICD10:Q78.8|MESH:C563291 Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. ORPHA:166016|http://identifiers.org/omim/601560|SNOMEDCT:768935003|UMLS:C1832112|MESH:C563291 http://purl.obolibrary.org/obo/MONDO_0011109 epiphyseal dysplasia, multiple, with Robin phenotype|multiple epiphyseal dysplasia with ROBIN phenotype|multiple epiphyseal dysplasia with Robin phenotype ordo_disease MONDO:0001781 uterine corpus adenomatoid tumor biolink:Disease mondo UMLS:C1336902|DOID:1371|NCIT:C27250 A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures. NCIT:C27250|DOID:1371|UMLS:C1336902 http://purl.obolibrary.org/obo/MONDO_0001781 uterine corpus localized epithelial mesothelioma|body of uterus adenomatoid tumor|uterine corpus adenomatoid tumor NCBITaxon:5806 Cryptosporidium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5806 MONDO:0001780 premature ejaculation (disease) biolink:Disease mondo HP:0012876|ICD10:F52.4|ICD9:302.75|NCIT:C94349|MESH:D061686|DOID:13709|COHD:434319 A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it. DOID:13709|MESH:D061686|NCIT:C94349 http://purl.obolibrary.org/obo/MONDO_0001780 premature ejaculation NCBITaxon:5807 Cryptosporidium parvum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5807 MONDO:0013774 trigonocephaly 2 biolink:Disease mondo OMIM:614485 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene. http://identifiers.org/omim/614485 http://purl.obolibrary.org/obo/MONDO_0013774 FREM1 isolated trigonocephaly|trigonocephaly 2|isolated trigonocephaly caused by mutation in FREM1|trigonocephaly 2; TRIGNO2|craniosynostosis, metopic|TRIGNO2|trigonocephaly type 2 MONDO:0011111 horns in sheep biolink:Disease mondo OMIM:601563 http://identifiers.org/omim/601563 http://purl.obolibrary.org/obo/MONDO_0011111 horns in sheep|Ho MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome biolink:Disease mondo UMLS:C1832111|OMIM:601561|GARD:0002025|Orphanet:1804|MESH:C563290 This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children. ORPHA:1804|MESH:C563290|http://identifiers.org/omim/601561|UMLS:C1832111 http://purl.obolibrary.org/obo/MONDO_0011110 dyssegmental dysplasia and glaucoma|dyssegmental dysplasia with glaucoma gard_rare|ordo_malformation_syndrome MONDO:0013775 thrombomodulin-related bleeding disorder biolink:Disease mondo OMIM:614486|MESH:C566057|Orphanet:436169|UMLS:C3280976|ICD10:D68.3 UMLS:C3280976|http://identifiers.org/omim/614486|MESH:C566057|ORPHA:436169 http://purl.obolibrary.org/obo/MONDO_0013775 THPH12|THBD-related bleeding disorder|thrombophilia due to thrombomodulin defect|thrombomodulin-related coagulopathy|THBD-related coagulopathy|thrombophilia due to thrombomodulin defect; THPH12 ordo_disease MONDO:0011113 Charcot-Marie-Tooth disease type 4C biolink:Disease mondo MESH:C535423|NCIT:C129864|Orphanet:99949|UMLS:C1866636|SCTID:715797002|GARD:0009201|OMIM:601596|ICD10:G60.0|DOID:0110183 Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. SNOMEDCT:715797002|ORPHA:99949|NCIT:C129864|DOID:0110183|MESH:C535423|UMLS:C1866636|http://identifiers.org/omim/601596 http://purl.obolibrary.org/obo/MONDO_0011113 SH3TC2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, type 4C|Charcot-Marie-Tooth neuropathy type 4C|Charcot-Marie-Tooth neuropathy, type 4C|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C|CMT 4C|CMT4C|Charcot Marie Tooth disease type 4C|Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2|Charcot-Marie-Tooth disease, type 4C; CMT4C ordo_disease|gard_rare MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome biolink:Disease mondo OMIM:614482|Orphanet:300313|UMLS:C3280965 ORPHA:300313|UMLS:C3280965|http://identifiers.org/omim/614482 http://purl.obolibrary.org/obo/MONDO_0013772 lethal neurodegenerative disorder due to copper transport defect|CCHLND|congenital cataracts, hearing loss, and neurodegeneration; CCHLND|congenital cataract-deafness-severe developmental delay syndrome|congenital cataracts, hearing loss, and neurodegeneration ordo_disease HGNC:10771 SF3B4 biolink:OntologyClass mondo http://identifiers.org/hgnc/10771 MONDO:0013773 porencephaly 2 biolink:Disease mondo UMLS:C3280970|OMIM:614483 Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene. UMLS:C3280970|http://identifiers.org/omim/614483 http://purl.obolibrary.org/obo/MONDO_0013773 COL4A2 porencephaly|porencephaly type 2|porencephaly 2|POREN2|porencephaly caused by mutation in COL4A2|porencephaly 2; POREN2 MONDO:0011112 Wilms tumor 5 biolink:Disease mondo GARD:0005578|OMIM:601583|MESH:C536707 Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene. MESH:C536707|http://identifiers.org/omim/601583 http://purl.obolibrary.org/obo/MONDO_0011112 Wilms tumor 5|WT5|Wilms tumor 5; WT5|Wilms tumor and radial bilateral aplasia|bilateral radial aplasia with Wilms tumor|Wilms tumor, susceptibility to|Wilms tumor type 5 MONDO:0013778 pseudohypoaldosteronism type 2C biolink:Disease mondo Orphanet:88940|MESH:C564162|OMIM:614492|ICD10:I15.1|UMLS:C1840391 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. MESH:C564162|UMLS:C1840391|http://identifiers.org/omim/614492|ORPHA:88940 http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism, type 2C|pseudohypoaldosteronism, type IIC|PHA2C|pseudohypoaldosteronism type 2 caused by mutation in WNK1|WNK1 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIC; PHA2C ordo_etiological_subtype MONDO:0011115 spastic paraplegia and Evans syndrome biolink:Disease mondo MESH:C566652|OMIM:601608|UMLS:C1866619 MESH:C566652|UMLS:C1866619|http://identifiers.org/omim/601608 http://purl.obolibrary.org/obo/MONDO_0011115 spastic paraplegia and Evans syndrome HP:0000532 Abnormal chorioretinal morphology biolink:PhenotypicFeature mondo UMLS:C4025844 An abnormality of the choroid and retina. http://purl.obolibrary.org/obo/HP_0000532 Chorioretinal abnormality MONDO:0011114 familial multiple trichoepithelioma biolink:Disease mondo GARD:0010867|ICD10:D23.3|UMLS:C1275122|Orphanet:867|SCTID:403825008 MESH:C536552|ORPHA:867|UMLS:C1275122|SNOMEDCT:403825008 http://purl.obolibrary.org/obo/MONDO_0011114 Brooke-Fordyce Trichoepitheliomas|epithelioma Adenoides Cysticum of Brooke|epithelioma, hereditary multiple benign cystic|epithelioma adenoides cysticum|hereditary multiple benign cystic epithelioma|trichoepithelioma multiple familial|multiple familial trichoepithelioma ordo_clinical_subtype MONDO:0013779 Wiskott-Aldrich syndrome 2 biolink:Disease mondo UMLS:C3281001|OMIM:614493|OMIM:277970 Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene. UMLS:C3281001|http://identifiers.org/omim/614493|http://identifiers.org/omim/277970 http://purl.obolibrary.org/obo/MONDO_0013779 Wiskott-Aldrich syndrome type 2|Wipf1 deficiency|WIPF1 Wiskott-Aldrich syndrome|WAS2|Wiskott-Aldrich syndrome caused by mutation in WIPF1|Wiskott-Aldrich syndrome 2|Wiskott-Aldrich syndrome 2; WAS2 HGNC:10778 SFRP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/10778 MONDO:0013776 spastic ataxia 5 biolink:Disease mondo UMLS:C3280977|OMIM:614487|Orphanet:313772|ICD10:G11.4|DOID:0050944 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. DOID:0050944|ORPHA:313772|UMLS:C3280977|http://identifiers.org/omim/614487 http://purl.obolibrary.org/obo/MONDO_0013776 SPAX5|autosomal recessive spastic ataxia type 5|autosomal recessive spastic ataxia caused by mutation in AFG3L2|AFG3L2-related spastic ataxia-neuropathy syndrome|spastic ataxia 5, autosomal recessive|AFG3L2 autosomal recessive spastic ataxia|spastic ataxia type 5|AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome|spastic ataxia 5, autosomal recessive; SPAX5 ordo_disease MONDO:0011117 iris pigment epithelium anomalies biolink:Disease mondo MESH:C566651|UMLS:C1866608|OMIM:601616 MESH:C566651|UMLS:C1866608|http://identifiers.org/omim/601616 http://purl.obolibrary.org/obo/MONDO_0011117 iris pigment epithelium anomalies|ruffles and cysts of iris pigment epithelium|cysts of iris pigment epithelium HP:0000534 Abnormal eyebrow morphology biolink:PhenotypicFeature mondo UMLS:C4011556 An abnormality of the eyebrow. http://purl.obolibrary.org/obo/HP_0000534 Abnormality of the eyebrow hposlim_core MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome biolink:Disease mondo ICD10:Q87.8|SCTID:721976003|GARD:0003378|MESH:C535708|OMIM:601612|Orphanet:1120 Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. ORPHA:1120|SNOMEDCT:721976003|MESH:C535708|http://identifiers.org/omim/601612 http://purl.obolibrary.org/obo/MONDO_0011116 Mardini-Nyhan association|Manouvrier syndrome|lung agenesis, congenital heart defects, and thumb anomalies syndrome; LACHT|lung agenesis, congenital heart defects, and thumb anomalies syndrome|lung agenesis heart defect thumb anomalies|Mardini-Nyhan syndrome|pulmonary aplasia and triphalangia of the thumb|LACHT ordo_malformation_syndrome|gard_rare MONDO:0013777 pseudohypoaldosteronism type 2B biolink:Disease mondo ICD10:I15.1|Orphanet:88939|MESH:C564161|OMIM:614491|UMLS:C1840390 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. MESH:C564161|UMLS:C1840390|http://identifiers.org/omim/614491|ORPHA:88939 http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism, type IIB|pseudohypoaldosteronism type 2 caused by mutation in WNK4|PHA2B|WNK4 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIB; PHA2B|pseudohypoaldosteronism, type 2B ordo_etiological_subtype MONDO:0001779 vaginal squamous papilloma biolink:Disease mondo NCIT:C6374|DOID:137|UMLS:C1336943 A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus. DOID:137|NCIT:C6374|UMLS:C1336943 http://purl.obolibrary.org/obo/MONDO_0001779 squamous papilloma of the vagina|vagina squamous papilloma|vaginal squamous papilloma|squamous papilloma of vagina MONDO:0013770 atrial heart septal defect 9 biolink:Disease mondo UMLS:C3280943|OMIM:614475|DOID:0110114|ICD10:Q21.1 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene. DOID:0110114|UMLS:C3280943|http://identifiers.org/omim/614475 http://purl.obolibrary.org/obo/MONDO_0013770 atrial heart septal defect type 9|GATA6 atrial heart septal defect|atrial septal defect 9|atrial septal defect 9; ASD9|ASD9|atrial septal defect type 9|atrial heart septal defect caused by mutation in GATA6 MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis biolink:Disease mondo Orphanet:300293|OMIM:614480|UMLS:C3280953 ORPHA:300293|UMLS:C3280953|http://identifiers.org/omim/614480 http://purl.obolibrary.org/obo/MONDO_0013771 HTGTI|hypertriglyceridemia, transient infantile|hypertriglyceridemia, transient infantile; HTGTI|transient infantile hypertriglyceridemia and fatty liver ordo_disease HGNC:19104 NPHP4 biolink:OntologyClass mondo http://identifiers.org/hgnc/19104 HGNC:19102 DDX58 biolink:OntologyClass mondo http://identifiers.org/hgnc/19102 MONDO:0001796 obsolete epidermodysplasia verruciformis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0001796 MONDO:0001795 plantar wart biolink:Disease mondo EFO:1002023|COHD:137785|SCTID:63440008|DOID:13775|NCIT:C26913|UMLS:C0042548|ICD10:B07.0|ICD9:078.12 A wart in the plantar surface of the foot. It is caused by human papillomavirus. DOID:13775|NCIT:C26913|SNOMEDCT:63440008|UMLS:C0042548 http://purl.obolibrary.org/obo/MONDO_0001795 plantar wart|verruca plantaris MONDO:0001794 Pthirus pubis infestation biolink:Disease mondo SCTID:71011005|UMLS:C0030759|ICD10:B85.3|DOID:13760|ICD9:132.2|NCIT:C35777 Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects. SNOMEDCT:71011005|DOID:13760|NCIT:C35777|UMLS:C0030759 http://purl.obolibrary.org/obo/MONDO_0001794 infections, Pthirus pubis|Pediculus pubis|phthiriasis pubis|Pthirus pubis infection|crabs|Phthirus pubis [pubic louse]|infestation by Phthirus pubis|Phthirus/pediculus pubis - pubic lice - crabs|phthiriasis|Phthirus/pediculus pubis - pubic lice - crabs (& infestation)|Phthirus pubis|pediculosis pubis NCBITaxon:5811 Toxoplasma gondii organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5811 MONDO:0001793 excessive tearing biolink:Disease mondo UMLS:C0152227|ICD10:H04.2|DOID:13757|ICD9:375.2|ICD9:375.20|COHD:435553|MESH:D007766|SCTID:193982009|ICD10:H04.20 Diseases of the lacrimal apparatus. MESH:D007766|DOID:13757|UMLS:C0152227|SNOMEDCT:193982009|NCIT:C50552 http://purl.obolibrary.org/obo/MONDO_0001793 lacrimal apparatus disease|diseases, lacrimal apparatus|epiphora|watering eye|excessive tear production|apparatus diseases, lacrimal|disease, lacrimal apparatus|apparatus disease, lacrimal MONDO:0001799 localized anterior staphyloma biolink:Disease mondo UMLS:C0155362|ICD10:H15.82|ICD9:379.14|SCTID:21946002|DOID:13787 DOID:13787|UMLS:C0155362|SNOMEDCT:21946002 http://purl.obolibrary.org/obo/MONDO_0001799 anterior staphyloma, localized NCBITaxon:5810 Toxoplasma organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5810 MONDO:0001798 hypermobility syndrome biolink:Disease mondo SCTID:85551004|ICD10:M35.7|UMLS:C0152093|COHD:76790|ICD9:728.5|DOID:13781 DOID:13781|UMLS:C0152093|SNOMEDCT:85551004 http://purl.obolibrary.org/obo/MONDO_0001798 benign joint hypermobility HGNC:20105 FLVCR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/20105 MONDO:0001797 chancroid biolink:Disease mondo ICD10:A57|SCTID:266143009|DOID:13778|COHD:138973|ICD9:099.0|UMLS:C0007947|MESH:D002602|GARD:0009522 Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery. SNOMEDCT:266143009|UMLS:C0007947|DOID:13778|MESH:D002602 http://purl.obolibrary.org/obo/MONDO_0001797 Ulcus molle, skin|Chancroids gard_rare HP:0000546 Retinal degeneration biolink:PhenotypicFeature mondo MSH:D012162|SNOMEDCT_US:95695004|UMLS:C0035304 A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. http://purl.obolibrary.org/obo/HP_0000546 Retina degeneration hposlim_core MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E biolink:Disease mondo ICD10:G60.0|Orphanet:93114|OMIM:614455|UMLS:C3280845|SCTID:722294004|DOID:0110205|UMLS:C4302667|GARD:0012011 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. http://identifiers.org/omim/614455|DOID:0110205|UMLS:C4302667|SNOMEDCT:722294004|ORPHA:93114|UMLS:C3280845 http://purl.obolibrary.org/obo/MONDO_0013758 CMTDIE|Charcot-Marie-Tooth disease dominant intermediate type E|Charcot-Marie-Tooth disease, dominant Intermediate type E|Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis|autosomal dominant intermediate Charcot-Marie-Tooth disease type E|Charcot-Marie-Tooth disease, dominant intermediate E; CMTDIE|Charcot-Marie-Tooth disease, dominant intermediate E|Charcot-Marie-Tooth disease - nephropathy|Charcot-Marie-Tooth disease-nephropathy syndrome ordo_disease HP:0000549 Abnormal conjugate eye movement biolink:PhenotypicFeature mondo UMLS:C1845274 Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. http://purl.obolibrary.org/obo/HP_0000549 Disconjugate eye movements NCBITaxon:5819 Haemosporida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5819 Haemosporina|Haemospororida|haemosporidians MONDO:0013759 MITF-related melanoma and renal cell carcinoma predisposition syndrome biolink:Disease mondo Orphanet:293822|OMIM:614456 MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. http://identifiers.org/omim/614456|ORPHA:293822 http://purl.obolibrary.org/obo/MONDO_0013759 melanoma and renal cell carcinoma, susceptibility to|melanoma, cutaneous malignant, susceptibility to, type 8|susceptibility to cutaneous malignant melanoma 8|melanoma, cutaneous malignant, susceptibility to, 8; CMM8|melanoma, cutaneous malignant, susceptibility to, 8|CMM8 predisposition|ordo_disease MONDO:0001792 epiphora due to insufficient drainage biolink:Disease mondo ICD9:375.22|DOID:13756|UMLS:C0155234|SCTID:85042000|COHD:438156|ICD10:H04.22 UMLS:C0155234|DOID:13756|SNOMEDCT:85042000 http://purl.obolibrary.org/obo/MONDO_0001792 MONDO:0001791 neonatal urinary tract infectious disease biolink:Disease mondo ICD10:P39.3|ICD9:771.82|SCTID:12301009|DOID:1375|UMLS:C0235815 UMLS:C0235815|DOID:1375|SNOMEDCT:12301009 http://purl.obolibrary.org/obo/MONDO_0001791 urinary tract infection of newborn MONDO:0001790 spinal cord lipoma biolink:Disease mondo SCTID:189017000|DOID:13743|NCIT:C4619|UMLS:C0347446|ICD9:214.8 A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare. DOID:13743|SNOMEDCT:189017000|UMLS:C0347446|NCIT:C4619 http://purl.obolibrary.org/obo/MONDO_0001790 lipoma of spinal cord|spinal cord lipoma MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract biolink:Disease mondo UMLS:C1832214|MESH:C563296|OMIM:601537 MESH:C563296|http://identifiers.org/omim/601537|UMLS:C1832214 http://purl.obolibrary.org/obo/MONDO_0011100 microcephaly, retinitis pigmentosa, and sutural cataract MONDO:0013763 Joubert syndrome 15 biolink:Disease mondo UMLS:C3280897|DOID:0110984|OMIM:614464 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene. DOID:0110984|UMLS:C3280897|http://identifiers.org/omim/614464 http://purl.obolibrary.org/obo/MONDO_0013763 Joubert syndrome 12/15, digenic|Joubert syndrome caused by mutation in CEP41|Joubert syndrome 9/15, digenic|CEP41 Joubert syndrome|JBTS15|Joubert syndrome type 15|Joubert syndrome 15; JBTS15|Joubert syndrome 15 MONDO:0013764 Joubert syndrome 16 biolink:Disease mondo OMIM:614465|DOID:0110985|UMLS:C3280906 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene. DOID:0110985|UMLS:C3280906|http://identifiers.org/omim/614465 http://purl.obolibrary.org/obo/MONDO_0013764 JBTS16|Joubert syndrome caused by mutation in TMEM138|Joubert syndrome type 16|Joubert syndrome 16; JBTS16|TMEM138 Joubert syndrome|Joubert syndrome 16 MONDO:0011102 autosomal dominant nonsyndromic deafness 12 biolink:Disease mondo UMLS:C1832187|OMIM:601543|MESH:C563295|DOID:0110544|ICD10:H90.3 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. DOID:0110544|MESH:C563295|http://identifiers.org/omim/601543|UMLS:C1832187 http://purl.obolibrary.org/obo/MONDO_0011102 autosomal dominant deafness 8|TECTA autosomal dominant nonsyndromic deafness|tecta autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 12; DFNA12|deafness, autosomal dominant 12|DFNA8|deafness, autosomal dominant type 12|DFNA12|autosomal dominant deafness 12|autosomal dominant nonsyndromic deafness type 12|autosomal dominant nonsyndromic deafness caused by mutation in TECTA|autosomal dominant nonsyndromic deafness caused by mutation in tecta|deafness, autosomal dominant 8 MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency biolink:Disease mondo UMLS:C3280866|OMIM:614458|Orphanet:293955 ORPHA:293955|UMLS:C3280866|http://identifiers.org/omim/614458 http://purl.obolibrary.org/obo/MONDO_0013761 encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency|thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type); THMD5|thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)|THMD5 ordo_disease MONDO:0013762 lipoic acid synthetase deficiency biolink:Disease mondo UMLS:C3280887|OMIM:614462|ICD10:E88.8|Orphanet:401859|GARD:0012678 Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person. UMLS:C3280887|http://identifiers.org/omim/614462|ORPHA:401859 http://purl.obolibrary.org/obo/MONDO_0013762 pyruvate dehydrogenase lipoic acid synthetase deficiency|hyperglycinemia, lactic acidosis, and seizures|hyperglycinemia, lactic acidosis, and seizures; HGCLAS|HGCLAS|PDHLD|pyruvate dehydrogenase lipoic acid synthetase deficiency; PDHLD ordo_disease|gard_rare MONDO:0011101 peroxisome biogenesis disorder 1B biolink:Disease mondo UMLS:CN168921|OMIM:601539 UMLS:CN168921|http://identifiers.org/omim/601539 http://purl.obolibrary.org/obo/MONDO_0011101 adrenoleukodystrophy, autosomal neonatal|PBD1B|peroxisome biogenesis disorder 1B|peroxisome biogenesis disorder type 1B|infantile phytanic acid storage disease|peroxisome biogenesis disorder 1B; PBD1B|Refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)|peroxisome biogenesis disorder (NALD/Ird) MONDO:0011104 cataract 3 multiple types biolink:Disease mondo ICD10:Q12.0|OMIM:601547|UMLS:C1832175|DOID:0110269|MESH:C563294 Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene. UMLS:C1832175|DOID:0110269|MESH:C563294|http://identifiers.org/omim/601547 http://purl.obolibrary.org/obo/MONDO_0011104 cataract 3, multiple types, with or without microcornea|congenital cerulean type cataract 2|CCA2|cataract (disease) caused by mutation in CRYBB2|cataract 3, multiple types|cataract, congenital, cerulean type, 2|CRYBB2 cataract (disease)|cataract 3 multiple types with or without microcornea|CTRCT3|cataract 3, multiple types; CTRCT3 MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 biolink:Disease mondo ICD10:D72.8|DOID:0110117|SCTID:723508002|OMIM:614470|UMLS:C2674723|Orphanet:268114 RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. ORPHA:268114|DOID:0110117|UMLS:C2674723|SNOMEDCT:723508002|http://identifiers.org/omim/614470 http://purl.obolibrary.org/obo/MONDO_0013767 autoimmune lymphoproliferative syndrome type 4|ALPS4|RAS-associated autoimmune leukoproliferative disorder|autoimmune lymphoproliferative syndrome, type 4|NRAS autoimmune lymphoproliferative syndrome|ALPS type IV|ALPS type 4|RALD|autoimmune lymphoproliferative syndrome type IV|RAS-associated autoimmune leukoproliferative disease|autoimmune lymphoproliferative syndrome caused by mutation in NRAS|RAS-associated autoimmune leukoproliferative disorder; RALD ordo_disease MONDO:0011103 autosomal dominant nonsyndromic deafness 3A biolink:Disease mondo OMIM:601544|MESH:C567277|GARD:0009933|DOID:0110564|UMLS:C2675750|ICD10:H90.3 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene. MESH:C567277|UMLS:C2675750|DOID:0110564|http://identifiers.org/omim/601544 http://purl.obolibrary.org/obo/MONDO_0011103 NSRD1|autosomal dominant nonsyndromic deafness type 3A|autosomal dominant nonsyndromic deafness caused by mutation in GJB2|deafness, autosomal dominant 3A|deafness, autosomal dominant type 3A|deafness, autosomal dominant nonsyndromic sensorineural 3|deafness, autosomal dominant 3A; DFNA3A|GJB2 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 3A|neurosensory nonsyndromic dominant deafness 1|DFNA3|DFNA3A MONDO:0013768 arterial calcification, generalized, of infancy, 2 biolink:Disease mondo UMLS:C3276161|OMIM:614473 Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene. UMLS:C3276161|http://identifiers.org/omim/614473 http://purl.obolibrary.org/obo/MONDO_0013768 GACI2|arterial calcification, generalized, of infancy, 2; GACI2|ABCC6 arterial calcification of infancy|arterial calcification, generalized, of infancy, type 2|arterial calcification of infancy caused by mutation in ABCC6|arterial calcification, generalized, of infancy, 2 MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome biolink:Disease mondo Orphanet:412022|OMIM:601552|UMLS:C1832167|ICD10:Q87.0|MESH:C563293 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. http://identifiers.org/omim/601552|ORPHA:412022|UMLS:C1832167|MESH:C563293 http://purl.obolibrary.org/obo/MONDO_0011106 Traboulsi syndrome|FDLAB|ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome|facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs|facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs; FDLAB|FDLAB syndrome ordo_malformation_syndrome MONDO:0013765 coronary heart disease, susceptibility to, 6 biolink:Disease mondo OMIM:614466 Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene. http://identifiers.org/omim/614466 http://purl.obolibrary.org/obo/MONDO_0013765 MMP3 coronary artery disease|coronary heart disease, susceptibility to, type 6|coronary heart disease, susceptibility to, 6; CHDS6|coronary artery disease caused by mutation in MMP3|CHDS6|susceptibility to coronary heart disease 6|coronary heart disease, susceptibility to, 6 predisposition MONDO:0011105 alacrima, congenital, autosomal recessive biolink:Disease mondo UMLS:C4012597|OMIM:601549 http://identifiers.org/omim/601549|UMLS:C4012597 http://purl.obolibrary.org/obo/MONDO_0011105 alacrima, congenital, autosomal recessive MONDO:0013766 familial cold autoinflammatory syndrome 3 biolink:Disease mondo Orphanet:300359|UMLS:C3280914|DOID:0090064|ICD10:L50.2|OMIM:614468 PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. DOID:0090064|ORPHA:300359|UMLS:C3280914|http://identifiers.org/omim/614468 http://purl.obolibrary.org/obo/MONDO_0013766 familial cold autoinflammatory syndrome type 3|FACU|antibody deficiency and immune dysregulation, PLCG2-associated|FCAS3|plaid|familial cold autoinflammatory syndrome 3; FCAS3|familial cold urticaria with common variable immunodeficiency|PLCG2 familial cold autoinflammatory syndrome|familial atypical cold urticaria|familial cold autoinflammatory syndrome caused by mutation in PLCG2|familial cold autoinflammatory syndrome 3|PLCG2-associated antibody deficiency and immune dysregulation ordo_disease MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome biolink:Disease mondo Orphanet:352333|UMLS:C3280856|OMIM:614457|ICD10:Q80.8 UMLS:C3280856|ORPHA:352333|http://identifiers.org/omim/614457 http://purl.obolibrary.org/obo/MONDO_0013760 ichthyosis, spastic quadriplegia, and intellectual disability; ISQMR|ichthyosis, spastic quadriplegia, and mental retardation; ISQMR|congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome|ichthyosis, spastic quadriplegia, and intellectual disability|ISQMR|ichthyosis, spastic quadriplegia, and mental retardation ordo_disease NCBITaxon:37104 Trichomonadida organism taxon mondo GC_ID:1|PMID:20093080 http://purl.obolibrary.org/obo/NCBITaxon_37104 trichomonads|trichomonads CHEBI:30768 propionic acid biolink:ChemicalSubstance mondo A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group. http://purl.obolibrary.org/obo/CHEBI_30768 propioic acid|ethanecarboxylic acid|propanoic acid|metacetonic acid|propoic acid|Propionsaeure|acide propionique|CH3-CH2-COOH|Propanoic acid|PROPANOIC ACID|pseudoacetic acid|Propionic acid|ethylformic acid|methylacetic acid|propionic acid|PA|carboxyethane|acide propanoique NCBITaxon:5864 Babesia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5864 NCBITaxon:5863 Piroplasmida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5863 Piroplasmids CL:0000646 basal cell biolink:Cell mondo BTO:0000939|FMA:62516 Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament. http://purl.obolibrary.org/obo/CL_0000646 GO:1904315 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential biolink:OntologyClass mondo Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. http://purl.obolibrary.org/obo/GO_1904315 ionotropic neurotransmitter receptor activity involved in regulation of post-synaptic membrane potential|ionotropic neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential UBERON:0010543 acropodial skeleton biolink:AnatomicalEntity mondo The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. http://purl.obolibrary.org/obo/UBERON_0010543 phalangeal skeleton|acropodial skeleton|set of phalanges|skeletal parts of acropodium|skeleton of digits|acropodium|skeletal parts of acropodial region|digits skeleton|acropodium skeleton|digital skeleton UBERON:0010540 tarsus pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that has the potential to develop into a tarsal bone. http://purl.obolibrary.org/obo/UBERON_0010540 UBERON:0010541 tarsus cartilage element biolink:AnatomicalEntity mondo A cartilaginous condensation that has the potential to develop into a tarsal bone. http://purl.obolibrary.org/obo/UBERON_0010541 UBERON:0010535 primitive metanephric nephron biolink:AnatomicalEntity mondo A primitive nephron that is part of a metanephros. http://purl.obolibrary.org/obo/UBERON_0010535 primitive metanephric nephron|developing metanephric nephron|primitive nephron NCBITaxon:171549 Bacteroidales organism taxon mondo PMID:28905708|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_171549 UBERON:0010536 nephron progenitor biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010536 UBERON:0009559 metacarpal/tarsal-phalangeal joint biolink:AnatomicalEntity mondo A skeletal joint that connects a mesopodium bone and connects a proximal phalanx. http://purl.obolibrary.org/obo/UBERON_0009559 metapodium-phalanx joint|metacarpo-tarsophalangeal joint|fetlock|metapodial-phalangeal joint UBERON:0010533 metanephros cortex biolink:AnatomicalEntity mondo The metanephric cortex is the outer region of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0010533 UBERON:0010534 primitive mesonephric nephron biolink:AnatomicalEntity mondo Anatomical cluster which give rise to mature mesonephric nephrons. Zebrafish continously generate new mesonephric nephrons. http://purl.obolibrary.org/obo/UBERON_0010534 primitive mesonephric nephron|developing mesonephric nephron UBERON:0010537 mesonephric nephron progenitor biolink:AnatomicalEntity mondo Cluster of cells comprising a portion of tissue which gives rise to new mesonephric nephrons. The cluster contains self-renewing stem cells. http://purl.obolibrary.org/obo/UBERON_0010537 UBERON:0010538 paired limb/fin segment biolink:AnatomicalEntity mondo An appendage segment that is part of a limb/fin. http://purl.obolibrary.org/obo/UBERON_0010538 limb/fin segment CHEBI:30762 salicylate biolink:ChemicalSubstance mondo A monohydroxybenzoate that is the conjugate base of salicylic acid. http://purl.obolibrary.org/obo/CHEBI_30762 2-hydroxybenzoic acid ion(1-)|o-hydroxybenzoate|sal|2-hydroxybenzoate|salicylate|Salicylate UBERON:0009550 endoderm of foregut-midgut junction biolink:AnatomicalEntity mondo An endoderm that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/UBERON_0009550 UBERON:0009551 distal segment of digit biolink:AnatomicalEntity mondo A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). http://purl.obolibrary.org/obo/UBERON_0009551 distal digit segment|tip of digit|digit tip UBERON:0009552 distal segment of manual digit biolink:AnatomicalEntity mondo A segment of the manual digit containing the distal phalanx http://purl.obolibrary.org/obo/UBERON_0009552 finger tip|fingertip|finger digit tip|tip of finger|finger distal segment|forelimb digit tip UBERON:0009553 distal segment of pedal digit biolink:AnatomicalEntity mondo A segment of the pedal digit containing the distal phalanx. Note this class represents a digit segment and thus includes tissues in addition to bone. http://purl.obolibrary.org/obo/UBERON_0009553 P3 segment of pedal digit|toe digit tip|hindlimb digit tip|distalmost part of toe|toe distal segment|tip of toe CHEBI:17781 lumichrome biolink:ChemicalSubstance mondo A compound showing blue fluorescence, formed by a photolysis of riboflavin in acid or neutral solution. http://purl.obolibrary.org/obo/CHEBI_17781 7,8-Dimethylalloxazine|LUMICHROME|Lumichrome|lumichrome|7,8-dimethylbenzo[g]pteridine-2,4(1H,3H)-dione GO:0003842 1-pyrroline-5-carboxylate dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+). http://purl.obolibrary.org/obo/GO_0003842 1-pyrroline dehydrogenase|L-pyrroline-5-carboxylate-NAD+ oxidoreductase activity|delta1-pyrroline-5-carboxylate dehydrogenase activity|pyrroline-5-carboxylate dehydrogenase activity|pyrroline-5-carboxylic acid dehydrogenase activity|1-pyrroline-5-carboxylate:NAD+ oxidoreductase activity GO:0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity biolink:OntologyClass mondo Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+). http://purl.obolibrary.org/obo/GO_0003845 corticosteroid 11-reductase|11beta-hydroxysteroid dehydrogenase|dehydrogenase, 11beta-hydroxy steroid|beta-hydroxysteroid dehydrogenase|11beta-hydroxy steroid dehydrogenase|corticosteroid 11beta-dehydrogenase NCBITaxon:5878 Ciliophora organism taxon mondo GC_ID:6 http://purl.obolibrary.org/obo/NCBITaxon_5878 ciliates|ciliates|Ciliata NCBITaxon:5873 Theileria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5873 NCBITaxon:37162 Mycobacterium avium complex sp. organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_37162 Mycobacterium avium complex bacterium CL:0000656 primary spermatocyte biolink:Cell mondo CALOHA:TS-2194|BTO:0001115|FMA:72292 A diploid cell that has derived from a spermatogonium and can subsequently begin meiosis and divide into two haploid secondary spermatocytes. http://purl.obolibrary.org/obo/CL_0000656 HGNC:7849 NME1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7849 CL:0000657 secondary spermatocyte biolink:Cell mondo CALOHA:TS-2195|BTO:0000709|FMA:72293|FBbt:00004941 One of the two haploid cells into which a primary spermatocyte divides, and which in turn gives origin to spermatids. http://purl.obolibrary.org/obo/CL_0000657 UBERON:0010531 metanephros induced blastemal cells biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0010531 peripheral blastema|cap mesenchyme of metanephros of urinary system|induced blastemal cells|nephrogenic interstitium|nephrogenic interstitium of nephrogenic zone UBERON:0010532 primitive nephron biolink:AnatomicalEntity mondo An epithelial tube that is fated to become a nephron. http://purl.obolibrary.org/obo/UBERON_0010532 presumptive nephron|primitive nephron|developing nephron|future nephron GO:0062125 regulation of mitochondrial gene expression biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of mitochondrial gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). http://purl.obolibrary.org/obo/GO_0062125 UBERON:0009548 hepatic sinusoid of left of lobe of liver biolink:AnatomicalEntity mondo A hepatic sinusoid that is part of a left lobe of liver. http://purl.obolibrary.org/obo/UBERON_0009548 left lobe hepatic sinusoids UBERON:0010522 replacement element biolink:AnatomicalEntity mondo Skeletal element that forms as a replacement or substitution of another element or tissue. http://purl.obolibrary.org/obo/UBERON_0010522 UBERON:0009549 hepatic sinusoid of right of lobe of liver biolink:AnatomicalEntity mondo A hepatic sinusoid that is part of a right lobe of liver. http://purl.obolibrary.org/obo/UBERON_0009549 right lobe hepatic sinusoids UBERON:0010523 microcirculatory vessel biolink:AnatomicalEntity mondo A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessels UBERON:0010528 pneumatic cavity of bone biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0010528 air space of bone HGNC:7856 NQO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7856 UBERON:0010527 cavity of bone organ biolink:AnatomicalEntity mondo An organ cavity that surrounded_by a bone. http://purl.obolibrary.org/obo/UBERON_0010527 bone organ cavity GO:0003810 protein-glutamine gamma-glutamyltransferase activity biolink:OntologyClass mondo Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links. http://purl.obolibrary.org/obo/GO_0003810 polyamine transglutaminase activity|factor XIIIa|protein-glutamine:amine gamma-glutamyltransferase|R-glutaminyl-peptide:amine gamma-glutamyl transferase activity|transglutaminase activity|tissue transglutaminase|fibrin stabilizing factor|glutaminylpeptide gamma-glutamyltransferase activity|TGase activity|fibrinoligase activity CHEBI:30746 benzoic acid biolink:ChemicalSubstance mondo A compound comprising a benzene ring core carrying a carboxylic acid substituent. http://purl.obolibrary.org/obo/CHEBI_30746 Benzenecarboxylic acid|E210|Phenylformic acid|Benzenemethanoic acid|Benzoic acid|BENZOIC ACID|benzoic acid|Benzoesaeure|Phenylcarboxylic acid|Aromatic carboxylic acid|Benzeneformic acid|Dracylic acid|acide benzoique CHEBI:30742 ethylene glycol biolink:ChemicalSubstance mondo A 1,2-glycol compound produced via reaction of ethylene oxide with water. http://purl.obolibrary.org/obo/CHEBI_30742 Glycol|ethane-1,2-diol|Monoethylene glycol|1,2-ETHANEDIOL|1,2-Ethanediol|1,2-Dihydroxyethane|Ethylene glycol|ethylene glycol|Ethanediol|HO-CH2-CH2-OH|2-Hydroxyethanol CL:0000622 acinar cell biolink:Cell mondo FMA:83625 A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus). http://purl.obolibrary.org/obo/CL_0000622 acinous cell|acinic cell CL:0000623 natural killer cell biolink:Cell mondo FMA:83601|BTO:0004716|FMA:63147|VHOG:0001697|CALOHA:TS-0664|BTO:0000914 A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. http://purl.obolibrary.org/obo/CL_0000623 large granular lymphocyte|NK cell|null cell HGNC:10727 SEMA3E biolink:OntologyClass mondo http://identifiers.org/hgnc/10727 CL:0000624 CD4-positive, alpha-beta T cell biolink:Cell mondo A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor. http://purl.obolibrary.org/obo/CL_0000624 CD4-positive, alpha-beta T-cell|CD4-positive, alpha-beta T lymphocyte|CD4-positive, alpha-beta T-lymphocyte CL:0000625 CD8-positive, alpha-beta T cell biolink:Cell mondo A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor. http://purl.obolibrary.org/obo/CL_0000625 CD8-positive, alpha-beta T-cell|CD8-positive, alpha-beta T lymphocyte|CD8-positive, alpha-beta T-lymphocyte HGNC:10729 SEMA4A biolink:OntologyClass mondo http://identifiers.org/hgnc/10729 HGNC:5201 HS6ST1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5201 UBERON:0009536 vascular element of left lung biolink:AnatomicalEntity mondo A vascular plexus that is part of a left lung. http://purl.obolibrary.org/obo/UBERON_0009536 HGNC:7863 NNT biolink:OntologyClass mondo http://identifiers.org/hgnc/7863 UBERON:0009537 vascular element of right lung biolink:AnatomicalEntity mondo A vascular plexus that is part of a right lung. http://purl.obolibrary.org/obo/UBERON_0009537 HGNC:7866 NOG biolink:OntologyClass mondo http://identifiers.org/hgnc/7866 HGNC:7865 NODAL biolink:OntologyClass mondo http://identifiers.org/hgnc/7865 UBERON:0009538 mesenchyme of sublingual gland primordium biolink:AnatomicalEntity mondo Mesenchyme that is part of a sublingual gland primordium. http://purl.obolibrary.org/obo/UBERON_0009538 UBERON:0009539 mesenchyme of submandibular gland primordium biolink:AnatomicalEntity mondo Mesenchyme that is part of a submandibular gland primordium. http://purl.obolibrary.org/obo/UBERON_0009539 submaxillary gland primordium mesenchyme HGNC:7869 NOL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7869 HGNC:5208 HSD11B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5208 UBERON:2005260 fenestrated capillary biolink:AnatomicalEntity mondo Capillary that has pores in the endothelial cells (60-80 nm in diameter) that are spanned by a diaphragm of radially oriented fibrils and allow small molecules and limited amounts of protein to diffuse http://purl.obolibrary.org/obo/UBERON_2005260 fenestrated capillary vessel|fenestrated blood vessel endothelium NCBITaxon:5855 Plasmodium vivax organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_5855 malaria parasite P. vivax|Haemamoeba vivax HGNC:5209 HSD11B2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5209 CL:0000637 chromophil cell of anterior pituitary gland biolink:Cell mondo FMA:83089 A cell that stains readily in the anterior pituitary gland. http://purl.obolibrary.org/obo/CL_0000637 GO:0015804 neutral amino acid transport biolink:OntologyClass mondo The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015804 CL:0000638 acidophil cell of pars distalis of adenohypophysis biolink:Cell mondo FMA:83093 An acidophilic chromophil cell that of the anterior pituitary gland. http://purl.obolibrary.org/obo/CL_0000638 acidophil cell of pars anterior of adenohypophysis|acidophil of pars anterior of adenohypophysis|acidophil of pars distalis of adenohypophysis|pituitary alpha cell HGNC:5212 HSD17B3 biolink:OntologyClass mondo http://identifiers.org/hgnc/5212 HGNC:5213 HSD17B4 biolink:OntologyClass mondo http://identifiers.org/hgnc/5213 GO:0062149 detection of stimulus involved in sensory perception of pain biolink:OntologyClass mondo The series of events involved in the perception of pain in which a stimulus is received and converted into a molecular signal. http://purl.obolibrary.org/obo/GO_0062149 UBERON:0009526 maxillary process mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a maxillary prominence. http://purl.obolibrary.org/obo/UBERON_0009526 mesenchyme of maxillary process|mesenchyme of maxillary prominence ENVO:2000045 hydrocarbon-based environmental material biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_2000045 HGNC:7876 NOS3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7876 UBERON:0010506 meningeal dura mater biolink:AnatomicalEntity mondo The inner layer of the dura mater surrounding the brain. It is mostly fused with the outer layer, the endocranium that is adherent to the inner aspect of the cranial bones. These two layers form the dura mater. The latter covers and protects the brain and the spinal cord. http://purl.obolibrary.org/obo/UBERON_0010506 inner layer of dura mater|meningeal dura|meningeal layer of dura mater CHEBI:42724 (R)-amphetamine biolink:ChemicalSubstance mondo A 1-phenylpropan-2-amine that has R configuration. http://purl.obolibrary.org/obo/CHEBI_42724 (2R)-1-phenylpropan-2-amine|(R)-amphetamine|levamfetamine|(-)-amphetamine|(-)-phenylisopropylamine|(R)-alpha-methylphenethylamine|levamphetamine|(R)-alpha-methylbenzeneethanamine CL:0000630 supportive cell biolink:Cell mondo BTO:0002315 A cell whose primary function is to support other cell types. http://purl.obolibrary.org/obo/CL_0000630 UBERON:0010507 layer of dura mater biolink:AnatomicalEntity mondo The intracranial dura mater, consisting of two layers: the outer periosteal layer which normally always adheres to the periosteum of the bones of the cranial vault; and the inner meningeal layer which in most places is fused with the outer. The two layers separate to accommodate meningeal vessels and large venous (dural) sinuses. The meningeal layer is also involved in the formation of the various dural folds, such as the falx cerebri and tentorium cerebelli and is comparable to and continuous with the dural mater of the spinal cord. The cranial epidural space is then a potential space between the bone and the combined periosteum/periosteal layer of the dura mater realised only pathologically and is neither continuous with or comparable to the vertebral epidural space http://purl.obolibrary.org/obo/UBERON_0010507 HGNC:5218 HSD3B2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5218 CHEBI:30751 formic acid biolink:ChemicalSubstance mondo The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects. http://purl.obolibrary.org/obo/CHEBI_30751 hydrogen carboxylic acid|Acide formique|formic acid|FORMIC ACID|Formic acid|aminic acid|methoic acid|bilorin|Ameisensaeure|HCOOH|Methanoic acid|formylic acid|HCO2H|H-COOH NCBITaxon:88770 Panarthropoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_88770 CHEBI:17792 organohalogen compound biolink:ChemicalSubstance mondo A compound containing at least one carbon-halogen bond (where X is a halogen atom). http://purl.obolibrary.org/obo/CHEBI_17792 organic halide|organic halides|RX|organohalogen compounds HGNC:7871 NONO biolink:OntologyClass mondo http://identifiers.org/hgnc/7871 GO:0003824 catalytic activity biolink:OntologyClass mondo Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. http://purl.obolibrary.org/obo/GO_0003824 enzyme activity UBERON:0009521 anal membrane endodermal component biolink:AnatomicalEntity mondo An endoderm that is part of a anal region. http://purl.obolibrary.org/obo/UBERON_0009521 CHEBI:17790 methanol biolink:ChemicalSubstance mondo The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group. http://purl.obolibrary.org/obo/CHEBI_17790 methanol|METHANOL|Methanol|wood alcohol|Methylalkohol|CH3OH|spirit of wood|wood spirit|MeOH|carbinol|wood naphtha|Methyl alcohol UBERON:0009522 lateral lingual swelling epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a lateral lingual swelling. http://purl.obolibrary.org/obo/UBERON_0009522 HGNC:7873 NOS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7873 UBERON:0009523 mesenchyme of handplate biolink:AnatomicalEntity mondo Mesenchyme that is part of a handplate. http://purl.obolibrary.org/obo/UBERON_0009523 hand plate mesenchyme|handplate mesenchyme MONDO:0001723 progressive peripheral pterygium biolink:Disease mondo DOID:13474|SCTID:193881001|ICD9:372.42|COHD:377291|UMLS:C0155155 SNOMEDCT:193881001|DOID:13474|UMLS:C0155155 http://purl.obolibrary.org/obo/MONDO_0001723 MONDO:0001722 central pterygium biolink:Disease mondo ICD9:372.43|DOID:13473|SCTID:43300008|COHD:376411|UMLS:C0155156 SNOMEDCT:43300008|UMLS:C0155156|DOID:13473 http://purl.obolibrary.org/obo/MONDO_0001722 MONDO:0001721 urethral intrinsic sphincter deficiency biolink:Disease mondo ICD9:599.82|UMLS:C0375381|ICD10:N36.42|DOID:13461 UMLS:C0375381|DOID:13461 http://purl.obolibrary.org/obo/MONDO_0001721 intrinsic (urethral) sphincter deficiency [ISD] MONDO:0001720 gonococcal synovitis biolink:Disease mondo SCTID:266138002|DOID:13454|UMLS:C0343714|UMLS:C0275662|ICD9:098.51 An synovitis (disease) caused by infection with Neisseria gonorrhoeae. UMLS:C0275662|UMLS:C0343714|SNOMEDCT:266138002|DOID:13454 http://purl.obolibrary.org/obo/MONDO_0001720 gonococcal synovitis and tenosynovitis|gonococcal synovitis or tenosynovitis|gonococcal synovitis &/or tenosynovitis MONDO:0013705 MRT19 biolink:Disease mondo OMIM:614343|UMLS:C3280541 UMLS:C3280541|http://identifiers.org/omim/614343 http://purl.obolibrary.org/obo/MONDO_0013705 mental retardation, autosomal recessive 19|intellectual disability, autosomal recessive 19; MRT19|mental retardation, autosomal recessive 19; MRT19|MRT19|intellectual disability, autosomal recessive 19 MONDO:0013706 MRT23 biolink:Disease mondo OMIM:614344|UMLS:C3280542 UMLS:C3280542|http://identifiers.org/omim/614344 http://purl.obolibrary.org/obo/MONDO_0013706 MRT23|mental retardation, autosomal recessive 23|intellectual disability, autosomal recessive 23|intellectual disability, autosomal recessive 23; MRT23|mental retardation, autosomal recessive 23; MRT23 MONDO:0013703 MRT33 biolink:Disease mondo OMIM:614341|UMLS:C3280539 UMLS:C3280539|http://identifiers.org/omim/614341 http://purl.obolibrary.org/obo/MONDO_0013703 intellectual disability, autosomal recessive 33|intellectual disability, autosomal recessive 33; MRT33|mental retardation, autosomal recessive 33|MRT33|mental retardation, autosomal recessive 33; MRT33 UBERON:0010580 pedal digit 1 phalanx pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that is part of a pedal digit 1 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010580 pedal digit I phalanx pre-cartilage condensation|foot digit 1 phalanx pre-cartilage condensation|hind limb digit 1 phalanx pre-cartilage condensation HGNC:10702 SEC23B biolink:OntologyClass mondo http://identifiers.org/hgnc/10702 MONDO:0013704 MRT30 biolink:Disease mondo OMIM:614342|UMLS:C3280540 UMLS:C3280540|http://identifiers.org/omim/614342 http://purl.obolibrary.org/obo/MONDO_0013704 intellectual disability, autosomal recessive 30; MRT30|intellectual disability, autosomal recessive 30|MRT30|mental retardation, autosomal recessive 30; MRT30|mental retardation, autosomal recessive 30 MONDO:0013709 MRT28 biolink:Disease mondo OMIM:614347|UMLS:C3280545 UMLS:C3280545|http://identifiers.org/omim/614347 http://purl.obolibrary.org/obo/MONDO_0013709 mental retardation, autosomal recessive 28|intellectual disability, autosomal recessive 28|mental retardation, autosomal recessive 28; MRT28|intellectual disability, autosomal recessive 28; MRT28|MRT28 UBERON:0010586 manual digit phalanx pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that is part of a manual digit mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010586 forelimb phalanx pre-cartilage condensation|hand phalanx pre-cartilage condensation|fore limb digit phalanx pre-cartilage condensation|hand digit phalanx pre-cartilage condensation|manus phalanx pre-cartilage condensation MONDO:0013707 MRT24 biolink:Disease mondo OMIM:614345|UMLS:C3280543 UMLS:C3280543|http://identifiers.org/omim/614345 http://purl.obolibrary.org/obo/MONDO_0013707 MRT24|mental retardation, autosomal recessive 24|intellectual disability, autosomal recessive 24|mental retardation, autosomal recessive 24; MRT24|intellectual disability, autosomal recessive 24; MRT24 UBERON:0010584 pedal digit 5 phalanx pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that is part of a pedal digit 5 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010584 foot digit 5 phalanx pre-cartilage condensation|hind limb digit 5 phalanx pre-cartilage condensation|pedal digit V phalanx pre-cartilage condensation HGNC:10706 SEC24D biolink:OntologyClass mondo http://identifiers.org/hgnc/10706 MONDO:0013708 MRT25 biolink:Disease mondo OMIM:614346|UMLS:C3280544 UMLS:C3280544|http://identifiers.org/omim/614346 http://purl.obolibrary.org/obo/MONDO_0013708 MRT25|mental retardation, autosomal recessive 25|intellectual disability, autosomal recessive 25|mental retardation, autosomal recessive 25; MRT25|intellectual disability, autosomal recessive 25; MRT25 UBERON:0010585 pedal digit phalanx pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that is part of a pedal digit mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010585 foot phalanx pre-cartilage condensation|pes phalanx pre-cartilage condensation|foot digit phalanx pre-cartilage condensation|hind limb digit phalanx pre-cartilage condensation|hindlimb phalanx pre-cartilage condensation UBERON:0010579 manual digit 5 phalanx pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that is part of a manual digit 5 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010579 fore limb digit 5 phalanx pre-cartilage condensation|manual digit V phalanx pre-cartilage condensation|hand digit 5 phalanx pre-cartilage condensation GO:1904364 positive regulation of calcitonin secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of calcitonin secretion. http://purl.obolibrary.org/obo/GO_1904364 up regulation of calcitonin secretion|up-regulation of calcitonin secretion|activation of calcitonin secretion|upregulation of calcitonin secretion GO:1904363 negative regulation of calcitonin secretion biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of calcitonin secretion. http://purl.obolibrary.org/obo/GO_1904363 downregulation of calcitonin secretion|down regulation of calcitonin secretion|inhibition of calcitonin secretion|down-regulation of calcitonin secretion GO:1904362 regulation of calcitonin secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of calcitonin secretion. http://purl.obolibrary.org/obo/GO_1904362 MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 biolink:Disease mondo OMIM:614370|UMLS:C3280574 Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene. UMLS:C3280574|http://identifiers.org/omim/614370 http://purl.obolibrary.org/obo/MONDO_0013712 surfactant metabolism dysfunction, pulmonary, type 5|Pap due to Csf2Rb deficiency|surfactant metabolism dysfunction, pulmonary, 5|surfactant metabolism dysfunction, pulmonary, 5; SMDP5|hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB|CSF2RB hereditary pulmonary alveolar proteinosis|Csf2Rb deficiency|pulmonary alveolar proteinosis 5|SMDP5 HGNC:5227 HSF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/5227 MONDO:0013713 dengue virus, susceptibility to biolink:Disease mondo OMIM:614371 http://identifiers.org/omim/614371 http://purl.obolibrary.org/obo/MONDO_0013713 dengue virus, susceptibility to|Dengue shock syndrome, susceptibility to|susceptibility to dengue virus|Dengue hemorrhagic fever, susceptibility to|Dengue fever, susceptibility to|Dengue fever, protection against predisposition HGNC:5228 DNAJB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/5228 MONDO:0013710 colorectal cancer, hereditary nonpolyposis, type 5 biolink:Disease mondo DOID:0070272|OMIM:614350|MESH:C563456|UMLS:C1833477 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene. DOID:0070272|http://identifiers.org/omim/614350|UMLS:C1833477|MESH:C563456 http://purl.obolibrary.org/obo/MONDO_0013710 colorectal cancer, hereditary nonpolyposis, type 5; HNPCC5|HNPCC5|colorectal cancer, hereditary nonpolyposis, type 5|hereditary nonpolyposis colon cancer caused by mutation in MSH6|MSH6 hereditary nonpolyposis colon cancer MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome biolink:Disease mondo UMLS:C3280556|OMIM:614369|ICD10:G60.0|Orphanet:397744 ORPHA:397744|UMLS:C3280556|http://identifiers.org/omim/614369 http://purl.obolibrary.org/obo/MONDO_0013711 PNMHH|peripheral neuropathy, myopathy, hoarseness, and hearing loss|peripheral neuropathy, myopathy, hoarseness, and hearing loss; PNMHH|peripheral neuropathy-myopathy-hoarseness-deafness syndrome ordo_disease MONDO:0001716 corneal argyrosis biolink:Disease mondo SCTID:21328003|UMLS:C0155108|DOID:13447|ICD9:371.16|ICD10:H18.02 DOID:13447|UMLS:C0155108|SNOMEDCT:21328003 http://purl.obolibrary.org/obo/MONDO_0001716 argyrosis of cornea|argentous corneal deposits MONDO:0001715 basilar artery occlusion biolink:Disease mondo ICD9:433.0|ICD10:I65.1|DOID:13446|SCTID:195180004|ICD9:433.01|ICD9:433.00|COHD:437308 DOID:13446|SNOMEDCT:195180004 http://purl.obolibrary.org/obo/MONDO_0001715 MONDO:0001714 bejel biolink:Disease mondo DOID:13431|GARD:0005905|UMLS:C0004945 A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum. DOID:13431|UMLS:C0004945 http://purl.obolibrary.org/obo/MONDO_0001714 endemic syphilis|Treponema pallidum subsp. endemicum disease or disorder|Dichuchwa|nonvenereal syphilis|Njovera|Treponema pallidum subsp. endemicum infectious disease|Treponema pallidum subsp. endemicum caused disease or disorder|Frenga|nonvenereal endemic syphilis gard_rare MONDO:0001713 inherited aplastic anemia biolink:Disease mondo UMLS:C0949116|GARD:0006149|SCTID:28975000|ICD9:284.0|ICD10:D61.0|MESH:D029502|Orphanet:68383|UMLS:C0702159|ICD10:D61.01|ICD9:284.09|DOID:1342 An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. DOID:1342|UMLS:C0702159|MESH:D029502|UMLS:C0949116|ORPHA:68383|SNOMEDCT:28975000 http://purl.obolibrary.org/obo/MONDO_0001713 congenital aplastic anemia|congenital hypoplastic anemia|hereditary aplastic anemia|constitutional aplastic anaemia|constitutional aplastic anemia|hypoplastic anemia - familial|rare constitutional aplastic anemia ordo_group_of_disorders HGNC:7882 NOTCH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/7882 HGNC:7881 NOTCH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7881 MONDO:0001719 gonococcal bursitis biolink:Disease mondo SCTID:46699001|ICD10:A54.49|UMLS:C0153218|DOID:13453|ICD10:M73.0|ICD9:098.52 An bursitis caused by infection with Neisseria gonorrhoeae. DOID:13453|SNOMEDCT:46699001|UMLS:C0153218 http://purl.obolibrary.org/obo/MONDO_0001719 Neisseria gonorrhoeae caused bursitis|Neisseria gonorrhoeae bursitis MONDO:0001718 scleritis (disease) biolink:Disease mondo ICD9:379.00|COHD:434944|MESH:D015423|HP:0100532|ICD10:H15.00|SCTID:78370002|NCIT:C119046|DOID:13452|GARD:0012911|ICD10:H15.0|UMLS:C0036416 Inflammation of the sclera. DOID:13452|UMLS:C0036416|NCIT:C119046|MESH:D015423|SNOMEDCT:78370002 http://purl.obolibrary.org/obo/MONDO_0001718 scleritis MONDO:0001717 posterior corneal pigmentation biolink:Disease mondo DOID:13448|UMLS:C0155106|SCTID:267639001|ICD10:H18.05|ICD9:371.13 SNOMEDCT:267639001|UMLS:C0155106|DOID:13448 http://purl.obolibrary.org/obo/MONDO_0001717 posterior corneal pigmentations HGNC:7883 NOTCH3 biolink:OntologyClass mondo http://identifiers.org/hgnc/7883 MONDO:0001730 urethral syndrome biolink:Disease mondo ICD10:N34.3|ICD9:597.81|DOID:13498|SCTID:31273004|COHD:196733|UMLS:C0156279 UMLS:C0156279|DOID:13498|SNOMEDCT:31273004 http://purl.obolibrary.org/obo/MONDO_0001730 MONDO:0001734 tuberous sclerosis biolink:Disease mondo ICD9:759.5|OMIMPS:191100|NCIT:C3424|SCTID:7199000|MESH:D014402|ICD10:Q85.1|DOID:13515 Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. SNOMEDCT:7199000|NCIT:C3424|MESH:D014402|DOID:13515 http://purl.obolibrary.org/obo/MONDO_0001734 TSC|Bourneville pringle disease|tuberous sclerosis Complex|tuberose sclerosis|Bourneville-pringle's disease|adenoma sebaceum syndrome|Bourneville's syndrome|Phacomatosis, Bourneville|adenoma sebaceum|Bourneville-Pringles disease|Bourneville pringle's disease|ts - tuberous sclerosis|bourneville's disease|Bourneville phakomatosis|Bourneville syndrome|tuberous sclerosis|tuberous sclerosis syndrome|sclerosis, tuberose|Bourneville disease|disease, Bourneville-pringle|syndrome, Bourneville|phakomatosis, Bourneville|cerebral sclerosis|Epiloia|sclerosis, cerebral|cerebral Scleroses|sclerosis, tuberous|Bourneville-pringle disease|disease, Bourneville-pringle's|sclerosis Tuberosa|syndrome, Bourneville's|Bourneville's disease|Bourneville Phacomatosis clingen CHEBI:29745 barbiturate biolink:ChemicalSubstance mondo Conjugate base of barbituric acid. http://purl.obolibrary.org/obo/CHEBI_29745 2,4,6-trioxotetrahydro-2H-pyrimidin-1-ide|barbiturate anion MONDO:0001733 occlusion of tributary of retinal vein biolink:Disease mondo ICD9:362.36|DOID:13514 DOID:13514 http://purl.obolibrary.org/obo/MONDO_0001733 venous tributary branch occlusion of retina|venous tributary occlusion of retina|venous tributary (branch) occlusion of retina MONDO:0001732 trigonitis biolink:Disease mondo NCIT:C123175|COHD:441615|UMLS:C1261278|DOID:13507|ICD10:N30.3|ICD9:595.3|SCTID:74445007 Inflammation of the trigone of the urinary bladder. UMLS:C1261278|NCIT:C123175|DOID:13507|SNOMEDCT:74445007 http://purl.obolibrary.org/obo/MONDO_0001732 trigone of urinary bladder inflammation|inflammation of trigone of urinary bladder UBERON:0009580 diencephalon mantle layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009580 mantle layer lateral wall diencephalon|diencephalon lateral wall mantle layer MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm biolink:Disease mondo DOID:135|UMLS:C1511106|NCIT:C40275 A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements. NCIT:C40275|DOID:135|UMLS:C1511106 http://purl.obolibrary.org/obo/MONDO_0001731 benign vaginal carcinosarcoma|benign vaginal mixed epithelial and mesenchymal tumor|benign vaginal mixed epithelial and mesenchymal neoplasm UBERON:0009581 midbrain mantle layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009581 mantle layer lateral wall mesencephalon|midbrain lateral wall mantle layer|mantle layer lateral wall midbrain CL:0000613 basophil progenitor cell biolink:Cell mondo A progenitor cell committed to the basophil lineage. This cell lacks hematopoietic lineage markers (lin-negative) and is CD34-positive, T1/ST2-low, CD117-negative, and FceRIa-high. This cell also expresses Gata-1, Gata-2 and C/EBPa. http://purl.obolibrary.org/obo/CL_0000613 BaP|colony forming unit basophil|CFU-Bas|basophilic stem cell UBERON:0010570 manual digit 1 metacarpus cartilage element biolink:AnatomicalEntity mondo A manual digit metacarpus cartilage element that is part of a manual digit 1 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010570 metacarpus 1 cartilage element|fore limb digit 1 metacarpus cartilage element|hand digit 1 metacarpus cartilage element|finger 1 metacarpus cartilage element|manual digit I metacarpus cartilage element UBERON:0010575 manual digit 1 phalanx pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that is part of a manual digit 1 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010575 manual digit I phalanx pre-cartilage condensation|fore limb digit 1 phalanx pre-cartilage condensation|hand digit 1 phalanx pre-cartilage condensation UBERON:0010574 manual digit 5 metacarpus cartilage element biolink:AnatomicalEntity mondo A manual digit metacarpus cartilage element that is part of a manual digit 5 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010574 finger 5 metacarpus cartilage condensation|fore limb digit 5 metacarpus cartilage element|manual digit V metacarpus cartilage element|metacarpus 5 cartilage element|hand digit 5 metacarpus cartilage element HGNC:10718 SELE biolink:OntologyClass mondo http://identifiers.org/hgnc/10718 HGNC:7897 NPC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7897 UBERON:0010569 manual digit 5 metacarpus pre-cartilage condensation biolink:AnatomicalEntity mondo A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 5 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010569 finger 5 metacarpus pre-cartilage condensation|metacarpal 5 pre-cartilage condensation|manual digit V metacarpus pre-cartilage condensation|fore limb digit 5 metacarpus pre-cartilage condensation|hand digit 5 metacarpus pre-cartilage condensation MONDO:0013701 obsolete MRT32 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0013701 MONDO:0013702 intellectual disability, autosomal recessive 27 biolink:Disease mondo OMIM:614340|UMLS:C3280538 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene. UMLS:C3280538|http://identifiers.org/omim/614340 http://purl.obolibrary.org/obo/MONDO_0013702 intellectual disability, autosomal recessive 27; MRT27|mental retardation, autosomal recessive type 27|mental retardation, autosomal recessive 27|LINS1 autosomal recessive non-syndromic intellectual disability|MRT27|intellectual disability, autosomal recessive type 27|autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1|mental retardation, autosomal recessive 27; MRT27|intellectual disability, autosomal recessive 27 HGNC:10723 SEMA3A biolink:OntologyClass mondo http://identifiers.org/hgnc/10723 MONDO:0013700 pancreatic triacylglycerol lipase deficiency biolink:Disease mondo ICD10:K90.3|SCTID:78960005|NCIT:C129030|Orphanet:309031|OMIM:614338|ICD9:277.89|UMLS:C0268240 An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase. http://identifiers.org/omim/614338|UMLS:C0268240|NCIT:C129030|SNOMEDCT:78960005|ORPHA:309031 http://purl.obolibrary.org/obo/MONDO_0013700 lipase and colipase, deficiency of|lipase, congenital absence of pancreatic|pancreatic lipase deficiency; PNLIPD|pancreatic colipase deficiency|PNLIPD|colipase, congenital absence of pancreatic|PL deficiency|pancreatic triglyceride lipase deficiency|lipase and colipase, congenital absence of pancreatic|pancreatic lipase deficiency ordo_disease HGNC:10721 SELP biolink:OntologyClass mondo http://identifiers.org/hgnc/10721 MONDO:0001727 active cochleovestibular Meniere disease biolink:Disease mondo SCTID:194348002|ICD9:386.01|UMLS:C0155496|DOID:13490 DOID:13490|UMLS:C0155496|SNOMEDCT:194348002 http://purl.obolibrary.org/obo/MONDO_0001727 active cochleovestibular Meniere disease|active cochleovestibular Meniere's disease|active Meniere's disease, cochleovestibular|cochleovestibular active Mnire's disease MONDO:0001726 childhood disintegrative disease biolink:Disease mondo ICD10:F84.3|DOID:13487|SCTID:61831009|ICD9:299.1 A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism. SNOMEDCT:61831009|DOID:13487 http://purl.obolibrary.org/obo/MONDO_0001726 symbiotic psychosis|disintegrative psychosis|heller's syndrome UBERON:0009583 spinal cord mantle layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009583 spinal cord lateral wall mantle layer|mantle layer lateral wall spinal cord MONDO:0001725 balanitis xerotica obliterans biolink:Disease mondo DOID:13477|NCIT:C3523|SCTID:198033005|UMLS:C0152460|ICD9:607.81|COHD:141917 A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis. NCIT:C3523|UMLS:C0152460|SNOMEDCT:198033005|DOID:13477 http://purl.obolibrary.org/obo/MONDO_0001725 lichen Sclerosus of the penis|penile lichen Sclerosus|lichen Sclerosus of penis UBERON:0009584 1st arch mandibular mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a 1st arch mandibular component. http://purl.obolibrary.org/obo/UBERON_0009584 mandibular component mesenchyme|mesenchyme of mandibular component|mesenchymal region of mandibular component of first pharyngeal arch|mandibular mesenchyme MONDO:0001724 supraglottis cancer biolink:Disease mondo ICD10:C32.1|SCTID:187842004|DOID:13476|COHD:4092212|NCIT:C3545|UMLS:C0153484|ICD9:161.1 A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. UMLS:C0153484|NCIT:C3545|SNOMEDCT:187842004|DOID:13476 http://purl.obolibrary.org/obo/MONDO_0001724 cancer of supraglottic part of larynx|supraglottic part of larynx cancer|Ca larynx - supraglottis|malignant neoplasm of supraglottis|malignant supraglottic part of larynx neoplasm|malignant supraglottis neoplasm|malignant supraglottic neoplasm|malignant tumor of supraglottis|malignant supraglottic tumor|malignant neoplasm of supraglottic part of larynx|malignant tumor of the supraglottis|malignant neoplasm of extrinsic larynx|malignant supraglottis tumor|malignant neoplasm of the supraglottis HGNC:7892 PNP biolink:OntologyClass mondo http://identifiers.org/hgnc/7892 MONDO:0001729 active cochlear Meniere disease biolink:Disease mondo UMLS:C0155497|ICD9:386.02|DOID:13492|SCTID:194349005 DOID:13492|SNOMEDCT:194349005|UMLS:C0155497 http://purl.obolibrary.org/obo/MONDO_0001729 cochlear active Mnire's disease|active Meniere's disease, cochlear|active cochlear Meniere's disease|active cochlear Meniere disease MONDO:0001728 active vestibular Meniere disease biolink:Disease mondo ICD9:386.03|UMLS:C0155498|SCTID:194350005|DOID:13491 DOID:13491|UMLS:C0155498|SNOMEDCT:194350005 http://purl.obolibrary.org/obo/MONDO_0001728 active Meniere's disease, vestibular|active vestibular Meniere disease|active vestibular Meniere's disease|vestibular active Mnire's disease MONDO:0001701 gastrointestinal anthrax biolink:Disease mondo SCTID:111798006|ICD10:A22.2|UMLS:C0152945|DOID:13386|ICD9:022.2|MESH:C571911 An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. DOID:13386|UMLS:C0152945|MESH:C571911|SNOMEDCT:111798006 http://purl.obolibrary.org/obo/MONDO_0001701 MONDO:0001700 megaloblastic anemia (disease) biolink:Disease mondo COHD:435789|SCTID:53165003|NCIT:C34382|UMLS:C0002888|DOID:13382|HP:0001889|ICD9:281.3|ICD10:D53.1 Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. DOID:13382|SNOMEDCT:53165003|UMLS:C0002888|NCIT:C34382 http://purl.obolibrary.org/obo/MONDO_0001700 MGA1 Norwegian type|RH-MGA1|megaloblastic anemia|recessive hereditary megaloblastic anemia 1|Imerslund-Grasbeck syndrome|IGS|Grasbeck-Imerslund syndrome UBERON:0009570 spinal cord sulcus limitans biolink:AnatomicalEntity mondo A sulcus limitans of neural tube that is part of a future spinal cord. http://purl.obolibrary.org/obo/UBERON_0009570 spinal cord lateral wall sulcus limitans UBERON:0010561 pedal digit 5 metatarsal cartilage element biolink:AnatomicalEntity mondo A pedal digit metatarsal cartilage element that is part of a pedal digit 5 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010561 pedal digit V metatarsal cartilage element|hind limb digit 5 metatarsal cartilage element|toe 5 metatarsal cartilage element|foot digit 5 metatarsal cartilage element UBERON:0010564 manual digit 1 mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing manual digit 1. http://purl.obolibrary.org/obo/UBERON_0010564 manual digit I mesenchyme|fore limb digit 1 mesenchyme|hand digit 1 mesenchyme UBERON:0010565 manual digit 1 metacarpus pre-cartilage condensation biolink:AnatomicalEntity mondo A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 1 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010565 manual digit I metacarpus pre-cartilage condensation|finger 1 metacarpus pre-cartilage condensation|fore limb digit 1 metacarpus pre-cartilage condensation|hand digit 1 metacarpus pre-cartilage condensation|metacarpal 1 pre-cartilage condensation UBERON:0010562 pedal digit 1 mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing pedal digit 1. http://purl.obolibrary.org/obo/UBERON_0010562 pedal digit I mesenchyme|foot digit 1 mesenchyme|hind limb digit 1 mesenchyme UBERON:0010557 pedal digit 1 metatarsal cartilage element biolink:AnatomicalEntity mondo A pedal digit metatarsal cartilage condensation that is part of a pedal digit 1 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010557 foot digit 1 metatarsal cartilage element|toe 1 metatarsal cartilage condensation|hind limb digit 1 metatarsal cartilage condensation|pedal digit I metatarsal cartilage element HGNC:5246 HSPB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/5246 HGNC:5248 HSPB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/5248 UBERON:0009572 lumen of central canal of spinal cord biolink:AnatomicalEntity mondo A cerebrospinal fluid-filled space that runs longitudinally through the length of the entire spinal cord. The central canal is contiguous with the ventricular system of the brain. The central canal represents the adult remainder of the neural tube. http://purl.obolibrary.org/obo/UBERON_0009572 spinal cord lumen|central canal lumen|cavity of central canal of spinal cord|neural lumen UBERON:0009576 medulla oblongata sulcus limitans biolink:AnatomicalEntity mondo A sulcus limitans of neural tube that is part of a future medulla oblongata. http://purl.obolibrary.org/obo/UBERON_0009576 UBERON:0009577 metencephalon sulcus limitans biolink:AnatomicalEntity mondo A sulcus limitans of neural tube that is part of a future metencephalon. http://purl.obolibrary.org/obo/UBERON_0009577 UBERON:0009578 myelencephalon sulcus limitans biolink:AnatomicalEntity mondo A sulcus limitans of neural tube that is part of a future myelencephalon. http://purl.obolibrary.org/obo/UBERON_0009578 HGNC:5244 HSPA9 biolink:OntologyClass mondo http://identifiers.org/hgnc/5244 MONDO:0001712 alexia biolink:Disease mondo COHD:440084|MESH:D004411|ICD9:315.01|DOID:13417 A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases. MESH:D004411|DOID:13417 http://purl.obolibrary.org/obo/MONDO_0001712 Word Blindnesses, acquired|acquired Word Blindnesses|acquired global dyslexia|acquired reading disability|reading disability, acquired|spelling dyslexia, acquired|acquired reading disabilities|reading disabilities, acquired|dyslexia, acquired spelling|Blindnesses, acquired Word|acquired spelling dyslexia|aphemesthaesia|blindness, acquired Word|disability, acquired reading|acquired alexia|global dyslexia, acquired|acquired Word blindness|acquired dyslexia|alexia, acquired|Word blindness, acquired|dyslexia, acquired global|disabilities, acquired reading MONDO:0001711 hepatic encephalopathy biolink:Disease mondo DOID:13413|COHD:4029488|SCTID:13920009|ICD10:K72|UMLS:C0019151|NCIT:C79596|MESH:D006501|ICD9:572.2|GARD:0010452 Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis. MESH:D006501|SNOMEDCT:13920009|NCIT:C79596|UMLS:C0019151|DOID:13413 http://purl.obolibrary.org/obo/MONDO_0001711 portal-systemic encephalopathy|Hepatoencephalopathy|encephalopathy, hepatic gard_rare MONDO:0001710 perforation of bile duct biolink:Disease mondo ICD10:K83.2|SCTID:37439003|DOID:13409|UMLS:C0156218|COHD:192957|ICD9:576.3 A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes. SNOMEDCT:37439003|NCIT:C78528|DOID:13409|UMLS:C0156218 http://purl.obolibrary.org/obo/MONDO_0001710 UBERON:0010551 pedal digit 5 metatarsal pre-cartilage condensation biolink:AnatomicalEntity mondo A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 5 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010551 toe 5 metatarsal pre-cartilage condensation|hind limb digit 5 metatarsal pre-cartilage condensation|pedal digit V metatarsal pre-cartilage condensation|foot digit 5 metatarsal pre-cartilage condensation UBERON:0009568 trunk region of vertebral column biolink:AnatomicalEntity mondo Subdivision of vertebral column that corresponds to the trunk of the body, containing the trunk/presacral vertebrae. In organisms that have a thoracic and lumbar distinction, this corresponds to the sum of both of these regions. http://purl.obolibrary.org/obo/UBERON_0009568 presacral region|trunk skeleton|trunk vertebral column|thoracolumbar vertebral column|trunk spine|thoracolumbar column|thoracolumbar vertebrae set|thoracolumbar region of vertebral column|trunk region|trunk vertebrae series|thoracolumbar region UBERON:0010546 metapodial skeleton biolink:AnatomicalEntity mondo Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. http://purl.obolibrary.org/obo/UBERON_0010546 metapodium skeleton|metapodium|metacarpal/metatarsal skeleton|metapodial skeleton|skeleton of metapodium|skeletal parts of metapodium UBERON:0010547 pedal digit 1 metatarsal pre-cartilage condensation biolink:AnatomicalEntity mondo A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 1 mesenchyme. http://purl.obolibrary.org/obo/UBERON_0010547 foot digit 1 metatarsal pre-cartilage condensation|pedal digit I metatarsal pre-cartilage condensation|toe 1 metatarsal pre-cartilage condensation|hind limb digit 1 metatarsal pre-cartilage condensation UBERON:0009569 subdivision of trunk biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009569 trunk subdivision|region of trunk UBERON:0010544 metacarpus skeleton biolink:AnatomicalEntity mondo The metacarpus is the intermediate part of the manus skeleton that is located between the phalanges (bones of the fingers) distally and the carpus which forms the connection to the forearm. The metacarpus consists of metacarpal bones. The metacarpals form a transverse arch to which the rigid row of distal carpal bones are fixed. The peripheral metacarpals (those of the thumb and little finger) form the sides of the cup of the palmar gutter and as they are brought together they deepen this concavity. The index metacarpal is the most firmly fixed, while the thumb metacarpal articulates with the trapezium and acts independently from the others. The middle metacarpals are tightly united to the carpus by intrinsic interlocking bone elements at their bases. The ring metacarpal forms a transitional element of the semi-independent last metacarpal. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0010544 ossa metacarpi [I-V]|fore metapodium|fore metapodial skeleton|metacarpalia|metacarpals [I-V]|set of metacarpals|metacarpal bones|metacarpals set|ossa metacarpalia [I-V]|set of metacarpal bones|skeleton of metacarpus|anterior metapodium|set of metacarpals [I-V]|metacarpal skeleton|anterior metapodial skeleton UBERON:0010545 metatarsus skeleton biolink:AnatomicalEntity mondo Limb segment that consists of the long bones of the pes. The metatarsals are analogous to the metacarpal bones of the manus. http://purl.obolibrary.org/obo/UBERON_0010545 set of metatarsals [I-V]|metatarsal bones set|ossa metatarsalia|metatarsal skeleton|ossa metatarsi[I-V]|posterior metapodium|metatarsals [I-V]|ossa metatarsalia [I-V]|posterior metapodial skeleton|set of metatarsal bones|skeleton of metatarsus|metatarsalia HGNC:10701 SEC23A biolink:OntologyClass mondo http://identifiers.org/hgnc/10701 MONDO:0001705 pure red-cell aplasia biolink:Disease mondo ICD9:284.81|GARD:0007504|COHD:140065|DOID:1340|SCTID:50715003|NCIT:C34974|UMLS:C0034902|MESH:D012010 A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. NCIT:C34974|DOID:1340|UMLS:C0034902|SNOMEDCT:50715003|MESH:D012010 http://purl.obolibrary.org/obo/MONDO_0001705 pure red cell aplasia|primary red cell aplasia|PRCA|red cell hypoplasia MONDO:0001704 vaginal glandular neoplasm biolink:Disease mondo NCIT:C40250|UMLS:C1519921|DOID:134 A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma. UMLS:C1519921|NCIT:C40250|DOID:134 http://purl.obolibrary.org/obo/MONDO_0001704 vaginal glandular tumor|vaginal glandular neoplasm|vagina glandular cell neoplasm MONDO:0001703 color vision disorder biolink:Disease mondo NCIT:C3891|UMLS:C0009398|UMLS:C0242225|ICD10:H53.50|ICD10:H53.5|DOID:13399|SCTID:193683001|ICD9:368.5|UMLS:CN207064|ICD9:368.59|Orphanet:98658 The absence of or defect in the perception of colors. UMLS:CN207064|DOID:13399|SNOMEDCT:193683001|UMLS:C0242225|NCIT:C3891|UMLS:C0009398|ORPHA:98658 http://purl.obolibrary.org/obo/MONDO_0001703 color blindness|colour blindness|color-vision disease|color vision defects|colour vision deficiency|color vision deficiency|blindness color ordo_group_of_disorders MONDO:0001702 labia majora carcinoma biolink:Disease mondo UMLS:C1334356|DOID:13389|NCIT:C9363 A carcinoma that arises from the labia majora. DOID:13389|UMLS:C1334356|NCIT:C9363 http://purl.obolibrary.org/obo/MONDO_0001702 carcinoma of the labia majora|carcinoma of labium majora|labia majora cancer|carcinoma of labia majora|labia majora carcinoma|labium majora carcinoma UBERON:0009564 distal limb integumentary appendage biolink:AnatomicalEntity mondo A nail, hoof or claw. http://purl.obolibrary.org/obo/UBERON_0009564 keratin plate|keratin sheath|hoof, claw or nail|unguis|hoof or claw MONDO:0001709 hypercalcemic sarcoidosis biolink:Disease mondo DOID:13407|UMLS:C1334067|NCIT:C35807 Sarcoidosis with a complication of hypercalcemia. NCIT:C35807|DOID:13407|UMLS:C1334067 http://purl.obolibrary.org/obo/MONDO_0001709 MONDO:0001708 pulmonary sarcoidosis biolink:Disease mondo ICD10:D86.0|COHD:4086243|DOID:13406|SCTID:24369008|UMLS:C0036205|NCIT:C34997|ICD9:517.8|MESH:D017565 Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss. UMLS:C0036205|NCIT:C34997|DOID:13406|MESH:D017565|SNOMEDCT:24369008 http://purl.obolibrary.org/obo/MONDO_0001708 lung sarcoidosis|sarcoidosis of lung UBERON:0009565 nail of manual digit biolink:AnatomicalEntity mondo A nail that is part of a manual digit. http://purl.obolibrary.org/obo/UBERON_0009565 manual claw|fingernail|finger nail|claw of hand|forelimb digit claw|nail plate of finger|nail of finger|claw of manus MONDO:0001707 cardiac sarcoidosis biolink:Disease mondo UMLS:C0392077|DOID:13405|NCIT:C35589|SCTID:75403004 Sarcoidosis affecting the tissues of the heart. DOID:13405|UMLS:C0392077|SNOMEDCT:75403004|NCIT:C35589 http://purl.obolibrary.org/obo/MONDO_0001707 heart sarcoidosis|sarcoidosis of heart UBERON:0009566 intestinal submucosa biolink:AnatomicalEntity mondo A submucosa that is part of a intestine. http://purl.obolibrary.org/obo/UBERON_0009566 submucosa of intestine MONDO:0001706 cerebral sarcoidosis biolink:Disease mondo NCIT:C35441|DOID:13403|SCTID:111936002|UMLS:C0398676 Sarcoidosis of the cerebrum. UMLS:C0398676|DOID:13403|SNOMEDCT:111936002|NCIT:C35441 http://purl.obolibrary.org/obo/MONDO_0001706 telencephalon sarcoidosis|cerebral sarcoidosis|sarcoidosis of telencephalon UBERON:0009567 nail of pedal digit biolink:AnatomicalEntity mondo A nail that is part of a pedal digit. http://purl.obolibrary.org/obo/UBERON_0009567 nail plate of toe|toenail|nail of pes|hindlimb digit claw|toe nail|nail of toe|claw of pes|claw of foot|hindlimb claw|pedal claw|claw of toe NCBITaxon:210 Helicobacter pylori organism taxon mondo GC_ID:11|PMID:11931154|PMID:1995031|PMID:8186097|PMID:8494747 http://purl.obolibrary.org/obo/NCBITaxon_210 Campylobacter pyloridis|Helicobacter nemestrinae|Campylobacter pylori subsp. pylori|Campylobacter pylori CHEBI:27081 transition element atom biolink:ChemicalSubstance mondo An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. http://purl.obolibrary.org/obo/CHEBI_27081 metaux de transition|metal de transicion|transition metal|metal de transition|Uebergangselement|metales de transicion|transition metals|transition element|transition elements|transition element|Uebergangsmetalle CHEBI:78675 fundamental metabolite biolink:ChemicalSubstance mondo Any metabolite produced by all living cells. http://purl.obolibrary.org/obo/CHEBI_78675 fundamental metabolites|essential metabolite|essential metabolites NCBITaxon:235 Brucella abortus organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_235 Bacterium abortus|Brucella melitensis biovar Abortus|Brucella melitensis bv. Abortus NCBITaxon:234 Brucella organism taxon mondo PMID:28066370|PMID:8573514|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_234 CHEBI:64049 food acidity regulator biolink:ChemicalSubstance mondo A food additive that is used to change or otherwise control the acidity or alkalinity of foods. They may be acids, bases, neutralising agents or buffering agents. http://purl.obolibrary.org/obo/CHEBI_64049 pH control agent|pH control agents|food acidity regulators|acidity regulator|acidity regulators CHEBI:64047 food additive biolink:ChemicalSubstance mondo Any substance which is added to food to preserve or enhance its flavour and/or appearance. http://purl.obolibrary.org/obo/CHEBI_64047 food additives GO:0015758 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0015758 GO:0015760 glucose-6-phosphate transport biolink:OntologyClass mondo The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/GO_0015760 GO:0015739 sialic acid transport biolink:OntologyClass mondo The directed movement of sialic acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015739 CL:0000680 muscle precursor cell biolink:Cell mondo A non-terminally differentiated cell that is capable of developing into a muscle cell. http://purl.obolibrary.org/obo/CL_0000680 UBERON:0009636 prechordal cartilage biolink:AnatomicalEntity mondo Chondrocranium chondrification center that that forms anterior body of sphenoid, containing the sella turcica and posterior body of sphenoid. http://purl.obolibrary.org/obo/UBERON_0009636 HGNC:7800 NFKBIL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/7800 UBERON:0009638 orbitosphenoid ossification center biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009638 orbitosphenoid center CHEBI:76042 aromatic amino-acid zwitterion biolink:ChemicalSubstance mondo An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any aromatic amino-acid. http://purl.obolibrary.org/obo/CHEBI_76042 aromatic amino-acid zwitterions|an aromatic amino-acid UBERON:0009639 body of sphenoid biolink:AnatomicalEntity mondo The body of the sphenoid bone, more or less cubical in shape, is hollowed out in its interior to form two large cavities, the sphenoidal air sinuses, which are separated from each other by a septum. http://purl.obolibrary.org/obo/UBERON_0009639 sphenoid body|central body of sphenoid|body of sphenoidal bone|corpus ossis sphenoidalis|Entire body of sphenoid bone|corpus (os sphenoidale) UBERON:0009630 root of thoracic nerve biolink:AnatomicalEntity mondo A spinal nerve root that is part of a thoracic nerve. http://purl.obolibrary.org/obo/UBERON_0009630 nerve root part of thoracic spinal cord|thoracic neural root|thoracic nerve root UBERON:0009631 root of lumbar spinal nerve biolink:AnatomicalEntity mondo A spinal nerve root that is part of a lumbar nerve. http://purl.obolibrary.org/obo/UBERON_0009631 lumbar spinal nerve root|nerve root part of lumbar spinal cord|lumbar spinal neural root UBERON:0009632 root of cervical nerve biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009632 root of cervical spinal nerve|cervical spinal root|nerve root part of cervical spinal cord|cervical neural root UBERON:0009633 root of sacral nerve biolink:AnatomicalEntity mondo A spinal nerve root that is part of a sacral nerve. http://purl.obolibrary.org/obo/UBERON_0009633 nerve root part of sacral spinal cord|sacral neural root|root of sacral spinal nerve ECTO:4000000 exposure to deviation(from_normal)deviation (from_normal) of quality biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to deviation(from_normal)deviation (from_normal) of quality. http://purl.obolibrary.org/obo/ECTO_4000000 exposure to deviation(from_normal)deviation (from_normal) in quality ECTO:4000001 exposure to increased temperature biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to increased temperature. http://purl.obolibrary.org/obo/ECTO_4000001 increased temperature exposure CL:0010004 mononuclear cell of bone marrow biolink:Cell mondo A mononuclear cell that is part_of a bone marrow. http://purl.obolibrary.org/obo/CL_0010004 bone marrow mononuclear cell CL:0010001 stromal cell of bone marrow biolink:Cell mondo A stromal cell that is part_of a bone marrow. http://purl.obolibrary.org/obo/CL_0010001 bone marrow stromal cell HGNC:7808 NGF biolink:OntologyClass mondo http://identifiers.org/hgnc/7808 GO:0015748 organophosphate ester transport biolink:OntologyClass mondo The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. http://purl.obolibrary.org/obo/GO_0015748 GO:0015749 monosaccharide transmembrane transport biolink:OntologyClass mondo The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transport UBERON:0009623 spinal nerve root biolink:AnatomicalEntity mondo The paired bundles of nerve fibers entering and leaving the spinal cord at each segment. The dorsal and ventral nerve roots join to form the mixed segmental spinal nerves. The dorsal roots are generally afferent, formed by the central projections of the spinal (dorsal root) ganglia sensory cells, and the ventral roots efferent, comprising the axons of spinal motor and autonomic preganglionic neurons. There are, however, some exceptions to this afferent/efferent rule. http://purl.obolibrary.org/obo/UBERON_0009623 spinal root|root of spinal nerve|spinal neural root UBERON:0009624 lumbar nerve biolink:AnatomicalEntity mondo The lumbar nerves are the five spinal nerves emerging from the lumbar vertebrae. They are divided into posterior and anterior divisions. http://purl.obolibrary.org/obo/UBERON_0009624 nervus lumbalis|lumbar spinal nerve|nervi lumbales UBERON:0009625 sacral nerve biolink:AnatomicalEntity mondo The five sacral nerves emerge from the sacrum. Although the vertebral components of the sacrum are fused into a single bone, the sacral vertebrae are still used to number the sacral nerves. Posteriorly, they emerge from the posterior sacral foramina, and form the posterior branches of sacral nerves. Anteriorly, they emerge from the anterior sacral foramina, and contribute to the sacral plexus (S1-S4) and coccygeal plexus. http://purl.obolibrary.org/obo/UBERON_0009625 sacral spinal nerve|nervus sacralis|nervi sacrales CL:0010009 camera-type eye photoreceptor cell biolink:Cell mondo http://purl.obolibrary.org/obo/CL_0010009 camera type eye photoreceptor cell NCBITaxon:263 Francisella tularensis organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_263 Brucella tularensis|Pasteurella tularensis|Bacterium tularense|Francisella tularense NCBITaxon:262 Francisella organism taxon mondo PMID:8123561|PMID:19783615|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_262 CHEBI:15036 retinoate biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_15036 3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoate|retinoate UBERON:0009621 tail somite biolink:AnatomicalEntity mondo A somite that is part of a tail. http://purl.obolibrary.org/obo/UBERON_0009621 UBERON:0009622 pronephric proximal straight tubule biolink:AnatomicalEntity mondo A proximal straight tubule that is part of a pronephros. http://purl.obolibrary.org/obo/UBERON_0009622 proximal straight tubules CL:0000667 collagen secreting cell biolink:Cell mondo An extracellular matrix secreting cell that secretes collagen. http://purl.obolibrary.org/obo/CL_0000667 CL:0000669 pericyte cell biolink:Cell mondo BTO:0002441|FMA:63174 An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. http://purl.obolibrary.org/obo/CL_0000669 pericyte of Rouget|cell of Rouget|ARC|pericyte|adventitial reticular cell|adventitial cell PATO-PROPERTY:decreased_in_magnitude_relative_to decreased_in_magnitude_relative_to biolink:OntologyClass mondo q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/pato#decreased_in_magnitude_relative_to GO:0015711 organic anion transport biolink:OntologyClass mondo The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0015711 HGNC:7820 NHS biolink:OntologyClass mondo http://identifiers.org/hgnc/7820 GO:0015712 hexose phosphate transport biolink:OntologyClass mondo The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015712 UBERON:0009614 hindbrain neural plate biolink:AnatomicalEntity mondo A neural plate that develops_from a presumptive hindbrain. http://purl.obolibrary.org/obo/UBERON_0009614 UBERON:0009615 midbrain hindbrain boundary neural plate biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009615 MHB neural plate|midbrain-hindbrain boundary neural plate UBERON:0009616 presumptive midbrain biolink:AnatomicalEntity mondo A presumptive structure that has the potential to develop into a midbrain. http://purl.obolibrary.org/obo/UBERON_0009616 early midbrain|future midbrain|presumptive mesencephalon|mesencephalon UBERON:0009617 head paraxial mesoderm biolink:AnatomicalEntity mondo Bilateral mesenchymal mesoderm parallel and immediately adjacent to the neural tube/notochord; it generates a subset of extra-ocular, and other head, muscles. http://purl.obolibrary.org/obo/UBERON_0009617 cephalic paraxial mesoderm|cranial paraxial mesoderm|head paraxial mesenchyme|cephalic paraxial mesenchyme|somitomeric mesoderm|somitomere|cranial paraxial mesenchyme UBERON:0009618 trunk paraxial mesoderm biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0009618 trunk and cervical paraxial mesenchyme|trunk paraxial mesenchyme UBERON:0009610 forebrain neural plate biolink:AnatomicalEntity mondo A neural plate that develops_from a future forebrain. http://purl.obolibrary.org/obo/UBERON_0009610 UBERON:0009611 midbrain neural plate biolink:AnatomicalEntity mondo A neural plate that develops_from a presumptive midbrain. http://purl.obolibrary.org/obo/UBERON_0009611 CHEBI:27027 micronutrient biolink:ChemicalSubstance mondo Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. http://purl.obolibrary.org/obo/CHEBI_27027 micronutrients|trace elements ENVO:00002030 aquatic biome biolink:OntologyClass mondo A biome which is determined by a water body and which has ecological climax communities adapted to life in or on water. http://purl.obolibrary.org/obo/ENVO_00002030 CHEBI:27024 toluenes biolink:ChemicalSubstance mondo Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group. http://purl.obolibrary.org/obo/CHEBI_27024 NCBITaxon:287 Pseudomonas aeruginosa organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_287 Bacterium pyocyaneum|Micrococcus pyocyaneus|Bacillus aeruginosus|probable synonym or variety: "Pseudomonas polycolor" Clara 1930|Bacillus pyocyaneus|Pseudomonas polycolor|Pseudomonas pyocyanea|Bacterium aeruginosum CHEBI:27026 toxin biolink:ChemicalSubstance mondo Poisonous substance produced by a biological organism such as a microbe, animal or plant. http://purl.obolibrary.org/obo/CHEBI_27026 toxin|toxins UBERON:0009602 left lung associated mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing left lung. http://purl.obolibrary.org/obo/UBERON_0009602 left lung mesenchyme GO:0015723 bilirubin transport biolink:OntologyClass mondo The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015723 UBERON:0009603 right lung associated mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a developing right lung. http://purl.obolibrary.org/obo/UBERON_0009603 right lung mesenchyme NCBITaxon:286 Pseudomonas organism taxon mondo PMID:15950132|PMID:10758879|PMID:9103607|PMID:18048745|GC_ID:11|PMID:23918787|PMID:7727274|PMID:10939664 http://purl.obolibrary.org/obo/NCBITaxon_286 Liquidomonas|"Chlorobacterium" Guillebeau 1890, nom. rejic. Opin. 6 (not "Chlorobacterium" Lauterborn 1916)|RNA similarity group I|Loefflerella CHEBI:39000 sodium channel modulator biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_39000 sodium channel modulators MONDO:0023155 fibula aplasia complex brachydactyly biolink:Disease mondo GARD:0002329 http://purl.obolibrary.org/obo/MONDO_0023155 gard_rare ENVO:00002004 obsolete physical object of mesoscopic geological size biolink:OntologyClass mondo An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. http://purl.obolibrary.org/obo/ENVO_00002004 MONDO:0023156 obsolete fibular aplasia biolink:Disease mondo GARD:0008659 http://purl.obolibrary.org/obo/MONDO_0023156 gard_rare ECTO:4000030 exposure to decreased amount of temperature of soil biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of soil. http://purl.obolibrary.org/obo/ECTO_4000030 exposure to decreased amount in temperature of soil MONDO:0023157 fibular hypoplasia scapulo pelvic dysplasia absent biolink:Disease mondo GARD:0002333 http://purl.obolibrary.org/obo/MONDO_0023157 gard_rare MONDO:0023158 Fitz-Hugh-Curtis syndrome biolink:Disease mondo GARD:0006452|MESH:C537936|SCTID:237041005 Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics. MESH:C537936|SNOMEDCT:237041005 http://purl.obolibrary.org/obo/MONDO_0023158 gonococcal perihepatitis|perihepatitis syndrome gard_rare ENVO:00002000 slope biolink:OntologyClass mondo A solid astronomical body part which is part of the planetary surface between the peak of an elevation or the bottom of a depression and relatively flat surrounding land. http://purl.obolibrary.org/obo/ENVO_00002000 flank|side ECTO:4000031 exposure to increased amount of temperature of water biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to increased amount of temperature of water. http://purl.obolibrary.org/obo/ECTO_4000031 exposure to increased amount in temperature of water ECTO:4000032 exposure to decreased amount of temperature of water biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of water. http://purl.obolibrary.org/obo/ECTO_4000032 exposure to decreased amount in temperature of water MONDO:0023152 fibrocartilaginous embolism biolink:Disease mondo MESH:C537927|GARD:0009718|UMLS:C2931666 Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy. MESH:C537927|UMLS:C2931666 http://purl.obolibrary.org/obo/MONDO_0023152 embolism, fibrocartilaginous gard_rare MONDO:0023153 tuberculous ascites biolink:Disease mondo UMLS:C0275919|NCIT:C27076|SCTID:4501007 SNOMEDCT:4501007|NCIT:C27076|UMLS:C0275919 http://purl.obolibrary.org/obo/MONDO_0023153 Tuberculous Ascites|Tuberculous ascites|tuberculous ascites MONDO:0023154 fibromatosis multiple non ossifying biolink:Disease mondo GARD:0000309|SCTID:715432009|UMLS:C0796000 SNOMEDCT:715432009|UMLS:C0796000 http://purl.obolibrary.org/obo/MONDO_0023154 Jaffe Campanacci syndrome|disseminated nonossifying fibromas in association with cafe-au-lait spots gard_rare MONDO:0011177 ectodermal dysplasia 4, hair/nail type biolink:Disease mondo OMIM:602032|GARD:0004364|MESH:C566592 Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene. MESH:C566592|http://identifiers.org/omim/602032 http://purl.obolibrary.org/obo/MONDO_0011177 ECTD4|KRT85 pure hair and nail ectodermal dysplasia|ectodermal dysplasia, 'Pure' hair/nail type|pili torti onychodysplasia|pure hair and nail ectodermal dysplasia caused by mutation in KRT85|twisted hair with nail dysplasias|ectodermal dysplasia 4, hair/nail type|ectodermal dysplasia 4, hair/nail type; ECTD4 gard_rare MONDO:0011176 intestinal hypomagnesemia 1 biolink:Disease mondo ICD10:E83.4|Orphanet:30924|OMIM:602014|SCTID:190856003|GARD:0013072|DOID:0060883|MESH:C566593|UMLS:C1865974 Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. SNOMEDCT:190856003|UMLS:C1865974|MESH:C566593|ORPHA:30924|DOID:0060883|http://identifiers.org/omim/602014 http://purl.obolibrary.org/obo/MONDO_0011176 hypomagnesemia caused by selective magnesium malabsorption|TRPM6 familial primary hypomagnesemia|hypomagnesemia intestinal type 1|intestinal hypomagnesemia with secondary hypocalcemia|HSH|PHSH|HOMG1|hypomagnesemia 1, intestinal; HOMG1|primary hypomagnesemia with secondary hypocalcemia|intestinal hypomagnesemia type 1|hypomagnesemia with secondary hypocalcemia|hypomagnesemia, intestinal, with secondary hypocalcemia|familial primary hypomagnesemia caused by mutation in TRPM6|Homg|hypomagnesemic tetany|primary hypomagnesemia caused by mutation in TRPM6|hypomagnesemia 1, intestinal|TRPM6 primary hypomagnesemia ordo_disease MONDO:0011179 leishmaniasis, tegumentary, susceptibility to biolink:Disease mondo OMIM:602068 http://identifiers.org/omim/602068 http://purl.obolibrary.org/obo/MONDO_0011179 leishmaniasis, tegumentary, susceptibility to predisposition MONDO:0011178 infantile convulsions and choreoathetosis biolink:Disease mondo Orphanet:31709|GARD:0008553|UMLS:C1865926|ICD10:G40.4|NCIT:C126650|MESH:C535522|OMIM:602066|SCTID:715534008 Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence. http://identifiers.org/omim/602066|UMLS:C1865926|SNOMEDCT:715534008|ORPHA:31709|MESH:C535522|NCIT:C126650 http://purl.obolibrary.org/obo/MONDO_0011178 convulsions, infantile, with paroxysmal choreoathetosis, familial|Icca syndrome|convulsions, familial infantile, with paroxysmal choreoathetosis; ICCA|convulsions, familial infantile, with paroxysmal choreoathetosis|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia and infantile convulsions|PKD/IC|paroxysmal kinesigenic dyskinesia with infantile convulsions|ICCA syndrome|ICCA ordo_disease BFO:0000050 part of biolink:OntologyClass mondo a core relation that holds between a part and its whole http://purl.obolibrary.org/obo/BFO_0000050 HP:0000479 Abnormal retinal morphology biolink:PhenotypicFeature mondo UMLS:C0035309|SNOMEDCT_US:29555009|MSH:D012164|UMLS:C0035300 A structural abnormality of the retina. http://purl.obolibrary.org/obo/HP_0000479 Abnormal retina|Retina issue|Retinal disease|Abnormality of the retina|Anomaly of the retina hposlim_core HP:0000478 Abnormality of the eye biolink:PhenotypicFeature mondo SNOMEDCT_US:371405004|UMLS:C0015393|SNOMEDCT_US:371409005|MSH:D005128|SNOMEDCT_US:19416009|MSH:D005124|UMLS:C0015397 Any abnormality of the eye, including location, spacing, and intraocular abnormalities. http://purl.obolibrary.org/obo/HP_0000478 Eye disease|Abnormal eye|Abnormality of the eye hposlim_core BFO:0000055 realizes biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000055 ECTO:4000026 exposure to decreased amount of pressure of air biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of air. http://purl.obolibrary.org/obo/ECTO_4000026 exposure to decreased amount in pressure of water|decreased pressure exposure|exposure to decreased amount in pressure of air ECTO:4000027 exposure to increased amount of temperature of air biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to frozen of liquid water. http://purl.obolibrary.org/obo/ECTO_4000027 exposure to increased amount in temperature of air|exposure to frozen in liquid water BFO:0000057 has participant at some time biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000057 MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome biolink:Disease mondo Orphanet:69082|SCTID:722063009|MESH:C566598|UMLS:C1865998|OMIM:601957 Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. SNOMEDCT:722063009|http://identifiers.org/omim/601957|ORPHA:69082|MESH:C566598|UMLS:C1865998 http://purl.obolibrary.org/obo/MONDO_0011171 OTUDP syndrome|odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type|ODONTOTRICHOUNGUAL-digital-palmar syndrome|Otudp syndrome ordo_malformation_syndrome MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G biolink:Disease mondo Orphanet:34514|DOID:0110281|MESH:C566599|SCTID:720522001|OMIM:601954|ICD10:G71.0|GARD:0010471 Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. http://identifiers.org/omim/601954|MESH:C566599|DOID:0110281|SNOMEDCT:720522001|ORPHA:34514 http://purl.obolibrary.org/obo/MONDO_0011170 autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP|muscular dystrophy, limb-girdle, type 2G; LGMD2G|autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap|limb-girdle muscular dystrophy, type 2G|muscular dystrophy, limb-girdle, type 2G|LGMD2G|TCAP autosomal recessive limb-girdle muscular dystrophy|Tcap autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to telethonin deficiency ordo_disease ECTO:4000025 exposure to increased amount of pressure of water biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to increased amount of pressure of air. http://purl.obolibrary.org/obo/ECTO_4000025 exposure to increased amount in pressure of air|exposure to increased amount in pressure of water|increased pressure exposure MONDO:0011173 thrombocythemia 2 biolink:Disease mondo OMIM:601977|UMLS:C3275998 Any essential thrombocythemia in which the cause of the disease is a mutation in the MPL gene. UMLS:C3275998|http://identifiers.org/omim/601977 http://purl.obolibrary.org/obo/MONDO_0011173 MPL essential thrombocythemia|thrombocythemia 2; THCYT2|thrombocythemia type 2|THCYT2|essential thrombocythemia caused by mutation in MPL|thrombocythemia 2 BFO:0000051 has part biolink:OntologyClass mondo Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. http://purl.obolibrary.org/obo/BFO_0000051 ENVO:00002008 dust biolink:OntologyClass mondo Minute solid particles with diameters less than 500 micrometers. Occurs in and may be deposited from, the atmosphere. http://purl.obolibrary.org/obo/ENVO_00002008 MONDO:0011172 otofacioosseous-gonadal syndrome biolink:Disease mondo OMIM:601976|MESH:C566597|UMLS:C1865988 http://identifiers.org/omim/601976|MESH:C566597|UMLS:C1865988 http://purl.obolibrary.org/obo/MONDO_0011172 otofacioosseous-gonadal syndrome BFO:0000052 inheres in at all times biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000052 ENVO:00002007 sediment biolink:OntologyClass mondo Sediment is an environmental substance comprised of any particulate matter that can be transported by fluid flow and which eventually is deposited as a layer of solid particles on the bedor bottom of a body of water or other liquid. http://purl.obolibrary.org/obo/ENVO_00002007 MONDO:0011175 FRDA2 biolink:Disease mondo UMLS:C1865981|OMIM:601992|MESH:C566594 http://identifiers.org/omim/601992|MESH:C566594|UMLS:C1865981 http://purl.obolibrary.org/obo/MONDO_0011175 FRDA2|Friedreich ataxia 2; FRDA2|Friedreich ataxia 2 ECTO:4000028 exposure to frozen of air biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to frozen of air. http://purl.obolibrary.org/obo/ECTO_4000028 exposure to frozen in air ENVO:00002006 liquid water biolink:OntologyClass mondo An environmental material primarily composed of dihydrogen oxide in its liquid form. http://purl.obolibrary.org/obo/ENVO_00002006 water MONDO:0011174 hyperzincemia with functional zinc depletion biolink:Disease mondo OMIM:601979|UMLS:C1865986|MESH:C566595 http://identifiers.org/omim/601979|MESH:C566595|UMLS:C1865986 http://purl.obolibrary.org/obo/MONDO_0011174 hyperzincemia with functional zinc depletion ECTO:4000029 exposure to increased amount of temperature of soil biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to increased amount of temperature of soil. http://purl.obolibrary.org/obo/ECTO_4000029 exposure to increased amount in temperature of soil BFO:0000054 realized in biolink:OntologyClass mondo BFO:0000054 http://purl.obolibrary.org/obo/BFO_0000054 ENVO:00002005 air biolink:OntologyClass mondo The mixture of gases (roughly (by molar content/volume: 78% nitrogen, 20.95% oxygen, 0.93% argon, 0.038% carbon dioxide, trace amounts of other gases, and a variable amount (average around 1%) of water vapor) that surrounds the planet Earth. http://purl.obolibrary.org/obo/ENVO_00002005 MONDO:0023147 fetal parainfluenza virus type 3 syndrome biolink:Disease mondo GARD:0002309 A syndrome caused by HPIV-3. http://purl.obolibrary.org/obo/MONDO_0023147 Human respirovirus 3 infectious embryofetopathy|Human respirovirus 3 caused infectious embryofetopathy gard_rare MONDO:0023148 fetal phenothiazine syndrome biolink:Disease mondo GARD:0002311 http://purl.obolibrary.org/obo/MONDO_0023148 gard_rare MONDO:0023149 infection due to clostridium perfringens biolink:Disease mondo SCTID:65154009|UMLS:C0275619|GARD:0011970 UMLS:C0275619|SNOMEDCT:65154009 http://purl.obolibrary.org/obo/MONDO_0023149 C. perfringens infection|Infections, Clostridium perfringens|Infection due to Clostridium perfringens|Clostridium perfringens infection|Infection, Clostridium perfringens|Clostridium perfringens Infections|Infection caused by Clostridium perfringens|Clostridium perfringens Infection gard_rare ENVO:00002010 saline water biolink:OntologyClass mondo Water which contains a significant concentration of dissolved salts. http://purl.obolibrary.org/obo/ENVO_00002010 salt water MONDO:0023140 fenton Wilkinson Toselano syndrome biolink:Disease mondo GARD:0002287 http://purl.obolibrary.org/obo/MONDO_0023140 gard_rare MONDO:0023141 obsolete antihypertensive drugs antenatal exposure syndrome biolink:Disease mondo GARD:0000733 http://purl.obolibrary.org/obo/MONDO_0023141 antihypertensive drugs antenatal exposure|fetal antihypertensive drugs syndrome MONDO:0023142 fetal brain disruption sequence biolink:Disease mondo GARD:0002297 http://purl.obolibrary.org/obo/MONDO_0023142 gard_rare MONDO:0023143 fetal enterovirus syndrome biolink:Disease mondo GARD:0002302 http://purl.obolibrary.org/obo/MONDO_0023143 gard_rare MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome biolink:Disease mondo OMIM:601927|Orphanet:86915|ICD10:Q87.8|MESH:C535539|SCTID:721978002|MESH:C567398|GARD:0000284 Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. MESH:C567398|http://identifiers.org/omim/601927|SNOMEDCT:721978002|ORPHA:86915|MESH:C535539 http://purl.obolibrary.org/obo/MONDO_0011166 lymphedema, atrial septal defect, and characteristic facial changes|lymphedema, CARDIAC septal defects, and characteristic facies|Irons Bhan syndrome|Irons-Bhan syndrome|autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes|Irons-Bianchi syndrome|lymphedema, atrial septal defect, and characteristic facies gard_rare|ordo_malformation_syndrome MONDO:0011165 glomerulopathy with fibronectin deposits 2 biolink:Disease mondo SCTID:722759007|GARD:0009914|OMIM:601894 Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. SNOMEDCT:722759007|http://identifiers.org/omim/601894 http://purl.obolibrary.org/obo/MONDO_0011165 glomerular nephritis, familial, with fibronectin deposits|FN1 fibronectin glomerulopathy|fibronectin glomerulopathy caused by mutation in FN1|GFND2|glomerulopathy with fibronectin deposits 2; GFND2|glomerular nephritis familial with fibronectin deposits|glomerulopathy with fibronectin deposits 2|fibronectin glomerulopathy|glomerulopathy with fibronectin deposits type 2 MONDO:0011168 type 1 diabetes mellitus 10 biolink:Disease mondo UMLS:C1866040|OMIM:601942|MESH:C566602|DOID:0110749|ICD10:E10 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene. http://identifiers.org/omim/601942|MESH:C566602|UMLS:C1866040|DOID:0110749 http://purl.obolibrary.org/obo/MONDO_0011168 diabetes mellitus, insulin-dependent, 10; IDDM10|IL2RA type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 10|insulin-dependent diabetes mellitus 10|type 1 diabetes mellitus caused by mutation in IL2RA|IDDM10|diabetes mellitus, insulin-dependent, 10 HP:0000486 Strabismus biolink:PhenotypicFeature mondo SNOMEDCT_US:22066006|MSH:D013285|SNOMEDCT_US:128602000|UMLS:C0038379 A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. http://purl.obolibrary.org/obo/HP_0000486 Squint|Cross-eyed|Squint eyes hposlim_core MONDO:0011167 type 1 diabetes mellitus 6 biolink:Disease mondo OMIM:601941|MESH:C566603|ICD10:E10|DOID:0110745|UMLS:C1866041 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21. http://identifiers.org/omim/601941|MESH:C566603|UMLS:C1866041|DOID:0110745 http://purl.obolibrary.org/obo/MONDO_0011167 IDDM6|diabetes mellitus, insulin-dependent, 6|insulin-dependent diabetes mellitus 6|autoimmune thyroid disease, susceptibility to, 5|diabetes mellitus, insulin-dependent, 6; IDDM6 predisposition MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome biolink:Disease mondo OMIM:601952|ICD10:Q82.8|MESH:C566600|Orphanet:281201|SCTID:763775000|UMLS:C1866029 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. SNOMEDCT:763775000|http://identifiers.org/omim/601952|MESH:C566600|UMLS:C1866029|ORPHA:281201 http://purl.obolibrary.org/obo/MONDO_0011169 keratosis linearis with ichthyosis congenita and sclerosing keratoderma|KLICK syndrome|Klick syndrome|keratosis linearis with ichthyosis congenita and sclerosing keratoderma; KLICK|KLICK ordo_disease MONDO:0011160 autosomal recessive nonsyndromic deafness 15 biolink:Disease mondo UMLS:C1866094|DOID:0110470|MESH:C566611|OMIM:601869|ICD10:H90.3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene. http://identifiers.org/omim/601869|MESH:C566611|UMLS:C1866094|DOID:0110470 http://purl.obolibrary.org/obo/MONDO_0011160 autosomal recessive deafness 72|GIPC3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 15; DFNB15|DFNB95|deafness, autosomal recessive type 15|DFNB72|autosomal recessive nonsyndromic deafness caused by mutation in GIPC3|deafness, autosomal recessive 15|autosomal recessive deafness 15|autosomal recessive nonsyndromic deafness type 15|deafness, autosomal recessive 95|deafness, autosomal recessive 72|DFNB15|autosomal recessive deafness 95 BFO:0000040 material entity biolink:OntologyClass mondo An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. http://purl.obolibrary.org/obo/BFO_0000040 MONDO:0011162 cataract 14 multiple types biolink:Disease mondo DOID:0110253|UMLS:C1866078|OMIM:601885|MESH:C566608|ICD10:Q12.0 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene. http://identifiers.org/omim/601885|MESH:C566608|DOID:0110253|UMLS:C1866078 http://purl.obolibrary.org/obo/MONDO_0011162 CAE3|cataract 14, multiple types|CZP3|cataract, zonular pulverulent 3|Cae3|CTRCT14|cataract 14, multiple types; CTRCT14|zonular pulverulent cataract 3|GJA3 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in GJA3 MONDO:0011161 sperm-specific antigen 1 biolink:Disease mondo OMIM:601876 http://identifiers.org/omim/601876 http://purl.obolibrary.org/obo/MONDO_0011161 fertilization antigen 1|SSFA1|sperm-specific antigen 1|sperm-specific antigen type 1|sperm-specific antigen 1; SSFA1 ENVO:00002017 metamorphic rock biolink:OntologyClass mondo A rock formed by subjecting any rock type (including previously-formed metamorphic rock) to different temperature and pressure conditions than those in which the original rock was formed. These temperatures and pressures are always higher than those at the Earth's surface and must be sufficiently high so as to change the original minerals into other mineral types or else into other forms of the same minerals (e.g. by recrystallisation). http://purl.obolibrary.org/obo/ENVO_00002017 MONDO:0011164 malignant hyperthermia, susceptibility to, 6 biolink:Disease mondo OMIM:601888|MESH:C535699|GARD:0003368 http://identifiers.org/omim/601888|MESH:C535699 http://purl.obolibrary.org/obo/MONDO_0011164 malignant hyperthermia susceptibility type 6|malignant hyperthermia, susceptibility to, 6|malignant hyperpyrexia susceptibility type 6|malignant hyperthermia, susceptibility to, type 6|Mhs6|MHS6 gard_rare|predisposition MONDO:0011163 malignant hyperthermia, susceptibility to, 5 biolink:Disease mondo OMIM:601887|MESH:C535698|GARD:0003367 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene. http://identifiers.org/omim/601887|MESH:C535698 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia susceptibility type 5|malignant hyperthermia, susceptibility to, 5|malignant hyperthermia, susceptibility to, type 5|susceptibility to malignant hyperthermia 5|Mhs5|malignant hyperpyrexia susceptibility type 5|MHS5|CACNA1S malignant hyperthermia of anesthesia|malignant hyperthermia of anesthesia caused by mutation in CACNA1S gard_rare|predisposition HP:0000481 Abnormal cornea morphology biolink:PhenotypicFeature mondo UMLS:C4020889|UMLS:C1855670 Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. http://purl.obolibrary.org/obo/HP_0000481 Corneal abnormality|Corneal abnormalities|Cornela disease|Abnormality of the cornea hposlim_core ENVO:00002016 sedimentary rock biolink:OntologyClass mondo A rock formed by deposition of either clastic sediments, organic matter, or chemical precipitates (evaporites), followed by compaction of the particulate matter and cementation during diagenesis. http://purl.obolibrary.org/obo/ENVO_00002016 MONDO:0023133 Faye-Petersen-Ward-Carey syndrome biolink:Disease mondo UMLS:C2931417|MESH:C537076 UMLS:C2931417|MESH:C537076 http://purl.obolibrary.org/obo/MONDO_0023133 HP:0012440 Abnormal biliary tract morphology biolink:PhenotypicFeature mondo UMLS:C4021086 A structural abnormality of the biliary tree. http://purl.obolibrary.org/obo/HP_0012440 Anomaly of the biliary tract MONDO:0023134 febrile ulceronecrotic mucha-habermann disease biolink:Disease mondo SCTID:402860008|MESH:C537077|UMLS:C1274297|GARD:0009516 Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death. UMLS:C1274297|MESH:C537077|SNOMEDCT:402860008 http://purl.obolibrary.org/obo/MONDO_0023134 variant of Mucha-Habermann disease|febrile ulceronecrotic pityriasis lichenoides acuta|febrile ulceronecrotic mucha-habermann disease|ulceronecrotic Mucha-Habermann disease|FUMHD|A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA) gard_rare HP:0012443 Abnormality of brain morphology biolink:PhenotypicFeature mondo UMLS:C4021085 A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. http://purl.obolibrary.org/obo/HP_0012443 Abnormality of the brain|Abnormal shape of brain HP:0012444 Brain atrophy biolink:PhenotypicFeature mondo SNOMEDCT_US:278849000|SNOMEDCT_US:52522001|UMLS:C0235946|UMLS:C0154671|SNOMEDCT_US:418143002 Partial or complete wasting (loss) of brain tissue that was once present. http://purl.obolibrary.org/obo/HP_0012444 Brain degeneration|Brain wasting MONDO:0023137 feigenbaum Bergeron syndrome biolink:Disease mondo GARD:0002280 http://purl.obolibrary.org/obo/MONDO_0023137 gard_rare MONDO:0023138 Feingold trainer syndrome biolink:Disease mondo UMLS:C2931126|MESH:C536179|GARD:0002282 UMLS:C2931126|MESH:C536179 http://purl.obolibrary.org/obo/MONDO_0023138 unusual facies, cleft palate, short stature, and intellectual disability|unusual facies, cleft palate, short stature, and mental retardation gard_rare CHEBI:78608 alpha-amino acid zwitterion biolink:ChemicalSubstance mondo An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_78608 an alpha-amino acid HP:0012447 Abnormal myelination biolink:PhenotypicFeature mondo UMLS:C1857704 Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. http://purl.obolibrary.org/obo/HP_0012447 HP:0000458 Anosmia biolink:PhenotypicFeature mondo MSH:D000857|SNOMEDCT_US:44169009|UMLS:C0003126 An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. http://purl.obolibrary.org/obo/HP_0000458 Lost smell|Loss of smell hposlim_core MONDO:0011155 vacuolar Neuromyopathy biolink:Disease mondo MESH:C566617|OMIM:601846|UMLS:C1866139 http://identifiers.org/omim/601846|MESH:C566617|UMLS:C1866139 http://purl.obolibrary.org/obo/MONDO_0011155 muscular dystrophy, autosomal dominant, with rimmed vacuoles|vacuolar Neuromyopathy MONDO:0011154 acrofacial dysostosis, Palagonia type biolink:Disease mondo MESH:C538185|Orphanet:1787|ICD10:Q75.4|SCTID:720429007|UMLS:C1866168|OMIM:601829|DOID:0060385|GARD:0000499 Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. MESH:C538185|http://identifiers.org/omim/601829|ORPHA:1787|UMLS:C1866168|DOID:0060385|SNOMEDCT:720429007 http://purl.obolibrary.org/obo/MONDO_0011154 PAFD|acrofacial dysostosis Palagonia type|Palagonia type of acrofacial dysostosis|Palagonia form of AFD|acrofacial dysostosis, Patagonia type|acrofacial dysostosis, Palagonia type|AFD- Palagonia type ordo_malformation_syndrome MONDO:0011157 Gomez-Lopez-Hernandez syndrome biolink:Disease mondo SCTID:722451006|MESH:C537285|GARD:0000229|Orphanet:1532|ICD10:Q07.8|OMIM:601853 Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. SNOMEDCT:722451006|http://identifiers.org/omim/601853|MESH:C537285|ORPHA:1532 http://purl.obolibrary.org/obo/MONDO_0011157 Gómez-López-Hernández syndrome|GLHS|GOMEZ-LOPEZ-HERNANDEZ syndrome; GLHS|Cerebellotrigeminal-dermal dysplasia syndrome|Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia|Gomez Lopez Hernandez syndrome|Gomez-Lopez-Hernandez syndrome|Cerebellotrigeminal dermal dysplasia|craniosynostosis-alopecia-brain defect syndrome|Cerebellotrigeminal-dermal dysplasia|Gomez-Lopez-Hernández syndrome ordo_malformation_syndrome|gard_rare MONDO:0011156 progressive familial intrahepatic cholestasis type 2 biolink:Disease mondo OMIM:601847|ICD10:K76.8|UMLS:CN205889|Orphanet:79304|DOID:0070222|GARD:0001288 Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. UMLS:CN205889|DOID:0070222|http://identifiers.org/omim/601847|ORPHA:79304|UMLS:C1866138 http://purl.obolibrary.org/obo/MONDO_0011156 ABCB11 progressive familial intrahepatic cholestasis|progressive familial intrahepatic cholestasis caused by mutation in ABCB11|cholestasis, progressive familial intrahepatic, 2; PFIC2|severe ABCB11 deficiency|PFIC2|cholestasis, progressive familial intrahepatic, type 2|cholestasis, progressive familial intrahepatic, 2|BSEP deficiency ordo_clinical_subtype|gard_rare MONDO:0011159 autosomal dominant nonsyndromic deafness 13 biolink:Disease mondo DOID:0110545|UMLS:C1866095|OMIM:601868|ICD10:H90.3|MESH:C566612 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. DOID:0110545|http://identifiers.org/omim/601868|MESH:C566612|UMLS:C1866095 http://purl.obolibrary.org/obo/MONDO_0011159 deafness, autosomal dominant 13; DFNA13|deafness, autosomal dominant 13|COL11A2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 13|autosomal dominant nonsyndromic deafness caused by mutation in COL11A2|autosomal dominant deafness 13|deafness, autosomal dominant type 13|DFNA13 MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 biolink:Disease mondo OMIM:601859|ICD9:279.41|SCTID:702444009 http://identifiers.org/omim/601859|SNOMEDCT:702444009 http://purl.obolibrary.org/obo/MONDO_0011158 ALPS|autoimmune lymphoproliferative syndrome, type I, autosomal recessive|autoimmune lymphoproliferative syndrome, type I, autosomal dominant|autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 1B|autoimmune lymphoproliferative syndrome, type 1A|Canale-Smith syndrome|autoimmune lymphoproliferative syndrome; ALPS CHEBI:52090 methoxide biolink:ChemicalSubstance mondo An organic anion that is the conjugate base of methanol. http://purl.obolibrary.org/obo/CHEBI_52090 methoxide ion ECTO:4000002 exposure to increased amount of salt biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to increased amount of salt. http://purl.obolibrary.org/obo/ECTO_4000002 exposure to increased amount in salt ECTO:4000003 exposure to decreased amount of salt biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to decreased amount of salt. http://purl.obolibrary.org/obo/ECTO_4000003 exposure to decreased amount in salt MONDO:0011151 exudative vitreoretinopathy 4 biolink:Disease mondo MESH:C566619|OMIM:601813|UMLS:C1866176 http://identifiers.org/omim/601813|MESH:C566619|UMLS:C1866176 http://purl.obolibrary.org/obo/MONDO_0011151 exudative vitreoretinopathy 4|exudative vitreoretinopathy type 4|exudative vitreoretinopathy 4; EVR4|EVR4 MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome biolink:Disease mondo Orphanet:363665|ICD10:E34.8|OMIM:601812|MESH:C536653|UMLS:C1866182|GARD:0004498|GARD:0004276 http://identifiers.org/omim/601812|ORPHA:363665|MESH:C536653|UMLS:C1866182 http://purl.obolibrary.org/obo/MONDO_0011150 premature aging syndrome Penttinen type|premature aging syndrome, Penttinen type; PENTT|PENTT|premature aging syndrome, Penttinen type|progeroid syndrome, Penttinen type|prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly|Penttinen-aula syndrome gard_rare|ordo_disease MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 biolink:Disease mondo OMIM:601820|DOID:0070218|GARD:0009927|UMLS:C2931833 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene. UMLS:C2931833|DOID:0070218|http://identifiers.org/omim/601820 http://purl.obolibrary.org/obo/MONDO_0011153 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|KCNJ11 hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11|hyperinsulinemic hypoglycemia familial 2|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hyperinsulinism, congenital|hyperinsulinism, neonatal|hyperinsulinemic hypoglycemia, familial, 2; HHF2|HHF2|hyperinsulinemic hypoglycemia, familial, 2|hyperinsulinemic hypoglycemia, persistent|hyperinsulinemic hypoglycemia, familial, type 2|Nesidioblastosis|hyperinsulinism, familial|persistent hyperinsulinemic hypoglycemia of infancy gard_rare MONDO:0011152 PHGDH deficiency biolink:Disease mondo MESH:C566618|ICD10:E72.8|UMLS:C1866174|Orphanet:79351|DOID:0050722|OMIM:601815 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form http://identifiers.org/omim/601815|MESH:C566618|DOID:0050722|ORPHA:79351|UMLS:C1866174 http://purl.obolibrary.org/obo/MONDO_0011152 PHOSPHOGLYCERATE dehydrogenase deficiency; PHGDHD|3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form|PHOSPHOGLYCERATE dehydrogenase deficiency|PHGDHD|PHGDH deficiency ordo_disease MONDO:0023122 familial prostate carcinoma biolink:Disease mondo SCTID:715412008|NCIT:C103817|GARD:0004520|UMLS:CN036094|Orphanet:1331|OMIM:176807|GTR:AN0101369|GTR:AN0101368|UMLS:C2931456 Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma. UMLS:CN036094|UMLS:C2931456|http://identifiers.org/omim/176807|MESH:C537243|ORPHA:1331|SNOMEDCT:715412008|NCIT:C103817 http://purl.obolibrary.org/obo/MONDO_0023122 familial prostate cancer|prostate cancer, familial|hereditary prostate carcinoma|prostate cancer, hereditary|hereditary prostate cancer|hereditary prostate cancer gard_rare GO:1990266 neutrophil migration biolink:OntologyClass mondo The movement of a neutrophil within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/GO_1990266 CHEBI:78616 carbohydrates and carbohydrate derivatives biolink:ChemicalSubstance mondo Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and derivatives|carbohydrates and their derivatives MONDO:0023124 familial pulmonary arterial hypertension leucopenia and atrial septal defect biolink:Disease mondo GARD:0010455 http://purl.obolibrary.org/obo/MONDO_0023124 familial PAH, leucopenia and ASD|familial pulmonary arterial hypertension, leucopenia and ASD gard_rare MONDO:0023129 Fara Chlupackova syndrome biolink:Disease mondo GARD:0002273|MESH:C537074|UMLS:C2931416 UMLS:C2931416|MESH:C537074 http://purl.obolibrary.org/obo/MONDO_0023129 familial oto-facio-cervical dysmorphia gard_rare MONDO:0023121 familial partial paralysis biolink:Disease mondo MEDGEN:447610|GTR:AN0100894|GARD:0008607|UMLS:CN035928 UMLS:CN035928 http://purl.obolibrary.org/obo/MONDO_0023121 partial paralysis, familial gard_rare MONDO:0011144 neuronal ceroid lipofuscinosis 6 biolink:Disease mondo OMIM:601780|MESH:C566627|DOID:0110729|Orphanet:228363|ICD10:E75.4|GARD:0001224 Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. DOID:0110729|ORPHA:228363|http://identifiers.org/omim/601780|MESH:C566627 http://purl.obolibrary.org/obo/MONDO_0011144 CLN6 disease, adult Kufs type A (subtype)|neuronal ceroid lipofuscinosis type 6|late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6|ceroid lipofuscinosis, neuronal, 6, variable Age at onset|CLN6|neuronal ceroid lipofuscinosis, late infantile, variant|ceroid lipofuscinosis, neuronal, 6|CLN6 disease, late infantile (subtype)|neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant|ceroid lipofuscinosis, neuronal, 6; CLN6|CLN6 disease|ceroid lipofuscinosis, neuronal, type 6|neuronal ceroid lipofuscinosis 6 variable age of onset|CLN6 late infantile neuronal ceroid lipofuscinosis ordo_etiological_subtype|clingen|gard_rare MONDO:0011143 cone-rod dystrophy 6 biolink:Disease mondo UMLS:C1866293|MESH:C538363|DOID:0111011|GARD:0010656|OMIM:601777 Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. MESH:C538363|http://identifiers.org/omim/601777|DOID:0111011|UMLS:C1866293 http://purl.obolibrary.org/obo/MONDO_0011143 CORD6|cone-rod dystrophy 6; CORD6|cone-rod dystrophy type 6|cone-rod dystrophy 6|cone-rod dystrophy caused by mutation in GUCY2D|GUCY2D cone-rod dystrophy|RCD2|retinal cone dystrophy 2 MONDO:0011146 tetrasomy 12p biolink:Disease mondo MESH:C538105|NCIT:C75458|OMIM:601803|SCTID:9527009|ICD9:758.81|GARD:0008421|UMLS:C0265449|ICD10:Q99.8|Orphanet:884 Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. SNOMEDCT:9527009|MESH:C538105|http://identifiers.org/omim/601803|UMLS:C0265449|NCIT:C75458|ORPHA:884 http://purl.obolibrary.org/obo/MONDO_0011146 Pallister mosaic syndrome|Hexasomy 12P, Mosaic|Killian syndrome|Pallister-Killian mosaic syndrome|tetrasomy 12P, Mosaic|Isochromosome 12p syndrome|Isochromosome 12p mosaicism|Isochromosome 12P syndrome|tetrasomy type 12p|PKS|Pallister-Killian syndrome; PKS|Pallister Killian syndrome|Pallister-Killian syndrome|Killian Teschler-Nicola syndrome|chromosome 12, Isochromosome 12p syndrome|Teschler-Nicola Killian syndrome ordo_malformation_syndrome MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C1866256|OMIM:601794|MESH:C566623|Orphanet:363741 UMLS:C1866256|http://identifiers.org/omim/601794|ORPHA:363741|MESH:C566623 http://purl.obolibrary.org/obo/MONDO_0011145 coloboma-obesity-hypogenitalism-intellectual disability syndrome|coloboma-obesity-hypogenitalism-mental retardation syndrome ordo_disease MONDO:0011148 Spondylospinal thoracic dysostosis biolink:Disease mondo OMIM:601809|GARD:0010571|MESH:C566622|UMLS:C1866184 Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life. UMLS:C1866184|http://identifiers.org/omim/601809|MESH:C566622 http://purl.obolibrary.org/obo/MONDO_0011148 spondylospinal thoracic dysostosis gard_rare MONDO:0011147 chromosome 18q deletion syndrome biolink:Disease mondo ICD10:Q93.5|Orphanet:1600|OMIM:601808|NCIT:C84522|GARD:0010866|DOID:0060407|UMLS:C0432443|SCTID:270889005|MESH:C536580|ICD9:758.39 A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. UMLS:C0432443|UMLS:C2931249|DOID:0060407|NCIT:C84522|http://identifiers.org/omim/601808|ORPHA:1600|MESH:C536580|SNOMEDCT:270889005 http://purl.obolibrary.org/obo/MONDO_0011147 proximal chromosome 18q deletion syndrome|proximal 18q deletion|proximal 18q-|deletion 18q syndrome|18Q- syndrome|proximal 18q deletion syndrome|monosomy type 18q|monosomy 18q|18Q syndrome|deletion 18q|chromosome 18q deletion syndrome|18q-syndrome|chromosome 18Q- syndrome|18q- syndrome|monosomy 18q syndrome|18q deletion syndrome ordo_malformation_syndrome MONDO:0011149 premature aging syndrome, Okamoto type biolink:Disease mondo GARD:0004478|UMLS:C1866183|OMIM:601811|MESH:C566621 UMLS:C1866183|http://identifiers.org/omim/601811|MESH:C566621 http://purl.obolibrary.org/obo/MONDO_0011149 premature aging Okamoto type|premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay|premature aging syndrome, Okamoto type BFO:0000066 occurs in biolink:OntologyClass mondo b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/BFO_0000066 MONDO:0023119 familial myelofibrosis biolink:Disease mondo UMLS:C2931351|GARD:0008516|MESH:C536848 MESH:C536848|UMLS:C2931351 http://purl.obolibrary.org/obo/MONDO_0023119 gard_rare BFO:0000067 contains process biolink:OntologyClass mondo [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/BFO_0000067 MONDO:0011140 benign familial neonatal-infantile seizures biolink:Disease mondo Orphanet:140927|MedDRA:10067866|GARD:0001518|ICD10:G40.4 Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. MEDDRA:10067866|ORPHA:140927 http://purl.obolibrary.org/obo/MONDO_0011140 seizures, benign familial infantile, 1|BFIS1|benign familial infantile convulsions|convulsions benign familial neonatal|convulsions, benign familial infantile, 1|BFNIS|benign neonatal-infantile epilepsy|seizures, benign familial infantile, 1; BFIS1|epilepsy, benign neonatal-infantile ordo_disease|gard_rare BFO:0000062 preceded by biolink:OntologyClass mondo X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) http://purl.obolibrary.org/obo/BFO_0000062 is preceded by|takes place after BFO:0000063 precedes biolink:OntologyClass mondo x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/BFO_0000063 MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type biolink:Disease mondo GARD:0008486|ICD10:Q79.6|SCTID:720860004|GARD:0000545|Orphanet:2953|MESH:C000600608 Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. http://identifiers.org/omim/601776|ORPHA:2953|SNOMEDCT:720860004|MESH:C000600608 http://purl.obolibrary.org/obo/MONDO_0011142 Dundar syndrome|EDS, arthrogryposic type|Ehlers-Danlos syndrome, musculocontractural type, 1; EDSMC1|Ehlers-Danlos syndrome, musculocontractural type 1; EDSMC1|D4ST1-deficient Ehlers-Danlos syndrome|adducted thumb clubfoot syndrome|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|Ehlers-Danlos syndrome, musculocontractural type 1|EDSMC1|Ehlers-Danlos syndrome, type Vib, formerly|adducted thumbs Dundar type|EDS, Kosho type|CHST14-related Ehlers-Danlos syndrome|CHST14-related EDS|Ehlers-Danlos syndrome, type Vib|Ehlers-Danlos syndrome, Kosho type|musculocontractural Ehlers-Danlos syndrome|D4ST1-deficient EDS|EDS, musculocontractural type|Ehlers-Danlos syndrome, musculocontractural type, 1|adducted thumb-club foot syndrome|EDSMC|arthrogryposis, distal, with peculiar facies and hydronephrosis|EDSmc|adducted thumb-clubfoot syndrome|MCEDS|ATCS|musculocontractural EDS|autosomal recessive adducted thumb-club foot syndrome|EDS6B, formerly|adducted thumbs-arthrogryposis syndrome, Dundar type|Ehlers-Danlos syndrome, type VIB, formerly|Ehlers-Danlos syndrome, arthrogryposic type ordo_disease MONDO:0011141 folate level in erythrocytes biolink:Disease mondo OMIM:601775 http://identifiers.org/omim/601775 http://purl.obolibrary.org/obo/MONDO_0011141 folate level in erythrocytes MONDO:0023199 frontonasal dysplasia phocomelic upper limbs biolink:Disease mondo GARD:0002395 http://purl.obolibrary.org/obo/MONDO_0023199 gard_rare BFO:0000019 quality biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000019 NCBITaxon:13203 Phlebotomus organism taxon mondo GC_ID:1|PMID:9835021 http://purl.obolibrary.org/obo/NCBITaxon_13203 Phlebotomus BFO:0000015 process biolink:OntologyClass mondo p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003]) http://purl.obolibrary.org/obo/BFO_0000015 BFO:0000016 disposition biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000016 BFO:0000017 realizable entity biolink:OntologyClass mondo A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. http://purl.obolibrary.org/obo/BFO_0000017 MONDO:0023191 Freire-Maia odontotrichomelic syndrome biolink:Disease mondo UMLS:C2930960|GARD:0002381|MESH:C535637 MESH:C535637|UMLS:C2930960 http://purl.obolibrary.org/obo/MONDO_0023191 odontotrichomelic hypohidrotic dysplasia gard_rare MONDO:0023193 Friedman Goodman syndrome biolink:Disease mondo GARD:0002387 http://purl.obolibrary.org/obo/MONDO_0023193 gard_rare MONDO:0023194 frints de Smet Fabry Fryns syndrome biolink:Disease mondo GARD:0001680|MESH:C538062 MESH:C538062 http://purl.obolibrary.org/obo/MONDO_0023194 Symbrachydactyly of the hand and foot gard_rare HGNC:20193 HFM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20193 HGNC:20194 POLR1C biolink:OntologyClass mondo http://identifiers.org/hgnc/20194 MONDO:0023196 frontonasal malformation cloacal exstrophy biolink:Disease mondo GARD:0002389 http://purl.obolibrary.org/obo/MONDO_0023196 fronto nasal malformation cloacal exstrophy gard_rare MONDO:0023197 frontonasal dysplasia Klippel feil syndrome biolink:Disease mondo GARD:0002394 http://purl.obolibrary.org/obo/MONDO_0023197 gard_rare HGNC:20197 SLC35C1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20197 MONDO:0023188 Freiberg disease biolink:Disease mondo MESH:C535636|SCTID:28466007|UMLS:C0264099|GARD:0002380 Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. SNOMEDCT:28466007|UMLS:C0264099|MESH:C535636 http://purl.obolibrary.org/obo/MONDO_0023188 Freiberg-Kohler syndrome|Freiberg's disease|second metatarsal osteochondrosis|Freiberg's infraction|Osteochondrosis of the metatarsal head, usually the second|Kohler's second disease gard_rare NCBITaxon:39824 Klebsiella granulomatis organism taxon mondo GC_ID:11|PMID:10555350 http://purl.obolibrary.org/obo/NCBITaxon_39824 Encapsulatus inguinalis|Donovania granulomatis|Calymmatobacterium granulomatis BFO:0000004 independent continuant biolink:OntologyClass mondo b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002]) http://purl.obolibrary.org/obo/BFO_0000004 BFO:0000006 spatial region biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000006 MONDO:0023180 fragile X syndrome type 3 biolink:Disease mondo GARD:0002368 http://purl.obolibrary.org/obo/MONDO_0023180 gard_rare MONDO:0023182 Franceschini Vardeu Guala syndrome biolink:Disease mondo UMLS:C2931463|GARD:0002371|MESH:C537272 UMLS:C2931463|MESH:C537272 http://purl.obolibrary.org/obo/MONDO_0023182 gard_rare MONDO:0023186 Fraser Jequier Chen syndrome biolink:Disease mondo GARD:0002373|UMLS:C2930912|MESH:C535481 MESH:C535481|UMLS:C2930912 http://purl.obolibrary.org/obo/MONDO_0023186 chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs gard_rare NCBITaxon:27841 Echinostomata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_27841 BFO:0000001 entity biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000001 BFO:0000002 continuant biolink:OntologyClass mondo An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. http://purl.obolibrary.org/obo/BFO_0000002 BFO:0000003 occurrent biolink:OntologyClass mondo An entity that has temporal parts and that happens, unfolds or develops through time. http://purl.obolibrary.org/obo/BFO_0000003 GO:1990204 oxidoreductase complex biolink:OntologyClass mondo Any protein complex that possesses oxidoreductase activity. http://purl.obolibrary.org/obo/GO_1990204 redox complex|oxidation-reduction complex MONDO:0023178 fragile X syndrome type 1 biolink:Disease mondo GARD:0002366 http://purl.obolibrary.org/obo/MONDO_0023178 gard_rare MONDO:0023179 fragile X syndrome type 2 biolink:Disease mondo GARD:0002367 http://purl.obolibrary.org/obo/MONDO_0023179 gard_rare HGNC:19185 FRAS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19185 HGNC:19181 KIF14 biolink:OntologyClass mondo http://identifiers.org/hgnc/19181 MONDO:0023170 focal or multifocal malformations in neuronal migration biolink:Disease mondo GARD:0002350 http://purl.obolibrary.org/obo/MONDO_0023170 gard_rare MONDO:0023171 foix chavany Marie syndrome biolink:Disease mondo UMLS:C2931412|Orphanet:2048|SCTID:720956003|MESH:C537069|GARD:0002351 Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. MESH:C537069|UMLS:C2931412|SNOMEDCT:720956003|ORPHA:2048 http://purl.obolibrary.org/obo/MONDO_0023171 facio-pharyngo-glosso-masticatory diplegia|facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation|congenital Foix-Chavany-Marie syndrome (subtype)|opercular syndrome, anterior|foix chavany Marie syndrome|anterior opercular syndrome|bilateral anterior opercular syndrome|facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis|pseudobulbar paralysis, cortical type|congenital Foix-Chavany-Marie syndrome gard_rare MONDO:0023174 obsolete follicular lymphoreticuloma biolink:Disease mondo GARD:0002357 http://purl.obolibrary.org/obo/MONDO_0023174 gard_rare MONDO:0023175 Fontaine farriaux blanckaert syndrome biolink:Disease mondo GARD:0002358 http://purl.obolibrary.org/obo/MONDO_0023175 gard_rare MONDO:0023176 formaldehyde poisoning biolink:Disease mondo MESH:C537268|GARD:0002361 MESH:C537268 http://purl.obolibrary.org/obo/MONDO_0023176 Formalin intoxication|formaldehyde exposure|formaldehyde toxicity|Formalin toxicity gard_rare MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease biolink:Disease mondo OMIM:602114|MESH:C566573|UMLS:C1865831 MESH:C566573|http://identifiers.org/omim/602114|UMLS:C1865831 http://purl.obolibrary.org/obo/MONDO_0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type biolink:Disease mondo Orphanet:93356|OMIM:602111|DOID:0080030|GARD:0010618|ICD10:Q77.7|SCTID:719171005 Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. DOID:0080030|SNOMEDCT:719171005|http://identifiers.org/omim/602111|ORPHA:93356 http://purl.obolibrary.org/obo/MONDO_0011198 metaphyseal anadysplasia 1|spondyloepimetaphyseal dysplasia type 2|spondyloepimetaphyseal dysplasia Missouri type|SEMD type 2|spondyloepimetaphyseal dysplasia, Missouri type|Missouri type of spondyloepimetaphyseal dysplasia|SEMD, Missouri type|SEMD Missouri type ordo_disease|gard_rare HP:0000496 Abnormality of eye movement biolink:PhenotypicFeature mondo UMLS:C0497202|SNOMEDCT_US:103252009 An abnormality in voluntary or involuntary eye movements or their control. http://purl.obolibrary.org/obo/HP_0000496 Eye movement issue|Abnormal eye movement|Abnormal extraocular movement|Eye movement abnormalities|Abnormal ocular movements|Abnormal movement of the globe of the eye|Abnormal extraocular movements|Ocular movement abnormalities|Oculomotor abnormalities|Abnormal eye movements|Abnormality of eye movement|Abnormal motility of the globe of the eye|Abnormal eye motility hposlim_core HP:0000499 Abnormal eyelash morphology biolink:PhenotypicFeature mondo UMLS:C2675111 An abnormality of the eyelashes. http://purl.obolibrary.org/obo/HP_0000499 Eyelash abnormality|Abnormal eyelashes|Abnormality of the eyelashes hposlim_core MONDO:0011191 capillary infantile hemangioma biolink:Disease mondo Orphanet:91415|MESH:C535860|OMIM:602089|UMLS:C1865871 MESH:C535860|http://identifiers.org/omim/602089|UMLS:C1865871|ORPHA:91415 http://purl.obolibrary.org/obo/MONDO_0011191 hemangioma, capillary infantile|hemangioma, hereditary capillary|HCI MONDO:0011190 nephronophthisis 2 biolink:Disease mondo UMLS:C1865872|MESH:C566582|Orphanet:93591|OMIM:602088|DOID:0111113 Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. MESH:C566582|DOID:0111113|http://identifiers.org/omim/602088|UMLS:C1865872|ORPHA:93591 http://purl.obolibrary.org/obo/MONDO_0011190 INVS nephronophthisis (disease)|nephronophthisis 2; NPHP2|nephronophthisis 2|Nph2|nephronophthisis (disease) caused by mutation in INVS|infantile nephronophthisis 2|nephronophthisis type 2|NPH2|NPHP2 MONDO:0011193 cone dystrophy 3 biolink:Disease mondo UMLS:C1865869|OMIM:602093|DOID:0080314 Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene. DOID:0080314|http://identifiers.org/omim/602093|UMLS:C1865869 http://purl.obolibrary.org/obo/MONDO_0011193 GUCA1A cone dystrophy|cone-rod dystrophy 14|cone dystrophy type 3|cone dystrophy 3; COD3|cone dystrophy 3|COD3|cone dystrophy caused by mutation in GUCA1A|retinal cone dystrophy MONDO:0011192 autosomal recessive nonsyndromic deafness 18A biolink:Disease mondo UMLS:C1865870|OMIM:602092|ICD10:H90.3|MESH:C566580|DOID:0110473 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene. MESH:C566580|DOID:0110473|http://identifiers.org/omim/602092|UMLS:C1865870 http://purl.obolibrary.org/obo/MONDO_0011192 autosomal recessive nonsyndromic deafness type 18A|autosomal recessive nonsyndromic deafness caused by mutation in USH1C|autosomal recessive deafness 18A|deafness, autosomal recessive 18|deafness, autosomal recessive 18A; DFNB18A|deafness, autosomal recessive 18A|DFNB18A|USH1C autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 18A clingen MONDO:0011195 Usher syndrome type 1E biolink:Disease mondo ICD10:H35.5|GARD:0005439|UMLS:C1865865|DOID:0110833|OMIM:602097 A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner. DOID:0110833|http://identifiers.org/omim/602097|UMLS:C1865865 http://purl.obolibrary.org/obo/MONDO_0011195 Usher syndrome, type 1E|USHER syndrome, type IE|USH1E|Usher syndrome type IE|USHER syndrome, type IE; USH1E gard_rare HP:0000491 Keratitis biolink:PhenotypicFeature mondo MSH:D007634|SNOMEDCT_US:5888003|UMLS:C0022568 Inflammation of the cornea. http://purl.obolibrary.org/obo/HP_0000491 Corneal inflammation hposlim_core MONDO:0011194 Alzheimer disease 5 biolink:Disease mondo ICD10:G30|MESH:C566578|DOID:0110037|OMIM:602096|UMLS:C1865868 MESH:C566578|DOID:0110037|http://identifiers.org/omim/602096|UMLS:C1865868 http://purl.obolibrary.org/obo/MONDO_0011194 Alzheimer disease, familial 5|Ad5|Alzheimer disease type 5|Alzheimer disease 5|Alzheimer's disease type 5|AD5|Alzheimer's disease 5|Alzheimer disease, familial, 5 BFO:0000030 object biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000030 BFO:0000031 generically dependent continuant biolink:OntologyClass mondo b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001]) http://purl.obolibrary.org/obo/BFO_0000031 MONDO:0011197 hereditary thermosensitive neuropathy biolink:Disease mondo UMLS:C1865856|ICD10:G60.0|MESH:C566575|Orphanet:84093|SCTID:715645004|OMIM:602107 Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy. MESH:C566575|ORPHA:84093|SNOMEDCT:715645004|http://identifiers.org/omim/602107|UMLS:C1865856 http://purl.obolibrary.org/obo/MONDO_0011197 neuropathy, hereditary thermosensitive ordo_disease HGNC:19189 DOCK6 biolink:OntologyClass mondo http://identifiers.org/hgnc/19189 MONDO:0011196 amyotrophic lateral sclerosis type 5 biolink:Disease mondo MESH:C566576|UMLS:C1865864|DOID:0060197|OMIM:602099|GARD:0010503 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene. MESH:C566576|DOID:0060197|http://identifiers.org/omim/602099|UMLS:C1865864 http://purl.obolibrary.org/obo/MONDO_0011196 amyotrophic lateral sclerosis caused by mutation in SPG11|amyotrophic lateral sclerosis 5|amyotrophic lateral sclerosis 5, juvenile|ALS5|amyotrophic lateral sclerosis 5, juvenile; ALS5|SPG11 amyotrophic lateral sclerosis gard_rare HP:0000492 Abnormal eyelid morphology biolink:PhenotypicFeature mondo UMLS:C4021803 An abnormality of the eyelids. http://purl.obolibrary.org/obo/HP_0000492 Abnormality of the eyelid|Abnormality of the eyelids hposlim_core MONDO:0023167 focal alopecia congenital megalencephaly biolink:Disease mondo GARD:0002349 http://purl.obolibrary.org/obo/MONDO_0023167 gard_rare NCBITaxon:209 Helicobacter organism taxon mondo PMID:29034857|PMID:11156001|GC_ID:11|PMID:17329766|PMID:1704793|PMID:15143020 http://purl.obolibrary.org/obo/NCBITaxon_209 HGNC:20188 DNAAF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/20188 HGNC:19194 HMCN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19194 UBERON:5002544 digit plus metapodial segment biolink:AnatomicalEntity mondo A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_5002544 digit ray|digit ( phalanges plus metapodial) plus soft tissue|digit|digit digitopodial subdivision BFO:0000029 site biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000029 HGNC:19190 DOCK7 biolink:OntologyClass mondo http://identifiers.org/hgnc/19190 HGNC:19191 DOCK8 biolink:OntologyClass mondo http://identifiers.org/hgnc/19191 MONDO:0023161 viral myocarditis biolink:Disease mondo SCTID:89141000|NCIT:C128381|UMLS:C0276138 Myocarditis that is caused by an infection with a viral agent. NCIT:C128381|UMLS:C0276138|SNOMEDCT:89141000 http://purl.obolibrary.org/obo/MONDO_0023161 Viral myocarditis|Viral Myocarditis|viral myocarditis MONDO:0023164 viral pericarditis biolink:Disease mondo SCTID:70189005|UMLS:C0276139|NCIT:C128405 Pericarditis that is caused by an infection with a viral agent. SNOMEDCT:70189005|NCIT:C128405|UMLS:C0276139 http://purl.obolibrary.org/obo/MONDO_0023164 Viral pericarditis|viral pericarditis|Viral Pericarditis MONDO:0023165 florid cystic endosalpingiosis of the uterus biolink:Disease mondo MESH:C537064|UMLS:C2931410|GARD:0000130 MESH:C537064|UMLS:C2931410 http://purl.obolibrary.org/obo/MONDO_0023165 intramural florid cystic endosalpingiosis of the uterus|florid cystic endosalpingiosis|intramural florid cystic endosalpingiosis in lower uterine segment of the uterus|cystic endosalpingiosis of the uterus gard_rare MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 biolink:Disease mondo DOID:0110072|OMIM:602086|MESH:C566584|ICD10:I42.8|UMLS:C1865882 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. MESH:C566584|DOID:0110072|http://identifiers.org/omim/602086|UMLS:C1865882 http://purl.obolibrary.org/obo/MONDO_0011188 ARVD3|ARVC3|arrhythmogenic right ventricular dysplasia type 3|arrhythmogenic right ventricular dysplasia, familial, 3|arrhythmogenic right ventricular dysplasia, familial, 3; ARVD3|arrhythmogenic right ventricular cardiomyopathy 3|familial arrhythmogenic right ventricular dysplasia 3 MONDO:0011187 polydactyly, postaxial, type A2 biolink:Disease mondo UMLS:C1865883|MESH:C566585|OMIM:602085 MESH:C566585|http://identifiers.org/omim/602085|UMLS:C1865883 http://purl.obolibrary.org/obo/MONDO_0011187 polydactyly, postaxial, type A2|polydactyly, postaxial, type A2; PAPA2|PAPA2|postaxial polydactyly, type A2 MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 biolink:Disease mondo DOID:0110073|OMIM:602087|MESH:C566583|ICD10:I42.8|UMLS:C1865881 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. MESH:C566583|DOID:0110073|http://identifiers.org/omim/602087|UMLS:C1865881 http://purl.obolibrary.org/obo/MONDO_0011189 arrhythmogenic right ventricular dysplasia type 4|arrhythmogenic right ventricular dysplasia, familial, 4|arrhythmogenic right ventricular dysplasia, familial, 4; ARVD4|arrhythmogenic right ventricular cardiomyopathy 4|fanilial arrhythmogenic right ventricular dysplasia 4|ARVD4|ARVC4 MONDO:0011180 broad terminal phalanges, familial biolink:Disease mondo MESH:C566588|UMLS:C1865923|OMIM:602071 MESH:C566588|http://identifiers.org/omim/602071|UMLS:C1865923 http://purl.obolibrary.org/obo/MONDO_0011180 broad terminal phalanges, familial NCBITaxon:27829 Strongyloidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_27829 BFO:0000023 role biolink:OntologyClass mondo A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. http://purl.obolibrary.org/obo/BFO_0000023 MONDO:0011182 trimethylaminuria (disease) biolink:Disease mondo HP:0003614|GARD:0006447|SCTID:237959005|OMIM:602079|MESH:C536561|UMLS:C0342739 SNOMEDCT:237959005|MESH:C536561|UMLS:C0342739|http://identifiers.org/omim/602079 http://purl.obolibrary.org/obo/MONDO_0011182 fish malodor syndrome|TMAU|trimethylaminuria|fish-odor syndrome|trimethylaminuria; TMAU|stale fish syndrome|fish odor syndrome|TMAuria BFO:0000024 fiat object biolink:OntologyClass mondo http://purl.obolibrary.org/obo/BFO_0000024 MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 biolink:Disease mondo UMLS:C1865915|MESH:C566587|OMIM:602078 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene. MESH:C566587|http://identifiers.org/omim/602078|UMLS:C1865915 http://purl.obolibrary.org/obo/MONDO_0011181 fibrosis of extraocular muscles, congenital, type 2|congenital fibrosis of extraocular muscles caused by mutation in PHOX2A|Feom2 locus|fibrosis of extraocular muscles, congenital, 2|fibrosis of extraocular muscles, congenital, autosomal recessive|fibrosis of extraocular muscles, congenital, 2; CFEOM2|PHOX2A congenital fibrosis of extraocular muscles|CFEOM2 MONDO:0011184 childhood apraxia of speech biolink:Disease mondo ICD9:315.39|GARD:0012889|Orphanet:209908|OMIM:602081|SCTID:229703009 ORPHA:209908|SNOMEDCT:229703009|http://identifiers.org/omim/602081 http://purl.obolibrary.org/obo/MONDO_0011184 speech-language disorder-1|articulatory apraxia|speech-language disorder 1; SPCH1|developmental verbal dyspraxia|childhood apraxia of speech|speech-language disorder type 1|speech-language disorder 1|developmental verbal apraxia|SPCH1|das|speech and language disorder with orofacial dyspraxia|CAS|developmental apraxia of speech ordo_disease MONDO:0037792 carbohydrate metabolism disease biolink:Disease mondo SCTID:20957000 A disease that has its basis in the disruption of carbohydrate metabolic process. SNOMEDCT:20957000 http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolic process disease|disorder of carbohydrate metabolism|disorder of carbohydrate metabolic process|disorder of carbohydrate metabolic process MONDO:0011183 Paget disease of bone 2, early-onset biolink:Disease mondo OMIM:602080|UMLS:C4085251 UMLS:C4085251|http://identifiers.org/omim/602080 http://purl.obolibrary.org/obo/MONDO_0011183 Paget disease of bone 2, early-onset; PDB2|PDB2|Paget disease of bone 2, early-onset BFO:0000020 specifically dependent continuant biolink:OntologyClass mondo A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. http://purl.obolibrary.org/obo/BFO_0000020 MONDO:0011186 Usher syndrome type 1F biolink:Disease mondo UMLS:C1865885|ICD10:H35.5|DOID:0110832|GARD:0010043|OMIM:602083 A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner. DOID:0110832|http://identifiers.org/omim/602083|UMLS:C1865885 http://purl.obolibrary.org/obo/MONDO_0011186 USHER syndrome, type IF|Usher syndrome type IF|USH1F|Usher syndrome, type 1F|USHER syndrome, type IF; USH1F gard_rare MONDO:0011185 Thiel-Behnke corneal dystrophy biolink:Disease mondo UMLS:C1562894|ICD9:371.52|GARD:0009275|SCTID:417065002|Orphanet:98960|DOID:0060455|ICD10:H18.5|OMIM:602082|MESH:C535942 Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. UMLS:C1562894|SNOMEDCT:417065002|ORPHA:98960|MESH:C535942|DOID:0060455|http://identifiers.org/omim/602082 http://purl.obolibrary.org/obo/MONDO_0011185 corneal dystrophy honeycomb shaped|corneal dystrophy of Bowman Layer, type 2|honeycomb corneal dystrophy|corneal dystrophy, Thiel-Behnke type; CDTB|Thiel-Behnke corneal dystrophy|corneal dystrophy of the Bowman layer type 2|Thiel Behnke corneal dystrophy|corneal dystrophy, honeycomb-Shaped|curly fiber corneal dystrophy|CDB2|corneal dystrophy of Bowman layer type 2|corneal dystrophy Thiel Behnke type|TBCD|anterior limiting membrane dystrophy type 2|CDTB|corneal dystrophy honeycomb-shaped|corneal dystrophy, Thiel-Behnke type|Waardenburg-Jonker corneal dystrophy|anterior limiting membrane dystrophy type II|corneal dystrophy of Bowman layer type II gard_rare|ordo_disease HGNC:19286 SCYL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19286 HGNC:20278 NUBPL biolink:OntologyClass mondo http://identifiers.org/hgnc/20278 GO:0044424 obsolete intracellular part biolink:OntologyClass mondo OBSOLETE. Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/GO_0044424 GO:0044421 obsolete extracellular region part biolink:OntologyClass mondo OBSOLETE. Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/GO_0044421 extracellular structure GO:0044422 obsolete organelle part biolink:OntologyClass mondo OBSOLETE. Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0044422 GO:0044420 obsolete extracellular matrix component biolink:OntologyClass mondo OBSOLETE. Any constituent part of the extracellular matrix, the structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as often seen in plants). http://purl.obolibrary.org/obo/GO_0044420 extracellular matrix part GO:0044429 obsolete mitochondrial part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://purl.obolibrary.org/obo/GO_0044429 mitochondrial subcomponent|mitochondrion component GO:0044427 obsolete chromosomal part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a chromosome, a structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/GO_0044427 chromosome component|chromosomal component|chromosome part GO:0044428 obsolete nuclear part biolink:OntologyClass mondo OBSOLETE. Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. http://purl.obolibrary.org/obo/GO_0044428 nuclear subcomponent|nucleus component GO:0044425 obsolete membrane part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. http://purl.obolibrary.org/obo/GO_0044425 HP:0100491 Abnormality of lower limb joint biolink:PhenotypicFeature mondo UMLS:C4020971 http://purl.obolibrary.org/obo/HP_0100491 Abnormality of lower limb joint|Abnormality of the joints of the lower limbs GO:0044433 obsolete cytoplasmic vesicle part biolink:OntologyClass mondo OBSOLETE. Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell. http://purl.obolibrary.org/obo/GO_0044433 GO:0044431 obsolete Golgi apparatus part biolink:OntologyClass mondo OBSOLETE. Any constituent part of the Golgi apparatus, a compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. http://purl.obolibrary.org/obo/GO_0044431 Golgi subcomponent|Golgi component GO:0044438 obsolete microbody part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a microbody, a cytoplasmic organelle, spherical or oval in shape, that is bounded by a single membrane and contains oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/GO_0044438 GO:0044439 obsolete peroxisomal part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/GO_0044439 peroxisome component GO:0044437 obsolete vacuolar part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a vacuole, a closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. http://purl.obolibrary.org/obo/GO_0044437 vacuole component HGNC:19263 LMAN2L biolink:OntologyClass mondo http://identifiers.org/hgnc/19263 HGNC:19261 MTO1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19261 GO:0032414 positive regulation of ion transmembrane transporter activity biolink:OntologyClass mondo Any process that activates or increases the activity of an ion transporter. http://purl.obolibrary.org/obo/GO_0032414 up regulation of ion transporter activity|stimulation of ion transporter activity|up-regulation of ion transporter activity|activation of ion transporter activity|upregulation of ion transporter activity|positive regulation of ion transporter activity GO:0032413 negative regulation of ion transmembrane transporter activity biolink:OntologyClass mondo Any process that stops or reduces the activity of an ion transporter. http://purl.obolibrary.org/obo/GO_0032413 downregulation of ion transporter activity|down regulation of ion transporter activity|inhibition of ion transporter activity|negative regulation of ion transporter activity|down-regulation of ion transporter activity GO:0044445 obsolete cytosolic part biolink:OntologyClass mondo OBSOLETE. Any constituent part of cytosol, that part of the cytoplasm that does not contain membranous or particulate subcellular components. http://purl.obolibrary.org/obo/GO_0044445 cytosol component GO:0044446 obsolete intracellular organelle part biolink:OntologyClass mondo OBSOLETE. A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0044446 GO:0044444 obsolete cytoplasmic part biolink:OntologyClass mondo OBSOLETE. Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://purl.obolibrary.org/obo/GO_0044444 cytoplasm component GO:0044441 obsolete ciliary part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/GO_0044441 flagellar part|microtubule-based flagellum part|flagellum part|cilium part|cilial part|flagellum component GO:0019438 aromatic compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/GO_0019438 aromatic compound formation|aromatic compound biosynthesis|aromatic hydrocarbon biosynthesis|aromatic hydrocarbon biosynthetic process|aromatic compound anabolism|aromatic compound synthesis GO:0044449 obsolete contractile fiber part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a contractile fiber, a fiber composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. http://purl.obolibrary.org/obo/GO_0044449 contractile fibre component|muscle fiber component|muscle fibre component GO:0019439 aromatic compound catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/GO_0019439 aromatic compound catabolism|aromatic compound breakdown|aromatic hydrocarbon catabolism|aromatic hydrocarbon catabolic process|aromatic compound degradation GO:0032412 regulation of ion transmembrane transporter activity biolink:OntologyClass mondo Any process that modulates the activity of an ion transporter. http://purl.obolibrary.org/obo/GO_0032412 regulation of ion transporter activity GO:0032411 positive regulation of transporter activity biolink:OntologyClass mondo Any process that activates or increases the activity of a transporter. http://purl.obolibrary.org/obo/GO_0032411 upregulation of transporter activity|stimulation of transporter activity|up regulation of transporter activity|up-regulation of transporter activity|activation of transporter activity GO:0032410 negative regulation of transporter activity biolink:OntologyClass mondo Any process that stops or reduces the activity of a transporter. http://purl.obolibrary.org/obo/GO_0032410 down-regulation of transporter activity|downregulation of transporter activity|down regulation of transporter activity|inhibition of transporter activity GO:0032409 regulation of transporter activity biolink:OntologyClass mondo Any process that modulates the activity of a transporter. http://purl.obolibrary.org/obo/GO_0032409 GO:0044456 obsolete synapse part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. http://purl.obolibrary.org/obo/GO_0044456 synaptic component GO:0044454 obsolete nuclear chromosome part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a nuclear chromosome, a chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. http://purl.obolibrary.org/obo/GO_0044454 GO:0044455 obsolete mitochondrial membrane part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a mitochondrial membrane, either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. http://purl.obolibrary.org/obo/GO_0044455 GO:0044452 obsolete nucleolar part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. http://purl.obolibrary.org/obo/GO_0044452 nucleolus component GO:0044459 obsolete plasma membrane part biolink:OntologyClass mondo OBSOLETE. Any constituent part of the plasma membrane, the membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://purl.obolibrary.org/obo/GO_0044459 SO:0005855 gene_group biolink:SequenceFeature mondo A collection of related genes. http://purl.obolibrary.org/obo/SO_0005855 gene group NCBITaxon:2509494 Merbecovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2509494 HGNC:20233 COQ6 biolink:OntologyClass mondo http://identifiers.org/hgnc/20233 HGNC:2902 DLG3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2902 GO:0044463 obsolete cell projection part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a cell projection, a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0044463 HGNC:2909 DLL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2909 GO:0044464 obsolete cell part biolink:OntologyClass mondo OBSOLETE. Any constituent part of a cell, the basic structural and functional unit of all organisms. http://purl.obolibrary.org/obo/GO_0044464 protoplast|cellular subcomponent HGNC:2917 DLX4 biolink:OntologyClass mondo http://identifiers.org/hgnc/2917 HGNC:2916 DLX3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2916 HGNC:20249 SPRED1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20249 HGNC:2910 DLL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/2910 HGNC:2918 DLX5 biolink:OntologyClass mondo http://identifiers.org/hgnc/2918 MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations biolink:Disease mondo OMIM:617523|DOID:0080312|UMLS:C4479613 DOID:0080312|UMLS:C4479613|http://identifiers.org/omim/617523 http://purl.obolibrary.org/obo/MONDO_0056797 neurodevelopmental disorder with midbrain and hindbrain malformations; NEDMHM|NEDMHM MONDO:0056798 disorder of appendix biolink:Disease mondo ICD9:543.9|DOID:60000|SCTID:18526009|UMLS:C0267613 A disease or disorder that involves the vermiform appendix. SNOMEDCT:18526009|UMLS:C0267613|DOID:60000 http://purl.obolibrary.org/obo/MONDO_0056798 appendix disease|vermiform appendix disease or disorder|vermiform appendix disease|disorder of appendix|disease of appendix|disorder of vermiform appendix|disease of vermiform appendix|disease or disorder of vermiform appendix|appendiceal disease MONDO:0056799 synovium disease biolink:Disease mondo UMLS:C0263945|SCTID:3519007|ICD9:727.89|ICD9:727.9 A disease or disorder that involves the layer of synovial tissue. UMLS:C0263945|SNOMEDCT:3519007 http://purl.obolibrary.org/obo/MONDO_0056799 layer of synovial tissue disease or disorder|layer of synovial tissue disease|disorder of layer of synovial tissue|disorder of synovium|disease of layer of synovial tissue|disease or disorder of layer of synovial tissue MONDO:0056795 X-linked spermatogenic failure 1 biolink:Disease mondo DOID:0070189|OMIM:305700 http://identifiers.org/omim/305700|DOID:0070189 http://purl.obolibrary.org/obo/MONDO_0056795 spermatogenic failure, X-linked, 1|spermatogenic failure, X-linked, 1; SPGFX1|SPGFX1|Del Castillo syndrome|spermatogenic failure, X-linked, type 1|Sertoli cell-only syndrome|Germinal cell aplasia MONDO:0056796 obstructive nephropathy biolink:Disease mondo DOID:0070314|NCIT:C120902|UMLS:C0149939|SCTID:86249007|ICD9:593.89 Renal damage and impaired renal function secondary to urinary tract obstruction. NCIT:C120902|SNOMEDCT:86249007|DOID:0070314|UMLS:C0149939 http://purl.obolibrary.org/obo/MONDO_0056796 obstructive nephropathy|congenital obstructive nephropathy HGNC:2928 DMD biolink:OntologyClass mondo http://identifiers.org/hgnc/2928 GO:0007417 central nervous system development biolink:OntologyClass mondo The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. http://purl.obolibrary.org/obo/GO_0007417 CNS development GO:0007411 axon guidance biolink:OntologyClass mondo The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. http://purl.obolibrary.org/obo/GO_0007411 axon growth cone guidance|axon pathfinding|axon chemotaxis HGNC:10889 SIX3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10889 HGNC:10892 SIX6 biolink:OntologyClass mondo http://identifiers.org/hgnc/10892 HGNC:10898 SKIV2L biolink:OntologyClass mondo http://identifiers.org/hgnc/10898 HGNC:10896 SKI biolink:OntologyClass mondo http://identifiers.org/hgnc/10896 HGNC:20207 B3GLCT biolink:OntologyClass mondo http://identifiers.org/hgnc/20207 HGNC:10891 SIX5 biolink:OntologyClass mondo http://identifiers.org/hgnc/10891 HGNC:2939 DNA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2939 HGNC:2938 DMXL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2938 HGNC:2933 DMPK biolink:OntologyClass mondo http://identifiers.org/hgnc/2933 HGNC:2932 DMP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2932 GO:0007423 sensory organ development biolink:OntologyClass mondo The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0007423 sense organ development GO:0007420 brain development biolink:OntologyClass mondo The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). http://purl.obolibrary.org/obo/GO_0007420 HGNC:2942 DNAH11 biolink:OntologyClass mondo http://identifiers.org/hgnc/2942 HGNC:19237 NANS biolink:OntologyClass mondo http://identifiers.org/hgnc/19237 GO:0019400 alditol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving alditols, any polyhydric alcohol derived from the acyclic form of a monosaccharide by reduction of its aldehyde or keto group to an alcoholic group. http://purl.obolibrary.org/obo/GO_0019400 alditol metabolism MONDO:0017150 pulmonary arterial hypertension associated with another disease biolink:Disease mondo ICD10:I27.2|Orphanet:275791|UMLS:CN202577|EFO:0009193 Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal. ORPHA:275791|UMLS:CN202577 http://purl.obolibrary.org/obo/MONDO_0017150 secondary PAH|PAH associated with another disease ordo_group_of_disorders MONDO:0017151 pulmonary arterial hypertension associated with connective tissue disease biolink:Disease mondo SCTID:697903007|ICD10:I27.2|UMLS:C3697982|EFO:0009196|Orphanet:275798|ICD9:416.8|UMLS:CN202578 Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease. SNOMEDCT:697903007|UMLS:C3697982|ORPHA:275798|UMLS:CN202578 http://purl.obolibrary.org/obo/MONDO_0017151 PAH associated with connective tissue disease ordo_group_of_disorders MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay biolink:Disease mondo OMIM:618501 http://identifiers.org/omim/618501 http://purl.obolibrary.org/obo/MONDO_0032788 CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY; CASVDD MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 biolink:Disease mondo OMIM:618504 http://identifiers.org/omim/618504 http://purl.obolibrary.org/obo/MONDO_0032789 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71; MRT71|Mental Retardation, Autosomal Recessive 71 MONDO:0005167 fibroma biolink:Disease mondo MESH:D005350|ICD9:215.9|NCIT:C3041|SCTID:424568000|DOID:0050871|ICDO:8810/0|EFO:0002424 A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts. DOID:0050871|MESH:D005350|SNOMEDCT:424568000|NCIT:C3041 http://purl.obolibrary.org/obo/MONDO_0005167 fibroma|fibroma, benign MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency biolink:Disease mondo OMIM:618131|Orphanet:542301 http://identifiers.org/omim/618131|ORPHA:542301 http://purl.obolibrary.org/obo/MONDO_0029134 immunodeficiency 58|immunodeficiency 58; IMD58|IMD58 ordo_disease MONDO:0005166 osteoma (disease) biolink:Disease mondo EFO:0002423|MESH:D010016|HP:0100246|SCTID:302858007|UMLS:C0029440|NCIT:C3296|ICDO:9180/0 A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course. MESH:D010016|SNOMEDCT:302858007|UMLS:C0029440|NCIT:C3296 http://purl.obolibrary.org/obo/MONDO_0005166 osteoma|osteoma, benign MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 biolink:Disease mondo OMIM:618129 http://identifiers.org/omim/618129 http://purl.obolibrary.org/obo/MONDO_0029133 muscular dystrophy, limb-girdle, type 1I|LGMDD4|muscular dystrophy, limb-girdle, autosomal dominant 4; LGMDD4 MONDO:0005169 neoplasm of mature T-cells or NK-cells biolink:Disease mondo ONCOTREE:MTNN|UMLS:C1334640|NCIT:C27909|EFO:0002426 A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells. NCIT:C27909|UMLS:C1334640 http://purl.obolibrary.org/obo/MONDO_0005169 mature T-cell neoplasm|mature T-cell and NK-cell neoplasm|mature T and NK neoplasms MONDO:0029132 Liddle syndrome 3 biolink:Disease mondo OMIM:618126 http://identifiers.org/omim/618126 http://purl.obolibrary.org/obo/MONDO_0029132 LIDLS3|Liddle syndrome 3; LIDLS3 MONDO:0044777 premature ovarian failure 14 biolink:Disease mondo UMLS:CN757793|OMIM:618014|UMLS:CN753759|GTR:AN1172965 UMLS:CN757793|http://identifiers.org/omim/618014|UMLS:CN753759 http://purl.obolibrary.org/obo/MONDO_0044777 GDF9-related primary ovarian insufficiency|premature ovarian failure 14; POF14|POF14 MONDO:0044776 premature ovarian failure 10 biolink:Disease mondo OMIM:612885 Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488). http://identifiers.org/omim/612885 http://purl.obolibrary.org/obo/MONDO_0044776 menopause, natural, Age At, quantitative trait locus 3|Pof10|premature ovarian failure 10; Pof10 MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development biolink:Disease mondo OMIM:618124 http://identifiers.org/omim/618124 http://purl.obolibrary.org/obo/MONDO_0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development; PNRIID|PNRIID MONDO:0005168 neoplasm of immature B and T cells biolink:Disease mondo EFO:0002425 A neoplasm arising from immature B and T cells http://purl.obolibrary.org/obo/MONDO_0005168 MONDO:0005163 simian immunodeficiency virus infection biolink:Disease mondo EFO:0001675 An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus. http://purl.obolibrary.org/obo/MONDO_0005163 Simian immunodeficiency virus caused disease or disorder|Simian immunodeficiency virus disease or disorder|Simian immunodeficiency virus infectious disease MONDO:0029138 developmental and epileptic encephalopathy, 67 biolink:Disease mondo OMIM:618141 http://identifiers.org/omim/618141 http://purl.obolibrary.org/obo/MONDO_0029138 epileptic encephalopathy, early infantile, 67|EIEE67|DEE67|epileptic encephalopathy, early infantile, 67; EIEE67 CHEBI:67012 L-dopa(1-) biolink:ChemicalSubstance mondo A L-alpha-amino acid anion which is the conjugate base of L-dopa, obtained by deprotonation of the carboxy group: major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_67012 (2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate|L-dopa carboxylate MONDO:0029137 deafness, autosomal dominant 74 biolink:Disease mondo OMIM:618140 http://identifiers.org/omim/618140 http://purl.obolibrary.org/obo/MONDO_0029137 DFNA74|deafness, autosomal dominant 74; DFNA74 MONDO:0005162 obsolete influenza infection biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005162 MONDO:0005165 benign neoplasm biolink:Disease mondo EFO:0002422|ICD9:229.8|DOID:0060072|NCIT:C3677|DOID:0060085|DOID:0060084|ICD9:210-229.99|SCTID:20376005|ICD10:D10.D36|ICDO:8000/0|ICD9:229.9 A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. SNOMEDCT:20376005|DOID:0060084|DOID:0060085|DOID:0060072|NCIT:C3677 http://purl.obolibrary.org/obo/MONDO_0005165 organ system benign neoplasm|cell type benign neoplasm|neoplasm (disease), benign|benign neoplasm (disease)|benign neoplasm|benign tumor|benign unclassifiable tumor|neoplasm, benign MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 biolink:Disease mondo OMIM:618138|Orphanet:565837 http://identifiers.org/omim/618138|ORPHA:565837 http://purl.obolibrary.org/obo/MONDO_0029136 muscular dystrophy, limb-girdle, autosomal recessive 23; LGMDR23|laminin subunit alpha 2-related limb-girdle muscular dystrophy R23|LGMDR23 ordo_disease MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 biolink:Disease mondo OMIM:618135 http://identifiers.org/omim/618135 http://purl.obolibrary.org/obo/MONDO_0029135 MDDGC8|muscular dystrophy, limb-girdle, autosomal recessive 24|Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related|muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8; MDDGC8 MONDO:0005164 fibrosarcoma (disease) biolink:Disease mondo ONCOTREE:FIBS|DOID:3355|EFO:0002087|HP:0100244|SCTID:443250000|Orphanet:2030|ICD10:C49.9|ICD9:171.9|ICDO:8810/3|MedDRA:10016632|NCIT:C3043|GARD:0002327|UMLS:C0016057 A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. DOID:3355|MEDDRA:10016632|MESH:D005354|UMLS:C0016057|SNOMEDCT:443250000|NCIT:C3043|ORPHA:2030 http://purl.obolibrary.org/obo/MONDO_0005164 fibrosarcoma, malignant|malignant fibromatous neoplasm|fibrous tissue neoplasm|fibrocytic tumor|fibrosarcoma of soft tissue|fibrosarcoma|fibrosarcoma (excluding infantile fibrosarcoma)|fibrosarcoma - not infantile ordo_disease|gard_rare HGNC:10872 ST3GAL5 biolink:OntologyClass mondo http://identifiers.org/hgnc/10872 MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities biolink:Disease mondo OMIM:618505 http://identifiers.org/omim/618505 http://purl.obolibrary.org/obo/MONDO_0032790 NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; NEDCFSA MONDO:0005161 human papilloma virus infection biolink:Disease mondo UMLS:C0343641|SCTID:240532009|ICD9:079.4|NCIT:C27851|EFO:0001668|COHD:441788 An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth. UMLS:C0343641|NCIT:C27851|SNOMEDCT:240532009 http://purl.obolibrary.org/obo/MONDO_0005161 Human papillomavirus infectious disease|Human papillomavirus caused disease or disorder|Human Papillomavirus infection|Human papilloma Virus infection|Human papillomavirus disease or disorder MONDO:0005160 aortic aneurysm (disease) biolink:Disease mondo DOID:3627|UMLS:C0265012|ICD10:I71.3|UMLS:C0003486|UMLS:C0265010|HP:0004942|ICD10:I71.1|UMLS:C1305122|ICD9:441.5|ICD9:441.6|UMLS:C0741160|EFO:0001666|SCTID:73067008|ICD10:I71.9|ICD10:I71.8|ICD9:441.3|ICD9:441.1|MP:0006278|ICD10:I71.5 A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. SNOMEDCT:73067008|NCIT:C27046|NCIT:C27198|DOID:3627|NCIT:C27299|NCIT:C26697|UMLS:C1305122|UMLS:C0003486|UMLS:C0741160|UMLS:C0265010|UMLS:C0265012 http://purl.obolibrary.org/obo/MONDO_0005160 aortic aneurysm|abdominal aortic aneurysm, ruptured|thoracoabdominal aortic aneurysm, ruptured|ruptured aortic aneurysm|thoracic aortic aneurysm which HAS ruptured|ruptured abdominal aortic aneurysm|ruptured thoracic aortic aneurysm|aortic aneurysm of unspecified site, ruptured|ruptured thoracoabdominal aortic aneurysm|thoracic aortic aneurysm, ruptured|ruptured thoracic aneurysm|ruptured aortic aneurysm NOS MONDO:0029130 polydactyly, postaxial, type A8 biolink:Disease mondo OMIM:618123 http://identifiers.org/omim/618123 http://purl.obolibrary.org/obo/MONDO_0029130 PAPA8|polydactyly, postaxial, type A8; PAPA8 MONDO:0044768 vagus nerve paraganglioma biolink:Disease mondo GARD:0008620|SCTID:253030004|NCIT:C8427|EFO:1000621|UMLS:CN036786 A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia. SNOMEDCT:253030004|UMLS:CN036786|NCIT:C8427 http://purl.obolibrary.org/obo/MONDO_0044768 vagal paraganglioma|vagus nerve paraganglioma|vagal body paraganglioma|paraganglioma of the vagus nerve|paraganglioma of vagus nerve|paraganglioma of vagal body|paraganglioma of the vagal body gard_rare MONDO:0044767 childhood adrenal gland pheochromocytoma biolink:Disease mondo NCIT:C118822|GTR:AN0102113|GARD:0009368|GARD:9368|DOID:0070325|UMLS:CN036354 A rare pheochromocytoma of the adrenal gland that occurs during childhood. UMLS:CN036354|DOID:0070325|NCIT:C118822 http://purl.obolibrary.org/obo/MONDO_0044767 malignant childhood adrenal gland pheochromocytoma|pheochromocytoma, childhood|childhood adrenal gland pheochromocytoma MONDO:0020798 hypoparathyroidism, familial isolated, 2 biolink:Disease mondo OMIM:618883 http://identifiers.org/omim/618883 http://purl.obolibrary.org/obo/MONDO_0020798 hypoparathyroidism, familial isolated, 2; FIH2|FIH2|hypoparathyroidism, familial isolated, 2 MONDO:0030134 oculopharyngodistal myopathy 2 biolink:Disease mondo OMIM:618940 http://identifiers.org/omim/618940 http://purl.obolibrary.org/obo/MONDO_0030134 oculopharyngodistal myopathy 2|OPDM2|OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 MONDO:0032797 myopathy, congenital, with tremor biolink:Disease mondo OMIM:618524 http://identifiers.org/omim/618524 http://purl.obolibrary.org/obo/MONDO_0032797 MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM|Myogenic Tremor MONDO:0017156 pulmonary arterial hypertension associated with chronic hemolytic anemia biolink:Disease mondo ICD10:I27.2|Orphanet:275828|UMLS:C3698315|SCTID:697908003|ICD9:416.8|EFO:0009195 Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia. UMLS:C3698315|ORPHA:275828|SNOMEDCT:697908003 http://purl.obolibrary.org/obo/MONDO_0017156 PAH associated with chronic hemolytic anemia ordo_group_of_disorders MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia biolink:Disease mondo SCTID:697910001|UMLS:CN202580|Orphanet:275837|UMLS:C3698136|ICD10:I27.2|ICD9:416.8 UMLS:C3698136|ORPHA:275837|UMLS:CN202580|SNOMEDCT:697910001 http://purl.obolibrary.org/obo/MONDO_0017157 PH due to lung disease and/or hypoxia|PH owing to lung disease and/or hypoxia|pulmonary hypertension due to lung disease and/or hypoxia ordo_group_of_disorders MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features biolink:Disease mondo OMIM:618527 http://identifiers.org/omim/618527 http://purl.obolibrary.org/obo/MONDO_0032798 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES; IKSHD MONDO:0032795 intellectual developmental disorder 59 biolink:Disease mondo OMIM:618522 http://identifiers.org/omim/618522 http://purl.obolibrary.org/obo/MONDO_0032795 INTELLECTUAL DEVELOPMENTAL DISORDER 59; MRD59|Mental Retardation, Autosomal Dominant 59 MONDO:0017158 pulmonary hypertension with unclear multifactorial mechanism biolink:Disease mondo Orphanet:275844 ORPHA:275844 http://purl.obolibrary.org/obo/MONDO_0017158 PH with unclear multifactorial mechanism ordo_group_of_disorders MONDO:0017159 syndrome with pulmonary hypertension as a major feature biolink:Disease mondo UMLS:CN202581|Orphanet:275853 ORPHA:275853|UMLS:CN202581 http://purl.obolibrary.org/obo/MONDO_0017159 ordo_group_of_disorders|obsoletion_candidate MONDO:0032796 hyper-ige recurrent infection syndrome 4, autosomal recessive biolink:Disease mondo OMIM:618523 http://identifiers.org/omim/618523 http://purl.obolibrary.org/obo/MONDO_0032796 HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE; HIES4 MONDO:0017152 pulmonary arterial hypertension associated with congenital heart disease biolink:Disease mondo UMLS:C3697119|Orphanet:275803|ICD10:I27.2|SCTID:697905000|EFO:0009054|ICD9:416.8|UMLS:CN243982 Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery. UMLS:C3697119|ORPHA:275803|UMLS:CN243982|SNOMEDCT:697905000 http://purl.obolibrary.org/obo/MONDO_0017152 PAH associated with congenital heart disease ordo_group_of_disorders MONDO:0032793 O'Donnell-Luria-Rodan syndrome biolink:Disease mondo OMIM:618512 http://identifiers.org/omim/618512 http://purl.obolibrary.org/obo/MONDO_0032793 O'Donnell-Luria-Rodan syndrome; ODLURO MONDO:0017153 pulmonary arterial hypertension associated with HIV infection biolink:Disease mondo Orphanet:275808|ICD10:I27.2|SCTID:697904001|UMLS:C3697673|ICD9:416.8|EFO:0009194 Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection. SNOMEDCT:697904001|UMLS:C3697673|ORPHA:275808 http://purl.obolibrary.org/obo/MONDO_0017153 PAH associated with HIV infaction ordo_group_of_disorders MONDO:0032794 leber congenital amaurosis 19 biolink:Disease mondo OMIM:618513 http://identifiers.org/omim/618513 http://purl.obolibrary.org/obo/MONDO_0032794 LEBER CONGENITAL AMAUROSIS 19; LCA19 MONDO:0017154 pulmonary arterial hypertension associated with portal hypertension biolink:Disease mondo UMLS:C1868851|Orphanet:275813|ICD10:I27.2|EFO:0009197|SCTID:445237003 Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension. UMLS:C1868851|SNOMEDCT:445237003|ORPHA:275813 http://purl.obolibrary.org/obo/MONDO_0017154 POPH|Portopulmonary hypertension|PAH associated with portal hypertension ordo_group_of_disorders MONDO:0032791 Coffin-Siris syndrome 10 biolink:Disease mondo OMIM:618506 http://identifiers.org/omim/618506 http://purl.obolibrary.org/obo/MONDO_0032791 COFFIN-SIRIS SYNDROME 10; CSS10 MONDO:0032792 neuropathy, hereditary motor and sensory, type VIc, with optic atrophy biolink:Disease mondo OMIM:618511 http://identifiers.org/omim/618511 http://purl.obolibrary.org/obo/MONDO_0032792 HMSN6C|CMT 6C|CMT6C|HMSN 6C|Charcot-Marie-Tooth Disease, Type 6C|neuropathy, hereditary motor and sensory, type VIc, with optic atrophy; HMSN6C MONDO:0017155 pulmonary arterial hypertension associated with schistosomiasis biolink:Disease mondo SCTID:697907008|ICD10:I27.2|Orphanet:275823|UMLS:C3697477|EFO:0009198|ICD9:416.8 Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis. UMLS:C3697477|ORPHA:275823|SNOMEDCT:697907008 http://purl.obolibrary.org/obo/MONDO_0017155 PAH associated with schistosomiasis ordo_group_of_disorders MONDO:0017140 L1 syndrome biolink:Disease mondo ICD10:Q04.8|GARD:0012524|Orphanet:275543|UMLS:CN118845 L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. UMLS:CN118845|ORPHA:275543 http://purl.obolibrary.org/obo/MONDO_0017140 corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome|crash syndrome|L1CAM syndrome ordo_malformation_syndrome HGNC:20202 CACNA2D4 biolink:OntologyClass mondo http://identifiers.org/hgnc/20202 MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) biolink:Disease mondo OMIM:618528 http://identifiers.org/omim/618528 http://purl.obolibrary.org/obo/MONDO_0032799 MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE); MTDPS16 MONDO:0020797 decompression sickness biolink:Disease mondo UMLS:C0011119|ICD9:993.3|SCTID:89684003|MESH:D003665 A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death. MESH:D003665|UMLS:C0011119|SNOMEDCT:89684003 http://purl.obolibrary.org/obo/MONDO_0020797 Decompression sickness|Disease, Caisson|decompression sickness|Bends|bends|The bends|Caisson Disease|CAISSON DIS|the bends|Compressed-air disease|compressed-air disease|Rapture of the deep syndrome|Compressed air disease|Caisson disease|caisson disease|Diseases, Caisson|Decompression Sickness|Divers' palsy|divers' palsy|Divers' paralysis|Caisson Diseases|divers' paralysis|Sickness, Decompression MONDO:0044786 solid pseudopapillary neoplasm of the pancreas biolink:Disease mondo NCIT:C37212|ONCOTREE:SPN A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases. NCIT:C37212 http://purl.obolibrary.org/obo/MONDO_0044786 solid pseudopapillary tumor of the pancreas|solid pseudopapillary neoplasm of the pancreas|Frantz tumor MONDO:0005178 osteoarthritis biolink:Disease mondo ICD10:M19|HP:0002758|GARD:0011929|NCIT:C3293|ICD9:715.3|COHD:80180|DOID:8398|EFO:0002506|MESH:D010003 A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity. MESH:D010003|DOID:8398|NCIT:C3293 http://purl.obolibrary.org/obo/MONDO_0005178 degenerative arthritis|hypertrophic arthritis|osteoarthrosis|osteoarthrosis and allied disorder|degenerative joint disease MONDO:0020796 Silver-Russell syndrome 1 biolink:Disease mondo OMIM:180860 http://identifiers.org/omim/180860 http://purl.obolibrary.org/obo/MONDO_0020796 SRS1 MONDO:0044785 desmoplastic melanoma biolink:Disease mondo ONCOTREE:DESM|NCIT:C37257 A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion. NCIT:C37257 http://purl.obolibrary.org/obo/MONDO_0044785 desmoplastic melanoma|desmoplastic cutaneous (skin) melanoma MONDO:0005177 serous cystadenoma biolink:Disease mondo NCIT:C3783|ICDO:8441/0|EFO:0002504 A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion. NCIT:C3783 http://purl.obolibrary.org/obo/MONDO_0005177 serous cystadenoma|serous cystoma MONDO:0020795 Silver-Russell syndrome 5 biolink:Disease mondo OMIM:618908 http://identifiers.org/omim/618908 http://purl.obolibrary.org/obo/MONDO_0020795 SRS5|SILVER-RUSSELL SYNDROME 5; SRS5 MONDO:0044788 perihilar intrahepatic cholangiocarcinoma biolink:Disease mondo ONCOTREE:PHCH|NCIT:C96804 An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts. NCIT:C96804 http://purl.obolibrary.org/obo/MONDO_0044788 perihilar ICC|perihilar cholangiocarcinoma|perihilar bile duct carcinoma|perihilar intrahepatic cholangiocarcinoma MONDO:0044787 nasal cavity and paranasal sinus squamous cell carcinoma biolink:Disease mondo NCIT:C68611|UMLS:C0280332 A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group. NCIT:C68611|UMLS:C0280332 http://purl.obolibrary.org/obo/MONDO_0044787 nasal cavity and paranasal sinus squamous cell carcinoma|nasal cavity and paranasal sinus squamous cell cancer MONDO:0020794 colorectal medullary carcinoma biolink:Disease mondo NCIT:C43590 A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. NCIT:C43590 http://purl.obolibrary.org/obo/MONDO_0020794 colorectal medullary carcinoma HGNC:10879 STIL biolink:OntologyClass mondo http://identifiers.org/hgnc/10879 MONDO:0005179 ovarian adenoma benign biolink:Disease mondo EFO:0002507 A benign adenoma of ovary http://purl.obolibrary.org/obo/MONDO_0005179 MONDO:0005174 acute hypotension biolink:Disease mondo EFO:0002497 Acute form of hypotension (disease). http://purl.obolibrary.org/obo/MONDO_0005174 acute hypotension (disease)|hypotension (disease), acute MONDO:0044782 esophageal ulcer biolink:Disease mondo HP:0004791|NCIT:C26950 An ulcerated lesion in the esophageal wall. NCIT:C26950 http://purl.obolibrary.org/obo/MONDO_0044782 esophagus ulcer|esophageal ulcer|esophagus ulcer disease|ulcer disease of esophagus MONDO:0020793 oculopharyngodistal myopathy 1 biolink:Disease mondo OMIM:164310 http://identifiers.org/omim/164310 http://purl.obolibrary.org/obo/MONDO_0020793 faciooculolaryngopharyngeal myopathy with distal and respiratory involvement|oculopharyngodistal myopathy 1; OPDM1|oculopharyngodistal myopathy|OPDM1 MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive biolink:Disease mondo SCTID:236380004|UMLS:C0403396|NCIT:C122797 Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. SNOMEDCT:236380004|NCIT:C122797|UMLS:C0403396 http://purl.obolibrary.org/obo/MONDO_0044781 nephrotic syndrome of childhood - steroid sensitive|steroid-sensitive nephrotic syndrome|steroid-responsive nephrotic syndrome MONDO:0005173 actinic keratosis (disease) biolink:Disease mondo EFO:0002496|ICD10:L57.0|MESH:D055623|HP:0025127|NCIT:C3148|UMLS:C4282032|SCTID:398838000|ICD9:702.0|ICD9:702.19|UMLS:C0022602|DOID:8866 A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants. UMLS:C4282032|UMLS:C0022602|SNOMEDCT:398838000|NCIT:C3148|DOID:8866|MESH:D055623 http://purl.obolibrary.org/obo/MONDO_0005173 actinic (solar) keratosis|SK - solar keratosis|solar keratosis|senile keratosis|Senile keratosis|Senile hyperkeratosis|actinic keratosis MONDO:0020792 dwarfism with tall vertebrae biolink:Disease mondo OMIM:126950 http://identifiers.org/omim/126950 http://purl.obolibrary.org/obo/MONDO_0020792 n_of_one MONDO:0005176 benign insulitis biolink:Disease mondo PMID:20545565|EFO:0002502|Wikipedia:Insulitis A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation. http://purl.obolibrary.org/obo/MONDO_0005176 MONDO:0044784 myxoma biolink:Disease mondo SCTID:404082003|ONCOTREE:MYXO|NCIT:C6577 A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation. NCIT:C6577|SNOMEDCT:404082003 http://purl.obolibrary.org/obo/MONDO_0044784 Myxoma|MYXOMA, BENIGN MONDO:0020791 corneal dystrophy, Meesmann, 1 biolink:Disease mondo OMIM:122100 http://identifiers.org/omim/122100 http://purl.obolibrary.org/obo/MONDO_0020791 Meesmann Corneal Dystrophy|Corneal Dystrophy, Juvenile Epithelial, of Meesmann|CORNEAL DYSTROPHY, MEESMANN, 1; MECD1|Corneal Dystrophy, Meesmann Epithelial MONDO:0005175 aggressive insulitis biolink:Disease mondo EFO:0002498 Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes. http://purl.obolibrary.org/obo/MONDO_0005175 MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 biolink:Disease mondo OMIM:607313 http://identifiers.org/omim/607313 http://purl.obolibrary.org/obo/MONDO_0020790 Ophthalmoplegia, Progressive External, and Scoliosis|gaze palsy, familial horizontal, with progressive scoliosis 1; HGPPS1|HGPPS|gaze palsy, familial horizontal, with progressive scoliosis 1 MONDO:0044783 solid papillary breast carcinoma biolink:Disease mondo ONCOTREE:SPC|NCIT:C6870 A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma. NCIT:C6870 http://purl.obolibrary.org/obo/MONDO_0044783 solid Papillary breast carcinoma|solid Papillary carcinoma of the breast MONDO:0005170 myeloid neoplasm biolink:Disease mondo UMLS:C2939461|EFO:0002427|DOID:0070004|ONCOTREE:MYELOID|ICDO:9975/1|NCIT:C9290 Proliferation of myeloid cells originating from a primitive stem cell. DOID:0070004|UMLS:C2939461|NCIT:C9290 http://purl.obolibrary.org/obo/MONDO_0005170 myeloid neoplasm|myeloma|myeloid tumor|myeloid malignancy MONDO:0005172 skeletal system disease biolink:Disease mondo EFO:0002461|SCTID:88230002|UMLS:C0263661 A disease involving the skeletal system. UMLS:C0263661|SNOMEDCT:88230002 http://purl.obolibrary.org/obo/MONDO_0005172 disorder of skeletal system|disease of bone and/or joint|disorder of skeletal system|skeletal system disease|disease or disorder of skeletal system|osteoarthropathy|disease of skeletal system|skeletal system disease or disorder MONDO:0005171 obsolete chronic myeloproliferative disorder biolink:Disease mondo Chronic form of myeloproliferative neoplasm. http://purl.obolibrary.org/obo/MONDO_0005171 HGNC:10882 SIM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10882 MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension biolink:Disease mondo Orphanet:275786|ICD10:I27.2|EFO:0009192|UMLS:C0340544 Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal. UMLS:C0340544|ORPHA:275786 http://purl.obolibrary.org/obo/MONDO_0017149 drug- or toxin-induced PAH ordo_group_of_disorders HGNC:10887 SIX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10887 MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma biolink:Disease mondo Orphanet:86893|NCIT:C7258|MEDGEN:233758|ONCOTREE:NLPHL|UMLS:C1334968|ICD10:C81.0 A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008) UMLS:C2239290|UMLS:C1334968|ORPHA:86893|NCIT:C7258 http://purl.obolibrary.org/obo/MONDO_0044778 nodular lymphocyte predominant Hodgkin lymphoma|NLPHL|nodular lymphocyte-predominant Hodgkin lymphoma|Hodgkin lymphoma nodular LP, NOS|Hodgkin lymphoma nodular lymphocyte predominant type, NOS|nodular lymphocyte predominant Hodgkin's lymphoma MONDO:0020789 pseudo-TORCH syndrome 1 biolink:Disease mondo OMIM:251290 http://identifiers.org/omim/251290 http://purl.obolibrary.org/obo/MONDO_0020789 pseudo-TORCH syndrome 1; PTORCH1|pseudo-TORCH syndrome|PTORCH1 MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 biolink:Disease mondo OMIM:618314 http://identifiers.org/omim/618314 http://purl.obolibrary.org/obo/MONDO_0020788 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2 MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 biolink:Disease mondo OMIM:616418 http://identifiers.org/omim/616418 http://purl.obolibrary.org/obo/MONDO_0020787 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1; HOMGSMR1|HOMGSMR1 MONDO:0017145 beta-thalassemia and related diseases biolink:Disease mondo ICD10:D56.1|UMLS:CN202571|Orphanet:275749 ORPHA:275749|UMLS:CN202571 http://purl.obolibrary.org/obo/MONDO_0017145 ordo_group_of_disorders MONDO:0017146 sickle cell disease and related diseases biolink:Disease mondo ICD10:D57.0|Orphanet:275752|UMLS:CN202572|ICD10:D57.8|ICD10:D57.3|ICD10:D57.2|ICD10:D57.1 ORPHA:275752|UMLS:CN202572 http://purl.obolibrary.org/obo/MONDO_0017146 ordo_group_of_disorders HGNC:19218 PLCZ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19218 MONDO:0017147 idiopathic pulmonary arterial hypertension biolink:Disease mondo MedDRA:10065151|ICD9:416.0|UMLS:CN202574|ICD10:I27.0|UMLS:C3203102|Orphanet:275766|SCTID:697898008 Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. SNOMEDCT:697898008|UMLS:C3203102|ORPHA:275766|UMLS:CN202574|MEDDRA:10065151 http://purl.obolibrary.org/obo/MONDO_0017147 IPAH|primary pulmonary arterial hypertension ordo_etiological_subtype MONDO:0017148 heritable pulmonary arterial hypertension biolink:Disease mondo SCTID:697897003|UMLS:CN202575|NCIT:C121945|ICD10:I27.0|COHD:44783618|OMIMPS:178600|Orphanet:275777 Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. NCIT:C121945|SNOMEDCT:697897003|ORPHA:275777|UMLS:CN202575 http://purl.obolibrary.org/obo/MONDO_0017148 hereditary pulmonary arterial hypertension|familial pulmonary arterial hypertension|HpaH|FPAH ordo_etiological_subtype MONDO:0017141 hemorrhagic disorder due to a constitutional thrombocytopenia biolink:Disease mondo Orphanet:275729|UMLS:CN227098 UMLS:CN227098|ORPHA:275729 http://purl.obolibrary.org/obo/MONDO_0017141 rare bleeding disorder due to a constitutional thrombocytopenia|rare coagulopathy due to a constitutional thrombocytopenia|rare coagulopathy due to a quantitative platelet defect|rare bleeding disorder due to a quantitative platelet defect|rare hemorrhagic disorder due to a constitutional thrombocytopenia|rare hemorrhagic disorder due to a quantitative platelet defect obsoletion_candidate|ordo_group_of_disorders MONDO:0017142 hemorrhagic disorder due to a qualitative platelet defect biolink:Disease mondo ICD10:D69.8|UMLS:CN227099|Orphanet:275736 ORPHA:275736|UMLS:CN227099 http://purl.obolibrary.org/obo/MONDO_0017142 rare hemorrhagic disorder due to a qualitative platelet defect|rare hemorrhagic disorder due to a constitutional thrombopathy|rare bleeding disorder due to a qualitative platelet defect|rare coagulopathy due to a qualitative platelet defect|rare bleeding disorder due to a constitutional thrombopathy|rare coagulopathy due to a constitutional thrombopathy ordo_group_of_disorders|obsoletion_candidate MONDO:0017143 genetic infertility biolink:Disease mondo Orphanet:275742 Genetic infertility. ORPHA:275742 http://purl.obolibrary.org/obo/MONDO_0017143 genetic infertility|hereditary infertility disorder ordo_group_of_disorders MONDO:0017144 alpha-thalassemia and related diseases biolink:Disease mondo UMLS:CN202570|ICD10:D56.0|Orphanet:275745 ORPHA:275745|UMLS:CN202570 http://purl.obolibrary.org/obo/MONDO_0017144 ordo_group_of_disorders MONDO:0019791 recessive mitochondrial ataxia syndrome biolink:Disease mondo Orphanet:94125|UMLS:CN206743|EFO:0008816|ICD10:G11.8 ORPHA:94125|UMLS:CN206743 http://purl.obolibrary.org/obo/MONDO_0019791 MIRAS ordo_disease MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma biolink:Disease mondo NCIT:C3828|SCTID:274902006|Orphanet:529852 A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor. NCIT:C3828|ORPHA:529852|SNOMEDCT:274902006 http://purl.obolibrary.org/obo/MONDO_0044791 carcinoma of liver and intrahepatic biliary tract|carcinoma of the liver and intrahepatic biliary tract|combined hepatocellular carcinoma and cholangiocarcinoma|liver and intrahepatic biliary tract carcinoma|combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)|combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)|Cholangiohepatoma|Hepatocholangiocarcinoma|Mixed hepatocellular cholangiocarcinoma ordo_disease MONDO:0019790 neuroleptic malignant syndrome biolink:Disease mondo NCIT:C94829|ICD10:G21.0|MESH:D009459|ICD9:333.92|UMLS:C0027849|MedDRA:10029282|SCTID:15244003|DOID:14464|EFO:1001379|GARD:0007195|Orphanet:94093|COHD:379802 Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness. DOID:14464|MEDDRA:10029282|SNOMEDCT:15244003|ORPHA:94093|MESH:D009459|UMLS:C0027849|NCIT:C94829 http://purl.obolibrary.org/obo/MONDO_0019790 NMS gard_rare|ordo_disease MONDO:0044790 obsolete congenital melanocytic nevus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044790 MONDO:0005149 pulmonary hypertension biolink:Disease mondo SCTID:70995007|ICD10:I27.2|DOID:6432|EFO:0001361|MESH:D006976 Increased pressure within the pulmonary circulation due to lung or heart disorder. DOID:6432|MESH:D006976|NCIT:C3120|SNOMEDCT:70995007 http://purl.obolibrary.org/obo/MONDO_0005149 MONDO:0005148 type 2 diabetes mellitus biolink:Disease mondo MESH:D003924|COHD:201826|DOID:9352|EFO:0001360|NCIT:C26747|OMIM:125853|UMLS:CN244395|ICD10:E11|SCTID:44054006|KEGG:04930 A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. UMLS:CN244395|MESH:D003924|http://identifiers.org/omim/125853|SNOMEDCT:44054006|DOID:9352|NCIT:C26747 http://purl.obolibrary.org/obo/MONDO_0005148 diabetes mellitus, type 2|noninsulin-dependent diabetes mellitus|non-insulin dependent diabetes|NIDDM|diabetes mellitus, noninsulin-dependent|non-insulin-dependent diabetes mellitus|noninsulin dependent diabetes|diabetes mellitis type 2|non-insulin dependent diabetes mellitus|type II diabetes|adult onset diabetes|diabetes mellitis type II|insulin resistance, susceptibility to|diabetes mellitus, type 2, protection against|type 2 diabetes mellitus|maturity-onset diabetes|diabetes mellitus, noninsulin-dependent; NIDDM|adult-onset diabetes|type II diabetes mellitus|type 2 diabetes|T2DM - type 2 diabetes mellitus|type 2 diabetes mellitus non-insulin dependent|diabetes, type 2 MONDO:0044797 desmoplastic nevus biolink:Disease mondo NCIT:C4497|UMLS:C0346098 A benign melanocytic nevus characterized by the presence of desmoplastic stroma. NCIT:C4497|UMLS:C0346098 http://purl.obolibrary.org/obo/MONDO_0044797 Desmoplastic Nevus MONDO:0020786 obsolete short sleep, familial natural, 2 biolink:Disease mondo OMIM:618591 http://identifiers.org/omim/618591 http://purl.obolibrary.org/obo/MONDO_0020786 SHORT SLEEP, FAMILIAL NATURAL, 2; FNSS2 MONDO:0005145 sporadic amyotrophic lateral sclerosis biolink:Disease mondo EFO:0001357 Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history. http://purl.obolibrary.org/obo/MONDO_0005145 FOODON:00001092 vertebrate animal food product biolink:OntologyClass mondo A food product which is derived from or produced by an animal that has a vertibrae. http://purl.obolibrary.org/obo/FOODON_00001092 MONDO:0020785 capillary malformation-arteriovenous malformation 2 biolink:Disease mondo OMIM:618196 http://identifiers.org/omim/618196 http://purl.obolibrary.org/obo/MONDO_0020785 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2 MONDO:0044796 spindle cell nevus biolink:Disease mondo SCTID:253038006|NCIT:C66758 A nevus characterized by the presence of spindle-shaped melanocytes. NCIT:C66758|SNOMEDCT:253038006 http://purl.obolibrary.org/obo/MONDO_0044796 spindle cell nevus MONDO:0005144 familial amyotrophic lateral sclerosis biolink:Disease mondo EFO:0001356|OMIMPS:105400 An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0005144 hereditary amyotrophic lateral sclerosis HGNC:10848 SHH biolink:OntologyClass mondo http://identifiers.org/hgnc/10848 FOODON:00001093 cereal grain food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001093 MONDO:0005147 type 1 diabetes mellitus biolink:Disease mondo DOID:9744|EFO:0001359|MESH:D003922|ICD10:E10|KEGG:04940|COHD:201254|NCIT:C2986|SCTID:46635009 A chronic condition characterized by minimal or absent production of insulin by the pancreas. MESH:D003922|NCIT:C2986|SNOMEDCT:46635009|DOID:9744 http://purl.obolibrary.org/obo/MONDO_0005147 insulin dependent diabetes|type I diabetes|IDDM|insulin dependent diabetes mellitus|diabetes mellitis type 1|type I diabetes mellitus|juvenile diabetes|type 1 diabetes|immune mediated diabetes|diabetes mellitis type I|insulin-dependent diabetes mellitus MONDO:0020784 obsolete short sleep, familial natural, 1 biolink:Disease mondo OMIM:612975 http://identifiers.org/omim/612975 http://purl.obolibrary.org/obo/MONDO_0020784 SHORT SLEEP, FAMILIAL NATURAL, 1; FNSS1|Short Sleep Phenotype MONDO:0005146 post-traumatic stress disorder biolink:Disease mondo DOID:2055|ICD9:309.81|EFO:0001358|MESH:D013313|NCIT:C3389|SCTID:47505003|NIFSTD:birnlex_12679|ICD10:F43.10|ICD10:F43.1 An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. MESH:D013313|SNOMEDCT:47505003|DOID:2055|NCIT:C3389 http://purl.obolibrary.org/obo/MONDO_0005146 traumatic neurosis|PTSD|post-traumatic stress disorder|combat neurosis MONDO:0020783 capillary malformation-arteriovenous malformation 1 biolink:Disease mondo OMIM:608354 http://identifiers.org/omim/608354 http://purl.obolibrary.org/obo/MONDO_0020783 Capillary Malformation-Arteriovenous Malformation|CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1 MONDO:0044793 spitz nevus biolink:Disease mondo NCIT:C27007|GARD:0010412|ICDO:8770/0 A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis. NCIT:C27007 http://purl.obolibrary.org/obo/MONDO_0044793 spitz naevus|juvenile nevus|benign juvenile melanoma|spitz nevi|spitz nevus|spindle and/ or epithelioid cell Nevus gard_rare MONDO:0020782 chronic gingivitis biolink:Disease mondo SCTID:72621003|UMLS:C0008684|ICD9:523.1|NCIT:C34474|ICD9:523.10 Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth. SNOMEDCT:72621003|NCIT:C34474|UMLS:C0008684 http://purl.obolibrary.org/obo/MONDO_0020782 Chronic gingivitis|chronic gingivitis|Chronic Gingivitis MONDO:0005141 Pseudomonas infection biolink:Disease mondo SCTID:63398001|EFO:0001076|ICD9:041.7|MESH:D011552 Infections with bacteria of the genus pseudomonas. MESH:D011552|SNOMEDCT:63398001 http://purl.obolibrary.org/obo/MONDO_0005141 Pseudomonas disease or disorder|Pseudomonas infectious disease|Pseudomonas caused disease or disorder MONDO:0005140 ovarian carcinoma biolink:Disease mondo DOID:4001|EFO:0001075|NCIT:C4908 A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002 DOID:4001|NCIT:C4908 http://purl.obolibrary.org/obo/MONDO_0005140 ovarian epithelial cancer|ovarian cancer|carcinoma of the ovary|carcinoma of ovary|ovary carcinoma|ovarian carcinoma|epithelial ovarian cancer MONDO:0044792 large congenital melanocytic nevus biolink:Disease mondo UMLS:C1318558|ICD10:Q82.5|SCTID:398696001|Orphanet:626|ONCOTREE:SKCN|MedDRA:10072036|NCIT:C3944|UMLS:C1842036|OMIM:137550 A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. SNOMEDCT:398696001|NCIT:C3944|http://identifiers.org/omim/137550|UMLS:C1842036|ORPHA:626|MEDDRA:10072036|UMLS:C1318558 http://purl.obolibrary.org/obo/MONDO_0044792 congenital pigmented Nevus of skin|congenital pigmented Nevus of the skin|congenital melanocytic Nevus of skin|congenital melanocytic Nevus of the skin|Giant congenital melanocytic nevus|Giant Congenital pigmented Nevus|melanocytic NEVUS syndrome, CONGENITAL; CMNS|Giant pigmented hairy nevus|congenital melanocytic nevi|Giant pigmented hairy Nevus|congenital pigmented skin Nevus|congenital melanocytic Nevus|pigmented moles|Nevus spilus|congenital Nevus of skin|congenital nevus|spitz Nevus|LCMN|GMN|congenital Nevus of the skin|congenital pigmented melanocytic Nevus|congenital skin Nevus|CMNS|congenital pigmented nevus ordo_disease MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 biolink:Disease mondo EFO:0009158|Orphanet:555407|OMIM:617186 ORPHA:555407|http://identifiers.org/omim/617186 http://purl.obolibrary.org/obo/MONDO_0020781 NAD(P)HX epimerase deficiency|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1 MONDO:0020780 cone-rod dystrophy and hearing loss 2 biolink:Disease mondo OMIM:618358 http://identifiers.org/omim/618358 http://purl.obolibrary.org/obo/MONDO_0020780 CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2 MONDO:0044795 epithelioid cell nevus biolink:Disease mondo UMLS:C0259820|NCIT:C66757 A nevus characterized by the presence of large epithelioid melanocytes. NCIT:C66757|UMLS:C0259820 http://purl.obolibrary.org/obo/MONDO_0044795 epithelioid cell nevus MONDO:0005143 Pseudomonas aeruginosa PA14 infection biolink:Disease mondo EFO:0001078 A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14. http://purl.obolibrary.org/obo/MONDO_0005143 MONDO:0005142 Pseudomonas aeruginosa CF5 infection biolink:Disease mondo EFO:0001077 A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5. http://purl.obolibrary.org/obo/MONDO_0005142 MONDO:0044794 benign melanocytic skin nevus biolink:Disease mondo UMLS:C1456781|NCIT:C7571 A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus. NCIT:C7571|UMLS:C1456781 http://purl.obolibrary.org/obo/MONDO_0044794 benign skin nevus|benign melanocytic nevus of skin|benign melanocytic nevus of the skin|benign melanocytic nevus|benign melanocytic skin nevus|benign nevus of skin|benign nevus of the skin|benign mole NCBITaxon:140693 Pulicomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_140693 MONDO:0020779 cartilage development disorder biolink:Disease mondo ICD9:756.4|NCIT:C34466|ICD9:756.9|SCTID:67988000|UMLS:C0008449 Any dysfunction in the growth of cartilage. NCIT:C34466|UMLS:C0008449|SNOMEDCT:67988000 http://purl.obolibrary.org/obo/MONDO_0020779 cartilage development disorder|Congenital anomaly of cartilage|chondrodystrophy|abnormal development of cartilage|congenital anomaly of cartilage|Cartilage Development Disorder|chondrodystrophy|Chondrodystrophy|Abnormal development of cartilage MONDO:0017138 Opitz G/BBB syndrome biolink:Disease mondo Orphanet:2745|NCIT:C125487|KEGG:H00583|UMLS:CN202554|SCTID:81771002|OMIMPS:300000|ICD9:758.89|DOID:0050780|ICD10:Q87.8|GARD:0000193 Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS). UMLS:CN202554|ORPHA:2745|SNOMEDCT:81771002|DOID:0050780|NCIT:C125487 http://purl.obolibrary.org/obo/MONDO_0017138 hypertelorism hypospadias syndrome|hypertelorism with esophageal abnormality and hypospadias|Opitz GBBB syndrome|Opitz-GBBB syndrome|hypertelorism-oesophageal abnormality-hypospadias syndrome|BBB syndrome|Opitz syndrome|telecanthus with associated abnormalities|hypospadias-hypertelorism syndrome|Opitz G/BBB syndrome|G syndrome|Opitz BBBG syndrome|Opitz-Frias syndrome|Opitz-G syndrome, type 2|hypospadias-dysphagia syndrome|hypospadias-dysphagia, syndrome|Opitz G syndrome|GBBB syndrome ordo_inheritance_inconsistent|gard_rare|ordo_malformation_syndrome MONDO:0017139 oromandibular-limb hypogenesis syndrome biolink:Disease mondo UMLS:CN202556|ICD10:Q87.5|GARD:0004116|Orphanet:2749 Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). UMLS:CN202556|ORPHA:2749 http://purl.obolibrary.org/obo/MONDO_0017139 oro-mandibular-limb hypogenesis syndrome|Oroacral syndrome ordo_group_of_disorders MONDO:0020778 cone-rod dystrophy and hearing loss 1 biolink:Disease mondo OMIM:617236 http://identifiers.org/omim/617236 http://purl.obolibrary.org/obo/MONDO_0020778 CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1|Crdhl MONDO:0044789 digital papillary eccrine carcinoma biolink:Disease mondo NCIT:C27534 An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs. NCIT:C27534 http://purl.obolibrary.org/obo/MONDO_0044789 papillary eccrine carcinoma of digit|digital papillary eccrine carcinoma|papillary digital eccrine carcinoma|digital papillary carcinoma|digit papillary eccrine carcinoma|digital papillary carcinoma of skin MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 biolink:Disease mondo OMIM:618324 http://identifiers.org/omim/618324 http://purl.obolibrary.org/obo/MONDO_0020777 CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2; CDGF2 MONDO:0020776 chlamydiaceae infections biolink:Disease mondo UMLS:C0008153|MESH:D002694|EFO:1001288 Infections with bacteria of the family CHLAMYDIACEAE. MESH:D002694|UMLS:C0008153 http://purl.obolibrary.org/obo/MONDO_0020776 Infections, Chlamydiaceae|Infection, Chlamydiaceae|Chlamydiaceae Infections|Chlamydiaceae Infection MONDO:0019797 acrodysostosis biolink:Disease mondo SCTID:66758006|ICD9:756.59|GARD:0005724|UMLS:C0220659|MESH:C538179|DOID:14669|Orphanet:950|ICD10:Q75.4|OMIMPS:101800 Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay. DOID:14669|ORPHA:950|SNOMEDCT:66758006|UMLS:C0220659|MESH:C538179 http://purl.obolibrary.org/obo/MONDO_0019797 peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome|Arkless-Graham syndrome|Maroteaux-Malamut syndrome|nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome|acrodysplasia ordo_malformation_syndrome|gard_rare MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome biolink:Disease mondo Orphanet:2722|UMLS:CN202534|GARD:0004051 Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. ORPHA:2722|UMLS:CN202534 http://purl.obolibrary.org/obo/MONDO_0017134 odonto onycho dysplasia with alopecia ordo_malformation_syndrome MONDO:0019796 acrocephalosyndactyly biolink:Disease mondo Orphanet:946|NCIT:C34348|GARD:0000486|ICD10:Q87.0|MedDRA:10000590|EFO:0004123|ICD9:755.55|DOID:12960|SCTID:268262006|COHD:439134 Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations. NCIT:C34348|ORPHA:946|UMLS:C1510455|SNOMEDCT:268262006|DOID:12960|MEDDRA:10000590 http://purl.obolibrary.org/obo/MONDO_0019796 acrocephalosyndactylia|ACS|acrocephalosyndactyly|apert syndrome ordo_group_of_disorders|gard_rare MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome biolink:Disease mondo Orphanet:2732|UMLS:CN202542|GARD:0004070 Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. UMLS:CN202542|ORPHA:2732 http://purl.obolibrary.org/obo/MONDO_0017135 olivopontocerebellar atrophy deafness ordo_malformation_syndrome MONDO:0019799 hepatoerythropoietic porphyria biolink:Disease mondo UMLS:C0162569|ICD10:E80.2|SCTID:111386004|Orphanet:95159|GARD:0006169|MESH:D017121|NCIT:C84754|DOID:5230 Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis. DOID:5230|UMLS:C0162569|ORPHA:95159|SNOMEDCT:111386004|MESH:D017121|NCIT:C84754|UMLS:C0268324 http://purl.obolibrary.org/obo/MONDO_0019799 hep ordo_disease MONDO:0017136 omodysplasia biolink:Disease mondo SCTID:725164008|OMIMPS:258315|DOID:0060288|ICD10:Q78.8|UMLS:C4510897|Orphanet:2733 Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. ORPHA:2733|SNOMEDCT:725164008|DOID:0060288|UMLS:C4510897 http://purl.obolibrary.org/obo/MONDO_0017136 ordo_malformation_syndrome MONDO:0017137 onchocerciasis biolink:Disease mondo SCTID:38539003|GARD:0007252|MedDRA:10039202|DOID:11678|EFO:0007402|ICD9:125.3|ICD10:B73|MedDRA:10030314|UMLS:C0029001|MESH:D009855|NCIT:C34861|Orphanet:2737 Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy. ORPHA:2737|MESH:D009855|NCIT:C34861|SNOMEDCT:38539003|UMLS:C0029001|MEDDRA:10039202|DOID:11678|MEDDRA:10030314 http://purl.obolibrary.org/obo/MONDO_0017137 Onchocerca volvulus infection|Robles' disease|infection caused by Onchocerca volvulus|volvulosis|River blindness|infection by Onchocerca volvulus|onchocerciasis|onchocercosis ordo_disease|gard_rare MONDO:0019798 obsolete acute hepatic porphyria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019798 MONDO:0019793 autosomal dominant cerebellar ataxia type III biolink:Disease mondo ICD10:G11.8|UMLS:CN206746|Orphanet:94148 Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31. UMLS:CN206746|ORPHA:94148 http://purl.obolibrary.org/obo/MONDO_0019793 autosomal dominant cerebellar ataxia type 3|Pure cerebellar syndrome-mild pyramidal signs syndrome|ADCAIII|ADCA3|autosomal dominant cerebellar ataxia type III ordo_group_of_disorders MONDO:0017130 obsolete genetic urogenital tumor biolink:Disease mondo Orphanet:271844 ORPHA:271844 http://purl.obolibrary.org/obo/MONDO_0017130 ordo_group_of_disorders MONDO:0019792 autosomal dominant cerebellar ataxia type I biolink:Disease mondo UMLS:CN206744|Orphanet:94145|ICD10:G11.8 Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. UMLS:CN206744|ORPHA:94145 http://purl.obolibrary.org/obo/MONDO_0019792 cerebellar plus syndrome|ADCA1|autosomal dominant cerebellar ataxia type 1|ADCAI ordo_group_of_disorders MONDO:0017131 genetic cardiac anomaly biolink:Disease mondo Orphanet:271853 ORPHA:271853 http://purl.obolibrary.org/obo/MONDO_0017131 ordo_group_of_disorders MONDO:0019795 acalvaria biolink:Disease mondo Orphanet:945|SCTID:203923004|UMLS:C2930936|GARD:0000361|MESH:C535570|ICD10:Q00.0 Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal. MESH:D009436|ORPHA:945|MESH:C535570|UMLS:C0702169|UMLS:C2930936|SNOMEDCT:203923004 http://purl.obolibrary.org/obo/MONDO_0019795 primary acalvaria|Acrania ordo_malformation_syndrome|gard_rare MONDO:0017132 hereditary ATTR amyloidosis biolink:Disease mondo UMLS:CN227096|Orphanet:271861 ORPHA:271861|UMLS:CN227096 http://purl.obolibrary.org/obo/MONDO_0017132 familial TTR-related amyloidosis|familial transthyretin-related amyloidosis ordo_group_of_disorders MONDO:0017133 genetic systemic or rheumatologic disease biolink:Disease mondo Orphanet:271870|UMLS:CN202531 An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. ORPHA:271870|UMLS:CN202531 http://purl.obolibrary.org/obo/MONDO_0017133 hereditary systemic or rheumatic disease ordo_group_of_disorders MONDO:0019794 autosomal dominant cerebellar ataxia type IV biolink:Disease mondo ICD10:G11.8|UMLS:CN229225|Orphanet:94149 ORPHA:94149|UMLS:CN229225 http://purl.obolibrary.org/obo/MONDO_0019794 ADCAIV|autosomal dominant cerebellar ataxia type 4|autosomal dominant cerebellar ataxia type IV|ADCA4 ordo_group_of_disorders MONDO:0019780 anotia biolink:Disease mondo ICD10:Q16.1|ICD10:Q16.0|SCTID:57436000|Orphanet:93976|MedDRA:10002654|ICD9:744.01 Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development. MESH:C537772|MEDDRA:10002654|SNOMEDCT:57436000|ORPHA:93976 http://purl.obolibrary.org/obo/MONDO_0019780 ordo_morphological_anomaly NCBITaxon:2509487 Igacovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2509487 MONDO:0005159 prostate carcinoma biolink:Disease mondo NCIT:C4863|UMLS:C0600139|EFO:0001663|DOID:10286|KEGG:05215 A carcinoma that arises from epithelial cells of the prostate gland. UMLS:C0600139|DOID:10286|NCIT:C4863 http://purl.obolibrary.org/obo/MONDO_0005159 carcinoma of prostate|carcinoma of the prostate|prostate cancer, NOS|prostate carcinoma|carcinoma of prostate gland|cancer of prostate|cancer of the prostate|prostate cancer|prostate gland carcinoma MONDO:0005156 encephalomyelitis biolink:Disease mondo EFO:0001423|DOID:640|ICD9:323.9|NCIT:C34580|UMLS:C0014070|MESH:D004679|SCTID:62950007 Inflammation of the brain and the spinal cord. SNOMEDCT:62950007|NCIT:C34580|DOID:640|MESH:D004679|UMLS:C0014070 http://purl.obolibrary.org/obo/MONDO_0005156 encephalitis &/or myelitis|inflammation of central nervous system|central nervous system inflammation|encephalitis and/or myelitis MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 biolink:Disease mondo OMIM:618005 http://identifiers.org/omim/618005 http://purl.obolibrary.org/obo/MONDO_0020775 Cdgf|CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; CDGF1 MONDO:0020774 Menke-Hennekam syndrome biolink:Disease mondo OMIMPS:618332 http://purl.obolibrary.org/obo/MONDO_0020774 MONDO:0005155 cirrhosis of liver biolink:Disease mondo MESH:D008103|UMLS:C0023890|SCTID:19943007|NCIT:C2951|ICD10:K74.60|DOID:5082|EFO:0001422|ICD9:571.5 A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. MESH:D008103|NCIT:C2951|SNOMEDCT:19943007|UMLS:C0023890|DOID:5082 http://purl.obolibrary.org/obo/MONDO_0005155 liver cirrhosis|cirrhosis|cirrhosis of liver MONDO:0020773 cerebrospinal fluid rhinorrhea biolink:Disease mondo HP:0030998|GTR:AN1355639|SCTID:85638002|MESH:D002559|GTR:AN1353832|UMLS:C0007815|ICD9:349.81 Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9) UMLS:C0007815|MESH:D002559|SNOMEDCT:85638002 http://purl.obolibrary.org/obo/MONDO_0020773 Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, post-Traumatic, Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea, post-Traumatic|Rhinorrhea, Cerebrospinal Fluid, Spontaneous|CSF Rhinorrhea|Cerebrospinal Rhinorrheas|Rhinorrhea, Cerebrospinal Fluid, post-Traumatic|Rhinorrheas, Cerebrospinal Fluid|CSF Rhinorrheas|Cerebrospinal fluid rhinorrhoea|Cerebrospinal Rhinorrhea|Cerebrospinal Fluid Rhinorrhea, post Traumatic|Rhinorrhea, Spontaneous Cerebrospinal Fluid|Cerebrospinal rhinorrhea|Cerebrospinal Fluid Rhinorrhea, Spontaneous|Spontaneous Rhinorrhea, Cerebrospinal Fluid|post-Traumatic Rhinorrhea, Cerebrospinal Fluid|post Traumatic Cerebrospinal Fluid Rhinorrhea|CSF - Cerebrospinal rhinorrhea|Rhinorrhea, Cerebrospinal Fluid, Traumatic|Traumatic Cerebrospinal Fluid Rhinorrhea|Cerebrospinal Fluid Rhinorrheas|cerebrospinal rhinorrhea|Cerebrospinal Fluid Rhinorrhea, Traumatic|post Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal|Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Traumatic Cerebrospinal Fluid|Rhinorrhea, CSF|post-Traumatic Cerebrospinal Fluid Rhinorrhea|CSF rhinorrhoea|Cerebrospinal Fluid Rhinorrhea|Spontaneous Cerebrospinal Fluid Rhinorrhea|Rhinorrheas, Cerebrospinal|csf - cerebrospinal rhinorrhea|Rhinorrheas, CSF|cerebrospinal fluid rhinorrhea|Cerebrospinal fluid rhinorrhea HGNC:10856 SI biolink:OntologyClass mondo http://identifiers.org/hgnc/10856 MONDO:0005158 obsolete coronary heart disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005158 MONDO:0005157 lymphoid neoplasm biolink:Disease mondo UMLS:C0598798|EFO:0001642|NCIT:C7065|ONCOTREE:LYMPH|ICD9:200.7 A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. UMLS:C0598798|NCIT:C7065 http://purl.obolibrary.org/obo/MONDO_0005157 lymphoid tumor|lymphoid and plasmacytic tumour|lymphocytic tumor|lymphocytic and plasma cell neoplasm|lymphoid and plasmacytic tumor|lymphocytic and plasmacytic neoplasm|lymphoid and plasma cell tumor|lymphoid and plasmacytic neoplasm|lymphocytic and plasma cell tumour|lymphocytic and plasma cell tumor|lymphoid and plasma cell tumour|lymphocytic neoplasm|lymphoid neoplasm MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 biolink:Disease mondo OMIM:607631 http://identifiers.org/omim/607631 http://purl.obolibrary.org/obo/MONDO_0020772 EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1|JAE1 MONDO:0005152 hypopituitarism biolink:Disease mondo MESH:D007018|NCIT:C62591|COHD:4254542|DOID:9406|GARD:0002917|EFO:0001380|SCTID:74728003|ICD10:E23.0|UMLS:C0020635 A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. MESH:D007018|NCIT:C62591|DOID:9406|SNOMEDCT:74728003|UMLS:C0020635 http://purl.obolibrary.org/obo/MONDO_0005152 pituitary hormone deficiency|pituitary hypofunction|pituitary insufficiency gard_rare MONDO:0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy biolink:Disease mondo OMIMPS:607250 http://purl.obolibrary.org/obo/MONDO_0020771 SCAN MONDO:0005151 endocrine system disease biolink:Disease mondo ICD9:259.8|NCIT:C3009|ICD9:259.9|DOID:28|UMLS:C0014130|SCTID:362969004|MESH:D004700|ICD10:E34.9|EFO:0001379 A disease involving the endocrine system. SNOMEDCT:362969004|NCIT:C3009|DOID:28|MESH:D004700|UMLS:C0014130 http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disorder|endocrinopathy|endocrine disease|disorder of endocrine system|endocrine system disease or disorder|endocrine disorder|thyroid or other glandular disorders|disease of endocrine system|disease or disorder of endocrine system|disorder of endocrine system|endocrine system disease MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 biolink:Disease mondo OMIM:618387 http://identifiers.org/omim/618387 http://purl.obolibrary.org/obo/MONDO_0020770 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3; SCAN3|SCAN3 MONDO:0005154 liver disease biolink:Disease mondo NCIT:C3196|EFO:0001421|SCTID:235856003|UMLS:C0023895|ICD10:K76.9|ICD9:573.8|ICD10:K70-K77|DOID:409|ICD9:573.9|COHD:194984|MESH:D008107 A disease involving the liver. MESH:D008107|DOID:409|NCIT:C50634|UMLS:C0023895|NCIT:C3196|SNOMEDCT:235856003 http://purl.obolibrary.org/obo/MONDO_0005154 hepatic disorder|disease of liver|liver disease or disorder|disorder of liver|liver disorder|liver and intrahepatic bile duct disorder|disorder of liver|liver disease|hepatic disease|disease or disorder of liver MONDO:0005153 cervical adenocarcinoma biolink:Disease mondo ONCOTREE:CEAD|DOID:3702|NCIT:C4029|EFO:0001416|SCTID:254887002 An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. SNOMEDCT:254887002|DOID:3702|NCIT:C4029 http://purl.obolibrary.org/obo/MONDO_0005153 adenocarcinoma - cervix|uterine cervix adenocarcinoma|cervix uteri adenocarcinoma|adenocarcinoma of cervix|adenocarcinoma of the cervix|adenocarcinoma of the uterine cervix|adenocarcinoma cervix uteri|cervix adenocarcinoma|adenocarcinoma of cervix uteri|adenocarcinoma of the cervix uteri|adenocarcinoma of uterine cervix|cervical adenocarcinoma, not otherwise specified|cervical adenocarcinoma|cervical adenocarcinoma, NOS MONDO:0005150 age-related macular degeneration biolink:Disease mondo SCTID:267718000|NIFSTD:birnlex_12812|DOID:10871|EFO:0001365|NCIT:C84391|ICD9:362.50|ICD10:H35.30|Orphanet:279|OMIMPS:603075|COHD:374028|UMLS:C0242383 Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. SNOMEDCT:267718000|NCIT:C84391|NCIT:C25416|DOID:10871|UMLS:C0242383|ORPHA:279 http://purl.obolibrary.org/obo/MONDO_0005150 Senile macular degeneration|macular degeneration, age-related|Senile macular retinal degeneration|AMD|age related maculopathy|ARMD|age-related macular degeneration|age related Maculopathies|age related macular degeneration MONDO:0020769 Menke-Hennekam syndrome 2 biolink:Disease mondo OMIM:618333 http://identifiers.org/omim/618333 http://purl.obolibrary.org/obo/MONDO_0020769 Menke-Hennekam syndrome 2; MKHK2 MONDO:0017127 inherited soft tissue tumor biolink:Disease mondo UMLS:CN202526|Orphanet:271832 An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. UMLS:CN202526|ORPHA:271832 http://purl.obolibrary.org/obo/MONDO_0017127 hereditary mesenchymal cell neoplasm|genetic mesenchymal tumor|genetic soft tissue tumor|genetic mesenchymal cell neoplasm ordo_group_of_disorders MONDO:0020768 X-linked deafness biolink:Disease mondo OMIMPS:304500|GARD:0001715 http://purl.obolibrary.org/obo/MONDO_0020768 deafness, X-linked, DFN|deafness, X-linked|DFNX MONDO:0020767 cauda equina syndrome with neurogenic bladder biolink:Disease mondo SCTID:12454008|ICD9:344.61|NCIT:C34453|UMLS:C0007459 A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted. SNOMEDCT:12454008|NCIT:C34453|UMLS:C0007459 http://purl.obolibrary.org/obo/MONDO_0020767 cauda equina syndrome with neurogenic bladder|Cauda Equina Syndrome with Neurogenic Bladder|Cauda equina syndrome with neurogenic bladder MONDO:0019789 cytophagic histiocytic panniculitis biolink:Disease mondo SCTID:238883003|UMLS:C0406594|Orphanet:94087|ICD10:M35.8 Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue. UMLS:C0406594|ORPHA:94087|SNOMEDCT:238883003 http://purl.obolibrary.org/obo/MONDO_0019789 CHP|Winkelmann cytophagic panniculitis ordo_disease MONDO:0017128 inherited digestive tract tumor biolink:Disease mondo UMLS:CN202527|Orphanet:271835 UMLS:CN202527|ORPHA:271835 http://purl.obolibrary.org/obo/MONDO_0017128 genetic digestive tract tumor ordo_group_of_disorders MONDO:0017129 inherited cardiac tumor biolink:Disease mondo UMLS:CN202528|Orphanet:271841 An instance of heart cancer that is caused by a modification of the individual's genome. UMLS:CN202528|ORPHA:271841 http://purl.obolibrary.org/obo/MONDO_0017129 hereditary heart neoplasm|genetic heart tumor|genetic cardiac tumor ordo_group_of_disorders MONDO:0020766 neuropathy, congenital hypomyelinating, 3 biolink:Disease mondo OMIM:618186 http://identifiers.org/omim/618186 http://purl.obolibrary.org/obo/MONDO_0020766 CHN3|NEUROPATHY, CONGENITAL HYPOMYELINATING, 3; CHN3 CHEBI:79020 alpha,beta-unsaturated monocarboxylic acid biolink:ChemicalSubstance mondo A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond. http://purl.obolibrary.org/obo/CHEBI_79020 2,3-unsaturated monocarboxylic acids|alpha,beta-unsaturated monocarboxylic acids|2,3-unsaturated monocarboxylic acid MONDO:0020765 neuropathy, congenital hypomyelinating, 2 biolink:Disease mondo OMIM:618184 http://identifiers.org/omim/618184 http://purl.obolibrary.org/obo/MONDO_0020765 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2; CHN2|CHN2 MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome biolink:Disease mondo OMIMPS:208085|GARD:0000794|Orphanet:2697|SCTID:720513002|DOID:0050763|ICD10:Q89.7|MESH:C535382 Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. UMLS:C1859722|ORPHA:2697|MESH:C535382|DOID:0050763|SNOMEDCT:720513002 http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome|arthrogryposis-renal dysfunction-cholestasis|arthrogryposis - renal dysfunction - cholestasis|arthrogryposis renal dysfunction cholestasis syndrome|arthrogryposis, renal dysfunction, and cholestasis|arthrogryposis multiplex congenita, renal dysfunction, and cholestasis|ARC syndrome ordo_malformation_syndrome MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia biolink:Disease mondo ICD10:Q87.8|Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14. ORPHA:94066 http://purl.obolibrary.org/obo/MONDO_0019786 ordo_malformation_syndrome MONDO:0019785 obsolete 15q24 microdeletion syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019785 MONDO:0017124 noma biolink:Disease mondo Orphanet:2700|NCIT:C34852|ICD10:A69.0|COHD:141055|ICD9:528.1|MESH:D009625|EFO:1001063|GARD:0004001|UMLS:C0028271|MedDRA:10029502|SCTID:18116006|DOID:9672 Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. SNOMEDCT:18116006|ORPHA:2700|MESH:D009625|NCIT:C34852|MEDDRA:10029502|DOID:9672|UMLS:C0028271 http://purl.obolibrary.org/obo/MONDO_0017124 gangrenous stomatitis|oro-facial gangrene|oral gangrene|noma neonatorum|cancrum oris|oro-facial noma ordo_disease|gard_rare MONDO:0017125 oculofaciocardiodental syndrome biolink:Disease mondo Orphanet:2712|SCTID:699300009|ICD9:759.89|ICD10:Q87.8|GARD:0004628 Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease. UMLS:C1846265|ORPHA:2712|MESH:C537465|MESH:C537735|SNOMEDCT:699300009|UMLS:C2931601 http://purl.obolibrary.org/obo/MONDO_0017125 cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|syndromic microphthalmia type 2|OFCD syndrome|ANOP2 (formerly)|MAA2 (formerly)|microphthalmia cataracts radiculomegaly and septal heart defects|microphthalmia syndromic 2 ordo_malformation_syndrome MONDO:0019788 non-secreting paraganglioma biolink:Disease mondo Orphanet:94080|SCTID:764999002 Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed. SNOMEDCT:764999002|ORPHA:94080 http://purl.obolibrary.org/obo/MONDO_0019788 non-functioning paraganglioma ordo_disease MONDO:0019787 autoimmune enteropathy biolink:Disease mondo ICD9:279.49|MESH:C538273|UMLS:C0341305|Orphanet:94075|GARD:0008689|SCTID:235728001|NCIT:C94694 Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss. MESH:C538273|NCIT:C94694|UMLS:C0341305|SNOMEDCT:235728001|ORPHA:94075 http://purl.obolibrary.org/obo/MONDO_0019787 immune-mediated protracted diarrhea of infancy|severe immune-mediated enteropathy ordo_group_of_disorders MONDO:0017126 oculo-skeletal-renal syndrome biolink:Disease mondo UMLS:CN202523|GARD:0004028|Orphanet:2716 UMLS:CN202523|ORPHA:2716 http://purl.obolibrary.org/obo/MONDO_0017126 oculo skeletal renal syndrome ordo_malformation_syndrome|gard_rare MONDO:0019782 humero-ulnar synostosis biolink:Disease mondo Orphanet:94056|ICD10:Q74.0 ORPHA:94056|UMLS:C0431799 http://purl.obolibrary.org/obo/MONDO_0019782 humero-ulnar fusion ordo_morphological_anomaly MONDO:0017120 other syndrome with a central nervous system malformation as major feature biolink:Disease mondo Orphanet:269531|UMLS:CN202470 ORPHA:269531|UMLS:CN202470 http://purl.obolibrary.org/obo/MONDO_0017120 obsoletion_candidate|ordo_group_of_disorders MONDO:0019781 astrocytoma (excluding glioblastoma) biolink:Disease mondo MESH:D001254|SCTID:147101000119108|ONCOTREE:ASTR|ICDO:9400/3|UMLS:C0004114|NCIT:C60781 A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. NCIT:C60781|UMLS:C0004114|SNOMEDCT:147101000119108|MESH:D001254 http://purl.obolibrary.org/obo/MONDO_0019781 astrocytoma MONDO:0019784 12q14 microdeletion syndrome biolink:Disease mondo SCTID:719046005|UMLS:C4305140|ICD10:Q93.5|Orphanet:94063|UMLS:CN206727|GARD:0013390 12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. UMLS:C4305140|SNOMEDCT:719046005|ORPHA:94063|UMLS:CN206727 http://purl.obolibrary.org/obo/MONDO_0019784 monosomy 12q14|osteopoikilosis-short stature-intellectual disability syndrome|Del(12)(q14)|deletion 12q14 ordo_malformation_syndrome|gard_rare MONDO:0017121 syndrome with a Dandy-Walker malformation as major feature biolink:Disease mondo Orphanet:269546|UMLS:CN202471 UMLS:CN202471|ORPHA:269546 http://purl.obolibrary.org/obo/MONDO_0017121 ordo_group_of_disorders MONDO:0019783 neovascular glaucoma biolink:Disease mondo UMLS:C0017609|DOID:1687|Orphanet:94058|SCTID:232086000|MedDRA:10062891|MESH:D015355|EFO:1001060 Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision. MEDDRA:10062891|ORPHA:94058|SNOMEDCT:232086000|DOID:1687|UMLS:C0017609|MESH:D015355 http://purl.obolibrary.org/obo/MONDO_0019783 secondary angle-closure glaucoma with rubeosis ordo_clinical_situation MONDO:0017122 genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature biolink:Disease mondo UMLS:CN202475|Orphanet:269573 UMLS:CN202475|ORPHA:269573 http://purl.obolibrary.org/obo/MONDO_0017122 ordo_group_of_disorders|obsoletion_candidate MONDO:0017192 sporadic secreting paraganglioma biolink:Disease mondo Orphanet:276627|ICD10:D44.7|UMLS:CN202632|ICD10:C75.5 UMLS:CN202632|ORPHA:276627 http://purl.obolibrary.org/obo/MONDO_0017192 ordo_clinical_subtype MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers biolink:Disease mondo ICD10:Q87.0|UMLS:CN202633|Orphanet:276630 UMLS:CN202633|ORPHA:276630 http://purl.obolibrary.org/obo/MONDO_0017193 ordo_malformation_syndrome MONDO:0032748 spermatogenic failure 38 biolink:Disease mondo OMIM:618433 http://identifiers.org/omim/618433 http://purl.obolibrary.org/obo/MONDO_0032748 SPERMATOGENIC FAILURE 38; SPGF38 MONDO:0017194 Blount disease biolink:Disease mondo SCTID:79353000|Orphanet:2768|MESH:C536237|ICD9:736.89|ICD10:M92.5|MedDRA:10072255|GARD:0000916|NCIT:C118460|DOID:14798 Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs. NCIT:C118460|ORPHA:2768|SNOMEDCT:79353000|MESH:C536237|UMLS:C0175756|DOID:14798|MEDDRA:10072255 http://purl.obolibrary.org/obo/MONDO_0017194 Blount's disease|Blount disease|Osteochondrosis deformans tibiae, familial infantile type|tibia vara|infantile tibia vara|Erlacher-Blount syndrome|Osteochondrosis deformans tibiae|Blount-Barber syndrome|tibia vara Blount|familial infantile type osteochondrosis deformans tibiae ordo_malformation_syndrome|gard_rare MONDO:0017195 Bruck syndrome biolink:Disease mondo ICD10:M21.8|UMLS:C0432253|MedDRA:10063718|SCTID:254113006|Orphanet:2771|ICD9:733.99|DOID:0060231 Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. SNOMEDCT:254113006|ORPHA:2771|UMLS:C0432253|MEDDRA:10063718|DOID:0060231 http://purl.obolibrary.org/obo/MONDO_0017195 osteogenesis imperfecta-congenital joint contractures syndrome|osteogenesis imperfecta with congenital joint contractures ordo_malformation_syndrome MONDO:0032749 deafness, autosomal recessive 94 biolink:Disease mondo OMIM:618434 http://identifiers.org/omim/618434 http://purl.obolibrary.org/obo/MONDO_0032749 DEAFNESS, AUTOSOMAL RECESSIVE 94; DFNB94 MONDO:0032746 hydatidiform mole, recurrent, 3 biolink:Disease mondo OMIM:618431 http://identifiers.org/omim/618431 http://purl.obolibrary.org/obo/MONDO_0032746 HYDATIDIFORM MOLE, RECURRENT, 3; HYDM3 MONDO:0032747 hydatidiform mole, recurrent, 4 biolink:Disease mondo OMIM:618432 http://identifiers.org/omim/618432 http://purl.obolibrary.org/obo/MONDO_0032747 HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4 MONDO:0032744 spermatogenic failure 37 biolink:Disease mondo OMIM:618429 http://identifiers.org/omim/618429 http://purl.obolibrary.org/obo/MONDO_0032744 SPERMATOGENIC FAILURE 37; SPGF37 MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma biolink:Disease mondo ICD10:C74.1|Orphanet:276621|UMLS:CN202630|GARD:0007385|ICD10:D35.0 Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. UMLS:CN202630|ORPHA:276621 http://purl.obolibrary.org/obo/MONDO_0017190 ordo_disease MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities biolink:Disease mondo OMIM:618430 http://identifiers.org/omim/618430 http://purl.obolibrary.org/obo/MONDO_0032745 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; DDVIBA MONDO:0017191 sporadic pheochromocytoma biolink:Disease mondo Orphanet:276624|ICD10:D35.0|UMLS:CN202631|ICD10:C74.1 UMLS:CN202631|ORPHA:276624 http://purl.obolibrary.org/obo/MONDO_0017191 ordo_clinical_subtype HGNC:10825 SH3BP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10825 MONDO:0044727 pancreatic carcinoma with mixed differentiation biolink:Disease mondo Orphanet:506112|UMLS:C1709050|NCIT:C45843 A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss. NCIT:C45843|ORPHA:506112|UMLS:C1709050 http://purl.obolibrary.org/obo/MONDO_0044727 mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas|mixed exocrine-endocrine carcinoma of the pancreas|pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm|pancreatic MiNEN|MiNEN of pancreas|pancreatic carcinoma with mixed differentiation ordo_disease MONDO:0044724 3-methylglutaconic aciduria type 9 biolink:Disease mondo UMLS:CN510468|DOID:0070002|OMIM:617698|Orphanet:505216 http://identifiers.org/omim/617698|UMLS:CN510468|ORPHA:505216|DOID:0070002 http://purl.obolibrary.org/obo/MONDO_0044724 3-METHYLGLUTACONIC aciduria, type IX; MGCA9|3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|3-Methylglutaconic aciduria, type 9|MGA9|3-methylglutaconic acuduria type IX|3-methylglutaconic acuduria type IX, MGCA9|MGCA9 ordo_disease MONDO:0044723 3-methylglutaconic aciduria type 8 biolink:Disease mondo UMLS:C4310650|Orphanet:505208|DOID:0070000|OMIM:617248 UMLS:C4310650|http://identifiers.org/omim/617248|ORPHA:505208|DOID:0070000 http://purl.obolibrary.org/obo/MONDO_0044723 3-methylglutaconic aciduria, type VIII; MGCA8|MGA8|3-methylglutaconic aciduria type VIII|3-Methylglutaconic aciduria, type 8|3-methylglutaconic aciduria type VIII, MGCA8|3-methylglutaconic aciduria, type VIII|MGCA8 ordo_disease MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome biolink:Disease mondo UMLS:CN353477|OMIM:617595|Orphanet:505242 http://identifiers.org/omim/617595|UMLS:CN353477|ORPHA:505242 http://purl.obolibrary.org/obo/MONDO_0044726 BILAPES|Birk-Landau-Perez syndrome|Birk-Landau-Perez syndrome; BILAPES|Cerebrorenal syndrome, Perez type ordo_disease MONDO:0044725 combined immunodeficiency due to GINS1 deficiency biolink:Disease mondo OMIM:617827|UMLS:CN737162|Orphanet:505227 UMLS:CN737162|http://identifiers.org/omim/617827|ORPHA:505227 http://purl.obolibrary.org/obo/MONDO_0044725 combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|immunodeficiency 55|IMD55|combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia|Cid due to GINS1 deficiency|immunodeficiency 55; IMD55 ordo_disease MONDO:0032753 spastic ataxia 9, autosomal recessive biolink:Disease mondo OMIM:618438 http://identifiers.org/omim/618438 http://purl.obolibrary.org/obo/MONDO_0032753 SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE; SPAX9 MONDO:0032751 arthrogryposis, distal, type 2b3 biolink:Disease mondo OMIM:618436 http://identifiers.org/omim/618436 http://purl.obolibrary.org/obo/MONDO_0032751 ARTHROGRYPOSIS, DISTAL, TYPE 2B3; DA2B3 MONDO:0032752 developmental and epileptic encephalopathy, 75 biolink:Disease mondo OMIM:618437 http://identifiers.org/omim/618437 http://purl.obolibrary.org/obo/MONDO_0032752 DEE75|epileptic encephalopathy, early infantile, 75|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75; EIEE75 MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome biolink:Disease mondo SCTID:722110003|MESH:C535617|Orphanet:2773|GARD:0000587|UMLS:CN202641|ICD10:Q87.8 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. UMLS:CN202641|ORPHA:2773|SNOMEDCT:722110003|MESH:C535617 http://purl.obolibrary.org/obo/MONDO_0017196 Al Gazali-Nair syndrome|osteogenesis imperfecta retinopathy seizures intellectual deficit|Al Gazali Sabrinathan Nair syndrome gard_rare|ordo_malformation_syndrome MONDO:0032750 arthrogryposis, distal, type 2b2 biolink:Disease mondo OMIM:618435 http://identifiers.org/omim/618435 http://purl.obolibrary.org/obo/MONDO_0032750 ARTHROGRYPOSIS, DISTAL, TYPE 2B2; DA2B2 MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome biolink:Disease mondo ICD10:Q77.8|MESH:C536054|GARD:0005562|Orphanet:2779|UMLS:C2931096 Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. http://identifiers.org/omim/311280|ORPHA:2779|MESH:C536054|UMLS:C2931096 http://purl.obolibrary.org/obo/MONDO_0017197 osteopathia striata associated with familial dermopathy and white forelock|Whyte Murphy syndrome|Whyte-Murphy syndrome|osteopathia striata with pigmentary dermopathy including white forelock ordo_malformation_syndrome MONDO:0017198 osteopetrosis (disease) biolink:Disease mondo HP:0011002|DOID:13533|OMIMPS:259700|SCTID:1926006|ICD9:756.52|COHD:81403|NCIT:C26840|ICD10:Q78.2|MedDRA:10031280|GARD:0004155|Orphanet:2781 Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. MEDDRA:10031280|SNOMEDCT:1926006|NCIT:C26840|ORPHA:2781|MESH:D010022|DOID:13533 http://purl.obolibrary.org/obo/MONDO_0017198 Albers-Schonberg disease|marble bone|marble bone disease|osteopetrosis|Albers-Schoenberg disease|osteosclerosis fragilis|marble bones|osteopetroses|osteopetrosis and related disorders ordo_group_of_disorders MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome biolink:Disease mondo Orphanet:2787|UMLS:CN202651|SCTID:716189005|UMLS:C4274786 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. UMLS:C4274786|UMLS:CN202651|ORPHA:2787|SNOMEDCT:716189005 http://purl.obolibrary.org/obo/MONDO_0017199 Heide syndrome ordo_malformation_syndrome MONDO:0017181 hypnic headache (disease) biolink:Disease mondo ICD9:339.81|Orphanet:276429|ICD10:G44.8|GARD:0010796|MESH:D051270|HP:0012459|SCTID:122711000119109 Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes. UMLS:C0752150|SNOMEDCT:122711000119109|MESH:D051270|ORPHA:276429 http://purl.obolibrary.org/obo/MONDO_0017181 hypnic headache ordo_disease MONDO:0017182 familial hyperinsulinism biolink:Disease mondo Orphanet:276525|NCIT:C131425|ICD10:E16.1 An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome. ORPHA:276525|UMLS:C2931834|NCIT:C131425 http://purl.obolibrary.org/obo/MONDO_0017182 familial hyperinsulinemic hypoglycemia|HHI|hereditary hyperinsulinism (disease)|hyperinsulinemic hypoglycemia|hyperinsulinemia of infancy|FHI|congenital hyperinsulinism|Neonatal hyperinsulinism|Nesidioblastosis ordo_group_of_disorders MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies biolink:Disease mondo OMIM:618453 http://identifiers.org/omim/618453 http://purl.obolibrary.org/obo/MONDO_0032759 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES; IDDSSA MONDO:0017183 hyperinsulinism due to UCP2 deficiency biolink:Disease mondo SCTID:721834007|Orphanet:276556|ICD10:E16.1|UMLS:C4303082 HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. ORPHA:276556|SNOMEDCT:721834007|UMLS:C4303082 http://purl.obolibrary.org/obo/MONDO_0017183 hyperinsulinemic hypoglycemia due to UCP2 deficiency ordo_disease MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency biolink:Disease mondo UMLS:CN202625|ICD10:E16.1|Orphanet:276575|UMLS:C4274080|SCTID:717046003 Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism). ORPHA:276575|UMLS:C4274080|UMLS:CN202625|SNOMEDCT:717046003 http://purl.obolibrary.org/obo/MONDO_0017184 autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency ordo_disease MONDO:0032757 ciliary dyskinesia, primary, 41 biolink:Disease mondo OMIM:618449 http://identifiers.org/omim/618449 http://purl.obolibrary.org/obo/MONDO_0032757 CILIARY DYSKINESIA, PRIMARY, 41; CILD41 MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia biolink:Disease mondo OMIM:618451 http://identifiers.org/omim/618451 http://purl.obolibrary.org/obo/MONDO_0032758 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA; NDCAMA MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA biolink:Disease mondo OMIM:618443 http://identifiers.org/omim/618443 http://purl.obolibrary.org/obo/MONDO_0032755 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES; NEDBA MONDO:0032756 long qt syndrome 8 biolink:Disease mondo OMIM:618447 http://identifiers.org/omim/618447 http://purl.obolibrary.org/obo/MONDO_0032756 LONG QT SYNDROME 8; LQT8 MONDO:0017180 10q22.3q23.3 microduplication syndrome biolink:Disease mondo Orphanet:276422|ICD10:Q92.3|UMLS:CN202619 UMLS:CN202619|ORPHA:276422 http://purl.obolibrary.org/obo/MONDO_0017180 dup(10)(q22.3q23.3)|trisomy 10q22.3q23.3 ordo_malformation_syndrome GO:0032468 Golgi calcium ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of calcium ions within the Golgi apparatus of a cell or between the Golgi and its surroundings. http://purl.obolibrary.org/obo/GO_0032468 regulation of calcium ion concentration in Golgi|calcium ion homeostasis in Golgi|regulation of Golgi calcium ion concentration|Golgi calcium ion concentration regulation MONDO:0044742 autosomal recessive epidermolytic ichthyosis biolink:Disease mondo Orphanet:512103 ORPHA:512103 http://purl.obolibrary.org/obo/MONDO_0044742 AREI ordo_disease MONDO:0044744 prekallikrein deficiency biolink:Disease mondo SCTID:48976006|NCIT:C99022 A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. NCIT:C99022|SNOMEDCT:48976006 http://purl.obolibrary.org/obo/MONDO_0044744 prekallikrein deficiency MONDO:0044743 major salivary gland cancer biolink:Disease mondo UMLS:C0496763|SCTID:363378008|NCIT:C4762 A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. SNOMEDCT:363378008|NCIT:C4762|UMLS:C0496763 http://purl.obolibrary.org/obo/MONDO_0044743 malignant tumor of major salivary gland|malignant Major salivary gland neoplasm|malignant major salivary gland neoplasm|cancer of major salivary gland|malignant neoplasm of major salivary glands|malignant tumor of Major salivary gland|malignant tumor of the Major salivary gland|malignant neoplasm of Major salivary gland|malignant neoplasm of major salivary gland|malignant neoplasm of the Major salivary gland|malignant Major salivary gland tumor MONDO:0044740 salivary gland squamous cell carcinoma biolink:Disease mondo NCIT:C7991|EFO:1001967|Orphanet:500481|UMLS:C0279697 A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course. ORPHA:500481|NCIT:C7991|UMLS:C0279697 http://purl.obolibrary.org/obo/MONDO_0044740 squamous cell carcinoma of salivary gland|squamous cell carcinoma of the salivary gland|SCC of salivary gland|SCC of the salivary gland|salivary gland squamous cell cancer|epidermoid carcinoma of salivary gland|squamous cell carcinoma of salivary glands|salivary gland squamous cell carcinoma|epidermoid carcinoma of the salivary gland|saliva-secreting gland squamous cell carcinoma|salivary gland SCC|salivary gland epidermoid carcinoma ordo_histopathological_subtype MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome biolink:Disease mondo ICD10:L51.8|Orphanet:506784 ORPHA:506784 http://purl.obolibrary.org/obo/MONDO_0044739 Stevens-Johnson/TEN overlap syndrome|Stevens-Johnson/toxic epidermal necrolysis overlap syndrome|SJS/TEN overlap syndrome ordo_clinical_subtype MONDO:0044738 Gabriele de Vries syndrome biolink:Disease mondo UMLS:C4479652|OMIM:617557|Orphanet:506358 UMLS:C4479652|http://identifiers.org/omim/617557|ORPHA:506358 http://purl.obolibrary.org/obo/MONDO_0044738 Gabriele-De Vries syndrome|GADEVS|Gabriele-de Vries syndrome; GADEVS|YY1 haploinsufficiency syndrome ordo_malformation_syndrome MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction biolink:Disease mondo Orphanet:506353 ORPHA:506353 http://purl.obolibrary.org/obo/MONDO_0044737 autosomal recessive complex SPG due to Kennedy pathway dysfunction ordo_disease MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia biolink:Disease mondo SCTID:717044000|Orphanet:276608|ICD10:E16.1|UMLS:C4274082 Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide ORPHA:276608|UMLS:C4274082|SNOMEDCT:717044000 http://purl.obolibrary.org/obo/MONDO_0017189 NI-PHH ordo_disease MONDO:0032764 Khan-Khan-Katsanis syndrome biolink:Disease mondo OMIM:618460 http://identifiers.org/omim/618460 http://purl.obolibrary.org/obo/MONDO_0032764 3K Syndrome|KHAN-KHAN-KATSANIS SYNDROME; 3KS MONDO:0032765 bleeding disorder, platelet-type, 22 biolink:Disease mondo OMIM:618462 http://identifiers.org/omim/618462 http://purl.obolibrary.org/obo/MONDO_0032765 BLEEDING DISORDER, PLATELET-TYPE, 22; BDPLT22 MONDO:0032762 deafness, autosomal recessive 115 biolink:Disease mondo OMIM:618457 http://identifiers.org/omim/618457 http://purl.obolibrary.org/obo/MONDO_0032762 DEAFNESS, AUTOSOMAL RECESSIVE 115; DFNB115 MONDO:0032763 immunodeficiency 62 biolink:Disease mondo OMIM:618459 http://identifiers.org/omim/618459 http://purl.obolibrary.org/obo/MONDO_0032763 IMMUNODEFICIENCY 62; IMD62 MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency biolink:Disease mondo Orphanet:276580|UMLS:CN202626|ICD10:E16.1|UMLS:C4274081|SCTID:717045004 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism). ORPHA:276580|UMLS:C4274081|UMLS:CN202626|SNOMEDCT:717045004 http://purl.obolibrary.org/obo/MONDO_0017185 dominant KATP hyperinsulinism due to Kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency ordo_disease MONDO:0032760 developmental delay with or without dysmorphic facies and autism biolink:Disease mondo OMIM:618454 http://identifiers.org/omim/618454 http://purl.obolibrary.org/obo/MONDO_0032760 DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; DEDDFA MONDO:0017186 diazoxide-resistant hyperinsulinism biolink:Disease mondo ICD10:E16.1|Orphanet:276585 Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. ORPHA:276585 http://purl.obolibrary.org/obo/MONDO_0017186 diazoxide-resistant hyperinsulinemic hypoglycemia ordo_group_of_disorders MONDO:0032761 deafness, autosomal recessive 114 biolink:Disease mondo OMIM:618456 http://identifiers.org/omim/618456 http://purl.obolibrary.org/obo/MONDO_0032761 DEAFNESS, AUTOSOMAL RECESSIVE 114; DFNB114 MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency biolink:Disease mondo Orphanet:276598|ICD10:E16.1 ORPHA:276598 http://purl.obolibrary.org/obo/MONDO_0017187 hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form ordo_disease MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency biolink:Disease mondo ICD10:E16.1|Orphanet:276603 ORPHA:276603 http://purl.obolibrary.org/obo/MONDO_0017188 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form ordo_disease MONDO:0017170 idiopathic recurrent stupor biolink:Disease mondo Orphanet:276174|SCTID:763739002|UMLS:CN202595 Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes. UMLS:CN202595|SNOMEDCT:763739002|ORPHA:276174 http://purl.obolibrary.org/obo/MONDO_0017170 ordo_disease MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing biolink:Disease mondo ICD10:E76.2|UMLS:CN202600|Orphanet:276212 ORPHA:276212|UMLS:CN202600 http://purl.obolibrary.org/obo/MONDO_0017171 mucopolysaccharidosis type VI, rapidly progressing|MPSVI, rapidly progressing|MPS6, rapidly progressing|arylsulfatase B deficiency, rapidly progressing ordo_clinical_subtype MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing biolink:Disease mondo ICD10:E76.2|UMLS:CN202601|Orphanet:276223 ORPHA:276223|UMLS:CN202601 http://purl.obolibrary.org/obo/MONDO_0017172 arylsulfatase B deficiency, slowly progressing|MPS6, slowly progressing|MPSVI, slowly progressing|mucopolysaccharidosis type VI, slowly progressing ordo_clinical_subtype HGNC:10809 SGCG biolink:OntologyClass mondo http://identifiers.org/hgnc/10809 MONDO:0017173 non-syndromic male infertility due to sperm motility disorder biolink:Disease mondo UMLS:CN202602|ICD10:N46|Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present. ORPHA:276234|UMLS:CN202602 http://purl.obolibrary.org/obo/MONDO_0017173 isolated male infertility due to sperm motility disorder|nonsyndromic male infertility due to sperm motility disorder|isolated male infertility due to sperm motility disorder|non-syndromic male infertility due asthenozoospermia ordo_disease MONDO:0030105 galactosemia 4 biolink:Disease mondo OMIM:618881 http://identifiers.org/omim/618881 http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia iv|Galactose Mutarotase Deficiency|GALAC4|GALACTOSEMIA IV; GALAC4 MONDO:0032768 developmental and epileptic encephalopathy, 76 biolink:Disease mondo OMIM:618468 http://identifiers.org/omim/618468 http://purl.obolibrary.org/obo/MONDO_0032768 Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination|DEE76|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76; EIEE76|epileptic encephalopathy, early infantile, 76 MONDO:0032766 hypoalphalipoproteinemia, primary, 2 biolink:Disease mondo OMIM:618463 http://identifiers.org/omim/618463 http://purl.obolibrary.org/obo/MONDO_0032766 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2|High Density Lipoprotein Deficiency|Apolipoprotein A-I Deficiency MONDO:0032767 paragangliomas 6 biolink:Disease mondo OMIM:618464 http://identifiers.org/omim/618464 http://purl.obolibrary.org/obo/MONDO_0032767 PARAGANGLIOMAS 6; PGL6 MONDO:0044753 lumbar spinal stenosis biolink:Disease mondo SCTID:18347007|HP:0004610|ICD9:724.02|UMLS:C0158288 A spinal stenosis that involves the lumbar region of vertebral column. SNOMEDCT:18347007|UMLS:C0158288 http://purl.obolibrary.org/obo/MONDO_0044753 lumbar spinal stenosis|lumbar region of vertebral column spinal stenosis|spinal stenosis of lumbar region|spinal stenosis of lumbar region of vertebral column MONDO:0005189 internal carotid artery stenosis biolink:Disease mondo ICD9:433.10|SCTID:233964008|EFO:0002615|Wikipedia:Carotid_artery_stenosis Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta. SNOMEDCT:233964008 http://purl.obolibrary.org/obo/MONDO_0005189 MONDO:0005188 iatrogenic Kaposi's sarcoma biolink:Disease mondo NCIT:C35873|UMLS:C1334149|EFO:0002613 A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment. UMLS:C1334149|NCIT:C35873 http://purl.obolibrary.org/obo/MONDO_0005188 iatrogenic Kaposi sarcoma|iatrogenic Kaposi's sarcoma GO:0007499 ectoderm and mesoderm interaction biolink:OntologyClass mondo A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm. http://purl.obolibrary.org/obo/GO_0007499 ectoderm/mesoderm interaction GO:0007498 mesoderm development biolink:OntologyClass mondo The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. http://purl.obolibrary.org/obo/GO_0007498 HGNC:10801 SFTPB biolink:OntologyClass mondo http://identifiers.org/hgnc/10801 HGNC:10802 SFTPC biolink:OntologyClass mondo http://identifiers.org/hgnc/10802 MONDO:0005185 chronic childhood arthritis biolink:Disease mondo EFO:0002609|SCTID:410793008|Wikipedia:Juvenile_idiopathic_arthritis|NCIT:C27179 An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. NCIT:C27179|SNOMEDCT:410793008 http://purl.obolibrary.org/obo/MONDO_0005185 Juvenile rheumatoid arthritis|Juvenile rheumatoid arthritis (AQ)|JRA|Juvenile rheumatoid arthritis HGNC:10807 SGCD biolink:OntologyClass mondo http://identifiers.org/hgnc/10807 CHEBI:67079 anti-inflammatory agent biolink:ChemicalSubstance mondo Any compound that has anti-inflammatory effects. http://purl.obolibrary.org/obo/CHEBI_67079 anti-inflammatory agents|antiinflammatory agent|antiinflammatory agents MONDO:0005184 pancreatic ductal adenocarcinoma biolink:Disease mondo ICD9:157.3|DOID:3498|NCIT:C9120|ICD10:C25.3|EFO:0002517|UMLS:C0887833|MESH:D021441|UMLS:C1335302|DOID:3587 An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor. UMLS:C1335302|MESH:D021441|UMLS:C0887833|NCIT:C9120|DOID:3587|DOID:3498 http://purl.obolibrary.org/obo/MONDO_0005184 pancreatic ductal adenocarcinoma|pancreatic ductal carcinoma|ductal adenocarcinoma of pancreas|pancreatic duct adenocarcinoma|ductal adenocarcinoma of the pancreas|pancreatic infiltrating duct carcinoma, not otherwise specified|pancreatic duct cancer|pancreatic tubular adenocarcinoma|malignant neoplasm of duct of Wirsung|pancreas ductal adenocarcinoma|pancreatic infiltrating duct carcinoma, NOS HGNC:10808 SGCE biolink:OntologyClass mondo http://identifiers.org/hgnc/10808 HGNC:10805 SGCA biolink:OntologyClass mondo http://identifiers.org/hgnc/10805 MONDO:0005187 human herpesvirus 8 infection biolink:Disease mondo NCIT:C39291|EFO:0002612|UMLS:C1512508 An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma. NCIT:C39291|UMLS:C1512508 http://purl.obolibrary.org/obo/MONDO_0005187 HHV8 infection|Human Herpes Virus 8 infection|Human Herpesvirus 8 infection MONDO:0044751 chronic diarrheal disease biolink:Disease mondo UMLS:C0401151|SCTID:236071009 Chronic form of diarrheal disease. UMLS:C0401151|SNOMEDCT:236071009 http://purl.obolibrary.org/obo/MONDO_0044751 diarrheal disease, chronic|chronic diarrhea HGNC:10806 SGCB biolink:OntologyClass mondo http://identifiers.org/hgnc/10806 MONDO:0005186 cocaine dependence biolink:Disease mondo SCTID:31956009|ICD9:304.2|ICD10:F14.2|NCIT:C34492|ICD9:304.20|DOID:9975|EFO:0002610 A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance. SNOMEDCT:31956009|DOID:9975|NCIT:C34492 http://purl.obolibrary.org/obo/MONDO_0005186 cocaine addiction MONDO:0044750 lassa virus infectious disease biolink:Disease mondo UMLS:C1617072|SCTID:721779001 UMLS:C1617072|SNOMEDCT:721779001 http://purl.obolibrary.org/obo/MONDO_0044750 Lassa virus infection|infection caused by Lassa virus MONDO:0005181 progressive external ophthalmoplegia biolink:Disease mondo EFO:0002509|ICD9:378.72|HP:0000590|MESH:D017246|GARD:0004503|Orphanet:520820|ICD10:H49.4|SCTID:46252003|DOID:12558|COHD:379027 A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) DOID:12558|MESH:D017246|SNOMEDCT:46252003|ORPHA:520820 http://purl.obolibrary.org/obo/MONDO_0005181 progressive external ophthalmoplegia|chronic progressive external ophthalmoplegia [ambiguous]|chronic progressive external ophthalmoplegia ordo_group_of_disorders MONDO:0044749 X-linked congenital stationary night blindness biolink:Disease mondo UMLS:CN043584|GARD:0003995 X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. UMLS:CN043584 http://purl.obolibrary.org/obo/MONDO_0044749 congenital stationary night blindness, X-linked|XLCSNB|X-linked CSNB gard_rare MONDO:0005180 Parkinson disease biolink:Disease mondo ICD9:332.0|NIFSTD:birnlex_2098|OMIMPS:168600|ICD9:332|NCIT:C26845|DOID:14330|EFO:0002508|SCTID:49049000|MESH:D010300|KEGG:05012|ICD10:G20|UMLS:C0030567|COHD:381270 A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. NCIT:C26845|SNOMEDCT:49049000|UMLS:C0030567|DOID:14330|MESH:D010300 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson's disease|paralysis agitans MONDO:0005183 ovarian cystadenoma biolink:Disease mondo SCTID:198297004|NCIT:C4060|ICD9:620.2|DOID:3269|UMLS:C0346169|EFO:0002511 A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells. NCIT:C4060|UMLS:C0346169|SNOMEDCT:198297004|DOID:3269 http://purl.obolibrary.org/obo/MONDO_0005183 cystadenoma of the ovary|cystadenoma of ovary|benign cystadenoma of the ovary|benign ovarian cystadenoma|benign cystadenoma of ovary|ovary cystadenoma|ovarian cystadenoma|cystoma serosum simplex|simple cystoma of ovary|simple ovarian cystoma|simple cystoma of the ovary MONDO:0005182 serous cystadenofibroma biolink:Disease mondo EFO:0002510 A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well. http://purl.obolibrary.org/obo/MONDO_0005182 MONDO:0044746 zoonotic bacterial infection biolink:Disease mondo NCIT:C35373|UMLS:C0311376 A bacterial infection that is transmitted from animals to people. UMLS:C0311376|NCIT:C35373 http://purl.obolibrary.org/obo/MONDO_0044746 Bacteria caused zoonoses|zoonotic bacterial infection|zoonotic bacterial disease|Bacteria zoonoses MONDO:0044745 nervous system injury biolink:Disease mondo SCTID:128239009|MESH:D020196 Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures. MESH:D020196|SNOMEDCT:128239009 http://purl.obolibrary.org/obo/MONDO_0044745 craniocervical injury|nervous system Traumas|nervous system trauma|injury, nervous system|nervous system injury|injury, craniocervical|craniocervical Injuries|nervous system Injuries|injury of nervous system|Injuries, craniocervical|Injuries, nervous system MONDO:0044748 anaplasmosis in cattle biolink:Disease mondo MESH:D000712 A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA. MESH:D000712 http://purl.obolibrary.org/obo/MONDO_0044748 Anaplasmoses MONDO:0044747 human anaplasmosis biolink:Disease mondo SCTID:427481004|ICD9:082.49|NCIT:C128425 An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia. NCIT:C128425|SNOMEDCT:427481004 http://purl.obolibrary.org/obo/MONDO_0044747 Anaplasmoses|human anaplasmosis|anaplasmosis MONDO:0017178 osteochondritis dissecans (disease) biolink:Disease mondo MESH:D010008|Orphanet:251262|OMIM:165800|COHD:437359|ICD9:732.7|DOID:84|GARD:0004133|NCIT:C34878|MedDRA:10031231|SCTID:82562007|ICD10:M93.9|UMLS:C0029421|ICD10:M93.2|Orphanet:2764|HP:0010886 Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis. MESH:D010008|http://identifiers.org/omim/165800|ORPHA:251262|MEDDRA:10031231|UMLS:C0029421|DOID:84|SNOMEDCT:82562007|ORPHA:2764|NCIT:C34878 http://purl.obolibrary.org/obo/MONDO_0017178 osteochondritis dissecans|familial osteochondritis dissecans|SSOAOD|osteochondritis DISSECANS, short stature, and early-onset osteoarthritis|osteochondritis DISSECANS, short stature, and early-onset osteoarthritis; OD|OCD|osteochondritis dissecans and short stature|König disease|OD|Koenig disease|short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans|short stature and advanced bone AGE, with or without early-onset osteoarthritis and/OR osteochondritis DISSECANS; SSOAOD|Konig disease ordo_disease MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment biolink:Disease mondo OMIM:618480 http://identifiers.org/omim/618480 http://purl.obolibrary.org/obo/MONDO_0032775 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; NEDSSWI MONDO:0032776 deafness, autosomal recessive 99 biolink:Disease mondo OMIM:618481 http://identifiers.org/omim/618481 http://purl.obolibrary.org/obo/MONDO_0032776 DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99 MONDO:0017179 limbic encephalitis with caspr2 antibodies biolink:Disease mondo ICD10:G13.1|SCTID:763793004|Orphanet:276402 Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia. ORPHA:276402|SNOMEDCT:763793004 http://purl.obolibrary.org/obo/MONDO_0017179 ordo_disease MONDO:0032773 uridine-cytidineuria biolink:Disease mondo OMIM:618477 http://identifiers.org/omim/618477 http://purl.obolibrary.org/obo/MONDO_0032773 URIDINE-CYTIDINEURIA; URCTU MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome biolink:Disease mondo OMIM:618479 http://identifiers.org/omim/618479 http://purl.obolibrary.org/obo/MONDO_0032774 CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME; COFG MONDO:0017174 Machado-Joseph disease type 1 biolink:Disease mondo SCTID:91953003|Orphanet:276238|ICD10:G11.8 Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs. ORPHA:276238|UMLS:C0751668|SNOMEDCT:91953003 http://purl.obolibrary.org/obo/MONDO_0017174 azorean disease, type i|spinocerebellar ataxia type 3, Joseph type|SCA3, Joseph type ordo_clinical_subtype MONDO:0032771 paragangliomas 7 biolink:Disease mondo OMIM:618475 http://identifiers.org/omim/618475 http://purl.obolibrary.org/obo/MONDO_0032771 PARAGANGLIOMAS 7; PGL7 MONDO:0017175 Machado-Joseph disease type 2 biolink:Disease mondo Orphanet:276241|ICD10:G11.8|SCTID:91954009 Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. ORPHA:276241|SNOMEDCT:91954009|UMLS:C0751669 http://purl.obolibrary.org/obo/MONDO_0017175 spinocerebellar ataxia, Thomas type|SCA3, Thomas type|azorean disease, type ii ordo_clinical_subtype MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis biolink:Disease mondo OMIM:618476 http://identifiers.org/omim/618476 http://purl.obolibrary.org/obo/MONDO_0032772 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS; BANDDOS MONDO:0017176 Machado-Joseph disease type 3 biolink:Disease mondo SCTID:91955005|ICD10:G11.8|Orphanet:276244 Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. ORPHA:276244|SNOMEDCT:91955005|UMLS:C0751670 http://purl.obolibrary.org/obo/MONDO_0017176 SCA3, Machado type|spinocerebellar ataxia type 3, Machado type|azorean disease, type iii ordo_clinical_subtype MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome biolink:Disease mondo Orphanet:276280|UMLS:CN202613|ICD10:Q87.3 Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated. ORPHA:276280|UMLS:CN202613 http://purl.obolibrary.org/obo/MONDO_0017177 HHML ordo_malformation_syndrome MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects biolink:Disease mondo OMIM:618470 http://identifiers.org/omim/618470 http://purl.obolibrary.org/obo/MONDO_0032770 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD MONDO:0017160 behavioral variant of frontotemporal dementia biolink:Disease mondo ICD10:G31.0|Orphanet:275864|SCTID:716994006|UMLS:C4011788 Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. UMLS:C4011788|ORPHA:275864|SNOMEDCT:716994006 http://purl.obolibrary.org/obo/MONDO_0017160 bv-FTD ordo_disease MONDO:0017161 frontotemporal dementia with motor neuron disease biolink:Disease mondo UMLS:C3888102|OMIMPS:105550|UMLS:CN239493|Orphanet:275872 Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset. ORPHA:275872|UMLS:C3888102|UMLS:CN239493 http://purl.obolibrary.org/obo/MONDO_0017161 frontotemporal dementia with ALS|FTD-MND|frontotemporal dementia with amyotrophic lateral sclerosis|FTDALS|FTD-ALS ordo_disease MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome biolink:Disease mondo UMLS:CN202584|GARD:0002989|Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. UMLS:CN202584|ORPHA:2759 http://purl.obolibrary.org/obo/MONDO_0017162 Seghers syndrome|imperforate oropharynx-costovertebral anomalies syndrome|imperforate oropharynx-costo vetebral anomalies ordo_malformation_syndrome MONDO:0030116 silver-russell syndrome 2 biolink:Disease mondo OMIM:618905 http://identifiers.org/omim/618905 http://purl.obolibrary.org/obo/MONDO_0030116 SILVER-RUSSELL SYNDROME 2; SRS2|silver-russell syndrome 2|Uniparental Disomy, Maternal, Chromosome 7|SRS2 MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies biolink:Disease mondo OMIM:618492 http://identifiers.org/omim/618492 http://purl.obolibrary.org/obo/MONDO_0032779 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 biolink:Disease mondo OMIM:618482 http://identifiers.org/omim/618482 http://purl.obolibrary.org/obo/MONDO_0032777 Gefs+, Type 10|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10; GEFSP10 MONDO:0030118 silver-russell syndrome 4 biolink:Disease mondo OMIM:618907 http://identifiers.org/omim/618907 http://purl.obolibrary.org/obo/MONDO_0030118 SILVER-RUSSELL SYNDROME 4; SRS4|silver-russell syndrome 4|SRS4 MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type biolink:Disease mondo OMIM:618484 http://identifiers.org/omim/618484 http://purl.obolibrary.org/obo/MONDO_0032778 AMCM|arthrogryposis multiplex congenita, myogenic type MONDO:0029145 orofacial cleft 8 biolink:Disease mondo OMIM:618149 http://identifiers.org/omim/618149 http://purl.obolibrary.org/obo/MONDO_0029145 OROFACIAL CLEFT 8; OFC8|OFC8|Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8 MONDO:0044764 benign choroid plexus neoplasm biolink:Disease mondo UMLS:C0346290|NCIT:C8405|SCTID:254943007 UMLS:C0346290|SNOMEDCT:254943007|NCIT:C8405 http://purl.obolibrary.org/obo/MONDO_0044764 benign choroid plexus neoplasms|benign choroid plexus neoplasm|benign choroid plexus tumors|benign tumor of choroid plexus|benign tumor of the choroid plexus|benign neoplasm of choroid plexus|benign choroid plexus tumor|benign neoplasm of the choroid plexus MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency biolink:Disease mondo OMIM:618148 http://identifiers.org/omim/618148 http://purl.obolibrary.org/obo/MONDO_0029144 MTO Deficiency|EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO|EHMTO|extraoral halitosis with dimethylsulfoxiduria|METHANETHIOL Oxidase Deficiency MONDO:0044763 diarrheal disease secondary to decreased bowel motility biolink:Disease mondo A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion. http://purl.obolibrary.org/obo/MONDO_0044763 diarrhea from decreased bowel motility MONDO:0005199 obsolete peripartum cardiomyopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005199 MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies biolink:Disease mondo OMIM:618147 http://identifiers.org/omim/618147 http://purl.obolibrary.org/obo/MONDO_0029143 chromosome 14q32 deletion syndrome|IDDHDF|INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF MONDO:0044766 obsolete Marfan Syndrome 3 biolink:Disease mondo GTR:AN0100578|GTR:AN0100577|UMLS:CN035813 UMLS:CN035813 http://purl.obolibrary.org/obo/MONDO_0044766 Marfan syndrome type 3|MFS 3 MONDO:0044765 steroid-resistant nephrotic syndrome biolink:Disease mondo UMLS:CN034406|SCTID:236381000|NCIT:C122798|GTR:AN0096395|GTR:AN0200342|GTR:AN0255485|GTR:AN0096391 Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. SNOMEDCT:236381000|UMLS:CN034406|NCIT:C122798 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-unresponsive nephrotic syndrome|nephrotic syndrome of childhood - steroid resistant|nephrotic syndrome, steroid-resistant, autosomal recessive|steroid-resistant nephrotic syndrome|NPHS2|nephrotic syndrome-steroid-resistant|nephrotic syndrome, idiopathic, steroid-resistant|SRNS - steroid-resistant nephrotic syndrome MONDO:0029142 deafness, autosomal recessive 111 biolink:Disease mondo OMIM:618145 http://identifiers.org/omim/618145 http://purl.obolibrary.org/obo/MONDO_0029142 DFNB111|deafness, autosomal recessive 111; DFNB111 MONDO:0005196 obsolete teratozoospermia biolink:Disease mondo UMLS:C0403824|EFO:0002625|SCTID:236817003|MP:0005578 Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends UMLS:C0403824|SNOMEDCT:236817003 http://purl.obolibrary.org/obo/MONDO_0005196 HGNC:10818 SGSH biolink:OntologyClass mondo http://identifiers.org/hgnc/10818 MONDO:0005195 septic peritonitis biolink:Disease mondo Wikipedia:Septic_peritonitis|EFO:0002623|PMID:22911262 Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis. http://purl.obolibrary.org/obo/MONDO_0005195 MONDO:0029148 spermatogenic failure 34 biolink:Disease mondo OMIM:618153 http://identifiers.org/omim/618153 http://purl.obolibrary.org/obo/MONDO_0029148 SPGF34|SPERMATOGENIC FAILURE 34; SPGF34 MONDO:0005198 vulvar intraepithelial neoplasia biolink:Disease mondo Orphanet:137583|EFO:0002627|NCIT:C4756|UMLS:C0346210|ICD10:D07.1 Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type. UMLS:C0346210|NCIT:C4756|ORPHA:137583 http://purl.obolibrary.org/obo/MONDO_0005198 squamous vulvar intraepithelial neoplasia|vulvar intraepithelial tumor|vulva intraepithelial neoplasia|VIN|vulval intraepithelial neoplasia|intraepithelial neoplasia of the vulva|intraepithelial neoplasia of vulva ordo_disease MONDO:0044762 diarrheal disease secondary to increased bowel motility biolink:Disease mondo DOID:0050131 A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease. DOID:0050131 http://purl.obolibrary.org/obo/MONDO_0044762 motility-related diarrhea|diarrhea from increased bowel motility MONDO:0029147 spermatogenic failure 33 biolink:Disease mondo OMIM:618152 http://identifiers.org/omim/618152 http://purl.obolibrary.org/obo/MONDO_0029147 SPERMATOGENIC FAILURE 33; SPGF33|SPGF33 HGNC:10817 SGPL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10817 MONDO:0005197 thymus neoplasm biolink:Disease mondo EFO:0002626|NCIT:C3412|ONCOTREE:THYMUS|UMLS:C3714644|SCTID:127231009|ICD9:239.89|Orphanet:100100 A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma. ORPHA:100100|NCIT:C3412|SNOMEDCT:127231009|UMLS:C3714644 http://purl.obolibrary.org/obo/MONDO_0005197 Thymus tumor|thymic neoplasm|neoplasm of the Thymus|thymus neoplasm (disease)|Thymus neoplasm|neoplasm of thymus|thymus tumor|tumor of Thymus|tumor of the Thymus|THYMUS|thymic tumor|tumor of thymus|neoplasm of Thymus ordo_group_of_disorders MONDO:0029146 obsolete Saul-Wilson syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0029146 MONDO:0005192 exocrine pancreatic carcinoma biolink:Disease mondo SCTID:372142002|DOID:4905|EFO:0002618|UMLS:C0235974|NCIT:C3850 A carcinoma that arises from epithelial cells of the exocrine pancreas NCIT:C3850|SNOMEDCT:372142002|DOID:4905|UMLS:C0235974 http://purl.obolibrary.org/obo/MONDO_0005192 exocrine cancer|pancreatic cancer|pancreatic cancer (excluding islets), NOS|exocrine pancreas carcinoma|pancreatic cancer|carcinoma of pancreas|pancreas carcinoma|pancreas cancer|pancreatic carcinoma, familial|cancer of pancreas|pancreatic cancer (not islets)|cancer of the pancreas|pancreatic carcinoma|pancreas cancer|cancer of pancreas|cancer of the pancreas|exocrine cancer|carcinoma of the pancreas|carcinoma of exocrine pancreas MONDO:0005191 metastatic melanoma biolink:Disease mondo EFO:0002617|SCTID:443493003|UMLS:C0278883|NCIT:C8925 A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. UMLS:C0278883|SNOMEDCT:443493003|NCIT:C8925 http://purl.obolibrary.org/obo/MONDO_0005191 metastatic melanoma|metastatic malignant melanoma MONDO:0005194 Rotavirus infection biolink:Disease mondo MESH:D012400|SCTID:18624000|ICD9:078.89|EFO:0002622|UMLS:C0035869 Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice. UMLS:C0035869|MESH:D012400|SNOMEDCT:18624000 http://purl.obolibrary.org/obo/MONDO_0005194 Rotavirus infectious disease|Rotavirus caused disease or disorder|Rotavirus disease or disorder MONDO:0005193 prostate intraepithelial neoplasia biolink:Disease mondo UMLS:C0282612|MP:0009219|MESH:D019048|NCIT:C4064|EFO:0002621|SCTID:254901000 A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade. NCIT:C4064|SNOMEDCT:254901000|UMLS:C0282612|MESH:D019048 http://purl.obolibrary.org/obo/MONDO_0005193 prostate intraepithelial neoplasia (pin)|pin|pin - prostatic intraepithelial neoplasia|prostatic intraepithelial neoplasia|prostate intraepithelial neopl. GO:0044419 biological process involved in interspecies interaction between organisms biolink:OntologyClass mondo Any process evolved to enable an interaction with an organism of a different species. http://purl.obolibrary.org/obo/GO_0044419 interspecies interaction with other organisms|interaction with another species|interspecies interaction|interspecies interaction between organisms MONDO:0029141 usher syndrome, type 4 biolink:Disease mondo OMIM:618144 http://identifiers.org/omim/618144 http://purl.obolibrary.org/obo/MONDO_0029141 USH4|USHER SYNDROME, TYPE IV; USH4 MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 biolink:Disease mondo OMIM:618143 http://identifiers.org/omim/618143 http://purl.obolibrary.org/obo/MONDO_0029140 GPIBD18|glycosylphosphatidylinositol biosynthesis defect 18; GPIBD18 MONDO:0005190 macroglobulinemia biolink:Disease mondo EFO:0002616|ICD10:C88.0|SCTID:190817009|Wikipedia:Macroglobulinemia|ICD9:273.3|COHD:435502|DOID:9080 Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life. SNOMEDCT:190817009|DOID:9080 http://purl.obolibrary.org/obo/MONDO_0005190 primary macroglobulinemia HGNC:10820 SH2D1A biolink:OntologyClass mondo http://identifiers.org/hgnc/10820 MONDO:0017167 malignant epithelial tumor of salivary glands biolink:Disease mondo Orphanet:276145|ICD10:C08.8|UMLS:CN202591|ICD10:C08.1|ICD10:C08.0|ICD10:C07 ORPHA:276145|UMLS:CN202591 http://purl.obolibrary.org/obo/MONDO_0017167 malignant epithelial tumor of the salivary glands ordo_disease MONDO:0032786 Noonan syndrome 11 biolink:Disease mondo OMIM:618499 http://identifiers.org/omim/618499 http://purl.obolibrary.org/obo/MONDO_0032786 NOONAN SYNDROME 11; NS11 MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis biolink:Disease mondo OMIM:618500 http://identifiers.org/omim/618500 http://purl.obolibrary.org/obo/MONDO_0032787 HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12 MONDO:0017168 benign epithelial tumor of salivary glands biolink:Disease mondo ICD10:D11.7|ICD10:D11.0|UMLS:CN202592|Orphanet:276148 ORPHA:276148|UMLS:CN202592 http://purl.obolibrary.org/obo/MONDO_0017168 ordo_disease MONDO:0017169 multiple endocrine neoplasia biolink:Disease mondo NCIT:C6432|OMIMPS:131100|ICD9:258.0|UMLS:C0027662|MedDRA:10061299|DC:0000291|Orphanet:276161|ICDO:8360/1|SCTID:46724008|ICD10:D44.8 Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs. MEDDRA:10061299|NCIT:C6432|ORPHA:276161|SNOMEDCT:46724008|UMLS:C0027662 http://purl.obolibrary.org/obo/MONDO_0017169 multiple endocrine adenomatosis|men|men syndrome|multiple endocrine neoplasia|multiple endocrine neoplasia syndrome(s)|men syndromes|multiple endocrine neoplasia syndrome ordo_group_of_disorders MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements biolink:Disease mondo OMIM:618497 http://identifiers.org/omim/618497 http://purl.obolibrary.org/obo/MONDO_0032784 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS; NEDNEH MONDO:0032785 polydactyly, postaxial, type a10 biolink:Disease mondo OMIM:618498 http://identifiers.org/omim/618498 http://purl.obolibrary.org/obo/MONDO_0032785 POLYDACTYLY, POSTAXIAL, TYPE A10; PAPA10 MONDO:0017163 hemolytic disease due to fetomaternal alloimmunization biolink:Disease mondo Orphanet:275938|ICD10:P55.9|ICD10:P55.8|ICD10:P55.1|ICD10:P55.0|UMLS:CN202585 ORPHA:275938|UMLS:CN202585 http://purl.obolibrary.org/obo/MONDO_0017163 hemolytic disease of the fetus and newborn ordo_group_of_disorders MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity biolink:Disease mondo OMIM:618495 http://identifiers.org/omim/618495 http://purl.obolibrary.org/obo/MONDO_0032782 Interleukin 2 Receptor, Beta, Deficiency of|Il2Rb Deficiency|Cd122 Deficiency|IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD63 MONDO:0032783 aortic valve disease 3 biolink:Disease mondo OMIM:618496 http://identifiers.org/omim/618496 http://purl.obolibrary.org/obo/MONDO_0032783 AORTIC VALVE DISEASE 3; AOVD3 MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization biolink:Disease mondo Orphanet:275944|ICD10:P55.8|UMLS:CN202586 ORPHA:275944|UMLS:CN202586 http://purl.obolibrary.org/obo/MONDO_0017164 anti-K HDN|maternal anti-Kell alloimmunization ordo_disease MONDO:0017165 bile acid CoA ligase deficiency and defective amidation biolink:Disease mondo Orphanet:276066|UMLS:C4274079|SCTID:717047007 Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure. ORPHA:276066|UMLS:C4274079|SNOMEDCT:717047007 http://purl.obolibrary.org/obo/MONDO_0017165 ordo_disease MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities biolink:Disease mondo OMIM:618493 http://identifiers.org/omim/618493 http://purl.obolibrary.org/obo/MONDO_0032780 HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES; HIDEA MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies biolink:Disease mondo OMIM:618494 http://identifiers.org/omim/618494 http://purl.obolibrary.org/obo/MONDO_0032781 CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES; CHEDDA MONDO:0017166 rare tumor of salivary glands biolink:Disease mondo Orphanet:276142 ORPHA:276142 http://purl.obolibrary.org/obo/MONDO_0017166 obsoletion_candidate|ordo_group_of_disorders MONDO:0005208 amelanotic skin melanoma biolink:Disease mondo UMLS:C0349515|EFO:0002894|Wikipedia:Amelanotic_melanoma|DOID:10054|NCIT:C4633 A amelanotic melanoma that involves the zone of skin. UMLS:C0349515|DOID:10054|NCIT:C4633 http://purl.obolibrary.org/obo/MONDO_0005208 amelanotic malignant melanoma of skin|amelanotic melanoma of skin|amelanotic malignant melanoma of the skin|amelanotic melanoma of the skin|amelanotic melanoma of zone of skin|skin amelanotic melanoma|amelanotic skin melanoma|amelanotic cutaneous (skin) melanoma|amelanotic malignant skin melanoma|zone of skin amelanotic melanoma|skin amelanotic malignant melanoma|amelanotic malignant melanoma (of skin) MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 biolink:Disease mondo OMIM:618596 http://identifiers.org/omim/618596 http://purl.obolibrary.org/obo/MONDO_0032827 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16 MF:0000013 thinking biolink:OntologyClass mondo a mental process that involves the manipulation of mental language and/or mental images http://purl.obolibrary.org/obo/MF_0000013 MONDO:0005207 choriocarcinoma (disease) biolink:Disease mondo SCTID:188188009|MESH:D002822|HP:0100768|ICDO:9100/3|DOID:3594|UMLS:C0008497|EFO:0002893|ONCOTREE:BCCA|GARD:0006059|NCIT:C2948|ICD10:C58 An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. NCIT:C2948|UMLS:C0008497|DOID:3594|SNOMEDCT:188188009|MESH:D002822 http://purl.obolibrary.org/obo/MONDO_0005207 choriocarcinoma|chorioepithelioma|choriocarcinoma, malignant|chorionic carcinoma|chorioblastoma|chorion carcinoma MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive biolink:Disease mondo OMIM:618598 http://identifiers.org/omim/618598 http://purl.obolibrary.org/obo/MONDO_0032828 Sod1 Deficiency, Autosomal Recessive|SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP MONDO:0007869 Kyrle disease biolink:Disease mondo OMIM:149500|SCTID:34042008|GARD:0009738|UMLS:C0263382|MESH:C538130 Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop. http://identifiers.org/omim/149500|SNOMEDCT:34042008|UMLS:C0263382|MESH:C538130 http://purl.obolibrary.org/obo/MONDO_0007869 Kyrle's disease|hyperkeratosis follicularis et parafollicularis in cutem penetrans|Kyrle disease gard_rare HGNC:10908 SLC11A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10908 MONDO:0005209 obsolete cutaneous T-cell lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005209 HGNC:10909 SLC40A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10909 MONDO:0032826 nephrotic syndrome, type 21 biolink:Disease mondo OMIM:618594 http://identifiers.org/omim/618594 http://purl.obolibrary.org/obo/MONDO_0032826 NEPHROTIC SYNDROME, TYPE 21; NPHS21 MONDO:0007867 nonsyndromic congenital nail disorder 2 biolink:Disease mondo SCTID:66270006|OMIM:149300|DOID:0080080|GARD:0009760|ICD9:703.8|MESH:C537260 DOID:0080080|MESH:C537260|SNOMEDCT:66270006|http://identifiers.org/omim/149300 http://purl.obolibrary.org/obo/MONDO_0007867 NDNC2|nonsyndromic congenital nail disorder type 2|hereditary koilonychia|nail disorder, nonsyndromic congenital, 2|congenital koilonychia|spoon nails|Koilonychia with leukonychia|Koilonychia, hereditary|familial koilonychia|nail disorder, nonsyndromic congenital, 2; NDNC2 MONDO:0032823 intellectual developmental disorder 60 with seizures biolink:Disease mondo OMIM:618587 http://identifiers.org/omim/618587 http://purl.obolibrary.org/obo/MONDO_0032823 INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES; MRD60|Mental Retardation, Autosomal Dominant 60, With Seizures NCBITaxon:29031 Phlebotomus papatasi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29031 Phlebotomus papatasii|Phlebotomus (Phlebotomus) papatasi MONDO:0005204 primary antiphospholipid syndrome biolink:Disease mondo SCTID:239892009|UMLS:C0409980|EFO:0002689|ICD9:795.79 An antiphospholipid syndrome that occurs as an isolated disorder. UMLS:C0409980|SNOMEDCT:239892009 http://purl.obolibrary.org/obo/MONDO_0005204 MONDO:0005203 ischemia reperfusion injury biolink:Disease mondo MESH:D015427|PMID:10685060|EFO:0002687 Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury. MESH:D015427 http://purl.obolibrary.org/obo/MONDO_0005203 MONDO:0007868 hyperekplexia 1 biolink:Disease mondo ICD10:G25.8|DOID:0060696|OMIM:149400 A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. http://identifiers.org/omim/149400|DOID:0060696 http://purl.obolibrary.org/obo/MONDO_0007868 hyperekplexia 1; HKPX1|HKPX1|Stiff-baby syndrome|Stiff-Man syndrome, congenital|Kok disease|exaggerated startle reaction|hyperekplexia, hereditary 1|hyperekplexia type 1|Stiff-Person syndrome, congenital|Sthe|hyperekplexia, hereditary type 1|startle reaction, exaggerated|hyperekplexia, hereditary 1; HKPX1|startle disease, familial MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 biolink:Disease mondo OMIM:618590 http://identifiers.org/omim/618590 http://purl.obolibrary.org/obo/MONDO_0032824 Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21; GPIBD21 MONDO:0005206 renal carcinoma biolink:Disease mondo NCIT:C9384|UMLS:C1378703|EFO:0002890|DOID:4451 A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. NCIT:C9384|DOID:4451|UMLS:C1378703 http://purl.obolibrary.org/obo/MONDO_0005206 renal cancer|kidney (renal) cancer|carcinoma of kidney|renal carcinoma|kidney cancer|kidney (including renal cell) cancer|kidney cancer, NOS|kidney carcinoma MONDO:0007865 knuckle pads biolink:Disease mondo OMIM:149100|UMLS:C0264000|ICD9:728.79|SCTID:16687001|ICD10:M72.1 SNOMEDCT:16687001|http://identifiers.org/omim/149100|UMLS:C0264000 http://purl.obolibrary.org/obo/MONDO_0007865 knuckle pads MONDO:0032821 myopathy, congenital, progressive, with scoliosis biolink:Disease mondo OMIM:618578 http://identifiers.org/omim/618578 http://purl.obolibrary.org/obo/MONDO_0032821 MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO UBERON:0016481 bronchial lymph node biolink:AnatomicalEntity mondo A lymph node that is part of a bronchus. http://purl.obolibrary.org/obo/UBERON_0016481 MONDO:0007866 Bart-Pumphrey syndrome biolink:Disease mondo SCTID:1271009|Orphanet:2698|OMIM:149200|ICD9:759.89|MESH:C537210|GARD:0003125|ICD10:Q82.8|DOID:0050658 DOID:0050658|UMLS:C0266004|SNOMEDCT:1271009|MESH:C537210|ORPHA:2698|http://identifiers.org/omim/149200 http://purl.obolibrary.org/obo/MONDO_0007866 Bart-Pumphrey syndrome|knuckle pads, leukonychia, and sensorineural deafness|knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome|knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome|knuckle pads, leuconychia and sensorineural deafness ordo_disease MONDO:0005205 obsolete systemic lupus erythematosus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005205 MONDO:0032822 developmental and epileptic encephalopathy, 80 biolink:Disease mondo OMIM:618580 http://identifiers.org/omim/618580 http://purl.obolibrary.org/obo/MONDO_0032822 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80; EIEE80|Glycosylphosphatidylinositol Biosynthesis Defect 20|epileptic encephalopathy, early infantile, 80|DEE80 CHEBI:33635 polycyclic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compounds MONDO:0007863 Kleine-Levin syndrome biolink:Disease mondo MESH:D017593|NCIT:C84800|DOID:0060165|MedDRA:10053712|UMLS:C0206085|OMIM:148840|Orphanet:33543|ICD10:G47.8|EFO:1001354|GARD:0003117|SCTID:111488004 Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances. DOID:0060165|http://identifiers.org/omim/148840|MESH:D017593|SNOMEDCT:111488004|NCIT:C84800|ORPHA:33543|MEDDRA:10053712|UMLS:C0206085 http://purl.obolibrary.org/obo/MONDO_0007863 Kleine-Levin syndrome|Kleine Levin syndrome|familial Kleine-Levin syndrome|familial hibernation syndrome|Kleine-LEVIN hibernation syndrome ordo_disease|gard_rare MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures biolink:Disease mondo OMIM:618056|UMLS:CN252657 http://identifiers.org/omim/618056|UMLS:CN252657 http://purl.obolibrary.org/obo/MONDO_0020841 NEDCAS|neurodevelopmental disorder with cerebellar atrophy and with or without seizures; NEDCAS MONDO:0005200 viral dilated cardiomyopathy biolink:Disease mondo EFO:0002629|UMLS:C0264797|SCTID:30496006|Wikipedia:Viral_cardiomyopathy An dilated cardiomyopathy caused by infection with Viruses. UMLS:C0264797|SNOMEDCT:30496006 http://purl.obolibrary.org/obo/MONDO_0005200 Viruses caused dilated cardiomyopathy|Viruses dilated cardiomyopathy MONDO:0007864 angioosteohypertrophic syndrome biolink:Disease mondo Orphanet:2346|MESH:D007715|NCIT:C84801|EFO:0007334|GARD:0003122|DOID:2926|UMLS:C0022739|MedDRA:10051452|ICD10:Q87.2|SCTID:721105004|UMLS:CN201567|OMIM:149000 Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. SNOMEDCT:721105004|MESH:D007715|UMLS:C0022739|DOID:2926|NCIT:C84801|ORPHA:2346|UMLS:CN201567|http://identifiers.org/omim/149000|MEDDRA:10051452 http://purl.obolibrary.org/obo/MONDO_0007864 KTS|Ktw syndrome|Klippel-Trénaunay-Weber syndrome|angioosteohypertrophy syndrome|Klippel Trenaunay syndrome|Klippel-Trenaunay syndrome|Klippel-Trenaunay-Weber syndrome|Weber-Klippel-Trenaunay|angioosteohypertrophy syndrome|haemangiectatic hypertrophy|Klippel-Trénaunay syndrome|angio-osteohypertrophy syndrome ordo_clinical_subtype|gard_rare|ordo_disease CHEBI:33636 bicyclic compound biolink:ChemicalSubstance mondo A molecule that features two fused rings. http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compounds MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia biolink:Disease mondo OMIM:618042|UMLS:CN248786 http://identifiers.org/omim/618042|UMLS:CN248786 http://purl.obolibrary.org/obo/MONDO_0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia; PAPHG|PAPHG MONDO:0005202 atopic IgE-mediated allergic disorder biolink:Disease mondo UMLS:C1706410|ICD9:995.3|SCTID:115665000|EFO:0002686 A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms. UMLS:C1706410|SNOMEDCT:115665000|NCIT:C41366 http://purl.obolibrary.org/obo/MONDO_0005202 Atopic allergy|atopic state|atopy MONDO:0007861 isolated cloverleaf skull syndrome biolink:Disease mondo MESH:C536884|OMIM:148800|SCTID:254022009|ICD10:Q75.0|Orphanet:2343|UMLS:CN201565|GARD:0003115 Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation. MESH:C536884|http://identifiers.org/omim/148800|SNOMEDCT:254022009|ORPHA:2343|UMLS:CN201565 http://purl.obolibrary.org/obo/MONDO_0007861 Kleeblattschaedel deformity syndrome|Kleeblattschaedel-deformity syndrome|cloverleaf skull|KLEEBLATTSCHAEDEL|Kleeblattschaedel syndrome|cloverleaf skull syndrome|isolated cloverleaf skull syndrome|Kleeblattschadel gard_rare|ordo_morphological_anomaly CHEBI:33637 ortho-fused compound biolink:ChemicalSubstance mondo A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compounds|ortho-fused polycyclic compounds MONDO:0005201 restrictive cardiomyopathy biolink:Disease mondo EFO:0002630|ICD9:425.4|DOID:397|Orphanet:217632|MedDRA:10038748|NCIT:C62798|SCTID:415295002|MESH:D002313|ICD10:I42.5|UMLS:C0007196 A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. UMLS:C0007196|NCIT:C62798|SNOMEDCT:415295002|ORPHA:217632|MESH:D002313|MEDDRA:10038748|DOID:397 http://purl.obolibrary.org/obo/MONDO_0005201 primary restrictive cardiomyopathy|cardiomyopathy, constrictive|familial restrictive cardiomyopathy|restrictive cardiomyopathy ordo_group_of_disorders MONDO:0007862 Waardenburg syndrome type 3 biolink:Disease mondo OMIM:148820|GARD:0005523|DOID:0110949|ICD10:E70.3|Orphanet:896 Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. ORPHA:896|http://identifiers.org/omim/148820|DOID:0110949 http://purl.obolibrary.org/obo/MONDO_0007862 Waardenburg syndrome, type 3|White forelock (poliosis) syndrome with multiple congenital malformations|WS3|Waardenburg syndrome with limb anomalies|Waardenburg syndrome type III|Klein-Waardenburg syndrome|Waardenburg syndrome with upper limb anomalies|Waardenburg syndrome, type 3; WS3 ordo_clinical_subtype|gard_rare HGNC:10906 SLC10A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10906 MONDO:0007860 focal palmoplantar and gingival keratoderma biolink:Disease mondo UMLS:C1835650|MESH:C536157|ICD10:Q82.8|GARD:0003098|OMIM:148730|Orphanet:2200|SCTID:764963007 Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. http://identifiers.org/omim/148730|UMLS:C1835650|SNOMEDCT:764963007|ORPHA:2200|MESH:C536157 http://purl.obolibrary.org/obo/MONDO_0007860 focal palmoplantar and gingival hyperkeratosis syndrome|keratosis, focal palmoplantar and gingival|focal palmoplantar and gingival hyperkeratosis|focal palmoplantar and oral mucosa hyperkeratosis|keratosis focal palmoplantar gingival gard_rare|ordo_disease HGNC:10907 SLC11A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10907 MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities biolink:Disease mondo OMIM:618603 http://identifiers.org/omim/618603 http://purl.obolibrary.org/obo/MONDO_0032829 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB MONDO:0020838 anterior nasal diphtheria biolink:Disease mondo NCIT:C34542|ICD9:032.2|UMLS:C0012553|SCTID:15682004 Infection of the anterior nasal structures by Corynebacterium diphtheriae. NCIT:C34542|UMLS:C0012553|SNOMEDCT:15682004 http://purl.obolibrary.org/obo/MONDO_0020838 anterior nasal diphtheria|Anterior Nasal Diphtheria|Anterior nasal diphtheria MONDO:0020837 oocyte maturation defect 5 biolink:Disease mondo OMIM:617996 http://identifiers.org/omim/617996 http://purl.obolibrary.org/obo/MONDO_0020837 OOMD5|oocyte maturation defect 5; OOMD5 MONDO:0019859 congenital thyroid malformation without hypothyroidism biolink:Disease mondo Orphanet:95718|ICD10:Q89.2 ORPHA:95718 http://purl.obolibrary.org/obo/MONDO_0019859 ordo_group_of_disorders MONDO:0044807 inherited dystonia biolink:Disease mondo UMLS:CN227322|Orphanet:391799|NCIT:C35527 An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. UMLS:CN227322|NCIT:C35527|ORPHA:391799 http://purl.obolibrary.org/obo/MONDO_0044807 rare genetic dystonia|hereditary dystonic disorder|familial dystonia|rare genetic dystonic disorder ordo_group_of_disorders MONDO:0020836 autism, susceptiblity to biolink:Disease mondo OMIMPS:209850 http://purl.obolibrary.org/obo/MONDO_0020836 predisposition MONDO:0020835 methemoglobinemia, alpha type biolink:Disease mondo OMIM:617973 http://identifiers.org/omim/617973 http://purl.obolibrary.org/obo/MONDO_0020835 methemoglobinemia, alpha type MONDO:0019856 primary congenital hypothyroidism without thyroid developmental anomaly biolink:Disease mondo ICD10:E03.1|ICD10:E03.0|Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal. ORPHA:95714 http://purl.obolibrary.org/obo/MONDO_0019856 ordo_group_of_disorders MONDO:0044800 desmoplastic spitz nevus biolink:Disease mondo UMLS:C1275419|NCIT:C82864|SCTID:400022009 A Spitz nevus associated with fibrous stroma formation. UMLS:C1275419|NCIT:C82864|SNOMEDCT:400022009 http://purl.obolibrary.org/obo/MONDO_0044800 Desmoplastic spitz Nevus MONDO:0019855 athyreosis biolink:Disease mondo ICD10:E03.1|Orphanet:95713 Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. ORPHA:95713 http://purl.obolibrary.org/obo/MONDO_0019855 ordo_morphological_anomaly HGNC:10910 SLC12A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10910 MONDO:0019858 idiopathic congenital hypothyroidism biolink:Disease mondo SCTID:717334008|Orphanet:95717|ICD10:E03.1|UMLS:C4273913 Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. SNOMEDCT:717334008|ORPHA:95717|UMLS:C4273913 http://purl.obolibrary.org/obo/MONDO_0019858 ordo_disease MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies biolink:Disease mondo SCTID:717333002|ICD10:P72.2|Orphanet:95715|UMLS:C4273914 Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent. SNOMEDCT:717333002|ORPHA:95715|UMLS:C4273914 http://purl.obolibrary.org/obo/MONDO_0019857 ordo_disease MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome biolink:Disease mondo OMIMPS:617660|Orphanet:521438 ORPHA:521438 http://purl.obolibrary.org/obo/MONDO_0020831 VCRL|vertebral, cardiac, renal, and limb defects syndrome ordo_malformation_syndrome MONDO:0019852 inherited primary ovarian failure biolink:Disease mondo Orphanet:95710|ICD10:E28.3 An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. ORPHA:95710 http://purl.obolibrary.org/obo/MONDO_0019852 non-acquired premature ovarian failure|hereditary primary ovarian failure ordo_group_of_disorders MONDO:0032830 snijders blok-fisher syndrome biolink:Disease mondo OMIM:618604 http://identifiers.org/omim/618604 http://purl.obolibrary.org/obo/MONDO_0032830 SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS MONDO:0032831 pontocerebellar hypoplasia, type 13 biolink:Disease mondo OMIM:618606 http://identifiers.org/omim/618606 http://purl.obolibrary.org/obo/MONDO_0032831 PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 MONDO:0019851 acquired primary ovarian failure biolink:Disease mondo ICD10:E28.8|Orphanet:95709|SCTID:717954003|UMLS:C4303540 An instance of primary ovarian failure that is acquired during the lifetime of the individual. ORPHA:95709|SNOMEDCT:717954003|UMLS:C4303540 http://purl.obolibrary.org/obo/MONDO_0019851 acquired premature ovarian failure|acquired primary ovarian failure ordo_group_of_disorders MONDO:0019854 thyroid ectopia biolink:Disease mondo ICD10:E03.1|Orphanet:95712 Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. ORPHA:95712 http://purl.obolibrary.org/obo/MONDO_0019854 ordo_morphological_anomaly MONDO:0019853 congenital hypothyroidism due to developmental anomaly biolink:Disease mondo ICD10:E03.1|Orphanet:95711 Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. ORPHA:95711 http://purl.obolibrary.org/obo/MONDO_0019853 primary congenital hypothyroidism due to developmental anomaly ordo_group_of_disorders FOODON:00001118 cattle dairy food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001118 MONDO:0044808 early onset primary dystonia biolink:Disease mondo NCIT:C116718 A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions. NCIT:C116718 http://purl.obolibrary.org/obo/MONDO_0044808 early onset torsion dystonia|Oppenheim's dystonia|early onset primary dystonia MF:0000008 cognitive process biolink:OntologyClass mondo A mental process that creates, modifies or has as participant some cognitive representation. http://purl.obolibrary.org/obo/MF_0000008 MONDO:0019850 obsolete precocious puberty biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019850 MONDO:0005219 breast fibrocystic disease biolink:Disease mondo EFO:0003014|ICD10:N60.1|DOID:10354|UMLS:C0016034|ICD10:N60|ICD9:610.1|COHD:78804|MESH:D005348|NCIT:C3039 Fibrosis associated with cyst formation in the breast parenchyma. MESH:D005348|UMLS:C0016034|NCIT:C3039|DOID:10354 http://purl.obolibrary.org/obo/MONDO_0005219 fibrocystic disease|fibrocystic change of breast|mammary dysplasia|fibrocystic change of the breast|diffuse cystic mastopathy|benign breast disease|fibrocystic breast changes|cystic disease of breast|fibrocystic disease of breast|cystic disease of the breast|fibrocystic breast|breast fibrocystic change|fibrocystic disease of the breast|fibrocystic mastopathy|fibrocystic breast disease MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies biolink:Disease mondo OMIM:618622 http://identifiers.org/omim/618622 http://purl.obolibrary.org/obo/MONDO_0032838 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA MONDO:0032839 noonan syndrome 12 biolink:Disease mondo OMIM:618624 http://identifiers.org/omim/618624 http://purl.obolibrary.org/obo/MONDO_0032839 NOONAN SYNDROME 12; NS12 MONDO:0005218 muscular disease biolink:Disease mondo MESH:D009135|EFO:0002970|DOID:0080000 Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. DOID:0080000|MESH:D009135 http://purl.obolibrary.org/obo/MONDO_0005218 muscle organ disease or disorder|disorder of muscle organ|disease of muscle organ|disorder of muscle organ|disease or disorder of muscle organ|muscle organ disease MONDO:0032836 weiss-kruszka syndrome biolink:Disease mondo OMIM:618619 http://identifiers.org/omim/618619 http://purl.obolibrary.org/obo/MONDO_0032836 WEISS-KRUSZKA SYNDROME; WSKA MONDO:0032837 abdominal obesity-metabolic syndrome 4 biolink:Disease mondo OMIM:618620 http://identifiers.org/omim/618620 http://purl.obolibrary.org/obo/MONDO_0032837 ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 MF:0000020 mental process biolink:OntologyClass mondo A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. http://purl.obolibrary.org/obo/MF_0000020 MONDO:0007878 congenital laryngomalacia biolink:Disease mondo MedDRA:10060786|ICD10:Q31.5|SCTID:253737007|GARD:0006865|OMIM:150280|NCIT:C98971|Orphanet:2373|COHD:4113306|MESH:D055092|ICD9:748.3 Increased collapsibility of the larynx. SNOMEDCT:253737007|http://identifiers.org/omim/150280|NCIT:C98971|MEDDRA:10060786|UMLS:C0345160|ORPHA:2373|MESH:D055092 http://purl.obolibrary.org/obo/MONDO_0007878 congenital laryngeal stridor|laryngomalacia congenital|laryngomalacia ordo_malformation_syndrome MONDO:0005215 vulvar carcinoma biolink:Disease mondo SCTID:447882007|Orphanet:494418|NCIT:C4866|UMLS:C0677055|EFO:0002921|DOID:1294 A carcinoma that arises from epithelial cells of the mammalian vulva DOID:1294|UMLS:C0677055|NCIT:C4866|SNOMEDCT:447882007|ORPHA:494418 http://purl.obolibrary.org/obo/MONDO_0005215 vulvar cancer, NOS|carcinoma of vulva|vulva cancer|vulva carcinoma|vulvar cancer|vulvar carcinoma|carcinoma of the vulva|cancer of the vulva|cancer of vulva|carcinoma of mammalian vulva|mammalian vulva carcinoma MONDO:0032834 retinitis pigmentosa 86 biolink:Disease mondo OMIM:618613 http://identifiers.org/omim/618613 http://purl.obolibrary.org/obo/MONDO_0032834 RETINITIS PIGMENTOSA 86; RP86 MONDO:0007879 larynx atresia biolink:Disease mondo OMIM:150300|GARD:0003194|MESH:C563637|ICD10:Q31.8|NCIT:C98972|SCTID:64981002|Orphanet:1202|ICD9:748.3|GARD:0003192|UMLS:C0265756 A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. UMLS:C0265756|http://identifiers.org/omim/150300|MESH:C563637|NCIT:C98972|SNOMEDCT:64981002|ORPHA:1202 http://purl.obolibrary.org/obo/MONDO_0007879 congenital atresia of larynx|congenital atresia of the larynx|congenital partial atresia of the larynx|laryngeal atresia|larynx, congenital partial atresia OF ordo_malformation_syndrome MONDO:0005214 vulva sarcoma biolink:Disease mondo NCIT:C40317|SCTID:254897006|UMLS:C0238525|EFO:0002920|DOID:2096 A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma. DOID:2096|SNOMEDCT:254897006|UMLS:C0238525|NCIT:C40317 http://purl.obolibrary.org/obo/MONDO_0005214 sarcoma of vulva|sarcoma of mammalian vulva|mammalian vulva sarcoma|vulvar sarcoma MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type biolink:Disease mondo OMIM:618618 http://identifiers.org/omim/618618 http://purl.obolibrary.org/obo/MONDO_0032835 SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN MONDO:0005217 familial cardiomyopathy biolink:Disease mondo ICD9:425.4|UMLS:C0264789|SCTID:35728003|EFO:0002945 An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. UMLS:C0264789|SNOMEDCT:35728003 http://purl.obolibrary.org/obo/MONDO_0005217 hereditary cardiomyopathy MONDO:0007876 laryngeal abductor paralysis biolink:Disease mondo OMIM:150260|ICD10:J38.0|Orphanet:2808|GARD:0005509|UMLS:CN202762|ICD9:748.3|SCTID:232442001 SNOMEDCT:232442001|http://identifiers.org/omim/150260|UMLS:CN202762|ORPHA:2808|UMLS:C0396059 http://purl.obolibrary.org/obo/MONDO_0007876 Labd|vocal cord dysfunction, familial|laryngeal abductor paralysis|vocal cord dysfunction familial|familial vocal cord dysfunction|Gerhardt syndrome ordo_malformation_syndrome MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies biolink:Disease mondo OMIM:618608 http://identifiers.org/omim/618608 http://purl.obolibrary.org/obo/MONDO_0032832 Chromosome 12Q15 Deletion Syndrome|INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS MONDO:0007877 LAP biolink:Disease mondo MESH:C562861|OMIM:150270 http://identifiers.org/omim/150270|MESH:C562861 http://purl.obolibrary.org/obo/MONDO_0007877 laryngeal adductor paralysis|LAP|vocal cord dysfunction, adductor type|laryngeal adductor paralysis; LAP MONDO:0032833 lower urinary tract obstruction, congenital biolink:Disease mondo OMIM:618612 http://identifiers.org/omim/618612 http://purl.obolibrary.org/obo/MONDO_0032833 LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO MONDO:0005216 hypopharyngeal carcinoma biolink:Disease mondo NCIT:C9465|EFO:0002938 Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx. NCIT:C9465 http://purl.obolibrary.org/obo/MONDO_0005216 hypopharynx carcinoma|hypopharyngeal cancer|hypopharyngeal carcinoma|carcinoma of the hypopharynx|hypopharyngeal throat cancer|cancer of the hypopharynx|cancer of hypopharynx|carcinoma of hypopharynx MONDO:0005211 ovarian serous adenocarcinoma biolink:Disease mondo NCIT:C7550|EFO:0002917|DOID:0050933|DOID:5744|ONCOTREE:SOC An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. NCIT:C7550|DOID:0050933|DOID:5744 http://purl.obolibrary.org/obo/MONDO_0005211 serous carcinoma of the ovary|ovarian serous adenocarcinoma|ovarian serous carcinoma|serous ovarian cancer|serous carcinoma of ovary|serous adenocarcinoma of the ovary|serous adenocarcinoma of ovary|malignant ovarian serous tumor|ovary serous adenocarcinoma MONDO:0007874 trichorhinophalangeal syndrome type II biolink:Disease mondo ICD9:759.89|GARD:0007801|Orphanet:502|NCIT:C75118|MESH:D015826|DOID:4998|MedDRA:10050638|SCTID:41069008|ICD10:Q87.8|OMIM:150230|UMLS:C0023003 Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. MEDDRA:10050638|UMLS:C2931237|http://identifiers.org/omim/150230|MESH:D015826|SNOMEDCT:41069008|NCIT:C75118|ORPHA:502|UMLS:C0023003|MESH:C536555|DOID:4998 http://purl.obolibrary.org/obo/MONDO_0007874 TRPS 2|chromosome 8Q24.1 deletion syndrome|trichorhinophalangeal syndrome, type II|Giedion-Langer syndrome|Langer Giedion syndrome|trichorhinophalangeal syndrome type 2|trichorhinophalangeal syndrome, type 2|Langer-Giedion syndrome|trichorhinophalangeal dysplasia type II|monosomy 8q24.1|trichorhinophalangeal syndrome, type II; TRPS2|TRPS2|deletion 8q24.1 ordo_malformation_syndrome MONDO:0020830 diaphragmitis biolink:Disease mondo UMLS:C0011985|SCTID:73160007|EFO:0000937 UMLS:C0011985|SNOMEDCT:73160007 http://purl.obolibrary.org/obo/MONDO_0020830 diaphragmatitis|diaphragmitis MONDO:0005210 uterine corpus sarcoma biolink:Disease mondo ONCOTREE:USARC|Orphanet:213620|NCIT:C6339|UMLS:C0338113|EFO:0002914|SCTID:254877001|DOID:5165|GARD:0009383|ICD10:C54.2|MedDRA:10039497 A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma. NCIT:C6339|MEDDRA:10039497|SNOMEDCT:254877001|DOID:5165|ORPHA:213620|UMLS:C0338113 http://purl.obolibrary.org/obo/MONDO_0005210 body of uterus sarcoma|sarcoma of uterus|sarcoma of the uterus|uterine sarcoma/mesenchymal|sarcoma of body of uterus|uterine body sarcoma|sarcoma of uterine corpus|sarcoma of the body of uterus|sarcoma of the uterine corpus|uterus sarcoma|sarcoma of uterine body|sarcoma of corpus uteri|sarcoma of the uterine body|corpus uteri sarcoma|sarcoma of the corpus uteri|uterine sarcoma ordo_group_of_disorders|gard_rare MONDO:0007875 Larsen syndrome biolink:Disease mondo ICD10:Q74.8|ICD9:759.89|GARD:0006860|DOID:14764|Orphanet:503|UMLS:C0175778|MESH:C580241|SCTID:63387002|OMIM:150250 Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. MESH:C580241|http://identifiers.org/omim/150250|UMLS:C2931648|SNOMEDCT:63387002|UMLS:C0175778|ORPHA:503|DOID:14764 http://purl.obolibrary.org/obo/MONDO_0007875 Larsen syndrome; LRS|LRS|dominant Larsen syndrome|Larsen syndrome|autosomal dominant Larsen syndrome ordo_malformation_syndrome|gard_rare HGNC:10914 SLC12A6 biolink:OntologyClass mondo http://identifiers.org/hgnc/10914 MONDO:0007872 LADD syndrome biolink:Disease mondo DOID:0050331|SCTID:23817003|ICD9:759.89|MESH:C538132|Orphanet:2363|OMIM:149730|ICD10:Q87.8|GARD:0006848|UMLS:C0265269 Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations. SNOMEDCT:23817003|MESH:C538132|ORPHA:2363|UMLS:C0265269|DOID:0050331|http://identifiers.org/omim/149730 http://purl.obolibrary.org/obo/MONDO_0007872 lacrimoauriculodentodigital syndrome|Lacrimoauriculoradiodental syndrome|LACRIMOAURICULODENTODIGITAL syndrome; LADD|lard syndrome|Lacrimoauriculodento-digital syndrome|Lacrimo-auriculo-dento-digital syndrome|lacrimoauriculodentodigital syndrome|levy Hollister syndrome|levy-Hollister syndrome|LADD syndrome|LADD ordo_malformation_syndrome MONDO:0005213 uterine carcinoma biolink:Disease mondo EFO:0002919|SCTID:446022000|UMLS:C2960452 A carcinoma involving a uterus. UMLS:C2960452|SNOMEDCT:446022000 http://purl.obolibrary.org/obo/MONDO_0005213 carcinoma of uterus|uterus carcinoma MONDO:0007873 lactic acidosis, chronic adult form biolink:Disease mondo UMLS:C1835591|MESH:C563640|OMIM:150170 http://identifiers.org/omim/150170|MESH:C563640|UMLS:C1835591 http://purl.obolibrary.org/obo/MONDO_0007873 lactic acidosis, chronic adult form MONDO:0005212 rhabdomyosarcoma (disease) biolink:Disease mondo EFO:0002918|MESH:D012208|ICD10:C49.9|MedDRA:10039022|NCIT:C3359|UMLS:C0035412|Orphanet:780|ICD9:171.9|HP:0002859|DOID:3247|ONCOTREE:RMS|SCTID:302847003|ICDO:8900/3 A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. UMLS:C0035412|MEDDRA:10039022|NCIT:C3359|SNOMEDCT:302847003|MESH:D012208|DOID:3247|ORPHA:780 http://purl.obolibrary.org/obo/MONDO_0005212 rhabdomyosarcoma, malignant|rhabdomyosarcoma|rhabdomyosarcoma (disease)|rhabdomyosarcoma, NOS ordo_disease HGNC:10912 SLC12A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10912 MONDO:0007870 labia minora, incomplete adhesion of biolink:Disease mondo OMIM:149600 http://identifiers.org/omim/149600 http://purl.obolibrary.org/obo/MONDO_0007870 labia minora, incomplete adhesion of MONDO:0007871 familial congenital nasolacrimal duct obstruction biolink:Disease mondo OMIM:149700|MESH:C566703|Orphanet:451612|ICD10:Q10.5 http://identifiers.org/omim/149700|MESH:C566703|ORPHA:451612 http://purl.obolibrary.org/obo/MONDO_0007871 lacrimal puncta, absence of|nasolacrimal duct obstruction|lacrimal duct defect; LCDD|LCDD|lacrimal duct defect ordo_morphological_anomaly UBERON:0016479 capsule of liver biolink:AnatomicalEntity mondo A collagenous capsule covering the external surface of the liver. http://purl.obolibrary.org/obo/UBERON_0016479 hepatic capsule|glisson's capsule|capsula fibrosa perivascularis|fibrous capsule of liver|tunica fibrosa hepatis|tunica fibrosa (hepar)|liver capsule|fibrous capsule of Glisson UBERON:0016478 liver stroma biolink:AnatomicalEntity mondo A stroma that is part of a liver. http://purl.obolibrary.org/obo/UBERON_0016478 stroma of liver|hepatic stroma MONDO:0044816 familial idiopathic torsion dystonia biolink:Disease mondo SCTID:230318005|NCIT:C35437 An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome. NCIT:C35437|SNOMEDCT:230318005 http://purl.obolibrary.org/obo/MONDO_0044816 hereditary idiopathic torsion dystonia|genetic torsion dystonia|familial Idiopathic dystonia|idiopathic familial dystonia MONDO:0019849 isolated micropenis biolink:Disease mondo ICD10:Q55.6|Orphanet:95707 ORPHA:95707 http://purl.obolibrary.org/obo/MONDO_0019849 ordo_morphological_anomaly UBERON:0004495 skeletal muscle tissue of diaphragm biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of a diaphragm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004495 HP:0004566 Pear-shaped vertebrae biolink:PhenotypicFeature mondo UMLS:C1866731 Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. http://purl.obolibrary.org/obo/HP_0004566 Pear-shaped vertebral bodies MONDO:0019848 posterior hypospadias biolink:Disease mondo ICD10:Q54.3|ICD10:Q54.2|Orphanet:95706 Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed. ORPHA:95706 http://purl.obolibrary.org/obo/MONDO_0019848 perineal, scrotal or penoscrotal hypospadias ordo_morphological_anomaly UBERON:0004493 cardiac muscle tissue of myocardium biolink:AnatomicalEntity mondo A portion of cardiac muscle tissue that is part of a myocardium [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004493 MONDO:0044817 acquired idiopathic torsion dystonia biolink:Disease mondo NCIT:C35438|SCTID:230321007 An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual. NCIT:C35438|SNOMEDCT:230321007 http://purl.obolibrary.org/obo/MONDO_0044817 acquired idiopathic torsion dystonia|non-Familial Idiopathic dystonia|idiopathic non-familial dystonia UBERON:0004491 cardiac muscle tissue of interatrial septum biolink:AnatomicalEntity mondo A portion of cardiac muscle tissue that is part of a interatrial septum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004491 interatrial septum muscle|interatrial septum myocardium|interatrial septum heart muscle|interatrial septum cardiac muscle tissue MONDO:0019845 iatrogenic or traumatic pituitary deficiency biolink:Disease mondo ICD10:E23.1|Orphanet:95619 ORPHA:95619 http://purl.obolibrary.org/obo/MONDO_0019845 ordo_disease UBERON:0004492 cardiac muscle tissue of cardiac septum biolink:AnatomicalEntity mondo A portion of cardiac muscle tissue that is part of a cardiac septum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004492 cardiac septum heart muscle|cardiac septum cardiac muscle tissue|cardiac septum muscle|cardiac septum myocardium MONDO:0019844 pituitary hormone deficiency secondary to storage disease biolink:Disease mondo UMLS:CN206788|Orphanet:95618 UMLS:CN206788|ORPHA:95618 http://purl.obolibrary.org/obo/MONDO_0019844 ordo_group_of_disorders MONDO:0044811 idiopathic torsion dystonia biolink:Disease mondo SCTID:22451001|NCIT:C34564|ICD9:333.6 Torsion dystonia for which no underlying cause has been identified. SNOMEDCT:22451001|NCIT:C34564 http://purl.obolibrary.org/obo/MONDO_0044811 Schwalbe disease|idiopathic torsion dystonia|dystonia deformans progressiva|Ziehen-oppenheim disease|primary torsion dystonia|Idiopathic torsion dystonia|dystonia musculorum deformans MONDO:0019847 obsolete congenital adrenal hypoplasia of maternal cause biolink:Disease mondo ICD10:E27.1|Orphanet:95701 ORPHA:95701 http://purl.obolibrary.org/obo/MONDO_0019847 ordo_disease MONDO:0019846 acquired central diabetes insipidus biolink:Disease mondo ICD10:E23.2|Orphanet:95626 Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production. ORPHA:95626 http://purl.obolibrary.org/obo/MONDO_0019846 acquired CDI|acquired central diabetes insipidus|acquired neurogenic diabetes insipidus ordo_clinical_subtype UBERON:0004490 cardiac muscle tissue of atrium biolink:AnatomicalEntity mondo A portion of cardiac muscle tissue that is part of an atrium [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004490 atrial heart muscle|atrial myocardium|atrial cardiac muscle tissue|cardiac atrium muscle MONDO:0019841 pituitary hormone defiency from vascular origin biolink:Disease mondo ICD10:E23.0|Orphanet:95611 ORPHA:95611 http://purl.obolibrary.org/obo/MONDO_0019841 ordo_group_of_disorders MONDO:0032841 Usher syndrome, type 1M biolink:Disease mondo OMIM:618632 http://identifiers.org/omim/618632 http://purl.obolibrary.org/obo/MONDO_0032841 USHER SYNDROME, TYPE 1M; USH1M MONDO:0019840 acropectororenal dysplasia biolink:Disease mondo Orphanet:956|ICD10:Q87.8|SCTID:720413004|GARD:0000511 Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. ORPHA:956|SNOMEDCT:720413004 http://purl.obolibrary.org/obo/MONDO_0019840 acro-pectoro-renal field defect|brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys ordo_malformation_syndrome|gard_rare MONDO:0032842 siddiqi syndrome biolink:Disease mondo OMIM:618635 http://identifiers.org/omim/618635 http://purl.obolibrary.org/obo/MONDO_0032842 SIDDIQI SYNDROME; SIDDIS|Deafness, Dystonia, Developmental Delay, and Poor Growth MONDO:0019843 pituitary hormone deficiency secondary to a granulomatous disease biolink:Disease mondo UMLS:CN206787|Orphanet:95617 UMLS:CN206787|ORPHA:95617 http://purl.obolibrary.org/obo/MONDO_0019843 ordo_group_of_disorders MONDO:0032840 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0032840 MONDO:0019842 obsolete pituitary apoplexy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019842 MF:0000017 consciousness biolink:OntologyClass mondo Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. http://purl.obolibrary.org/obo/MF_0000017 MONDO:0007849 keratitis fugax hereditaria biolink:Disease mondo UMLS:C1835697|MESH:C563650|OMIM:148200 http://identifiers.org/omim/148200|MESH:C563650|UMLS:C1835697 http://purl.obolibrary.org/obo/MONDO_0007849 keratitis fugax hereditaria|KERATOENDOTHELIITIS fugax hereditaria; KEFH|Keratoendotheliitis fugax hereditaria|KEFH MONDO:0056816 vulvar neuroendocrine carcinoma biolink:Disease mondo UMLS:C4288002|NCIT:C128243 A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas. NCIT:C128243|UMLS:C4288002 http://purl.obolibrary.org/obo/MONDO_0056816 vulvar Neuroendocrine cancer|mammalian vulva neuroendocrine carcinoma|neuroendocrine carcinoma of mammalian vulva|vulvar Neuroendocrine carcinoma|vulvar high grade Neuroendocrine neoplasm|vulvar high grade Neuroendocrine carcinoma MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies biolink:Disease mondo OMIM:618651 http://identifiers.org/omim/618651 http://purl.obolibrary.org/obo/MONDO_0032849 NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES; NEDSOSB MONDO:0056817 rectal adenosquamous carcinoma biolink:Disease mondo NCIT:C43594|UMLS:C1709865 An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. NCIT:C43594|UMLS:C1709865 http://purl.obolibrary.org/obo/MONDO_0056817 rectal adenosquamous carcinoma|rectal adenosquamous cancer MONDO:0056818 skin adenosquamous carcinoma biolink:Disease mondo UMLS:C1710103|NCIT:C54250 An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components. NCIT:C54250|UMLS:C1710103 http://purl.obolibrary.org/obo/MONDO_0056818 skin adenosquamous carcinoma|skin adenosquamous cancer MONDO:0007847 keloid formation biolink:Disease mondo OMIM:148100 http://identifiers.org/omim/148100 http://purl.obolibrary.org/obo/MONDO_0007847 keloid formation MONDO:0007848 autosomal dominant keratitis biolink:Disease mondo Orphanet:2334|UMLS:C4017065|UMLS:C1835698|MESH:C537022|OMIM:148190|UMLS:CN068649|ICD10:H16.8|SCTID:715339004|GARD:0003089 Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. ORPHA:2334|MESH:C537022|http://identifiers.org/omim/148190|UMLS:CN068649|SNOMEDCT:715339004|UMLS:C1835698|UMLS:C4017065 http://purl.obolibrary.org/obo/MONDO_0007848 dominantly inherited keratitis|keratitis, hereditary|keratitis, autosomal dominant|hereditary keratitis ordo_disease MONDO:0056819 nasal cavity and paranasal sinus carcinoma biolink:Disease mondo UMLS:C1710095|GARD:0007650|NCIT:C54293 A carcinoma arising from the nasal cavity or paranasal sinuses. NCIT:C54293|UMLS:C1710095 http://purl.obolibrary.org/obo/MONDO_0056819 sinonasal carcinoma|nasal cavity and paranasal sinus carcinoma|paranasal sinus and nasal cavity cancer|nasal cavity and paranasal sinus cancer MONDO:0032848 immunodeficiency 65, susceptibility to viral infections biolink:Disease mondo OMIM:618648 http://identifiers.org/omim/618648 http://purl.obolibrary.org/obo/MONDO_0032848 IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65 MONDO:0007845 Kaposi sarcoma, susceptibility to biolink:Disease mondo OMIM:148000 http://identifiers.org/omim/148000 http://purl.obolibrary.org/obo/MONDO_0007845 multicentric Castleman disease, susceptibility to|Kaposi sarcoma, susceptibility to|susceptibility to Kaposi sarcoma|multiple idiopathic pigmented hemangiosarcoma, susceptibility to predisposition MF:0000031 cognitive representation biolink:OntologyClass mondo A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://purl.obolibrary.org/obo/MF_0000031 MONDO:0032845 spermatogenic failure 39 biolink:Disease mondo OMIM:618643 http://identifiers.org/omim/618643 http://purl.obolibrary.org/obo/MONDO_0032845 SPERMATOGENIC FAILURE 39; SPGF39 MONDO:0007846 KBG syndrome biolink:Disease mondo OMIM:148050|DOID:14780|UMLS:C0220687|ICD10:Q87.8|Orphanet:2332|ICD9:759.89|GARD:0000082|MESH:C537015|SCTID:711156009 KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. ORPHA:2332|MESH:C537015|http://identifiers.org/omim/148050|DOID:14780|SNOMEDCT:711156009|UMLS:C0220687 http://purl.obolibrary.org/obo/MONDO_0007846 KBGS|KBG syndrome|short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies|short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies|short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies|KBG syndrome; KBGS|macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies ordo_malformation_syndrome|gard_rare MONDO:0056813 hormone-resistant breast carcinoma biolink:Disease mondo NCIT:C114932 Breast carcinoma that does not respond to hormone therapy. NCIT:C114932 http://purl.obolibrary.org/obo/MONDO_0056813 hormone-refractory breast cancer|hormone-resistant breast carcinoma|hormone-resistant breast cancer MF:0000032 bodily disposition biolink:OntologyClass mondo A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. http://purl.obolibrary.org/obo/MF_0000032 MONDO:0032846 osteogenesis imperfecta, type 20 biolink:Disease mondo OMIM:618644 http://identifiers.org/omim/618644 http://purl.obolibrary.org/obo/MONDO_0032846 OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 MONDO:0056814 hormone-resistant prostate carcinoma biolink:Disease mondo NCIT:C114933 Prostate carcinoma that does not respond to hormone therapy. NCIT:C114933 http://purl.obolibrary.org/obo/MONDO_0056814 hormone-resistant prostate cancer|hormone-resistant prostate carcinoma MONDO:0007843 Kabuki syndrome 1 biolink:Disease mondo UMLS:CN030661|OMIM:147920 UMLS:CN030661|http://identifiers.org/omim/147920 http://purl.obolibrary.org/obo/MONDO_0007843 Kabuki make-Up syndrome|KABUKI syndrome 1; KABUK1|Niikawa-Kuroki syndrome|Kabuki syndrome 1|KABUK1|Kabuki syndrome|Kabuki syndrome type 1 MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 biolink:Disease mondo OMIM:618637 http://identifiers.org/omim/618637 http://purl.obolibrary.org/obo/MONDO_0032843 OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1 MF:0000033 mental disposition biolink:OntologyClass mondo A mental disposition is a bodily disposition that is realized in a mental process. http://purl.obolibrary.org/obo/MF_0000033 MONDO:0056815 liver adenosquamous carcinoma biolink:Disease mondo NCIT:C118630|UMLS:C3898586 A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells. NCIT:C118630|UMLS:C3898586 http://purl.obolibrary.org/obo/MONDO_0056815 liver adenosquamous carcinoma|liver adenosquamous cancer MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia biolink:Disease mondo OMIM:147950|GARD:0003070|DOID:0090083|UMLS:C1563720|ICD10:E23.0 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene. DOID:0090083|http://identifiers.org/omim/147950|UMLS:C1563720 http://purl.obolibrary.org/obo/MONDO_0007844 Kallmann syndrome 2|hypogonadotropic hypogonadism 2 with or without anosmia; HH2|HH2|FGFR1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 2 with or without anosmia|KAL2|hypogonadotropic hypogonadism caused by mutation in FGFR1 MONDO:0032844 infantile liver failure syndrome 3 biolink:Disease mondo OMIM:618641 http://identifiers.org/omim/618641 http://purl.obolibrary.org/obo/MONDO_0032844 INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 MONDO:0007841 coxopodopatellar syndrome biolink:Disease mondo GARD:0003030|MESH:C535540|ICD10:Q74.1|SCTID:720752007|Orphanet:1509|OMIM:147891|UMLS:C1840061 Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. ORPHA:1509|UMLS:C1868581|SNOMEDCT:720752007|MESH:C535540|UMLS:C1840061|http://identifiers.org/omim/147891 http://purl.obolibrary.org/obo/MONDO_0007841 ischiocoxopodopatellar syndrome; ICPPS|small patella syndrome; SPS|patella aplasia, coxa vara, tarsal synostosis|coxopodopatellar syndrome|congenital coxa vara, patella aplasia and tarsal synostosis|ischiopatellar dysplasia|SPS|small patella syndrome|Coxo-podo-patellar syndrome|ischiocoxopodopatellar syndrome|Scott-Taor syndrome|ICPPS ordo_disease ENVO:00003030 silage biolink:OntologyClass mondo A fermented, high-moisture forage that can be fed to ruminants. http://purl.obolibrary.org/obo/ENVO_00003030 MONDO:0007842 Ehlers-Danlos syndrome type 11 biolink:Disease mondo SCTID:71322004|MESH:C535884|OMIM:147900|Orphanet:2295|UMLS:C0268349|GARD:0003054|ICD10:Q79.6 Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance. MESH:C535884|http://identifiers.org/omim/147900|SNOMEDCT:71322004|UMLS:C0268349|ORPHA:2295 http://purl.obolibrary.org/obo/MONDO_0007842 Ehlers-Danlos syndrome, type Xi|EDS XI|EDS Xi, formerly|EDS Xi|familial joint instability syndrome|EDS11|EDS 11 (formerly)|Joint instability syndrome|EDS11, formerly|familial joint laxity|articular hypermobility syndrome|familial Joint instability syndrome|JOINT laxity, familial|Ehlers-Danlos syndrome, type Xi, formerly|Ehlers-Danlos syndrome, type 11 (formerly) ordo_disease MONDO:0007840 internal carotid artery, spontaneous dissection of biolink:Disease mondo UMLS:C1840073|OMIM:147820|MESH:C564125 MESH:C564125|UMLS:C1840073|http://identifiers.org/omim/147820 http://purl.obolibrary.org/obo/MONDO_0007840 internal carotid artery, spontaneous dissection of MF:0000030 representation biolink:OntologyClass mondo A dependent continuant which is about a portion of reality. http://purl.obolibrary.org/obo/MF_0000030 MONDO:0019838 adenohypophysitis biolink:Disease mondo Orphanet:95512|ICD10:E23.6 An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period. ORPHA:95512 http://purl.obolibrary.org/obo/MONDO_0019838 lymphocytic adenohypophysitis|adenohypophysis inflammation|inflammation of adenohypophysis|anterior pituitary hypophysitis ordo_disease MONDO:0020815 dentigerous cyst biolink:Disease mondo UMLS:C0011428|SCTID:9245008|MESH:D003803 Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation. SNOMEDCT:9245008|UMLS:C0011428|MESH:D003803 http://purl.obolibrary.org/obo/MONDO_0020815 dentigerous odontogenic cyst|Dentigerous odontogenic cyst|dentigerous cyst|Cysts, Dentigerous|Dentigerous Cysts|Dentigerous cyst|dentigerous cyst of jaw|Dentigerous cyst of jaw|follicular cyst of jaw|Dentigerous Cyst|Cyst, Dentigerous MONDO:0019837 atrial appendage anomaly biolink:Disease mondo ICD10:Q20.8|Orphanet:95510 ORPHA:95510 http://purl.obolibrary.org/obo/MONDO_0019837 atrial auricle anomaly ordo_group_of_disorders UBERON:0004482 musculature of lower limb biolink:AnatomicalEntity mondo Any collection of muscles that is part of a hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004482 musculature of free lower limb|set of muscles of free lower limb|muscle group of free lower limb|free lower limb musculature MONDO:0019839 panhypophysitis biolink:Disease mondo Orphanet:95513|ICD10:E23.6 ORPHA:95513 http://purl.obolibrary.org/obo/MONDO_0019839 Infundibulo-panhypophysitis ordo_disease MONDO:0020812 exposure, dental pulp biolink:Disease mondo UMLS:C0011406|MESH:D003789|EFO:1001782 The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment. UMLS:C0011406|MESH:D003789 http://purl.obolibrary.org/obo/MONDO_0020812 Exposure, Dental Pulp|Exposure of tooth pulp|Dental Pulp Exposure|Pulp Exposure, Dental|PULP EXPOSURE DENT|EXPOSURE DENT PULP|DENT PULP EXPOSURE UBERON:0004480 musculature of limb biolink:AnatomicalEntity mondo Any collection of muscles that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004480 limb musculature|set of muscles of limb|limb muscle system|muscle group of limb MONDO:0019834 pituitary hormone deficiency from meningeal origin biolink:Disease mondo Orphanet:95505 ORPHA:95505 http://purl.obolibrary.org/obo/MONDO_0019834 ordo_group_of_disorders MONDO:0019833 pituitary hormone deficiency from tumoral origin biolink:Disease mondo UMLS:CN206780|Orphanet:95503 UMLS:CN206780|ORPHA:95503 http://purl.obolibrary.org/obo/MONDO_0019833 ordo_group_of_disorders UBERON:0004481 musculature of upper limb biolink:AnatomicalEntity mondo Any collection of muscles that is part of a forelimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004481 free upper limb musculature|musculature of free upper limb|set of muscles of free upper limb|muscle group of free upper limb MONDO:0020811 mitochondrial complex III deficiency, nuclear type biolink:Disease mondo OMIMPS:124000 http://purl.obolibrary.org/obo/MONDO_0020811 MONDO:0020810 congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome biolink:Disease mondo Orphanet:508512 ORPHA:508512 http://purl.obolibrary.org/obo/MONDO_0020810 ordo_disease MONDO:0019836 congenital anomaly of hepatic vein biolink:Disease mondo Orphanet:95507|ICD10:Q26.8 UMLS:C3163825|ORPHA:95507 http://purl.obolibrary.org/obo/MONDO_0019836 ordo_morphological_anomaly MONDO:0019835 primary hypophysitis biolink:Disease mondo MESH:D000069281|ICD9:253.8|SCTID:237706000|ICD10:E23.6|Orphanet:95506|ICD9:279.49|NCIT:C132055 Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease). NCIT:C132055|SNOMEDCT:237706000|ORPHA:95506|MESH:D000069281 http://purl.obolibrary.org/obo/MONDO_0019835 lymphocytic hypophysitis|autoimmune hypophysitis ordo_group_of_disorders MONDO:0019830 congenital anomaly of the inferior vena cava biolink:Disease mondo ICD9:747.49|Orphanet:95499|SCTID:81577001|ICD10:Q26.9 UMLS:C0265932|ORPHA:95499|SNOMEDCT:81577001 http://purl.obolibrary.org/obo/MONDO_0019830 congenital anomaly of the IVC|congenital anomaly of the inferior caval vein ordo_group_of_disorders MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities biolink:Disease mondo OMIM:618654 http://identifiers.org/omim/618654 http://purl.obolibrary.org/obo/MONDO_0032852 MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ|Multiple Structured Core Disease MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant biolink:Disease mondo OMIM:618655 http://identifiers.org/omim/618655 http://purl.obolibrary.org/obo/MONDO_0032853 MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 MONDO:0056820 nasal cavity and paranasal sinus neoplasm biolink:Disease mondo NCIT:C7336|UMLS:C1334925 A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. UMLS:C1334925|NCIT:C7336 http://purl.obolibrary.org/obo/MONDO_0056820 nasal cavity and paranasal sinus neoplasm MONDO:0056821 bronchiolitis obliterans organizing pneumonia biolink:Disease mondo SCTID:68409003|GARD:0005961 Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications. SNOMEDCT:68409003 http://purl.obolibrary.org/obo/MONDO_0056821 BOOP|organizing pneumonia|constrictive bronchiolitis|organized pneumonia gard_rare MONDO:0019832 acquired pituitary hormone deficiency biolink:Disease mondo ICD10:E23.0|Orphanet:95502 An instance of hypopituitarism that is acquired during the lifetime of the individual. ORPHA:95502 http://purl.obolibrary.org/obo/MONDO_0019832 acquired hypopituitarism ordo_group_of_disorders MONDO:0032850 neurooculocardiogenitourinary syndrome biolink:Disease mondo OMIM:618652 http://identifiers.org/omim/618652 http://purl.obolibrary.org/obo/MONDO_0032850 NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS MONDO:0056822 amyotonia congenita biolink:Disease mondo OMIM:205000 http://identifiers.org/omim/205000 http://purl.obolibrary.org/obo/MONDO_0056822 amyotonia congenita|Oppenheim disease MONDO:0019831 congenital anomaly of the coronary sinus biolink:Disease mondo Orphanet:95500|ICD10:Q21.1 ORPHA:95500 http://purl.obolibrary.org/obo/MONDO_0019831 ordo_group_of_disorders NCBITaxon:30005 Anoplura organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_30005 sucking lice MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies biolink:Disease mondo OMIM:618653 http://identifiers.org/omim/618653 http://purl.obolibrary.org/obo/MONDO_0032851 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF UBERON:0004488 musculature of pes biolink:AnatomicalEntity mondo Any collection of muscles that is part of a foot [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004488 musculature of foot|muscle group of foot|foot musculature|set of muscles of foot UBERON:0004489 musculature of manus biolink:AnatomicalEntity mondo Any collection of muscles that is part of a manus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004489 musculature of hand|muscle group of hand|hand musculature|set of muscles of hand MONDO:0020818 secondary dentine biolink:Disease mondo SCTID:59818004|UMLS:C0011434|MESH:D003809 Dentin formed by normal pulp after completion of root end formation. UMLS:C0011434|SNOMEDCT:59818004|MESH:D003809 http://purl.obolibrary.org/obo/MONDO_0020818 Reparative dentine|Secondary dentine|sclerotic dentine|Secondary Dentins|Irregular dentine|DENTIN SECOND|SECOND DENTIN|Tertiary dentine|reparative dentine|Dentins, Secondary|Irregular dentin|Secondary Dentin|Secondary dentin|secondary dentin|secondary dentine|irregular dentine|Dentin, Secondary|tertiary dentine|irregular dentin|Sclerotic dentine UBERON:0004487 musculature of forelimb zeugopod biolink:AnatomicalEntity mondo Any collection of muscles that is part of a lower arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004487 muscle group of forearm|musculature of forearm|set of muscles of forearm MONDO:0056805 benign peripheral nerve granular cell tumor biolink:Disease mondo NCIT:C5502|UMLS:C1332530 A benign granular cell tumor that involves the nerve. NCIT:C5502|UMLS:C1332530 http://purl.obolibrary.org/obo/MONDO_0056805 benign peripheral nerve granular cell tumor|benign granular cell neoplasm of peripheral nerve|benign granular cell neoplasm of the peripheral nerve|nerve benign granular cell tumor|benign granular cell tumor of peripheral nerve|benign granular cell tumor of nerve|benign granular cell tumor of the peripheral nerve|benign peripheral nerve granular cell neoplasm MONDO:0056806 non-small cell squamous lung carcinoma biolink:Disease mondo NCIT:C133254|SCTID:723301009 A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma. SNOMEDCT:723301009|NCIT:C133254 http://purl.obolibrary.org/obo/MONDO_0056806 non-small cell squamous lung carcinoma|squamous non-small cell lung carcinoma|non-small cell squamous lung cancer MONDO:0007858 palmoplantar keratoderma, punctate type 1A biolink:Disease mondo OMIM:148600|DOID:0080214 Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene. DOID:0080214|http://identifiers.org/omim/148600 http://purl.obolibrary.org/obo/MONDO_0007858 punctate palmoplantar keratoderma type 1A|Kppp1|PPKP1A|AAGAB punctate palmoplantar keratoderma|keratosis palmoplantaris papulosa|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|palmoplantar keratoderma, punctate type IA; PPKP1A|punctate palmoplantar keratoderma caused by mutation in AAGAB|palmoplantar keratoderma, punctate type IA|palmoplantar keratoderma, punctate type 1 MONDO:0032858 developmental and epileptic encephalopathy, 81 biolink:Disease mondo OMIM:618663 http://identifiers.org/omim/618663 http://purl.obolibrary.org/obo/MONDO_0032858 DEE81|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81; EIEE81|epileptic encephalopathy, early infantile, 81 MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse biolink:Disease mondo GARD:0009172|MESH:C536162|OMIM:148700 MESH:C536162|http://identifiers.org/omim/148700 http://purl.obolibrary.org/obo/MONDO_0007859 SPPK1|palmoplantar keratoderma i, striate, focal, or diffuse|keratoderma, palmoplantar striate form 1|palmoplantar keratoderma I, striate, focal, or diffuse; PPKS1|striate palmoplantar keratoderma 1|keratosis palmoplantaris striata 1|keratoderma, palmoplantar, striate form 1|PPKS1 MONDO:0032859 spermatogenic failure 40 biolink:Disease mondo OMIM:618664 http://identifiers.org/omim/618664 http://purl.obolibrary.org/obo/MONDO_0032859 SPERMATOGENIC FAILURE 40; SPGF40 MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome biolink:Disease mondo GARD:0003102|SCTID:111030006|MESH:C536164|Orphanet:2198|OMIM:148500 Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. MESH:C536164|http://identifiers.org/omim/148500|SNOMEDCT:111030006|UMLS:C1835664|ORPHA:2198 http://purl.obolibrary.org/obo/MONDO_0007856 keratosis palmoplantaris with esophageal cancer|keratosis palmaris et plantaris with esophageal cancer|tylosis with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|howel-Evans syndrome|tylosis - oesophageal carcinoma|palmoplantar keratoderma with esophageal cancer|keratosis palmaris Et plantaris with esophageal cancer|tylosis with esophageal cancer; Toc|tylosis-oesophageal carcinoma syndrome|Bennion-Patterson syndrome|keratosis palmoplantaris-esophageal carcinoma syndrome|Howell-Evans syndrome|palmoplantar keratoderma-esophageal carcinoma syndrome|Toc ordo_disease|gard_rare MONDO:0032856 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0032856 MONDO:0056802 synovial bursa disease biolink:Disease mondo SCTID:10597006|UMLS:C0263946 A disease or disorder that involves the synovial bursa. SNOMEDCT:10597006|UMLS:C0263946 http://purl.obolibrary.org/obo/MONDO_0056802 disorder of synovial bursa|disease of synovial bursa|disorder of bursa|disease or disorder of synovial bursa|synovial bursa disease or disorder MONDO:0032857 diarrhea 11, malabsorptive, congenital biolink:Disease mondo OMIM:618662 http://identifiers.org/omim/618662 http://purl.obolibrary.org/obo/MONDO_0032857 Intractable Diarrhea of Infancy Syndrome|DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11 MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome biolink:Disease mondo UMLS:C1835663|ICD10:Q82.8|MESH:C563646|Orphanet:86919|OMIM:148520 Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. ORPHA:86919|http://identifiers.org/omim/148520|MESH:C563646|UMLS:C1835663 http://purl.obolibrary.org/obo/MONDO_0007857 palmoplantar keratoderma-clinodactyly syndrome|keratosis palmaris ET plantaris with clinodactyly ordo_disease MONDO:0007854 keratolytic winter erythema biolink:Disease mondo OMIM:148370|MESH:C536155|UMLS:C0406756|SCTID:239064000|GARD:0008275|Orphanet:50943|ICD9:695.89 Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission. MESH:C536155|http://identifiers.org/omim/148370|SNOMEDCT:239064000|ORPHA:50943|UMLS:C0406756 http://purl.obolibrary.org/obo/MONDO_0007854 Oudtshoorn skin disease|keratolytic winter erythema|Oudtshoorn disease|KWE|Erythrokeratolysis hiemalis ichthyosis|Oudtshoorn skin|Erythrokeratolysis hiemalis|keratolytic WINTER erythema; KWE ordo_disease|gard_rare MONDO:0056803 sulfur metabolism disease biolink:Disease mondo SCTID:123809005|UMLS:C1263724 A disease that has its basis in the disruption of sulfur compound metabolic process. SNOMEDCT:123809005|UMLS:C1263724 http://purl.obolibrary.org/obo/MONDO_0056803 disorder of sulfur metabolism|disorder of sulfur metabolic process|disorder of sulphur metabolism|sulfur compound metabolic process disease|disorder of sulfur compound metabolic process MONDO:0032854 zimmermann-laband syndrome 3 biolink:Disease mondo OMIM:618658 http://identifiers.org/omim/618658 http://purl.obolibrary.org/obo/MONDO_0032854 ZIMMERMANN-LABAND SYNDROME 3; ZLS3 MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies biolink:Disease mondo OMIM:618659 http://identifiers.org/omim/618659 http://purl.obolibrary.org/obo/MONDO_0032855 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA MONDO:0007855 keratosis, familial actinic biolink:Disease mondo UMLS:C2675099|OMIM:148390|MESH:C567190 http://identifiers.org/omim/148390|MESH:C567190|UMLS:C2675099 http://purl.obolibrary.org/obo/MONDO_0007855 keratosis, familial actinic MONDO:0056804 benign neoplasm of peripheral nervous system biolink:Disease mondo DOID:0080320 DOID:0080320 http://purl.obolibrary.org/obo/MONDO_0056804 MONDO:0007852 palmoplantar keratoderma-deafness syndrome biolink:Disease mondo GARD:0003094|Orphanet:2202|MESH:C536152|ICD10:Q82.8|UMLS:C1835672|OMIM:148350 Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. http://identifiers.org/omim/148350|UMLS:C1835672|ORPHA:2202|MESH:C536152 http://purl.obolibrary.org/obo/MONDO_0007852 diffuse palmoplantar keratoderma with deafness (subtype)|palmoplantar hyperkeratosis-hearing loss syndrome|focal palmoplantar keratoderma with sensorineural deafness (subtype)|PPK-deafness syndrome|keratoderma, palmoplantar, with deafness|palmoplantar keratoderma and sensorineural deafness|hereditary palmoplantar keratoderma with deafness (subtype)|keratoderma palmoplantar, with deafness|keratoderma palmoplantar deafness|palmoplantar hyperkeratosis-deafness syndrome|palmoplantar keratoderma-hearing loss syndrome ordo_disease UBERON:0016458 esophageal hiatus biolink:AnatomicalEntity mondo A hole in the diaphragm through which the esophagus passes http://purl.obolibrary.org/obo/UBERON_0016458 oesophageal aperture|esophageal hiatus of diaphragm|oesophageal hiatus MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome biolink:Disease mondo OMIM:148360|MESH:C536153|Orphanet:538574 http://identifiers.org/omim/148360|ORPHA:538574|MESH:C536153 http://purl.obolibrary.org/obo/MONDO_0007853 axonal neuropathy with palmoplantar keratoderma|Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy|keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy|keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy ordo_disease MONDO:0007850 autosomal dominant keratitis-ichthyosis-deafness syndrome biolink:Disease mondo DOID:0060871|OMIM:148210|ICD10:Q80.8 Autosomal dominant form of KID syndrome. DOID:0060871|http://identifiers.org/omim/148210 http://purl.obolibrary.org/obo/MONDO_0007850 Kid syndrome, autosomal dominant|keratitis-ichthyosis-deafness syndrome, autosomal dominant|KID syndrome, autosomal dominant|autosomal dominant KID syndrome MONDO:0044843 torsion dystonia biolink:Disease mondo SCTID:431034009 SNOMEDCT:431034009 http://purl.obolibrary.org/obo/MONDO_0044843 torsion dystonia MONDO:0007851 keratoconus 1 biolink:Disease mondo MESH:C563649|UMLS:C1835677|OMIM:148300 Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene. http://identifiers.org/omim/148300|MESH:C563649|UMLS:C1835677 http://purl.obolibrary.org/obo/MONDO_0007851 keratoconus type 1|keratoconus (disease) caused by mutation in VSX1|VSX1 keratoconus (disease)|KTCN1|keratoconus 1|keratoconus 1; KTCN1 MONDO:0019819 double-orifice mitral valve biolink:Disease mondo SCTID:253402005|ICD9:746.89|Orphanet:95474|ICD10:Q23.8 SNOMEDCT:253402005|UMLS:C0344770|ORPHA:95474 http://purl.obolibrary.org/obo/MONDO_0019819 ordo_clinical_subtype FOODON:00001141 wheat food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001141 UBERON:0004473 musculature of face biolink:AnatomicalEntity mondo Any collection of muscles that is part of a face. http://purl.obolibrary.org/obo/UBERON_0004473 musculi faciei|set of muscles of face|muscle group of face|set of facial muscles|entire facial musculature|facial muscles MONDO:0019827 disease associated with non-acquired combined pituitary hormone deficiency biolink:Disease mondo UMLS:CN206775|Orphanet:95495 ORPHA:95495|UMLS:CN206775 http://purl.obolibrary.org/obo/MONDO_0019827 secondary non-acquired combined pituitary hormone deficiency ordo_group_of_disorders UBERON:0004474 musculature of arm biolink:AnatomicalEntity mondo Any collection of muscles that is part of an arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004474 set of muscles of arm|arm muscle system|muscle group of arm|arm musculature FOODON:00001145 microbial food product biolink:OntologyClass mondo A food product derived from one or more microorganisms including bacteria, mold, and yeast. http://purl.obolibrary.org/obo/FOODON_00001145 MONDO:0019826 abnormal origin or aberrant course of coronary artery biolink:Disease mondo ICD10:Q24.5|Orphanet:95493 ORPHA:95493 http://purl.obolibrary.org/obo/MONDO_0019826 ordo_group_of_disorders MONDO:0019829 congenital anomaly of superior vena cava biolink:Disease mondo ICD9:747.49|Orphanet:95498|ICD10:Q26.9|SCTID:70195006 UMLS:C0265928|ORPHA:95498|SNOMEDCT:70195006 http://purl.obolibrary.org/obo/MONDO_0019829 congenital anomaly of the SVC|congenital anomaly of superior caval vein ordo_group_of_disorders UBERON:0004471 musculature of pectoral girdle biolink:AnatomicalEntity mondo A subdivision of the musculature of the body in the pectoral girdle region. Includes pectoral and shoulder muscles. http://purl.obolibrary.org/obo/UBERON_0004471 pectoral girdle muscles|set of muscles of pectoral girdle|muscle group of pectoral girdle|pectoral girdle musculature MONDO:0020803 bundle branch block biolink:Disease mondo SCTID:6374002 A defect of the bundle branches or fascicles in the electrical conduction system of the heart. SNOMEDCT:6374002 http://purl.obolibrary.org/obo/MONDO_0020803 MONDO:0019828 pituitary stalk interruption syndrome biolink:Disease mondo GARD:0013209|ICD10:E23.6|NCIT:C121150|UMLS:CN206776|Orphanet:95496|UMLS:C4053775|SCTID:715727009 Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk. NCIT:C121150|SNOMEDCT:715727009|ORPHA:95496|UMLS:CN206776|UMLS:C4053775 http://purl.obolibrary.org/obo/MONDO_0019828 hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary|PSIS|ectopic neurohypophysis ordo_morphological_anomaly|gard_rare FOODON:00001143 fungal food product biolink:OntologyClass mondo Fungal food products include edible fungi, mushrooms, and yeast. http://purl.obolibrary.org/obo/FOODON_00001143 MONDO:0019823 premature closure of the arterial duct biolink:Disease mondo Orphanet:95486|ICD10:Q25.8 Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids. ORPHA:95486 http://purl.obolibrary.org/obo/MONDO_0019823 premature closure of the patent ductus arteriosus ordo_morphological_anomaly GO:0140353 lipid export from cell biolink:OntologyClass mondo The directed movement of a lipid from a cell, into the extracellular region. http://purl.obolibrary.org/obo/GO_0140353 lipid efflux MONDO:0020801 rectal medullary carcinoma biolink:Disease mondo NCIT:C60640 A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. NCIT:C60640 http://purl.obolibrary.org/obo/MONDO_0020801 rectal medullary carcinoma MONDO:0020800 demyelinating disease of central nervous system biolink:Disease mondo ICD9:341.9|ICD9:341.8|SCTID:6118003|NCIT:C34526|GARD:0012052|UMLS:C0011302 Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system. UMLS:C0011302|SNOMEDCT:6118003|NCIT:C34526 http://purl.obolibrary.org/obo/MONDO_0020800 Demyelinating disease central nervous system (CNS)|demyelinating disorder of central nervous system|demyelinating disease central nervous system (cns)|Demyelinating disorders of the central nervous system|Demyelinating Disorder of Central Nervous System|demyelinating disease of central nervous system|demyelinating cns disease|demyelinating disorders of the central nervous system|Demyelinating disease of central nervous system|Demyelinating Disease of Central Nervous System|Demyelinating CNS disease UBERON:0004470 musculature of pelvic girdle biolink:AnatomicalEntity mondo Any collection of muscles that is part of a pelvic girdle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004470 muscle group of pelvic girdle|pelvic girdle musculature|pelvic girdle muscles|set of muscles of pelvis|set of muscles of pelvic girdle|muscle group of pelvis|pelvic girdle muscle system|muscular system of pelvis MONDO:0019822 arterial duct anomaly biolink:Disease mondo Orphanet:95485 ORPHA:95485 http://purl.obolibrary.org/obo/MONDO_0019822 patent ductus arteriosus anomalies ordo_group_of_disorders GO:0140352 export from cell biolink:OntologyClass mondo The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. http://purl.obolibrary.org/obo/GO_0140352 efflux MONDO:0019825 congenital coronary artery aneurysm biolink:Disease mondo ICD10:Q24.5|SCTID:204378009|Orphanet:95491 Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure. ORPHA:95491|SNOMEDCT:204378009 http://purl.obolibrary.org/obo/MONDO_0019825 congenital coronary aneurysm ordo_morphological_anomaly MONDO:0019824 non-acquired pituitary hormone deficiency biolink:Disease mondo Orphanet:95488|ICD10:E23.0 ORPHA:95488 http://purl.obolibrary.org/obo/MONDO_0019824 ordo_group_of_disorders MONDO:0032863 spermatogenic failure 41 biolink:Disease mondo OMIM:618670 http://identifiers.org/omim/618670 http://purl.obolibrary.org/obo/MONDO_0032863 SPERMATOGENIC FAILURE 41; SPGF41 MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies biolink:Disease mondo OMIM:618672 http://identifiers.org/omim/618672 http://purl.obolibrary.org/obo/MONDO_0032864 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF MONDO:0019821 aneurysm or dilatation of ascending aorta biolink:Disease mondo Orphanet:95484|ICD10:Q25.4 ORPHA:95484 http://purl.obolibrary.org/obo/MONDO_0019821 ordo_morphological_anomaly UBERON:0004479 musculature of trunk biolink:AnatomicalEntity mondo Any collection of muscles that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004479 muscle group of trunk|muscular system of trunk|set of muscles of trunk MONDO:0032862 hydrocephalus, congenital communicating, 1 biolink:Disease mondo OMIM:618667 http://identifiers.org/omim/618667 http://purl.obolibrary.org/obo/MONDO_0032862 HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1 MONDO:0019820 univentricular cardiopathy biolink:Disease mondo Orphanet:95483 ORPHA:95483 http://purl.obolibrary.org/obo/MONDO_0019820 ordo_group_of_disorders UBERON:0004478 musculature of larynx biolink:AnatomicalEntity mondo The collection of muscles that are part of the larynx. http://purl.obolibrary.org/obo/UBERON_0004478 muscle group of larynx|laryngeal muscles set|laryngeal muscles|set of muscles of larynx|set of laryngeal muscles MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 biolink:Disease mondo OMIM:618665 http://identifiers.org/omim/618665 http://purl.obolibrary.org/obo/MONDO_0032860 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72|Mental Retardation, Autosomal Recessive 72 UBERON:0004475 musculature of hip biolink:AnatomicalEntity mondo The collection of muscles that form attachments to the hip skeleton. http://purl.obolibrary.org/obo/UBERON_0004475 muscle group of hip|hip musculature|set of muscles of hip MONDO:0020806 sinoatrial block biolink:Disease mondo SCTID:65778007 A heart block that is initiated in the sinoatrial node. SNOMEDCT:65778007 http://purl.obolibrary.org/obo/MONDO_0020806 UBERON:0004476 musculature of shoulder biolink:AnatomicalEntity mondo The collection of muscles that form attachments to the shoulder skeleton. http://purl.obolibrary.org/obo/UBERON_0004476 muscle group of shoulder|set of muscles of shoulder MONDO:0019890 non-distal trisomy 9q biolink:Disease mondo ICD10:Q92.3|SCTID:764997000|Orphanet:96112 Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. SNOMEDCT:764997000|ORPHA:96112 http://purl.obolibrary.org/obo/MONDO_0019890 non-telomeric trisomy 9q|non-distal duplication 9q|non-distal trisomy type 9q ordo_malformation_syndrome MONDO:0005248 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005248 MONDO:0005247 urinary tract infection (disease) biolink:Disease mondo NCIT:C50791|SCTID:68566005|EFO:0003103|ICD9:599.0 A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. NCIT:C50791|SNOMEDCT:68566005 http://purl.obolibrary.org/obo/MONDO_0005247 infection, urinary tract|tract, infection Of urinary|urinary tract infection|urinary tract infectious disease|UTI MONDO:0005249 pneumonia biolink:Disease mondo ICD9:484.8|ICD9:483.8|ICD10:J15|ICD9:486|COHD:255848|MESH:D011014|NCIT:C3333|EFO:0003106|UMLS:C0032285|DOID:552|ICD9:483|SCTID:233604007 An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. UMLS:C0032285|SNOMEDCT:233604007|NCIT:C3333|DOID:552|MESH:D011014 http://purl.obolibrary.org/obo/MONDO_0005249 acute pneumonia MONDO:0005244 peripheral neuropathy biolink:Disease mondo UMLS:C0442874|NCIT:C119734|NCIT:C4731|SCTID:386033004|ICD10:G62.9|EFO:0004149|DOID:870|MedDRA:10034606|EFO:0003100 A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. SNOMEDCT:386033004|NCIT:C4731|UMLS:C0442874|NCIT:C119734|DOID:870 http://purl.obolibrary.org/obo/MONDO_0005244 neuropathy|peripheral nerve disorder|peripheral neuropathy MONDO:0005243 obsolete Cushing syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005243 MONDO:0005246 osteomyelitis (disease) biolink:Disease mondo ICD9:730.0|DOID:1019|UMLS:C0029443|ICD9:730.28|ICD9:730.1|NCIT:C27577|GARD:0007286|ICD9:730.20|COHD:141663|ICD9:730.97|SCTID:60168000|ICD9:730.96|MESH:D010019|EFO:0003102|ICD9:730.94|ICD9:730.01|ICD9:730.93|ICD9:730.11|ICD9:730.92|HP:0002754|ICD9:730.10 An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria. UMLS:C0029443|SNOMEDCT:60168000|MESH:D010019|DOID:1019|NCIT:C27577 http://purl.obolibrary.org/obo/MONDO_0005246 osteomyelitis MONDO:0005245 obsolete testicular seminoma (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005245 MONDO:0005240 kidney disease biolink:Disease mondo ICD10:N08|SCTID:90708001|MESH:D007674|UMLS:C0022658|ICD9:583.81|ICD10:N28.9|EFO:0003086|DOID:557|NCIT:C3149 A disease involving the kidney. NCIT:C3149|DOID:557|MESH:D007674|SNOMEDCT:90708001|UMLS:C0022658 http://purl.obolibrary.org/obo/MONDO_0005240 nephropathy|kidney disease or disorder|disorder of kidney|renal disorder|disease of kidney|disorder of kidney|disease or disorder of kidney|kidney disease|kidney disorder|renal disease MONDO:0005242 empyema biolink:Disease mondo MESH:D004653|NCIT:C34572|ICD9:510|EFO:0003097|SCTID:312682007 An accumulation of pus in a body cavity, usually the pleural space. MESH:D004653|NCIT:C34572|SNOMEDCT:312682007 http://purl.obolibrary.org/obo/MONDO_0005242 collection of pus MONDO:0005241 obsolete adrenocortical carcinoma (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005241 MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin biolink:Disease mondo UMLS:CN202738|Orphanet:280598|ICD10:G60.0|GARD:0011010 ORPHA:280598|UMLS:CN202738 http://purl.obolibrary.org/obo/MONDO_0017237 gard_rare|ordo_disease MONDO:0017238 hemoglobinopathy Toms River biolink:Disease mondo ICD10:D58.2|Orphanet:280615 ORPHA:280615 http://purl.obolibrary.org/obo/MONDO_0017238 transient neonatal cyanosis and anemia due to Toms River Hemoglobin ordo_disease MONDO:0019899 distal monosomy 20q biolink:Disease mondo Orphanet:96152|ICD10:Q93.5 ORPHA:96152 http://purl.obolibrary.org/obo/MONDO_0019899 monosomy 20qter|telomeric deletion 20q|distal deletion 20q|distal monosomy type 20q ordo_malformation_syndrome MONDO:0017239 familial progressive hyper- and hypopigmentation biolink:Disease mondo ICD10:L81.8|Orphanet:280628 Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. ORPHA:280628 http://purl.obolibrary.org/obo/MONDO_0017239 FPHH ordo_disease MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion biolink:Disease mondo UMLS:CN206831|Orphanet:96147|ICD10:Q87.8 ORPHA:96147|UMLS:CN206831 http://purl.obolibrary.org/obo/MONDO_0019896 Kleefstra syndrome due to monosomy 9q34|9qSTDS|Kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|Kleefstra syndrome due to 9q subtelomeric deletion ordo_etiological_subtype MONDO:0017233 familial Alzheimer-like prion disease biolink:Disease mondo UMLS:CN202723|Orphanet:280397|SCTID:721219005|ICD10:A81.8|UMLS:C4303482 UMLS:CN202723|UMLS:C4303482|SNOMEDCT:721219005|ORPHA:280397 http://purl.obolibrary.org/obo/MONDO_0017233 ordo_disease MONDO:0017234 inherited prion disease biolink:Disease mondo Orphanet:280400|UMLS:CN202725|ICD10:A81.8 An instance of prion disease that is caused by an inherited modification of the individual's genome. UMLS:CN202725|ORPHA:280400 http://purl.obolibrary.org/obo/MONDO_0017234 familial prion disease|hereditary prion disease ordo_group_of_disorders MONDO:0019895 distal monosomy 4q biolink:Disease mondo Orphanet:96145|ICD10:Q93.5 ORPHA:96145 http://purl.obolibrary.org/obo/MONDO_0019895 distal monosomy type 4q|distal deletion 4q|telomeric deletion 4q|monosomy 4qter ordo_malformation_syndrome MONDO:0019898 distal monosomy 14q biolink:Disease mondo Orphanet:96150|ICD10:Q93.5 Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported. ORPHA:96150 http://purl.obolibrary.org/obo/MONDO_0019898 telomeric deletion 14q|distal deletion 14q|distal monosomy type 14q ordo_malformation_syndrome MONDO:0017235 familial omphalocele syndrome with facial dysmorphism biolink:Disease mondo UMLS:CN202726|Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. UMLS:CN202726|ORPHA:280403 http://purl.obolibrary.org/obo/MONDO_0017235 ordo_malformation_syndrome MONDO:0019897 distal monosomy 12q biolink:Disease mondo ICD10:Q93.5|Orphanet:96149 ORPHA:96149 http://purl.obolibrary.org/obo/MONDO_0019897 monosomy 12qter|distal monosomy type 12q|telomeric deletion 12q|distal deletion 12q ordo_malformation_syndrome MONDO:0017236 rapidly progressive glomerulonephritis biolink:Disease mondo ICD9:582.4|UMLS:C0221239|NCIT:C35264|ICD9:580.4|SCTID:236392004|MedDRA:10018378|DOID:4776|COHD:196464|ICD10:N01|Orphanet:280569|ICD9:583.4 Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. ORPHA:280569|SNOMEDCT:236392004|NCIT:C35264|MEDDRA:10018378|DOID:4776|UMLS:C0221239 http://purl.obolibrary.org/obo/MONDO_0017236 crescentic glomerulonephritis|RPGN ordo_disease NCBITaxon:140713 Tunga organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_140713 MONDO:0019892 distal monosomy 7p biolink:Disease mondo ICD10:Q93.5|Orphanet:96126 ORPHA:96126 http://purl.obolibrary.org/obo/MONDO_0019892 monosomy 7pter|distal monosomy type 7p|distal deletion 7p|telomeric deletion 7p ordo_malformation_syndrome PATO:0002182 molecular quality biolink:OntologyClass mondo A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. http://purl.obolibrary.org/obo/PATO_0002182 relational molecular quality MONDO:0019891 monosomy 22 biolink:Disease mondo NCIT:C36461|ICD10:Q93.0|Orphanet:96123|UMLS:C0795878 NCIT:C36461|UMLS:C0795878|ORPHA:96123 http://purl.obolibrary.org/obo/MONDO_0019891 monosomy type 22|deletion 22|Del(22) ordo_malformation_syndrome MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy biolink:Disease mondo Orphanet:280365|ICD10:E88.1|UMLS:CN202719 UMLS:CN202719|ORPHA:280365 http://purl.obolibrary.org/obo/MONDO_0017230 ordo_disease MONDO:0019894 obsolete non-distal monosomy 7p biolink:Disease mondo ICD10:Q93.5|Orphanet:96136 ORPHA:96136 http://purl.obolibrary.org/obo/MONDO_0019894 non-distal monosomy type 7p|non-telomeric monosomy 7p|non-distal deletion 7p MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy biolink:Disease mondo ICD10:E80.2|GARD:0010948|Orphanet:280379 ORPHA:280379 http://purl.obolibrary.org/obo/MONDO_0017231 gard_rare|ordo_disease MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome biolink:Disease mondo Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. ORPHA:280384 http://purl.obolibrary.org/obo/MONDO_0017232 IDMDC ordo_disease MONDO:0019893 distal monosomy 19p13.3 biolink:Disease mondo Orphanet:96129|ICD10:Q93.5 Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). ORPHA:96129 http://purl.obolibrary.org/obo/MONDO_0019893 telomeric deletion 19p|distal deletion 19p ordo_malformation_syndrome PATO:0002181 displaced biolink:OntologyClass mondo A positional quality inhering in a bearer by virtue the bearer's being changed in position. http://purl.obolibrary.org/obo/PATO_0002181 MONDO:0005259 Asperger syndrome biolink:Disease mondo DOID:0050432|ICD10:F84.5|EFO:0003757|SCTID:23560001|NCIT:C97159|GARD:0005855|MESH:D020817|OMIMPS:608638 A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism. SNOMEDCT:23560001|MESH:D020817|DOID:0050432|NCIT:C97159 http://purl.obolibrary.org/obo/MONDO_0005259 asperger syndrome, susceptibility to|autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language|ASPG MONDO:0005258 autism spectrum disorder biolink:Disease mondo COHD:439776|SCTID:408856003|EFO:0003756|DOID:0060041|NCIT:C88412 A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. NCIT:C88412|DOID:0060041|SNOMEDCT:408856003 http://purl.obolibrary.org/obo/MONDO_0005258 autistic spectrum disorder|pervasive developmental disorders MONDO:0005255 mild heart failure biolink:Disease mondo EFO:0003147|Wikipedia:New_York_Heart_Association_Functional_Classification Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity. http://purl.obolibrary.org/obo/MONDO_0005255 MONDO:0005254 symptomatic heart failure biolink:Disease mondo EFO:0003146 A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc http://purl.obolibrary.org/obo/MONDO_0005254 MF:0000061 orgasm biolink:OntologyClass mondo Orgasm is the sudden discharge of accumulated sexual tension during the sexual response cycle, resulting in rhythmic muscular contractions in the pelvic region characterized by sexual pleasure. http://en.wikipedia.org/wiki/Orgasm http://purl.obolibrary.org/obo/MF_0000061 MONDO:0005257 advanced heart failure biolink:Disease mondo Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003149 Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients. http://purl.obolibrary.org/obo/MONDO_0005257 MONDO:0020871 obsolete name syndrome biolink:Disease mondo Orphanet:623 ORPHA:623 http://purl.obolibrary.org/obo/MONDO_0020871 MONDO:0005256 moderate heart failure biolink:Disease mondo EFO:0003148|Wikipedia:New_York_Heart_Association_Functional_Classification Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest. http://purl.obolibrary.org/obo/MONDO_0005256 MONDO:0005251 obsolete pauciarticular juvenile rheumatoid arthritis biolink:Disease mondo EFO:0003114|SCTID:74391003|ICD9:714.32|ICD10:M08.4 A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children. SNOMEDCT:74391003 http://purl.obolibrary.org/obo/MONDO_0005251 MONDO:0005250 placental villitis biolink:Disease mondo SCTID:388604008|UMLS:C1270169|EFO:0003110 Inflammatory process that involves the chorionic villi (villitis) of the placenta. UMLS:C1270169|SNOMEDCT:388604008 http://purl.obolibrary.org/obo/MONDO_0005250 CHEBI:33608 hydrogen molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33608 hydrogen molecular entities|hydrogen compounds MONDO:0005253 high output heart failure biolink:Disease mondo UMLS:C0221045|SCTID:10091002|Wikipedia:High-output_cardiac_failure|EFO:0003145 High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal. SNOMEDCT:10091002|UMLS:C0221045 http://purl.obolibrary.org/obo/MONDO_0005253 MONDO:0005252 heart failure biolink:Disease mondo SCTID:84114007|MESH:D006333|ICD9:428|NCIT:C50577|EFO:0003144|COHD:316139|ICD9:428.9|UMLS:CN236639 Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. SNOMEDCT:84114007|NCIT:C50577|UMLS:CN236639|MESH:D006333 http://purl.obolibrary.org/obo/MONDO_0005252 cardiac failure|cardiac insufficiency|insufficiency, Cardiac|failure, heart|heart failure PATO:0002198 quality of a substance biolink:OntologyClass mondo A quality inhering in a bearer by virtue of its constitution. http://purl.obolibrary.org/obo/PATO_0002198 MONDO:0017226 Pelizaeus-Merzbacher-like disease biolink:Disease mondo ICD10:E75.2|SCTID:717042001|GARD:0012300|Orphanet:280270 Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD). ORPHA:280270|SNOMEDCT:717042001 http://purl.obolibrary.org/obo/MONDO_0017226 PMLD ordo_disease|gard_rare MONDO:0019889 distal trisomy 22q biolink:Disease mondo Orphanet:96109|SCTID:764512003|ICD10:Q92.3 Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported. SNOMEDCT:764512003|ORPHA:96109 http://purl.obolibrary.org/obo/MONDO_0019889 distal duplication 22q|telomeric duplication 22q|distal trisomy type 22q|trisomy 22qter ordo_malformation_syndrome MONDO:0017227 autoimmune pancreatitis type 1 biolink:Disease mondo Orphanet:280302|UMLS:CN202712|SCTID:722872000|UMLS:C4302243|ICD10:K86.1|EFO:1000780|PMID:25985088 60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease. SNOMEDCT:722872000|ORPHA:280302|UMLS:CN202712|UMLS:C4302243 http://purl.obolibrary.org/obo/MONDO_0017227 IgG4-related pancreatitis|AIP type 1|autoimmune pancreatitis type 1|lymphoplasmacytic sclerosing pancreatitis ordo_clinical_subtype MONDO:0019888 distal trisomy 20q biolink:Disease mondo Orphanet:96107|SCTID:764500002|ICD10:Q92.3 Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. SNOMEDCT:764500002|ORPHA:96107 http://purl.obolibrary.org/obo/MONDO_0019888 distal trisomy type 20q|trisomy 20qter|distal duplication 20q|telomeric duplication 20q ordo_malformation_syndrome MONDO:0020866 nasopharyngeal diphtheria biolink:Disease mondo ICD9:032.1|SCTID:75589004|NCIT:C34547|UMLS:C0012558 Infection of the nasopharynx by Corynebacterium diphtheriae. NCIT:C34547|UMLS:C0012558|SNOMEDCT:75589004 http://purl.obolibrary.org/obo/MONDO_0020866 nasopharyngeal diphtheria|Nasopharyngeal Diphtheria|Nasopharyngeal diphtheria MONDO:0017228 autoimmune pancreatitis type 2 biolink:Disease mondo ICD10:K86.1|Orphanet:280315|UMLS:CN202713 60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice. ORPHA:280315|UMLS:CN202713 http://purl.obolibrary.org/obo/MONDO_0017228 duct-centric pancreatitis|AIP type 2 ordo_clinical_subtype MONDO:0017229 distal monosomy 12p biolink:Disease mondo ICD10:Q93.5|Orphanet:280325|UMLS:CN202714 Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. ORPHA:280325|UMLS:CN202714 http://purl.obolibrary.org/obo/MONDO_0017229 distal monosomy type 12p|12p13.33 microdeletion syndrome|Del(12)(p13.33)|distal deletion 12p ordo_malformation_syndrome MONDO:0017222 Pelizaeus-Merzbacher disease, classic form biolink:Disease mondo SCTID:87607002|Orphanet:280219|ICD10:E75.2 The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. SNOMEDCT:87607002|UMLS:C0751916|ORPHA:280219 http://purl.obolibrary.org/obo/MONDO_0017222 classic PMD ordo_clinical_subtype MONDO:0019885 distal trisomy 11q biolink:Disease mondo MESH:C538294|SCTID:764447009|ICD10:Q92.3|Orphanet:96103 Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. UMLS:C2931797|SNOMEDCT:764447009|MESH:C538294|ORPHA:96103 http://purl.obolibrary.org/obo/MONDO_0019885 distal duplication 11q|telomeric duplication 11q|distal trisomy type 11q|trisomy 11qter ordo_malformation_syndrome MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form biolink:Disease mondo Orphanet:280224|ICD10:E75.2 The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD. ORPHA:280224|UMLS:C0751917 http://purl.obolibrary.org/obo/MONDO_0017223 transitional PMD ordo_clinical_subtype MONDO:0019884 distal trisomy 10q biolink:Disease mondo MESH:C538087|SCTID:718689000|ICD10:Q92.3|Orphanet:96102 Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. UMLS:C2931731|UMLS:C2931728|MESH:C538087|ORPHA:96102|SNOMEDCT:718689000 http://purl.obolibrary.org/obo/MONDO_0019884 distal duplication 10q|telomeric duplication 10q|distal trisomy type 10q|trisomy 10qter ordo_malformation_syndrome MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers biolink:Disease mondo UMLS:CN202706|ICD10:E75.2|Orphanet:280229 Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22). ORPHA:280229|UMLS:CN202706 http://purl.obolibrary.org/obo/MONDO_0017224 ordo_clinical_subtype MONDO:0019887 distal trisomy 16q biolink:Disease mondo SCTID:764459008|Orphanet:96106|ICD10:Q92.3 Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. SNOMEDCT:764459008|ORPHA:96106 http://purl.obolibrary.org/obo/MONDO_0019887 distal duplication 16q|telomeric duplication 16q|distal trisomy type 16q|trisomy 16qter ordo_malformation_syndrome MONDO:0019886 distal trisomy 13q biolink:Disease mondo SCTID:764454003|ICD10:Q92.3|Orphanet:96105 Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. ORPHA:96105|SNOMEDCT:764454003 http://purl.obolibrary.org/obo/MONDO_0019886 telomeric duplication 13q|distal trisomy type 13q|trisomy 13qter|distal duplication 13q ordo_malformation_syndrome MONDO:0017225 null syndrome biolink:Disease mondo UMLS:CN202707|Orphanet:280234|ICD10:E75.2 The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. ORPHA:280234|UMLS:CN202707 http://purl.obolibrary.org/obo/MONDO_0017225 PLP1 null syndrome|Pelizaeus-Merzbacher disease, null syndrome ordo_clinical_subtype MONDO:0019881 distal trisomy 6q biolink:Disease mondo ICD10:Q92.3|SCTID:763275001|MESH:C537810|Orphanet:96098 Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. SNOMEDCT:763275001|MESH:C537810|ORPHA:96098 http://purl.obolibrary.org/obo/MONDO_0019881 telomeric duplication 6q|distal duplication 6q|distal trisomy type 6q|trisomy 6qter ordo_malformation_syndrome MONDO:0019880 distal trisomy 5q biolink:Disease mondo SCTID:763274002|ICD10:Q92.3|Orphanet:96097 Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). SNOMEDCT:763274002|ORPHA:96097 http://purl.obolibrary.org/obo/MONDO_0019880 telomeric duplication 5q|distal trisomy type 5q|distal duplication 5q|trisomy 5qter ordo_malformation_syndrome MONDO:0019883 distal trisomy 9q biolink:Disease mondo ICD10:Q92.3|SCTID:764520001|Orphanet:96101 Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. ORPHA:96101|SNOMEDCT:764520001 http://purl.obolibrary.org/obo/MONDO_0019883 distal trisomy type 9q|trisomy 9qter|telomeric duplication 9q|distal duplication 9q ordo_malformation_syndrome MONDO:0017220 laryngotracheoesophageal cleft type 0 biolink:Disease mondo UMLS:CN202702|ICD10:Q32.1|Orphanet:280205 Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course. UMLS:CN202702|ORPHA:280205 http://purl.obolibrary.org/obo/MONDO_0017220 laryngo-tracheo-esophageal cleft type 0|LTEC0 ordo_clinical_subtype MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form biolink:Disease mondo UMLS:CN202703|ICD10:E75.2|Orphanet:280210 The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD. UMLS:CN202703|ORPHA:280210 http://purl.obolibrary.org/obo/MONDO_0017221 connatal PMD|severe PMD|Pelizaeus-Merzbacher disease type II ordo_clinical_subtype MONDO:0019882 distal trisomy 8q biolink:Disease mondo ICD10:Q92.3|Orphanet:96100|SCTID:763277009 Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). SNOMEDCT:763277009|ORPHA:96100 http://purl.obolibrary.org/obo/MONDO_0019882 trisomy 8qter|telomeric duplication 8q|distal duplication 8q|distal trisomy type 8q ordo_malformation_syndrome MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development biolink:Disease mondo OMIM:618541 http://identifiers.org/omim/618541 http://purl.obolibrary.org/obo/MONDO_0032805 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT; HOD MONDO:0032806 trichothiodystrophy 7, nonphotosensitive biolink:Disease mondo OMIM:618546 http://identifiers.org/omim/618546 http://purl.obolibrary.org/obo/MONDO_0032806 TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE; TTD7 HP:0100502 Vitamin B12 deficiency biolink:PhenotypicFeature mondo MSH:D014806|UMLS:C0042847|SNOMEDCT_US:190634004 http://purl.obolibrary.org/obo/HP_0100502 Vitamin B12 deficiency MONDO:0005229 bacterial infectious disease with sepsis biolink:Disease mondo SCTID:5758002|ICD9:790.7|EFO:0003033|MESH:D016470|DOID:0040085|UMLS:C0004610|Wikipedia:Bacteremia An infectious disease caused by bacteria causing sepsis. NCIT:C102993|DOID:0040085|MESH:D016470|UMLS:C0004610|SNOMEDCT:5758002 http://purl.obolibrary.org/obo/MONDO_0005229 Bacteremias|bacterial sepsis|symptomatic bacteremia|bacteremia MONDO:0032803 immunodeficiency 64 biolink:Disease mondo OMIM:618534 http://identifiers.org/omim/618534 http://purl.obolibrary.org/obo/MONDO_0032803 IMMUNODEFICIENCY 64; IMD64 MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type biolink:Disease mondo OMIM:618535 http://identifiers.org/omim/618535 http://purl.obolibrary.org/obo/MONDO_0032804 ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE; ECTD15 MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 biolink:Disease mondo OMIM:618531 http://identifiers.org/omim/618531 http://purl.obolibrary.org/obo/MONDO_0032801 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6 MF:0000075 mental quality biolink:OntologyClass mondo A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning. http://purl.obolibrary.org/obo/MF_0000075 MONDO:0007889 lentigines biolink:Disease mondo MESH:D007911|OMIM:150900 Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome). MESH:D007911|http://identifiers.org/omim/150900 http://purl.obolibrary.org/obo/MONDO_0007889 lentigines MONDO:0005226 obsolete acute basophilic leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005226 MONDO:0032802 deafness, autosomal dominant 37 biolink:Disease mondo OMIM:618533 http://identifiers.org/omim/618533 http://purl.obolibrary.org/obo/MONDO_0032802 DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37 MF:0000076 intentional modality biolink:OntologyClass mondo A structural capacity that shapes how an object of intentionality is represented for the subject. http://purl.obolibrary.org/obo/MF_0000076 MONDO:0005225 obsolete acute myeloblastic leukemia with maturation biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005225 MONDO:0007887 leiomyoma of vulva and esophagus biolink:Disease mondo GARD:0010097|UMLS:C1835488|MESH:C537006|OMIM:150700 http://identifiers.org/omim/150700|UMLS:C1835488|MESH:C537006 http://purl.obolibrary.org/obo/MONDO_0007887 leiomyomatosis, esophagogastric and vulvar|leiomyoma of vulva and esophagus|esophagogastric and vulvar leiomyomatosis gard_rare MONDO:0005228 obsolete anaplastic large cell lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005228 MONDO:0005227 abscess biolink:Disease mondo COHD:444202|ICD9:682.9|ICD9:682.8|EFO:0003030|Wikipedia:Abscess|MESH:D000038|UMLS:C0000833|SCTID:128477000|NCIT:C26686 An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body. SNOMEDCT:128477000|NCIT:C26686|MESH:D000038|UMLS:C0000833 http://purl.obolibrary.org/obo/MONDO_0005227 MONDO:0007888 hereditary leiomyomatosis and renal cell cancer biolink:Disease mondo NCIT:C51302|Orphanet:523|UMLS:CN239164|GARD:0010096|ICD10:C64|GARD:0003218|MESH:C535516|UMLS:CN073087|OMIM:150800|UMLS:C1708350 Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. http://identifiers.org/omim/150800|UMLS:CN239164|UMLS:C1708350|UMLS:CN073087|NCIT:C51302|ORPHA:523|MESH:C535516 http://purl.obolibrary.org/obo/MONDO_0007888 leiomyoma, multiple cutaneous|hereditary multiple cutaneous leiomyomas|HLRCC|leiomyomatosis and renal cell cancer, hereditary|hereditary leiomyomatosis|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|LRCC|leiomyomatosis familial|multiple cutaneous leiomyomata|MCUL|hereditary leiomyomatosis with renal carcinoma|multiple cutaneous and uterine leiomyomas|hereditary leiomyomatosis and renal cell cancer syndrome|hereditary leiomyomatosis and renal cell cancer; HLRCC|familial leiomyomatosis|multiple cutaneous and uterine leiomyomata|hereditary leiomyomatosis and renal cell carcinoma|familial leiomyomatosis and renal cell cancer|hereditary leiomyomatosis and renal cell cancer|familial leiomyomatosis cutis et uteri|familial multiple cutaneous leiomyomas|Reed's syndrome|familial leiomyomatosis with renal carcinoma|Reed syndrome ordo_disease|gard_rare MONDO:0032800 robinow syndrome, autosomal recessive 2 biolink:Disease mondo OMIM:618529 http://identifiers.org/omim/618529 http://purl.obolibrary.org/obo/MONDO_0032800 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2; RRS2 MONDO:0007885 Legg-Calve-Perthes disease biolink:Disease mondo MedDRA:10034735|UMLS:C0023234|GARD:0006874|ICD10:M91.3|ICD10:M91.2|DOID:14415|NCIT:C34766|EFO:0007341|Orphanet:2380|ICD10:M91.1|SCTID:15739006|MESH:D007873|OMIM:150600 Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children. http://identifiers.org/omim/150600|ORPHA:2380|DOID:14415|NCIT:C34766|MEDDRA:10034735|SNOMEDCT:15739006|UMLS:C0023234|MESH:D007873 http://purl.obolibrary.org/obo/MONDO_0007885 osteochondritis of the capital femoral epiphysis|Calve - Perthes' disease|aseptic necrosis of the capital femoral epiphysis|osteochondrosis of Legg-Calve-Perthes|Pseudocoxalgia|juvenile osteochondrosis of hip and pelvis|Lcp|Perthes disease|Legg-CALVE-Perthes disease; LCPD|Legg-Perthes disease|Legg-Calve-Perthes syndrome|Osteochondrosis of the capital femoral epiphysis|Legg-Calve-Perthes disease|Legg-Calve-Perthes symptom|juvenile osteochond-hip/pelvis|osteochondritis deformans|Perthe's disease|coxa plana|LCPD|juvenile osteochondrosis of hip and/or pelvis|pseudocoxalgia|Legg-Calvé-Perthes disease gard_rare|ordo_disease MONDO:0020863 laryngeal diphtheria biolink:Disease mondo SCTID:50215002|NCIT:C34546|UMLS:C0012557|ICD9:032.3 Infection of the larynx by Corynebacterium diphtheriae. SNOMEDCT:50215002|NCIT:C34546|UMLS:C0012557 http://purl.obolibrary.org/obo/MONDO_0020863 laryngeal diphtheria|Diphtheritic laryngotracheitis|Laryngeal Diphtheria|diphtheritic laryngotracheitis|Laryngeal diphtheria MONDO:0005222 obsolete acute megakaryoblastic leukaemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005222 MONDO:0007886 uterine corpus leiomyoma biolink:Disease mondo ICD10:D25|UMLS:C2242776|OMIM:150699|ICD10:D25.9|UMLS:C0042133|HP:0000131|ICD9:218|SCTID:95315005|COHD:197236|ICD9:218.9|DOID:13223|EFO:0000731|ONCOTREE:ULM|NCIT:C3434 A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. http://identifiers.org/omim/150699|NCIT:C3434|SNOMEDCT:95315005|UMLS:C0042133|UMLS:C2242776|DOID:13223 http://purl.obolibrary.org/obo/MONDO_0007886 leiomyoma of uterine corpus|leiomyoma of the corpus uteri|uterine body fibroid|fibroid of corpus uteri|fibroid of body of uterus|leiomyoma of the body of uterus|body of uterus leiomyoma|fibroid of uterine corpus|leiomyoma of the uterine corpus|UL|plexiform leiomyoma|fibroid of the body of uterus|fibroid of the corpus uteri|fibroid of the uterine corpus|uterine leiomyoma|leiomyoma of uterine body|leiomyoma of the uterine body|fibroid of uterine body|leiomyoma of corpus uteri|fibroid of the uterine body|corpus uteri leiomyoma|body of uterus fibroid|uterine corpus leiomyoma|corpus uteri fibroid|uterine corpus fibroid|uterine fibroid|leiomyoma, uterine; UL|uterine corpus leiomyomata|leiomyoma, uterine|uterus fibroma|uterine body leiomyoma|leiomyoma of body of uterus MONDO:0005221 renal pelvis urothelial carcinoma biolink:Disease mondo UMLS:C0238410|NCIT:C7355|DOID:5974|ICD9:189.0|SCTID:408642003|EFO:0003017 A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. UMLS:C0238410|SNOMEDCT:408642003|DOID:5974|NCIT:C7355 http://purl.obolibrary.org/obo/MONDO_0005221 transitional cell carcinoma of renal pelvis|renal pelvis urothelial cancer|transitional cell carcinoma of the renal pelvis|renal pelvis transitional cell carcinoma|urothelial cell carcinoma of the renal pelvis|urothelial cell carcinoma of renal pelvis|renal pelvis urothelial carcinoma|kidney renal pelvis urothelial cancer MONDO:0005224 acute myeloblastic leukemia without maturation biolink:Disease mondo NCIT:C3249|SCTID:359640008|ICDO:9873/3|GARD:0000526|ICD10:C92.0|EFO:0003027|Orphanet:98833|ONCOTREE:AWM An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001) NCIT:C3249|SNOMEDCT:359640008|ORPHA:98833 http://purl.obolibrary.org/obo/MONDO_0005224 acute M1 myeloid leukemia|acute myeloid leukemia without maturation (FAB M1)|acute granulocytic leukemia without maturation|M1 acute myelocytic leukemia without maturation|M1 acute myelogenous leukemia without maturation|M1 acute myeloblastic leukemia|M1 acute granulocytic leukemia without maturation|M1 acute myeloid leukemia without maturation|M1 acute myeloid leukemia|AML without maturation|M1 acute myeloblastic leukemia without maturation|M1 acute granulocytic leukemia|acute myelogenous leukemia without maturation|M1 acute myelogenous leukemia|acute myeloblastic leukemia M1|AWM|FAB M1|acute myeloblastic leukemia type 1|acute myeloid leukemia without maturation|AML M1|M1 acute myelocytic leukemia|acute myelocytic leukemia without maturation gard_rare|ordo_disease MONDO:0007883 lazy leukocyte syndrome biolink:Disease mondo OMIM:150550|MESH:C562721|UMLS:C0272174|SCTID:71436005|ICD9:288.09 http://identifiers.org/omim/150550|MESH:C562721|UMLS:C0272174|SNOMEDCT:71436005 http://purl.obolibrary.org/obo/MONDO_0007883 lazy leukocyte syndrome MF:0000073 intentionality biolink:OntologyClass mondo Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something. http://purl.obolibrary.org/obo/MF_0000073 MONDO:0007884 leg ulcers, familial, of juvenile onset biolink:Disease mondo MESH:C563632|OMIM:150590|UMLS:C1835489 MESH:C563632|http://identifiers.org/omim/150590|UMLS:C1835489 http://purl.obolibrary.org/obo/MONDO_0007884 leg ulcers, familial, of juvenile onset MONDO:0020860 faucial diphtheria biolink:Disease mondo ICD9:032.0|SCTID:3419005|NCIT:C34545|UMLS:C0012556 Infection of the fauces by Corynebacterium diphtheriae. NCIT:C34545|SNOMEDCT:3419005|UMLS:C0012556 http://purl.obolibrary.org/obo/MONDO_0020860 faucial diphtheria|Diphtheritic membrane|Faucial Diphtheria|diphtheritic membrane|Faucial diphtheria|Diphtheritic membranous angina|diphtheritic membranous angina MONDO:0005223 acute myeloid leukemia with minimal differentiation biolink:Disease mondo ICDO:9872/3|ICD10:C92.0|UMLS:C0522631|ONCOTREE:AMLMD|Orphanet:98832|EFO:0003026|NCIT:C8460 An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) UMLS:C0522631|ORPHA:98832|NCIT:C8460 http://purl.obolibrary.org/obo/MONDO_0005223 acute myeloid leukemia with minimal differentiation|acute myeloid leukemia with minimal differentiation (MO)|M0 myeloid leukemia with minimal differentiation|acute myelocytic leukemia with minimal differentiation|M0 myeloid leukemia|acute myeloblastic leukemia, minimally differentiated|M0 acute myeloblastic leukemia|AMLMD|M0 acute myelogenous leukemia|acute myeloblastic leukemia with minimal differentiation|M0 acute granulocytic leukemia with minimal differentiation|M0 acute granulocytic leukemia|M0 acute myelogenous leukemia with minimal differentiation|AML M0|acute myeloid leukemia, minimally differentiated|AML with minimal differentiation|minimally differentiated acute myeloblastic leukemia|acute myelogenous leukemia with minimal differentiation|M0 acute myelocytic leukemia ordo_disease MF:0000074 bodily quality biolink:OntologyClass mondo A bodily quality is a quality that inheres in some extended organism. http://purl.obolibrary.org/obo/MF_0000074 MONDO:0007881 tooth agenesis, selective, 4 biolink:Disease mondo MESH:C563634|OMIM:150400 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. http://identifiers.org/omim/150400|MESH:C563634 http://purl.obolibrary.org/obo/MONDO_0007881 STHAG4|tooth agenesis, selective, 4, with or without ectodermal dysplasia|WNT10A tooth agenesis|tooth agenesis, selective, 4|tooth agenesis, selective, 4; STHAG4|tooth agenesis, selective, type 4|tooth agenesis caused by mutation in WNT10A|lateral incisors, pegged or missing|lateral incisors, absence of|succedaneous teeth, agenesis of MONDO:0032809 hepatitis, fulminant viral, susceptibility to biolink:Disease mondo OMIM:618549 http://identifiers.org/omim/618549 http://purl.obolibrary.org/obo/MONDO_0032809 HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH FOODON:00001173 plant seed food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001173 MONDO:0007882 lattice degeneration of retina leading to retinal detachment biolink:Disease mondo MESH:C563633|UMLS:C1835491|OMIM:150500 http://identifiers.org/omim/150500|UMLS:C1835491|MESH:C563633 http://purl.obolibrary.org/obo/MONDO_0007882 lattice degeneration of retina leading to retinal detachment MONDO:0005220 collecting duct carcinoma biolink:Disease mondo ICD10:C64|ONCOTREE:CDRCC|GARD:0009573|UMLS:C1266044|NCIT:C6194|DOID:4464|EFO:0003016|ICDO:8319/3|Orphanet:247203 A carcinoma that arises from epithelial cells of the collecting duct of renal tubule ORPHA:247203|UMLS:C1266044|DOID:4464|NCIT:C6194 http://purl.obolibrary.org/obo/MONDO_0005220 carcinoma of the collecting ducts of Bellini|carcinoma of collecting ducts of Bellini|renal carcinoma, collecting duct type|Bellini’s duct carcinoma|kidney collecting duct carcinoma|Bellini duct carcinoma|carcinoma of renal collecting duct|collecting duct renal cell carcinoma|collecting duct renal cancer|renal collecting duct carcinoma|cDC|carcinoma of kidney collecting duct|collecting duct carcinoma of the kidney|carcinoma of the kidney collecting duct|renal medullary carcinoma|Bellini carcinoma|carcinoma of collecting duct of renal tubule|BDC|collecting duct of renal tubule carcinoma|carcinoma of the renal collecting duct|collecting duct carcinoma ordo_disease MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies biolink:Disease mondo OMIM:618547 http://identifiers.org/omim/618547 http://purl.obolibrary.org/obo/MONDO_0032807 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA MONDO:0007880 congenital laryngeal web biolink:Disease mondo OMIM:150360|MESH:C563636|MedDRA:10023871|NCIT:C98970|SCTID:444921008|Orphanet:2374|GARD:0002446|ICD10:Q31.0|MESH:C537676 Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. NCIT:C98970|UMLS:C0152416|ORPHA:2374|MESH:C537676|MEDDRA:10023871|SNOMEDCT:444921008|http://identifiers.org/omim/150360|MESH:C563636 http://purl.obolibrary.org/obo/MONDO_0007880 gay Feinmesser Cohen syndrome|Laryngeal web|laryngeal web, familial|laryngeal web, congenital heart disease and low stature|subglottic web|glottic web, congenital anterior|subglottic Bar|subglottic bar, congenital heart disease and low stature gard_rare|ordo_malformation_syndrome MONDO:0032808 developmental and epileptic encephalopathy, 77 biolink:Disease mondo OMIM:618548 http://identifiers.org/omim/618548 http://purl.obolibrary.org/obo/MONDO_0032808 glycosylphosphatidylinositol biosynthesis defect 19|epileptic encephalopathy, early infantile, 77|multiple congenital anomalies-hypotonia-seizures syndrome 4|EIEE77|DEE77 FOODON:00001172 nut food product biolink:OntologyClass mondo SUBSET_SIREN:F16972 http://purl.obolibrary.org/obo/FOODON_00001172 MONDO:0017219 microform holoprosencephaly biolink:Disease mondo UMLS:CN236719|Orphanet:280200|UMLS:CN202701|ICD10:Q04.2 Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage. UMLS:CN236719|ORPHA:280200|UMLS:CN202701 http://purl.obolibrary.org/obo/MONDO_0017219 Microform HPE|HoloprosencC)phalie, minor form|Holoprosencéphalie, minor form|HPE, minor form|HPE-L|holoprosencephaly-like ordo_malformation_syndrome MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 biolink:Disease mondo OMIM:618120 http://identifiers.org/omim/618120 http://purl.obolibrary.org/obo/MONDO_0020858 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5|Mitochondrial Complex 5 (Atp Synthase) Deficiency, Atp5F1D Type|MC5DN5 MONDO:0020857 ovarian dysgenesis 7 biolink:Disease mondo OMIM:618117 http://identifiers.org/omim/618117 http://purl.obolibrary.org/obo/MONDO_0020857 ODG7|OVARIAN DYSGENESIS 7; ODG7 FOODON:00001176 invertebrate animal food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001176 MONDO:0020856 bone marrow failure syndrome 4 biolink:Disease mondo OMIM:618116 http://identifiers.org/omim/618116 http://purl.obolibrary.org/obo/MONDO_0020856 BMFS4|BONE MARROW FAILURE SYNDROME 4; BMFS4 MONDO:0017215 calciphylaxis biolink:Disease mondo ICD10:E83.5|MESH:D002115|UMLS:C0006666|NCIT:C84607|ICD9:275.49|GARD:0005980|SCTID:237900002|DOID:4734|MedDRA:10051714|Orphanet:280062 Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. ORPHA:280062|UMLS:C0006666|NCIT:C84607|SNOMEDCT:237900002|MESH:D002115|DOID:4734|MEDDRA:10051714 http://purl.obolibrary.org/obo/MONDO_0017215 idiopathic calciphylaxis gard_rare|ordo_disease MONDO:0019878 3q26 microduplication syndrome biolink:Disease mondo ICD10:Q92.3|Orphanet:96095|UMLS:CN206814 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. UMLS:CN206814|ORPHA:96095 http://purl.obolibrary.org/obo/MONDO_0019878 dup(3q) syndrome|trisomy 3q26|Cornelia de Lange-like syndrome|dup(3)(q26) ordo_malformation_syndrome MONDO:0019877 distal trisomy 2q biolink:Disease mondo ICD10:Q92.3|SCTID:763272003|Orphanet:96094 Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. ORPHA:96094|SNOMEDCT:763272003 http://purl.obolibrary.org/obo/MONDO_0019877 trisomy 2qter|telomeric duplication 2q|distal trisomy type 2q|distal duplication 2q ordo_malformation_syndrome MONDO:0017216 calciphylaxis cutis biolink:Disease mondo ICD10:E83.5|SCTID:717043006|Orphanet:280065|UMLS:C4274083 Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation. ORPHA:280065|SNOMEDCT:717043006|UMLS:C4274083 http://purl.obolibrary.org/obo/MONDO_0017216 ordo_clinical_subtype MONDO:0020855 spermatogenic failure 32 biolink:Disease mondo OMIM:618115 http://identifiers.org/omim/618115 http://purl.obolibrary.org/obo/MONDO_0020855 spermatogenic failure 32; SPGF32|SPGF32 MONDO:0017217 visceral calciphylaxis biolink:Disease mondo Orphanet:280068|ICD10:E83.5 Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation. ORPHA:280068 http://purl.obolibrary.org/obo/MONDO_0017217 ordo_clinical_subtype MONDO:0020854 Liddle syndrome 2 biolink:Disease mondo OMIM:618114 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. http://identifiers.org/omim/618114 http://purl.obolibrary.org/obo/MONDO_0020854 Liddle syndrome caused by mutation in SCNN1G|SCNN1G Liddle syndrome|LIDLS2|Liddle syndrome 2; LIDLS2 MONDO:0017218 septopreoptic holoprosencephaly biolink:Disease mondo ICD10:Q04.2|UMLS:CN202699|Orphanet:280195 Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. ORPHA:280195|UMLS:CN202699 http://purl.obolibrary.org/obo/MONDO_0017218 Septopreoptic HPE ordo_clinical_subtype MONDO:0019879 distal trisomy 4q biolink:Disease mondo ICD10:Q92.3|Orphanet:96096|SCTID:763273008 Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. ORPHA:96096|SNOMEDCT:763273008 http://purl.obolibrary.org/obo/MONDO_0019879 trisomy 4qter|telomeric duplication 4q|distal trisomy type 4q|distal duplication 4q ordo_malformation_syndrome MONDO:0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization biolink:Disease mondo OMIM:618113 http://identifiers.org/omim/618113 http://purl.obolibrary.org/obo/MONDO_0020853 MMERV|encephalitis/encephalopathy, mild, with reversible myelin vacuolization; MMERV|Encephalitis/encephalopathy, mild, with reversible splenial lesion MONDO:0019874 distal trisomy 7p biolink:Disease mondo ICD10:Q92.3|Orphanet:96074|SCTID:763276000 Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. SNOMEDCT:763276000|ORPHA:96074 http://purl.obolibrary.org/obo/MONDO_0019874 trisomy 7pter|telomeric duplication 7p|distal duplication 7p|distal trisomy type 7p ordo_malformation_syndrome MONDO:0017211 infectious panuveitis biolink:Disease mondo Orphanet:279925|ICD10:H44.1 ORPHA:279925 http://purl.obolibrary.org/obo/MONDO_0017211 ordo_disease MONDO:0017212 paraneoplastic uveitis biolink:Disease mondo Orphanet:279928 ORPHA:279928 http://purl.obolibrary.org/obo/MONDO_0017212 ordo_disease MONDO:0019873 4p16.3 microduplication syndrome biolink:Disease mondo UMLS:CN206808|SCTID:726706008|Orphanet:96072|UMLS:C4512053|ICD10:Q92.3 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. SNOMEDCT:726706008|ORPHA:96072|UMLS:C4512053|UMLS:CN206808 http://purl.obolibrary.org/obo/MONDO_0019873 telomeric duplication 4p|distal duplication 4p|distal trisomy 4p|trisomy 4pter ordo_malformation_syndrome MONDO:0017213 postorgasmic illness syndrome biolink:Disease mondo UMLS:CN202682|Orphanet:279947|GARD:0010809 Postorgasmic illness syndrome (POIS) is a rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS. UMLS:CN202682|ORPHA:279947 http://purl.obolibrary.org/obo/MONDO_0017213 POIS|post orgasmic sick syndrome gard_rare|ordo_clinical_syndrome MONDO:0019876 8p inverted duplication/deletion syndrome biolink:Disease mondo ICD10:Q99.8|SCTID:718188007|Orphanet:96092|UMLS:CN206812 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. UMLS:CN206812|SNOMEDCT:718188007|ORPHA:96092 http://purl.obolibrary.org/obo/MONDO_0019876 Invdupdel(8p)|inverted 8p duplication/deletion syndrome ordo_malformation_syndrome MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication biolink:Disease mondo Orphanet:96076|UMLS:CN206810|ICD10:Q87.3 UMLS:CN206810|ORPHA:96076 http://purl.obolibrary.org/obo/MONDO_0019875 ordo_etiological_subtype MONDO:0017214 vitamin B12-responsive methylmalonic acidemia biolink:Disease mondo ICD10:E71.1|Orphanet:28|SCTID:69614003|GARD:0012623 Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). ORPHA:28|SNOMEDCT:69614003 http://purl.obolibrary.org/obo/MONDO_0017214 adenosylcobalamin deficiency|vitamin B12-responsive methylmalonic aciduria ordo_disease|gard_rare HP:0100508 Abnormality of vitamin metabolism biolink:PhenotypicFeature mondo UMLS:C4022036 An anomaly in the metabolism of a vitamin. http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism MONDO:0019870 distal trisomy 1p36 biolink:Disease mondo ICD10:Q92.3|UMLS:CN244049|Orphanet:96069|SCTID:766053003 Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. UMLS:CN244049|SNOMEDCT:766053003|ORPHA:96069 http://purl.obolibrary.org/obo/MONDO_0019870 distal trisomy type 1p36|trisomy 1pter|telomeric duplication 1p36|distal duplication 1p36 ordo_malformation_syndrome MONDO:0019872 distal trisomy 3p biolink:Disease mondo Orphanet:96071|SCTID:764519007|ICD10:Q92.3 Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. SNOMEDCT:764519007|ORPHA:96071 http://purl.obolibrary.org/obo/MONDO_0019872 telomeric duplication 3p|distal duplication 3p|distal trisomy type 3p|trisomy 3pter ordo_malformation_syndrome MONDO:0019871 distal trisomy 2p biolink:Disease mondo Orphanet:96070|ICD10:Q92.3|SCTID:764518004 Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. SNOMEDCT:764518004|ORPHA:96070 http://purl.obolibrary.org/obo/MONDO_0019871 telomeric duplication 2p|distal duplication 2p|distal trisomy type 2p|trisomy 2pter ordo_malformation_syndrome MONDO:0017210 infectious anterior uveitis biolink:Disease mondo UMLS:C0154911|DOID:9389|COHD:440716|ICD10:H20.2|ICD10:H20.1|ICD10:H20.0|Orphanet:279922|ICD10:H20.03|ICD10:H20.9|ICD9:364.03|ICD10:H20.8|SCTID:193487008 An infectious disease involving a pathogenic inflammatory response in the anterior uvea. DOID:9389|UMLS:C0154911|SNOMEDCT:193487008|ORPHA:279922 http://purl.obolibrary.org/obo/MONDO_0017210 secondary iridocyclitis, infectious|secondary infected iridocyclitis|infectious secondary iridocyclitis clingen|ordo_disease MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly biolink:Disease mondo OMIM:618569 http://identifiers.org/omim/618569 http://purl.obolibrary.org/obo/MONDO_0032816 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM HP:0100512 Low levels of vitamin D biolink:PhenotypicFeature mondo SNOMEDCT_US:34713006|UMLS:C0042870|MSH:D014808 A reduced concentration of Vitamin D. http://purl.obolibrary.org/obo/HP_0100512 Deficient in vitamin D|Vitamin D deficiency MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies biolink:Disease mondo OMIM:618571 http://identifiers.org/omim/618571 http://purl.obolibrary.org/obo/MONDO_0032817 NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant biolink:Disease mondo OMIM:618564 http://identifiers.org/omim/618564 http://purl.obolibrary.org/obo/MONDO_0032814 MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL|Dementia, Hereditary Multi-Infarct, Swedish Type UBERON:0016497 epicondyle of humerus biolink:AnatomicalEntity mondo A epicondyle that is part of a humerus. http://purl.obolibrary.org/obo/UBERON_0016497 MONDO:0032815 mitochondrial DNA depletion syndrome 17 biolink:Disease mondo OMIM:618567 http://identifiers.org/omim/618567 http://purl.obolibrary.org/obo/MONDO_0032815 MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 HP:0100511 Abnormality of vitamin D metabolism biolink:PhenotypicFeature mondo UMLS:C4022035 http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism MONDO:0032812 developmental and epileptic encephalopathy, 78 biolink:Disease mondo OMIM:618557 http://identifiers.org/omim/618557 http://purl.obolibrary.org/obo/MONDO_0032812 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78; EIEE78|epileptic encephalopathy, early infantile, 78|DEE78 MONDO:0005237 obsolete pleomorphic liposarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005237 UBERON:0016491 vertebral centrum element biolink:AnatomicalEntity mondo Skeletal element that functionally replaces the notochord[VSAP,modified]. http://purl.obolibrary.org/obo/UBERON_0016491 périchorde@fr|centre vertébral@fr|centrum of vertebra|centrum MONDO:0032813 developmental and epileptic encephalopathy, 79 biolink:Disease mondo OMIM:618559 http://identifiers.org/omim/618559 http://purl.obolibrary.org/obo/MONDO_0032813 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79; EIEE79|DEE79|epileptic encephalopathy, early infantile, 79 MONDO:0005236 xanthoma (disease) biolink:Disease mondo HP:0001114|EFO:0003075|NCIT:C4071 A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. NCIT:C4071 http://purl.obolibrary.org/obo/MONDO_0005236 xanthoma UBERON:0016490 auditory system biolink:AnatomicalEntity mondo is the sensory system for the sense of hearing. http://purl.obolibrary.org/obo/UBERON_0016490 MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of biolink:Disease mondo OMIM:151500|MESH:C563626|UMLS:C1835405 MESH:C563626|UMLS:C1835405|http://identifiers.org/omim/151500 http://purl.obolibrary.org/obo/MONDO_0007898 leukocyte nuclear appendages, hereditary prevalence of MONDO:0032810 oocyte maturation defect 7 biolink:Disease mondo OMIM:618550 http://identifiers.org/omim/618550 http://purl.obolibrary.org/obo/MONDO_0032810 OOCYTE MATURATION DEFECT 7; OOMD7 MONDO:0005239 obsolete dedifferentiated liposarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005239 MONDO:0007899 lichen sclerosus et atrophicus biolink:Disease mondo NCIT:C26817|COHD:4119189|SCTID:25674000|GARD:0006905|MESH:D018459|OMIM:151590|ICD10:L90.0|UMLS:C0023652 A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis. UMLS:C0023652|MESH:D018459|http://identifiers.org/omim/151590|NCIT:C26817|SNOMEDCT:25674000 http://purl.obolibrary.org/obo/MONDO_0007899 lichen sclerosus|lichen sclerosis et atrophicus|lichen sclerosis|lichen SCLEROSUS ET ATROPHICUS; LSA|LSA|lichen sclerosus et atrophicus MONDO:0005238 round cell liposarcoma biolink:Disease mondo SCTID:404070007|EFO:0003084|ICD9:171.9|ICDO:8853/3|DOID:5692|NCIT:C4252|UMLS:C0334471 A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma. SNOMEDCT:404070007|NCIT:C4252|UMLS:C0334471|DOID:5692 http://purl.obolibrary.org/obo/MONDO_0005238 round cell liposarcoma|round cell liposarcoma (morphologic abnormality)|cellular myxoid liposarcoma MONDO:0032811 night blindness, congenital stationary, type1i biolink:Disease mondo OMIM:618555 http://identifiers.org/omim/618555 http://purl.obolibrary.org/obo/MONDO_0032811 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I MONDO:0007896 acute monocytic leukemia biolink:Disease mondo OMIM:151380|ICDO:9891/3|Orphanet:514|MedDRA:10059439|NCIT:C4861|CSP:2004-2820|ONCOTREE:AMOL|SCTID:413441006|GARD:0000525|UMLS:C0023465|MedDRA:10000871|UMLS:C1318544|COHD:135768|DOID:8864|MESH:D007948|EFO:0000221|ICD9:206.0|ICD10:C92.7 Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11). UMLS:C1318544|NCIT:C4861|DOID:8864|MEDDRA:10000871|ORPHA:514|SNOMEDCT:413441006|MEDDRA:10059439|UMLS:C0023465|http://identifiers.org/omim/151380|UMLS:C0457334|MESH:D007948 http://purl.obolibrary.org/obo/MONDO_0007896 acute monocytic leukemia, morphology (morphologic abnormality)|acute monoblastic/monocytic leukemia|AML M5|acute monocytic leukemia without mention of remission|acute monocytic leukemia|AML-M5|acute monocytic leukemia, morphology|acute myeloblastic leukemia type 5|acute monoblastic leukemia and acute monocytic leukemia|monocytic leukemia|leukemia, monocytic, malignant|acute monocytic leukemia (FAB M5B)|acute monocytic leukemia (FAB M5b)|acute monoblastic leukemia|leukemia, acute monocytic|monocytic leukemia, acute|acute monocytic leukemia, FAB M5 gard_rare|ordo_disease MONDO:0005233 non-small cell lung carcinoma (disease) biolink:Disease mondo KEGG:05223|UMLS:C0007131|EFO:0003060|DOID:3908|ICD10:C34|HP:0030358|MESH:D002289|ONCOTREE:NSCLC|NCIT:C2926|SCTID:254637007 A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy. MESH:D002289|SNOMEDCT:254637007|NCIT:C2926|UMLS:C0007131|DOID:3908 http://purl.obolibrary.org/obo/MONDO_0005233 NSCLC|non-small cell lung carcinoma|NSCLC - non-small cell lung cancer|non-small cell carcinoma of lung|non-small cell lung cancer, NOS|non-small cell carcinoma of the lung|non-small cell lung cancer|non-small cell cancer of lung|non-small cell cancer of the lung|non small cell lung cancer NOS FOODON:00001180 prepared food product biolink:OntologyClass mondo Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. http://purl.obolibrary.org/obo/FOODON_00001180 prepared MONDO:0020852 spermatogenic failure 31 biolink:Disease mondo OMIM:618112 http://identifiers.org/omim/618112 http://purl.obolibrary.org/obo/MONDO_0020852 SPGF31|spermatogenic failure 31; SPGF31 MONDO:0020851 spermatogenic failure 30 biolink:Disease mondo OMIM:618110 http://identifiers.org/omim/618110 http://purl.obolibrary.org/obo/MONDO_0020851 SPGF30|spermatogenic failure 30; SPGF30 MONDO:0005232 large cell carcinoma biolink:Disease mondo DOID:4552|UMLS:C0206704|NCIT:C3780|ICDO:8012/3|MESH:D018287 A malignant epithelial neoplasm composed of large, atypical cells. NCIT:C3780|DOID:4552|UMLS:C0206704|MESH:D018287 http://purl.obolibrary.org/obo/MONDO_0005232 carcinoma, large cell|large cell carcinoma MONDO:0007897 obsolete leukemia, chronic lymphocytic biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007897 MONDO:0007894 Leri pleonosteosis biolink:Disease mondo UMLS:C1835450|Orphanet:2900|MESH:C537118|OMIM:151200|GARD:0000088|ICD10:Q68.8 Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner. UMLS:C1835450|MESH:C537118|ORPHA:2900|UMLS:C0265311|http://identifiers.org/omim/151200 http://purl.obolibrary.org/obo/MONDO_0007894 Leri's pleonosteosis|Leri type pleonosteosis|pleonosteosis Leri type|Leri pleonosteosis|chromosome 8q22.1 DUPLICATION syndrome ordo_malformation_syndrome|gard_rare MONDO:0005235 smoldering plasma cell myeloma biolink:Disease mondo EFO:0003073|DOID:9551|NCIT:C7149|SCTID:440422002 A plasma cell myeloma lacking clinical manifestations and organ impairment. DOID:9551|SNOMEDCT:440422002|NCIT:C7149 http://purl.obolibrary.org/obo/MONDO_0005235 smoldering myeloma|smoldering Multiple myeloma/plasma cell myeloma|smoldering multiple myeloma|smoldering plasma cell myeloma|asymptomatic myeloma|asymptomatic plasma cell myeloma MONDO:0020850 intellectual disability, autosomal recessive 65 biolink:Disease mondo OMIM:618109 http://identifiers.org/omim/618109 http://purl.obolibrary.org/obo/MONDO_0020850 MRT65|mental retardation, autosomal recessive 65; MRT65|intellectual disability, autosomal recessive 65; MRT65 MONDO:0007895 platyspondylic dysplasia, Torrance type biolink:Disease mondo OMIM:151210|MESH:C563627|ICD10:Q77.8|GARD:0004382|Orphanet:85166|UMLS:C1835437 UMLS:C1835437|ORPHA:85166|http://identifiers.org/omim/151210|MESH:C563627 http://purl.obolibrary.org/obo/MONDO_0007895 thanatophoric dysplasia, Torrance variant|thanatophoric dysplasia, Luton variant|Platyspondylic lethal skeletal dysplasia, Torrance type; PLSDT|PLSD-T|Platyspondylic lethal skeletal dysplasia, Luton type|PLSDT|Platyspondylic lethal skeletal dysplasia Torrance type|lethal short-limbed Platyspondylic dwarfism Torrance type|Platyspondylic dysplasia, Torrance-Luton type|Platyspondylic lethal skeletal dysplasia, Torrance type|thanatophoric dysplasia Torrance variant|lethal short-limbed Platyspondylic dwarfism, Torrance type ordo_malformation_syndrome MONDO:0005234 obsolete polymyositis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005234 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism biolink:Disease mondo OMIM:151050|MESH:C537115|ICD10:Q87.1|Orphanet:2658|GARD:0003223 Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. MESH:C537115|ORPHA:2658|UMLS:C0432269|http://identifiers.org/omim/151050 http://purl.obolibrary.org/obo/MONDO_0007892 Lenz-Majewski hyperostotic dwarfism; LMHD|Lenz-Majewski syndrome|hyperostotic dwarfism Lenz-Majewski type|multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis|LMHD|Lenz-Majewski hyperostotic dwarfism|multiple congenital anomalies, mental retardation and progressive skeletal sclerosis|Lenz-Majewski hyperostotic dysplasia|Lenz Majewski hyperostotic dwarfism ordo_malformation_syndrome|gard_rare FOODON:00001184 algal food product biolink:OntologyClass mondo SUBSET_SIREN:F10419 This food product type includes food products which are derived from a large, diverse group of photosynthetic organisms. http://purl.obolibrary.org/obo/FOODON_00001184 "subset_siren" MONDO:0007893 Noonan syndrome with multiple lentigines biolink:Disease mondo ICD10:Q87.1|MESH:D044542|UMLS:CN074218|OMIMPS:151100|GARD:0001100|Orphanet:500|UMLS:C0175704|MedDRA:10062901|NCIT:C84820|DOID:14291|ICD9:709.09|SCTID:111306001 Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. NCIT:C84820|MESH:D044542|UMLS:CN074218|MESH:C537116|SNOMEDCT:111306001|UMLS:C0175704|DOID:14291|ORPHA:500|MEDDRA:10062901|UMLS:C2931424 http://purl.obolibrary.org/obo/MONDO_0007893 progressive cardiomyopathic lentiginosis|generalized lentiginosis|lentiginosis profusa syndrome|Gorlin syndrome II|Moynahan syndrome|LEOPARD syndrome|lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness|Cardiomyopathic lentiginosis|cardiocutaneous syndrome|familial multiple lentigines syndrome|lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes|Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome clingen|ordo_malformation_syndrome MONDO:0005231 hepatitis C virus infection biolink:Disease mondo MESH:D006526|ICD10:B19.2|SCTID:128302006|NCIT:C3098|EFO:0003047|ICD9:070.7|UMLS:C0019196|DOID:1883|ICD10:B19.20|ICD9:070.54|ICD9:070.41 A viral infection caused by the hepatitis C virus. DOID:1883|NCIT:C3098|UMLS:C0019196|SNOMEDCT:128302006|MESH:D006526 http://purl.obolibrary.org/obo/MONDO_0005231 hepatitis type C|NANBH|Hepatitis C virus hepatitis|chronic hepatitis C|non-A, non-B Hepatitis|hepatitis Nona nonB|viral hepatitis C|hepatitis C infection|Hepatitis C virus caused hepatitis MONDO:0007890 lentiginosis, centrofacial neurodysraphic biolink:Disease mondo OMIM:151000|MESH:C563630|UMLS:C1835484 http://identifiers.org/omim/151000|MESH:C563630|UMLS:C1835484 http://purl.obolibrary.org/obo/MONDO_0007890 lentiginosis, centrofacial neurodysraphic|lentiginosis, Touraine type MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity biolink:Disease mondo OMIM:618572 http://identifiers.org/omim/618572 http://purl.obolibrary.org/obo/MONDO_0032818 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS MONDO:0005230 cellulitis (disease) biolink:Disease mondo ICD10:L03.90|DOID:3488|MESH:D002481|Wikipedia:Cellulitis|SCTID:128045006|HP:0100658|COHD:435613|EFO:0003035|NCIT:C26715|ICD9:682.9|ICD9:682.8 Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. NCIT:C26715|MESH:D002481|SNOMEDCT:128045006|DOID:3488 http://purl.obolibrary.org/obo/MONDO_0005230 cellulitis MONDO:0007891 familial generalized lentiginosis biolink:Disease mondo ICD10:L81.4|UMLS:CN201466|UMLS:C3492944|MESH:C573023|Orphanet:231040|OMIM:151001|SCTID:765195000 Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. ORPHA:231040|UMLS:CN201466|http://identifiers.org/omim/151001|SNOMEDCT:765195000|UMLS:C3492944|MESH:C573023 http://purl.obolibrary.org/obo/MONDO_0007891 lentiginosis, inherited patterned|lentiginosis, generalized|lentiginosis, diffuse|familial lentigines profusa|familial multiple lentigines syndrome without systemic involvement|lentiginosis profusa ordo_disease MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 biolink:Disease mondo OMIM:618573 http://identifiers.org/omim/618573 http://purl.obolibrary.org/obo/MONDO_0032819 Thyrotropin-Releasing Hormone Resistance, Generalized|HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7 MONDO:0020849 immunodeficiency 57 biolink:Disease mondo OMIM:618108 http://identifiers.org/omim/618108 http://purl.obolibrary.org/obo/MONDO_0020849 IMD57|IMMUNODEFICIENCY 57; IMD57 MONDO:0017208 obsolete intermediate uveitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017208 MONDO:0020848 osteopetrosis, autosomal dominant 3 biolink:Disease mondo OMIM:618107 http://identifiers.org/omim/618107 http://purl.obolibrary.org/obo/MONDO_0020848 OSTEOPETROSIS, autosomal dominant 3; OPTA3|OPTA3 MONDO:0017209 infectious posterior uveitis biolink:Disease mondo Orphanet:279919|ICD10:H20.0 ORPHA:279919 http://purl.obolibrary.org/obo/MONDO_0017209 ordo_disease MONDO:0020847 mental retardation, autosomal dominant 58 biolink:Disease mondo OMIM:618106 http://identifiers.org/omim/618106 http://purl.obolibrary.org/obo/MONDO_0020847 MRD58|MENTAL RETARDATION, autosomal dominant 58; MRD58 MONDO:0020846 mental retardation, autosomal recessive 64 biolink:Disease mondo OMIM:618103 http://identifiers.org/omim/618103 http://purl.obolibrary.org/obo/MONDO_0020846 MRT64|MENTAL RETARDATION, autosomal recessive 64; MRT64 MONDO:0019867 mosaic trisomy 8 biolink:Disease mondo ICD10:Q92.1|Orphanet:96061|MedDRA:10053916|SCTID:717335009|MESH:C537940|GARD:0005359 Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. MEDDRA:10053916|SNOMEDCT:717335009|MESH:C537940|ORPHA:96061|UMLS:C1096527 http://purl.obolibrary.org/obo/MONDO_0019867 trisomy 8 mosaicism|Mosaic trisomy chromosome 8|Mosaic trisomy type 8|Warkany syndrome ordo_malformation_syndrome|gard_rare MONDO:0017204 toxic maculopathy due to antimalarial drugs biolink:Disease mondo ICD10:H35.3|Orphanet:279894|ICD10:T37.2|SCTID:763621004|UMLS:CN202676 Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss. ORPHA:279894|SNOMEDCT:763621004|UMLS:CN202676 http://purl.obolibrary.org/obo/MONDO_0017204 ordo_disease MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 biolink:Disease mondo OMIM:618098 http://identifiers.org/omim/618098 http://purl.obolibrary.org/obo/MONDO_0020845 PEOB5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5; PEOB5|progressive external ophthalmoplegia, autosomal recessive 5 MONDO:0019866 mosaic trisomy 5 biolink:Disease mondo ICD10:Q92.1|MESH:C537762|Orphanet:96060|SCTID:764629008 Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. SNOMEDCT:764629008|MESH:C537762|ORPHA:96060 http://purl.obolibrary.org/obo/MONDO_0019866 Mosaic trisomy type 5|trisomy 5 mosaicism|Mosaic trisomy chromosome 5 ordo_malformation_syndrome MONDO:0017205 primary oculocerebral lymphoma biolink:Disease mondo Orphanet:279897 Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits. ORPHA:279897 http://purl.obolibrary.org/obo/MONDO_0017205 primary oculocerebral non-Hodgkin lymphoma ordo_disease MONDO:0019869 mosaic trisomy 22 biolink:Disease mondo SCTID:764625002|Orphanet:96068|GARD:0006085|ICD10:Q92.1|MESH:C536796 Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described. MESH:C536796|UMLS:C2931327|UMLS:C2931326|SNOMEDCT:764625002|ORPHA:96068 http://purl.obolibrary.org/obo/MONDO_0019869 trisomy 22 mosaicism|Mosaic trisomy chromosome 22|Mosaic trisomy type 22 ordo_malformation_syndrome|gard_rare MONDO:0020843 pseudomembranous diphtheritic conjunctivitis biolink:Disease mondo NCIT:C34543|UMLS:C0012554|ICD9:032.81|SCTID:7773002 Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae. NCIT:C34543|SNOMEDCT:7773002|UMLS:C0012554 http://purl.obolibrary.org/obo/MONDO_0020843 pseudomembranous diphtheritic conjunctivitis|pseudomembranous diphtheritic conjunctivitis|Conjunctival diphtheria|Pseudomembranous Diphtheritic Conjunctivitis|Pseudomembranous diphtheritic conjunctivitis|conjunctival diphtheria MONDO:0017206 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017206 MONDO:0017207 primary organ-specific lymphoma biolink:Disease mondo NCIT:C7185|UMLS:C1334465|Orphanet:279911 NCIT:C7185|ORPHA:279911|UMLS:C1334465 http://purl.obolibrary.org/obo/MONDO_0017207 ordo_group_of_disorders MONDO:0019868 mosaic trisomy 10 biolink:Disease mondo SCTID:764461004|ICD10:Q92.1|Orphanet:96063|UMLS:CN035866|GARD:0005406|MESH:C538292 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. UMLS:CN035866|MESH:C538292|SNOMEDCT:764461004|ORPHA:96063 http://purl.obolibrary.org/obo/MONDO_0019868 mosaic trisomy 10|Mosaic trisomy type 10|trisomy 10 mosaicism|chromosome 10, uniparental disomy|Mosaic trisomy chromosome 10|uniparental disomy of 10 gard_rare|ordo_malformation_syndrome MONDO:0020842 obsolete medullary carcinoma biolink:Disease mondo NCIT:C8998 Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ. NCIT:C8998 http://purl.obolibrary.org/obo/MONDO_0020842 MONDO:0019863 obsolete acro-renal-ocular syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019863 MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome biolink:Disease mondo UMLS:C2931462|MESH:C537271|GARD:0002365|Orphanet:2795 Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries. UMLS:C2931462|ORPHA:2795|MESH:C537271 http://purl.obolibrary.org/obo/MONDO_0017200 voiding dysfunction and polycystic ovaries|fowler Christmas Chapple syndrome|fowler-Christmas-Chapple syndrome|fowler's syndrome|polycystic ovaries urethral sphincter dysfunction ordo_disease MONDO:0019862 levocardia biolink:Disease mondo NCIT:C111647|MedDRA:10071015|GARD:0012032|MESH:D007979|UMLS:C0023569|Orphanet:95854|ICD10:Q24.1|SCTID:205769006 A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation. MESH:D007979|ORPHA:95854|MEDDRA:10071015|SNOMEDCT:205769006|NCIT:C111647|UMLS:C0023569 http://purl.obolibrary.org/obo/MONDO_0019862 Isolated levocardia with situs inversus|levocardia-situs inversus|Situs inversus with levocardia ordo_morphological_anomaly|gard_rare MONDO:0017201 Spasmus nutans (disease) biolink:Disease mondo Orphanet:279882|SCTID:400948003|UMLS:C1527306|ICD10:F98.4|HP:0010533|MedDRA:10059593 Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis. SNOMEDCT:400948003|UMLS:C1527306|MEDDRA:10059593|ORPHA:279882 http://purl.obolibrary.org/obo/MONDO_0017201 Spasmus nutans ordo_clinical_syndrome MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies biolink:Disease mondo OMIM:618577 http://identifiers.org/omim/618577 http://purl.obolibrary.org/obo/MONDO_0032820 NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF MONDO:0017202 acute endophthalmitis biolink:Disease mondo ICD10:H44.1|DOID:11752|UMLS:C0154773|MedDRA:10000730|SCTID:1493002|ICD9:360.01|Orphanet:279888|ICD10:H44.0|COHD:433765 Acute form of endophthalmitis. ORPHA:279888|UMLS:C0154773|DOID:11752|MEDDRA:10000730|SNOMEDCT:1493002 http://purl.obolibrary.org/obo/MONDO_0017202 endophthalmitis, acute ordo_clinical_subtype MONDO:0019865 mosaic trisomy 4 biolink:Disease mondo SCTID:764628000|ICD10:Q92.1|Orphanet:96059 Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. SNOMEDCT:764628000|ORPHA:96059 http://purl.obolibrary.org/obo/MONDO_0019865 Mosaic trisomy chromosome 4|Mosaic trisomy type 4|trisomy 4 mosaicism ordo_malformation_syndrome MONDO:0017203 chronic endophthalmitis biolink:Disease mondo SCTID:13978000|ICD10:H44.1|DOID:10697|UMLS:C0154774|Orphanet:279891|ICD9:360.03|COHD:443867|MedDRA:10008864|ICD10:H44.0 Chronic form of endophthalmitis. SNOMEDCT:13978000|ORPHA:279891|UMLS:C0154774|DOID:10697|MEDDRA:10008864 http://purl.obolibrary.org/obo/MONDO_0017203 endophthalmitis, chronic ordo_clinical_subtype MONDO:0019864 tetrasomy 21 biolink:Disease mondo Orphanet:96055|SCTID:764690001|GARD:0012480|ICD10:Q99.8 Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21. SNOMEDCT:764690001|ORPHA:96055 http://purl.obolibrary.org/obo/MONDO_0019864 tetrasomy type 21|Isochromosome 21 gard_rare|ordo_malformation_syndrome MONDO:0019861 thyroid hypoplasia biolink:Disease mondo Orphanet:95720|MedDRA:10065938|ICD10:E03.1 Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. ORPHA:95720|UMLS:C0151516|MEDDRA:10065938 http://purl.obolibrary.org/obo/MONDO_0019861 ordo_morphological_anomaly MONDO:0019860 thyroid hemiagenesis biolink:Disease mondo Orphanet:95719|SCTID:715734006|ICD10:E03.1|UMLS:C4023190 Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. ORPHA:95719|UMLS:C4023190|SNOMEDCT:715734006 http://purl.obolibrary.org/obo/MONDO_0019860 ordo_morphological_anomaly GO:0044381 glucose import in response to insulin stimulus biolink:OntologyClass mondo The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. http://purl.obolibrary.org/obo/GO_0044381 cellular glucose import in response to insulin stimulus UBERON:0004417 proximal epiphysis of phalanx of manual digit 1 biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a manual digit 1 phalanx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004417 proximal epiphysis of phalanx of manual digit 1|proximal epiphysis of phalanx of thumb|basal epiphysis of phalanx of thumb|proximal epiphysis of phalanx of manual digit I|base of phalanx of thumb|base of phalanx of first digit of hand UBERON:0016405 pulmonary capillary biolink:AnatomicalEntity mondo A capillary that is part of a lung. http://purl.obolibrary.org/obo/UBERON_0016405 capillary of lung UBERON:0016400 infrapatellar fat pad biolink:AnatomicalEntity mondo The infrapatellar fat pad, also known as Hoffa's fat pad, is a cylindrical piece of fat that is situated under and behind the patella bone within the knee. http://purl.obolibrary.org/obo/UBERON_0016400 UBERON:0016402 mesocolic lymph node biolink:AnatomicalEntity mondo A lymph node that located_in a colon. http://purl.obolibrary.org/obo/UBERON_0016402 pericolic lymph node|colic lymph node|mesocolic lymph node|colic node|pericolonic lymph node PATO:0002143 sloped downward biolink:OntologyClass mondo http://purl.obolibrary.org/obo/PATO_0002143 UBERON:0004426 proximal epiphysis of fifth metacarpal bone biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a metacarpal bone of digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004426 base of fifth metacarpal bone|fifth metacarpal bone base|proximal end of fifth metacarpal bone|proximal epiphysis of metacarpal 5 UBERON:0004427 proximal epiphysis of first metatarsal bone biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004427 proximal end of first metatarsal bone|base of first metatarsal bone|proximal epiphysis of metatarsal 1 UBERON:0004422 proximal epiphysis of first metacarpal bone biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004422 base of first metacarpal bone|proximal epiphysis of metacarpal 1|first metacarpal bone base UBERON:0004421 proximal epiphysis of phalanx of manual digit 5 biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a manual digit 5 phalanx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004421 base of phalanx of fifth digit of hand|basal epiphysis of phalanx of little finger|proximal epiphysis of phalanx of little finger|basal epiphysis of phalanx of fifth finger|proximal epiphysis of phalanx of manual digit V|base of phalanx of little finger|proximal epiphysis of phalanx of manual digit 5|base of phalanx of fifth finger GO:0007409 axonogenesis biolink:OntologyClass mondo De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. http://purl.obolibrary.org/obo/GO_0007409 axon growth|axon morphogenesis|neuron long process generation UBERON:0004408 distal epiphysis of ulna biolink:AnatomicalEntity mondo A distal epiphysis that is part of a ulna [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004408 lower end of ulna|distal end of ulna UBERON:0004409 distal epiphysis of phalanx of manus biolink:AnatomicalEntity mondo A distal epiphysis that is part of a phalanx of manus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004409 head of phalanx of finger|ungual tuberosity of distal phalanx of finger|distal epiphysis of phalanx of hand|distal epiphysis of phalanx of finger|distal end of phalanx of hand|head of phalanx of hand UBERON:0004406 distal epiphysis of femur biolink:AnatomicalEntity mondo A distal epiphysis that is part of a femur [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004406 distal femoral epiphysis|distal head of femur UBERON:0004407 distal epiphysis of radius biolink:AnatomicalEntity mondo A distal epiphysis that is part of a radius [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004407 distal end of radius|lower end of radius UBERON:0004415 proximal epiphysis of metatarsal bone biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a metatarsal bone [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004415 proximal end of metatarsal bone|upper end of metatarsal bone|basis ossis metatarsi|base of metatarsal bone HGNC:2843 DGAT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2843 UBERON:0004416 proximal epiphysis of metacarpal bone biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a metacarpal bone [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004416 proximal end of metacarpal bone|metacarpal bone base|upper end of metacarpal bone|basis ossis metacarpi|base of metacarpal bone UBERON:0004413 proximal epiphysis of radius biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a radius [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004413 upper end of radius|proximal end of radius|proximal radial epiphysis UBERON:0004414 proximal epiphysis of phalanx of manus biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a phalanx of manus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004414 basal epiphysis of phalanx of finger|basis phalangis manus|base of phalanx of finger|proximal epiphysis of phalanx of hand|proximal epiphysis of phalanx of finger UBERON:0004411 proximal epiphysis of humerus biolink:AnatomicalEntity mondo The upper extremity of the humerus (proximal humerus) consists of a large rounded head joined to the body by a constricted portion called the neck, and two eminences, the greater and lesser tubercles. http://purl.obolibrary.org/obo/UBERON_0004411 upper extremity of humerus|upper end of humerus|humeral head|proximal humerus|head of the humerus|proximal end of humerus|proximal humeral epiphysis UBERON:0004412 proximal epiphysis of femur biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a femur [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004412 proximal femoral epiphysis|capital femoral epiphysis UBERON:0004410 distal epiphysis of fibula biolink:AnatomicalEntity mondo A distal epiphysis that is part of a fibula [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004410 distal end of fibula|lower end of fibula HGNC:2847 DGCR8 biolink:OntologyClass mondo http://identifiers.org/hgnc/2847 HGNC:2846 DGCR6 biolink:OntologyClass mondo http://identifiers.org/hgnc/2846 HGNC:2845 DGCR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2845 HGNC:2844 DGCR biolink:OntologyClass mondo http://identifiers.org/hgnc/2844 NCBITaxon:42068 Pneumocystis jirovecii organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42068 Pneumocystis jiroveci CHEBI:33693 oxygen hydride biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33693 hydrides of oxygen|oxygen hydride|oxygen hydrides CHEBI:33694 biomacromolecule biolink:ChemicalSubstance mondo A macromolecule formed by a living organism. http://purl.obolibrary.org/obo/CHEBI_33694 Biopolymere|biopolymers|biopolymer|biomacromolecules CHEBI:33695 information biomacromolecule biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33695 information macromolecule|genetically encoded biopolymers|information biopolymers|genetically encoded biomacromolecules|information macromolecules|information biomacromolecules NCBITaxon:1511900 Primate erythroparvovirus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1511900 UBERON:0004404 distal epiphysis of humerus biolink:AnatomicalEntity mondo A distal epiphysis that is part of a humerus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004404 lower end of humerus|distal end of humerus UBERON:0004405 distal epiphysis of tibia biolink:AnatomicalEntity mondo A distal epiphysis that is part of a tibia [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004405 lower end of tibia|distal end of tibia HGNC:2852 DGKE biolink:OntologyClass mondo http://identifiers.org/hgnc/2852 UBERON:0004402 bone tissue of proximal epiphysis biolink:AnatomicalEntity mondo A portion of bone tissue that is part of a proximal epiphysis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004402 UBERON:0004403 periosteum of epiphysis biolink:AnatomicalEntity mondo A periosteum that is part of a epiphysis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004403 epiphysis periosteum UBERON:0004400 bone tissue of epiphysis biolink:AnatomicalEntity mondo A portion of bone tissue that is part of a epiphysis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004400 UBERON:0004401 bone tissue of distal epiphysis biolink:AnatomicalEntity mondo A portion of bone tissue that is part of a distal epiphysis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004401 CHEBI:33692 hydrides biolink:ChemicalSubstance mondo Hydrides are chemical compounds of hydrogen with other chemical elements. http://purl.obolibrary.org/obo/CHEBI_33692 HGNC:2859 DHCR24 biolink:OntologyClass mondo http://identifiers.org/hgnc/2859 HGNC:2858 DGUOK biolink:OntologyClass mondo http://identifiers.org/hgnc/2858 HGNC:2865 DHH biolink:OntologyClass mondo http://identifiers.org/hgnc/2865 HGNC:2861 DHFR biolink:OntologyClass mondo http://identifiers.org/hgnc/2861 HGNC:2860 DHCR7 biolink:OntologyClass mondo http://identifiers.org/hgnc/2860 MONDO:0007827 inclusion body myositis biolink:Disease mondo DOID:3429|ICD9:359.71|NCIT:C84786|Orphanet:611|MESH:D018979|ICD10:G72.41|ICD9:729.1|COHD:4216406|SCTID:72315009|OMIM:147421|MedDRA:10066407|EFO:0007323|ICD10:M60.8|UMLS:C0238190|GARD:0003896 Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features. NCIT:C84786|UMLS:C0238190|MEDDRA:10066407|SNOMEDCT:72315009|ORPHA:611|DOID:3429|http://identifiers.org/omim/147421|MESH:D018979 http://purl.obolibrary.org/obo/MONDO_0007827 distal myopathy, Nonaka type|inclusion body myopathy 3|IBM2|inclusion body myopathy 2|distal myopathy with rimmed vacuoles (DMRV)|HIBM|IBM|IBM-3|sIBM|distal myopathy with rimmed vacuoles|inflammatory myopathy|Nonaka myopathy|sporadic inclusion body myositis|Ibm|inclusion body myositis|hereditary inclusion body myopathy ordo_disease MONDO:0007828 indifference to pain, congenital, autosomal dominant biolink:Disease mondo MESH:C564128|OMIM:147430|UMLS:C1840219 MESH:C564128|http://identifiers.org/omim/147430|UMLS:C1840219 http://purl.obolibrary.org/obo/MONDO_0007828 congenital analgesia, autosomal dominant|Marsili syndrome|MARSILI syndrome; MARSIS|insensitivity to pain, congenital, autosomal dominant|MARSIS|indifference to pain, congenital, autosomal dominant MONDO:0007825 incisors, rotation of upper central biolink:Disease mondo OMIM:147350 http://identifiers.org/omim/147350 http://purl.obolibrary.org/obo/MONDO_0007825 incisors, rotation of upper central OBO:cl#has_not_completed has_not_completed biolink:OntologyClass mondo http://purl.obolibrary.org/obo/cl#has_not_completed MONDO:0007826 incisors, shovel-shaped biolink:Disease mondo OMIM:147400 http://identifiers.org/omim/147400 http://purl.obolibrary.org/obo/MONDO_0007826 Sinodonty|incisors, shovel-shaped MONDO:0007823 insulin receptors, familial increase 1N biolink:Disease mondo OMIM:147320 http://identifiers.org/omim/147320 http://purl.obolibrary.org/obo/MONDO_0007823 insulin receptors, familial increase type 1N|insulin receptors, familial increase IN MONDO:0007824 incisors, lower central, absence of biolink:Disease mondo OMIM:147330 http://identifiers.org/omim/147330 http://purl.obolibrary.org/obo/MONDO_0007824 incisors, lower central, absence of MONDO:0007821 immunoglobulin switch sequences biolink:Disease mondo UMLS:C1840234|OMIM:147260 http://identifiers.org/omim/147260|UMLS:C1840234 http://purl.obolibrary.org/obo/MONDO_0007821 Immunoglobulin-independent switch Sequences|S Sequences|immunoglobulin switch sequences HGNC:2867 DHODH biolink:OntologyClass mondo http://identifiers.org/hgnc/2867 MONDO:0007822 incisors, long upper central biolink:Disease mondo OMIM:147300 http://identifiers.org/omim/147300 http://purl.obolibrary.org/obo/MONDO_0007822 incisors, long upper central CHEBI:33679 helium molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33679 helium molecular entity|helium molecular entities|helium compounds MONDO:0007820 fused mandibular incisors biolink:Disease mondo ICD10:K00.2|OMIM:147251|UMLS:CN201433|SCTID:707796002|Orphanet:2287|GARD:0002419 Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure. ORPHA:2287|UMLS:CN201433|SNOMEDCT:707796002|http://identifiers.org/omim/147251|UMLS:C2931081|MESH:C535997 http://purl.obolibrary.org/obo/MONDO_0007820 'Double Tooth'|incisors, FUSED mandibular|Double tooth ordo_morphological_anomaly|gard_rare UBERON:0016447 hair of trunk biolink:AnatomicalEntity mondo A strand of hair that is part of a trunk. http://purl.obolibrary.org/obo/UBERON_0016447 trunk hair MONDO:0019809 congenital aortic valve insufficiency biolink:Disease mondo UMLS:C0158617|ICD9:746.4|Orphanet:95449|ICD10:Q23.1|COHD:321107|MedDRA:10010370|SCTID:28656008|NCIT:C103936 Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. MEDDRA:10010370|UMLS:C0158617|NCIT:C103936|SNOMEDCT:28656008|ORPHA:95449 http://purl.obolibrary.org/obo/MONDO_0019809 Congential aortic valve insufficiency|congenital insufficiency of aortic valve|congenital aortic insufficiency ordo_disease MONDO:0019808 aortic valve atresia (disease) biolink:Disease mondo MedDRA:10066801|SCTID:51442005|Orphanet:95448|ICD10:Q23.0|NCIT:C98818|HP:0010883 A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure. NCIT:C98818|MEDDRA:10066801|SNOMEDCT:51442005|ORPHA:95448 http://purl.obolibrary.org/obo/MONDO_0019808 aortic valve atresia|congenital atresia of aortic valve|congenital aortic valve atresia ordo_clinical_subtype UBERON:0016446 hair of head biolink:AnatomicalEntity mondo A strand of hair that is part of a head. http://purl.obolibrary.org/obo/UBERON_0016446 hair of scalp|head hair UBERON:0004462 musculature of body wall biolink:AnatomicalEntity mondo Any collection of muscles that is part of a body wall [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004462 body wall musculature|body wall muscles MONDO:0019816 anomaly of the tricuspid subvalvular apparatus biolink:Disease mondo Orphanet:95463|ICD10:Q22.8 ORPHA:95463 http://purl.obolibrary.org/obo/MONDO_0019816 ordo_group_of_disorders CHEBI:33671 heteropolycyclic compound biolink:ChemicalSubstance mondo A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compounds|polyheterocyclic compounds MONDO:0019815 accessory tricuspid valve tissue biolink:Disease mondo Orphanet:95462|ICD10:Q22.8 Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly. ORPHA:95462 http://purl.obolibrary.org/obo/MONDO_0019815 ordo_morphological_anomaly CHEBI:33672 heterobicyclic compound biolink:ChemicalSubstance mondo A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compounds UBERON:0004463 musculature of hindlimb stylopod biolink:AnatomicalEntity mondo Any collection of muscles that is part of a hindlimb stylopod (upper leg / thigh)[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004463 muscle group of thigh|thigh musculature|musculature of thigh|set of muscles of thigh CHEBI:33673 zinc group molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33673 zinc group molecular entities MONDO:0019818 cleft mitral valve biolink:Disease mondo ICD10:Q23.3|Orphanet:95465 ORPHA:95465 http://purl.obolibrary.org/obo/MONDO_0019818 ordo_morphological_anomaly CHEBI:33674 s-block molecular entity biolink:ChemicalSubstance mondo An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity|s-block molecular entities|s-block compounds MONDO:0019817 congenital mitral valve insufficiency and/or stenosis biolink:Disease mondo ICD10:Q23.3|ICD10:Q23.2|Orphanet:95464|ICD10:Q23 ORPHA:95464 http://purl.obolibrary.org/obo/MONDO_0019817 ordo_group_of_disorders UBERON:0004461 skeletal musculature of head biolink:AnatomicalEntity mondo Any collection of skeletal muscles that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004461 muscles of head|muscle group of head|head musculature|musculi capitis|set of muscles of head CHEBI:33675 p-block molecular entity biolink:ChemicalSubstance mondo A main group molecular entity that contains one or more atoms of a p-block element. http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entities|p-block compounds|p-block molecular entitiy MONDO:0019812 obsolete tricuspid valve prolapse biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019812 CHEBI:33676 d-block molecular entity biolink:ChemicalSubstance mondo A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity|d-block molecular entities|d-block compounds PATO:0002103 infiltrative biolink:OntologyClass mondo A structural quality inhering in a bearer by virtue of the bearer's penetrating or permeating another substance or area. http://purl.obolibrary.org/obo/PATO_0002103 infiltrating MONDO:0019811 tricuspid valve agenesis biolink:Disease mondo ICD10:Q22.4|Orphanet:95457 ORPHA:95457 http://purl.obolibrary.org/obo/MONDO_0019811 congenital unguarded tricuspid orifice ordo_morphological_anomaly MONDO:0019814 straddling or overriding tricuspid valve biolink:Disease mondo ICD10:Q22.8|Orphanet:95461 Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation. ORPHA:95461 http://purl.obolibrary.org/obo/MONDO_0019814 ordo_morphological_anomaly MONDO:0019813 congenital tricuspid stenosis biolink:Disease mondo Orphanet:95459|ICD10:Q22.4|SCTID:36233006|MedDRA:10010656 MEDDRA:10010656|UMLS:C0265836|ORPHA:95459|SNOMEDCT:36233006 http://purl.obolibrary.org/obo/MONDO_0019813 ordo_morphological_anomaly HGNC:2876 DIAPH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2876 MONDO:0019810 toxic epidermal necrolysis biolink:Disease mondo MedDRA:10044223|UMLS:C0014518|EFO:0004775|Orphanet:95455|ICD9:695.15|SCTID:23067006|GARD:0007743|NCIT:C79777|ICD10:L51.2 Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes. UMLS:C0014518|ORPHA:95455|MEDDRA:10044223|MESH:D004816|NCIT:C79777|SNOMEDCT:23067006 http://purl.obolibrary.org/obo/MONDO_0019810 Lyell's syndrome|TEN|toxic epidermolysis|Lyell syndrome|Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum|SJS-TEN gard_rare|ordo_disease UBERON:0004468 set of muscles of vertebral column biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0004468 muscle group of vertebral column UBERON:0004469 musculature of back biolink:AnatomicalEntity mondo Any collection of muscles that is part of a back [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004469 muscle group of back|musculi dorsi|set of muscles of back|muscles of back HGNC:2873 CYB5R3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2873 UBERON:0004466 musculature of leg biolink:AnatomicalEntity mondo Any collection of muscles that is part of a lower leg or upper leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004466 leg muscle system MONDO:0007818 Hyper-IgE recurrent infection syndrome 1 biolink:Disease mondo Orphanet:2314|ICD10:D82.4|EFO:0003775|OMIM:147060|NCIT:C126342|GARD:0006800|DOID:3261|SCTID:50926003 A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. SNOMEDCT:50926003|ORPHA:2314|UMLS:C2936739|DOID:3261|http://identifiers.org/omim/147060|UMLS:C3489795|NCIT:C126342 http://purl.obolibrary.org/obo/MONDO_0007818 hyper Ig E syndrome, autosomal dominant|hyper-IgE syndrome, autosomal dominant|hyper-IgE recurrent infection syndrome, autosomal dominant|Job's syndrome|hyperimmunoglobulin E syndrome type 1|Buckley syndrome|autosomal dominant HIES|autosomal dominant hyperimmunoglobulin E syndrome|hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant|Job syndrome|HIES, autosomal dominant|STAT3 deficiency|AD hyperimmunoglobulin E syndrome|autosomal dominant hyper-IgE syndrome|autosomal dominant hyper IgE syndrome|AD-HIES|hyper-IgE recurrent infection syndrome|hyperimmunoglobulin E-recurrent infection syndrome|HIES autosomal dominant|Job syndrome autosomal dominant|hyperimmunoglobulin E syndrome gard_rare|ordo_disease UBERON:0004464 musculature of thorax biolink:AnatomicalEntity mondo Any collection of muscles that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004464 set of muscles of thorax|musculi thoracis|muscles of thorax|thoracic musculature|muscle group of thorax UBERON:0004465 musculature of neck biolink:AnatomicalEntity mondo Any collection of muscles that is part of a neck [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004465 musculi cervicis|set of muscles of neck|cervical muscles|muscles of neck|muscle group of neck|musculi colli|neck musculature MONDO:0007819 solitary median maxillary central incisor syndrome biolink:Disease mondo Orphanet:2286|ICD10:K00.2|SCTID:707609006|OMIM:147250|MESH:C537342|GARD:0004877 A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified. SNOMEDCT:707609006|ORPHA:2286|MESH:C537342|http://identifiers.org/omim/147250|UMLS:C1840235 http://purl.obolibrary.org/obo/MONDO_0007819 SMMCI|single central maxillary incisor|solitary MEDIAN maxillary central incisor|single upper central incisor|SMMCI syndrome|incisors, Fused|incisors fused|solitary median maxillary central incisor syndrome|Fused incisors|solitary MEDIAN maxillary central incisor; SMMCI ordo_clinical_subtype CHEBI:33670 heteromonocyclic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33670 heteromonocyclic compound|heteromonocyclic compounds MONDO:0007838 Jacobsen syndrome biolink:Disease mondo Orphanet:2308|OMIM:147791|GARD:0000307|ICD10:Q93.5|NCIT:C75457|SCTID:715438008|UMLS:C0795841 Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. ORPHA:2308|SNOMEDCT:715438008|UMLS:C0795841|NCIT:C75457|MESH:D054868|http://identifiers.org/omim/147791 http://purl.obolibrary.org/obo/MONDO_0007838 chromosome 11q deletion syndrome|telomeric deletion 11q|Del(11)(q23.3)|distal deletion 11q|Del(11)(qter)|partial 11q monosomy syndrome|distal monosomy 11q|11q terminal deletion disorder|JBS|Jacobsen syndrome|Jacobsen syndrome; JBS|monosomy 11qter ordo_malformation_syndrome MONDO:0007839 Aase-Smith syndrome biolink:Disease mondo GARD:0005642|ICD10:Q87.8|UMLS:C0220686|MedDRA:10063429|MESH:C535332|SCTID:718576001|OMIM:147800|Orphanet:916 Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. SNOMEDCT:718576001|MESH:C535332|MEDDRA:10063429|ORPHA:916|http://identifiers.org/omim/147800|UMLS:C0220686 http://purl.obolibrary.org/obo/MONDO_0007839 Aase-Smith I syndrome|Aase-Smith syndrome I|Aase-Smith syndrome|hydrocephalus-cleft palate-joint contractures syndrome|Aase-Smith syndrome 1|Aase-Smith syndrome type 1|Joint contractures with Other abnormalities ordo_malformation_syndrome MONDO:0007836 IVIC syndrome biolink:Disease mondo OMIM:147750|UMLS:C1327918|ICD10:Q71.8|GARD:0000269|Orphanet:2307|MESH:C535544|SCTID:722019000 IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. ORPHA:2307|UMLS:C1327918|MESH:C535544|http://identifiers.org/omim/147750|SNOMEDCT:722019000 http://purl.obolibrary.org/obo/MONDO_0007836 oculootoradial syndrome|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|OORS|oculo-oto-radial syndrome|Instituto venezolano de Investigaciones Cientificas syndrome|IVIC syndrome ordo_malformation_syndrome|gard_rare NCBITaxon:318477 Dracunculidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_318477 MONDO:0007837 Johnson neuroectodermal syndrome biolink:Disease mondo OMIM:147770|MESH:C535882|GARD:0000378|Orphanet:2316|ICD10:Q87.8|SCTID:721584005|UMLS:C0796002 Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. ORPHA:2316|SNOMEDCT:721584005|MESH:C535882|http://identifiers.org/omim/147770|UMLS:C0796002 http://purl.obolibrary.org/obo/MONDO_0007837 alopecia anosmia deafness hypogonadism syndrome|alopecia-anosmia-deafness-hypogonadism syndrome|Johnson neuroectodermal syndrome|Johnson-McMillin syndrome|alopecia-anosmia-conductive hearing loss-hypogonadism syndrome|Aadh syndrome gard_rare|ordo_malformation_syndrome MONDO:0007834 islet cell adenomatosis biolink:Disease mondo MESH:C563258|OMIM:147630|UMLS:C1578917|NCIT:C4375|SCTID:274944000 A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. SNOMEDCT:274944000|MESH:C563258|http://identifiers.org/omim/147630|UMLS:C1578917|NCIT:C4375 http://purl.obolibrary.org/obo/MONDO_0007834 Insulinomatosis and diabetes mellitus|INSDM|Nesidioblastosis|INSULINOMATOSIS and diabetes mellitus; INSDM|islet cell adenomatosis|Nesidioblastosis NCBITaxon:318479 Dracunculus medinensis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_318479 dracunculiasis worm|Guinea worm disease nematode|Guinea worm MONDO:0007835 intussusception biolink:Disease mondo MESH:D007443|UMLS:C0021933|DOID:8446|ICD9:560.0|ICD10:K56.1|SCTID:49723003|OMIM:147710 Telescoping or invagination of a part of the intestine into an adjacent segment. SNOMEDCT:49723003|MESH:D007443|NCIT:C113484|http://identifiers.org/omim/147710|DOID:8446|UMLS:C0021933 http://purl.obolibrary.org/obo/MONDO_0007835 intussusception (morphologic abnormality)|intussusception of intestine|invagination of intestine or colon|intussusception NCBITaxon:318478 Dracunculus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_318478 Dracunculus MONDO:0007832 interferon antiviral depressor biolink:Disease mondo OMIM:147560 http://identifiers.org/omim/147560 http://purl.obolibrary.org/obo/MONDO_0007832 interferon antiviral depressor MONDO:0007833 iris pigment layer, cleavage of biolink:Disease mondo OMIM:147610 http://identifiers.org/omim/147610 http://purl.obolibrary.org/obo/MONDO_0007833 iris pigment layer, cleavage of HGNC:2877 DIAPH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2877 MONDO:0007830 insensitivity to pain with hyperplastic Myelinopathy biolink:Disease mondo OMIM:147530 http://identifiers.org/omim/147530 http://purl.obolibrary.org/obo/MONDO_0007830 insensitivity to pain with hyperplastic Myelinopathy MONDO:0007831 insect Stings, hypersensitivity to biolink:Disease mondo OMIM:147540 http://identifiers.org/omim/147540 http://purl.obolibrary.org/obo/MONDO_0007831 insect Stings, hypersensitivity to UBERON:0016435 chest wall biolink:AnatomicalEntity mondo Subdivision of thorax which includes all structures from the skin to the costal pleura. Examples: There is only one chest wall. http://purl.obolibrary.org/obo/UBERON_0016435 MONDO:0019805 twin to twin transfusion syndrome biolink:Disease mondo NCIT:C113824|MedDRA:10058328|ICD10:O43.02|GARD:0000325|SCTID:13404009|EFO:1001221|Orphanet:95431|DOID:13576|ICD10:O43.0|UMLS:CN206761|ICD10:O43.029|MESH:D005330 Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated SNOMEDCT:13404009|MEDDRA:10058328|DOID:13576|ORPHA:95431|UMLS:CN206761|MESH:D005330|NCIT:C113824 http://purl.obolibrary.org/obo/MONDO_0019805 Feto-fetal transfusion syndrome|stuck Twin syndrome|fetal hemorrhage into co-twin|Twin to twin transfusion|Fetofetal transfusion syndrome|fetal blood loss from fetal hemorrhage into co-twin|Twin-to-twin blood transfer|placental transfusion syndrome|TTTS|fetal transfusion syndrome|Twin-Twin transfusion syndrome|twin-to-twin transfusion syndrome ordo_disease UBERON:0004451 trunk or cervical vertebra biolink:AnatomicalEntity mondo A vertebra in the trunk or cervical region. Includes all cervical, thoracic and lumbar vertebrae, but excludes caudal vertebra. http://purl.obolibrary.org/obo/UBERON_0004451 presacral vertebra MONDO:0019804 tracheomalacia biolink:Disease mondo SCTID:95467005|MedDRA:10010654|UMLS:C0948187|HP:0002779|ICD10:Q32.0|Orphanet:95430|DOID:0060313|ICD9:748.3|GARD:0010515|COHD:4316227|NCIT:C98634 Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months. UMLS:C0392109|MESH:C557675|UMLS:C0948187|MEDDRA:10010654|DOID:0060313|ORPHA:95430|NCIT:C98634|SNOMEDCT:95467005 http://purl.obolibrary.org/obo/MONDO_0019804 congenital tracheomalacia|type 1 tracheomalacia|congenital major airway collapse|tracheomalacia, congenital ordo_morphological_anomaly UBERON:0004452 carpal region biolink:AnatomicalEntity mondo A mesopodium that is part of a manus. Includes as parts the carpal skeleton and associated tissues[cjm]. The anatomical region surrounding the carpus including the distal parts of the bones of the forearm and the proximal parts of the metacarpus or five metacarpal bones and the series of joints between these bones, thus referred to as wrist joints. This region also includes the carpal tunnel, the anatomical snuff box, the flexor retinaculum, and the extensor retinaculum[WP,unvetted] http://purl.obolibrary.org/obo/UBERON_0004452 wrist|carpal limb segment|carpus of fore-paw|articulatio radiocarpea|carpal segment|manus mesopodium|regio carpalis|wrist region|carpus|fore basipodium|fore mesopodium|hand mesopodium MONDO:0019807 mesocardia (disease) biolink:Disease mondo ICD10:Q24.8|Orphanet:95443|HP:0011599|ICD9:746.87|SCTID:16567006 SNOMEDCT:16567006|UMLS:C0265865|ORPHA:95443 http://purl.obolibrary.org/obo/MONDO_0019807 mesocardia|Midline heart ordo_morphological_anomaly MONDO:0019806 primary progressive aphasia biolink:Disease mondo NCIT:C85024|MESH:D018888|EFO:0009053|UMLS:C0282513|ICD10:G31.0|Orphanet:95432|GARD:0008541 Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA). UMLS:C0282513|NCIT:C85024|ORPHA:95432|MESH:D018888 http://purl.obolibrary.org/obo/MONDO_0019806 primary progressive aphasia syndrome|Mesulam syndrome|PPA ordo_group_of_disorders MONDO:0019801 acute adrenal insufficiency biolink:Disease mondo NCIT:C112840|ICD10:E27.2|SCTID:24867002|ICD9:255.41|UMLS:C0151467|Orphanet:95409 Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. UMLS:C0151467|SNOMEDCT:24867002|ORPHA:95409|NCIT:C112840 http://purl.obolibrary.org/obo/MONDO_0019801 acute adrenal failure|adrenal crisis|acute adrenocortical insufficiency|adrenocortical crisis|Addisonian crisis ordo_clinical_syndrome GO:0140375 immune receptor activity biolink:OntologyClass mondo Receiving a signal and transmitting it in a cell to initiate an immune response. http://purl.obolibrary.org/obo/GO_0140375 MONDO:0019800 chronic hepatic porphyria biolink:Disease mondo ICD10:E80.2|Orphanet:95161 Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare). ORPHA:95161 http://purl.obolibrary.org/obo/MONDO_0019800 chronic acute hepatic porphyria|acute hepatic porphyria, chronic ordo_group_of_disorders MONDO:0019803 angioma serpiginosum biolink:Disease mondo UMLS:CN206759|NCIT:C3926|SCTID:49465005|DOID:4028|ICD10:L81.7|Orphanet:95429 Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko. NCIT:C3926|DOID:4028|ORPHA:95429|UMLS:CN206759|SNOMEDCT:49465005 http://purl.obolibrary.org/obo/MONDO_0019803 angioma serpiginosum of skin ordo_disease MONDO:0019802 secondary short bowel syndrome biolink:Disease mondo ICD10:K91.2|Orphanet:95427|UMLS:CN206757 Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. ORPHA:95427|UMLS:CN206757 http://purl.obolibrary.org/obo/MONDO_0019802 ordo_disease UBERON:0004455 neurula embryo biolink:AnatomicalEntity mondo An embryo at the neurula stage. http://purl.obolibrary.org/obo/UBERON_0004455 neurula UBERON:0004456 entire sense organ system biolink:AnatomicalEntity mondo Sum of all sensory systems in an organism. http://purl.obolibrary.org/obo/UBERON_0004456 sense organ system MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 biolink:Disease mondo DOID:0070228|UMLS:C3549845|OMIM:147480 DOID:0070228|http://identifiers.org/omim/147480|UMLS:C3549845 http://purl.obolibrary.org/obo/MONDO_0007829 cholestasis, pregnancy-related, 1|cholestasis, intrahepatic, of pregnancy, type 1|cholestasis, intrahepatic, of pregnancy, 1; ICP1|ICP1|cholestasis, intrahepatic, of pregnancy, 1 UBERON:0004453 metacarpus region biolink:AnatomicalEntity mondo A metapodium region that is part of a manus. http://purl.obolibrary.org/obo/UBERON_0004453 metacarpal part of hand|metacarpus|forelimb cannon region|metacarpal part of manus|metacarpal region|forelimb equine cannon region|distal segment of hand proper UBERON:0004454 tarsal region biolink:AnatomicalEntity mondo mesopodial segment of the pes, including the tarsal skeleton and associated tissues. http://purl.obolibrary.org/obo/UBERON_0004454 articulatio talocruralis|ankle region|tarsal limb segment|hock|ankle|hind basipodium|hind mesopodium MONDO:0007805 hypotrichosis 2 biolink:Disease mondo OMIM:146520|MESH:C564143|DOID:0110699 Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene. http://identifiers.org/omim/146520|MESH:C564143|DOID:0110699 http://purl.obolibrary.org/obo/MONDO_0007805 HYPT2|hypotrichosis type 2|CDSN hypotrichosis|hypotrichosis caused by mutation in CDSN|Spanish type hypotrichosis|hypotrichosis 2|Htss1|Htss|hypotrichosis simplex of the scalp 1|hypotrichosis 2; HYPT2|hypt2|hypotrichosis, Spanish type HGNC:20297 SLITRK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20297 MONDO:0007806 hypotrichosis 4 biolink:Disease mondo MESH:C567718|UMLS:C2750815|OMIM:146550|DOID:0110701 Any hypotrichosis in which the cause of the disease is a mutation in the HR gene. http://identifiers.org/omim/146550|UMLS:C2750815|MESH:C567718|DOID:0110701 http://purl.obolibrary.org/obo/MONDO_0007806 hypotrichosis type 4|hypotrichosis 4|Muhh1|HYPT4|hypotrichosis caused by mutation in HR|HR hypotrichosis|hypotrichosis, Marie Unna type, 1|Marie Unna hereditary hypotrichosis 1|hypotrichosis 4; HYPT4|hypt4 MONDO:0007803 multiple system atrophy biolink:Disease mondo EFO:1001050|UMLS:C0393571|OMIM:146500|MESH:D019578|UMLS:C0037019|GARD:0007079|ICD10:G90.3|Orphanet:102|DOID:4752|MedDRA:10064060|NCIT:C84909 Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. http://identifiers.org/omim/146500|UMLS:C0393571|NCIT:C84909|MEDDRA:10064060|UMLS:C0037019|ORPHA:102|DOID:4752|MESH:D019578 http://purl.obolibrary.org/obo/MONDO_0007803 Shy-dragger syndrome (formerly)|MSA|susceptibility to multiple system atrophy 1|Shy-Drager syndrome|hypotension, orthostatic|autonomic failure, Pure|multisystem atrophy ordo_disease MONDO:0007804 Pallister-hall syndrome biolink:Disease mondo ICD9:759.89|MESH:D054975|UMLS:C0265220|SCTID:56677004|OMIM:146510|Orphanet:672|ICD10:D33.0|NCIT:C84987|GARD:0007305|DOID:9248 Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. DOID:9248|http://identifiers.org/omim/146510|SNOMEDCT:56677004|NCIT:C84987|UMLS:C0265220|ORPHA:672|MESH:D054975 http://purl.obolibrary.org/obo/MONDO_0007804 PHS|ano-cerebro-digital syndrome|hypothalamic hamartoblastoma syndrome|Pallister-Hall syndrome|hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly|Pallister-Hall syndrome; PHS|Pallister Hall syndrome ordo_malformation_syndrome|gard_rare MONDO:0007801 obsolete hypoplasia of teeth roots biolink:Disease mondo OMIM:146400|MESH:C564144 MESH:C564144|http://identifiers.org/omim/146400 http://purl.obolibrary.org/obo/MONDO_0007801 hypoplasia of teeth roots MONDO:0007802 hypospadias 3, autosomal biolink:Disease mondo UMLS:C2675154|MESH:C567191|OMIM:146450 MESH:C567191|UMLS:C2675154|http://identifiers.org/omim/146450 http://purl.obolibrary.org/obo/MONDO_0007802 hypospadias 3, autosomal|hypospadias 3, autosomal; HYSP3|HYSP3 HGNC:2889 DISC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2889 UBERON:0004439 proximal epiphysis of middle phalanx of manual digit 5 biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a middle phalanx of manual digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004439 proximal epiphysis of middle phalanx of little finger|base of middle phalanx of little finger|base of middle phalanx of fifth finger|proximal epiphysis of middle phalanx of manual digit V|base of middle phalanx of fifth digit of hand|basal epiphysis of middle phalanx of little finger|basal epiphysis of middle phalanx of fifth finger MONDO:0007800 chromosome 18p deletion syndrome biolink:Disease mondo SCTID:270890001|OMIM:146390|DOID:0060406|NCIT:C84521|GARD:0008631|ICD10:Q93.5|UMLS:C0432442|ICD9:758.39|MESH:C538309|Orphanet:1598 Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. NCIT:C84521|SNOMEDCT:270890001|MESH:C538309|ORPHA:1598|UMLS:C0432442|http://identifiers.org/omim/146390|DOID:0060406 http://purl.obolibrary.org/obo/MONDO_0007800 chromosome 18p deletion syndrome|18p-|18p- syndrome|De Grouchy syndrome|deletion 18p syndrome|chromosome 18p deletion|18P syndrome|18P- syndrome|monosomy type 18p|monosomy 18p ordo_disease HGNC:2888 DISC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2888 UBERON:0016426 proximal interphalangeal joint of little finger biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0016426 CHEBI:33658 arene biolink:ChemicalSubstance mondo Any monocyclic or polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/CHEBI_33658 aromatic hydrocarbons|arene|arenes PATO:0002129 neoplastic, invasive biolink:OntologyClass mondo A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues. http://purl.obolibrary.org/obo/PATO_0002129 CHEBI:33659 organic aromatic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compounds HGNC:2890 DKC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2890 PATO:0002124 laminar biolink:OntologyClass mondo A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. http://purl.obolibrary.org/obo/PATO_0002124 CHEBI:33653 aliphatic compound biolink:ChemicalSubstance mondo Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds. http://purl.obolibrary.org/obo/CHEBI_33653 aliphatic compounds CHEBI:33654 alicyclic compound biolink:ChemicalSubstance mondo An aliphatic compound having a carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system. http://purl.obolibrary.org/obo/CHEBI_33654 alicyclic compounds CHEBI:33655 aromatic compound biolink:ChemicalSubstance mondo A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compounds|aromatics|aromatische Verbindungen|aromatic molecular entity HGNC:2898 DLD biolink:OntologyClass mondo http://identifiers.org/hgnc/2898 UBERON:0004448 distal epiphysis of phalanx biolink:AnatomicalEntity mondo A distal epiphysis that is part of a phalanx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004448 head of phalanx HGNC:2897 DLC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2897 UBERON:0004449 cerebral artery biolink:AnatomicalEntity mondo One of three main pairs of arteries and their branches, which irrigate the cerebrum of the brain. http://purl.obolibrary.org/obo/UBERON_0004449 HGNC:2896 DLAT biolink:OntologyClass mondo http://identifiers.org/hgnc/2896 UBERON:0004446 epiphysis of phalanx biolink:AnatomicalEntity mondo An epiphysis that is part of a phalanx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004446 CHEBI:18059 lipid biolink:ChemicalSubstance mondo 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. http://purl.obolibrary.org/obo/CHEBI_18059 lipids|Lipid HGNC:2895 EDAR biolink:OntologyClass mondo http://identifiers.org/hgnc/2895 UBERON:0004447 proximal epiphysis of phalanx biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a phalanx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004447 UBERON:0004444 proximal epiphysis of distal phalanx of manual digit 1 biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a distal phalanx of manual digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004444 proximal epiphysis of distal phalanx of thumb|proximal epiphysis of distal phalanx of manual digit I|base of distal phalanx of thumb UBERON:0004445 proximal epiphysis of proximal phalanx of manual digit 1 biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a proximal phalanx of manual digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004445 proximal epiphysis of proximal phalanx of thumb|base of proximal phalanx of thumb|basal epiphysis of proximal phalanx of thumb|proximal epiphysis of proximal phalanx of manual digit I UBERON:0004443 proximal epiphysis of proximal phalanx of manual digit 5 biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a proximal phalanx of manual digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004443 proximal epiphysis of proximal phalanx of manual digit V|proximal epiphysis of proximal phalanx of little finger|base of proximal phalanx of little finger|base of proximal phalanx of fifth finger|base of proximal phalanx of fifth digit of hand|basal epiphysis of proximal phalanx of little finger MONDO:0007816 immune suppression biolink:Disease mondo UMLS:C1840264|OMIM:146850 http://identifiers.org/omim/146850|UMLS:C1840264 http://purl.obolibrary.org/obo/MONDO_0007816 streptococcal cell wall antigen, suppression of immune response to|IS|Iscw|immune suppression|immune suppression; IS MONDO:0007817 IgE responsiveness, atopic biolink:Disease mondo OMIM:147050|NCIT:C3116|UMLS:C1840253 Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue. NCIT:C3116|http://identifiers.org/omim/147050|UMLS:C1840253 http://purl.obolibrary.org/obo/MONDO_0007817 immediate hypersensitivity|type 1 hypersensitivity reaction|type I hypersensitivity|atopy, susceptibility to|IgE responsiveness, ATOPIC; IGER|IgE responsiveness, atopic|Atopic hypersensitivity|type I immediate hypersensitivity reaction|type I hypersensitivity reaction|type 1 hypersensitivity|Immunoglobulin E, basic level of, in serum|IgE response underlying allergic asthma and rhinitis|IgE, level of|IgE, elevated level of|IGER MONDO:0007814 immune deficiency, familial variable biolink:Disease mondo OMIM:146830|UMLS:C1840266|MESH:C564136|GARD:0002984 MESH:C564136|UMLS:C1840266|http://identifiers.org/omim/146830 http://purl.obolibrary.org/obo/MONDO_0007814 immune deficiency, familial variable gard_rare MONDO:0007815 immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist biolink:Disease mondo OMIM:146840|UMLS:C1840265|MESH:C564135 http://identifiers.org/omim/146840|MESH:C564135|UMLS:C1840265 http://purl.obolibrary.org/obo/MONDO_0007815 immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist MONDO:0007812 ichthyosis, lamellar, autosomal dominant biolink:Disease mondo MESH:C537263|OMIM:146750|GARD:0009735|SCTID:254164007 MESH:C537263|SNOMEDCT:254164007|http://identifiers.org/omim/146750 http://purl.obolibrary.org/obo/MONDO_0007812 lamellar ichthyosis, autosomal dominant|ichthyosis lamellar, autosomal dominant|ichthyosis, lamellar, autosomal dominant gard_rare MONDO:0007813 ichthyosis bullosa of Siemens biolink:Disease mondo DOID:0060877|GARD:0002966|OMIM:146800|ICD10:Q80.8|UMLS:C0432306|SCTID:254169002|MESH:D053560|NCIT:C84777|Orphanet:455 Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth. SNOMEDCT:254169002|NCIT:C84777|ORPHA:455|UMLS:C0432306|MESH:D053560|DOID:0060877|http://identifiers.org/omim/146800 http://purl.obolibrary.org/obo/MONDO_0007813 ichthyosis bullosa of Siemens|bullous type of ichthyosis|superficial epidermolytic ichthyosis|ichthyosis bullosa of Siemens; IBS|SEI|ichthyosis exfoliativa|bullous type ichthyosis|ichthyosis, bullous type|IBS ordo_disease|gard_rare MONDO:0007810 autosomal dominant ichthyosis vulgaris biolink:Disease mondo DOID:1702|OMIM:146700|GARD:0001897|ICD10:Q80.0|SCTID:254157005|UMLS:C0079584|MESH:D016112 Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern. UMLS:C0079584|http://identifiers.org/omim/146700|DOID:1702|SNOMEDCT:254157005|MESH:D016112 http://purl.obolibrary.org/obo/MONDO_0007810 dominant ichthyosis vulgaris|ichthyosis vulgaris|ichthyosis simplex|ichthyosis vulgaris, autosomal dominant|dominant congenital ichthyosiform erythroderma gard_rare MONDO:0007811 ichthyosis-cheek-eyebrow syndrome biolink:Disease mondo Orphanet:2267|GARD:0002947|SCTID:716097001|OMIM:146720|MESH:C536084 Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. ORPHA:2267|MESH:C536084|SNOMEDCT:716097001|UMLS:C1840283|http://identifiers.org/omim/146720 http://purl.obolibrary.org/obo/MONDO_0007811 Sidransky-Feinstein-Goodman syndrome|Sidransky Feinstein Goodman syndrome|ichthyosis cheek eyebrow syndrome|ichthyosis--cheek--eyebrow syndrome|Ice syndrome ordo_disease HGNC:2899 DLEC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2899 UBERON:0016410 male breast biolink:AnatomicalEntity mondo A breast that is part of a male organism. http://purl.obolibrary.org/obo/UBERON_0016410 mamma masculina CHEBI:33661 monocyclic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33661 monocyclic compounds PATO:0002132 neoplastic, non-invasive biolink:OntologyClass mondo A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues. http://purl.obolibrary.org/obo/PATO_0002132 CHEBI:33662 annulene biolink:ChemicalSubstance mondo A mancude monocyclic hydrocarbon without side chains of the general formula CnHn (n is an even number) or CnHn+1 (n is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [n]annulene, where n is the number of carbon atoms. http://purl.obolibrary.org/obo/CHEBI_33662 annulenes|annulene CHEBI:33663 cyclic hydrocarbon biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbons|cyclic hydrocarbon CHEBI:33664 monocyclic hydrocarbon biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33664 monocyclic hydrocarbons|monocyclic hydrocarbon|monocyclic hydrocarbons CHEBI:33666 polycyclic hydrocarbon biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon|polycyclic hydrocarbons CHEBI:18049 piperidine biolink:ChemicalSubstance mondo An azacycloalkane that is cyclohexane in which one of the carbons is replaced by a nitrogen. It is a metabolite of cadaverine, a polyamine found in the human intestine. http://purl.obolibrary.org/obo/CHEBI_18049 pentamethyleneamine|azinane|pip|Hexahydropyridine|Piperidine|piperidine|Azacyclohexane|pentamethyleneimine|cyclopentimine|pentamethylenimine FOODON:00001109 caprine dairy food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001109 UBERON:0004435 proximal epiphysis of distal phalanx of manual digit 5 biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a distal phalanx of manual digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004435 base of distal phalanx of fifth digit of hand|basal epiphysis of distal phalanx of little finger|base of distal phalanx of fifth finger|proximal epiphysis of distal phalanx of little finger|proximal epiphysis of distal phalanx of manual digit V|base of distal phalanx of little finger|basal epiphysis of distal phalanx of fifth finger FOODON:00001107 bovine dairy food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001107 MONDO:0007809 ichthyosis hystrix gravior biolink:Disease mondo MESH:C536087|OMIM:146600|SCTID:254174005|GARD:0009497|Orphanet:79504|ICD9:757.39|ICD10:Q80.0 ORPHA:79504|SNOMEDCT:254174005|http://identifiers.org/omim/146600|MESH:C536087|UMLS:C0432311 http://purl.obolibrary.org/obo/MONDO_0007809 Lambert type ichthyosis|ichthyosis, Lambert type|ichthyosis hystrix gravior|porcupine Man gard_rare|ordo_disease MONDO:0007807 hypoxanthine guanine phosphoribosyltransferase suppressor biolink:Disease mondo OMIM:146580 http://identifiers.org/omim/146580 http://purl.obolibrary.org/obo/MONDO_0007807 hypoxanthine guanine phosphoribosyltransferase suppressor UBERON:0004431 proximal epiphysis of fifth metatarsal bone biolink:AnatomicalEntity mondo A proximal epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004431 base of fifth metatarsal bone|proximal epiphysis of metatarsal 5|proximal end of fifth metatarsal bone MONDO:0007808 ichthyosis hystrix of Curth-Macklin biolink:Disease mondo MESH:C536088|Orphanet:79503|ICD10:Q80.8|SCTID:254170001|UMLS:C1840296|ICD9:757.39|OMIM:146590|GARD:0002954 Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK). ORPHA:79503|UMLS:C1840296|http://identifiers.org/omim/146590|SNOMEDCT:254170001|MESH:C536088|UMLS:C0432307 http://purl.obolibrary.org/obo/MONDO_0007808 IHCM|Curth-Macklin type ichthyosis hystrix|ichthyosis hystrix, Curth-Macklin type|ichthyosis HYSTRIX, Curth-Macklin type; IHCM|ichthyosis hystrix, Curth Macklin type|ichthyosis HYSTRIX, Curth-Macklin type ordo_disease GO:0007599 hemostasis biolink:OntologyClass mondo The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. http://purl.obolibrary.org/obo/GO_0007599 HP:0100360 Contractures of the joints of the upper limbs biolink:PhenotypicFeature mondo UMLS:C2750635 http://purl.obolibrary.org/obo/HP_0100360 GO:0007596 blood coagulation biolink:OntologyClass mondo The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. http://purl.obolibrary.org/obo/GO_0007596 blood clotting GO:0007595 lactation biolink:OntologyClass mondo The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. http://purl.obolibrary.org/obo/GO_0007595 milk secretion NCBITaxon:223472 Psoroptidia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_223472 Sarcoptidia GO:0032543 mitochondrial translation biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. http://purl.obolibrary.org/obo/GO_0032543 mitochondrial protein anabolism|mitochondrial protein synthesis|mitochondrial protein formation|mitochondrial protein translation|mitochondrial protein biosynthesis MONDO:0017093 unilateral focal polymicrogyria biolink:Disease mondo ICD10:Q04.3|Orphanet:268947 Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. ORPHA:268947 http://purl.obolibrary.org/obo/MONDO_0017093 ordo_clinical_subtype MONDO:0017094 cerebral cortical dysplasia biolink:Disease mondo ICD10:Q04.8|NCIT:C42088|MESH:D054220|SCTID:253153000|Orphanet:268950 Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay. SNOMEDCT:253153000|MESH:D054220|ORPHA:268950|NCIT:C42088 http://purl.obolibrary.org/obo/MONDO_0017094 cortical dysplasia|brain cortical dysplasia ordo_group_of_disorders MONDO:0017095 isolated focal cortical dysplasia type I biolink:Disease mondo ICD10:Q04.8|Orphanet:268961|UMLS:CN202452 ORPHA:268961|UMLS:CN202452 http://purl.obolibrary.org/obo/MONDO_0017095 FCD type I ordo_clinical_subtype HGNC:20376 SUMF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20376 MONDO:0017096 isolated focal cortical dysplasia type Ia biolink:Disease mondo ICD10:Q04.8|Orphanet:268973|UMLS:CN202453 UMLS:CN202453|ORPHA:268973 http://purl.obolibrary.org/obo/MONDO_0017096 FCD type Ia ordo_histopathological_subtype MONDO:0017090 midline cerebral malformation biolink:Disease mondo ICD10:Q04.8|Orphanet:268926 ORPHA:268926 http://purl.obolibrary.org/obo/MONDO_0017090 Midline brain malformation ordo_group_of_disorders MONDO:0017091 bilateral polymicrogyria biolink:Disease mondo SCTID:765757003|ICD10:Q04.3|Orphanet:268940 Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. ORPHA:268940|SNOMEDCT:765757003 http://purl.obolibrary.org/obo/MONDO_0017091 ordo_morphological_anomaly MONDO:0017092 unilateral polymicrogyria biolink:Disease mondo SCTID:715905006|Orphanet:268943|ICD10:Q04.3|UMLS:C4024960 Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria. ORPHA:268943|SNOMEDCT:715905006|UMLS:C4024960 http://purl.obolibrary.org/obo/MONDO_0017092 ordo_morphological_anomaly HGNC:19380 RNU12 biolink:OntologyClass mondo http://identifiers.org/hgnc/19380 HGNC:20371 NDUFA11 biolink:OntologyClass mondo http://identifiers.org/hgnc/20371 HGNC:20372 NDUFB11 biolink:OntologyClass mondo http://identifiers.org/hgnc/20372 HGNC:20373 SPG21 biolink:OntologyClass mondo http://identifiers.org/hgnc/20373 NCBITaxon:2605435 Evosea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2605435 MONDO:0017097 isolated focal cortical dysplasia type Ib biolink:Disease mondo UMLS:CN202454|Orphanet:268980|ICD10:Q04.8 UMLS:CN202454|ORPHA:268980 http://purl.obolibrary.org/obo/MONDO_0017097 FCD type IB ordo_histopathological_subtype MONDO:0017098 isolated focal cortical dysplasia type Ic biolink:Disease mondo Orphanet:268987|UMLS:CN202455|ICD10:Q04.8 UMLS:CN202455|ORPHA:268987 http://purl.obolibrary.org/obo/MONDO_0017098 FCD type Ic ordo_histopathological_subtype NCBITaxon:8287 Sarcopterygii organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8287 MONDO:0017099 obsolete facioscapulohumeral dystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017099 MONDO:0017082 basal encephalocele biolink:Disease mondo Orphanet:268829|ICD10:Q01.8|UMLS:C4023176 ORPHA:268829|UMLS:C4023176 http://purl.obolibrary.org/obo/MONDO_0017082 ordo_clinical_subtype MONDO:0017083 lipoma associated with neurospinal dysraphism biolink:Disease mondo Orphanet:268832 ORPHA:268832 http://purl.obolibrary.org/obo/MONDO_0017083 ordo_group_of_disorders MONDO:0017084 leptomyelolipoma biolink:Disease mondo Orphanet:268838 Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present. ORPHA:268838 http://purl.obolibrary.org/obo/MONDO_0017084 ordo_morphological_anomaly MONDO:0017085 malformation of the neurenteric canal, spinal cord and column biolink:Disease mondo Orphanet:268843 ORPHA:268843 http://purl.obolibrary.org/obo/MONDO_0017085 ordo_group_of_disorders HGNC:20389 RETN biolink:OntologyClass mondo http://identifiers.org/hgnc/20389 MONDO:0017080 occipital encephalocele biolink:Disease mondo ICD10:Q01.2|Orphanet:268823|SCTID:42376006 SNOMEDCT:42376006|ORPHA:268823|UMLS:C0014067 http://purl.obolibrary.org/obo/MONDO_0017080 ordo_clinical_subtype GO:0007589 body fluid secretion biolink:OntologyClass mondo The controlled release of a fluid by a cell or tissue in an animal. http://purl.obolibrary.org/obo/GO_0007589 MONDO:0017081 parietal encephalocele biolink:Disease mondo SCTID:253109005|ICD10:Q01.8|Orphanet:268826 ORPHA:268826|UMLS:C0431294|SNOMEDCT:253109005 http://purl.obolibrary.org/obo/MONDO_0017081 ordo_clinical_subtype GO:0007588 excretion biolink:OntologyClass mondo The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. http://purl.obolibrary.org/obo/GO_0007588 GO:0007586 digestion biolink:OntologyClass mondo The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/GO_0007586 GO:0007585 respiratory gaseous exchange by respiratory system biolink:OntologyClass mondo The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/GO_0007585 breathing|respiration GO:0007584 response to nutrient biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. http://purl.obolibrary.org/obo/GO_0007584 response to nutrients|nutritional response pathway MONDO:0017086 primary tethered cord syndrome biolink:Disease mondo GARD:0004018|UMLS:CN202446|Orphanet:268861|SCTID:70534000 Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. UMLS:CN202446|ORPHA:268861|SNOMEDCT:70534000 http://purl.obolibrary.org/obo/MONDO_0017086 segmental vertebral anomalies|primary tethered spinal cord syndrome|tethered cord syndrome|occult spinal dysraphism sequence|occult spinal dysraphism ordo_morphological_anomaly MONDO:0017087 neurenteric cyst biolink:Disease mondo Orphanet:268865 UMLS:C0027806|ORPHA:268865 http://purl.obolibrary.org/obo/MONDO_0017087 ordo_morphological_anomaly MONDO:0017088 isolated amyelia biolink:Disease mondo Orphanet:268868|ICD10:Q06.0 ORPHA:268868 http://purl.obolibrary.org/obo/MONDO_0017088 ordo_morphological_anomaly MONDO:0017089 isolated megalencephaly biolink:Disease mondo Orphanet:268920|ICD10:Q04.5 A megalencephaly (disease) that is not part of a larger syndrome. ORPHA:268920 http://purl.obolibrary.org/obo/MONDO_0017089 nonsyndromic megalencephaly (disease)|isolated megalencephaly (disease)|isolated macrencephaly ordo_clinical_subtype MONDO:0044690 optic perineuritis biolink:Disease mondo SCTID:713417000|UMLS:C4076165|Orphanet:499107 SNOMEDCT:713417000|ORPHA:499107|UMLS:C4076165 http://purl.obolibrary.org/obo/MONDO_0044690 OPN ordo_disease MONDO:0030049 46,xx sex reversal 5 biolink:Disease mondo OMIM:618901 http://identifiers.org/omim/618901 http://purl.obolibrary.org/obo/MONDO_0030049 SRXX5|46,xx sex reversal 5|46,XX SEX REVERSAL 5; SRXX5 MONDO:0044699 SIN3A-related intellectual disability syndrome biolink:Disease mondo Orphanet:500163 ORPHA:500163 http://purl.obolibrary.org/obo/MONDO_0044699 ordo_malformation_syndrome MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome biolink:Disease mondo UMLS:CN474476|OMIM:617669|Orphanet:500144 ORPHA:500144|http://identifiers.org/omim/617669|UMLS:CN474476 http://purl.obolibrary.org/obo/MONDO_0044696 encephalopathy, progressive, early-onset, with brain atrophy and spasticity|encephalopathy, progressive, early-onset, with brain atrophy and spasticity; PEBAS|PEBAS ordo_malformation_syndrome MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures biolink:Disease mondo OMIM:618906 http://identifiers.org/omim/618906 http://purl.obolibrary.org/obo/MONDO_0030051 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS|IDDALDS|intellectual developmental disorder with autistic features and language delay, with or without seizures GO:0019538 protein metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a protein. Includes protein modification. http://purl.obolibrary.org/obo/GO_0019538 multicellular organismal protein metabolic process|protein metabolic process and modification|protein metabolism and modification|protein metabolism MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome biolink:Disease mondo OMIM:618914 http://identifiers.org/omim/618914 http://purl.obolibrary.org/obo/MONDO_0030057 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED|neurodevelopmental, jaw, eye, and digital syndrome|NEDJED MONDO:0030056 fanconi renotubular syndrome 5 biolink:Disease mondo OMIM:618913 http://identifiers.org/omim/618913 http://purl.obolibrary.org/obo/MONDO_0030056 Fanconi Renotubular Syndrome, Acadian Variant|FANCONI RENOTUBULAR SYNDROME 5; FRTS5|FRTS5|fanconi renotubular syndrome 5 MONDO:0030059 developmental and epileptic encephalopathy, 87 biolink:Disease mondo OMIM:618916 http://identifiers.org/omim/618916 http://purl.obolibrary.org/obo/MONDO_0030059 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87; EIEE87|epileptic encephalopathy, early infantile, 87|DEE87|EIEE87 MONDO:0030058 deafness, autosomal dominant 77 biolink:Disease mondo OMIM:618915 http://identifiers.org/omim/618915 http://purl.obolibrary.org/obo/MONDO_0030058 DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77|DFNA77|deafness, autosomal dominant 77 UBERON:0004502 skeletal muscle tissue of biceps brachii biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of a biceps brachii [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004502 skeletal muscle tissue of biceps brachii muscle HGNC:19368 HYDIN biolink:OntologyClass mondo http://identifiers.org/hgnc/19368 MONDO:0030055 sorbitol dehydrogenase deficiency with peripheral neuropathy biolink:Disease mondo OMIM:618912 http://identifiers.org/omim/618912 http://purl.obolibrary.org/obo/MONDO_0030055 Sorbitol Dehydrogenase Deficiency|SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD|sorbitol dehydrogenase deficiency with peripheral neuropathy|SORDD MONDO:0030054 developmental and epileptic encephalopathy, 86 biolink:Disease mondo OMIM:618910 http://identifiers.org/omim/618910 http://purl.obolibrary.org/obo/MONDO_0030054 EIEE86|DEE86|epileptic encephalopathy, early infantile, 86|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86; EIEE86 GO:0032504 multicellular organism reproduction biolink:OntologyClass mondo The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/GO_0032504 GO:0032502 developmental process biolink:OntologyClass mondo A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/GO_0032502 single-organism developmental process|development GO:0007568 aging biolink:OntologyClass mondo A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). http://purl.obolibrary.org/obo/GO_0007568 ageing GO:0032501 multicellular organismal process biolink:OntologyClass mondo Any biological process, occurring at the level of a multicellular organism, pertinent to its function. http://purl.obolibrary.org/obo/GO_0032501 single-multicellular organism process|organismal physiological process GO:0007566 embryo implantation biolink:OntologyClass mondo Attachment of the blastocyst to the uterine lining. http://purl.obolibrary.org/obo/GO_0007566 blastocyst implantation GO:0007565 female pregnancy biolink:OntologyClass mondo The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. http://purl.obolibrary.org/obo/GO_0007565 gestation|carrying of young MONDO:0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities biolink:Disease mondo OMIM:618917 http://identifiers.org/omim/618917 http://purl.obolibrary.org/obo/MONDO_0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities|NEDLIB|NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 biolink:Disease mondo OMIM:618920 http://identifiers.org/omim/618920 http://purl.obolibrary.org/obo/MONDO_0030062 ARVD14|arrhythmogenic right ventricular dysplasia, familial, 14|Arrhythmogenic Right Ventricular Cardiomyopathy 14|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14 MONDO:0030061 periventricular nodular heterotopia 9 biolink:Disease mondo OMIM:618918 http://identifiers.org/omim/618918 http://purl.obolibrary.org/obo/MONDO_0030061 PVNH9|PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9|periventricular nodular heterotopia 9 MONDO:0030067 treacher collins syndrome 4 biolink:Disease mondo OMIM:618939 http://identifiers.org/omim/618939 http://purl.obolibrary.org/obo/MONDO_0030067 treacher collins syndrome 4|TREACHER COLLINS SYNDROME 4; TCS4|TCS4 MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive biolink:Disease mondo OMIM:618944 http://identifiers.org/omim/618944 http://purl.obolibrary.org/obo/MONDO_0030069 HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5|HIES5|hyper-IgE recurrent infection syndrome 5, autosomal recessive MONDO:0030064 episodic ataxia, type 9 biolink:Disease mondo OMIM:618924 http://identifiers.org/omim/618924 http://purl.obolibrary.org/obo/MONDO_0030064 EPISODIC ATAXIA, TYPE 9; EA9|EA9|episodic ataxia, type 9 MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities biolink:Disease mondo OMIM:618922 http://identifiers.org/omim/618922 http://purl.obolibrary.org/obo/MONDO_0030063 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA|NEDSHBA|neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 biolink:Disease mondo OMIM:618935 http://identifiers.org/omim/618935 http://purl.obolibrary.org/obo/MONDO_0030066 granulomatous disease, chronic, autosomal recessive, 5|Granulomatous Disease, Chronic, Due to Cybc1 Deficiency|CGD5|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome biolink:Disease mondo OMIM:618929 http://identifiers.org/omim/618929 http://purl.obolibrary.org/obo/MONDO_0030065 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS|ACOGS|agenesis of corpus callosum, cardiac, ocular, and genital syndrome HGNC:20330 POMP biolink:OntologyClass mondo http://identifiers.org/hgnc/20330 FOODON:03315150 mammalian milk product biolink:OntologyClass mondo SUBSET_SIREN:F15150 http://purl.obolibrary.org/obo/FOODON_03315150 "subset_siren" MONDO:0030071 retinitis pigmentosa 89 biolink:Disease mondo OMIM:618955 http://identifiers.org/omim/618955 http://purl.obolibrary.org/obo/MONDO_0030071 RP89|retinitis pigmentosa 89|RETINITIS PIGMENTOSA 89; RP89 MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility biolink:Disease mondo OMIM:618948 http://identifiers.org/omim/618948 http://purl.obolibrary.org/obo/MONDO_0030070 HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9|heterotaxy, visceral, 9, autosomal, with male infertility|HTX9 MONDO:0030073 Mitchell syndrome biolink:Disease mondo OMIM:618960 http://identifiers.org/omim/618960 http://purl.obolibrary.org/obo/MONDO_0030073 Mitchell syndrome|MITCH|Mitchell syndrome; MITCH MONDO:0030072 developmental and epileptic encephalopathy, 88 biolink:Disease mondo OMIM:618959 http://identifiers.org/omim/618959 http://purl.obolibrary.org/obo/MONDO_0030072 epileptic encephalopathy, early infantile, 88|DEE88|EIEE88|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88; EIEE88 HGNC:19349 KIF21A biolink:OntologyClass mondo http://identifiers.org/hgnc/19349 HGNC:2810 GSDME biolink:OntologyClass mondo http://identifiers.org/hgnc/2810 MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy biolink:Disease mondo OMIM:618961 http://identifiers.org/omim/618961 http://purl.obolibrary.org/obo/MONDO_0030074 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD|spondylometaphyseal dysplasia with corneal dystrophy|SMDCD MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 biolink:Disease mondo OMIM:618845 http://identifiers.org/omim/618845 http://purl.obolibrary.org/obo/MONDO_0030077 Congenital Nad Deficiency Disorder 3|VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3|VCRL3|vertebral, cardiac, renal, and limb defects syndrome 3 CHEBI:57586 biotinate biolink:ChemicalSubstance mondo Conjugate base of biotin arising from deprotonation of the carboxy group. http://purl.obolibrary.org/obo/CHEBI_57586 biotin|5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoate|biotinate anion HGNC:19344 DENND5A biolink:OntologyClass mondo http://identifiers.org/hgnc/19344 HGNC:19353 SIN3A biolink:OntologyClass mondo http://identifiers.org/hgnc/19353 HGNC:20342 ZDHHC15 biolink:OntologyClass mondo http://identifiers.org/hgnc/20342 HGNC:19351 BICC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19351 GO:0007548 sex differentiation biolink:OntologyClass mondo The establishment of the sex of an organism by physical differentiation. http://purl.obolibrary.org/obo/GO_0007548 HGNC:20347 VIPAS39 biolink:OntologyClass mondo http://identifiers.org/hgnc/20347 HGNC:20340 PRICKLE2 biolink:OntologyClass mondo http://identifiers.org/hgnc/20340 MONDO:0030089 diabetes mellitus, permanent neonatal 4 biolink:Disease mondo OMIM:618858 http://identifiers.org/omim/618858 http://purl.obolibrary.org/obo/MONDO_0030089 PNDM4|DIABETES MELLITUS, PERMANENT NEONATAL 4; PNDM4|diabetes mellitus, permanent neonatal 4 HGNC:19358 ALG12 biolink:OntologyClass mondo http://identifiers.org/hgnc/19358 UBERON_CORE:anteriorly_connected_to anteriorly connected to biolink:OntologyClass mondo x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to MONDO:0030088 diabetes mellitus, permanent neonatal 3 biolink:Disease mondo OMIM:618857 http://identifiers.org/omim/618857 http://purl.obolibrary.org/obo/MONDO_0030088 PNDM3|DIABETES MELLITUS, PERMANENT NEONATAL 3; PNDM3|diabetes mellitus, permanent neonatal 3|Developmental Delay, Epilepsy, and Neonatal Diabetes 2 MONDO:0030087 diabetes mellitus, permanent neonatal 2 biolink:Disease mondo OMIM:618856 http://identifiers.org/omim/618856 http://purl.obolibrary.org/obo/MONDO_0030087 DIABETES MELLITUS, PERMANENT NEONATAL 2; PNDM2|PNDM2|diabetes mellitus, permanent neonatal 2|Developmental Delay, Epilepsy, and Neonatal Diabetes 1 MONDO:0019690 filamin-related bone disorder biolink:Disease mondo Orphanet:93425|UMLS:CN227676 ORPHA:93425|UMLS:CN227676 http://purl.obolibrary.org/obo/MONDO_0019690 bone filaminopathy ordo_group_of_disorders MONDO:0030009 alopecia-mental retardation syndrome 4 biolink:Disease mondo OMIM:618840 http://identifiers.org/omim/618840 http://purl.obolibrary.org/obo/MONDO_0030009 alopecia-mental retardation syndrome 4|APMR4|alopecia-intellectual disability syndrome 4|ALOPECIA-MENTAL RETARDATION SYNDROME 4; APMR4 MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia biolink:Disease mondo Orphanet:93429|ICD10:Q78.8 ORPHA:93429 http://purl.obolibrary.org/obo/MONDO_0019692 ordo_group_of_disorders MONDO:0019691 short rib dysplasia biolink:Disease mondo ICD10:Q77.2|Orphanet:93426|SCTID:254050009|ICD9:756.3 ORPHA:93426|SNOMEDCT:254050009|UMLS:C0432195 http://purl.obolibrary.org/obo/MONDO_0019691 SRP|short-rib dysplasia (with or without polydactyly)|ciliopathies with major skeletal involvement ordo_group_of_disorders MONDO:0017030 interstitial lung disease in childhood and adulthood biolink:Disease mondo UMLS:CN202341|Orphanet:264757 ORPHA:264757|UMLS:CN202341 http://purl.obolibrary.org/obo/MONDO_0017030 ILD in childhood and adulthood ordo_group_of_disorders HGNC:20311 CHAMP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20311 FOODON:03411059 shellfish or crustacean biolink:OntologyClass mondo Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish] http://purl.obolibrary.org/obo/FOODON_03411059 MONDO:0030006 combined oxidative phosphorylation deficiency 40 biolink:Disease mondo OMIM:618835 http://identifiers.org/omim/618835 http://purl.obolibrary.org/obo/MONDO_0030006 COXPD40|combined oxidative phosphorylation deficiency 40|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 MONDO:0032669 Diamond-Blackfan anemia 19 biolink:Disease mondo OMIM:618312 http://identifiers.org/omim/618312 http://purl.obolibrary.org/obo/MONDO_0032669 DIAMOND-BLACKFAN ANEMIA 19; DBA19 MONDO:0005049 intracranial hemorrhage biolink:Disease mondo ICD9:432.9|EFO:0000551|UMLS:CN236663|MESH:D020300 Bleeding within the cranium. NCIT:C50438|UMLS:CN236663|MESH:D020300 http://purl.obolibrary.org/obo/MONDO_0005049 MONDO:0030005 epilepsy, early-onset, with or without developmental delay biolink:Disease mondo OMIM:618832 http://identifiers.org/omim/618832 http://purl.obolibrary.org/obo/MONDO_0030005 EPEDD|epilepsy, early-onset, with or without developmental delay|EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD MONDO:0030008 combined oxidative phosphorylation deficiency 42 biolink:Disease mondo OMIM:618839 http://identifiers.org/omim/618839 http://purl.obolibrary.org/obo/MONDO_0030008 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42|COXPD42|combined oxidative phosphorylation deficiency 42 MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 biolink:Disease mondo OMIM:618309 http://identifiers.org/omim/618309 http://purl.obolibrary.org/obo/MONDO_0032667 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 MONDO:0030007 combined oxidative phosphorylation deficiency 41 biolink:Disease mondo OMIM:618838 http://identifiers.org/omim/618838 http://purl.obolibrary.org/obo/MONDO_0030007 combined oxidative phosphorylation deficiency 41|COXPD41|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 MONDO:0032668 Diamond-Blackfan anemia 18 biolink:Disease mondo OMIM:618310 http://identifiers.org/omim/618310 http://purl.obolibrary.org/obo/MONDO_0032668 DIAMOND-BLACKFAN ANEMIA 18; DBA18 MONDO:0005046 immune system disease biolink:Disease mondo ICD9:279.9|ICD9:279.8|DOID:2914|EFO:0000540|NCIT:C3507|ICD9:279.4|MESH:D007154|ICD9:279.19|ICD9:279.1|ICD9:279.49|ICD9:279|ICD10:D89.9|SCTID:414029004|ICD9:279.10 A disorder resulting from an abnormality in the immune system. SNOMEDCT:414029004|MESH:D007154|DOID:2914|NCIT:C3507 http://purl.obolibrary.org/obo/MONDO_0005046 disorder of immune system|immune disorder|immune disorder, NOS|disorder of immune system|disease or disorder of immune system|immune dysfunction|disease of immune system|immune system disease or disorder|immune system disorder|immune disease MONDO:0020687 supratentorial ependymal tumor biolink:Disease mondo NCIT:C131611 An ependymal tumor arising from the supratentorial region of the brain. NCIT:C131611 http://purl.obolibrary.org/obo/MONDO_0020687 supratentorial ependymal tumor MONDO:0005045 hypertrophic cardiomyopathy biolink:Disease mondo UMLS:C0007194|Orphanet:217569|ICD9:425.4|NCIT:C34449|OMIMPS:192600|COHD:4124693|KEGG:05410|EFO:0000538|DOID:11984|MESH:D002312|MedDRA:10020871|SCTID:233873004|ICD9:425.11|ICD10:I42.1|ICD9:425.1 A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. UMLS:C0007194|MEDDRA:10020871|ORPHA:217569|DOID:11984|SNOMEDCT:233873004|MESH:D002312|NCIT:C34449 http://purl.obolibrary.org/obo/MONDO_0005045 obstructive hypertrophic cardiomyopathy|HCM - hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy|hypertrophic subaortic stenosis|hypertrophic cardiomyopathy|hypertrophic obstructive cardiomyopathy clingen|ordo_group_of_disorders MONDO:0020686 acute adenoiditis biolink:Disease mondo ICD9:463|UMLS:C0001361|NCIT:C97142|SCTID:17741008 An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes. SNOMEDCT:17741008|UMLS:C0001361|NCIT:C97142 http://purl.obolibrary.org/obo/MONDO_0020686 acute Tonsillitis|acute tonsillitis|acute tonsillitis|Infective tonsillitis MONDO:0044656 epidermolytic nevus biolink:Disease mondo UMLS:C1302848|SCTID:400142003|Orphanet:497737 ORPHA:497737|UMLS:C1302848|SNOMEDCT:400142003 http://purl.obolibrary.org/obo/MONDO_0044656 epidermolytic epidermal nevus|epidermolytic verrucous epidermal nevus|Epidermal nevus with epidermolytic hyperkeratosis ordo_disease MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor biolink:Disease mondo NCIT:C3140|Orphanet:97279|ICDO:8151/1|ICDO:8151/0 An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome. ORPHA:97279|UMLS:C0021670|NCIT:C3140 http://purl.obolibrary.org/obo/MONDO_0005048 pancreatic insulin-producing neuroendocrine tumor|Beta cell tumor|insulin-producing tumor of the islet cells|insulin-producing tumor of islet cells|pancreatic insulin-producing tumor|pancreatic insulin producing tumor|pancreatic insulin producing NET|pancreatic insulin producing neoplasm|pancreatic Beta cell tumor|insulin-producing islet cell tumor|Beta cell tumor of pancreas|beta cell neoplasm|beta cell tumor of the pancreas|Beta cell tumor of the pancreas MONDO:0020685 infratentorial ependymal tumor biolink:Disease mondo NCIT:C131612 An ependymal tumor arising from the infratentorial region of the brain. NCIT:C131612 http://purl.obolibrary.org/obo/MONDO_0020685 infratentorial ependymal tumor MONDO:0005047 infertility disorder biolink:Disease mondo MESH:D007246|NCIT:C3836|DOID:5223|EFO:0000545 Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. MESH:D007246|NCIT:C3836|DOID:5223 http://purl.obolibrary.org/obo/MONDO_0005047 infertility|fertility disorders|sterility|infertile|Sterile|sterile clingen MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 biolink:Disease mondo OMIM:130080 http://identifiers.org/omim/130080 http://purl.obolibrary.org/obo/MONDO_0020684 EDS 8|Ehlers-Danlos syndrome, periodontal type, 1|Ehlers-Danlos syndrome, periodontal type, 1; EDSPD1|Ehlers-Danlos syndrome, type 8|Ehlers-Danlos syndrome, periodontitis type|EDSPD1|Ehlers-Danlos syndrome, periodontosis type MONDO:0044655 c12orf65-related combined oxidative phosphorylation defect biolink:Disease mondo Orphanet:497623 ORPHA:497623 http://purl.obolibrary.org/obo/MONDO_0044655 C12ORF65-related COXPD ordo_group_of_disorders HGNC:10989 SLC25A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10989 MONDO:0020683 acute disease biolink:Disease mondo UMLS:C0001314|ICD9:799.89|MESH:D000208|SCTID:2704003 Disease having a short and relatively severe course. UMLS:C0001314|MESH:D000208|SNOMEDCT:2704003 http://purl.obolibrary.org/obo/MONDO_0020683 acute Disease|Disease, Acute|acute Diseases|acute disease|acute disease|Diseases, Acute MONDO:0005042 head disease biolink:Disease mondo EFO:0000524|UMLS:C1290856|SCTID:118934005 A disease involving the head. UMLS:C1290856|SNOMEDCT:118934005 http://purl.obolibrary.org/obo/MONDO_0005042 head disease or disorder|disorder of head|disease of head|disorder of head|disease or disorder of head|head disease MONDO:0005041 glaucoma (disease) biolink:Disease mondo ICD10:H40|SCTID:23986001|HP:0000501|NCIT:C26782|ICD10:H40.9|ICD10:H40-H42|COHD:437541|ICD10:H40.H42|MESH:D005901|ICD9:365.89|ICD9:365|ICD9:365.9|EFO:0000516|DOID:1686|UMLS:C0017601 Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. DOID:1686|UMLS:C0017601|NCIT:C26782|MESH:D005901|SNOMEDCT:23986001 http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma MONDO:0020682 Ehlers-Danlos syndrome, progeroid type 1 biolink:Disease mondo OMIM:130070 http://identifiers.org/omim/130070 http://purl.obolibrary.org/obo/MONDO_0020682 xylosylprotein 4-Beta-galactosyltransferase deficiency|EDSSPD1|proteodermatan sulfate, defective biosynthesis of|dermatan sulfate proteoglycan|Ehlers-Danlos syndrome, spondylodysplastic type, 1; EDSSPD1|Ehlers-Danlos syndrome with Short stature and Limb anomalies|galactosyltransferase 1 deficiency|Xgpt deficiency|Ehlers-Danlos syndrome, progeroid type, 1, formerly|Ehlers-Danlos syndrome, progeroid type, 1|Pds, defective biosynthesis of MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 biolink:Disease mondo OMIM:601776 http://identifiers.org/omim/601776 http://purl.obolibrary.org/obo/MONDO_0020681 EDSMC|Arthrogryposis, Distal, with peculiar facies and hydronephrosis|Ehlers-Danlos syndrome, type Vib|EDSMC1|adducted thumb-clubfoot syndrome|Dundar syndrome|adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome|Ehlers-Danlos syndrome, musculocontractural type, 1; EDSMC1|Ehlers-Danlos syndrome, type Vib, formerly MONDO:0005044 hypertensive disorder biolink:Disease mondo UMLS:C0020538|ICD9:401-405.99|SCTID:38341003|ICD9:997.91|ICD10:I10|EFO:0000537|DOID:10763|ICD10:I10-I15|ICD10:I15|NCIT:C3117|MESH:D006973|HP:0000822 Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. MESH:D006973|NCIT:C3117|SNOMEDCT:38341003|DOID:10763|UMLS:C0020538 http://purl.obolibrary.org/obo/MONDO_0005044 increased blood pressure|HTN|vascular hypertensive disorder|pressure, high blood|high blood pressure|blood pressure, increased|hypertensive disease|blood pressure, high|hypertension|hyperpiesia MONDO:0044652 optic atrophy-peripheral neuropathy-developmental delay syndrome biolink:Disease mondo Orphanet:496790 ORPHA:496790 http://purl.obolibrary.org/obo/MONDO_0044652 Harel-Yoon syndrome ordo_disease MONDO:0005043 hyperplasia biolink:Disease mondo MESH:D006965|EFO:0000536|NCIT:C3113 An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. MESH:D006965|NCIT:C3113 http://purl.obolibrary.org/obo/MONDO_0005043 hyperplastic|hyperplasia MONDO:0020680 acute bronchiolitis biolink:Disease mondo SCTID:5505005|UMLS:C0001311|NCIT:C39659|ICD9:466.19|ICD9:466.1 Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus. SNOMEDCT:5505005|UMLS:C0001311|NCIT:C39659 http://purl.obolibrary.org/obo/MONDO_0020680 acute bronchiolitis|capillary pneumonia|acute capillary bronchiolitis|acute bronchiolitis|acute Bronchiolitis|Capillary pneumonia MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome biolink:Disease mondo Orphanet:496756 ORPHA:496756 http://purl.obolibrary.org/obo/MONDO_0044651 ordo_disease HGNC:10993 SLC26A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10993 HGNC:10994 SLC26A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10994 MONDO:0005040 germ cell tumor biolink:Disease mondo DOID:2994|NCIT:C3708|GARD:0013022|UMLS:C0205851|EFO:0000514 A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. UMLS:C0205851|DOID:2994|NCIT:C3708 http://purl.obolibrary.org/obo/MONDO_0005040 malignant tumor of the germ cell|neoplasm of the germ cell|germ cells tumors|neoplasm of germ cell|germ cell tumor|germ cell neoplasm|tumor of the germ cell|tumor of germ cell|germ cell tumour|germ cell cancer gard_rare MONDO:0017039 drug or radiation exposure-related interstitial lung disease biolink:Disease mondo ICD10:J70.4|ICD10:J70.3|ICD10:J70.2|ICD10:J70.1|UMLS:CN202350|ICD10:J70.0|Orphanet:264978 ORPHA:264978|UMLS:CN202350 http://purl.obolibrary.org/obo/MONDO_0017039 ordo_clinical_situation MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome biolink:Disease mondo Orphanet:496686 ORPHA:496686 http://purl.obolibrary.org/obo/MONDO_0044647 ordo_disease MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome biolink:Disease mondo OMIM:617193|Orphanet:496641|UMLS:C4310671 UMLS:C4310671|ORPHA:496641|http://identifiers.org/omim/617193 http://purl.obolibrary.org/obo/MONDO_0044646 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT|encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum|PEBAT ordo_malformation_syndrome MONDO:0020679 conductive hearing loss disorder biolink:Disease mondo SCTID:44057004|NCIT:C27645 Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea. NCIT:C27645|SNOMEDCT:44057004 http://purl.obolibrary.org/obo/MONDO_0020679 conductive deafness|conductive hearing loss|conductive deafness HGNC:10998 SLC27A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/10998 MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome biolink:Disease mondo Orphanet:496693 ORPHA:496693 http://purl.obolibrary.org/obo/MONDO_0044649 Gershoni-Baruch syndrome ordo_malformation_syndrome MONDO:0020678 sensorineural hearing loss disorder biolink:Disease mondo SCTID:60700002|NCIT:C26739|HP:0000407 Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). SNOMEDCT:60700002|NCIT:C26739 http://purl.obolibrary.org/obo/MONDO_0020678 neurosensory deafness|sensorineural hearing loss|sensorineural deafness|SNHL MONDO:0020677 sudden hearing loss disorder biolink:Disease mondo SCTID:79471008 SNOMEDCT:79471008 http://purl.obolibrary.org/obo/MONDO_0020677 MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome biolink:Disease mondo Orphanet:496689 ORPHA:496689 http://purl.obolibrary.org/obo/MONDO_0044648 kyphoscoliosis-lateral tongue atrophy-HSP syndrome ordo_disease MONDO:0030013 immunodeficiency 66 biolink:Disease mondo OMIM:618847 http://identifiers.org/omim/618847 http://purl.obolibrary.org/obo/MONDO_0030013 immunodeficiency 66|IMD66|IMMUNODEFICIENCY 66; IMD66 MONDO:0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease biolink:Disease mondo Orphanet:264949|UMLS:CN202347 ORPHA:264949|UMLS:CN202347 http://purl.obolibrary.org/obo/MONDO_0017035 secondary ILD in childhood and adulthood associated with a systemic disease ordo_group_of_disorders MONDO:0019698 bent bone dysplasia biolink:Disease mondo UMLS:C0432238|Orphanet:93439|SCTID:254095002|ICD9:756.59 UMLS:C0432238|ORPHA:93439|SNOMEDCT:254095002 http://purl.obolibrary.org/obo/MONDO_0019698 campomelic dysplasia and related disorders ordo_group_of_disorders HP:0002094 Dyspnea biolink:PhenotypicFeature mondo MSH:D004417|SNOMEDCT_US:267036007|UMLS:C0013404|SNOMEDCT_US:230145002 Difficult or labored breathing. http://purl.obolibrary.org/obo/HP_0002094 Difficult to breathe|Dyspnoea|Trouble breathing|Abnormal breathing|Breathing difficulty HGNC:20305 SLC34A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/20305 MONDO:0030012 Diets-Jongmans syndrome biolink:Disease mondo OMIM:618846 http://identifiers.org/omim/618846 http://purl.obolibrary.org/obo/MONDO_0030012 DIJOS|DIETS-JONGMANS SYNDROME; DIJOS|Intellectual Developmental Disorder With Distinctive Facial Dysmorphism|diets-jongmans syndrome MONDO:0032677 lissencephaly 9 with complex brainstem malformation biolink:Disease mondo OMIM:618325 http://identifiers.org/omim/618325 http://purl.obolibrary.org/obo/MONDO_0032677 LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9 MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia biolink:Disease mondo Orphanet:93438|UMLS:CN229208 UMLS:CN229208|ORPHA:93438 http://purl.obolibrary.org/obo/MONDO_0019697 ordo_group_of_disorders MONDO:0017036 Langerhans cell histiocytosis in childhood and adulthood biolink:Disease mondo Orphanet:264955 ORPHA:264955 http://purl.obolibrary.org/obo/MONDO_0017036 Langerhans cell granulomatosis in childhood and adulthood|histiocytosis X in childhood and adulthood ordo_group_of_disorders MONDO:0017037 secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease biolink:Disease mondo Orphanet:264968|UMLS:CN202348 ORPHA:264968|UMLS:CN202348 http://purl.obolibrary.org/obo/MONDO_0017037 secondary ILD in childhood and adulthood associated with a metabolic disease ordo_group_of_disorders MONDO:0030015 bone marrow failure syndrome 6 biolink:Disease mondo OMIM:618849 http://identifiers.org/omim/618849 http://purl.obolibrary.org/obo/MONDO_0030015 BMFS6|bone marrow failure syndrome 6|BONE MARROW FAILURE SYNDROME 6; BMFS6 MONDO:0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis biolink:Disease mondo UMLS:CN202349|Orphanet:264973 ORPHA:264973|UMLS:CN202349 http://purl.obolibrary.org/obo/MONDO_0017038 secondary ILD in childhood and adulthood associated with a systemic vasculitis ordo_group_of_disorders HP:0002093 Respiratory insufficiency biolink:PhenotypicFeature mondo UMLS:C4020855|SNOMEDCT_US:409623005|UMLS:C0035229|MSH:D012131 http://purl.obolibrary.org/obo/HP_0002093 Respiratory function loss|progressive respiratory failure|Respiratory impairment MONDO:0030014 muscular dystrophy, limb-girdle, autosomal recessive 26 biolink:Disease mondo OMIM:618848 http://identifiers.org/omim/618848 http://purl.obolibrary.org/obo/MONDO_0030014 muscular dystrophy, limb-girdle, autosomal recessive 26|LGMDR26|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 MONDO:0019699 slender bone dysplasia biolink:Disease mondo Orphanet:93440 ORPHA:93440 http://purl.obolibrary.org/obo/MONDO_0019699 ordo_group_of_disorders MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic biolink:Disease mondo OMIM:618323 http://identifiers.org/omim/618323 http://purl.obolibrary.org/obo/MONDO_0032675 MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC; CMS25 MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies biolink:Disease mondo OMIM:618316 http://identifiers.org/omim/618316 http://purl.obolibrary.org/obo/MONDO_0032672 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF MONDO:0017031 primary interstitial lung disease in childhood and adulthood biolink:Disease mondo UMLS:CN202342|Orphanet:264762 ORPHA:264762|UMLS:CN202342 http://purl.obolibrary.org/obo/MONDO_0017031 primary ILD in childhood and adulthood ordo_group_of_disorders HP:0002098 Respiratory distress biolink:PhenotypicFeature mondo UMLS:C0476273|MSH:D004417|SNOMEDCT_US:267036007|SNOMEDCT_US:271825005|UMLS:C0013404|SNOMEDCT_US:230145002 Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. http://purl.obolibrary.org/obo/HP_0002098 Short of breath|Difficulty breathing|Respiratory difficulties|Breathing difficulties|Shortness of breath MONDO:0019694 spondylodysplastic dysplasia biolink:Disease mondo Orphanet:93434 ORPHA:93434 http://purl.obolibrary.org/obo/MONDO_0019694 ordo_group_of_disorders MONDO:0019693 multiple metaphyseal dysplasia biolink:Disease mondo ICD10:Q78.5|Orphanet:93430 ORPHA:93430 http://purl.obolibrary.org/obo/MONDO_0019693 ordo_group_of_disorders HP:0002099 Asthma biolink:PhenotypicFeature mondo SNOMEDCT_US:991000119106|UMLS:C3714497|MSH:D001249|UMLS:C0004096|SNOMEDCT_US:195967001 Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. http://purl.obolibrary.org/obo/HP_0002099 Bronchial asthma|Reactive airway disease|Asthma MONDO:0017032 primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder biolink:Disease mondo Orphanet:264930|UMLS:CN202344 ORPHA:264930|UMLS:CN202344 http://purl.obolibrary.org/obo/MONDO_0017032 primary ILD in childhood and adulthood due to alveolar structure disorder ordo_group_of_disorders MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive biolink:Disease mondo OMIM:618317 http://identifiers.org/omim/618317 http://purl.obolibrary.org/obo/MONDO_0032673 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE; IBGC7 HGNC:10990 SLC25A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/10990 MONDO:0019696 acromesomelic dysplasia biolink:Disease mondo Orphanet:93437|MESH:C535658|DOID:0080049|GARD:0000006 Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type MESH:C535658|ORPHA:93437|DOID:0080049|UMLS:C0265278 http://purl.obolibrary.org/obo/MONDO_0019696 acromesomelic dwarfism ordo_group_of_disorders|gard_rare MONDO:0017033 primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder biolink:Disease mondo Orphanet:264935|UMLS:CN202345 ORPHA:264935|UMLS:CN202345 http://purl.obolibrary.org/obo/MONDO_0017033 primary ILD in childhood and adulthood due to alveolar vascular disorder ordo_group_of_disorders MONDO:0032670 Diamond-Blackfan anemia 20 biolink:Disease mondo OMIM:618313 http://identifiers.org/omim/618313 http://purl.obolibrary.org/obo/MONDO_0032670 DIAMOND-BLACKFAN ANEMIA 20; DBA20 HGNC:19321 NKX6-2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19321 MONDO:0019695 acromelic dysplasia biolink:Disease mondo ICD10:Q74.8|Orphanet:93436 ORPHA:93436 http://purl.obolibrary.org/obo/MONDO_0019695 ordo_group_of_disorders MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia biolink:Disease mondo OMIM:618841 http://identifiers.org/omim/618841 http://purl.obolibrary.org/obo/MONDO_0030010 hypogonadotropic hypogonadism 25 with anosmia|HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25|HH25 MONDO:0017034 secondary interstitial lung disease in childhood and adulthood biolink:Disease mondo Orphanet:264944|UMLS:CN202346 ORPHA:264944|UMLS:CN202346 http://purl.obolibrary.org/obo/MONDO_0017034 secondary ILD in childhood and adulthood ordo_group_of_disorders HGNC:19331 MMAB biolink:OntologyClass mondo http://identifiers.org/hgnc/19331 MONDO:0019681 juvenile sialidosis type 2 biolink:Disease mondo SCTID:111383007|ICD10:E77.1|UMLS:C0268229|UMLS:CN206605|Orphanet:93399 UMLS:CN206605|ORPHA:93399|UMLS:C0268229|SNOMEDCT:111383007 http://purl.obolibrary.org/obo/MONDO_0019681 dysmorphic sialidosis, juvenile form ordo_clinical_subtype MONDO:0019680 genochondromatosis type 2 biolink:Disease mondo SCTID:725904009|UMLS:CN206604|Orphanet:93398|UMLS:C4511481 Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. UMLS:CN206604|UMLS:C4511481|ORPHA:93398|SNOMEDCT:725904009 http://purl.obolibrary.org/obo/MONDO_0019680 ordo_disease HGNC:22986 COL27A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/22986 MONDO:0030017 combined oxidative phosphorylation deficiency 43 biolink:Disease mondo OMIM:618851 http://identifiers.org/omim/618851 http://purl.obolibrary.org/obo/MONDO_0030017 combined oxidative phosphorylation deficiency 43|COXPD43|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43 HGNC:20323 SMOC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/20323 MONDO:0030016 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0030016 HGNC:20324 TGDS biolink:OntologyClass mondo http://identifiers.org/hgnc/20324 MONDO:0032678 developmental and epileptic encephalopathy, 71 biolink:Disease mondo OMIM:618328 http://identifiers.org/omim/618328 http://purl.obolibrary.org/obo/MONDO_0032678 epileptic encephalopathy, early infantile, 71|Glutaminase Deficiency With Neonatal Epileptic Encephalopathy|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71; EIEE71|DEE71 MONDO:0030019 anauxetic dysplasia 3 biolink:Disease mondo OMIM:618853 http://identifiers.org/omim/618853 http://purl.obolibrary.org/obo/MONDO_0030019 anauxetic dysplasia 3|ANXD3|ANAUXETIC DYSPLASIA 3; ANXD3 MONDO:0032679 combined oxidative phosphorylation deficiency 37 biolink:Disease mondo OMIM:618329 http://identifiers.org/omim/618329 http://purl.obolibrary.org/obo/MONDO_0032679 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 MONDO:0030018 autoinflammation with episodic fever and lymphadenopathy biolink:Disease mondo OMIM:618852 http://identifiers.org/omim/618852 http://purl.obolibrary.org/obo/MONDO_0030018 Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome|autoinflammation with episodic fever and lymphadenopathy|AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL|AIEFL|Cria Syndrome MONDO:0005057 large cell neuroendocrine carcinoma biolink:Disease mondo UMLS:C1265996|ICDO:8013/3|ONCOTREE:LUNE|NCIT:C6875|DOID:0050872|EFO:0000563 A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas. DOID:0050872|UMLS:C1265996|NCIT:C6875 http://purl.obolibrary.org/obo/MONDO_0005057 large cell NEC|LCNEC|large-cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma MONDO:0020676 disease of central nervous system or retinal vasculature biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020676 central nervous system or retinal vascular disease|retina/CNS vascular disease MONDO:0029001 chemically-induced disorder biolink:Disease mondo MESH:D064419 Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. MESH:D064419 http://purl.obolibrary.org/obo/MONDO_0029001 chemically-induced disorder|disorders, chemically-induced|disorder, chemically-induced|chemically induced disorders MONDO:0005056 keratinizing squamous cell carcinoma biolink:Disease mondo UMLS:C0334247|DOID:5521|EFO:0000559|ICDO:8071/3|NCIT:C4105 Squamous cell carcinomas with morphologically prominent production of keratin. NCIT:C4105|UMLS:C0334247|DOID:5521 http://purl.obolibrary.org/obo/MONDO_0005056 keratinizing epidermoid carcinoma|squamous cell carcinoma, keratinizing|keratinizing squamous cell carcinoma|squamous cell carcinoma, keratinizing (morphologic abnormality) MONDO:0020675 ischemic bowel disease biolink:Disease mondo NCIT:C35212 Disease of the large or small intestine that is caused by inadequate blood supply. NCIT:C35212 http://purl.obolibrary.org/obo/MONDO_0020675 ischemic bowel disease MONDO:0005059 leukemia (disease) biolink:Disease mondo UMLS:C0023418|ICD10:C95|ICD10:C95.9|ICD9:208|HP:0001909|NCIT:C3161|ICD9:207|ICDO:9800/3|ICD10:C95.90|MESH:D007938|SCTID:93143009|ICD9:208.90|ICD9:208.9|ICD9:208.8|ICD9:207.80|ICD9:207.8|DOID:1240|EFO:0000565|ICD9:208.80 A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. UMLS:C0023418|MESH:D007938|DOID:1240|NCIT:C3161|SNOMEDCT:93143009 http://purl.obolibrary.org/obo/MONDO_0005059 leukemia NOS|leukemia, malignant|leukemia, NOS|leukemia, disease|blood (leukemia)|leukemias|leukemia|leukemias, general MONDO:0029000 poisoning biolink:Disease mondo UMLS:C0302332|MESH:D011041|EFO:0008546|SCTID:75478009 A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. SNOMEDCT:75478009|MESH:D011041|UMLS:C0302332 http://purl.obolibrary.org/obo/MONDO_0029000 intoxication|Poisonings|poisoning syndrome MONDO:0020674 vascular insufficiency disorder biolink:Disease mondo SCTID:86341008 SNOMEDCT:86341008 http://purl.obolibrary.org/obo/MONDO_0020674 vascular insufficiency MONDO:0020673 arterial occlusion biolink:Disease mondo NCIT:C35318 Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart. NCIT:C35318 http://purl.obolibrary.org/obo/MONDO_0020673 arterial obstruction|arterial occlusion MONDO:0005058 leiomyosarcoma biolink:Disease mondo DOID:1967|Orphanet:64720|ICD10:C49.9|ONCOTREE:LMS|MESH:D007890|ICDO:8890/3|GARD:0006880|ICD9:171.9|SCTID:443719001|UMLS:C0023269|NCIT:C3158|EFO:0000564|MedDRA:10024189 An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. SNOMEDCT:443719001|UMLS:C0023269|MESH:D007890|DOID:1967|ORPHA:64720|NCIT:C3158|MEDDRA:10024189 http://purl.obolibrary.org/obo/MONDO_0005058 leiomyosarcoma - not uterine|leiomyosarcoma|leiomyosarcoma (excluding uterine leiomyosarcoma)|leiomyosarcoma, malignant|Leiomyosarcomas gard_rare|ordo_disease MONDO:0005053 ischemic disease biolink:Disease mondo MESH:D007511|DOID:326|SCTID:52674009|EFO:0000556|NCIT:C34738 Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation. SNOMEDCT:52674009|DOID:326|NCIT:C34738|MESH:D007511 http://purl.obolibrary.org/obo/MONDO_0005053 ischemia MONDO:0020672 vascular occlusion disorder biolink:Disease mondo A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot. http://purl.obolibrary.org/obo/MONDO_0020672 vascular occlusion MONDO:0020671 susceptibility to ischemic stroke biolink:Disease mondo OMIM:601367 http://identifiers.org/omim/601367 http://purl.obolibrary.org/obo/MONDO_0020671 stroke, ischemic|cerebral infarction|cerebrovascular accident predisposition MONDO:0044660 menstrual cycle-dependent periodic fever biolink:Disease mondo OMIM:614674|Orphanet:498251|UMLS:C3553418 http://identifiers.org/omim/614674|UMLS:C3553418|ORPHA:498251 http://purl.obolibrary.org/obo/MONDO_0044660 periodic fever, menstrual cycle-dependent|menstrual cycle-dependent febrile episode|luteal-phase-dependent periodic fever|luteal-phase-dependent febrile episode ordo_disease MONDO:0005052 irritable bowel syndrome biolink:Disease mondo UMLS:C0022104|ICD10:K58|ICD9:564.1|MESH:D043183|ICD10:K58.9|DOID:9778|NCIT:C82343|EFO:0000555|SCTID:10743008|COHD:75576 Gastrointestinal symptoms characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause. UMLS:C0022104|DOID:9778|NCIT:C82343|MESH:D043183|SNOMEDCT:10743008 http://purl.obolibrary.org/obo/MONDO_0005052 psychogenic IBS|IBD|irritable bowel syndrome|IBS|irritable colon|mucus colitis|spastic colon MONDO:0005055 Kaposi's sarcoma (disease) biolink:Disease mondo ICD10:C46.2|MedDRA:10023284|ICD10:C46.1|ICD10:C46.0|ICD9:176|NCIT:C9087|MESH:D012514|ICD9:176.8|COHD:434584|Orphanet:33276|DOID:8632|EFO:0000558|GARD:0006814|ICD10:C46.9|ICD10:C46.8|ICD10:C46.7|HP:0100726|ICD9:176.9|ICDO:9140/3|SCTID:109385007|ICD10:C46.3 A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). DOID:8632|ORPHA:33276|SNOMEDCT:109385007|MEDDRA:10023284|NCIT:C9087|UMLS:C0036220|MESH:D012514 http://purl.obolibrary.org/obo/MONDO_0005055 Kaposi's sarcoma of the gallbladder|HHV8|Kaposi's sarcoma of the prostate|prostate Kaposi's sarcoma|Kaposi's sarcoma of soft tissues|Kaposi's sarcoma of lymph nodes|Kaposi's sarcoma of palate|Kaposi's sarcoma-associated herpesvirus (KSHV)|Kaposi's sarcoma of the CNS|cutaneous Kaposi's sarcoma|intestinal Kaposi's sarcoma|palate Kaposi's sarcoma|Kaposi sarcoma herpesvirus|corneal Kaposi's sarcoma|anal Kaposi's sarcoma|central nervous system Kaposi's sarcoma|Kaposi's sarcoma of heart|Kaposi's sarcoma of cornea|conjunctival Kaposi's sarcoma|Kaposi's sarcoma of skin|gallbladder Kaposi's sarcoma|lymph node Kaposi's sarcoma|Kaposi's sarcoma, lung|Kaposi's sarcoma of soft tissue|lymphadenopathic Kaposi's sarcoma|soft tissue Kaposi's sarcoma|Kaposi's sarcoma of lung|cardiac Kaposi's sarcoma|Kaposi's sarcoma of anus|Kaposi's sarcoma of gastrointestinal sites|Kaposi's sarcoma of penis|multiple hemorrhagic sarcoma|Kaposi sarcoma|Kaposi's sarcoma, skin|Kaposi's sarcoma of central nervous system|KSHV|African lymphadenopathic Kaposi's sarcoma|non AIDS related Kaposi sarcoma|gastric Kaposi's sarcoma|KS|esophageal Kaposi's sarcoma|Kaposi's sarcoma|human herpesvirus 8|Kaposi's sarcoma of esophagus|Mediterranean Kaposi sarcoma|pulmonary Kaposi's sarcoma|penis Kaposi's sarcoma|Kaposi's sarcoma of conjunctiva ordo_disease MONDO:0020670 antithrombin deficiency type 2 biolink:Disease mondo GARD:0010182|MESH:C537779 MESH:C537779 http://purl.obolibrary.org/obo/MONDO_0020670 antithrombin deficiency type 2|Inherited antithrombin deficiency type II|antithrombmin III deficiency Type II gard_rare MONDO:0044663 aquagenic palmoplantar keratoderma biolink:Disease mondo Orphanet:498359|GARD:0012991 Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis. ORPHA:498359 http://purl.obolibrary.org/obo/MONDO_0044663 aquagenic syringeal acrokeratoderma|aquagenic palmoplantar keratoderma|aquagenic wrinkling of the palms|transient reactive papulotranslucent acrokeratoderma|Transient reactive papulotranslucent acrokeratoderma|aquagenic keratoderma|aquagenic wrinkling of the hands gard_rare|ordo_disease MONDO:0005054 obsolete juvenile dermatomyositis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005054 MONDO:0032680 global developmental delay with or without impaired intellectual development biolink:Disease mondo OMIM:618330 http://identifiers.org/omim/618330 http://purl.obolibrary.org/obo/MONDO_0032680 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; GDDI MONDO:0005051 invasive lobular breast carcinoma biolink:Disease mondo UMLS:C0279565|ONCOTREE:ILC|DOID:3457|NCIT:C7950|EFO:0000553|UMLS:C0206692 An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures. NCIT:C7950|UMLS:C0279565|UMLS:C0206692|DOID:3457 http://purl.obolibrary.org/obo/MONDO_0005051 breast invasive lobular carcinoma|invasive lobular breast carcinoma|invasive lobular adenocarcinoma|invasive lobular carcinoma of the breast|lobular carcinoma NOS (morphologic abnormality)|lobular carcinoma of the breast|lobular carcinoma (morphologic abnormality)|invasive lobular carcinoma|infiltrating lobular carcinoma of breast|classic invasive lobular carcinoma|infiltrating lobular adenocarcinoma|infiltrating lobular breast carcinoma|infiltrating lobular carcinoma of the breast|invasive lobular carcinoma, classic type|lobular carcinoma of breast|lobular carcinoma|invasive lobular carcinoma of breast MONDO:0005050 invasive ductal and lobular carcinoma biolink:Disease mondo UMLS:C1334277|NCIT:C7688|EFO:0000552|ICDO:8522/3 An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive. UMLS:C1334277|NCIT:C7688 http://purl.obolibrary.org/obo/MONDO_0005050 infiltrating ductal and lobular carcinoma|invasive duct and lobular carcinoma|invasive ductal and lobular carcinoma MONDO:0020669 paranasal sinus cancer biolink:Disease mondo NCIT:C7487 A primary or metastatic malignant neoplasm involving the paranasal sinuses. NCIT:C7487 http://purl.obolibrary.org/obo/MONDO_0020669 malignant neoplasm of the paranasal sinus|malignant tumor of accessory sinus|malignant accessory sinus neoplasm|malignant neoplasm of paranasal sinus|malignant paranasal sinus tumor|malignant tumor of the paranasal sinus|malignant tumor of paranasal sinus|malignant neoplasm of the accessory sinus|malignant paranasal sinus neoplasm|malignant neoplasm of accessory sinus|malignant accessory sinus tumor|malignant tumor of the accessory sinus MONDO:0017028 secondary interstitial lung disease specific to adulthood associated with a systemic disease biolink:Disease mondo UMLS:CN202340|Orphanet:264745 ORPHA:264745|UMLS:CN202340 http://purl.obolibrary.org/obo/MONDO_0017028 secondary ILD specific to adulthood associated with a systemic disease ordo_group_of_disorders MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 biolink:Disease mondo Orphanet:497757 ORPHA:497757 http://purl.obolibrary.org/obo/MONDO_0044657 MME-related autosomal dominant CMT2|MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 ordo_disease MONDO:0020668 obsolete spastic paraplegia 5B biolink:Disease mondo OMIM:600146|GARD:0004917 http://identifiers.org/omim/600146 http://purl.obolibrary.org/obo/MONDO_0020668 moved to 270800|SPG5B gard_rare MONDO:0017029 Langerhans cell histiocytosis specific to adulthood biolink:Disease mondo Orphanet:264750|NCIT:C114929|UMLS:C3900100 Langerhans cell histiocytosis that occurs during adulthood. NCIT:C114929|ORPHA:264750|UMLS:C3900100 http://purl.obolibrary.org/obo/MONDO_0017029 Langerhans cell granulomatosis specific to adulthood|Langerhans cell histiocytosis|histiocytosis X specific to adulthood|adult Langerhans cell histiocytosis ordo_group_of_disorders MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis biolink:Disease mondo OMIM:207410 http://identifiers.org/omim/207410 http://purl.obolibrary.org/obo/MONDO_0020667 ABS2|trapezoidocephaly-synostosis Syndrome|multisynostotic osteodysgenesis with long bone fractures|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; ABS2|osteodysgenesis, multisynostotic, with fractures MONDO:0020666 Löfgren syndrome biolink:Disease mondo SCTID:238676008 A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain. SNOMEDCT:238676008 http://purl.obolibrary.org/obo/MONDO_0020666 Loefgrens syndrome|Löfgrens syndrome MONDO:0019687 type 11 collagen-related bone disorder biolink:Disease mondo UMLS:CN227673|Orphanet:93422 ORPHA:93422|UMLS:CN227673 http://purl.obolibrary.org/obo/MONDO_0019687 ordo_group_of_disorders MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature biolink:Disease mondo OMIM:618342 http://identifiers.org/omim/618342 http://purl.obolibrary.org/obo/MONDO_0032687 INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE; IDDABS MONDO:0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities biolink:Disease mondo OMIM:618859 http://identifiers.org/omim/618859 http://purl.obolibrary.org/obo/MONDO_0030024 NEDASB|NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES; NEDASB|neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities MONDO:0017024 secondary interstitial lung disease specific to childhood associated with a metabolic disease biolink:Disease mondo Orphanet:264719|UMLS:CN202337 ORPHA:264719|UMLS:CN202337 http://purl.obolibrary.org/obo/MONDO_0017024 secondary ILD specific to childhood associated with a metabolic disease ordo_group_of_disorders MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome biolink:Disease mondo OMIM:618343 http://identifiers.org/omim/618343 http://purl.obolibrary.org/obo/MONDO_0032688 POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME; PMGEDSV MONDO:0017025 Langerhans cell histiocytosis specific to childhood biolink:Disease mondo NCIT:C114483|Orphanet:264724|UMLS:C3899655 Langerhans cell histiocytosis that occurs during childhood. UMLS:C3899655|NCIT:C114483|ORPHA:264724 http://purl.obolibrary.org/obo/MONDO_0017025 Langerhans cell granulomatosis specific to childhood|Langerhans cell histiocytosis|histiocytosis X specific to childhood|childhood Langerhans cell histiocytosis ordo_group_of_disorders MONDO:0019686 type 2 collagen-related bone disorder biolink:Disease mondo UMLS:CN227672|Orphanet:93421 ORPHA:93421|UMLS:CN227672 http://purl.obolibrary.org/obo/MONDO_0019686 ordo_group_of_disorders MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development biolink:Disease mondo OMIM:618339 http://identifiers.org/omim/618339 http://purl.obolibrary.org/obo/MONDO_0032685 INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CASGID MONDO:0017026 interstitial lung disease specific to adulthood biolink:Disease mondo Orphanet:264735|UMLS:CN202338 ORPHA:264735|UMLS:CN202338 http://purl.obolibrary.org/obo/MONDO_0017026 ILD specific to adulthood ordo_group_of_disorders NCBITaxon:548681 Herpesvirales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_548681 MONDO:0030026 retinal dystrophy with leukodystrophy biolink:Disease mondo OMIM:618863 http://identifiers.org/omim/618863 http://purl.obolibrary.org/obo/MONDO_0030026 RDLKD|retinal dystrophy with leukodystrophy|RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD MONDO:0019689 perlecan-related bone disorder biolink:Disease mondo UMLS:CN227675|Orphanet:93424 ORPHA:93424|UMLS:CN227675 http://purl.obolibrary.org/obo/MONDO_0019689 ordo_group_of_disorders HGNC:20318 SMOC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20318 MONDO:0019688 sulfation-related bone disorder biolink:Disease mondo UMLS:CN227674|Orphanet:93423 ORPHA:93423|UMLS:CN227674 http://purl.obolibrary.org/obo/MONDO_0019688 ordo_group_of_disorders MONDO:0032686 spermatogenic failure 35 biolink:Disease mondo OMIM:618341 http://identifiers.org/omim/618341 http://purl.obolibrary.org/obo/MONDO_0032686 SPERMATOGENIC FAILURE 35; SPGF35 MONDO:0017027 primary interstitial lung disease specific to adulthood biolink:Disease mondo Orphanet:264740|UMLS:CN202339 ORPHA:264740|UMLS:CN202339 http://purl.obolibrary.org/obo/MONDO_0017027 primary ILD specific to adulthood ordo_group_of_disorders MONDO:0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures biolink:Disease mondo OMIM:618862 http://identifiers.org/omim/618862 http://purl.obolibrary.org/obo/MONDO_0030025 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS|neurodevelopmental disorder with hypotonia, microcephaly, and seizures|NEDHYMS MONDO:0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease biolink:Disease mondo UMLS:CN202333|Orphanet:264699 ORPHA:264699|UMLS:CN202333 http://purl.obolibrary.org/obo/MONDO_0017020 secondary ILD specific to childhood associated with a systemic disease ordo_group_of_disorders MONDO:0030020 combined oxidative phosphorylation deficiency 44 biolink:Disease mondo OMIM:618855 http://identifiers.org/omim/618855 http://purl.obolibrary.org/obo/MONDO_0030020 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44|COXPD44|combined oxidative phosphorylation deficiency 44 MONDO:0019683 syndactyly type 2 biolink:Disease mondo ICD10:Q70.2|ICD10:Q70.0|GARD:0005087|SCTID:715724002|Orphanet:93403 Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly. UMLS:C2699746|SNOMEDCT:715724002|ORPHA:93403 http://purl.obolibrary.org/obo/MONDO_0019683 synpolydactyly|SPD ordo_morphological_anomaly|gard_rare MONDO:0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease biolink:Disease mondo Orphanet:264704|UMLS:CN202334 ORPHA:264704|UMLS:CN202334 http://purl.obolibrary.org/obo/MONDO_0017021 secondary ILD specific to childhood associated with a connective tissue disease ordo_group_of_disorders MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency biolink:Disease mondo OMIM:618336 http://identifiers.org/omim/618336 http://purl.obolibrary.org/obo/MONDO_0032684 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY; IMAGEI|Imagei Syndrome MONDO:0019682 congenital sialidosis type 2 biolink:Disease mondo ICD10:E77.1|Orphanet:93400 ORPHA:93400 http://purl.obolibrary.org/obo/MONDO_0019682 ordo_clinical_subtype MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis biolink:Disease mondo OMIM:618331 http://identifiers.org/omim/618331 http://purl.obolibrary.org/obo/MONDO_0032681 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS; PEERB MONDO:0019685 FGFR3-related chondrodysplasia biolink:Disease mondo Orphanet:93420 ORPHA:93420 http://purl.obolibrary.org/obo/MONDO_0019685 ordo_group_of_disorders MONDO:0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis biolink:Disease mondo Orphanet:264709|UMLS:CN202335 ORPHA:264709|UMLS:CN202335 http://purl.obolibrary.org/obo/MONDO_0017022 secondary ILD specific to childhood associated with a systemic vasculitis ordo_group_of_disorders MONDO:0017023 secondary interstitial lung disease specific to childhood associated with a granulomatous disease biolink:Disease mondo Orphanet:264714|UMLS:CN202336 ORPHA:264714|UMLS:CN202336 http://purl.obolibrary.org/obo/MONDO_0017023 secondary ILD specific to childhood associated with a granulomatous disease ordo_group_of_disorders MONDO:0019684 obsolete rare bone disease biolink:Disease mondo Orphanet:93419|UMLS:CN206613 Rare bone disease. UMLS:CN206613|ORPHA:93419 http://purl.obolibrary.org/obo/MONDO_0019684 rare bone disease ordo_group_of_disorders|obsoletion_candidate HP:0100303 Muscle fiber cytoplasmatic inclusion bodies biolink:PhenotypicFeature mondo UMLS:C4022157 The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. http://purl.obolibrary.org/obo/HP_0100303 Muscle fibre cytoplasmatic inclusion bodies|Muscle fiber cytoplasmic bodies MONDO:0019670 ulnar hemimelia biolink:Disease mondo Orphanet:93320|ICD10:Q71.5|SCTID:21893008|ICD9:755.59 Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone. SNOMEDCT:21893008|ORPHA:93320 http://purl.obolibrary.org/obo/MONDO_0019670 ulnar clubhand|congenital longitudinal deficiency of the ulna|ulnar longitudinal meromelia ordo_morphological_anomaly MONDO:0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline biolink:Disease mondo OMIM:618868 http://identifiers.org/omim/618868 http://purl.obolibrary.org/obo/MONDO_0030028 NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC|CONATOC|neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline MONDO:0005028 esophageal adenocarcinoma biolink:Disease mondo ICD10:C15.5|EFO:0000478|ICD10:C15.2|Orphanet:99976|DOID:4914|UMLS:C0279628|SCTID:276803003|ONCOTREE:ESCA|NCIT:C4025 A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor. UMLS:C0279628|SNOMEDCT:276803003|ORPHA:99976|DOID:4914|NCIT:C4025 http://purl.obolibrary.org/obo/MONDO_0005028 adenocarcinoma of the esophagus|oesophageal adenocarcinoma NOS|oesophageal adenocarcinoma|esophagus adenocarcinoma|adenocarcinoma - esophagus|adenocarcinoma of esophagus|adenocarcinoma of esophagus|esophageal adenocarcinoma ordo_disease MONDO:0005027 epilepsy biolink:Disease mondo ICD9:345.9|ICD9:345.8|ICD10:G40.9|EFO:0000474|SCTID:84757009|ICD9:345.90|ICD10:G40|NCIT:C3020|ICD9:345.91|DOID:1826|ICD10:G40.909|ICD9:345.80|MESH:D004827|ICD9:345|COHD:380378|NIFSTD:birnlex_12718 A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. SNOMEDCT:84757009|DOID:1826|NCIT:C3020|MESH:D004827 http://purl.obolibrary.org/obo/MONDO_0005027 epileptic syndrome|seizure disorder|epilepsy syndrome MONDO:0030027 tremor, hereditary essential, 6 biolink:Disease mondo OMIM:618866 http://identifiers.org/omim/618866 http://purl.obolibrary.org/obo/MONDO_0030027 ETM6|tremor, hereditary essential, 6|TREMOR, HEREDITARY ESSENTIAL, 6; ETM6 MONDO:0007689 guanylate kinase 3 biolink:Disease mondo OMIM:139290 http://identifiers.org/omim/139290 http://purl.obolibrary.org/obo/MONDO_0007689 GUK3|guanylate KINASE 3; GUK3|guanylate kinase type 3|guanylate kinase 3 MONDO:0032689 retinitis pigmentosa 85 biolink:Disease mondo OMIM:618345 http://identifiers.org/omim/618345 http://purl.obolibrary.org/obo/MONDO_0032689 RETINITIS PIGMENTOSA 85; RP85 MONDO:0005029 essential thrombocythemia biolink:Disease mondo SCTID:109994006|EFO:0000479|COHD:438383|MESH:D013920|MedDRA:10015493|ICD10:D47.3|UMLS:C0040028|NCIT:C3407|ICD9:238.71|ONCOTREE:ET|Orphanet:3318|DOID:2224|GARD:0006594|ICDO:9962/3 A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) ORPHA:3318|MESH:D013920|UMLS:C0040028|DOID:2224|MEDDRA:10015493|SNOMEDCT:109994006|NCIT:C3407 http://purl.obolibrary.org/obo/MONDO_0005029 ET|essential thrombocythemia|primary thrombocytosis|hereditary thrombocythemia|idiopathic thrombocythemia|essential thrombocythaemia|primary thrombocythemia|familial thrombocytosis|essential thrombocytemia|hemorrhagic thrombocythemia|essential thrombocytosis ordo_disease|gard_rare MONDO:0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age biolink:Disease mondo OMIM:618870 http://identifiers.org/omim/618870 http://purl.obolibrary.org/obo/MONDO_0030029 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA|SDJLABA|skeletal dysplasia, mild, with joint laxity and advanced bone age HGNC:22954 POGLUT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/22954 HGNC:10968 SLC22A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/10968 MONDO:0020665 high grade malignant neoplasm biolink:Disease mondo NCIT:C36046 NCIT:C36046 http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm MONDO:0007687 graying of hair, precocious biolink:Disease mondo OMIM:139100|UMLS:C1841809|MESH:C564209 MESH:C564209|UMLS:C1841809|http://identifiers.org/omim/139100 http://purl.obolibrary.org/obo/MONDO_0007687 White hair, premature|graying of hair, precocious MONDO:0005024 obsolete emphysema biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005024 MONDO:0005023 ductal breast carcinoma in situ biolink:Disease mondo NCIT:C2924|EFO:0000432|ICD9:233.0|DOID:0060074|MESH:D002285|ICDO:8500/2|ONCOTREE:DCIS A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. NCIT:C2924|DOID:0060074|MESH:D002285 http://purl.obolibrary.org/obo/MONDO_0005023 non-infiltrating ductal adenocarcinoma of breast|non-invasive intraductal adenocarcinoma of breast|carcinoma in situ of mammary duct|non-invasive intraductal adenocarcinoma of the breast|ductal breast carcinoma in situ|non-infiltrating ductal adenocarcinoma of the breast|intraductal breast carcinoma|intraductal carcinoma of breast|mammary duct carcinoma in situ|non-infiltrating ductal breast adenocarcinoma|non-invasive intraductal breast adenocarcinoma|intraductal carcinoma of the breast|ductal carcinoma in situ|non-invasive ductal carcinoma of breast|non-invasive ductal carcinoma of the breast|non-infiltrating ductal breast carcinoma|non-invasive ductal adenocarcinoma of breast|intraductal carcinoma|non-infiltrating intraductal adenocarcinoma of breast|ductal carcinoma in situ (DCIS)|stage 0 mammary duct carcinoma|non-invasive ductal adenocarcinoma of the breast|non-infiltrating intraductal adenocarcinoma of the breast|non-infiltrating intraductal breast adenocarcinoma|non-infiltrating intraductal carcinoma|non-invasive ductal breast adenocarcinoma|non-infiltrating ductal carcinoma of breast|ductal carcinoma in situ of breast|non-infiltrating ductal carcinoma of the breast|breast ductal carcinoma in situ|non-infiltrating intraductal adenocarcinoma|non-invasive ductal breast carcinoma|DCIS|mammary duct in situ carcinoma|ductal carcinoma in situ of the breast MONDO:0020664 spindle cell neoplasm biolink:Disease mondo NCIT:C27263|EFO:0000705 A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells. NCIT:C27263 http://purl.obolibrary.org/obo/MONDO_0020664 spindle cell tumor|spindle cell neoplasm MONDO:0007688 Myhre syndrome biolink:Disease mondo SCTID:699316006|OMIM:139210|UMLS:C0796081|Orphanet:2588|NCIT:C123815|ICD10:Q87.8|MESH:C537620|ICD9:759.89|GARD:0002572 Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients. ORPHA:2588|MESH:C537620|SNOMEDCT:699316006|UMLS:C0796081|http://identifiers.org/omim/139210|NCIT:C123815 http://purl.obolibrary.org/obo/MONDO_0007688 MYHRS|MYHRE syndrome; MYHRS|Myhre syndrome|facial dysmorphism - intellectual deficit - short stature - hearing loss|Growth-mental deficiency syndrome of Myhre|Growth mental deficiency syndrome of Myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome|laryngotracheal stenosis, arthropathy, prognathism, and short stature|LAPS syndrome ordo_malformation_syndrome|gard_rare MONDO:0044675 LRP5-related primary osteoporosis biolink:Disease mondo Orphanet:498481 ORPHA:498481 http://purl.obolibrary.org/obo/MONDO_0044675 ordo_malformation_syndrome HGNC:10969 SLC22A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/10969 MONDO:0005026 endometrioid adenocarcinoma biolink:Disease mondo NCIT:C3769|EFO:0000466|UMLS:C0206687|ICDO:8380/3|UMLS:C1569637 An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament. UMLS:C1569637|UMLS:C0206687|NCIT:C3769 http://purl.obolibrary.org/obo/MONDO_0005026 endometrioid carcinoma of female reproductive system|endometrioid adenocarcinoma|endometrioid carcinoma of the female reproductive system|female reproductive endometrioid carcinoma|endometrioid carcinoma MONDO:0020663 malignant spindle cell neoplasm biolink:Disease mondo NCIT:C27091 A malignant neoplasm characterized by the presence of atypical spindle cells. NCIT:C27091 http://purl.obolibrary.org/obo/MONDO_0020663 malignant spindle cell neoplasm|spindle cell cancer|malignant spindle cell tumor MONDO:0007685 granulosis rubra nasi biolink:Disease mondo MESH:C562483|UMLS:C0263471|OMIM:139000|ICD9:705.89|SCTID:22818000 SNOMEDCT:22818000|UMLS:C0263471|MESH:C562483|http://identifiers.org/omim/139000 http://purl.obolibrary.org/obo/MONDO_0007685 granulosis rubra nasi MONDO:0007686 gray platelet syndrome biolink:Disease mondo UMLS:C0272302|SCTID:51720005|MESH:D055652|OMIM:139090|ICD10:D69.1|UMLS:CN205641|GARD:0002562|NCIT:C84741|UMLS:C2717750|DOID:0111044|Orphanet:721 Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. MESH:D055652|DOID:0111044|ORPHA:721|UMLS:C2717750|UMLS:CN205641|http://identifiers.org/omim/139090|NCIT:C84741|UMLS:C0272302|SNOMEDCT:51720005 http://purl.obolibrary.org/obo/MONDO_0007686 platelet alpha-granule deficiency|bleeding disorder, Platelet-type, 4|grey platelet syndrome|marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins|gray platelet syndrome; GPS|GPS|Alpha storage pool deficiency|platelet-type bleeding disorder 4|gray platelet syndrome|BDPLT4 ordo_disease|gard_rare MONDO:0005025 endocarditis (disease) biolink:Disease mondo DOID:10314|ICD10:I33.9|COHD:441589|EFO:0000465|ICD9:421.9|ICD9:424.99|MESH:D004696|NCIT:C34582|HP:0100584|SCTID:56819008 Inflammation of the endocardium. NCIT:C34582|SNOMEDCT:56819008|DOID:10314|MESH:D004696 http://purl.obolibrary.org/obo/MONDO_0005025 endocarditis|endocardium inflammation|inflammation of endocardium MONDO:0020662 borderline ovarian serous tumor biolink:Disease mondo NCIT:C5226 A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion. NCIT:C5226 http://purl.obolibrary.org/obo/MONDO_0020662 proliferating serous tumor of the ovary|proliferating serous tumor of ovary|ovarian serous neoplasm of low malignant potential|borderline serous neoplasm of the ovary|proliferating ovarian serous neoplasm|serous ovarian tumor of low malignant potential|borderline serous neoplasm of ovary|borderline ovarian serous tumor|borderline serous tumor of the ovary|borderline serous tumor of ovary|serous ovarian neoplasm of low malignant potential|serous tumor of ovary with low malignant potential|serous tumor of the ovary with low malignant potential|ovarian serous tumor of low malignant potential|serous neoplasm of ovary with low malignant potential|proliferating serous neoplasm of the ovary|proliferating ovarian serous tumor|proliferating serous neoplasm of ovary|serous neoplasm of the ovary with low malignant potential|borderline ovarian serous neoplasm MONDO:0007683 Grant syndrome biolink:Disease mondo Orphanet:2097|ICD10:Q87.5|SCTID:723827003|UMLS:C1841835|MESH:C537293|OMIM:138930|GARD:0002559 Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. http://identifiers.org/omim/138930|SNOMEDCT:723827003|UMLS:C1841835|ORPHA:2097|MESH:C537293 http://purl.obolibrary.org/obo/MONDO_0007683 Grant syndrome|persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia ordo_malformation_syndrome|gard_rare MONDO:0005020 intestinal disease biolink:Disease mondo ICD9:520-579.99|ICD9:569.9|ICD9:569.89|ICD9:564|ICD9:575|ICD9:569.49|ICD9:569.4|ICD10:K63.9|SCTID:85919009|ICD9:570-579.99|ICD9:560-569.99|DOID:5295|NCIT:C26801|MESH:D007410|ICD9:564.4|ICD9:569 A non-neoplastic or neoplastic disorder that affects the small or large intestine. MESH:D007410|SNOMEDCT:85919009|NCIT:C26801|DOID:5295 http://purl.obolibrary.org/obo/MONDO_0005020 disease, intestinal|intestine disease or disorder|intestinal disorder|disorder of intestine|diseases, intestinal|intestine disease|disorder of intestine|disease or disorder of intestine|intestinal disease|disease of intestine MONDO:0020661 undifferentiated round cell sarcoma biolink:Disease mondo NCIT:C121799 An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio. NCIT:C121799 http://purl.obolibrary.org/obo/MONDO_0020661 undifferentiated round cell sarcoma MONDO:0007684 granulomatous disease, chronic, autosomal dominant type biolink:Disease mondo MESH:C564210|OMIM:138990|DOID:0070190|UMLS:C1841825 http://identifiers.org/omim/138990|MESH:C564210|UMLS:C1841825|DOID:0070190 http://purl.obolibrary.org/obo/MONDO_0007684 granulomatous disease, chronic, autosomal dominant type MONDO:0020660 osteoblastic osteosarcoma biolink:Disease mondo NCIT:C53953 A conventional osteosarcoma characterized by the predominance of osteoid matrix. NCIT:C53953 http://purl.obolibrary.org/obo/MONDO_0020660 osteoblastic osteosarcoma MONDO:0007681 familial multinodular goiter biolink:Disease mondo ICD10:E04.2|SCTID:267369002|OMIM:138800|COHD:141825|UMLS:CN202615|Orphanet:276399|ICD9:240.0|MESH:C562732 An instance of multinodular goiter that is caused by an inherited modification of the individual's genome. ORPHA:276399|MESH:C562732|UMLS:CN202615|SNOMEDCT:267369002|http://identifiers.org/omim/138800 http://purl.obolibrary.org/obo/MONDO_0007681 goiter, nontoxic, with Intrathyroidal calcification|FMNG|goiter, multinodular 1, with or without Sertoli-Leydig cell tumors|multinodular goiter, adolescent|MNG1|hereditary multinodular goiter|euthyroid goiter|goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; MNG1|simple goiter|familial MNG ordo_disease MONDO:0005022 obsolete ductal breast adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005022 MONDO:0005021 dilated cardiomyopathy biolink:Disease mondo SCTID:195021004|Orphanet:217604|UMLS:C0007193|MedDRA:10056370|MP:0002795|ICD9:425.4|KEGG:05414|HP:0001644|NCIT:C84673|DOID:12930|EFO:0000407|MESH:D002311|ICD10:I42.0|COHD:4163710 Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. UMLS:C0007193|DOID:12930|MEDDRA:10056370|SNOMEDCT:195021004|ORPHA:217604|NCIT:C84673|MESH:D002311 http://purl.obolibrary.org/obo/MONDO_0005021 idiopathic dilation cardiomyopathy|congestive cardiomyopathy|familial dilated cardiomyopathy|primary dilated cardiomyopathy ordo_group_of_disorders MONDO:0007682 granddad syndrome biolink:Disease mondo MESH:C564211|UMLS:C1841836|OMIM:138920 MESH:C564211|UMLS:C1841836|http://identifiers.org/omim/138920 http://purl.obolibrary.org/obo/MONDO_0007682 granddad syndrome|Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations biolink:Disease mondo OMIM:618346 http://identifiers.org/omim/618346 http://purl.obolibrary.org/obo/MONDO_0032690 MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS; MIGSB MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome biolink:Disease mondo OMIM:138790|ICD10:Q87.8|GARD:0001671|Orphanet:2091|SCTID:723409007|UMLS:C1841853|MESH:C535986 Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. MESH:C535986|UMLS:C1841853|ORPHA:2091|SNOMEDCT:723409007|http://identifiers.org/omim/138790 http://purl.obolibrary.org/obo/MONDO_0007680 Daneman-Davy-Mancer syndrome|MNG/CRD/Da|goiter, multinodular, cystic renal disease, and digital anomalies|thyroid-renal-digital anomalies|multinodular goiter - cystic kidney - polydactyly|multinodular goiter/cystic renal disease/digital anomalies|multinodular goiter, cystic renal disease, and digital anomalies|Daneman Davy Mancer syndrome ordo_malformation_syndrome MONDO:0032691 Galloway-Mowat syndrome 6 biolink:Disease mondo OMIM:618347 http://identifiers.org/omim/618347 http://purl.obolibrary.org/obo/MONDO_0032691 GALLOWAY-MOWAT SYNDROME 6; GAMOS6 MONDO:0020659 upper tract urothelial carcinoma biolink:Disease mondo ONCOTREE:UTUC http://purl.obolibrary.org/obo/MONDO_0020659 MONDO:0017017 primary interstitial lung disease specific to childhood due to alveolar vascular disorder biolink:Disease mondo Orphanet:264683|UMLS:CN202329 ORPHA:264683|UMLS:CN202329 http://purl.obolibrary.org/obo/MONDO_0017017 primary ILD specific to childhood due to alveolar vascular disorder ordo_group_of_disorders MONDO:0020658 infiltrating ureter transitional cell carcinoma biolink:Disease mondo DOID:6845 DOID:6845 http://purl.obolibrary.org/obo/MONDO_0020658 HGNC:19309 KANK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19309 HGNC:10975 SLC24A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10975 MONDO:0017018 isolated pulmonary capillaritis biolink:Disease mondo ICD9:448.9|Orphanet:264691|SCTID:707436001|UMLS:C3873357 Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative. SNOMEDCT:707436001|UMLS:C3873357|ORPHA:264691 http://purl.obolibrary.org/obo/MONDO_0017018 ordo_disease MONDO:0019679 brachydactyly type A7 biolink:Disease mondo GARD:0000984|UMLS:CN206603|Orphanet:93397|SCTID:720571006|ICD10:Q73.8 Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. SNOMEDCT:720571006|UMLS:CN206603|ORPHA:93397 http://purl.obolibrary.org/obo/MONDO_0019679 brachydactyly Smorgasbord type|brachydactyly, Smorgasbord type gard_rare|ordo_malformation_syndrome MONDO:0020657 human papillomavirus-related squamous cell carcinoma biolink:Disease mondo NCIT:C27683 NCIT:C27683 http://purl.obolibrary.org/obo/MONDO_0020657 human papillomavirus-related squamous cell carcinoma|human papilloma virus-related squamous cell carcinoma|human papilloma virus related squamous cell carcinoma|HPV-related squamous cell carcinoma MONDO:0017019 interstitial lung disease specific to infancy biolink:Disease mondo UMLS:CN202332|Orphanet:264694 UMLS:CN202332|ORPHA:264694 http://purl.obolibrary.org/obo/MONDO_0017019 ILD specific to infancy ordo_group_of_disorders MONDO:0020656 human papillomavirus-related penile squamous cell carcinoma biolink:Disease mondo NCIT:C27682 A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma. NCIT:C27682 http://purl.obolibrary.org/obo/MONDO_0020656 human papillomavirus-related penile squamous cell carcinoma|HPV-related penile squamous cell carcinoma|human papilloma virus related penile squamous cell carcinoma|human papilloma virus-related penile squamous cell carcinoma MONDO:0020655 juvenile ankylosing spondylitis biolink:Disease mondo SCTID:239805001|DOID:0040092 DOID:0040092|SNOMEDCT:239805001 http://purl.obolibrary.org/obo/MONDO_0020655 HP:0002072 Chorea biolink:PhenotypicFeature mondo UMLS:C4020858|SNOMEDCT_US:271700006|UMLS:C0008489|MSH:D002819 Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. http://purl.obolibrary.org/obo/HP_0002072 Choreiform movements|Choreatic disease|Choreic movements MONDO:0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome biolink:Disease mondo OMIM:618877 http://identifiers.org/omim/618877 http://purl.obolibrary.org/obo/MONDO_0030035 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN|leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome|Leuden Syndrome|LEUDEN MONDO:0019676 brachydactyly type B biolink:Disease mondo ICD10:Q73.8|Orphanet:93383|GARD:0000985 Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. UMLS:C1300267|ORPHA:93383 http://purl.obolibrary.org/obo/MONDO_0019676 ordo_malformation_syndrome MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction biolink:Disease mondo OMIM:618356 http://identifiers.org/omim/618356 http://purl.obolibrary.org/obo/MONDO_0032698 NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION; NEDCPMD MONDO:0017013 trisomy 8p biolink:Disease mondo MESH:C538019|Orphanet:264450|ICD10:Q92.2 Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. ORPHA:264450|MESH:C538019 http://purl.obolibrary.org/obo/MONDO_0017013 Duplication 8p|trisomy type 8p ordo_malformation_syndrome MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity biolink:Disease mondo SCTID:254100000|ICD9:719.80|GARD:0004982|MESH:C562968|ICD10:Q77.7|OMIMPS:271640|Orphanet:93359|DC:0000688|ICD9:756.9 A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. UMLS:C0432243|ORPHA:93359|MESH:C562968|SNOMEDCT:254100000 http://purl.obolibrary.org/obo/MONDO_0019675 SEMDJL|spondyloepimetaphyseal dysplasia with joint laxity|SEMD-JL|SEMDJL1|spondyloepimetaphyseal dysplasia joint laxity|spondyloepimetaphyseal dysplasia with joint laxity type 1|spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ordo_disease|gard_rare MONDO:0017014 interstitial lung disease specific to childhood biolink:Disease mondo UMLS:CN202324|SCTID:328661000119108|Orphanet:264656 A interstitial lung disease that occurs during childhood. SNOMEDCT:328661000119108|ORPHA:264656|UMLS:CN202324 http://purl.obolibrary.org/obo/MONDO_0017014 pediatric interstitial lung disease|pediatric interstitial lung disease|interstitial lung disease of childhood|childhood interstitial lung disease|ILD specific to childhood ordo_group_of_disorders MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 biolink:Disease mondo OMIM:618357 http://identifiers.org/omim/618357 http://purl.obolibrary.org/obo/MONDO_0032699 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15; EIG15 MONDO:0030034 epilepsy, progressive myoclonic, 11 biolink:Disease mondo OMIM:618876 http://identifiers.org/omim/618876 http://purl.obolibrary.org/obo/MONDO_0030034 epilepsy, progressive myoclonic, 11|EPM11|EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 MONDO:0017015 primary interstitial lung disease specific to childhood biolink:Disease mondo UMLS:CN202326|Orphanet:264665|GARD:0010559 ORPHA:264665|UMLS:CN202326 http://purl.obolibrary.org/obo/MONDO_0017015 primary ILD specific to childhood|children's interstitial lung disease|child|primary interstitial lung disease specific to childhood ordo_group_of_disorders|gard_rare MONDO:0032696 oocyte maturation defect 6 biolink:Disease mondo OMIM:618353 http://identifiers.org/omim/618353 http://purl.obolibrary.org/obo/MONDO_0032696 OOCYTE MATURATION DEFECT 6; OOMD6 MONDO:0019678 brachydactyly type A5 biolink:Disease mondo MESH:C537091|GARD:0000982|UMLS:C1862138|SCTID:720570007|ICD10:Q73.8|Orphanet:93389 Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb. SNOMEDCT:720570007|ORPHA:93389|UMLS:C1862138|MESH:C537091 http://purl.obolibrary.org/obo/MONDO_0019678 brachydactyly with absence of middle phalanges and hypoplastic nails|absent middle phalanges of digits 2-5 with nail dysplasia|brachydactyly type A5 nail dysplasia gard_rare|ordo_malformation_syndrome MONDO:0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures biolink:Disease mondo OMIM:618879 http://identifiers.org/omim/618879 http://purl.obolibrary.org/obo/MONDO_0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS|Glycosylphosphatidylinositol Biosynthesis Defect 22|NEDHCAS MONDO:0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome biolink:Disease mondo OMIM:618878 http://identifiers.org/omim/618878 http://purl.obolibrary.org/obo/MONDO_0030036 LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD|LEMSPAD|Lemspad Syndrome|leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome MONDO:0019677 brachydactyly type E biolink:Disease mondo Orphanet:93387|ICD10:Q73.8|GARD:0000987 Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short. UMLS:C0265312|ORPHA:93387 http://purl.obolibrary.org/obo/MONDO_0019677 type E brachydactyly ordo_malformation_syndrome MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities biolink:Disease mondo OMIM:618354 http://identifiers.org/omim/618354 http://purl.obolibrary.org/obo/MONDO_0032697 NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES; NEDLBA HP:0002071 Abnormality of extrapyramidal motor function biolink:PhenotypicFeature mondo MSH:D001480|UMLS:C0234133|SNOMEDCT_US:43378000|UMLS:C0015371|SNOMEDCT_US:76349003 A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). http://purl.obolibrary.org/obo/HP_0002071 Extrapyramidal syndrome|Extrapyramidal tract signs|Extrapyramidal signs|Extrapyramidal dysfunction|Extrapyramidal symptoms HGNC:22947 NLRP7 biolink:OntologyClass mondo http://identifiers.org/hgnc/22947 MONDO:0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder biolink:Disease mondo Orphanet:264670|UMLS:CN202327 ORPHA:264670|UMLS:CN202327 http://purl.obolibrary.org/obo/MONDO_0017016 primary ILD specific to childhood due to alveolar structure disorder ordo_group_of_disorders MONDO:0030031 lissencephaly 10 biolink:Disease mondo OMIM:618873 http://identifiers.org/omim/618873 http://purl.obolibrary.org/obo/MONDO_0030031 lissencephaly 10|LISSENCEPHALY 10; LIS10|LIS10 MONDO:0032694 microcephaly 25, primary, autosomal recessive biolink:Disease mondo OMIM:618351 http://identifiers.org/omim/618351 http://purl.obolibrary.org/obo/MONDO_0032694 MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE; MCPH25 HP:0002076 Migraine biolink:PhenotypicFeature mondo UMLS:C0149931|MSH:D008881|UMLS:C0744641|SNOMEDCT_US:37796009 Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. http://purl.obolibrary.org/obo/HP_0002076 Migraine headaches|Migraine headache|Intermittent migraine headaches|Migraine MONDO:0019672 fibular hemimelia biolink:Disease mondo ICD10:Q72.6|Orphanet:93323 Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. ORPHA:93323 http://purl.obolibrary.org/obo/MONDO_0019672 congenital longitudinal deficiency of the fibula|fibular longitudinal meromelia ordo_morphological_anomaly MONDO:0017010 partial duplication of the long arm of chromosome X biolink:Disease mondo Orphanet:263783|UMLS:C0795891|MESH:C536732|ICD10:Q99.8|GARD:0005369 Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person. UMLS:C0795891|MESH:C536732|ORPHA:263783 http://purl.obolibrary.org/obo/MONDO_0017010 trisomy Xq|partial trisomy Xq|partial trisomy of chromosome Xq|chromosome Xq duplication|partial trisomy of the long arm of chromosome X|Xq trisomy|Duplication Xq|partial duplication of chromosome Xq|Xq duplication|partial duplication of the long arm of chromosome type X ordo_group_of_disorders|gard_rare MONDO:0019671 radial hemimelia biolink:Disease mondo Orphanet:93321|SCTID:48008009|ICD10:Q71.4|GARD:0000225|ICD9:755.59 Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius. ORPHA:93321|SNOMEDCT:48008009 http://purl.obolibrary.org/obo/MONDO_0019671 congenital longitudinal deficiency of the radius|radial ray agenesis|radial longitidinal meromelia|radial clubhand ordo_morphological_anomaly MONDO:0030030 Nizon-Isidor syndrome biolink:Disease mondo OMIM:618872 http://identifiers.org/omim/618872 http://purl.obolibrary.org/obo/MONDO_0030030 NIZIDS|nizon-isidor syndrome|NIZON-ISIDOR SYNDROME; NIZIDS MONDO:0032692 Galloway-Mowat syndrome 7 biolink:Disease mondo OMIM:618348 http://identifiers.org/omim/618348 http://purl.obolibrary.org/obo/MONDO_0032692 GALLOWAY-MOWAT SYNDROME 7; GAMOS7 MONDO:0019674 postaxial polydactyly type B biolink:Disease mondo UMLS:C1868120|ICD10:Q69.0|SCTID:715707008|Orphanet:93335 UMLS:C1868120|SNOMEDCT:715707008|ORPHA:93335 http://purl.obolibrary.org/obo/MONDO_0019674 PAPB ordo_morphological_anomaly MONDO:0017011 uniparental disomy of chromosome X biolink:Disease mondo Orphanet:263793|ICD10:Q99.8 ORPHA:263793 http://purl.obolibrary.org/obo/MONDO_0017011 UPD(X)|uniparental disomy of chromosome type X ordo_group_of_disorders MONDO:0030033 seizures, early-onset, with neurodegeneration and brain calcifications biolink:Disease mondo OMIM:618875 http://identifiers.org/omim/618875 http://purl.obolibrary.org/obo/MONDO_0030033 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC|seizures, early-onset, with neurodegeneration and brain calcifications|SENEBAC MONDO:0017012 partial duplication of the short arm of chromosome 1 biolink:Disease mondo Orphanet:264431 ORPHA:264431 http://purl.obolibrary.org/obo/MONDO_0017012 partial duplication of chromosome 1p|partial duplication of the short arm of chromosome type 1|partial trisomy of chromosome 1p ordo_group_of_disorders MONDO:0019673 postaxial polydactyly type A (disease) biolink:Disease mondo SCTID:715704001|UMLS:C3887487|ICD10:Q69.0|HP:0005696|Orphanet:93334 ORPHA:93334|SNOMEDCT:715704001|UMLS:C3887487 http://purl.obolibrary.org/obo/MONDO_0019673 PAPA|postaxial polydactyly type A ordo_morphological_anomaly MONDO:0032693 Galloway-Mowat syndrome 8 biolink:Disease mondo OMIM:618349 http://identifiers.org/omim/618349 http://purl.obolibrary.org/obo/MONDO_0032693 GALLOWAY-MOWAT SYNDROME 8; GAMOS8 MONDO:0030032 chromosome 17q11.2 duplication syndrome, 1.4-mb biolink:Disease mondo OMIM:618874 http://identifiers.org/omim/618874 http://purl.obolibrary.org/obo/MONDO_0030032 Nf1 Microduplication Syndrome|CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB HP:0100306 Muscle fiber hyaline bodies biolink:PhenotypicFeature mondo UMLS:C4022155 http://purl.obolibrary.org/obo/HP_0100306 Muscle fibre hyaline bodies HP:0100314 Cerebral inclusion bodies biolink:PhenotypicFeature mondo UMLS:C4022149 Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. http://purl.obolibrary.org/obo/HP_0100314 HGNC:22962 MED13L biolink:OntologyClass mondo http://identifiers.org/hgnc/22962 MONDO:0044680 short rib-polydactyly syndrome type 5 biolink:Disease mondo Orphanet:498497 ORPHA:498497 http://purl.obolibrary.org/obo/MONDO_0044680 ordo_malformation_syndrome MONDO:0005039 reproductive system disease biolink:Disease mondo DOID:15|NCIT:C4875|SCTID:362968007|Wikipedia:Reproductive_system_disease|UMLS:C0178829|EFO:0000512 A disease involving the reproductive system. SNOMEDCT:362968007|DOID:15|NCIT:C4875|UMLS:C0178829 http://purl.obolibrary.org/obo/MONDO_0005039 disorder of reproductive system|reproductive disease|disease or disorder of reproductive system|genital disorders|genital system disease|disorder of reproductive system|reproductive system disease|disease of reproductive system|reproductive system disease or disorder|reproductive system disorder HP:0002090 Pneumonia biolink:PhenotypicFeature mondo MSH:D011014|SNOMEDCT_US:233604007|UMLS:C0032285 Inflammation of any part of the lung parenchyma. http://purl.obolibrary.org/obo/HP_0002090 Pneumonia MONDO:0030038 glaucoma, primary closed-angle biolink:Disease mondo OMIM:618880 http://identifiers.org/omim/618880 http://purl.obolibrary.org/obo/MONDO_0030038 glaucoma, primary closed-angle|GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC|GLCC MONDO:0005038 obsolete genetic disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005038 FOODON:03411087 obsolete: human as milk source biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03411087 HGNC:20303 SLC30A8 biolink:OntologyClass mondo http://identifiers.org/hgnc/20303 HGNC:22965 PEX26 biolink:OntologyClass mondo http://identifiers.org/hgnc/22965 MONDO:0007698 hand-foot-genital syndrome biolink:Disease mondo Orphanet:2438|ICD10:Q51.2|ICD9:759.89|DOID:0060739|OMIM:140000|UMLS:C1841679|MedDRA:10072361|GARD:0002594|MESH:C535627|SCTID:702425002 Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. http://identifiers.org/omim/140000|MESH:C535627|UMLS:C1841679|SNOMEDCT:702425002|DOID:0060739|MEDDRA:10072361|ORPHA:2438 http://purl.obolibrary.org/obo/MONDO_0007698 hand-foot-uterus syndrome|hand-foot-genital syndrome|HFGS|hand-foot-genital syndrome; HFG|hand foot genital syndrome|HFU syndrome|HFG|HFG syndrome|hand foot uterus syndrome ordo_malformation_syndrome MONDO:0020654 renal pelvis/ureter urothelial carcinoma biolink:Disease mondo NCIT:C7716 A transitional cell carcinoma that arises from the renal pelvis and ureter. NCIT:C7716 http://purl.obolibrary.org/obo/MONDO_0020654 transitional cell cancer of the renal pelvis and ureter|transitional cell cancer of renal pelvis and ureter|renal pelvis and ureter urothelial carcinoma|transitional cell carcinoma of renal pelvis and ureter|TCC of the renal pelvis and ureter|renal pelvis and ureter TCC|TCC of renal pelvis and ureter|urothelial carcinoma of the renal pelvis and ureter|renal pelvis and ureter transitional cell carcinoma|renal pelvis and ureter transitional cell cancer MONDO:0005035 ganglioneuroblastoma (disease) biolink:Disease mondo NCIT:C3790|UMLS:C0206718|ONCOTREE:GNBL|HP:0006747|MedDRA:10017708|ICDO:9490/3|NIFSTD:birnlex_12633|Orphanet:251877|ICD9:171.9|EFO:0000502|SCTID:116381000119105|DOID:4163 A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. DOID:4163|UMLS:C0206718|MEDDRA:10017708|ORPHA:251877|NCIT:C3790|SNOMEDCT:116381000119105 http://purl.obolibrary.org/obo/MONDO_0005035 ganglioneuroblastoma (morphologic abnormality)|ganglioneuroblastoma|ganglioneuroblastoma, malignant ordo_disease MONDO:0044687 chronic relapsing inflammatory optic neuropathy biolink:Disease mondo Orphanet:499085 ORPHA:499085 http://purl.obolibrary.org/obo/MONDO_0044687 CRION|chronic recurrent isolated optic neuritis ordo_disease HGNC:10979 SLC25A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10979 MONDO:0005034 thyroid gland follicular carcinoma biolink:Disease mondo DOID:3962|SCTID:255028004|ONCOTREE:THFO|HP:0006731|EFO:0000501|NCIT:C8054|ICDO:8331/3|ICDO:8330/3|MESH:D018263 A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. NCIT:C8054|SNOMEDCT:255028004|MESH:D018263|DOID:3962 http://purl.obolibrary.org/obo/MONDO_0005034 thyroid gland adenocarcinoma|follicular adenocarcinoma (morphologic abnormality)|follicular cancer of thyroid|follicular adenocarcinoma, well differentiated (morphologic abnormality)|thyroid follicular carcinoma|follicular carcinoma of thyroid gland|thyroid follicle carcinoma|follicular carcinoma of the thyroid gland|thyroid gland follicular carcinoma|follicular carcinoma of the thyroid|follicular carcinoma of thyroid|follicular adenocarcinoma, well differentiated|follicular carcinoma|well-differentiated follicular carcinoma|follicular thyroid carcinoma|follicular thyroid gland carcinoma|follicular thyroid cancer|carcinoma, follicular cell, malignant|thyroid gland follicular cancer|follicular cancer of the thyroid gland|thyroid adenocarcinoma|well-differentiated follicular adenocarcinoma|follicular cancer of thyroid gland|follicular adenocarcinoma|carcinoma of thyroid follicle|follicular cancer of the thyroid MONDO:0007699 Hashimoto thyroiditis biolink:Disease mondo DOID:7188|OMIM:140300|COHD:135215|NCIT:C27191|MESH:D050031|Wikipedia:Hashimoto's_thyroiditis|ICD10:E06.3|ICD9:245.2|UMLS:C0677607|EFO:0003779 An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. http://identifiers.org/omim/140300|NCIT:C27191|MESH:D050031|DOID:7188|UMLS:C0677607 http://purl.obolibrary.org/obo/MONDO_0007699 syndromes, Hashimoto's|Hashimoto thyroiditis|Hashimoto's disease|chronic lymphocytic thyroiditis|Hashimoto's syndrome|Hashimoto thyroiditides|Hashimoto syndrome|Ht|HT|Hashimoto disease|chronic lymphocytic thyroiditides|hypothyroidism, autoimmune|hypothyroidism, autoimmune thyroid autoantibodies, included|disease, Hashimoto|Hashimotos disease|Hashimoto's syndromes|Hashimotos syndrome|disease, Hashimoto's|Hashimoto's struma|thyroiditides, Hashimoto|thyroiditis, Hashimoto|thyroiditides, chronic lymphocytic|thyroiditis, chronic lymphocytic|Hashimoto's thyroiditis|autoimmune thyroiditis|lymphocytic thyroiditis|lymphocytic thyroiditides, chronic|thyroid autoantibodies|Hashimoto struma|syndrome, Hashimoto's|lymphocytic thyroiditis, chronic MONDO:0020653 vaginal adenocarcinoma biolink:Disease mondo ONCOTREE:VA|NCIT:C7981 An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma. NCIT:C7981 http://purl.obolibrary.org/obo/MONDO_0020653 vagina adenocarcinoma|adenocarcinoma of vagina|adenocarcinoma of the vagina|vaginal adenocarcinoma MONDO:0005037 gastric intestinal type adenocarcinoma biolink:Disease mondo UMLS:C0279633|NCIT:C9157|EFO:0000504|ONCOTREE:ISTAD An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated. UMLS:C0279633|NCIT:C9157 http://purl.obolibrary.org/obo/MONDO_0005037 intestinal stomach adenocarcinoma|gastric intestinal-type adenocarcinoma|intestinal adenocarcinoma of the stomach|intestinal adenocarcinoma of stomach|gastric intestinal type adenocarcinoma|intestinal gastric adenocarcinoma|intestinal type stomach adenocarcinoma MONDO:0007696 Emery-Nelson syndrome biolink:Disease mondo Orphanet:1927|UMLS:C1841693|GARD:0002593|MESH:C535626|OMIM:139750|ICD10:Q87.8 ORPHA:1927|MESH:C535626|UMLS:C1841693|http://identifiers.org/omim/139750 http://purl.obolibrary.org/obo/MONDO_0007696 familial syndrome of short stature, deformities of the hands and feet, and unusual facies|hand and foot deformity-flat facies syndrome|hand and foot deformity with flat facies|hand and foot deformity - flat facies ordo_malformation_syndrome MONDO:0044689 recurrent idiopathic neuroretinitis biolink:Disease mondo Orphanet:499103 ORPHA:499103 http://purl.obolibrary.org/obo/MONDO_0044689 RINR ordo_disease MONDO:0020652 immature teratoma of vulva biolink:Disease mondo ONCOTREE:VIMT http://purl.obolibrary.org/obo/MONDO_0020652 MONDO:0020651 mixed germ cell tumor of vulva biolink:Disease mondo ONCOTREE:VMGCT http://purl.obolibrary.org/obo/MONDO_0020651 MONDO:0005036 gastric adenocarcinoma biolink:Disease mondo SCTID:408647009|ONCOTREE:STAD|NCIT:C4004|EFO:0000503|UMLS:C0278701|DOID:3717 A carcinoma that arises from glandular epithelial cells of the stomach UMLS:C0278701|SNOMEDCT:408647009|DOID:3717|NCIT:C4004 http://purl.obolibrary.org/obo/MONDO_0005036 STAD|adenocarcinoma of the stomach|adenocarcinoma of stomach|gastric (stomach) adenocarcinoma|adenocarcinoma - stomach|stomach adenocarcinoma|gastric adenocarcinoma MONDO:0007697 hand clasping pattern biolink:Disease mondo OMIM:139800 http://identifiers.org/omim/139800 http://purl.obolibrary.org/obo/MONDO_0007697 hand clasping pattern MONDO:0044688 isolated optic neuritis biolink:Disease mondo Orphanet:499096 ORPHA:499096 http://purl.obolibrary.org/obo/MONDO_0044688 ion ordo_disease HGNC:10978 SLC24A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/10978 MONDO:0005031 fibromatosis biolink:Disease mondo GARD:0006439|EFO:0000497|SCTID:723976005|NCIT:C3042 A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. SNOMEDCT:723976005|NCIT:C3042 http://purl.obolibrary.org/obo/MONDO_0005031 fibromatosis MONDO:0007694 hairy nose tip biolink:Disease mondo OMIM:139630|MESH:C535619|GARD:0008465 MESH:C535619|http://identifiers.org/omim/139630 http://purl.obolibrary.org/obo/MONDO_0007694 hairy nose tip|HNT gard_rare MONDO:0044683 limbic encephalitis with neurexin-3 antibodies biolink:Disease mondo Orphanet:498700 ORPHA:498700 http://purl.obolibrary.org/obo/MONDO_0044683 ordo_disease MONDO:0020650 germ cell tumor of the vulva biolink:Disease mondo ONCOTREE:VGCT http://purl.obolibrary.org/obo/MONDO_0020650 MONDO:0007695 hairy palms and soles biolink:Disease mondo MESH:C535620|OMIM:139650|GARD:0008461 MESH:C535620|http://identifiers.org/omim/139650 http://purl.obolibrary.org/obo/MONDO_0007695 circumscribed hairy Dysembryoplasia of palms|hairy palms and soles|hairy cutaneous malformations of palms and soles|thickened hair-bearing skin on the palms of both hands gard_rare MONDO:0005030 fetal growth restriction biolink:Disease mondo ICD9:764.99|ICD9:764.97|EFO:0000495|ICD9:764.96|ICD9:764.95|ICD9:764.94|ICD9:764.92|ICD9:764.90|ICD9:764.93|ICD9:764.91|MESH:D005317|COHD:80204|NCIT:C114875|ICD9:764.9|SCTID:22033007|ICD9:764.98 A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. SNOMEDCT:22033007|NCIT:C114875|MESH:D005317|NCIT:C80083 http://purl.obolibrary.org/obo/MONDO_0005030 IUGR|intrauterine Growth retardation|fetus small for gestational Age|fetal small for gestational Age|intrauterine Growth restriction|fetal SGA|fetal Growth retardation|fetal growth retardation MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome biolink:Disease mondo Orphanet:498693 ORPHA:498693 http://purl.obolibrary.org/obo/MONDO_0044682 MYBPC1-related autosomal recessive non-lethal AMC syndrome ordo_disease MONDO:0005033 ganglioneuroma (disease) biolink:Disease mondo ICD9:215.9|DOID:4817|ICDO:9490/0|NIFSTD:birnlex_12617|NCIT:C3049|MedDRA:10017709|HP:0003005|ICD10:D36.1|SCTID:116371000119107|EFO:0000500|ONCOTREE:GN|UMLS:C0017075|Orphanet:251992 A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray. MEDDRA:10017709|DOID:4817|UMLS:C0017075|ORPHA:251992|NCIT:C3049|SNOMEDCT:116371000119107 http://purl.obolibrary.org/obo/MONDO_0005033 ganglioneuroma, benign|ganglioneuroma|ganglioneuroma (Schwannian Stroma-dominant)|neural Crest tumor, benign|GN ordo_disease MONDO:0007692 hairy ears biolink:Disease mondo SCTID:89000008|OMIM:139500|MESH:C562484 MESH:C562484|http://identifiers.org/omim/139500|SNOMEDCT:89000008 http://purl.obolibrary.org/obo/MONDO_0007692 hypertrichosis pinnae auris|hairy ears MONDO:0044685 autoimmune/inflammatory optic neuropathy biolink:Disease mondo Orphanet:499047 ORPHA:499047 http://purl.obolibrary.org/obo/MONDO_0044685 ordo_group_of_disorders MONDO:0007693 hypertrichosis cubiti-short stature syndrome biolink:Disease mondo GARD:0000143|MedDRA:10068636|Orphanet:2220|ICD10:Q84.2|UMLS:C1841696|OMIM:139600|MESH:C535618 Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. MESH:C535618|UMLS:C1841696|MEDDRA:10068636|ORPHA:2220|http://identifiers.org/omim/139600 http://purl.obolibrary.org/obo/MONDO_0007693 hypertrichosis cubiti|hairy elbows|hairy elbows syndrome|MacDermot-Patton-Williams syndrome ordo_malformation_syndrome|gard_rare MONDO:0044684 tuberculous meningitis biolink:Disease mondo Orphanet:499004|SCTID:58437007 ORPHA:499004|SNOMEDCT:58437007 http://purl.obolibrary.org/obo/MONDO_0044684 tubercular meningitis|TBM ordo_disease MONDO:0005032 follicular thyroid adenoma biolink:Disease mondo NCIT:C3502|DOID:6204|SCTID:255034006|UMLS:C0205647|ICDO:8330/0|EFO:0000499 A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics. UMLS:C0205647|NCIT:C3502|DOID:6204|SNOMEDCT:255034006 http://purl.obolibrary.org/obo/MONDO_0005032 follicular adenoma of the thyroid gland|thyroid gland adenoma|adenoma, follicular cell, benign|thyroid follicular adenoma|thyroid adenoma|follicular adenoma of thyroid gland|thyroid gland follicular adenoma|follicular adenoma of the thyroid|follicular thyroid adenoma|follicular adenoma of thyroid|follicular adenoma|thyroid follicle adenoma|adenoma of the thyroid gland|follicular adenoma (morphologic abnormality)|adenoma of thyroid gland|adenoma of the thyroid|adenoma of thyroid MONDO:0007690 aromatase excess syndrome biolink:Disease mondo Orphanet:178345|GARD:12949|GARD:0012494|SCTID:709075008|OMIM:139300|ICD10:E30.1|MESH:C000591739|ICD9:259.8|DOID:0090122|UMLS:C1970109 Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. MESH:C000591739|UMLS:C1970109|http://identifiers.org/omim/139300|ORPHA:178345|SNOMEDCT:709075008|DOID:0090122 http://purl.obolibrary.org/obo/MONDO_0007690 hereditary prepubertal gynecomastia|aromatase excess syndrome; AEXS|aromatase excess syndrome|aromatase activity, increased|increased aromatase activity|gynecomastia, hereditary|familial hyperestrogenism|AEXS|gynecomastia, familial, due to increased aromatase activity gard_rare|ordo_disease HGNC:10982 SLC25A12 biolink:OntologyClass mondo http://identifiers.org/hgnc/10982 MONDO:0007691 chronic inflammatory demyelinating polyneuropathy biolink:Disease mondo GARD:0006102|OMIM:139393|ICD10:G61.8|MedDRA:10057645|Orphanet:2932|SCTID:716723000 Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. MEDDRA:10057645|SNOMEDCT:716723000|http://identifiers.org/omim/139393|UMLS:C0393819|ORPHA:2932 http://purl.obolibrary.org/obo/MONDO_0007691 chronic inflammatory demyelinating polyradiculoneuropathy|polyneuropathy, inflammatory demyelinating, chronic|CIDP|polyneuropathy, inflammatory demyelinating, acute|Guillain-Barre syndrome, familial; GBS|chronic inflammatory demyelinating polyneuropathy|Guillain-Barre syndrome, familial ordo_disease NCBITaxon:140564 Ornithodoros parkeri organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_140564 HGNC:10983 SLC25A13 biolink:OntologyClass mondo http://identifiers.org/hgnc/10983 MONDO:0020649 warty carcinoma of the penis biolink:Disease mondo NCIT:C6981|ONCOTREE:WPSCC A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases. NCIT:C6981 http://purl.obolibrary.org/obo/MONDO_0020649 squamous cell carcinoma of the penis, warty type|condylomatous carcinoma of the penis|condylomatous carcinoma of penis|squamous cell carcinoma of penis, warty type|warty penile squamous cell carcinoma|warty carcinoma of the penis|warty carcinoma of penis|condylomatous squamous cell carcinoma of the penis|condylomatous squamous cell carcinoma of penis|squamous cell carcinoma of the penis, condylomatous type|squamous cell carcinoma of penis, condylomatous type|condylomatous penile squamous cell carcinoma|warty squamous cell carcinoma of the penis|warty squamous cell carcinoma of penis MONDO:0020648 rubella encephalitis biolink:Disease mondo SCTID:192689006 SNOMEDCT:192689006 http://purl.obolibrary.org/obo/MONDO_0020648 MONDO:0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome biolink:Disease mondo OMIM:618142 http://identifiers.org/omim/618142 http://purl.obolibrary.org/obo/MONDO_0020647 MFRG|microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome; MFRG MONDO:0019669 hypochondrogenesis biolink:Disease mondo DOID:0080044|Orphanet:93297|ICD10:Q77.0 DOID:0080044|UMLS:C0542428|ORPHA:93297 http://purl.obolibrary.org/obo/MONDO_0019669 ordo_clinical_subtype MONDO:0017006 X and Y chromosomal anomaly biolink:Disease mondo ICD10:Q98.8|Orphanet:263749 ORPHA:263749 http://purl.obolibrary.org/obo/MONDO_0017006 ordo_group_of_disorders MONDO:0017007 partial deletion of the long arm of chromosome X biolink:Disease mondo Orphanet:263756|ICD10:Q99.8 ORPHA:263756 http://purl.obolibrary.org/obo/MONDO_0017007 partial monosomy of chromosome Xq|partial deletion of chromosome Xq|partial deletion of the long arm of chromosome type X|partial monosomy of the long arm of chromosome X ordo_group_of_disorders MONDO:0019668 adenoma of pancreas biolink:Disease mondo GARD:0004204|UMLS:C4076724|UMLS:C1142432|MESH:C538110|MedDRA:10058902|Orphanet:93292|SCTID:208061000119101|ICD10:D13.6 UMLS:C4076724|MESH:C538110|SNOMEDCT:208061000119101|MEDDRA:10058902|UMLS:C1142432|ORPHA:93292 http://purl.obolibrary.org/obo/MONDO_0019668 pancreatic adenoma|adenoma of the pancreas ordo_disease MONDO:0020646 ocular adnexal lymphoma biolink:Disease mondo UMLS:C2981712|NCIT:C88145 A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type. UMLS:C2981712|NCIT:C88145 http://purl.obolibrary.org/obo/MONDO_0020646 ocular adnexal lymphoma|OAL|non-Hodgkin lymphoma of ocular adnexa|ocular adnexa non-Hodgkin lymphoma MONDO:0020645 autosomal dominant osteopetrosis biolink:Disease mondo UMLS:C4272579|OMIMPS:607634 Autosomal dominant form of osteopetrosis (disease). UMLS:C4272579 http://purl.obolibrary.org/obo/MONDO_0020645 OPTA|osteopetrosis (disease), autosomal dominant|autosomal dominant osteopetrosis (disease) MONDO:0017008 partial duplication of chromosome X biolink:Disease mondo ICD10:Q99.8|Orphanet:263768 ORPHA:263768 http://purl.obolibrary.org/obo/MONDO_0017008 partial trisomy of chromosome X|partial duplication of chromosome type X ordo_group_of_disorders HGNC:10985 SLC25A15 biolink:OntologyClass mondo http://identifiers.org/hgnc/10985 MONDO:0020644 lung non-Hodgkin lymphoma biolink:Disease mondo UMLS:C1334453|NCIT:C5684 A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma. NCIT:C5684|UMLS:C1334453 http://purl.obolibrary.org/obo/MONDO_0020644 lung non-Hodgkin lymphoma|primary lung non-Hodgkin's lymphoma|lung non-Hodgkin's lymphoma|non-Hodgkin lymphoma of lung MONDO:0017009 partial duplication of the short arm of chromosome X biolink:Disease mondo GARD:0012421|Orphanet:263775|ICD10:Q99.8 ORPHA:263775 http://purl.obolibrary.org/obo/MONDO_0017009 partial duplication of chromosome Xp|partial trisomy of the short arm of chromosome X|partial duplication of the short arm of chromosome type X|partial trisomy of chromosome Xp ordo_group_of_disorders MONDO:0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity biolink:Disease mondo OMIM:618890 http://identifiers.org/omim/618890 http://purl.obolibrary.org/obo/MONDO_0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity|NEDBASS|NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS MONDO:0019665 monostotic fibrous dysplasia (disease) biolink:Disease mondo HP:0010736|UMLS:C0016064|ICD10:Q78.1|Orphanet:93277|SCTID:89859004|ICD10:M85.0|NCIT:C53971|MESH:D005358|ICD9:733.29 Fibrous dysplasia of bone involving only one bone. NCIT:C53971|MESH:D005358|SNOMEDCT:89859004|UMLS:C0016064|ORPHA:93277 http://purl.obolibrary.org/obo/MONDO_0019665 monostotic fibrous dysplasia|Jaffe-Lichtenstein disease|monostotic fibrous dysplasia of bone ordo_clinical_subtype HGNC:19316 P3H1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19316 MONDO:0017002 polysomy of X chromosome biolink:Disease mondo Orphanet:263723 ORPHA:263723 http://purl.obolibrary.org/obo/MONDO_0017002 ordo_group_of_disorders MONDO:0019664 short rib-polydactyly syndrome, Verma-Naumoff type biolink:Disease mondo MESH:C537602|UMLS:C0432197|ICD10:Q77.2|SCTID:254051008|Orphanet:93271|ICD9:759.89|GARD:0004835 Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. MESH:C537602|UMLS:C0432197|ORPHA:93271|SNOMEDCT:254051008 http://purl.obolibrary.org/obo/MONDO_0019664 polydactyly with neonatal chondrodystrophy type III|SRPS type 3|short rib-polydactyly syndrome type III|Verma Naumoff syndrome|short rib polydactyly syndrome Verma Naumoff type|short rib-polydactyly syndrome type 3 ordo_malformation_syndrome MONDO:0017003 partial deletion of chromosome X biolink:Disease mondo ICD10:Q99.8|Orphanet:263726 ORPHA:263726 http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome type X|partial monosomy of chromosome X ordo_group_of_disorders MONDO:0030045 Liberfarb syndrome biolink:Disease mondo OMIM:618889 http://identifiers.org/omim/618889 http://purl.obolibrary.org/obo/MONDO_0030045 Spondyloepimetaphyseal Dysplasia, Liberfarb Type|Liberfarb syndrome|LIBF|LIBERFARB SYNDROME; LIBF HGNC:19317 P3H2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19317 MONDO:0019667 spondyloepiphyseal dysplasia tarda biolink:Disease mondo ICD9:756.9|ICD10:Q77.7|SCTID:51952004|Orphanet:93284 Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. SNOMEDCT:51952004|ORPHA:93284 http://purl.obolibrary.org/obo/MONDO_0019667 ordo_disease MONDO:0017004 partial monosomy of the short arm of chromosome X biolink:Disease mondo Orphanet:263731|ICD10:Q99.8 ORPHA:263731 http://purl.obolibrary.org/obo/MONDO_0017004 partial deletion of chromosome Xp|partial monosomy of the short arm of chromosome type X|partial monosomy of chromosome Xp|partial deletion of the short arm of chromosome X ordo_group_of_disorders MONDO:0030048 harderoporphyria biolink:Disease mondo OMIM:618892 http://identifiers.org/omim/618892 http://purl.obolibrary.org/obo/MONDO_0030048 HARDEROPORPHYRIA; HARPO|HARPO|harderoporphyria MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type biolink:Disease mondo ICD10:Q77.7|Orphanet:93282|SCTID:719172003|OMIM:612847|DOID:0050812 Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. SNOMEDCT:719172003|http://identifiers.org/omim/612847|DOID:0050812|ORPHA:93282 http://purl.obolibrary.org/obo/MONDO_0019666 spondyloepimetaphyseal dysplasia Pakistani type|spondylodysplasia and premature pubarche|brachyolmia type 4 with mild epiphyseal and metaphyseal changes; BCYM4|spondyloepimetaphyseal dysplasia, Pakistani type|SEMD, Pakistani type|BCYM4|brachyolmia type 4 with mild epiphyseal and metaphyseal changes ordo_disease MONDO:0030047 microcephaly, developmental delay, and brittle hair syndrome biolink:Disease mondo OMIM:618891 http://identifiers.org/omim/618891 http://purl.obolibrary.org/obo/MONDO_0030047 MDBH|MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH|microcephaly, developmental delay, and brittle hair syndrome MONDO:0017005 Y chromosome number anomaly biolink:Disease mondo Orphanet:263746 ORPHA:263746 http://purl.obolibrary.org/obo/MONDO_0017005 ordo_group_of_disorders MONDO:0019661 Pfeiffer syndrome type 3 biolink:Disease mondo UMLS:CN206535|ICD10:Q87.0|Orphanet:93260 Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities. UMLS:CN206535|ORPHA:93260 http://purl.obolibrary.org/obo/MONDO_0019661 ordo_clinical_subtype HP:0002087 Abnormality of the upper respiratory tract biolink:PhenotypicFeature mondo UMLS:C4025727 An abnormality of the upper respiratory tract. http://purl.obolibrary.org/obo/HP_0002087 Abnormality of the upper respiratory tract|Upper respiratory tract issues MONDO:0030042 proteinuria, chronic benign biolink:Disease mondo OMIM:618884 http://identifiers.org/omim/618884 http://purl.obolibrary.org/obo/MONDO_0030042 PROCHOB|proteinuria, chronic benign|PROTEINURIA, CHRONIC BENIGN; PROCHOB FOODON:03411081 penaeid shrimp family biolink:OntologyClass mondo *Penaeidae* is a family of marine crustacean in the suborder *Dendrobranchiata*, which are often referred to as penaeid shrimp or penaeid prawn. It contains many species of economic importance, such as the tiger prawn, whiteleg shrimp, Atlantic white shrimp and Indian prawn. Many prawns are the subject of commercial fishery, and farming, both in marine settings, and in freshwater farms. [https://en.wikipedia.org/wiki/Penaeidae] http://purl.obolibrary.org/obo/FOODON_03411081 Dendrobranchiata Bate, 1888|Natantia HP:0002088 Abnormal lung morphology biolink:PhenotypicFeature mondo SNOMEDCT_US:19829001|MSH:D008171|UMLS:C4021760|UMLS:C0024115 Any structural anomaly of the lung. http://purl.obolibrary.org/obo/HP_0002088 Abnormally shaped lung|Abnormality of lung structure|Abnormality of the lungs|Unusal lung shape|Lung disease MONDO:0019660 Pfeiffer syndrome type 2 biolink:Disease mondo ICD10:Q87.0|UMLS:CN206534|Orphanet:93259 Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities. UMLS:CN206534|ORPHA:93259 http://purl.obolibrary.org/obo/MONDO_0019660 ordo_clinical_subtype MONDO:0019663 short rib-polydactyly syndrome, Saldino-Noonan type biolink:Disease mondo ICD10:Q77.2|Orphanet:93270|GARD:0004834|DOID:0050549|SCTID:27330009 Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (''flipper-like''extremities), pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems. DOID:0050549|SNOMEDCT:27330009|ORPHA:93270 http://purl.obolibrary.org/obo/MONDO_0019663 type I short rib polydactyly syndrome|SRPS type 1|Saldino-Noonan syndrome|polydactyly with neonatal chondrodystrophy type 1|short rib-polydactyly syndrome Saldino-Noonan type|short rib-polydactyly syndrome type 1 ordo_malformation_syndrome MONDO:0030044 pseudo-torch syndrome 3 biolink:Disease mondo OMIM:618886 http://identifiers.org/omim/618886 http://purl.obolibrary.org/obo/MONDO_0030044 PTORCH3|PSEUDO-TORCH SYNDROME 3; PTORCH3|pseudo-torch syndrome 3 MONDO:0017000 X chromosome number anomaly with female phenotype biolink:Disease mondo Orphanet:263717 ORPHA:263717 http://purl.obolibrary.org/obo/MONDO_0017000 ordo_group_of_disorders MONDO:0019662 short rib-polydactyly syndrome, Majewski type biolink:Disease mondo SCTID:72922008|ICD9:756.3|GARD:0004833|ICD10:Q77.2|Orphanet:93269 SNOMEDCT:72922008|ORPHA:93269 http://purl.obolibrary.org/obo/MONDO_0019662 SRPS type 2|polydactyly with neonatal chondrodystrophy type 2|short rib-polydactyly syndrome type 2|short rib-polydactyly syndrome Majewski type ordo_malformation_syndrome MONDO:0017001 X chromosome number anomaly with male phenotype biolink:Disease mondo Orphanet:263720 ORPHA:263720 http://purl.obolibrary.org/obo/MONDO_0017001 ordo_group_of_disorders HP:0002086 Abnormality of the respiratory system biolink:PhenotypicFeature mondo UMLS:C4018871 An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. http://purl.obolibrary.org/obo/HP_0002086 Respiratory abnormality MONDO:0030043 congenital disorder of glycosylation, type iit biolink:Disease mondo OMIM:618885 http://identifiers.org/omim/618885 http://purl.obolibrary.org/obo/MONDO_0030043 Cdg Iit|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T MONDO:0017071 thoracolumbosacral spina bifida cystica biolink:Disease mondo Orphanet:268752 ORPHA:268752 http://purl.obolibrary.org/obo/MONDO_0017071 ordo_clinical_subtype MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 biolink:Disease mondo OMIM:618246 http://identifiers.org/omim/618246 http://purl.obolibrary.org/obo/MONDO_0032629 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25; MC1DN25 HP:0100326 Immunologic hypersensitivity biolink:PhenotypicFeature mondo UMLS:C0237653 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. http://purl.obolibrary.org/obo/HP_0100326 MONDO:0017072 lumbosacral spina bifida cystica biolink:Disease mondo Orphanet:268758 ORPHA:268758 http://purl.obolibrary.org/obo/MONDO_0017072 ordo_clinical_subtype FOODON:03411017 oil-producing plant biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03411017 MONDO:0032627 mitochondrial complex 1 deficiency, nuclear type 23 biolink:Disease mondo OMIM:618244 http://identifiers.org/omim/618244 http://purl.obolibrary.org/obo/MONDO_0032627 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23; MC1DN23 MONDO:0017073 cervical spina bifida cystica biolink:Disease mondo Orphanet:268762 ORPHA:268762 http://purl.obolibrary.org/obo/MONDO_0017073 ordo_clinical_subtype HP:0100324 Scleroderma biolink:PhenotypicFeature mondo UMLS:C1274865|SNOMEDCT_US:89155008|UMLS:C0011644|SNOMEDCT_US:403524003|MSH:D012594 A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. http://purl.obolibrary.org/obo/HP_0100324 Pseudoscleroderma|Progressive systemic scleroderma MONDO:0017074 cervicothoracic spina bifida cystica biolink:Disease mondo Orphanet:268766 ORPHA:268766 http://purl.obolibrary.org/obo/MONDO_0017074 ordo_clinical_subtype MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 biolink:Disease mondo OMIM:618245 http://identifiers.org/omim/618245 http://purl.obolibrary.org/obo/MONDO_0032628 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24; MC1DN24 MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 biolink:Disease mondo OMIM:618242 http://identifiers.org/omim/618242 http://purl.obolibrary.org/obo/MONDO_0032625 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21; MC1DN21 FOODON:03411013 plant used for producing extract or concentrate biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03411013 MONDO:0032626 mitochondrial complex 1 deficiency, nuclear type 22 biolink:Disease mondo OMIM:618243 http://identifiers.org/omim/618243 http://purl.obolibrary.org/obo/MONDO_0032626 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22 MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 biolink:Disease mondo OMIM:618240 http://identifiers.org/omim/618240 http://purl.obolibrary.org/obo/MONDO_0032623 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18; MC1DN18 MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 biolink:Disease mondo OMIM:618241 http://identifiers.org/omim/618241 http://purl.obolibrary.org/obo/MONDO_0032624 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19; MC1DN19 MONDO:0017070 total spina bifida cystica biolink:Disease mondo Orphanet:268748 ORPHA:268748 http://purl.obolibrary.org/obo/MONDO_0017070 ordo_clinical_subtype HGNC:22932 GMPPB biolink:OntologyClass mondo http://identifiers.org/hgnc/22932 MONDO:0005089 sarcoma biolink:Disease mondo ICD9:171.8|ICD9:171.7|ICD9:171|ICD9:171.6|ICD9:171.5|ICD9:171.4|ICD9:171.3|ICD9:171.2|NCIT:C9118|DOID:1115|ICDO:8800/3|ICD9:171.0|SCTID:424413001|GARD:0012018|ICD10:C49|MESH:D012509|ICD9:171.9|EFO:0000691 A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. NCIT:C9118|MESH:D012509|DOID:1115|SNOMEDCT:424413001 http://purl.obolibrary.org/obo/MONDO_0005089 sarcoma of soft tissue and bone|tumor of soft tissue and skeleton|sarcoma of the soft tissue and bone|sarcoma, malignant|sarcoma|connective and soft tissue neoplasm|mesenchymal tumor, malignant HGNC:10947 SLC20A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10947 MONDO:0005086 renal cell carcinoma (disease) biolink:Disease mondo SCTID:702391001|MESH:D002292|HP:0005584|ICD9:189.0|GARD:0013215|Orphanet:217071|MedDRA:10067946|EFO:0000681|DOID:4450|ONCOTREE:RCC A carcinoma that arises from glandular epithelial cells of the kidney SNOMEDCT:702391001|MESH:D002292|MEDDRA:10067946|UMLS:C0007134|DOID:4450|ORPHA:217071 http://purl.obolibrary.org/obo/MONDO_0005086 renal cell adenocarcinoma|renal cell carcinoma|kidney adenocarcinoma|RCC|adenocarcinoma of kidney|hypernephroma gard_rare|ordo_group_of_disorders MONDO:0005085 pterygium biolink:Disease mondo DOID:0002116|EFO:0000678|ICD10:H11.009|SCTID:77489003|ICD10:H11.0|UMLS:C0033999|ICD9:372.4|COHD:375552|ICD9:372.40|MESH:D011625|NCIT:C133744|ICD10:H11.00 A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder. UMLS:C0033999|NCIT:C133744|MESH:D011625|DOID:0002116|SNOMEDCT:77489003 http://purl.obolibrary.org/obo/MONDO_0005085 surfer's eye|pterygium of conjunctiva and cornea MONDO:0005088 obsolete rheumatoid arthritis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005088 MONDO:0005087 respiratory system disease biolink:Disease mondo ICD9:503|ICD9:508.9|SCTID:50043002|ICD9:519.8|ICD9:519|ICD9:508.8|ICD9:460-519.99|ICD9:517.8|ICD9:516.9|NCIT:C26871|ICD9:516.8|ICD9:519.3|ICD9:519.1|ICD9:508.1|ICD9:500-508.99|ICD10:J98|EFO:0000684|ICD9:519.9|ICD9:508|ICD9:V47.2|MESH:D012140|ICD9:517|ICD9:V12.60|ICD9:510-519.99|ICD9:516|ICD10:J96-J99|DOID:1579 A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. NCIT:C26871|MESH:D012140|SNOMEDCT:50043002|DOID:1579 http://purl.obolibrary.org/obo/MONDO_0005087 disease of respiratory system|respiratory system disorder|disorder of respiratory system|disorder of respiratory system|disease or disorder of respiratory system|respiratory system disease|respiratory disorder|respiratory disease|respiratory system disease or disorder MONDO:0005082 prostate adenocarcinoma biolink:Disease mondo EFO:0000673|ONCOTREE:PRAD|SCTID:399490008|UMLS:C0007112|NCIT:C2919|DOID:2526 A carcinoma that arises from glandular epithelial cells of the prostate gland SNOMEDCT:399490008|NCIT:C2919|UMLS:C0007112|DOID:2526 http://purl.obolibrary.org/obo/MONDO_0005082 adenocarcinoma of prostate|prostate adenocarcinoma|adenocarcinoma of the prostate|prad|prostate gland adenocarcinoma MONDO:0005081 preeclampsia biolink:Disease mondo EFO:0000668|ICD10:O14.2|ICD10:O14.1|ICD10:O14.0|ICD9:642.40|MedDRA:10036485|ICD9:642.44|DOID:10591|ICD9:642.43|SCTID:398254007|ICD9:642.42|MESH:D011225|ICD9:642.41|Orphanet:275555|ICD10:O14.90|NCIT:C85021|ICD10:O14|OMIMPS:189800|ICD10:O14.9 Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. MEDDRA:10036485|UMLS:C0032914|MESH:D011225|SNOMEDCT:398254007|NCIT:C85021|ORPHA:275555|DOID:10591 http://purl.obolibrary.org/obo/MONDO_0005081 pre-eclampsia|preeclampsia/eclampsia|pregnancy associated hypertension|proteinuric hypertension of pregnancy|pre-eclamptic toxaemia|preeclampsia|pregnancy toxemia|hypertension induced by pregnancy|toxaemia of pregnancy|gestational hypertension ordo_disease MONDO:0005084 mental disorder biolink:Disease mondo ICD10:F00.F99|ICD9:290-299.99|ICD9:V11.9|SCTID:74732009|EFO:0000677|NIFSTD:birnlex_12669|UMLS:CN240636|ICD9:298.8 A disease that has its basis in the disruption of mental process. SNOMEDCT:74732009|UMLS:CN240636 http://purl.obolibrary.org/obo/MONDO_0005084 mental process disease|disorder of mental process|disorder of mental process|mental or behavioural disorder MONDO:0005083 psoriasis biolink:Disease mondo NCIT:C3346|MESH:D011565|ICD10:L40.9|ICD9:696.1|COHD:140168|UMLS:C0033860|ICD9:696|EFO:0000676|DOID:8893|ICD10:L40|GARD:0010262|ICD9:696.8|OMIMPS:177900|ICD9:696.5|SCTID:9014002 An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. UMLS:C0033860|NCIT:C3346|DOID:8893|MESH:D011565|SNOMEDCT:9014002 http://purl.obolibrary.org/obo/MONDO_0005083 NCBITaxon:32525 Theria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria MONDO:0005080 portal hypertension biolink:Disease mondo NCIT:C3119|UMLS:C0020541|SCTID:34742003|ICD9:572.3|DOID:10762|EFO:0000666|MESH:D006975|COHD:192680|GARD:0008229|ICD10:K76.6 Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly. SNOMEDCT:34742003|MESH:D006975|NCIT:C3119|DOID:10762|UMLS:C0020541 http://purl.obolibrary.org/obo/MONDO_0005080 MONDO:0032632 mitochondrial complex 1 deficiency, nuclear type 28 biolink:Disease mondo OMIM:618249 http://identifiers.org/omim/618249 http://purl.obolibrary.org/obo/MONDO_0032632 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28 MONDO:0017079 meningoencephalocele biolink:Disease mondo GARD:0003473|ICD10:Q01.2|ICD10:Q01.1|ICD10:Q01.0|SCTID:52330001|Orphanet:268820|ICD10:Q01.9|ICD10:Q01.8|NCIT:C124517|UMLS:C0009694 A congenital abnormality in which the meninges protrude through a defect in the cranium. SNOMEDCT:52330001|NCIT:C124517|UMLS:C0009694|ORPHA:268820 http://purl.obolibrary.org/obo/MONDO_0017079 meningoencephalocele|brain meninx cephalocele (disease)|cranial meningocele|encephalomeningocele|cephalocele (disease) of brain meninx gard_rare|ordo_morphological_anomaly MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 biolink:Disease mondo OMIM:618250 http://identifiers.org/omim/618250 http://purl.obolibrary.org/obo/MONDO_0032633 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29; MC1DN29 HGNC:22923 GMPPA biolink:OntologyClass mondo http://identifiers.org/hgnc/22923 MONDO:0032630 mitochondrial complex 1 deficiency, nuclear type 26 biolink:Disease mondo OMIM:618247 http://identifiers.org/omim/618247 http://purl.obolibrary.org/obo/MONDO_0032630 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26; MC1DN26 NCBITaxon:32524 Amniota organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_32524 amniotes MONDO:0032631 mitochondrial complex 1 deficiency, nuclear type 27 biolink:Disease mondo OMIM:618248 http://identifiers.org/omim/618248 http://purl.obolibrary.org/obo/MONDO_0032631 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27; MC1DN27 NCBITaxon:32523 Tetrapoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_32523 tetrapods MONDO:0017075 upper thoracic spina bifida cystica biolink:Disease mondo Orphanet:268770 ORPHA:268770 http://purl.obolibrary.org/obo/MONDO_0017075 ordo_clinical_subtype MONDO:0017076 posterior meningocele biolink:Disease mondo UMLS:CN202439|ICD10:Q05.9|ICD10:Q05.8|Orphanet:268810|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.4|ICD10:Q05.3|ICD10:Q05.2|ICD10:Q05.1 Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. UMLS:CN202439|ORPHA:268810 http://purl.obolibrary.org/obo/MONDO_0017076 ordo_morphological_anomaly GO:0032594 protein transport within lipid bilayer biolink:OntologyClass mondo The directed movement of a protein from one location to another within a lipid bilayer. http://purl.obolibrary.org/obo/GO_0032594 protein translocation within membrane|receptor translocation within membrane|receptor transport within lipid bilayer MONDO:0017077 myelocystocele biolink:Disease mondo ICD10:Q05.2|ICD10:Q05.1|ICD10:Q05.0|SCTID:203994003|Orphanet:268813|ICD10:Q05.9|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.3 SNOMEDCT:203994003|ORPHA:268813 http://purl.obolibrary.org/obo/MONDO_0017077 ordo_morphological_anomaly MONDO:0017078 cephalocele (disease) biolink:Disease mondo ICD10:Q01.9|Orphanet:268817|ICD10:Q01.8|ICD10:Q01.2|HP:0011815|ICD10:Q01.0|SCTID:55999004|ICD10:Q01.1|ICD9:742.0|NCIT:C84687 A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. NCIT:C84687|SNOMEDCT:55999004|ORPHA:268817 http://purl.obolibrary.org/obo/MONDO_0017078 cranium bifidum|encephalocele|cephalocele|encephalocele ordo_group_of_disorders GO:0032592 integral component of mitochondrial membrane biolink:OntologyClass mondo The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/GO_0032592 integral to mitochondrial membrane MONDO:0017060 open iniencephaly biolink:Disease mondo SCTID:203928008|ICD10:Q00.2|Orphanet:268363 ORPHA:268363|SNOMEDCT:203928008|UMLS:C0431285 http://purl.obolibrary.org/obo/MONDO_0017060 ordo_clinical_subtype MONDO:0017061 closed iniencephaly biolink:Disease mondo Orphanet:268366|SCTID:203927003|ICD10:Q00.2 ORPHA:268366|SNOMEDCT:203927003|UMLS:C0431286 http://purl.obolibrary.org/obo/MONDO_0017061 ordo_clinical_subtype MONDO:0017062 spina bifida aperta biolink:Disease mondo ICD10:Q05.9|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.5|Orphanet:268369|UMLS:CN202421|ICD10:Q05.4|ICD10:Q05.3|ICD10:Q05.2|ICD10:Q05.1|ICD10:Q05.0|SCTID:58557008 SNOMEDCT:58557008|UMLS:CN202421|ORPHA:268369 http://purl.obolibrary.org/obo/MONDO_0017062 ordo_morphological_anomaly MONDO:0032639 deafness, autosomal recessive 112 biolink:Disease mondo OMIM:618257 http://identifiers.org/omim/618257 http://purl.obolibrary.org/obo/MONDO_0032639 DEAFNESS, AUTOSOMAL RECESSIVE 112; DFNB112 MONDO:0017063 total spina bifida aperta biolink:Disease mondo UMLS:CN202422|Orphanet:268377 UMLS:CN202422|ORPHA:268377 http://purl.obolibrary.org/obo/MONDO_0017063 ordo_clinical_subtype MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 biolink:Disease mondo OMIM:618253 http://identifiers.org/omim/618253 http://purl.obolibrary.org/obo/MONDO_0032636 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33; MC1DN33 MONDO:0032637 ciliary dyskinesia, primary, 39 biolink:Disease mondo OMIM:618254 http://identifiers.org/omim/618254 http://purl.obolibrary.org/obo/MONDO_0032637 CILIARY DYSKINESIA, PRIMARY, 39; CILD39|Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 biolink:Disease mondo OMIM:618251 http://identifiers.org/omim/618251 http://purl.obolibrary.org/obo/MONDO_0032634 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31 FOODON:03411021 fish or lower water animal biolink:OntologyClass mondo An aquatic animal is an animal, either vertebrate or invertebrate, which lives in the water for most or all of its lifetime. http://purl.obolibrary.org/obo/FOODON_03411021 MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 biolink:Disease mondo OMIM:618252 http://identifiers.org/omim/618252 http://purl.obolibrary.org/obo/MONDO_0032635 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32; MC1DN32 MONDO:0044621 16p12.1p12.3 triplication syndrome biolink:Disease mondo Orphanet:485405 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. ORPHA:485405 http://purl.obolibrary.org/obo/MONDO_0044621 tetrasomy 16p12.1-p12.3|trip(16)(p12.1p12.3)|tetrasomy 16p12.1p12.3 ordo_malformation_syndrome HGNC:10955 SLCO2A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10955 MONDO:0044622 EMILIN-1-related connective tissue disease biolink:Disease mondo Orphanet:485418 ORPHA:485418 http://purl.obolibrary.org/obo/MONDO_0044622 ordo_disease MONDO:0005097 squamous cell lung carcinoma biolink:Disease mondo ONCOTREE:LUSC|NCIT:C3493|SCTID:254634000|DOID:3907|UMLS:C0149782|EFO:0000708|ICD9:162.9 A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma. UMLS:C0149782|NCIT:C3493|SNOMEDCT:254634000|DOID:3907 http://purl.obolibrary.org/obo/MONDO_0005097 squamous cell lung carcinoma|squamous cell lung cancer|epidermoid cell carcinoma of the lung|squamous cell carcinoma of the lung|lung squamous cell carcinoma|epidermoid cell lung carcinoma|epidermoid cell carcinoma of lung|squamous cell carcinoma of lung MONDO:0005096 squamous cell carcinoma biolink:Disease mondo MESH:D002294|ICDO:8070/3|GARD:0001091|NCIT:C2929|UMLS:C0007137|EFO:0000707|DOID:1749|SCTID:402815007 A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. MESH:D002294|SNOMEDCT:402815007|NCIT:C2929|UMLS:C0007137|DOID:1749 http://purl.obolibrary.org/obo/MONDO_0005096 squamous cell carcinoma|malignant epidermoid cell neoplasm|squamous cell epithelioma|carcinoma, squamous cell, malignant|squamous cell carcinoma NOS (morphologic abnormality)|malignant squamous cell tumor|squamous cell carcinoma (morphologic abnormality)|squamous carcinoma|malignant epidermoid cell tumor|malignant squamous cell neoplasm|squamous cell cancer|epidermoid cell cancer|epidermoid carcinoma MONDO:0005099 subarachnoid hemorrhage (disease) biolink:Disease mondo EFO:0000713|SCTID:21454007|UMLS:C0038525|COHD:432923|MESH:D013345|ICD9:430|HP:0002138 Intracranial hemorrhage into the subarachnoid space. MESH:D013345|UMLS:C0038525|NCIT:C50757|SNOMEDCT:21454007 http://purl.obolibrary.org/obo/MONDO_0005099 subarachnoid hemorrhage HGNC:10959 SLCO1B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10959 MONDO:0005098 stroke disorder biolink:Disease mondo EFO:0000712|NCIT:C3390|SCTID:230690007|MESH:D020521|NIFSTD:birnlex_12783|HP:0001297 A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. NCIT:C3390|SNOMEDCT:230690007|MESH:D020521 http://purl.obolibrary.org/obo/MONDO_0005098 cerebral infarction|CVA|CVA, cerebrovascular accident|cerebrovascular accident|undetermined stroke|syndrome, stroke|cerebrovascular accident, (CVA)|stroke syndrome|stroke MONDO:0005093 skin disease biolink:Disease mondo ICD9:702.8|DOID:37|SCTID:95320005|MESH:D012871|ICD9:709.8|ICD9:702|NCIT:C3371|EFO:0000701 Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. MESH:D012871|DOID:37|SNOMEDCT:95320005|NCIT:C3371 http://purl.obolibrary.org/obo/MONDO_0005093 disease of zone of skin|disorder of skin|disease or disorder of zone of skin|disorder of zone of skin|skin disorder|zone of skin disease|dermatosis|skin diseases and manifestations|genodermatosis|zone of skin disease or disorder|disorder of zone of skin|cutaneous disorder|skin and subcutaneous tissue disease MONDO:0044618 CLCN4-related X-linked intellectual disability syndrome biolink:Disease mondo Orphanet:485350 ORPHA:485350 http://purl.obolibrary.org/obo/MONDO_0044618 ordo_malformation_syndrome NCBITaxon:32519 Ostariophysi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_32519 MONDO:0005092 signet ring cell carcinoma biolink:Disease mondo NCIT:C3774|ICDO:8490/3|EFO:0000698|DOID:3493|MESH:D018279|UMLS:C0206696 A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland. NCIT:C3774|UMLS:C0206696|DOID:3493|MESH:D018279 http://purl.obolibrary.org/obo/MONDO_0005092 signet ring cell carcinoma (morphologic abnormality)|signet ring cell adenocarcinoma|signet ring cell carcinoma|signet ring carcinoma NOS (morphologic abnormality)|signet ring carcinoma MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome biolink:Disease mondo Orphanet:482606 ORPHA:482606 http://purl.obolibrary.org/obo/MONDO_0044617 ordo_malformation_syndrome HGNC:10961 SLCO1B3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10961 MONDO:0005095 spondyloarthropathy biolink:Disease mondo NCIT:C116778|DOID:1123|GARD:0004971|EFO:0000706 A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. NCIT:C116778|DOID:1123 http://purl.obolibrary.org/obo/MONDO_0005095 spondyloarthritis|spondylarthropathy|spondylarthrosis|seronegative spondyloarthropathy|spondarthropathy gard_rare MONDO:0005094 hemangiopericytoma biolink:Disease mondo DOID:264|MESH:D006393|SCTID:134335004|NCIT:C3087|ICDO:9150/1 An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. SNOMEDCT:134335004|DOID:264|MESH:D006393|NCIT:C3087 http://purl.obolibrary.org/obo/MONDO_0005094 hemangiopericytoma, malignant|haemangiopericytic meningioma|malignant hemangiopericytoma|hemangiopericytoma, malignant (morphologic abnormality)|haemangiopericytic meningioma [obs]|hemangiopericytoma MONDO:0044619 propylthiouracil embryofetopathy biolink:Disease mondo Orphanet:485358 Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects). ORPHA:485358 http://purl.obolibrary.org/obo/MONDO_0044619 propylthiouracil embryopathy|PTU embryopathy|PTU embryofetopathy ordo_malformation_syndrome MONDO:0029042 obsolete ureteropelvic junction obstruction biolink:Disease mondo DOID:0111145 DOID:0111145 http://purl.obolibrary.org/obo/MONDO_0029042 HGNC:10964 SLC22A18 biolink:OntologyClass mondo http://identifiers.org/hgnc/10964 MONDO:0005091 severe acute respiratory syndrome biolink:Disease mondo ICD10:U04.9|ICD10:J12.81|MESH:D045169|NCIT:C85064|EFO:0000694|SCTID:398447004|DOID:2945|MedDRA:10061982|ICD9:079.82|GARD:0009237|Orphanet:140896|UMLS:C1175175 A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death. UMLS:C1175175|ORPHA:140896|NCIT:C85064|SNOMEDCT:398447004|DOID:2945|MESH:D045169|MEDDRA:10061982 http://purl.obolibrary.org/obo/MONDO_0005091 SARS coronavirus caused disease or disorder|acute respiratory coronavirus infection|SARS|SARS coronavirus disease or disorder|SARS-CoV infection|SARS coronavirus infectious disease ordo_disease MONDO:0005090 schizophrenia (disease) biolink:Disease mondo ICD9:295|NCIT:C3362|ICD9:295.90|ICD9:295.9|OMIM:181500|SCTID:58214004|ICD9:295.80|EFO:0000692|DOID:5419|HP:0100753|ICD9:295.85|NIFSTD:birnlex_2104|ICD9:295.8 A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. DOID:5419|http://identifiers.org/omim/181500|SNOMEDCT:58214004|NCIT:C3362 http://purl.obolibrary.org/obo/MONDO_0005090 schizophrenia with or without an affective disorder|schizophrenia|schizophrenia-1|SCZD|schizophrenia; SCZD|schizoaffective disorder MONDO:0032643 pontocerebellar hypoplasia, type 12 biolink:Disease mondo OMIM:618266 http://identifiers.org/omim/618266 http://purl.obolibrary.org/obo/MONDO_0032643 PONTOCEREBELLAR HYPOPLASIA, TYPE 12; PCH12 MONDO:0017068 upper thoracic spina bifida aperta biolink:Disease mondo UMLS:CN202428|Orphanet:268740 UMLS:CN202428|ORPHA:268740 http://purl.obolibrary.org/obo/MONDO_0017068 ordo_clinical_subtype MONDO:0017069 spina bifida cystica biolink:Disease mondo ICD10:Q05.2|ICD10:Q05.1|ICD10:Q05.0|MedDRA:10071011|NCIT:C101201|ICD10:Q05.9|ICD10:Q05.8|MESH:D016137|Orphanet:268744|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.3 A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. MESH:D016137|MEDDRA:10071011|ORPHA:268744|NCIT:C101201|UMLS:C0037917 http://purl.obolibrary.org/obo/MONDO_0017069 myelomeningocele|spina bifida aperta|myelomeningocele|open spina bifida|spina bifida manifesta|meningomyelocele|spina bifida, open ordo_group_of_disorders MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 biolink:Disease mondo OMIM:618267 http://identifiers.org/omim/618267 http://purl.obolibrary.org/obo/MONDO_0032644 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3 MONDO:0032641 mirror movements 4 biolink:Disease mondo OMIM:618264 http://identifiers.org/omim/618264 http://purl.obolibrary.org/obo/MONDO_0032641 MIRROR MOVEMENTS 4; MRMV4 MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development biolink:Disease mondo OMIM:618265 http://identifiers.org/omim/618265 http://purl.obolibrary.org/obo/MONDO_0032642 ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; ACCIID MONDO:0017064 thoracolumbosacral spina bifida aperta biolink:Disease mondo Orphanet:268384|UMLS:CN202423 UMLS:CN202423|ORPHA:268384 http://purl.obolibrary.org/obo/MONDO_0017064 ordo_clinical_subtype MONDO:0017065 lumbosacral spina bifida aperta biolink:Disease mondo UMLS:CN202424|Orphanet:268388 UMLS:CN202424|ORPHA:268388 http://purl.obolibrary.org/obo/MONDO_0017065 ordo_clinical_subtype HGNC:22938 NLRP12 biolink:OntologyClass mondo http://identifiers.org/hgnc/22938 MONDO:0017066 cervical spina bifida aperta biolink:Disease mondo ICD9:741.91|SCTID:425687007|Orphanet:268392|UMLS:CN202425 UMLS:CN202425|SNOMEDCT:425687007|ORPHA:268392 http://purl.obolibrary.org/obo/MONDO_0017066 ordo_clinical_subtype MONDO:0017067 cervicothoracic spina bifida aperta biolink:Disease mondo Orphanet:268397|UMLS:CN202426 UMLS:CN202426|ORPHA:268397 http://purl.obolibrary.org/obo/MONDO_0017067 ordo_clinical_subtype MONDO:0017050 intraocular medulloepithelioma biolink:Disease mondo UMLS:CN202409|NCIT:C66806|Orphanet:268139|UMLS:C1883694 Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations. NCIT:C66806|ORPHA:268139|UMLS:CN202409|UMLS:C1883694 http://purl.obolibrary.org/obo/MONDO_0017050 orbital medulloepithelioma|intraocular medulloepithelioma ordo_disease MONDO:0032649 hypotrichosis 14 biolink:Disease mondo OMIM:618275 http://identifiers.org/omim/618275 http://purl.obolibrary.org/obo/MONDO_0032649 HYPOTRICHOSIS 14; HYPT14 MONDO:0017051 classic maple syrup urine disease biolink:Disease mondo ICD10:E71.0|Orphanet:268145 Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. UMLS:C0268568|ORPHA:268145 http://purl.obolibrary.org/obo/MONDO_0017051 classic branched-chain ketoaciduria|classic MSUD|classic BCKD deficiency|classic branched-chain 2-ketoacid dehydrogenase deficiency|classic branched-chain alpha-ketoacid dehydrogenase deficiency ordo_clinical_subtype MONDO:0017052 intermediate maple syrup urine disease biolink:Disease mondo Orphanet:268162|SCTID:405287008|ICD10:E71.0 Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. SNOMEDCT:405287008|ORPHA:268162|UMLS:C1621920 http://purl.obolibrary.org/obo/MONDO_0017052 Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency|Intermediate MSUD|Intermediate BCKD deficiency|Intermediate branched-chain 2-ketoacid dehydrogenase deficiency ordo_clinical_subtype MONDO:0032647 global developmental delay, lung cysts, overgrowth, and wilms tumor biolink:Disease mondo OMIM:618272 http://identifiers.org/omim/618272 http://purl.obolibrary.org/obo/MONDO_0032647 GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW|Glow Syndrome MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations biolink:Disease mondo OMIM:618273 http://identifiers.org/omim/618273 http://purl.obolibrary.org/obo/MONDO_0032648 MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM MONDO:0032645 trichohepatoneurodevelopmental syndrome biolink:Disease mondo OMIM:618268 http://identifiers.org/omim/618268 http://purl.obolibrary.org/obo/MONDO_0032645 TRICHOHEPATONEURODEVELOPMENTAL SYNDROME; THNS MONDO:0032646 congenital anomalies of kidney and urinary tract 3 biolink:Disease mondo OMIM:618270 http://identifiers.org/omim/618270 http://purl.obolibrary.org/obo/MONDO_0032646 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3; CAKUT3 ENVO:00003075 obsolete anthropogenic abiotic mesoscopic feature biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_00003075 ENVO:00003074 manufactured product biolink:OntologyClass mondo A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. http://purl.obolibrary.org/obo/ENVO_00003074 manufactured good MONDO:0005068 myocardial infarction (disease) biolink:Disease mondo EFO:0000612|DOID:5844|NCIT:C27996|ICD10:I21|MESH:D009203|SCTID:22298006|ICD10:I22|UMLS:C0027051|HP:0001658 Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. SNOMEDCT:22298006|NCIT:C27996|UMLS:C0027051|MESH:D009203|DOID:5844 http://purl.obolibrary.org/obo/MONDO_0005068 myocardial infarction|heart attack|myocardial infarction, (MI)|infarction (MI), myocardial|myocardial infarct|MI, myocardial infarction|MI MONDO:0044632 extracranial carotid artery aneurysm biolink:Disease mondo Orphanet:494424 ORPHA:494424 http://purl.obolibrary.org/obo/MONDO_0044632 Ecca|ECAA ordo_morphological_anomaly MONDO:0005067 monophasic synovial sarcoma biolink:Disease mondo UMLS:C1334801|NCIT:C6534|EFO:0000595|DOID:5495 A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only. NCIT:C6534|UMLS:C1334801|DOID:5495 http://purl.obolibrary.org/obo/MONDO_0005067 monophasic synovial sarcoma|monophasic sarcoma of synovium|monophasic sarcoma of the synovium MONDO:0044631 early-onset familial noncirrhotic portal hypertension biolink:Disease mondo Orphanet:494348 ORPHA:494348 http://purl.obolibrary.org/obo/MONDO_0044631 ordo_disease MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome biolink:Disease mondo OMIM:617763|UMLS:C4540367|Orphanet:494439 http://identifiers.org/omim/617763|UMLS:C4540367|ORPHA:494439 http://purl.obolibrary.org/obo/MONDO_0044634 retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome ordo_malformation_syndrome HGNC:10922 SLC16A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10922 HGNC:10923 SLC16A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10923 MONDO:0005069 obsolete narcolepsy with cataplexy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005069 MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis biolink:Disease mondo Orphanet:494428 ORPHA:494428 http://purl.obolibrary.org/obo/MONDO_0044633 idiopathic pleuropulmonary fibroelastosis|IPPFE ordo_disease MONDO:0005064 obsolete infectious meningitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005064 MONDO:0005063 medullary breast carcinoma biolink:Disease mondo EFO:0000580|DOID:5605|NCIT:C9119|UMLS:C0860580|ICDO:8512/3 An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent. NCIT:C9119|DOID:5605|UMLS:C0860580 http://purl.obolibrary.org/obo/MONDO_0005063 medullary breast cancer|infiltrating medullary carcinoma of breast|infiltrating medullary carcinoma of the breast|medullary breast carcinoma|medullary breast carcinoma with lymphoid Stroma|invasive medullary carcinoma of breast|invasive medullary carcinoma of the breast|invasive medullary breast carcinoma|medullary carcinoma of breast|breast medullary carcinoma|medullary carcinoma of the breast MONDO:0005066 metabolic disease biolink:Disease mondo ICD9:277.8|ICD9:277.9|UMLS:C0025517|ICD10:E70.E90|COHD:436670|DOID:0014667|NCIT:C3235|EFO:0000589|MESH:D008659|ICD10:E88.9|SCTID:75934005 A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. DOID:0014667|NCIT:C3235|UMLS:C0025517|MESH:D008659|SNOMEDCT:75934005 http://purl.obolibrary.org/obo/MONDO_0005066 disease of metabolism|disorder of metabolic process|metabolic disorder|disorder of metabolic process|metabolic disease|metabolic process disease MONDO:0044630 obsolete rere-related neurodevelopmental syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044630 MONDO:0005065 mesothelioma biolink:Disease mondo UMLS:C0025500|MESH:D008654|EFO:0000588|NCIT:C3234|ICD10:C45 A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos. NCIT:C3234|UMLS:C0025500|MESH:D008654 http://purl.obolibrary.org/obo/MONDO_0005065 mesothelioma MONDO:0005060 liposarcoma biolink:Disease mondo MedDRA:10024627|ONCOTREE:LIPO|SCTID:254829001|EFO:0000569|ICD9:171.9|Orphanet:69078|MESH:D008080|ICDO:8850/3|DOID:3382|UMLS:C0023827|GARD:0006913|NCIT:C3194|ICD10:C49.9 A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. NCIT:C3194|ORPHA:69078|MEDDRA:10024627|MESH:D008080|SNOMEDCT:254829001|DOID:3382|UMLS:C0023827 http://purl.obolibrary.org/obo/MONDO_0005060 liposarcoma|liposarcoma, malignant|sarcoma of lip|lip sarcoma|liposarcoma not otherwise specified gard_rare|ordo_disease MONDO:0044629 congenital amyoplasia biolink:Disease mondo Orphanet:488586 ORPHA:488586 http://purl.obolibrary.org/obo/MONDO_0044629 amyoplasia congenita ordo_malformation_syndrome MONDO:0044628 six2-related frontonasal dysplasia biolink:Disease mondo Orphanet:488437 ORPHA:488437 http://purl.obolibrary.org/obo/MONDO_0044628 SIX2-related FND ordo_malformation_syndrome MONDO:0005062 lymphoma biolink:Disease mondo COHD:432571|ICD9:202.80|ICD10:C85.9|ICD9:200.1|GARD:0011955|ICD9:200.0|MESH:D008223|UMLS:C0024299|DOID:0060058|Orphanet:223735|NCIT:C3208|MedDRA:10025310|EFO:0000574|SCTID:118600007|ONCOTREE:MLYM|ICDO:9590/3 A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. SNOMEDCT:118600007|ORPHA:223735|NCIT:C3208|MEDDRA:10025310|MESH:D008223|UMLS:C0024299|DOID:0060058 http://purl.obolibrary.org/obo/MONDO_0005062 malignant lymphoma|lymphomatous|lymphoma (Hodgkin's and non-Hodgkin's)|lymphoma|lymphoma, malignant|lymphoma, NOS|MLYM|lymphoma (Hodgkin and non-Hodgkin)|lymphoid cancer ordo_group_of_disorders MONDO:0005061 lung adenocarcinoma biolink:Disease mondo ONCOTREE:LUAD|DOID:3910|UMLS:C0152013|MESH:C538231|EFO:0000571|NCIT:C3512|GARD:0005742|SCTID:254626006|EFO:0005288 A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. UMLS:C0152013|SNOMEDCT:254626006|NCIT:C3512|MESH:C538231|DOID:3910 http://purl.obolibrary.org/obo/MONDO_0005061 lung adenocarcinoma|bronchogenic lung adenocarcinoma|adenocarcinoma of lung|non-small cell lung adenocarcinoma|nonsmall cell adenocarcinoma|adenocarcinoma of the lung gard_rare MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation biolink:Disease mondo Orphanet:487814 ORPHA:487814 http://purl.obolibrary.org/obo/MONDO_0044625 CMT2 due to DGAT2 mutation ordo_disease MONDO:0044624 pediatric collagenous gastritis biolink:Disease mondo Orphanet:487809 ORPHA:487809 http://purl.obolibrary.org/obo/MONDO_0044624 childhood-onset collagenous gastritis ordo_disease MONDO:0044627 acute macular neuroretinopathy biolink:Disease mondo Orphanet:488239 ORPHA:488239 http://purl.obolibrary.org/obo/MONDO_0044627 AMNR ordo_disease MONDO:0020699 biotin metabolic disease biolink:Disease mondo A deficiency in biotin through either inherited or acquired causes. http://purl.obolibrary.org/obo/MONDO_0020699 MONDO:0044626 female infertility due to oocyte meiotic arrest biolink:Disease mondo Orphanet:488191 ORPHA:488191 http://purl.obolibrary.org/obo/MONDO_0044626 ordo_disease MONDO:0017057 hereditary thrombocytopenia with normal platelets biolink:Disease mondo Orphanet:268322|UMLS:CN227073|ICD10:D69.4 UMLS:CN227073|ORPHA:268322 http://purl.obolibrary.org/obo/MONDO_0017057 ordo_disease MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive biolink:Disease mondo OMIM:618282 http://identifiers.org/omim/618282 http://purl.obolibrary.org/obo/MONDO_0032654 HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE; HIES3 MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease biolink:Disease mondo GARD:0012452|UMLS:CN202416|ICD10:G60.0|Orphanet:268337 Autosomal recessive form of intermediate Charcot-Marie-Tooth disease. UMLS:CN202416|ORPHA:268337 http://purl.obolibrary.org/obo/MONDO_0017058 intermediate Charcot-Marie-Tooth disease, autosomal recessive|RI-CMT|autosomal recessive intermediate Charcot-Marie-Tooth disease gard_rare|ordo_group_of_disorders MONDO:0032655 visual impairment and progressive phthisis bulbi biolink:Disease mondo OMIM:618283 http://identifiers.org/omim/618283 http://purl.obolibrary.org/obo/MONDO_0032655 VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI; VIPB MONDO:0017059 neural tube closure defect biolink:Disease mondo Orphanet:268357 A disease that has its basis in the disruption of neural tube closure. ORPHA:268357 http://purl.obolibrary.org/obo/MONDO_0017059 neural tube closure disease|disorder of neural tube closure|disorder of neural tube closure ordo_group_of_disorders MONDO:0032653 cardiac-urogenital syndrome biolink:Disease mondo OMIM:618280 http://identifiers.org/omim/618280 http://purl.obolibrary.org/obo/MONDO_0032653 CARDIAC-UROGENITAL SYNDROME; CUGS MONDO:0017053 intermittent maple syrup urine disease biolink:Disease mondo SCTID:405288003|Orphanet:268173|ICD10:E71.0 Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. SNOMEDCT:405288003|UMLS:C0268569|ORPHA:268173 http://purl.obolibrary.org/obo/MONDO_0017053 intermittent MSUD|intermittent BCKD deficiency|intermittent branched-chain 2-ketoacid dehydrogenase deficiency|intermittent branched-chain alpha-ketoacid dehydrogenase deficiency ordo_clinical_subtype MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy biolink:Disease mondo OMIM:618276 http://identifiers.org/omim/618276 http://purl.obolibrary.org/obo/MONDO_0032650 NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY; CONDCA MONDO:0017054 thiamine-responsive maple syrup urine disease biolink:Disease mondo Orphanet:268184|ICD10:E71.0 Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine. ORPHA:268184 http://purl.obolibrary.org/obo/MONDO_0017054 thiamine-responsive MSUD|thiamine-responsive BCKD deficiency|thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency|thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency ordo_clinical_subtype MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis biolink:Disease mondo OMIM:618278 http://identifiers.org/omim/618278 http://purl.obolibrary.org/obo/MONDO_0032651 FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS; FINCA MONDO:0017055 mycophenolate mofetil embryopathy biolink:Disease mondo ICD10:Q86.8|UMLS:C4509879|Orphanet:268249|SCTID:723406000 Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. SNOMEDCT:723406000|ORPHA:268249|UMLS:C4509879 http://purl.obolibrary.org/obo/MONDO_0017055 MMF embryopathy ordo_disease MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion biolink:Disease mondo Orphanet:268261|UMLS:CN202414|ICD10:Q93.5 UMLS:CN202414|ORPHA:268261 http://purl.obolibrary.org/obo/MONDO_0017056 monosomy 21q22.13q22.2|Del(21)(q22.13q22.2)|monosomy 21q22.13-q22.2|21q22.13-q22.2 microdeletion syndrome|21q22.13q22.2 microdeletion syndrome ordo_clinical_subtype MONDO:0020690 adult glioblastoma biolink:Disease mondo NCIT:C9094 NCIT:C9094 http://purl.obolibrary.org/obo/MONDO_0020690 adult glioblastoma|adult glioblastoma multiforme|grade IV adult astrocytic tumor|glioblastoma|grade IV adult astrocytic neoplasm MONDO:0017040 exposure-related interstitial lung disease biolink:Disease mondo UMLS:CN202351|Orphanet:264984 ORPHA:264984|UMLS:CN202351 http://purl.obolibrary.org/obo/MONDO_0017040 ordo_group_of_disorders FOODON:03411047 grain or seed-producing plant biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03411047 MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome biolink:Disease mondo UMLS:CN202358|Orphanet:2653|SCTID:722108000 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. UMLS:CN202358|SNOMEDCT:722108000|ORPHA:2653 http://purl.obolibrary.org/obo/MONDO_0017041 Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome ordo_malformation_syndrome MONDO:0032658 macrocephaly, acquired, with impaired intellectual development biolink:Disease mondo OMIM:618286 http://identifiers.org/omim/618286 http://purl.obolibrary.org/obo/MONDO_0032658 Macrocephaly, Acquired, With Mental Retardation|MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID MONDO:0032659 mucocutaneous ulceration, chronic biolink:Disease mondo OMIM:618287 http://identifiers.org/omim/618287 http://purl.obolibrary.org/obo/MONDO_0032659 MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum biolink:Disease mondo OMIM:618284 http://identifiers.org/omim/618284 http://purl.obolibrary.org/obo/MONDO_0032656 MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM; MCIDDS MONDO:0032657 developmental and epileptic encephalopathy, 69 biolink:Disease mondo OMIM:618285 http://identifiers.org/omim/618285 http://purl.obolibrary.org/obo/MONDO_0032657 epileptic encephalopathy, early infantile, 69|DEE69|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69; EIEE69 MONDO:0005079 polyp biolink:Disease mondo ICD10:N84|SCTID:441456002|NCIT:C3340|EFO:0000662|MESH:D011127 A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. SNOMEDCT:441456002|NCIT:C3340|MESH:D011127 http://purl.obolibrary.org/obo/MONDO_0005079 polyp MONDO:0020698 inborn error of biotin metabolism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020698 MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome biolink:Disease mondo Orphanet:495875 ORPHA:495875 http://purl.obolibrary.org/obo/MONDO_0044643 congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ordo_malformation_syndrome MONDO:0005078 phyllodes tumor biolink:Disease mondo NCIT:C2977|EFO:0000653|MESH:D003557 A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors. MESH:D003557|NCIT:C2977 http://purl.obolibrary.org/obo/MONDO_0005078 CSP|phyllodes neoplasm|phyllodes tumor|cystosarcoma phyllodes MONDO:0020697 lung epithelial-myoepithelial carcinoma biolink:Disease mondo NCIT:C45545 A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative. NCIT:C45545 http://purl.obolibrary.org/obo/MONDO_0020697 lung epithelial-myoepithelial carcinoma|lung epithelial-myoepithelial cancer MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy biolink:Disease mondo Orphanet:495844 ORPHA:495844 http://purl.obolibrary.org/obo/MONDO_0044642 hypomyelinating leukodystrophy due to hikeshi deficiency|C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy ordo_disease HGNC:10936 SLC18A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10936 MONDO:0020696 vitamin B12 deficiency biolink:Disease mondo ICD9:266.2|NCIT:C131684|SCTID:190634004|UMLS:C0042847|HP:0100502|MESH:D014806 A disease characterized by low serum levels of vitamin B12, either inherited or acquired. MESH:D014806|UMLS:C0042847|NCIT:C131684|SNOMEDCT:190634004 http://purl.obolibrary.org/obo/MONDO_0020696 cobalamin deficiency|vitamin b12 deficiency|hypocobalaminemia MONDO:0044645 familial monosomy 7 syndrome biolink:Disease mondo Orphanet:495930 ORPHA:495930 http://purl.obolibrary.org/obo/MONDO_0044645 ordo_disease HGNC:10933 SLC17A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/10933 MONDO:0044644 congenital agenesis of the scrotum biolink:Disease mondo Orphanet:495879 ORPHA:495879 http://purl.obolibrary.org/obo/MONDO_0044644 congenital absence of the scrotum|congenital scrotal absence|congenital scrotal agenesis ordo_morphological_anomaly MONDO:0020695 hypotonic cerebral palsy biolink:Disease mondo SCTID:192958009|NCIT:C116906 A type of cerebral palsy characterized by decreased muscle tone. SNOMEDCT:192958009|NCIT:C116906 http://purl.obolibrary.org/obo/MONDO_0020695 hypotonic cerebral palsy ENVO:00003082 enriched soil biolink:OntologyClass mondo A portion of enriched soil is a portion of soil with elevated levels of some material entity. http://purl.obolibrary.org/obo/ENVO_00003082 MONDO:0005075 thyroid gland papillary carcinoma biolink:Disease mondo HP:0002895|NCIT:C4035|SCTID:255029007|EFO:0000641|ONCOTREE:THPA|UMLS:C0238463|DOID:3969|GARD:0012027 A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. NCIT:C4035|UMLS:C0238463|SNOMEDCT:255029007|DOID:3969 http://purl.obolibrary.org/obo/MONDO_0005075 thyroid gland papillary carcinoma|papillary thyroid gland carcinoma|papillary thyroid carcinoma|thyroid papillary carcinoma|papillary carcinoma of thyroid gland|papillary carcinoma of the thyroid|papillary carcinoma of thyroid|papillary cancer of the thyroid gland|papillary thyroid cancer|papillary cancer of thyroid gland|thyroid gland papillary cancer|papillary cancer of the thyroid|papillary cancer of thyroid|papillary carcinoma of the thyroid gland MONDO:0020694 salivary gland epithelial myoepithelial carcinoma biolink:Disease mondo NCIT:C35701 A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells. NCIT:C35701 http://purl.obolibrary.org/obo/MONDO_0020694 salivary gland epithelial myoepithelial carcinoma HGNC:10939 SLC1A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/10939 MONDO:0005074 papillary cystadenocarcinoma biolink:Disease mondo UMLS:C0206700|ICDO:8450/3|NCIT:C3777|MESH:D018283|EFO:0000639|DOID:3110|GARD:0010162 A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. NCIT:C3777|DOID:3110|UMLS:C0206700|MESH:D018283 http://purl.obolibrary.org/obo/MONDO_0005074 cystadenocarcinoma, papillary, malignant|papillary cystadenocarcinoma|papillary cystadenocarcinoma, NOS (morphologic abnormality)|papillary cystadenocarcinoma (morphologic abnormality) gard_rare MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency biolink:Disease mondo ICD10:E74.0|Orphanet:264580 A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood. ORPHA:264580 http://purl.obolibrary.org/obo/MONDO_0020693 ordo_disease MONDO:0005077 pertussis biolink:Disease mondo SCTID:27836007|ICD9:033.0|NCIT:C85231|DOID:1116|ICD10:A37.0|MedDRA:10047974|ICD10:A37.1|GARD:0008692|ICD9:033.9|ICD9:033|ICD10:A37.9|MESH:D014917|Orphanet:1489|ICD10:A37.8|COHD:257778|KEGG:05133|EFO:0000650|MedDRA:10034738|UMLS:C0043167 A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. NCIT:C85231|SNOMEDCT:27836007|UMLS:C0043167|ORPHA:1489|MESH:D014917|MEDDRA:10034738|MEDDRA:10047974|DOID:1116 http://purl.obolibrary.org/obo/MONDO_0005077 Bordetella pertussis disease or disorder|Bordetella infection|infection due to Bordetella pertussis|whooping cough|pertussis|Bordetella pertussis infectious disease|Bordetella pertussis caused disease or disorder|Bordetella pertussis infection|WC - whooping cough ordo_disease|gard_rare MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive biolink:Disease mondo OMIM:277300 http://identifiers.org/omim/277300 http://purl.obolibrary.org/obo/MONDO_0020692 vertebral anomalies|SCDO1|spondylocostal dysostosis 1, autosomal recessive; SCDO1|spondylothoracic dysplasia|spondylothoracic dysostosis MONDO:0044641 9q33.3q34.11 microdeletion syndrome biolink:Disease mondo Orphanet:495818 ORPHA:495818 http://purl.obolibrary.org/obo/MONDO_0044641 monosomy 9q33.3-q34.11|9q33.3-q34.11 microdeletion syndrome|Del(9)(q33.3q34.11)|monosomy 9q33.3q34.11|deletion 9q33.3q34.11 ordo_malformation_syndrome MONDO:0044640 charcot-marie-tooth disease type 2T biolink:Disease mondo UMLS:CN237675|Orphanet:495274 ORPHA:495274|UMLS:CN237675 http://purl.obolibrary.org/obo/MONDO_0044640 CMT2T|AR-CMT2T|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T ordo_disease HGNC:10938 SLC19A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10938 MONDO:0005076 periodontitis biolink:Disease mondo UMLS:C0600298|DOID:9893|ICD9:523.5|ICD10:K05.3|SCTID:41565005|NCIT:C34918|EFO:0000649|DOID:824|UMLS:C0031099|MESH:D010518|COHD:141608|ICD10:K05.4 An acute or chronic inflammatory process that affects the tissues that surround and support the teeth. DOID:9893|UMLS:C0031099|DOID:824|NCIT:C34918|UMLS:C0600298|MESH:D010518|SNOMEDCT:41565005 http://purl.obolibrary.org/obo/MONDO_0005076 chronic pericementitis|inflammation of periodontium|periodontosis|periodontium inflammation MONDO:0020691 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020691 MONDO:0005071 nervous system disorder biolink:Disease mondo SCTID:118940003|ICD10:G98|ICD10:G00-G99|ICD10:G98.8|NCIT:C26835|MESH:D009422|Wikipedia:Nervous_system_disease|ICD9:349.89|ICD9:349.9|DOID:863|EFO:0000618|UMLS:C0027765|ICD10:G00.G99 A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. NCIT:C26835|SNOMEDCT:118940003|UMLS:C0027765|MESH:D009422|DOID:863 http://purl.obolibrary.org/obo/MONDO_0005071 disorder of nervous system|nervous system disorder|nervous system disease or disorder|neurological disorder|disorder of nervous system|disease of nervous system|neurologic disease|disease or disorder of nervous system|nervous system disease|neurologic disorder|neurological disease MONDO:0005070 neoplasm (disease) biolink:Disease mondo UMLS:CN236628|ICD9:239.9|ICD10:C00.D48|COHD:438112|SCTID:55342001|ICD9:140-239.99|ICD9:239.8|MESH:D009369|NCIT:C3262|HP:0002664|ONCOTREE:OTHER|EFO:0000616|DOID:14566 A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. NCIT:C3262|MESH:D009369|SNOMEDCT:55342001|DOID:14566|UMLS:CN236628 http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm|cell process disease|neoplastic disease|disease of cellular proliferation|neoplastic growth|tumor|tumor disease|neoplasia|other neoplasm MONDO:0005073 melanocytic nevus biolink:Disease mondo EFO:0000625|SCTID:400096001|COHD:4271013|MESH:D009506|Wikipedia:Nevus|NCIT:C7570 A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. SNOMEDCT:400096001|MESH:D009506|NCIT:C7570 http://purl.obolibrary.org/obo/MONDO_0005073 melanocytic Nevus|mole of skin|nevus|melanotic Nevus|mole MONDO:0005072 neuroblastoma biolink:Disease mondo DOID:769|EFO:0000621|NIFSTD:birnlex_12631|MESH:D009447|ICDO:9500/3|MedDRA:10029260|NCIT:C3270|Orphanet:635|GARD:0007185|UMLS:CN205405|ONCOTREE:NBL|ICD10:C74.9|UMLS:C0027819|SCTID:432328008 Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system. NCIT:C3270|SNOMEDCT:432328008|UMLS:C0027819|MESH:D009447|MESH:C536408|DOID:769|ORPHA:635|MEDDRA:10029260|UMLS:C2931189|UMLS:CN205405 http://purl.obolibrary.org/obo/MONDO_0005072 neural Crest tumor, malignant|neuroblastoma|neuroblastoma, malignant|NB|neuroblastoma (Schwannian Stroma-poor) ordo_disease|gard_rare MONDO:0044636 rare hyperkinetic movement disorder biolink:Disease mondo Orphanet:494457 ORPHA:494457 http://purl.obolibrary.org/obo/MONDO_0044636 ordo_group_of_disorders|obsoletion_candidate HGNC:10942 SLC1A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/10942 MONDO:0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome biolink:Disease mondo Orphanet:494444 ORPHA:494444 http://purl.obolibrary.org/obo/MONDO_0044635 DIAPH1-related sensorineural deafness-thrombocytopenia syndrome ordo_disease MONDO:0044638 hypopharynx squamous cell carcinoma biolink:Disease mondo NCIT:C4043|ONCOTREE:HPHSC|Orphanet:494547|EFO:1001960 A squamous cell carcinoma that involves the hypopharynx. NCIT:C4043|ORPHA:494547 http://purl.obolibrary.org/obo/MONDO_0044638 hypopharyngeal squamous cell carcinoma|squamous cell carcinoma of the hypopharynx|hypopharyngeal throat squamous cell cancer|squamous cell carcinoma of hypopharynx|hypopharyngeal epidermoid carcinoma|epidermoid carcinoma of the hypopharynx|epidermoid carcinoma of hypopharynx ordo_disease MONDO:0020689 AIDS dementia complex biolink:Disease mondo EFO:0002608|ICD9:294.8|SCTID:421529006|UMLS:C0001849|NCIT:C2864|MESH:D015526|GARD:0008250 A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40) MESH:D015526|NCIT:C2864|UMLS:C0001849|SNOMEDCT:421529006 http://purl.obolibrary.org/obo/MONDO_0020689 HIV-1-Associated Cognitive Motor Complex|Dementia associated with AIDS|DEMENTIA COMPLEX AIDS RELAT|acquired immune deficiency syndrome-related dementia|AIDS related Dementia Complex|AIDS related cognitive impairment|HIV-associated dementia|ADC - Acquired immune deficiency syndrome dementia complex|Dementias, HIV|AIDS with dementia (disorder)|acquired immune deficiency syndrome dementia complex|AIDS dementia|HIV ASSOC COGNITIVE MOTOR COMPLEX|Acquired immune deficiency syndrome-related dementia|HIV associated cognitive and motor complex|HIV Dementia|Dementia Complex, AIDS|AIDS-related Dementia Complex|Dementia Complex, Acquired Immune Deficiency Syndrome|DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME|HIV Dementias|Encephalopathies, HIV|HIV Associated Cognitive Motor Complex|Dementia Complex, AIDS-related|AIDS Dementia|HIV-1 Cognitive and Motor Complex|AIDS RELAT DEMENTIA COMPLEX|HIV 1 Associated Cognitive Motor Complex|HIV Encephalopathy|AIDS - Acquired immune deficiency syndrome dementia complex|Complex, AIDS-related Dementia|Encephalopathy, AIDS|Encephalopathy, HIV|Acquired-Immune Deficiency Syndrome Dementia Complex|HIV-Associated Cognitive Motor Complex|Dementia Complex, AIDS related|Complex, AIDS Dementia|AIDS Encephalopathy|HIV Encephalopathies|HIV 1 Cognitive and Motor Complex|AIDS dementia complex|Encephalopathies, AIDS|ADC|Acquired immune deficiency syndrome dementia complex|AIDS Dementia Complex|Dementia, HIV|Dementia associated with acquired immunodeficiency syndrome|HIV encephalitis|AIDS Encephalopathies gard_rare HGNC:10940 SLC1A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/10940 MONDO:0020688 spinal cord ischemia biolink:Disease mondo MESH:D020760 Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue. MESH:D020760 http://purl.obolibrary.org/obo/MONDO_0020688 experimental spinal cord ischemia|spinal cord Ischemias|ischemic myelopathies|cord Ischemias, spinal|cord ischemia, spinal|ischemia, spinal cord|myelopathy, ischemic|myelopathies, ischemic|spinal cord ischemia, experimental|ischemias, spinal cord|ischemic myelopathy HGNC:10941 SLC1A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/10941 MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement biolink:Disease mondo Orphanet:494526 ORPHA:494526 http://purl.obolibrary.org/obo/MONDO_0044637 infantile-onset orofacial-trunk-limbs dyskinesia ordo_disease MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 biolink:Disease mondo OMIM:618302 http://identifiers.org/omim/618302 http://purl.obolibrary.org/obo/MONDO_0032665 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68; MRT68|Mental Retardation, Autosomal Recessive 68 FOODON:03411041 chemical food component biolink:OntologyClass mondo Any chemical or chemical mixture that exists in a food material or was added to a food material. http://purl.obolibrary.org/obo/FOODON_03411041 MONDO:0017046 neuroepithelioma biolink:Disease mondo ICD10:C71.9|Orphanet:2677|GARD:0003963 Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation. MESH:D018241|ORPHA:2677|UMLS:C0027828 http://purl.obolibrary.org/obo/MONDO_0017046 ordo_disease|gard_rare MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 biolink:Disease mondo OMIM:618307 http://identifiers.org/omim/618307 http://purl.obolibrary.org/obo/MONDO_0032666 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4 MONDO:0017047 infantile axonal neuropathy biolink:Disease mondo ICD10:G60.8|Orphanet:2679|GARD:0002996 ORPHA:2679 http://purl.obolibrary.org/obo/MONDO_0017047 ordo_disease|gard_rare MONDO:0030004 autism, susceptibility to, 20 biolink:Disease mondo OMIM:618830 http://identifiers.org/omim/618830 http://purl.obolibrary.org/obo/MONDO_0030004 AUTS20|AUTISM, SUSCEPTIBILITY TO, 20; AUTS20|autism, susceptibility to, 20 MONDO:0017048 pseudomyxoma peritonei biolink:Disease mondo MESH:D011553|GARD:0007488|EFO:0007456|SCTID:307601000|UMLS:C0033822|ICD10:C78.6|ICDO:8480/6|DOID:3559|MedDRA:10037138|GARD:0002448|NCIT:C3345|Orphanet:26790 Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. DOID:3559|MESH:D011553|ORPHA:26790|NCIT:C3345|MEDDRA:10037138|UMLS:C0033822|SNOMEDCT:307601000 http://purl.obolibrary.org/obo/MONDO_0017048 pseudomyxoma peritonei (morphologic abnormality)|well differentiated peritoneal mucinous adenocarcinoma|peritoneal cavity pseudomyxoma peritonei|Myxoma peritonei|syndrome of pseudomyxoma peritonei|pseudomyxoma peritonei|Adenomucinosis|PMP|mucinous ascites|gelatinous ascites gard_rare|ordo_disease MONDO:0032663 developmental and epileptic encephalopathy, 70 biolink:Disease mondo OMIM:618298 http://identifiers.org/omim/618298 http://purl.obolibrary.org/obo/MONDO_0032663 DEE70|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70; EIEE70|epileptic encephalopathy, early infantile, 70 MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome biolink:Disease mondo UMLS:CN202399|Orphanet:2680 10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. UMLS:CN202399|ORPHA:2680 http://purl.obolibrary.org/obo/MONDO_0017049 Boylan-dew syndrome ordo_malformation_syndrome MONDO:0032664 ciliary dyskinesia, primary, 40 biolink:Disease mondo OMIM:618300 http://identifiers.org/omim/618300 http://purl.obolibrary.org/obo/MONDO_0032664 CILIARY DYSKINESIA, PRIMARY, 40; CILD40|Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus MONDO:0017042 thanatophoric dysplasia biolink:Disease mondo ICD9:259.4|SCTID:29352008|NCIT:C85187|MESH:D013796|GARD:0000085|UMLS:C0039743|ICD10:Q77.1|DOID:13481|Orphanet:2655|MedDRA:10049808 Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. NCIT:C85187|SNOMEDCT:29352008|MEDDRA:10049808|ORPHA:2655|UMLS:C0039743|MESH:D013796|DOID:13481 http://purl.obolibrary.org/obo/MONDO_0017042 thanatophoric dwarfism|Td|dwarfism thanatophoric gard_rare|ordo_disease MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia biolink:Disease mondo OMIM:618292 http://identifiers.org/omim/618292 http://purl.obolibrary.org/obo/MONDO_0032661 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA; NEDIDHA MONDO:0017043 congenital mesoblastic nephroma biolink:Disease mondo ICDO:8960/1|GARD:0001493|NCIT:C6569|ICD10:D41.0|UMLS:C1332965|Orphanet:2665|MedDRA:10070665|DOID:4773 A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. NCIT:C6569|MEDDRA:10070665|ORPHA:2665|UMLS:C1332965|DOID:4773 http://purl.obolibrary.org/obo/MONDO_0017043 stromal nephroma, malignant|CMn|mesoblastic nephroma|congenital mesoblastic nephroma gard_rare|ordo_disease MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 biolink:Disease mondo OMIM:618295 http://identifiers.org/omim/618295 http://purl.obolibrary.org/obo/MONDO_0032662 Mental Retardation, Autosomal Recessive 67|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67; MRT67 MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome biolink:Disease mondo Orphanet:2666|UMLS:CN202376 This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. UMLS:CN202376|ORPHA:2666 http://purl.obolibrary.org/obo/MONDO_0017044 ordo_disease MONDO:0017045 neuroectodermal-endocrine syndrome biolink:Disease mondo UMLS:CN202391|GARD:0003959|SCTID:724090001|Orphanet:2676|ICD10:E31.8 Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar. SNOMEDCT:724090001|UMLS:CN202391|ORPHA:2676 http://purl.obolibrary.org/obo/MONDO_0017045 neuroectodermal endocrine syndrome|Oerter-Friedman-Anderson syndrome ordo_malformation_syndrome|gard_rare MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant biolink:Disease mondo OMIM:618291 http://identifiers.org/omim/618291 http://purl.obolibrary.org/obo/MONDO_0032660 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT; SMALED2B MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 biolink:Disease mondo OMIM:618369 http://identifiers.org/omim/618369 http://purl.obolibrary.org/obo/MONDO_0032706 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27; SCAR27 MONDO:0032707 turnpenny-fry syndrome biolink:Disease mondo OMIM:618371 http://identifiers.org/omim/618371 http://purl.obolibrary.org/obo/MONDO_0032707 TURNPENNY-FRY SYNDROME; TPFS|Neurocardioskeletal Syndrome MONDO:0007748 hypercalciuria, absorptive, 2 biolink:Disease mondo ICD9:V18.19|MESH:C562790|SCTID:237886009|OMIM:143870 MESH:C562790|http://identifiers.org/omim/143870|SNOMEDCT:237886009 http://purl.obolibrary.org/obo/MONDO_0007748 hypercalciuria, absorptive, type 2|HCA2|hypercalciuria, familial idiopathic|hypercalciuria, absorptive, 2; HCA2|hypercalciuria, absorptive, 2 MONDO:0007749 autosomal recessive infantile hypercalcemia biolink:Disease mondo UMLS:CN203398|UMLS:C4329374|Orphanet:300547|SCTID:34225008|ICD10:E83.5|NCIT:C129734 A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis. NCIT:C129734|ORPHA:300547|UMLS:CN203398|SNOMEDCT:34225008|UMLS:C4329374 http://purl.obolibrary.org/obo/MONDO_0007749 hypercalcemia, infantile|hypercalcemia, infantile, autosomal recessive|hypercalcemia, idiopathic, of infancy|autosomal recessive hypercalcemia, infantile|idiopathic infantile hypercalcemia|familial infantile hypercalcemia with suppressed intact parathyroid hormone prototype_pattern|ordo_disease MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination biolink:Disease mondo OMIM:618367 http://identifiers.org/omim/618367 http://purl.obolibrary.org/obo/MONDO_0032705 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION; NEDMEHM MONDO:0007746 orthostatic hypotensive disorder, Streeten type biolink:Disease mondo MESH:C564174|UMLS:C1840438|OMIM:143850 MESH:C564174|UMLS:C1840438|http://identifiers.org/omim/143850 http://purl.obolibrary.org/obo/MONDO_0007746 orthostatic hypotensive disorder|hyperbradykininism|orthostatic hypotensive disorder, Streeten type|OHDS MONDO:0032702 Coffin-Siris syndrome 8 biolink:Disease mondo OMIM:618362 http://identifiers.org/omim/618362 http://purl.obolibrary.org/obo/MONDO_0032702 COFFIN-SIRIS SYNDROME 8; CSS8 MONDO:0007747 isolated hyperchlorhidrosis biolink:Disease mondo ICD9:276.9|OMIM:143860|SCTID:709413001|Orphanet:542657 ORPHA:542657|SNOMEDCT:709413001|http://identifiers.org/omim/143860 http://purl.obolibrary.org/obo/MONDO_0007747 hyperchlorhidrosis, isolated ordo_disease MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis biolink:Disease mondo OMIM:618363 http://identifiers.org/omim/618363 http://purl.obolibrary.org/obo/MONDO_0032703 SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS; SSASKS MONDO:0007744 cholesterol-ester transfer protein deficiency biolink:Disease mondo ICD10:E78.4|Orphanet:79506|SCTID:15771000119109|UMLS:CN205999|OMIM:143470|UMLS:C3875011 SNOMEDCT:15771000119109|ORPHA:79506|UMLS:CN205999|UMLS:C3875011|http://identifiers.org/omim/143470 http://purl.obolibrary.org/obo/MONDO_0007744 HALP1|hyperalphalipoproteinemia 1|high density lipoprotein cholesterol level quantitative trait locus 10|hyperalphalipoproteinemia type 1|Hdlcq10|cholesterol ester transfer Protein deficiency|CETP deficiency|hyperalphalipoproteinemia 1; HALP1|familial hyperalphalipoproteinemia|CEPT deficiency ordo_disease MONDO:0007745 Gilbert syndrome biolink:Disease mondo DOID:2739|ICD10:E80.4|OMIM:143500|GARD:0006507|SCTID:27503000|MESH:D005878|EFO:0005556|NCIT:C84729|COHD:4099740 An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. DOID:2739|MESH:D005878|NCIT:C84729|SNOMEDCT:27503000|http://identifiers.org/omim/143500 http://purl.obolibrary.org/obo/MONDO_0007745 Gilbert's disease|Gilbert's syndrome|hyperbilirubinemia, Arias type|Gilbert syndrome|constitutional hyperbilirubinemia|hereditary nonhemolytic jaundice|hyperbilirubinemia 1|Gilbert-Meulengracht syndrome|Gilbert disease|hyperbilirubinemia, Gilbert type MONDO:0007742 5-hydroxytryptamine oxygenase regulator biolink:Disease mondo OMIM:143460 http://identifiers.org/omim/143460 http://purl.obolibrary.org/obo/MONDO_0007742 5-hydroxytryptamine oxygenase regulator|HTOR|5-HYDROXYTRYPTAMINE oxygenase regulator; HTOR MONDO:0020720 X-linked hypophosphatemic rickets (recessive or dominant) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020720 MONDO:0007743 attention deficit-hyperactivity disorder biolink:Disease mondo OMIM:143465|NCIT:C97160 A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type. NCIT:C97160|http://identifiers.org/omim/143465 http://purl.obolibrary.org/obo/MONDO_0007743 ADHD|attention deficit-hyperactivity disorder|attention deficit hyperactivity disorder|attention deficit/hyperactivity disorder|hyperactivity of childhood|attention deficit hyperactivity disorder|attention deficit-hyperactivity disorder; ADHD MONDO:0007740 Wagner disease biolink:Disease mondo MESH:C536075|OMIM:143200|UMLS:C1840452|ICD10:H35.5|Orphanet:898|SCTID:232064001|GARD:0007871|MedDRA:10063383 Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment. UMLS:C1840452|http://identifiers.org/omim/143200|MESH:C536075|MEDDRA:10063383|SNOMEDCT:232064001|UMLS:C0339540|ORPHA:898 http://purl.obolibrary.org/obo/MONDO_0007740 Wagner vitreoretinopathy|dominant hyaloideoretinal dystrophy of Wagner|ERVR|hyaloideoretinal Degeneration of Wagner|erosive vitreoretinopathy|Wagner disease (formerly)|Wagner syndrome type 1|Wagner vitreoretinal Degeneration|Wagner syndrome 1|VCAN-related vitreoretinopathy|WGN1|Wagner vitreoretinopathy; WGVRP|vitreoretinal degeneration, Wagner type|Wagner syndrome|WGVRP ordo_disease MONDO:0007741 congenital hydronephrosis biolink:Disease mondo SCTID:16297002|NCIT:C102979|ICD10:Q62.0|UMLS:C0266316|Orphanet:2190|ICD9:753.29|MedDRA:10050975|COHD:4037874 Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy. NCIT:C102979|MEDDRA:10050975|SNOMEDCT:16297002|ORPHA:2190|UMLS:C0266316 http://purl.obolibrary.org/obo/MONDO_0007741 ordo_morphological_anomaly NCBITaxon:44542 gambiae species complex organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_44542 MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies biolink:Disease mondo Orphanet:93581|UMLS:CN206652|ICD10:D58.8 UMLS:CN206652|ORPHA:93581 http://purl.obolibrary.org/obo/MONDO_0019739 D-HUS with anti-factor H antibodies|hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies|aHUS with anti-factor H antibodies|atypical HUS with anti-factor H antibodies ordo_etiological_subtype HP:0002014 Diarrhea biolink:PhenotypicFeature mondo SNOMEDCT_US:62315008|MSH:D003967|UMLS:C0011991|SNOMEDCT_US:267060006 Abnormally increased frequency of loose or watery bowel movements. http://purl.obolibrary.org/obo/HP_0002014 Watery stool|Diarrhoea|Diarrhea MONDO:0020717 autosomal dominant woolly hair biolink:Disease mondo OMIM:194300 http://identifiers.org/omim/194300 http://purl.obolibrary.org/obo/MONDO_0020717 ADWH MONDO:0019738 atypical hemolytic-uremic syndrome with H factor anomaly biolink:Disease mondo ICD10:D58.8|UMLS:CN206650|Orphanet:93579 UMLS:CN206650|ORPHA:93579 http://purl.obolibrary.org/obo/MONDO_0019738 D-HUS with H factor anomaly|hemolytic-uremic syndrome without diarrhea with H factor anomaly|atypical HUS with H factor anomaly|aHUS with H factor anomaly ordo_etiological_subtype HP:0002015 Dysphagia biolink:PhenotypicFeature mondo SNOMEDCT_US:40739000|SNOMEDCT_US:288939007|MEDDRA:10013950|UMLS:C0011168|MSH:D003680 Difficulty in swallowing. http://purl.obolibrary.org/obo/HP_0002015 Swallowing difficulty|Deglutition disorder|Swallowing difficulties|Difficulty swallowing|Poor swallowing hposlim_core MONDO:0020716 familial thyroid dyshormonogenesis 1 biolink:Disease mondo OMIM:274400 http://identifiers.org/omim/274400 http://purl.obolibrary.org/obo/MONDO_0020716 thyroid dyshormonogenesis 1; TDH1|thyroid hormonogenesis, genetic defect in, 1|thyroid dyshormonogenesis 1|hypothyroidism, congenital, due to dyshormonogenesis, 1|iodine accumulation, transport, or trapping defect|thyroid dyshormonogenesis type 1|TDH1 HP:0002012 Abnormality of the abdominal organs biolink:PhenotypicFeature mondo UMLS:C4021764 An abnormality of the viscera of the abdomen. http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs|Gastrointestinal tract defects MONDO:0020715 Multiple system atrophy 1, susceptibility to biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020715 MSA1|multiple system atrophy 1, susceptibility to; MSA1|Msa1, susceptibility to|multiple system atrophy 1, susceptibility to HP:0002013 Vomiting biolink:PhenotypicFeature mondo SNOMEDCT_US:422400008|MEDDRA:10047700|UMLS:C0042963|SNOMEDCT_US:300359004|SNOMEDCT_US:249497008|MSH:D014839 Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. http://purl.obolibrary.org/obo/HP_0002013 Throwing up|Emesis|Vomiting hposlim_core MONDO:0020714 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy biolink:Disease mondo OMIM:251900 http://identifiers.org/omim/251900 http://purl.obolibrary.org/obo/MONDO_0020714 MONDO:0019735 polymyalgia rheumatica biolink:Disease mondo MedDRA:10068240|NCIT:C85018|DOID:853|ICD10:M35.3|UMLS:C1527406|Orphanet:93569|SCTID:65323003|ICD9:725|MESH:D011111|UMLS:C0032533|GARD:0004704|COHD:255348 A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression. NCIT:C85018|MEDDRA:10068240|SNOMEDCT:65323003|ORPHA:93569|UMLS:C0032533|UMLS:C1527406|DOID:853|MESH:D011111 http://purl.obolibrary.org/obo/MONDO_0019735 rhizomelic pseudopolyarthritis|polymyalgia rheumatica ordo_disease MONDO:0020713 pulmonary venoocclusive disease 1 biolink:Disease mondo OMIM:265450 http://identifiers.org/omim/265450 http://purl.obolibrary.org/obo/MONDO_0020713 pulmonary venoocclusive disease 1, autosomal dominant|pulmonary venoocclusive disease 1, autosomal dominant; PVOD1|PVOD1 HP:0002019 Constipation biolink:PhenotypicFeature mondo SNOMEDCT_US:225595004|SNOMEDCT_US:14760008|MSH:D003248|UMLS:C0009806|UMLS:C0237326 Infrequent or difficult evacuation of feces. http://purl.obolibrary.org/obo/HP_0002019 Constipation|Costiveness|Dyschezia MONDO:0019734 juvenile polymyositis biolink:Disease mondo SCTID:738526005|EFO:1001988|UMLS:C3826988|NCIT:C114358|Orphanet:93568|ICD10:M33.2|GARD:0012742 An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. NCIT:C114358|UMLS:C3826988|ORPHA:93568|SNOMEDCT:738526005 http://purl.obolibrary.org/obo/MONDO_0019734 JPM|juvenile PM ordo_disease|gard_rare MONDO:0020712 46,XY sex reversal 1 biolink:Disease mondo OMIM:400044 http://identifiers.org/omim/400044 http://purl.obolibrary.org/obo/MONDO_0020712 46,XY sex reversal 1|46,XY sex reversal, SRY-related|46,XY sex reversal type 1|46,XY true hermaphroditism, SRY-related|46,XY sex reversal 1; SRXY1|SRXY1|46,XY gonadal dysgenesis, complete, SRY-related MONDO:0019737 thrombotic microangiopathy biolink:Disease mondo GARD:0012465|Orphanet:93573|SCTID:126729006|MedDRA:10043645|MESH:D057049|ICD10:M31.1|UMLS:C2717961|ICD9:446.6|NCIT:C62605|COHD:313800 The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. NCIT:C62605|SNOMEDCT:126729006|UMLS:C2717961|MESH:D057049|MEDDRA:10043645|ORPHA:93573 http://purl.obolibrary.org/obo/MONDO_0019737 ordo_group_of_disorders MONDO:0020711 selective peripheral resistance to thyroid hormone biolink:Disease mondo A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary. http://purl.obolibrary.org/obo/MONDO_0020711 PerRTH MONDO:0019736 dense deposit disease biolink:Disease mondo GARD:0008555|Orphanet:93571|UMLS:C0268743|ICD10:N04.6|NCIT:C123039|SCTID:722760002 Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. NCIT:C123039|ORPHA:93571|MESH:D015432|UMLS:C0268743|SNOMEDCT:722760002 http://purl.obolibrary.org/obo/MONDO_0019736 Mesangiocapillary glomerulonephritis type 2|glomerulonephritis membranoproliferative type 2|membranoproliferative glomerulonephritis type 2|MPGN 2|membranoproliferative glomerulonephritis type II ordo_histopathological_subtype HP:0002017 Nausea and vomiting biolink:PhenotypicFeature mondo UMLS:C0027498|SNOMEDCT_US:16932000 Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. http://purl.obolibrary.org/obo/HP_0002017 Nausea and vomiting MONDO:0020710 amnionitis biolink:Disease mondo NCIT:C50459|UMLS:C0002631|SCTID:10573002|ICD9:658.40 Inflammation of the amnion. UMLS:C0002631|SNOMEDCT:10573002|NCIT:C50459 http://purl.obolibrary.org/obo/MONDO_0020710 Infection of amniotic cavity|Amnionitides|amnionitis|Amniotic cavity infection|infection of amniotic cavity|amniotic cavity infection|Amnionitis|amnionitis MONDO:0019731 AApoAI amyloidosis biolink:Disease mondo Orphanet:93560|ICD10:E85.0|UMLS:CN206638 UMLS:CN206638|ORPHA:93560 http://purl.obolibrary.org/obo/MONDO_0019731 hereditary renal amyloidosis due to apolipoprotein A-I variant|familial amyloid nephropathy due to apolipoprotein A-I variant|familial renal amyloidosis due to apolipoprotein A-I variant|hereditary amyloid nephropathy due to apolipoprotein A-I variant|apolipoprotein A-I amyloidosis ordo_clinical_subtype HGNC:2799 GRHL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2799 MONDO:0019730 light chain deposition disease biolink:Disease mondo ICD10:D89.8|NCIT:C7727|SCTID:373604002|GARD:0006906|Orphanet:93558|UMLS:C0238239 Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. SNOMEDCT:373604002|ORPHA:93558|UMLS:C0238239|NCIT:C7727 http://purl.obolibrary.org/obo/MONDO_0019730 Bence Jones myeloma|Light chain disease|Light-chain deposition disease|Light chain gammopathy|LCDD gard_rare|ordo_clinical_subtype MONDO:0032710 developmental and epileptic encephalopathy, 72 biolink:Disease mondo OMIM:618374 http://identifiers.org/omim/618374 http://purl.obolibrary.org/obo/MONDO_0032710 DEE72|epileptic encephalopathy, early infantile, 72|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72; EIEE72 MONDO:0019733 AFib amyloidosis biolink:Disease mondo UMLS:CN206640|ICD10:E85.0|Orphanet:93562 UMLS:CN206640|ORPHA:93562 http://purl.obolibrary.org/obo/MONDO_0019733 familial amyloid nephropathy due to fibrinogen A alpha-chain variant|hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant|fibrinogen A alpha-chain amyloidosis|hereditary renal amyloidosis due to fibrinogen A alpha-chain variant ordo_clinical_subtype MONDO:0019732 ALys amyloidosis biolink:Disease mondo ICD10:E85.0|UMLS:CN206639|Orphanet:93561 UMLS:CN206639|ORPHA:93561 http://purl.obolibrary.org/obo/MONDO_0019732 familial renal amyloidosis due to lysozyme variant|hereditary amyloid nephropathy due to lysozyme variant|lysozyme amyloidosis|hereditary renal amyloidosis due to lysozyme variant|familial amyloid nephropathy due to lysozyme variant ordo_clinical_subtype HP:0002011 Morphological central nervous system abnormality biolink:PhenotypicFeature mondo UMLS:C4021765|SNOMEDCT_US:23853001|UMLS:C0007682|MSH:D002493 A structural abnormality of the central nervous system. http://purl.obolibrary.org/obo/HP_0002011 Morphological abnormality of the CNS|Central nervous system disease|Morphological abnormality of the central nervous system|Abnormality of the central nervous system MONDO:0020719 obsolete susceptibility to Hirschsprung disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020719 HSCR MONDO:0020718 congenital short bowel syndrome 1 biolink:Disease mondo UMLS:C0021847|OMIM:615237 http://identifiers.org/omim/615237|UMLS:C0021847 http://purl.obolibrary.org/obo/MONDO_0020718 CSBS|congenital short bowel syndrome; CSBS|congenital short bowel syndrome MONDO:0032717 amelogenesis imperfecta, type 3c biolink:Disease mondo OMIM:618386 http://identifiers.org/omim/618386 http://purl.obolibrary.org/obo/MONDO_0032717 AMELOGENESIS IMPERFECTA, TYPE IIIC; AI3C|Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive MONDO:0007759 hyperlipidemia, familial combined, LPL related biolink:Disease mondo OMIM:144250 http://identifiers.org/omim/144250 http://purl.obolibrary.org/obo/MONDO_0007759 FCHL|familial combined hyperlipidemia|hyperlipidemia, familial combined|hyperlipidemia, familial combined; FCHL MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 biolink:Disease mondo OMIM:618383 http://identifiers.org/omim/618383 http://purl.obolibrary.org/obo/MONDO_0032715 Mental Retardation, Autosomal Recessive 69|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69; MRT69 MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate biolink:Disease mondo OMIM:618384 http://identifiers.org/omim/618384 http://purl.obolibrary.org/obo/MONDO_0032716 LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE; ARLIAK MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome biolink:Disease mondo MESH:C564172|ICD10:Q82.8|Orphanet:1336|UMLS:C1840428|OMIM:144190 Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993. UMLS:C1840428|http://identifiers.org/omim/144190|ORPHA:1336|MESH:C564172 http://purl.obolibrary.org/obo/MONDO_0007757 hyperkeratosis-hyperpigmentation syndrome ordo_disease NCBITaxon:44537 Pyretophorus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_44537 MONDO:0007758 epidermolytic palmoplantar keratoderma biolink:Disease mondo Orphanet:2199|OMIM:144200|UMLS:C1721006|ICD10:Q82.8|GARD:0002826|NCIT:C84693|SCTID:399955009|DOID:0080223|ICD9:757.39 A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas. UMLS:C1721006|UMLS:C2931735|http://identifiers.org/omim/144200|NCIT:C84693|ORPHA:2199|DOID:0080223|SNOMEDCT:399955009|UMLS:C0343110 http://purl.obolibrary.org/obo/MONDO_0007758 epidermolytic palmoplantar keratoderma of Voerner|keratoderma, epidermolytic palmoplantar|hyperkeratosis palmoplantar localized epidermolytic|hyperkeratosis, localized epidermolytic|tylosis|palmoplantar keratoderma, Vorner type|palmoplantar keratoderma, epidermolytic; EPPK|epidermolytic palmoplantar keratoderma of Vörner|diffuse erythrodermic palmoplantar keratoderma, VC6rner type|keratosis of Greither|palmoplantar keratoderma, epidermolytic|epidermolytic palmoplantar keratoderma of VC6rner|diffuse erythrodermic palmoplantar keratoderma, Voerner type|diffuse erythrodermic palmoplantar keratoderma, Vörner type|keratosis palmaris Et plantaris Familiaris|EPPK|palmoplantar keratoderma, epidermolytic, with knuckle pads|Ppke ordo_disease|gard_rare MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome biolink:Disease mondo OMIM:618381 http://identifiers.org/omim/618381 http://purl.obolibrary.org/obo/MONDO_0032714 FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME; FHEIG MONDO:0007755 hyperimmunoglobulin G1(A1) syndrome biolink:Disease mondo MESH:C564173|OMIM:144120|UMLS:C1840429 UMLS:C1840429|http://identifiers.org/omim/144120|MESH:C564173 http://purl.obolibrary.org/obo/MONDO_0007755 Immunoglobulin heavy chain regulator|hyperimmunoglobulin G1(A1) syndrome MONDO:0007756 hyperkeratosis lenticularis perstans (disease) biolink:Disease mondo UMLS:C0263420|MESH:C538377|MedDRA:10071311|OMIM:144150|Orphanet:409|GARD:0002824|HP:0007570|SCTID:28488007 UMLS:C0263420|http://identifiers.org/omim/144150|MEDDRA:10071311|MESH:C538377|ORPHA:409|SNOMEDCT:28488007 http://purl.obolibrary.org/obo/MONDO_0007756 Flegel's disease|hyperkeratosis lenticularis perstans; HLP|hyperkeratosis lenticularis perstans|hyperkeratosis lenticularis perstans of Flegel|HLP|Flegel disease ordo_disease MONDO:0032712 combined oxidative phosphorylation deficiency 38 biolink:Disease mondo OMIM:618378 http://identifiers.org/omim/618378 http://purl.obolibrary.org/obo/MONDO_0032712 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38 MONDO:0007753 Frey syndrome biolink:Disease mondo GARD:0006467|MESH:D013547|SCTID:238758008|DOID:11599|EFO:1000940|OMIM:144100 An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) DOID:11599|SNOMEDCT:238758008|http://identifiers.org/omim/144100|MESH:D013547 http://purl.obolibrary.org/obo/MONDO_0007753 Frey syndrome|auriculotemporal nerve syndrome|hyperhidrosis gustatory|Baillarger syndrome|hyperhidrosis, gustatory|Frey's syndrome|gustatory hyperhidrosis|gustatory sweating|hyperhidrosis, gustatory; HYPRG|HYPRG NCBITaxon:44534 Cellia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_44534 MONDO:0007754 HYPRPP biolink:Disease mondo OMIM:144110|UMLS:C1274743|MESH:C563185 http://identifiers.org/omim/144110|UMLS:C1274743|MESH:C563185 http://purl.obolibrary.org/obo/MONDO_0007754 hyperhidrosis, primary palmar|hyperhidrosis palmaris ET plantaris|HYPRPP|hyperhidrosis palmaris ET plantaris; HYPRPP MONDO:0007751 hypercholesterolemia, autosomal dominant, type B biolink:Disease mondo OMIM:144010|SCTID:238081000 SNOMEDCT:238081000|http://identifiers.org/omim/144010 http://purl.obolibrary.org/obo/MONDO_0007751 hypercholesterolemia, familial, due to ligand-defective apolipoprotein B|hypercholesterolemia, autosomal dominant, type B|apolipoprotein B-100, familial ligand-defective|apolipoprotein B-100, familial defective MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation biolink:Disease mondo Orphanet:500166 ORPHA:500166 http://purl.obolibrary.org/obo/MONDO_0044700 ordo_etiological_subtype MONDO:0007752 hyperheparinemia biolink:Disease mondo MESH:C562723|ICD9:286.5|UMLS:C3203346|SCTID:79674009|OMIM:144050 http://identifiers.org/omim/144050|MESH:C562723|SNOMEDCT:79674009|UMLS:C3203346 http://purl.obolibrary.org/obo/MONDO_0007752 hyperheparinemia MONDO:0007750 hypercholesterolemia, familial, 1 biolink:Disease mondo OMIM:143890|SCTID:398036000 SNOMEDCT:398036000|http://identifiers.org/omim/143890 http://purl.obolibrary.org/obo/MONDO_0007750 FHCL1|low density lipoprotein cholesterol level quantitative trait locus 2|hypercholesterolemic xanthomatosis, familial|hyperlipoproteinemia, type 2|hypercholesterolemia, familial|hyper-low-density-lipoproteinemia|LDL receptor disorder|FHC|hyperlipoproteinemia, type 2A NCBITaxon:68525 delta/epsilon subdivisions organism taxon mondo PMID:11837318|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_68525 MONDO:0019728 heavy chain deposition disease biolink:Disease mondo UMLS:C1333947|UMLS:CN206635|ICD10:D89.8|NCIT:C7339|Orphanet:93556 NCIT:C7339|UMLS:CN206635|ORPHA:93556|UMLS:C1333947 http://purl.obolibrary.org/obo/MONDO_0019728 HCDD ordo_clinical_subtype MONDO:0020706 Heberden's node biolink:Disease mondo SCTID:239869009|NCIT:C34671 Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis. NCIT:C34671|SNOMEDCT:239869009 http://purl.obolibrary.org/obo/MONDO_0020706 tuberculum arthriticum|Heberden's node MONDO:0020705 neural tube defects, susceptibility to biolink:Disease mondo OMIM:182940 http://identifiers.org/omim/182940 http://purl.obolibrary.org/obo/MONDO_0020705 NTD|spina bifida|neural tube defects, SUSCEPTIBILITY to; NTD predisposition FOODON:00001002 food product biolink:OntologyClass mondo Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. http://purl.obolibrary.org/obo/FOODON_00001002 MONDO:0019727 mixed cryoglobulinemia type III biolink:Disease mondo UMLS:CN206634|ICD10:D89.1|Orphanet:93555 Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. UMLS:CN206634|ORPHA:93555 http://purl.obolibrary.org/obo/MONDO_0019727 MC type III ordo_etiological_subtype MONDO:0020704 inherited rippling muscle disease biolink:Disease mondo ICD10:G71.8|MedDRA:10069417|GARD:0009164|Orphanet:97238 Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. ORPHA:97238 http://purl.obolibrary.org/obo/MONDO_0020704 RMD|rippling muscle disease|rippling muscle disease; RMD ordo_disease|gard_rare HP:0002023 Anal atresia biolink:PhenotypicFeature mondo Fyler:4443|SNOMEDCT_US:204731006|MSH:D001006|MEDDRA:10002120|UMLS:C0003466|SNOMEDCT_US:204712000|Fyler:4402 Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. http://purl.obolibrary.org/obo/HP_0002023 Imperforate anus|Absent anus hposlim_core HP:0002024 Malabsorption biolink:PhenotypicFeature mondo UMLS:C3714745 Impaired ability to absorb one or more nutrients from the intestine. http://purl.obolibrary.org/obo/HP_0002024 Intestinal malabsorption|Malabsorption MONDO:0019729 light and heavy chain deposition disease biolink:Disease mondo UMLS:CN206636|ICD10:D89.8|Orphanet:93557 UMLS:CN206636|ORPHA:93557 http://purl.obolibrary.org/obo/MONDO_0019729 LHCDD ordo_clinical_subtype MONDO:0020703 erythroid neoplasm biolink:Disease mondo NCIT:C7064 NCIT:C7064 http://purl.obolibrary.org/obo/MONDO_0020703 erythroid tumor|erythroid neoplasm MONDO:0019724 secondary glomerular disease biolink:Disease mondo Orphanet:93551|UMLS:CN206631 Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established UMLS:CN206631|ORPHA:93551 http://purl.obolibrary.org/obo/MONDO_0019724 ordo_group_of_disorders CHEBI:33521 metal atom biolink:ChemicalSubstance mondo An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity. http://purl.obolibrary.org/obo/CHEBI_33521 elemental metals|metal element|metal elements|elemental metal|metals MONDO:0020702 autosomal dominant epidermolytic ichthyosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020702 MONDO:0019723 disease of glomerular basement membrane biolink:Disease mondo Orphanet:93550|UMLS:CN206630 UMLS:CN206630|ORPHA:93550 http://purl.obolibrary.org/obo/MONDO_0019723 basement membrane disease ordo_group_of_disorders MONDO:0020701 brachydactyly type A1A biolink:Disease mondo OMIM:112500 http://identifiers.org/omim/112500 http://purl.obolibrary.org/obo/MONDO_0020701 BRACHYDACTYLY, type A1; BDA1|Farabee-type Brachydactyly|BDA1 HP:0002027 Abdominal pain biolink:PhenotypicFeature mondo UMLS:C0000737|MEDDRA:10000081|SNOMEDCT_US:21522001|MSH:D015746 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. http://purl.obolibrary.org/obo/HP_0002027 Upset stomach|Gastrointestinal pain|Abdominal discomfort|Pain in stomach|Stomach pain|Abdominal pain|Gastro pain hposlim_core MONDO:0020700 obsolete microcephaly, short stature, and impaired glucose metabolism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020700 MONDO:0019726 type II mixed cryoglobulinemia biolink:Disease mondo ICD10:D89.1|UMLS:CN206633|Orphanet:93554 Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). UMLS:CN206633|ORPHA:93554 http://purl.obolibrary.org/obo/MONDO_0019726 MC type II ordo_etiological_subtype MONDO:0019725 pediatric systemic lupus erythematosus biolink:Disease mondo Orphanet:93552|ICD10:M32.9|ICD10:M32.8|ICD10:M32.1|ICD10:M32.0 ORPHA:93552 http://purl.obolibrary.org/obo/MONDO_0019725 SLE, pediatric onset ordo_disease MONDO:0019720 non-syndromic renal or urinary tract malformation biolink:Disease mondo Orphanet:93546 A renal or urinary tract malformation that is not part of a larger syndrome. ORPHA:93546 http://purl.obolibrary.org/obo/MONDO_0019720 nonsyndromic congenital anomaly of kidney and urinary tract|nonsyndromic renal or urinary tract malformation|isolated renal or urinary tract malformation|isolated congenital anomaly of kidney and urinary tract ordo_group_of_disorders MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type biolink:Disease mondo OMIM:618392 http://identifiers.org/omim/618392 http://purl.obolibrary.org/obo/MONDO_0032721 Sed With Elevated Blood Lysosomal Enzymes|SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE; SEDKF MONDO:0019722 glomerular disease biolink:Disease mondo GTR:AN0966176|NCIT:C120887|COHD:4059452|SCTID:197679002|Orphanet:93548|UMLS:CN580795|ICD10:N00.N08 A disease involving the renal glomerulus. NCIT:C120887|SNOMEDCT:197679002|ORPHA:93548|UMLS:CN580795 http://purl.obolibrary.org/obo/MONDO_0019722 renal glomerulus disease or disorder|disorder of renal glomerulus|disease of renal glomerulus|glomerulopathies|disease or disorder of renal glomerulus|disorder of renal glomerulus|glomerulopathy|renal glomerulus disease ordo_group_of_disorders MONDO:0019721 syndromic renal or urinary tract malformation biolink:Disease mondo UMLS:CN227683|Orphanet:93547 A renal or urinary tract malformation that is part of a larger syndrome. ORPHA:93547|UMLS:CN227683 http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation|syndromic congenital anomaly of kidney and urinary tract|syndrome associated with congenital anomaly of kidney and urinary tract|syndrome associated with congenital anomaly of kidney and urinary tract ordo_group_of_disorders MONDO:0020709 Majocchi granuloma biolink:Disease mondo An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. http://purl.obolibrary.org/obo/MONDO_0020709 Majocchi's granuloma MONDO:0020708 brachial amyotrophic diplegia biolink:Disease mondo NCIT:C133085 A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction. NCIT:C133085 http://purl.obolibrary.org/obo/MONDO_0020708 brachial amyotrophic diplegia|flail arm syndrome|man-in-barrel syndrome|BAD|FAS MONDO:0020707 central hearing loss biolink:Disease mondo NCIT:C34662 Hearing loss resulting from disorders of the central nervous system auditory pathways. NCIT:C34662 http://purl.obolibrary.org/obo/MONDO_0020707 central hearing loss MONDO:0007728 acne inversa, familial, 1 biolink:Disease mondo OMIM:142690|UMLS:CN028850 Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene. http://identifiers.org/omim/142690|UMLS:CN028850 http://purl.obolibrary.org/obo/MONDO_0007728 ACNINV1|acne inversa, familial|hidradenitis suppurativa, familial|acne inversa, familial, 1|NCSTN familial acne inversa|acne inversa, familial, 1; ACNINV1|acne inversa, familial, type 1|familial acne inversa caused by mutation in NCSTN MONDO:0032728 charcot-marie-tooth disease, axonal, type 2ee biolink:Disease mondo OMIM:618400 http://identifiers.org/omim/618400 http://purl.obolibrary.org/obo/MONDO_0032728 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE; CMT2EE|Charcot-Marie-Tooth Neuropathy, Type 2Ee MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 biolink:Disease mondo OMIM:618402 http://identifiers.org/omim/618402 http://purl.obolibrary.org/obo/MONDO_0032729 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; MRT70|Mental Retardation, Autosomal Recessive 70 MONDO:0007729 DDH1 biolink:Disease mondo OMIM:142700 http://identifiers.org/omim/142700 http://purl.obolibrary.org/obo/MONDO_0007729 hip dysplasia, congenital|DDH1|hip dysplasia, developmental|developmental dysplasia of the hip 1; DDH1|developmental dysplasia of the hip 1|acetabular dysplasia prototype_pattern MONDO:0007726 hip dysplasia, Beukes type biolink:Disease mondo GARD:0002690|OMIM:142669|Orphanet:2114|ICD10:Q65.8|MESH:C564185|SCTID:721148005 Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. http://identifiers.org/omim/142669|SNOMEDCT:721148005|MESH:C564185|ORPHA:2114 http://purl.obolibrary.org/obo/MONDO_0007726 BHD|osteoarthropathy, premature degenerative, of hip|Beukes hip dysplasia|BFHD|hip dysplasia, Beukes type|premature degenerative osteoarthropathy of the hip|Beukes hip dysplasia; BHD|Cilliers-Beighton syndrome|hip dysplasia Beukes type|Beukes familial hip dysplasia ordo_disease MONDO:0032726 combined oxidative phosphorylation deficiency 39 biolink:Disease mondo OMIM:618397 http://identifiers.org/omim/618397 http://purl.obolibrary.org/obo/MONDO_0032726 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39 MONDO:0007727 autosomal dominant familial periodic fever biolink:Disease mondo MESH:C536657|Orphanet:32960|OMIM:142680|SCTID:403833009|GARD:0008457|DOID:0090018|NCIT:C119051|ICD10:E85.0 Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis. http://identifiers.org/omim/142680|ORPHA:32960|MESH:C536657|DOID:0090018|NCIT:C119051|SNOMEDCT:403833009 http://purl.obolibrary.org/obo/MONDO_0007727 Hibernian fever, familial|TNF receptor-associated periodic fever syndrome|periodic FEVER, familial, autosomal dominant|tumor necrosis factor receptor 1 associated periodic syndrome|TNF receptor-associated periodic syndrome|TNF receptor 1-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|TRAPS|TRAPS syndrome|tumor necrosis factor receptor 1-associated periodic syndrome|familial Hibernian fever|FHF|FPF ordo_disease MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome biolink:Disease mondo OMIM:142625|ICD10:Q87.8|GARD:0005566|Orphanet:2156|MESH:C536705|UMLS:C0795976 UMLS:C0795976|MESH:C536705|ORPHA:2156|http://identifiers.org/omim/142625 http://purl.obolibrary.org/obo/MONDO_0007724 hirsutism skeletal dysplasia mental retardation syndrome|Wiedemann-Oldigs-Oppermann syndrome|hirsutism, skeletal dysplasia, and intellectual disability|Wiedemann Oldigs Oppermann syndrome|hirsutism, skeletal dysplasia, and mental retardation|hirsutism skeletal dysplasia intellectual disability syndrome ordo_malformation_syndrome MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 biolink:Disease mondo OMIM:618395 http://identifiers.org/omim/618395 http://purl.obolibrary.org/obo/MONDO_0032724 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3; SEMDJL3 MONDO:0007725 hereditary progressive mucinous histiocytosis biolink:Disease mondo UMLS:C1840586|Orphanet:158025|OMIM:142630|MESH:C564186|ICD10:D76.3 Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis. http://identifiers.org/omim/142630|MESH:C564186|ORPHA:158025|UMLS:C1840586 http://purl.obolibrary.org/obo/MONDO_0007725 histiocytosis, progressive mucinous ordo_disease MONDO:0032725 developmental and epileptic encephalopathy, 74 biolink:Disease mondo OMIM:618396 http://identifiers.org/omim/618396 http://purl.obolibrary.org/obo/MONDO_0032725 DEE74|epileptic encephalopathy, early infantile, 74|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74; EIEE74 MONDO:0007722 heterochromia iridis (disease) biolink:Disease mondo MESH:C538115|HP:0001100|OMIM:142500 MESH:C538115|http://identifiers.org/omim/142500 http://purl.obolibrary.org/obo/MONDO_0007722 heterochromia iridis MONDO:0032723 immunodeficiency 60 biolink:Disease mondo OMIM:618394 http://identifiers.org/omim/618394 http://purl.obolibrary.org/obo/MONDO_0032723 IMMUNODEFICIENCY 60; IMD60|Immunodeficiency and Autoimmunity, Bach2-Related MONDO:0007723 Hirschsprung disease, susceptibility to, 1 biolink:Disease mondo UMLS:C2931876|OMIM:142623 Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene. UMLS:C2931876|http://identifiers.org/omim/142623 http://purl.obolibrary.org/obo/MONDO_0007723 megacolon, aganglionic|susceptibility to Hirschsprung disease 1|HSCR1|aganglionic megacolon|RET Hirschsprung disease|Hirschsprung disease, susceptibility to, 1|Hirschsprung disease, protection against|Hirschsprung disease caused by mutation in RET|Hirschsprung disease, susceptibility to, type 1|Hirschsprung disease|Hirschsprung disease, susceptibility to, 1; HSCR1 predisposition MONDO:0007720 hernia, double inguinal biolink:Disease mondo MESH:C563164|UMLS:C0860251|OMIM:142350 MESH:C563164|http://identifiers.org/omim/142350|UMLS:C0860251 http://purl.obolibrary.org/obo/MONDO_0007720 hernia, double inguinal MONDO:0007721 hiatus hernia (disease) biolink:Disease mondo ICD10:K44|MESH:D006551|NCIT:C98945|HP:0002036|DOID:12642|SCTID:84089009|OMIM:142400 Herniation of the upper part of the stomach through the diaphragm. MESH:D006551|DOID:12642|NCIT:C98945|http://identifiers.org/omim/142400|SNOMEDCT:84089009 http://purl.obolibrary.org/obo/MONDO_0007721 diaphragmatic - hiatus -hernia|hiatal hernia|hiatus hernia|hernia, hiatus MONDO:0044710 lip and oral cavity squamous cell carcinoma biolink:Disease mondo NCIT:C42690|Orphanet:502369|UMLS:C0280297 A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes. ORPHA:502369|UMLS:C0280297|NCIT:C42690 http://purl.obolibrary.org/obo/MONDO_0044710 lip/oral cavity squam. cell car.|lip and oral cavity squamous cell cancer|squamous cell carcinoma of oral cavity and lip|lip and oral cavity squamous cell carcinoma ordo_group_of_disorders MONDO:0019709 cleidocranial dysplasia and isolated cranial ossification defect biolink:Disease mondo Orphanet:93451 ORPHA:93451 http://purl.obolibrary.org/obo/MONDO_0019709 ordo_group_of_disorders MONDO:0019717 chromosomal disease with overgrowth biolink:Disease mondo UMLS:CN206622|Orphanet:93461 UMLS:CN206622|ORPHA:93461 http://purl.obolibrary.org/obo/MONDO_0019717 ordo_group_of_disorders MONDO:0019716 overgrowth syndrome biolink:Disease mondo UMLS:CN206621|UMLS:C2986703|Orphanet:93460|ICD10:Q87.3|NCIT:C94828 A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. NCIT:C94828|UMLS:CN206621|UMLS:C2986703|ORPHA:93460 http://purl.obolibrary.org/obo/MONDO_0019716 ordo_group_of_disorders MONDO:0044705 paranasal sinus squamous cell carcinoma biolink:Disease mondo NCIT:C8193|UMLS:C0280334|Orphanet:500464 A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. NCIT:C8193|UMLS:C0280334|ORPHA:500464 http://purl.obolibrary.org/obo/MONDO_0044705 squamous cell carcinoma of the paranasal sinus|squamous cell carcinoma of the nasal cavity and sinuses|squamous cell carcinoma of paranasal sinus|paranasal sinus epidermoid carcinoma|epidermoid carcinoma of the paranasal sinus|epidermoid carcinoma of paranasal sinus|paranasal sinus squamous cell carcinoma|squamous cell carcinoma of the nasal cavity and paranasal sinuses ordo_disease MONDO:0019719 congenital anomaly of kidney and urinary tract biolink:Disease mondo Orphanet:93545|UMLS:C1968949|MESH:C566906|DOID:0080205|OMIMPS:610805 A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. DOID:0080205|MESH:C566906|UMLS:C1968949|ORPHA:93545 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomalies of the kidney and urinary tract|CAKUT|renal or urinary tract malformation|congenital anomalies of kidney and urinary tract ordo_group_of_disorders|clingen GO:0140241 translation at synapse biolink:OntologyClass mondo Translation that occurs at the synapse. http://purl.obolibrary.org/obo/GO_0140241 MONDO:0019718 lethal chondrodysplasia biolink:Disease mondo Orphanet:93465 ORPHA:93465 http://purl.obolibrary.org/obo/MONDO_0019718 ordo_group_of_disorders MONDO:0019713 non-syndromic limb reduction defect biolink:Disease mondo ICD10:Q73.8|ICD10:Q72.9|ICD10:Q71.9|ICD10:Q72.8|ICD10:Q71.8|ICD10:Q72.7|ICD10:Q72.6|ICD10:Q72.2|ICD10:Q71.2|ICD10:Q71.6|ICD10:Q72.5|ICD10:Q72.1|ICD10:Q71.1|ICD10:Q71.5|ICD10:Q72.4|ICD10:Q71.4|ICD10:Q72.3|ICD10:Q71.3|ICD10:Q73.1|ICD10:Q73.0|ICD10:Q72.0|ICD10:Q71.0|Orphanet:93457 ORPHA:93457 http://purl.obolibrary.org/obo/MONDO_0019713 nonsyndromic limb reduction defect|non-syndromic limb hypoplasia|isolated limb reduction defect ordo_group_of_disorders MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome biolink:Disease mondo OMIM:301018|Orphanet:500188 ORPHA:500188|http://identifiers.org/omim/301018 http://purl.obolibrary.org/obo/MONDO_0044702 DFNX7|deafness, X-linked 7|deafness, X-linked 7; DFNX7 ordo_malformation_syndrome GO:0140243 regulation of translation at synapse biolink:OntologyClass mondo Any process that regulates translation occurring at the synapse. http://purl.obolibrary.org/obo/GO_0140243 MONDO:0019712 patellar dysostosis biolink:Disease mondo Orphanet:93455 ORPHA:93455 http://purl.obolibrary.org/obo/MONDO_0019712 ordo_group_of_disorders MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder biolink:Disease mondo Orphanet:500180|OMIM:617672|UMLS:CN469330 ORPHA:500180|http://identifiers.org/omim/617672|UMLS:CN469330 http://purl.obolibrary.org/obo/MONDO_0044701 CONDBA|neurodegeneration, childhood-onset, with brain atrophy; CONDBA|UBTF-related disorder|neurodegeneration, childhood-onset, with brain atrophy ordo_disease GO:0140242 translation at postsynapse biolink:OntologyClass mondo Translation that occurs at the postsynapse. http://purl.obolibrary.org/obo/GO_0140242 MONDO:0019715 syndrome with synostosis or other joint formation defect biolink:Disease mondo UMLS:CN206620|Orphanet:93459 UMLS:CN206620|ORPHA:93459 http://purl.obolibrary.org/obo/MONDO_0019715 ordo_group_of_disorders MONDO:0044704 oropharynx squamous cell carcinoma biolink:Disease mondo NCIT:C8181|ONCOTREE:OPHSC|Orphanet:500478 A squamous cell carcinoma that involves the oropharynx. NCIT:C8181|ORPHA:500478 http://purl.obolibrary.org/obo/MONDO_0044704 squamous cell carcinoma of the oropharynx|squamous cell carcinoma of oropharynx|oropharyngeal epidermoid carcinoma|oropharyngeal squamous cell carcinoma|oropharyngeal throat squamous cell cancer|epidermoid carcinoma of oropharynx|epidermoid carcinoma of the oropharynx ordo_disease GO:0140245 regulation of translation at postsynapse biolink:OntologyClass mondo Any process that regulates translation occurring at the postsynapse. http://purl.obolibrary.org/obo/GO_0140245 FOODON:00001015 plant food product biolink:OntologyClass mondo This class includes food products which are derived from or produced by a plant. http://purl.obolibrary.org/obo/FOODON_00001015 MONDO:0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy biolink:Disease mondo Orphanet:93458 ORPHA:93458 http://purl.obolibrary.org/obo/MONDO_0019714 isolated polydactyly, syndactyly and/or hyperphalangy|nonsyndromic polydactyly, syndactyly and/or hyperphalangy ordo_group_of_disorders GO:0140244 regulation of translation at presynapse biolink:OntologyClass mondo Any process that regulates translation occurring at the presynapse. http://purl.obolibrary.org/obo/GO_0140244 MONDO:0032732 deafness, autosomal recessive 113 biolink:Disease mondo OMIM:618410 http://identifiers.org/omim/618410 http://purl.obolibrary.org/obo/MONDO_0032732 DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113 MONDO:0019711 dysostosis with predominant vertebral and costal involvement biolink:Disease mondo Orphanet:93454 ORPHA:93454 http://purl.obolibrary.org/obo/MONDO_0019711 ordo_group_of_disorders MONDO:0032730 leukodystrophy, hypomyelinating, 18 biolink:Disease mondo OMIM:618404 http://identifiers.org/omim/618404 http://purl.obolibrary.org/obo/MONDO_0032730 LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18 MONDO:0019710 dysostosis with predominant craniofacial involvement biolink:Disease mondo Orphanet:93453 ORPHA:93453 http://purl.obolibrary.org/obo/MONDO_0019710 ordo_group_of_disorders MONDO:0044709 cochleovestibular dysplasia biolink:Disease mondo Orphanet:502305 ORPHA:502305 http://purl.obolibrary.org/obo/MONDO_0044709 ordo_morphological_anomaly MONDO:0007719 diaphragmatic hernia, congenital 1 biolink:Disease mondo OMIM:142340 http://identifiers.org/omim/142340 http://purl.obolibrary.org/obo/MONDO_0007719 hernia, congenital diaphragmatic|diaphragmatic hernia 1|hemidiaphragm, agenesis of|diaphragm, complete agenesis of|diaphragm, unilateral agenesis of|DIH1|diaphragmatic hernia, congenital|diaphragmatic defect, congenital prototype_pattern MONDO:0032739 spermatogenic failure 36 biolink:Disease mondo OMIM:618420 http://identifiers.org/omim/618420 http://purl.obolibrary.org/obo/MONDO_0032739 SPERMATOGENIC FAILURE 36; SPGF36 MONDO:0007739 Huntington disease biolink:Disease mondo UMLS:C0020179|GARD:0006677|Orphanet:399|MedDRA:10070668|KEGG:05016|DOID:12858|ICD9:333.4|NCIT:C82342|ICD10:G10|COHD:374341|OMIM:143100|SCTID:58756001 Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. ORPHA:399|MESH:D006816|DOID:12858|SNOMEDCT:58756001|UMLS:C0020179|http://identifiers.org/omim/143100|NCIT:C82342|MEDDRA:10070668 http://purl.obolibrary.org/obo/MONDO_0007739 Huntington's disease|Huntington's chorea|Huntington disease|HD|Huntington disease; HD|Huntington chorea ordo_disease MONDO:0007737 humeroradial synostosis (disease) biolink:Disease mondo ICD9:755.59|DOID:0060467|ICD10:Q74.0|Orphanet:3265|OMIM:143050|GARD:0002748|SCTID:205329008|HP:0003041 Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present. DOID:0060467|UMLS:C0431800|http://identifiers.org/omim/143050|ORPHA:3265|SNOMEDCT:205329008 http://purl.obolibrary.org/obo/MONDO_0007737 humeroradial synostosis|humero-radial fusion|humero-radial synostosis ordo_morphological_anomaly MONDO:0032737 spastic paraplegia 80, autosomal dominant biolink:Disease mondo OMIM:618418 http://identifiers.org/omim/618418 http://purl.obolibrary.org/obo/MONDO_0032737 SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT; SPG80 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations biolink:Disease mondo GARD:0002533|OMIM:143095|Orphanet:263463|SCTID:702400006|ICD10:Q74.8|DOID:0050813|MESH:C537283|ICD9:756.9 CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. DOID:0050813|SNOMEDCT:702400006|ORPHA:263463|http://identifiers.org/omim/143095|MESH:C537283 http://purl.obolibrary.org/obo/MONDO_0007738 chondrodysplasia with multiple dislocations|spondyloepiphyseal dysplasia, Omani type|SDCD, CHST3 type|spondyloepiphyseal dysplasia|humero-spinal dysostosis with congenital heart disease|Kozlowski Celermajer tink syndrome|chondrodysplasia with congenital joint dislocations, CHST3 type|spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type|spondyloepiphyseal dysplasia with congenital joint dislocations|CHST3-related skeletal dysplasia|spondyloepiphyseal dysplasia with congenital JOINT dislocations; SEDCJD|Gollop Coates syndrome|SEDCJD|Omani type|Humerospinal dysostosis|bifurcation of distal humerus with oligoectro-syndactyly gard_rare|ordo_disease MONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy biolink:Disease mondo OMIM:618419 http://identifiers.org/omim/618419 http://purl.obolibrary.org/obo/MONDO_0032738 GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY; GDRM MONDO:0007735 congenital Horner syndrome (disease) biolink:Disease mondo ICD10:G90.2|MESH:C564178|HP:0006837|UMLS:C1840475|Orphanet:91413|OMIM:143000 Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. MESH:C564178|UMLS:C1840475|http://identifiers.org/omim/143000|ORPHA:91413 http://purl.obolibrary.org/obo/MONDO_0007735 HORNER syndrome, congenital|congenital Horner syndrome|congenital Claude-Bernard-Horner syndrome ordo_disease MONDO:0032735 cataract 48 biolink:Disease mondo OMIM:618415 http://identifiers.org/omim/618415 http://purl.obolibrary.org/obo/MONDO_0032735 CATARACT 48; CTRCT48 MONDO:0007736 HPA 1 Recognition polymorphism, beta-globin-related biolink:Disease mondo OMIM:143020 http://identifiers.org/omim/143020 http://purl.obolibrary.org/obo/MONDO_0007736 restriction fragment length polymorphism, sickle cell Anemia-related|HPA1|HPA I RECOGNITION polymorphism, BETA-globin-RELATED; HPA1|HPA I RECOGNITION polymorphism, BETA-globin-related MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression biolink:Disease mondo OMIM:618416 http://identifiers.org/omim/618416 http://purl.obolibrary.org/obo/MONDO_0032736 METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION; MECREN MONDO:0007733 holoprosencephaly 3 biolink:Disease mondo OMIM:142945|DOID:0110875|MESH:C564181|UMLS:C1840529 Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene. MESH:C564181|DOID:0110875|UMLS:C1840529|http://identifiers.org/omim/142945 http://purl.obolibrary.org/obo/MONDO_0007733 SHH holoprosencephaly|Shh holoprosencephaly|HPE3|holoprosencephaly 3|holoprosencephaly caused by mutation in Shh|holoprosencephaly caused by mutation in SHH|HLP3|holoprosencephaly 3; HPE3|Hlp3|holoprosencephaly type 3 MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine biolink:Disease mondo OMIM:618412 http://identifiers.org/omim/618412 http://purl.obolibrary.org/obo/MONDO_0032733 GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE; GDPAG|Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia UBERON:0016570 lamina of gray matter of spinal cord biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0016570 rexed lamina MONDO:0007734 holoprosencephaly 4 biolink:Disease mondo UMLS:C1840528|OMIM:142946|MESH:C564180|DOID:0110880|NCIT:C75475 A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. NCIT:C75475|MESH:C564180|DOID:0110880|UMLS:C1840528|http://identifiers.org/omim/142946 http://purl.obolibrary.org/obo/MONDO_0007734 TGIF1 holoprosencephaly|holoprosencephaly 4|holoprosencephaly type 4|holoprosencephaly 4; HPE4|holoprosencephaly caused by mutation in TGIF1|HPE4 MONDO:0007731 obsolete HLA modifier biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007731 HLA modifier MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome biolink:Disease mondo Orphanet:504476 ORPHA:504476 http://purl.obolibrary.org/obo/MONDO_0044720 cerebellar ataxia with bilateral vestibulopathy syndrome|CANVAS|CABV syndrome ordo_disease GO:0140236 translation at presynapse biolink:OntologyClass mondo Translation that occurs at the presynapse. http://purl.obolibrary.org/obo/GO_0140236 MONDO:0007732 Holt-Oram syndrome biolink:Disease mondo NCIT:C125592|MedDRA:10050469|ICD9:759.89|MESH:C535326|GARD:0006666|UMLS:C0265264|OMIM:142900|DOID:0060468|ICD10:Q87.2|SCTID:19092004|Orphanet:392 Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. MESH:C535326|MEDDRA:10050469|DOID:0060468|SNOMEDCT:19092004|NCIT:C125592|UMLS:C0265264|ORPHA:392|http://identifiers.org/omim/142900 http://purl.obolibrary.org/obo/MONDO_0007732 Holt-Oram syndrome|HOLT-Oram syndrome; HOS|atriodigital dysplasia type 1|heart-hand syndrome|atrio-digital syndrome|heart-hand syndrome type 1|Cardiac-limb syndrome|HOS 1|heart-hand syndrome, type 1|atriodigital dysplasia|atriodigital dysplasia|ventriculo-radial syndrome|HOS|Hos1|atrio digital syndrome ordo_malformation_syndrome CHEBI:33504 alkali metal cation biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33504 alkali metal cations GO:0140238 presynaptic endocytosis biolink:OntologyClass mondo A vesicle-mediated transport process in which the presynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. http://purl.obolibrary.org/obo/GO_0140238 MONDO:0044721 severe combined immunodeficiency due to LAT deficiency biolink:Disease mondo UMLS:C4479588|OMIM:617514|Orphanet:504523 UMLS:C4479588|http://identifiers.org/omim/617514|ORPHA:504523 http://purl.obolibrary.org/obo/MONDO_0044721 SCID due to LAT deficiency|immunodeficiency 52|immunodeficiency 52; IMD52|IMD52 ordo_disease MONDO:0007730 histiocytic dermatoarthritis biolink:Disease mondo MESH:C564183|OMIM:142730|UMLS:C1840551 UMLS:C1840551|http://identifiers.org/omim/142730|MESH:C564183 http://purl.obolibrary.org/obo/MONDO_0007730 histiocytic dermatoarthritis GO:0140237 translation at presynapse, modulating chemical synaptic transmission biolink:OntologyClass mondo Translation that occurs at the presynapse, and that modulates chemical synaptic transmission. http://purl.obolibrary.org/obo/GO_0140237 GO:0140239 postsynaptic endocytosis biolink:OntologyClass mondo A vesicle-mediated transport process in which the postsynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. http://purl.obolibrary.org/obo/GO_0140239 MONDO:0019706 lysosomal storage disease with skeletal involvement biolink:Disease mondo ICD9:756.9|SCTID:254069004|UMLS:CN206618|Orphanet:93448 SNOMEDCT:254069004|UMLS:CN206618|ORPHA:93448 http://purl.obolibrary.org/obo/MONDO_0019706 dysostosis multiplex ordo_group_of_disorders MONDO:0044717 4q25 proximal deletion syndrome biolink:Disease mondo Orphanet:502437 ORPHA:502437 http://purl.obolibrary.org/obo/MONDO_0044717 proximal del(4)(q25)|proximal monosomy 4q25 ordo_malformation_syndrome MONDO:0019705 primary bone dysplasia with defective bone mineralization biolink:Disease mondo Orphanet:93447 ORPHA:93447 http://purl.obolibrary.org/obo/MONDO_0019705 primary osteodysplasia with defective bone mineralization|primary skeletal dysplasia with defective bone mineralization ordo_group_of_disorders MONDO:0044716 obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044716 MONDO:0019708 primary bone dysplasia with disorganized development of skeletal components biolink:Disease mondo Orphanet:93450 ORPHA:93450 http://purl.obolibrary.org/obo/MONDO_0019708 primary osteodysplasia with disorganized development of skeletal components|primary skeletal dysplasia with disorganized development of skeletal components ordo_group_of_disorders MONDO:0044719 erythema multiforme major biolink:Disease mondo NCIT:C3385|Orphanet:502499 A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area. NCIT:C3385|ORPHA:502499 http://purl.obolibrary.org/obo/MONDO_0044719 erythema multiforme majus|erythema exsudativum multiforme majus ordo_disease MONDO:0019707 primary osteolysis biolink:Disease mondo Orphanet:93449 ORPHA:93449 http://purl.obolibrary.org/obo/MONDO_0019707 ordo_group_of_disorders MONDO:0044718 alkaline ceramidase 3 deficiency biolink:Disease mondo UMLS:CN603947|Orphanet:502444|OMIM:617762 ORPHA:502444|UMLS:CN603947|http://identifiers.org/omim/617762 http://purl.obolibrary.org/obo/MONDO_0044718 leukodystrophy, progressive, early childhood-onset|ACER3-related early childhood-onset progressive leukodystrophy|leukodystrophy, progressive, early childhood-onset; PLDECO|PLDECO|leukodystrophy due to alkaline ceramidase 3 deficiency ordo_disease MONDO:0019702 neonatal osteosclerotic dysplasia biolink:Disease mondo Orphanet:93443|SCTID:389236000|UMLS:C1300205 SNOMEDCT:389236000|UMLS:C1300205|ORPHA:93443 http://purl.obolibrary.org/obo/MONDO_0019702 ordo_group_of_disorders UBERON:0004590 sphincter muscle biolink:AnatomicalEntity mondo A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. http://purl.obolibrary.org/obo/UBERON_0004590 sphincter|circular muscle MONDO:0019701 chondrodysplasia punctata biolink:Disease mondo Orphanet:93442|ICD9:756.59|MESH:D002806|DOID:2581|NCIT:C84632|GARD:0008542|ICD10:Q77.3|UMLS:C0008445|SCTID:360507004 A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. UMLS:C0008445|SNOMEDCT:360507004|DOID:2581|NCIT:C84632|ORPHA:93442|MESH:D002806 http://purl.obolibrary.org/obo/MONDO_0019701 CDP|chondrodysplasia calcificans congenita|chondrodysplasia punctata congenita|chondrodysplasia punctata (stippled epiphyses) Group ordo_group_of_disorders MONDO:0019704 primary bone dysplasia with decreased bone density biolink:Disease mondo Orphanet:93446 ORPHA:93446 http://purl.obolibrary.org/obo/MONDO_0019704 primary osteodysplasia with decreased bone density|primary skeletal dysplasia with decreased bone density ordo_group_of_disorders MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome biolink:Disease mondo Orphanet:502430 ORPHA:502430 http://purl.obolibrary.org/obo/MONDO_0044715 ordo_malformation_syndrome MONDO:0019703 primary bone dysplasia with increased bone density biolink:Disease mondo Orphanet:93444|UMLS:CN043667 UMLS:CN043667|ORPHA:93444 http://purl.obolibrary.org/obo/MONDO_0019703 sclerosing bone dysplasia|primary skeletal dysplasia with increased bone density|primary osteodysplasia with increased bone density ordo_group_of_disorders MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome biolink:Disease mondo Orphanet:502423|UMLS:CN484737|OMIM:617675 UMLS:CN484737|ORPHA:502423|http://identifiers.org/omim/617675 http://purl.obolibrary.org/obo/MONDO_0044714 myopathy, mitochondrial, and ataxia|MMYAT|mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome|myopathy, mitochondrial, and ataxia; MMYAT ordo_disease MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 biolink:Disease mondo OMIM:618426 http://identifiers.org/omim/618426 http://purl.obolibrary.org/obo/MONDO_0032742 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9; IIAE9 MONDO:0019700 primary bone dysplasia with multiple joint dislocations biolink:Disease mondo Orphanet:93441 ORPHA:93441 http://purl.obolibrary.org/obo/MONDO_0019700 primary skeletal dysplasia with multiple joint dislocations|primary osteodysplasia with multiple joint dislocations ordo_group_of_disorders MONDO:0032740 deafness, autosomal recessive 100 biolink:Disease mondo OMIM:618422 http://identifiers.org/omim/618422 http://purl.obolibrary.org/obo/MONDO_0032740 DEAFNESS, AUTOSOMAL RECESSIVE 100; DFNB100 MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements biolink:Disease mondo OMIM:618425 http://identifiers.org/omim/618425 http://purl.obolibrary.org/obo/MONDO_0032741 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS; NEDISHM MONDO:0005127 lepromatous leprosy biolink:Disease mondo ICD9:030.0|MESH:D015440|DOID:10887|ICD10:A30.5|SCTID:21560005|COHD:137207|EFO:0001057|UMLS:C0023348 A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. DOID:10887|MESH:D015440|UMLS:C0023348|SNOMEDCT:21560005 http://purl.obolibrary.org/obo/MONDO_0005127 type L leprosy|lepromatous leprosy [type L] MONDO:0005126 tuberculoid leprosy biolink:Disease mondo UMLS:C0023351|SCTID:70143003|DOID:1025|MESH:D015441|ICD10:A30.1|COHD:136898|EFO:0001056|ICD9:030.1 A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. MESH:D015441|SNOMEDCT:70143003|UMLS:C0023351|DOID:1025 http://purl.obolibrary.org/obo/MONDO_0005126 smooth leprosy|type T leprosy|tuberculoid leprosy [type T] MONDO:0005129 cataract (disease) biolink:Disease mondo NCIT:C26713|HP:0000518|ICD9:366.8|ICD9:366.9|ICD9:366|COHD:375545|EFO:0001059|ICD9:366.44|DOID:83|OMIMPS:116200|ICD10:H26|MESH:D002386|SCTID:193570009 Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) NCIT:C26713|DOID:83|MESH:D002386|SNOMEDCT:193570009 http://purl.obolibrary.org/obo/MONDO_0005129 opacity of the lens|cataract MONDO:0007788 hypertriglyceridemia, familial biolink:Disease mondo SCTID:34528009|OMIM:145750 An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome. http://identifiers.org/omim/145750|SNOMEDCT:34528009 http://purl.obolibrary.org/obo/MONDO_0007788 hypertriglyceridemia, familial|hereditary hypertriglyceridemia (disease) MONDO:0007789 hypertrophia musculorum vera biolink:Disease mondo OMIM:145800|MESH:C564152|UMLS:C1840361 http://identifiers.org/omim/145800|MESH:C564152|UMLS:C1840361 http://purl.obolibrary.org/obo/MONDO_0007789 hypertrophia musculorum vera MONDO:0005128 obsolete sensory system disease biolink:Disease mondo DOID:0050155|EFO:0001058 A disease involving the sensory system. DOID:0050155 http://purl.obolibrary.org/obo/MONDO_0005128 sensory system disease or disorder|disorder of sensory system|disease or disorder of sensory system|disease of sensory system|disorder of sensory system|sensory system disease|sensory disease MONDO:0020764 carcinoma, Brown-Pearce biolink:Disease mondo UMLS:C0007122|MESH:D002284|EFO:1001278 UMLS:C0007122|MESH:D002284 http://purl.obolibrary.org/obo/MONDO_0020764 Brown-Pearce Carcinoma|Epithelioma, Brown Pearce|Epithelioma, Brown-Pearce|Carcinoma, Brown-Pearce|Carcinoma, Brown Pearce|Brown-Pearce Epithelioma MONDO:0005123 obsolete Hibiscus chlorotic ringspot virus infection biolink:Disease mondo EFO:0000782 http://purl.obolibrary.org/obo/MONDO_0005123 MONDO:0007786 obsolete hypertrichosis lanuginosa congenita biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007786 MONDO:0007787 Ambras type hypertrichosis universalis congenita biolink:Disease mondo GARD:0008206|UMLS:C1840362|ICD10:Q84.2|Orphanet:1023|OMIM:145701|DOID:0111060 Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. http://identifiers.org/omim/145701|ORPHA:1023|DOID:0111060|MESH:C536605|UMLS:C1840362 http://purl.obolibrary.org/obo/MONDO_0007787 hypertrichosis universalis congenita, Ambras type; HTC1|hypertrichosis universalis congenita Ambras type|HTC 1|hypertrichosis universalis congenita, Ambras type|Ambras syndrome|hypertrichosis, congenital generalized|congenital generalized hypertrichosis, Ambras type|HTC1 ordo_clinical_subtype MONDO:0005122 Pectobacterium carotovorum infection biolink:Disease mondo EFO:0000781|Wikipedia:Pectobacterium_carotovorum A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems). http://purl.obolibrary.org/obo/MONDO_0005122 Pectobacterium disease or disorder|Pectobacterium infectious disease|Pectobacterium caused disease or disorder MONDO:0020763 Menke-Hennekam syndrome 1 biolink:Disease mondo OMIM:618332 http://identifiers.org/omim/618332 http://purl.obolibrary.org/obo/MONDO_0020763 Menke-Hennekam syndrome 1; MKHK1 MONDO:0005125 borderline leprosy biolink:Disease mondo SCTID:400154003|DOID:1023|ICD10:A30.3|EFO:0001055|UMLS:C3251797|MESH:D015439|UMLS:C0023346|ICD9:030.3 A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms. UMLS:C3251797|MESH:D015439|UMLS:C0023346|SNOMEDCT:400154003|DOID:1023 http://purl.obolibrary.org/obo/MONDO_0005125 borderline or dimorphous leprosy|Midborderline leprosy|borderline leprosy [group B] MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2 biolink:Disease mondo OMIM:618646 http://identifiers.org/omim/618646 http://purl.obolibrary.org/obo/MONDO_0020762 DMJDS2|spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia MONDO:0007784 selective pituitary resistance to thyroid hormone biolink:Disease mondo ICD10:E05.8|UMLS:C1840364|MESH:C564154|Orphanet:165994|OMIM:145650 Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema. ORPHA:165994|MESH:C564154|UMLS:C1840364|http://identifiers.org/omim/145650 http://purl.obolibrary.org/obo/MONDO_0007784 thyroid hormone resistance, selective pituitary; PRTH|thyroid hormone resistance, selective pituitary|PRTH|pituitary resistance to thyroid hormone|hyperthyroidism, familial, due to inappropriate thyrotropin secretion ordo_disease MONDO:0020761 Bowen disease of the skin biolink:Disease mondo MESH:D001913|GARD:0005948|ICDO:8081/2|NCIT:C62571|UMLS:C0006079 A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative. NCIT:C62571|UMLS:C0006079|MESH:D001913 http://purl.obolibrary.org/obo/MONDO_0020761 Disease, Bowen|Bowen disease of the skin|Disease, Bowen's|Bowen Disease|Bowens Disease|Bowen's disease of the skin|Bowen disease|intraepidermal squamous cell carcinoma, Bowen type gard_rare MONDO:0005124 leprosy biolink:Disease mondo MedDRA:10024229|ICD10:A30.3|ICD9:030.8|ICD10:A30.2|ICD9:030|ICD10:A30.1|ICD10:A30.0|Orphanet:548|NCIT:C84824|DOID:1024|EFO:0001054|GARD:0006886|COHD:432821|ICD10:A30.9|SCTID:81004002|ICD9:030.9|UMLS:C0023343|ICD10:A30.8|ICD10:A30|MESH:D007918|ICD10:A30.5|ICD10:A30.4 Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system. NCIT:C84824|MEDDRA:10024229|SNOMEDCT:81004002|ORPHA:548|UMLS:C0023343|DOID:1024|MESH:D007918 http://purl.obolibrary.org/obo/MONDO_0005124 Mycobacterium leprae infectious disease|Mycobacterium leprae caused disease or disorder|Hansen disease|Hansen's disease|Mycobacterium leprae disease or disorder ordo_disease MONDO:0007785 hyperthyroxinemia, dystransthyretinemic biolink:Disease mondo UMLS:C2750824|OMIM:145680|MESH:C567719|DOID:0080219 DOID:0080219|MESH:C567719|UMLS:C2750824|http://identifiers.org/omim/145680 http://purl.obolibrary.org/obo/MONDO_0007785 hyperthyroxinemia, dystransthyretinemic; DTTRH|dystransthyretinemic Euthyroidal hyperthyroxinemia|dystransthyretinemic hyperthyroxinemia|hyperthyroxinemia, dystransthyretinemic|Euthryroidal hyperthyroxinemia 2|hyperthyroxinemia, Dysprealbuminemic|DTTRH MONDO:0020760 skin squamous cell carcinoma in situ biolink:Disease mondo NCIT:C2906 Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion. NCIT:C2906 http://purl.obolibrary.org/obo/MONDO_0020760 squamous cell carcinoma in situ of skin|intraepidermal squamous cell carcinoma|squamous cell carcinoma in situ of the skin|skin squamous cell cancer in situ|skin squamous cell carcinoma in situ MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea biolink:Disease mondo MESH:C564156|OMIM:145590|UMLS:C1840373 MESH:C564156|UMLS:C1840373|http://identifiers.org/omim/145590 http://purl.obolibrary.org/obo/MONDO_0007782 hyperthermia, cutaneous, with headaches and nausea|farmer syndrome FOODON:03305803 goat milk (raw) biolink:OntologyClass mondo SUBSET_SIREN:F5803 http://purl.obolibrary.org/obo/FOODON_03305803 "subset_siren" MONDO:0007783 malignant hyperthermia, susceptibility to, 1 biolink:Disease mondo OMIM:145600|EFO:0009071|UMLS:CN031421|MESH:C535694|GARD:0003363 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene. UMLS:CN031421|MESH:C535694|http://identifiers.org/omim/145600 http://purl.obolibrary.org/obo/MONDO_0007783 hyperthermia of anesthesia|King-Denborough syndrome|RYR1 malignant hyperthermia of anesthesia|hyperpyrexia, malignant|MHS1|King syndrome|susceptibility to malignant hyperthermia 1|malignant hyperthermia, susceptibility to, type 1|MHS|hyperpyrexia, malignant;MH KING syndrome, included|King-Denborough syndrome, included|malignant hyperthermia, susceptibility to, 1; MHS1|malignant hyperthermia of anesthesia caused by mutation in RYR1|malignant hyperthermia, susceptibility to, 1|malignant hyperthermia susceptibility type 1 gard_rare|predisposition MONDO:0005121 Enterococcus faecalis infection biolink:Disease mondo EFO:0000780 A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens. http://purl.obolibrary.org/obo/MONDO_0005121 Enterococcus faecalis disease or disorder|Enterococcus faecalis infectious disease|Enterococcus faecalis caused disease or disorder MONDO:0007780 hypertelorism, Teebi type biolink:Disease mondo GARD:0000957|Orphanet:1519|UMLS:CN199596|UMLS:C0796179|SCTID:724284005|ICD10:Q87.0|OMIM:145420 Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes. ORPHA:1519|SNOMEDCT:724284005|UMLS:CN199596|http://identifiers.org/omim/145420|UMLS:C0796179 http://purl.obolibrary.org/obo/MONDO_0007780 hypertelorism, Teebi type|craniofrontonasal dysplasia, Teebi type|Teebi syndrome|Teebi hypertelorism syndrome|Brachycephalofrontonasal dysplasia ordo_malformation_syndrome MONDO:0007781 essential hypertension, genetic biolink:Disease mondo OMIM:145500 An instance of essential hypertension that is caused by a modification of the individual's genome. http://identifiers.org/omim/145500 http://purl.obolibrary.org/obo/MONDO_0007781 Eht|genetic essential hypertension|hypertension, essential MONDO:0005120 Drosophila C virus infection biolink:Disease mondo PMID:25253354|EFO:0000779 A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses. http://purl.obolibrary.org/obo/MONDO_0005120 Drosophila C virus disease or disorder|Drosophila C virus infectious disease|Drosophila C virus caused disease or disorder HP:0002059 Cerebral atrophy biolink:PhenotypicFeature mondo UMLS:C4020860|SNOMEDCT_US:278849000|UMLS:C0235946|SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002 Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. http://purl.obolibrary.org/obo/HP_0002059 Degeneration of cerebrum|Supratentorial atrophy MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 biolink:Disease mondo OMIM:600131 http://identifiers.org/omim/600131 http://purl.obolibrary.org/obo/MONDO_0020759 epilepsy, childhood absence, susceptibility to, 1; ECA1|epilepsy, childhood absence, susceptibility to, 1|ECA1 MONDO:0020758 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020758 MONDO:0020757 sporadic hemiplegic migraine biolink:Disease mondo NCIT:C117011 A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. NCIT:C117011 http://purl.obolibrary.org/obo/MONDO_0020757 sporadic hemiplegic migraine MONDO:0019779 Renier-Gabreels-Jasper syndrome biolink:Disease mondo Orphanet:93975|UMLS:CN206720|GARD:0004672|SCTID:723501008 Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). ORPHA:93975|SNOMEDCT:723501008|UMLS:CN206720 http://purl.obolibrary.org/obo/MONDO_0019779 Renier Gabreels Jasper syndrome gard_rare|ordo_malformation_syndrome MONDO:0017116 congenital communicating hydrocephalus biolink:Disease mondo Orphanet:269505|ICD10:Q03.8 ORPHA:269505 http://purl.obolibrary.org/obo/MONDO_0017116 congenital non-obstructive hydrocephalus ordo_clinical_subtype MONDO:0020756 migraine, familial hemiplegic, 1 biolink:Disease mondo OMIM:141500|GARD:0002638 http://identifiers.org/omim/141500 http://purl.obolibrary.org/obo/MONDO_0020756 migraine, familial hemiplegic, 1; FHM1|migraine, familial hemiplegic, 1|familial hemiplegic migraine type 1|migraine, familial hemiplegic 1, with progressive cerebellar ataxia|migraine, sporadic hemiplegic|migraine, familial hemiplegic, type 1|FHM1|hemiplegic migraine, familial type 1|MHP1 gard_rare MONDO:0019778 Smith-Fineman-Myers syndrome biolink:Disease mondo Orphanet:93974|GARD:0003521|SCTID:719212004|MESH:C537445|UMLS:C0796159 Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). UMLS:C0796159|ORPHA:93974|MESH:C537445|SNOMEDCT:719212004 http://purl.obolibrary.org/obo/MONDO_0019778 Smith Fineman Myers syndrome|mental retardation Smith Fineman Myers type|intellectual disability Smith Fineman Myers type ordo_malformation_syndrome MONDO:0017117 congenital non-communicating hydrocephalus biolink:Disease mondo ICD10:Q03.2|ICD10:Q03.1|SCTID:762295002|ICD10:Q03.8|Orphanet:269510 ORPHA:269510|SNOMEDCT:762295002 http://purl.obolibrary.org/obo/MONDO_0017117 congenital obstructive hydrocephalus ordo_clinical_subtype MONDO:0020755 heart block biolink:Disease mondo SCTID:233916004 SNOMEDCT:233916004 http://purl.obolibrary.org/obo/MONDO_0020755 MONDO:0017118 syndrome with a cerebellar malformation as major feature biolink:Disease mondo UMLS:CN202468|Orphanet:269523 ORPHA:269523|UMLS:CN202468 http://purl.obolibrary.org/obo/MONDO_0017118 ordo_group_of_disorders MONDO:0020754 visceral myopathy biolink:Disease mondo OMIM:155310 http://identifiers.org/omim/155310 http://purl.obolibrary.org/obo/MONDO_0020754 visceral myopathy; VSCM|infantile visceral myopathy|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal MONDO:0017119 syndrome with microcephaly as major feature biolink:Disease mondo Orphanet:269528|UMLS:CN202469 UMLS:CN202469|ORPHA:269528 http://purl.obolibrary.org/obo/MONDO_0017119 ordo_group_of_disorders MONDO:0019775 Chudley-Lowry-Hoar syndrome biolink:Disease mondo GARD:0001357|UMLS:CN206716|Orphanet:93971|SCTID:717763008 Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies). SNOMEDCT:717763008|ORPHA:93971|UMLS:CN206716 http://purl.obolibrary.org/obo/MONDO_0019775 intellectual disability-hypotonic facies syndrome X-linked, 1|Chudley-Lowry syndrome|SFM1|Chudley intellectual disability syndrome|Chudley mental retardation syndrome|Chudley syndrome 1|Smith Fineman Myers syndrome 1|mental retardation-hypotonic facies syndrome X-linked, 1|Chudley Lowry Hoar syndrome ordo_malformation_syndrome NCBITaxon:2499403 Tornidovirineae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2499403 MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia biolink:Disease mondo SCTID:766934006|Orphanet:269218|ICD10:Q04.3 Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. ORPHA:269218|SNOMEDCT:766934006 http://purl.obolibrary.org/obo/MONDO_0017112 ordo_morphological_anomaly MONDO:0019774 Holmes-Gang syndrome biolink:Disease mondo ICD10:Q87.0|UMLS:CN206715|Orphanet:93970 Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). ORPHA:93970|UMLS:CN206715 http://purl.obolibrary.org/obo/MONDO_0019774 ordo_malformation_syndrome MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia biolink:Disease mondo ICD10:Q04.3|Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. ORPHA:269221 http://purl.obolibrary.org/obo/MONDO_0017113 ordo_morphological_anomaly MONDO:0019777 Carpenter-Waziri syndrome biolink:Disease mondo UMLS:CN206718|Orphanet:93973 Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). ORPHA:93973|UMLS:CN206718 http://purl.obolibrary.org/obo/MONDO_0019777 ordo_malformation_syndrome MONDO:0017114 global cerebellar malformation biolink:Disease mondo ICD10:Q04.3|Orphanet:269224 ORPHA:269224 http://purl.obolibrary.org/obo/MONDO_0017114 diffuse cerebellar malformation ordo_group_of_disorders MONDO:0019776 Juberg-Marsidi syndrome biolink:Disease mondo Orphanet:93972|SCTID:721875000 Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). UMLS:C0796003|ORPHA:93972|SNOMEDCT:721875000|MESH:C537457 http://purl.obolibrary.org/obo/MONDO_0019776 juberg Marsidi syndrome ordo_malformation_syndrome MONDO:0017115 obsolete bifid nose biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017115 MONDO:0019771 oromandibular dystonia biolink:Disease mondo DOID:0050843|Orphanet:93958|ICD10:G24.4|UMLS:C0393607 Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles. DOID:0050843|UMLS:C0393607|ORPHA:93958 http://purl.obolibrary.org/obo/MONDO_0019771 ordo_disease MONDO:0019770 X-linked dominant intellectual disability-epilepsy syndrome biolink:Disease mondo Orphanet:93951|UMLS:CN227687 UMLS:CN227687|ORPHA:93951 http://purl.obolibrary.org/obo/MONDO_0019770 ordo_disease PATO:0002062 physical quality of a process biolink:OntologyClass mondo http://purl.obolibrary.org/obo/PATO_0002062 MONDO:0019773 myelomeningocele biolink:Disease mondo ICD10:Q05.5|EFO:1001369|ICD10:Q05.4|DOID:0060326|ICD10:Q05.3|ICD10:Q05.2|HP:0002475|ICD10:Q05.1|ICD10:Q05.0|MESH:D008591|ICD10:Q05|GARD:0003475|Orphanet:93969|ICD10:Q05.9|SCTID:414667000|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.6 Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect. ORPHA:93969|SNOMEDCT:414667000|MESH:D008591|DOID:0060326 http://purl.obolibrary.org/obo/MONDO_0019773 meningomyelocele gard_rare|ordo_morphological_anomaly MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus biolink:Disease mondo ICD10:Q03.1|Orphanet:269212 ORPHA:269212 http://purl.obolibrary.org/obo/MONDO_0017110 ordo_clinical_subtype MONDO:0019772 blepharospasm-oromandibular dystonia syndrome biolink:Disease mondo Orphanet:93964|GARD:0007008|ICD10:G24.8|DOID:3982|SCTID:230325003|MESH:D008538 Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia. SNOMEDCT:230325003|MESH:D008538|DOID:3982|ORPHA:93964 http://purl.obolibrary.org/obo/MONDO_0019772 Brueghel syndrome|segmental cranial dystonia|Meige's syndrome|blepharospasm - oromandibular dystonia|idiopathic blepharospasm-oromandibular dystonia syndrome|blepharospasm-oromandibular dystonia|oral facial dystonia|Meige syndrome|Meige dystonia ordo_disease MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus biolink:Disease mondo Orphanet:269215|ICD10:Q03.1 ORPHA:269215 http://purl.obolibrary.org/obo/MONDO_0017111 ordo_clinical_subtype MONDO:0005138 lung carcinoma biolink:Disease mondo EFO:0001071|DOID:3905|ICD10:C34.90|UMLS:C0684249|NCIT:C4878 A carcinoma that arises from epithelial cells of the lung NCIT:C4878|UMLS:C0684249|DOID:3905 http://purl.obolibrary.org/obo/MONDO_0005138 lung cancer|cancer of the lung|lung carcinoma|carcinoma of the lung|cancer of lung|carcinoma of lung|lung cancer, NOS MONDO:0005137 nutritional disorder biolink:Disease mondo UMLS:C3714509|MESH:D009748|NCIT:C26836|EFO:0001069|SCTID:2492009|ICD9:783.9|DOID:374 Any condition related to a disturbance between proper intake and utilization of nourishment. NCIT:C26836|UMLS:C3714509|DOID:374|MESH:D009748|SNOMEDCT:2492009 http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder|nutrition disease MONDO:0007799 hypophosphatemic bone disease biolink:Disease mondo MESH:C564145|OMIM:146350|UMLS:C1840321 MESH:C564145|http://identifiers.org/omim/146350|UMLS:C1840321 http://purl.obolibrary.org/obo/MONDO_0007799 hypophosphatemic bone disease|HBD|hypophosphatemic bone disease; HBD MONDO:0005139 morbid obesity biolink:Disease mondo MESH:D009767|DOID:11981|NIFSTD:nlx_dys_20090303|ICD9:278.01|UMLS:C0028756|SCTID:83911000119104|COHD:434005|EFO:0001074 An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight. DOID:11981|UMLS:C0028756|MESH:D009767|NCIT:C34858|SNOMEDCT:83911000119104 http://purl.obolibrary.org/obo/MONDO_0005139 severe obesity MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome biolink:Disease mondo DOID:0060878|Orphanet:2237|SCTID:724282009|ICD10:Q87.8|OMIM:146255|GARD:0002911|UMLS:C1840333|NCIT:C130983|MESH:C537907 The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. ORPHA:2237|MESH:C537907|http://identifiers.org/omim/146255|UMLS:C1840333|DOID:0060878|NCIT:C130983|SNOMEDCT:724282009 http://purl.obolibrary.org/obo/MONDO_0007797 hypoparathyroidism, sensorineural deafness, and renal disease|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome|nephrosis, nerve deafness, and hypoparathyroidism|hypoparathyroidism, deafness, and renal anomalies syndrome|Barakat syndrome|HDR|hypoparathyroidism, sensorineural deafness, and renal disease; HDR|HDR syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia ordo_malformation_syndrome MONDO:0020753 Orthocoronavirinae infectious disease biolink:Disease mondo DOID:0080599 Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19. DOID:0080599 http://purl.obolibrary.org/obo/MONDO_0020753 coronavirus infectious disease MONDO:0005134 experimental autoimmune encephalomyelitis biolink:Disease mondo MESH:D004681|EFO:0001066 An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis. NCIT:C3006|MESH:D004681 http://purl.obolibrary.org/obo/MONDO_0005134 MONDO:0020752 EJM1 biolink:Disease mondo OMIM:254770 http://identifiers.org/omim/254770 http://purl.obolibrary.org/obo/MONDO_0020752 predisposition MONDO:0007798 adult hypophosphatasia biolink:Disease mondo Orphanet:247676|DOID:0110913|SCTID:20756002|OMIM:146300|ICD10:E83.3|UMLS:C0268413 Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies. UMLS:C0268413|SNOMEDCT:20756002|http://identifiers.org/omim/146300|DOID:0110913|ORPHA:247676 http://purl.obolibrary.org/obo/MONDO_0007798 odontohypophosphatasia|adult Rathburn disease|adult phosphoethanolaminuria|hypophosphatasia of adults|hypophosphatasia, mild|hypophosphatasia, ADULT|mild hypophosphatasia ordo_clinical_subtype MONDO:0005133 endometriosis (disease) biolink:Disease mondo ICD9:617.8|SCTID:129103003|ICD9:617.9|ICD10:N80.9|COHD:433527|HP:0030127|MESH:D004715|ICD9:617|ICD10:N80|NCIT:C3014|DOID:289|EFO:0001065 The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. DOID:289|SNOMEDCT:129103003|NCIT:C3014|MESH:D004715 http://purl.obolibrary.org/obo/MONDO_0005133 endometriosis MONDO:0005136 malaria biolink:Disease mondo ICD10:B50.8|ICD10:B53.0|NCIT:C34797|COHD:438067|ICD10:B53.1|ICD10:B52.0|MedDRA:10025487|ICD10:B51.0|ICD10:B50.0|UMLS:C0024530|SCTID:61462000|ICD9:084.6|ICD10:B53|EFO:0001068|DOID:12365|ICD10:B54|ICD9:084|ICD10:B52.9|GARD:0006961|ICD10:B53.8|Orphanet:673|ICD10:B52.8|ICD10:B51.9|ICD10:B50.9|ICD10:B51.8|MESH:D008288 Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired. MEDDRA:10025487|SNOMEDCT:61462000|MESH:D008288|ORPHA:673|NCIT:C34797|UMLS:C0024530|DOID:12365 http://purl.obolibrary.org/obo/MONDO_0005136 induced malaria|plasmodiosis gard_rare|ordo_disease MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C1840335|OMIM:146160|GARD:0002908|MESH:C537155|Orphanet:2491 Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. ORPHA:2491|MESH:C537155|http://identifiers.org/omim/146160|UMLS:C1840335 http://purl.obolibrary.org/obo/MONDO_0007795 hypomelia mullerian duct anomalies|severe upper limb hypoplasia and Mullerian duct anomalies|Müllerian duct anomalies-limb anomalies syndrome|limb-uterus syndrome|hypomelia with mullerian duct anomalies|limb uterus syndrome ordo_malformation_syndrome MONDO:0020751 orthostatic hypotension 2 biolink:Disease mondo OMIM:618182 http://identifiers.org/omim/618182 http://purl.obolibrary.org/obo/MONDO_0020751 MONDO:0005135 parasitic infection biolink:Disease mondo NCIT:C27864|ICD10:H44.12|SCTID:17322007|MESH:D010272|DOID:1398|ICD9:134.9|ICD9:136.9|EFO:0001067|ICD9:360.13|ICD9:136.8|ICD9:136.4|ICD9:134.8|ICD9:129|ICD9:376.13 A successful invasion of a host by an organism that uses the host for food and shelter. MESH:D010272|SNOMEDCT:17322007|DOID:1398|NCIT:C27864 http://purl.obolibrary.org/obo/MONDO_0005135 parasitic infectious disease|parasitic infection|diseases, parasitic|parasite infestation|parasitemia|parasitism|disease, parasitic|disease caused by parasite|ectoparasitic disease|parasitic disease|infestation|parasitosis MONDO:0007796 hypoparathyroidism, familial isolated 1 biolink:Disease mondo OMIM:146200|SCTID:237657009 SNOMEDCT:237657009|http://identifiers.org/omim/146200 http://purl.obolibrary.org/obo/MONDO_0007796 hypoparathyroidism, familial isolated|hypoparathyroidism familial isolated|hypoparathyroidism, autosomal dominant|hypoparathyroidism, familial isolated 1; FIH1|hypoparathyroidism, familial isolated; FIH|hypoparathyroidism, autosomal recessive|FIH1 gard_rare MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 biolink:Disease mondo OMIM:618193 http://identifiers.org/omim/618193 http://purl.obolibrary.org/obo/MONDO_0020750 MONDO:0005130 celiac disease biolink:Disease mondo GARD:0011998|COHD:194992|DOID:10608|EFO:0001060|OMIMPS:212750|ICD9:579.0|MESH:D002446|SCTID:396331005|NCIT:C26714|ICD10:K90.0|UMLS:C0007570 An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. MESH:D002446|UMLS:C0007570|SNOMEDCT:396331005|NCIT:C26714|DOID:10608 http://purl.obolibrary.org/obo/MONDO_0005130 non tropical sprue|idiopathic steatorrhea|gluten-induced enteropathy|coeliac disease|celiac sprue MONDO:0007793 hypochondroplasia biolink:Disease mondo SCTID:205468002|OMIM:146000|ICD9:756.9|GARD:0006724|UMLS:C0410529|NCIT:C118697|ICD10:Q77.4|Orphanet:429|MESH:C562937|MedDRA:10020967|DOID:0080041 Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. NCIT:C118697|DOID:0080041|UMLS:C0410529|ORPHA:429|http://identifiers.org/omim/146000|MEDDRA:10020967|SNOMEDCT:205468002|MESH:C562937 http://purl.obolibrary.org/obo/MONDO_0007793 HCH|hypochondroplasia; HCH|hypochondroplasia ordo_disease|gard_rare MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia biolink:Disease mondo DOID:0090078|SCTID:123953004|ICD10:E23.0|ICD9:253.4|OMIM:146110 A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. DOID:0090078|http://identifiers.org/omim/146110|SNOMEDCT:123953004 http://purl.obolibrary.org/obo/MONDO_0007794 idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 7 with or without anosmia|hypogonadism, isolated hypogonadotropic|hypogonadotropic hypogonadism 7 with or without anosmia; HH7|HH7 MONDO:0005132 cytomegalovirus infection biolink:Disease mondo ICD9:078.5|MESH:D003586|NCIT:C53649|COHD:440032|SCTID:28944009|EFO:0001062|UMLS:C0010823 A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. NCIT:C53649|SNOMEDCT:28944009|UMLS:C0010823|NCIT:C112314|MESH:D003586 http://purl.obolibrary.org/obo/MONDO_0005132 Cytomegaloviral infection|HCMV infection|CMV infection MONDO:0007791 familial hypocalciuric hypercalcemia 1 biolink:Disease mondo Orphanet:93372|SCTID:704166007|MESH:C537145|OMIM:145980|MedDRA:10068704|GARD:0002796|ICD10:E83.5|DOID:0060700 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene. MESH:C537145|DOID:0060700|SNOMEDCT:704166007|ORPHA:93372|http://identifiers.org/omim/145980|MEDDRA:10068704 http://purl.obolibrary.org/obo/MONDO_0007791 Fhh1|hypocalciuric hypercalcemia, familial, type 1|familial hypocalciuric hypercalcemia type I|hypocalciuric hypercalcemia type I|hypocalciuric hypercalcemia, familial, type I; HHC1|FBH1|familial benign hypercalcemia type 1|CASR familial hypocalciuric hypercalcemia|familial hypocalciuric hypercalcemia type 1|HHC1|familial hypocalciuric hypercalcemia caused by mutation in CASR|FHH type 1|hypercalcemia, familial benign|hypocalciuric hypercalcemia, familial, type I|familial benign hypercalcemia 1|hypocalciuric hypercalcemia, acquired|hypercalcemia, familial benign type 1 ordo_etiological_subtype MONDO:0007792 familial hypocalciuric hypercalcemia 2 biolink:Disease mondo MESH:C537146|ICD10:E83.5|OMIM:145981|GARD:0009758|UMLS:C1840347|Orphanet:101049|DOID:0060701 A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. MESH:C537146|ORPHA:101049|UMLS:C1840347|DOID:0060701|UMLS:C2931427|http://identifiers.org/omim/145981 http://purl.obolibrary.org/obo/MONDO_0007792 hypocalciuric hypercalcemia, familial, type II|hypocalciuric hypercalcemia, familial, type 2|FBH2|HHC2|familial hypocalciuric hypercalcemia type 2|hypocalciuric hypercalcemia, familial, type II; HHC2|familial benign hypercalcemia, type 2|hypocalciuric hypercalcemia type II|hypercalcemia, familial benign, type 2|FHH type 2|hypercalcemia, familial benign type 2 ordo_etiological_subtype MONDO:0005131 cervical carcinoma biolink:Disease mondo SCTID:285432005|NCIT:C9039|DOID:2893|EFO:0001061|UMLS:C0302592 A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. NCIT:C9039|UMLS:C0302592|DOID:2893|SNOMEDCT:285432005 http://purl.obolibrary.org/obo/MONDO_0005131 carcinoma of the uterine cervix|carcinoma of uterine cervix|uterine cervix carcinoma|carcinoma of cervix|carcinoma of the cervix uteri|carcinoma cervix uteri|cancer of cervix|uterine cervix cancer|cervix uteri carcinoma|cervix cancer|cancer of cervix|cancer of the cervix|cervix carcinoma|cervical cancer, NOS|carcinoma of the cervix|cancer of uterine cervix|cervical carcinoma|carcinoma of cervix uteri|cancer of the uterine cervix|cervical cancer HP:0002069 Bilateral tonic-clonic seizure biolink:PhenotypicFeature mondo MSH:D012640|UMLS:C0494475|SNOMEDCT_US:54200006 A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. http://purl.obolibrary.org/obo/HP_0002069 Bilateral convulsive seizures|Tonic-clonic convulsion|Generalised tonic-clonic seizure (without specification of onset)|Generalized convulsion|Seizures, tonic-clonic|Grand mal|Tonic-clonic convulsions|Generalized tonic-clonic seizure (without specification of onset)|Grand mal seizures MONDO:0017109 isolated partial cerebellar vermis agenesis biolink:Disease mondo ICD10:Q04.3|Orphanet:269209 ORPHA:269209 http://purl.obolibrary.org/obo/MONDO_0017109 ordo_clinical_subtype MONDO:0007790 Charcot-Marie-Tooth disease type 3 biolink:Disease mondo NCIT:C133087|ICD10:G60.0|SCTID:111499002|DOID:0050540|OMIM:145900|UMLS:C0011195|Orphanet:64748|GARD:0009204 UMLS:C0011195|DOID:0050540|ORPHA:64748|http://identifiers.org/omim/145900|SNOMEDCT:111499002|MESH:C538392|NCIT:C133087 http://purl.obolibrary.org/obo/MONDO_0007790 Charcot-Marie-Tooth disease, type 3|HMSN III|Dejerine-Sottas syndrome|Charcot-Marie-Tooth disease type 3|Dejerine-Sottas neuropathy|HMSN 3|CMT3|hypertrophic neuropathy of Dejerine-Sottas|hereditary motor and sensory neuropathy type 3|hypertrophic neuropathy of infancy|hereditary motor and sensory neuropathy 3|hereditary motor and sensory neuropathy type III|HMSN3|DSN ordo_disease FOODON:00001046 seafood product biolink:OntologyClass mondo A seafood product is a vertebrate or invertibrate organism from an aquatic environment. http://purl.obolibrary.org/obo/FOODON_00001046 MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 biolink:Disease mondo OMIM:221770 http://identifiers.org/omim/221770 http://purl.obolibrary.org/obo/MONDO_0020749 MONDO:0020748 sitosterolemia 2 biolink:Disease mondo OMIM:618666 http://identifiers.org/omim/618666 http://purl.obolibrary.org/obo/MONDO_0020748 STSL2 MONDO:0020747 sitosterolemia 1 biolink:Disease mondo OMIM:210250 http://identifiers.org/omim/210250 http://purl.obolibrary.org/obo/MONDO_0020747 STSL1 MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type biolink:Disease mondo Orphanet:93947|UMLS:CN206703 Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. ORPHA:93947|UMLS:CN206703 http://purl.obolibrary.org/obo/MONDO_0019768 ordo_clinical_subtype MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B biolink:Disease mondo OMIM:618469 http://identifiers.org/omim/618469 http://purl.obolibrary.org/obo/MONDO_0020746 MONDO:0017105 glioependymal/ependymal cyst biolink:Disease mondo Orphanet:269197 Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias). ORPHA:269197 http://purl.obolibrary.org/obo/MONDO_0017105 ordo_morphological_anomaly MONDO:0017106 retrocerebellar cyst (disease) biolink:Disease mondo Orphanet:269200|HP:0006951 ORPHA:269200 http://purl.obolibrary.org/obo/MONDO_0017106 Retrocerebellar cyst|Retrocerebellar arachnoid cyst ordo_morphological_anomaly MONDO:0019767 hamel cerebro-palato-cardiac syndrome biolink:Disease mondo Orphanet:93946|UMLS:CN206702 Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. ORPHA:93946|UMLS:CN206702 http://purl.obolibrary.org/obo/MONDO_0019767 ordo_clinical_subtype MONDO:0020745 autosomal dominant cardiac arrhythmia (Kuhn) biolink:Disease mondo OMIM:115000 http://identifiers.org/omim/115000 http://purl.obolibrary.org/obo/MONDO_0020745 cardiac arrhythmia|extrasystoles n_of_one MONDO:0020744 Mobitz type I atrioventricular block biolink:Disease mondo NCIT:C62017 A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC) NCIT:C62017 http://purl.obolibrary.org/obo/MONDO_0020744 second degree atrioventricular block Mobitz type I|type 1 second degree AV block|Möbitz I|AV block second degree Mobitz type I|Wenckebach block|Möbitz type I second degree AV block|second degree atrioventricular block Möbitz type I|type 1 2nd degree AV block|Mobitz I|AV block second degree Möbitz type I|Mobitz type I second degree AV block|type 1 second degree atrioventricular block|Mobitz type I MONDO:0017107 isolated cerebellar vermis agenesis biolink:Disease mondo ICD10:Q04.3|Orphanet:269203 ORPHA:269203 http://purl.obolibrary.org/obo/MONDO_0017107 ordo_morphological_anomaly MONDO:0020743 mixed phenotype acute leukemia biolink:Disease mondo Orphanet:530995|MedDRA:10067399|ICD10:C95.0|NCIT:C82179 An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage. ORPHA:530995|NCIT:C82179 http://purl.obolibrary.org/obo/MONDO_0020743 mixed phenotype acute leukemia|MPAL ordo_disease MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type biolink:Disease mondo UMLS:CN206704|Orphanet:93950 ORPHA:93950|UMLS:CN206704 http://purl.obolibrary.org/obo/MONDO_0019769 ordo_clinical_subtype MONDO:0017108 isolated total cerebellar vermis agenesis biolink:Disease mondo Orphanet:269206|ICD10:Q04.3 ORPHA:269206 http://purl.obolibrary.org/obo/MONDO_0017108 ordo_clinical_subtype MONDO:0017101 isolated focal cortical dysplasia type IIa biolink:Disease mondo ICD10:Q04.8|Orphanet:269001 ORPHA:269001 http://purl.obolibrary.org/obo/MONDO_0017101 FCD type IIa ordo_histopathological_subtype MONDO:0019764 laryngotracheoesophageal cleft type 4 biolink:Disease mondo Orphanet:93941|ICD10:Q32.1|UMLS:CN206699 Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress. ORPHA:93941|UMLS:CN206699 http://purl.obolibrary.org/obo/MONDO_0019764 LTEC4|LTEC IV|laryngo-tracheo-esophageal cleft type 4 ordo_clinical_subtype MONDO:0017102 isolated focal cortical dysplasia type IIb biolink:Disease mondo ICD10:Q04.8|Orphanet:269008|UMLS:CN202460 ORPHA:269008|UMLS:CN202460 http://purl.obolibrary.org/obo/MONDO_0017102 FCD type IIb ordo_histopathological_subtype MONDO:0019763 laryngotracheoesophageal cleft type 3 biolink:Disease mondo ICD10:Q32.1|Orphanet:93940|UMLS:CN206698 Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage. ORPHA:93940|UMLS:CN206698 http://purl.obolibrary.org/obo/MONDO_0019763 LTEC3|laryngo-tracheo-esophageal cleft type 3|LTEC III ordo_clinical_subtype MONDO:0019766 X-linked intellectual disability, Porteous type biolink:Disease mondo Orphanet:93945|UMLS:CN206701 ORPHA:93945|UMLS:CN206701 http://purl.obolibrary.org/obo/MONDO_0019766 ordo_clinical_subtype MONDO:0017103 encephaloclastic disorder biolink:Disease mondo UMLS:CN227080|Orphanet:269190 ORPHA:269190|UMLS:CN227080 http://purl.obolibrary.org/obo/MONDO_0017103 ordo_group_of_disorders HP:0002060 Abnormal cerebral morphology biolink:PhenotypicFeature mondo UMLS:C4021762 Any structural abnormality of the telencephalon, which is also known as the cerebrum. http://purl.obolibrary.org/obo/HP_0002060 Abnormality of the cerebrum|Abnormality of the telencephalon MONDO:0019765 Celosomia biolink:Disease mondo ICD10:Q76.7|Orphanet:93942|SCTID:44518003|ICD9:759.89 SNOMEDCT:44518003|ORPHA:93942 http://purl.obolibrary.org/obo/MONDO_0019765 ordo_morphological_anomaly MONDO:0017104 central nervous system cystic malformation biolink:Disease mondo Orphanet:269194 ORPHA:269194 http://purl.obolibrary.org/obo/MONDO_0017104 ordo_group_of_disorders MONDO:0019760 terminal transverse defects of arm biolink:Disease mondo ICD10:Q79.8|UMLS:C1857578|Orphanet:93937 ORPHA:93937|UMLS:C1857578 http://purl.obolibrary.org/obo/MONDO_0019760 congenital limb amputation ordo_morphological_anomaly PATO:0002072 decreased affinity biolink:OntologyClass mondo An affinity which is relatively low. http://purl.obolibrary.org/obo/PATO_0002072 NCBITaxon:2499411 Articulavirales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2499411 HP:0002066 Gait ataxia biolink:PhenotypicFeature mondo MSH:D020234|UMLS:C0751837|SNOMEDCT_US:25136009 A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. http://purl.obolibrary.org/obo/HP_0002066 Inability to coordinate movements when walking|Ataxic gait|Ataxia of gait NCBITaxon:32594 Babesiidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_32594 MONDO:0019762 laryngotracheoesophageal cleft type 2 biolink:Disease mondo ICD10:Q32.1|Orphanet:93939|UMLS:CN206697 Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections. ORPHA:93939|UMLS:CN206697 http://purl.obolibrary.org/obo/MONDO_0019762 laryngo-tracheo-esophageal cleft type 2|LTEC II|LTEC2 ordo_clinical_subtype HP:0002063 Rigidity biolink:PhenotypicFeature mondo MSH:D009127|UMLS:C0026837|SNOMEDCT_US:16046003 Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. http://purl.obolibrary.org/obo/HP_0002063 Rigidity|Muscle rigidity PATO:0002070 affinity biolink:OntologyClass mondo A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. http://purl.obolibrary.org/obo/PATO_0002070 MONDO:0017100 neutropenia-monocytopenia-deafness syndrome biolink:Disease mondo UMLS:CN202458|ICD10:D82.8|Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. UMLS:CN202458|ORPHA:2690 http://purl.obolibrary.org/obo/MONDO_0017100 ordo_disease MONDO:0019761 laryngotracheoesophageal cleft type 1 biolink:Disease mondo ICD10:Q32.1|Orphanet:93938|UMLS:CN206696 Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms. ORPHA:93938|UMLS:CN206696 http://purl.obolibrary.org/obo/MONDO_0019761 LTEC1|laryngo-tracheo-esophageal cleft type 1|LTEC I ordo_clinical_subtype PATO:0002071 increased affinity biolink:OntologyClass mondo An affinity which is relatively high. http://purl.obolibrary.org/obo/PATO_0002071 MONDO:0005109 HIV infectious disease biolink:Disease mondo UMLS:C0019693|SCTID:86406008|ICD10:B20|ICD9:042-042.99|DOID:526|NCIT:C3108|EFO:0000764|ICD9:042|MESH:D015658|ICD10:B20-B20|ICD10:B20.B24 An infection caused by the human immunodeficiency virus. UMLS:C0019693|SNOMEDCT:86406008|NCIT:C3108|MESH:D015658|DOID:526 http://purl.obolibrary.org/obo/MONDO_0005109 Human immunodeficiency virus caused disease or disorder|HIV infection|human immunodeficiency virus infectious disease|Human immunodeficiency virus infectious disease|Human immunodeficiency virus disease or disorder MONDO:0005108 viral infectious disease biolink:Disease mondo ICD9:066.9|MESH:D014777|ICD10:B34.9|ICD9:060-066.99|ICD10:A94|DOID:934|ICD9:079.99|ICD9:078.89|COHD:440029|EFO:0000763|SCTID:34014006|NCIT:C3439|ICD10:B34 Any disease caused by a virus. NCIT:C3439|MESH:D014777|SNOMEDCT:34014006|DOID:934 http://purl.obolibrary.org/obo/MONDO_0005108 Viruses infectious disease|Viruses caused disease or disorder|viral disorder|infections, Viruses|viral disease|infection, viral|Viruses disease or disorder|Viruses infection|virus infection|viral infection MONDO:0007768 hyperparathyroidism-jaw tumor syndrome biolink:Disease mondo SCTID:702378002|OMIM:145001|ICD10:E21.0|NCIT:C48287|Orphanet:99880|UMLS:C1704981|GARD:0010829 An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. http://identifiers.org/omim/145001|UMLS:C1704981|NCIT:C48287|ORPHA:99880|SNOMEDCT:702378002 http://purl.obolibrary.org/obo/MONDO_0007768 hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism 2 with jaw tumors|hyperparathyroidism type 2|parathyroid adenomatosis, familial cystic|hyperparathyroidism-2|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|hyperparathyroidism 2 with jaw tumors; HRPT2|hyperparathyroidism 2; HRPT2|hyperparathyroidism-jaw tumor syndrome, hereditary|hereditary hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism 2|HPT-JT|HRPT2|familial primary hyperparathyroidism with multiple ossifying jaw fibromas ordo_disease|gard_rare MONDO:0005105 melanoma (disease) biolink:Disease mondo MESH:D008545|EFO:0000756|DOID:1909|UMLS:C0025202|HP:0002861|KEGG:05218|UMLS:CN971653|NCIT:C3224|ICDO:8720/3|SCTID:372244006|ONCOTREE:MEL A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. DOID:1909|NCIT:C3224|UMLS:CN971653|SNOMEDCT:372244006|UMLS:C0025202|MESH:D008545 http://purl.obolibrary.org/obo/MONDO_0005105 melanoma|malignant melanoma|Naevocarcinoma|melanoma, malignant MONDO:0007769 hyperpigmentation of eyelid biolink:Disease mondo EFO:1000711|DOID:10122|UMLS:C0155211|ICD10:H02.71|SCTID:41115008|MESH:C562400|OMIM:145100|COHD:440112|ICD9:374.52 Over-production of pigment in the eyelid. UMLS:C0155211|SNOMEDCT:41115008|http://identifiers.org/omim/145100|DOID:10122|MESH:C562400 http://purl.obolibrary.org/obo/MONDO_0007769 dyspigmentation of eyelid|hyperpigmentation of eyelids MONDO:0005104 aJCC grade 1 sarcoma biolink:Disease mondo EFO:0000737|UMLS:C1332066|NCIT:C9419 Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma) UMLS:C1332066|NCIT:C9419 http://purl.obolibrary.org/obo/MONDO_0005104 aJCC grade 1 sarcoma|well differentiated sarcoma|aJCC G1 sarcoma|aJCC grade I sarcoma MONDO:0007766 Morgagni-Stewart-Morel syndrome biolink:Disease mondo ICD10:M85.2|NCIT:C84772|SCTID:82054006|MESH:D006957|Orphanet:77296|GARD:0008593|OMIM:144800 Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant. SNOMEDCT:82054006|ORPHA:77296|MESH:D006957|NCIT:C84772|http://identifiers.org/omim/144800 http://purl.obolibrary.org/obo/MONDO_0007766 hyperostosis frontalis interna, obesity, shortness and cognitive impairment|MSM syndrome|Morgagni-Stewart-Morel syndrome|hyperostosis frontalis interna ordo_malformation_syndrome|gard_rare MONDO:0005107 obsolete hepatocellular adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005107 MONDO:0005106 lipoma biolink:Disease mondo SCTID:93163002|EFO:0000759|NCIT:C3192|MESH:D008067|ICD9:214.9|UMLS:C0023798|ICD9:214|ICD10:D17|ICDO:8850/0|COHD:440358|DOID:3315|ICD10:D17.9 A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. UMLS:C0023798|SNOMEDCT:93163002|NCIT:C3192|MESH:D008067|DOID:3315 http://purl.obolibrary.org/obo/MONDO_0005106 lipomatous neoplasm (morphologic abnormality)|lipoma, benign|benign lipomatous tumor|lipomatous neoplasm|lipomatosis, familial multiple|lipoma|benign tumor of adipose tissue|multiple lipomatosis|lipomatous tumor|tumor of adipose tissue MONDO:0007767 hyperparathyroidism 1 biolink:Disease mondo UMLS:C1840402|OMIM:145000 UMLS:C1840402|http://identifiers.org/omim/145000 http://purl.obolibrary.org/obo/MONDO_0007767 HRPT1|hyperparathyroidism 1|hyperparathyroidism type 1|hyperparathyroidism 1; HRPT1|parathyroid adenoma, familial|hyperparathyroidism, familial isolated primary MONDO:0005101 ulcerative colitis (disease) biolink:Disease mondo SCTID:64766004|ICD10:K51|UMLS:C0009324|ICD9:556.5|ICD10:K51.9|ICD9:556.8|MESH:D003093|NCIT:C2952|DOID:8577|EFO:0000729|ICD9:556|HP:0100279|ICD9:556.9 An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. MESH:D003093|DOID:8577|SNOMEDCT:64766004|UMLS:C0009324|NCIT:C2952 http://purl.obolibrary.org/obo/MONDO_0005101 ulcerative colitis|left-sided ulcerative colitis|colitis ulcerative MONDO:0007764 autosomal dominant osteosclerosis, Worth type biolink:Disease mondo OMIM:144750|GARD:0000390|Orphanet:2790|ICD10:Q78.2 Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. UMLS:C2931308|http://identifiers.org/omim/144750|ORPHA:2790|UMLS:C0432273 http://purl.obolibrary.org/obo/MONDO_0007764 endosteal hyperostosis, Worth type|Ostéosclérose autosomique dominante type Worth|osteosclerosis, autosomal dominant|Worth syndrome|osteosclerosis, autosomal dominant, Worth type|hyperostosis corticalis generalisata, benign form of Worth with torus palatinus|endosteal hyperostosis, autosomal dominant|hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus ordo_malformation_syndrome MONDO:0020742 obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome biolink:Disease mondo MESH:C537965|OMIM:212540|Orphanet:1317|GARD:0001060 ORPHA:1317|MESH:C537965|http://identifiers.org/omim/212540 http://purl.obolibrary.org/obo/MONDO_0020742 CAMAK syndrome|cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome|cataract, microcephaly, arthrogryposis, kyphosis syndrome|cataract-microcephaly-failure to thrive-kyphoscoliosis|CAMFAK syndrome MONDO:0005100 systemic sclerosis biolink:Disease mondo ICD10:M34.9|Orphanet:90291|MedDRA:10042953|UMLS:CN206012|ICD10:M34.8|ICD9:710.1|GARD:0009748|ICD10:M34.2|EFO:0000717|DOID:418|ICD10:M34.1|MESH:D012595|ICD10:M34.0|NCIT:C72070|SCTID:89155008|COHD:134442 A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. MEDDRA:10042953|ORPHA:90291|DOID:418|MESH:D012595|UMLS:CN206012|SNOMEDCT:89155008|NCIT:C72070 http://purl.obolibrary.org/obo/MONDO_0005100 Scleroderma|Scleroderma, systemic|systemic scleroderma|PSS|diffuse sclerosis|SSc|progressive systemic sclerosis|systemic Scleroderma|Scleroderma (& [systemic sclerosis])|systemic sclerosis|PSS (progressive systemic sclerosis)|SSc, diffuse sclerosis|diffuse Scleroderma|Scleroderma syndrome|Scleroderma, diffuse ordo_disease MONDO:0007765 hyperostosis cranialis interna (disease) biolink:Disease mondo Orphanet:443098|ICD10:M85.2|HP:0005890|MESH:C564168|OMIM:144755 ORPHA:443098|http://identifiers.org/omim/144755|MESH:C564168 http://purl.obolibrary.org/obo/MONDO_0007765 hyperostosis cranialis interna|hyperostosis cranialis interna; HCIN|HCIN ordo_disease MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant biolink:Disease mondo OMIM:266100 http://identifiers.org/omim/266100 http://purl.obolibrary.org/obo/MONDO_0020741 EPD|epilepsy, pyridoxine-dependent; Epd|pyridoxine-dependent epilepsy|AASA dehydrogenase deficiency|epilepsy, pyridoxine-dependent|pyridoxine dependency with seizures MONDO:0005103 well-differentiated liposarcoma biolink:Disease mondo NCIT:C4250|Orphanet:99971|EFO:0000736|ICDO:8851/3|ICD10:C49.9|ONCOTREE:WDLS|UMLS:C1370889 A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation. UMLS:C1370889|NCIT:C4250|ORPHA:99971 http://purl.obolibrary.org/obo/MONDO_0005103 atypical lipomatous tumor|well-differentiated liposarcoma|ALT|atypical lipoma|WDLS|well differentiated liposarcoma of deep soft tissue|well differentiated liposarcoma ordo_histopathological_subtype MONDO:0007762 hyperlipoproteinemia type V biolink:Disease mondo DOID:1171|SCTID:34349009|Orphanet:70470|MESH:D006954|OMIM:144650|GARD:0006704|MedDRA:10060755|ICD10:E78.3 A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I. MEDDRA:10060755|UMLS:C0020481|http://identifiers.org/omim/144650|NCIT:C35645|ORPHA:70470|DOID:1171|SNOMEDCT:34349009|MESH:D006954 http://purl.obolibrary.org/obo/MONDO_0007762 hyperchylomicronemia with Hyperprebetalipoproteinemia, familial|hyperlipemia combined fat and carbohydrate-induced|hyperlipemia mixed|hyperlipemia, combined fat and carbohydrate-induced|hyperlipemia, mixed|hyperlipidemia type V|HLP type 5|hyperlipoproteinemia, type V|hyperlipoproteinemia, type 5|mixed hyperlipemia|type V hyperlipoproteinemia|familial type 5 hyperlipoproteinemia|hyperlipidemia, type 5|major hyperlipidemia|familial hyperlipoproteinemia type V|hyperchylomicronemia late onset|hyperchylomicronemia, late-onset|hyperlipoproteinemia type 5|Fredrickson type V lipaemia ordo_disease|gard_rare MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 biolink:Disease mondo OMIM:300291 http://identifiers.org/omim/300291 http://purl.obolibrary.org/obo/MONDO_0020740 ectodermal dysplasia, anhidrotic, with immune deficiency 1|EDA-Id|EDAID1|HED-Id|ectodermal dysplasia, hypohidrotic, with immune deficiency 1 MONDO:0005102 undifferentiated (embryonal) sarcoma biolink:Disease mondo UMLS:C0855073|ICDO:8991/3|GARD:0008650|EFO:0000730|ICDO:8805/3|NCIT:C27096 An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells. UMLS:C0855073|NCIT:C27096 http://purl.obolibrary.org/obo/MONDO_0005102 sarcoma, undifferentiated, malignant|undifferentiated (embryonal) sarcoma|embryonal sarcoma (undifferentiated sarcoma)|undifferentiated sarcoma|embryonal sarcoma|embryonal sarcoma, undifferentiated|UES MONDO:0007763 nonpapillary renal cell carcinoma biolink:Disease mondo Orphanet:319276|ICD10:C64|DOID:0050387|OMIM:144700 ORPHA:319276|http://identifiers.org/omim/144700|DOID:0050387 http://purl.obolibrary.org/obo/MONDO_0007763 renal cell carcinoma, nonpapillary|CCRCC|nonpapillary renal carcinoma 1 locus|RCC|adenocarcinoma of kidney|clear cell renal cell carcinoma|clear cell renal cell adenocarcinoma|renal cell carcinoma, nonpapillary; RCC|hypernephroma ordo_disease MONDO:0007760 hyperlipoproteinemia, type II, and deafness biolink:Disease mondo UMLS:C1840425|MESH:C564170|OMIM:144300 http://identifiers.org/omim/144300|MESH:C564170|UMLS:C1840425 http://purl.obolibrary.org/obo/MONDO_0007760 hyperlipoproteinemia, type II, and deafness MONDO:0007761 hyperlipoproteinemia type IV biolink:Disease mondo ICD9:272.1|OMIM:144600|GARD:0006418|UMLS:CN074246|MESH:D006953|SCTID:238085009|ICD10:E78.1|DOID:1172 A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration. http://identifiers.org/omim/144600|UMLS:CN074246|SNOMEDCT:238085009|NCIT:C34711|DOID:1172|MESH:D006953 http://purl.obolibrary.org/obo/MONDO_0007761 Fredrickson type IV Lipidemia|hyperlipoproteinemia, type IV|endogenous hyperlipidaemia|Fredrickson type IV hyperlipoproteinemia|carbohydrate-inducible hyperlipemia|familial hypertriglyceridemia|familial type IV hyperlipoproteinemia|VLDL hyperlipoproteinemia|hyperlipoproteinemia, type 4|carbohydrate inducible hyperlipemia|Fredrickson type IV lipidaemia|hyperlipoproteinemia type 4 gard_rare MONDO:0020739 autosomal recessive infantile hypercalcemia 1 biolink:Disease mondo OMIM:143880|UMLS:C0268080 UMLS:C0268080|http://identifiers.org/omim/143880 http://purl.obolibrary.org/obo/MONDO_0020739 HCINF1|hypercalcemia, infantile, 1|hypercalcemia, infantile, 1; HCINF1 MONDO:0020738 multiple benign circumferential skin creases on limbs 1 biolink:Disease mondo OMIM:156610 http://identifiers.org/omim/156610 http://purl.obolibrary.org/obo/MONDO_0020738 skin creases, congenital symmetric circumferential, 1; CSCSC1|skin creases, congenital symmetric circumferential, 1|CSCSC1 HP:0002034 Abnormal rectum morphology biolink:PhenotypicFeature mondo UMLS:C0266210|SNOMEDCT_US:86993003 An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. http://purl.obolibrary.org/obo/HP_0002034 Abnormality of the rectum|Anomaly of the rectum MONDO:0020737 optic atrophy 10 with or without ataxia, mental retardation, and seizures biolink:Disease mondo OMIM:616732 http://identifiers.org/omim/616732 http://purl.obolibrary.org/obo/MONDO_0020737 OPA10|optic atrophy 10 with or without ataxia, mental retardation, and seizures|optic atrophy 10 with or without ataxia, intellectual disability, and seizures|optic atrophy 10 with or without ataxia, mental retardation, and seizures; OPA10|optic atrophy 10 with or without ataxia, intellectual disability, and seizures; OPA10 MONDO:0020736 uncombable hair syndrome 1 biolink:Disease mondo OMIM:191480 http://identifiers.org/omim/191480 http://purl.obolibrary.org/obo/MONDO_0020736 uncombable hair syndrome 1|uncombable hair syndrome|UHS1|uncombable hair syndrome 1; UHS1|pili trianguli Et canaliculi HP:0002035 Rectal prolapse biolink:PhenotypicFeature mondo MSH:D012005|UMLS:C0034888|MEDDRA:10038077|SNOMEDCT_US:57773001 Protrusion of the rectal mucous membrane through the anus. http://purl.obolibrary.org/obo/HP_0002035 Rectal prolapsed|Rectum protrudes through anus hposlim_core MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 biolink:Disease mondo OMIM:219080|UMLS:C1857451 UMLS:C1857451|http://identifiers.org/omim/219080 http://purl.obolibrary.org/obo/MONDO_0020735 AIMAH1|Cushing syndrome, adrenal, due to AIMAH|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent macronodular adrenal hyperplasia|ACTH-independent macronodular adrenal hyperplasia; AIMAH1|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia MONDO:0019757 alobar holoprosencephaly biolink:Disease mondo Orphanet:93925|ICD10:Q04.2|SCTID:253137003 Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure. ORPHA:93925|SNOMEDCT:253137003|UMLS:C0431363 http://purl.obolibrary.org/obo/MONDO_0019757 ordo_clinical_subtype MONDO:0019756 lobar holoprosencephaly biolink:Disease mondo Orphanet:93924|SCTID:253136007|ICD10:Q04.2 Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally. ORPHA:93924|SNOMEDCT:253136007|UMLS:C0431362 http://purl.obolibrary.org/obo/MONDO_0019756 ordo_clinical_subtype MONDO:0020734 erythrocyte AMP deaminase deficiency biolink:Disease mondo OMIM:612874|UMLS:C2752073 http://identifiers.org/omim/612874|UMLS:C2752073 http://purl.obolibrary.org/obo/MONDO_0020734 erythrocyte AMP deaminase deficiency MONDO:0019759 epispadias (disease) biolink:Disease mondo MESH:D004842|UMLS:C0014588|ICD9:752.62|ICD10:Q64.0|HP:0000039|UMLS:CN227686|SCTID:406476007|Orphanet:93928|MedDRA:10015088|NCIT:C98923 Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. SNOMEDCT:406476007|UMLS:C0563449|NCIT:C98923|MESH:D004842|ORPHA:93928|UMLS:CN227686|UMLS:C0014588|MEDDRA:10015088 http://purl.obolibrary.org/obo/MONDO_0019759 epispadias ordo_clinical_subtype MONDO:0020733 proximal symphalangism 1A biolink:Disease mondo UMLS:C3714899|OMIM:185800 http://identifiers.org/omim/185800|UMLS:C3714899 http://purl.obolibrary.org/obo/MONDO_0020733 Sym1|symphalangism, proximal, type 1A|SYM1A|symphalangism, proximal, 1A|Cushing symphalangism|symphalangism, proximal, 1A; SYM1A|hereditary absence of the proximal interphalangeal joints MONDO:0019758 midline interhemispheric variant of holoprosencephaly biolink:Disease mondo Orphanet:93926|UMLS:CN206692|ICD10:Q04.2 Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter. UMLS:CN206692|ORPHA:93926 http://purl.obolibrary.org/obo/MONDO_0019758 Syntelencephaly|middle interhemispheric variant of holoprosencephaly|MIH|MIHF|MIHV|middle interhemispheric fusion variant|MIH type HPE ordo_clinical_subtype MONDO:0020732 progeria biolink:Disease mondo OMIMPS:176670 http://purl.obolibrary.org/obo/MONDO_0020732 MONDO:0019753 localized Castleman disease biolink:Disease mondo UMLS:C3898582|NCIT:C115200|Orphanet:93685|GARD:0006005|ICD10:D36.0|UMLS:CN206685 Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection. ORPHA:93685|NCIT:C115200|UMLS:C3898582|UMLS:CN206685 http://purl.obolibrary.org/obo/MONDO_0019753 Unicentric angiofollicular ganglionic hyperplasia|Unicentric angiofollicular lymph hyperplasia|localized Castleman disease|Unicentric Castleman disease|localized Angiofollicular lymphoid hyperplasia ordo_clinical_subtype MONDO:0019752 pediatric Castleman disease biolink:Disease mondo ICD10:D36.0|Orphanet:93682|UMLS:CN206684 Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms. ORPHA:93682|UMLS:CN206684 http://purl.obolibrary.org/obo/MONDO_0019752 ordo_clinical_subtype MONDO:0019755 developmental defect during embryogenesis biolink:Disease mondo NCIT:C99267|SCTID:400038003|UMLS:CN206687|ICD9:759.7|Orphanet:93890|UMLS:C1302790 A disease that has its basis in the disruption of embryonic morphogenesis. ORPHA:93890|SNOMEDCT:400038003|UMLS:C1302790|NCIT:C99267|UMLS:CN206687 http://purl.obolibrary.org/obo/MONDO_0019755 malformation syndrome|embryonic morphogenesis disease|rare developmental defect during embryogenesis|developmental defect during embryogenesis|disorder of embryonic morphogenesis|congenital malformation syndrome|disorder of embryonic morphogenesis ordo_group_of_disorders MONDO:0019754 multicentric Castleman disease biolink:Disease mondo url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease|GARD:9644|DOID:0111152|GARD:0009644|NCIT:C27855|UMLS:C1334815|ICD10:D36.0|Orphanet:93686 Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein. NCIT:C27855|ORPHA:93686|UMLS:C1334815|MESH:C537372|DOID:0111152 http://purl.obolibrary.org/obo/MONDO_0019754 multicentric giant lymph node hyperplasia|multicentric Angiofollicular lymphoid hyperplasia|idiopathic multicentric Castleman's disease|MCD|plasmablastic multicentric Castleman disease|PMCD|multicentric plasma cell variant of Castleman's disease|multicentric Castleman's disease ordo_clinical_subtype MONDO:0019751 autoinflammatory syndrome biolink:Disease mondo UMLS:C3890737|MedDRA:10072220|NCIT:C119050|Orphanet:93665|UMLS:C3267073 A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. NCIT:C119050|ORPHA:93665|UMLS:C3267073|UMLS:C3890737|MEDDRA:10072220 http://purl.obolibrary.org/obo/MONDO_0019751 ordo_group_of_disorders MONDO:0019750 obsolete rare renal disease biolink:Disease mondo UMLS:CN206681|Orphanet:93626 Any of the forms of urinary system disease that have a rare incidence. ORPHA:93626|UMLS:CN206681 http://purl.obolibrary.org/obo/MONDO_0019750 rare kidney disease|rare urinary system disease obsoletion_candidate|ordo_group_of_disorders MONDO:0005119 anthrax infection biolink:Disease mondo DOID:7427|ICD10:A22|ICD9:022.9|MESH:D000881|ICD10:A22.9|GARD:0008157|EFO:0000778|ICD9:022.8|UMLS:C0003175|SCTID:409498004|ICD9:022|NCIT:C84565 An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers. NCIT:C84565|UMLS:C0003175|DOID:7427|SNOMEDCT:409498004|MESH:D000881 http://purl.obolibrary.org/obo/MONDO_0005119 anthrax|anthrax disease|Bacillus anthracis disease or disorder|Bacillus anthracis infectious disease|Bacillus anthracis caused disease or disorder MONDO:0005116 Whipple disease biolink:Disease mondo UMLS:CN204440|UMLS:C2930851|MedDRA:10047931|MESH:D008061|EFO:0000775|GARD:0007889|DOID:8476|SCTID:41545003|ICD10:M14.8*|ICD9:040.2|COHD:197782|ICD10:K90.81|UMLS:C0023788|ICD10:K90.8+|NCIT:C85228|Orphanet:3452 A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. UMLS:C0023788|UMLS:CN204440|DOID:8476|ORPHA:3452|UMLS:C2930851|SNOMEDCT:41545003|MESH:C531849|MESH:D008061|MEDDRA:10047931|NCIT:C85228 http://purl.obolibrary.org/obo/MONDO_0005116 Tropheryma whipplei disease or disorder|intestinal lipodystrophy|Whipple disease|Whipple's disease|secondary non-tropical sprue|Tropheryma whipplei infectious disease|Tropheryma whippelii infection|Tropheryma whipplei caused disease or disorder|intestinal lipophagic granulomatosis ordo_disease MONDO:0007779 autosomal dominant Opitz G/BBB syndrome biolink:Disease mondo OMIM:145410|ICD10:Q87.8|Orphanet:306588 Autosomal dominant form of Opitz G/BBB syndrome. http://identifiers.org/omim/145410|ORPHA:306588 http://purl.obolibrary.org/obo/MONDO_0007779 GBBB syndrome|autosomal dominant Opitz BBB/G syndrome|Opitz GBBB syndrome, type 2|hypertelorism with esophageal Abnormality and hypospadias|Opitz GBBB syndrome, type II; GBBB2|Opitz G/BBB syndrome, autosomal dominant|hypertelorism-hypospadias syndrome|chromosome 22Q11.2 deletion syndrome, Opitz phenotype|Opitz-Frias syndrome|hypospadias-dysphagia syndrome|autosomal dominant Opitz syndrome|BBB syndrome|GBBB2|Opitz oculogenitolaryngeal syndrome, type 2|telecanthus with associated abnormalities|ADOS|telecanthus-hypospadias syndrome|Opitz GBBB syndrome, autosomal dominant|G syndrome|Opitz Bbbg syndrome|Opitz-G syndrome, type 2|Opitz GBBB syndrome, type II ordo_etiological_subtype MONDO:0005115 temporal lobe epilepsy biolink:Disease mondo MESH:D004833|EFO:0000773|UMLS:C0014556|SCTID:193000002|OMIMPS:600512|NIFSTD:birnlex_12733|DOID:3328 A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321) MESH:D004833|UMLS:C0014556|SNOMEDCT:193000002|DOID:3328 http://purl.obolibrary.org/obo/MONDO_0005115 epilepsy, temporal lobe|temporal lobe epilepsy|epilepsy, familial temporal lobe|epilepsy of temporal lobe MONDO:0007777 hypertaurinuric cardiomyopathy biolink:Disease mondo UMLS:C1840385|MESH:C564157|OMIM:145350 http://identifiers.org/omim/145350|MESH:C564157|UMLS:C1840385 http://purl.obolibrary.org/obo/MONDO_0007777 hypertaurinuric cardiomyopathy MONDO:0005118 human granulocytic ehrlichiosis biolink:Disease mondo DOID:0050025|GARD:0000071|EFO:0000777|SCTID:85708001|ICD9:082.49 A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex. SNOMEDCT:85708001|DOID:0050025 http://purl.obolibrary.org/obo/MONDO_0005118 human granulocytic ehrlichiosis|HGE|infection by Anaplasma phagocytophilum|human anaplasmosis due to Anaplasma phagocytophilum|human ehrlichial infection, human granulocytic type|human anaplasmosis caused by Anaplasma phagocytophilum|human granulocytic anaplasmosis gard_rare MONDO:0007778 obsolete hypertelorism (disease) biolink:Disease mondo SCTID:22006008|OMIM:145400|MESH:D006972|ICD9:376.41|HP:0000316|NCIT:C34715 A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism). MESH:D006972|http://identifiers.org/omim/145400|SNOMEDCT:22006008|NCIT:C34715 http://purl.obolibrary.org/obo/MONDO_0007778 hypertelorism of orbit|hypertelorism MONDO:0005117 Aeromonas hydrophila infectious disease biolink:Disease mondo EFO:0000776 Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria. http://purl.obolibrary.org/obo/MONDO_0005117 Aeromonas hydrophila caused disease or disorder|Aeromonas hydrophila disease or disorder MONDO:0020731 arbovirus infection biolink:Disease mondo SCTID:40610006|NCIT:C34396|EFO:1001269|UMLS:C0003723|MESH:D001102 A viral infection that is transmitted by an arthropod. SNOMEDCT:40610006|UMLS:C0003723|MESH:D001102|NCIT:C34396 http://purl.obolibrary.org/obo/MONDO_0020731 ARBOVIRUS INFECT|Arbovirus Infection|Arbovirus infection|Arbovirus Infections|Arthropod-borne viral infection|arbovirus infection|Infections, Arbovirus|arthropod-borne viral infection|Infection, Arbovirus|Arboviral disease|Arthropod-Borne Viral Infection MONDO:0007775 hypersecretion of adrenal androgens, familial biolink:Disease mondo UMLS:C1840387|GARD:0009593|MESH:C536845|OMIM:145295 MESH:C536845|UMLS:C1840387|http://identifiers.org/omim/145295 http://purl.obolibrary.org/obo/MONDO_0007775 hypersecretion of adrenal androgens, familial|familial hypersecretion of adrenal androgens gard_rare MONDO:0005112 malignant pleural mesothelioma biolink:Disease mondo ICD10:C45.0|SCTID:254645002|UMLS:C0812413|EFO:0000770|DOID:7474|NCIT:C7376|COHD:4111917 A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive. DOID:7474|UMLS:C0812413|NCIT:C7376|SNOMEDCT:254645002 http://purl.obolibrary.org/obo/MONDO_0005112 malignant pleural mesothelioma|pleural malignant mesothelioma|pleural diffuse malignant mesothelioma|malignant mesothelioma of pleura|pleura mesothelioma|malignant mesothelioma of the pleura MONDO:0020730 carpal tunnel syndrome 1 biolink:Disease mondo OMIM:115430 http://identifiers.org/omim/115430 http://purl.obolibrary.org/obo/MONDO_0020730 CTS1|carpal tunnel syndrome|carpal tunnel syndrome; CTS1|CTS|amyotrophy, thenar, of carpal origin MONDO:0005111 Epstein-Barr virus infection biolink:Disease mondo EFO:0000769|UMLS:C0149678|NCIT:C38759|MESH:D020031 An infection that is caused by Epstein-Barr virus. MESH:D020031|UMLS:C0149678|NCIT:C38759 http://purl.obolibrary.org/obo/MONDO_0005111 Epstein Barr Virus infections|Herpesvirus 4 infections, Human|infections, Epstein-Barr Virus|Epstein-Barr Virus infection|Human gammaherpesvirus 4 infectious disease|EBV infection|Human Herpesvirus 4 infections|Human gammaherpesvirus 4 caused disease or disorder|Human gammaherpesvirus 4 disease or disorder|EBV infections|infections, EBV|Virus infections, Epstein-Barr|Human Herpes Virus 4 infections NCBITaxon:44556 Phlebotomus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_44556 Phlebotomus MONDO:0007776 hypersensitivity pneumonitis, familial biolink:Disease mondo OMIM:145300|UMLS:C1840386|MESH:C536846 An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome. http://identifiers.org/omim/145300|MESH:C536846|UMLS:C1840386 http://purl.obolibrary.org/obo/MONDO_0007776 hypersensitivity pneumonitis, familial|hereditary hypersensitivity pneumonitis MONDO:0005114 pneumococcal infection biolink:Disease mondo SCTID:16814004|UMLS:C0032269|ICD9:041.2|EFO:0000772|MESH:D011008 Infections with bacteria of the species streptococcus pneumoniae. UMLS:C0032269|SNOMEDCT:16814004|MESH:D011008 http://purl.obolibrary.org/obo/MONDO_0005114 pneumoniae infections, Streptococcus|infections, pneumococcal|pneumoniae infection, Streptococcus|Streptococcus pneumoniae disease or disorder|Streptococcus pneumoniae infectious disease|Streptococcus pneumoniae caused disease or disorder|infection, Streptococcus pneumoniae|Streptococcus pneumoniae infections|infections, Streptococcus pneumoniae|Streptococcus pneumoniae infection|pneumococcal infection|infection, pneumococcal MONDO:0007773 hyperproglucagonemia biolink:Disease mondo MESH:C564159|UMLS:C1840388|OMIM:145270 MESH:C564159|UMLS:C1840388|http://identifiers.org/omim/145270 http://purl.obolibrary.org/obo/MONDO_0007773 glucagon, large molecular weight species of|hyperproglucagonemia MONDO:0005113 bacterial infectious disease biolink:Disease mondo ICD9:040.89|ICD9:041.89|MESH:D001424|ICD10:A49|UMLS:C0004623|ICD10:A49.9|NCIT:C2890|SCTID:87628006|COHD:432545|EFO:0000771|ICD9:041.9|DOID:104 An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. UMLS:C0004623|SNOMEDCT:87628006|NCIT:C2890|DOID:104|MESH:D001424 http://purl.obolibrary.org/obo/MONDO_0005113 bacterial disorder|infections, bacterial|infection, bacterial|Bacteria infectious disease|bacterial infectious disease|Bacteria caused disease or disorder|bacterial disease|Bacteria disease or disorder|bacterial infection MONDO:0007774 hyperreflexia (disease) biolink:Disease mondo MESH:D012021|HP:0001347|OMIM:145290 An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. MESH:D012021|http://identifiers.org/omim/145290 http://purl.obolibrary.org/obo/MONDO_0007774 hyperreflexia; HRX|hyperreflexia|HRX MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive biolink:Disease mondo UMLS:C1835039|OMIM:145250 UMLS:C1835039|http://identifiers.org/omim/145250 http://purl.obolibrary.org/obo/MONDO_0007771 melanosis universalis hereditaria|hyperpigmentation with or without hypopigmentation, familial progressive; FPHH|hyperpigmentation with or without hypopigmentation, familial progressive|hyperpigmentation, familial progressive, 2|FPHH|macules, hereditary congenital hypopigmented and hyperpigmented|melanosis, universal|hyperpigmentation, familial progressive, 2, formerly NCBITaxon:1570301 Saccotheciaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1570301 Saccotheciei|Aureobasidiaceae MONDO:0007772 pseudohypoaldosteronism type 2A biolink:Disease mondo Orphanet:88938|UMLS:C1840389|OMIM:145260|ICD10:I15.1|SCTID:703254001 SNOMEDCT:703254001|ORPHA:88938|UMLS:C1840389|http://identifiers.org/omim/145260 http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism, type IIA|hyperpotassemia and hypertension, familial|hypertensive hyperkalemia, familial|PHA2A|pseudohypoaldosteronism, type IIA; PHA2A|Gordon hyperkalemia-hypertension syndrome ordo_etiological_subtype MONDO:0005110 idiopathic cardiomyopathy biolink:Disease mondo EFO:0000767|NCIT:C53654 A disease of the heart muscle or myocardium proper whose cause is unknown. NCIT:C53654 http://purl.obolibrary.org/obo/MONDO_0005110 MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers biolink:Disease mondo OMIM:145200|UMLS:C1840393|MESH:C564164 MESH:C564164|http://identifiers.org/omim/145200|UMLS:C1840393 http://purl.obolibrary.org/obo/MONDO_0007770 hyperpigmentation of Fuldauer and Kuijpers MONDO:0020728 hypouricemia, renal 1 biolink:Disease mondo UMLS:C0473219|OMIM:220150 http://identifiers.org/omim/220150|UMLS:C0473219 http://purl.obolibrary.org/obo/MONDO_0020728 renal hypouricemia|hypouricemia, renal, type 1|hypouricemia, renal, 1|RHUC1|hypouricemia, renal, 1; RHUC1|Dalmatian hypouricemia PATO:0002098 neoplastic, metastatic biolink:OntologyClass mondo A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues. http://purl.obolibrary.org/obo/PATO_0002098 HP:0002047 Malignant hyperthermia biolink:PhenotypicFeature mondo SNOMEDCT_US:213026003|MSH:D008305|SNOMEDCT_US:405501007|UMLS:C0024591 Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. http://purl.obolibrary.org/obo/HP_0002047 Malignant hyperthermia with anesthesia MONDO:0019749 obsolete rare renal tumor biolink:Disease mondo Orphanet:93619 Any of the forms of kidney neoplasm that have a rare incidence. ORPHA:93619 http://purl.obolibrary.org/obo/MONDO_0019749 rare kidney neoplasm ordo_group_of_disorders|obsoletion_candidate MONDO:0020727 combined oxidative phosphorylation deficiency 22 biolink:Disease mondo OMIM:616045 http://identifiers.org/omim/616045 http://purl.obolibrary.org/obo/MONDO_0020727 combined oxidative phosphorylation deficiency 22; COXPD22|combined oxidative phosphorylation deficiency type 22|combined oxidative phosphorylation deficiency 22|COXPD22 n_of_one MONDO:0020726 medullary cystic kidney disease 1 biolink:Disease mondo GARD:0007002|Orphanet:88949|OMIM:174000|UMLS:C1868139|ICD10:Q61.5|NCIT:C123171|UMLS:CN206321 An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. NCIT:C123171|ORPHA:88949|UMLS:C1868139|UMLS:CN206321|http://identifiers.org/omim/174000 http://purl.obolibrary.org/obo/MONDO_0020726 ADTKD-MUC1|medullary cystic kidney disease 1|polycystic kidneys, medullary type|autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1|MUC1-related autosomal dominant tubulointerstitial kidney disease|medullary cystic kidney disease, autosomal dominant|MCKD1|Mckd|ADMCKD1|medullary cystic kidney disease type 1|medullary cystic kidney disease 1; MCKD1|MUCI-related ADTKD|autosomal dominant medullary cystic kidney disease without hyperuricemia|MUC1-related autosomal dominant medullary cystic kidney disease ordo_clinical_subtype PATO:0002096 neoplastic, non-malignant biolink:OntologyClass mondo A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize. http://purl.obolibrary.org/obo/PATO_0002096 benign MONDO:0020725 anemia due to chronic disorder biolink:Disease mondo UMLS:C0002873|NCIT:C35659|ICD9:285.29|SCTID:234347009 Anemia due to a disorder that is persistent or long-standing in nature. UMLS:C0002873|NCIT:C35659|SNOMEDCT:234347009 http://purl.obolibrary.org/obo/MONDO_0020725 anemia due to chronic disorder|anemia of chronic illness|anemia of chronic disorder|anemia of chronic inflammation|anemia of chronic disease|anemia of chronic disease|anemia of systemic disease|anemia due to Chronic Disorder|Secondary anemia PATO:0002097 neoplastic, malignant biolink:OntologyClass mondo A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. http://purl.obolibrary.org/obo/PATO_0002097 MONDO:0020724 familial cerebral cavernous malformation 1 biolink:Disease mondo OMIM:116860 http://identifiers.org/omim/116860 http://purl.obolibrary.org/obo/MONDO_0020724 cerebral cavernous malformations 1|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cerebral capillary malformations|cavernous angiomatous malformations|cavernous angioma, familial|cerebral cavernous malformations; CCM|CCM|cerebral cavernous malformations|cavernous malformations of CNS and retina MONDO:0019746 cystinuria type B biolink:Disease mondo Orphanet:93613|UMLS:C1857389|ICD10:E72.0 ORPHA:93613|UMLS:C1857389 http://purl.obolibrary.org/obo/MONDO_0019746 ordo_etiological_subtype MONDO:0020723 vitamin D-dependent rickets, type 1A biolink:Disease mondo OMIM:264700|UMLS:C0268689 UMLS:C0268689|http://identifiers.org/omim/264700 http://purl.obolibrary.org/obo/MONDO_0020723 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective|vitamin D-dependent rickets, type 1A|vitamin D dependency, type 1|vitamin D hydroxylation-deficient rickets, type 1A|25-hydroxycholecalciferol-1-Hydroxylase deficiency|pseudovitamin D-deficiency rickets, type 1A|VDDR1A|PDDR 1A|1-Alpha-Hydroxylase deficiency|vitamin D hydroxylation-deficient rickets, type 1A; VDDR1A MONDO:0019745 cystinuria type A biolink:Disease mondo Orphanet:93612|ICD10:E72.0|MESH:C565652 ORPHA:93612|MESH:C565652 http://purl.obolibrary.org/obo/MONDO_0019745 ordo_etiological_subtype MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 biolink:Disease mondo UMLS:C1833683|OMIM:167030 http://identifiers.org/omim/167030|UMLS:C1833683 http://purl.obolibrary.org/obo/MONDO_0020722 urolithiasis, calcium oxalate|CAON|nephrolithiasis, calcium oxalate|nephrolithiasis, calcium oxalate; CAON MONDO:0019748 rare cause of hypertension biolink:Disease mondo UMLS:CN227685|Orphanet:93618 ORPHA:93618|UMLS:CN227685 http://purl.obolibrary.org/obo/MONDO_0019748 ordo_group_of_disorders|obsoletion_candidate MONDO:0019747 hematological disorder with renal involvement biolink:Disease mondo UMLS:CN227684|Orphanet:93614 ORPHA:93614|UMLS:CN227684 http://purl.obolibrary.org/obo/MONDO_0019747 ordo_group_of_disorders MONDO:0020721 X-linked sideroblastic anemia 1 biolink:Disease mondo GARD:0009456|Orphanet:75563|OMIM:300751|MESH:C536761|UMLS:C0221018|SCTID:62677000|ICD10:D64.0|DOID:0060063 http://identifiers.org/omim/300751|ORPHA:75563|MESH:C536761|UMLS:C0221018|DOID:0060063|SNOMEDCT:62677000 http://purl.obolibrary.org/obo/MONDO_0020721 anemia sex-linked hypochromic sideroblastic|anemia, sideroblastic, 1|hereditary iron-loading Anemia|SIDBA1|anemia, sideroblastic, X-linked|anemia, sideroblastic, 1; SIDBA1|sideroblastic anemia X-linked|anemia, hereditary sideroblastic|anemia, sideroblastic, X-linked; XLSA|sideroblastic anemia, X-linked|XLSA|anemia, hypochromic|anemia hereditary sideroblastic|ANH1|X-linked sideroblastic anemia|X chromosome-linked sideroblastic anemia|erythroid 5-aminolevulinate synthase deficiency ordo_disease MONDO:0019742 late-onset nephronophthisis biolink:Disease mondo Orphanet:93589|ICD10:Q61.5 ORPHA:93589 http://purl.obolibrary.org/obo/MONDO_0019742 ordo_clinical_subtype MONDO:0019741 familial cystic renal disease biolink:Disease mondo Orphanet:93587|UMLS:CN206655 An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. ORPHA:93587|UMLS:CN206655 http://purl.obolibrary.org/obo/MONDO_0019741 hereditary cystic kidney disease ordo_group_of_disorders MONDO:0019744 rare renal tubular disease biolink:Disease mondo Orphanet:93603 Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction. ORPHA:93603 http://purl.obolibrary.org/obo/MONDO_0019744 disease of renal tubule|renal tubule disease ordo_group_of_disorders|obsoletion_candidate MONDO:0019743 nephropathy secondary to a storage or other metabolic disease biolink:Disease mondo UMLS:CN206659|Orphanet:93593 UMLS:CN206659|ORPHA:93593 http://purl.obolibrary.org/obo/MONDO_0019743 ordo_group_of_disorders PATO:0002094 basophilic biolink:OntologyClass mondo An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific ph conditions. http://purl.obolibrary.org/obo/PATO_0002094 MONDO:0019740 acquired thrombotic thrombocytopenic purpura biolink:Disease mondo SCTID:438476003|NCIT:C131653|GARD:0004607|MESH:C536901|Orphanet:93585|UMLS:C2584778|ICD10:M31.3|UMLS:C2584777 Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. ORPHA:93585|UMLS:C2584777|UMLS:C2584778|MESH:C536901|NCIT:C131653|SNOMEDCT:438476003 http://purl.obolibrary.org/obo/MONDO_0019740 TTP|idiopathic thrombotic thrombocytopenic purpura|autoimmune thrombotic thrombocytopenic purpura|Moschowitz syndrome|acquired thrombotic thrombocytopenic purpura|acquired ADAMTS13 deficiency|purpura, thrombotic thrombocytopenic|acquired TTP ordo_clinical_subtype|gard_rare PATO:0002092 anaplastic biolink:OntologyClass mondo A morphology quality inhering in a neoplastic cell by virtue of the bearer's exhibiting breakdown of cell-cell interaction maintaining tissue architecture, proliferative dysregulation and bizarre modification to nucleus size and shape. http://purl.obolibrary.org/obo/PATO_0002092 MONDO:0020729 autosomal recessive agammaglobulinemia 1 biolink:Disease mondo OMIM:601495 http://identifiers.org/omim/601495 http://purl.obolibrary.org/obo/MONDO_0020729 agammaglobulinemia 1, autosomal recessive|agammaglobulinemia, autosomal recessive, due to IGHM defect|AGM1|agammaglobulinemia 1, autosomal recessive; AGM1 HGNC:2708 DCR biolink:OntologyClass mondo http://identifiers.org/hgnc/2708 HGNC:2707 ACE biolink:OntologyClass mondo http://identifiers.org/hgnc/2707 GO:0007517 muscle organ development biolink:OntologyClass mondo The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. http://purl.obolibrary.org/obo/GO_0007517 HGNC:2705 DCN biolink:OntologyClass mondo http://identifiers.org/hgnc/2705 UBERON:0004538 left kidney biolink:AnatomicalEntity mondo A kidney that is part of a left side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004538 HGNC:2701 DCC biolink:OntologyClass mondo http://identifiers.org/hgnc/2701 UBERON:0004539 right kidney biolink:AnatomicalEntity mondo A kidney that is part of a right side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004539 UBERON:0016525 frontal lobe biolink:AnatomicalEntity mondo Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border. http://purl.obolibrary.org/obo/UBERON_0016525 frontal region|frontal cortex|regio frontalis|lobi frontales|lobus frontalis UBERON:0016527 white matter of cerebral lobe biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0016527 UBERON:0016526 lobe of cerebral hemisphere biolink:AnatomicalEntity mondo Subdivision of telencephalon which is one of a number of subdivisions of each hemisphere separated by both real landmarks (sulci and fissures) and arbitrary boundaries[FMA,modified]. http://purl.obolibrary.org/obo/UBERON_0016526 cerebral lobe|lobe of cerebral cortex|lobe parts of cerebral cortex|cerebral cortical segment|segment of cerebral cortex|regional organ part of cerebral cortex|cerebral hemisphere lobe|lobi cerebri|lobes of the brain UBERON:0016520 epithelium of female urethra biolink:AnatomicalEntity mondo A epithelium that is part of a female urethra. http://purl.obolibrary.org/obo/UBERON_0016520 female urethral epithelium|urethral epithelium of female UBERON:0016522 cavity of right atrium biolink:AnatomicalEntity mondo luminal space of the right atrium of the heart. http://purl.obolibrary.org/obo/UBERON_0016522 right atrial cavity CHEBI:33595 cyclic compound biolink:ChemicalSubstance mondo Any molecule that consists of a series of atoms joined together to form a ring. http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compounds CHEBI:33597 homocyclic compound biolink:ChemicalSubstance mondo A cyclic compound having as ring members atoms of the same element only. http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound|isocyclic compounds|homocyclic compounds CHEBI:33598 carbocyclic compound biolink:ChemicalSubstance mondo A homocyclic compound in which all of the ring members are carbon atoms. http://purl.obolibrary.org/obo/CHEBI_33598 carbocyclic compounds|carbocyclic compound|carbocycle UBERON:0016517 lumen of jejunum biolink:AnatomicalEntity mondo A anatomical space that is part of a jejunum. http://purl.obolibrary.org/obo/UBERON_0016517 jejunal lumen|jejunum lumen HGNC:2711 DCTN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2711 UBERON:0004548 left eye biolink:AnatomicalEntity mondo An eye that is part of a left side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004548 left eyeball|left orbital part of face|left orbital region UBERON:0004544 epididymis epithelium biolink:AnatomicalEntity mondo the layer of secretory cells which lines the epididymis http://purl.obolibrary.org/obo/UBERON_0004544 epithelium of epididymis|epididymis epithelium HGNC:2719 DDC biolink:OntologyClass mondo http://identifiers.org/hgnc/2719 HGNC:2718 DDB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2718 UBERON:0004529 anatomical projection biolink:AnatomicalEntity mondo A projection or outgrowth of tissue from a larger body or organ. http://purl.obolibrary.org/obo/UBERON_0004529 shelves|ridges|spine|processus|papilla|protrusion|lamella|lamina|projections|flanges|anatomical protrusion|lamellae|laminae|anatomical process|flange|organ process|projection|process|processes|ridge|shelf|projection|process of organ HGNC:2714 DCX biolink:OntologyClass mondo http://identifiers.org/hgnc/2714 UBERON:0004527 alveolar process of maxilla biolink:AnatomicalEntity mondo The thickened ridge of bone that contains the tooth sockets on the maxilla. http://purl.obolibrary.org/obo/UBERON_0004527 alveolar margin of maxilla|alveolar process of maxilla|maxilla alveolar process|processus alveolaris (maxilla)|pars dentalis of maxilla|alveolar part of maxilla|posterior alveolar ridge|processus alveolaris maxillae|lower alveolar ridge|alveolar ridge of maxilla UBERON:0004528 alveolar ridge of mandible biolink:AnatomicalEntity mondo The thickened ridge of bone that contains the tooth sockets on the mandible. http://purl.obolibrary.org/obo/UBERON_0004528 alveolar process of mandible|anterior alveolar ridge|alveolar margin of mandible|pars alveolaris (mandibula)|pars alveolaris mandibulae|upper alveolar ridge|alveolar part of mandible|alveolar arch of mandible UBERON:0016514 cavity of left ventricle biolink:AnatomicalEntity mondo luminal space of the left ventricle of the heart. http://purl.obolibrary.org/obo/UBERON_0016514 left ventricular cavity UBERON:0016513 cavity of left atrium biolink:AnatomicalEntity mondo luminal space of the left atrium of the heart. http://purl.obolibrary.org/obo/UBERON_0016513 left atrium lumen|left atrial cavity UBERON:0016516 lamina propria of prostatic urethra biolink:AnatomicalEntity mondo A lamina propria that is part of a prostatic urethra. http://purl.obolibrary.org/obo/UBERON_0016516 lamina propria of prostatic part of urethra|lamina propria of prostatic urethra UBERON:0016515 muscular layer of prostatic urethra biolink:AnatomicalEntity mondo A muscular coat that is part of a prostatic urethra. http://purl.obolibrary.org/obo/UBERON_0016515 muscle layer of prostatic urethra|muscle layer of prostatic part of urethra|muscular coat of prostatic urethra PATO:0002039 biconcave biolink:OntologyClass mondo A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. http://purl.obolibrary.org/obo/PATO_0002039 UBERON:0016510 epithelium of male urethra biolink:AnatomicalEntity mondo A epithelium that is part of a male urethra. http://purl.obolibrary.org/obo/UBERON_0016510 male urethral epithelium|urethral epithelium of male UBERON:0016512 lumen of duodenum biolink:AnatomicalEntity mondo A anatomical space that is part of a duodenum. http://purl.obolibrary.org/obo/UBERON_0016512 duodenal lumen|doudenal lumen UBERON:0016511 lamina propria of fundus of stomach biolink:AnatomicalEntity mondo A lamina propria that is part of a mucosa of fundus of stomach. http://purl.obolibrary.org/obo/UBERON_0016511 lamina propria mucosae of fundus of stomach UBERON:0016509 cavity of right ventricle biolink:AnatomicalEntity mondo Luminal space of the right ventricle of the heart. http://purl.obolibrary.org/obo/UBERON_0016509 right ventricular cavity|right ventricle lumen UBERON:0004536 lymph vasculature biolink:AnatomicalEntity mondo A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep. http://purl.obolibrary.org/obo/UBERON_0004536 lymphatic vasculature|set of lymphatic vessels|trunci et ductus lymphatici|lymphatic vessels set|lymphatic trunks and ducts|lymph vessels|lymphatic vessel network UBERON:0004537 blood vasculature biolink:AnatomicalEntity mondo A vascular network consisting of blood vessels. http://purl.obolibrary.org/obo/UBERON_0004537 blood vascular network|blood vessels|blood system|blood vessel system|set of blood vessels UBERON:0004534 right testis biolink:AnatomicalEntity mondo A testis that is in the right side of the genitalia [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004534 right testicle UBERON:0004535 cardiovascular system biolink:AnatomicalEntity mondo Anatomical system that has as its parts the heart and blood vessels. http://purl.obolibrary.org/obo/UBERON_0004535 CV system|Herz und Gefaesssystem UBERON:0004533 left testis biolink:AnatomicalEntity mondo A testis that is in the left side of the genitalia [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004533 left testicle UBERON:0004530 bony projection biolink:AnatomicalEntity mondo Anatomical projection that is composed of bone tissue. http://purl.obolibrary.org/obo/UBERON_0004530 bony projections|bone process|projection of bone HGNC:2728 DDOST biolink:OntologyClass mondo http://identifiers.org/hgnc/2728 UBERON:0004518 muscle of vertebral column biolink:AnatomicalEntity mondo A muscle that is attached to a vertebra of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0004518 vertebral column muscle HGNC:2726 DDIT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2726 UBERON:0004516 smooth muscle tissue of terminal bronchiole biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a terminal bronchiole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004516 UBERON:0004517 smooth muscle tissue of respiratory bronchiole biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a respiratory bronchiole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004517 UBERON:0016502 stomach fundus lumen biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a fundus of stomach. http://purl.obolibrary.org/obo/UBERON_0016502 cavity of fundus of stomach|lumen of fundus of stomach|lumen of stomach fundus NCBITaxon:188550 Raphignathae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_188550 CHEBI:33575 carboxylic acid biolink:ChemicalSubstance mondo A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. http://purl.obolibrary.org/obo/CHEBI_33575 Carbonsaeuren|carboxylic acids|Carbonsaeure|acido carboxilico|carboxylic acid|acides carboxyliques|acide carboxylique|RC(=O)OH|acidos carboxilicos|Karbonsaeure CHEBI:33579 main group molecular entity biolink:ChemicalSubstance mondo A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. http://purl.obolibrary.org/obo/CHEBI_33579 main group compounds|main group molecular entities HGNC:2731 DDR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2731 UBERON:0004521 vasculature of muscle organ biolink:AnatomicalEntity mondo A vasculature that is part of a muscle organ [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004521 muscular organ vasculature UBERON:0004522 vasculature of musculoskeletal system biolink:AnatomicalEntity mondo A vasculature that is part of a musculoskeletal system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004522 UBERON:0004520 striated muscle tissue of prostate biolink:AnatomicalEntity mondo A portion of striated muscle tissue that is part of a prostate gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004520 GO:0007507 heart development biolink:OntologyClass mondo The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/GO_0007507 cardiac development|dorsal vessel development ENVO:00005748 dry soil biolink:OntologyClass mondo Soil which has little to no water content and in which minerals and other soluble chemical entities have either bonded or become adsorbed to sold particles due to insufficient water availability. http://purl.obolibrary.org/obo/ENVO_00005748 HGNC:2736 DDX11 biolink:OntologyClass mondo http://identifiers.org/hgnc/2736 UBERON:0004508 skeletal muscle tissue of levator palpebrae superioris biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of a levator palpebrae superioris [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004508 CHEBI:33583 noble gas molecular entity biolink:ChemicalSubstance mondo A main group molecular entity containing one or more atoms of any noble gas. http://purl.obolibrary.org/obo/CHEBI_33583 noble gas molecular entities|noble gas compounds|noble gas molecular entity NCBITaxon:188543 Demodicidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_188543 follicle mites NCBITaxon:188544 Demodex organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_188544 UBERON:0004515 smooth muscle tissue of bronchiole biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a bronchiole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004515 smooth muscle tissue of lobular bronchiole NCBITaxon:188547 Cheyletoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_188547 CHEBI:33582 carbon group molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity|carbon group molecular entities MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome biolink:Disease mondo GARD:0008524|SCTID:234140000|UMLS:C0472694|ICD10:D18.0|Orphanet:2124|OMIM:140850|MESH:C538144 MESH:C538144|ORPHA:2124|http://identifiers.org/omim/140850|SNOMEDCT:234140000|UMLS:C0472694 http://purl.obolibrary.org/obo/MONDO_0007706 hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe|sternal nonunion with supraumbilical raphe|supraumbilical midabdominal raphe and facial cavernous hemangiomas|hemangiomas cavernous of face supraumbilical midline raphe|raphe, supraumbilical Midline, with cavernous Facial hemangiomas ordo_malformation_syndrome MONDO:0007707 hemangiomas of small intestine biolink:Disease mondo MESH:C564201|OMIM:140900|UMLS:C1841654 A hemangioma that involves the small intestine. MESH:C564201|http://identifiers.org/omim/140900|UMLS:C1841654 http://purl.obolibrary.org/obo/MONDO_0007707 hemangiomas of small intestine|hemangioma of small intestine|small intestine hemangioma MONDO:0007704 osteoarthritis susceptibility 2 biolink:Disease mondo OMIM:140600 http://identifiers.org/omim/140600 http://purl.obolibrary.org/obo/MONDO_0007704 osteoarthritis caused by mutation in MATN3|hand osteoarthritis|OS2|osteoarthritis susceptibility 2|osteoarthritis susceptibility 2; OS2|MATN3 osteoarthritis|OADIP|osteoarthritis of distal interphalangeal joints|osteoarthritis susceptibility type 2|Dipoa|Heberden nodes predisposition MONDO:0007705 Heinz body anemia biolink:Disease mondo MedDRA:10002058|OMIM:140700|ICD10:D58.2|MESH:C563030|GARD:0010718|HP:0005511|UMLS:C0700299|Orphanet:178330 UMLS:C0700299|ORPHA:178330|http://identifiers.org/omim/140700|MESH:C563030|MEDDRA:10002058 http://purl.obolibrary.org/obo/MONDO_0007705 Heinz body anemias ordo_disease MONDO:0007702 heart-hand syndrome type 3 biolink:Disease mondo SCTID:721013001|Orphanet:1342|MESH:C535853|GARD:0002614|OMIM:140450|ICD10:Q87.2|UMLS:C1841657 Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. ORPHA:1342|http://identifiers.org/omim/140450|MESH:C535853|SNOMEDCT:721013001|UMLS:C1841657 http://purl.obolibrary.org/obo/MONDO_0007702 heart-limb syndrome type 3|Cardiomelic syndrome type 3|upper limb malformations and congenital cardiac anomalies|heart-hand syndrome, Spanish type|brachydactyly and intraventricular conduction defect|atriodigital dysplasia type 3 ordo_malformation_syndrome MONDO:0007703 obsolete heart, malformation of biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007703 MONDO:0007700 hawkinsinuria biolink:Disease mondo SCTID:414380008|ICD10:E70.2|GARD:0005668|UMLS:C2931042|Orphanet:2118|OMIM:140350|MESH:C535845 Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. SNOMEDCT:414380008|http://identifiers.org/omim/140350|UMLS:C2931042|MESH:C535845|ORPHA:2118 http://purl.obolibrary.org/obo/MONDO_0007700 4-hydroxyphenylpyruvic acid dioxygenase deficiency|4-HPPD deficiency|4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|hawkinsinuria gard_rare|ordo_disease MONDO:0007701 progressive familial heart block type II biolink:Disease mondo DOID:0111075|GARD:0004879|OMIM:140400|MESH:C564202|ICD9:426.6|SCTID:698251009 DOID:0111075|http://identifiers.org/omim/140400|MESH:C564202|SNOMEDCT:698251009 http://purl.obolibrary.org/obo/MONDO_0007701 PFHBII|progressive familial heart block, type II|progressive familial heart block, type II; PFHB2|heart block progressive familial type 2|progressive familial heart block type 2|PFHB2 gard_rare HGNC:2745 DDX3X biolink:OntologyClass mondo http://identifiers.org/hgnc/2745 CHEBI:33558 alpha-amino-acid anion biolink:ChemicalSubstance mondo An amino-acid anion obtained by deprotonation of any alpha-amino acid. http://purl.obolibrary.org/obo/CHEBI_33558 alpha-amino-acid anions|alpha-amino-acid anion|alpha-amino acid anions CHEBI:33559 s-block element atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33559 s-block elements|s-block element UBERON:0016565 cerebral blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a cerebellum. http://purl.obolibrary.org/obo/UBERON_0016565 UBERON:0016566 pit biolink:AnatomicalEntity mondo An roughly circular indentation in a surface. http://purl.obolibrary.org/obo/UBERON_0016566 CHEBI:33552 sulfonic acid derivative biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33552 derivatives of sulfonic acid|sulfonic acid derivative|sulfonic acid derivatives UBERON:0004581 systemic venous system biolink:AnatomicalEntity mondo The part of the venous system that drains the general body tissues[Kardong] http://purl.obolibrary.org/obo/UBERON_0004581 systemic venous circulatory system UBERON:0004582 venous system biolink:AnatomicalEntity mondo The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. http://purl.obolibrary.org/obo/UBERON_0004582 vein system MONDO:0007717 hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain biolink:Disease mondo OMIM:142309|UMLS:C1840647 http://identifiers.org/omim/142309|UMLS:C1840647 http://purl.obolibrary.org/obo/MONDO_0007717 HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain UBERON:0016550 spinal cord column biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0016550 MONDO:0007718 hepatic adenomas, familial biolink:Disease mondo MESH:C564190|OMIM:142330|UMLS:C1840646 http://identifiers.org/omim/142330|MESH:C564190|UMLS:C1840646 http://purl.obolibrary.org/obo/MONDO_0007718 hepatic adenomas, familial|liver cell adenomas, familial MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites biolink:Disease mondo UMLS:C1841622|MESH:C564197|OMIM:141700 http://identifiers.org/omim/141700|MESH:C564197|UMLS:C1841622 http://purl.obolibrary.org/obo/MONDO_0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites UBERON:0016552 phlegm biolink:AnatomicalEntity mondo mucus produced in the respiratory tract. http://purl.obolibrary.org/obo/UBERON_0016552 MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 biolink:Disease mondo ICD10:D56.0|Orphanet:98791|ICD9:282.49|DOID:0110029|UMLS:C0475813|UMLS:C0795917|OMIM:141750|MESH:C563050|SCTID:277918006 Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. UMLS:C0795917|SNOMEDCT:277918006|ORPHA:98791|DOID:0110029|http://identifiers.org/omim/141750|MESH:C563050|UMLS:C0475813 http://purl.obolibrary.org/obo/MONDO_0007716 ATR-16 syndrome|alpha-thalassemia/intellectual disability syndrome, deletion-type|ATR syndrome linked to chromosome 16|ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related|Alpha thalassemia-mental retardation syndrome|Alpha-thalassemia/mental retardation syndrome, deletion-type|Hemoglobin H-related intellectual disability|alpha-thalassemia/intellectual disability syndrome, type 1|mental retardation with Hemoglobin H|Hemoglobin H-related mental retardation|alpha-thalassemia-intellectual disability syndrome linked to chromosome 16|alpha-thalassemia/mental retardation syndrome, deletion-type|Alpha thalassemia-intellectual disability syndrome, deletion type|Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16|intellectual disability with Hemoglobin H|alpha thalassemia-retardation syndrome|alpha-thalassemia/mental retardation syndrome, type 1|ATR, deletion-type|ATR syndrome, deletion type|chromosome 16P deletion syndrome|ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related|Alpha thalassemia-intellectual disability syndrome|alpha thalassemia-intellectual disability syndrome, deletion type|Alpha-thalassemia/intellectual disability syndrome, deletion-type ordo_disease UBERON:0016551 subdivision of spinal cord ventral column biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0016551 MONDO:0007713 clonic hemifacial spasm biolink:Disease mondo UMLS:C1841639|OMIM:141405|COHD:4160055|MESH:C564198|UMLS:C3536936|ICD10:G51.3|Orphanet:221083 http://identifiers.org/omim/141405|MESH:C564198|UMLS:C1841639|ORPHA:221083|UMLS:C3536936 http://purl.obolibrary.org/obo/MONDO_0007713 hemifacial spasm|hemifacial spasm, familial|focal myoclonus of face|facial hemispasm ordo_disease MONDO:0007714 obsolete migraine, familial hemiplegic, 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007714 MONDO:0007711 Bencze syndrome biolink:Disease mondo GARD:0002633|ICD10:Q67.4|MESH:C564199|OMIM:141350|SCTID:733046006|Orphanet:1241|UMLS:C1841640 Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. ORPHA:1241|http://identifiers.org/omim/141350|MESH:C564199|SNOMEDCT:733046006|UMLS:C1841640 http://purl.obolibrary.org/obo/MONDO_0007711 hemifacial hyperplasia strabismus|hemifacial hyperplasia-strabismus syndrome|Bencze syndrome|hemifacial hyperplasia with strabismus ordo_malformation_syndrome|gard_rare MONDO:0007712 oculoauriculovertebral spectrum with radial defects biolink:Disease mondo OMIM:141400|SCTID:726722009|GARD:0003653|Orphanet:2549|ICD10:Q75.8 Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. ORPHA:2549|http://identifiers.org/omim/141400|UMLS:C0220681|SNOMEDCT:726722009 http://purl.obolibrary.org/obo/MONDO_0007712 oculoauriculovertebral spectrum with radial defect|Moeschler-Clarren syndrome|Goldenhar syndrome with ipsilateral radial defect|microsomia hemifacial radial defects|hemifacial microsomia-radial defects syndrome|hemifacial microsomia with radial defects|Oavs with radial defect|Moeschler Clarren syndrome ordo_malformation_syndrome MONDO:0007710 facial hemiatrophy biolink:Disease mondo SCTID:718224004|ICD10:G51.8|GARD:0007338|UMLS:C0015458|DOID:1757|NCIT:C116916|OMIM:141300|Orphanet:1214|MESH:D005150 Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. http://identifiers.org/omim/141300|NCIT:C116916|MESH:D005150|SNOMEDCT:718224004|DOID:1757|NCIT:C84703|UMLS:C0015458|ORPHA:1214 http://purl.obolibrary.org/obo/MONDO_0007710 HFA|hemifacial atrophy|parry-Romberg syndrome|hemifacial atrophy, progressive; HFA|progressive hemifacial atrophy|hemifacial atrophy, progressive|PHA|progressive facial hemiatrophy|Romberg syndrome|Romberg hemi-facial atrophy ordo_disease UBERON:0016554 white matter of midbrain biolink:AnatomicalEntity mondo A white matter that is part of the midbrain. http://purl.obolibrary.org/obo/UBERON_0016554 mesencephalic white matter UBERON:0016553 respiratory system mucus biolink:AnatomicalEntity mondo Any mucus produced by a mucosae of the respiratory system. This includes the mucus produced in the nasal cavity (nasal mucus) and mucus produced in the respiratory tract (phlegm). http://purl.obolibrary.org/obo/UBERON_0016553 CHEBI:33561 d-block element atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33561 d-block element|d-block elements UBERON:0004572 arterial system biolink:AnatomicalEntity mondo The part of the cardiovascular system consisting of all arteries. http://purl.obolibrary.org/obo/UBERON_0004572 UBERON:0004573 systemic artery biolink:AnatomicalEntity mondo An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/UBERON_0004573 systemic arterial subtree CHEBI:33563 glycolipid biolink:ChemicalSubstance mondo Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent. http://purl.obolibrary.org/obo/CHEBI_33563 glycolipids|Glycolipid UBERON:0004571 systemic arterial system biolink:AnatomicalEntity mondo The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/UBERON_0004571 systemic arterial circulatory system MONDO:0007708 Kasabach-Merritt syndrome biolink:Disease mondo NCIT:C3821|MedDRA:10058423|GARD:0000070|OMIM:141000|MESH:D059885|SCTID:86635005|Orphanet:2330|ICD10:D18.0|UMLS:C0221025|ICD9:287.39 Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma. NCIT:C3821|ORPHA:2330|http://identifiers.org/omim/141000|UMLS:C0221025|MEDDRA:10058423|SNOMEDCT:86635005|MESH:D059885 http://purl.obolibrary.org/obo/MONDO_0007708 hemangioma-hemorrhage syndrome|hemangioma-thrombocytopenia syndrome|hemangiomatosis with thrombocytopenia|Kasabach Merritt phenomenon|hemangioma thrombocytopenia syndrome|thrombocytopenia-hemangioma syndrome|KMP|thrombopenia-hemangioma syndrome|Kasabach-Merritt syndrome|Kasabach Merritt syndrome ordo_clinical_situation|gard_rare MONDO:0007709 hematuria, benign familial biolink:Disease mondo OMIM:141200|MESH:C562476 http://identifiers.org/omim/141200|MESH:C562476 http://purl.obolibrary.org/obo/MONDO_0007709 thin-basement-membrane nephropathy|thin membrane nephropathy|hematuria, benign familial; BFH|BFH|hematuria, benign familial CHEBI:33560 p-block element atom biolink:ChemicalSubstance mondo Any main group element atom belonging to the p-block of the periodic table. http://purl.obolibrary.org/obo/CHEBI_33560 p-block element|p-block elements UBERON:0016540 occipital cortex biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0016540 cortex of occipital lobe|gray matter of occipital lobe|occipital lobe cortex|occipital neocortex PATO:0002007 convex 3-D shape biolink:OntologyClass mondo A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. http://purl.obolibrary.org/obo/PATO_0002007 UBERON:0016549 central nervous system white matter layer biolink:AnatomicalEntity mondo A layer of of the central nervous system that is composed of white matter. http://purl.obolibrary.org/obo/UBERON_0016549 white matter layer of neuraxis|CNS white matter layer|white matter layer PATO:0002005 concavity biolink:OntologyClass mondo Surface shape that refers to the inward or outward curvature of the surface. http://purl.obolibrary.org/obo/PATO_0002005 UBERON:0016548 central nervous system gray matter layer biolink:AnatomicalEntity mondo A layer of of the central nervous system that is part of gray matter. http://purl.obolibrary.org/obo/UBERON_0016548 CNS gray matter layer|grey matter layer of neuraxis|gray matter layer of neuraxis|CNS grey matter layer|grey matter layer PATO:0002006 2-D shape biolink:OntologyClass mondo A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. http://purl.obolibrary.org/obo/PATO_0002006 2-D projection|cross-sectional UBERON:0016542 limbic cortex biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0016542 cortex of limbic lobe|gray matter of limbic lobe|limbic lobe cortex PATO:0002009 branchiness biolink:OntologyClass mondo A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. http://purl.obolibrary.org/obo/PATO_0002009 UBERON:0016545 pharyngeal ectoderm biolink:AnatomicalEntity mondo The external part of the developing pharynx that is made of ectoderm. During vertebrate development, pockets form in pharyngeal ectoderm between the pharyngeal arches. http://purl.obolibrary.org/obo/UBERON_0016545 CHEBI:57504 L-dopa zwitterion biolink:ChemicalSubstance mondo An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of L-dopa. Major microspecies at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_57504 (2S)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate|L-dopa|(2S)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate HGNC:2771 CFD biolink:OntologyClass mondo http://identifiers.org/hgnc/2771 HGNC:2770 DES biolink:OntologyClass mondo http://identifiers.org/hgnc/2770 UBERON:0016530 parietal cortex biolink:AnatomicalEntity mondo Gray matter of the parietal region of the neocortex, located in the parietal lobe of gyrencephalic animals. It is continuous anteriorly with the frontal cortex, posteriorly with the occipital cortex and medially with the insular cortex and with the temporal cortex on the posterior/inferior border. http://purl.obolibrary.org/obo/UBERON_0016530 parietal lobe cortex|parietal neocortex|cortex of parietal lobe|gray matter of parietal lobe UBERON:0004549 right eye biolink:AnatomicalEntity mondo An eye that is part of a right side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004549 right orbital region|right orbital part of face|right eyeball UBERON:0016536 white matter of limbic lobe biolink:AnatomicalEntity mondo A white matter of cerebral lobe that is part of a limbic lobe. http://purl.obolibrary.org/obo/UBERON_0016536 UBERON:0016535 white matter of occipital lobe biolink:AnatomicalEntity mondo A white matter of cerebral lobe that is part of a occipital lobe. http://purl.obolibrary.org/obo/UBERON_0016535 UBERON:0016538 temporal cortex biolink:AnatomicalEntity mondo Gray matter of the temporal region of the neocortex, located in the temporal lobe in gyrencephalic animals http://purl.obolibrary.org/obo/UBERON_0016538 gray matter of temporal lobe|temporal lobe cortex|temporal neocortex|cortex of temporal lobe UBERON:0016531 white matter of parietal lobe biolink:AnatomicalEntity mondo A white matter of cerebral lobe that is part of a parietal lobe. http://purl.obolibrary.org/obo/UBERON_0016531 UBERON:0016534 white matter of temporal lobe biolink:AnatomicalEntity mondo A white matter of cerebral lobe that is part of a temporal lobe. http://purl.obolibrary.org/obo/UBERON_0016534 UBERON:0004550 gastroesophageal sphincter biolink:AnatomicalEntity mondo the thick circular layer of smooth gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach http://purl.obolibrary.org/obo/UBERON_0004550 cardiac sphincter|gastro-oesophageal junction|esophageal sphincter%2c lower|gastroesophageal sphincter|inferior esophageal sphincter|esophageal-cardiac junction|gastro-esophageal sphincter|esophagogastric junction|gastroesophageal sphincter muscle|esophageal sphincter|lower esophageal sphincter|gastro-esophageal junction|cardiac sphincter|gastroesophageal sphincter|gastroesophageal junction|constrictor cardiae|LES PATO:0002011 neoplastic biolink:OntologyClass mondo A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. http://purl.obolibrary.org/obo/PATO_0002011 tumorous UBERON:0016529 cortex of cerebral lobe biolink:AnatomicalEntity mondo Grey matter neocortex region of a lobe of the cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0016529 gray matter of lobe of cerebral hemisphere|cortex of cerebral hemisphere lobe|neocortical part of cerebral hemisphere|cortex of lobe of cerebral hemisphere PATO:0002014 structure, cavities biolink:OntologyClass mondo A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas. http://purl.obolibrary.org/obo/PATO_0002014 CHEBI:33543 sulfonate biolink:ChemicalSubstance mondo The sulfur oxoanion formed by deprotonation of sulfonic acid. http://purl.obolibrary.org/obo/CHEBI_33543 sulfonates|hydridotrioxidosulfate(1-)|SHO3(-)|[SHO3](-) UBERON:0016528 white matter of frontal lobe biolink:AnatomicalEntity mondo A white matter of cerebral lobe that is part of a frontal lobe. http://purl.obolibrary.org/obo/UBERON_0016528 frontal lobe white matter UBERON:0004554 hindlimb digital artery biolink:AnatomicalEntity mondo A digital artery that is part of a hindlimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004554 hindlimb digital arteries|digital artery of foot UBERON:0004552 digital artery biolink:AnatomicalEntity mondo An artery that is part of a digit [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004552 UBERON:0004553 forelimb digital artery biolink:AnatomicalEntity mondo A digital artery that is part of a forelimb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004553 forelimb digital arteries|digital artery of manus|wing digital artery HP:0100247 Recurrent singultus biolink:PhenotypicFeature mondo MSH:D006606|SNOMEDCT_US:65958008|UMLS:C0744897|UMLS:C0019521 A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. http://purl.obolibrary.org/obo/HP_0100247 Hiccups|Recurrent hiccough|Recurrent synchronous diaphragmatic flutter|Hiccup|Recurrent hiccup GO:0019693 ribose phosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolism HP:0100257 Ectrodactyly biolink:PhenotypicFeature mondo SNOMEDCT_US:81208006|UMLS:C0265554|MSH:C574275|SNOMEDCT_US:13624003 A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. http://purl.obolibrary.org/obo/HP_0100257 Cleft hand|Lobster claw hand hposlim_core HP:0100255 Metaphyseal dysplasia biolink:PhenotypicFeature mondo UMLS:C0265294|SNOMEDCT_US:27837003|MSH:C536252 The presence of dysplastic regions in metaphyseal regions. http://purl.obolibrary.org/obo/HP_0100255 GO:0030003 cellular cation homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of cations at the level of a cell. http://purl.obolibrary.org/obo/GO_0030003 GO:0030001 metal ion transport biolink:OntologyClass mondo The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0030001 heavy metal ion transport HGNC:20499 L2HGDH biolink:OntologyClass mondo http://identifiers.org/hgnc/20499 HP:0100267 Lip pit biolink:PhenotypicFeature mondo UMLS:C0341059 A depression located on a lip. http://purl.obolibrary.org/obo/HP_0100267 hposlim_core HP:0100261 Abnormal tendon morphology biolink:PhenotypicFeature mondo UMLS:C4021026 An abnormality of the structure or form of the tendons, also often called sinews. http://purl.obolibrary.org/obo/HP_0100261 Abnormality of the sinew|Abnormal shape of tendon HGNC:20492 COA8 biolink:OntologyClass mondo http://identifiers.org/hgnc/20492 GO:0032649 regulation of interferon-gamma production biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/GO_0032649 regulation of interferon-gamma biosynthetic process|regulation of type II interferon production|regulation of interferon-gamma secretion NCBITaxon:2499398 Arnidovirineae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2499398 HP:0100276 Skin pit biolink:PhenotypicFeature mondo UMLS:C4022172|UMLS:C4020712 A small, skin-lined tract that leads from the surface to deep within the tissues. http://purl.obolibrary.org/obo/HP_0100276 Skin pits|Skin pit RO:0002022 directly regulated by biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002022 RO:0002023 directly negatively regulated by biolink:OntologyClass mondo Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1. http://purl.obolibrary.org/obo/RO_0002023 GO:0044699 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0044699 RO:0002024 directly positively regulated by biolink:OntologyClass mondo Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1. http://purl.obolibrary.org/obo/RO_0002024 RO:0002025 has effector activity biolink:OntologyClass mondo A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. http://purl.obolibrary.org/obo/RO_0002025 RO:0002019 has ligand biolink:OntologyClass mondo A relationship that holds between between a receptor and an chemical entity, typically a small molecule or peptide, that carries information between cells or compartments of a cell and which binds the receptor and regulates its effector function. http://purl.obolibrary.org/obo/RO_0002019 RO:0002015 has positive regulatory component activity biolink:OntologyClass mondo A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B. http://purl.obolibrary.org/obo/RO_0002015 RO:0002017 has component activity biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002017 RO:0002018 has component process biolink:OntologyClass mondo w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/RO_0002018 NCBITaxon:2499399 Cornidovirineae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2499399 HGNC:20473 BRIP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20473 HGNC:20474 TMC8 biolink:OntologyClass mondo http://identifiers.org/hgnc/20474 RO:0002013 has regulatory component activity biolink:OntologyClass mondo A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B. http://purl.obolibrary.org/obo/RO_0002013 RO:0002014 has negative regulatory component activity biolink:OntologyClass mondo A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B. http://purl.obolibrary.org/obo/RO_0002014 MONDO:0032591 hyperparathyroidism, transient neonatal biolink:Disease mondo OMIM:618188 http://identifiers.org/omim/618188 http://purl.obolibrary.org/obo/MONDO_0032591 HYPERPARATHYROIDISM, TRANSIENT NEONATAL; HRPTTN MONDO:0032592 cardiomyopathy, dilated, 2c biolink:Disease mondo OMIM:618189 http://identifiers.org/omim/618189 http://purl.obolibrary.org/obo/MONDO_0032592 CARDIOMYOPATHY, DILATED, 2C; CMD2C MONDO:0032590 ovarian dysgenesis 8 biolink:Disease mondo OMIM:618187 http://identifiers.org/omim/618187 http://purl.obolibrary.org/obo/MONDO_0032590 OVARIAN DYSGENESIS 8; ODG8 RO:0002005 innervated_by biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002005 nerve supply RO:0002007 bounding layer of biolink:OntologyClass mondo X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 http://purl.obolibrary.org/obo/RO_0002007 MONDO:0032599 immunodeficiency 15a biolink:Disease mondo OMIM:618204 http://identifiers.org/omim/618204 http://purl.obolibrary.org/obo/MONDO_0032599 IMMUNODEFICIENCY 15A; IMD15A MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic biolink:Disease mondo OMIM:618198 http://identifiers.org/omim/618198 http://purl.obolibrary.org/obo/MONDO_0032597 MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC; CMS24 MONDO:0032598 developmental and epileptic encephalopathy, 68 biolink:Disease mondo OMIM:618201 http://identifiers.org/omim/618201 http://purl.obolibrary.org/obo/MONDO_0032598 DEE68|epileptic encephalopathy, early infantile, 68|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68; EIEE68 UBERON:0006800 anatomical line biolink:AnatomicalEntity mondo Non-material anatomical entity of one dimension, which forms a boundary of an anatomical surface or is a modulation of an anatomical surface. http://purl.obolibrary.org/obo/UBERON_0006800 MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic biolink:Disease mondo OMIM:618197 http://identifiers.org/omim/618197 http://purl.obolibrary.org/obo/MONDO_0032596 MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23 MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP biolink:Disease mondo OMIM:618195 http://identifiers.org/omim/618195 http://purl.obolibrary.org/obo/MONDO_0032594 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA; IDDRP OBO:mondo#DUBIOUS dubious synonym biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#DUBIOUS HP:0100299 Muscle fiber inclusion bodies biolink:PhenotypicFeature mondo UMLS:C4022159 http://purl.obolibrary.org/obo/HP_0100299 Muscle fibre inclusion bodies RO:0002000 2D boundary of biolink:OntologyClass mondo a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity http://purl.obolibrary.org/obo/RO_0002000 RO:0002002 has boundary biolink:OntologyClass mondo a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity http://purl.obolibrary.org/obo/RO_0002002 CHEBI:140503 kaolin biolink:ChemicalSubstance mondo An aluminosilicate soft white mineral named after the hill in China (Kao-ling) from which it was mined for centuries. In its natural state kaolin is a white, soft powder consisting principally of the mineral kaolinite, and varying amounts of other minerals such as muscovite, quartz, feldspar, and anatase. It is used in the manufacture of china and porcelain and also widely used in the production of paper, rubber, paint, drying agents, and many other products. http://purl.obolibrary.org/obo/CHEBI_140503 porcelain clay|argilla|white bole|Bolus alba|China clay HGNC:32456 ALG11 biolink:OntologyClass mondo http://identifiers.org/hgnc/32456 GO:0042060 wound healing biolink:OntologyClass mondo The series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/GO_0042060 GO:0042068 regulation of pteridine metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pteridine. http://purl.obolibrary.org/obo/GO_0042068 regulation of pteridine metabolism GO:0042069 regulation of catecholamine metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines. http://purl.obolibrary.org/obo/GO_0042069 regulation of catecholamine metabolism CHEBI:33497 transition element molecular entity biolink:ChemicalSubstance mondo A molecular entity containing one or more atoms of a transition element. http://purl.obolibrary.org/obo/CHEBI_33497 transition metal molecular entity|transition element molecular entities GO:0019637 organophosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. http://purl.obolibrary.org/obo/GO_0019637 organophosphate metabolism HGNC:20449 PADI6 biolink:OntologyClass mondo http://identifiers.org/hgnc/20449 GO:0042073 intraciliary transport biolink:OntologyClass mondo The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. http://purl.obolibrary.org/obo/GO_0042073 intraflagellar transport involved in cilium organization|intraflagellar transport|IFT|intraflagellar transport involved in microtubule-based flagellum organisation GO:0032609 interferon-gamma production biolink:OntologyClass mondo The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/GO_0032609 type II IFN production|IFNG production|interferon-gamma biosynthetic process|type II interferon production|interferon-gamma secretion HGNC:32434 SLC38A8 biolink:OntologyClass mondo http://identifiers.org/hgnc/32434 HGNC:19440 SBDS biolink:OntologyClass mondo http://identifiers.org/hgnc/19440 MONDO:0019571 autosomal dominant cutis laxa biolink:Disease mondo MESH:C562627|Orphanet:90348|GARD:0001639|SCTID:111388003|UMLS:C0268350|ICD10:Q82.8|DOID:0070142 Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. MESH:C562627|DOID:0070142|UMLS:C0268350|ORPHA:90348|SNOMEDCT:111388003 http://purl.obolibrary.org/obo/MONDO_0019571 cutis laxa, autosomal dominant|ADCL gard_rare|ordo_disease MONDO:0019570 Cockayne syndrome type 2 biolink:Disease mondo ICD10:Q87.8|GARD:0001420|UMLS:C0751038|OMIM:133540|Orphanet:90322|NCIT:C135726 Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. http://identifiers.org/omim/133540|NCIT:C135726|ORPHA:90322|UMLS:C0751038 http://purl.obolibrary.org/obo/MONDO_0019570 Cockayne syndrome B; CSB|Cockayne syndrome type 2|Cockayne syndrome type II|Cockayne syndrome B|CSB|Cockayne syndrome type B ordo_clinical_subtype MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome biolink:Disease mondo MESH:C565032|Orphanet:1964|OMIM:133750|UMLS:C1851412 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. http://identifiers.org/omim/133750|UMLS:C1851412|MESH:C565032|ORPHA:1964 http://purl.obolibrary.org/obo/MONDO_0007588 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly|Char-Douglas-Dungan syndrome ordo_malformation_syndrome MONDO:0020566 obsolete Klatskin tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020566 MONDO:0020565 obsolete adenocarcinoma of esophagus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020565 MONDO:0007589 exudative vitreoretinopathy 1 biolink:Disease mondo UMLS:C1851402|MESH:C536382|OMIM:133780 http://identifiers.org/omim/133780|UMLS:C1851402|MESH:C536382 http://purl.obolibrary.org/obo/MONDO_0007589 exudative vitreoretinopathy 1|Fevr, autosomal dominant|retinopathy of prematurity|Criswick-Schepens syndrome|EVR1|exudative vitreoretinopathy type 1|exudative vitreoretinopathy, familial, autosomal dominant|exudative vitreoretinopathy 1; EVR1 MONDO:0007586 exostoses, multiple, type 2 biolink:Disease mondo OMIM:133701|NCIT:C18252|GARD:0002205|UMLS:C1851413 This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes. http://identifiers.org/omim/133701|UMLS:C1851413|NCIT:C18252 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type II|EXT2 Gene|exostoses, multiple caused by mutation in EXT2|exostoses (Multiple) 2 Gene|EXT2 exostoses, multiple|Ext2 gard_rare MONDO:0020564 obsolete well-differentiated liposarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020564 MONDO:0020563 Dedifferentiated liposarcoma biolink:Disease mondo ICD9:171.9|ICD10:C49.9|NCIT:C3704|UMLS:C0205824|ONCOTREE:DDLS|SCTID:404072004|ICDO:8858/3|Orphanet:99970|EFO:0003085 Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. NCIT:C3704|ORPHA:99970|SNOMEDCT:404072004|UMLS:C0205824 http://purl.obolibrary.org/obo/MONDO_0020563 DDLS|Dedifferentiated liposarcoma ordo_histopathological_subtype MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome biolink:Disease mondo UMLS:C2930867|Orphanet:3023|GARD:0004638|OMIM:133705|ICD10:Q87.8 http://identifiers.org/omim/133705|ORPHA:3023|UMLS:C2930867|MESH:C535290 http://purl.obolibrary.org/obo/MONDO_0007587 Rasmussen-Johnsen-Thomsen syndrome|Rasmussen syndrome|Rasmussen Johnsen Thomsen syndrome|external auditory canal, bilateral atresia of, with congenital vertical talus|inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance ordo_malformation_syndrome MONDO:0020562 pleomorphic liposarcoma biolink:Disease mondo EFO:0003083|ICD9:171.9|Orphanet:99969|ICD10:C49.9|UMLS:C0205825|SCTID:404071006|DOID:5702|ONCOTREE:PLLS|NCIT:C3705|ICDO:8854/3 Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma. NCIT:C3705|ORPHA:99969|DOID:5702|SNOMEDCT:404071006|UMLS:C0205825 http://purl.obolibrary.org/obo/MONDO_0020562 pleomorphic liposarcoma|pleomorphic liposarcoma (morphologic abnormality)|PLLS|PLS ordo_histopathological_subtype MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome biolink:Disease mondo ICD10:Q87.5|UMLS:C1851428|OMIM:133690|Orphanet:1962|MESH:C565034 Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. http://identifiers.org/omim/133690|UMLS:C1851428|MESH:C565034|ORPHA:1962 http://purl.obolibrary.org/obo/MONDO_0007584 exostoses with anetodermia and brachydactyly, type E ordo_malformation_syndrome MONDO:0020561 myxoid/round cell liposarcoma biolink:Disease mondo ICD10:C49.9|Orphanet:99967|ONCOTREE:MRLS Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS. ORPHA:99967|UMLS:C0206634 http://purl.obolibrary.org/obo/MONDO_0020561 MRCLS|myxoid/round-cell liposarcoma ordo_histopathological_subtype MONDO:0007585 exostoses, multiple, type 1 biolink:Disease mondo OMIM:133700|GARD:0002204 Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene. http://identifiers.org/omim/133700 http://purl.obolibrary.org/obo/MONDO_0007585 multiple osteochondromas|osteochondromatosis|exostoses, multiple, type I|diaphyseal Aclasis|exostoses, multiple caused by mutation in EXT1|EXT|EXT1 exostoses, multiple|multiple cartilaginous exostoses gard_rare MONDO:0020560 atypical teratoid rhabdoid tumor biolink:Disease mondo EFO:1002008|DOID:2129|ONCOTREE:ATRT|Orphanet:99966|ICDO:9508/3|NCIT:C6906|UMLS:C1266184|ICD10:C49.9|UMLS:CN207484 Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children. UMLS:C1266184|ORPHA:99966|UMLS:CN207484|DOID:2129|NCIT:C6906 http://purl.obolibrary.org/obo/MONDO_0020560 atypical teratoid/rhabdoid tumor (WHO grade IV)|rhabdoid neoplasm of CNS|malignant rhabdoid neoplasm of the brain|ATRT|primary malignant brain rhabdoid tumor|malignant rhabdoid neoplasm of brain|atypical teratoid/rhabdoid tumor|CNS rhabdoid tumor|rhabdoid tumor of CNS|primary malignant rhabdoid neoplasm of the brain|primary malignant rhabdoid tumor of the brain|primary malignant rhabdoid neoplasm of brain|central nervous system rhabdoid neoplasm|CNS rhabdoid neoplasm|primary malignant rhabdoid tumor of brain|primary malignant brain rhabdoid neoplasm|AT/RT|malignant rhabdoid tumor of the brain|malignant rhabdoid tumor of brain|atypical teratoid/rhabdoid tumor (morphologic abnormality)|ATT/RHT|malignant brain rhabdoid neoplasm|AT/RT|rhabdoid tumor of central nervous system|rhabdoid tumor predisposition syndrome|rhabdoid tumor of the central nervous system|central nervous system rhabdoid tumor|rhabdoid neoplasm of central nervous system|rhabdoid neoplasm of the central nervous system|malignant brain rhabdoid tumor|rhabdoid tumor of the CNS|rhabdoid neoplasm of the CNS ordo_clinical_subtype MONDO:0007582 obsolete Cockayne syndrome B biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007582 MONDO:0007583 exostoses of heel biolink:Disease mondo UMLS:C0877431|OMIM:133600|MESH:C563167 UMLS:C0877431|http://identifiers.org/omim/133600|MESH:C563167 http://purl.obolibrary.org/obo/MONDO_0007583 exostoses of heel MONDO:0007580 esterase ES-2, regulator for biolink:Disease mondo OMIM:133300 http://identifiers.org/omim/133300 http://purl.obolibrary.org/obo/MONDO_0007580 esterase ES-2, regulator for MONDO:0007581 exchondrosis of pinna, posterior biolink:Disease mondo OMIM:133500|UMLS:C1851463|MESH:C565036 http://identifiers.org/omim/133500|UMLS:C1851463|MESH:C565036 http://purl.obolibrary.org/obo/MONDO_0007581 exchondrosis of pinna, posterior|Ear bump MONDO:0020559 O'Sullivan-McLeod syndrome biolink:Disease mondo ICD10:G12.8|UMLS:C2721741|Orphanet:99965|MedDRA:10069682 O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. MEDDRA:10069682|UMLS:C2721741|ORPHA:99965 http://purl.obolibrary.org/obo/MONDO_0020559 ordo_clinical_subtype MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K biolink:Disease mondo NCIT:C133886|GARD:0009199|ICD10:G60.0|Orphanet:99944|UMLS:CN207468|SCTID:719512003|UMLS:C1842984 Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy. SNOMEDCT:719512003|ORPHA:99944|NCIT:C133886|UMLS:CN207468|UMLS:C1842984 http://purl.obolibrary.org/obo/MONDO_0020558 Charcot-Marie-Tooth disease type 2K|CMT2K ordo_disease MONDO:0020557 pleuropulmonary blastoma type 3 biolink:Disease mondo ICD10:C34.3|ICD9:162.9|ICD10:C34.2|ICD10:C34.1|Orphanet:99935|SCTID:707673006|UMLS:CN207459|ICD10:C34.9|NCIT:C45628|ICD10:C34.8 A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course. ORPHA:99935|UMLS:CN207459|NCIT:C45628|SNOMEDCT:707673006 http://purl.obolibrary.org/obo/MONDO_0020557 type III pleuropulmonary blastoma ordo_clinical_subtype MONDO:0020556 pleuropulmonary blastoma type 2 biolink:Disease mondo ICD10:C34.3|ICD10:C34.2|ICD10:C34.1|ICD9:162.9|Orphanet:99934|ICD10:C34.9|ICD10:C34.8|UMLS:CN207458|SCTID:707672001|NCIT:C45627 A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course. SNOMEDCT:707672001|ORPHA:99934|UMLS:CN207458|NCIT:C45627 http://purl.obolibrary.org/obo/MONDO_0020556 type II pleuropulmonary blastoma ordo_clinical_subtype MONDO:0019577 anonychia-onychodystrophy syndrome biolink:Disease mondo Orphanet:90390|ICD10:Q84.3|UMLS:C1862840|MESH:C536378 ORPHA:90390|UMLS:C1862840|MESH:C536378 http://purl.obolibrary.org/obo/MONDO_0019577 ordo_clinical_subtype HP:0004394 Multiple gastric polyps biolink:PhenotypicFeature mondo SNOMEDCT_US:87252009|MSH:C562464|SNOMEDCT_US:78809005|UMLS:C0236048 http://purl.obolibrary.org/obo/HP_0004394 MONDO:0019576 telangiectasia macularis eruptiva perstans biolink:Disease mondo UMLS:C0263402|MedDRA:10043192|Orphanet:90389|ICD9:448.9|SCTID:8214000|ICD10:Q82.2 UMLS:C0263402|MEDDRA:10043192|ORPHA:90389|SNOMEDCT:8214000 http://purl.obolibrary.org/obo/MONDO_0019576 ordo_clinical_subtype MONDO:0019579 discrete papular lichen myxedematosus biolink:Disease mondo Orphanet:90394|SCTID:717258005|ICD10:L98.5|UMLS:C4273967 Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk. SNOMEDCT:717258005|ORPHA:90394|UMLS:C4273967 http://purl.obolibrary.org/obo/MONDO_0019579 ordo_disease GO:0030099 myeloid cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. http://purl.obolibrary.org/obo/GO_0030099 MONDO:0019578 nodular lichen myxedematosus biolink:Disease mondo Orphanet:90393|ICD10:L98.5|SCTID:717257000|UMLS:C4273968 Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. ORPHA:90393|SNOMEDCT:717257000|UMLS:C4273968 http://purl.obolibrary.org/obo/MONDO_0019578 atypical tuberous myxedema of Jadassohn-Dosseker ordo_disease MONDO:0019573 autosomal recessive cutis laxa type 2 biolink:Disease mondo ICD10:Q82.8|Orphanet:90350 Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). ORPHA:90350|UMLS:C0432337 http://purl.obolibrary.org/obo/MONDO_0019573 cutis laxa with joint laxity and developmental delay|ARCL2 ordo_group_of_disorders GO:0030097 hemopoiesis biolink:OntologyClass mondo The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. http://purl.obolibrary.org/obo/GO_0030097 blood cell formation|hematopoiesis|blood cell biosynthesis|haemopoiesis GO:0030098 lymphocyte differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/GO_0030098 lymphocytic blood cell differentiation|lymphocyte cell differentiation|lymphocyte development MONDO:0019572 autosomal recessive cutis laxa type 1 biolink:Disease mondo Orphanet:90349|GARD:0008480|SCTID:254222002|UMLS:CN206407|PMID:19401719|GARD:8480|ICD10:Q82.8|DOID:0070144|MESH:C536225 Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). DOID:0070144|SNOMEDCT:254222002|ORPHA:90349|MESH:C536225|UMLS:C0432336|UMLS:CN206407 http://purl.obolibrary.org/obo/MONDO_0019572 autosomal recessive cutis laxa type I|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, type 1|cutis laxa, autosomal recessive type 1|autosomal recessive cutis laxa type 1|autosomal recessive cutis laxa, pulmonary emphysema type|ARCL1 ordo_disease MONDO:0019575 hypotrichosis simplex of the scalp biolink:Disease mondo Orphanet:90368|SCTID:717256009|ICD10:L65.8 Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp. ORPHA:90368|SNOMEDCT:717256009 http://purl.obolibrary.org/obo/MONDO_0019575 hereditary hypotrichosis simplex of the scalp ordo_disease MONDO:0019574 secondary intestinal lymphangiectasia biolink:Disease mondo UMLS:C4273969|SCTID:717255008|ICD10:I89.0|Orphanet:90363 Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. ORPHA:90363|UMLS:C4273969|SNOMEDCT:717255008 http://purl.obolibrary.org/obo/MONDO_0019574 ordo_disease MONDO:0019560 lupus erythematosus tumidus biolink:Disease mondo ICD10:L93.2|SCTID:200941006|UMLS:C0406636|NCIT:C117112|GARD:0013003|Orphanet:90283 Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy. SNOMEDCT:200941006|NCIT:C117112|ORPHA:90283|UMLS:C0406636 http://purl.obolibrary.org/obo/MONDO_0019560 let|tumid lupus erythematosus|intermittent cutaneous lupus ordo_disease|gard_rare HGNC:20444 MBD5 biolink:OntologyClass mondo http://identifiers.org/hgnc/20444 FOODON:03460111 food treatment process biolink:OntologyClass mondo Used to specifically characterize a food product based on the treatment or processes applied to the product or any indexed ingredient. The processes include adding, substituting or removing components or modifying the food or component, e.g., through fermentation. Multiple values can be assigned. http://purl.obolibrary.org/obo/FOODON_03460111 MONDO:0007599 factor 9 and Factor XI, combined deficiency of biolink:Disease mondo MESH:C565022|UMLS:C1851374|OMIM:134540 http://identifiers.org/omim/134540|UMLS:C1851374|MESH:C565022 http://purl.obolibrary.org/obo/MONDO_0007599 factor IX and factor XI, combined deficiency OF|familial multiple coagulation Factor deficiency 6|multiple coagulation Factor deficiency 6 MONDO:0020555 pleuropulmonary blastoma type 1 biolink:Disease mondo ICD9:162.9|SCTID:707671008|ICD10:C34.9|ICD10:C34.8|Orphanet:99933|UMLS:CN207457|ICD10:C34.3|NCIT:C45626|ICD10:C34.2|ICD10:C34.1 A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent. SNOMEDCT:707671008|ORPHA:99933|UMLS:CN207457|NCIT:C45626 http://purl.obolibrary.org/obo/MONDO_0020555 type I pleuropulmonary blastoma ordo_clinical_subtype MONDO:0020554 Heiner syndrome biolink:Disease mondo ICD9:518.89|SCTID:707441009|ICD10:E83.1+|ICD10:J99.8*|Orphanet:99932|UMLS:CN207456 Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet. SNOMEDCT:707441009|ORPHA:99932|UMLS:CN207456 http://purl.obolibrary.org/obo/MONDO_0020554 cow's milk hypersensitivity ordo_clinical_subtype MONDO:0007597 factor VIII and Factor IX, combined deficiency of biolink:Disease mondo OMIM:134510|UMLS:C1851376|MESH:C565024 http://identifiers.org/omim/134510|UMLS:C1851376|MESH:C565024 http://purl.obolibrary.org/obo/MONDO_0007597 factor VIII and factor IX, combined deficiency OF; F8F9D|F8F9D|factor 8 and Factor IX, combined deficiency of|factor VIII and Factor IX, combined deficiency of|familial multiple coagulation Factor deficiency 2 MONDO:0020553 secondary pulmonary hemosiderosis biolink:Disease mondo SCTID:716712004|ICD10:E83.1+|ICD10:J99.8*|UMLS:C4274326|Orphanet:99930 Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography UMLS:C4274326|ORPHA:99930|SNOMEDCT:716712004 http://purl.obolibrary.org/obo/MONDO_0020553 ordo_disease MONDO:0020552 placental site trophoblastic tumor biolink:Disease mondo SCTID:237252008|ICD10:D39.2|ICDO:9104/1|Orphanet:99928|MESH:D018245|UMLS:C0206666|DOID:3596|EFO:1001111|ONCOTREE:PSTT|NCIT:C3757 Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. NCIT:C3757|ORPHA:99928|UMLS:C0206666|SNOMEDCT:237252008|DOID:3596|MESH:D018245 http://purl.obolibrary.org/obo/MONDO_0020552 placental-site GTT|placental site gestational trophoblastic tumor|placental-site gestational trophoblastic neoplasm|placental site trophoblastic tumor (morphologic abnormality)|placental site trophoblastic tumor|placental-site gestational trophoblastic tumor|PSST ordo_disease MONDO:0007598 factors VIII, IX and XI, combined deficiency of biolink:Disease mondo OMIM:134520|UMLS:C1851375|MESH:C565023 http://identifiers.org/omim/134520|UMLS:C1851375|MESH:C565023 http://purl.obolibrary.org/obo/MONDO_0007598 factors VIII, IX and XI, combined deficiency of|familial multiple coagulation Factor deficiency 5|factors VIII, 9 and Xi, combined deficiency of|multiple coagulation Factor deficiency 5 MONDO:0020551 obsolete hydatidiform mole biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020551 MONDO:0007595 factor VII and Factor VIII, combined deficiency of biolink:Disease mondo UMLS:C1851377|OMIM:134430|MESH:C565025 UMLS:C1851377|MESH:C565025|http://identifiers.org/omim/134430 http://purl.obolibrary.org/obo/MONDO_0007595 factor VII and Factor VIII, combined deficiency of|familial multiple coagulation Factor deficiency 4|multiple coagulation Factor deficiency 4|factor 7 and Factor VIII, combined deficiency of MONDO:0020550 gestational choriocarcinoma biolink:Disease mondo UMLS:C0349557|Orphanet:99926|ICD10:C58|SCTID:417570003|DOID:2025|ICD9:181|NCIT:C4646 Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. NCIT:C4646|SNOMEDCT:417570003|ORPHA:99926|DOID:2025|UMLS:C0349557 http://purl.obolibrary.org/obo/MONDO_0020550 gestational choriocarcinoma|gestational choriocarcinoma (morphologic abnormality)|gestational chorionepithelioma|molar pregnancy with choriocarcinoma ordo_disease MONDO:0007596 obsolete factor VIII deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007596 MONDO:0007593 facial spasm biolink:Disease mondo OMIM:134300 http://identifiers.org/omim/134300 http://purl.obolibrary.org/obo/MONDO_0007593 facial spasm MONDO:0007594 factor 5 excess with spontaneous thrombosis biolink:Disease mondo UMLS:C1851378|OMIM:134400|MESH:C565026 UMLS:C1851378|MESH:C565026|http://identifiers.org/omim/134400 http://purl.obolibrary.org/obo/MONDO_0007594 thrombophilia with elevated Factor 5|factor V excess with spontaneous thrombosis|Proaccelerin Excess MONDO:0007591 facial hypertrichosis (disease) biolink:Disease mondo MESH:C565029|OMIM:134000|HP:0002219 MESH:C565029|http://identifiers.org/omim/134000 http://purl.obolibrary.org/obo/MONDO_0007591 facial hypertrichosis MONDO:0007592 familial recurrent peripheral facial palsy biolink:Disease mondo OMIM:134200|UMLS:C1851399|Orphanet:2809|MESH:C565028|ICD10:G51.0 UMLS:C1851399|MESH:C565028|ORPHA:2809|http://identifiers.org/omim/134200 http://purl.obolibrary.org/obo/MONDO_0007592 familial recurrent Bell palsy|facial palsy, familial recurrent peripheral ordo_disease MONDO:0020549 invasive hydatidiform mole biolink:Disease mondo ICD10:D39.2|ICDO:9100/1|ONCOTREE:IHM|MESH:D002820|NCIT:C6985|Orphanet:99925|SCTID:416669000|UMLS:C0008493 A complete hydatidiform mole or very rarely a partial mole that invades the myometrium. NCIT:C6985|SNOMEDCT:416669000|MESH:D002820|ORPHA:99925|UMLS:C0008493 http://purl.obolibrary.org/obo/MONDO_0020549 invasive hydatidiform mole|invasive hydatidiform Mole|chorioadenoma Destruens|chorioadenoma destruens|chorioadenoma|IHM|invasive Mole|invasive gestational trophoblastic neoplasm ordo_disease MONDO:0007590 hemifacial hypertrophy biolink:Disease mondo ICD10:Q67.4|Orphanet:141145|OMIM:133900|UMLS:C1399354 Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties. http://identifiers.org/omim/133900|ORPHA:141145|UMLS:C1399354 http://purl.obolibrary.org/obo/MONDO_0007590 facial asymmetry|hemifacial hyperplasia|hemifacial hypertrophy|facial hemihypertrophy ordo_malformation_syndrome MONDO:0020548 ocular pemphigoid biolink:Disease mondo ICD10:H13.3*|MedDRA:10067776|Orphanet:99922|SCTID:34250006|ICD10:L12+ Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease. SNOMEDCT:34250006|MEDDRA:10067776|ORPHA:99922 http://purl.obolibrary.org/obo/MONDO_0020548 ordo_disease MONDO:0019569 Cockayne syndrome type 1 biolink:Disease mondo Orphanet:90321|NCIT:C135725|ICD10:Q87.8|OMIM:216400|UMLS:C0751039|GARD:0001415 Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. UMLS:C0751039|NCIT:C135725|http://identifiers.org/omim/216400|ORPHA:90321 http://purl.obolibrary.org/obo/MONDO_0019569 Cockayne syndrome classical|Cockayne syndrome type a|Cockayne syndrome classic form|Cockayne syndrome A|CSA|ERCC8 Cockayne syndrome|Cockayne syndrome A; CSA|Cockayne syndrome type I|Cockayne syndrome type A|Cockayne syndrome caused by mutation in ERCC8 ordo_clinical_subtype MONDO:0020547 chronic graft versus host disease biolink:Disease mondo ICD10:T86.0|ICD10:D89.811|UMLS:C0867389|SCTID:402356004|GARD:0010964|ICD9:279.52|NCIT:C4981|Orphanet:99921|MedDRA:10066261|COHD:434314 Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications. NCIT:C4981|MEDDRA:10066261|ORPHA:99921|SNOMEDCT:402356004|UMLS:C0867389 http://purl.obolibrary.org/obo/MONDO_0020547 chronic GVHD|GVHD, chronic|graft versus host disease, chronic gard_rare|ordo_clinical_subtype MONDO:0020546 acute graft versus host disease biolink:Disease mondo COHD:439416|GARD:0006544|ICD10:D89.810|SCTID:402355000|NCIT:C4980|ICD9:279.51|Orphanet:99920|UMLS:C0856825|ICD10:T86.0|MedDRA:10066260 A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation. NCIT:C4980|MEDDRA:10066260|ORPHA:99920|UMLS:C0856825|SNOMEDCT:402355000 http://purl.obolibrary.org/obo/MONDO_0020546 fulminant graft versus host disease|acute GVHD|GVHD, acute|graft versus host disease, acute ordo_clinical_subtype|gard_rare MONDO:0020545 staphylococcal toxic-shock syndrome biolink:Disease mondo ICD9:040.89|Orphanet:99919|ICD10:A48.3|SCTID:240450004|MedDRA:10044250 Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection. MEDDRA:10044250|SNOMEDCT:240450004|ORPHA:99919 http://purl.obolibrary.org/obo/MONDO_0020545 Staphylococcus caused toxic shock syndrome|Staphylococcus toxic shock syndrome|staphylococcal TSS ordo_etiological_subtype MONDO:0032566 squalene synthase deficiency biolink:Disease mondo OMIM:618156 http://identifiers.org/omim/618156 http://purl.obolibrary.org/obo/MONDO_0032566 Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids|SQUALENE SYNTHASE DEFICIENCY; SQSD MONDO:0019566 obsolete Klippel-Trenaunay syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019566 MONDO:0019565 hereditary von Willebrand disease biolink:Disease mondo GARD:0007867|MedDRA:10047715|ICD9:286.4|DOID:12531|ICD10:D68.0|UMLS:C0042974|MESH:C531844|ICD10:D69.8|Orphanet:903|SCTID:234446004 Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N). ORPHA:903|UMLS:C0042974|DOID:12531|MESH:C531844|SNOMEDCT:234446004|MEDDRA:10047715 http://purl.obolibrary.org/obo/MONDO_0019565 vascular hemophilia|hereditary von Willebrand disease (hereditary or acquired)|von Willebrand's-Jurgens' disease|von Willebrand disorder|von Willebrand-Jrgens disease|von Willebrand's disease|congenital von willebrand's disease|vascular pseudohemophilia|congenital von willebrand disease|von Willebrand-Jurgens disease|von Willebrand disease ordo_disease MONDO:0032567 isolated growth hormone deficiency, type 4 biolink:Disease mondo OMIM:618157 http://identifiers.org/omim/618157 http://purl.obolibrary.org/obo/MONDO_0032567 Isolated Growth Hormone Deficiency, Type Ib, Formerly|Isolated Growth Hormone Deficiency, Type Ib|Dwarfism of Sindh|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 MONDO:0019568 Ehlers-Danlos syndrome type 2 biolink:Disease mondo UMLS:C0268336|MESH:C536195|NCIT:C125697|OMIM:130010|ICD10:Q79.6|Orphanet:90318 Ehlers-Danlos syndrome, type II belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene. NCIT:C125697|UMLS:C0268336|http://identifiers.org/omim/130010|ORPHA:90318|MESH:C536195 http://purl.obolibrary.org/obo/MONDO_0019568 Ehlers Danlos syndrome, mitis type|EDS II|Ehlers Danlos syndrome, mild Classic type, formerly|EDSCL2|Ehlers-Danlos syndrome, type Ii, formerly|Ehlers Danlos syndrome, mild Classic type|Ehlers-Danlos syndrome, type Ii|Ehlers-Danlos syndrome, classic type, 2; EDSCL2|EDS II, formerly|Ehlers Danlos syndrome, mitis type, formerly ordo_etiological_subtype HGNC:20439 UPF3B biolink:OntologyClass mondo http://identifiers.org/hgnc/20439 MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 biolink:Disease mondo OMIM:618154 http://identifiers.org/omim/618154 http://purl.obolibrary.org/obo/MONDO_0032564 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3 MONDO:0019567 Ehlers-Danlos syndrome type 1 biolink:Disease mondo ICD10:Q79.6|Orphanet:90309|SCTID:83470009|DOID:14720|UMLS:C0268335|NCIT:C125696|MESH:C536194 Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene. SNOMEDCT:83470009|DOID:14720|NCIT:C125696|UMLS:C0268335|ORPHA:90309|MESH:C536194 http://purl.obolibrary.org/obo/MONDO_0019567 type I Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type I|EDS I|Ehlers-Danlos syndrome, type 1|Ehlers-Danlos syndrome, type I ordo_etiological_subtype MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies biolink:Disease mondo OMIM:618155 http://identifiers.org/omim/618155 http://purl.obolibrary.org/obo/MONDO_0032565 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA MONDO:0019562 localized scleroderma biolink:Disease mondo UMLS:C0036420|GARD:0007058|MESH:D012594|ICD9:701.0|COHD:441928|DOID:8472|NCIT:C72069|Orphanet:90289|ICD10:L94.0|MedDRA:10039712|SCTID:201048007 Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips. NCIT:C72069|MEDDRA:10039712|DOID:8472|ORPHA:90289|SNOMEDCT:201048007|MESH:D012594|UMLS:C0036420 http://purl.obolibrary.org/obo/MONDO_0019562 morphea|localized scleroderma (disorder) [ambiguous]|Scleroderma, circumscribed or localized|circumscribed scleroderma|Scleroderma, localized|localised morphoea|localized morphea|localized scleroderma|localized fibrosing scleroderma ordo_disease MONDO:0019561 lupus erythematosus panniculitis biolink:Disease mondo NCIT:C82884|MESH:D015435|ICD10:L93.2|UMLS:C0030327|SCTID:15084002|Orphanet:90285 A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45. SNOMEDCT:15084002|MESH:D015435|ORPHA:90285|NCIT:C82884|UMLS:C0030327 http://purl.obolibrary.org/obo/MONDO_0019561 lupus profundus|lupus panniculitis|lupus erythematosus profundus ordo_disease MONDO:0019564 obsolete systemic sclerosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019564 MONDO:0019563 CREST syndrome biolink:Disease mondo MedDRA:10011380|NCIT:C70646|ICD10:M34.1|MESH:D017675|SCTID:31848007|Orphanet:90290|COHD:4135937|DOID:0060218|UMLS:C0206138|GARD:0012430 CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. DOID:0060218|SNOMEDCT:31848007|MESH:D017675|NCIT:C70646|MEDDRA:10011380|ORPHA:90290|UMLS:C0206138 http://purl.obolibrary.org/obo/MONDO_0019563 lcSSc|calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia|limited cutaneous Systemic sclerosis|syndrome, CREST|phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud|calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome|calcinosis Raynaud phenomenon sclerodactyly telangiectasia|calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia|CRST syndromes|limited cutaneous Systemic Scleroderma|CRST syndrome|calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome ordo_clinical_subtype MONDO:0007568 aortic aneurysm, familial thoracic 4 biolink:Disease mondo OMIM:132900|MESH:C537784|GARD:0009876|UMLS:C1851504 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene. MESH:C537784|UMLS:C1851504|http://identifiers.org/omim/132900 http://purl.obolibrary.org/obo/MONDO_0007568 aortic aneurysm, familial thoracic 4; AAT4|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11|aortic aneurysm, familial thoracic 4|aortic aneurysm, familial thoracic type 4|aortic aneurysm/aortic dissection and patent ductus arteriosus|FAA4|MYH11 familial thoracic aortic aneurysm and aortic dissection|AAT4 gard_rare MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay biolink:Disease mondo OMIM:618158 http://identifiers.org/omim/618158 http://purl.obolibrary.org/obo/MONDO_0032568 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD MONDO:0007569 erythema nodosum, familial biolink:Disease mondo OMIM:132990|MESH:C535510|UMLS:C1851503|GARD:0009259 MESH:C535510|UMLS:C1851503|http://identifiers.org/omim/132990 http://purl.obolibrary.org/obo/MONDO_0007569 familial erythema nodosum|erythema nodosum, familial gard_rare MONDO:0032569 isolated growth hormone deficiency, type 5 biolink:Disease mondo OMIM:618160 http://identifiers.org/omim/618160 http://purl.obolibrary.org/obo/MONDO_0032569 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V; IGHD5 MONDO:0007566 multiple self-healing squamous epithelioma biolink:Disease mondo ICD10:C44.3|SCTID:254659009|GARD:0003090|NCIT:C4461|OMIM:132800|DOID:5585|ICD10:C44.7|MESH:C536150|ICD10:C44.6|Orphanet:65748|UMLS:C0345982 Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars. DOID:5585|MESH:C536150|SNOMEDCT:254659009|ORPHA:65748|NCIT:C4461|http://identifiers.org/omim/132800|UMLS:C0345982 http://purl.obolibrary.org/obo/MONDO_0007566 ESS1|Ferguson-Smith-type epithelioma|Ferguson-Smith tumor|MSSE|self-healing squamous epithelioma type 1|multiple self-healing squamous epithelioma, susceptibility to|multiple self healing squamous epithelioma|familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type|ESS1 (formerly)|multiple self-healing epithelioma of Ferguson-Smith|multiple keratoacanthoma, Ferguson-Smith type|ESS1, formerly|Ferguson-Smith disease|multiple self healing epithelioma of Ferguson-Smith|Ferguson-Smith type epithelioma|multiple self-healing squamous epithelioma, susceptibility to; MSSE ordo_disease|gard_rare MONDO:0020544 streptococcal toxic-shock syndrome biolink:Disease mondo UMLS:C0343532|Orphanet:99918|ICD10:A48.3|MedDRA:10044251|SCTID:240451000 Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection. SNOMEDCT:240451000|ORPHA:99918|UMLS:C0343532|MEDDRA:10044251 http://purl.obolibrary.org/obo/MONDO_0020544 Streptococcus toxic shock syndrome|streptococcal TSS|Streptococcus caused toxic shock syndrome ordo_etiological_subtype MONDO:0007567 obsolete Epstein-Barr virus insertion site 1 biolink:Disease mondo OMIM:132850 http://identifiers.org/omim/132850 http://purl.obolibrary.org/obo/MONDO_0007567 Epstein-Barr virus insertion site 1|Epstein-Barr Virus integration site|Epstein-Barr Virus insertion site type 1|Epstein-Barr VIRUS insertion site 1; EBVS1|EBVS1 MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified biolink:Disease mondo Orphanet:99917|ICD10:C56|UMLS:CN207444 Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome. ORPHA:99917|UMLS:CN207444 http://purl.obolibrary.org/obo/MONDO_0020543 theca (steroid-producing) cell cancer, not further specified ordo_disease MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary biolink:Disease mondo UMLS:CN207443|UMLS:C0342515|SCTID:237795006|Orphanet:99916|ICD9:239.5|ICD10:C56 Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional. SNOMEDCT:237795006|ORPHA:99916|UMLS:C0342515|UMLS:CN207443 http://purl.obolibrary.org/obo/MONDO_0020542 malignant ovarian Sertoli-Leydig cell tumor|Androblastoma|malignant ovarian sertoli-Leydig cell tumor|virilizing ovarian tumor|malignant Sertoli-Leydig cell tumor of the ovary|Arrhenoblastoma|ovarian sertoli-Leydig cell tumor, malignant|ovarian Sertoli-Leydig cell tumor, malignant|ovarian malignant Sertoli-Leydig cell tumor|ovarian Sertoli-Leydig cell cancer ordo_disease MONDO:0007564 pilomatrixoma biolink:Disease mondo NCIT:C7368|EFO:0009082|MedDRA:10035040|UMLS:C0853031|DOID:5374|ICDO:8110/0|Orphanet:91414|MESH:D018296|UMLS:C0206711|OMIM:132600|SCTID:274901004|ICD10:C44.6|GARD:0009452|ICD10:C44.3 Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome. UMLS:C0206711|UMLS:C0853031|NCIT:C7368|MESH:D018296|SNOMEDCT:274901004|http://identifiers.org/omim/132600|ORPHA:91414|MEDDRA:10035040|DOID:5374 http://purl.obolibrary.org/obo/MONDO_0007564 calcifying Epitherlioma of Malherbe|PTR|calcifying epithelioma of Malherbe|pilomatrixoma, benign|pilomatrixoma|benign pilomatrixoma|pilomatricoma|epithelioma calcificans of Malherbe|benign hair follicle neoplasm|benign pilomatricoma gard_rare|ordo_malformation_syndrome MONDO:0020541 maligant granulosa cell tumor of ovary biolink:Disease mondo UMLS:CN207442|GARD:0008642|Orphanet:99915|UMLS:C0346175|NCIT:C8403|ICD10:C56|SCTID:254861002 An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites. UMLS:C0334401|UMLS:C0346175|UMLS:C1567257|ORPHA:99915|NCIT:C8403|UMLS:CN207442|SNOMEDCT:254861002 http://purl.obolibrary.org/obo/MONDO_0020541 cancer of granulosa cell|granulosa theca cell tumor of the ovary|granulosa theca cell tumor|ovarian granulosa cell tumor of adults|GTCT|malignant granulosa cell neoplasm of the ovary|GCT of the ovary|malignant ovarian granulosa cell tumor|malignant granulosa cell neoplasm of ovary|malignant granulosa cell tumor of the ovary|adult granulosa cell tumor of the ovary|malignant granulosa cell tumor of ovary|adult ovarian granulosa cell tumor|granulosa cell cancer|malignant granulosa cell neoplasm|Maligant granulosa cell tumor of the ovary|malignant ovarian granulosa cell neoplasm|granulosa cell malignant tumor gard_rare|ordo_disease MONDO:0007565 familial cylindromatosis biolink:Disease mondo GARD:0009707|OMIM:132700|Orphanet:211|NCIT:C43352|MESH:C536611 MESH:C536611|UMLS:C1704217|NCIT:C43352|UMLS:C1851526|http://identifiers.org/omim/132700|ORPHA:211 http://purl.obolibrary.org/obo/MONDO_0007565 Ancell-Spiegler Cylindromas|'turban tumor' syndrome|turban tumors|CYLD|cylindromatosis, familial|turban tumor syndrome|turban tumor|Cylindromas, dermal eccrine|Ancell-Spiegler syndrome ordo_clinical_subtype MONDO:0020540 ovarian gynandroblastoma biolink:Disease mondo GARD:0009665|ICDO:8632/1|EFO:1000422|Orphanet:99914|ICD10:D40.1|UMLS:C0018413|UMLS:C0346178|ICD10:D39.1|NCIT:C3072|SCTID:254867003 A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both. NCIT:C3072|SNOMEDCT:254867003|UMLS:C0346178|ORPHA:99914|UMLS:C0018413 http://purl.obolibrary.org/obo/MONDO_0020540 Gynandroblastoma of the ovary|Gynandroblastoma of ovary|Gynandroblastoma gard_rare|ordo_disease MONDO:0007562 multiple epiphyseal dysplasia, Beighton type biolink:Disease mondo MESH:C565046|SCTID:719689005|ICD10:Q77.3|Orphanet:166011|OMIM:132450 Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits. SNOMEDCT:719689005|http://identifiers.org/omim/132450|ORPHA:166011|MESH:C565046 http://purl.obolibrary.org/obo/MONDO_0007562 EDMMD|multiple epiphyseal dysplasia-myopia-deafness syndrome|epiphyseal dysplasia, multiple, with myopia and conductive deafness; EDMMD|epiphyseal dysplasia, multiple, with myopia and conductive deafness ordo_disease MONDO:0007563 obsolete epistaxis, hereditary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007563 MONDO:0007560 reading seizures biolink:Disease mondo UMLS:C0278193|OMIM:132300|Orphanet:166433|ICD10:G40.8 http://identifiers.org/omim/132300|ORPHA:166433|UMLS:C0278193 http://purl.obolibrary.org/obo/MONDO_0007560 epilepsy, reading ordo_disease MONDO:0007561 multiple epiphyseal dysplasia type 1 biolink:Disease mondo Orphanet:93308|UMLS:C1838280|SCTID:715673002|DOID:0070303|GARD:0002180|UMLS:C4275061|OMIM:132400|ICD10:Q77.3 Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. UMLS:C1838280|MESH:C535501|SNOMEDCT:715673002|UMLS:C4275061|ORPHA:93308|http://identifiers.org/omim/132400|DOID:0070303 http://purl.obolibrary.org/obo/MONDO_0007561 epiphyseal dysplasia, multiple, 1; EDM1|multiple epiphyseal dysplasia (disease) caused by mutation in COMP|Polyepiphyseal dysplasia type 1|multiple epiphyseal dysplasia COMP-related|MED1|EDM1|multiple epiphyseal dysplasia 1|epiphyseal dysplasia, ribbing type|COMP multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia, Comp-related|epiphyseal dysplasia, Fairbank type|epiphyseal dysplasia multiple 1|epiphyseal dysplasia, multiple, type 1|epiphyseal dysplasia, multiple, 1 ordo_disease|gard_rare MONDO:0032570 Joubert syndrome 35 biolink:Disease mondo OMIM:618161 http://identifiers.org/omim/618161 http://purl.obolibrary.org/obo/MONDO_0032570 JOUBERT SYNDROME 35; JBTS35 GO:0030072 peptide hormone secretion biolink:OntologyClass mondo The regulated release of a peptide hormone from a cell. http://purl.obolibrary.org/obo/GO_0030072 HP:0004378 Abnormality of the anus biolink:PhenotypicFeature mondo UMLS:C4025329 Abnormality of the anal canal. http://purl.obolibrary.org/obo/HP_0004378 Abnormality of the anus MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor biolink:Disease mondo UMLS:CN207440|Orphanet:99913 UMLS:CN207440|ORPHA:99913 http://purl.obolibrary.org/obo/MONDO_0020539 ordo_group_of_disorders MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary biolink:Disease mondo ICD10:C56|Orphanet:99912|UMLS:CN207439 Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality. UMLS:CN207439|ORPHA:99912 http://purl.obolibrary.org/obo/MONDO_0020538 dysgerminomatous germ cell cancer of the ovary|dysgerminomatous germ cell cancer of ovary|malignant dysgerminomatous germ cell tumor of the ovary|malignant ovarian dysgerminoma ordo_disease HP:0004377 Hematological neoplasm biolink:PhenotypicFeature mondo SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|UMLS:C0376545|MSH:D019337 Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). http://purl.obolibrary.org/obo/HP_0004377 Haematological neoplasm|Blood tumor MONDO:0020537 occupational allergic alveolitis biolink:Disease mondo Orphanet:99909 Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise ORPHA:99909 http://purl.obolibrary.org/obo/MONDO_0020537 ordo_group_of_disorders MONDO:0019559 hypertrophic or verrucous lupus erythematosus biolink:Disease mondo UMLS:CN227653|Orphanet:90282|ICD10:L93.2 UMLS:CN227653|ORPHA:90282 http://purl.obolibrary.org/obo/MONDO_0019559 ordo_disease MONDO:0020536 obsolete pigeon-breeder lung disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020536 MONDO:0019558 discoid lupus erythematosus biolink:Disease mondo MESH:D008179|UMLS:C0024138|Orphanet:90281|MedDRA:10013072|COHD:4066824|SCTID:200938002|ICD10:L93.0|NCIT:C26820 A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). MESH:D008179|UMLS:C0024138|SNOMEDCT:200938002|MEDDRA:10013072|NCIT:C26820|ORPHA:90281 http://purl.obolibrary.org/obo/MONDO_0019558 DLE ordo_disease MONDO:0020535 house allergic alveolitis biolink:Disease mondo ICD10:J67.8|SCTID:725415009|Orphanet:99907|UMLS:C4511048 House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis. UMLS:C4511048|SNOMEDCT:725415009|ORPHA:99907 http://purl.obolibrary.org/obo/MONDO_0020535 ordo_disease MONDO:0020534 obsolete farmer's lung biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020534 HP:0004372 Reduced consciousness/confusion biolink:PhenotypicFeature mondo UMLS:C0234428|SNOMEDCT_US:3006004 http://purl.obolibrary.org/obo/HP_0004372 Lowered consciousness|Reduced consciousness/confusion|Disturbances of consciousness MONDO:0032577 retinitis pigmentosa 83 biolink:Disease mondo OMIM:618173 http://identifiers.org/omim/618173 http://purl.obolibrary.org/obo/MONDO_0032577 RETINITIS PIGMENTOSA 83; RP83 MONDO:0019555 panniculitis and localized lipodystrophy biolink:Disease mondo UMLS:CN227651|Orphanet:90159|ICD10:E88.1 UMLS:CN227651|ORPHA:90159 http://purl.obolibrary.org/obo/MONDO_0019555 panniculitis-induced localized lipodystrophy ordo_disease MONDO:0019554 idiopathic localized lipodystrophy biolink:Disease mondo UMLS:CN227650|Orphanet:90158|ICD10:E88.1 Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc). ORPHA:90158|UMLS:CN227650 http://purl.obolibrary.org/obo/MONDO_0019554 ordo_disease MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 biolink:Disease mondo OMIM:618174 http://identifiers.org/omim/618174 http://purl.obolibrary.org/obo/MONDO_0032578 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9 HP:0004370 Abnormality of temperature regulation biolink:PhenotypicFeature mondo MSH:D001832|UMLS:C0005904|UMLS:C1832160 An abnormality of temperature homeostasis. http://purl.obolibrary.org/obo/HP_0004370 Abnormality of temperature regulation|Body temperature changes|Poor temperature regulation MONDO:0019557 chilblain lupus biolink:Disease mondo UMLS:CN239336|DOID:0060386|Orphanet:90280|MedDRA:10025141|UMLS:C0024145|ICD10:L93.2 A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative. UMLS:C0024145|MESH:C535924|DOID:0060386|MEDDRA:10025141|UMLS:CN239336|ORPHA:90280 http://purl.obolibrary.org/obo/MONDO_0019557 CHLE|Hutchinson lupus ordo_disease MONDO:0032575 diarrhea 9 biolink:Disease mondo OMIM:618168 http://identifiers.org/omim/618168 http://purl.obolibrary.org/obo/MONDO_0032575 DIARRHEA 9; DIAR9 HGNC:20406 KRT6C biolink:OntologyClass mondo http://identifiers.org/hgnc/20406 MONDO:0019556 pressure-induced localized lipoatrophy biolink:Disease mondo SCTID:238898001|UMLS:CN227652|Orphanet:90160|ICD10:E88.1 Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present. SNOMEDCT:238898001|UMLS:CN227652|ORPHA:90160 http://purl.obolibrary.org/obo/MONDO_0019556 lipoatrophia semicircularis|semicircular lipoatrophy ordo_disease HGNC:20407 CALR3 biolink:OntologyClass mondo http://identifiers.org/hgnc/20407 MONDO:0032576 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0032576 NCBITaxon:1437201 Pentapetalae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1437201 MONDO:0032573 bone marrow failure syndrome 5 biolink:Disease mondo OMIM:618165 http://identifiers.org/omim/618165 http://purl.obolibrary.org/obo/MONDO_0032573 BONE MARROW FAILURE SYNDROME 5; BMFS5 MONDO:0019551 hereditary motor and sensory neuropathy type 6 biolink:Disease mondo ICD10:G60.0|DOID:0080068|Orphanet:90120|UMLS:C0393807 UMLS:C0393807|DOID:0080068|ORPHA:90120 http://purl.obolibrary.org/obo/MONDO_0019551 CMT6|hereditary motor and sensory neuropathy type 6|Charcot-Marie-Tooth disease type 6|peripheral neuropathy and optic atrophy ordo_disease MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy biolink:Disease mondo UMLS:CN206379|ICD10:G60.0|Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. UMLS:CN206379|ORPHA:90119 http://purl.obolibrary.org/obo/MONDO_0019550 HMSN with acrodystrophy|autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy|AR-CMT2 with acrodystrophy|autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy ordo_disease MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits biolink:Disease mondo OMIM:618167 http://identifiers.org/omim/618167 http://purl.obolibrary.org/obo/MONDO_0032574 OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD MONDO:0019553 drug-induced localized lipodystrophy biolink:Disease mondo ICD10:E88.1|SCTID:403661001|UMLS:CN227649|Orphanet:90157 Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present. SNOMEDCT:403661001|UMLS:CN227649|ORPHA:90157 http://purl.obolibrary.org/obo/MONDO_0019553 lipoatrophy caused by injected drug ordo_disease MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type biolink:Disease mondo OMIM:618162 http://identifiers.org/omim/618162 http://purl.obolibrary.org/obo/MONDO_0032571 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK|Immunoosseous Dysplasia, Krakow Type HP:0004374 Hemiplegia/hemiparesis biolink:PhenotypicFeature mondo UMLS:C0375206 Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. http://purl.obolibrary.org/obo/HP_0004374 Paralysis or weakness of one side of body GO:0017099 very-long-chain-acyl-CoA dehydrogenase activity biolink:OntologyClass mondo Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a very long chain fatty acid residue. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22. http://purl.obolibrary.org/obo/GO_0017099 very long-chain-acyl-CoA dehydrogenase activity GO:0030073 insulin secretion biolink:OntologyClass mondo The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. http://purl.obolibrary.org/obo/GO_0030073 MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay biolink:Disease mondo OMIM:618164 http://identifiers.org/omim/618164 http://purl.obolibrary.org/obo/MONDO_0032572 CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD MONDO:0019552 centrifugal lipodystrophy biolink:Disease mondo ICD10:E88.1|Orphanet:90156 Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving. ORPHA:90156 http://purl.obolibrary.org/obo/MONDO_0019552 lipodystrophia centrifugalis abdominalis infantilis ordo_disease HGNC:20422 POLR1D biolink:OntologyClass mondo http://identifiers.org/hgnc/20422 HGNC:20423 SPATA7 biolink:OntologyClass mondo http://identifiers.org/hgnc/20423 MONDO:0007579 esterase C biolink:Disease mondo OMIM:133270 http://identifiers.org/omim/133270 http://purl.obolibrary.org/obo/MONDO_0007579 esterase type C|esterase C|esterase C; ESC|ESC MONDO:0032579 warburg-cinotti syndrome biolink:Disease mondo OMIM:618175 http://identifiers.org/omim/618175 http://purl.obolibrary.org/obo/MONDO_0032579 WARBURG-CINOTTI SYNDROME; WRCN UBERON:0004190 renal glomerulus vasculature biolink:AnatomicalEntity mondo The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus http://purl.obolibrary.org/obo/UBERON_0004190 vascular network of renal glomerulus|glomerulus vasculature|renal glomerulus vasculature|renal glomerulus vascular network|vasculature of renal glomerulus MONDO:0007577 esophageal ring, lower biolink:Disease mondo OMIM:133240|SCTID:235623002|UMLS:C0341137|ICD9:750.3|MESH:C562765 UMLS:C0341137|http://identifiers.org/omim/133240|SNOMEDCT:235623002|MESH:C562765 http://purl.obolibrary.org/obo/MONDO_0007577 esophageal ring, lower MONDO:0020533 streptobacillary rat-bite fever biolink:Disease mondo DOID:13238|ICD10:A25.1|Orphanet:99905|UMLS:C0152063|ICD9:026.1|SCTID:52138004|UMLS:CN207435 Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats. UMLS:C0152063|SNOMEDCT:52138004|ORPHA:99905|DOID:13238|UMLS:CN207435 http://purl.obolibrary.org/obo/MONDO_0020533 streptobacillary rat-bite fever|Streptobacillosis|Streptobacillary fever|Haverhill fever ordo_etiological_subtype MONDO:0007578 esterase B biolink:Disease mondo OMIM:133260 http://identifiers.org/omim/133260 http://purl.obolibrary.org/obo/MONDO_0007578 esterase type B|esterase B|ESB|esterase B; ESB MONDO:0020532 spirillary rat-bite fever biolink:Disease mondo ICD9:026.0|SCTID:19044004|Orphanet:99903|ICD10:A25.0|DOID:12096 Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia. SNOMEDCT:19044004|ORPHA:99903|DOID:12096 http://purl.obolibrary.org/obo/MONDO_0020532 Spirillary fever|spirillosis|sodoku disease|sodoku ordo_etiological_subtype MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency biolink:Disease mondo MESH:C535690|GARD:0009700|UMLS:C0220711|ICD10:E71.3|SCTID:237996001|Orphanet:99900|NCIT:C84537 A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. UMLS:C0220711|NCIT:C84537|SNOMEDCT:237996001|ORPHA:99900|MESH:C535690 http://purl.obolibrary.org/obo/MONDO_0020531 inborn long-chain-acyl-CoA dehydrogenase activity disorder|LCAD|long-chain acyl-CoA dehydrogenase deficiency|inborn error of long-chain-acyl-CoA dehydrogenase activity|rare inborn error of long-chain-acyl-CoA dehydrogenase activity|acyl-CoA dehydrogenase, long-chain deficiency|rare inborn error of long-chain-acyl-CoA dehydrogenase activity|long-chain acyl-Coenzyme A dehydrogenase deficiency|ACADL deficiency|LCAD deficiency ordo_disease GO:0140513 nuclear protein-containing complex biolink:OntologyClass mondo A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together in the nucleus. http://purl.obolibrary.org/obo/GO_0140513 nuclear complex MONDO:0007575 obsolete erythrokeratodermia variabilis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007575 MONDO:0020530 mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency biolink:Disease mondo GARD:0003011|MESH:C535530|Orphanet:99898|ICD10:D84.8|UMLS:C2930924 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). UMLS:C2930924|ORPHA:99898|MESH:C535530 http://purl.obolibrary.org/obo/MONDO_0020530 interferon gamma, receptor 1, deficiency|MSMD due to complete interferon gamma receptor 1 deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|IFNGR1 deficiency|MSMD due to complete IFNgammaR1 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1 ordo_disease|predisposition MONDO:0007576 esophageal cancer biolink:Disease mondo ICD9:150.5|ICD9:150.4|COHD:4092060|ICD9:150.9|ICD9:150.3|UMLS:C0546837|DOID:5041|OMIM:133239|GARD:0006383|ICD10:C15.5|ICD10:C15.4|NCIT:C7478|ICD10:C15.3|ICD9:150.8|ICD9:150.2|SCTID:363402007 A primary or metastatic malignant neoplasm involving the esophagus. NCIT:C7478|http://identifiers.org/omim/133239|SNOMEDCT:363402007|UMLS:C0546837|DOID:5041 http://purl.obolibrary.org/obo/MONDO_0007576 malignant neoplasm of middle third of oesophagus|malignant tumor of proximal third of esophagus|cancer of esophagus|Escc, susceptibility to|esophagus cancer|malignant esophageal tumor|malignant neoplasm of distal third of esophagus|Ca middle third oesophagus|malignant tumor of abdominal esophagus|malignant neoplasm of lower third of oesophagus|malignant neoplasm of esophagus|malignant neoplasm of the esophagus|malignant esophagus tumor|gastric cardia adenocarcinoma, susceptibility to|malignant neoplasm of proximal third of esophagus|malignant tumor of distal third of esophagus|malignant tumor of the middle third of the esophagus|malignant esophagus neoplasm|Ca lower third oesophagus|esophageal squamous cell carcinoma, susceptibility to|esophageal cancer|malignant tumor of the esophagus|malignant tumor of esophagus|Aerodigestive tract cancer, susceptibility to|malignant neoplasm of upper third esophagus|malignant esophageal neoplasm MONDO:0007573 acute erythroleukemia, familial biolink:Disease mondo EFO:0000218|OMIM:133180|ICD9:207.0|MESH:C565039 An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome. http://identifiers.org/omim/133180|MESH:C565039 http://purl.obolibrary.org/obo/MONDO_0007573 ERYTHROLEUKEMIA, familial|hereditary acute erythroid leukemia|leukemia, acute myelogenous, M6|Di Guglielmo disease, familial MONDO:0007574 spinocerebellar ataxia type 34 biolink:Disease mondo DOID:0050981|SCTID:719255000|MESH:C535738|Orphanet:1955|ICD10:G11.1|UMLS:C1851481|OMIM:133190|GARD:0000059 Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. DOID:0050981|MESH:C535514|MESH:C535738|http://identifiers.org/omim/133190|SNOMEDCT:719255000|UMLS:C1851481|UMLS:C2930921|ORPHA:1955 http://purl.obolibrary.org/obo/MONDO_0007574 spinocerebellar ataxia 34|Giroux Barbeau syndrome|spinocerebellar ataxia type 34|erythrokeratodermia with ataxia|erythrokeratodermia - ataxia|spinocerebellar ataxia 34; SCA34|SCA34|spinocerebellar ataxia and erythrokeratodermia ordo_disease|gard_rare MONDO:0007571 primary erythermalgia biolink:Disease mondo NCIT:C125383|GARD:0006377|OMIM:133020|UMLS:C0014805|SCTID:709489006|Orphanet:90026|ICD10:I73.8 Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder. SNOMEDCT:709489006|http://identifiers.org/omim/133020|NCIT:C125383|ORPHA:90026|UMLS:C0014805 http://purl.obolibrary.org/obo/MONDO_0007571 PERYTHM|erythromelalgia, primary|erythromelalgia, familial|Mitchell disease (formerly)|erythermalgia, primary|primary erythromelalgia|neuropathy, small Fiber ordo_disease MONDO:0007572 primary familial polycythemia due to EPO receptor mutation biolink:Disease mondo SCTID:17342003|GARD:0009843|ICD10:D75.0|Orphanet:90042|OMIM:133100|ICD9:289.6|DOID:0060652 Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. http://identifiers.org/omim/133100|DOID:0060652|ORPHA:90042|SNOMEDCT:17342003 http://purl.obolibrary.org/obo/MONDO_0007572 erythrocytosis, familial, 1; ECYT1|primary congenital erythrocytosis|polycythemia, primary familial and congenital|erythrocytosis, familial, 1|familial erythrocytosis, 1|erythrocytosis familial, 1|familial erythrocytosis 1|congenital polycythemia due to erythropoietin receptor mutation|autosomal dominant benign erythrocytosis|erythrocytosis, autosomal dominant benign|primary familial polycythemia|primary familial and congenital polycythemia|PFCP|familial erythrocytosis type 1|EPOR familial polycythemia|ECYT1|congenital erythrocytosis due to erythropoietin receptor mutation|familial polycythemia caused by mutation in EPOR|erythrocytosis autosomal dominant benign|erythrocytosis, familial, type 1|familial erythrocytosis ordo_disease|gard_rare MONDO:0032580 nephrotic syndrome, type 17 biolink:Disease mondo OMIM:618176 http://identifiers.org/omim/618176 http://purl.obolibrary.org/obo/MONDO_0032580 NEPHROTIC SYNDROME, TYPE 17; NPHS17 UBERON:0004198 comma-shaped body biolink:AnatomicalEntity mondo The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron http://purl.obolibrary.org/obo/UBERON_0004198 CSB MONDO:0007570 erythema palmare hereditarium biolink:Disease mondo UMLS:C1851502|MESH:C565041|OMIM:133000|Orphanet:231031|SCTID:763767006|ICD10:L59.8 Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient. SNOMEDCT:763767006|http://identifiers.org/omim/133000|UMLS:C1851502|ORPHA:231031|MESH:C565041 http://purl.obolibrary.org/obo/MONDO_0007570 lane disease|erythema palmare hereditarium|Red palms disease ordo_disease MONDO:0020529 ACTH-independent Cushing syndrome biolink:Disease mondo Orphanet:99893|ICD10:E24.8|UMLS:CN207429 Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). ORPHA:99893|UMLS:CN207429 http://purl.obolibrary.org/obo/MONDO_0020529 corticotropin-independent Cushing syndrome|adrenocorticotropic hormone-independent Cushing syndrome|adrenal Cushing syndrome ordo_group_of_disorders MONDO:0032581 nephrotic syndrome, type 18 biolink:Disease mondo OMIM:618177 http://identifiers.org/omim/618177 http://purl.obolibrary.org/obo/MONDO_0032581 NEPHROTIC SYNDROME, TYPE 18; NPHS18 UBERON:0004199 S-shaped body biolink:AnatomicalEntity mondo The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron http://purl.obolibrary.org/obo/UBERON_0004199 stage II nephron|SSB MONDO:0020528 ACTH-dependent Cushing syndrome biolink:Disease mondo SCTID:190502001|EFO:1001110|DOID:3946|MedDRA:10035109|Orphanet:99892|ICD10:E24.0|MESH:D047748|UMLS:C0342442|SCTID:237734007 Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). UMLS:C0342442|SNOMEDCT:237734007|DOID:3946|SNOMEDCT:190502001|MESH:D047748|ORPHA:99892 http://purl.obolibrary.org/obo/MONDO_0020528 corticotropin-dependent Cushing syndrome|ACTH-dependent CS|adrenocorticotropic hormone-dependent Cushing syndrome|adrenocorticotropic hormone, inappropriate secretion|pituitary-dependent Cushing's disease|pituitary Cushing disease|pituitary Cushing diseases|ACTH hypersecretion, pituitary|overproduction of ACTH|pituitary-dependent Cushing disease|pituitary Cushing syndrome ordo_group_of_disorders MONDO:0020527 ectopic Cushing syndrome biolink:Disease mondo UMLS:CN207427|DOID:0060890|ICD10:E24.3|Orphanet:99889 Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor. UMLS:CN207427|DOID:0060890|ORPHA:99889 http://purl.obolibrary.org/obo/MONDO_0020527 Cushing syndrome due to ectopic ACTH secretion|ectopic ACTH secreting tumor|occult ectopic ACTH secretion|paraneoplastic Cushing syndrome|adrenocorticotropic hormone secretion syndrome|ectopic Cushing syndrome ordo_disease MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease biolink:Disease mondo UMLS:CN206376|ICD10:G60.0|GARD:0012436|Orphanet:90114 Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. ORPHA:90114|UMLS:CN206376 http://purl.obolibrary.org/obo/MONDO_0019548 CMTDI|intermediate Charcot-Marie-Tooth disease, autosomal dominant|autosomal dominant intermediate Charcot-Marie-Tooth disease|autosomal dominant intermediate Charcot-Marie-Tooth ordo_group_of_disorders MONDO:0020526 acute megakaryoblastic leukemia in down syndrome biolink:Disease mondo UMLS:CN207426|Orphanet:99887|ICD10:C94.2 UMLS:CN207426|ORPHA:99887 http://purl.obolibrary.org/obo/MONDO_0020526 DS-AMKL ordo_clinical_subtype MONDO:0019547 Wells syndrome biolink:Disease mondo Orphanet:901|ICD10:L98.3|MESH:C536693|ICD9:682.9|GARD:0000329|UMLS:C0343101|SCTID:238931006 Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia. UMLS:C0343101|MESH:C536693|ORPHA:901|SNOMEDCT:238931006 http://purl.obolibrary.org/obo/MONDO_0019547 bullous cellulitis with eosinophilia|eosinophilic cellulitis|Wells' syndrome ordo_disease|gard_rare MONDO:0020525 transient neonatal diabetes mellitus (disease) biolink:Disease mondo ICD10:P70.2|SCTID:237603002|GARD:0001839|NCIT:C114899|Orphanet:99886|HP:0008255|DOID:0060334 Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients. DOID:0060334|NCIT:C114899|ORPHA:99886|SNOMEDCT:237603002 http://purl.obolibrary.org/obo/MONDO_0020525 diabetes mellitus, 6q24-related transient neonatal|chromosome 6-associated transient diabetes mellitus|diabetes mellitus, transient neonatal|transient neonatal diabetes mellitus|TNDM ordo_disease MONDO:0020524 primary parathyroid hyperplasia biolink:Disease mondo ICD10:E21.0|Orphanet:99878 ORPHA:99878 http://purl.obolibrary.org/obo/MONDO_0020524 hereditary parathyroids hyperplasia|familial parathyroids hyperplasia ordo_disease HGNC:19439 KCNK18 biolink:OntologyClass mondo http://identifiers.org/hgnc/19439 MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency biolink:Disease mondo SCTID:766977007|ICD10:G60.0|UMLS:CN206378|Orphanet:90118 10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. ORPHA:90118|UMLS:CN206378|SNOMEDCT:766977007 http://purl.obolibrary.org/obo/MONDO_0019549 autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type|AR-CMT2, Ouvrier type|SEOAN due to MFN2 deficiency ordo_disease MONDO:0020523 familial parathyroid adenoma biolink:Disease mondo UMLS:C1840403|ICD10:E21.0|Orphanet:99877 An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome. UMLS:C1840403|ORPHA:99877|MESH:C564166 http://purl.obolibrary.org/obo/MONDO_0020523 hereditary parathyroid gland adenoma ordo_disease MONDO:0019544 cocaine intoxication biolink:Disease mondo ICD9:292.89|SCTID:27956007|ICD10:T40.5|Orphanet:90068 SNOMEDCT:27956007|ORPHA:90068 http://purl.obolibrary.org/obo/MONDO_0019544 ordo_disease MONDO:0032588 periventricular nodular heterotopia 8 biolink:Disease mondo OMIM:618185 http://identifiers.org/omim/618185 http://purl.obolibrary.org/obo/MONDO_0032588 PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8 MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage biolink:Disease mondo Orphanet:90065|ICD10:I60.9|UMLS:CN206370 Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures. UMLS:CN206370|ORPHA:90065 http://purl.obolibrary.org/obo/MONDO_0019543 ordo_clinical_situation HP:0004381 Supravalvular aortic stenosis biolink:PhenotypicFeature mondo SNOMEDCT_US:268185002|UMLS:C0003499|MSH:D021921|Fyler:1430 A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. http://purl.obolibrary.org/obo/HP_0004381 MONDO:0032586 diarrhea 10, protein-losing enteropathy type biolink:Disease mondo OMIM:618183 http://identifiers.org/omim/618183 http://purl.obolibrary.org/obo/MONDO_0032586 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE; DIAR10 MONDO:0019546 other acquired skin disease biolink:Disease mondo Orphanet:90077|UMLS:CN206373 UMLS:CN206373|ORPHA:90077 http://purl.obolibrary.org/obo/MONDO_0019546 ordo_group_of_disorders|obsoletion_candidate MONDO:0019545 systemic monochloroacetate poisoning biolink:Disease mondo ICD10:T60.3|Orphanet:90069 Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. ORPHA:90069 http://purl.obolibrary.org/obo/MONDO_0019545 ordo_disease MONDO:0019540 diffuse alveolar hemorrhage (disease) biolink:Disease mondo ICD10:J98.4|UMLS:CN206369|Orphanet:90060|HP:0025420 UMLS:CN206369|ORPHA:90060 http://purl.obolibrary.org/obo/MONDO_0019540 diffuse alveolar hemorrhage ordo_clinical_situation MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis biolink:Disease mondo OMIM:618180 http://identifiers.org/omim/618180 http://purl.obolibrary.org/obo/MONDO_0032584 ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14 MONDO:0019542 acute liver failure biolink:Disease mondo SCTID:197270009|Orphanet:90062|MedDRA:10000804|NCIT:C84396|ICD10:K72.0|MESH:D017114|UMLS:C0162557 Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections. UMLS:C0162557|SNOMEDCT:197270009|MESH:D017114|NCIT:C84396|MEDDRA:10000804|ORPHA:90062 http://purl.obolibrary.org/obo/MONDO_0019542 acute hepatic failure|fulminant hepatic failure ordo_clinical_situation MONDO:0032582 nephrotic syndrome, type 19 biolink:Disease mondo OMIM:618178 http://identifiers.org/omim/618178 http://purl.obolibrary.org/obo/MONDO_0032582 NEPHROTIC SYNDROME, TYPE 19; NPHS19 MONDO:0019541 non-infectious posterior uveitis biolink:Disease mondo Orphanet:90061|ICD10:H30.1|ICD10:H30.0 ORPHA:90061 http://purl.obolibrary.org/obo/MONDO_0019541 non-infectious choroiditis ordo_group_of_disorders MONDO:0032583 microcephaly 24, primary, autosomal recessive biolink:Disease mondo OMIM:618179 http://identifiers.org/omim/618179 http://purl.obolibrary.org/obo/MONDO_0032583 MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24 FOODON:03411134 mammal biolink:OntologyClass mondo Mammals (from Latin mamma "breast") are vertebrate animals constituting the class Mammalia, and characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or hair, and three middle ear bones. http://purl.obolibrary.org/obo/FOODON_03411134 HP:0031983 Abnormal pulmonary thoracic imaging finding biolink:PhenotypicFeature mondo This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. http://purl.obolibrary.org/obo/HP_0031983 Abnormal chest radiograph finding (lung) GO:0030057 desmosome biolink:OntologyClass mondo A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism. http://purl.obolibrary.org/obo/GO_0030057 macula adherens|spot desmosome GO:0030054 cell junction biolink:OntologyClass mondo A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. http://purl.obolibrary.org/obo/GO_0030054 MONDO:0020591 disease of peritoneum biolink:Disease mondo NCIT:C26848|SCTID:66579008|MESH:D010532|UMLS:C0031142 A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. SNOMEDCT:66579008|MESH:D010532|NCIT:C26848|UMLS:C0031142 http://purl.obolibrary.org/obo/MONDO_0020591 disorder of peritoneum|peritoneal disorder|disease or disorder of peritoneum|disease of peritoneum|peritoneal disease|peritoneum disease|peritoneum disease or disorder MONDO:0020590 mycobacterial infectious disease biolink:Disease mondo UMLS:C0026918|MESH:D009164|SCTID:88415009|NCIT:C26831 Infection due to organisms from the genus Mycobacteria. SNOMEDCT:88415009|NCIT:C26831|MESH:D009164|UMLS:C0026918 http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infection|mycobacterium infection|mycobacteriosis FOODON:03411142 aquatic invertebrate animal (excluding shellfish) biolink:OntologyClass mondo Aquatic animals other than fish and shellfish http://purl.obolibrary.org/obo/FOODON_03411142 MONDO:0020599 acquired coagulation factor deficiency biolink:Disease mondo SCTID:25904003|NCIT:C34347|UMLS:C0001169 Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. UMLS:C0001169|NCIT:C34347|SNOMEDCT:25904003 http://purl.obolibrary.org/obo/MONDO_0020599 acquired coagulation factor deficiency|acquired coagulation protein disease MONDO:0020598 malabsorption syndrome biolink:Disease mondo SCTID:32230006|MESH:D008286|UMLS:C0024523|NCIT:C3214 A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. MESH:D008286|UMLS:C0024523|NCIT:C3214|SNOMEDCT:32230006 http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome|malabsorption MONDO:0020597 angiokeratoma of scrotum biolink:Disease mondo SCTID:735082004|NCIT:C7752 An angiokeratoma that is located on the scrotum. SNOMEDCT:735082004|NCIT:C7752 http://purl.obolibrary.org/obo/MONDO_0020597 angiokeratoma of the scrotum|scrotum angiokeratoma|angiokeratoma of fordyce|angiokeratoma of scrotum|scrotal fordyce-type angiokeratoma|scrotal angiokeratoma|fordyce angiokeratoma|fordyce-type angiokeratoma of the scrotum|fordyce-type angiokeratoma of scrotum MONDO:0020596 mucin-producing carcinoma biolink:Disease mondo NCIT:C27825 NCIT:C27825 http://purl.obolibrary.org/obo/MONDO_0020596 mucin-producing carcinoma MONDO:0020595 disease of retroperitoneum biolink:Disease mondo SCTID:734045002|NCIT:C27667 A disease or disorder that involves the retroperitoneal space. NCIT:C27667|SNOMEDCT:734045002 http://purl.obolibrary.org/obo/MONDO_0020595 retroperitoneal disease|disease or disorder of retroperitoneal space|retroperitoneal space disease or disorder|retroperitoneal space disease|disease of retroperitoneal space|disorder of retroperitoneal space|retroperitoneal disorder MONDO:0020594 abducens nerve disease biolink:Disease mondo SCTID:398925009|NCIT:C27593 A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve). NCIT:C27593|SNOMEDCT:398925009 http://purl.obolibrary.org/obo/MONDO_0020594 abducens nerve disease|abducens nerve disease or disorder|VIth nerve disorder|abducens nerve disorder|disorder of abducens nerve|disease of abducens nerve|disease or disorder of abducens nerve MONDO:0020593 trichoblastoma biolink:Disease mondo ICDO:8100/0|NCIT:C27132 A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty. NCIT:C27132 http://purl.obolibrary.org/obo/MONDO_0020593 trichogenic trichoblastoma|trichoepithelioma, benign|trichoblastoma|Brooke's tumor|trichoepithelioma|trichogenic adnexal tumor MONDO:0020592 disease of pharynx biolink:Disease mondo NCIT:C26850|SCTID:75860007|GARD:0007266 A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma. SNOMEDCT:75860007|NCIT:C26850 http://purl.obolibrary.org/obo/MONDO_0020592 chordate pharynx disease or disorder|chordate pharynx disease|disorder of chordate pharynx|pharyngeal disorder|disease of chordate pharynx|pharyngeal disease|disease or disorder of chordate pharynx OBO:mondo#may_be_merged_into may_be_merged_into biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#may_be_merged_into MONDO:0020589 cardiac germ cell tumor biolink:Disease mondo NCIT:C147005 A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors. NCIT:C147005 http://purl.obolibrary.org/obo/MONDO_0020589 cardiac germ cell tumor|heart germ cell tumor HGNC:19414 DPY19L2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19414 HGNC:19412 ZMYND10 biolink:OntologyClass mondo http://identifiers.org/hgnc/19412 MONDO:0019591 panhypopituitarism biolink:Disease mondo NCIT:C110940|MedDRA:10033662|Orphanet:90695|ICD9:253.2|COHD:30365|UMLS:C0242343|SCTID:32390006|ICD10:E23.0|DOID:9410 Insufficient production of all the anterior pituitary hormones. UMLS:C0242343|NCIT:C110940|SNOMEDCT:32390006|ORPHA:90695|MEDDRA:10033662|DOID:9410 http://purl.obolibrary.org/obo/MONDO_0019591 Simmonds' disease|Simmond's disease|complete hypopituitarism ordo_disease MONDO:0020580 germinomatous germ cell tumor biolink:Disease mondo NCIT:C121618|UMLS:C4054897 A term that refers to germinoma, seminoma, or dysgerminoma. NCIT:C121618|UMLS:C4054897 http://purl.obolibrary.org/obo/MONDO_0020580 germinomatous germ cell tumor MONDO:0019590 rare endocrine growth disease biolink:Disease mondo UMLS:CN206437|Orphanet:90692 ORPHA:90692|UMLS:CN206437 http://purl.obolibrary.org/obo/MONDO_0019590 obsoletion_candidate|ordo_group_of_disorders MONDO:0019593 46,XX disorder of sex development induced by fetal androgens excess biolink:Disease mondo Orphanet:90776|ICD10:E25.0|UMLS:CN227655 UMLS:CN227655|ORPHA:90776 http://purl.obolibrary.org/obo/MONDO_0019593 46,XX DSD induced by fetal androgens excess ordo_group_of_disorders MONDO:0019592 obsolete disorder of sex development biolink:Disease mondo In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. http://purl.obolibrary.org/obo/MONDO_0019592 MONDO:0032526 spinocerebellar ataxia 48 biolink:Disease mondo OMIM:618093 http://identifiers.org/omim/618093 http://purl.obolibrary.org/obo/MONDO_0032526 SPINOCEREBELLAR ATAXIA 48; SCA48 MONDO:0020588 lung PEComa biolink:Disease mondo NCIT:C142783 A lung tumor that arises from perivascular epithelioid cells (PECs). NCIT:C142783 http://purl.obolibrary.org/obo/MONDO_0020588 lung pecomatous tumor|lung PEComa MONDO:0020587 factor XI deficiency biolink:Disease mondo NCIT:C131739|SCTID:767713001 A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. NCIT:C131739|SNOMEDCT:767713001 http://purl.obolibrary.org/obo/MONDO_0020587 factor XI deficiency MONDO:0020586 factor V deficiency biolink:Disease mondo NCIT:C131738|SCTID:4320005 A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. SNOMEDCT:4320005|NCIT:C131738 http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency MONDO:0020585 anemia due to erythrocyte enzyme disorder biolink:Disease mondo UMLS:C4329304|NCIT:C131630 Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis. UMLS:C4329304|NCIT:C131630 http://purl.obolibrary.org/obo/MONDO_0020585 anemia due to erythrocyte enzyme disorder MONDO:0020584 anemia due to enzyme disorder biolink:Disease mondo NCIT:C35472|UMLS:C0494226 Any form of anemia that results from the absence of, or the defective action of, any enzyme. NCIT:C35472|UMLS:C0494226 http://purl.obolibrary.org/obo/MONDO_0020584 anemia due to enzyme disorder MONDO:0020583 chromosome 17 abnormality biolink:Disease mondo NCIT:C129438 An irregularity in the structure of chromosome 17. NCIT:C129438 http://purl.obolibrary.org/obo/MONDO_0020583 chromosome 17 abnormality MONDO:0020582 benign uterine ligament neoplasm biolink:Disease mondo NCIT:C126493|UMLS:C0865093 A non-metastasizing neoplasm that arises from the uterine ligament. UMLS:C0865093|NCIT:C126493 http://purl.obolibrary.org/obo/MONDO_0020582 benign uterine ligament neoplasm MONDO:0020581 benign PEComa biolink:Disease mondo UMLS:C3839685|NCIT:C121791 A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. NCIT:C121791|UMLS:C3839685 http://purl.obolibrary.org/obo/MONDO_0020581 typical PEComa|benign PEComa, not otherwise specified|neoplasm with perivascular epithelioid cell differentiation, benign|benign PEComa|benign PEComa, nos|benign neoplasm with perivascular epithelioid cell differentiation MONDO:0020579 mucositis biolink:Disease mondo NCIT:C115965 Inflammation of the mucous membranes. NCIT:C115965 http://purl.obolibrary.org/obo/MONDO_0020579 mucosa inflammation|inflammation of mucosa|mucositis MONDO:0020578 obsolete vitamin D deficiency biolink:Disease mondo NCIT:C114830 Abnormally low level of 25-hydroxyvitamin D in the blood. NCIT:C114830 http://purl.obolibrary.org/obo/MONDO_0020578 vitamin D deficiency MONDO:0019599 primary lipodystrophy biolink:Disease mondo ICD10:E88.1|Orphanet:90970 Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy). ORPHA:90970 http://purl.obolibrary.org/obo/MONDO_0019599 ordo_group_of_disorders MONDO:0019598 obsolete fragile X syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019598 GO:0030031 cell projection assembly biolink:OntologyClass mondo Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0030031 cell projection biogenesis|formation of a cell surface projection MONDO:0019595 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect biolink:Disease mondo Orphanet:90786|UMLS:CN227657 UMLS:CN227657|ORPHA:90786 http://purl.obolibrary.org/obo/MONDO_0019595 46,XY DSD due to adrenal and testicular steroidogenesis defect ordo_group_of_disorders MONDO:0019594 46,XY disorder of sex development due to a testosterone synthesis defect biolink:Disease mondo Orphanet:90783|UMLS:CN227656 UMLS:CN227656|ORPHA:90783 http://purl.obolibrary.org/obo/MONDO_0019594 46,XY DSD due to a testosterone synthesis defect ordo_group_of_disorders MONDO:0019597 46,XY disorder of sex development due to isolated 17,20-lyase deficiency biolink:Disease mondo Orphanet:90796|ICD10:E29.1|UMLS:CN206443 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. ORPHA:90796|UMLS:CN206443 http://purl.obolibrary.org/obo/MONDO_0019597 ordo_disease GO:0030030 cell projection organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0030030 cell surface structure organization and biogenesis|cell projection organization and biogenesis|cell projection organisation MONDO:0019596 46,XY disorder of sex development due to testicular steroidogenesis defect biolink:Disease mondo Orphanet:90787|UMLS:CN227658|ICD10:E29.1 UMLS:CN227658|ORPHA:90787 http://purl.obolibrary.org/obo/MONDO_0019596 46,XY DSD due to testicular steroidogenesis defect ordo_group_of_disorders MONDO:0019580 papular mucinosis of infancy biolink:Disease mondo SCTID:717259002|UMLS:C4273966|Orphanet:90395|ICD10:L98.5 Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. SNOMEDCT:717259002|ORPHA:90395|UMLS:C4273966 http://purl.obolibrary.org/obo/MONDO_0019580 cutaneous mucinosis of infancy ordo_disease CHEBI:139590 primary alpha-hydroxy ketone biolink:ChemicalSubstance mondo An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH2 (methylene) group. http://purl.obolibrary.org/obo/CHEBI_139590 primary alpha-hydroxy-ketone|primary alpha-hydroxyketones|primary alpha-hydroxyketone|primary alpha-hydroxy-ketones|primary alpha-hydroxy ketones MONDO:0019582 self-healing papular mucinosis biolink:Disease mondo ICD10:L98.5|Orphanet:90397 Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness. ORPHA:90397 http://purl.obolibrary.org/obo/MONDO_0019582 ordo_disease MONDO:0019581 acral persistent papular mucinosis biolink:Disease mondo ICD10:L98.5|ICD9:701.8|Orphanet:90396|SCTID:238949006|UMLS:C0406660 Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms. SNOMEDCT:238949006|ORPHA:90396|UMLS:C0406660 http://purl.obolibrary.org/obo/MONDO_0019581 ordo_disease CHEBI:139592 tertiary alpha-hydroxy ketone biolink:ChemicalSubstance mondo An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy-ketone|tertiary alpha-hydroxyketones|tertiary alpha-hydroxyketone|tertiary alpha-hydroxy-ketones|tertiary alpha-hydroxy ketones GO:0032689 negative regulation of interferon-gamma production biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/GO_0032689 down regulation of interferon-gamma production|inhibition of interferon-gamma production|negative regulation of interferon-gamma biosynthetic process|downregulation of interferon-gamma production|negative regulation of type II interferon production|negative regulation of interferon-gamma secretion|down-regulation of interferon-gamma production UBERON_CORE:transitively_distally_connected_to transitively distally connected to biolink:OntologyClass mondo . http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to MONDO:0020577 childhood gonadal germ cell tumor biolink:Disease mondo UMLS:C3899657|NCIT:C114801 A germ cell tumor that arises from the testis or ovary and occurs during childhood. UMLS:C3899657|NCIT:C114801 http://purl.obolibrary.org/obo/MONDO_0020577 gonadal germ cell tumor of childhood|pediatric gonadal germ cell tumor|pediatric gonadal germ cell tumor|childhood gonadal germ cell tumor MONDO:0020576 cutaneous vasculitis biolink:Disease mondo NCIT:C112210|UMLS:C0262988 Inflammation of the blood vessel wall characterized by palpable purpura. NCIT:C112210|UMLS:C0262988 http://purl.obolibrary.org/obo/MONDO_0020576 cutaneous vasculitis MONDO:0020575 polymorphic ventricular tachycardia biolink:Disease mondo UMLS:C0344432|SCTID:251159007|NCIT:C111648|HP:0031677 A ventricular tachycardia that is irregular in rate and rhythm. UMLS:C0344432|SNOMEDCT:251159007|NCIT:C111648 http://purl.obolibrary.org/obo/MONDO_0020575 ventricular tachycardia, polymorphic|polymorphic ventricular tachycardia MONDO:0020574 central nervous system nongerminomatous germ cell tumor biolink:Disease mondo NCIT:C100093|UMLS:C1696109 Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor. NCIT:C100093|UMLS:C1696109 http://purl.obolibrary.org/obo/MONDO_0020574 central nervous system nongerminomatous germ cell tumor|nongerminomatous GCT - CNS|nongerminomatous germ cell tumor of the CNS MONDO:0020573 inherited disease susceptibility biolink:Disease mondo MESH:D020022 A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. MESH:D020022 http://purl.obolibrary.org/obo/MONDO_0020573 genetic susceptibilities|susceptibilities, genetic|genetic predisposition|susceptibility, genetic|genetic predispositions|hereditary predisposition to disease|predispositions, genetic|hereditary disease susceptibility|genetic susceptibility|predisposition, genetic predisposition MONDO:0020572 complex regional pain syndrome type 2 biolink:Disease mondo MESH:D002422|UMLS:C0007462|ICD10:G56.4|SCTID:408751001|MedDRA:10007825|Orphanet:99994|DOID:3222|MedDRA:10064335|NCIT:C121572|EFO:1000854 Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area. MESH:D002422|NCIT:C121572|ORPHA:99994|MEDDRA:10064335|DOID:3222|UMLS:C0007462|SNOMEDCT:408751001 http://purl.obolibrary.org/obo/MONDO_0020572 Complex regional pain syndrome II|Complex regional pain syndrome, type II|causalgia|CRPS II ordo_clinical_subtype MONDO:0020571 relapsing epidemic typhus biolink:Disease mondo UMLS:CN207497|Orphanet:99991|ICD10:A75.0 ORPHA:99991|UMLS:CN207497 http://purl.obolibrary.org/obo/MONDO_0020571 ordo_clinical_subtype MONDO:0020570 obsolete Brill-Zinsser disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020570 MONDO:0020569 intermediate DEND syndrome biolink:Disease mondo UMLS:CN207495|Orphanet:99989 Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy. ORPHA:99989|UMLS:CN207495 http://purl.obolibrary.org/obo/MONDO_0020569 developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form ordo_clinical_subtype MONDO:0020568 cutaneous myiasis biolink:Disease mondo SCTID:240877000|ICD10:B87.0|UMLS:C0027031|Orphanet:99983 UMLS:C0027031|ORPHA:99983|SNOMEDCT:240877000 http://purl.obolibrary.org/obo/MONDO_0020568 ordo_group_of_disorders MONDO:0020567 apnea of prematurity biolink:Disease mondo SCTID:276544005|ICD10:P28.4|Orphanet:99981 Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases. SNOMEDCT:276544005|ORPHA:99981|UMLS:C0475715 http://purl.obolibrary.org/obo/MONDO_0020567 ordo_clinical_subtype MONDO:0019588 autosomal recessive nonsyndromic deafness biolink:Disease mondo MESH:C564609|OMIM:607197|UMLS:C1846647|GARD:0001710|DOID:0050565|DC:0000110|OMIMPS:220290|ICD10:H90.3|UMLS:CN206424|Orphanet:90636 Autosomal recessive form of nonsyndromic deafness. UMLS:CN206424|UMLS:C1846647|http://identifiers.org/omim/607197|ORPHA:90636|DOID:0050565|MESH:C564609 http://purl.obolibrary.org/obo/MONDO_0019588 autosomal recessive non-syndromic sensorineural deafness type DFNB|nonsyndromic deafness, autosomal recessive|autosomal recessive non-syndromic neurosensory deafness type DFNB|autosomal recessive isolated sensorineural deafness type DFNB|autosomal recessive nonsyndromic genetic deafness|nonsyndromic genetic deafness, autosomal recessive|autosomal recessive isolated neurosensory deafness type DFNB|deafness, neurosensory nonsyndromic recessive, DFN|deafness, autosomal recessive clingen|gard_rare|ordo_etiological_subtype|prototype_pattern MONDO:0019587 autosomal dominant nonsyndromic deafness biolink:Disease mondo OMIMPS:124900|DOID:0050564|ICD10:H90.3|Orphanet:90635|UMLS:CN043649 Autosomal dominant form of nonsyndromic deafness. ORPHA:90635|DOID:0050564|UMLS:CN043649 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant non-syndromic neurosensory hearing loss type DFNA|deafness, autosomal dominant|nonsyndromic deafness, autosomal dominant|autosomal dominant isolated sensorineural hearing loss type DFNA|autosomal dominant nonsyndromic deafness|autosomal dominant non-syndromic neurosensory deafness type DFNA|autosomal dominant non-syndromic sensorineural deafness type DFNA|autosomal dominant isolated sensorineural deafness type DFNA|autosomal dominant nonsyndromic genetic deafness|autosomal dominant isolated deafness|nonsyndromic genetic deafness, autosomal dominant|autosomal dominant nonsyndromic hearing loss and deafness|autosomal dominant isolated neurosensory hearing loss type DFNA|autosomal dominant non-syndromic sensorineural hearing loss type DFNA|autosomal dominant nonsyndromic hearing impairment|autosomal dominant isolated neurosensory deafness type DFNA|autosomal dominant deafness clingen|ordo_etiological_subtype CHEBI:139588 alpha-hydroxy ketone biolink:ChemicalSubstance mondo An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxyketone|alpha-hydroxy-ketones|alpha-hydroxy ketones|alpha-hydroxy-ketone|alpha-hydroxyketones MONDO:0019589 syndromic genetic deafness biolink:Disease mondo SCTID:232333009|Orphanet:90642|ICD10:H90.3|UMLS:CN206426 UMLS:CN206426|SNOMEDCT:232333009|ORPHA:90642 http://purl.obolibrary.org/obo/MONDO_0019589 syndromic hearing loss ordo_group_of_disorders FOODON:03411161 cattle biolink:OntologyClass mondo Cattle (colloquially cows) are the most common type of large domesticated ungulates. They are a prominent modern member of the subfamily *Bovinae*, are the most widespread species of the genus *Bos*, and are most commonly classified collectively as *Bos taurus*... with three subspecies: *Bos taurus primigenius, Bos taurus indicus, Bos taurus taurus*. http://purl.obolibrary.org/obo/FOODON_03411161 cow|Bos taurus Linnaeus, 1758 CHEBI:139589 retinoid anion biolink:ChemicalSubstance mondo A carboxylic acid anion obtained by deprotonation of any retinoid carboxy group. http://purl.obolibrary.org/obo/CHEBI_139589 retinoid carboxylate anions|retinoid carboxylic acid anions|retinoates|retinoate|retinoid carboxylic acid anion|retinoid carboxylate anion|retinoid anions MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms biolink:Disease mondo Orphanet:90399|ICD10:L98.5 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia. ORPHA:90399 http://purl.obolibrary.org/obo/MONDO_0019584 ordo_clinical_subtype MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes biolink:Disease mondo Orphanet:90398|ICD10:L98.5 Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM. ORPHA:90398 http://purl.obolibrary.org/obo/MONDO_0019583 ordo_clinical_subtype MONDO:0019586 X-linked nonsyndromic deafness biolink:Disease mondo DOID:0050566|ICD10:H90.3|OMIMPS:304500|Orphanet:90625|UMLS:CN206422 X-linked form of nonsyndromic deafness. ORPHA:90625|DOID:0050566|UMLS:CN206422 http://purl.obolibrary.org/obo/MONDO_0019586 X-linked deafness|nonsyndromic deafness, X-linked|X-linked isolated sensorineural deafness type DFN|X-linked isolated neurosensory deafness type DFN|X-linked non-syndromic neurosensory deafness type DFN|X-linked non-syndromic sensorineural hearing loss type DFN|X-linked isolated sensorineural hearing loss type DFN|X-linked isolated neurosensory hearing loss type DFN|X-linked non-syndromic neurosensory hearing loss type DFN|X-linked nonsyndromic genetic deafness|X-linked non-syndromic sensorineural deafness type DFN|nonsyndromic genetic deafness, X-linked clingen|gard_rare MONDO:0019585 scleromyxedema without monoclonal gammopathy biolink:Disease mondo Orphanet:90400|ICD10:L98.5 Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent. ORPHA:90400 http://purl.obolibrary.org/obo/MONDO_0019585 ordo_clinical_subtype MONDO:0007629 fragile site 10Q23 biolink:Disease mondo UMLS:C1850987|OMIM:136540 http://identifiers.org/omim/136540|UMLS:C1850987 http://purl.obolibrary.org/obo/MONDO_0007629 fragile site type 10Q23|fragile site 10Q23 MONDO:0007627 focal facial dermal dysplasia type I biolink:Disease mondo Orphanet:79133|UMLS:CN776929|GARD:0008416|OMIM:136500|ICD10:Q82.8 Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia. ORPHA:79133|UMLS:CN776929|UMLS:C1744559|MESH:C537068|UMLS:C2936827|MESH:C536385|http://identifiers.org/omim/136500 http://purl.obolibrary.org/obo/MONDO_0007627 focal facial dermal dysplasia type 1|hereditary symmetrical aplastic nevi of temples|bitemporal aplasia cutis congenita|FFDD type I|FFDD, type 1|Brauer syndrome|focal facial dermal dysplasia 1, Brauer type|FFDD1|focal facial dermal dysplasia 1, Brauer type; FFDD1 ordo_clinical_subtype MONDO:0007628 foveal hypoplasia 1 biolink:Disease mondo UMLS:C3805604|GARD:0000406|OMIM:136520 Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene. UMLS:C3805604|http://identifiers.org/omim/136520 http://purl.obolibrary.org/obo/MONDO_0007628 PAX6 foveal hypoplasia|foveal hypoplasia, presenile cataract|foveal hypoplasia 1|foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract|O Donnell Pappas syndrome|foveal hypoplasia 1; FVH1|foveal hypoplasia type 1|foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts|foveal hypoplasia caused by mutation in PAX6|FVH1 MONDO:0007625 focal epithelial hyperplasia of the oral mucosa biolink:Disease mondo UMLS:C1851009|MESH:C565008|OMIM:136400 UMLS:C1851009|MESH:C565008|http://identifiers.org/omim/136400 http://purl.obolibrary.org/obo/MONDO_0007625 focal epithelial hyperplasia of the oral mucosa MONDO:0007626 familial congenital palsy of trochlear nerve biolink:Disease mondo OMIM:136480|UMLS:C1850996|MESH:C565007|Orphanet:91498|GARD:0010355|ICD10:H49.1 An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome. ORPHA:91498|UMLS:C1850996|MESH:C565007|http://identifiers.org/omim/136480 http://purl.obolibrary.org/obo/MONDO_0007626 strabismus from Superior oblique palsy|hereditary fourth cranial nerve palsy|trochlear nerve palsy, familial congenital|fourth cranial nerve palsy, familial congenital|superior oblique oculomotor palsy, familial congenital ordo_disease|gard_rare MONDO:0007623 flushing of ears and somnolence biolink:Disease mondo UMLS:C1851055|OMIM:136200 UMLS:C1851055|http://identifiers.org/omim/136200 http://purl.obolibrary.org/obo/MONDO_0007623 flushing of ears and somnolence MONDO:0007624 Flynn-Aird syndrome biolink:Disease mondo SCTID:239056006|MESH:C537066|Orphanet:2047|OMIM:136300|GARD:0002347|UMLS:C0343108|ICD10:Q87.8 Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne. ORPHA:2047|MESH:C537066|UMLS:C0343108|SNOMEDCT:239056006|http://identifiers.org/omim/136300 http://purl.obolibrary.org/obo/MONDO_0007624 Flynn-Aird syndrome|cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental|Flynn Aird syndrome ordo_disease|gard_rare MONDO:0007621 floating-Harbor syndrome biolink:Disease mondo GARD:0006455|Orphanet:2044|ICD9:759.89|MESH:C537062|SCTID:312214005|ICD10:Q87.8|OMIM:136140|UMLS:C0729582 Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. SNOMEDCT:312214005|ORPHA:2044|MESH:C537062|http://identifiers.org/omim/136140|UMLS:C0729582 http://purl.obolibrary.org/obo/MONDO_0007621 Pelletier-Leisti syndrome|short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes|floating-Harbor syndrome|FHS|FLHS|floating-HARBOR syndrome; FLHS gard_rare|ordo_malformation_syndrome NCBITaxon:81852 Enterococcaceae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_81852 MONDO:0007622 flood factor deficiency biolink:Disease mondo UMLS:C1851056|OMIM:136150|MESH:C565009 UMLS:C1851056|http://identifiers.org/omim/136150|MESH:C565009 http://purl.obolibrary.org/obo/MONDO_0007622 flood factor deficiency HP:0004319 Decreased circulating aldosterone level biolink:PhenotypicFeature mondo SNOMEDCT_US:60086000|UMLS:C0020595|MSH:D006994|UMLS:C0857899|UMLS:C1846226 Abnormally reduced levels of aldosterone. http://purl.obolibrary.org/obo/HP_0004319 Mineralocorticoid insufficiency|Decreased aldosterone production|Decreased serum aldosterone|Low blood aldosterone level|Hypoaldosteronism|Decreased aldosterone MONDO:0007620 fish eye disease biolink:Disease mondo GARD:0006450|SCTID:238092004|OMIM:136120|ICD10:E78.6|UMLS:C0342895|Orphanet:79292 Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. SNOMEDCT:238092004|MESH:C538467|http://identifiers.org/omim/136120|ORPHA:79292|UMLS:C0342895 http://purl.obolibrary.org/obo/MONDO_0007620 alpha-LCAT deficiency|fed|alpha-lecithin:cholesterol acyltransferase deficiency|alpha-lecithin cholesterol acyltransferase deficiency|fish-eye disease; fed|fish eye disease|LCATA deficiency|dyslipoproteinemic corneal dystrophy|partial LCAT deficiency gard_rare|ordo_clinical_subtype MONDO:0019618 Sheehan syndrome biolink:Disease mondo MedDRA:10036297|GARD:0007630|SCTID:290653008|DOID:9476|ICD10:E23.0|UMLS:C0242342|Orphanet:91355|NCIT:C35300 An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset. DOID:9476|SNOMEDCT:290653008|UMLS:C0242342|ORPHA:91355|MEDDRA:10036297|NCIT:C35300 http://purl.obolibrary.org/obo/MONDO_0019618 Sheehan's syndrome|postpartum hypopituitarism|postpartum pituitary necrosis|postpartum panhypopituitary syndrome|postpartum panhypopituitarism ordo_malformation_syndrome UBERON:0004264 lower leg skin biolink:AnatomicalEntity mondo A zone of skin that is part of a lower leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004264 hind limb zeugopod skin|hind limb middle limb segment skin UBERON:0004265 outflow tract myocardium biolink:AnatomicalEntity mondo A myocardium that is part of a outflow tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004265 outflow tract cardiac muscle|cardiac muscle of outflow tract|heart myocardium of outflow tract|outflow tract muscle of heart|heart muscle of outflow tract|muscle of heart of outflow tract|outflow tract heart muscle|myocardium of outflow tract|outflow tract heart myocardium MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome biolink:Disease mondo SCTID:715668008|UMLS:C4275064|Orphanet:91354|ICD10:E23.0|UMLS:CN206468 UMLS:CN206468|SNOMEDCT:715668008|UMLS:C4275064|ORPHA:91354 http://purl.obolibrary.org/obo/MONDO_0019617 hypopituitarism due to empty sella turcica syndrome ordo_disease HP:0004313 Decreased circulating antibody level biolink:PhenotypicFeature mondo MSH:D000361|SNOMEDCT_US:119250001|UMLS:C4048270|UMLS:C0086438 An abnormally decreased level of immunoglobulin in blood. http://purl.obolibrary.org/obo/HP_0004313 Decreased immunoglobulin level|Decreased antibody level in blood|Reduced immunoglobulin levels|Hypogammaglobulinemia|Immunoglobulin deficiency|Decreased serum immunoglobulin UBERON:0004262 upper leg skin biolink:AnatomicalEntity mondo A zone of skin that is part of a hindlimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004262 thigh skin|hind limb stylopod skin|hindlimb stylopod skin|skin of thigh|skin of upper leg MONDO:0019619 duplication of the esophagus biolink:Disease mondo ICD10:Q39.8|Orphanet:91357 ORPHA:91357 http://purl.obolibrary.org/obo/MONDO_0019619 ordo_group_of_disorders UBERON:0004263 upper arm skin biolink:AnatomicalEntity mondo A zone of skin that is part of a forelimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004263 skin of arm stylopod|arm stylopod skin|skin of upper arm UBERON:0004260 upper arm blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a forelimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004260 forelimb stylopod blood vessel MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts biolink:Disease mondo ICD10:E23.0|Orphanet:91350 ORPHA:91350 http://purl.obolibrary.org/obo/MONDO_0019614 pituitary deficiency due to Rathke's cleft cysts ordo_disease MONDO:0019613 non-functioning pituitary adenoma biolink:Disease mondo SCTID:254962005|Orphanet:91349|ICD10:D35.2|DOID:5715|EFO:0008516|NCIT:C4348 A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome. NCIT:C4348|SNOMEDCT:254962005|ORPHA:91349|DOID:5715 http://purl.obolibrary.org/obo/MONDO_0019613 non-functioning pituitary gland adenoma|functionless adenoma of the pituitary gland|non-functioning pituitary adenoma|functionless adenoma of pituitary gland|functionless adenoma of the pituitary|functionless adenoma of pituitary|non-secretory pituitary gland adenoma|non-functioning neoplasm of the pituitary|silent pituitary gland adenoma|non-secretory adenoma of the pituitary gland|non-secretory pituitary adenoma|non-secretory adenoma of pituitary gland|non-secretory adenoma of the pituitary|non-secretory adenoma of pituitary|functionless pituitary gland adenoma|nonfunctional pituitary gland adenoma|non-functioning adenoma of the pituitary gland|functionless pituitary adenoma|non-functioning adenoma of pituitary gland|non-functioning adenoma of the pituitary|NFPA|non-functioning adenoma of pituitary ordo_disease UBERON:0004261 lower leg blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a lower leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004261 hindlimb zeugopod blood vessel MONDO:0019616 obsolete germinoma of the central nervous system biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019616 MONDO:0019615 pituitary dermoid and epidermoid cysts biolink:Disease mondo Orphanet:91351 ORPHA:91351 http://purl.obolibrary.org/obo/MONDO_0019615 ordo_disease MONDO:0019610 Zollinger-Ellison syndrome biolink:Disease mondo GARD:0007918|UMLS:C0043515|MESH:D015043|HP:0002044|ICD10:E16.4|NCIT:C3453|DOID:0050782|Orphanet:913|ICD10:D37.7|EFO:0007549|ICD10:C25.4|MedDRA:10017852|SCTID:53132006 Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion. UMLS:C0017150|MESH:D015043|NCIT:C3453|SNOMEDCT:53132006|MESH:D015408|UMLS:C0043515|DOID:0050782|ORPHA:913|MEDDRA:10017852 http://purl.obolibrary.org/obo/MONDO_0019610 Z-E syndrome|pancreatic ulcerogenic tumor syndrome|Zollinger-Ellison syndrome (disease)|ZES|Z E syndrome|Zollinger Ellison syndrome|Zollinger-Ellison syndrome|gastrinoma ordo_disease HGNC:2678 DARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2678 MONDO:0019612 functioning gonadotropic adenoma biolink:Disease mondo UMLS:C0346304|Orphanet:91348|ICD10:D35.2|SCTID:254960002 Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children). UMLS:C0346304|SNOMEDCT:254960002|ORPHA:91348 http://purl.obolibrary.org/obo/MONDO_0019612 gonadotroph adenoma|functioning pituitary gonadotropic adenoma ordo_disease MONDO:0019611 TSH-secreting pituitary adenoma biolink:Disease mondo NCIT:C8011|ICD10:D35.2|Orphanet:91347|UMLS:C0346303 A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism. UMLS:C0346303|ORPHA:91347|NCIT:C8011 http://purl.obolibrary.org/obo/MONDO_0019611 TSH secreting adenoma of pituitary gland|TSHoma|TSH secreting adenoma of the pituitary|thyroid stimulating hormone-secreting pituitary adenoma|thyrotrophic adenoma|TSH secreting adenoma of pituitary|TSH secreting pituitary gland adenoma|thyroid stimulating hormone producing adenoma of the pituitary gland|TSH-oma|TSH secreting pituitary adenoma|TSH-producing pituitary gland adenoma|thyroid stimulating hormone producing adenoma of pituitary gland|thyroid stimulating hormone producing adenoma of the pituitary|thyroid stimulating hormone producing adenoma of pituitary|thyroid stimulating hormone secreting pituitary gland adenoma|TSH producing pituitary gland adenoma|TSH producing adenoma of the pituitary gland|TSH-producing adenoma|thyroid stimulating hormone secreting pituitary adenoma|TSH producing pituitary adenoma|thyroid stimulating hormone secreting adenoma of the pituitary gland|thyrotroph adenoma|TSH producing adenoma of pituitary gland|thyrotropin producing pituitary gland adenoma|thyroid stimulating hormone secreting adenoma of pituitary gland|TSH producing adenoma of the pituitary|thyroid stimulating hormone secreting adenoma of the pituitary|thyroid stimulating hormone secreting adenoma of pituitary|thyroid stimulating hormone producing pituitary gland adenoma|thyrotropinoma|TSH producing adenoma of pituitary|pituitary thyrotrophic adenoma|thyrotrope adenoma|thyroid stimulating hormone producing pituitary adenoma|TSH secreting adenoma of the pituitary gland|thyroid stimulating hormone-producing adenoma ordo_disease UBERON:0004268 lower arm connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a lower arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004268 UBERON:0004269 upper arm connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a forelimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004269 UBERON:0004266 upper leg connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a hindlimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004266 HGNC:2671 DAO biolink:OntologyClass mondo http://identifiers.org/hgnc/2671 UBERON:0004267 back connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a back [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004267 mesenchyne of back MONDO:0007638 fucosidase regulator biolink:Disease mondo OMIM:136830 http://identifiers.org/omim/136830 http://purl.obolibrary.org/obo/MONDO_0007638 fucosidase regulator|Alpha-L-fucosidase regulator MONDO:0007639 fundus albipunctatus biolink:Disease mondo DOID:11105|COHD:373472|ICD9:362.74|ICD10:H35.5|ICD9:362.76|MESH:C562733|Orphanet:227796|OMIM:136880|ICD10:H35.52|SCTID:68222009 Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. DOID:11105|SNOMEDCT:68222009|MESH:C562733|ORPHA:227796|http://identifiers.org/omim/136880 http://purl.obolibrary.org/obo/MONDO_0007639 pigmentary retinal dystrophy|fundus albipunctatus|retinitis punctata albescens ordo_disease MONDO:0007636 frontorhiny biolink:Disease mondo GARD:0012642|ICD10:Q75.8|OMIM:136760|Orphanet:391474 Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed. ORPHA:391474|http://identifiers.org/omim/136760 http://purl.obolibrary.org/obo/MONDO_0007636 FND1|isolated median cleft face syndrome|ALX3-related frontonasal dysplasia|frontorhiny|frontonasal dysplasia type 1|frontonasal dysplasia|isolated median cleft syndrome|median Facial cleft syndrome|frontonasal dysplasia 1|frontonasal dysplasia 1; FND1|frontonasal malformation ordo_malformation_syndrome MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 biolink:Disease mondo UMLS:C1850959|OMIM:136800|MESH:C535478 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. UMLS:C1850959|MESH:C535478|http://identifiers.org/omim/136800 http://purl.obolibrary.org/obo/MONDO_0007637 corneal dystrophy, Fuchs endothelial, early-onset|corneal dystrophy, Fuchs endothelial, 1; FECD1|Fuchs' endothelial dystrophy caused by mutation in COL8A2|corneal dystrophy, Fuchs endothelial, 1|corneal dystrophy, Fuchs endothelial, type 1|FECD1|COL8A2 Fuchs' endothelial dystrophy NCBITaxon:29263 tick-borne encephalitis virus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29263 Tick-borne encephalitis viruses MONDO:0007634 intellectual disability, FRA12A type biolink:Disease mondo OMIM:136630|UMLS:C1969893|MESH:C566980 UMLS:C1969893|http://identifiers.org/omim/136630|MESH:C566980 http://purl.obolibrary.org/obo/MONDO_0007634 intellectual disability, FRA12A type|mental retardation, FRA12A type MONDO:0007635 Frasier syndrome biolink:Disease mondo Orphanet:347|GARD:0002375|ICD9:759.89|NCIT:C122805|ICD10:N04.1|OMIM:136680|UMLS:C0950122|DOID:0050438|MESH:D052159|SCTID:445431000 Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. SNOMEDCT:445431000|NCIT:C122805|UMLS:C0950122|ORPHA:347|DOID:0050438|http://identifiers.org/omim/136680|MESH:D052159 http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome ordo_disease|gard_rare MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) biolink:Disease mondo OMIM:136580 http://identifiers.org/omim/136580 http://purl.obolibrary.org/obo/MONDO_0007632 fragile site 16Q22|fragile site, Distamycin a type, rare, fra(16)(q22.1)|fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1); FRA16B|FRA16B CHEBI:33405 hydracid biolink:ChemicalSubstance mondo A hydracid is a compound which contains hydrogen that is not bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/CHEBI_33405 hydracids|hydracid MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness biolink:Disease mondo MESH:C564999|OMIM:136600|UMLS:C1850982 UMLS:C1850982|http://identifiers.org/omim/136600|MESH:C564999 http://purl.obolibrary.org/obo/MONDO_0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness MONDO:0007630 North Carolina macular dystrophy biolink:Disease mondo GARD:0009179|MESH:C537835|ICD10:H35.5|OMIM:136550|UMLS:C0730294|SCTID:312925009|Orphanet:75327 North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination. UMLS:C0730294|ORPHA:75327|MESH:C537835|http://identifiers.org/omim/136550|SNOMEDCT:312925009 http://purl.obolibrary.org/obo/MONDO_0007630 North Carolina macular dystrophy|macular dystrophy, retinal, 1, NORTH Carolina type; MCDR1|retinal pigment epithelial dystrophy central|central retinal pigment epithelial dystrophy|foveal dystrophy, progressive, formerly|progressive foveal dystrophy|macular dystrophy, retinal, 1, NORTH Carolina type|MCDR1|foveal dystrophy, progressive|North Carolina macular dystrophy, retinal 1|central areolar pigment epithelial dystrophy|retinal pigment epithelial dystrophy, central|NCMD|foveal dystrophy progressive|CAPE dystrophy|caped|macular dystrophy retinal 1 North Carolina type ordo_disease|gard_rare NCBITaxon:42231 Mansonella perstans organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42231 Dipetalonema perstans MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb biolink:Disease mondo OMIM:136570|NCIT:C129875|DOID:0060399|MESH:C565001 A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects. MESH:C565001|http://identifiers.org/omim/136570|NCIT:C129875|DOID:0060399 http://purl.obolibrary.org/obo/MONDO_0007631 chromosome 16p12.1 deletion syndrome|chromosome 16p12.1 deletion syndrome, type 520kb|fragile site, Distamycin a type, Rare, fra(16)(p12.1)|fragile site 16P12|chromosome 16p12.1 deletion syndrome, 520-KB NCBITaxon:42230 Mansonella organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42230 CHEBI:33408 pnictogen oxoacid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33408 pnictogen oxoacids NCBITaxon:66225 Phaeoannellomyces organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_66225 HP:0004325 Decreased body weight biolink:PhenotypicFeature mondo UMLS:C1262477|UMLS:C1844806|MSH:D013851|SNOMEDCT_US:89362005|SNOMEDCT_US:262285001|MSH:D015431|SNOMEDCT_US:248342006|UMLS:C0041667|SNOMEDCT_US:161832001 Abnormally low body weight. http://purl.obolibrary.org/obo/HP_0004325 Weight less than 3rd percentile|Low weight|Decreased weight|Decreased body weight|Low body weight UBERON:0004253 skin muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a skin of body [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004253 skin muscle organ|integumental system muscle|muscle of integumental system|muscle organ of skin MONDO:0019607 unspecified juvenile idiopathic arthritis biolink:Disease mondo ICD10:M08.8|Orphanet:91140 Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. ORPHA:91140 http://purl.obolibrary.org/obo/MONDO_0019607 unspecified JIA ordo_disease HP:0004324 Increased body weight biolink:PhenotypicFeature mondo SNOMEDCT_US:8943002|MSH:D015430|SNOMEDCT_US:161831008|SNOMEDCT_US:262286000|UMLS:C0043094 Abnormally increased body weight. http://purl.obolibrary.org/obo/HP_0004324 Increased body weight|Weight gain UBERON:0004254 forelimb zeugopod muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a forelimb zeugopod (lower arm)[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004254 muscle of forearm|lower arm muscle|forearm muscle|wing zeugopod muscle MONDO:0019606 simple cryoglobulinemia biolink:Disease mondo SCTID:723674005|UMLS:C4510006|Orphanet:91139|ICD10:D89.1|UMLS:CN206459 Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. UMLS:CN206459|SNOMEDCT:723674005|UMLS:C4510006|ORPHA:91139 http://purl.obolibrary.org/obo/MONDO_0019606 cryoglobulinemia type 1 ordo_disease HP:0004323 Abnormality of body weight biolink:PhenotypicFeature mondo UMLS:C4025357|UMLS:C0878621 An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. http://purl.obolibrary.org/obo/HP_0004323 Abnormality of habitus|Abnormality of body weight UBERON:0004251 hindlimb zeugopod bone biolink:AnatomicalEntity mondo A bone that is part of a lower leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004251 bone organ of hind limb zeugopod|zeugopod of hind limb bone organ|bone of hindlimb middle limb segment|intermediate segment of free lower limb bone organ|bone organ of inferior member zeugopod|zeugopod of inferior member bone organ|bone of zeugopod of leg|zeugopod of hind limb bone|bone of middle limb segment of hindlimb|lower leg bone|bone of hind limb zeugopod|bone organ of middle limb segment of hindlimb|intermediate segment of free lower limb bone|bone of inferior member zeugopod|bone organ of zeugopod of leg|zeugopod of inferior member bone|bone of zeugopod of inferior member|middle limb segment of hind limb bone organ|bone of intermediate segment of free lower limb|middle limb segment of hindlimb bone organ|zeugopod of leg bone organ|bone organ of zeugopod of hindlimb|middle limb segment of hindlimb bone|bone organ of intermediate segment of free lower limb|bone of lower leg|middle limb segment of hind limb bone|bone of zeugopod of hind limb|middle limb segment of inferior member bone organ|zeugopod of leg bone|bone organ of zeugopod of inferior member|bone of zeugopod of hindlimb|bone organ of middle limb segment of inferior member|bone organ of lower leg|middle limb segment of inferior member bone|bone organ of zeugopod of hind limb|bone organ of middle limb segment of hind limb|bone of middle limb segment of inferior member|zeugopod of hindlimb bone organ|lower extremity middle limb segment bone organ|zeugopod of hindlimb bone|bone of middle limb segment of hind limb|bone of inferior member middle limb segment|bone of hind limb middle limb segment|inferior member zeugopod bone organ|lower extremity middle limb segment bone|bone organ of inferior member middle limb segment|hind limb zeugopod bone organ|bone of hindlimb zeugopod|bone of zeugopod of lower extremity|bone organ of hind limb middle limb segment|inferior member zeugopod bone|bone organ of zeugopod of lower extremity|hind limb zeugopod bone|bone organ of hindlimb zeugopod|hindlimb middle limb segment bone organ|hindlimb zeugopod bone organ|zeugopod of lower extremity bone organ|bone organ of lower extremity zeugopod|bone organ of middle limb segment of lower extremity|hindlimb middle limb segment bone|hindlimb zeugopod bone|bone of lower extremity zeugopod|bone of middle limb segment of lower extremity|zeugopod of lower extremity bone|hind limb middle limb segment bone organ|bone of lower extremity middle limb segment|hind limb middle limb segment bone|inferior member middle limb segment bone organ|lower extremity zeugopod bone organ|bone organ of lower extremity middle limb segment|middle limb segment of lower extremity bone organ|inferior member middle limb segment bone|middle limb segment of lower extremity bone|lower extremity zeugopod bone|bone organ of hindlimb middle limb segment MONDO:0019609 Zellweger syndrome biolink:Disease mondo SCTID:88469006|Orphanet:912|GARD:0007917|MESH:D015211|ICD10:E71.510|ICD10:Q87.8|UMLS:C0043459|DOID:905|NCIT:C85239 Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. SNOMEDCT:88469006|DOID:905|ORPHA:912|NCIT:C85239|MESH:D015211|UMLS:C0043459 http://purl.obolibrary.org/obo/MONDO_0019609 peroxisome biogenesis disorder|ZS|congenital iron overload|cerebrohepatorenal syndrome|Zellweger leukodystrophy|ZWS ordo_disease MONDO:0019608 46,XX disorder of sex development induced by maternal-derived androgen biolink:Disease mondo Orphanet:91144|UMLS:CN227662|ICD10:Q56.2 ORPHA:91144|UMLS:CN227662 http://purl.obolibrary.org/obo/MONDO_0019608 46,XX DSD induced by maternal-derived androgen ordo_group_of_disorders UBERON:0004252 hindlimb stylopod muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a hindlimb stylopod (upper leg)[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004252 upper leg muscle|muscle of thigh|thigh muscle HP:0004322 Short stature biolink:PhenotypicFeature mondo SNOMEDCT_US:237836003|UMLS:C0349588 A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). http://purl.obolibrary.org/obo/HP_0004322 Height less than 3rd percentile|Short stature|Stature below 3rd percentile|Decreased body height|Small stature HP:0004329 Abnormal posterior eye segment morphology biolink:PhenotypicFeature mondo UMLS:C4025354 http://purl.obolibrary.org/obo/HP_0004329 Abnormality of the posterior segment of the globe|Abnormal morphology of the posterior segment of the globe|Abnormality of the posterior segment of the eye|Abnormality of the posterior segment of the eyeball MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome biolink:Disease mondo UMLS:CN206455|SCTID:722111004|ICD10:Q87.5|Orphanet:91133 Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. UMLS:CN206455|ORPHA:91133|SNOMEDCT:722111004 http://purl.obolibrary.org/obo/MONDO_0019603 ordo_malformation_syndrome MONDO:0019602 other inborn metabolic disease biolink:Disease mondo UMLS:CN206450|Orphanet:91088 UMLS:CN206450|ORPHA:91088 http://purl.obolibrary.org/obo/MONDO_0019602 other metabolic disease obsoletion_candidate|ordo_group_of_disorders HP:0004328 Abnormal anterior eye segment morphology biolink:PhenotypicFeature mondo UMLS:C4025355 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). http://purl.obolibrary.org/obo/HP_0004328 Abnormality of the anterior segment of the eye|Abnormality of the anterior segment of the eyeball|Abnormality of the anterior segment of the globe|Abnormal anterior segment morphology UBERON:0004250 upper arm bone biolink:AnatomicalEntity mondo A bone that is part of a forelimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004250 humerus CHEBI:33402 sulfur oxoacid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33402 sulfur oxoacids|oxoacids of sulfur MONDO:0019605 immunotactoid or fibrillary glomerulopathy biolink:Disease mondo ICD10:N03.6|Orphanet:91137|GARD:0012741 Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. ORPHA:91137 http://purl.obolibrary.org/obo/MONDO_0019605 Immunotactoid or fibrillary glomerulonephritis|fibrillary glomerulonephritis and immunotactoid glomerulopathy ordo_group_of_disorders|gard_rare HP:0004327 Abnormal vitreous humor morphology biolink:PhenotypicFeature mondo UMLS:C4025356 Any structural anomaly of the vitreous body. http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humour morphology hposlim_core HP:0004326 Cachexia biolink:PhenotypicFeature mondo SNOMEDCT_US:238108007|SNOMEDCT_US:285384003|UMLS:C0006625|MSH:D002100 Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. http://purl.obolibrary.org/obo/HP_0004326 Wasting syndrome MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome biolink:Disease mondo UMLS:CN206457|SCTID:724099000|UMLS:C4510369|Orphanet:91136|ICD10:E72.0 Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. SNOMEDCT:724099000|UMLS:CN206457|UMLS:C4510369|ORPHA:91136 http://purl.obolibrary.org/obo/MONDO_0019604 acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome|acquired Fanconi syndrome secondary to monoclonal gammopathy ordo_disease HGNC:2689 DBH biolink:OntologyClass mondo http://identifiers.org/hgnc/2689 MONDO:0032600 snijders blok-campeau syndrome biolink:Disease mondo OMIM:618205 http://identifiers.org/omim/618205 http://purl.obolibrary.org/obo/MONDO_0032600 SNIJDERS BLOK-CAMPEAU SYNDROME; SNIBCPS|Intellectual Developmental Disorder With Macrocephaly, Speech Delay, and Dysmorphic Facies MONDO:0019601 autosomal recessive axonal hereditary motor and sensory neuropathy biolink:Disease mondo ICD10:G60.0|UMLS:CN206449|Orphanet:91024 Autosomal recessive form of axonal hereditary motor and sensory neuropathy. UMLS:CN206449|ORPHA:91024 http://purl.obolibrary.org/obo/MONDO_0019601 autosomal recessive axonal Charcot-Marie-Tooth disease type 2|axonal hereditary motor and sensory neuropathy, autosomal recessive|AR-CMT2 ordo_group_of_disorders UBERON:0004259 lower arm blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a lower arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004259 forelimb zeugopod blood vessel MONDO:0019600 xeroderma pigmentosum biolink:Disease mondo MESH:D014983|UMLS:C0043346|NCIT:C3452|Orphanet:910|DOID:0050427|ICD10:Q82.1|SCTID:44600005|MedDRA:10048220|GARD:0007910 Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). NCIT:C3452|SNOMEDCT:44600005|MEDDRA:10048220|UMLS:C0043346|MESH:D014983|DOID:0050427|ORPHA:910 http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma of Kaposi|angioma pigmentosum atrophicum|xeroderma pigmentosum syndrome|XP|Kaposi disease|atrophoderma pigmentosum|xeroderma pigmentosa|pigmented epitheliomatosis|melanosis lenticularis progressiva|Kaposi dermatosis ordo_disease|gard_rare UBERON:0004257 upper leg blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a hindlimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004257 thigh blood vessel|blood vessel of stylopod of hind limb|blood vessel of thigh|blood vessel of stylopod of hindlimb|hind limb stylopod blood vessel|hindlimb stylopod blood vessel|blood vessel of upper leg UBERON:0004258 back blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a back [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004258 blood vessel of back UBERON:0004255 forelimb stylopod muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a forelimb stylopod (upper arm)[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004255 wing stylopod muscle|skeletal muscle of upper arm|muscle of upper arm|upper arm muscle|muscle of arm UBERON:0004256 hindlimb zeugopod muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a hindlimb zeugopod (lower leg) [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004256 calf muscle|lower leg muscle|muscle of leg HGNC:2682 DAZ1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2682 MONDO:0007607 Birt-Hogg-Dube syndrome biolink:Disease mondo OMIM:135150|DOID:0050676|NCIT:C28244|EFO:1001273|SCTID:110985001|MedDRA:10067736|MESH:D058249|GARD:0002322|Orphanet:122|ICD9:704.8|UMLS:C0346010 Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. ORPHA:122|DOID:0050676|http://identifiers.org/omim/135150|NCIT:C28244|MESH:D058249|UMLS:C0346010|SNOMEDCT:110985001|MEDDRA:10067736 http://purl.obolibrary.org/obo/MONDO_0007607 BHD|BHD syndrome|fibrofolliculomas with trichodiscomas and acrochordons|Birt-Hogg-Dube syndrome; BHD|Birt-Hogg-Dubé syndrome|Hornstein-Knickenberg syndrome|Birt Hogg Dube syndrome|Birt-Hogg-Dube syndrome ordo_malformation_syndrome MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction biolink:Disease mondo OMIM:618223 http://identifiers.org/omim/618223 http://purl.obolibrary.org/obo/MONDO_0032607 VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION; VETD MONDO:0007608 desmoid tumor biolink:Disease mondo UMLS:C1851124|UMLS:C0079218|ICDO:8821/1|GARD:0001820|UMLS:CN072436|Orphanet:873|ONCOTREE:DES|ICD10:D48.1|OMIM:135290|NCIT:C9182 A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. NCIT:C9182|UMLS:C0079218|UMLS:CN072436|http://identifiers.org/omim/135290|ORPHA:873|UMLS:C1851124 http://purl.obolibrary.org/obo/MONDO_0007608 desmoid-type fibromatosis|desmoid tumor caused by somatic mutation|FIF|deep fibromatosis|fibromatosis, familial infiltrative|deep fibromatosis/desmoid tumor|desmoid fibromatosis|desmoid/aggressive fibromatosis|desmoid type fibromatosis|desmoid disease, hereditary|desmoid tumor|desmoid disorder, hereditary|familial infiltrative fibromatosis|aggressive fibromatosis MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 biolink:Disease mondo OMIM:618224 http://identifiers.org/omim/618224 http://purl.obolibrary.org/obo/MONDO_0032608 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3 MONDO:0007605 fibrinolytic defect biolink:Disease mondo UMLS:C1851184|OMIM:134900|MESH:C565017 MESH:C565017|UMLS:C1851184|http://identifiers.org/omim/134900 http://purl.obolibrary.org/obo/MONDO_0007605 fibrinolytic defect MONDO:0032605 mental retardation, autosomal recessive 66 biolink:Disease mondo OMIM:618221 http://identifiers.org/omim/618221 http://purl.obolibrary.org/obo/MONDO_0032605 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66; MRT66 MONDO:0007606 fibrodysplasia ossificans progressiva biolink:Disease mondo UMLS:C0016037|ICD10:M61.10|ICD10:M61.1|OMIM:135100|MedDRA:10068715|ICD9:728.11|Orphanet:337|SCTID:82725007|GARD:0006445|NCIT:C3040|DOID:13374 Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. ORPHA:337|http://identifiers.org/omim/135100|SNOMEDCT:82725007|DOID:13374|UMLS:C0016037|MEDDRA:10068715|NCIT:C3040|MESH:D009221 http://purl.obolibrary.org/obo/MONDO_0007606 Stone man syndrome|progressive ossifying myositis|Stone Man syndrome|fibrodysplasia ossificans progressiva; fop|progressive myositis ossificans|fop|fibrodysplasia ossificans progressiva|fop|myositis ossificans progressiva ordo_disease MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 biolink:Disease mondo OMIM:618222 http://identifiers.org/omim/618222 http://purl.obolibrary.org/obo/MONDO_0032606 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2; MC1DN2 MONDO:0007603 Felty syndrome biolink:Disease mondo ICD10:M05.0|ICD9:714.1|MESH:D005258|UMLS:C0015773|COHD:81097|OMIM:134750|SCTID:57160007|MedDRA:10016386|EFO:0007269|GARD:0008234|NCIT:C84712|DOID:11042|ICD10:M05.00|Orphanet:47612 Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections. SNOMEDCT:57160007|MEDDRA:10016386|DOID:11042|MESH:D005258|http://identifiers.org/omim/134750|NCIT:C84712|ORPHA:47612|UMLS:C0015773 http://purl.obolibrary.org/obo/MONDO_0007603 Felty syndrome|rheumatoid arthritis with splenoadenomegaly and leukopenia|splenomegaly-neutropenia-rheumatoid arthritis syndrome|familial Felty's syndrome|Felty's syndrome|rheumatoid arthritis, splenomegaly and neutropenia ordo_disease|gard_rare MONDO:0032603 polydactyly, postaxial, type A9 biolink:Disease mondo OMIM:618219 http://identifiers.org/omim/618219 http://purl.obolibrary.org/obo/MONDO_0032603 POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 MONDO:0032604 retinitis pigmentosa 84 biolink:Disease mondo OMIM:618220 http://identifiers.org/omim/618220 http://purl.obolibrary.org/obo/MONDO_0032604 RETINITIS PIGMENTOSA 84; RP84 MONDO:0007604 femoral-facial syndrome biolink:Disease mondo Orphanet:1988|SCTID:13280000|MESH:C537916|ICD9:759.89|GARD:0000061|ICD10:Q87.8|OMIM:134780 Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies. MESH:C537916|ORPHA:1988|http://identifiers.org/omim/134780|SNOMEDCT:13280000|UMLS:C0265263 http://purl.obolibrary.org/obo/MONDO_0007604 femoral dysgenesis, bilateral|femoral hypoplasia-unusual facies syndrome|femoral-facial syndrome|FFS|FHUFS|femoral hypoplasia unusual facies syndrome|femoral-facial syndrome; FFS|femoral facial syndrome gard_rare|ordo_malformation_syndrome MONDO:0007601 familial Mediterranean fever, autosomal dominant biolink:Disease mondo MESH:C565021|OMIM:134610|UMLS:C1851347 http://identifiers.org/omim/134610|UMLS:C1851347|MESH:C565021 http://purl.obolibrary.org/obo/MONDO_0007601 Fmf, autosomal dominant|familial Mediterranean fever, autosomal dominant MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy biolink:Disease mondo OMIM:618213 http://identifiers.org/omim/618213 http://purl.obolibrary.org/obo/MONDO_0032601 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE MONDO:0007602 obsolete favism, susceptibility to biolink:Disease mondo OMIM:134700 http://identifiers.org/omim/134700 http://purl.obolibrary.org/obo/MONDO_0007602 moved to {300908}|favism, susceptibility to predisposition NCBITaxon:1930602 Psocodea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1930602 MONDO:0007600 primary Fanconi syndrome biolink:Disease mondo ICD10:E72.0|GARD:0009118|NCIT:C123229|Orphanet:3337 Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. NCIT:C123229|ORPHA:3337 http://purl.obolibrary.org/obo/MONDO_0007600 Fanconi renotubular syndrome 1|primary Fanconi renotubular syndrome|FRTS1 gard_rare|ordo_disease MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 biolink:Disease mondo OMIM:618225 http://identifiers.org/omim/618225 http://purl.obolibrary.org/obo/MONDO_0032609 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4 NCBITaxon:29258 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_29258 UBERON:0004242 bronchus smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004242 smooth muscle of bronchial trunk|bronchi smooth muscle|bronchial trunk smooth muscle|involuntary muscle of bronchi|non-striated muscle of bronchi|involuntary muscle of bronchial trunk|non-striated muscle of bronchial trunk|bronchus involuntary muscle|bronchial trunk involuntary muscle|non-striated muscle of bronchus|bronchi involuntary muscle|involuntary muscle of bronchus|bronchus smooth muscle tissue|smooth muscle of bronchus|bronchial trunk smooth muscle tissue|bronchial smooth muscle|smooth muscle tissue of bronchus|bronchi smooth muscle tissue|bronchi non-striated muscle|bronchial trunk non-striated muscle|smooth muscle tissue of bronchi|smooth muscle of bronchi|bronchus non-striated muscle|smooth muscle tissue of bronchial trunk UBERON:0004243 prostate gland smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a prostate gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004243 prostate smooth muscle|non-striated muscle of prostate gland|involuntary muscle of prostate gland|non-striated muscle of prostate|involuntary muscle of prostate|prostate involuntary muscle|muscular tissue of prostate|smooth muscle of prostate gland|substantia muscularis prostatae|smooth muscle tissue of prostate gland|smooth muscle of prostate|prostate gland involuntary muscle|smooth muscle tissue of prostate|prostate smooth muscle tissue|prostate gland non-striated muscle|prostate gland smooth muscle tissue|prostate non-striated muscle UBERON:0004240 gall bladder smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a gallbladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004240 gall bladder non-striated muscle|gall bladder smooth muscle tissue|biliary smooth muscle|gallbladder non-striated muscle|smooth muscle tissue of gallbladder|smooth muscle of gallbladder|non-striated muscle of gall bladder|gallbladder smooth muscle|involuntary muscle of gall bladder|gallbladder involuntary muscle|involuntary muscle of gallbladder|smooth muscle of gall bladder|non-striated muscle of gallbladder|smooth muscle tissue of gall bladder|gallbladder smooth muscle tissue|gall bladder involuntary muscle UBERON:0004241 main bronchus smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004241 bronchus principalis smooth muscle tissue|principal bronchus smooth muscle|primary bronchus non-striated muscle|smooth muscle of bronchus principalis|primary bronchus involuntary muscle|smooth muscle tissue of bronchus principalis|non-striated muscle of principal bronchus|involuntary muscle of principal bronchus|primary bronchus smooth muscle|principal bronchus involuntary muscle|primary bronchus smooth muscle tissue|bronchus principalis non-striated muscle|non-striated muscle of primary bronchus|smooth muscle of principal bronchus|main bronchus non-striated muscle|involuntary muscle of primary bronchus|smooth muscle tissue of principal bronchus|principal bronchus smooth muscle tissue|smooth muscle tissue of main bronchus|smooth muscle of main bronchus|main bronchus involuntary muscle|bronchus principalis smooth muscle|bronchus principalis involuntary muscle|smooth muscle of primary bronchus|principal bronchus non-striated muscle|smooth muscle tissue of primary bronchus|non-striated muscle of bronchus principalis|involuntary muscle of main bronchus|involuntary muscle of bronchus principalis|non-striated muscle of main bronchus|main bronchus smooth muscle tissue MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 biolink:Disease mondo OMIM:618226 http://identifiers.org/omim/618226 http://purl.obolibrary.org/obo/MONDO_0032610 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5; MC1DN5 MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 biolink:Disease mondo OMIM:618228 http://identifiers.org/omim/618228 http://purl.obolibrary.org/obo/MONDO_0032611 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6; MC1DN6 HGNC:2699 DDX3Y biolink:OntologyClass mondo http://identifiers.org/hgnc/2699 UBERON:0004248 pedal digit bone biolink:AnatomicalEntity mondo A bone that is part of a hindlimb digit. Typically phalanges but may include sesamoids. http://purl.obolibrary.org/obo/UBERON_0004248 toe bone organ|foot digit bone organ|toe bone|digital bone of pes|foot digit bone|bone of digit of foot|digital bone of foot|digitus pedis bone organ|digit of foot bone|digitus pedis bone|foot digit bone|hind limb digit bone HGNC:2698 DBT biolink:OntologyClass mondo http://identifiers.org/hgnc/2698 UBERON:0004249 manual digit bone biolink:AnatomicalEntity mondo A bone that is part of a forelimb digit. Typically phalanges but may include sesamoids. http://purl.obolibrary.org/obo/UBERON_0004249 finger bone|hand digit bone|digital bone of hand|digital bone of manus|fore limb digit bone|hand digit bone UBERON:0004246 outflow tract smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a outflow tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004246 outflow tract non-striated muscle|outflow tract involuntary muscle|smooth muscle tissue of outflow tract|smooth muscle of outflow tract|outflow tract smooth muscle tissue|involuntary muscle of outflow tract|non-striated muscle of outflow tract UBERON:0004247 bone of dorsum biolink:AnatomicalEntity mondo A bone that is part of the dorsal region of an animal. http://purl.obolibrary.org/obo/UBERON_0004247 back bone|dorsal region bone|bone of back UBERON:0004245 oviduct smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a fallopian tube [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004245 non-striated muscle of fallopian tube|involuntary muscle of fallopian tube|fallopian tube smooth muscle tissue|smooth muscle of fallopian tube|smooth muscle tissue of fallopian tube|fallopian tube non-striated muscle|fallopian tube smooth muscle|fallopian tube involuntary muscle MONDO:0007618 Eng-Strom syndrome biolink:Disease mondo Orphanet:1937|ICD10:Q87.1|UMLS:C2931545|OMIM:135950 Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. ORPHA:1937|http://identifiers.org/omim/135950|UMLS:C2931545 http://purl.obolibrary.org/obo/MONDO_0007618 short stature-locking fingers syndrome|finger locking, recurrent, with intrauterine growth retardation and proportionate short stature ordo_malformation_syndrome MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 biolink:Disease mondo OMIM:618235 http://identifiers.org/omim/618235 http://purl.obolibrary.org/obo/MONDO_0032618 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13; MC1DN13 MONDO:0007619 isolated congenital adermatoglyphia biolink:Disease mondo SCTID:763748007|MESH:C565010|ICD10:Q82.8|Orphanet:289465|GARD:0012550|OMIM:136000 Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. MESH:C565010|http://identifiers.org/omim/136000|ORPHA:289465|SNOMEDCT:763748007 http://purl.obolibrary.org/obo/MONDO_0007619 adermatoglyphia; ADERM|ADG|adermatoglyphia|immigration delay disease|congenital absence of fingerprints|fingerprints, absence of|ADERM|absence of fingerprints ordo_disease MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 biolink:Disease mondo OMIM:618236 http://identifiers.org/omim/618236 http://purl.obolibrary.org/obo/MONDO_0032619 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14; MC1DN14 MONDO:0007616 fibula, recurrent dislocation of head of biolink:Disease mondo UMLS:C1851099|MESH:C565011|OMIM:135800 http://identifiers.org/omim/135800|UMLS:C1851099|MESH:C565011 http://purl.obolibrary.org/obo/MONDO_0007616 fibula, recurrent dislocation of head of MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 biolink:Disease mondo OMIM:618233 http://identifiers.org/omim/618233 http://purl.obolibrary.org/obo/MONDO_0032616 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10; MC1DN10 MONDO:0007617 Coffin-Siris syndrome 1 biolink:Disease mondo UMLS:CN029606|GARD:0009945|OMIM:609943|OMIM:614562|UMLS:C3281201|DOID:0070042|OMIM:135900|UMLS:C1864967|MESH:C538391 UMLS:C3281201|http://identifiers.org/omim/135900|DOID:0070042|http://identifiers.org/omim/614562|UMLS:C1864967|MESH:C538391|UMLS:CN029606|http://identifiers.org/omim/609943 http://purl.obolibrary.org/obo/MONDO_0007617 COFFIN-SIRIS syndrome 1; CSS1|MRD12|hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features|hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features|fifth digit syndrome|mental retardation, autosomal dominant type 12|intellectual disability, autosomal dominant 12|CSS1|autosomal dominant mental retardation 12|COFFIN-SIRIS syndrome; CSS|mental retardation, autosomal dominant 12; MRD12|CSS|mental retardation, autosomal dominant 12|COFFIN-SIRIS syndrome gard_rare MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 biolink:Disease mondo OMIM:618234 http://identifiers.org/omim/618234 http://purl.obolibrary.org/obo/MONDO_0032617 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11 MONDO:0007614 congenital fibrosis of extraocular muscles biolink:Disease mondo DOID:0080143|SCTID:400946004|ICD10:H49.8|GARD:0012590|UMLS:CN043677|OMIMPS:135700|ICD9:728.2|UMLS:C1302995|Orphanet:45358 UMLS:C1302995|UMLS:CN043677|ORPHA:45358|DOID:0080143|SNOMEDCT:400946004 http://purl.obolibrary.org/obo/MONDO_0007614 CFEOM1|fibrosis of extraocular muscles, congenital, 1|FEOM|fibrosis of extraocular muscles, congenital, 1; CFEOM1|ophthalmoplegia, congenital|blepharoptosis with absent eye movements|fibrosis of extraocular muscles, congenital|fibrosis of extraocular muscles, congenital, type 1|Feom1 locus|Tukel syndrome|congenital fibrosis of the extraocular muscles|fibrosis of extraocular muscles, congenital, 3B ordo_disease|prototype_pattern MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 biolink:Disease mondo OMIM:618231 http://identifiers.org/omim/618231 http://purl.obolibrary.org/obo/MONDO_0032614 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2 MONDO:0007615 laurin-Sandrow syndrome biolink:Disease mondo GARD:0000155|SCTID:715440003|Orphanet:2378|ICD10:Q87.2|OMIM:135750|MESH:C535689 Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. SNOMEDCT:715440003|MESH:C535689|http://identifiers.org/omim/135750|UMLS:C1851100|ORPHA:2378 http://purl.obolibrary.org/obo/MONDO_0007615 mirror hands and feets-nasal defects syndrome|laurin-Sandrow syndrome, segmental|mirror-Image polydactyly|laurin Sandrow syndrome|laurin-Sandrow syndrome; LSS|Sandrow syndrome|fibula ulna duplication tibia radius absence|laurin-Sandrow syndrome|mirror hands and feet with nasal defects|LSS|tetramelic mirror-Image polydactyly|fibula and ulna, Duplication of, with absence of tibia and radius ordo_malformation_syndrome|gard_rare MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 biolink:Disease mondo OMIM:618232 http://identifiers.org/omim/618232 http://purl.obolibrary.org/obo/MONDO_0032615 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9; MC1DN9 MONDO:0007612 gingival fibromatosis-progressive deafness syndrome biolink:Disease mondo Orphanet:2027|UMLS:C1851112|GARD:0003056|ICD10:H90.3|OMIM:135550|SCTID:722449007|MESH:C535886 Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. http://identifiers.org/omim/135550|MESH:C535886|UMLS:C1851112|ORPHA:2027|SNOMEDCT:722449007 http://purl.obolibrary.org/obo/MONDO_0007612 GFD|gingival fibromatosis with progressive deafness|fibromatosis, gingival, with progressive deafness|Jones syndrome|gingival fibromatosis with sensorineural hearing loss|familial gingival fibromatosis associated with progressive deafness ordo_malformation_syndrome MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 biolink:Disease mondo OMIM:618229 http://identifiers.org/omim/618229 http://purl.obolibrary.org/obo/MONDO_0032612 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7; MC1DN7 MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 biolink:Disease mondo OMIM:618230 http://identifiers.org/omim/618230 http://purl.obolibrary.org/obo/MONDO_0032613 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8; MC1DN8 MONDO:0007613 obsolete fibromuscular dysplasia of arteries biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007613 MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome biolink:Disease mondo ICD10:L68.8|OMIM:135400|Orphanet:2026|SCTID:716008002|MESH:C565016|GARD:0002324 Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. SNOMEDCT:716008002|ORPHA:2026|MESH:C565016|http://identifiers.org/omim/135400 http://purl.obolibrary.org/obo/MONDO_0007610 congenital generalized hypertrichosis terminalis|hereditary gingival fibromatosis with hypertrichosis|hypertrichosis, congenital generalized, with or without gingival hyperplasia; HTC3|chromosome 17Q24.2-q24.3 deletion syndrome|hypertrichosis with or without gingival hyperplasia|hypertrichosis terminalis, generalized, with or without gingival hyperplasia|hirsutism-congenital gingival hyperplasia syndrome|microdeletion 17Q24.2-q24.3 syndrome|HTC3|hypertrichosis, congenital generalized, with or without gingival hyperplasia|hypertrichosis terminalis, generalized, with gingival hyperplasia|fibromatosis, gingival, with hypertrichosis|chromosome 17Q24.2-q24.3 Duplication syndrome|gingival fibromatosis with hypertrichosis|extreme hirsutism with gingival fibromatosis|microduplication 17Q24.2-q24.3 syndrome|CGHT ordo_malformation_syndrome|gard_rare MONDO:0007611 obsolete Zimmermann-Laband syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007611 HP:0004308 Ventricular arrhythmia biolink:PhenotypicFeature mondo UMLS:C0085612|SNOMEDCT_US:44103008 http://purl.obolibrary.org/obo/HP_0004308 Ventricular arrhythmias UBERON:0004231 anal region smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of an anal region [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004231 anal region involuntary muscle|anal triangle non-striated muscle|anal part of perineum involuntary muscle|anal region smooth muscle tissue|anal part of perineum non-striated muscle|anal triangle involuntary muscle|smooth muscle tissue of anal triangle|smooth muscle of anal triangle|smooth muscle tissue of anal part of perineum|smooth muscle of anal part of perineum|anal triangle smooth muscle|anal region non-striated muscle|anal part of perineum smooth muscle tissue|anal triangle smooth muscle tissue|anal part of perineum smooth muscle|smooth muscle tissue of anal region|involuntary muscle of anal triangle|non-striated muscle of anal triangle|smooth muscle of anal region|involuntary muscle of anal part of perineum|non-striated muscle of anal part of perineum|involuntary muscle of anal region|non-striated muscle of anal region HP:0004303 Abnormal muscle fiber morphology biolink:PhenotypicFeature mondo UMLS:C4021663 Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. http://purl.obolibrary.org/obo/HP_0004303 Abnormal muscle fibre morphology|Abnormal skeletal muscle fiber morphology|Abnormality of muscle fibers UBERON:0004232 lymphatic vessel smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a lymphatic vessel [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004232 smooth muscle of lymph vessel|smooth muscle tissue of lymph vessel|lymphatic vessel non-striated muscle|lymph vessel involuntary muscle|lymph vessel non-striated muscle|lymphatic vessel involuntary muscle|lymph vessel smooth muscle tissue|lymph vessel smooth muscle|lymphatic vessel smooth muscle tissue|non-striated muscle of lymphatic vessel|involuntary muscle of lymphatic vessel|non-striated muscle of lymph vessel|involuntary muscle of lymph vessel|smooth muscle of lymphatic vessel|smooth muscle tissue of lymphatic vessel UBERON:0004230 urinary bladder neck smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a neck of urinary bladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004230 vesical neck smooth muscle|neck of urinary bladder non-striated muscle|bladder neck smooth muscle tissue|smooth muscle of bladder neck|smooth muscle tissue of neck of urinary bladder|smooth muscle tissue of bladder neck|neck of bladder smooth muscle tissue|non-striated muscle of vesical neck|smooth muscle of neck of urinary bladder|trigonal muscle of urinary bladder|non-striated muscle of urinary bladder neck|involuntary muscle of vesical neck|neck of urinary bladder smooth muscle|involuntary muscle of urinary bladder neck|neck of urinary bladder involuntary muscle|involuntary muscle of neck of urinary bladder|neck of bladder non-striated muscle|non-striated muscle of neck of urinary bladder|smooth muscle of vesical neck|bladder neck non-striated muscle|smooth muscle tissue of neck of bladder|urinary bladder neck involuntary muscle|smooth muscle of urinary bladder neck|smooth muscle tissue of vesical neck|neck of urinary bladder smooth muscle tissue|vesical neck involuntary muscle|smooth muscle of neck of bladder|smooth muscle tissue of urinary bladder neck|neck of bladder smooth muscle|bladder neck smooth muscle|vesical neck non-striated muscle|involuntary muscle of neck of bladder|urinary bladder neck smooth muscle tissue|non-striated muscle of neck of bladder|vesical neck smooth muscle tissue|urinary bladder neck muscle|urinary bladder neck non-striated muscle|bladder neck involuntary muscle|non-striated muscle of bladder neck|trigonal muscle|neck of bladder involuntary muscle|involuntary muscle of bladder neck HP:0004307 Abnormal anatomic location of the heart biolink:PhenotypicFeature mondo UMLS:C4025359 Thickening of the left ventricle wall with congenital onset. http://purl.obolibrary.org/obo/HP_0004307 HP:0004306 Abnormal endocardium morphology biolink:PhenotypicFeature mondo UMLS:C4021662 An abnormality of the endocardium. http://purl.obolibrary.org/obo/HP_0004306 Abnormality of the endocardium|Abnormality of the endomycoardium HP:0004305 Involuntary movements biolink:PhenotypicFeature mondo UMLS:C0235086|SNOMEDCT_US:102542000 Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. http://purl.obolibrary.org/obo/HP_0004305 Involuntary muscle contractions|Involuntary movements UBERON:0004239 small intestine smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004239 smooth muscle tissue of small bowel|smooth muscle of small bowel|small bowel smooth muscle|small bowel smooth muscle tissue|involuntary muscle of small bowel|non-striated muscle of small bowel|small intestine non-striated muscle|small intestine involuntary muscle|smooth muscle tissue of small intestine|smooth muscle of small intestine|small intestine smooth muscle tissue|involuntary muscle of small intestine|non-striated muscle of small intestine|small bowel non-striated muscle|small bowel involuntary muscle MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 biolink:Disease mondo OMIM:618238 http://identifiers.org/omim/618238 http://purl.obolibrary.org/obo/MONDO_0032621 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16; MC1DN16 MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17 biolink:Disease mondo OMIM:618239 http://identifiers.org/omim/618239 http://purl.obolibrary.org/obo/MONDO_0032622 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17; MC1DN17 UBERON:0004237 blood vessel smooth muscle biolink:AnatomicalEntity mondo smooth muscle found within, and composing the majority of the wall of blood vessels. http://purl.obolibrary.org/obo/UBERON_0004237 non-striated muscle of blood vessel|involuntary muscle of blood vessel|blood vessel involuntary muscle|smooth muscle of blood vessel|smooth muscle tissue of blood vessel|vascular smooth muscle|blood vessel smooth muscle tissue|blood vessel non-striated muscle|vascular smooth muscle tissue MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 biolink:Disease mondo OMIM:618237 http://identifiers.org/omim/618237 http://purl.obolibrary.org/obo/MONDO_0032620 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15; MC1DN15 UBERON:0004238 spleen smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a spleen [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004238 smooth muscle of spleen|smooth muscle tissue of spleen|spleen involuntary muscle|spleen non-striated muscle|spleen smooth muscle tissue|non-striated muscle of spleen|involuntary muscle of spleen UBERON:0004235 mammary gland smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a mammary gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004235 smooth muscle tissue of mammary gland UBERON:0004236 arteriole smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of an arteriole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004236 MONDO:0007609 fibromatosis, gingival, 1 biolink:Disease mondo OMIM:135300|UMLS:CN030594|GARD:0006509 Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene. UMLS:CN030594|http://identifiers.org/omim/135300 http://purl.obolibrary.org/obo/MONDO_0007609 gingival fibromatosis caused by mutation in SOS1|fibromatosis gingival, hereditary, 1|gingival fibromatosis, 1|GINGF1|SOS1 hereditary gingival fibromatosis|fibromatosis, gingival, hereditary|hereditary gingival fibromatosis caused by mutation in SOS1|SOS1 gingival fibromatosis|hereditary gingival fibromatosis, 1|fibromatosis, gingival, 1|HGF1|GGF1|GINGF|fibromatosis, gingival, type 1|fibromatosis, gingival, 1; GINGF1 gard_rare UBERON:0004233 lower respiratory tract smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a lower respiratory tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004233 lower respiratory tract involuntary muscle|lower respiratory tract non-striated muscle|smooth muscle tissue of lower respiratory tract|smooth muscle of lower respiratory tract|lower respiratory tract smooth muscle tissue|involuntary muscle of lower respiratory tract|non-striated muscle of lower respiratory tract UBERON:0004234 iris smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a iris [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004234 iris non-striated muscle|iridial smooth muscle|non-striated muscle of iris|iris involuntary muscle|involuntary muscle of iris|iris smooth muscle tissue|smooth muscle of iris|smooth muscle tissue of iris MONDO:0005009 congestive heart failure biolink:Disease mondo ICD9:428.9|ICD10:I50|NCIT:C3080|SCTID:42343007|ICD9:428|ICD10:I50.9|UMLS:C0018802|ICD9:428.0|ICD10:I50.0|ICD9:404.13|EFO:0000373|ICD9:404.01|ICD9:404.11|COHD:319835|DOID:6000 Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. UMLS:C0018802|NCIT:C3080|DOID:6000|SNOMEDCT:42343007 http://purl.obolibrary.org/obo/MONDO_0005009 weak heart|failure, congestive heart|heart failure, congestive|congestive heart disease|CHF|cardiac failure, congestive MONDO:0005006 clear cell sarcoma of kidney biolink:Disease mondo NCIT:C4264|ICD10:C64|ICDO:8964/3|UMLS:C0334488|ONCOTREE:CCSK|UMLS:CN242113|EFO:0000350|DOID:4880|Orphanet:457246 A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. UMLS:C0334488|UMLS:CN242113|DOID:4880|ORPHA:457246|NCIT:C4264 http://purl.obolibrary.org/obo/MONDO_0005006 childhood renal clear cell sarcoma|clear cell sarcoma of kidney|CCSK|clear cell sarcoma - kidney|childhood clear cell sarcoma of the kidney|kidney clear cell sarcoma|pediatric renal clear cell sarcoma|childhood kidney clear cell sarcoma|clear cell sarcoma of the kidney|renal clear cell sarcoma|pediatric kidney clear cell sarcoma ordo_disease MONDO:0007669 renal cysts and diabetes syndrome biolink:Disease mondo DOID:0111101|SCTID:446641003|UMLS:C0431693|Orphanet:93111|OMIM:137920|MESH:C535520|GARD:0010221|UMLS:CN206512|ICD10:E11.2|NCIT:C123018 Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. SNOMEDCT:446641003|DOID:0111101|http://identifiers.org/omim/137920|UMLS:C2959918|MESH:C535520|UMLS:CN206512|UMLS:C0431693|ORPHA:93111|NCIT:C123018 http://purl.obolibrary.org/obo/MONDO_0007669 RCAD|congenital anomalies of the kidney and urinary tract with diabetes|renal dysfunction-early-onset diabetes syndrome|HNF1B-related renal cysts and diabetes syndrome|hyperuricemic nephropathy, familial juvenile, atypical|renal cysts and diabetes syndrome; RCAD|HNF1B-MODY|MODY type 5|FJHN, atypical|hepatocyte nuclear Factor 1-beta-associated monogenic diabetes|atypical FJHN|atypical familial juvenile hyperuricemic nephropathy|glomerulocystic kidney disease, hypoplastic type|renal cysts-maturity-onset diabetes of the young syndrome|FJHN atypical|CAKUT with diabetes|MODY5|maturity-onset diabetes of the young type 5|RCAD syndrome|maturity-onset diabetes of the Young, type 5|hypoplastic type glomerulocystic kidney disease|renal cysts and diabetes syndrome|glomerulocystic kidney, familial hypoplastic|familial hypoplastic glomerulocystic kidney|maturity onset diabetes of the Young, type 5 ordo_disease|gard_rare MONDO:0005005 clear cell renal carcinoma biolink:Disease mondo EFO:0000349|GARD:0009574|ICD9:189.0|SCTID:254915003|NCIT:C4033|DOID:4467|ONCOTREE:CCRCC A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. SNOMEDCT:254915003|DOID:4467|NCIT:C4033 http://purl.obolibrary.org/obo/MONDO_0005005 kidney clear cell adenocarcinoma|clear cell carcinoma of kidney|clear cell renal cell cancer|clear cell carcinoma of the kidney|renal cell carcinoma, clear cell adenocarcinoma|kidney clear cell carcinoma|clear-cell metastatic renal cell carcinoma|clear cell adenocarcinoma, kidney|clear cell kidney carcinoma|clear cell renal cell carcinoma|conventional (clear cell) renal cell carcinoma|Grawitz tumor|hypernephroma|RCC, clear cell adenocarcinoma|conventional (clear cell) renal cell adenocarcinoma|renal clear cell carcinoma|conventional renal cell carcinoma|renal clear cell adenocarcinoma|clear cell adenocarcinoma of kidney|clear cell adenocarcinoma of the kidney MONDO:0007667 subependymoma biolink:Disease mondo ICDO:9383/1|DOID:4843|ICD10:D43.2|MESH:D018315|EFO:1000553|ONCOTREE:SUBE|EFO:1001197|UMLS:C0206725|GARD:0010070|Orphanet:251639|NCIT:C3795 Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma. NCIT:C3795|DOID:4843|UMLS:C0206725|MESH:D018315|ORPHA:251639 http://purl.obolibrary.org/obo/MONDO_0007667 subependymal astrocytoma NOS|WHO grade I ependymal tumor|WHO grade I ependymal neoplasm|subependymal astrocytoma|subependymal astrocytoma (formerly)|SUBEPENDYMOMA, benign|subependymoma|mixed subependymoma-ependymoma|subependymal glioma prototype_pattern|ordo_histopathological_subtype MONDO:0005008 colorectal adenocarcinoma biolink:Disease mondo DOID:0050913|SCTID:408645001|UMLS:C1319315|DOID:0050861|ONCOTREE:COADREAD|EFO:0000365|NCIT:C5105 The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. DOID:0050861|DOID:0050913|NCIT:C5105|UMLS:C1319315|SNOMEDCT:408645001 http://purl.obolibrary.org/obo/MONDO_0005008 adenocarcinoma of the large intestine|large bowel adenocarcinoma|adenocarcinoma of large intestine|colorectal adenocarcinoma|colorectum adenocarcinoma|adenocarcinoma of the large bowel|large intestine adenocarcinoma|colorectal (colon or rectal) adenocarcinoma|adenocarcinoma of large bowel MONDO:0005007 colon mucinous adenocarcinoma biolink:Disease mondo DOID:3029|EFO:0000364|UMLS:C0279639|NCIT:C7966 An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. UMLS:C0279639|DOID:3029|NCIT:C7966 http://purl.obolibrary.org/obo/MONDO_0005007 mucinous colon adenocarcinoma|colloid colon adenocarcinoma|colon colloid adenocarcinoma|colonic colloidal adenocarcinoma|colonic mucinous adenocarcinoma|colloid adenocarcinoma of the colon|mucinous adenocarcinoma of the colon|colloid adenocarcinoma of colon|mucinous adenocarcinoma of colon|colonic colloid adenocarcinoma|colon mucinous adenocarcinoma|colloidal adenocarcinoma of the colon|colloidal colon adenocarcinoma|colon colloidal adenocarcinoma|colloidal adenocarcinoma of colon MONDO:0007668 globulin anomaly involving beta (2A)-globulin biolink:Disease mondo UMLS:C1842009|MESH:C564229|OMIM:137900 UMLS:C1842009|http://identifiers.org/omim/137900|MESH:C564229 http://purl.obolibrary.org/obo/MONDO_0007668 globulin anomaly involving beta (2A)-globulin MONDO:0005002 chronic obstructive pulmonary disease biolink:Disease mondo SCTID:13645005|ICD9:496|NCIT:C3199|MESH:D029424|COHD:255573|EFO:0000341|DOID:3083|ICD10:J44.9|ICD9:490-496.99 A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. DOID:3083|SNOMEDCT:13645005|MESH:D029424|NCIT:C3199 http://purl.obolibrary.org/obo/MONDO_0005002 chronic obstructive pulmonary disease, (COPD)|COPD|chronic obstructive airway disease|cold|chronic obstructive lung disease|cold (chronic obstructive lung disease)|COPD, chronic obstructive pulmonary disease|chronic obstructive airways disease|pulmonary disease (COPD), chronic obstructive|obstructive pulmonary disease (COPD), chronic|obstructive lung disease, chronic|disease (COPD), chronic obstructive|chronic obstructive pulmonary disease (COPD) MONDO:0020643 autism susceptibility 1 biolink:Disease mondo OMIM:209850 http://identifiers.org/omim/209850 http://purl.obolibrary.org/obo/MONDO_0020643 AUTS1 predisposition MONDO:0007665 primary open angle glaucoma biolink:Disease mondo SCTID:77075001|COHD:435262|ICD10:H40.11|ICD9:365.11|ICD10:H40.1|MESH:C562750|OMIM:137760|NCIT:C35394|DOID:1070 A form of glaucoma in which there is no visible abnormality in the trabecular meshwork. NCIT:C35394|SNOMEDCT:77075001|http://identifiers.org/omim/137760|DOID:1070|MESH:C562750 http://purl.obolibrary.org/obo/MONDO_0007665 chronic simple glaucoma|glaucoma 1, open angle, E|glaucoma, primary open angle, adult-onset|glaucoma, primary open angle; POAG|glaucoma, primary open angle|POAG MONDO:0005001 chronic gastritis (disease) biolink:Disease mondo ICD9:535.40|EFO:0000337|HP:0005231|UMLS:C0085695|SCTID:8493009|ICD9:535.4|NCIT:C26929|ICD9:535.41 Inflammation of the stomach that is chronic in nature. UMLS:C0085695|SNOMEDCT:8493009|NCIT:C26929 http://purl.obolibrary.org/obo/MONDO_0005001 chronic gastritis|gastritis (disease), chronic MONDO:0020642 polycystic kidney disease biolink:Disease mondo OMIMPS:173900|SCTID:82525005|NCIT:C75464|DOID:0080322 A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. SNOMEDCT:82525005|DOID:0080322|NCIT:C75464 http://purl.obolibrary.org/obo/MONDO_0020642 PKD - polycystic kidney disease|fibrocystic renal disease|polycystic kidney disease MONDO:0007666 glaucoma-sleep apnea syndrome biolink:Disease mondo OMIM:137763|MESH:C564232|UMLS:C1842025|Orphanet:2085|GARD:0002483 Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). ORPHA:2085|http://identifiers.org/omim/137763|UMLS:C1842025|MESH:C564232 http://purl.obolibrary.org/obo/MONDO_0007666 glaucoma sleep apnea|glaucoma and sleep apnea gard_rare|ordo_disease MONDO:0005004 clear cell adenocarcinoma biolink:Disease mondo EFO:0000348|MESH:D018262|NCIT:C3766|UMLS:C0206681|DOID:4468|ICDO:8310/3 A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. NCIT:C3766|NCIT:C36815|DOID:4468|UMLS:C0206681|MESH:D018262 http://purl.obolibrary.org/obo/MONDO_0005004 clear cell adenocarcinoma (morphologic abnormality)|Mesonephroma, malignant (morphologic abnormality)|Mesonephroid clear cell adenocarcinoma|Mesonephroma NOS (morphologic abnormality)|malignant Mesonephroma|water-clear cell carcinoma|Wolffian duct neoplasm|Mesonephroma, malignant|water-clear cell adenocarcinoma (morphologic abnormality)|Mesonephroid clear cell carcinoma|clear cell adenocarcinoma|water-clear cell adenocarcinoma|adenocarcinoma, clear cell, malignant|clear cell carcinoma|mesonephroma|clear cell adenocarcinoma NOS (morphologic abnormality) MONDO:0007663 glaucoma with elevated episcleral venous pressure biolink:Disease mondo OMIM:137700|MESH:C564235|UMLS:C1842030 UMLS:C1842030|http://identifiers.org/omim/137700|MESH:C564235 http://purl.obolibrary.org/obo/MONDO_0007663 glaucoma with elevated episcleral venous pressure MONDO:0020641 respiratory tract neoplasm biolink:Disease mondo NCIT:C3355|EFO:0003853|SCTID:126667002|MESH:D012142 A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. SNOMEDCT:126667002|NCIT:C3355|MESH:D012142 http://purl.obolibrary.org/obo/MONDO_0020641 respiratory system neoplasm|neoplasms, respiratory tract|neoplasm of the respiratory tract|tumor of respiratory tract|tract neoplasms, respiratory|respiratory tract neoplasm|tumor of the respiratory tract|tract neoplasm, respiratory|neoplasm, respiratory tract|neoplasm of respiratory tract|respiratory tract tumor MONDO:0007664 glaucoma 1, open angle, A biolink:Disease mondo GARD:0009485|MESH:C564234|OMIM:137750|UMLS:C1842028 Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene. http://identifiers.org/omim/137750|UMLS:C1842028|MESH:C564234 http://purl.obolibrary.org/obo/MONDO_0007664 GLC1A|glaucoma, primary open angle, juvenile-onset, 1|glaucoma hereditary, juvenile|glaucoma 1, open angle, 50|glaucoma 1, open angle, A; GLC1A|JOAG1|juvenile open angle glaucoma caused by mutation in MYOC|juvenile glaucoma caused by mutation in MYOC|JOAG1A|MYOC juvenile glaucoma|MYOC juvenile open angle glaucoma|glaucoma 1, open angle, type A|glaucoma 1, open angle, A|primary open angle glaucoma juvenile onset 1 MONDO:0005003 chronic pancreatitis biolink:Disease mondo NCIT:C84637|COHD:195596|MESH:D050500|EFO:0000342|SCTID:235494005|ICD9:577.1|UMLS:C0149521 A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus. SNOMEDCT:235494005|MESH:D050500|NCIT:C84637|UMLS:C0149521 http://purl.obolibrary.org/obo/MONDO_0005003 pancreatitis, chronic MONDO:0020640 autoimmune encephalitis biolink:Disease mondo NCIT:C122414|GARD:0011979|SCTID:95643007 Inflammation of the brain secondary to an immune response triggered by the body itself. NCIT:C122414|SNOMEDCT:95643007 http://purl.obolibrary.org/obo/MONDO_0020640 autoimmune encephalitis gard_rare MONDO:0007661 Tourette syndrome biolink:Disease mondo EFO:0004895|ICD10:F95.2|OMIM:137580|DOID:11119|ICD9:307.23|MESH:D005879|SCTID:5158005|GARD:0007783|NCIT:C35078 A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. http://identifiers.org/omim/137580|SNOMEDCT:5158005|DOID:11119|MESH:D005879|NCIT:C35078 http://purl.obolibrary.org/obo/MONDO_0007661 Gilles DE LA TOURETTE syndrome; GTS|Gilles De 50A Tourette syndrome|psychogenic tics|Tourette syndrome|Tourette's syndrome|GTS|Guinon's disease|chronic motor tics|Tourette disorder|Gilles DE LA TOURETTE syndrome|motor-verbal tic disorder MONDO:0007662 anterior segment dysgenesis 4 biolink:Disease mondo OMIM:137600|GARD:0003026|UMLS:C1842031 Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene. UMLS:C1842031|http://identifiers.org/omim/137600 http://purl.obolibrary.org/obo/MONDO_0007662 iridogoniodysgenesis syndrome|ASGD4|PITX2 iridogoniodysgenesis|anterior segment dysgenesis 4; ASGD4|iridogoniodysgenesis, type 2|iridogoniodysgenesis type 2|iridogoniodysgenesis caused by mutation in PITX2|iris hypoplasia with early-onset glaucoma, autosomal dominant|iridogoniodysgenesis, type 2; IRID2|IRID2 MONDO:0005000 obsolete chromophobe renal cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005000 MONDO:0007660 familial ossifying fibroma biolink:Disease mondo Orphanet:435329|GARD:0010887|ICD10:D16.4|UMLS:CN237560|OMIM:137575|MESH:C563017 An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome. http://identifiers.org/omim/137575|UMLS:CN237560|ORPHA:435329|MESH:C563017 http://purl.obolibrary.org/obo/MONDO_0007660 hereditary ossifying fibroma (disease)|intracortical fibrous dysplasia|multiple ossifying fibroma|Jaffe-Campanacci syndrome|cemental dysplasia, periapical|GIGANTIFORM cementoma, familial|Cementomas, familial multiple ordo_disease HP:0004357 Abnormal circulating leucine concentration biolink:PhenotypicFeature mondo UMLS:C4025341 Any deviation from the normal circulation of leucine in the blood circulation. http://purl.obolibrary.org/obo/HP_0004357 MONDO:0020639 monosomy biolink:Disease mondo MESH:D009006|NCIT:C3239 A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. MESH:D009006|NCIT:C3239 http://purl.obolibrary.org/obo/MONDO_0020639 monosomy MONDO:0020638 superficial spreading melanoma biolink:Disease mondo SCTID:254730000|ICDO:8743/3|NCIT:C9152 A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi. NCIT:C9152|SNOMEDCT:254730000 http://purl.obolibrary.org/obo/MONDO_0020638 cutaneous superficial spreading melanoma|pagetoid melanoma|superficial spreading malignant melanoma of skin|superficial spreading melanoma of skin|superficial spreading malignant melanoma of the skin|superficial spreading melanoma of the skin|superficial spreading melanoma|superficial spreading cutaneous (skin) melanoma|superficial spreading malignant skin melanoma|SSM MONDO:0020637 mendelian susceptibility to mycobacterial diseases due to a partial deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020637 predisposition MONDO:0020636 mendelian susceptibility to mycobacterial diseases due to a complete deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020636 predisposition MONDO:0019658 obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation biolink:Disease mondo Orphanet:93222|UMLS:CN206531|ICD10:N04.3 UMLS:CN206531|ORPHA:93222 http://purl.obolibrary.org/obo/MONDO_0019658 MONDO:0020635 anaplastic meningioma biolink:Disease mondo NCIT:C4051|ONCOTREE:ANM|ICDO:9530/3 A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields). NCIT:C4051 http://purl.obolibrary.org/obo/MONDO_0020635 anaplastic meningioma|anaplastic (malignant) meningioma|malignant meningioma|meningioma, anaplastic, malignant|meningioma, malignant MONDO:0019657 obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes biolink:Disease mondo Orphanet:93221|UMLS:CN206530|ICD10:N04.0 UMLS:CN206530|ORPHA:93221 http://purl.obolibrary.org/obo/MONDO_0019657 MONDO:0020634 grade III meningioma biolink:Disease mondo NCIT:C38938 A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma. NCIT:C38938 http://purl.obolibrary.org/obo/MONDO_0020634 grade 3 meningioma|WHO grade III meningioma|grade III meningioma|meningioma, malignant MONDO:0020633 anaplastic cancer biolink:Disease mondo NCIT:C36025|UMLS:C1332287 NCIT:C36025|UMLS:C1332287 http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic malignant neoplasm MONDO:0019659 Pfeiffer syndrome type 1 biolink:Disease mondo Orphanet:93258|ICD10:Q87.0|UMLS:CN206533 Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development. UMLS:CN206533|ORPHA:93258 http://purl.obolibrary.org/obo/MONDO_0019659 classic Pfeiffer syndrome ordo_clinical_subtype MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis biolink:Disease mondo UMLS:CN206527|ICD10:N04.8|Orphanet:93217 UMLS:CN206527|ORPHA:93217 http://purl.obolibrary.org/obo/MONDO_0019654 ordo_histopathological_subtype MONDO:0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes biolink:Disease mondo Orphanet:93216|ICD10:N04.0|UMLS:CN206526 UMLS:CN206526|ORPHA:93216 http://purl.obolibrary.org/obo/MONDO_0019653 ordo_histopathological_subtype MONDO:0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis biolink:Disease mondo UMLS:CN206529|ICD10:N04.8|Orphanet:93220 UMLS:CN206529|ORPHA:93220 http://purl.obolibrary.org/obo/MONDO_0019656 ordo_histopathological_subtype MONDO:0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis biolink:Disease mondo UMLS:CN206528|ICD10:N04.1|Orphanet:93218 UMLS:CN206528|ORPHA:93218 http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis ordo_histopathological_subtype MONDO:0019650 idiopathic steroid-sensitive nephrotic syndrome with minimal change biolink:Disease mondo ICD10:N04.0|UMLS:CN206522|Orphanet:93207 UMLS:CN206522|ORPHA:93207 http://purl.obolibrary.org/obo/MONDO_0019650 steroid-sensitive MCNS ordo_histopathological_subtype HP:0004354 Abnormal circulating carboxylic acid concentration biolink:PhenotypicFeature mondo UMLS:C4025344 Any deviation from the normal concentration of a carboxylic acid in the blood circulation. http://purl.obolibrary.org/obo/HP_0004354 MONDO:0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation biolink:Disease mondo Orphanet:93214|UMLS:CN206525|ICD10:N04.3 UMLS:CN206525|ORPHA:93214 http://purl.obolibrary.org/obo/MONDO_0019652 ordo_histopathological_subtype HP:0004352 Abnormal circulating purine concentration biolink:PhenotypicFeature mondo UMLS:C4025346 Any deviation from the normal concentration of a purine in the blood circulation. http://purl.obolibrary.org/obo/HP_0004352 Abnormal circulating purine level MONDO:0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation biolink:Disease mondo ICD10:N04.3|UMLS:CN206523|Orphanet:93209 UMLS:CN206523|ORPHA:93209 http://purl.obolibrary.org/obo/MONDO_0019651 ordo_histopathological_subtype MONDO:0005017 diffuse gastric adenocarcinoma biolink:Disease mondo EFO:0000402|ONCOTREE:DSTAD|DOID:6217|NCIT:C9159 An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration. DOID:6217|NCIT:C9159 http://purl.obolibrary.org/obo/MONDO_0005017 gastric diffuse adenocarcinoma|diffuse gastric adenocarcinoma|adenocarcinoma of linitis plastica type|diffuse type stomach adenocarcinoma|diffuse adenocarcinoma of the stomach|diffuse adenocarcinoma of stomach|diffuse stomach adenocarcinoma|stomach diffuse type adenocarcinoma|diffuse type carcinoma|carcinoma, diffuse type (morphologic abnormality)|diffuse type adenocarcinoma|adenocarcinoma of the linitis plastica type|carcinoma, diffuse type MONDO:0005016 diabetic nephropathy biolink:Disease mondo MESH:D003928|EFO:0000401|ICD9:250.4|SCTID:127013003|ICD9:583.81|ICD9:250.40|NCIT:C84417 Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. MESH:D003928|SNOMEDCT:127013003|NCIT:C84417 http://purl.obolibrary.org/obo/MONDO_0005016 diabetic kidney disease|diabetic nephropathy MONDO:0005019 diffuse scleroderma biolink:Disease mondo EFO:0000404|DOID:1580|MESH:D045743 A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. MESH:D045743|DOID:1580 http://purl.obolibrary.org/obo/MONDO_0005019 systemic sclerosis, diffuse|diffuse systemic sclerosis MONDO:0007678 obsolete glycoprotein, renal biolink:Disease mondo OMIM:138710 http://identifiers.org/omim/138710 http://purl.obolibrary.org/obo/MONDO_0007678 glycoprotein, renal MONDO:0007679 GMS syndrome biolink:Disease mondo MESH:C564214|OMIM:138770|GARD:0002523|Orphanet:2090|UMLS:C1841854|SCTID:716024001|ICD10:Q87.8 GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. ORPHA:2090|http://identifiers.org/omim/138770|MESH:C564214|UMLS:C1841854|SNOMEDCT:716024001 http://purl.obolibrary.org/obo/MONDO_0007679 GMS syndrome|Goniodysgenesis-intellectual disability-short stature syndrome|Goniodysgenesis--intellectual disability--short stature syndrome|Goniodysgenesis--mental retardation--short stature syndrome gard_rare|ordo_malformation_syndrome MONDO:0005018 obsolete diffuse large B-cell lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005018 MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide biolink:Disease mondo OMIM:138340 http://identifiers.org/omim/138340 http://purl.obolibrary.org/obo/MONDO_0007676 trans-stilbene oxide glutathione transferase activity|glutathione transferase activity toward trans-stilbene oxide MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 biolink:Disease mondo UMLS:CN248521|OMIM:618012 http://identifiers.org/omim/618012|UMLS:CN248521 http://purl.obolibrary.org/obo/MONDO_0020632 IECEE3|epileptic encephalopathy, infantile or early childhood, 3; IECEE3|epileptic encephalopathy, infantile or early childhood, 3 MONDO:0005013 dedifferentiated chondrosarcoma biolink:Disease mondo UMLS:C0862878|ICDO:9243/3|EFO:0000394|ONCOTREE:DDCHS|NCIT:C6476 An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor. UMLS:C0862878|NCIT:C6476 http://purl.obolibrary.org/obo/MONDO_0005013 Dedifferentiated chondrosarcoma|DDCHS MONDO:0005012 cutaneous melanoma (disease) biolink:Disease mondo ICD9:172.5|UMLS:C0151779|ICD9:172.4|ICD10:C43.4|EFO:0000389|ICD9:172.2|ICD10:C43.2|UMLS:C0153536|ICD9:172|ICD9:172.3|UMLS:C0153535|ICD9:172.0|ICD10:C43.0|ONCOTREE:SKCM|ICD10:C43|ICD9:172.9|NCIT:C3510|ICD10:C43.9|HP:0012056|DOID:8923|ICD9:172.8|SCTID:93655004 A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. UMLS:C0151779|SNOMEDCT:93655004|UMLS:C0153535|UMLS:C0153536|NCIT:C3510|DOID:8923 http://purl.obolibrary.org/obo/MONDO_0005012 malignant cutaneous melanoma|malignant melanoma of skin of trunk except scrotum|melanoma (disease) of zone of skin|malignant melanoma of ear and/or external auricular canal|malignant melanoma of skin|melanoma of skin|zone of skin melanoma|malignant melanoma of skin of lower limb|melanoma of the skin|malignant neck melanoma|malignant melanoma of skin of upper limb|cutaneous (skin) melanoma|skin melanoma|malignant upper limb melanoma|cutaneous melanoma|malignant lower limb melanoma|malignant lip melanoma|malignant melanoma (of skin), stage unspecified|malignant trunk melanoma|skin, melanoma|malignant scalp melanoma|malignant ear melanoma|zone of skin melanoma (disease)|malignant melanoma of skin stage unspecified MONDO:0007677 hyperglycinuria (disease) biolink:Disease mondo UMLS:C0543541|OMIM:138500|HP:0003108|MESH:C563009 UMLS:C0543541|http://identifiers.org/omim/138500|MESH:C563009 http://purl.obolibrary.org/obo/MONDO_0007677 Iminoglycinuria type 2|hyperglycinuria|Glycinuria with or without oxalate urolithiasis|Glycinuria with or without oxalate nephrolithiasis UBERON:0004290 dermomyotome biolink:AnatomicalEntity mondo The bilaminar epithelium formed from the myotome and dermatome. http://purl.obolibrary.org/obo/UBERON_0004290 dermamyotome|dermomyotomes MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 biolink:Disease mondo UMLS:CN757794|OMIM:617829 http://identifiers.org/omim/617829|UMLS:CN757794 http://purl.obolibrary.org/obo/MONDO_0020631 IECEE2|epileptic encephalopathy, infantile or early childhood, 2|epileptic encephalopathy, infantile or early childhood, 2; IECEE2 MONDO:0005015 diabetes mellitus (disease) biolink:Disease mondo EFO:0000400|COHD:201820|ICD10:E08-E13|UMLS:C0011849|UMLS:C0011847|ICD10:E11|SCTID:73211009|DOID:9351|NCIT:C2985|MESH:D003920|HP:0000819|ICD10:E10.E14|ICD9:250 A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. MESH:D003920|NCIT:C2985|SNOMEDCT:73211009|UMLS:C0011849|UMLS:C0011847|DOID:9351 http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus|DM|diabetes MONDO:0020630 epileptic encephalopathy, infantile or early childhood, 1 biolink:Disease mondo OMIM:617711 http://identifiers.org/omim/617711 http://purl.obolibrary.org/obo/MONDO_0020630 epileptic encephalopathy, infantile or early childhood, 1; IECEE1|IECEE1 MONDO:0007674 glucose-6-phosphate dehydrogenase-like biolink:Disease mondo OMIM:138110 http://identifiers.org/omim/138110 http://purl.obolibrary.org/obo/MONDO_0007674 G6PDL|glucose-6-phosphate dehydrogenase-like; G6PDL|glucose-6-phosphate dehydrogenase-like MONDO:0007675 glutamic acid decarboxylase, brain, membrane form biolink:Disease mondo OMIM:138277 http://identifiers.org/omim/138277 http://purl.obolibrary.org/obo/MONDO_0007675 glutamic acid decarboxylase, brain, membrane form MONDO:0005014 obsolete dermatomyositis biolink:Disease mondo Inflammation of the skin and muscle. http://purl.obolibrary.org/obo/MONDO_0005014 MONDO:0007672 glomuvenous malformation biolink:Disease mondo ICD10:Q27.8|OMIM:138000|Orphanet:83454|UMLS:C1841984|MESH:C536827|MedDRA:10018381|SCTID:715644000 Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin. MEDDRA:10018381|MESH:C536827|ORPHA:83454|SNOMEDCT:715644000|UMLS:C1841984|http://identifiers.org/omim/138000 http://purl.obolibrary.org/obo/MONDO_0007672 GVM|glomus tumors, multiple|glomangiomas, multiple|multiple glomus tumors|GLOMUVENOUS malformations|glomangiomatosis|Venous malformations with glomus cells|GLOMUVENOUS malformations; GVM|VMGLOM|hereditary multiple glomangiomas ordo_malformation_syndrome MONDO:0007673 Glucoglycinuria biolink:Disease mondo MESH:C562670|UMLS:C0268536|OMIM:138070 MESH:C562670|UMLS:C0268536|http://identifiers.org/omim/138070 http://purl.obolibrary.org/obo/MONDO_0007673 Glucoglycinuria MONDO:0005011 Crohn disease biolink:Disease mondo EFO:0000384|DOID:8778|ICD9:555.1|SCTID:7620006|NCIT:C2965|UMLS:CN043071|ICD10:K50.1|COHD:201606 A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. UMLS:CN043071|NCIT:C2965|SNOMEDCT:7620006|DOID:8778 http://purl.obolibrary.org/obo/MONDO_0005011 Crohn's disease|Crohn disease|granulomatous colitis|regional enteritis|Crohn's disease of large bowel|pediatric Crohn's disease|Crohn's disease of colon MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) biolink:Disease mondo Orphanet:69735|GARD:0012827 Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. ORPHA:69735 http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis lymphedema telangiectasia syndrome ordo_disease MONDO:0005010 coronary artery disease biolink:Disease mondo MESH:D003324|ICD10:I25.1|ICD9:410-414.99|ICD10:K76.1|DOID:3393|ICD10:I25|SCTID:414024009|NCIT:C26732|ICD9:414.9|EFO:0001645|ICD10:I25.9|ICD10:I20-I25|COHD:317576|ICD10:I25.10|ICD9:414.0|GARD:0011944|UMLS:C1956346 Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) DOID:3393|UMLS:C1956346|NCIT:C26732|MESH:D003324|SNOMEDCT:414024009 http://purl.obolibrary.org/obo/MONDO_0005010 CHD (coronary heart disease)|coronary artery disease|coronary disease|disease of coronary artery|coronary artery disease or disorder|disorder of coronary artery|coronary heart disease|CAD|CHD|coronary arteriosclerosis|disorder of coronary artery|disease or disorder of coronary artery MONDO:0007671 fibronectin glomerulopathy biolink:Disease mondo OMIMPS:137950|SCTID:236535001|ICD10:N07.6|MESH:C562900|GARD:0009268|MESH:C536826|DC:0000174|Orphanet:84090 Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. ORPHA:84090|MESH:C536826|SNOMEDCT:236535001|MESH:C562900 http://purl.obolibrary.org/obo/MONDO_0007671 GFND2|glomerulopathy with fibronectin deposits|lobular glomerulopathy, familial|fibronectin glomerulopathy|glomerulopathy with giant fibrillar deposits|glomerulopathy with fibronectin deposits 2|glomerulopathy with fibronectin deposits 1|GFND1|GFND|glomerular nephritis, familial, with fibronectin deposits ordo_disease|prototype_pattern|gard_rare MONDO:0020629 microcephaly, growth restriction and increased sister chromatid exchange biolink:Disease mondo OMIMPS:210900 http://purl.obolibrary.org/obo/MONDO_0020629 MGRISCE UBERON:0004297 respiratory system blood vessel smooth muscle biolink:AnatomicalEntity mondo A blood vessel smooth muscle that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004297 smooth muscle tissue of blood vessel of respiratory system MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 biolink:Disease mondo OMIM:618097 http://identifiers.org/omim/618097 http://purl.obolibrary.org/obo/MONDO_0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2|MGRISCE2 HP:0004368 Increased circulating purine concentration biolink:PhenotypicFeature mondo UMLS:C4025332 Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. http://purl.obolibrary.org/obo/HP_0004368 Increased purine levels|Increased purine level MONDO:0020627 epileptic encephalopathy, infantile or early childhood biolink:Disease mondo OMIMPS:617711 http://purl.obolibrary.org/obo/MONDO_0020627 MONDO:0020626 obsolete yt blood group antigen biolink:Disease mondo OMIM:112100 http://identifiers.org/omim/112100 http://purl.obolibrary.org/obo/MONDO_0020626 Cartwright Antigen|YT BLOOD GROUP ANTIGEN UBERON:0004296 respiratory system lymphatic vessel smooth muscle biolink:AnatomicalEntity mondo A lymphatic vessel smooth muscle that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004296 smooth muscle of lymph vessel of respiratory system MONDO:0019647 congenital bilateral megacalycosis biolink:Disease mondo ICD10:Q63.8|Orphanet:93177 ORPHA:93177 http://purl.obolibrary.org/obo/MONDO_0019647 ordo_clinical_subtype MONDO:0020625 obsolete blood group--wright antigen biolink:Disease mondo OMIM:112050 http://identifiers.org/omim/112050 http://purl.obolibrary.org/obo/MONDO_0020625 WR|Wright Blood Group Antigen|BLOOD GROUP--WRIGHT ANTIGEN; WR UBERON:0004293 parasympathetic nerve biolink:AnatomicalEntity mondo A nerve that is part of a parasympathetic nervous system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004293 nerve of parasympathetic nervous system MONDO:0020624 obsolete blood group--waldner type biolink:Disease mondo OMIM:112010 http://identifiers.org/omim/112010 http://purl.obolibrary.org/obo/MONDO_0020624 Waldner Blood Group Antigen|WD|BLOOD GROUP--WALDNER TYPE; WD MONDO:0019646 unilateral congenital megacalycosis biolink:Disease mondo ICD10:Q63.8|Orphanet:93176 ORPHA:93176 http://purl.obolibrary.org/obo/MONDO_0019646 ordo_clinical_subtype UBERON:0004294 glomerular capillary endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a glomerular capillary. http://purl.obolibrary.org/obo/UBERON_0004294 renal glomerulus capillary endothelium MONDO:0020623 obsolete blood group--ul system biolink:Disease mondo OMIM:112000 http://identifiers.org/omim/112000 http://purl.obolibrary.org/obo/MONDO_0020623 BLOOD GROUP--Ul SYSTEM; UL|UL MONDO:0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis biolink:Disease mondo Orphanet:93206|ICD10:N04.1|UMLS:CN206521 ORPHA:93206|UMLS:CN206521 http://purl.obolibrary.org/obo/MONDO_0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis ordo_histopathological_subtype UBERON:0004291 heart rudiment biolink:AnatomicalEntity mondo A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. http://purl.obolibrary.org/obo/UBERON_0004291 heart cone|rudimentary heart UBERON:0004292 cardiac skeleton biolink:AnatomicalEntity mondo Dense connective tissue that separates the atria from the ventricles and provides physical support for the heart. http://purl.obolibrary.org/obo/UBERON_0004292 trigonum fibrosum sinistrum cordis|heart fibrous skeleton|anulus fibrosus dexter cordis|trigona fibrosa|fibrous skeleton of heart|trigonum fibrosum dextrum cordis|cardiac fibrous skeleton|anulus fibrosus sinister cordis|skeleton of heart MONDO:0019648 achondrogenesis biolink:Disease mondo SCTID:2391001|OMIMPS:200600|MESH:C579878|MedDRA:10066122|NCIT:C84527|Orphanet:932|UMLS:C0001079|DOID:0080043|ICD10:Q77.0|GARD:0002882 Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. NCIT:C84527|MEDDRA:10066122|UMLS:C0001079|DOID:0080043|SNOMEDCT:2391001|MESH:C579878|ORPHA:932 http://purl.obolibrary.org/obo/MONDO_0019648 ordo_disease|gard_rare MONDO:0020622 obsolete blood group--stoltzfus system biolink:Disease mondo OMIM:111800 http://identifiers.org/omim/111800 http://purl.obolibrary.org/obo/MONDO_0020622 Sf|BLOOD GROUP--STOLTZFUS SYSTEM; Sf MONDO:0019643 transient pseudohypoaldosteronism biolink:Disease mondo SCTID:717263009|UMLS:C4273962|Orphanet:93164|UMLS:CN776908|ICD10:N15.8 Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. SNOMEDCT:717263009|UMLS:C4273962|ORPHA:93164|UMLS:CN776908 http://purl.obolibrary.org/obo/MONDO_0019643 TPHA ordo_malformation_syndrome MONDO:0019642 vitamin D-dependent rickets, type 2 biolink:Disease mondo NCIT:C131077|SCTID:72831007|ICD10:E83.3|Orphanet:93160 Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia. SNOMEDCT:72831007|NCIT:C131077|ORPHA:93160 http://purl.obolibrary.org/obo/MONDO_0019642 vitamin D-resistant rickets type II|vitamin D dependent rickets 2|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor|HVDRR|vitamin D-dependent rickets, type 2|vitamin D receptor deficiency|VDDR2|VDDR II|hereditary vitamin D-resistant rickets|vitamin D-dependent rickets type II|VDRR II|hypocalcemic vitamin D-resistant rickets ordo_disease HP:0004360 Abnormality of acid-base homeostasis biolink:PhenotypicFeature mondo MSH:D000137|UMLS:C0001118 An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. http://purl.obolibrary.org/obo/HP_0004360 Acid base imbalance MONDO:0019645 renal dysplasia, bilateral biolink:Disease mondo HP:0012582|SCTID:204950001|Orphanet:93173|ICD10:Q61.4 Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. SNOMEDCT:204950001|UMLS:C0431698|ORPHA:93173 http://purl.obolibrary.org/obo/MONDO_0019645 bilateral renal dysplasia ordo_clinical_subtype MONDO:0019644 renal dysplasia, unilateral biolink:Disease mondo HP:0008718|ICD10:Q61.4|Orphanet:93172 Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. UMLS:C0431697|ORPHA:93172 http://purl.obolibrary.org/obo/MONDO_0019644 unilateral renal dysplasia ordo_clinical_subtype HP:0004364 Abnormal circulating nitrogen compound concentration biolink:PhenotypicFeature mondo UMLS:C4025336 Any deviation from the normal concentration of a nitrogen compound in the blood circulation. http://purl.obolibrary.org/obo/HP_0004364 MONDO:0019641 pauci-immune glomerulonephritis biolink:Disease mondo Orphanet:93126|ICD10:N05.7 Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. ORPHA:93126 http://purl.obolibrary.org/obo/MONDO_0019641 ordo_disease HP:0004363 Abnormal circulating calcium concentration biolink:PhenotypicFeature mondo Any deviation from the normal concentration of calcium in the blood circulation. http://purl.obolibrary.org/obo/HP_0004363 Abnormal circulating Ca2+ concentration|Abnormal blood calcium levels|Abnormal circulating Ca concentration|Abnormal blood calcium concentration MONDO:0019640 posterior urethral valve biolink:Disease mondo MedDRA:10036369|UMLS:CN227669|UMLS:C0238506|NCIT:C99021|ICD9:753.8|GARD:0007439|Orphanet:93110|SCTID:253900005|ICD10:Q64.2 Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. UMLS:C0238506|MEDDRA:10036369|UMLS:CN227669|SNOMEDCT:253900005|UMLS:C0542520|NCIT:C99021|ORPHA:93110 http://purl.obolibrary.org/obo/MONDO_0019640 congenital posterior urethral valves|PUV|Posterior urethral valves ordo_morphological_anomaly MONDO:0007649 gastric juice peptides biolink:Disease mondo OMIM:137220 http://identifiers.org/omim/137220 http://purl.obolibrary.org/obo/MONDO_0007649 gastric juice peptides MONDO:0007647 gastric volvulus, intrathoracic biolink:Disease mondo MESH:C564989|UMLS:C1850902|OMIM:137210 UMLS:C1850902|http://identifiers.org/omim/137210|MESH:C564989 http://purl.obolibrary.org/obo/MONDO_0007647 gastric volvulus, intrathoracic MONDO:0007648 hereditary diffuse gastric adenocarcinoma biolink:Disease mondo ICD10:C16.9|OMIM:137215|GARD:0010900|Orphanet:26106|NCIT:C43295|SCTID:716859000|GARD:0010334|UMLS:C1708349 An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations. NCIT:C43295|UMLS:C1708349|http://identifiers.org/omim/137215|SNOMEDCT:716859000|ORPHA:26106 http://purl.obolibrary.org/obo/MONDO_0007648 signet ring gastric carcinoma|gastric cancer, familial diffuse|breast cancer, lobular|signet ring cell gastric carcinoma|diffuse gastric cancer|FDGC|familial diffuse cancer of stomach|gastric cancer, familial diffuse, and cleft lip with or without cleft palate|hereditary diffuse gastric cancer|familial diffuse gastric cancer|gastric cancer, hereditary diffuse; HDGC|HDGC|signet cell adenocarcinoma|gastric cancer, hereditary diffuse|hereditary diffuse gastric adenocarcinoma|hereditary diffuse cancer of stomach gard_rare|ordo_disease|clingen MONDO:0007645 gastric sneezing biolink:Disease mondo UMLS:C1850930|MESH:C564990|OMIM:137130 UMLS:C1850930|http://identifiers.org/omim/137130|MESH:C564990 http://purl.obolibrary.org/obo/MONDO_0007645 stomach sneeze reflex|gastric sneezing MONDO:0007646 Gamstorp-Wohlfart syndrome biolink:Disease mondo UMLS:CN074193|GARD:0012353|SCTID:711406009|DOID:0050526|Orphanet:324442|OMIM:137200|ICD10:G60.0 Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment. ORPHA:324442|UMLS:CN074193|http://identifiers.org/omim/137200|SNOMEDCT:711406009|DOID:0050526 http://purl.obolibrary.org/obo/MONDO_0007646 autosomal recessive neuromyotonia and axonal neuropathy|myokymia, myotonia and muscle wasting|ARCMT2-NM|autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia|neuromyotonia and axonal neuropathy, autosomal recessive; NMAN|NMAN|Gamstorp-Wohlfart syndrome|ARAN-NM|autosomal recessive axonal neuropathy with neuromyotonia|myokymia, myotonia, and muscle wasting|neuromyotonia and axonal neuropathy, autosomal recessive ordo_disease MONDO:0007643 gamma-A-globulin, defect in assembly of biolink:Disease mondo OMIM:137050|UMLS:C1850934|MESH:C564991 http://identifiers.org/omim/137050|UMLS:C1850934|MESH:C564991 http://purl.obolibrary.org/obo/MONDO_0007643 Immunoglobulin A, defect in Assembly of|IgA, defect in Assembly of|gamma-A-globulin, defect in ASSEMBLY OF MONDO:0020621 obsolete blood group--scianna system biolink:Disease mondo OMIM:111750 http://identifiers.org/omim/111750 http://purl.obolibrary.org/obo/MONDO_0020621 SC|BLOOD GROUP--SCIANNA SYSTEM; SC|Scianna Blood Group MONDO:0007644 IgAD1 biolink:Disease mondo NCIT:C123434|COHD:433171|MESH:C536290|OMIM:137100 Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders. NCIT:C123434|http://identifiers.org/omim/137100|MESH:C536290 http://purl.obolibrary.org/obo/MONDO_0007644 IgAD1|Immunoglobulin A, selective deficiency of|IgA, selective deficiency of|IMMUNOGLOBULIN A deficiency 1; IgAD1|IMMUNOGLOBULIN A deficiency 1|gamma-A-globulin, selective deficiency of MONDO:0020620 obsolete blood group, ss biolink:Disease mondo OMIM:111740 http://identifiers.org/omim/111740 http://purl.obolibrary.org/obo/MONDO_0020620 Ss Blood Group|BLOOD GROUP, Ss; Ss|Ss MONDO:0007641 obsolete Futcher line biolink:Disease mondo OMIM:137000 http://identifiers.org/omim/137000 http://purl.obolibrary.org/obo/MONDO_0007641 Voigt lines|Futcher line|pigmentary demarcation lines MONDO:0007642 isolated agenesis of gallbladder biolink:Disease mondo Orphanet:440987|MESH:C562564|ICD10:Q44.0|OMIM:137040 http://identifiers.org/omim/137040|ORPHA:440987|MESH:C562564 http://purl.obolibrary.org/obo/MONDO_0007642 gallbladder, agenesis OF ordo_morphological_anomaly MONDO:0007640 Sorsby's fundus dystrophy biolink:Disease mondo ICD10:H35.5|DOID:0090114|GARD:0010511|OMIM:136900|Orphanet:59181|MESH:C564992|SCTID:193410003 Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness. SNOMEDCT:193410003|UMLS:C0339515|DOID:0090114|http://identifiers.org/omim/136900|MESH:C564992|ORPHA:59181 http://purl.obolibrary.org/obo/MONDO_0007640 hemorrhagic macular dystrophy|Sorsby's pseudoinflammatory macular dystrophy|Sorsby pseudoinflammatory fundus dystrophy|SFD|macular dystrophy, hemorrhagic|Sorsby fundus dystrophy; SFD|pseudoinflammatory fundus dystrophy of Sorsby|fundus dystrophy, pseudoinflammatory, of Sorsby|Sorsby fundus dystrophy ordo_disease MONDO:0020618 obsolete blood group--private systems biolink:Disease mondo OMIM:111500 http://identifiers.org/omim/111500 http://purl.obolibrary.org/obo/MONDO_0020618 BLOOD GROUP--PRIVATE SYSTEMS|antigenic Determinants of Low Frequency in the Population MONDO:0019639 congenital megacalycosis biolink:Disease mondo ICD9:753.3|SCTID:85901000|Orphanet:93109|ICD10:Q63.8 Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. ORPHA:93109|SNOMEDCT:85901000 http://purl.obolibrary.org/obo/MONDO_0019639 ordo_morphological_anomaly MONDO:0020617 obsolete blood group--ok biolink:Disease mondo OMIM:111380 http://identifiers.org/omim/111380 http://purl.obolibrary.org/obo/MONDO_0020617 OK|BLOOD GROUP--OK; OK MONDO:0020616 obsolete blood group, mn biolink:Disease mondo OMIM:111300 http://identifiers.org/omim/111300 http://purl.obolibrary.org/obo/MONDO_0020616 Blood Group, Mnss System|MN|Mns Blood Group Systed|Mn Blood Group|Mnss Blood Group System|BLOOD GROUP, MN; MN MONDO:0020615 obsolete blood group system, landsteiner-wiener biolink:Disease mondo OMIM:111250 http://identifiers.org/omim/111250 http://purl.obolibrary.org/obo/MONDO_0020615 Landsteiner-Wiener Blood Group System|LW|BLOOD GROUP SYSTEM, LANDSTEINER-WIENER; LW MONDO:0020614 obsolete blood group--lutheran system biolink:Disease mondo OMIM:111200 http://identifiers.org/omim/111200 http://purl.obolibrary.org/obo/MONDO_0020614 BLOOD GROUP--LUTHERAN SYSTEM; LU|Auberger System|LU MONDO:0019636 renal agenesis, unilateral biolink:Disease mondo UMLS:C0266294|NCIT:C101220|Orphanet:93100|MedDRA:10053624|ICD10:Q60.0 Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. ORPHA:93100|MEDDRA:10053624|UMLS:C0266294|NCIT:C101220 http://purl.obolibrary.org/obo/MONDO_0019636 unilateral renal agenesis|congenital single kidney|congenital solitary kidney ordo_clinical_subtype MONDO:0019635 idiopathic achalasia biolink:Disease mondo MedDRA:10036669|UMLS:C1860213|SCTID:715192004|UMLS:C0859976|Orphanet:930|ICD10:K22.0|GARD:0005708 Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition. UMLS:C0859976|UMLS:C1860213|MESH:C536011|MEDDRA:10036669|ORPHA:930|SNOMEDCT:715192004 http://purl.obolibrary.org/obo/MONDO_0019635 idiopathic achalasia of esophagus|primary achalasia|achalasia cardia ordo_disease MONDO:0020613 obsolete blood group--lke biolink:Disease mondo OMIM:111130 http://identifiers.org/omim/111130 http://purl.obolibrary.org/obo/MONDO_0020613 Blood Group--Luke|LKE|BLOOD GROUP--LKE; LKE|Blood Group--Luke, Formerly HP:0004339 Abnormal circulating sulfur amino acid concentration biolink:PhenotypicFeature mondo UMLS:C4021660 Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. http://purl.obolibrary.org/obo/HP_0004339 Abnormality of sulfur-containing amino acids|Abnormal circulating sulphur amino acid concentration MONDO:0019638 renal dysplasia (disease) biolink:Disease mondo COHD:201111|HP:0000110|Orphanet:93108|ICD10:Q61.4 Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. ORPHA:93108 http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia ordo_morphological_anomaly MONDO:0020612 obsolete blood group, kidd system biolink:Disease mondo OMIM:111000 http://identifiers.org/omim/111000 http://purl.obolibrary.org/obo/MONDO_0020612 BLOOD GROUP, KIDD SYSTEM; JK|Kidd Blood Group System|JK HP:0004338 Abnormal circulating aromatic amino acid concentration biolink:PhenotypicFeature mondo UMLS:C4025352 Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. http://purl.obolibrary.org/obo/HP_0004338 Abnormality of aromatic amino acid family metabolism MONDO:0019637 renal hypoplasia (disease) biolink:Disease mondo HP:0000089|ICD10:Q60.3|Orphanet:93101|ICD10:Q60.5|DOID:0080204|MedDRA:10049102|SCTID:32659003|ICD10:Q60.4 Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. ORPHA:93101|MEDDRA:10049102|SNOMEDCT:32659003|DOID:0080204 http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia ordo_morphological_anomaly MONDO:0020611 obsolete blood group--kell system biolink:Disease mondo OMIM:110900 http://identifiers.org/omim/110900 http://purl.obolibrary.org/obo/MONDO_0020611 K(0)|Ko|BLOOD GROUP--KELL SYSTEM; KEL|KEL|Kell-Null|Blood Group--Kell-Cellano System HP:0004337 Abnormality of amino acid metabolism biolink:PhenotypicFeature mondo UMLS:C1328440 Abnormality of an amino acid metabolic process. http://purl.obolibrary.org/obo/HP_0004337 Amino acid levels abnormal MONDO:0019632 Lyme disease biolink:Disease mondo GARD:0012073|COHD:440638|Orphanet:91546|NCIT:C45161|DOID:11729|MedDRA:10025169|ICD10:A69.20|MESH:D008193|ICD10:A69.2|ICD9:088.81|EFO:0008510|UMLS:C0024198|SCTID:48982009 Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi. MEDDRA:10025169|ORPHA:91546|MESH:D008193|NCIT:C45161|UMLS:C0024198|SNOMEDCT:48982009|DOID:11729 http://purl.obolibrary.org/obo/MONDO_0019632 Borrelia burgdorferi infection|Lyme borreliosis|Lyme disease|neuroborreliosis|Borreliella burgdorferi disease or disorder|Borreliella burgdorferi infectious disease|Borreliella burgdorferi caused disease or disorder|Bannworth's syndrome|Borrelia|Bannwarth syndrome|neurological Lyme disease|Lyme neuroborreliosis ordo_disease MONDO:0019631 persistent hyperplastic primary vitreous biolink:Disease mondo SCTID:314270008|Orphanet:91495|OMIMPS:221900|ICD10:Q14.0|MESH:D054514|DOID:0060282 A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.) SNOMEDCT:314270008|ORPHA:91495|UMLS:C0266568|MESH:D054514|DOID:0060282 http://purl.obolibrary.org/obo/MONDO_0019631 persistent fetal vasculature syndrome|PFVS|PHPV|non-syndromic congenital retinal non-attachment|ncRNA disease|congenital retinal detachment ordo_disease MONDO:0019634 familial nasal acilia biolink:Disease mondo SCTID:763532008|Orphanet:922|UMLS:CN206502|GARD:0002254|ICD10:Q30.8 Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. ORPHA:922|SNOMEDCT:763532008|UMLS:CN206502 http://purl.obolibrary.org/obo/MONDO_0019634 gard_rare|ordo_disease MONDO:0019633 relapsing fever biolink:Disease mondo MESH:D012061|ICD10:A68|Orphanet:91547|COHD:440637|DOID:13034|SCTID:420079008|ICD10:A68.9|MedDRA:10038300|ICD10:A68.1|ICD10:A68.0|ICD9:087|ICD9:087.9|UMLS:C0035021 Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex. MEDDRA:10038300|SNOMEDCT:420079008|ORPHA:91547|MESH:D012061|DOID:13034|UMLS:C0035021 http://purl.obolibrary.org/obo/MONDO_0019633 ordo_disease HP:0004332 Abnormal lymphocyte morphology biolink:PhenotypicFeature mondo UMLS:C0427546|SNOMEDCT_US:250284007 An abnormality of lymphocytes. http://purl.obolibrary.org/obo/HP_0004332 Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage MONDO:0019630 congenital ectropion uveae biolink:Disease mondo Orphanet:91491|ICD10:Q10.1 Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities. ORPHA:91491 http://purl.obolibrary.org/obo/MONDO_0019630 ordo_malformation_syndrome UBERON:0004288 skeleton biolink:AnatomicalEntity mondo Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. http://purl.obolibrary.org/obo/UBERON_0004288 set of bones of body|set of all bones MONDO:0020619 obsolete blood group, langereis system biolink:Disease mondo OMIM:111600 http://identifiers.org/omim/111600 http://purl.obolibrary.org/obo/MONDO_0020619 BLOOD GROUP, LANGEREIS SYSTEM; LAN|LAN MONDO:0007658 obsolete spitz nevus biolink:Disease mondo A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. http://purl.obolibrary.org/obo/MONDO_0007658 MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia biolink:Disease mondo MESH:C564237|OMIM:137560|UMLS:C1842035 http://identifiers.org/omim/137560|UMLS:C1842035|MESH:C564237 http://purl.obolibrary.org/obo/MONDO_0007659 moved to 155100|giant platelet syndrome with thrombocytopenia MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome biolink:Disease mondo Orphanet:356|NCIT:C84727|UMLS:C0017495|OMIM:137440|MedDRA:10072075|SCTID:67155006|DOID:4249|MESH:C535800|ICD10:A81.82|GARD:0007690|ICD9:046.71|ICD10:A81.8 A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. NCIT:C84727|http://identifiers.org/omim/137440|ORPHA:356|DOID:4249|MESH:C535800|MEDDRA:10072075|MESH:D016098|UMLS:C0017495|SNOMEDCT:67155006 http://purl.obolibrary.org/obo/MONDO_0007656 cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system|cerebellar ataxia, progressive dementia, and amyloid deposits in CNS|Gerstmann Straussler Scheinker syndrome|amyloidosis cerebral with spongiform encephalopathy|amyloidosis, cerebral, with spongiform encephalopathy|encephalopathy, Subacute spongiform, Gerstmann-Straussler type|prion dementia|Gerstmann-Straussler-Scheinker disease|GSD|cerebral amyloid angiopathy, Prnp-related|Gerstmann-Straussler disease; GSD|subacute spongiform encephalopathy, Gerstmann-Straussler type|encephalopathy subacute spongiform Gerstmann-Straussler type|Gerstmann-Straussler disease ordo_disease MONDO:0007657 giant neutrophil leukocytes biolink:Disease mondo UMLS:C1842039|OMIM:137500 http://identifiers.org/omim/137500|UMLS:C1842039 http://purl.obolibrary.org/obo/MONDO_0007657 giant neutrophil leukocytes MONDO:0007654 genu valgum, st. Helena familial biolink:Disease mondo UMLS:C1842052|GARD:0008429|MESH:C537685|OMIM:137370 http://identifiers.org/omim/137370|MESH:C537685|UMLS:C1842052 http://purl.obolibrary.org/obo/MONDO_0007654 St. Helena familial genu valgum|hereditary pubertal genu valgum|genu valgum, hereditary pubertal|genu valgum, st Helena familial|severe 'knock-knees' and variable lesser malalignment at the elbows and wrists|genu valgum, st. Helena familial gard_rare MONDO:0020610 obsolete blood group, diego system biolink:Disease mondo OMIM:110500 http://identifiers.org/omim/110500 http://purl.obolibrary.org/obo/MONDO_0020610 Diego Blood Group System|BLOOD GROUP, DIEGO SYSTEM; DI|DI MONDO:0007655 fissured tongue biolink:Disease mondo UMLS:C0040412|OMIM:137400|SCTID:52368004|GARD:0006493|ICD10:K14.5|COHD:441896|MESH:D014063|DOID:11514|UMLS:C1842051|ICD9:529.5|ICD9:750.13 SNOMEDCT:52368004|MESH:D014063|http://identifiers.org/omim/137400|UMLS:C1842051|UMLS:C0040412|DOID:11514 http://purl.obolibrary.org/obo/MONDO_0007655 geographic tongue and fissured tongue|tongue, fissured|congenital plicated tongue|lingua plicata|ectopic geographic tongue|Furrowed tongue|fissure of tongue|fissure of tongue, congenital|erythema migrans|scrotal tongue|glossitis, benign migratory|congenital fissure of tongue|geographic and fissured tongue|plicated tongue MONDO:0007652 gastric mucosal hypertrophy biolink:Disease mondo MedDRA:10017807|ICD9:535.20|DOID:8757|SCTID:60002000|OMIM:137280|COHD:201059|Orphanet:2494|GARD:0002436|ICD9:535.21|ICD10:K29.6|UMLS:C0017155|EFO:1000946|MESH:D005758|NCIT:C67277|MedDRA:10017868|ICD9:535.2 MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss. DOID:8757|ORPHA:2494|http://identifiers.org/omim/137280|MEDDRA:10017868|MEDDRA:10017807|SNOMEDCT:60002000|UMLS:C0017155|NCIT:C67277|MESH:D005758 http://purl.obolibrary.org/obo/MONDO_0007652 Menetrier disease|giant hypertrophic gastropathy|gastritis, familial giant hypertrophic|MENETRIER disease|hypoproteinemic hypertrophic gastropathy|giant hypertrophic gastritis|giant hypertrophy of the gastric mucosa|hypertrophic gastritis|Gastroenteropathy, protein losing|familial giant hypertrophic gastritis|hypertrophic gastropathy|giant rugal hypertrophy of stomach|Menetrier's disease|Ménétrier disease ordo_disease MONDO:0007653 genochondromatosis biolink:Disease mondo MESH:C563215|UMLS:C1300229|GARD:0010621|OMIM:137360|SCTID:389264005 http://identifiers.org/omim/137360|UMLS:C1300229|MESH:C563215|SNOMEDCT:389264005 http://purl.obolibrary.org/obo/MONDO_0007653 genochondromatosis prototype_pattern|gard_rare MONDO:0007650 MALT lymphoma biolink:Disease mondo MedDRA:10060707|NCIT:C3898|Orphanet:52417|UMLS:C0242647|OMIM:137245|Wikipedia:MALT_lymphoma|SCTID:277622004|UMLS:C1850900|COHD:40482893|ICDO:9699/3|DOID:0050909|ONCOTREE:EMALT|ICD9:202.80|EFO:0000191|GARD:0006485|ICD10:C88.4 An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001) NCIT:C3898|UMLS:C0242647|UMLS:C1850900|http://identifiers.org/omim/137245|SNOMEDCT:277622004|DOID:0050909|ORPHA:52417|MEDDRA:10060707 http://purl.obolibrary.org/obo/MONDO_0007650 MALToma|mucosa-associated lymphatic tissue lymphoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|MALT lymphoma|MALT-lymphoma|lymphoma, mucosa-associated lymphoid type|lymphoma of mucosa-associated lymphoid tissue|extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)|mucosa-associated lymphoid tissue lymphoma|gastric lymphoma, primary|familial primary gastric lymphoma|Extranodal marginal zone B-cell lymphoma|Immunocytoma|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma) ordo_disease MONDO:0007651 gastrocutaneous syndrome biolink:Disease mondo GARD:0002438|MESH:C535651|Orphanet:2069|OMIM:137270|UMLS:C1850899 ORPHA:2069|UMLS:C1850899|http://identifiers.org/omim/137270|MESH:C535651 http://purl.obolibrary.org/obo/MONDO_0007651 peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia|gastrocutaneous syndrome ordo_disease|gard_rare MONDO:0019629 sclerocornea (disease) biolink:Disease mondo ICD10:Q13.3|DOID:0060252|Orphanet:91490|MESH:C565209|HP:0000647 A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. DOID:0060252|ORPHA:91490|MESH:C565209 http://purl.obolibrary.org/obo/MONDO_0019629 sclerocornea|isolated congenital sclerocornea ordo_morphological_anomaly UBERON:0004275 third ventricle choroid plexus epithelium biolink:AnatomicalEntity mondo A choroid plexus epithelium that is part of a third ventricle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004275 epithelium of chorioid plexus of cerebral hemisphere of third ventricle|third ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|third ventricle epithelium of chorioid plexus of cerebral hemisphere|epithelial tissue of chorioid plexus of cerebral hemisphere of third ventricle|epithelium of choroid plexus of third ventricle|choroid plexus epithelium of third ventricle|epithelial tissue of choroid plexus of third ventricle|chorioid plexus of cerebral hemisphere epithelium of third ventricle|third ventricle choroid plexus epithelial tissue|third ventricle chorioid plexus of cerebral hemisphere epithelial tissue|chorioid plexus of cerebral hemisphere epithelial tissue of third ventricle|choroid plexus epithelial tissue of third ventricle|third ventricle chorioid plexus of cerebral hemisphere epithelium|third ventricle epithelium of choroid plexus|third ventricle epithelial tissue of choroid plexus MONDO:0020607 Liddle syndrome 1 biolink:Disease mondo OMIM:177200 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. http://identifiers.org/omim/177200 http://purl.obolibrary.org/obo/MONDO_0020607 Liddle syndrome 1; LIDLS1|Pseudoaldosteronism|LIDLS1|Liddle syndrome|Liddle syndrome caused by mutation in SCNN1B|SCNN1B Liddle syndrome UBERON:0004276 fourth ventricle choroid plexus epithelium biolink:AnatomicalEntity mondo A choroid plexus epithelium that is part of a fourth ventricle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004276 chorioid plexus of cerebral hemisphere epithelium of fourth ventricle|fourth ventricle epithelium of choroid plexus|epithelial tissue of choroid plexus of fourth ventricle|choroid plexus epithelium of fourth ventricle|fourth ventricle epithelium of chorioid plexus of cerebral hemisphere|epithelial tissue of chorioid plexus of cerebral hemisphere of fourth ventricle|epithelium of choroid plexus of fourth ventricle|epithelium of chorioid plexus of cerebral hemisphere of fourth ventricle|fourth ventricle choroid plexus epithelial tissue|fourth ventricle chorioid plexus of cerebral hemisphere epithelial tissue|fourth ventricle chorioid plexus of cerebral hemisphere epithelium|fourth ventricle epithelial tissue of choroid plexus|choroid plexus epithelial tissue of fourth ventricle|fourth ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|chorioid plexus of cerebral hemisphere epithelial tissue of fourth ventricle MONDO:0020606 sex-linked disease biolink:Disease mondo SCTID:82852009|ICD9:758.81 SNOMEDCT:82852009 http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked hereditary disorder MONDO:0019628 Rieger anomaly biolink:Disease mondo ICD10:Q13.8|Orphanet:91483|MedDRA:10059198 Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly. ORPHA:91483|MEDDRA:10059198 http://purl.obolibrary.org/obo/MONDO_0019628 ordo_morphological_anomaly UBERON:0004273 cartilaginous joint suture biolink:AnatomicalEntity mondo A cranial suture that is part of a cartilaginous joint [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004273 articulatio cartilaginea suture of cranium|cranial suture of cartilaginous joint|articulatio cartilaginea cranial sutures|articulatio cartilaginea cranial suture|cartilaginous joint cranial sutures set|cartilaginous joint suture of cranium|cranium suture of cartilaginous joint|cartilaginous joint cranial sutures|cranial sutures set of articulatio cartilaginea|suture of cranium of articulatio cartilaginea|cranial sutures of cartilaginous joint|cranial sutures of articulatio cartilaginea|suture of cranium of cartilaginous joint|cranial sutures set of cartilaginous joint|cartilaginous joint cranium suture|cranium suture of articulatio cartilaginea|cartilaginous joint cranial suture|articulatio cartilaginea cranium suture|cranial suture of articulatio cartilaginea|articulatio cartilaginea cranial sutures set MONDO:0020605 X-linked recessive disease biolink:Disease mondo DOID:0080012 X-linked recessive form of disease. DOID:0080012 http://purl.obolibrary.org/obo/MONDO_0020605 UBERON:0004274 lateral ventricle choroid plexus epithelium biolink:AnatomicalEntity mondo A choroid plexus epithelium that is part of a lateral ventricle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004274 lateral ventricle epithelium of chorioid plexus of cerebral hemisphere|lateral ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|epithelium of choroid plexus of lateral ventricle|epithelial tissue of chorioid plexus of cerebral hemisphere of lateral ventricle|choroid plexus epithelium of lateral ventricle|epithelial tissue of choroid plexus of lateral ventricle|chorioid plexus of cerebral hemisphere epithelium of lateral ventricle|lateral ventricle choroid plexus epithelial tissue|lateral ventricle chorioid plexus of cerebral hemisphere epithelial tissue|chorioid plexus of cerebral hemisphere epithelial tissue of lateral ventricle|choroid plexus epithelial tissue of lateral ventricle|lateral ventricle chorioid plexus of cerebral hemisphere epithelium|lateral ventricle epithelial tissue of choroid plexus|lateral ventricle epithelium of choroid plexus|epithelium of chorioid plexus of cerebral hemisphere of lateral ventricle MONDO:0020604 X-linked dominant disease biolink:Disease mondo DOID:0080009 X-linked dominant form of disease. DOID:0080009 http://purl.obolibrary.org/obo/MONDO_0020604 UBERON:0004271 outflow tract pericardium biolink:AnatomicalEntity mondo A pericardium that is part of a outflow tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004271 pericardium of outflow tract MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection biolink:Disease mondo UMLS:C0392775|Orphanet:229|SCTID:45894003|ICD10:Q87.4|ICD10:I71.0|GARD:0002249|UMLS:CN118826|OMIMPS:607086|ICD9:447.9|GARD:0001654|SCTID:764965000|Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. SNOMEDCT:764965000|UMLS:C0392775|ORPHA:91387|SNOMEDCT:45894003|ORPHA:229|UMLS:CN118826 http://purl.obolibrary.org/obo/MONDO_0019625 Erdheim cystic medial necrosis of aorta|familial aortic aneurysm|FTAAD|cystic medial necrosis of aorta|Erdheim disease|familial thoracic aortic aneurysm and dissection|familial aortic dissection|familial thoracic aortic aneurysm|annuloaortic ectasia|familial TAAD ordo_disease|gard_rare|prototype_pattern MONDO:0020603 X-linked chondrodysplasia punctata 2 biolink:Disease mondo DOID:0080352|Orphanet:35173|GARD:0006189 X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. UMLS:C0282102|DOID:0080352|ORPHA:35173 http://purl.obolibrary.org/obo/MONDO_0020603 Conradi-Hunermann-Happle syndrome|Conrad Hunermann Happle syndrome|chondrodysplasia punctata 2 X-linked dominant|chondrodysplasia punctata 2, X-linked dominant|EBP chondrodysplasia punctata|Conradi-Hünermann-Happle syndrome|Conradi-Hunermann syndrome|Happle syndrome|chondrodysplasia punctata 2, X-linked dominant; CDPX2|CDPX2|X-linked chondrodysplasia punctata type 2|CDPXD|Conradi Hunermann syndrome|chondrodysplasia punctata caused by mutation in EBP MONDO:0019624 acquired angioedema biolink:Disease mondo UMLS:C2931758|ICD10:T78.3|MESH:C538173|Orphanet:91385|GARD:0008605 Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. UMLS:C2931758|MESH:C538173|ORPHA:91385 http://purl.obolibrary.org/obo/MONDO_0019624 acquired angioneurotic edema|acquired angioedema|angioedema, acquired|acquired bradykinine-induced angioedema|AAE|acquired C1 inhibitor deficiency|acquired non histamine-induced angioedema ordo_disease|gard_rare MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 biolink:Disease mondo DOID:0060248|OMIM:312870 Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. http://identifiers.org/omim/312870|DOID:0060248 http://purl.obolibrary.org/obo/MONDO_0020602 dysplasia gigantism syndrome, X-linked|GPC3 Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome caused by mutation in GPC3|Simpson-Golabi-Behmel syndrome type 1|Golabi-Rosen syndrome|Simpson-Golabi-Behmel syndrome, type 1; SGBS1|Simpson dysmorphia syndrome|bulldog syndrome|SGBS1|Simpson-Golabi-Behmel syndrome, type 1|Sgbs|DGSX Golabi-Rosen syndrome HP:0004349 Reduced bone mineral density biolink:PhenotypicFeature mondo UMLS:C2674432 A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. http://purl.obolibrary.org/obo/HP_0004349 Low solidness and mass of the bones|Decreased bone mineral density Z score|Decreased bone mineral density MONDO:0019627 isolated congenital alacrima biolink:Disease mondo Orphanet:91416|SCTID:717262004|ICD10:Q10.6|UMLS:C4273963 Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. SNOMEDCT:717262004|ORPHA:91416|UMLS:C4273963 http://purl.obolibrary.org/obo/MONDO_0019627 nonsyndromic congenital alacrima ordo_disease MONDO:0020601 mosquito-borne viral encephalitis biolink:Disease mondo NCIT:C34823 Viral encephalitis that is transmitted by mosquitos. NCIT:C34823 http://purl.obolibrary.org/obo/MONDO_0020601 mosquito-borne viral encephalitis MONDO:0020600 acute pharyngitis biolink:Disease mondo NCIT:C34355|SCTID:363746003 An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. NCIT:C34355|SNOMEDCT:363746003 http://purl.obolibrary.org/obo/MONDO_0020600 acute pharyngitis|pharyngitis, acute UBERON:0004270 lower leg connective tissue biolink:AnatomicalEntity mondo A portion of connective tissue that is part of a lower leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004270 HP:0004348 Abnormality of bone mineral density biolink:PhenotypicFeature mondo UMLS:C4021657 This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineralisation and ossification MONDO:0019626 isolated ankyloblepharon filiforme adnatum biolink:Disease mondo ICD10:Q10.3|Orphanet:91397 Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors. ORPHA:91397 http://purl.obolibrary.org/obo/MONDO_0019626 ordo_morphological_anomaly MONDO:0019621 chronic pneumonitis of infancy biolink:Disease mondo UMLS:CN206472|Orphanet:91359|ICD10:J84.0|UMLS:C3872848|SCTID:708026002 Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD). ORPHA:91359|SNOMEDCT:708026002|UMLS:CN206472|UMLS:C3872848 http://purl.obolibrary.org/obo/MONDO_0019621 CPI ordo_disease MONDO:0019620 congenital esophageal diverticulum biolink:Disease mondo ICD9:750.4|Orphanet:91358|SCTID:204667006|ICD10:Q39.6 Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations. ORPHA:91358|SNOMEDCT:204667006 http://purl.obolibrary.org/obo/MONDO_0019620 congenital esophageal pouch ordo_morphological_anomaly MONDO:0019623 hereditary angioedema biolink:Disease mondo MESH:D054179|GARD:0005979|Orphanet:91378|UMLS:CN239191|NCIT:C84758|UMLS:C0019243|DOID:14735|ICD10:D84.1|SCTID:82966003|MedDRA:10019860 Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. NCIT:C84758|UMLS:CN239191|ORPHA:91378|MESH:D054179|MEDDRA:10019860|SNOMEDCT:82966003|UMLS:C0019243|DOID:14735 http://purl.obolibrary.org/obo/MONDO_0019623 hereditary angioedema|hereditary bradykinine-induced angioedema|familial angioneurotic edema|deficiency of C1 esterase inhibitor|hereditary angioneurotic edema|HAE|HANE|angioedema, hereditary|hereditary non histamine-induced angioedema ordo_disease MONDO:0019622 non-specific interstitial pneumonia biolink:Disease mondo SCTID:129452008|NCIT:C35717|UMLS:C1290344|ICD10:J84.8|DOID:2801|ICD9:516.8|Orphanet:91364 Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia. UMLS:C1290344|ORPHA:91364|NCIT:C35717|SNOMEDCT:129452008|DOID:2801 http://purl.obolibrary.org/obo/MONDO_0019622 nonspecific interstitial pneumonia|non-specific idiopathic interstitial pneumonia|NSIP ordo_disease MONDO:0020609 obsolete blood group, colton system biolink:Disease mondo OMIM:110450 http://identifiers.org/omim/110450 http://purl.obolibrary.org/obo/MONDO_0020609 Colton Blood Group System|CO|BLOOD GROUP, COLTON SYSTEM; CO|Colton-Null Phenotype HP:0004341 Abnormality of vitamin B12 metabolism biolink:PhenotypicFeature mondo UMLS:C4021658 http://purl.obolibrary.org/obo/HP_0004341 Abnormality of the vitamin B12 metabolism UBERON:0004277 eye muscle biolink:AnatomicalEntity mondo A muscle that is part of the eye region. http://purl.obolibrary.org/obo/UBERON_0004277 HP:0004340 Abnormality of vitamin B metabolism biolink:PhenotypicFeature mondo UMLS:C4021659 http://purl.obolibrary.org/obo/HP_0004340 Abnormality of B-vitamin metabolism MONDO:0020608 obsolete blood group--ahonen biolink:Disease mondo OMIM:110350 http://identifiers.org/omim/110350 http://purl.obolibrary.org/obo/MONDO_0020608 BLOOD GROUP--AHONEN; AN NCBITaxon:1643685 Borreliaceae organism taxon mondo PMID:23908650|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1643685 GO:0007632 visual behavior biolink:OntologyClass mondo The behavior of an organism in response to a visual stimulus. http://purl.obolibrary.org/obo/GO_0007632 behavioral response to visual stimulus|visual behaviour|behavioural response to visual stimulus GO:0007631 feeding behavior biolink:OntologyClass mondo Behavior associated with the intake of food. http://purl.obolibrary.org/obo/GO_0007631 feeding from xylem of other organism|feeding from plant phloem|behavioral response to food|injection of substance into other organism during feeding on blood of other organism|feeding on blood of other organism|feeding on or from other organism|feeding from vascular tissue of another organism|hematophagy|feeding behaviour|feeding from tissue of other organism|eating|feeding from phloem of other organism|feeding on plant sap|behavioural response to food|taking of blood meal NCBITaxon:1643688 Leptospirales organism taxon mondo PMID:23908650|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1643688 Leptospiriales UBERON:0006846 surface groove biolink:AnatomicalEntity mondo A furrow or an incomplete tube. http://purl.obolibrary.org/obo/UBERON_0006846 groove UBERON:0006843 root of cranial nerve biolink:AnatomicalEntity mondo The initial segment of a cranial nerve, leaving the central nervous system. http://purl.obolibrary.org/obo/UBERON_0006843 cranial nerve root|cranial neural root CHEBI:33484 chalcogen oxoacid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33484 chalcogen oxoacids|chalcogen oxoacid CHEBI:33485 chalcogen oxoanion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33485 chalcogen oxoanion|chalcogen oxoanions GO:0019627 urea metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving urea, the water soluble compound O=C-(NH2)2. http://purl.obolibrary.org/obo/GO_0019627 urea metabolism HGNC:2600 CYP21A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2600 UBERON:0006833 lumen of trachea biolink:AnatomicalEntity mondo An anatomical space that surrounded_by a trachea. http://purl.obolibrary.org/obo/UBERON_0006833 lumen of cartilaginous trachea|tracheal lumen CHEBI:33482 sulfur oxoanion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33482 sulfur oxoanions|sulfur oxoanion|oxoanions of sulfur GO:0007618 mating biolink:OntologyClass mondo The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes. http://purl.obolibrary.org/obo/GO_0007618 GO:0007617 mating behavior biolink:OntologyClass mondo The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes. http://purl.obolibrary.org/obo/GO_0007617 mating behaviour HGNC:2606 CYP27B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2606 HGNC:2605 CYP27A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2605 GO:0007613 memory biolink:OntologyClass mondo The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). http://purl.obolibrary.org/obo/GO_0007613 GO:0007611 learning or memory biolink:OntologyClass mondo The acquisition and processing of information and/or the storage and retrieval of this information over time. http://purl.obolibrary.org/obo/GO_0007611 UBERON:0006815 areolar connective tissue biolink:AnatomicalEntity mondo Loose connective tissue located at the outer and inner layers of organs. Examples: submucosal connective tissue, tunica adventitia of artery, papillary dermis, superficial fascia of dorsum of hand. http://purl.obolibrary.org/obo/UBERON_0006815 loose areolar connective tissue|loose connective tissue|areolar tissue HGNC:2602 CYP24A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2602 GO:0007610 behavior biolink:OntologyClass mondo The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. http://purl.obolibrary.org/obo/GO_0007610 behaviour|behavioural response to stimulus|single-organism behavior|behavioral response to stimulus CHEBI:33459 pnictogen oxoanion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33459 pnictogen oxoanion|pnictogen oxoanions CHEBI:33452 benzylic group biolink:ChemicalSubstance mondo Arylmethyl groups and derivatives formed by substitution: ArCR2-. http://purl.obolibrary.org/obo/CHEBI_33452 benzylic groups|benzylic groups|groupe benzylique|benzylic group NCBITaxon:127916 Ichthyosporea organism taxon mondo PMID:10449446|PMID:12142489|GC_ID:1|PMID:8876236 http://purl.obolibrary.org/obo/NCBITaxon_127916 Mesomycetozoa|DRIP clade|Mesomycetozoea CHEBI:33457 phosphorus oxoacid biolink:ChemicalSubstance mondo A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons. http://purl.obolibrary.org/obo/CHEBI_33457 oxoacids of phosphorus|phosphorus oxoacid|phosphorus oxoacids|Oxosaeure des Phosphors HGNC:2610 CYP2A6 biolink:OntologyClass mondo http://identifiers.org/hgnc/2610 UBERON:0006822 proximal epiphysis of ulna biolink:AnatomicalEntity mondo The head of ulna presents an articular surface, part of which, of an oval or semilunar form, is directed downward, and articulates with the upper surface of the triangular articular disk which separates it from the wrist-joint; the remaining portion, directed lateralward, is narrow, convex, and received into the ulnar notch of the radius. http://purl.obolibrary.org/obo/UBERON_0006822 head of ulna|upper end of ulna|caput ulnae|proximal end of ulna|caput ulnae NCBITaxon:6029 Microsporidia organism taxon mondo PMID:28808018|PMID:10563021|PMID:9892676|PMID:12684019|PMID:17051209|GC_ID:1|PMID:12142484 http://purl.obolibrary.org/obo/NCBITaxon_6029 Microspora|microsporidians|microsporidians|Microsporida|Microsporea UBERON:0006807 ectepicondyle of humerus biolink:AnatomicalEntity mondo A bony projection on the distal epiphysis of the humerus that is the attachment site for the extensor muscles of the distal parts of the forelimb. In humans, this is known as the lateral epicondyle, but the position varies across tetrapods. http://purl.obolibrary.org/obo/UBERON_0006807 epicondylus lateralis (humerus)|epicondylus lateralis humeri|dorsal epicondyle of the humerus|dorsal epicondyle of humerus|lateral epicondyle of humerus|lateral epicondyle|ectepicondyle|e. lateralis humeri HGNC:2615 CYP2B6 biolink:OntologyClass mondo http://identifiers.org/hgnc/2615 GO:0007623 circadian rhythm biolink:OntologyClass mondo Any biological process in an organism that recurs with a regularity of approximately 24 hours. http://purl.obolibrary.org/obo/GO_0007623 response to circadian rhythm|circadian process|circadian response GO:0007622 rhythmic behavior biolink:OntologyClass mondo The specific behavior of an organism that recur with measured regularity. http://purl.obolibrary.org/obo/GO_0007622 rhythmic behavioural response to stimulus|rhythmic behavioral response to stimulus|rhythmic behaviour GO:0007620 copulation biolink:OntologyClass mondo The act of sexual union between male and female, involving the transfer of sperm. http://purl.obolibrary.org/obo/GO_0007620 CHEBI:33465 elemental pnictogen biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33465 elemental pnictogen|elemental pnictogens HGNC:2623 CYP2C9 biolink:OntologyClass mondo http://identifiers.org/hgnc/2623 UBERON:0006813 nasal skeleton biolink:AnatomicalEntity mondo Structural framework that provides support to the nasal sacs and ducts. http://purl.obolibrary.org/obo/UBERON_0006813 skeleton of nose HGNC:2621 CYP2C19 biolink:OntologyClass mondo http://identifiers.org/hgnc/2621 NCBITaxon:6035 Encephalitozoon cuniculi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6035 UBERON:0006810 olecranon biolink:AnatomicalEntity mondo The olecranon is a large, thick, curved bony eminence of the forearm that projects behind the elbow. It is situated at the upper (proximal) end of the ulna, one of the two bones in the forearm. When the hand faces forward the olecranon faces towards the back (posteriorly). It is bent forward at the summit so as to present a prominent lip which is received into the olecranon fossa of the humerus in extension of the forearm. Its base is contracted where it joins the body and the narrowest part of the upper end of the ulna. Its posterior surface, directed backward, is triangular, smooth, subcutaneous, and covered by a bursa. Its superior surface is of quadrilateral form, marked behind by a rough impression for the insertion of the Triceps brachii; and in front, near the margin, by a slight transverse groove for the attachment of part of the posterior ligament of the elbow-joint. Its anterior surface is smooth, concave, and forms the upper part of the semilunar notch. Its borders present continuations of the groove on the margin of the superior surface; they serve for the attachment of ligaments, viz. , the back part of the ulnar collateral ligament medially, and the posterior ligament laterally. From the medial border a part of the Flexor carpi ulnaris arises; while to the lateral border the anconeus muscle is attached. http://purl.obolibrary.org/obo/UBERON_0006810 olecranon process of ulna|ulnar process|olecranon process NCBITaxon:6032 Apansporoblastina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6032 NCBITaxon:6033 Encephalitozoon organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6033 Septata CHEBI:33461 phosphorus oxoanion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33461 oxoanions of phosphorus|phosphorus oxoanion|phosphorus oxoanions RO:0002093 ends_during biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002093 UBERON:0004219 urethra smooth muscle layer biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a urethra [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004219 muscular layer of urethra|smooth muscle tissue of urethra|muscle layer of urethra|urethral smooth muscle|smooth muscle of urethra|tunica muscularis urethrae|urethra smooth muscle tissue|muscular coat of urethra HGNC:2625 CYP2D6 biolink:OntologyClass mondo http://identifiers.org/hgnc/2625 RO:0002090 immediately precedes biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002090 UBERON:0004220 large intestine smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a large intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004220 large intestine non-striated muscle|smooth muscle tissue of large intestine|smooth muscle of large intestine|involuntary muscle of large intestine|non-striated muscle of large intestine|large intestine involuntary muscle|large intestine smooth muscle tissue UBERON:0004221 intestine smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004221 involuntary muscle of intestine|non-striated muscle of intestine|intestine smooth muscle tissue|bowel non-striated muscle|smooth muscle tissue of bowel|smooth muscle of bowel|intestinal smooth muscle|bowel involuntary muscle|bowel smooth muscle|involuntary muscle of bowel|bowel smooth muscle tissue|non-striated muscle of bowel|intestine non-striated muscle|smooth muscle tissue of intestine|intestinal muscularis|intestine involuntary muscle|smooth muscle of intestine CHEBI:33431 elemental chlorine biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33431 CHEBI:33432 monoatomic chlorine biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33432 atomic chlorine CHEBI:33433 monoatomic halogen biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33433 monoatomic halogens CHEBI:33434 elemental halogen biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33434 elemental halogen|elemental halogens UBERON:0004228 urinary bladder smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a urinary bladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004228 smooth muscle tissue of urinary bladder|smooth muscle of urinary bladder|bladder smooth muscle tissue|urinary bladder involuntary muscle|involuntary muscle of urinary bladder|bladder non-striated muscle|non-striated muscle of urinary bladder|smooth muscle tissue of bladder|urinary bladder smooth muscle tissue|smooth muscle of bladder|bladder smooth muscle|urinary bladder muscle|involuntary muscle of bladder|non-striated muscle of bladder|bladder involuntary muscle|smooth muscle layer of bladder|urinary bladder non-striated muscle UBERON:0004229 urinary bladder trigone smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a trigone of urinary bladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004229 trigone of urinary bladder involuntary muscle|vesical trigone smooth muscle tissue|non-striated muscle of Lieutaud's trigone|trigone of urinary bladder non-striated muscle|urinary bladder trigone smooth muscle tissue|involuntary muscle of Lieutaud's trigone|deep trigone non-striated muscle|urinary bladder trigone muscle|smooth muscle of trigone of bladder|smooth muscle tissue of trigone of bladder|deep trigone smooth muscle tissue|smooth muscle of Lieutaud's trigone|urinary bladder trigone non-striated muscle|trigone of urinary bladder smooth muscle tissue|vesical trigone non-striated muscle|smooth muscle tissue of Lieutaud's trigone|trigone of urinary bladder smooth muscle|deep trigone smooth muscle|smooth muscle tissue of urinary bladder trigone|trigone of bladder non-striated muscle|smooth muscle of urinary bladder trigone|smooth muscle tissue of vesical trigone|smooth muscle of vesical trigone|non-striated muscle of trigone of urinary bladder|Lieutaud's trigone involuntary muscle|Lieutaud's trigone non-striated muscle|involuntary muscle of trigone of urinary bladder|non-striated muscle of deep trigone|vesical trigone smooth muscle|trigone of bladder involuntary muscle|involuntary muscle of deep trigone|involuntary muscle of urinary bladder trigone|non-striated muscle of urinary bladder trigone|trigone of bladder smooth muscle|involuntary muscle of vesical trigone|non-striated muscle of vesical trigone|Lieutaud's trigone smooth muscle tissue|smooth muscle of trigone of urinary bladder|vesical trigone involuntary muscle|smooth muscle of deep trigone|smooth muscle tissue of trigone of urinary bladder|urinary bladder trigone involuntary muscle|Lieutaud's trigone smooth muscle|non-striated muscle of trigone of bladder|smooth muscle tissue of deep trigone|trigone of bladder smooth muscle tissue|involuntary muscle of trigone of bladder|deep trigone involuntary muscle UBERON:0004226 gastrointestinal system smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004226 smooth muscle tissue of gastrointestinal system UBERON:0004227 kidney pelvis smooth muscle biolink:AnatomicalEntity mondo the smooth muscle tissue surrounding the urothelium of the kidney pelvis http://purl.obolibrary.org/obo/UBERON_0004227 smooth muscle tissue of renal pelvis|pelvic smooth muscle|renal pelvis smooth muscle|kidney pelvis smooth muscle UBERON:0004224 muscular coat of vas deferens biolink:AnatomicalEntity mondo A muscular coat that is part of a vas deferens [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004224 muscle layer of ductus deferens|muscle layer of vas deferens|tunica muscularis (ductus deferens)|tunica muscularis ductus deferentis|muscularis of vas deferens|muscular coat of ductus deferens|muscle layer of deferent duct|muscular layer of ductus deferens UBERON:0004225 respiratory system smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004225 respiratory smooth muscle|airway smooth muscle cell|airway smooth muscle|smooth muscle of respiratory system UBERON:0004222 stomach smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a stomach [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004222 smooth muscle tissue of stomach|non-striated muscle of ventriculus|smooth muscle of stomach|stomach smooth muscle tissue|gastric muscle|ventriculus involuntary muscle|involuntary muscle of stomach|non-striated muscle of stomach|ventriculus smooth muscle tissue|stomach muscle|ventriculus non-striated muscle|smooth muscle tissue of ventriculus|smooth muscle of ventriculus|gastric smooth muscle|stomach involuntary muscle|ventriculus smooth muscle|stomach non-striated muscle|involuntary muscle of ventriculus UBERON:0004223 vagina smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a vagina [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004223 smooth muscle of vagina|smooth muscle tissue of vagina|vagina non-striated muscle|vagina involuntary muscle|vagina smooth muscle tissue|non-striated muscle of vagina|vagina smooth muscle|vaginal smooth muscle|involuntary muscle of vagina NCBITaxon:54281 Chrysomyini organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_54281 GO:0007605 sensory perception of sound biolink:OntologyClass mondo The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. http://purl.obolibrary.org/obo/GO_0007605 perception of sound|hearing HGNC:2638 CYP3A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/2638 NCBITaxon:54285 Oestrinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_54285 UBERON:0004208 nephrogenic mesenchyme biolink:AnatomicalEntity mondo Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron http://purl.obolibrary.org/obo/UBERON_0004208 mesenchyme of nephron|nephron mesenchyme GO:0007601 visual perception biolink:OntologyClass mondo The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. http://purl.obolibrary.org/obo/GO_0007601 vision|sense of sight|sensory visual perception GO:0007600 sensory perception biolink:OntologyClass mondo The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/GO_0007600 UBERON:0004209 renal vesicle biolink:AnatomicalEntity mondo The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. http://purl.obolibrary.org/obo/UBERON_0004209 stage I nephron RO:0002084 during which ends biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002084 RO:0002086 ends after biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002086 RO:0002087 immediately preceded by biolink:OntologyClass mondo X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) http://purl.obolibrary.org/obo/RO_0002087 is directly preceded by|is immediately preceded by|directly preceded by|starts_at_end_of UBERON:0006872 handplate apical ectodermal ridge biolink:AnatomicalEntity mondo An apical ectodermal ridge that is part of a handplate. http://purl.obolibrary.org/obo/UBERON_0006872 UBERON:0006871 embryonic footplate biolink:AnatomicalEntity mondo the distal elements of the developing limb of vertebrates that will give rise to the pes (foot) http://purl.obolibrary.org/obo/UBERON_0006871 foot disk|footplate|foot plate|distal part of hindlimb bud UBERON:0004217 upper arm nerve biolink:AnatomicalEntity mondo A nerve that is part of a forelimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004217 UBERON:0004218 lower leg nerve biolink:AnatomicalEntity mondo A nerve that is part of a lower leg [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004218 UBERON:0004215 back nerve biolink:AnatomicalEntity mondo A nerve that is part of a back [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004215 nerve of back UBERON:0006877 vasculature of liver biolink:AnatomicalEntity mondo A vasculature that is part of a liver. http://purl.obolibrary.org/obo/UBERON_0006877 liver vascular system|hepatic vascular element|liver vascular element|hepatic vasculature UBERON:0004216 lower arm nerve biolink:AnatomicalEntity mondo A nerve that is part of a lower arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004216 UBERON:0006876 vasculature of organ biolink:AnatomicalEntity mondo A vasculature that is part of a organ. http://purl.obolibrary.org/obo/UBERON_0006876 set of blood vessels of organ|organ vasculature UBERON:0004214 upper leg nerve biolink:AnatomicalEntity mondo A nerve that is part of a hindlimb stylopod [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004214 lower extremity stylopod nerve|hindlimb stylopod nerve|hind limb stylopod nerve|thigh RELATED UBERON:0006875 embryonic handplate biolink:AnatomicalEntity mondo the distal elements of the developing limb of vertebrates that will give rise to the manus (hand) http://purl.obolibrary.org/obo/UBERON_0006875 handplate|hand plate|distal part of forelimb bud UBERON:0004211 nephron epithelium biolink:AnatomicalEntity mondo The nephron epithelium is a tissue that covers the surface of a nephron http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelial tissue|epithelium of nephron|epithelial tissue of nephron UBERON:0004212 glomerular capillary biolink:AnatomicalEntity mondo the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus http://purl.obolibrary.org/obo/UBERON_0004212 capillary vessel of renal glomerulus|renal glomerulus blood capillary|capillary of renal glomerulus|renal glomerulus capillary vessel|blood capillary of renal glomerulus|glomerular capillaries|glomerular capillary system|renal glomerulus capillary NCBITaxon:54292 Apodemus flavicollis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_54292 Sylvaemus flavicollis|Yellow-necked field mouse HGNC:2649 CYP51A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2649 HP:0006919 Abnormal aggressive, impulsive or violent behavior biolink:PhenotypicFeature mondo UMLS:C4024963 http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behaviour|Aggressive/violent behavior UBERON:0006861 diaphysis proper biolink:AnatomicalEntity mondo Subdivision of long bone which forms the part of the bone between two metaphyses. Note that the diaphysis includes the metaphyses, but the diaphysis proper excludes these. http://purl.obolibrary.org/obo/UBERON_0006861 long bone diaphysis|shaft proper of long bone|body proper of long bone UBERON:0006868 seminal fluid secreting gland biolink:AnatomicalEntity mondo A gland that secretes a seminal fluid. http://purl.obolibrary.org/obo/UBERON_0006868 UBERON:0004204 outer medullary collecting duct biolink:AnatomicalEntity mondo The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla http://purl.obolibrary.org/obo/UBERON_0004204 kidney outer medulla collecting duct|outer renal medulla collecting duct UBERON:0004205 inner medullary collecting duct biolink:AnatomicalEntity mondo The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla http://purl.obolibrary.org/obo/UBERON_0004205 inner renal medulla collecting duct|kidney inner medulla collecting duct|papillary collecting duct UBERON:0006866 terminal part of digestive tract biolink:AnatomicalEntity mondo The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. http://purl.obolibrary.org/obo/UBERON_0006866 terminal section of digestive tract|rectal part of digestive tract|rectum UBERON:0006865 metaphysis of femur biolink:AnatomicalEntity mondo A metaphysis that is part of a femur. http://purl.obolibrary.org/obo/UBERON_0006865 femoral metaphysis UBERON:0004202 kidney outer medulla outer stripe biolink:AnatomicalEntity mondo The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules http://purl.obolibrary.org/obo/UBERON_0004202 outer medulla outer stripe|outer stripe of outer medulla|stria externa medullae renalis|outer stripe of renal medulla|outer stripe of medulla of kidney|outer stripe HGNC:2652 CYP7B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2652 UBERON:0004203 cortical collecting duct biolink:AnatomicalEntity mondo The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex http://purl.obolibrary.org/obo/UBERON_0004203 renal cortex collecting duct|kidney cortex collecting duct UBERON:0006864 distal metaphysis of femur biolink:AnatomicalEntity mondo A distal metaphysis that is part of a femur. http://purl.obolibrary.org/obo/UBERON_0006864 UBERON:0004200 kidney pyramid biolink:AnatomicalEntity mondo Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. http://purl.obolibrary.org/obo/UBERON_0004200 pyramid of Malphigi|Malpighian pyramid|pyramides renales|pyramid of Malpighi|medullary pyramid|renal medullary region|pyramis renalis|renal pyramid|pyramid|Malpighian pyramid|Malphigian pyramid UBERON:0006863 proximal metaphysis of femur biolink:AnatomicalEntity mondo A proximal metaphysis that is part of a femur. http://purl.obolibrary.org/obo/UBERON_0006863 UBERON:0006862 diaphysis of femur biolink:AnatomicalEntity mondo A diaphysis that is part of a femur[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0006862 shaft of femur|femoral shaft|femoral diaphysis|corpus femoris|body of femur UBERON:0006849 scapula biolink:AnatomicalEntity mondo Endochondral bone that is dorsoventrally compressed and provides attachment site for muscles of the pectoral appendage. http://purl.obolibrary.org/obo/UBERON_0006849 scapula bone|hypercoracocïdeum@fr|scapulas|scapula@fr|shoulder blade|hypercoracocïde@fr|scapulae CHEBI:33429 monoatomic monoanion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33429 monoatomic monoanions NCBITaxon:6072 Eumetazoa organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6072 CHEBI:33424 sulfur oxoacid derivative biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33424 sulfur oxoacid derivative|sulfur oxoacid derivatives UBERON:0006858 adrenal/interrenal gland biolink:AnatomicalEntity mondo This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] http://purl.obolibrary.org/obo/UBERON_0006858 adrenal gland/interrenal tissue|suprarenal gland - interrenal gland|adrenal gland - interrenal gland|adrenal - interrenal gland HGNC:2666 DAG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2666 HGNC:2665 CD55 biolink:OntologyClass mondo http://identifiers.org/hgnc/2665 UBERON:0006855 muscular coat of ureter biolink:AnatomicalEntity mondo A muscular coat that is part of a ureter. http://purl.obolibrary.org/obo/UBERON_0006855 muscular coat of ureter|muscularis of ureter|tunica muscularis (ureter)|ureteral smooth muscle layer|tunica muscularis ureteris|muscular layer of ureter UBERON:0006853 renal cortex tubule biolink:AnatomicalEntity mondo A region of nephron tubule that is part of a cortex of kidney. http://purl.obolibrary.org/obo/UBERON_0006853 kidney cortex tubule|cortical tubule HGNC:2661 DAB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2661 FOODON:03411215 obsolete: algae, bacteria or fungus biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=B1215 http://purl.obolibrary.org/obo/FOODON_03411215 RO:0002170 connected to biolink:OntologyClass mondo a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b http://purl.obolibrary.org/obo/RO_0002170 FOODON:03411213 nut producing plant biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03411213 RO:0002176 connects biolink:OntologyClass mondo c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system. http://purl.obolibrary.org/obo/RO_0002176 PATO:0002304 increased process quality biolink:OntologyClass mondo A quality of a process that has a value that is increased compared to normal or average. http://purl.obolibrary.org/obo/PATO_0002304 GO:0005179 hormone activity biolink:OntologyClass mondo The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. http://purl.obolibrary.org/obo/GO_0005179 lipopeptide hormone|peptide hormone|glycopeptide hormone|cAMP generating peptide activity RO:0002177 attaches_to_part_of biolink:OntologyClass mondo a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. http://purl.obolibrary.org/obo/RO_0002177 PATO:0002305 increased object quality biolink:OntologyClass mondo A quality of an object that has a value that is increased compared to normal or average. http://purl.obolibrary.org/obo/PATO_0002305 RO:0002178 supplies biolink:OntologyClass mondo Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy. http://purl.obolibrary.org/obo/RO_0002178 arterial supply of PATO:0002302 decreased process quality biolink:OntologyClass mondo A quality of a process that has a value that is decreased compared to normal or average. http://purl.obolibrary.org/obo/PATO_0002302 RO:0002179 drains biolink:OntologyClass mondo Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. http://purl.obolibrary.org/obo/RO_0002179 drains from|drains blood from PATO:0002303 decreased object quality biolink:OntologyClass mondo A quality of an object that has a value that is decreased compared to normal or average. http://purl.obolibrary.org/obo/PATO_0002303 GO:0044782 cilium organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/GO_0044782 microtubule-based flagellum organization PATO:0002300 increased quality biolink:OntologyClass mondo A quality that has a value that is increased compared to normal or average. http://purl.obolibrary.org/obo/PATO_0002300 GO:0042127 regulation of cell population proliferation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell proliferation. http://purl.obolibrary.org/obo/GO_0042127 regulation of cell proliferation PATO:0002301 decreased quality biolink:OntologyClass mondo A quality that has a value that is decreased compared to normal or average. http://purl.obolibrary.org/obo/PATO_0002301 GO:0017171 serine hydrolase activity biolink:OntologyClass mondo Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). http://purl.obolibrary.org/obo/GO_0017171 RO:0002160 only in taxon biolink:OntologyClass mondo x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. http://purl.obolibrary.org/obo/RO_0002160 FOODON:03411222 fish biolink:OntologyClass mondo Fish are the gill-bearing aquatic craniate animals that lack limbs with digits. Most fish are ectothermic ("cold-blooded"), allowing their body temperatures to vary as ambient temperatures change, though some of the large active swimmers like white shark and tuna can hold a higher core temperature. http://purl.obolibrary.org/obo/FOODON_03411222 GO:0032787 monocarboxylic acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-). http://purl.obolibrary.org/obo/GO_0032787 monocarboxylate metabolic process|monocarboxylic acid metabolism GO:0042133 neurotransmitter metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. http://purl.obolibrary.org/obo/GO_0042133 neurotransmitter metabolism GO:0042135 neurotransmitter catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. http://purl.obolibrary.org/obo/GO_0042135 neurotransmitter breakdown|neurotransmitter degradation|neurotransmitter catabolism RO:0002161 never in taxon biolink:OntologyClass mondo RO:0002161 http://purl.obolibrary.org/obo/RO_0002161 RO:0002162 in taxon biolink:OntologyClass mondo RO:0002162 x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. http://purl.obolibrary.org/obo/RO_0002162 RO:0002163 spatially disjoint from biolink:OntologyClass mondo A is spatially_disjoint_from B if and only if they have no parts in common http://purl.obolibrary.org/obo/RO_0002163 GO:0005183 gonadotropin hormone-releasing hormone activity biolink:OntologyClass mondo The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. http://purl.obolibrary.org/obo/GO_0005183 LH/FSH-RF|gonadotrophin hormone-releasing hormone activity|luteinizing hormone/follicle-stimulating hormone releasing factor activity|GnRH activity|luteinizing hormone-releasing hormone activity|luteinizing hormone-releasing factor activity|LHRH activity PATO:0002318 superelliptic biolink:OntologyClass mondo A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt http://purl.obolibrary.org/obo/PATO_0002318 Lamé curve RO:0002158 shares ancestor with biolink:OntologyClass mondo two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a. http://purl.obolibrary.org/obo/RO_0002158 UBERON:5102389 manual digit digitopodial skeleton biolink:AnatomicalEntity mondo A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_5102389 manual digit|manual digit skeleton GO:0017168 5-oxoprolinase (ATP-hydrolyzing) activity biolink:OntologyClass mondo Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. http://purl.obolibrary.org/obo/GO_0017168 5-oxo-L-proline amidohydrolase (ATP-hydrolysing)|pyroglutamase activity|pyroglutamase (ATP-hydrolysing)|5-oxo-L-prolinase activity|5-oxoprolinase activity|L-pyroglutamate hydrolase activity|pyroglutamate hydrolase activity|pyroglutamic hydrolase activity|pyroglutamase (ATP-hydrolyzing) activity|5-oxoprolinase (ATP-hydrolysing)|oxoprolinase activity|5-OPase activity FOODON:03411237 shrimp biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03411237 NCBITaxon:1511862 Carnivore amdoparvovirus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1511862 RO:0002156 derived by descent from biolink:OntologyClass mondo d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a. http://purl.obolibrary.org/obo/RO_0002156 RO:0002157 has derived by descendant biolink:OntologyClass mondo inverse of derived by descent from http://purl.obolibrary.org/obo/RO_0002157 RO:0002150 continuous_with biolink:OntologyClass mondo X continuous_with Y if and only if X and Y share a fiat boundary. http://purl.obolibrary.org/obo/RO_0002150 GO:0032774 RNA biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. http://purl.obolibrary.org/obo/GO_0032774 RNA synthesis|RNA biosynthesis|RNA formation|RNA anabolism GO:0032770 positive regulation of monooxygenase activity biolink:OntologyClass mondo Any process that activates or increases the activity of a monooxygenase. http://purl.obolibrary.org/obo/GO_0032770 up regulation of monooxygenase activity|stimulation of monooxygenase activity|up-regulation of monooxygenase activity|activation of monooxygenase activity|upregulation of monooxygenase activity MONDO:0020492 hemimegalencephaly biolink:Disease mondo ICD9:742.4|GARD:0002637|Orphanet:99802|UMLS:C0431391|MESH:D065705|SCTID:253170008|ICD10:Q04.5 Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy. UMLS:C0431391|MESH:D065705|SNOMEDCT:253170008|ORPHA:99802 http://purl.obolibrary.org/obo/MONDO_0020492 macrencephaly|unilateral megalencephaly gard_rare|ordo_malformation_syndrome MONDO:0020491 subcortical band heterotopia biolink:Disease mondo Orphanet:99796|DOID:0111169|UMLS:C4284594|GARD:0002250|NCIT:C116933|UMLS:C1848201|ICD10:Q04.3|GARD:0001904 A developmental brain abnormality characterized by atypical migration of neurons during cortical development. UMLS:C1848201|ORPHA:99796|UMLS:C4284594|DOID:0111169|NCIT:C116933 http://purl.obolibrary.org/obo/MONDO_0020491 band heterotopia|familial band heterotopia|double cortex syndrome|heterotopic cortex|Double cortex|HeCo|subcortical laminar heterotopia gard_rare|ordo_morphological_anomaly MONDO:0020490 mosaic trisomy 9 biolink:Disease mondo SCTID:764989007|ICD10:Q92.1|MESH:C535454|UMLS:CN035918|Orphanet:99776|GARD:0000043 Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person. SNOMEDCT:764989007|UMLS:CN035918|UMLS:C2930908|ORPHA:99776|MESH:C535454 http://purl.obolibrary.org/obo/MONDO_0020490 Mosaic trisomy type 9|trisomy 9 mosaicism|Mosaic trisomy chromosome 9 gard_rare|ordo_malformation_syndrome GO:0032769 negative regulation of monooxygenase activity biolink:OntologyClass mondo Any process that stops or reduces the activity of a monooxygenase. http://purl.obolibrary.org/obo/GO_0032769 down regulation of monooxygenase activity|inhibition of monooxygenase activity|down-regulation of monooxygenase activity|downregulation of monooxygenase activity GO:0032768 regulation of monooxygenase activity biolink:OntologyClass mondo Any process that modulates the activity of a monooxygenase. http://purl.obolibrary.org/obo/GO_0032768 GO:0030103 vasopressin secretion biolink:OntologyClass mondo The regulated release of vasopressin from secretory granules into the blood. http://purl.obolibrary.org/obo/GO_0030103 MONDO:0020499 Nipah virus disease biolink:Disease mondo UMLS:CN207389|ICD10:A98.8|DOID:0050192|Orphanet:99825 Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness. UMLS:CN207389|ORPHA:99825|DOID:0050192 http://purl.obolibrary.org/obo/MONDO_0020499 Nipah virus infectious disease|Nipah fever|Nipah encephalitis ordo_disease GO:0042158 lipoprotein biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0042158 lipoprotein biosynthesis|lipoprotein anabolism|lipoprotein synthesis|lipoprotein formation MONDO:0020498 obsolete Lassa fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020498 MONDO:0020497 Turcot syndrome with polyposis biolink:Disease mondo UMLS:CN207386|ICD10:D12.6|Orphanet:99818 Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions. ORPHA:99818|UMLS:CN207386 http://purl.obolibrary.org/obo/MONDO_0020497 ordo_clinical_subtype GO:0042157 lipoprotein metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolism MONDO:0020496 familial porencephaly biolink:Disease mondo ICD10:Q04.6|GARD:0002258|Orphanet:99810 An instance of porencephaly that is caused by an inherited modification of the individual's genome. UMLS:C1867983|ORPHA:99810|MESH:C536850 http://purl.obolibrary.org/obo/MONDO_0020496 familial porencephalic white matter disease|hereditary porencephaly ordo_etiological_subtype|gard_rare OBO:chebi#is_conjugate_acid_of is conjugate acid of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of MONDO:0020495 peho-like syndrome biolink:Disease mondo OMIM:617507|Orphanet:99807 PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. http://identifiers.org/omim/617507|ORPHA:99807 http://purl.obolibrary.org/obo/MONDO_0020495 PEHOL|peho-like syndrome; PEHOL|Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome ordo_disease MONDO:0020494 oculootodental syndrome biolink:Disease mondo ICD10:K00.2|Orphanet:99806|UMLS:C2750325 Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. UMLS:C2750325|ORPHA:99806 http://purl.obolibrary.org/obo/MONDO_0020494 OOD ordo_malformation_syndrome MONDO:0020493 Haddad syndrome biolink:Disease mondo Orphanet:99803|ICD10:G47.3|SCTID:719972004 Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. UMLS:C1859587|SNOMEDCT:719972004|MESH:C536209|ORPHA:99803 http://purl.obolibrary.org/obo/MONDO_0020493 ondine-Hirschsprung syndrome|ondine-Hirschsprung disease|congenital central alveolar hypoventilation-Hirschsprung disease syndrome ordo_malformation_syndrome GO:0017148 negative regulation of translation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. http://purl.obolibrary.org/obo/GO_0017148 downregulation of protein biosynthetic process|negative regulation of protein anabolism|down regulation of protein biosynthetic process|negative regulation of protein synthesis|inhibition of protein biosynthetic process|protein biosynthetic process inhibitor activity|negative regulation of protein biosynthesis|down-regulation of protein biosynthetic process|protein biosynthesis inhibitor activity|negative regulation of protein biosynthetic process|negative regulation of protein formation GO:0017145 stem cell division biolink:OntologyClass mondo The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. http://purl.obolibrary.org/obo/GO_0017145 stem cell renewal GO:0017144 drug metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a drug, a substance used in the diagnosis, treatment or prevention of a disease; as used here antibiotic substances (see antibiotic metabolism) are considered to be drugs, even if not used in medical or veterinary practice. http://purl.obolibrary.org/obo/GO_0017144 drug metabolism GO:0030100 regulation of endocytosis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of endocytosis. http://purl.obolibrary.org/obo/GO_0030100 UBERON:0006919 tongue squamous epithelium biolink:AnatomicalEntity mondo A squamous epithelium that is part of a tongue. http://purl.obolibrary.org/obo/UBERON_0006919 squamous epithelium of tongue UBERON:0006916 non-keratinized epithelium of tongue biolink:AnatomicalEntity mondo A non-keratinized stratified squamous epithelium that is part of a tongue. http://purl.obolibrary.org/obo/UBERON_0006916 UBERON:0006915 stratified squamous epithelium biolink:AnatomicalEntity mondo Multilaminar epithelium which consists of more than one layer of squamous cells only one layer of which is in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, epithelium of wall of esophagus.[FMA] http://purl.obolibrary.org/obo/UBERON_0006915 epithelium stratificatum squamosum UBERON:0006914 squamous epithelium biolink:AnatomicalEntity mondo An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. http://purl.obolibrary.org/obo/UBERON_0006914 RO:0002134 innervates biolink:OntologyClass mondo Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. http://purl.obolibrary.org/obo/RO_0002134 GO:0042165 neurotransmitter binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. http://purl.obolibrary.org/obo/GO_0042165 RO:0002131 overlaps biolink:OntologyClass mondo A overlaps B if they share some part in common. http://purl.obolibrary.org/obo/RO_0002131 GO:0017119 Golgi transport complex biolink:OntologyClass mondo A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8. http://purl.obolibrary.org/obo/GO_0017119 Sec34/35 complex|conserved oligomeric Golgi complex|COG complex NCBITaxon:91061 Bacilli organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacillus/Lactobacillus/Streptococcus group|Firmibacteria UBERON:0006924 stomach glandular epithelium biolink:AnatomicalEntity mondo A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. http://purl.obolibrary.org/obo/UBERON_0006924 epithelium of gastric gland|gastric gland epithelium UBERON:0006923 vagina squamous epithelium biolink:AnatomicalEntity mondo A squamous epithelium that is part of a vagina. http://purl.obolibrary.org/obo/UBERON_0006923 vaginal squamous epithelium UBERON:0006922 cervix squamous epithelium biolink:AnatomicalEntity mondo The squamous epithelium of the cervical portio is similar to that of the vagina, except that it is generally smooth and lacks rete pegs. Colposcopically, it appears featureless except for a fine network of vessels which is sometimes visible. The relative opacity and pale pink coloration of the squamous epithelium derives from its multi-layered histology and the location of its supporting vessels below the basement membrane. http://purl.obolibrary.org/obo/UBERON_0006922 cervical squamous epithelium UBERON:0006921 stomach squamous epithelium biolink:AnatomicalEntity mondo A squamous epithelium that is part of a stomach. http://purl.obolibrary.org/obo/UBERON_0006921 UBERON:0006920 esophagus squamous epithelium biolink:AnatomicalEntity mondo A squamous epithelium that is part of a esophagus. http://purl.obolibrary.org/obo/UBERON_0006920 squamous oesophageal epithelium|squamous epithelium of esophagus|esophageal squamous epithelium UBERON:0006909 lumen of digestive tract biolink:AnatomicalEntity mondo An anatomical space that surrounded_by a digestive tract. http://purl.obolibrary.org/obo/UBERON_0006909 lumen of digestive tract|gut cavity|lumen of gut|lumen of alimentary tract|digestive tract lumen|gut lumen UBERON:0006905 mandibular process mesenchyme biolink:AnatomicalEntity mondo Mesenchyme that is part of a mandibular prominence. http://purl.obolibrary.org/obo/UBERON_0006905 mesenchyme of mandibular process|mesenchyme of mandibular prominence UBERON:0006904 head mesenchyme from mesoderm biolink:AnatomicalEntity mondo A head mesenchyme that develops_from a mesoderm. http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm|head mesenchyme derived from mesoderm|head mesoderm|mesenchyme derived from head mesoderm|cranial mesoderm|mesenchyme from head mesoderm|head mesenchyme from head mesoderm RO:0002120 synapsed to biolink:OntologyClass mondo Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to. http://purl.obolibrary.org/obo/RO_0002120 UBERON:0006913 lip epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a lip. http://purl.obolibrary.org/obo/UBERON_0006913 MONDO:0032485 intellectual developmental disorder 61 biolink:Disease mondo OMIM:618009 http://identifiers.org/omim/618009 http://purl.obolibrary.org/obo/MONDO_0032485 Mental Retardation, Autosomal Dominant 61|INTELLECTUAL DEVELOPMENTAL DISORDER 61; MRD61 GO:0042181 ketone biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/GO_0042181 ketone formation|ketone anabolism|ketone synthesis|ketone biosynthesis GO:0042180 cellular ketone metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/GO_0042180 ketone metabolism HGNC:20577 CYP26C1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20577 RO:0002103 synapsed by biolink:OntologyClass mondo Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. http://purl.obolibrary.org/obo/RO_0002103 RO:0002104 has plasma membrane part biolink:OntologyClass mondo Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. http://purl.obolibrary.org/obo/RO_0002104 GO:0019751 polyol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. http://purl.obolibrary.org/obo/GO_0019751 polyhydric alcohol metabolic process|polyol metabolism GO:0019752 carboxylic acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/GO_0019752 carboxylic acid metabolism FOODON:03411201 dairy cow biolink:OntologyClass mondo A dairy cow is an adult female member of a dairy cattle breed http://purl.obolibrary.org/obo/FOODON_03411201 GO:0005125 cytokine activity biolink:OntologyClass mondo The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells. http://purl.obolibrary.org/obo/GO_0005125 autocrine activity|paracrine activity HGNC:20580 CYP2R1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20580 HGNC:20581 CYP26B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20581 HGNC:20582 CYP2U1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20582 GO:0032729 positive regulation of interferon-gamma production biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/GO_0032729 positive regulation of interferon-gamma secretion|positive regulation of interferon-gamma biosynthetic process|positive regulation of type II interferon production|up-regulation of interferon-gamma production|up regulation of interferon-gamma production|activation of interferon-gamma production|stimulation of interferon-gamma production|upregulation of interferon-gamma production HGNC:32550 ZBTB42 biolink:OntologyClass mondo http://identifiers.org/hgnc/32550 CHEBI:59999 chemical substance biolink:ChemicalSubstance mondo A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. http://purl.obolibrary.org/obo/CHEBI_59999 Chemische Substanz FOODON:03460225 food component addition process biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03460225 MONDO:0019450 lissencephaly with cerebellar hypoplasia biolink:Disease mondo SCTID:715817007|Orphanet:86823|UMLS:C4274995|ICD10:Q04.3 -3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F. UMLS:C4274995|SNOMEDCT:715817007|ORPHA:86823 http://purl.obolibrary.org/obo/MONDO_0019450 LCH ordo_group_of_disorders MONDO:0007469 double nail for fifth toe biolink:Disease mondo OMIM:126500|GARD:0009672|MESH:C565090 http://identifiers.org/omim/126500|MESH:C565090 http://purl.obolibrary.org/obo/MONDO_0007469 double nail for fifth toe|Double nails on the fifth toe|fifth toe, double nails gard_rare FOODON:03411297 vertebrate animal biolink:OntologyClass mondo A vertebrate animal is any species of organism within the subphylum Vertebrata (chordates with backbones). Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,276 species described. http://purl.obolibrary.org/obo/FOODON_03411297 animal MONDO:0020445 agenesis of the superior vena cava biolink:Disease mondo ICD9:747.49|ICD10:Q26.8|Orphanet:99114|SCTID:204464007 Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome. ORPHA:99114|SNOMEDCT:204464007 http://purl.obolibrary.org/obo/MONDO_0020445 agenesis of the SVC|agenesis of the superior caval vein|absence of the superior vena cava|absence of the SVC|absence of the superior caval vein ordo_morphological_anomaly MONDO:0007467 DNA, low-repetitive sequences of biolink:Disease mondo OMIM:126390 http://identifiers.org/omim/126390 http://purl.obolibrary.org/obo/MONDO_0007467 repetitive sequence DNA|DNA, low-repetitive sequences of MONDO:0007468 obsolete DNA, satellite, alpha type biolink:Disease mondo OMIM:126410 http://identifiers.org/omim/126410 http://purl.obolibrary.org/obo/MONDO_0007468 DNA, satellite, alpha type MONDO:0020444 subaortic course of innominate vein biolink:Disease mondo ICD10:Q26.8|SCTID:766756002|Orphanet:99113 Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated. ORPHA:99113|SNOMEDCT:766756002 http://purl.obolibrary.org/obo/MONDO_0020444 subaortic course of brachiocephalic vein ordo_morphological_anomaly MONDO:0020443 absence of innominate vein biolink:Disease mondo ICD10:Q26.8|Orphanet:99112 Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. ORPHA:99112 http://purl.obolibrary.org/obo/MONDO_0020443 absence of brachiocephalic vein ordo_morphological_anomaly MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature biolink:Disease mondo Orphanet:1683|MESH:C565092|UMLS:C1852062|OMIM:126320 UMLS:C1852062|http://identifiers.org/omim/126320|MESH:C565092|ORPHA:1683 http://purl.obolibrary.org/obo/MONDO_0007465 distichiasis-congenital heart defects-peripheral vascular anomalies syndrome|distichiasis with congenital anomalies of the heart and peripheral vasculature MONDO:0020442 left superior vena cava persisting to left-sided atrium biolink:Disease mondo SCTID:445436005|ICD9:747.49|ICD10:Q26.1|Orphanet:99111 ORPHA:99111|SNOMEDCT:445436005 http://purl.obolibrary.org/obo/MONDO_0020442 left superior caval vein persisting to left-sided atrium|left SVC persisting to left-sided atrium ordo_morphological_anomaly MONDO:0007466 DNA, satellite, 3 biolink:Disease mondo OMIM:126370 http://identifiers.org/omim/126370 http://purl.obolibrary.org/obo/MONDO_0007466 HS3|DNA, satellite, type 3|DNA, satellite, III; HS3|D1Z1|DNA, satellite, III; HS3; D1Z1 FOODON:00003374 harvested food material biolink:OntologyClass mondo Organic food material that has been harvested. http://purl.obolibrary.org/obo/FOODON_00003374 MONDO:0020441 right superior vena cava connecting to left-sided atrium biolink:Disease mondo Orphanet:99110|ICD10:Q26.8 Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported. ORPHA:99110 http://purl.obolibrary.org/obo/MONDO_0020441 right SVC connecting to left-sided atrium|right superior caval vein connecting to left-sided atrium ordo_morphological_anomaly MONDO:0007463 distal osteosclerosis biolink:Disease mondo OMIM:126250|UMLS:C1852063|MESH:C565093 UMLS:C1852063|http://identifiers.org/omim/126250|MESH:C565093 http://purl.obolibrary.org/obo/MONDO_0007463 osteosclerosis, distal|distal osteosclerosis MONDO:0007464 obsolete isolated distichiasis biolink:Disease mondo ICD9:743.63|SCTID:95339000|OMIM:126300|Orphanet:99177|ICD10:Q10.3 Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated. ORPHA:99177|http://identifiers.org/omim/126300|SNOMEDCT:95339000 http://purl.obolibrary.org/obo/MONDO_0007464 eyelashes, two rows of|distichiasis ordo_morphological_anomaly MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium biolink:Disease mondo Orphanet:99109|ICD10:Q26.1 Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated. ORPHA:99109 http://purl.obolibrary.org/obo/MONDO_0020440 left superior caval vein persisting to the left-sided atrium|persistent left SVC connecting to the left-sided atrium|persistent left superior caval vein connecting to the left-sided atrium ordo_morphological_anomaly MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome biolink:Disease mondo Orphanet:2868|MESH:C565094|ICD10:Q87.1|OMIM:126190|UMLS:C1852073 Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. http://identifiers.org/omim/126190|ORPHA:2868|MESH:C565094|UMLS:C1852073 http://purl.obolibrary.org/obo/MONDO_0007461 disproportionate short stature with ptosis and valvular heart lesions ordo_malformation_syndrome MONDO:0007462 multiple sclerosis, susceptibility to biolink:Disease mondo OMIMPS:126200 http://purl.obolibrary.org/obo/MONDO_0007462 disseminated sclerosis|MS predisposition|prototype_pattern GO:0044706 multi-multicellular organism process biolink:OntologyClass mondo A multicellular organism process which involves another multicellular organism of the same or different species. http://purl.obolibrary.org/obo/GO_0044706 MONDO:0007460 discrimination, Two-point, reduction 1N biolink:Disease mondo OMIM:126180 http://identifiers.org/omim/126180 http://purl.obolibrary.org/obo/MONDO_0007460 discrimination, TWO-point, reduction IN|discrimination, Two-point, reduction type 1N|sensory discrimination MONDO:0020439 patent foramen ovale (disease) biolink:Disease mondo MESH:D054092|DOID:13620|UMLS:C0016522|ICD10:Q21.1|Orphanet:99108|MedDRA:10016982|HP:0001655|NCIT:C34619 A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes. UMLS:C0016522|ORPHA:99108|MESH:D054092|NCIT:C34619|DOID:13620|MEDDRA:10016982 http://purl.obolibrary.org/obo/MONDO_0020439 atrial septal defect within oval fossa|ostium secundum type atrial septal defect|foramen ovale patent|patent foramen ovale|defect, patent or persistent, ostium secundum|persistent ostium secundum ordo_morphological_anomaly MONDO:0020438 atrial septal aneurysm biolink:Disease mondo ICD10:Q21.1|UMLS:C0521533|SCTID:95440004|Orphanet:99107 UMLS:C0521533|SNOMEDCT:95440004|ORPHA:99107 http://purl.obolibrary.org/obo/MONDO_0020438 ordo_morphological_anomaly MONDO:0020437 atrial septal defect, ostium primum type biolink:Disease mondo GARD:0010695|MESH:C548006|Orphanet:99106|ICD10:Q21.2 ORPHA:99106|UMLS:C0741296|MESH:C548006 http://purl.obolibrary.org/obo/MONDO_0020437 ostium primum ASD|ASD ostium primum type|ASD, ostium primum type|atrial septal defect ostium primum ordo_clinical_subtype GO:0044703 multi-organism reproductive process biolink:OntologyClass mondo A biological process that directly contributes to the process of producing new individuals, involving another organism. http://purl.obolibrary.org/obo/GO_0044703 MONDO:0019459 obsolete myeloid sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019459 MONDO:0020436 atrial septal defect, sinus venosus type biolink:Disease mondo GARD:0010696|MESH:C548009|SCTID:95268002|ICD10:Q21.1|Orphanet:99105 SNOMEDCT:95268002|ORPHA:99105|UMLS:C0344730|MESH:C548009 http://purl.obolibrary.org/obo/MONDO_0020436 ASD, sinus venosus type|atrial septal defect sinus venosus|sinus venosus ASD|sinus venosus atrial septal defects ordo_clinical_subtype MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome biolink:Disease mondo GARD:0005029|Orphanet:3200 ORPHA:3200 http://purl.obolibrary.org/obo/MONDO_0044406 Stoll-Alembik-Finck syndrome ordo_malformation_syndrome MONDO:0020435 atrial septal defect, coronary sinus type biolink:Disease mondo SCTID:40272001|GARD:0010697|ICD10:Q21.1|Orphanet:99104|ICD9:746.89 SNOMEDCT:40272001|ORPHA:99104 http://purl.obolibrary.org/obo/MONDO_0020435 atrial septal defect coronary sinus|unroofed coronary sinus|ASD coronary sinus|coronary sinus atrial septal defects|ASD, coronary sinus type gard_rare|ordo_clinical_subtype MONDO:0019456 acute myeloid leukemia with multilineage dysplasia biolink:Disease mondo UMLS:C1292773|SCTID:445448008|ICD10:C92.8|ICDO:9895/3|GARD:0012761|Orphanet:86845|NCIT:C9289 An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia. UMLS:C1292773|NCIT:C9289|ORPHA:86845|SNOMEDCT:445448008 http://purl.obolibrary.org/obo/MONDO_0019456 AML with multilineage dysplasia|De novo acute myeloid leukemia with multilineage dysplasia|AML with myelodysplasia-related features|acute myeloid leukaemia with myelodysplasia-related features ordo_disease MONDO:0019455 acute panmyelosis with myelofibrosis biolink:Disease mondo MedDRA:10000879|SCTID:109991003|UMLS:C0334674|NCIT:C4344|ONCOTREE:APMF|ICD10:C94.4|ICD9:289.89|ICDO:9931/3|Orphanet:86843|GARD:0011907 An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis. NCIT:C4344|UMLS:C0334674|MEDDRA:10000879|SNOMEDCT:109991003|ORPHA:86843 http://purl.obolibrary.org/obo/MONDO_0019455 acute myelodysplasia with myelofibrosis|acute myelosclerosis|APMF|acute (malignant) myelosclerosis|acute myelofibrosis|acute (malignant) myelofibrosis|acute panmyelosis ordo_disease|gard_rare MONDO:0019458 acute basophilic leukemia biolink:Disease mondo UMLS:C0221292|NCIT:C3164|Orphanet:86849|UMLS:C0023437|ONCOTREE:ABL|EFO:0003029|SCTID:307592006|ICD10:C94.7|MESH:D015471|ICDO:9870/3 A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. UMLS:C0221292|UMLS:C0023437|SNOMEDCT:307592006|NCIT:C3164|MESH:D015471|ORPHA:86849 http://purl.obolibrary.org/obo/MONDO_0019458 basophilic leukemia|leukemia basophilic ordo_disease MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome biolink:Disease mondo SCTID:721306009|NCIT:C25765|Orphanet:86846|GARD:0012762|ICD10:C92.0 An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001) UMLS:C1292776|NCIT:C25765|SNOMEDCT:721306009|ORPHA:86846 http://purl.obolibrary.org/obo/MONDO_0019457 Secondary Acute myeloid Leukemia (AML)|secondary acute myeloid leukemia|Secondary Acute myeloblastic Leukemia|Secondary Acute granulocytic Leukemia|Secondary Acute myelogenous Leukemia|Secondary Acute myelocytic Leukemia|Secondary AGL|therapy-related AML and myelodysplastic syndrome|secondary AML gard_rare|ordo_group_of_disorders MONDO:0019452 myeloproliferative neoplasm, unclassifiable biolink:Disease mondo NCIT:C27350|ICDO:9975/3|ICD10:D47.1|UMLS:C1333046|Orphanet:86830 This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms. UMLS:C1333046|ORPHA:86830|NCIT:C27350 http://purl.obolibrary.org/obo/MONDO_0019452 MPN, U|CMPD, U|MPN-U|myeloproliferative neoplasm, unclassifiable|chronic myeloproliferative disease, unclassifiable|chronic myeloproliferative disorder, unclassifiable|unclassifiable chronic myeloproliferative disease|unclassifiable chronic myeloproliferative disorder|undifferentiated myeloproliferative disease|CMPD-U ordo_disease MONDO:0019451 chronic neutrophilic leukemia biolink:Disease mondo Orphanet:86829|MESH:D015467|UMLS:C0023481|NCIT:C3179|EFO:1000179|SCTID:188734009|GARD:0010585|ICDO:9963/3|ICD10:D47.1|DOID:0080187|ONCOTREE:CNL|UMLS:C0474856 A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene. NCIT:C3179|MESH:D015467|DOID:0080187|ORPHA:86829|SNOMEDCT:188734009|UMLS:C0023481|UMLS:C0474856 http://purl.obolibrary.org/obo/MONDO_0019451 chronic neutrophilic leukemia|neutrophilic leukemia|CNL gard_rare|ordo_disease MONDO:0019454 myelodysplastic syndrome with excess blasts biolink:Disease mondo MESH:D000754|ICDO:9983/3|UMLS:C0002894|MedDRA:10038270|Orphanet:86839|COHD:136949|EFO:0003811|ICD10:D46.2|NCIT:C7506|SCTID:398623004 A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2. MEDDRA:10038270|UMLS:C0002894|SNOMEDCT:398623004|ORPHA:86839|MESH:D000754|NCIT:C7506 http://purl.obolibrary.org/obo/MONDO_0019454 refractory Anemia with Excess blasts|MDS-EB|RAEB|myelodysplastic syndrome with Excess blasts|refractory Anemia with an Excess of blasts ordo_disease MONDO:0019453 refractory cytopenia with multilineage dysplasia biolink:Disease mondo ICD9:238.72|ICDO:9985/3|Orphanet:86836|ICD10:D46.A|SCTID:415285009|UMLS:C0796466|MedDRA:10067959|NCIT:C8574|ICD10:D46.7 Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages. MEDDRA:10067959|UMLS:C0796466|ORPHA:86836|NCIT:C8574|SNOMEDCT:415285009 http://purl.obolibrary.org/obo/MONDO_0019453 RCMD|MDS-MLD|refractory cytopenia with multilineage dysplasia|myelodysplastic syndrome with multilineage dysplasia ordo_group_of_disorders HGNC:32528 PRCD biolink:OntologyClass mondo http://identifiers.org/hgnc/32528 MONDO:0020434 atrial septal defect, ostium secundum type biolink:Disease mondo MedDRA:10031302|ICD10:Q21.1|GARD:0005865|COHD:434467|Orphanet:99103|MedDRA:10031303 ORPHA:99103|UMLS:C0344724|MEDDRA:10031303|MEDDRA:10031302 http://purl.obolibrary.org/obo/MONDO_0020434 osASD|ASD ostium secundum type|ASD, ostium secundum type|ostium secundum atrial septal defect|ostium secundum ASD ordo_clinical_subtype MONDO:0007478 autosomal dominant Kenny-Caffey syndrome biolink:Disease mondo Orphanet:93325|OMIM:127000|NCIT:C130993|GARD:0000083|UMLS:CN031291|ICD10:Q87.1 An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. NCIT:C130993|http://identifiers.org/omim/127000|ORPHA:93325|UMLS:CN031291 http://purl.obolibrary.org/obo/MONDO_0007478 dwarfism, cortical thickening of tubular bones and transient hypocalcemia|Kenny-Caffey syndrome, type 2; KCS2|Kenny syndrome|Kenny-Caffey syndrome, type 2|Kenny-Caffey syndrome, autosomal dominant|Kenny-Caffey syndrome type 2|KCS2|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia ordo_etiological_subtype|gard_rare MONDO:0007479 dwarfism, Levi type biolink:Disease mondo UMLS:C1851994|MESH:C565081|GARD:0006294|OMIM:127100 http://identifiers.org/omim/127100|UMLS:C1851994|MESH:C565081 http://purl.obolibrary.org/obo/MONDO_0007479 dwarfism, Levi type|dwarfism Levi's type|dwarfism Levi type|snub-nosed type of dwarfism gard_rare MONDO:0020433 ectasia of the left appendage biolink:Disease mondo Orphanet:99102|ICD10:Q20.8 Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure. ORPHA:99102 http://purl.obolibrary.org/obo/MONDO_0020433 dilatation of the left atrial appendage|ectasia of the left auricle|dilatation of the left appendage|dilatation of the left auricle|ectasia of the left atrial appendage ordo_morphological_anomaly GO:0044710 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0044710 MONDO:0007476 familial Dupuytren contracture biolink:Disease mondo OMIM:126900|Orphanet:79142|ICD10:M72.0|SCTID:274142002|GARD:0012165 Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared). http://identifiers.org/omim/126900|ORPHA:79142|SNOMEDCT:274142002 http://purl.obolibrary.org/obo/MONDO_0007476 plantar fibromatosis, familial|plantar fibromas|Dupuytren contracture 1|Dupuytren contracture ordo_disease MONDO:0020432 ectasia of the right atrial appendage biolink:Disease mondo ICD10:Q20.8|Orphanet:99101 Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. ORPHA:99101 http://purl.obolibrary.org/obo/MONDO_0020432 ectasia of the right atrial auricle|dilatation of the right atrial appendage|dilatation of the right atrial auricle ordo_morphological_anomaly MONDO:0020431 juxtaposition of the atrial appendages biolink:Disease mondo ICD10:Q20.8|Orphanet:99100 Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases. ORPHA:99100 http://purl.obolibrary.org/obo/MONDO_0020431 juxtaposition of the atrial auricles ordo_morphological_anomaly MONDO:0007477 3-M syndrome biolink:Disease mondo DOID:0060241|Orphanet:2616|OMIMPS:273750|GARD:0005667|MESH:C535314|ICD9:756.59|SCTID:702342007|ICD10:Q87.1 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. UMLS:C1848862|UMLS:C1851996|ORPHA:2616|SNOMEDCT:702342007|MESH:C535314|DOID:0060241 http://purl.obolibrary.org/obo/MONDO_0007477 three M syndrome 1|dolichospondylic dysplasia|dwarfism with tall vertebrae|Miller-McKusick-Malvaux syndrome|Le Merrer syndrome|3-MSBN|gloomy face syndrome|gloomy face syndrome Yakut short stature syndrome, included|3-M syndrome|three-M slender-boned nanism|Yakut short stature syndrome|3M syndrome|three M syndrome|Dolichospondylic dysplasia|3M1 ordo_malformation_syndrome|prototype_pattern MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction biolink:Disease mondo GARD:0009743|OMIM:126840|MESH:C535721|UMLS:C1852009 http://identifiers.org/omim/126840|MESH:C535721|UMLS:C1852009 http://purl.obolibrary.org/obo/MONDO_0007474 duodenal ulcer due to antral G-cell hyperfunction|hypergastrinemic, hyperpepsinogenemic duodenal ulcer gard_rare MONDO:0020430 cor triatriatum sinister biolink:Disease mondo SCTID:253353007|ICD10:Q24.2|ICD9:746.89|GARD:0012484|Orphanet:99099 Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy. SNOMEDCT:253353007|ORPHA:99099 http://purl.obolibrary.org/obo/MONDO_0020430 cor triatriatum sinistrum|divided left atrium gard_rare|ordo_morphological_anomaly MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 biolink:Disease mondo MESH:C565086|OMIM:126850|UMLS:C1852008 http://identifiers.org/omim/126850|MESH:C565086|UMLS:C1852008 http://purl.obolibrary.org/obo/MONDO_0007475 duodenal Ulcer, hyperpepsinogenemic type 1|duodenal ulcer, hyperpepsinogenemic I MONDO:0007472 basal laminar drusen biolink:Disease mondo DOID:0060746|MESH:C563034|OMIM:126700|UMLS:C0730295|ICD10:H35.5 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3. UMLS:C0730295|http://identifiers.org/omim/126700|MESH:C563034|DOID:0060746 http://purl.obolibrary.org/obo/MONDO_0007472 cuticular drusen|drusen, early adult-onset, grouped|drusen of Bruch membrane|basal laminar drusen|drusen, cuticular|early adult-onset grouped drusen MONDO:0007473 Duane retraction syndrome biolink:Disease mondo SCTID:60318001|GARD:0006288|Orphanet:233|MedDRA:10013799|OMIMPS:126800|ICD10:H50.81|ICD9:378.71|COHD:376989|ICD10:H50.8|NCIT:C84678|UMLS:C0013261|DOID:12557|MESH:D004370 Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia. MESH:D004370|NCIT:C84678|MEDDRA:10013799|UMLS:C0013261|ORPHA:233|SNOMEDCT:60318001|DOID:12557 http://purl.obolibrary.org/obo/MONDO_0007473 Duane's syndrome|Duane retraction syndrome|Duane anomaly|Stilling-Turk-Duane syndrome|DRS|Duane syndrome|retraction syndrome|DURS gard_rare|ordo_malformation_syndrome|prototype_pattern MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome biolink:Disease mondo UMLS:C1852022|SCTID:720598005|ICD10:M85.8|OMIM:126550|Orphanet:85192|MESH:C565089 This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. http://identifiers.org/omim/126550|SNOMEDCT:720598005|ORPHA:85192|MESH:C565089|UMLS:C1852022 http://purl.obolibrary.org/obo/MONDO_0007470 familial doughnut lesions of skull|doughnut lesions of skull, familial ordo_malformation_syndrome MONDO:0007471 Doyne honeycomb retinal dystrophy biolink:Disease mondo GARD:0001912|DOID:0060745|ICD10:H35.5|UMLS:C1832174|Orphanet:75376|OMIM:126600|UMLS:C1852020|SCTID:193411004|UMLS:CN205694 Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner. SNOMEDCT:193411004|ORPHA:75376|UMLS:C1832174|http://identifiers.org/omim/126600|UMLS:C1852020|DOID:0060745|UMLS:CN205694 http://purl.obolibrary.org/obo/MONDO_0007471 Doyne honeycomb degeneration of retina|Malattia leventinese|dominant radial drusen|dominant drusen|Doyne honeycomb retinal dystrophy; DHRD|drusen, radial, autosomal dominant|DHRD|familial drusen|DHD|Doyne honeycomb retinal dystrophy ordo_disease|gard_rare MONDO:0020429 cor triatriatum dexter (disease) biolink:Disease mondo ICD9:746.89|SCTID:274947007|Orphanet:99098|ICD10:Q24.2|GARD:0012483|HP:0011566 ORPHA:99098|SNOMEDCT:274947007 http://purl.obolibrary.org/obo/MONDO_0020429 cor triatriatum dextrum|divided right atrium|cor triatriatum dexter ordo_morphological_anomaly MONDO:0020428 congenital Gerbode defect biolink:Disease mondo Orphanet:99095|SCTID:204312002|ICD10:Q21.0 ORPHA:99095|SNOMEDCT:204312002 http://purl.obolibrary.org/obo/MONDO_0020428 Gerbode defect|left ventricular-to-right atrial communication ordo_morphological_anomaly MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome biolink:Disease mondo SCTID:718719001|ICD10:Q04.3|UMLS:CN227635|Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. SNOMEDCT:718719001|UMLS:CN227635|ORPHA:86821 http://purl.obolibrary.org/obo/MONDO_0019449 ordo_malformation_syndrome MONDO:0020427 Laubry-Pezzi syndrome biolink:Disease mondo ICD10:Q21.0|UMLS:CN207292|Orphanet:99094|SCTID:764955006 Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance. ORPHA:99094|UMLS:CN207292|SNOMEDCT:764955006 http://purl.obolibrary.org/obo/MONDO_0020427 ventricular septal defect with aortic insufficiency|VSD with aortic insufficiency ordo_morphological_anomaly MONDO:0019448 benign adult familial myoclonic epilepsy biolink:Disease mondo UMLS:CN206220|SCTID:717225001|ICD10:G40.3|Orphanet:86814|UMLS:C4273988 Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. UMLS:CN206220|SNOMEDCT:717225001|UMLS:C4273988|ORPHA:86814 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonus epilepsy|ADCME|familial adult myoclonic epilepsy|autosomal dominant cortical myoclonus and epilepsy|FAME|FCMTE|BAFME|familial cortical myoclonic tremor and epilepsy ordo_disease MONDO:0020426 malposition of the coronary ostium biolink:Disease mondo ICD10:Q24.5|Orphanet:99090 Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery. ORPHA:99090 http://purl.obolibrary.org/obo/MONDO_0020426 ordo_morphological_anomaly MONDO:0020425 abnormal number of coronary ostia biolink:Disease mondo Orphanet:99089|ICD10:Q24.5 ORPHA:99089 http://purl.obolibrary.org/obo/MONDO_0020425 ordo_morphological_anomaly MONDO:0020424 intramural coronary arterial course biolink:Disease mondo Orphanet:99088|ICD10:Q24.5 Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death. UMLS:C0345123|ORPHA:99088 http://purl.obolibrary.org/obo/MONDO_0020424 ordo_morphological_anomaly MONDO:0019445 trichofolliculoma biolink:Disease mondo Orphanet:864|ICDO:8101/0|MedDRA:10044611|GARD:0005263|UMLS:C0334262|NCIT:C4112|MESH:C536553|SCTID:274899008 Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair. NCIT:C4112|MEDDRA:10044611|UMLS:C0334262|SNOMEDCT:274899008|MESH:C536553|ORPHA:864 http://purl.obolibrary.org/obo/MONDO_0019445 gard_rare|ordo_disease MONDO:0019444 Trichinellosis biolink:Disease mondo Orphanet:863|ICD10:B75|SCTID:709018004|GARD:0005250|MESH:D014235|MedDRA:10044608 A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur. UMLS:C0040896|MEDDRA:10044608|SNOMEDCT:709018004|MESH:D014235|ORPHA:863 http://purl.obolibrary.org/obo/MONDO_0019444 infection with Trichinella|Human trichinellosis|trichiniasis|trichinosis ordo_disease MONDO:0019447 atypical lichen myxedematosus biolink:Disease mondo Orphanet:86797|ICD10:L98.5|UMLS:C4510874|SCTID:725148000 Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported. SNOMEDCT:725148000|UMLS:C4510874|ORPHA:86797 http://purl.obolibrary.org/obo/MONDO_0019447 Intermediate lichen myxedematosus ordo_disease MONDO:0019446 localized lichen myxedematosus biolink:Disease mondo Orphanet:86795|GARD:0007321|ICD10:L98.5 Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis. ORPHA:86795 http://purl.obolibrary.org/obo/MONDO_0019446 papular mucinosis ordo_group_of_disorders MONDO:0019441 ATTRV122I amyloidosis biolink:Disease mondo Orphanet:85451|ICD10:E85.4+|ICD10:I43.1*|SCTID:715655000 Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. SNOMEDCT:715655000|ORPHA:85451 http://purl.obolibrary.org/obo/MONDO_0019441 ATTR cardiomyopathy|ATTRV122I-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|TTR-related cardiac amyloidosis|transthyretin amyloid cardiopathy|TTR-related amyloid cardiomyopathy ordo_disease MONDO:0019440 wild type ABeta2M amyloidosis biolink:Disease mondo UMLS:CN206197|SCTID:32599008|Orphanet:85446|GARD:0010563|ICD10:E85.3 SNOMEDCT:32599008|ORPHA:85446|UMLS:CN206197 http://purl.obolibrary.org/obo/MONDO_0019440 wild type ABeta2-microglobulinic amyloidosis|amyloidosis beta2m|dialysis-related amyloidosis|amyloidosis dialysis-related|Beta-2-microglobulin amyloidosis|dialysis-related arthropathy|ABeta2Mwt amyloidosis|DRA gard_rare|ordo_disease MONDO:0019443 dextro-looped transposition of the great arteries biolink:Disease mondo DOID:0060770|OMIMPS:608808|Orphanet:860|ICD10:Q20.3 Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance. DOID:0060770|ORPHA:860 http://purl.obolibrary.org/obo/MONDO_0019443 DTGA|isolated ventriculoarterial discordance|D-TGA|congenitally uncorrected transposition of the great arteries|ventriculoarterial discordance with atrioventricular concordance|congenitally uncorrected transposition of the great vessels ordo_morphological_anomaly MONDO:0019442 obsolete congenital toxoplasmosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019442 MONDO:0007449 dermo-odonto dysplasia biolink:Disease mondo UMLS:C1852144|SCTID:721091003|MESH:C565103|UMLS:C4303591|Orphanet:1660|ICD10:Q82.4|OMIM:125640|GARD:0001816 Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely. http://identifiers.org/omim/125640|SNOMEDCT:721091003|ORPHA:1660|MESH:C565103|UMLS:C4303591|UMLS:C1852144 http://purl.obolibrary.org/obo/MONDO_0007449 dermoodonto dysplasia|dermo-odonto-dysplasia|ectodermal dysplasia, hair-nail-Tooth type|DERMOODONTODYSPLASIA|dermo-odonto dysplasia|dermo odontodysplasia ordo_malformation_syndrome MONDO:0007447 autosomal dominant vibratory urticaria biolink:Disease mondo Orphanet:493342|MESH:C536347|UMLS:C0473546|ICD9:995.1|SCTID:238694002|UMLS:C1852146|OMIM:193050|OMIM:125630 An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. MESH:C536347|http://identifiers.org/omim/193050|ORPHA:493342|UMLS:C1852146|UMLS:C0473546|SNOMEDCT:238694002|http://identifiers.org/omim/125630 http://purl.obolibrary.org/obo/MONDO_0007447 vibratory urticaria; VBU|DDU|dermodistortive urticaria; DDU|vibratory angioedema|dermodistortive urticaria|angioedema, vibratory|vibratory urticaria, autosomal dominant ordo_disease MONDO:0007448 familial dermatographia biolink:Disease mondo OMIM:125635|COHD:132983|MESH:C536612|GARD:0009480|ICD9:708.3|SCTID:7632005|ICD10:L50.3|DOID:743|EFO:1000685 Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own. DOID:743|MESH:C536612|SNOMEDCT:7632005|NCIT:C111885|http://identifiers.org/omim/125635 http://purl.obolibrary.org/obo/MONDO_0007448 dermographism|DDU|familial dermographism|dermatographia|familial dermatographism|dermatographic urticaria|dermographism, familial|dermo-distortive urticaria|Dermatographism, familial|VBU|Dermodistortive urticaria|vibratory angioedema|vibratory urticaria gard_rare MONDO:0007445 dermatopathia pigmentosa reticularis biolink:Disease mondo MESH:C535374|SCTID:239088003|Orphanet:86920|GARD:0008550|OMIM:125595|ICD10:Q82.4 ORPHA:86920|MESH:C535374|SNOMEDCT:239088003|http://identifiers.org/omim/125595|UMLS:C0406778 http://purl.obolibrary.org/obo/MONDO_0007445 DPR|dermatopathia pigmentosa reticularis|dermatopathia pigmentosa reticularis; DPR gard_rare|ordo_disease MONDO:0020423 stenosis or atrophy of the coronary ostium biolink:Disease mondo Orphanet:99087|ICD10:Q24.5 ORPHA:99087 http://purl.obolibrary.org/obo/MONDO_0020423 stenosis or atresia of the coronary ostium|coronary ostial stenosis or atresia ordo_morphological_anomaly MONDO:0007446 dermatosis papulosa nigra biolink:Disease mondo ICD10:L82|SCTID:254669003|Wikipedia:Dermatosis_papulosa_nigra|UMLS:C0011645|ICD9:709.8|NCIT:C2984|OMIM:125600|MESH:C562379|DOID:4400|EFO:1000686 A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body. DOID:4400|UMLS:C0011645|MESH:C562379|SNOMEDCT:254669003|NCIT:C2984|http://identifiers.org/omim/125600 http://purl.obolibrary.org/obo/MONDO_0007446 dermatosis papulosa nigra|dermatosis papulosa nigra (morphologic abnormality) MONDO:0020422 aortopulmonary coronary arterial course biolink:Disease mondo Orphanet:99086|ICD10:Q24.5 Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise. ORPHA:99086 http://purl.obolibrary.org/obo/MONDO_0020422 ordo_morphological_anomaly MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris biolink:Disease mondo SCTID:51409009|ICD9:759.89|OMIM:125520|ICD10:Q87.0|Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood). MESH:C535349|UMLS:C0431406|ORPHA:1166|SNOMEDCT:51409009|http://identifiers.org/omim/125520 http://purl.obolibrary.org/obo/MONDO_0007443 depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|Cayler cardiofacial syndrome|isolated asymmetric crying facies|asymmetric crying facies ordo_morphological_anomaly MONDO:0020421 coronary artery intramyocardial course biolink:Disease mondo ICD10:Q24.5|Orphanet:99085 ORPHA:99085 http://purl.obolibrary.org/obo/MONDO_0020421 ordo_morphological_anomaly MONDO:0007444 dermal Ridges, patternless biolink:Disease mondo OMIM:125540|UMLS:C1852160|MESH:C565109 UMLS:C1852160|http://identifiers.org/omim/125540|MESH:C565109 http://purl.obolibrary.org/obo/MONDO_0007444 dermal Ridges, patternless MONDO:0020420 pulmonary branch stenosis biolink:Disease mondo Orphanet:99084|NCIT:C99144|UMLS:C2062889|ICD10:Q25.6 Narrowing of the lumen of the right or left pulmonary artery branch. ORPHA:99084|UMLS:C2062889|NCIT:C99144 http://purl.obolibrary.org/obo/MONDO_0020420 branch pulmonary artery stenosis|pulmonary artery stenosis, branch (not PPS)|peripheral pulmonary stenosis ordo_morphological_anomaly MONDO:0007441 dentinogenesis imperfecta type 2 biolink:Disease mondo ICD10:K00.5|Orphanet:166260|GARD:0012796|OMIM:125490 Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth. ORPHA:166260|http://identifiers.org/omim/125490 http://purl.obolibrary.org/obo/MONDO_0007441 DI-2|dentinogenesis imperfecta 1|Capdepont teeth|DGI1|opalescent teeth without osteogenesis imperfecta|opalescent dentin|DGI-II|dentinogenesis imperfecta, Shields type 2|dentinogenesis imperfecta without osteogenesis imperfecta|dentinogenesis imperfecta 1; DGI1|dentinogenesis imperfecta type 1|DGI-2 ordo_clinical_subtype MONDO:0007442 dentinogenesis imperfecta type 3 biolink:Disease mondo GARD:0010144|MESH:C538216|ICD9:520.5|OMIM:125500|SCTID:234970006|ICD10:K00.5|Orphanet:166265 Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). SNOMEDCT:234970006|ORPHA:166265|MESH:C538216|http://identifiers.org/omim/125500 http://purl.obolibrary.org/obo/MONDO_0007442 dentinogenesis imperfecta type III|dentinogenesis imperfecta Shields type 3|dentinogenesis imperfecta, Shields type 3|DGI-III|brandywine type dentinogenesis imperfecta|dentinogenesis imperfecta, Shields type III ordo_clinical_subtype|gard_rare MONDO:0007440 major affective disorder 1 biolink:Disease mondo DOID:0080220|OMIM:125480 http://identifiers.org/omim/125480|DOID:0080220 http://purl.obolibrary.org/obo/MONDO_0007440 MAFD1|manic-depressive psychosis|bipolar affective disorder|MAJOR affective disorder 1; MAFD1|major affective disorder 1|manic-depressive psychosis, autosomal MONDO:0020419 pulmonary artery hypoplasia (disease) biolink:Disease mondo ICD10:Q25.7|SCTID:54682008|HP:0004971|Orphanet:99083 SNOMEDCT:54682008|ORPHA:99083 http://purl.obolibrary.org/obo/MONDO_0020419 pulmonary artery hypoplasia ordo_morphological_anomaly GO:0030193 regulation of blood coagulation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of blood coagulation. http://purl.obolibrary.org/obo/GO_0030193 MONDO:0020418 dysphagia lusoria biolink:Disease mondo ICD10:Q25.4|SCTID:231719009|ICD9:787.29|Orphanet:99082|UMLS:C0267073 SNOMEDCT:231719009|UMLS:C0267073|ORPHA:99082 http://purl.obolibrary.org/obo/MONDO_0020418 ordo_morphological_anomaly MONDO:0020417 right aortic arch (disease) biolink:Disease mondo MedDRA:10067407|SCTID:111321007|HP:0012020|Orphanet:99081|ICD10:Q25.4|NCIT:C103917 An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. UMLS:C0035615|MEDDRA:10067407|ORPHA:99081|SNOMEDCT:111321007|NCIT:C103917 http://purl.obolibrary.org/obo/MONDO_0020417 right aortic arch ordo_morphological_anomaly MONDO:0019438 AL amyloidosis biolink:Disease mondo MedDRA:10036673|Orphanet:85443|UMLS:C0268381|GARD:0005797|MESH:C531616|ICD10:E85.9 AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. ORPHA:85443|UMLS:C0268381|MESH:C531616|MEDDRA:10036673 http://purl.obolibrary.org/obo/MONDO_0019438 primary AL amyloidosis|amyloidosis AL|Light chain amyloidosis|systemic AL amyloidsis|primary systemic amyloidosis|primary amyloidosis|amyloidosis primary systemic|primary systemic AL amyloidosis|primary amyloidosis (formerly)|Light-chain amyloidosis ordo_disease|gard_rare MONDO:0020416 Neuhauser anomaly biolink:Disease mondo SCTID:766751007|Orphanet:99078|ICD10:Q25.4 Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections). ORPHA:99078|SNOMEDCT:766751007 http://purl.obolibrary.org/obo/MONDO_0020416 ordo_morphological_anomaly MONDO:0019437 enthesitis-related juvenile idiopathic arthritis biolink:Disease mondo ICD10:M08.8|SCTID:410801005|NCIT:C119024|GARD:0010969|Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy. ORPHA:85438|SNOMEDCT:410801005|NCIT:C119024 http://purl.obolibrary.org/obo/MONDO_0019437 juvenile enthesitis-related arthritis|enthesitis-related arthritis|enthesitis related arthritis, juvenile|era|enthesitis-related JIA|juvenile spondylarthropathy ordo_malformation_syndrome|gard_rare MONDO:0020415 Kommerell diverticulum biolink:Disease mondo SCTID:74561007|Orphanet:99077|ICD10:Q25.4 Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture. ORPHA:99077|SNOMEDCT:74561007|UMLS:C0265885 http://purl.obolibrary.org/obo/MONDO_0020415 ordo_morphological_anomaly MONDO:0020414 persistent fifth aortic arch biolink:Disease mondo Orphanet:99076|ICD10:Q25.4 UMLS:C0345066|ORPHA:99076 http://purl.obolibrary.org/obo/MONDO_0020414 ordo_morphological_anomaly MONDO:0019439 AA amyloidosis biolink:Disease mondo UMLS:C0221014|NCIT:C3818|Orphanet:85445|SCTID:281034005|GARD:0010560|ICD9:277.39|UMLS:C3536715|ICD10:E85.3|MedDRA:10039811 Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. ORPHA:85445|UMLS:C0221014|UMLS:C3536715|SNOMEDCT:281034005|MEDDRA:10039811|NCIT:C3818 http://purl.obolibrary.org/obo/MONDO_0019439 amyloid A amyloidosis|reactive amyloidosis|secondary amyloidosis|inflammatory amyloidosis|amyloidosis AA gard_rare|ordo_disease MONDO:0020413 encircling double aortic arch biolink:Disease mondo ICD10:Q25.4|Orphanet:99075|SCTID:764521002 Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations. ORPHA:99075|SNOMEDCT:764521002 http://purl.obolibrary.org/obo/MONDO_0020413 ordo_morphological_anomaly MONDO:0019434 systemic-onset juvenile idiopathic arthritis biolink:Disease mondo NCIT:C119031|EFO:1001999|ICD10:M08.2|GARD:0010966|SCTID:201796004|Orphanet:85414 Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio. NCIT:C119031|SNOMEDCT:201796004|ORPHA:85414 http://purl.obolibrary.org/obo/MONDO_0019434 systemic juvenile idiopathic arthritis|systemic-onset JIA|SoJIA|systemic polyarthritis|Still's disease (formerly)|sJIA|systemic onset juvenile rheumatoid arthritis|systemic onset juvenile idiopathic arthritis|Still disease gard_rare|ordo_disease MONDO:0019433 oligoarticular juvenile idiopathic arthritis biolink:Disease mondo Orphanet:85410|ICD10:M08.4|MESH:C536312|NCIT:C119032|UMLS:C3898105|EFO:1002019|UMLS:C2931171|GARD:0004261 Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases. UMLS:C2931171|NCIT:C119032|MESH:C536312|UMLS:C3898105|ORPHA:85410 http://purl.obolibrary.org/obo/MONDO_0019433 Oligoarticular JIA|Pauciarticular chronic arthritis|Pauciarticular juvenile idiopathic arthritis|Pauciarticular JIA ordo_disease MONDO:0019436 psoriasis-related juvenile idiopathic arthritis biolink:Disease mondo GARD:0010970|NCIT:C114361|ICD10:M09.0*|Orphanet:85436|SCTID:239802003|ICD10:L40.5+ Childhood arthritis typically associated with psoriasis. SNOMEDCT:239802003|NCIT:C114361|UMLS:C0409672|ORPHA:85436 http://purl.obolibrary.org/obo/MONDO_0019436 juvenile psoriatic arthritis|psoriasis-related JIA|JPsA ordo_disease GO:0030198 extracellular matrix organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. http://purl.obolibrary.org/obo/GO_0030198 extracellular matrix organization and biogenesis|extracellular matrix organisation MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis biolink:Disease mondo UMLS:C3890733|ICD10:M08.0|NCIT:C119034|Orphanet:85435 A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. UMLS:C3890733|NCIT:C119034|ORPHA:85435 http://purl.obolibrary.org/obo/MONDO_0019435 rheumatoid factor-positive polyarticular JIA|polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive|polyarthritis with rheumatoid factor|polyarticular JIA, RF+|juvenile idiopathic rheumatoid factor-positive polyarthritis|polyarticular juvenile idiopathic arthritis, RF+ ordo_disease MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome biolink:Disease mondo Orphanet:85338|ICD10:G31.8|UMLS:CN227633 X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. UMLS:CN227633|ORPHA:85338 http://purl.obolibrary.org/obo/MONDO_0019430 ordo_disease NCBITaxon:1521262 Polypodiidae organism taxon mondo PMID:21652310|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1521262 Polypodiidae MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis biolink:Disease mondo Orphanet:85408|ICD10:M08.3 Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset. ORPHA:85408 http://purl.obolibrary.org/obo/MONDO_0019432 rheumatoid factor-negative JIA|polyarthritis without rheumatoid factor|juvenile rheumatoid factor-negative polyarthritis ordo_disease GO:0030194 positive regulation of blood coagulation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of blood coagulation. http://purl.obolibrary.org/obo/GO_0030194 up regulation of blood coagulation|activation of blood coagulation|stimulation of blood coagulation|upregulation of blood coagulation|up-regulation of blood coagulation MONDO:0019431 primitive portal vein thrombosis biolink:Disease mondo MedDRA:10036206|ICD10:I81|Orphanet:854 Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system. UMLS:C0155773|MEDDRA:10036206|ORPHA:854 http://purl.obolibrary.org/obo/MONDO_0019431 non-cirrhotic portal vein thrombosis ordo_clinical_syndrome GO:0030195 negative regulation of blood coagulation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. http://purl.obolibrary.org/obo/GO_0030195 down-regulation of blood coagulation|down regulation of blood coagulation|downregulation of blood coagulation|inhibition of blood coagulation MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary biolink:Disease mondo SCTID:715314008|OMIM:126050 SNOMEDCT:715314008|http://identifiers.org/omim/126050 http://purl.obolibrary.org/obo/MONDO_0007458 ulnar drift, hereditary|digitotalar dysmorphism MONDO:0007459 dilution, pigmentary biolink:Disease mondo GARD:0006731|OMIM:126070|UMLS:C1876214|SCTID:23006000 SNOMEDCT:23006000|UMLS:C1876214|http://identifiers.org/omim/126070 http://purl.obolibrary.org/obo/MONDO_0007459 hypomelanotic disorder|hypopigmentation|dilution, pigmentary|albinism, partial|Albinoidism, oculocutaneous, autosomal dominant MONDO:0020412 congenital patent ductus arteriosus aneurysm biolink:Disease mondo Orphanet:99072|SCTID:763316006|ICD10:Q25.8 Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported. ORPHA:99072|SNOMEDCT:763316006 http://purl.obolibrary.org/obo/MONDO_0020412 ordo_morphological_anomaly MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency biolink:Disease mondo OMIM:125890|MESH:C565099|UMLS:C1852087 UMLS:C1852087|MESH:C565099|http://identifiers.org/omim/125890 http://purl.obolibrary.org/obo/MONDO_0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency MONDO:0007457 diastema, dental medial biolink:Disease mondo MESH:C565098|OMIM:125900 http://identifiers.org/omim/125900|MESH:C565098 http://purl.obolibrary.org/obo/MONDO_0007457 diastema, dental medial MONDO:0020411 aorto-left ventricular tunnel biolink:Disease mondo Orphanet:99071|ICD10:Q20.8 UMLS:C0345054|ORPHA:99071 http://purl.obolibrary.org/obo/MONDO_0020411 ordo_clinical_subtype MONDO:0007454 type 1 diabetes mellitus 2 biolink:Disease mondo MESH:C565100|DOID:0110741|UMLS:C1852092|ICD10:E10|OMIM:125852 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene. DOID:0110741|UMLS:C1852092|http://identifiers.org/omim/125852|MESH:C565100 http://purl.obolibrary.org/obo/MONDO_0007454 IDDM2|diabetes mellitus, insulin-dependent, 2|INS type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 2|type 1 diabetes mellitus caused by mutation in INS|insulin-dependent diabetes mellitus 2 MONDO:0020410 aorto-right ventricular tunnel biolink:Disease mondo Orphanet:99070|ICD10:Q20.8 UMLS:C0345055|ORPHA:99070 http://purl.obolibrary.org/obo/MONDO_0020410 ordo_clinical_subtype MONDO:0007455 obsolete diabetes mellitus, noninsulin-dependent biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007455 MONDO:0007452 maturity-onset diabetes of the young type 1 biolink:Disease mondo OMIM:125850|UMLS:C1852093|DOID:0111099|GARD:0003418|NCIT:C129744|SCTID:609562003|MESH:C565101 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. SNOMEDCT:609562003|UMLS:C1852093|DOID:0111099|http://identifiers.org/omim/125850|NCIT:C129744|MESH:C565101 http://purl.obolibrary.org/obo/MONDO_0007452 MODY, type 1|type 1 maturity-onset diabetes of the young|MODY type 1|maturity onset diabetes of the Young, type 1|MODY1|maturity-onset diabetes of the young, type 1; MODY1|mild juvenile diabetes mellitus|maturity-onset diabetes of the young, type 1|diabetes mellitus MODY type 1|diabetes mellitus type 2|MODY HNF4A related|HNF4A-associated monogenic diabetes|hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes gard_rare MONDO:0007453 maturity-onset diabetes of the young type 2 biolink:Disease mondo DOID:0111100|GARD:0010657|SCTID:237604008|NCIT:C129741|OMIM:125851 Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. SNOMEDCT:237604008|http://identifiers.org/omim/125851|DOID:0111100|NCIT:C129741 http://purl.obolibrary.org/obo/MONDO_0007453 MODY, type 2|MODY2|MODY type 2|type 2 maturity-onset diabetes of the young|GCK maturity-onset diabetes of the young (disease)|MODY glucokinase-related|maturity-onset diabetes of the young, type 2; MODY2|MODY, glucokinase-related|MODY 2 monogenic diabetes type 2|diabetes mellitus MODY type 2|maturity-onset diabetes of the young, type 2|maturity-onset diabetes of the young (disease) caused by mutation in GCK|GCK-associated diabetes mellitus|glucokinase-associated diabetes mellitus|maturity onset diabetes of the Young, type 2 gard_rare MONDO:0007450 neurohypophyseal diabetes insipidus biolink:Disease mondo Orphanet:30925|ICD10:E23.2|DOID:12388|SCTID:45369008|OMIM:125700|NCIT:C84933 Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. SNOMEDCT:45369008|NCIT:C84933|http://identifiers.org/omim/125700|ORPHA:30925|DOID:12388 http://purl.obolibrary.org/obo/MONDO_0007450 diabetes insipidus of pituitary gland|neurogenic diabetes insipidus|diabetes insipidus, neurohypophyseal|central diabetes insipidus|diabetes insipidus, cranial type|hereditary CDI|antidiuretic hormone deficiency|vasopressin defective diabetes insipidus|diabetes insipidus, primary central|hereditary central diabetes insipidus|pituitary diabetes insipidus|ADH deficiency|hereditary neurogenic diabetes insipidus|Arginine vasopressin deficiency|pituitary gland diabetes insipidus|neurogenic diabetes insipidus|vasopressin deficiency|AVP deficiency ordo_clinical_subtype MONDO:0007451 diabetes insipidus, nephrogenic, autosomal biolink:Disease mondo OMIM:125800|UMLS:C1563706 UMLS:C1563706|http://identifiers.org/omim/125800 http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, type 2|diabetes insipidus, nephrogenic, autosomal MONDO:0020409 univentricular heart with single atrio-ventricular valve biolink:Disease mondo Orphanet:99069|ICD10:Q20.4 ORPHA:99069 http://purl.obolibrary.org/obo/MONDO_0020409 ordo_clinical_subtype MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome biolink:Disease mondo ICD10:Q21.2|Orphanet:99068|UMLS:CN207280 UMLS:CN207280|ORPHA:99068 http://purl.obolibrary.org/obo/MONDO_0020408 CAVC-Fallot tetralogy syndrome|CAVC type C|complete atrioventricular canal type C ordo_clinical_subtype GO:0030182 neuron differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of a neuron. http://purl.obolibrary.org/obo/GO_0030182 MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome biolink:Disease mondo ICD10:Q21.2|UMLS:CN207279|Orphanet:99067 UMLS:CN207279|ORPHA:99067 http://purl.obolibrary.org/obo/MONDO_0020407 CAVC-ventricle hypoplasia syndrome|CAVC type B|complete atrioventricular canal type B ordo_clinical_subtype MONDO:0020406 complete atrioventricular canal-left heart obstruction syndrome biolink:Disease mondo ICD10:Q21.2|UMLS:CN207278|Orphanet:99066 ORPHA:99066|UMLS:CN207278 http://purl.obolibrary.org/obo/MONDO_0020406 CAVC-left heart obstruction syndrome|CAVC type A|complete atrioventricular canal type A ordo_clinical_subtype MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type biolink:Disease mondo Orphanet:85334|SCTID:718849008|UMLS:CN206185|ICD10:G31.8 X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. ORPHA:85334|UMLS:CN206185|SNOMEDCT:718849008 http://purl.obolibrary.org/obo/MONDO_0019427 ordo_disease MONDO:0020405 straddling and/or overriding mitral valve biolink:Disease mondo ICD10:Q23.8|Orphanet:99064 ORPHA:99064 http://purl.obolibrary.org/obo/MONDO_0020405 ordo_clinical_subtype MONDO:0019426 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:85330|GARD:0012489|UMLS:CN206182 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. ORPHA:85330|UMLS:CN206182 http://purl.obolibrary.org/obo/MONDO_0019426 X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis ordo_disease MONDO:0020404 shone complex biolink:Disease mondo SCTID:41371000119100|MedDRA:10066802|UMLS:C1868705|ICD10:Q23.8|ICD9:746.84|NCIT:C99058|Orphanet:99063 A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. SNOMEDCT:41371000119100|ORPHA:99063|MEDDRA:10066802|NCIT:C99058|UMLS:C1868705 http://purl.obolibrary.org/obo/MONDO_0020404 shone syndrome|shone's syndrome (greater than 3 sites) ordo_malformation_syndrome MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type biolink:Disease mondo ICD10:G31.8|Orphanet:85336|UMLS:CN206187|SCTID:718847005 X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. ORPHA:85336|SNOMEDCT:718847005|UMLS:CN206187 http://purl.obolibrary.org/obo/MONDO_0019429 ordo_disease MONDO:0020403 congenital mitral valve agenesis biolink:Disease mondo ICD10:Q23.3|Orphanet:99062 Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation. ORPHA:99062 http://purl.obolibrary.org/obo/MONDO_0020403 ordo_morphological_anomaly MONDO:0020402 congenital accessory mitral valve tissue biolink:Disease mondo ICD10:Q23.8|Orphanet:99061 Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations. ORPHA:99061 http://purl.obolibrary.org/obo/MONDO_0020402 ordo_morphological_anomaly MONDO:0019428 fried syndrome biolink:Disease mondo SCTID:718848000|UMLS:C4305134|Orphanet:85335|ICD10:Q87.8|UMLS:CN206186 Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. SNOMEDCT:718848000|ORPHA:85335|UMLS:CN206186|UMLS:C4305134 http://purl.obolibrary.org/obo/MONDO_0019428 ordo_malformation_syndrome MONDO:0019423 X-linked intellectual disability, Stoll type biolink:Disease mondo UMLS:CN206179|ICD10:Q87.8|SCTID:718911005|Orphanet:85326 X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. SNOMEDCT:718911005|UMLS:CN206179|ORPHA:85326 http://purl.obolibrary.org/obo/MONDO_0019423 ordo_malformation_syndrome MONDO:0019422 X-linked intellectual disability, Stevenson type biolink:Disease mondo SCTID:718909001|ICD10:Q87.8|UMLS:CN206178|Orphanet:85325 An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. UMLS:CN206178|ORPHA:85325|SNOMEDCT:718909001 http://purl.obolibrary.org/obo/MONDO_0019422 ordo_malformation_syndrome MONDO:0019425 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:85329|UMLS:CN206181 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22. ORPHA:85329|UMLS:CN206181 http://purl.obolibrary.org/obo/MONDO_0019425 ordo_malformation_syndrome MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome biolink:Disease mondo UMLS:CN227631|ICD10:Q87.8|Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. ORPHA:85327|UMLS:CN227631 http://purl.obolibrary.org/obo/MONDO_0019424 ordo_disease MONDO:0019421 X-linked intellectual disability, Seemanova type biolink:Disease mondo Orphanet:85323|ICD10:Q87.8|UMLS:CN227630|SCTID:718897009 X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. SNOMEDCT:718897009|UMLS:CN227630|ORPHA:85323 http://purl.obolibrary.org/obo/MONDO_0019421 ordo_disease GO:0030183 B cell differentiation biolink:OntologyClass mondo The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. http://purl.obolibrary.org/obo/GO_0030183 B-lymphocyte differentiation|B cell development|B-cell differentiation|B lymphocyte differentiation MONDO:0019420 X-linked intellectual disability, Pai type biolink:Disease mondo ICD10:Q87.8|Orphanet:85322|UMLS:CN206176|SCTID:719011002 X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome. UMLS:CN206176|SNOMEDCT:719011002|ORPHA:85322 http://purl.obolibrary.org/obo/MONDO_0019420 ordo_malformation_syndrome MONDO:0020481 myotonia fluctuans biolink:Disease mondo NCIT:C122789|ICD10:G71.1|SCTID:715788001|UMLS:C0752355|Orphanet:99734 Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. SNOMEDCT:715788001|NCIT:C122789|ORPHA:99734|UMLS:C0752355 http://purl.obolibrary.org/obo/MONDO_0020481 Fluctuating myotonia|exercise-induced delayed-onset myotonia|MF ordo_disease MONDO:0019492 obsolete desmoid tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019492 MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency biolink:Disease mondo GARD:0003705|Orphanet:99732|OMIMPS:252150|DOID:0111165|ICD10:E72.1 ORPHA:99732|DOID:0111165 http://purl.obolibrary.org/obo/MONDO_0020480 combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase|molybdenum cofactor deficiency|combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase|MOCOD ordo_clinical_subtype MONDO:0019491 obsolete rare intellectual disability biolink:Disease mondo UMLS:CN227638|Orphanet:87277 Rare intellectual disability. ORPHA:87277|UMLS:CN227638 http://purl.obolibrary.org/obo/MONDO_0019491 rare intellectual disability ordo_group_of_disorders|obsoletion_candidate MONDO:0019494 primary pediatric heart tumor biolink:Disease mondo UMLS:CN206281|Orphanet:875|ICD10:D15.1|ICD10:C38.0 Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. ORPHA:875|UMLS:CN206281 http://purl.obolibrary.org/obo/MONDO_0019494 pediatric heart neoplasm|heart tumor of child|Cardiac tumor of child ordo_disease MONDO:0019493 primary adult heart tumor biolink:Disease mondo UMLS:CN206280|ICD10:D15.1|Orphanet:874|SCTID:715403006|ICD10:C38.0|UMLS:C4275152 Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms). ORPHA:874|UMLS:CN206280|UMLS:C4275152|SNOMEDCT:715403006 http://purl.obolibrary.org/obo/MONDO_0019493 adult heart tumor|adult cardiac tumor ordo_disease MONDO:0019490 progressive familial heart block biolink:Disease mondo DOID:0111073|ICD9:426.6|Orphanet:871|DC:0000374|OMIMPS:113900|ICD10:I45.8|UMLS:CN206278|SCTID:93130009|SCTID:698249005|GARD:0010005 Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. DOID:0111073|SNOMEDCT:93130009|SNOMEDCT:698249005|ORPHA:871|UMLS:CN206278 http://purl.obolibrary.org/obo/MONDO_0019490 PFHB|familial progressive cardiac conduction defect|familial progressive heart block|familial Lev-Lenegre disease|hereditary bundle branch defect|familial Lenegre disease|familial Lev disease|familial PCCD|familial Lenègre disease|familial Lev-Lenègre disease ordo_disease MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 biolink:Disease mondo Orphanet:99763|UMLS:C4289986|ICD10:E27.4 UMLS:C4289986|ORPHA:99763 http://purl.obolibrary.org/obo/MONDO_0020489 FHHA1|CMO I|CMO II|corticosterone methyloxidase deficiency type I|18-hydroxylase deficiency|aldosterone synthase deficiency|18-oxidase deficiency ordo_etiological_subtype MONDO:0020488 atypical progressive supranuclear palsy syndrome biolink:Disease mondo Orphanet:99750|ICD10:G23.1 Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA). UMLS:C1850077|ORPHA:99750 http://purl.obolibrary.org/obo/MONDO_0020488 atypical PSP syndrome ordo_clinical_subtype MONDO:0020487 Pontiac fever biolink:Disease mondo MedDRA:10054161|SCTID:240447002|ICD9:041.89|DOID:0050150|ICD10:A48.2|UMLS:C0343528|Orphanet:99748|NCIT:C128335 Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia. UMLS:C0343528|MEDDRA:10054161|SNOMEDCT:240447002|ORPHA:99748|DOID:0050150|NCIT:C128335 http://purl.obolibrary.org/obo/MONDO_0020487 ordo_clinical_subtype MONDO:0020486 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020486 MONDO:0020485 King-Denborough syndrome biolink:Disease mondo MESH:C536883|GARD:0008433|SCTID:764957003|Orphanet:99741|ICD10:G71.2|GARD:0008561|MESH:C537504 King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. MESH:C536883|UMLS:C1840365|SNOMEDCT:764957003|ORPHA:99741|MESH:C537504 http://purl.obolibrary.org/obo/MONDO_0020485 anesthetic-induced malignant hyperpyrexia in children|Kousseff Nichols syndrome|King Denborough syndrome|Koussef-Nichols syndrome|Noonan like contracture myopathy hyperpyrexia ordo_malformation_syndrome|gard_rare MONDO:0020484 rare familial disorder with hypertrophic cardiomyopathy biolink:Disease mondo Orphanet:99739 MESH:D024741|UMLS:C0949658|ORPHA:99739 http://purl.obolibrary.org/obo/MONDO_0020484 rare familial disorder with hypertrophic obstructive cardiomyopathy|rare familial disorder with hypertrophic subaortic stenosis ordo_group_of_disorders|obsoletion_candidate MONDO:0020483 acetazolamide-responsive myotonia biolink:Disease mondo SCTID:715793003|ICD10:G71.1|Orphanet:99736 Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ). SNOMEDCT:715793003|ORPHA:99736 http://purl.obolibrary.org/obo/MONDO_0020483 painful myotonia|ACZ-responsive myotonia|Acetazolamide-responsive congenital myotonia|ACZ-responsive congenital myotonia|painful congenital myotonia|myotonia-painful contractions syndrome ordo_disease MONDO:0020482 myotonia permanens biolink:Disease mondo SCTID:715789009|UMLS:CN207354|ICD10:G71.1|Orphanet:99735 Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM). SNOMEDCT:715789009|ORPHA:99735|UMLS:CN207354 http://purl.obolibrary.org/obo/MONDO_0020482 ordo_disease MONDO:0020479 pituitary gigantism biolink:Disease mondo Orphanet:99725|GARD:0006506|SCTID:86073008|MedDRA:10018265|MESH:D005877|ICD10:E22.0 The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age. MEDDRA:10018265|ORPHA:99725|SNOMEDCT:86073008|MESH:D005877|UMLS:C0017547 http://purl.obolibrary.org/obo/MONDO_0020479 infantile and juvenile forms of acromegaly|hypophyseal gigantism|gigantism ordo_disease MONDO:0019499 Turner syndrome biolink:Disease mondo ICD10:Q96.2|UMLS:C0041408|ICD10:Q96.1|SCTID:38804009|ICD10:Q96|NCIT:C26900|GARD:0002459|MESH:D014424|GARD:0002458|ICD10:Q96.0|GARD:0002540|ICD10:Q96.8|GARD:0007831|MedDRA:10045181|Orphanet:881|ICD9:758.7|ICD10:Q96.4|COHD:4307885|DOID:3491|ICD10:Q96.3|ICD10:Q96.9 Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. MESH:D014424|UMLS:C0041408|SNOMEDCT:38804009|ORPHA:881|DOID:3491|MEDDRA:10045181|NCIT:C26900 http://purl.obolibrary.org/obo/MONDO_0019499 monosomy X|45,X0 syndrome|karyotype 45, X|gonadal dysgenesis Turner type|genital dwarfism|monosomy X syndrome|Turner Varny syndrome|45X syndrome|45,X gonadal dysgenesis|chromosome X monosomy X|45,X/46,XX syndrome|gonadal dysgenesis - Turner|gonadal dysgenesis|gonadal dysgenesis (45,X)|45, X syndrome|Schereshevkii Turner syndrome|45,X syndrome|Bonnevie-Ullrich syndrome|Bonnevie-Ulrich syndrome|XO syndrome|Ullrich-Turner syndrome|genital dwarfism, Turner type gard_rare|ordo_malformation_syndrome MONDO:0019496 neuroendocrine neoplasm biolink:Disease mondo SCTID:255046005|ICD9:209-209.99|ICD9:209|ICD9:239.7|NCIT:C3809|MESH:D018358|Orphanet:877|ICD10:D3A.8|UMLS:C0003650|COHD:434300|DOID:169|EFO:1001901|UMLS:C0206754|UMLS:CN206284 Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). NCIT:C3809|DOID:169|SNOMEDCT:255046005|ORPHA:877|UMLS:C0206754|UMLS:CN206284|MESH:D018358|UMLS:C0003650 http://purl.obolibrary.org/obo/MONDO_0019496 APUDoma|neuroendocrine tumor|neuroendocrine neoplasm ordo_group_of_disorders MONDO:0019495 obsolete yolk sac tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019495 MONDO:0019498 tungiasis biolink:Disease mondo ICD9:134.1|EFO:1001445|ICD10:B88.1|Orphanet:879|MESH:D058285|SCTID:64612002|UMLS:C0277356|DOID:0050266|GARD:0000393 An disease or disorder caused by infection with Tunga penetrans. DOID:0050266|UMLS:C0277356|ORPHA:879|SNOMEDCT:64612002|MESH:D058285 http://purl.obolibrary.org/obo/MONDO_0019498 Sarcopsylla penetrans|Tunga penetrans infectious disease|Tunga penetrans|Tunga penetrans caused disease or disorder|chigger flea|T penetrans|S penetrans|Tunga penetrans disease or disorder ordo_disease|gard_rare HGNC:20509 ZC3H14 biolink:OntologyClass mondo http://identifiers.org/hgnc/20509 MONDO:0019497 nonsyndromic genetic deafness biolink:Disease mondo ICD10:H90.5|EFO:0009076|DOID:0050563|Orphanet:87884|UMLS:CN043648|GARD:0006410|MESH:C580334 A disease characterized by hearing loss that is not part of a larger syndrome. ORPHA:87884|DOID:0050563|UMLS:CN043648|MESH:C580334 http://purl.obolibrary.org/obo/MONDO_0019497 nonsyndromic hearing loss|non-syndromic genetic deafness|nonsyndromic hearing loss|familial deafness|isolated genetic deafness|nonsyndromic deafness|nonsyndromic hereditary hearing loss gard_rare|ordo_group_of_disorders MONDO:0020470 49,XYYYY syndrome biolink:Disease mondo UMLS:C4518342|UMLS:CN207332|SCTID:734028007|Orphanet:99330|ICD10:Q98.8 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. UMLS:CN207332|SNOMEDCT:734028007|UMLS:C4518342|ORPHA:99330 http://purl.obolibrary.org/obo/MONDO_0020470 ordo_malformation_syndrome MONDO:0019481 obsolete follicular dendritic cell sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019481 MONDO:0019480 Langerhans cell sarcoma biolink:Disease mondo ICD10:C96.4|Orphanet:86897|ICDO:9756/3|MESH:D054752|DOID:7146|NCIT:C6921|SCTID:724649000|EFO:0007336|GARD:0010491|UMLS:C1260327|ONCOTREE:LCS A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001) SNOMEDCT:724649000|ORPHA:86897|MESH:D054752|NCIT:C6921|DOID:7146|UMLS:C1260327 http://purl.obolibrary.org/obo/MONDO_0019480 sarcoma of Langerhans cell|LCS|Langerhans cell sarcoma|malignant Langerhans cell sarcoma gard_rare|ordo_disease MONDO:0019483 methotrexate-associated lymphoproliferative disorders biolink:Disease mondo DOID:5821|NCIT:C7184|UMLS:C1334749|UMLS:CN206264|Orphanet:86904 Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. UMLS:C1334749|ORPHA:86904|DOID:5821|NCIT:C7184|UMLS:CN206264 http://purl.obolibrary.org/obo/MONDO_0019483 MTX-associated lymphoproliferative disorders|methotrexate-associated lymphoproliferation|MTX-LPD|methotrexate-associated lymphoproliferative disorder ordo_disease MONDO:0019482 dendritic cell sarcoma not otherwise specified biolink:Disease mondo ICD10:C96.4|Orphanet:86903 ORPHA:86903|UMLS:C1301364 http://purl.obolibrary.org/obo/MONDO_0019482 ordo_disease MONDO:0020478 Leber plus disease biolink:Disease mondo UMLS:CN207347|ICD10:H47.2|UMLS:C4304725|SCTID:719430008|Orphanet:99718 Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations. ORPHA:99718|UMLS:CN207347|UMLS:C4304725|SNOMEDCT:719430008 http://purl.obolibrary.org/obo/MONDO_0020478 LHON plus disease ordo_disease MONDO:0020477 progeria-associated arthropathy biolink:Disease mondo Orphanet:99706 ORPHA:99706 http://purl.obolibrary.org/obo/MONDO_0020477 ordo_disease MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis biolink:Disease mondo Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits. ORPHA:99701 http://purl.obolibrary.org/obo/MONDO_0020476 MTLE-HS ordo_disease MONDO:0020475 dermotrichic syndrome biolink:Disease mondo Orphanet:99688|UMLS:CN207344 UMLS:CN207344|ORPHA:99688 http://purl.obolibrary.org/obo/MONDO_0020475 ordo_malformation_syndrome MONDO:0020474 cheirospondyloenchondromatosis biolink:Disease mondo Orphanet:99647|UMLS:C4510810|SCTID:725104005 Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. SNOMEDCT:725104005|UMLS:C4510810|ORPHA:99647 http://purl.obolibrary.org/obo/MONDO_0020474 generalized enchondromatosis with platyspondyly ordo_disease NCBITaxon:29105 Calomys organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29105 MONDO:0020473 dappled diaphyseal dysplasia biolink:Disease mondo ICD9:756.59|SCTID:389262009|Orphanet:99645|UMLS:C1300227|ICD10:Q77.3 UMLS:C1300227|SNOMEDCT:389262009|ORPHA:99645 http://purl.obolibrary.org/obo/MONDO_0020473 ordo_disease MONDO:0020472 Turner syndrome due to structural X chromosome anomalies biolink:Disease mondo ICD10:Q96.1|UMLS:CN207336|Orphanet:99413|ICD10:Q96.2 UMLS:CN207336|ORPHA:99413 http://purl.obolibrary.org/obo/MONDO_0020472 ordo_etiological_subtype MONDO:0020471 obsolete pituitary adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020471 MONDO:0020469 48,XYYY syndrome biolink:Disease mondo UMLS:C4518082|Orphanet:99329|SCTID:733625003|ICD10:Q98.8|UMLS:CN207331|GARD:0011985 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. ORPHA:99329|SNOMEDCT:733625003|UMLS:CN207331|UMLS:C4518082 http://purl.obolibrary.org/obo/MONDO_0020469 48,XYYY ordo_malformation_syndrome MONDO:0020468 paternal uniparental disomy of chromosome 13 biolink:Disease mondo ICD10:Q99.8|Orphanet:99324 Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. ORPHA:99324 http://purl.obolibrary.org/obo/MONDO_0020468 paternal uniparental disomy of chromosome type 13|UPD(13)pat ordo_malformation_syndrome MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome biolink:Disease mondo UMLS:CN206272|ICD10:Q82.8|Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. ORPHA:86918|UMLS:CN206272 http://purl.obolibrary.org/obo/MONDO_0019489 diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome ordo_disease FOODON:03411261 fungus biolink:OntologyClass mondo A member of the group of eukaryotic organisms in the kingdom Fungi that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms. http://purl.obolibrary.org/obo/FOODON_03411261 fungi MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies biolink:Disease mondo ICD10:G40.4|Orphanet:86913 ORPHA:86913 http://purl.obolibrary.org/obo/MONDO_0019488 myoclonic status in non-progressive encephalopathies|myoclonus epilepsy in non-progressive encephalopathies ordo_malformation_syndrome MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome biolink:Disease mondo Orphanet:86908|SCTID:230407006|ICD10:G40.4 UMLS:C0549118|ORPHA:86908|SNOMEDCT:230407006 http://purl.obolibrary.org/obo/MONDO_0019485 IHHS|HHE syndrome|hemiconvulsion-hemiplegia-epilepsy syndrome ordo_disease MONDO:0019484 hypothalamic hamartomas with gelastic seizures biolink:Disease mondo ICD10:G40.5|Orphanet:86906 Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. ORPHA:86906 http://purl.obolibrary.org/obo/MONDO_0019484 ordo_disease MONDO:0019487 epilepsy with myoclonic absences biolink:Disease mondo Orphanet:86911|SCTID:230422001|ICD10:G40.4 ORPHA:86911|SNOMEDCT:230422001 http://purl.obolibrary.org/obo/MONDO_0019487 ordo_disease MONDO:0019486 myoclonic epilepsy of infancy biolink:Disease mondo ICD10:G40.3|Orphanet:86909|UMLS:CN206266 ORPHA:86909|UMLS:C0751120|UMLS:CN206266 http://purl.obolibrary.org/obo/MONDO_0019486 benign myoclonus epilepsy of infancy|benign myoclonic epilepsy of infancy ordo_disease GO:0030162 regulation of proteolysis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. http://purl.obolibrary.org/obo/GO_0030162 regulation of peptidolysis MONDO:0019470 aggressive NK-cell leukemia biolink:Disease mondo UMLS:C1292777|ICDO:9948/3|ICD10:C94.8|MedDRA:10028811|ICD10:C94.7|DOID:1035|Orphanet:86873|GARD:0010493|SCTID:721310007|NCIT:C8647|ONCOTREE:ANKL A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen. SNOMEDCT:721310007|ORPHA:86873|NCIT:C8647|DOID:1035|MEDDRA:10028811|UMLS:C1292777 http://purl.obolibrary.org/obo/MONDO_0019470 NK-cell leukemia|ANKCL|aggressive NK-cell lymphoma|leukemia (disease) of natural killer cell|NK-cell large granular lymphocyte leukemia|NK cell leukemia|aggressive NK cell leukemia|aggressive NK-cell leukemia|ANKL|NK-cell LGL leukemia|aggressive NK-cell leukemia (morphologic abnormality)|aggressive NK-cell leukemia/lymphoma|natural killer cell leukemia (disease)|large granular lymphocyte leukemia, NK-cell type|aggressive natural killer cell leukemia|natural Killer cell leukemia|natural killer cell leukemia gard_rare|ordo_disease MONDO:0019472 extranodal nasal NK/T cell lymphoma biolink:Disease mondo Orphanet:86879|NCIT:C4684|ICD10:C86.0|ICDO:9719/3|GARD:0013270|MedDRA:10065855|UMLS:C0392788 Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described. UMLS:C0392788|MEDDRA:10065855|MESH:D054391|ORPHA:86879|NCIT:C4684 http://purl.obolibrary.org/obo/MONDO_0019472 reticulosis, malignant|NKTCL|lethal midline granuloma|Extranodal NK/T lymphoma-nasal|Extranodal NK/T-cell lymphoma, nasal type|angiocentric T-cell lymphoma|nasal type Extranodal NK/T-cell lymphoma|nasal T/natural killer-cell lymphoma|NK/T-cell lymphoma ordo_disease NCBITaxon:1868215 Orthopneumovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1868215 MONDO:0019471 adult T-cell leukemia/lymphoma biolink:Disease mondo MedDRA:10001413|ICD9:204.80|NCIT:C3184|GARD:0013103|DOID:0050523|Orphanet:86875|ONCOTREE:ATLL|ICDO:9827/3|UMLS:C0023493|ICD10:C91.50|ICD10:C91.5|SCTID:110007008 A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa. MESH:D015459|ORPHA:86875|DOID:0050523|UMLS:C0023493|MEDDRA:10001413|NCIT:C3184|SNOMEDCT:110007008 http://purl.obolibrary.org/obo/MONDO_0019471 adult T-cell leukemia|adult T-cell lymphoma|adult T-cell leukaemia/lymphoma (HTLV-1 positive)|HTLV-1 associated adult T-cell lymphoma/leukemia|HTLV-I associated adult T-cell leukemia/lymphoma|T-cell leukemia of adults|adult T cell lymphoma/leukemia|ATLL|adult T-cell leukemia|adult T-cell lymphoma/leukemia|adult T-cell leukemia/lymphoma|adult T-cell leukaemia ordo_disease MONDO:0007489 dysplasia epiphysealis hemimelica biolink:Disease mondo Orphanet:1822|OMIM:127800|ICD10:Q74.8|MESH:C537997|GARD:0002019|ICD9:756.59|SCTID:205480005|UMLS:C0432282 Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rarecondition that most commonly affects the epiphysis (the end) of long bones in children.Early diagnosis and treatment are necessary to prevent jointdysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity.Thecause ofdysplasia epiphysealis hemimelica is not known. http://identifiers.org/omim/127800|ORPHA:1822|SNOMEDCT:205480005|MESH:C537997|UMLS:C0432282 http://purl.obolibrary.org/obo/MONDO_0007489 Trevor disease|dysplasia epiphysealis hemimelica ordo_malformation_syndrome|gard_rare GO:0042101 T cell receptor complex biolink:OntologyClass mondo A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. http://purl.obolibrary.org/obo/GO_0042101 T-lymphocyte receptor complex|TCR complex|T lymphocyte receptor complex|T-cell receptor complex|TCR MONDO:0020467 mosaic monosomy X biolink:Disease mondo ICD10:Q96.4|Orphanet:99228|ICD10:Q96.3|SCTID:710010005|UMLS:C4040907|UMLS:CN776903 SNOMEDCT:710010005|UMLS:CN776903|UMLS:C4040907|ORPHA:99228 http://purl.obolibrary.org/obo/MONDO_0020467 Mosaic monosomy type X|XX/XO|Mosaic Turner syndrome ordo_etiological_subtype MONDO:0020466 monosomy X biolink:Disease mondo ICD10:Q96.9|Orphanet:99226|NCIT:C36630|UMLS:CN776902|SCTID:710008008 SNOMEDCT:710008008|UMLS:CN776902|NCIT:C36630|ORPHA:99226 http://purl.obolibrary.org/obo/MONDO_0020466 monosomy type X ordo_etiological_subtype MONDO:0007487 dyslexia, susceptibility to, 1 biolink:Disease mondo OMIM:127700 http://identifiers.org/omim/127700 http://purl.obolibrary.org/obo/MONDO_0007487 DYX1|Word-blindness, congenital|dyslexia, susceptibility to, 7|dyslexia, susceptibility to, 1; DYX1|dyslexia, susceptibility to, 4|dyslexia, susceptibility to, type 1|dyslexia, susceptibility to, 1|susceptibility to dyslexia 1|reading disability, specific, 1 predisposition MONDO:0020465 congenital eyelid retraction biolink:Disease mondo ICD10:Q10.3|SCTID:715769008|Orphanet:99176 Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. ORPHA:99176|SNOMEDCT:715769008 http://purl.obolibrary.org/obo/MONDO_0020465 ordo_morphological_anomaly MONDO:0020464 euryblepharon biolink:Disease mondo ICD10:Q10.1|UMLS:CN207327|SCTID:400954002|Orphanet:99172 Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment. UMLS:CN207327|SNOMEDCT:400954002|ORPHA:99172 http://purl.obolibrary.org/obo/MONDO_0020464 ordo_morphological_anomaly MONDO:0007488 Lewy body dementia biolink:Disease mondo COHD:380701|EFO:0006792|UMLS:C0752347|NCIT:C84826|ICD10:G31.83|ICD9:331.82|OMIM:127750|SCTID:312991009|DOID:12217|GARD:0003243 A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. NCIT:C84826|http://identifiers.org/omim/127750|SNOMEDCT:312991009|UMLS:C0752347|DOID:12217 http://purl.obolibrary.org/obo/MONDO_0007488 Lewy body disease|dementia, Lewy body; DLB|dementia, Lewy body|DLB|Lewy body dementia|diffuse Lewy body disease|diffuse Lewy body disease with gaze palsy|Lewy body variant of Alzheimer disease|dementia with Lewy bodies|Senile dementia of the Lewy body type GO:0044763 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0044763 MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 biolink:Disease mondo GARD:0006299|SCTID:707273001|DOID:0070014|MESH:C565079|OMIM:127550 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2. DOID:0070014|http://identifiers.org/omim/127550|SNOMEDCT:707273001|MESH:C565079 http://purl.obolibrary.org/obo/MONDO_0007485 DKCA|autosomal dominant dyskeratosis congenita 1|dyskeratosis congenita, autosomal dominant 1; DKCA1|dyskeratosis congenita, autosomal dominant 1|dyskeratosis congenita, autosomal dominant type 1|dyskeratosis congenita, Scoggins type|DKCA1|autosomal dominant dyskeratosis congenita|dyskeratosis congenita autosomal dominant|dyskeratosis congenita Scoggins type gard_rare|prototype_pattern MONDO:0020463 isolated congenital ectropion biolink:Disease mondo ICD10:Q10.1|Orphanet:99171 A congenital ectropion that is not part of a larger syndrome. ORPHA:99171 http://purl.obolibrary.org/obo/MONDO_0020463 nonsyndromic congenital ectropion ordo_morphological_anomaly MONDO:0020462 tarsal kink syndrome biolink:Disease mondo Orphanet:99170|UMLS:CN207325 Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery. UMLS:CN207325|ORPHA:99170 http://purl.obolibrary.org/obo/MONDO_0020462 ordo_morphological_anomaly MONDO:0007486 hereditary benign intraepithelial dyskeratosis biolink:Disease mondo OMIM:127600|NCIT:C3940|SCTID:400014002|ICD10:Q82.8|MESH:C562551|Orphanet:352657|UMLS:C0265966 A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported. http://identifiers.org/omim/127600|SNOMEDCT:400014002|ORPHA:352657|NCIT:C3940|UMLS:C0265966|MESH:C562551 http://purl.obolibrary.org/obo/MONDO_0007486 HBID|hereditary benign corneal intraepithelial dyskeratosis|dyskeratosis, hereditary benign intraepithelial; HBID|dyskeratosis, hereditary benign intraepithelial|Witkop-Von Sallmann disease|Dkbi ordo_disease MONDO:0007483 dyschromatosis symmetrica hereditaria biolink:Disease mondo NCIT:C118435|ICD10:L81.8|UMLS:C0406775|Orphanet:41|MESH:C535729|DOID:0060257|SCTID:239085000|EFO:0008878|GARD:0000334|OMIM:127400 Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs. http://identifiers.org/omim/127400|NCIT:C118435|UMLS:C0406775|SNOMEDCT:239085000|DOID:0060257|MESH:C535729|ORPHA:41 http://purl.obolibrary.org/obo/MONDO_0007483 dyschromatosis symmetrica hereditaria; DSH|RAD|familial reticulate acropigmentation of Dohi|DSH|acropigmentation of Dohi|dyschromatosis symmetrica hereditaria 1|symmetric dyschromatosis of the extremities|dyschromatosis symmetrica hereditaria|DSH1|reticulate acropigmentation of Dohi ordo_disease MONDO:0020461 epiblepharon biolink:Disease mondo ICD10:Q10.3|SCTID:253212001|Orphanet:99169|ICD9:743.63 SNOMEDCT:253212001|ORPHA:99169 http://purl.obolibrary.org/obo/MONDO_0020461 ordo_morphological_anomaly MONDO:0007484 obsolete dyschromatosis universalis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007484 MONDO:0020460 acquired von willebrand syndrome biolink:Disease mondo MedDRA:10069495|GARD:5573|ICD10:D68.4|Orphanet:99147|GARD:0005573|DOID:0111146|PMID:28028990|SCTID:234451005|MEDDRA:10069495|UMLS:C0272362 Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. DOID:0111146|MEDDRA:10069495|UMLS:C0272362|ORPHA:99147|SNOMEDCT:234451005 http://purl.obolibrary.org/obo/MONDO_0020460 acquired von Willebrand disease|acquired von Willebrand disease (hereditary or acquired)|AVWS|acquired von willebrand disease|Willebrand disease, acquired ordo_disease|gard_rare MONDO:0007481 Leri-Weill dyschondrosteosis biolink:Disease mondo SCTID:17818006|ICD10:Q77.8|ICD9:756.59|Orphanet:240|GARD:0003224|NCIT:C126560|OMIM:127300|UMLS:C0265309|DOID:0060847 LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity. MESH:C537119|ORPHA:240|UMLS:C0265309|SNOMEDCT:17818006|NCIT:C126560|DOID:0060847|http://identifiers.org/omim/127300 http://purl.obolibrary.org/obo/MONDO_0007481 Léri-Weill syndrome|LC)ri-Weill dyschondrosteosis|Leri-Weill syndrome|LC)ri-Weill syndrome|Léri-Weill dyschondrosteosis|Leri-Weill dyschondrosteosis; LWD|DCo|LWD|Madelung deformity|Leri-Weill dyschondrosteosis|Leri Weill dyschondrosteosis|dyschondrosteosis ordo_malformation_syndrome|gard_rare MONDO:0007482 dyschondrosteosis-nephritis syndrome biolink:Disease mondo MESH:C565080|Orphanet:1765|OMIM:127350|GARD:0001994|UMLS:C1851986|ICD10:Q87.8 Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. http://identifiers.org/omim/127350|UMLS:C1851986|ORPHA:1765|MESH:C565080 http://purl.obolibrary.org/obo/MONDO_0007482 dyschondrosteosis nephritis|dyschondrosteosis and nephritis|mesomelic shortening and hereditary nephritis gard_rare|ordo_malformation_syndrome MONDO:0007480 dwarfism with stiff joints and ocular abnormalities biolink:Disease mondo MESH:C535724|OMIM:127200|Orphanet:2569|SCTID:72913007|ICD9:759.89 ORPHA:2569|MESH:C535724|SNOMEDCT:72913007|http://identifiers.org/omim/127200 http://purl.obolibrary.org/obo/MONDO_0007480 Moore-Federman syndrome|dwarfism with stiff joints and ocular abnormalities GO:0042105 alpha-beta T cell receptor complex biolink:OntologyClass mondo A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. http://purl.obolibrary.org/obo/GO_0042105 alpha-beta T-lymphocyte receptor complex|alpha-beta TCR complex|alpha-beta T lymphocyte receptor complex|alpha-beta T-cell receptor complex MONDO:0020459 unstable hemoglobin disease biolink:Disease mondo ICD9:282.7|SCTID:18273004|Orphanet:99139|UMLS:C0272006 ORPHA:99139|SNOMEDCT:18273004|UMLS:C0272006 http://purl.obolibrary.org/obo/MONDO_0020459 ordo_disease MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction biolink:Disease mondo UMLS:C1863235|OMIM:102730|UMLS:CN207319|MESH:C566314|ICD10:D55.3|Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected. ORPHA:99138|http://identifiers.org/omim/102730|MESH:C566314|UMLS:CN207319|UMLS:C1863235 http://purl.obolibrary.org/obo/MONDO_0020458 adenosine deaminase, elevated, hemolytic anemia due to ordo_disease MONDO:0020457 6-phosphogluconate dehydrogenase deficiency biolink:Disease mondo ICD10:D55.1|Orphanet:99135 ORPHA:99135 http://purl.obolibrary.org/obo/MONDO_0020457 ordo_disease MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma biolink:Disease mondo UMLS:C1332210|MEDGEN:231044|NCIT:C7942 A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults. UMLS:C1332210|NCIT:C7942 http://purl.obolibrary.org/obo/MONDO_0019478 adult nodular lymphocyte predominant Hodgkin's lymphoma|adult nodular lymphocyte predominant Hodgkin's disease|adult NLPHD|nodular lymphocyte predominant Hodgkin lymphoma ordo_disease MONDO:0019477 obsolete angioimmunoblastic T-cell lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019477 GO:0030154 cell differentiation biolink:OntologyClass mondo The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. http://purl.obolibrary.org/obo/GO_0030154 MONDO:0019479 histiocytic sarcoma biolink:Disease mondo ICD10:C96.8|UMLS:C0334663|ONCOTREE:HS|NCIT:C27349|ICD9:171.9|SCTID:109988003|MESH:D054747|ICDO:9755/3|Orphanet:86896|ICD10:C96.A An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. UMLS:C0334663|SNOMEDCT:109988003|ORPHA:86896|MESH:D054747|NCIT:C27349 http://purl.obolibrary.org/obo/MONDO_0019479 histiocytic sarcoma|sarcoma, histiocytic, malignant ordo_disease GO:0030155 regulation of cell adhesion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. http://purl.obolibrary.org/obo/GO_0030155 cell adhesion receptor regulator activity MONDO:0019474 hepatosplenic T-cell lymphoma biolink:Disease mondo NCIT:C8459|ICDO:9716/3|ICD10:C86.1|MedDRA:10066957|SCTID:445406001|Orphanet:86882|ONCOTREE:HSTCL|UMLS:C1333984|ICD9:202.80 An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis. MEDDRA:10066957|UMLS:C1333984|ORPHA:86882|NCIT:C8459|SNOMEDCT:445406001 http://purl.obolibrary.org/obo/MONDO_0019474 Hepatosplenic gamma/Delta T-cell lymphoma|HSTCL ordo_disease MONDO:0019473 enteropathy-associated T-cell lymphoma biolink:Disease mondo UMLS:C0456889|GARD:0009809|SCTID:277654008|ICD10:C86.2|ICDO:9717/3|ONCOTREE:EATL|MESH:D058527|NCIT:C4737|MedDRA:10022703|Orphanet:86880|ICD9:202.70 An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease. NCIT:C4737|ORPHA:86880|MEDDRA:10022703|UMLS:C0456889|SNOMEDCT:277654008|MESH:D058527 http://purl.obolibrary.org/obo/MONDO_0019473 EATL|EATCL|ETTL|enteropathy-associated T-cell lymphoma, type I|enteropathy-type T-cell lymphoma|EATL, type I|enteropathy associated T-cell lymphoma|intestinal T-cell lymphoma|high-grade pleomorphic peripheral T-cell lymphoma gard_rare|ordo_disease MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified biolink:Disease mondo MedDRA:10034623|ICD10:C84.4|Orphanet:86885 MESH:D016411|ORPHA:86885|MEDDRA:10034623|UMLS:C0079774 http://purl.obolibrary.org/obo/MONDO_0019476 primary cutaneous peripheral T-cell lymphoma NOS|primary cutaneous unspecified peripheral T-cell lymphoma ordo_disease MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma biolink:Disease mondo OMIM:618398|SCTID:404133000|NCIT:C6918|ICD10:C83.6|MESH:C537503|EFO:1000552|ICD10:C86.3|UMLS:C0522624|Orphanet:86884|ICDO:9708/3|ONCOTREE:SPTCL|GARD:0010193|ICD9:202.70 Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue. MESH:C537503|ORPHA:86884|SNOMEDCT:404133000|http://identifiers.org/omim/618398|UMLS:C0522624|NCIT:C6918 http://purl.obolibrary.org/obo/MONDO_0019475 T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE; SPTCL|subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type|subcutaneous panniculitic T-cell lymphoma|subcutaneous panniculitis-like T-cell lymphoma|subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)|SPTCL ordo_disease MONDO:0019461 B-cell prolymphocytic leukemia biolink:Disease mondo SCTID:277619001|EFO:1000102|ICDO:9833/3|UMLS:C0475801|Orphanet:86852|MESH:D054403|NCIT:C4753|ONCOTREE:BPLL|ICD10:C91.3 A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly. NCIT:C4753|SNOMEDCT:277619001|ORPHA:86852|MESH:D054403|UMLS:C0475801 http://purl.obolibrary.org/obo/MONDO_0019461 B prolymphocytic leukemia|B-PLL|BPLL|B-cell prolymphocytic leukemia ordo_disease MONDO:0019460 acute leukemia of ambiguous lineage biolink:Disease mondo GARD:0008638|MedDRA:10067399|UMLS:C1301357|SCTID:721308005|Orphanet:86851|ICD10:C95.0|NCIT:C7464 An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001) MEDDRA:10067399|ORPHA:86851|UMLS:C1301357|NCIT:C7464|SNOMEDCT:721308005 http://purl.obolibrary.org/obo/MONDO_0019460 mixed phenotype acute leukemia|BAL|biphenotypic acute leukemia|mixed lineage acute leukemia|acute leukemia of ambiguous lineage|acute leukemia of undetermined lineage|acute leukemia of indeterminate lineage|hybrid acute leukemia|AML with lymphoid markers|ALL with myeloid markers ordo_group_of_disorders GO:0030148 sphingolipid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/GO_0030148 sphingolipid synthesis|sphingolipid formation|sphingolipid biosynthesis|sphingolipid anabolism HGNC:20502 SLC39A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/20502 MONDO:0020456 pleuro-pericardial cyst biolink:Disease mondo Orphanet:99131|ICD10:Q24.8 Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur. ORPHA:99131 http://purl.obolibrary.org/obo/MONDO_0020456 ordo_morphological_anomaly MONDO:0020455 congenital partial agenesis of pericardium biolink:Disease mondo ICD10:Q24.8|Orphanet:99130 Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare. ORPHA:99130 http://purl.obolibrary.org/obo/MONDO_0020455 ordo_morphological_anomaly MONDO:0020454 congenital complete agenesis of pericardium biolink:Disease mondo ICD10:Q24.8|Orphanet:99129 Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy. ORPHA:99129 http://purl.obolibrary.org/obo/MONDO_0020454 ordo_morphological_anomaly MONDO:0007498 ear exostoses biolink:Disease mondo OMIM:128300|UMLS:C0155411 UMLS:C0155411|http://identifiers.org/omim/128300 http://purl.obolibrary.org/obo/MONDO_0007498 ear exostoses|exostoses of external auditory canal MONDO:0007499 ear folding biolink:Disease mondo OMIM:128500 http://identifiers.org/omim/128500 http://purl.obolibrary.org/obo/MONDO_0007499 ear folding MONDO:0020453 congenital partial pulmonary venous return anomaly biolink:Disease mondo Orphanet:99124|SCTID:68237008|ICD10:Q26.3|NCIT:C99004 Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea. SNOMEDCT:68237008|NCIT:C99004|ORPHA:99124 http://purl.obolibrary.org/obo/MONDO_0020453 Partial anomalous pulmonary Venous connection|Partial anomalous pulmonary Venous return ordo_morphological_anomaly GO:0042113 B cell activation biolink:OntologyClass mondo The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/GO_0042113 B lymphocyte activation|B-cell activation|B-lymphocyte activation MONDO:0020452 inferior vena cava interruption biolink:Disease mondo ICD10:Q26.8|ICD9:747.49|Orphanet:99123|SCTID:93031005 SNOMEDCT:93031005|ORPHA:99123 http://purl.obolibrary.org/obo/MONDO_0020452 IVC interruption|Inferior caval vein interruption ordo_morphological_anomaly MONDO:0007496 dystonia 12 biolink:Disease mondo OMIM:128235|Orphanet:71517|DOID:0090056|UMLS:C1868681|SCTID:702323008|GARD:0009628|ICD10:G24.1|MESH:C538001 Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. MESH:C538001|UMLS:C1868681|DOID:0090056|ORPHA:71517|SNOMEDCT:702323008|http://identifiers.org/omim/128235 http://purl.obolibrary.org/obo/MONDO_0007496 dystonia-Parkinsonism, rapid-onset|dystonia 12|ATP1A3 dystonic disorder|rapid-onset dystonia-parkinsonism|dystonia 12; DYT12|dystonia type 12|dystonic disorder caused by mutation in ATP1A3|DYT-ATP1A3|RDP|DYT12 ordo_disease MONDO:0007497 ear antitragus, tag at base of biolink:Disease mondo OMIM:128290 http://identifiers.org/omim/128290 http://purl.obolibrary.org/obo/MONDO_0007497 ear antitragus, tag at base of MONDO:0020451 congenital stenosis of the inferior vena cava biolink:Disease mondo ICD9:747.49|ICD10:Q26.0|Orphanet:99122|SCTID:62335009 UMLS:C0265934|SNOMEDCT:62335009|ORPHA:99122 http://purl.obolibrary.org/obo/MONDO_0020451 congenital stenosis of the IVC|congenital stenosis of the inferior caval vein ordo_morphological_anomaly MONDO:0007494 episodic kinesigenic dyskinesia 1 biolink:Disease mondo SCTID:609221008|MESH:C537180|OMIM:128200|GARD:0008721|DOID:0090053|ICD10:G24.8|ICD9:333.5|Orphanet:98809 Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements. MESH:C537180|SNOMEDCT:609221008|ORPHA:98809|DOID:0090053|http://identifiers.org/omim/128200 http://purl.obolibrary.org/obo/MONDO_0007494 paroxysmal kinesigenic choreathetosis|episodic kinesigenic dyskinesia type 1|PRRT2 episodic kinesigenic dyskinesia|episodic kinesigenic dyskinesia 1|paroxysmal kinesigenic dyskinesia|dystonia, familial paroxysmal|paroxysmal kinesigenic choreoathetosis|DYT-PRRT2|dystonia 10|episodic kinesigenic dyskinesia caused by mutation in PRRT2|familial PKD|episodic kinesigenic dyskinesia 1; EKD1|PxMD-PRRT2|familial paroxysmal kinesigenic dyskinesia|EKD1 ordo_disease GO:0042110 T cell activation biolink:OntologyClass mondo The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/GO_0042110 T-lymphocyte activation|T lymphocyte activation|T-cell activation MONDO:0020450 azygos continuation of the inferior vena cava biolink:Disease mondo Orphanet:99121|ICD10:Q26.8 ORPHA:99121 http://purl.obolibrary.org/obo/MONDO_0020450 azygos continuation of the IVC|azygos continuation of the inferior caval vein ordo_morphological_anomaly MONDO:0007495 dystonia 5 biolink:Disease mondo SCTID:715768000|OMIM:128230|DOID:0090043|Orphanet:98808|UMLS:CN207122|GARD:0012144|ICD10:G24.1 Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. SNOMEDCT:715768000|UMLS:CN207122|ORPHA:98808|DOID:0090043|http://identifiers.org/omim/128230 http://purl.obolibrary.org/obo/MONDO_0007495 dystonia 5|autosomal dominant dopa-responsive dystonia|autosomal dominant Segawa syndrome|Dopa-responsive dystonia; Segawa syndrome AD|Segawa syndrome, autosomal dominant|GTPCH1-deficient dopa-responsive dystonia|DYT5a|HPD with marked diurnal fluctuation|dystonia, DOPA-responsive|Dopa-responsive dystonia, autosomal dominant|DYT-GCH1|dystonia, progressive, with diurnal variation|dystonia, DOPA-responsive; DRD|hereditary progressive dystonia with marked diurnal fluctuation|dystonia-Parkinsonism with diurnal fluctuation|DRD|dystonia, Dopa-responsive, autosomal dominant|dystonia type 5|GTPCH1-deficient DRD|GTP cyclohydrolase 1-deficient dopa-responsive dystonia ordo_disease MONDO:0007492 early-onset generalized limb-onset dystonia biolink:Disease mondo UMLS:C0013423|UMLS:C3888090|OMIM:128100|ICD10:G24.1|DOID:0060730|GARD:0002027|Orphanet:256|MESH:C538005 Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. UMLS:C0013423|ORPHA:256|http://identifiers.org/omim/128100|DOID:0060730|UMLS:C3888090|MESH:C538005 http://purl.obolibrary.org/obo/MONDO_0007492 Early-onset torsion dystonia|early-onset primary dystonia|dystonia 1, torsion, autosomal dominant; DYT1|early onset torsion dystonia|idiopathic torsion dystonia|early-onset torsion dystonia|Oppenheim's dystonia|early-onset generalized torsion dystonia|torsion dystonia type 1|Oppenheim dystonia|idiopathic dystonia|dystonia musculorum deformans|dystonia 1, torsion, autosomal dominant|Dyt1|Early-onset Primary dystonia|idiopathic dystonia DYT1|dystonia 1, torsion, Autosomal dominant|DYT-TOR1A|dystonia musculorum deformans 1|DYT-TOR1A dystonia|Early-onset Generalized torsion dystonia|DYT1|EOTD|Primary torsion dystonia|early-onset torsion dystonia|torsion dystonia 1|early-onset generalized limb-onset dystonia|Early onset torsion dystonia|Oppenheim dystonia|dystonia 1|torsion dystonia 1, autosomal dominant gard_rare|ordo_disease MONDO:0007493 torsion dystonia 4 biolink:Disease mondo SCTID:719276005|OMIM:128101|GARD:0010138|UMLS:C1851943|UMLS:C1860315|DOID:0090041|ICD10:G24.1|Orphanet:98805 DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). UMLS:C1851943|SNOMEDCT:719276005|UMLS:C1860315|ORPHA:98805|DOID:0090041|http://identifiers.org/omim/128101 http://purl.obolibrary.org/obo/MONDO_0007493 whispering dysphonia|whispering dysphonia, hereditary|dystonia 4, torsion, autosomal dominant; DYT4|dystonia 4, torsion, autosomal dominant|torsion dystonia type 4|dystonia musculorum deformans 4|DYT4|hereditary whispering dysphonia|autosomal dominant torsion dystonia-4|primary dystonia, DYT4 type ordo_disease MONDO:0007490 carpotarsal osteochondromatosis biolink:Disease mondo ICD10:D16.9|GARD:0001128|SCTID:389272007|Orphanet:2767|MESH:C565076|OMIM:127820|UMLS:C1300233 Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. SNOMEDCT:389272007|ORPHA:2767|MESH:C565076|UMLS:C1300233|http://identifiers.org/omim/127820 http://purl.obolibrary.org/obo/MONDO_0007490 osteochondromatosis, dominant carpotarsal|Maroteaux Le Merrer Bensahel syndrome|dominant carpotarsal osteochondromatosis|dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas|Maroteaux-Le Merrer-Bensahel syndrome gard_rare|ordo_malformation_syndrome MONDO:0007491 dystelephalangy biolink:Disease mondo UMLS:C1851955|GARD:0010059|OMIM:128000|MESH:C538000 http://identifiers.org/omim/128000|MESH:C538000|UMLS:C1851955 http://purl.obolibrary.org/obo/MONDO_0007491 Kirner deformity|dystelephalangy|congenital bilateral metadiaphyseal acrodysplasia of the little finger gard_rare MONDO:0020449 persistent eustachian valve biolink:Disease mondo ICD10:Q26.8|Orphanet:99120 ORPHA:99120 http://purl.obolibrary.org/obo/MONDO_0020449 ordo_morphological_anomaly GO:0042116 macrophage activation biolink:OntologyClass mondo A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0042116 macrophage polarization MONDO:0020448 right inferior vena cava connecting to left-sided atrium biolink:Disease mondo ICD10:Q26.8|Orphanet:99119 ORPHA:99119 http://purl.obolibrary.org/obo/MONDO_0020448 right IVC connecting to left-sided atrium|right inferior caval vein connecting to left-sided atrium ordo_morphological_anomaly MONDO:0020447 coronary sinus atresia biolink:Disease mondo Orphanet:99118|ICD10:Q21.1 ORPHA:99118 http://purl.obolibrary.org/obo/MONDO_0020447 ordo_morphological_anomaly MONDO:0020446 coronary sinus stenosis biolink:Disease mondo Orphanet:99117|ICD10:Q21.1 ORPHA:99117 http://purl.obolibrary.org/obo/MONDO_0020446 ordo_morphological_anomaly MONDO:0019467 CD4+/CD56+ hematodermic neoplasm biolink:Disease mondo ONCOTREE:BPDCN|ICD9:202.80|ICDO:9727/3|UMLS:C1301363|ICD10:C86.4|Orphanet:86870|SCTID:445105005|GARD:0010556|NCIT:C7203|UMLS:CN206246 An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement. ORPHA:86870|UMLS:C1301363|NCIT:C7203|SNOMEDCT:445105005|UMLS:CN206246 http://purl.obolibrary.org/obo/MONDO_0019467 blastic plasmacytoid dendritic cell|blastic NK-cell lymphoma|blastic natural Killer leukemia/lymphoma|CD4+/CD56+ hematodermic neoplasm|lymphoblastoid variant of NK-cell lymphoma|blastic plasmacytoid dendritic cell neoplasm|agranular CD4+ natural Killer cell leukemia|monomorphic NK-cell lymphoma|agranular CD4+ CD56+ hematodermic neoplasm/tumor|primary cutaneous CD4+/CD56+ hematolymphoid neoplasm|early plasmacytoid Dendritic cell leukemia/lymphoma|blastic plasmacytoid Dendritic cell neoplasm|BPDCN ordo_disease|gard_rare MONDO:0019466 lymphomatoid granulomatosis biolink:Disease mondo SCTID:239940004|ICD10:C83.8|NCIT:C7930|Orphanet:86869|MedDRA:10025325|ONCOTREE:LYG|UMLS:C0024307|ICDO:9766/1|GARD:0006943|MESH:D008230 Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever. MEDDRA:10025325|SNOMEDCT:239940004|MESH:D008230|ORPHA:86869|UMLS:C0024307|NCIT:C7930 http://purl.obolibrary.org/obo/MONDO_0019466 LYG gard_rare|ordo_disease MONDO:0019469 T-cell large granular lymphocyte leukemia biolink:Disease mondo ONCOTREE:TLGL|ICD9:204.80|MedDRA:10065862|NCIT:C4664|UMLS:C1955861|UMLS:C1522378|GARD:0009812|ICDO:9768/1|ICDO:9831/3|DOID:0050751|SCTID:277569004|ICDO:9831/1|Orphanet:86872 T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage. UMLS:C1522378|NCIT:C4664|UMLS:C1955861|SNOMEDCT:277569004|MESH:D054066|MEDDRA:10065862|ORPHA:86872|DOID:0050751 http://purl.obolibrary.org/obo/MONDO_0019469 leukemia, large granular LYMPHOCYTIC, malignant|LGL leukemia|T gamma lymphoproliferative disorder|T-LGL|T-gamma lymphoproliferative disorder|T-cell large granular lymphocyte leukemia|T-cell LGL leukemia|large granular lymphocytosis|T-cell large gran. lymph. leuk.|large granular lymphocyte leukemia|TLGL|T-LGL leukemia|large granular lymphocytic leukemia|proliferation of large granular lymphocytes|large cell granular lymphoid leukemia|LGLL|T-cell large granular lymphocytic leukemia|large cell granular lymphogenous leukemia|Tgamma large granular lymphocyte leukemia ordo_disease MONDO:0019468 T-cell prolymphocytic leukemia biolink:Disease mondo Orphanet:86871|UMLS:C2363142|MedDRA:10042985|ONCOTREE:TPLL|NCIT:C4752|GARD:0008224|NCIT:C70649|ICDO:9834/3|ICD10:C91.6|MESH:D015461|UMLS:C0023494|SCTID:277545003|EFO:1000560|SCTID:277567002 A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line. NCIT:C4752|MESH:D015461|UMLS:C2363142|NCIT:C70649|MEDDRA:10042985|SNOMEDCT:277545003|ORPHA:86871|SNOMEDCT:277567002|UMLS:C0023494 http://purl.obolibrary.org/obo/MONDO_0019468 CLL, T-cell|T cell CLL|T-PLL|T prolymphocytic leukemia|T-cell CLL|leukemia, T-cell, chronic|chronic T-cell leukemia|T cell chronic lymphocytic leukemia|T cell prolymphocytic leukemia|chronic T-cell lymphocytic leukemia|T-cell prolymphocytic leukemia|TPLL|T-cell chronic lymphocytic leukemia ordo_disease MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease biolink:Disease mondo UMLS:CN206242|Orphanet:86861|ICD10:D89.8 ORPHA:86861|UMLS:CN206242 http://purl.obolibrary.org/obo/MONDO_0019463 Randall disease|non-amyloid MIDD ordo_disease GO:0030141 secretory granule biolink:OntologyClass mondo A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. http://purl.obolibrary.org/obo/GO_0030141 secretory vesicle MONDO:0019462 splenic marginal zone lymphoma biolink:Disease mondo UMLS:C0349632|MedDRA:10062113|ONCOTREE:SMZL|NCIT:C4663|ICD10:C83.0|SCTID:763666008|ICDO:9689/3|Orphanet:86854|EFO:1000550|DOID:0050750 Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated. NCIT:C4663|ORPHA:86854|SNOMEDCT:763666008|DOID:0050750|MEDDRA:10062113|UMLS:C0349632 http://purl.obolibrary.org/obo/MONDO_0019462 splenic lymphoma with circulating villous lymphocytes|splenic marginal zone lymphoma|SLVL|splenic marginal zone B-cell lymphoma|splenic marginal zone B-cell lymphoma with villous lymphocytes|SMZL|marginal zone lymphoma of spleen|splenic marginal zone lymphoma with villous lymphocytes|marginal zone lymphoma of the spleen ordo_disease MONDO:0019465 nodal marginal zone B-cell lymphoma biolink:Disease mondo MedDRA:10029460|NCIT:C8863|SCTID:277623009|Orphanet:86867|ICD10:C83.0|DOID:0080211|ONCOTREE:NMZL|UMLS:C0855139 Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported. SNOMEDCT:277623009|DOID:0080211|UMLS:C0855139|ORPHA:86867|NCIT:C8863|MEDDRA:10029460 http://purl.obolibrary.org/obo/MONDO_0019465 Monocytoid B-cell lymphoma|nodal marginal zone lymphoma|nodal marginal zone B-cell lymph.|NMZL|nodal marginal zone B-cell lymphoma ordo_disease MONDO:0019464 heavy chain disease biolink:Disease mondo SCTID:68979007|MedDRA:10019350|ICDO:9762/3|ICD10:C88.3|ICD9:273.2|MESH:D006362|DOID:0060125|ICD10:C88.2|UMLS:C0018852|Orphanet:86864|EFO:1001341|NCIT:C3082 Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains. UMLS:C0018852|NCIT:C3082|SNOMEDCT:68979007|MEDDRA:10019350|ORPHA:86864|DOID:0060125|MESH:D006362 http://purl.obolibrary.org/obo/MONDO_0019464 HCD|heavy chain disease ordo_disease MONDO:0007508 Rapp-Hodgkin syndrome biolink:Disease mondo OMIM:129400|MESH:C535289|DOID:0060330|Orphanet:3022|SCTID:7731005|GARD:0005690|UMLS:CN203427 A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. DOID:0060330|http://identifiers.org/omim/129400|ORPHA:3022|UMLS:CN203427|SNOMEDCT:7731005|MESH:C535289 http://purl.obolibrary.org/obo/MONDO_0007508 cleft lip with or without cleft palate, nonsyndromic, 8|anhidrotic ectodermal dysplasia with cleft lip/palate|RHS|Rapp-Hodgkin ectodermal dysplasia syndrome|Rapp-Hodgkin syndrome; RHS|OFC8, included|ectodermal dysplasia, anhidrotic, with cleft Lip/palate|ectodermal dysplasia, anhidrotic, with cleft lip-palate|orofacial cleft 8|Rapp-Hodgkin syndrome gard_rare|speculative MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant biolink:Disease mondo GARD:0002048|UMLS:C3888065|OMIM:129490 http://identifiers.org/omim/129490|UMLS:C3888065 http://purl.obolibrary.org/obo/MONDO_0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; ECTD10A|ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|hypohidrotic ectodermal dysplasia autosomal dominant|ectodermal dysplasia hypohidrotic autosomal dominant|ECTD10A|ectodermal dysplasia, hypohidrotic, autosomal dominant MONDO:0007506 obsoleted echo virus 11 sensitivity biolink:Disease mondo MESH:C565071|UMLS:C1851888|OMIM:129150 http://identifiers.org/omim/129150|UMLS:C1851888|MESH:C565071 http://purl.obolibrary.org/obo/MONDO_0007506 echo virus 11 sensitivity; E11S|echo virus 11 sensitivity|E11S MONDO:0007507 absence of fingerprints-congenital milia syndrome biolink:Disease mondo SCTID:239011004|Orphanet:1658|OMIM:129200|ICD10:Q82.8|MESH:C537659|GARD:0002336 Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. http://identifiers.org/omim/129200|SNOMEDCT:239011004|MESH:C537659|ORPHA:1658 http://purl.obolibrary.org/obo/MONDO_0007507 absence of dermatoglyphics congenital milia|Basan syndrome|Baird syndrome|absence of dermatoglyphics-congenital milia syndrome|ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease|absence of fingerprints congenital milia|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities gard_rare|ordo_disease MONDO:0007504 thickened earlobes-conductive deafness syndrome biolink:Disease mondo GARD:0002195|SCTID:722476007|Orphanet:2405|OMIM:128980|ICD10:H90.0 Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. SNOMEDCT:722476007|http://identifiers.org/omim/128980|ORPHA:2405 http://purl.obolibrary.org/obo/MONDO_0007504 Escher-Hirt syndrome|earlobes, thickened, with conductive deafness from incudostapedial abnormalities|Escher Hirt syndrome ordo_malformation_syndrome MONDO:0007505 earring holes, natural biolink:Disease mondo OMIM:129000 http://identifiers.org/omim/129000 http://purl.obolibrary.org/obo/MONDO_0007505 earring holes, natural|earlobe sinuses MONDO:0007502 ear pits, posterior helical biolink:Disease mondo OMIM:128710 http://identifiers.org/omim/128710 http://purl.obolibrary.org/obo/MONDO_0007502 ear pits, posterior helical|posterior helical Ear pits|earlobe Indentations, posterior HGNC:2548 CUBN biolink:OntologyClass mondo http://identifiers.org/hgnc/2548 MONDO:0007503 ear without helix biolink:Disease mondo OMIM:128800 http://identifiers.org/omim/128800 http://purl.obolibrary.org/obo/MONDO_0007503 ear without helix MONDO:0007500 ear malformation biolink:Disease mondo ICD9:744.29|ICD9:744.3|OMIM:128600|SCTID:275259005 http://identifiers.org/omim/128600|SNOMEDCT:275259005 http://purl.obolibrary.org/obo/MONDO_0007500 ear malformation|cup Ear MONDO:0007501 preauricular fistulae, congenital biolink:Disease mondo MESH:C563015|OMIM:128700 http://identifiers.org/omim/128700|MESH:C563015 http://purl.obolibrary.org/obo/MONDO_0007501 Ear pits|preauricular fistulae, congenital|Pafc FOODON:03460180 obsolete: food added biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=H0180 http://purl.obolibrary.org/obo/FOODON_03460180 UBERON:0004385 epiphysis of radius biolink:AnatomicalEntity mondo An epiphysis that is part of a radius [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004385 radial epiphysis UBERON:0004386 epiphysis of ulna biolink:AnatomicalEntity mondo An epiphysis that is part of an ulna [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004386 ulnar epiphysis UBERON:0004383 epiphysis of tibia biolink:AnatomicalEntity mondo An epiphysis that is part of a tibia [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004383 tibial epiphysis UBERON:0004384 epiphysis of femur biolink:AnatomicalEntity mondo An epiphysis that is part of a femur [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004384 femoral epiphysis UBERON:0004381 skeleton of limb biolink:AnatomicalEntity mondo The collection of all skeletal elements in an individual limb. http://purl.obolibrary.org/obo/UBERON_0004381 set of bones of limb|limb skeleton|free limb skeleton UBERON:0004382 epiphysis of humerus biolink:AnatomicalEntity mondo An epiphysis that is part of a humerus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004382 humeral epiphysis UBERON:0004380 proximal epiphysis biolink:AnatomicalEntity mondo An epiphysis that is on the proximal side of the bone. http://purl.obolibrary.org/obo/UBERON_0004380 proximal end of long bone HGNC:2555 CUL4B biolink:OntologyClass mondo http://identifiers.org/hgnc/2555 HP:0004431 Complement deficiency biolink:PhenotypicFeature mondo UMLS:C0272242|SNOMEDCT_US:24743004 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. http://purl.obolibrary.org/obo/HP_0004431 UBERON:0004389 epiphysis of metatarsal bone biolink:AnatomicalEntity mondo An epiphysis that is part of a metatarsal bone [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004389 metatarsal epiphysis|epiphysis of metatarsal|metatarsal bone epiphysis HGNC:2553 CUL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2553 HP:0004430 Severe combined immunodeficiency biolink:PhenotypicFeature mondo SNOMEDCT_US:31323000|MSH:D016511|UMLS:C0085110 A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. http://purl.obolibrary.org/obo/HP_0004430 Immunodeficiency, severe combined UBERON:0004387 epiphysis of phalanx of manus biolink:AnatomicalEntity mondo An epiphysis that is part of a phalanx of a manus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004387 epiphysis of phalanx of hand|epiphysis of phalanx of finger UBERON:0004388 epiphysis of fibula biolink:AnatomicalEntity mondo An epiphysis that is part of a fibula [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004388 fibula epiphysis MONDO:0007519 Edinburgh malformation syndrome biolink:Disease mondo MESH:C563051|GARD:0002074|UMLS:C0795933|ICD10:Q95.2|OMIM:129850|Orphanet:1895 Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. http://identifiers.org/omim/129850|UMLS:C0795933|ORPHA:1895|MESH:C563051 http://purl.obolibrary.org/obo/MONDO_0007519 Edinburgh malformation syndrome|typus Edinburgensis ordo_malformation_syndrome|gard_rare MONDO:0007517 ectrodactyly-cleft palate syndrome biolink:Disease mondo MESH:C565064|UMLS:CN229012|UMLS:C1851848|Orphanet:1889|OMIM:129830 UMLS:CN229012|http://identifiers.org/omim/129830|UMLS:C1851848|MESH:C565064|ORPHA:1889 http://purl.obolibrary.org/obo/MONDO_0007517 ectrodactyly-cleft palate syndrome|Ecp syndrome MONDO:0007518 edema, familial idiopathic, prepubertal biolink:Disease mondo MESH:C565063|UMLS:C1851847|OMIM:129840 http://identifiers.org/omim/129840|UMLS:C1851847|MESH:C565063 http://purl.obolibrary.org/obo/MONDO_0007518 edema, familial idiopathic, prepubertal MONDO:0007515 ectopia pupillae (disease) biolink:Disease mondo MESH:C536185|HP:0009918|GARD:0008490|SCTID:193523008|OMIM:129750 http://identifiers.org/omim/129750|MESH:C536185|SNOMEDCT:193523008 http://purl.obolibrary.org/obo/MONDO_0007515 familial ectopic pupil|ectopia pupillae|congenital eye malformation in which the pupils are displaced from their normal central position MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate biolink:Disease mondo OMIM:129810|UMLS:C1851849|Orphanet:1888|MESH:C565065 http://identifiers.org/omim/129810|UMLS:C1851849|MESH:C565065|ORPHA:1888 http://purl.obolibrary.org/obo/MONDO_0007516 EEC syndrome without cleft Lip/palate|ectrodactyly-ectodermal dysplasia without clefting syndrome|ectrodactyly and ectodermal dysplasia without cleft lip/palate MONDO:0007513 ectodermal dysplasia with adrenal cyst biolink:Disease mondo Orphanet:3391|UMLS:C1851850|OMIM:129550|MESH:C538015 http://identifiers.org/omim/129550|ORPHA:3391|UMLS:C1851850|MESH:C538015 http://purl.obolibrary.org/obo/MONDO_0007513 ectodermal dysplasia with adrenal cyst|Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant biolink:Disease mondo UMLS:C3541518|OMIM:129600|url:https://www.ncbi.nlm.nih.gov/pubmed/15054843|DOID:0111150 Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene. http://identifiers.org/omim/129600|DOID:0111150|UMLS:C3541518 http://purl.obolibrary.org/obo/MONDO_0007514 ectopia lentis 1, isolated, autosomal dominant; ECTOL1|ECTOL1|ectopia lentis 1, isolated, autosomal dominant|isolated ectopia lentis caused by mutation in FBN1|FBN1 isolated ectopia lentis|autosomal dominant isolated ectopia lentis 1 HGNC:2558 CX3CR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2558 MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type biolink:Disease mondo ICD10:Q82.4|Orphanet:1818|SCTID:734018003|OMIM:129510|MESH:C565068|UMLS:C1851858|GARD:0002055 Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. UMLS:C1851858|MESH:C565068|ORPHA:1818|SNOMEDCT:734018003|http://identifiers.org/omim/129510 http://purl.obolibrary.org/obo/MONDO_0007511 ectodermal dysplasia trichoodontoonychial type|ectodermal dysplasia, trichoodontoonychial type gard_rare|ordo_malformation_syndrome MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet biolink:Disease mondo UMLS:C1851851|MESH:C565067|OMIM:129540 UMLS:C1851851|MESH:C565067|http://identifiers.org/omim/129540 http://purl.obolibrary.org/obo/MONDO_0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet MONDO:0007510 Clouston syndrome biolink:Disease mondo GARD:0004253|Orphanet:189|DOID:14693|GARD:0002056|ICD10:Q82.8|OMIM:129500|SCTID:54209007 Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. ORPHA:189|UMLS:C0162361|DOID:14693|SNOMEDCT:54209007|http://identifiers.org/omim/129500 http://purl.obolibrary.org/obo/MONDO_0007510 autosomal dominant hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|hidrotic ectodermal dysplasia syndrome|Clouston syndrome|Clouston's syndrome|ectodermal dysplasia, hidrotic, 2, formerly|Patel Bixler syndrome|ectodermal dysplasia, hidrotic|ectodermal dysplasia, hidrotic, 2|hidrotic ectodermal dysplasia|alopecia, dysplastic nails, palmar and plantar hyperkeratosis|Clouston hidrotic ectodermal dysplasia|palmoplantar hyperkeratosis and alopecia|Clouston's hidrotic ectodermal dysplasia|ectodermal dysplasia 2, Clouston type|hidrotic ectodermal dysplasia, autosomal dominant|ED2 do_inheritance_inconsistent|gard_rare|ordo_disease NCBITaxon:42113 Clitellata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42113 UBERON:0004374 vitelline vasculature biolink:AnatomicalEntity mondo vascular network that is connected to the yolk sac. http://purl.obolibrary.org/obo/UBERON_0004374 omphalomesenteric system|vitelline system|vitelline bloos vessel system UBERON:0004375 bone of free limb or fin biolink:AnatomicalEntity mondo A bone that is part of an appendage [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004375 bone of appendage|appendage bone|bone of free segment of appendicular skeleton HP:0004444 Spherocytosis biolink:PhenotypicFeature mondo UMLS:C0553720|SNOMEDCT_US:17235000 The presence of erythrocytes that are sphere-shaped. http://purl.obolibrary.org/obo/HP_0004444 UBERON:0004370 anterior limiting lamina of cornea biolink:AnatomicalEntity mondo A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. http://purl.obolibrary.org/obo/UBERON_0004370 anterior elastic lamina|Bowman's membrane|Reichert's membrane|anterior limiting lamina|Bowman's anterior elastic lamina|anterior limiting lamina of cornea|lamina limitans anterior corneae|anterior limiting membrane|Bowman's layer|lamina limitans anterior (cornea) CHEBI:35942 neurotransmitter agent biolink:ChemicalSubstance mondo A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function. http://purl.obolibrary.org/obo/CHEBI_35942 neurotransmitter agents CHEBI:60911 racemate biolink:ChemicalSubstance mondo A racemate is an equimolar mixture of a pair of enantiomers. http://purl.obolibrary.org/obo/CHEBI_60911 racemates|racemic mixture|melange racemique HP:0004447 Poikilocytosis biolink:PhenotypicFeature mondo SNOMEDCT_US:165479004|UMLS:C0221281 The presence of abnormally shaped erythrocytes. http://purl.obolibrary.org/obo/HP_0004447 HGNC:2568 MAMLD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2568 HGNC:2567 OFD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2567 UBERON:0004378 proximal metaphysis biolink:AnatomicalEntity mondo A metaphysis that is in the proximal side of a diaphysis. http://purl.obolibrary.org/obo/UBERON_0004378 proximal diaphyseal end of long bone UBERON:0004379 distal epiphysis biolink:AnatomicalEntity mondo An epiphysis that is on the distal side of the bone. http://purl.obolibrary.org/obo/UBERON_0004379 distal end of long bone UBERON:0004376 fin bone biolink:AnatomicalEntity mondo A bone that is part of a fin [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004376 bone of fin HGNC:2561 CXCR4 biolink:OntologyClass mondo http://identifiers.org/hgnc/2561 UBERON:0004377 distal metaphysis biolink:AnatomicalEntity mondo A metaphysis that is in the distal side of a diaphysis. http://purl.obolibrary.org/obo/UBERON_0004377 distal diaphyseal end of long bone NCBITaxon:137207 Oligoryzomys longicaudatus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_137207 Oligoryzomys longicaudus UBERON:0004363 pharyngeal arch artery biolink:AnatomicalEntity mondo One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP] http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery|aortic arches|aortic arch artery|branchial aortic arches|pharyngeal arch artery|branchial arch artery|a. arcuum pharyngeorum|arteriae arcuum pharyngeorum|pharyngeal arch arteries|embryonic aortic arch artery|PAA|aortic arch|branchial aortic arches HGNC:2570 CYB5A biolink:OntologyClass mondo http://identifiers.org/hgnc/2570 UBERON:0004362 pharyngeal arch 1 biolink:AnatomicalEntity mondo The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries http://purl.obolibrary.org/obo/UBERON_0004362 1st visceral arch|branchial arch 1|arcus pharyngeus primus|first branchial arch|1st pharyngeal arch|first pharyngeal arch|1st arch|visceral arch 1|first visceral arch|mandibular arch HGNC:2579 CYC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2579 HGNC:2578 CYBB biolink:OntologyClass mondo http://identifiers.org/hgnc/2578 HGNC:2577 CYBA biolink:OntologyClass mondo http://identifiers.org/hgnc/2577 UBERON:0004367 Descemet's membrane biolink:AnatomicalEntity mondo A transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea[MP]. http://purl.obolibrary.org/obo/UBERON_0004367 Descemet's posterior elastic lamina|posterior limiting lamina|Descemet membrane|posterior limiting membrane|posterior limiting lamina of cornea|lamina limitans posterior corneae|lamina limitans posterior UBERON:0004365 vitelline blood vessel biolink:AnatomicalEntity mondo blood vessel that is connected to the yolk sac. http://purl.obolibrary.org/obo/UBERON_0004365 CHEBI:47909 3-oxo-Delta(4) steroid biolink:ChemicalSubstance mondo A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position. http://purl.obolibrary.org/obo/CHEBI_47909 3-Oxo-delta4-steroid|3-oxo Delta(4)-steroids|3-oxo Delta(4)-steroid|a 3-oxo-Delta(4)-steroid|3-oxo-Delta(4) steroids FOODON:03460177 plant seed or nut food product biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=H0177 http://purl.obolibrary.org/obo/FOODON_03460177 NCBITaxon:29120 Oligoryzomys organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29120 NCBITaxon:29122 Oryzomys organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29122 UBERON:0004356 apical ectodermal ridge biolink:AnatomicalEntity mondo multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. http://purl.obolibrary.org/obo/UBERON_0004356 AER|crista ectodermalis apicalis|apical epidermal ridge UBERON:0004357 paired limb/fin bud biolink:AnatomicalEntity mondo An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/UBERON_0004357 limb - fin bud|paired limb/fin bud|paired appendage bud HGNC:2584 CYLD biolink:OntologyClass mondo http://identifiers.org/hgnc/2584 MONDO:0007548 transient bullous dermolysis of the newborn biolink:Disease mondo UMLS:C1851573|Orphanet:79411|OMIM:131705|GARD:0010010|MESH:C536979|ICD10:Q81.2 Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. http://identifiers.org/omim/131705|MESH:C536979|ORPHA:79411|UMLS:C1851573 http://purl.obolibrary.org/obo/MONDO_0007548 epidermolysis bullosa dystrophica, neonatal form|DEB-BDN|epidermolysis bullosa dystrophica, dominant neonatal form|transient bullous dermolysis of the newborn|TBDN|transient bullous dermolysis of the newborn; TBDN|MONDON|transient bullous dermolysis of the newborn; MONDON|DEB, bullous dermolysis of the newborn|dystrophic epidermolysis bullosa, neonatal gard_rare|ordo_disease MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa biolink:Disease mondo DOID:0080224|ICD9:757.39|SCTID:75875004|OMIM:131750|GARD:0002139|ICD10:Q81.2|Orphanet:231568 Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. http://identifiers.org/omim/131750|ORPHA:231568|DOID:0080224|SNOMEDCT:75875004 http://purl.obolibrary.org/obo/MONDO_0007549 epidermolysis bullosa dystrophica, Pasini type (formerly)|autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types|epidermolysis bullosa dystrophica, Pasini type|epidermolysis bullosa dystrophica, autosomal dominant|dystrophic epidermolysis bullosa, autosomal dominant|dominant dystrophic epidermolysis bullosa, generalized|epidermolysis bullosa dystrophica, Cockayne-Touraine type|dominant dystrophic epidermolysis bullosa|DDEB, generalized|epidermolysis bullosa dystrophica with subcorneal Cleavage|DDEB, Pasini and Cockayne-Touraine types|epidermolysis bullosa dystrophica, autosomal dominant; DDEB|autosomal dominant dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)|DDEB|Albopapuloid dominant dystrophic epidermolysis bullosa|DDEB-gen ordo_disease MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia biolink:Disease mondo UMLS:C1851585|OMIM:131440|MESH:C565054 MESH:C565054|UMLS:C1851585|http://identifiers.org/omim/131440 http://purl.obolibrary.org/obo/MONDO_0007546 myeloproliferative disorder, chronic, with eosinophilia|MPE|eosinophils, malignant proliferation of MONDO:0007547 epidermoid cysts biolink:Disease mondo NCIT:C3134|EFO:1000243|SCTID:419893006|OMIM:131600 The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule. http://identifiers.org/omim/131600|SNOMEDCT:419893006|NCIT:C3134 http://purl.obolibrary.org/obo/MONDO_0007547 inclusion cyst|keratinous cyst|Follicular infundibular cyst|keratin cyst|epidermoid cyst|epidermal inclusion cyst|keratinizing cyst|epidermoid cysts|horn cyst|Epidermal cyst|squamous cyst|epithelial cyst|infundibular cyst MONDO:0020522 Ehlers-Danlos syndrome type 7B biolink:Disease mondo ICD10:Q79.6|UMLS:CN706304|GTR:AN1112967|GTR:AN1112966|MESH:C565061|GTR:AN1112503|GTR:AN1112965|UMLS:C1851801|Orphanet:99876 UMLS:CN706304|UMLS:C1851801|ORPHA:99876|MESH:C565061 http://purl.obolibrary.org/obo/MONDO_0020522 Ehlers-Danlos syndrome, type VIIB, autosomal dominant|EDS VIIB|EDSARTH2|EDS VIIB|Ehlers-Danlos syndrome, arthrochalasia type, 2 ordo_etiological_subtype MONDO:0007544 eosinophilia, familial biolink:Disease mondo GARD:0010521|SCTID:79336007|OMIM:131400|MESH:C562722 Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors. SNOMEDCT:79336007|MESH:C562722|http://identifiers.org/omim/131400 http://purl.obolibrary.org/obo/MONDO_0007544 eosinophilia, familial|familial eosinophilia|Eos gard_rare MONDO:0020521 Ehlers-Danlos syndrome type 7A biolink:Disease mondo Orphanet:99875|UMLS:CN207418|ICD10:Q79.6 ORPHA:99875|UMLS:CN207418 http://purl.obolibrary.org/obo/MONDO_0020521 EDS VIIA ordo_etiological_subtype MONDO:0007545 Eosinophilopenia biolink:Disease mondo OMIM:131430|UMLS:C1851586 UMLS:C1851586|http://identifiers.org/omim/131430 http://purl.obolibrary.org/obo/MONDO_0007545 Eosinophilopenia|eosinophil aplasia FOODON:03460141 food modification process biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03460141 MONDO:0020520 adult pulmonary Langerhans cell histiocytosis biolink:Disease mondo NCIT:C142833|Orphanet:99874|UMLS:C1455705|ICD10:C96.5|SCTID:328611000119105|UMLS:C3161104|ICD10:J84.82 Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions. UMLS:C3161104|SNOMEDCT:328611000119105|NCIT:C142833|UMLS:C1455705|ORPHA:99874 http://purl.obolibrary.org/obo/MONDO_0020520 PLCH|pulmonary histiocytosis X|pulmonary eosinophilic granuloma|pulmonary Langerhans cell histiocytosis ordo_disease MONDO:0007542 Camurati-Engelmann disease biolink:Disease mondo GARD:0001072|DOID:4997|NCIT:C84610|OMIM:131300|ICD9:756.59|ICD10:Q78.3|SCTID:318761000119105|Orphanet:1328|UMLS:C0011989 Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. ORPHA:1328|DOID:4997|SNOMEDCT:318761000119105|UMLS:C0011989|NCIT:C84610|http://identifiers.org/omim/131300|MESH:D003966 http://purl.obolibrary.org/obo/MONDO_0007542 CED|Camurati-Engelmann disease|diaphyseal dysplasia|diaphyseal dysplasia 1, progressive|progressive diaphyseal dysplasia|Camurati-Engelmann syndrome|CAEND|DPD1|Engelman's disease|Camurati-Engelmann disease; CAEND|Engelmann disease|Camurati-Englemann disease ordo_malformation_syndrome MONDO:0007543 enolase, sperm specific biolink:Disease mondo OMIM:131375 http://identifiers.org/omim/131375 http://purl.obolibrary.org/obo/MONDO_0007543 enolase, sperm specific|ENO4|enolase, sperm specific; ENO4 MONDO:0007540 multiple endocrine neoplasia type 1 biolink:Disease mondo MESH:D018761|DOID:10017|UMLS:C0025267|ICD9:237.4|ICD10:E31.21|NCIT:C3225|GARD:0003829|ICD9:258.01|COHD:28127|SCTID:30664006|OMIM:131100|ICD10:D44.8|MedDRA:10028190|Orphanet:652 Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. UMLS:C0025267|ORPHA:652|MEDDRA:10028190|MESH:D018761|DOID:10017|SNOMEDCT:30664006|NCIT:C3225|http://identifiers.org/omim/131100 http://purl.obolibrary.org/obo/MONDO_0007540 endocrine adenomatosis multiple|MEA type I|men type I|multiple endocrine neoplasia type I|men 1|MEA 1|MEN1 syndrome|multiple endocrine neoplasia, type 1|MEN1 multiple endocrine neoplasia|men type 1|multiple endocrine adenomatosis, type I|multiple endocrine adenomatosis type I|Wermer syndrome|multiple endocrine neoplasia, type I|Wermer's syndrome|MEA type 1|multiple endocrine neoplasia caused by mutation in MEN1|multiple endocrine neoplasia type 1 syndrome|MEN1|MEN1 somatic mutations|MEN1|endocrine adenomatosis, multiple|multiple endocrine adenomatosis|multiple endocrine neoplasia, type I; MEN1|multiple endocrine adenomatosis type 1|multiple endocrine neoplasia type 1 ordo_disease|gard_rare MONDO:0007541 endometriosis, susceptibility to, 1 biolink:Disease mondo OMIM:131200 http://identifiers.org/omim/131200 http://purl.obolibrary.org/obo/MONDO_0007541 ENDO1|endometriosis, susceptibility to, type 1|endometriosis, susceptibility to, 1 predisposition MONDO:0020519 hand-Schuller-Christian disease biolink:Disease mondo ICD9:277.89|UMLS:CN207416|ICDO:9753/1|Orphanet:99873|SCTID:39795003|ICD10:C96.5|NCIT:C6920 A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. ORPHA:99873|UMLS:CN207416|SNOMEDCT:39795003|NCIT:C6920 http://purl.obolibrary.org/obo/MONDO_0020519 multifocal Unisystem Langerhans cell histiocytosis|classic multifocal Langerhans cell histiocytosis|hand-SChüller-Christian disease|multifocal eosinophilic granuloma|hand-Schuller-Christian disease|chronic multifocal Langerhans cell histiocytosis|hand-SChüller-Christian disease ordo_disease HGNC:2593 CYP17A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2593 MONDO:0020518 Hashimoto-Pritzker syndrome biolink:Disease mondo UMLS:C1275336|Orphanet:99872|ICD10:C96.5|GARD:0002604|ICD9:277.89|SCTID:404160007|MESH:C535843 Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules). ORPHA:99872|MESH:C535843|UMLS:C1275336|SNOMEDCT:404160007 http://purl.obolibrary.org/obo/MONDO_0020518 Hashimoto-Pritzker disease|Hashimoto-Pritzker histiocytosis|congenital Langerhans cell histiocytosis gard_rare|ordo_disease HGNC:2592 CYP11B2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2592 HGNC:2591 CYP11B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2591 MONDO:0020517 eosinophilic granuloma biolink:Disease mondo MESH:D004803|COHD:4044708|ICD10:C96.6|SCTID:129000002|Orphanet:99871|ICDO:9752/1|MedDRA:10014956|NCIT:C3016|UMLS:C0014461|ICD9:277.89 A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. ORPHA:99871|SNOMEDCT:129000002|NCIT:C3016|MESH:D004803|MEDDRA:10014956|UMLS:C0014461 http://purl.obolibrary.org/obo/MONDO_0020517 eosinophilic granuloma|unifocal Langerhans cell histiocytosis|eosinophilic xanthomatous granuloma|chronic and localized Langerhans cell histiocytosis|Monostotic Langerhans cell histiocytosis|chronic unifocal Langerhans cell histiocytosis ordo_disease HGNC:2590 CYP11A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2590 MONDO:0020516 thymic neuroendocrine carcinoma biolink:Disease mondo UMLS:CN207412|UMLS:C2210965|SCTID:716653001|ICD10:C37|Orphanet:99869 Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation. ORPHA:99869|UMLS:CN207412|UMLS:C2210965|SNOMEDCT:716653001 http://purl.obolibrary.org/obo/MONDO_0020516 neuroendocrine carcinoma of thymus|thymic neuroendocrine carcinoma|thymus neuroendocrine carcinoma ordo_disease MONDO:0019537 hemoglobin D disease biolink:Disease mondo NCIT:C35344|ICD9:282.7|SCTID:66729008|DOID:5378|MedDRA:10055019|UMLS:C0272080|ICD10:D58.2|Orphanet:90039 Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). ORPHA:90039|NCIT:C35344|DOID:5378|SNOMEDCT:66729008|MEDDRA:10055019|UMLS:C0272080 http://purl.obolibrary.org/obo/MONDO_0019537 hemoglobin D disease|Hb-D disease ordo_disease MONDO:0020515 obsolete thymic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020515 MONDO:0019536 typical hemolytic-uremic syndrome biolink:Disease mondo ICD10:D59.3|UMLS:CN206363|GARD:0006241|Orphanet:90038 Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. ORPHA:90038|UMLS:CN206363 http://purl.obolibrary.org/obo/MONDO_0019536 hemolytic-uremic syndrome with diarrhea|Sxt-HUS|typical HUS|D-plus hemolytic uremic syndrome (D+HUS)|Shiga-like toxin-associated HUS|D+HUS ordo_disease|gard_rare MONDO:0020514 obsolete thymoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020514 MONDO:0020513 spermatocytic seminoma biolink:Disease mondo Orphanet:99865|NCIT:C39921|UMLS:C0334517|DOID:7891|ICDO:9063/3|ICD10:C62.9|DOID:5834 A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males. DOID:5834|NCIT:C39921|UMLS:C0334517|DOID:7891|ORPHA:99865 http://purl.obolibrary.org/obo/MONDO_0020513 testicular spermatocytic seminoma|spermatocytic seminoma|spermatocytoma ordo_disease MONDO:0019539 obsolete retinopathy of prematurity biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019539 MONDO:0020512 precursor T-cell acute lymphoblastic leukemia biolink:Disease mondo ICD10:C91.0|Orphanet:99861 ORPHA:99861 http://purl.obolibrary.org/obo/MONDO_0020512 precursor T-cell acute lymphoblastic leukemia/lymphoma|T-ALL|precursor T-cell acute lymphocytic leukemia|precursor T-cell acute lymphocytic leukemia/lymphoma ordo_disease MONDO:0019538 Gaisbock syndrome biolink:Disease mondo SCTID:36874002|UMLS:C0541719|Orphanet:90041|UMLS:C2242785|MedDRA:10042217|GARD:0008402|UMLS:CN206365|NCIT:C27174|DOID:2838|MedDRA:10053885|ICD10:D75.1 Polycythemia that is caused by stress. ORPHA:90041|MEDDRA:10053885|UMLS:C2242785|SNOMEDCT:36874002|UMLS:C0541719|NCIT:C27174|UMLS:CN206365|DOID:2838|MEDDRA:10042217 http://purl.obolibrary.org/obo/MONDO_0019538 Pseudopolycythemia|Gaisbock's syndrome|GaisböCK syndrome|stress erythrocytosis|Pseudopolycythaemia|stress polycythemia|polycythemia, emotional|Gaisboeck's syndrome ordo_disease MONDO:0019533 paroxysmal cold hemoglobinuria biolink:Disease mondo Orphanet:90035|ICD10:D59.6|GARD:0007335|SCTID:127057004 Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. MESH:C538618|SNOMEDCT:127057004|UMLS:C0272129|ORPHA:90035 http://purl.obolibrary.org/obo/MONDO_0019533 hemoglobinuria paroxysmal cold|Donath-Landsteiner syndrome|PCH|Donath-Landsteiner hemolytic anemia ordo_disease MONDO:0019532 autoimmune hemolytic anemia, warm type biolink:Disease mondo GARD:0007876|Orphanet:90033|UMLS:C0272118|ICD10:D59.1|SCTID:3978000|MedDRA:10047822 Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C). SNOMEDCT:3978000|MEDDRA:10047822|UMLS:C0272118|ORPHA:90033 http://purl.obolibrary.org/obo/MONDO_0019532 warm-reacting-antibody hemolytic anemia|wAHA|warm antibody AIHA|warm AIHA|warm antibody hemolytic anemia|wAIHA|warm antibody autoimmune hemolytic anemia ordo_disease MONDO:0019535 drug-induced autoimmune hemolytic anemia biolink:Disease mondo Orphanet:90037|SCTID:309742004|ICD10:D59.0 Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms. ORPHA:90037|UMLS:C0391817|SNOMEDCT:309742004 http://purl.obolibrary.org/obo/MONDO_0019535 drug-induced AIHA ordo_disease MONDO:0019534 mixed-type autoimmune hemolytic anemia biolink:Disease mondo Orphanet:90036|UMLS:C4305257|SCTID:718716008|ICD10:D59.1 Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. ORPHA:90036|UMLS:C4305257|SNOMEDCT:718716008 http://purl.obolibrary.org/obo/MONDO_0019534 mixed AIHA ordo_disease HGNC:2597 CYP1B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2597 MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency biolink:Disease mondo Orphanet:90030|ICD10:D55.1|OMIM:618660 Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. http://identifiers.org/omim/618660|ORPHA:90030 http://purl.obolibrary.org/obo/MONDO_0019531 HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY ordo_disease MONDO:0019530 non-syndromic syndactyly biolink:Disease mondo ICD10:Q70.9|Orphanet:90025|MedDRA:10042778|UMLS:C0039075|NCIT:C87125|ICD10:Q70.4|ICD10:Q70.3|ICD10:Q70.2|ICD10:Q70.1|ICD10:Q70.0 A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. MESH:D013576|NCIT:C87125|MEDDRA:10042778|UMLS:C0039075|ORPHA:90025 http://purl.obolibrary.org/obo/MONDO_0019530 nonsyndromic syndactyly|symphalangy|chromosome 2q35 duplication syndrome|webbing of digits|symphalangism|isolated syndactyly|syndactyly ordo_group_of_disorders HGNC:2594 CYP19A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2594 UBERON:0016398 lymph node of lower limb biolink:AnatomicalEntity mondo A lymph node that is part of a hindlimb. http://purl.obolibrary.org/obo/UBERON_0016398 MONDO:0007559 PPR1 biolink:Disease mondo OMIM:132100|UMLS:C1868677 UMLS:C1868677|http://identifiers.org/omim/132100 http://purl.obolibrary.org/obo/MONDO_0007559 photoparoxysmal response 1; PPR1|photosensitivity|epilepsy, photogenic|PPR1|Photoconvulsive reaction|photoparoxysmal response 1|Ppr NCBITaxon:29185 Rotaliida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29185 Rotaliina UBERON:0016392 mastoid lymph node biolink:AnatomicalEntity mondo The mastoid lymph nodes (retroauricular lymph nodes, posterior auricular glands), usually two in number, are situated on the mastoid insertion of the Sternocleidomastoideus, beneath the Auricularis posterior. Their afferent vessels drain the posterior part of the temporoparietal region, the upper part of the cranial surface of the auricula or pinna, and the back of the external acoustic meatus; their efferents pass to the superior deep cervical glands. http://purl.obolibrary.org/obo/UBERON_0016392 retro-auricular node|posterior auricular glands|mastoid node|postauricular lymph node|retro-auricular lymph node|mastoid glands|retroauricular lymph nodes MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails biolink:Disease mondo OMIM:132000|ICD9:757.39|SCTID:2689001|MESH:C562638 SNOMEDCT:2689001|http://identifiers.org/omim/132000|MESH:C562638 http://purl.obolibrary.org/obo/MONDO_0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails|epidermolysis bullosa dystrophica, Bart type MONDO:0007558 benign occipital epilepsy biolink:Disease mondo GARD:0002170|Orphanet:25968|OMIM:132090|ICD10:G40.0|UMLS:C1851549 Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. ORPHA:25968|http://identifiers.org/omim/132090|UMLS:C1851549 http://purl.obolibrary.org/obo/MONDO_0007558 epilepsy, benign occipital; BOE|epilepsy, benign occipital|BOE ordo_disease|gard_rare MONDO:0007555 epidermolysis bullosa simplex Ogna type biolink:Disease mondo MESH:C535962|ICD9:757.39|GARD:0002148|ICD10:Q81.0|SCTID:398071000|Orphanet:79401|DOID:0060736|OMIM:131950 Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. UMLS:C0432317|ORPHA:79401|MESH:C535962|SNOMEDCT:398071000|DOID:0060736|http://identifiers.org/omim/131950 http://purl.obolibrary.org/obo/MONDO_0007555 EBS-O|epidermolysis bullosa simplex, Ogna type|epidermolysis bullosa simplex, Ogna type; EBSOG|EBS-Og|EBSOG gard_rare|ordo_disease MONDO:0020511 precursor B-cell acute lymphoblastic leukemia biolink:Disease mondo Orphanet:99860|ICD10:C83.5|ICDO:9836/3|NCIT:C8644|ICD10:C91.0 The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001) NCIT:C8644|ORPHA:99860 http://purl.obolibrary.org/obo/MONDO_0020511 B-cell Acute Lymphoblastic Leukemia|B-ALL|B-cell acute lymphoblastic leukemia|B acute lymphoblastic leukemia|acute B cell lymphocytic leukemia|B-precursor ALL|precursor B-cell acute lymphocytic leukemia|B-cell type acute leukemia|B-cell acute lymphocytic leukemia|precursor B-cell acute lymphocytic leukemia/lymphoma|B cell acute lymphocytic leukemia|B cell precursor type acute leukemia|precursor B-lymphoblastic leukemia (B-precursor ALL)|B-cell lymphoblastic leukemia|B-cell precursor type acute leukemia|precursor B-cell acute lymphoblastic leukemia/lymphoma|precursor B-lymphoblastic leukemia|acute B-cell lymphocytic leukemia ordo_disease NCBITaxon:29189 Ammonia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29189 MONDO:0007556 epidermolysis bullosa simplex with mottled pigmentation biolink:Disease mondo ICD9:757.39|GARD:0009737|OMIM:131960|MESH:C535959|Orphanet:79397|SCTID:254180002|ICD10:Q81.0 Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. ORPHA:79397|SNOMEDCT:254180002|UMLS:C0432316|MESH:C535959|http://identifiers.org/omim/131960 http://purl.obolibrary.org/obo/MONDO_0007556 speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering|EBS-MP|epidermolysis bullosa simplex with mottled pigmentation; EBSMP|speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering|EBS with mottled pigmentation|EBSMP|epidermolysis bullosa simplex with mottled pigmentation gard_rare|ordo_disease MONDO:0020510 idiopathic syringomyelia biolink:Disease mondo SCTID:725001004|UMLS:C4511700|ICD10:G95.0|Orphanet:99858 Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding. UMLS:C4511700|SNOMEDCT:725001004|ORPHA:99858 http://purl.obolibrary.org/obo/MONDO_0020510 ordo_clinical_subtype MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase biolink:Disease mondo MESH:C565049|UMLS:C1851570|OMIM:131880 MESH:C565049|UMLS:C1851570|http://identifiers.org/omim/131880 http://purl.obolibrary.org/obo/MONDO_0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase MONDO:0007554 generalized epidermolysis bullosa simplex, non-Dowling-Meara type biolink:Disease mondo ICD9:757.39|OMIM:131900|GARD:0002147|Orphanet:79399|ICD10:Q81.0|SCTID:90496008 Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. UMLS:C0079299|SNOMEDCT:90496008|ORPHA:79399|MESH:C535961|http://identifiers.org/omim/131900 http://purl.obolibrary.org/obo/MONDO_0007554 epidermolysis bullosa simplex, Kobner type|epidermolysis bullosa simplex, generalized intermediate|epidermolysis bullosa simplex, generalized non-Dowling-Meara|EBS, generalized intermediate|epidermolysis bullosa simplex, Koebner type|EBS-K|epidermolysis bullosa simplex, Köbner type|EBS, generalized|generalized EBS|epidermolysis bullosa simplex, generalized|generalized EBS, non-Dowling-Meara type ordo_disease MONDO:0007551 localized epidermolysis bullosa simplex biolink:Disease mondo ICD9:757.39|OMIM:131800|GARD:0002146|Orphanet:79400|SCTID:294705005|ICD10:Q81.0 Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. ORPHA:79400|SNOMEDCT:294705005|http://identifiers.org/omim/131800 http://purl.obolibrary.org/obo/MONDO_0007551 Weber-Cockayne type epidermolysis bullosa simplex|EBS, acral form|epidermolysis bullosa of hands and feet|Weber-Cockayne syndrome|EBS-loc|epidermolysis bullosa simplex, Weber-Cockayne type|epidermolysis bullosa simplex, localized|epidermolysis bullosa simplex of palms and soles ordo_disease|gard_rare MONDO:0007552 pretibial dystrophic epidermolysis bullosa biolink:Disease mondo ICD9:757.39|Orphanet:79410|OMIM:131850|MESH:C535494|ICD10:Q81.2|GARD:0002155|SCTID:67653003 Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region. MESH:C535494|ORPHA:79410|SNOMEDCT:67653003|http://identifiers.org/omim/131850 http://purl.obolibrary.org/obo/MONDO_0007552 pretibial DEB|dystrophic epidermolysis bullosa, pretibial|pretibial epidermolysis bullosa|epidermolysis bullosa dystrophica, pretibial|Deb, pretibial|DEB-Pt|epidermolysis bullosa, pretibial ordo_disease UBERON:0016399 lymph node of upper limb biolink:AnatomicalEntity mondo A lymph node that is part of a forelimb. http://purl.obolibrary.org/obo/UBERON_0016399 MONDO:0007550 epidermolysis bullosa simplex Dowling-Meara type biolink:Disease mondo OMIM:131760|SCTID:254179000|GARD:0002141|Orphanet:79396|DOID:0060735|ICD9:771.2|ICD10:Q81.0 Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. ORPHA:79396|DOID:0060735|http://identifiers.org/omim/131760|SNOMEDCT:254179000 http://purl.obolibrary.org/obo/MONDO_0007550 EBS-DM|generalized severe epidermolysis bullosa simplex|epidermolysis bullosa simplex, generalized severe|EBS, generalized severe|epidermolysis bullosa simplex, herpetiformis|epidermolysis bullosa simplex, Dowling-Meara type|Dowling-Meara type epidermolysis bullosa simplex|epidermolysis bullosa herpetiformis, Dowling-Meara type|EBS-gen sev|epidermolysis bullosa herpetiformis Dowling-Meara type|epidermolysis bullosa simplex, Dowling-Meara type; EBSDM|EBSDM ordo_disease|gard_rare MONDO:0020508 primary syringomyelia biolink:Disease mondo SCTID:371076006|Orphanet:99856|ICD10:Q06.4|UMLS:C1299627 ORPHA:99856|UMLS:C1299627|SNOMEDCT:371076006 http://purl.obolibrary.org/obo/MONDO_0020508 congenital syringomyelia ordo_morphological_anomaly MONDO:0019529 radiation myelitis biolink:Disease mondo ICD10:G97.8|ICD9:336.8|Orphanet:90021|SCTID:26037005 A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation. ORPHA:90021|SNOMEDCT:26037005 http://purl.obolibrary.org/obo/MONDO_0019529 radiation myelopathy|delayed radiation myelopathy ordo_disease MONDO:0020507 Cree leukoencephalopathy biolink:Disease mondo Orphanet:99854|ICD10:E75.2 ORPHA:99854 http://purl.obolibrary.org/obo/MONDO_0020507 ordo_clinical_subtype MONDO:0020506 ovarioleukodystrophy biolink:Disease mondo UMLS:C1847967|Orphanet:99853|ICD10:E75.2 ORPHA:99853|UMLS:C1847967 http://purl.obolibrary.org/obo/MONDO_0020506 ordo_clinical_subtype MONDO:0020505 ravine syndrome biolink:Disease mondo SCTID:715794009|ICD10:E75.2|UMLS:CN207401|Orphanet:99852|UMLS:C4275006 Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies. ORPHA:99852|UMLS:CN207401|SNOMEDCT:715794009|UMLS:C4275006 http://purl.obolibrary.org/obo/MONDO_0020505 progressive encephalopathy with severe infantile anorexia|Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome ordo_disease MONDO:0019526 erythema elevatum diutinum biolink:Disease mondo SCTID:58872001|ICD9:695.89|DOID:0060567|MESH:C535509|UMLS:C0263398|ICD10:L95.1|MedDRA:10056968|GARD:0008653|Orphanet:90000 Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses. ORPHA:90000|SNOMEDCT:58872001|MESH:C535509|UMLS:C0263398|DOID:0060567|MEDDRA:10056968 http://purl.obolibrary.org/obo/MONDO_0019526 ordo_disease|gard_rare MONDO:0020504 genetic recurrent myoglobinuria biolink:Disease mondo ICD10:R82.1|Orphanet:99845|SCTID:716721003 Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. ORPHA:99845|SNOMEDCT:716721003 http://purl.obolibrary.org/obo/MONDO_0020504 ordo_disease MONDO:0019525 tetrasomy X biolink:Disease mondo UMLS:C0265496|ICD10:Q97.1|MESH:C536502|ICD9:758.81|SCTID:10567003|Orphanet:9|GARD:0007754 Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). UMLS:C0265496|ORPHA:9|MESH:C536502|SNOMEDCT:10567003 http://purl.obolibrary.org/obo/MONDO_0019525 tetra X|48,XXXX syndrome|quadruple X|48 XXXX syndrome|48 XXXX|tetrasomy type X gard_rare|ordo_malformation_syndrome MONDO:0020503 resistance to thyrotropin-releasing hormone syndrome biolink:Disease mondo ICD10:E03.1|Orphanet:99832|SCTID:725462002|UMLS:CN207394 Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. ORPHA:99832|UMLS:CN207394|SNOMEDCT:725462002 http://purl.obolibrary.org/obo/MONDO_0020503 TRH resistance syndrome|central hypothyroidism due to TRH receptor deficiency ordo_disease MONDO:0020502 yellow fever biolink:Disease mondo ICD9:060.9|GARD:0007914|UMLS:C0043395|MESH:D015004|ICD10:A95.9|MedDRA:10048240|ICD10:A95.1|ICD10:A95.0|Orphanet:99829|ICD9:060|DOID:9682|UMLS:C0043398|UMLS:C0043397|ICD10:A95|NCIT:C35547 Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. ORPHA:99829|DOID:9682|MESH:D015004|MEDDRA:10048240|UMLS:C0043398|UMLS:C0043397|UMLS:C0043395|NCIT:C35547 http://purl.obolibrary.org/obo/MONDO_0020502 Yellow Jack|Yellow fever virus infectious disease|Yellow fever virus caused disease or disorder|Yellow fever virus disease or disorder|Yellow fever Virus infection|urban yellow fever|Yellow fever, sylvan|bronze John|sylvatic yellow fever|YF|jungle yellow fever gard_rare|ordo_disease MONDO:0019528 IgG4-related hepatopathy biolink:Disease mondo Orphanet:90003|ICD10:K75.8 Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion. ORPHA:90003 http://purl.obolibrary.org/obo/MONDO_0019528 inflammatory pseudotumor of the liver ordo_disease MONDO:0019527 undifferentiated connective tissue syndrome biolink:Disease mondo UMLS:C0409999|NCIT:C116776|Orphanet:90002|SCTID:239918008|ICD10:M35.8|MedDRA:10071575 An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases. UMLS:C0409999|MEDDRA:10071575|ORPHA:90002|NCIT:C116776|SNOMEDCT:239918008 http://purl.obolibrary.org/obo/MONDO_0019527 undifferentiated connective tissue disease|UCTD ordo_disease MONDO:0020501 Crimean-Congo hemorrhagic fever biolink:Disease mondo UMLS:C1304456|MESH:D006479|ICD9:065.0|NCIT:C34682|ICD10:A98.0|DOID:12287|UMLS:C0019099|Orphanet:99827|SCTID:402919000 Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure. ORPHA:99827|NCIT:C34682|UMLS:C0019099|DOID:12287|MESH:D006479|UMLS:C1304456|SNOMEDCT:402919000 http://purl.obolibrary.org/obo/MONDO_0020501 Congo hemorrhagic fever|Congo-Crimean hemorrhagic fever|Congo fever|Crimean-Congo haemorrhagic fever|CHF Congo virus|Crimean hemorrhagic fever|Crimean hemorrhagic fever [CHF Congo virus]|CCHF ordo_disease MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other biolink:Disease mondo ICD10:Q81.2|UMLS:CN206337|GARD:0012794|Orphanet:89842 Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. UMLS:CN206337|ORPHA:89842 http://purl.obolibrary.org/obo/MONDO_0019522 RDEB, generalized intermediate|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|RDEB-O|RDEB generalisata mitis|RDEB, non-Hallopeau-Siemens type|RDEB-generalized other|autosomal recessive dystrophic epidermolysis bullosa, generalized other|recessive dystrophic epidermolysis bullosa, generalized intermediate|recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type|generalized mitis RDEB gard_rare|ordo_disease CHEBI:23924 enzyme inhibitor biolink:ChemicalSubstance mondo A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. http://purl.obolibrary.org/obo/CHEBI_23924 inhibiteurs enzymatiques|inhibiteur enzymatique|enzyme inhibitors|inhibidor enzimatico|enzyme inhibitor|inhibidores enzimaticos MONDO:0019521 centripetalis recessive dystrophic epidermolysis bullosa biolink:Disease mondo UMLS:C4511056|SCTID:725419003|Orphanet:89841|ICD10:Q81.2 Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk. UMLS:C4511056|SNOMEDCT:725419003|ORPHA:89841 http://purl.obolibrary.org/obo/MONDO_0019521 RDEB, centripetalis|RDEB-Ce|centripetal dystrophic epidermolysis bullosa|centripetal recessive dystrophic epidermolysis bullosa ordo_disease MONDO:0019524 infantile Bartter syndrome with sensorineural deafness biolink:Disease mondo Orphanet:89938|ICD10:E26.8|GARD:0010508|SCTID:700112007|UMLS:C3838860|UMLS:CN206343 Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. ORPHA:89938|SNOMEDCT:700112007|UMLS:CN206343|UMLS:C3838860 http://purl.obolibrary.org/obo/MONDO_0019524 Bartter syndrome type 4|Bartter syndrome type IV|Bartter syndrome with sensorineural deafness ordo_clinical_subtype MONDO:0019523 obsolete Walker-Warburg syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019523 MONDO:0019520 syndromic lymphedema biolink:Disease mondo UMLS:CN227645|Orphanet:89832 A lymphedema that is part of a larger syndrome. UMLS:CN227645|ORPHA:89832 http://purl.obolibrary.org/obo/MONDO_0019520 syndromic lymphedema|syndrome associated with lymphedema|syndrome associated with lymphedema ordo_group_of_disorders MONDO:0020509 secondary syringomyelia biolink:Disease mondo Orphanet:99857|ICD10:G95.0 Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings. ORPHA:99857 http://purl.obolibrary.org/obo/MONDO_0020509 ordo_disease NCBITaxon:29171 Dictyocaulus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29171 MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified biolink:Disease mondo MESH:C562424|UMLS:C0220679|OMIM:130090 MESH:C562424|UMLS:C0220679|http://identifiers.org/omim/130090 http://purl.obolibrary.org/obo/MONDO_0007528 EDS, unspecified type|Ehlers-Danlos syndrome, Friedman-Harrod type|Ehlers-Danlos syndrome, autosomal dominant, type unspecified MONDO:0007529 elastosis perforans serpiginosa biolink:Disease mondo OMIM:130100|SCTID:49428008|MedDRA:10014338|GARD:0010103|MESH:C536202|Orphanet:79148|ICD10:L87.2|UMLS:C0221271 MEDDRA:10014338|http://identifiers.org/omim/130100|MESH:C536202|SNOMEDCT:49428008|ORPHA:79148|UMLS:C0221271 http://purl.obolibrary.org/obo/MONDO_0007529 elastoma Intrapapillare perforans verruciformis|elastosis perforans serpiginosa; eps|eps|Miescher elastoma|elastosis perforans serpiginosa ordo_disease|gard_rare MONDO:0007526 Ehlers-Danlos syndrome progeroid type biolink:Disease mondo MESH:C536201|DOID:0050802|Orphanet:75496|ICD10:Q79.6|SCTID:720861000|GARD:0009991|UMLS:C1869122 Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. ORPHA:75496|UMLS:C1869122|MESH:C536201|SNOMEDCT:720861000|DOID:0050802 http://purl.obolibrary.org/obo/MONDO_0007526 PDS|Ehlers-Danlos syndrome, progeroid type (former)|XGPT deficiency|proteodermatan sulfate, defective biosynthesis of|dermatan sulfate proteoglycan|Ehlers-Danlos syndrome, spondylodysplastic type, 1; EDSSPD1|defective biosynthesis of proteodermatan sulfate|defective biosynthesis of proteodermatan sulfate|Ehlers-Danlos syndrome with short stature and limb anomalies|galactosyltransferase 1 deficiency|Ehlers-Danlos syndrome, progeroid type, 2|galactosyltransferase I deficiency|EDS, progeroid type|spondylodysplastic Ehlers-Danlos syndrome|xylosylprotein 4-beta-galactosyltransferase deficiency|B4GALT7-CDG|Ehlers-Danlos syndrome, progeroid type|Pds, defective biosynthesis of|Ehlers-Danlos syndrome, spondylodysplastic type, 1 ordo_disease MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type biolink:Disease mondo MESH:C562626|GARD:0012474|ICD10:Q79.6|Orphanet:75392|SCTID:50869007 Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. MESH:C562626|http://identifiers.org/omim/130080|ORPHA:75392|SNOMEDCT:50869007 http://purl.obolibrary.org/obo/MONDO_0007527 Ehlers-Danlos syndrome, periodontosis type|EDS 8|Ehlers-Danlos syndrome, periodontitis type|Ehlers-Danlos syndrome type 8|EDS VIII|Ehlers-Danlos syndrome, type 8|pEDS|EDS VIII (formerly)|periodontal Ehlers-Danlos syndrome|periodontal EDS|Ehlers-Danlos syndrome type 8 (formerly)|Ehlers-Danlos syndrome, type VIII|EDS8|Ehlers-Danlos syndrome, type VIII (formerly)|EDS8 (formerly) ordo_disease MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type biolink:Disease mondo OMIM:130050|DOID:14756 The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. http://identifiers.org/omim/130050|DOID:14756 http://purl.obolibrary.org/obo/MONDO_0007524 Ehlers-Danlos syndrome, Ecchymotic type|Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, vascular type; EDSVASC|Ehlers-Danlos syndrome, type IV, autosomal dominant|Ehlers-Danlos syndrome, vascular type, autosomal dominant|Ehlers-Danlos syndrome, sack-Barabas type|EDS 4|autosomal dominant type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, arterial type|EDSVASC MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type biolink:Disease mondo MESH:C562625|NCIT:C125701|ICD10:Q79.6|GARD:0002084|SCTID:4170004|OMIM:130060|Orphanet:1899|UMLS:CN200649 Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. NCIT:C125701|MESH:C562625|http://identifiers.org/omim/130060|SNOMEDCT:4170004|UMLS:CN200649|ORPHA:1899 http://purl.obolibrary.org/obo/MONDO_0007525 Ehlers-Danlos syndrome type 7|arthrochalasia Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VII, autosomal dominant|Ehlers-Danlos syndrome type 7A (formerly)|AEDS|EDS VII|EDS VII, mutant procollagen type|EDSARTH1|arthrochalasia EDS|arthrochalasis multiplex congenita|Ehlers-Danlos syndrome, arthrochalasia type|Ehlers-Danlos syndrome, arthrochalasia type, 1|Ehlers-Danlos syndrome, type VIIA, autosomal dominant|Ehlers-Danlos syndrome, arthrochalasia type, 1; EDSARTH1|Ehlers-Danlos syndrome, type VII|EDS 7B|EDS 7A|EDS7A (formerly) ordo_disease|gard_rare MONDO:0020500 Marburg hemorrhagic fever biolink:Disease mondo MESH:D008379|NCIT:C84883|EFO:0007358|UMLS:C0024788|GARD:0009444|SCTID:77503002|MedDRA:10026822|DOID:4327|ICD9:078.89|Orphanet:99826|ICD10:A98.3 Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. MESH:D008379|DOID:4327|SNOMEDCT:77503002|UMLS:C0024788|NCIT:C84883|MEDDRA:10026822|ORPHA:99826 http://purl.obolibrary.org/obo/MONDO_0020500 Marburg disease|MHF|Marburg virus disease|Green monkey disease ordo_disease|gard_rare MONDO:0007522 Ehlers-Danlos syndrome, classic type biolink:Disease mondo GARD:0002088|SCTID:715318006|ICD10:Q79.6|Orphanet:287|UMLS:C4225429|OMIM:130000 Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. http://identifiers.org/omim/130000|SNOMEDCT:715318006|ORPHA:287|UMLS:C4225429 http://purl.obolibrary.org/obo/MONDO_0007522 Ehlers-Danlos syndrome classical type|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome classic type|Ehlers Danlos syndrome, mild classic type, formerly|Ehlers-Danlos syndrome, type II, formerly|Ehlers Danlos syndrome, mild classic type|EDS, classic type|EDSCL1|Ehlers-Danlos syndrome type 1 (formerly)|Ehlers-Danlos syndrome, severe classic type, formerly|Ehlers-Danlos syndrome, type II|Ehlers-Danlos syndrome, classic type, 1|classical Ehlers-Danlos syndrome|Ehlers-Danlos syndrome type 2 (formerly)|EDS I, formerly|Ehlers-Danlos syndrome, severe classic type|EDS II, formerly|Ehlers Danlos syndrome, mitis type, formerly|EDS I|Ehlers-Danlos syndrome, gravis type, formerly|EDS II|Ehlers Danlos syndrome, mitis type|Ehlers-Danlos syndrome, type I, formerly|Ehlers-Danlos syndrome, gravis type|Ehlers-Danlos syndrome type 2|classic Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type I|Ehlers-Danlos syndrome, classic type, 1; EDSCL1 ordo_disease NCBITaxon:29178 Foraminifera organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29178 Foraminiferida|forams|foraminifers MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type biolink:Disease mondo ICD10:Q79.6|OMIM:130020|NCIT:C125698|SCTID:30652003|Orphanet:285|GARD:0002081|DOID:14757|UMLS:C0268337|MESH:C536196 Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. UMLS:C0268337|http://identifiers.org/omim/130020|MESH:C536196|ORPHA:285|DOID:14757|SNOMEDCT:30652003|NCIT:C125698 http://purl.obolibrary.org/obo/MONDO_0007523 EDSHMB|hypermobile EDS|EDS3 (formerly)|Ehlers-Danlos syndrome, hypermobility type|EDS III|Ehlers-Danlos syndrome type 3 (formerly)|benign joint hypermobility syndrome|Ehlers-Danlos syndrome, hypermobility type; EDSHMB|Ehlers-Danlos syndrome, type III|Ehlers-Danlos syndrome type 3|hEDS|Ehlers-Danlos syndrome, type 3|EDS 3|benign hypermobility syndrome|HT-EDS|BJHS|Ehlers-Danlos syndrome, hypermobile type|hypermobile Ehlers-Danlos syndrome ordo_disease MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 biolink:Disease mondo DOID:0060784|ICD10:Q82.4|OMIM:129900|MESH:C565062 An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. MESH:C565062|DOID:0060784|http://identifiers.org/omim/129900 http://purl.obolibrary.org/obo/MONDO_0007520 EEC syndrome 1|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1; EEC1|EEC|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1|EEC1 MONDO:0007521 obsolete egasyn biolink:Disease mondo OMIM:129905 http://identifiers.org/omim/129905 http://purl.obolibrary.org/obo/MONDO_0007521 esterase 22|egasyn MONDO:0019519 obsolete rare skin disease biolink:Disease mondo Orphanet:89826|UMLS:CN206332 Rare skin disease. ORPHA:89826|UMLS:CN206332 http://purl.obolibrary.org/obo/MONDO_0019519 rare skin disease obsoletion_candidate|ordo_group_of_disorders MONDO:0019518 Waardenburg-Shah syndrome biolink:Disease mondo UMLS:CN206330|NCIT:C124842|Orphanet:897|ICD10:Q87.8|GARD:0005524 Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease. NCIT:C124842|ORPHA:897|UMLS:CN206330 http://purl.obolibrary.org/obo/MONDO_0019518 Waardenburg-Hirschsprung disease|WS4|Waardenburg-Shah syndrome|Waardenburg syndrome type IV|Hirschsprung disease with pigmentary anomaly|Waardenburg syndrome type 4|Shah-Waardenburg syndrome|Waardenburg-Hirschsprung syndrome ordo_disease|gard_rare MONDO:0019515 obsolete rare dementia biolink:Disease mondo UMLS:CN227644|Orphanet:89043 Rare dementia. UMLS:CN227644|ORPHA:89043 http://purl.obolibrary.org/obo/MONDO_0019515 rare dementia obsoletion_candidate|ordo_group_of_disorders MONDO:0019514 hepatic veno-occlusive disease biolink:Disease mondo Orphanet:890|MedDRA:10047216|ICD9:453.89|ICD10:K76.5|DOID:0080177|GARD:0013004|NCIT:C26793|SCTID:65617004|MESH:D006504|UMLS:C0019156 Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins. SNOMEDCT:65617004|DOID:0080177|MEDDRA:10047216|UMLS:C0019156|ORPHA:890|MESH:D006504|NCIT:C26793 http://purl.obolibrary.org/obo/MONDO_0019514 liver veno-occlusive disease|hepatic Vod|veno-occlusive disease|sinusoidal obstruction syndrome gard_rare|ordo_disease MONDO:0019517 Waardenburg syndrome type 2 biolink:Disease mondo NCIT:C75009|UMLS:C2700265|MESH:C536463|Orphanet:895|GARD:0005520|ICD10:E70.3 Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. UMLS:C2700265|NCIT:C75009|MESH:C536463|ORPHA:895 http://purl.obolibrary.org/obo/MONDO_0019517 WS2|Waardenburg syndrome type II|WS type 2|WS 2 gard_rare|ordo_clinical_subtype MONDO:0019516 exudative vitreoretinopathy biolink:Disease mondo GARD:0001613|ICD10:H35.0|ICD9:362.10|DOID:0050535|OMIMPS:133780|Orphanet:891|ICD10:H35.00|MESH:C580083|UMLS:C4072980|SCTID:232063007 Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. UMLS:C0339539|DOID:0050535|ORPHA:891|SNOMEDCT:232063007|MESH:C580083|UMLS:C4072980 http://purl.obolibrary.org/obo/MONDO_0019516 FEVR|Criswick-Schepens syndrome|familial exudative vitreoretinopathy|exudative vitreoretinopathy, familial ordo_disease MONDO:0019511 autosomal dominant medullary cystic kidney disease with hyperuricemia biolink:Disease mondo UMLS:CN206322|Orphanet:88950|GARD:0010679|ICD10:Q61.5 An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. ORPHA:88950|UMLS:CN206322 http://purl.obolibrary.org/obo/MONDO_0019511 UMOD-related ADTKD|autosomal dominant medullary cystic kidney disease type 2|ADTKD-UMOD|ADMCKD2|UMOD-related autosomal dominant tubulointerstitial kidney disease ordo_clinical_subtype MONDO:0019510 obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019510 MONDO:0019513 esophageal malformation biolink:Disease mondo Orphanet:88993 ORPHA:88993 http://purl.obolibrary.org/obo/MONDO_0019513 ordo_group_of_disorders MONDO:0019512 congenital heart malformation biolink:Disease mondo EFO:0005269|Orphanet:88991 A disease that has its basis in the disruption of heart development. ORPHA:88991 http://purl.obolibrary.org/obo/MONDO_0019512 rare congenital non-syndromic heart malformation|disorder of heart development|congenital non-syndromic heart malformation|heart development disease|congenital heart malformation|disorder of heart development ordo_group_of_disorders MONDO:0007539 encephalopathy, recurrent, of childhood biolink:Disease mondo OMIM:130950|MESH:C536407|GARD:0002117 http://identifiers.org/omim/130950|MESH:C536407 http://purl.obolibrary.org/obo/MONDO_0007539 encephalopathy, recurrent, of childhood|Neuhauser Eichner Opitz syndrome|encephalopathy recurrent of childhood gard_rare MONDO:0007537 lateral meningocele syndrome biolink:Disease mondo ICD10:Q87.5|Orphanet:2789|UMLS:C1851710|MESH:C537878|OMIM:130720|GARD:0009873 UMLS:C1851710|UMLS:C0344487|ORPHA:2789|http://identifiers.org/omim/130720|MESH:C537878 http://purl.obolibrary.org/obo/MONDO_0007537 Lehman syndrome|LMNS|lateral meningocele syndrome; LMNS|Lms|lateral meningocele syndrome ordo_malformation_syndrome MONDO:0007538 amelogenesis imperfecta, type 3A biolink:Disease mondo Orphanet:100032|DOID:0110055|ICD10:K00.5|MESH:C562880|SCTID:109471001|OMIM:130900 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene. MESH:C562880|http://identifiers.org/omim/130900|DOID:0110055|SNOMEDCT:109471001|ORPHA:100032 http://purl.obolibrary.org/obo/MONDO_0007538 autosomal dominant amelogenesis imperfecta hypocalcification type|amelogenesis imperfecta, type 3|amelogenesis imperfecta, type III|AI3|amelogenesis imperfecta caused by mutation in FAM83H|FAM83H amelogenesis imperfecta|amelogenesis imperfecta, type IIIA; AI3A|amelogenesis imperfecta, hypocalcification type, autosomal dominant|amelogenesis imperfecta type 3|amelogenesis imperfecta type 3A|amelogenesis imperfecta hypomineralization type|amelogenesis imperfecta, type 3A|amelogenesis imperfecta, type III; AI3|AI3A|amelogenesis imperfecta type III|ADHCAI|amelogenesis imperfecta, hypomineralization type ordo_clinical_subtype MONDO:0007535 emphysema, hereditary pulmonary biolink:Disease mondo MESH:C565057|OMIM:130700|UMLS:C1851718 UMLS:C1851718|http://identifiers.org/omim/130700|MESH:C565057 http://purl.obolibrary.org/obo/MONDO_0007535 emphysema, hereditary pulmonary MONDO:0007536 congenital lobar emphysema biolink:Disease mondo NCIT:C98895|ICD10:Q33.8|OMIM:130710|SCTID:66987001|Orphanet:1928|GARD:0002104|UMLS:C0265797|MedDRA:10010456|MESH:C535735 Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung. http://identifiers.org/omim/130710|MEDDRA:10010456|ORPHA:1928|UMLS:C0265797|SNOMEDCT:66987001|MESH:C535735|NCIT:C98895 http://purl.obolibrary.org/obo/MONDO_0007536 infantile lobar hyperinflation|emphysema, congenital lobar|CLE|emphysema, congenital lobar; CLE|congenital lobar hyperinflation ordo_morphological_anomaly MONDO:0007533 elliptocytosis 2 biolink:Disease mondo MESH:C565058|UMLS:C1851741|OMIM:130600 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene. UMLS:C1851741|http://identifiers.org/omim/130600|MESH:C565058 http://purl.obolibrary.org/obo/MONDO_0007533 elliptocytosis 2|elliptocytosis, Rhesus-unlinked type|SPTA1 hereditary elliptocytosis|EL2|elliptocytosis type 2|elliptocytosis 2; EL2|hereditary elliptocytosis caused by mutation in SPTA1 MONDO:0007534 Beckwith-Wiedemann syndrome biolink:Disease mondo OMIM:130650|NCIT:C34415|SCTID:81780002|ICD10:Q87.3|MESH:D001506|GARD:0003343|UMLS:C0004903|Orphanet:116|ICD9:759.89|DOID:5572|MedDRA:10050344 Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. UMLS:C0004903|http://identifiers.org/omim/130650|MESH:D001506|ORPHA:116|DOID:5572|NCIT:C34415|MEDDRA:10050344|SNOMEDCT:81780002 http://purl.obolibrary.org/obo/MONDO_0007534 exomphalos-macroglossia-gigantism syndrome|Beckwith-Wiedemann syndrome; BWS|EMG syndrome|Beckwith-Wiedemann syndrome chromosome region|Wiedemann-Beckwith syndrome (WBS)|Beckwith-Wiedemann syndrome|Wiedemann-Beckwith syndrome|exomphalos macroglossia gigantism syndrome|BWS|BWS gard_rare|ordo_malformation_syndrome FOODON:03460130 physical/chemical modification process biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03460130 MONDO:0007531 electroencephalographic peculiarity: fronto-precentral beta wave groups biolink:Disease mondo OMIM:130300 http://identifiers.org/omim/130300 http://purl.obolibrary.org/obo/MONDO_0007531 electroencephalographic peculiarity: fronto-precentral beta wave groups MONDO:0007532 Electroencephalographic peculiarity: occipital slow beta waves biolink:Disease mondo OMIM:130400 http://identifiers.org/omim/130400 http://purl.obolibrary.org/obo/MONDO_0007532 Electroencephalographic peculiarity: occipital slow beta waves MONDO:0007530 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon biolink:Disease mondo OMIM:130200 http://identifiers.org/omim/130200 http://purl.obolibrary.org/obo/MONDO_0007530 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon NCBITaxon:29169 Ancylostoma organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_29169 MONDO:0019508 van der Woude syndrome biolink:Disease mondo Orphanet:888|NCIT:C74986|ICD10:Q38.0|DOID:0060239|UMLS:C0175697|GARD:0008414|ICD9:744.89|MESH:C536528|SCTID:79261008 Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. NCIT:C74986|UMLS:C0175697|SNOMEDCT:79261008|MESH:C536528|ORPHA:888|DOID:0060239 http://purl.obolibrary.org/obo/MONDO_0019508 cleft lip/palate with mucous cysts of lower lip|cleft lip and/or palate with mucous cysts of lower lip|LPS|lip-pit syndrome|VWS|lip pit syndrome|lip-pit syndrome ordo_malformation_syndrome MONDO:0019507 amelogenesis imperfecta biolink:Disease mondo ICD10:K00.5|CSP:0828-0533|SCTID:78494001|MESH:D000567|ICD9:520.5|Orphanet:88661|GARD:0005791|OMIMPS:104500|DOID:2187 Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. UMLS:C0002452|ORPHA:88661|MESH:D000567|DOID:2187|SNOMEDCT:78494001 http://purl.obolibrary.org/obo/MONDO_0019507 ordo_disease|gard_rare|clingen MONDO:0019509 cutaneous leukocytoclastic angiitis biolink:Disease mondo SCTID:718217000|NCIT:C122919|ICD10:M31.0|Orphanet:889|COHD:196431|GARD:0007851 Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. SNOMEDCT:718217000|NCIT:C122919|ORPHA:889 http://purl.obolibrary.org/obo/MONDO_0019509 cutaneous small vessel vasculitis|cutaneous small-vessel vasculitis|cutaneous leukocytoclastic vasculitis|cutaneous hypersensitivity vasculitis|leukocytoclastic angiitis|hypersensitivity angiitis ordo_disease UBERON:0004395 epiphysis of first metatarsal bone biolink:AnatomicalEntity mondo An epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004395 first metatarsal bone epiphysis|metatarsal 1 epiphysis MONDO:0019504 superior limbic keratoconjunctivitis biolink:Disease mondo SCTID:231903005|UMLS:C0339229|GARD:0010940|ICD10:H16.2|ICD9:370.49|Orphanet:88633 Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both. ORPHA:88633|SNOMEDCT:231903005|UMLS:C0339229 http://purl.obolibrary.org/obo/MONDO_0019504 Theodore's syndrome|Theodore's superior limbic keratoconjunctivitis|SLK|Theodores syndrome|Theodores superior limbic keratoconjunctivitis ordo_disease|gard_rare MONDO:0019503 anterior segment dysgenesis biolink:Disease mondo DC:0000735|OMIMPS:107250|ICD9:743.49|ICD10:Q13.8|Orphanet:88632|GARD:0010025|SCTID:65075004 A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). SNOMEDCT:65075004|ORPHA:88632 http://purl.obolibrary.org/obo/MONDO_0019503 ASMD|ASOD|anterior segment ocular dysgenesis|anterior segment mesenchymal dysgenesis|FOXE3-related ocular disorder|familial ocular anterior segment mesenchymal dysgenesis|ASGD ordo_group_of_disorders|gard_rare UBERON:0004390 epiphysis of metacarpal bone biolink:AnatomicalEntity mondo An epiphysis that is part of a metacarpal bone [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004390 metacarpal bone epiphysis|epiphysis of metacarpal|metacarpal epiphysis MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome biolink:Disease mondo SCTID:722051004|Orphanet:88643|UMLS:CN227640 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. ORPHA:88643|SNOMEDCT:722051004|UMLS:CN227640 http://purl.obolibrary.org/obo/MONDO_0019506 ordo_disease UBERON:0004391 epiphysis of first metacarpal bone biolink:AnatomicalEntity mondo An epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004391 first metacarpal bone epiphysis|metacarpal 1 epiphysis MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome biolink:Disease mondo Orphanet:88637|UMLS:CN206304|ICD10:G11.1 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. ORPHA:88637|UMLS:CN206304 http://purl.obolibrary.org/obo/MONDO_0019505 4H syndrome ordo_disease MONDO:0019500 extragonadal teratoma biolink:Disease mondo MedDRA:10043276|SCTID:768937006|Orphanet:883 Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor. UMLS:C0039538|MESH:D013724|ORPHA:883|MEDDRA:10043276|SNOMEDCT:768937006 http://purl.obolibrary.org/obo/MONDO_0019500 ordo_disease MONDO:0019502 autosomal recessive non-syndromic intellectual disability biolink:Disease mondo DOID:0060308|UMLS:CN206293|OMIMPS:249500|Orphanet:88616 Autosomal recessive form of non-syndromic intellectual disability. ORPHA:88616|UMLS:CN206293|DOID:0060308 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic mental retardation|autosomal recessive mental retardation|AR-NSID|autosomal recessive intellectual disability|mental retardation, autosomal recessive|autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive|NS-ARID|non-syndromic intellectual disability, autosomal recessive MONDO:0019501 Usher syndrome biolink:Disease mondo Orphanet:886|NCIT:C85217|ICD10:H35.5|DOID:0050439|MedDRA:10063396|MESH:D052245|OMIMPS:276900|GARD:0007843|UMLS:C0271097 Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. UMLS:C0271097|DOID:0050439|MEDDRA:10063396|ORPHA:886|MESH:D052245|NCIT:C85217 http://purl.obolibrary.org/obo/MONDO_0019501 deafness-retinitis pigmentosa syndrome|Graefe-Usher syndrome|dystrophia retinae pigmentosa-dysostosis syndrome|Hallgren syndrome|retinitis pigmentosa-deafness syndrome|Usher's syndrome|ush ordo_disease CHEBI:23906 monoatomic cation biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23906 monoatomic cations UBERON:0004399 epiphysis of fifth metatarsal bone biolink:AnatomicalEntity mondo An epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004399 fifth metatarsal bone epiphysis|metatarsal 5 epiphysis CHEBI:23905 monoatomic anion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23905 monoatomic anions GO:0042088 T-helper 1 type immune response biolink:OntologyClass mondo An immune response which is associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis, and which is typically orchestrated by the production of particular cytokines by T-helper 1 cells, most notably interferon-gamma, IL-2, and lymphotoxin. http://purl.obolibrary.org/obo/GO_0042088 Th1 immune response UBERON:0006960 ovary stroma biolink:AnatomicalEntity mondo The stroma of the ovary is a peculiar soft tissue, abundantly supplied with blood vessels, consisting for the most part of spindle-shaped cells with a small amount of ordinary connective tissue. These cells have been regarded by some anatomists as unstriped muscle cells, which, indeed, they most resemble; by others as connective-tissue cells. On the surface of the organ this tissue is much condensed, and forms a layer composed of short connective-tissue fibers, with fusiform cells between them. The stroma of the ovary may contain interstitial cells resembling those of the testis. http://purl.obolibrary.org/obo/UBERON_0006960 stroma ovarica|stroma ovarii|ovary stroma|interstitial tissue of ovary|stroma of the ovary|ovarian stroma CHEBI:33352 manganese group element atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33352 manganese group element|group 7 elements|manganese group elements CHEBI:33356 iron group element atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33356 group 8 elements|iron group element|iron group elements CHEBI:33358 cobalt group element atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group elements|group 9 elements|cobalt group element PATO:0002266 3-D shape biolink:OntologyClass mondo A shape that inheres in a 3 dimensional entity. http://purl.obolibrary.org/obo/PATO_0002266 UBERON:0006966 coronary capillary biolink:AnatomicalEntity mondo A capillary that is part of the coronary system. http://purl.obolibrary.org/obo/UBERON_0006966 heart capillary GO:0019730 antimicrobial humoral response biolink:OntologyClass mondo An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus. http://purl.obolibrary.org/obo/GO_0019730 UBERON:0006965 vascular cord biolink:AnatomicalEntity mondo The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. http://purl.obolibrary.org/obo/UBERON_0006965 UBERON:0006964 pars distalis of adenohypophysis biolink:AnatomicalEntity mondo The distal part of adenohypophysis: the part that makes up the main body of the gland. http://purl.obolibrary.org/obo/UBERON_0006964 pars distalis|pars distalis (glandula pituitaria)|pars distalis lobi anterioris hypophyseos|DHP|distal part of the hypophysis|pars glandularis|pars distalis of anterior lobe of pituitary gland|pars glandularis of adenohypophysis|pars anterior of adenohypophysis|pars anterior|anterior lobe|pars distalis adenohypophysis|pars distalis (hypophysis)|distal part of hypophysis|pars distalis adenohypophyseos UBERON:0004301 middle phalanx biolink:AnatomicalEntity mondo A phalanx located between proximal and distal phalanges. http://purl.obolibrary.org/obo/UBERON_0004301 phalanx II|intermediate phalanx|penultimate phalanx|medial phalanx|phalanx 2 UBERON:0004302 proximal phalanx biolink:AnatomicalEntity mondo Proximal-most phalanx within a digit. http://purl.obolibrary.org/obo/UBERON_0004302 phalanx I|proximal-most phalanx|phalanx 1 UBERON:0004300 distal phalanx biolink:AnatomicalEntity mondo Distal-most phalanx within a digit. http://purl.obolibrary.org/obo/UBERON_0004300 terminal phalanx|phalanx distalis|phalanx distalis|ungual phalanx GO:0042092 type 2 immune response biolink:OntologyClass mondo An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. http://purl.obolibrary.org/obo/GO_0042092 T-helper 2 type immune response|Th2 immune response UBERON:0006948 efferent duct epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a efferent duct. http://purl.obolibrary.org/obo/UBERON_0006948 epithelium of efferent ductule of testis UBERON:0006947 male genital duct biolink:AnatomicalEntity mondo A duct or series of ducts that transports sperm from the gonad. In mammals this is from the seminiferous tubules through rete testis, vas efferentia, epididymis, vas deferens, ejeculatory duct to the urethra. http://purl.obolibrary.org/obo/UBERON_0006947 sperm ducts|sperm duct GO:0005102 signaling receptor binding biolink:OntologyClass mondo Interacting selectively and non-covalently with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/GO_0005102 receptor ligand|receptor binding|receptor-associated protein activity GO:0019747 regulation of isoprenoid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids. http://purl.obolibrary.org/obo/GO_0019747 regulation of isoprenoid metabolism UBERON:0006957 submandibular gland primordium epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a submandibular gland primordium. http://purl.obolibrary.org/obo/UBERON_0006957 submaxillary gland primordium epithelium UBERON:0006956 buccal mucosa biolink:AnatomicalEntity mondo The inner lining of the cheeks and lips. http://purl.obolibrary.org/obo/UBERON_0006956 UBERON:0006955 uterine epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a uterus. http://purl.obolibrary.org/obo/UBERON_0006955 uterus epithelium UBERON:0006953 ejaculatory duct epithelium biolink:AnatomicalEntity mondo The ejaculatory duct epithelium is composed of cuboidal to columnar cells between or through which project the terminal parts of the ducts of the unicellular prostate glands. http://purl.obolibrary.org/obo/UBERON_0006953 CHEBI:33362 nickel group element atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33362 nickel group element|nickel group elements|group 10 elements UBERON:0006938 pinna surface epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a pinna. http://purl.obolibrary.org/obo/UBERON_0006938 UBERON:0006937 inner ear epithelium biolink:AnatomicalEntity mondo the epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals http://purl.obolibrary.org/obo/UBERON_0006937 UBERON:0006936 thymus subcapsular epithelium biolink:AnatomicalEntity mondo the epithelial cells lining the capsule and trabeculae of the thymus http://purl.obolibrary.org/obo/UBERON_0006936 CHEBI:35992 penams biolink:ChemicalSubstance mondo Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5R configuration unless otherwise specified. http://purl.obolibrary.org/obo/CHEBI_35992 penams UBERON:0006946 efferent duct biolink:AnatomicalEntity mondo The efferent ducts (or efferent ductules or ductuli efferentes) connect the rete testis with the initial section of the epididymis. The ductuli are unilaminar and composed of columnar ciliated and non-ciliated (absorptive) cells. The ciliated cells serve to stir the luminal fluids, possibly to help ensure homogeneous absorption of water from the fluid produced by the testis, which results in an increase in the concentration of luminal sperm. The epithelium is surrounded by a band of smooth muscle that helps to propel the sperm toward the epididymis. http://purl.obolibrary.org/obo/UBERON_0006946 seminal duct|efferent ductule|vasa efferentia|ductuli efferentes testis UBERON:0006929 glandular columnar epithelium biolink:AnatomicalEntity mondo Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA] http://purl.obolibrary.org/obo/UBERON_0006929 UBERON:0006925 digestive system gland biolink:AnatomicalEntity mondo Any gland that is part of the digestive system. http://purl.obolibrary.org/obo/UBERON_0006925 digestive gland GO:0019724 B cell mediated immunity biolink:OntologyClass mondo Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. http://purl.obolibrary.org/obo/GO_0019724 B-cell mediated immunity|B lymphocyte mediated immunity|B-lymphocyte mediated immunity|B-lymphocyte mediated immune effector process|B lymphocyte mediated immune effector process|B-cell mediated immune effector process GO:0019725 cellular homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state at the level of the cell. http://purl.obolibrary.org/obo/GO_0019725 FOODON:03315468 shellfish meat (whole or parts) biolink:OntologyClass mondo SUBSET_SIREN:F15468 http://purl.obolibrary.org/obo/FOODON_03315468 "subset_siren" UBERON:0006934 sensory epithelium biolink:AnatomicalEntity mondo Simple columnar epithelium made up of cells specialized to serve as sensory cells for the reception of external stimuli, as the sensory cells of the cochlea, vestibule, nasal mucosa, and tongue. http://purl.obolibrary.org/obo/UBERON_0006934 neuroepithelium HGNC:2501 CTH biolink:OntologyClass mondo http://identifiers.org/hgnc/2501 UBERON:0006932 vestibular epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a vestibular labyrinth. http://purl.obolibrary.org/obo/UBERON_0006932 vestibular sensory epithelium|inner ear vestibular component epithelium|epithelium of vestibular labyrinth UBERON:0006931 stomach glandular region mucosa biolink:AnatomicalEntity mondo stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. http://purl.obolibrary.org/obo/UBERON_0006931 stomach glandular region glandular mucous membrane CHEBI:33340 zinc group element atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33340 group 12 elements|zinc group elements|zinc group element HGNC:2509 CTNNA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2509 HGNC:2505 CTLA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/2505 CHEBI:33318 main group element atom biolink:ChemicalSubstance mondo An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table. http://purl.obolibrary.org/obo/CHEBI_33318 main group element|main group elements|Hauptgruppenelemente|Hauptgruppenelement UBERON:0004341 primitive streak biolink:AnatomicalEntity mondo The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP] http://purl.obolibrary.org/obo/UBERON_0004341 primitive streak - blastopore - germ ring UBERON:0004340 allantois biolink:AnatomicalEntity mondo A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. http://purl.obolibrary.org/obo/UBERON_0004340 allantoic bud UBERON:0004347 limb bud biolink:AnatomicalEntity mondo An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/UBERON_0004347 limbbud|gemmae membrorum|limb buds HGNC:2511 CTNNA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2511 UBERON:0004348 optic eminence biolink:AnatomicalEntity mondo The embryonic structure that gives rise to the corneal ectoderm http://purl.obolibrary.org/obo/UBERON_0004348 UBERON:0004345 trophectoderm biolink:AnatomicalEntity mondo outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition http://purl.obolibrary.org/obo/UBERON_0004345 UBERON:0004346 gubernaculum (male or female) biolink:AnatomicalEntity mondo embryonic structures which begin as undifferentiated mesenchyme attaching to the caudal end of the gonads. The gubernaculum is present only during the development of the urinary and reproductive organs, being replaced by distinct vestiges in males and females[WP]. Enitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus[MP] http://purl.obolibrary.org/obo/UBERON_0004346 gubernaculum|caudal suspensory ligament|gubernaculae|Gabernaculum HGNC:2519 CTPS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2519 HGNC:2518 CTNS biolink:OntologyClass mondo http://identifiers.org/hgnc/2518 HGNC:2515 CTNND1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2515 HGNC:2514 CTNNB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2514 CHEBI:33327 silicon oxide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33327 oxides of silicon|silicon oxides HP:0004408 Abnormality of the sense of smell biolink:PhenotypicFeature mondo UMLS:C4021655 An anomaly in the ability to perceive and distinguish scents (odors). http://purl.obolibrary.org/obo/HP_0004408 Abnormality of the sense of smell|Abnormality of olfaction|Abnormal sense of smell|Smell defect hposlim_core UBERON:0004331 proximal phalanx of manual digit 5 biolink:AnatomicalEntity mondo A proximal phalanx that is part of a hand digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004331 proximal phalanx of fifth finger|proximal phalanx of 5th finger|manual digit 5 proximal phalanx|proximal phalanx of little finger|manual phalanx V-1|proximal phalanx of manual digit V|5th digit of hand proximal phalanx|fifth proximal phalanx of hand|proximal phalanx of 5th digit of hand|5th finger proximal phalanx|hand digit 5 proximal phalanx|proximal phalanx of fifth digit of hand|fifth finger proximal phalanx NCBITaxon:272561 Chlamydia trachomatis D/UW-3/CX organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_272561 Chlamydia trachomatis strain D/UW-3/CX|Chlamydia trachomatis str. D/UW-3/CX UBERON:0004338 proximal phalanx of manual digit 1 biolink:AnatomicalEntity mondo A proximal phalanx that is part of a hand digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004338 manual digit 1 proximal phalanx|manual phalanx I-1|proximal phalanx of thumb|proximal phalanx of first digit of hand|first proximal phalanx of hand|proximal phalanx of manual digit I|thumb proximal HGNC:2523 CTRC biolink:OntologyClass mondo http://identifiers.org/hgnc/2523 UBERON:0004336 proximal phalanx of pedal digit 5 biolink:AnatomicalEntity mondo A proximal phalanx that is part of a pedal digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004336 proximal phalanx of fifth digit of foot|5th toe proximal phalanx|pedal phalanx V-1|proximal phalanx of little toe|proximal phalanx of foot digit 5|proximal phalanx of the 5th toe|proximal phalanx of 5th toe|proximal phalanx of fifth toe|predal digit 5 proximal phalanx|fifth proximal phalanx of foot|foot digit 5 proximal phalanx|proximal phalanx of pedal digit V UBERON:0004337 distal phalanx of manual digit 1 biolink:AnatomicalEntity mondo A distal phalanx that is part of a hand digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004337 first distal phalanx of hand|distal phalanx of manual digit I|PDP|manual digit 1 distal phalanx|pollical distal phalanx|distal phalanx of thumb|distal phalanx of first digit of hand|thumb distal phalanx UBERON:0004332 proximal phalanx of pedal digit 1 biolink:AnatomicalEntity mondo A proximal phalanx that is part of a pedal digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004332 pedal phalanx I-1|proximal phalanx of big toe|proximal phalanx of great toe|predal digit 1 proximal phalanx|proximal phalanx of foot digit 1|proximal phalanx of hallux|foot digit 1 proximal phalanx|hallux proximal phalanx|proximal phalanx of pedal digit I|proximal phalanx of the 1st toe HGNC:2529 CTSD biolink:OntologyClass mondo http://identifiers.org/hgnc/2529 HGNC:2528 CTSC biolink:OntologyClass mondo http://identifiers.org/hgnc/2528 CHEBI:23976 ethanediol biolink:ChemicalSubstance mondo Any diol that is ethane or substituted ethane carrying two hydroxy groups. http://purl.obolibrary.org/obo/CHEBI_23976 ethanediols UBERON:0004319 distal phalanx of pedal digit 5 biolink:AnatomicalEntity mondo A distal phalanx that is part of a foot digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004319 5th toe distal phalanx|distal phalanx of foot digit 5|distal phalanx of little toe|distal phalanx of the 5th toe|distal phalanx of 5th toe|distal phalanx of fifth toe|distal phalanx of pedal digit V|distal phalanx of fifth digit of foot|fifth distal phalanx of foot|foot digit 5 distal phalanx NCBITaxon:103829 Thelazioidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_103829 NCBITaxon:103828 Thelaziidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_103828 NCBITaxon:103826 Thelazia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_103826 eyeworms PATO-PROPERTY:increased_in_magnitude_relative_to increased_in_magnitude_relative_to biolink:OntologyClass mondo q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to UBERON:0004327 middle phalanx of pedal digit 5 biolink:AnatomicalEntity mondo A middle phalanx that is part of a pedal digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004327 foot digit 5 intermediate phalanx|5th toe intermediate phalanx|middle phalanx of the 5th toe|middle phalanx of 5th toe|foot digit 5 middle phalanx|5th toe middle phalanx|intermediate phalanx of foot digit 5|intermediate phalanx of 5th toe|middle phalanx of pedal digit V|middle phalanx of foot digit 5|middle phalanx of little toe UBERON:0004323 middle phalanx of manual digit 5 biolink:AnatomicalEntity mondo A middle phalanx that is part of a hand digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004323 5th finger intermediate phalanx|hand digit 5 intermediate phalanx|fifth finger intermediate phalanx|middle phalanx of manual digit V|5th digit of hand middle phalanx|fifth middle phalanx of hand|middle phalanx of little finger|5th finger middle phalanx|intermediate phalanx of fifth finger|hand digit 5 middle phalanx|fifth finger middle phalanx|intermediate phalanx of hand digit 5|intermediate phalanx of 5th finger|middle phalanx of 5th digit of hand|middle phalanx of fifth finger|middle phalanx of 5th finger|middle phalanx of fifth digit of hand|intermediate phalanx of 5th digit of hand|5th digit of hand intermediate phalanx HGNC:2531 CTSF biolink:OntologyClass mondo http://identifiers.org/hgnc/2531 UBERON:0006984 anatomical surface biolink:AnatomicalEntity mondo A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n http://purl.obolibrary.org/obo/UBERON_0006984 RO:0002180 has component biolink:OntologyClass mondo w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/RO_0002180 HGNC:2536 CTSK biolink:OntologyClass mondo http://identifiers.org/hgnc/2536 CHEBI:33306 carbon group element atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33306 cristallogenes|cristallogene|carbon group elements|carbonoides|group IV elements|carbon group element|group 14 elements CHEBI:33308 carboxylic ester biolink:ChemicalSubstance mondo An ester of a carboxylic acid, R(1)C(=O)OR(2), where R(1) = H or organyl and R(2) = organyl. http://purl.obolibrary.org/obo/CHEBI_33308 carboxylic esters|Carboxylic ester|carboxylic acid esters|a carboxylic ester CHEBI:33309 noble gas atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33309 noble gases|noble gas|gas noble|group VIII elements|Edelgas|gases nobles|Edelgase|group 18 elements|gaz noble|inert gases|gaz nobles|rare gases|noble gas CHEBI:33300 pnictogen biolink:ChemicalSubstance mondo Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth. http://purl.obolibrary.org/obo/CHEBI_33300 group 15 elements|group V elements|nitrogenoides|pnictogens|pnictogenes|nitrogenoideos|pnictogene CHEBI:33302 pnictogen molecular entity biolink:ChemicalSubstance mondo A p-block molecular entity containing any pnictogen. http://purl.obolibrary.org/obo/CHEBI_33302 pnictogen molecular entity|pnictogen molecular entities CHEBI:33303 chalcogen biolink:ChemicalSubstance mondo Any p-block element belonging to the group 16 family of the periodic table. http://purl.obolibrary.org/obo/CHEBI_33303 group VI elements|chalcogenes|chalcogene|group 16 elements|anfigeno|Chalkogen|calcogenos|chalcogen|Chalkogene|calcogeno|chalcogens|anfigenos FOODON:00003402 pre-harvest food material biolink:OntologyClass mondo Organic food material which has not reached harvestable maturity. http://purl.obolibrary.org/obo/FOODON_00003402 CHEBI:33304 chalcogen molecular entity biolink:ChemicalSubstance mondo Any p-block molecular entity containing a chalcogen. http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity|chalcogen molecular entities|chalcogen compounds UBERON:0004314 distal phalanx of manual digit 5 biolink:AnatomicalEntity mondo A distal phalanx that is part of a hand digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004314 distal phalanx of fifth finger|distal phalanx of 5th finger|distal phalanx of little finger|distal phalanx of 5th digit of hand|5th digit of hand distal phalanx|distal phalanx of manual digit V|distal phalanx of fifth digit of hand|fifth distal phalanx of hand|5th finger distal phalanx|hand digit 5 distal phalanx|fifth finger distal phalanx UBERON:0004315 distal phalanx of pedal digit 1 biolink:AnatomicalEntity mondo A distal phalanx that is part of a foot digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004315 distal phalanx of first digit of foot|first distal phalanx of foot|distal phalanx of foot digit 1|distal phalanx of pedal digit I|distal phalanx of hallux|foot digit 1 distal phalanx|hallux distal phalanx|distal phalanx of big toe|distal phalanx of great toe GO:0030258 lipid modification biolink:OntologyClass mondo The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. http://purl.obolibrary.org/obo/GO_0030258 RO:0002297 results in formation of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002297 RO:0002295 results in developmental progression of biolink:OntologyClass mondo p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). http://purl.obolibrary.org/obo/RO_0002295 HGNC:29086 CEP135 biolink:OntologyClass mondo http://identifiers.org/hgnc/29086 PATO:0000001 quality biolink:OntologyClass mondo A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities http://purl.obolibrary.org/obo/PATO_0000001 HGNC:30089 PWAR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30089 GO:0030252 growth hormone secretion biolink:OntologyClass mondo The regulated release of growth hormone from secretory granules into the blood. http://purl.obolibrary.org/obo/GO_0030252 somatotropin secretion MONDO:0020393 discrete fibromuscular subaortic stenosis biolink:Disease mondo ICD10:Q24.4|Orphanet:99052 ORPHA:99052 http://purl.obolibrary.org/obo/MONDO_0020393 ordo_clinical_subtype MONDO:0020392 discrete fixed membranous subaortic stenosis biolink:Disease mondo Orphanet:99051|ICD10:Q24.4 ORPHA:99051 http://purl.obolibrary.org/obo/MONDO_0020392 ordo_clinical_subtype MONDO:0020391 pulmonary artery coming from the aorta biolink:Disease mondo Orphanet:99050|ICD10:Q25.7|GARD:0004586 Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life. ORPHA:99050 http://purl.obolibrary.org/obo/MONDO_0020391 hemitruncus arteriosus|abnormal origin of right or left pulmonary artery from the aorta gard_rare|ordo_morphological_anomaly MONDO:0020390 pulmonary artery coming from patent ductus arteriosus biolink:Disease mondo Orphanet:99049|ICD10:Q25.7 ORPHA:99049 http://purl.obolibrary.org/obo/MONDO_0020390 ordo_morphological_anomaly RO:0002286 developmentally succeeded by biolink:OntologyClass mondo Inverse of developmentally preceded by http://purl.obolibrary.org/obo/RO_0002286 RO:0002287 part of developmental precursor of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002287 MONDO:0020399 congenital hypoplasia of the mitral valve annulus biolink:Disease mondo ICD10:Q23.2|SCTID:449270002|UMLS:C3165203|ICD9:746.89|Orphanet:99058 Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome. SNOMEDCT:449270002|ORPHA:99058|UMLS:C3165203 http://purl.obolibrary.org/obo/MONDO_0020399 ordo_morphological_anomaly MONDO:0020398 congenital mitral stenosis (disease) biolink:Disease mondo Orphanet:99057|HP:0011570|ICD9:746.5|ICD10:Q23.2|GARD:0001496|SCTID:82458004 Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure. SNOMEDCT:82458004|ORPHA:99057 http://purl.obolibrary.org/obo/MONDO_0020398 congenital mitral valve stenosis|congenital mitral stenosis|hereditary mitral valve stenosis gard_rare|ordo_morphological_anomaly MONDO:0020397 parachute tricuspid valve biolink:Disease mondo Orphanet:99056|ICD10:Q22.8 Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations. ORPHA:99056 http://purl.obolibrary.org/obo/MONDO_0020397 ordo_morphological_anomaly MONDO:0020396 anomaly of the tricuspid valve chordae biolink:Disease mondo Orphanet:99055|ICD10:Q22.8 Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported. ORPHA:99055 http://purl.obolibrary.org/obo/MONDO_0020396 ordo_morphological_anomaly MONDO:0020395 valvar pulmonary stenosis biolink:Disease mondo Orphanet:99054|ICD10:Q22.1|ICD9:746.02|MedDRA:10037450 A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow). MEDDRA:10037450|ORPHA:99054|MESH:D011666|UMLS:C0034089 http://purl.obolibrary.org/obo/MONDO_0020395 ordo_clinical_subtype RO:0002285 developmentally replaces biolink:OntologyClass mondo x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else http://purl.obolibrary.org/obo/RO_0002285 MONDO:0020394 tunnel subaortic stenosis biolink:Disease mondo Orphanet:99053|ICD10:Q24.4 ORPHA:99053 http://purl.obolibrary.org/obo/MONDO_0020394 ordo_clinical_subtype HGNC:30074 POLR3A biolink:OntologyClass mondo http://identifiers.org/hgnc/30074 HGNC:29099 TELO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29099 HGNC:29092 OBSL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29092 HGNC:29090 SMCHD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29090 OBO:cl#lacks_part lacks_part biolink:OntologyClass mondo http://purl.obolibrary.org/obo/cl#lacks_part HGNC:30078 REEP6 biolink:OntologyClass mondo http://identifiers.org/hgnc/30078 MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus biolink:Disease mondo ICD10:H35.5|SCTID:723408004|Orphanet:99003|UMLS:CN207256 Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. ORPHA:99003|UMLS:CN207256|SNOMEDCT:723408004 http://purl.obolibrary.org/obo/MONDO_0020382 multifocal pattern dystrophy simulating Stargardt disease ordo_disease MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects biolink:Disease mondo ICD10:K90.8|Orphanet:84065 Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea. ORPHA:84065 http://purl.obolibrary.org/obo/MONDO_0019393 idiopathic bile acid malabsorption ordo_disease MONDO:0020381 patterned macular dystrophy biolink:Disease mondo ICD10:H35.5|UMLS:CN207254|UMLS:C4511237|DOID:0060863|Orphanet:99001|SCTID:725590001|OMIMPS:169150 Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. ORPHA:99001|UMLS:CN207254|SNOMEDCT:725590001|UMLS:C4511237|DOID:0060863 http://purl.obolibrary.org/obo/MONDO_0020381 butterfly-shaped pigmentary macular dystrophy|butterfly-shaped pigment dystrophy|butterfly-shaped pattern dystrophy|patterned dystrophy of retinal pigment epithelium|macular dystrophy, patterned ordo_disease MONDO:0019392 syringocystadenoma papilliferum biolink:Disease mondo Orphanet:840|NCIT:C4172|ICDO:8406/0|EFO:1000558|GARD:0005100|SCTID:239121009|UMLS:C0406803|MedDRA:10042926|DOID:5445|ICD10:D23.9 A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative. NCIT:C4172|MEDDRA:10042926|UMLS:C0406803|DOID:5445|ORPHA:840|SNOMEDCT:239121009 http://purl.obolibrary.org/obo/MONDO_0019392 Syringadenoma papilliferum|SCAP|papillary syringocystadenoma|papillary Syringadenoma (syringocystadenoma papilliferum)|fistulous vegetative verrucous hydradenoma|Syringadenoma|naevus syringocystadenomatosus papilliferus|papillary syringadenoma (morphologic abnormality)|syringocystadenoma papilliferum|papillary Syringadenoma ordo_disease HGNC:17084 SYNE2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17084 MONDO:0020380 autosomal dominant cerebellar ataxia biolink:Disease mondo ICD10:G11.8|OMIMPS:164400|UMLS:CN227858|DOID:1441|GARD:0004346|Orphanet:99|ICD9:334.3|SCTID:129609000 Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. SNOMEDCT:129609000|UMLS:CN227858|ORPHA:99|DOID:1441 http://purl.obolibrary.org/obo/MONDO_0020380 cerebellar ataxia, autosomal dominant|SCA|Pierre Marie cerebellar ataxia (formerly)|spinocerebellar ataxia|ADCA|autosomal dominant spinocerebellar ataxia gard_rare|ordo_group_of_disorders MONDO:0019395 Hinman syndrome biolink:Disease mondo ICD10:N32.8|UMLS:C1997362|SCTID:429233001|Orphanet:84085|ICD9:596.59|UMLS:CN206094 Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits. UMLS:CN206094|UMLS:C1997362|SNOMEDCT:429233001|ORPHA:84085 http://purl.obolibrary.org/obo/MONDO_0019395 Hinman-Allen syndrome|non-neurogenic neurogenic bladder|HS|HAS|occult neuropathic bladder ordo_disease MONDO:0019394 Senior-Boichis syndrome biolink:Disease mondo SCTID:717187000|Orphanet:84081|UMLS:CN206093 Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. UMLS:CN206093|SNOMEDCT:717187000|ORPHA:84081 http://purl.obolibrary.org/obo/MONDO_0019394 nephronophthisis-hepatic fibrosis syndrome|Boichis disease ordo_disease MONDO:0019391 Fanconi anemia biolink:Disease mondo DOID:13636|OMIMPS:227650|Orphanet:84|MedDRA:10055206|ICD10:D61.09|UMLS:C0015625|SCTID:30575002|ICD10:D61.0|MESH:D005199|NCIT:C62505|GARD:0006425|ICD9:284.09 Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. DOID:13636|SNOMEDCT:30575002|MESH:D005199|MEDDRA:10055206|ORPHA:84|UMLS:C0015625|NCIT:C62505 http://purl.obolibrary.org/obo/MONDO_0019391 primary erythroid hypoplasia|pancytopenia, congenital|Fanconi pancytopenia|Fanconi's anemia|Fanconi panmyelopathy|Panmyelopathy, Fanconi clingen|ordo_malformation_syndrome MONDO:0019390 Susac syndrome biolink:Disease mondo SCTID:702575003|MedDRA:10071573|EFO:1001856|Orphanet:838|ICD9:348.39|ICD10:I67.7|GARD:0007713|UMLS:C2717757|MESH:D055955|NCIT:C116363 Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear. SNOMEDCT:702575003|UMLS:C2717757|MEDDRA:10071573|NCIT:C116363|MESH:D055955|ORPHA:838 http://purl.obolibrary.org/obo/MONDO_0019390 RED-M|retinopathy-encephalopathy-deafness associated with microangiopathy|SICRET syndrome|Retinocochleocerebral vasculopathy|SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome|small infarctions of cochlear, retinal and encephalic tissue gard_rare|ordo_disease HGNC:17082 MLC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17082 MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome biolink:Disease mondo Orphanet:99048|ICD10:Q22.2|UMLS:CN207270 ORPHA:99048|UMLS:CN207270 http://purl.obolibrary.org/obo/MONDO_0020389 APV/PDA, non-Fallot type|absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome|pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome|PVA/PDA, non-Fallot type ordo_malformation_syndrome PATO:0000025 composition biolink:OntologyClass mondo A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. http://purl.obolibrary.org/obo/PATO_0000025 content|compositionality|composed of|structure, composition MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect biolink:Disease mondo ICD10:Q20.1|Orphanet:99046 ORPHA:99046 http://purl.obolibrary.org/obo/MONDO_0020388 DORV with non-committed subpulmonary VSD ordo_clinical_subtype MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect biolink:Disease mondo UMLS:CN207267|Orphanet:99045|SCTID:448794008|ICD10:Q20.1 SNOMEDCT:448794008|ORPHA:99045|UMLS:CN207267 http://purl.obolibrary.org/obo/MONDO_0020387 DORV with subpulmonary VSD|Double outlet right ventricle with transposition of the great arteries|DORV-TGA|Taussig-Bing syndrome ordo_clinical_subtype MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis biolink:Disease mondo Orphanet:99043|SCTID:253298003|ICD10:Q21.3|ICD10:Q20.1 ORPHA:99043|SNOMEDCT:253298003 http://purl.obolibrary.org/obo/MONDO_0020386 double outlet right ventricle, Fallot type|DORV, Fallot type|DORV with subaortic or doubly committed VSD with pulmonary stenosis ordo_clinical_subtype MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation biolink:Disease mondo Orphanet:99042|ICD10:Q20.3 ORPHA:99042 http://purl.obolibrary.org/obo/MONDO_0020385 TGA with coarctation|congenitally uncorrected transposition of the great vessels with coarctation ordo_clinical_subtype HGNC:29068 KATNIP biolink:OntologyClass mondo http://identifiers.org/hgnc/29068 MONDO:0020384 Niemann-Pick disease type E biolink:Disease mondo Orphanet:99022|SCTID:73399005|ICD10:E75.2 Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease. UMLS:C0268248|ORPHA:99022|SNOMEDCT:73399005 http://purl.obolibrary.org/obo/MONDO_0020384 ordo_disease MONDO:0020383 fundus pulverulentus biolink:Disease mondo ICD10:H35.5|UMLS:CN207257|Orphanet:99004 Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported. ORPHA:99004|UMLS:CN207257 http://purl.obolibrary.org/obo/MONDO_0020383 ordo_disease MONDO:0400004 phrynoderma biolink:Disease mondo Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks. http://purl.obolibrary.org/obo/MONDO_0400004 MONDO:0400005 refeeding syndrome biolink:Disease mondo Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally). http://purl.obolibrary.org/obo/MONDO_0400005 MONDO:0400002 calcium-alkali syndrome biolink:Disease mondo The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency. http://purl.obolibrary.org/obo/MONDO_0400002 milk-alkali syndrome MONDO:0400003 skeletal fluorosis biolink:Disease mondo A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain. http://purl.obolibrary.org/obo/MONDO_0400003 fluorosis of the skeleton MONDO:0400000 small intestinal bacterial overgrowth biolink:Disease mondo The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity. http://purl.obolibrary.org/obo/MONDO_0400000 SIBO MONDO:0019397 unknown leukodystrophy biolink:Disease mondo Orphanet:84096|ICD10:E75.2 ORPHA:84096 http://purl.obolibrary.org/obo/MONDO_0019397 ordo_disease GO:0032892 positive regulation of organic acid transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0032892 upregulation of organic acid transport|up regulation of organic acid transport|stimulation of organic acid transport|up-regulation of organic acid transport|activation of organic acid transport HGNC:17089 SYNE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17089 GO:0032891 negative regulation of organic acid transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0032891 down regulation of organic acid transport|inhibition of organic acid transport|down-regulation of organic acid transport|downregulation of organic acid transport MONDO:0019396 collagen type III glomerulopathy biolink:Disease mondo ICD10:N07.6|Orphanet:84087|ICD9:583.89|UMLS:C3872695|UMLS:CN206095|SCTID:708127008 Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. UMLS:CN206095|UMLS:C3872695|SNOMEDCT:708127008|ORPHA:84087 http://purl.obolibrary.org/obo/MONDO_0019396 Collagenofibrotic glomerulopathy ordo_disease GO:0032890 regulation of organic acid transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0032890 MONDO:0019399 Isaac syndrome biolink:Disease mondo UMLS:C0751919|GARD:0006793|SCTID:305719002|Orphanet:84142|UMLS:CN206101|ICD10:G71.1 Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. ORPHA:84142|UMLS:CN206101|UMLS:C0751919|SNOMEDCT:305719002 http://purl.obolibrary.org/obo/MONDO_0019399 Isaac's-Merten's syndrome|Isaac-Mertens syndrome|Isaacs' syndrome|Quantal squander syndrome|acquired neuromyotonia|neuromyotonia|peripheral nerve hyperexcitability|continuous muscle fiber activity syndrome ordo_disease MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions biolink:Disease mondo Orphanet:84132|ICD10:G71.8 ORPHA:84132 http://purl.obolibrary.org/obo/MONDO_0019398 early-onset desmin-related myopathy ordo_disease MONDO:0019382 obsolete Colorado tick fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019382 MONDO:0020371 essential iris atrophy biolink:Disease mondo Orphanet:98981|UMLS:C0271111|ICD9:364.51|ICD10:H21.2|UMLS:CN207238|SCTID:25913001 Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease. UMLS:C0271111|ORPHA:98981|UMLS:CN207238|SNOMEDCT:25913001 http://purl.obolibrary.org/obo/MONDO_0020371 ordo_clinical_subtype MONDO:0020370 Cogan-Reese syndrome biolink:Disease mondo UMLS:C1168173|NCIT:C84644|DOID:0060217|ICD10:H21.2|Orphanet:98980|SCTID:404633004|MedDRA:10059200|GARD:0006125 Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease. NCIT:C84644|MEDDRA:10059200|SNOMEDCT:404633004|ORPHA:98980|UMLS:C1168173|DOID:0060217 http://purl.obolibrary.org/obo/MONDO_0020370 gard_rare|ordo_clinical_subtype MONDO:0019381 obsolete eastern equine encephalitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019381 HGNC:17095 LARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17095 MONDO:0019384 encephalitis lethargica biolink:Disease mondo ICD9:049.8|DOID:5225|GARD:0006332|ICD10:A85.8|MedDRA:10052369|UMLS:C0014040|SCTID:186499007|NCIT:C34576|NCIT:C26761|Orphanet:83600 A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache. NCIT:C34576|SNOMEDCT:186499007|ORPHA:83600|NCIT:C26761|UMLS:C0014040|DOID:5225|MEDDRA:10052369 http://purl.obolibrary.org/obo/MONDO_0019384 Von Economo’s disease|encephalitis lethargica|Von Economo encephalitis|epidemic encephalitis|von Economo disease|lethargic encephalitis|von Economo's disease historic_epidemic|ordo_disease HGNC:17098 DICER1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17098 MONDO:0019383 acute disseminated encephalomyelitis biolink:Disease mondo GARD:0008639|ICD9:136.9|Orphanet:83597|NCIT:C34578|DOID:639|COHD:374021|MESH:D004673|UMLS:C0014059|EFO:0007130|ICD10:G04.0|SCTID:83942000 Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system. NCIT:C34578|ORPHA:83597|MESH:D004673|UMLS:C0014059|SNOMEDCT:83942000|DOID:639 http://purl.obolibrary.org/obo/MONDO_0019383 ADE|acute disseminated encephalitis|ADEM|acute disseminated encephalomyelitis gard_rare|ordo_disease HGNC:17091 NCSTN biolink:OntologyClass mondo http://identifiers.org/hgnc/17091 MONDO:0019380 western equine encephalitis biolink:Disease mondo EFO:0007546|NCIT:C85227|ICD10:A83.1|GARD:0007888|SCTID:47523006|Orphanet:83593|MESH:D020241|UMLS:C0153064|MedDRA:10014614|ICD9:062.1|DOID:10843 An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders. ORPHA:83593|NCIT:C85227|UMLS:C0153064|MEDDRA:10014614|MESH:D020241|DOID:10843|SNOMEDCT:47523006 http://purl.obolibrary.org/obo/MONDO_0019380 Western equine encephalitis virus caused infectious encephalitis|Western equine encephalitis virus infectious encephalitis|WEE|Western equine encephalomyelitis ordo_disease|gard_rare GO:0030224 monocyte differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. http://purl.obolibrary.org/obo/GO_0030224 monocyte cell differentiation GO:0030225 macrophage differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. http://purl.obolibrary.org/obo/GO_0030225 macrophage cell differentiation GO:0032886 regulation of microtubule-based process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton. http://purl.obolibrary.org/obo/GO_0032886 MONDO:0020379 early-onset zonular cataract biolink:Disease mondo Orphanet:98995|ICD10:Q12.0|UMLS:CN207251|GARD:0001898 MESH:C535342|UMLS:CN207251|ORPHA:98995 http://purl.obolibrary.org/obo/MONDO_0020379 gard_rare|ordo_clinical_subtype RO:0002264 acts upstream of or within biolink:OntologyClass mondo c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process. http://purl.obolibrary.org/obo/RO_0002264 affects MONDO:0020378 early-onset posterior polar cataract biolink:Disease mondo Orphanet:98993|ICD10:Q12.0 ORPHA:98993 http://purl.obolibrary.org/obo/MONDO_0020378 ordo_clinical_subtype MONDO:0020377 early-onset partial cataract biolink:Disease mondo ICD10:Q12.0|Orphanet:98992|UMLS:CN207248 ORPHA:98992|UMLS:CN207248 http://purl.obolibrary.org/obo/MONDO_0020377 ordo_clinical_subtype MONDO:0020376 early-onset nuclear cataract biolink:Disease mondo UMLS:CN207247|ICD10:Q12.0|Orphanet:98991|MedDRA:10057735|MedDRA:10007759|MESH:C563333 MESH:C563333|MEDDRA:10057735|UMLS:C1112705|UMLS:C0392557|MEDDRA:10007759|UMLS:CN207247|ORPHA:98991 http://purl.obolibrary.org/obo/MONDO_0020376 ordo_clinical_subtype MONDO:0020375 coralliform cataract biolink:Disease mondo UMLS:CN207246|Orphanet:98990|ICD10:Q12.0 UMLS:CN207246|ORPHA:98990 http://purl.obolibrary.org/obo/MONDO_0020375 ordo_clinical_subtype MONDO:0020374 cerulean cataract biolink:Disease mondo ICD10:Q12.0|SCTID:204138006|GARD:0009508|ICD9:743.39|MESH:C537955|Orphanet:98989 Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens. SNOMEDCT:204138006|ORPHA:98989|MESH:C537955 http://purl.obolibrary.org/obo/MONDO_0020374 cataract, congenital, blue dot type 1|cataract, congenital, cerulean type 1|blue-dot cataract ordo_clinical_subtype HGNC:29079 KDM1A biolink:OntologyClass mondo http://identifiers.org/hgnc/29079 MONDO:0020373 early-onset anterior polar cataract biolink:Disease mondo ICD10:Q12.0|UMLS:C1855179|Orphanet:98988|GARD:0001140 MESH:C538282|UMLS:C1855179|ORPHA:98988 http://purl.obolibrary.org/obo/MONDO_0020373 cataract anterior polar|early-onset anterior subcapsular cataract ordo_clinical_subtype MONDO:0020372 early-onset sutural cataract biolink:Disease mondo ICD10:Q12.0|Orphanet:98985 ORPHA:98985 http://purl.obolibrary.org/obo/MONDO_0020372 early-onset cataract with Y-shaped suture opacities ordo_clinical_subtype RO:0002263 acts upstream of biolink:OntologyClass mondo c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes. http://purl.obolibrary.org/obo/RO_0002263 HGNC:29077 IFT140 biolink:OntologyClass mondo http://identifiers.org/hgnc/29077 PATO:0000033 concentration of biolink:OntologyClass mondo A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. http://purl.obolibrary.org/obo/PATO_0000033 concentration RO:0002257 developmentally induces biolink:OntologyClass mondo Inverse of developmentally induced by http://purl.obolibrary.org/obo/RO_0002257 RO:0002258 developmentally preceded by biolink:OntologyClass mondo Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p http://purl.obolibrary.org/obo/RO_0002258 MONDO:0020369 Chandler syndrome biolink:Disease mondo ICD10:H18.51|DOID:11554|ICD10:H21.2|UMLS:C0544008|GARD:0006033|Orphanet:98979|ICD9:371.57|MedDRA:10057487 Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy. ORPHA:98979|MEDDRA:10057487|DOID:11554|UMLS:C0544008 http://purl.obolibrary.org/obo/MONDO_0020369 Chandler's syndrome|posterior membrane corneal dystrophy|dystrophy of corneal endothelium|endothelial corneal dystrophy ordo_clinical_subtype MONDO:0019389 obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome biolink:Disease mondo ICD10:Q87.0|Orphanet:83648|UMLS:CN227624 ORPHA:83648|UMLS:CN227624 http://purl.obolibrary.org/obo/MONDO_0019389 GO:0030221 basophil differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. http://purl.obolibrary.org/obo/GO_0030221 basophil cell differentiation MONDO:0019386 progressive rubella panencephalitis biolink:Disease mondo SCTID:10082001|ICD10:B06.0+|Orphanet:83616|UMLS:C1305924|ICD10:G05.1*|https://en.wikipedia.org/wiki/Progressive_rubella_panencephalitis A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age. ORPHA:83616|SNOMEDCT:10082001|UMLS:C1305924 http://purl.obolibrary.org/obo/MONDO_0019386 rubella panencephalitis ordo_disease GO:0032881 regulation of polysaccharide metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides. http://purl.obolibrary.org/obo/GO_0032881 MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis biolink:Disease mondo MESH:C535841|UMLS:C0393639|GARD:0008570|Orphanet:83601|ICD10:G04.8 ORPHA:83601|MESH:C535841|UMLS:C0393639 http://purl.obolibrary.org/obo/MONDO_0019385 Hashimoto encephalitis|SREAT|steroid-responsive encephalopathy associated with thyroid disease|Hashimoto's encephalopathy|Hashimoto's encephalitis ordo_disease GO:0032880 regulation of protein localization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0032880 regulation of protein localisation MONDO:0019388 pelvis syndrome biolink:Disease mondo UMLS:C4510867|Orphanet:83628|SCTID:725138002|ICD10:Q87.8|UMLS:CN206083 PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported. SNOMEDCT:725138002|UMLS:CN206083|ORPHA:83628|UMLS:C4510867 http://purl.obolibrary.org/obo/MONDO_0019388 lumbar syndrome|Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome|perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome|urorectal septum malformation sequence ordo_malformation_syndrome MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome biolink:Disease mondo UMLS:CN206081|Orphanet:83619|ICD10:Q87.0 Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant. UMLS:CN206081|ORPHA:83619 http://purl.obolibrary.org/obo/MONDO_0019387 ordo_malformation_syndrome HGNC:17063 RAB3GAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17063 GO:0030219 megakaryocyte differentiation biolink:OntologyClass mondo The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. http://purl.obolibrary.org/obo/GO_0030219 megakaryocyte cell differentiation GO:0030217 T cell differentiation biolink:OntologyClass mondo The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/GO_0030217 T cell development|T-cell differentiation|T lymphocyte differentiation|T-lymphocyte differentiation GO:0030218 erythrocyte differentiation biolink:OntologyClass mondo The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. http://purl.obolibrary.org/obo/GO_0030218 erythropoiesis|erythrocyte cell differentiation|red blood cell differentiation|RBC differentiation GO:0032879 regulation of localization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0032879 regulation of localisation GO:0030216 keratinocyte differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. http://purl.obolibrary.org/obo/GO_0030216 keratinocyte cell differentiation MONDO:0044335 benign soft tissue neoplasm biolink:Disease mondo UMLS:C0334450|ICDO:8800/0|SCTID:92069005|NCIT:C4242 A non-metastasizing neoplasm that arises from the soft tissue. SNOMEDCT:92069005|NCIT:C4242|UMLS:C0334450 http://purl.obolibrary.org/obo/MONDO_0044335 benign neoplasm of the soft tissue|benign neoplasm of soft tissue|benign tumor of the soft tissue|benign soft tissue tumor|benign tumor of soft tissue|soft tissue neoplasm, benign|benign soft tissue neoplasm MONDO:0044334 connective and soft tissue neoplasm biolink:Disease mondo NCIT:C3810 A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. NCIT:C3810 http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm|soft tissue and bone neoplasm|tumor of soft tissue and skeleton|tumor of skeletal and soft tissue|neoplasm of soft tissue and bone|soft tissue and bone tumor|connective and soft tissue tumor|skeletal and soft tissue neoplasm|musculoskeletal and soft tissue neoplasm|neoplasm of skeletal and soft tissue|neoplasm of soft tissue and skeleton|skeletal and soft tissue tumor|tumor of soft tissue and bone|musculoskeletal and soft tissue tumor RO:0002254 has developmental contribution from biolink:OntologyClass mondo x has developmental contribution from y iff x has some part z such that z develops from y http://purl.obolibrary.org/obo/RO_0002254 MONDO:0044337 stromal sarcoma biolink:Disease mondo ICDO:8935/3|UMLS:C1370723|NCIT:C6926 A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma. UMLS:C1370723|NCIT:C6926 http://purl.obolibrary.org/obo/MONDO_0044337 stromal sarcoma, malignant|stromal tumor, malignant|stromal sarcoma RO:0002255 developmentally_contributes_to biolink:OntologyClass mondo inverse of has developmental contribution from http://purl.obolibrary.org/obo/RO_0002255 MONDO:0044336 colorectal signet ring cell carcinoma biolink:Disease mondo UMLS:C1707440|NCIT:C43586 An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate. NCIT:C43586|UMLS:C1707440 http://purl.obolibrary.org/obo/MONDO_0044336 colorectal signet Ring cell carcinoma RO:0002256 developmentally induced by biolink:OntologyClass mondo t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T. http://purl.obolibrary.org/obo/RO_0002256 MONDO:0044331 genetic transient congenital hypothyroidism biolink:Disease mondo ICD10:P72.2|Orphanet:226316 An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome. ORPHA:226316 http://purl.obolibrary.org/obo/MONDO_0044331 hereditary transient congenital hypothyroidism ordo_disease MONDO:0044330 hyperekplexia 4 biolink:Disease mondo UMLS:CN248518|OMIM:618011 Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400). UMLS:CN248518|http://identifiers.org/omim/618011 http://purl.obolibrary.org/obo/MONDO_0044330 HKPX4|hyperekplexia 4; HKPX4 MONDO:0044333 alcohol-induced Wernicke-Korsakoff's syndrome biolink:Disease mondo NCIT:C34366 A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues. NCIT:C34366 http://purl.obolibrary.org/obo/MONDO_0044333 alcohol-induced Wernicke-Korsakoff's syndrome|alcohol-induced amnestic syndrome|alcoholic Korsakoff's psychosis MONDO:0044332 childhood-onset benign chorea with striatal involvement biolink:Disease mondo Orphanet:494541 ORPHA:494541 http://purl.obolibrary.org/obo/MONDO_0044332 ordo_disease HGNC:29043 DSTYK biolink:OntologyClass mondo http://identifiers.org/hgnc/29043 MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly biolink:Disease mondo OMIM:617925|UMLS:CN902090 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). UMLS:CN902090|http://identifiers.org/omim/617925 http://purl.obolibrary.org/obo/MONDO_0044328 SRTD20|short-rib thoracic dysplasia 20 with polydactyly; SRTD20 MONDO:0044327 polycystic liver disease 4 with or without kidney cysts biolink:Disease mondo OMIM:617875|UMLS:CN818987 PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure. http://identifiers.org/omim/617875|UMLS:CN818987 http://purl.obolibrary.org/obo/MONDO_0044327 PCLD4|polycystic liver disease 4 with or without kidney cysts; PCLD4 MONDO:0044329 osteogenesis imperfecta, type 18 biolink:Disease mondo UMLS:CN244563|OMIM:617952 Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}). http://identifiers.org/omim/617952|UMLS:CN244563 http://purl.obolibrary.org/obo/MONDO_0044329 OI18|osteogenesis imperfecta, type XVIII; OI18 HGNC:29040 SZT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29040 GO:0030212 hyaluronan metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. http://purl.obolibrary.org/obo/GO_0030212 hyaluronan metabolism GO:0030210 heparin biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/GO_0030210 heparin anabolism|heparan sulfate biosynthetic process|heparin synthesis|heparin formation|heparin biosynthesis GO:0032870 cellular response to hormone stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/GO_0032870 HGNC:17068 PALLD biolink:OntologyClass mondo http://identifiers.org/hgnc/17068 HGNC:17073 ARHGAP26 biolink:OntologyClass mondo http://identifiers.org/hgnc/17073 GO:0032869 cellular response to insulin stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/GO_0032869 GO:0032868 response to insulin biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/GO_0032868 response to insulin stimulus HGNC:17075 TAB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17075 GO:0030202 heparin metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/GO_0030202 heparin metabolism|heparan sulfate metabolic process GO:0030203 glycosaminoglycan metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties. http://purl.obolibrary.org/obo/GO_0030203 glycosaminoglycan metabolism MONDO:0044346 echinococcus granulosus infectious disease biolink:Disease mondo SCTID:75006000|UMLS:C0152068|ICD9:122.4|ICD9:122.3 An disease or disorder caused by infection with Echinococcus granulosus. UMLS:C0152068|SNOMEDCT:75006000 http://purl.obolibrary.org/obo/MONDO_0044346 Echinococcus granulosus caused disease or disorder|echinococcus granulosus infection|unilocular hydatid disease|Echinococcus granulosus disease or disorder|echinococcus granulosus infectious disease|Echinococcus granulosus infectious disease MONDO:0044345 Schistosoma mansoni infectious disease biolink:Disease mondo SCTID:750009|MESH:D012555|NCIT:C35002 An infection that is caused by Schistosoma mansoni. NCIT:C35002|SNOMEDCT:750009|MESH:D012555 http://purl.obolibrary.org/obo/MONDO_0044345 Schistosoma mansoni infection|Schistosoma mansoni disease or disorder|Schistosoma mansoni caused disease or disorder MONDO:0044348 hemoglobinopathy biolink:Disease mondo ICD9:282.7|SCTID:80141007 SNOMEDCT:80141007 http://purl.obolibrary.org/obo/MONDO_0044348 globin abnormality|hemoglobin disease|hemoglobinopathy|hemoglobin disorder RO:0002244 related via exposure to biolink:OntologyClass mondo Any relationship between an exposure event or process and any other entity. http://purl.obolibrary.org/obo/RO_0002244 MONDO:0044347 erythrocyte disease biolink:Disease mondo SCTID:38292009|UMLS:C0221016|ICD9:289.9 A disease or disorder that involves the erythrocyte. UMLS:C0221016|SNOMEDCT:38292009 http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease or disorder|red blood cell disorder|disease of erythrocyte|disorder of erythrocyte|disorder of erythrocyte|red blood cell disease|disease or disorder of erythrocyte|erythrocyte disease GO:0005262 calcium channel activity biolink:OntologyClass mondo Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/GO_0005262 MONDO:0044342 thoracic disc degenerative disorder biolink:Disease mondo SCTID:68675004|UMLS:C0263872|NCIT:C27155 Any degenerative disorder affecting one or more vertebral discs of the thoracic spine. UMLS:C0263872|SNOMEDCT:68675004|NCIT:C27155 http://purl.obolibrary.org/obo/MONDO_0044342 thoracic region of vertebral column intervertebral disc degenerative disorder|thoracic Disc degenerative disorder|degeneration of thoracic intervertebral disc|thoracic Disc Degeneration|thoracic Disc degenerative disease|intervertebral disc degenerative disorder of thoracic region of vertebral column MONDO:0044344 Schistosoma japonicum infectious disease biolink:Disease mondo SCTID:268058007|MESH:D012554|NCIT:C35001 An infection that is caused by Schistosoma japonicum. SNOMEDCT:268058007|NCIT:C35001|MESH:D012554 http://purl.obolibrary.org/obo/MONDO_0044344 Katayama disease|Schistosoma japonicum infection|Asiatic schistosomiasis|Schistosoma japonicum disease or disorder|schistosomiasis japonicum|Katamaya fever|Katamaya syndrome|Schistosoma japonicum caused disease or disorder CHEBI:149552 emetic biolink:ChemicalSubstance mondo Any agent that induces nausea and vomiting. http://purl.obolibrary.org/obo/CHEBI_149552 emetics GO:0005261 cation channel activity biolink:OntologyClass mondo Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient. http://purl.obolibrary.org/obo/GO_0005261 non-selective cation channel activity|cation diffusion facilitator activity MONDO:0044343 cervical disc degenerative disorder biolink:Disease mondo UMLS:C0158262|UMLS:C0410606|NCIT:C27156|SCTID:69195002 Any degenerative disorder affecting one or more vertebral discs of the cervical spine. SNOMEDCT:69195002|UMLS:C0158262|UMLS:C0410606|NCIT:C27156 http://purl.obolibrary.org/obo/MONDO_0044343 cervical Disc degenerative disease|intervertebral disc degenerative disorder of cervical region of vertebral column|cervical region of vertebral column intervertebral disc degenerative disorder|degeneration of cervical intervertebral disc|cervical Disc degenerative disorder|cervical Disc Degeneration HGNC:29059 IQSEC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29059 MONDO:0044339 lumbar disc degenerative disorder biolink:Disease mondo MESH:C535531|EFO:0004994|NCIT:C27154|SCTID:26538006|OMIM:603932 Any degenerative disorder affecting one or more vertebral discs of the lumbar spine. MESH:C535531|NCIT:C27154|http://identifiers.org/omim/603932|SNOMEDCT:26538006 http://purl.obolibrary.org/obo/MONDO_0044339 lumbar disc degeneration, susceptibility to|lumbar Disc degenerative disease|IDD|lumbar Disc degenerative disorder|lumbar region of vertebral column intervertebral disc degenerative disorder|degenerative disc disease|lumbar disc disease|degenerative disc disorder|intervertebral DISC disease; IDD|lumbar Disc Degeneration|intervertebral disc degenerative disorder of lumbar region of vertebral column|lumbar disc herniation, susceptibility to|degeneration of lumbar intervertebral disc|intervertebral disc disease MONDO:0044338 autoimmune primary ovarian failure biolink:Disease mondo ICD9:256.39|UMLS:C0342508|ICD9:279.49|SCTID:237790001 An autoimmune form of primary ovarian failure. UMLS:C0342508|SNOMEDCT:237790001 http://purl.obolibrary.org/obo/MONDO_0044338 primary ovarian failure arising through autoimmunity HGNC:32698 DUOXA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/32698 HGNC:30035 PIK3R5 biolink:OntologyClass mondo http://identifiers.org/hgnc/30035 HGNC:30032 PACS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30032 MONDO:0044351 Schistosoma intercalatum infectious disease biolink:Disease mondo UMLS:C0276932|SCTID:52179003|ICD9:120.8|NCIT:C35364 An disease or disorder caused by infection with Schistosoma intercalatum. NCIT:C35364|SNOMEDCT:52179003|UMLS:C0276932 http://purl.obolibrary.org/obo/MONDO_0044351 Schistosoma intercalatum disease or disorder|infection by Schistosoma intercalatum|Schistosoma intercalatum caused disease or disorder|infection caused by Schistosoma intercalatum HGNC:17043 NIPA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17043 MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia biolink:Disease mondo MESH:C563982|OMIM:600166 MESH:C563982|http://identifiers.org/omim/600166 http://purl.obolibrary.org/obo/MONDO_0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia HGNC:17042 PUF60 biolink:OntologyClass mondo http://identifiers.org/hgnc/17042 RO:0002231 has start location biolink:OntologyClass mondo x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y http://purl.obolibrary.org/obo/RO_0002231 RO:0002232 has end location biolink:OntologyClass mondo x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y http://purl.obolibrary.org/obo/RO_0002232 RO:0002233 has input biolink:OntologyClass mondo p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. http://purl.obolibrary.org/obo/RO_0002233 GO:0005231 excitatory extracellular ligand-gated ion channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. http://purl.obolibrary.org/obo/GO_0005231 RO:0002234 has output biolink:OntologyClass mondo p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p. http://purl.obolibrary.org/obo/RO_0002234 GO:0005230 extracellular ligand-gated ion channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts. http://purl.obolibrary.org/obo/GO_0005230 MONDO:0044355 isolated sternocostoclavicular hyperostosis biolink:Disease mondo SCTID:766711009|UMLS:C0020499|ICD10:M85.8|Orphanet:178311 Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. UMLS:C0020499|SNOMEDCT:766711009|ORPHA:178311 http://purl.obolibrary.org/obo/MONDO_0044355 isolated SCCH ordo_disease HGNC:20692 TPH2 biolink:OntologyClass mondo http://identifiers.org/hgnc/20692 MONDO:0044354 Rosai-Dorfman disease biolink:Disease mondo ICD10:D76.3|MedDRA:10063397|Orphanet:158014|ONCOTREE:RDD Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia. ORPHA:158014 http://purl.obolibrary.org/obo/MONDO_0044354 Rosaï-Dorfman disease|sinus histiocytosis with massive lymphadenopathy|RosaC/-Dorfman-Destombes disease|Destombes-Rosaï-Dorfman disease|Rosaï-Dorfman-Destombes disease|SHML|Destombes-RosaC/-Dorfman disease ordo_disease RO:0002230 ends with biolink:OntologyClass mondo x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/RO_0002230 RO:0002229 ends biolink:OntologyClass mondo Relation between occurrents, shares an end boundary with. http://purl.obolibrary.org/obo/RO_0002229 finishes HGNC:29021 CEP290 biolink:OntologyClass mondo http://identifiers.org/hgnc/29021 HGNC:29022 SPECC1L biolink:OntologyClass mondo http://identifiers.org/hgnc/29022 RO:0002224 starts with biolink:OntologyClass mondo x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/RO_0002224 MONDO:0044349 acquired hemoglobinopathy biolink:Disease mondo UMLS:C1263995|SCTID:127039000 An instance of hemoglobinopathy that is acquired during the lifetime of the individual. UMLS:C1263995|SNOMEDCT:127039000 http://purl.obolibrary.org/obo/MONDO_0044349 acquired hemoglobinopathy RO:0002225 develops from part of biolink:OntologyClass mondo x develops from part of y if and only if there exists some z such that x develops from z and z is part of y http://purl.obolibrary.org/obo/RO_0002225 RO:0002226 develops in biolink:OntologyClass mondo x develops_in y if x is located in y whilst x is developing http://purl.obolibrary.org/obo/RO_0002226 HGNC:32689 SLFN14 biolink:OntologyClass mondo http://identifiers.org/hgnc/32689 HGNC:32685 ARMS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/32685 HGNC:30022 PPARGC1B biolink:OntologyClass mondo http://identifiers.org/hgnc/30022 GO:0005244 voltage-gated ion channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/GO_0005244 voltage-dependent ion channel activity|voltage gated ion channel activity RO:0002220 adjacent to biolink:OntologyClass mondo x adjacent to y if and only if x and y share a boundary. http://purl.obolibrary.org/obo/RO_0002220 RO:0002221 surrounds biolink:OntologyClass mondo inverse of surrounded_by http://purl.obolibrary.org/obo/RO_0002221 RO:0002222 temporally related to biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002222 RO:0002223 starts biolink:OntologyClass mondo inverse of starts with http://purl.obolibrary.org/obo/RO_0002223 NCBITaxon:260964 Henipavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_260964 GO:0005243 gap junction channel activity biolink:OntologyClass mondo A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes. http://purl.obolibrary.org/obo/GO_0005243 innexin|connexin|intercellular channel|innexin channel activity NCBITaxon:260963 Avulavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_260963 RO:0002217 actively participates in biolink:OntologyClass mondo x actively participates in y if and only if x participates in y and x realizes some active role http://purl.obolibrary.org/obo/RO_0002217 RO:0002218 obsolete has active participant biolink:OntologyClass mondo x has participant y if and only if x realizes some active role that inheres in y http://purl.obolibrary.org/obo/RO_0002218 RO:0002219 surrounded_by biolink:OntologyClass mondo x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x http://purl.obolibrary.org/obo/RO_0002219 GO:0019889 pteridine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving pteridine, pyrazino(2,3-dipyrimidine), the parent structure of pterins and the pteroyl group. http://purl.obolibrary.org/obo/GO_0019889 pteridine metabolism RO:0002213 positively regulates biolink:OntologyClass mondo Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2. http://purl.obolibrary.org/obo/RO_0002213 RO:0002215 capable_of biolink:OntologyClass mondo A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. http://purl.obolibrary.org/obo/RO_0002215 RO:0002216 capable of part of biolink:OntologyClass mondo c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. http://purl.obolibrary.org/obo/RO_0002216 GO:0019882 antigen processing and presentation biolink:OntologyClass mondo The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. http://purl.obolibrary.org/obo/GO_0019882 antigen processing|antigen presentation HGNC:17057 CARD8 biolink:OntologyClass mondo http://identifiers.org/hgnc/17057 HP:0100886 Abnormality of globe location biolink:PhenotypicFeature mondo UMLS:C4021946 An abnormality in the placement of the ocular globe (eyeball). http://purl.obolibrary.org/obo/HP_0100886 Abnormality of globe position|Abnormality of eyeball position|Abnormality of eyeball location HP:0100887 Abnormality of globe size biolink:PhenotypicFeature mondo UMLS:C4021945 An abnormality in the size of the ocular globe (eyeball). http://purl.obolibrary.org/obo/HP_0100887 Abnormality of eyeball size|Eye size difference HGNC:20672 PHF8 biolink:OntologyClass mondo http://identifiers.org/hgnc/20672 MONDO:0022981 die Smulders droog van dijk syndrome biolink:Disease mondo GARD:0001857 http://purl.obolibrary.org/obo/MONDO_0022981 gard_rare HGNC:17020 IRAK3 biolink:OntologyClass mondo http://identifiers.org/hgnc/17020 MONDO:0022982 die Smulders Vles Fryns syndrome biolink:Disease mondo GARD:0001858 http://purl.obolibrary.org/obo/MONDO_0022982 gard_rare MONDO:0022983 Dieterich disease biolink:Disease mondo GARD:0000204|UMLS:C2931124|MESH:C536172 MESH:C536172|UMLS:C2931124 http://purl.obolibrary.org/obo/MONDO_0022983 Dieterich disease|avascular necrosis of the metacarpal head|Dieterich's disease gard_rare MONDO:0007348 obsolete colchicine resistance biolink:Disease mondo UMLS:C1861502|OMIM:120080 http://identifiers.org/omim/120080|UMLS:C1861502 http://purl.obolibrary.org/obo/MONDO_0007348 colchicine sensitivity|colchicine resistance MONDO:0022985 diffuse cavernous hemangioma of the rectum biolink:Disease mondo GARD:0010750 http://purl.obolibrary.org/obo/MONDO_0022985 cavernous haemangioma of the rectum gard_rare NCBITaxon:42408 Neotoma albigula organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42408 white-throated woodrat MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia biolink:Disease mondo NCIT:C7437|UMLS:C1333291|GARD:0010780 A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor. NCIT:C7437|UMLS:C1333291 http://purl.obolibrary.org/obo/MONDO_0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia|DIPNECH|DIP-NECH gard_rare MONDO:0007349 familial cold autoinflammatory syndrome 1 biolink:Disease mondo DOID:0090062|ICD10:L50.2|OMIM:120100|SCTID:238687000 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene. http://identifiers.org/omim/120100|SNOMEDCT:238687000|DOID:0090062 http://purl.obolibrary.org/obo/MONDO_0007349 familial cold autoinflammatory syndrome caused by mutation in NLRP3|familial cold autoinflammatory syndrome type 1|familial cold autoinflammatory syndrome 1; FCAS1|cold urticaria, familial|Cryopyrin-associated periodic syndrome 1|cold hypersensitivity|Fcas|cold-induced autoinflammatory syndrome, familial|familial cold autoinflammatory syndrome 1|NLRP3 familial cold autoinflammatory syndrome|FCAS1 NCBITaxon:42407 Neotoma organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42407 trade rats|pack rats|wood rats MONDO:0007346 cochleosaccular degeneration-cataract syndrome biolink:Disease mondo MESH:C536432|Orphanet:3233|OMIM:120040|SCTID:715528001|GARD:0009418|UMLS:C1861512 Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. http://identifiers.org/omim/120040|ORPHA:3233|SNOMEDCT:715528001|UMLS:C1861512|MESH:C536432 http://purl.obolibrary.org/obo/MONDO_0007346 Cochleosaccular Degeneration|Cochleosaccular degeneration of the inner ear and progressive cataracts|COCHLEOSACCULAR degeneration with progressive cataracts|Cochleosaccular Degeneration of the inner Ear with progressive cataracts gard_rare|ordo_malformation_syndrome MONDO:0010998 ALG3-CDG biolink:Disease mondo SCTID:720976009|UMLS:C1832736|NCIT:C126870|OMIM:601110|MESH:C535742|GARD:0009827|ICD10:E77.8|Orphanet:79321 (3q27.3). UMLS:C1832736|SNOMEDCT:720976009|ORPHA:79321|MESH:C535742|NCIT:C126870|http://identifiers.org/omim/601110 http://purl.obolibrary.org/obo/MONDO_0010998 CDG1D|CDG 1D|CDGS4 (formerly)|carbohydrate-deficient glycoprotein syndrome type IV (formerly)|CDG Id|CDG syndrome type Id|Cdgs, type IV, formerly|congenital disorder of glycosylation type Id|Cdgs, type IV|CDGId|congenital disorder of glycosylation, type Id; CDG1D|mannosyltransferase 6 deficiency|congenital disorder of glycosylation, type Id|carbohydrate-deficient glycoprotein syndrome, type IV, formerly|congenital disorder of glycosylation type 1d|carbohydrate deficient glycoprotein syndrome type Id|carbohydrate-deficient glycoprotein syndrome, type IV|CDG-Id|ALG3-CDG (CDG-Id) ordo_disease MONDO:0020324 intravascular large B-cell lymphoma biolink:Disease mondo ICDO:9712/3|MedDRA:10069643|SCTID:255102004|NCIT:C4342|ICD10:C83.3|UMLS:CN207146|ICD9:202.80|ONCOTREE:IVBCL|Orphanet:98839 Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis. UMLS:CN207146|ORPHA:98839|MEDDRA:10069643|NCIT:C4342|SNOMEDCT:255102004 http://purl.obolibrary.org/obo/MONDO_0020324 Tappeiner-Pfleger disease|angiotropic large cell lymphoma|angioendotheliomatosis proliferans systemisata|malignant angioendotheliomatosis|IVBCL|intravascular lymphomatosis|angiotropic lymphoma|intravascular B-cell lymphoma|intravascular large B-cell lymphoma ordo_disease RO:0002210 directly develops into biolink:OntologyClass mondo inverse of directly develops from http://purl.obolibrary.org/obo/RO_0002210 MONDO:0020323 primary mediastinal large B-cell lymphoma biolink:Disease mondo NCIT:C9280|UMLS:C1292754|MedDRA:10036710|ONCOTREE:PMBL|ICDO:9679/3|ICD10:C85.2|SCTID:444910004|DOID:0080210|ICD10:C83.3|Orphanet:98838 A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001) DOID:0080210|MEDDRA:10036710|NCIT:C9280|UMLS:C0855152|ORPHA:98838|SNOMEDCT:444910004|UMLS:C1292754 http://purl.obolibrary.org/obo/MONDO_0020323 mediastinal diffuse large-cell lymphoma with sclerosis|B-cell diffuse large cell lymphoma of the mediastinum|B-cell diffuse large cell lymphoma of mediastinum|primary mediastinal B-cell lymphoma|PMLCL|PMBL|primary mediastinal clear cell lymphoma of B-cell type|large cell lymphoma of the mediastinum|mediastinal (thymic) large B-cell lymphoma|mediastinal diffuse large cell lymphoma with sclerosis|Med-DLBCL|primary mediastinal large B-cell lymphoma|mediastinal B-cell diffuse large cell lymphoma|mediastinal large B-cell lymphoma|primary mediastinal (thymic) large B-cell lymphoma ordo_disease MONDO:0010997 classic progressive supranuclear palsy syndrome biolink:Disease mondo Orphanet:240071|ICD10:G23.1|OMIM:601104|UMLS:CN201679 Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. UMLS:CN201679|ORPHA:240071|http://identifiers.org/omim/601104 http://purl.obolibrary.org/obo/MONDO_0010997 Psp|classic PSP syndrome|PSNP1|supranuclear palsy, progressive, 1|supranuclear palsy, progressive, 1; PSNP1|Steele-Richardson-Olszewski syndrome|supranuclear palsy, progressive, type 1|Steele-Richardson-Olszewski disease|Richardson syndrome ordo_clinical_subtype MONDO:0007347 obsolete Coxsackievirus B3 susceptibility biolink:Disease mondo OMIM:120050|UMLS:C1861511 http://identifiers.org/omim/120050|UMLS:C1861511 http://purl.obolibrary.org/obo/MONDO_0007347 Cb3S|Coxsackievirus B3 susceptibility; CXB3S|CXB3S|Coxsackievirus B3 susceptibility MONDO:0020322 acute biphenotypic leukemia biolink:Disease mondo Orphanet:98837|MedDRA:10067399|ICD10:C95.0|ICD9:207.80|UMLS:C0023464|DOID:9953|EFO:1000828|SCTID:278453007|MESH:D015456|ICDO:9805/3|NCIT:C4673 An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) SNOMEDCT:278453007|ORPHA:98837|UMLS:C0023464|MEDDRA:10067399|NCIT:C4673|DOID:9953|MESH:D015456 http://purl.obolibrary.org/obo/MONDO_0020322 B- and T-cell mixed leukemia ordo_disease RO:0002211 regulates (processual) biolink:OntologyClass mondo process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2. http://purl.obolibrary.org/obo/RO_0002211 MONDO:0007344 cluster headache, familial biolink:Disease mondo UMLS:C1861513|OMIM:119915|MESH:C566117 An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome. MESH:C566117|UMLS:C1861513|http://identifiers.org/omim/119915 http://purl.obolibrary.org/obo/MONDO_0007344 hereditary cluster headache syndrome|cluster headache, familial HGNC:29007 FRMPD4 biolink:OntologyClass mondo http://identifiers.org/hgnc/29007 MONDO:0020321 acute undifferentiated leukemia biolink:Disease mondo UMLS:C1282947|Orphanet:98835|ONCOTREE:AUL|ICD10:C95.0|UMLS:C0280141|SCTID:359631009|NCIT:C9298|MedDRA:10045516|UMLS:C0856823 A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage. NCIT:C9298|UMLS:C0856823|ORPHA:98835|UMLS:C0280141|UMLS:C1282947|MEDDRA:10045516|SNOMEDCT:359631009 http://purl.obolibrary.org/obo/MONDO_0020321 stem cell acute leukemia|undifferentiated acute leukemia|acute leukemia, NOS|acute leukemia not otherwise specified|acute undifferentiated leukemia|leukemia stem cell|acute myeloid leukemia, minimal differentiation, FAB M0|stem cell leukemia|AUL ordo_disease MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome biolink:Disease mondo UMLS:C1832735|ICD10:Q87.8|Orphanet:3304|SCTID:723336008|GARD:0000893|OMIM:601127|MESH:C536608 Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. ORPHA:3304|SNOMEDCT:723336008|UMLS:C1832735|MESH:C536608|http://identifiers.org/omim/601127 http://purl.obolibrary.org/obo/MONDO_0010999 Bindewald-Ulmer-Müller syndrome|Bindewald Ulmer Muller syndrome|FALLOT complex with severe mental and growth retardation ordo_malformation_syndrome MONDO:0007345 aorta coarctation biolink:Disease mondo UMLS:C0003492|Orphanet:1457|OMIM:120000|MedDRA:10009807|ICD10:Q25.1|GARD:0005828|SCTID:7305005|COHD:321119|EFO:1001267|ICD9:747.10|MESH:D001017|NCIT:C84567 Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. http://identifiers.org/omim/120000|NCIT:C84567|MEDDRA:10009807|UMLS:C0003492|MESH:C531623|MESH:D001017|ORPHA:1457|SNOMEDCT:7305005 http://purl.obolibrary.org/obo/MONDO_0007345 coarctation of aorta|coarctation of the aorta|aortic coarctation ordo_morphological_anomaly RO:0002212 negatively regulates biolink:OntologyClass mondo Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2. http://purl.obolibrary.org/obo/RO_0002212 MONDO:0020320 acute myeloblastic leukemia with maturation biolink:Disease mondo EFO:0003028|Orphanet:98834|ICD10:C92.0|ONCOTREE:AM|GARD:0000527|NCIT:C3250|ICDO:9874/3 An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001) ORPHA:98834|NCIT:C3250 http://purl.obolibrary.org/obo/MONDO_0020320 M2 acute myeloblastic leukemia with maturation|acute myelogenous leukemia with maturation|acute myeloblastic leukemia M2|M2 acute myeloblastic leukemia|AML with maturation|acute myeloblastic leukemia type 2|AML M2|M2 acute myeloid leukemia with maturation|M2 acute granulocytic leukemia|M2 acute myelogenous leukemia with maturation|M2 acute myeloid leukemia|AM|LAM M2|FAB M2|M2 acute myelocytic leukemia with maturation|M2 acute myelogenous leukemia|acute myeloid leukemia (AML-M2)|acute myelocytic leukemia with maturation|acute M2 myeloid leukemia|acute myeloid leukemia with maturation ordo_disease|gard_rare MONDO:0007342 clubfoot biolink:Disease mondo OMIM:119800|MESH:D003025|SCTID:397932003|DOID:11836|NCIT:C84641|ICD9:754.51|ICD10:Q66.0|ICD10:Q66.89 The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. DOID:11836|SNOMEDCT:397932003|MESH:D003025|NCIT:C84641|http://identifiers.org/omim/119800 http://purl.obolibrary.org/obo/MONDO_0007342 talipes|equinovarus deformity of foot (finding)|clubbed foot|congenital talipes equinovarus|clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly|clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly; CCF|equinovarus deformity of foot|congenital equinovarus|CCF|club foot|talipes equinovarus|congenital clubfoot MONDO:0007343 isolated congenital digital clubbing biolink:Disease mondo ICD10:Q68.1|OMIM:119900|Orphanet:217059 Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality. http://identifiers.org/omim/119900|ORPHA:217059 http://purl.obolibrary.org/obo/MONDO_0007343 acropachy, hereditary|isolated congenital acropachy|digital clubbing, isolated congenital|isolated congenital nail clubbing|clubbing of digits ordo_morphological_anomaly MONDO:0007340 cleidocranial dysplasia biolink:Disease mondo DOID:13994|MESH:D002973|ICD10:Q74.0|ICD9:755.59|Orphanet:1452|NCIT:C75020|OMIM:119600|SCTID:65976001|UMLS:C0008928|GARD:0006118 Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. MESH:D002973|ORPHA:1452|NCIT:C75020|SNOMEDCT:65976001|http://identifiers.org/omim/119600|UMLS:C0008928|DOID:13994 http://purl.obolibrary.org/obo/MONDO_0007340 cleidocranial dysplasia; CCD|CLCD|cleidocranial dysostosis|dysplasia cleidocranial|Marie-Sainton disease|cleidocranial dysplasia|cleidocranial dysplasia, forme fruste, dental anomalies only|CCD|cleidocranial dysplasia, forme fruste, with brachydactyly ordo_malformation_syndrome MONDO:0007341 cleidorhizomelic syndrome biolink:Disease mondo UMLS:C1861515|SCTID:719471002|MESH:C536428|OMIM:119650|ICD10:Q77.8|Orphanet:1453|GARD:0005532 Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. UMLS:C1861515|ORPHA:1453|MESH:C536428|http://identifiers.org/omim/119650|SNOMEDCT:719471002 http://purl.obolibrary.org/obo/MONDO_0007341 Wallis-Zieff-Goldblatt syndrome|cleidorhizomelic syndrome|cleido rhizomelic syndrome|brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle|Wallis Zieff Goldblatt syndrome|rhizomelic shortness with clavicular defect gard_rare|ordo_malformation_syndrome HGNC:20670 TWIST2 biolink:OntologyClass mondo http://identifiers.org/hgnc/20670 RO:0002207 directly develops from biolink:OntologyClass mondo Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. http://purl.obolibrary.org/obo/RO_0002207 MONDO:0020319 obsolete acute myeloblastic leukemia without maturation biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020319 MONDO:0020318 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020318 MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities biolink:Disease mondo ICDO:9897/3|ICD10:C92.6|Orphanet:98831|NCIT:C82403|SCTID:444911000 An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation. NCIT:C82403|SNOMEDCT:444911000|ORPHA:98831|UMLS:C1292775 http://purl.obolibrary.org/obo/MONDO_0020317 acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A|AML with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with MLL abnormalities|acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A|acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A|acute myeloid leukemia with 11q23 (MLL) abnormalities|AML with 11q23 abnormalities ordo_disease MONDO:0019339 47,XYY syndrome biolink:Disease mondo ICD10:Q98.5|NCIT:C85237|SCTID:50749006|MESH:C535317|MedDRA:10056894|Orphanet:8|GARD:0005674 47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. NCIT:C85237|MEDDRA:10056894|UMLS:C0043379|MESH:D014997|ORPHA:8|MESH:C535317|SNOMEDCT:50749006 http://purl.obolibrary.org/obo/MONDO_0019339 XYY syndrome|Double Y|XYY karyotype|47,XYY syndrome|Double Y syndrome|disomy Y|Y disomy|47,XYY|YY syndrome|47, XYY syndrome ordo_malformation_syndrome RO:0002202 develops_from biolink:OntologyClass mondo x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y http://purl.obolibrary.org/obo/RO_0002202 MONDO:0019338 sarcoidosis biolink:Disease mondo DOID:11335|COHD:438688|ICD10:D86.8|SCTID:31541009|ICD9:135|NCIT:C34995|ICD10:D80-D89|ICD10:D86.3|ICD10:D86.2|ICD10:D86|ICD10:D86.1|ICD10:D86.0|ICD10:D86.9|MESH:D012507|Orphanet:797|UMLS:C0036202|MedDRA:10039486 Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. DOID:11335|MEDDRA:10039486|SNOMEDCT:31541009|MESH:D012507|ORPHA:797|UMLS:C0036202|NCIT:C34995 http://purl.obolibrary.org/obo/MONDO_0019338 Besnier-Boeck-Schaumann disease|sarcoidosis|lupus pernio of Besnier|Darier-Roussy sarcoid|Boeck's sarcoid|Boeck sarcoid|Boeck's sarcoidosis|besnier-Boeck-Schaumann syndrome|sarcoid|benign lymphogranulomatosis of Schaumann|miliary lupoid of boeck|lymphogranulomatosis ordo_disease MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) biolink:Disease mondo Orphanet:98829|GARD:0000536|ICD10:C92.5 Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy. ORPHA:98829 http://purl.obolibrary.org/obo/MONDO_0020316 AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)|AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)|acute myelomonocytic leukemia|CBFB-MYH11 gard_rare|ordo_disease RO:0002203 develops_into biolink:OntologyClass mondo inverse of develops from http://purl.obolibrary.org/obo/RO_0002203 MONDO:0020315 unclassified myelodysplastic syndrome biolink:Disease mondo Orphanet:98827|UMLS:CN207136|ICD10:D46.7 Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance. ORPHA:98827|UMLS:CN207136 http://purl.obolibrary.org/obo/MONDO_0020315 ordo_disease MONDO:0020314 obsolete refractory anemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020314 MONDO:0019335 mild hyperphenylalaninemia biolink:Disease mondo Orphanet:79651|ICD10:E70.1 Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA. ORPHA:79651 http://purl.obolibrary.org/obo/MONDO_0019335 non-PKU HPA|mild HPA|mHPA ordo_clinical_subtype MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease biolink:Disease mondo Orphanet:576379 ORPHA:576379 http://purl.obolibrary.org/obo/MONDO_0034976 ordo_disease MONDO:0022977 diaphragmatic hernia exomphalos corpus callosum agenesis biolink:Disease mondo GARD:0001846 http://purl.obolibrary.org/obo/MONDO_0022977 gard_rare MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency biolink:Disease mondo ICD10:E16.1|Orphanet:79644|UMLS:CN206003 UMLS:CN206003|ORPHA:79644 http://purl.obolibrary.org/obo/MONDO_0019334 autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency ordo_disease MONDO:0022978 diaphragmatic hernia upper limb defects biolink:Disease mondo GARD:0001847 http://purl.obolibrary.org/obo/MONDO_0022978 gard_rare MONDO:0019337 autoimmune bullous skin disease biolink:Disease mondo DOID:8502|EFO:1000673|ICD9:694.9|COHD:137944|SCTID:7231009|Orphanet:79669|UMLS:CN206006|ICD9:694.8 An autoimmune disease characterized by blisters on the skin. DOID:8502|SNOMEDCT:7231009|UMLS:CN206006|ORPHA:79669 http://purl.obolibrary.org/obo/MONDO_0019337 bullous skin disease|bullous dermatosis ordo_group_of_disorders HGNC:19688 NECTIN4 biolink:OntologyClass mondo http://identifiers.org/hgnc/19688 MONDO:0019336 Gardner syndrome biolink:Disease mondo NCIT:C6728|UMLS:C0017097|Orphanet:79665|ICD9:759.89|MESH:D005736|GARD:0006482|SCTID:60876000|MedDRA:10017727|ICD10:D12.6 Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. NCIT:C6728|UMLS:C0017097|MESH:D005736|MEDDRA:10017727|SNOMEDCT:60876000|ORPHA:79665 http://purl.obolibrary.org/obo/MONDO_0019336 Gardner's syndrome|intestinal polyposis, osteomas, sebaceous cysts|Gardner syndrome|polyposis coli and multiple hard and soft tissue tumors ordo_clinical_subtype HGNC:19689 RD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/19689 MONDO:0019331 obsolete rare form of salmonellosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019331 HGNC:17023 RNF139 biolink:OntologyClass mondo http://identifiers.org/hgnc/17023 MONDO:0019330 pili gemini biolink:Disease mondo MESH:C537188|ICD10:L67.8|ICD9:704.8|Orphanet:79492|SCTID:42829009 Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair. MESH:C537188|SNOMEDCT:42829009|ORPHA:79492 http://purl.obolibrary.org/obo/MONDO_0019330 pili multigemini ordo_disease HGNC:19687 EIF2AK4 biolink:OntologyClass mondo http://identifiers.org/hgnc/19687 HGNC:17022 HPS5 biolink:OntologyClass mondo http://identifiers.org/hgnc/17022 MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency biolink:Disease mondo ICD10:E16.1|UMLS:CN206002|Orphanet:79643 UMLS:CN206002|ORPHA:79643 http://purl.obolibrary.org/obo/MONDO_0019333 autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency ordo_disease MONDO:0019332 punctate palmoplantar keratoderma type 1 biolink:Disease mondo SCTID:717184007|GARD:0003103|UMLS:CN205995|ICD10:Q82.8|Orphanet:79501 Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.. UMLS:CN205995|SNOMEDCT:717184007|ORPHA:79501 http://purl.obolibrary.org/obo/MONDO_0019332 Buschke-Fischer-Brauer syndrome|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|PPKP1|punctate palmoplantar keratoderma type I|type I punctate palmoplantar keratoderma|Brauer-Buschke-Fischer syndrome|keratoderma, palmoplantar punctate type 1 ordo_disease HGNC:17024 PHF11 biolink:OntologyClass mondo http://identifiers.org/hgnc/17024 HGNC:30000 BBS9 biolink:OntologyClass mondo http://identifiers.org/hgnc/30000 HGNC:19693 COQ4 biolink:OntologyClass mondo http://identifiers.org/hgnc/19693 HGNC:19691 MECR biolink:OntologyClass mondo http://identifiers.org/hgnc/19691 MONDO:0022971 diabetes persistent mullerian ducts biolink:Disease mondo GARD:0001840 http://purl.obolibrary.org/obo/MONDO_0022971 gard_rare MONDO:0022972 diabetic mastopathy biolink:Disease mondo MESH:C537524|SCTID:724136006|GARD:0008322 Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). MESH:C537524|SNOMEDCT:724136006 http://purl.obolibrary.org/obo/MONDO_0022972 diabetic fibrous mastopathy|sclerosing lymphocytic lobulitis|diabetic fibrous breast disease|lymphocytic mastitis|lymphocytic mastopathy gard_rare MONDO:0007359 commissural lip pits biolink:Disease mondo OMIM:120500|SCTID:109550008 http://identifiers.org/omim/120500|SNOMEDCT:109550008 http://purl.obolibrary.org/obo/MONDO_0007359 commissural lip pits MONDO:0022975 diaphragmatic agenesis radial aplasia omphalocele biolink:Disease mondo GARD:0001843 http://purl.obolibrary.org/obo/MONDO_0022975 gard_rare MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder biolink:Disease mondo OMIM:617360|UMLS:C4479246 UMLS:C4479246|http://identifiers.org/omim/617360 http://purl.obolibrary.org/obo/MONDO_0044302 CHDFIDD|congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder; CHDFIDD MONDO:0010987 autosomal recessive nonsyndromic deafness 8 biolink:Disease mondo DOID:0110527|ICD10:H90.3|OMIM:601072|UMLS:C1832827 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22. http://identifiers.org/omim/601072|UMLS:C1832827|DOID:0110527 http://purl.obolibrary.org/obo/MONDO_0010987 DFNB10|deafness, autosomal recessive 8|NRSD8|deafness, autosomal recessive 10|autosomal recessive deafness 8|DFNB8|deafness, childhood-onset neurosensory, autosomal recessive 8|autosomal recessive deafness 10|autosomal recessive nonsyndromic deafness type 8|deafness, autosomal recessive type 8|childhood-onset neurosensory autosomal recessive deafness 8|neurosensory nonsyndromic recessive deafness 8|deafness, autosomal recessive 8; DFNB8 MONDO:0007357 colonic varices without portal hypertension biolink:Disease mondo MESH:C565172|UMLS:C1852721|OMIM:120440 http://identifiers.org/omim/120440|UMLS:C1852721|MESH:C565172 http://purl.obolibrary.org/obo/MONDO_0007357 colonic varices without portal hypertension MONDO:0020313 unclassified myelodysplastic/myeloproliferative disease biolink:Disease mondo Orphanet:98825|UMLS:CN207134 ORPHA:98825|UMLS:CN207134 http://purl.obolibrary.org/obo/MONDO_0020313 unclassified mixed myelodysplastic/myeloproliferatic syndrome ordo_disease MONDO:0007358 comedones, familial Dyskeratotic biolink:Disease mondo SCTID:254219004|UMLS:C0345424|OMIM:120450|ICD9:757.39|MESH:C562838 SNOMEDCT:254219004|http://identifiers.org/omim/120450|MESH:C562838|UMLS:C0345424 http://purl.obolibrary.org/obo/MONDO_0007358 comedones, familial Dyskeratotic MONDO:0010986 autosomal recessive nonsyndromic deafness 9 biolink:Disease mondo ICD10:H90.3|DOID:0110535|OMIM:601071 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene. DOID:0110535|http://identifiers.org/omim/601071 http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive deafness 9|OTOF autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 9|auditory neuropathy, autosomal recessive, 1|NRSD9|deafness, autosomal recessive type 9|DFNB9|autosomal recessive nonsyndromic deafness type 9|neurosensory nonsyndromic recessive deafness 9|autosomal recessive nonsyndromic deafness caused by mutation in OTOF|deafness, autosomal recessive 9; DFNB9|auditory neuropathy, nonsyndromic recessive MONDO:0044301 aortic aneurysm, familial thoracic 11, susceptibility to biolink:Disease mondo OMIM:617349 http://identifiers.org/omim/617349 http://purl.obolibrary.org/obo/MONDO_0044301 aortic aneurysm, familial thoracic 11, susceptibility to; AAT11|AAT11 predisposition MONDO:0020312 atypical chronic myeloid leukemia biolink:Disease mondo MedDRA:10054651|ICD10:C92.2|DOID:0060597|Orphanet:98824 MEDDRA:10054651|ORPHA:98824|MESH:D054438|UMLS:C0349640|DOID:0060597 http://purl.obolibrary.org/obo/MONDO_0020312 atypical chronic myeloid leukemia BCR-ABL1 negative|aCML|atypical CML|subacute myeloid leukemia|subacute granulocytic leukemia|subacute myelogenous leukemia ordo_disease HGNC:29017 PLEKHM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29017 MONDO:0020311 chronic myelomonocytic leukemia biolink:Disease mondo UMLS:C0023480|ICDO:9945/3|ONCOTREE:CMML|MESH:D015477|Orphanet:98823|DOID:0080188|MedDRA:10009018|ICD10:C93.1|GARD:0008225|NCIT:C3178|SCTID:127225006 A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. MESH:D015477|DOID:0080188|SNOMEDCT:127225006|ORPHA:98823|UMLS:C0023480|MEDDRA:10009018|NCIT:C3178 http://purl.obolibrary.org/obo/MONDO_0020311 CMML|chronic myelomonocytic leukemia (CMML)|chronic myelomonocytic leukemia ordo_disease MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability biolink:Disease mondo UMLS:C0795902|Orphanet:1473|OMIM:120433|MESH:C535971|ICD10:Q12.2|GARD:0001440 Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. http://identifiers.org/omim/120433|ORPHA:1473|UMLS:C0795902|MESH:C535971 http://purl.obolibrary.org/obo/MONDO_0007355 uveal coloboma-cleft lip/palate-mental retardation syndrome|coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate|coloboma, cleft lip/palate and mental retardation syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability; COB1|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation; COB1|coloboma, cleft lip/palate and intellectual disability syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation|coloboma-microphthalmos syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability|COB1|uveal coloboma-cleft lip/palate-intellectual disability syndrome ordo_malformation_syndrome MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency biolink:Disease mondo UMLS:C4479270|OMIM:617384|Orphanet:508523 Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}). UMLS:C4479270|ORPHA:508523|http://identifiers.org/omim/617384 http://purl.obolibrary.org/obo/MONDO_0044304 hyperphenylalaninemia, mild, non-BH4-deficient; HPANBH4|HPANBH4 ordo_disease MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 biolink:Disease mondo SCTID:717705004|Orphanet:2578|OMIM:601076|ICD10:Q87.8|GARD:0005513 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. SNOMEDCT:717705004|http://identifiers.org/omim/601076|ORPHA:2578|UMLS:C1832817 http://purl.obolibrary.org/obo/MONDO_0010989 MURCS association|Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|Mayer-Rokitansky-Küster-Hauser syndrome type 2|MRKH, type 2|MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; MURCS|Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|Mayer-Rokitansky-Kuster-Hauser syndrome, type 2|Klippel-Feil deformity, conductive deafness, and absent vagina|MURCS|MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies|atypical MRKH syndrome|MRKH syndrome type 2 ordo_clinical_subtype RO:0002200 has phenotype biolink:OntologyClass mondo A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/RO_0002200 MONDO:0007356 Lynch syndrome 1 biolink:Disease mondo DOID:0070271|OMIM:120435|NCIT:C6725 A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage. http://identifiers.org/omim/120435|DOID:0070271|NCIT:C6725 http://purl.obolibrary.org/obo/MONDO_0007356 Lynch syndrome type 1|colorectal cancer, hereditary nonpolyposis, type 1|LYNCH syndrome I|hereditary nonpolyposis colorectal cancer type 1|familial non-polyposis colon cancer type 1|Lynch 1 syndrome|colon cancer, familial nonpolyposis, type 1|HNPCC1|COCA1|Lynch syndrome 2|Hereditary non-polyposis colon cancer type 1 MONDO:0010988 aplasia cutis-myopia syndrome biolink:Disease mondo ICD10:Q84.8|SCTID:720499004|GARD:0000756|Orphanet:1117|OMIM:601075|MESH:C563394 Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. http://identifiers.org/omim/601075|ORPHA:1117|MESH:C563394|SNOMEDCT:720499004 http://purl.obolibrary.org/obo/MONDO_0010988 Gershoni-Baruch-Leibo syndrome|aplasia cutis congenita, high myopia, and cone-rod dysfunction|aplasia cutis myopia gard_rare|ordo_disease MONDO:0044303 congenital heart defects and ectodermal dysplasia biolink:Disease mondo UMLS:C4479250|OMIM:617364 UMLS:C4479250|http://identifiers.org/omim/617364 http://purl.obolibrary.org/obo/MONDO_0044303 CHDED|congenital heart defects and ectodermal dysplasia; CHDED MONDO:0020310 familial focal epilepsy with variable foci biolink:Disease mondo MESH:C565785|Orphanet:98820|DC:0000729|GARD:0013295|OMIMPS:604364|SCTID:764522009|UMLS:CN207131 Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. SNOMEDCT:764522009|UMLS:CN207131|ORPHA:98820|MESH:C565785 http://purl.obolibrary.org/obo/MONDO_0020310 FFEVF|epilepsy, familial focal, with variable foci|familial partial epilepsy with variable foci ordo_disease|prototype_pattern RO:0002201 phenotype of biolink:OntologyClass mondo inverse of has phenotype http://purl.obolibrary.org/obo/RO_0002201 MONDO:0007353 coloboma of macula-brachydactyly type B syndrome biolink:Disease mondo UMLS:C1852752|GARD:0001437|Orphanet:1471|OMIM:120400|MESH:C535969|ICD10:Q87.1|SCTID:717785002 Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner. UMLS:C1852752|ORPHA:1471|SNOMEDCT:717785002|MESH:C535969|http://identifiers.org/omim/120400 http://purl.obolibrary.org/obo/MONDO_0007353 Sorsby syndrome|apical dystrophy|coloboma of macula with type B brachydactyly ordo_malformation_syndrome MONDO:0007354 coloboma of optic nerve (disease) biolink:Disease mondo OMIM:120430|ICD10:Q14.2|ICD10:H47.319|SCTID:17541006|ICD10:H47.31|MESH:C535970|DOID:11975|HP:0000588|GARD:0008502|ICD9:377.23 http://identifiers.org/omim/120430|DOID:11975|SNOMEDCT:17541006|MESH:C535970 http://purl.obolibrary.org/obo/MONDO_0007354 coloboma of optic nerve|morning glory Disc anomaly|optic nerve coloboma|coloboma of optic disc|congenital coloboma of the optic nerve|optic nerve head pits, bilateral congenital MONDO:0044300 familial adenomatous polyposis 4 biolink:Disease mondo OMIM:617100 Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100). http://identifiers.org/omim/617100 http://purl.obolibrary.org/obo/MONDO_0044300 FAP4|FAP4|familial adenomatous polyposis 4|familial adenomatous polyposis 4; FAP4|familial adenomatous polyposis type 4|familial adenomatous polyposis 4; FAP4 MONDO:0007351 coloboma of macula biolink:Disease mondo Orphanet:98945|ICD10:Q14.8|GARD:0001436|OMIM:120300 Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. ORPHA:98945|http://identifiers.org/omim/120300 http://purl.obolibrary.org/obo/MONDO_0007351 macular coloboma|agenesis of macula|hereditary macular coloboma (subtype)|coloboma of macula ordo_morphological_anomaly MONDO:0007352 renal coloboma syndrome biolink:Disease mondo SCTID:446449009|DOID:0090006|NCIT:C123230|OMIM:120330|Orphanet:1475|GARD:0004106|ICD10:Q60.4|UMLS:C1852759|MESH:C537168|ICD9:759.89 Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. UMLS:C1852759|NCIT:C123230|MESH:C537168|ORPHA:1475|SNOMEDCT:446449009|DOID:0090006|http://identifiers.org/omim/120330 http://purl.obolibrary.org/obo/MONDO_0007352 papillorenal syndrome|CAKUT with or without ocular abnormalities|optic coloboma, vesicoureteral reflux and renal anomalies|renal-coloboma syndrome with macular abnormalities|optic nerve coloboma with renal disease|Papillo-renal syndrome|papillo-renal syndrome, optic nerve coloboma with renal disease|PAPILLORENAL syndrome; PAPRS|renal-coloboma syndrome|optic coloboma, vesicoureteral reflux, and renal anomalies|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|PAPILLORENAL syndrome|coloboma of optic nerve with renal disease|PAPRS gard_rare|ordo_malformation_syndrome MONDO:0010990 Cd4/CD8 T-cell ratio biolink:Disease mondo OMIM:601083 http://identifiers.org/omim/601083 http://purl.obolibrary.org/obo/MONDO_0010990 Cd4/CD8 T-cell ratio MONDO:0007350 coloboma, ocular, autosomal dominant biolink:Disease mondo OMIM:120200 http://identifiers.org/omim/120200 http://purl.obolibrary.org/obo/MONDO_0007350 coloboma, Uveoretinal|coloboma, ocular, autosomal dominant|coloboma of iris, choroid, and retina MONDO:0020309 obsolete Landau-Kleffner syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020309 MONDO:0010992 Ayme-Gripp syndrome biolink:Disease mondo UMLS:C1832812|MESH:C563390|OMIM:601088|Orphanet:477668|EFO:0009020 UMLS:C1832812|ORPHA:477668|MESH:C563390|http://identifiers.org/omim/601088 http://purl.obolibrary.org/obo/MONDO_0010992 Aymé-Gripp syndrome|AYGRP|Ayme-Gripp syndrome|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability|AYME-Gripp syndrome; AYGRP ordo_malformation_syndrome MONDO:0020308 benign childhood occipital epilepsy, Gastaut type biolink:Disease mondo Orphanet:98816|ICD10:G40.0|UMLS:CN207128 Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare. ORPHA:98816|UMLS:CN207128 http://purl.obolibrary.org/obo/MONDO_0020308 late-onset benign childhood occipital epilepsy ordo_clinical_subtype MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type biolink:Disease mondo ICD9:345.80|Orphanet:98815|SCTID:230387008|ICD10:G40.0|UMLS:CN207127 Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases. UMLS:CN207127|ORPHA:98815|SNOMEDCT:230387008 http://purl.obolibrary.org/obo/MONDO_0020307 Panayiotopoulos syndrome|early-onset benign childhood occipital epilepsy ordo_clinical_subtype MONDO:0010991 laterality defects, autosomal dominant biolink:Disease mondo OMIM:601086|MESH:C563391|GARD:0003198|UMLS:C1832813 UMLS:C1832813|MESH:C563391|http://identifiers.org/omim/601086 http://purl.obolibrary.org/obo/MONDO_0010991 laterality defects dominant|laterality defects, autosomal dominant MONDO:0020306 absent tibia-polydactyly syndrome biolink:Disease mondo ICD10:Q87.2|GARD:0008309|UMLS:C1861099|Orphanet:988|MESH:C535564 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. UMLS:C1861099|ORPHA:988|MESH:C535564 http://purl.obolibrary.org/obo/MONDO_0020306 tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome|polydactyly with absent tibia|absence of tibia with polydactyly ordo_malformation_syndrome MONDO:0019328 macrocystic lymphatic malformation biolink:Disease mondo NCIT:C53316|Orphanet:79489|GARD:0006010|ICD10:D18.1 A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces. ORPHA:79489|NCIT:C53316 http://purl.obolibrary.org/obo/MONDO_0019328 cavernous lymphangioma|cavernous lymphatic malformation|macrocystic lymphangioma ordo_malformation_syndrome MONDO:0010994 micromelic dwarfism, Fryns type biolink:Disease mondo UMLS:C1832800|MESH:C537556|Orphanet:2641|ICD10:Q77.8|OMIM:601096|GARD:0003642|SCTID:715479009 ORPHA:2641|MESH:C537556|UMLS:C1832800|SNOMEDCT:715479009|http://identifiers.org/omim/601096 http://purl.obolibrary.org/obo/MONDO_0010994 dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|spondyloepimetaphyseal dysplasia micromelic|micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects|spondyloepimetaphyseal dysplasia, micromelic|SEMD, micromelic ordo_disease MONDO:0010993 Harrod syndrome biolink:Disease mondo Orphanet:2115|SCTID:716089008|MESH:C535635|UMLS:C0795970|GARD:0002601|OMIM:601095|ICD10:Q87.8 Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. UMLS:C0795970|MESH:C535635|http://identifiers.org/omim/601095|SNOMEDCT:716089008|ORPHA:2115 http://purl.obolibrary.org/obo/MONDO_0010993 craniofacial digital genital anomalies|cranio-facio-digito-genital syndrome|Harrod syndrome|Harrod Doman Keele syndrome ordo_malformation_syndrome MONDO:0019327 phakomatosis spilorosea biolink:Disease mondo Orphanet:79485|ICD10:Q85.8|ICD9:759.6|UMLS:CN205986|SCTID:703285005 ORPHA:79485|SNOMEDCT:703285005|UMLS:CN205986 http://purl.obolibrary.org/obo/MONDO_0019327 phakomatosis pigmentovascularis type 3 ordo_clinical_subtype MONDO:0020305 isochromosomy Yq biolink:Disease mondo Orphanet:98798|ICD10:Q98.6 Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia. ORPHA:98798 http://purl.obolibrary.org/obo/MONDO_0020305 ordo_malformation_syndrome MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 biolink:Disease mondo MESH:C537140|OMIM:601101|GARD:0009902 MESH:C537140|http://identifiers.org/omim/601101 http://purl.obolibrary.org/obo/MONDO_0010996 telangiectasia, hereditary hemorrhagic, type 3|HHT3|telangiectasia, hereditary hemorrhagic, type 3; HHT3|telangiectasia hereditary hemorrhagic type 3|ORW3|Osler Weber Rendu syndrome type 3 gard_rare MONDO:0020304 isochromosomy Yp biolink:Disease mondo SCTID:766708008|Orphanet:98797|ICD10:Q98.6 Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization. SNOMEDCT:766708008|ORPHA:98797 http://purl.obolibrary.org/obo/MONDO_0020304 ordo_malformation_syndrome MONDO:0010995 Charcot-Marie-Tooth disease type 1C biolink:Disease mondo Orphanet:101083|DOID:0110151|MESH:C537984|GARD:0001247|UMLS:C0270913|OMIM:601098|ICD10:G60.0 Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene. UMLS:C0270913|DOID:0110151|MESH:C537984|ORPHA:101083|http://identifiers.org/omim/601098 http://purl.obolibrary.org/obo/MONDO_0010995 Charcot-Marie-Tooth neuropathy, type 1C|HMSN IC|CMT slow nerve conduction type C|neuropathy, hereditary motor and sensory, type 1C|HMSN 1C|CMT 1C|Charcot Marie Tooth disease type 1C|CMT, slow nerve conduction type C|Charcot-Marie-Tooth neuropathy type 1C|CMT1C|Charcot-Marie-Tooth disease, demyelinating, type 1C; CMT1C|neuropathy hereditary motor and sensory type 1C|Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF|Charcot-Marie-Tooth disease, demyelinating, type 1C|LITAF Charcot-Marie-Tooth disease type 1|HMSN1C gard_rare|ordo_disease MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 biolink:Disease mondo ICD10:Q93.5|UMLS:CN207117|Orphanet:98795 ORPHA:98795|UMLS:CN207117 http://purl.obolibrary.org/obo/MONDO_0020303 UPD(15)pat|Angelman syndrome due to paternal uniparental disomy of chromosome type 15 ordo_etiological_subtype MONDO:0019329 microcystic lymphatic malformation biolink:Disease mondo GARD:0013020|ICD10:D18.1|Orphanet:79490 ORPHA:79490 http://purl.obolibrary.org/obo/MONDO_0019329 cutaneous lymphangioma circumscriptum|superficial lymphangioma|microcystic infiltrating lymphatic malformation|capillary lymphangioma|microcystic lymphangioma|superficial lymphatic malformation|capillary lymphatic malformation ordo_malformation_syndrome MONDO:0022965 desmoplastic infantile ganglioglioma biolink:Disease mondo GARD:0008648|UMLS:C1321878|ONCOTREE:DIG|NCIT:C4738 A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) NCIT:C4738|UMLS:C1321878 http://purl.obolibrary.org/obo/MONDO_0022965 Desmoplastic infantile ganglioglioma|DIG gard_rare MONDO:0019324 pemphigus foliaceus biolink:Disease mondo UMLS:C0263313|SCTID:35154004|GARD:0007354|HGNC:3050|Orphanet:79481|MedDRA:10057069|ICD10:L10.2|EFO:0008601 Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed. SNOMEDCT:35154004|UMLS:C0263313|ORPHA:79481|MEDDRA:10057069 http://purl.obolibrary.org/obo/MONDO_0019324 PF gard_rare|ordo_disease MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas biolink:Disease mondo Orphanet:580572 ORPHA:580572 http://purl.obolibrary.org/obo/MONDO_0034987 ordo_disease MONDO:0019323 pemphigus erythematosus biolink:Disease mondo UMLS:C0263312|ICD10:L10.4|SCTID:36739006|Orphanet:79480|EFO:0008603|MedDRA:10058917 Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed. MEDDRA:10058917|SNOMEDCT:36739006|UMLS:C0263312|ORPHA:79480 http://purl.obolibrary.org/obo/MONDO_0019323 Senear-Usher syndrome|seborrheic pemphigus ordo_disease MONDO:0019326 phakomatosis cesiomarmorata biolink:Disease mondo Orphanet:79484|ICD10:Q85.8|ICD9:759.6|UMLS:CN205985|SCTID:703286006 ORPHA:79484|SNOMEDCT:703286006|UMLS:CN205985 http://purl.obolibrary.org/obo/MONDO_0019326 phakomatosis caesiomarmorata|phakomatosis pigmentovascularis type 5|phakomatosis cesiomarmorata ordo_clinical_subtype MONDO:0019325 phakomatosis cesioflammea biolink:Disease mondo ICD10:Q85.8|Orphanet:79483|SCTID:703284009|ICD9:759.6|UMLS:CN205984 ORPHA:79483|UMLS:CN205984|SNOMEDCT:703284009 http://purl.obolibrary.org/obo/MONDO_0019325 phakomatosis pigmentovascularis type 2 ordo_clinical_subtype MONDO:0022968 dextrocardia with situs inversus biolink:Disease mondo GARD:0006268 Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. http://purl.obolibrary.org/obo/MONDO_0022968 situs inversus totalis gard_rare MONDO:0019320 acanthokeratolytic verrucous nevus biolink:Disease mondo GARD:0005485|ICD10:Q82.5|UMLS:CN205975|Orphanet:79468 UMLS:CN205975|ORPHA:79468 http://purl.obolibrary.org/obo/MONDO_0019320 verrucous nevus acanthokeratolytic gard_rare|ordo_clinical_subtype HGNC:19698 KCNV2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19698 MONDO:0019322 pemphigus vegetans biolink:Disease mondo Orphanet:79479|UMLS:CN205981|ICD10:L10.1|SCTID:81285006|UMLS:C0263316|EFO:0008613|MedDRA:10057053 UMLS:CN205981|SNOMEDCT:81285006|UMLS:C0406647|UMLS:C0263316|ORPHA:79479|MEDDRA:10057053 http://purl.obolibrary.org/obo/MONDO_0019322 ordo_clinical_subtype MONDO:0019321 atypical Werner syndrome biolink:Disease mondo Orphanet:79474|GARD:0011910|UMLS:C4275075|UMLS:CN205977|SCTID:715633008|ICD10:E34.8 A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. UMLS:CN205977|UMLS:C4275075|SNOMEDCT:715633008|ORPHA:79474 http://purl.obolibrary.org/obo/MONDO_0019321 atypical progeroid syndrome ordo_disease|gard_rare HGNC:17035 EXOSC8 biolink:OntologyClass mondo http://identifiers.org/hgnc/17035 HGNC:19661 TNNI3K biolink:OntologyClass mondo http://identifiers.org/hgnc/19661 MONDO:0022960 dermatocardioskeletal syndrome boronne type biolink:Disease mondo GARD:0001812 http://purl.obolibrary.org/obo/MONDO_0022960 gard_rare MONDO:0007328 choroidal osteoma, bilateral biolink:Disease mondo MESH:C566124|UMLS:C1861558|OMIM:118865 http://identifiers.org/omim/118865|MESH:C566124|UMLS:C1861558 http://purl.obolibrary.org/obo/MONDO_0007328 choroidal osteoma, bilateral HGNC:20653 SLC9A9 biolink:OntologyClass mondo http://identifiers.org/hgnc/20653 MONDO:0007329 cirrhosis, familial biolink:Disease mondo SCTID:6183001|NCIT:C84411|OMIM:215600 Cirrhosis in which no causative agent can be identified. http://identifiers.org/omim/215600|NCIT:C84411|SNOMEDCT:6183001 http://purl.obolibrary.org/obo/MONDO_0007329 cirrhosis, familial|endemic Tyrolean infantile cirrhosis|cryptogenic cirrhosis|cirrhosis, familial, with pulmonary hypertension|cirrhosis, cryptogenic|Sen syndrome|copper toxicosis, idiopathic|hereditary cirrhosis of liver|Indian childhood cirrhosis|copper-overload cirrhosis|cirrhosis, Noncryptogenic, susceptibility to MONDO:0009989 enhanced S-cone syndrome biolink:Disease mondo GARD:0010781|OMIM:268100|ICD10:H35.5|UMLS:C1849394|MESH:C564835|Orphanet:53540|DOID:0090059|SCTID:232065000 Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). DOID:0090059|MESH:C564835|UMLS:C1849394|ORPHA:53540|SNOMEDCT:232065000|UMLS:C0339541|http://identifiers.org/omim/268100 http://purl.obolibrary.org/obo/MONDO_0009989 retinoschisis with early nyctalopia|enhanced S-cone syndrome|Favre hyaloideoretinal Degeneration|enhanced S-cone syndrome; ESCS|Goldmann-Favre syndrome|ESCS|retinoschisis with early hemeralopia ordo_disease MONDO:0022963 desmoplastic infantile astrocytoma biolink:Disease mondo ONCOTREE:DIA|ICDO:9412/1|GARD:0009617|UMLS:C0457179|NCIT:C9476 A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) NCIT:C9476|UMLS:C0457179 http://purl.obolibrary.org/obo/MONDO_0022963 DIA|Desmoplastic infantile astrocytoma|Desmoplastic astrocytoma of infancy gard_rare MONDO:0007326 paroxysmal nonkinesigenic dyskinesia 1 biolink:Disease mondo OMIM:118800|ICD10:G24.8|MedDRA:10065658|MedDRA:10065657|GARD:0008722|DOID:0090049|Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation. ORPHA:98810|DOID:0090049|http://identifiers.org/omim/118800|MESH:C537181|UMLS:C1869117|MEDDRA:10065657|MEDDRA:10065658 http://purl.obolibrary.org/obo/MONDO_0007326 paroxysmal nonkinesigenic dyskinesia 1; PNKD1|paroxysmal nonkinesigenic dyskinesia 1|Paroxysomal nonkinesigenic dyskinesia|paroxysmal non-kinesigenic dyskinesia|paroxysmal dyskinesia caused by mutation in PNKD|choreoathetosis, nonkinesigenic|dystonia 8|mount-reback syndrome|PNKD paroxysmal dyskinesia|Paroxystic non-kinesigenic choreoathetosis|choreoathetosis, familial paroxysmal|PNKD1|DYT-MR-1|PxMD-PNKD|paroxysmal nonkinesigenic dyskinesia type 1|paroxysmal dystonic choreoathetosis ordo_disease MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase biolink:Disease mondo OMIM:118830|UMLS:C1861560|Orphanet:411|MESH:C566126 http://identifiers.org/omim/118830|MESH:C566126|UMLS:C1861560|ORPHA:411 http://purl.obolibrary.org/obo/MONDO_0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase|hyperlipoproteinemia, type 1C MONDO:0009988 retinoschisis of fovea biolink:Disease mondo MESH:C538369|UMLS:C1849397|OMIM:268080|GARD:0009143 UMLS:C1849397|MESH:C538369|http://identifiers.org/omim/268080 http://purl.obolibrary.org/obo/MONDO_0009988 familial foveal retinoschisis|foveal retinoschisis|retinoschisis of fovea gard_rare MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy biolink:Disease mondo MESH:C564838|DOID:0110422|OMIM:268060|UMLS:C1849398|ICD10:H35.5 A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. DOID:0110422|UMLS:C1849398|MESH:C564838|http://identifiers.org/omim/268060 http://purl.obolibrary.org/obo/MONDO_0009987 retinopathy, pericentral pigmentary, autosomal recessive|retinitis pigmentosa, pericentral MONDO:0044313 mental retardation, autosomal recessive 60 biolink:Disease mondo OMIM:617432 http://identifiers.org/omim/617432 http://purl.obolibrary.org/obo/MONDO_0044313 mental retardation, autosomal recessive 60; MRT60|MRT60|intellectual disability, autosomal recessive 60; MRT60 MONDO:0010976 KRT14-related epidermolysis bullosa simplex biolink:Disease mondo Orphanet:89838|OMIM:601001|MESH:C563408|ICD10:Q81.0 KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. http://identifiers.org/omim/601001|ORPHA:89838|MESH:C563408 http://purl.obolibrary.org/obo/MONDO_0010976 epidermolysis bullosa simplex, autosomal recessive 1|epidermolysis bullosa simplex, autosomal recessive K14|KRT14-related autosomal recessive epidermolysis bullosa simplex|EBS-AR KRT14|epidermolysis bullosa simplex, autosomal recessive type 1|EBS, autosomal recessive K14|KRT14-related autosomal recessive EBS|EBSB1|epidermolysis bullosa simplex, autosomal recessive 1; EBSB1 ordo_disease MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion biolink:Disease mondo UMLS:CN207116|Orphanet:98794|ICD10:Q93.5 ORPHA:98794|UMLS:CN207116 http://purl.obolibrary.org/obo/MONDO_0020302 Angelman syndrome due to maternal monosomy 15q11q13 ordo_etiological_subtype MONDO:0007324 obsolete chorea biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007324 MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 biolink:Disease mondo OMIM:600996|UMLS:C1832931|DOID:0110071|ICD10:I42.8|MESH:C563409 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene. UMLS:C1832931|http://identifiers.org/omim/600996|DOID:0110071|MESH:C563409 http://purl.obolibrary.org/obo/MONDO_0010975 arrhythmogenic right ventricular cardiomyopathy 2|ARVC2|arrhythmogenic right ventricular dysplasia type 2|arrhythmogenic right ventricular dysplasia, familial, type 2|familial arrhythmogenic right ventricular dysplasia 2|ARVD2|RYR2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, 2; ARVD2|arrhythmogenic right ventricular dysplasia, familial, 2|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2 MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities biolink:Disease mondo UMLS:C4479452|OMIM:617425 http://identifiers.org/omim/617425|UMLS:C4479452 http://purl.obolibrary.org/obo/MONDO_0044312 IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities; ISDNA|ISDNA MONDO:0007325 choreoathetosis, familial inverted biolink:Disease mondo OMIM:118750|MESH:C566127|UMLS:C1861569 http://identifiers.org/omim/118750|MESH:C566127|UMLS:C1861569 http://purl.obolibrary.org/obo/MONDO_0007325 infantile choreoathetosis of Fisher|choreoathetosis, familial inverted MONDO:0009986 retinopathy, pigmentary, and mental retardation biolink:Disease mondo MESH:C538367|OMIM:268050|Orphanet:3084|GARD:0004688 ORPHA:3084|MESH:C538367|http://identifiers.org/omim/268050 http://purl.obolibrary.org/obo/MONDO_0009986 retinal pigmentary degeneration, microcephaly, and severe intellectual disability|Mirhosseini-Holmes-Walton syndrome|retinopathy pigmentary mental retardation|retinopathy, pigmentary, and intellectual disability|retinal pigmentary degeneration, microcephaly, and severe mental retardation|retinopathy pigmentary intellectual disability|retinopathy, pigmentary, and mental retardation MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion biolink:Disease mondo UMLS:CN207115|ICD10:Q87.1|Orphanet:98793 ORPHA:98793|UMLS:CN207115 http://purl.obolibrary.org/obo/MONDO_0020301 ordo_etiological_subtype MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type biolink:Disease mondo ICD10:Q77.3|Orphanet:79346|SCTID:254083002|MESH:C562961|ICD9:756.59|OMIM:118651 ORPHA:79346|http://identifiers.org/omim/118651|SNOMEDCT:254083002|MESH:C562961 http://purl.obolibrary.org/obo/MONDO_0007322 chondrodysplasia punctata, Mt type|chondrodysplasia punctata, tibia-metacarpal type ordo_malformation_syndrome MONDO:0010978 portal vein, cavernous transformation of biolink:Disease mondo MESH:C563407|UMLS:C1832917|OMIM:601004 http://identifiers.org/omim/601004|UMLS:C1832917|MESH:C563407 http://purl.obolibrary.org/obo/MONDO_0010978 portal vein, cavernous transformation of MONDO:0044315 craniosynostosis 7 biolink:Disease mondo OMIM:617439|UMLS:C4479496 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100). UMLS:C4479496|http://identifiers.org/omim/617439 http://purl.obolibrary.org/obo/MONDO_0044315 craniosynostosis 7; CRS7|CRS7|craniosynostosis 7, digenic|Crs7, digenic MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy biolink:Disease mondo MESH:C579932|Orphanet:98784|GARD:0011918|DOID:0060681|SCTID:698021005|ICD9:345.80|UMLS:C3696898 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. UMLS:C3696898|SNOMEDCT:698021005|ORPHA:98784|MESH:C579932|DOID:0060681 http://purl.obolibrary.org/obo/MONDO_0020300 ADNFLE|ENFL ordo_disease MONDO:0009985 retinohepatoendocrinologic syndrome biolink:Disease mondo GARD:0004685|MESH:C564839|UMLS:C1849399|Orphanet:3087|ICD10:Q87.8|OMIM:268040|SCTID:724000006 Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. UMLS:C1849399|MESH:C564839|SNOMEDCT:724000006|ORPHA:3087|http://identifiers.org/omim/268040 http://purl.obolibrary.org/obo/MONDO_0009985 retinohepatoendocrinologic syndrome|rhe syndrome gard_rare|ordo_malformation_syndrome MONDO:0044314 retinitis pigmentosa 78 biolink:Disease mondo UMLS:C4479481|OMIM:617433 UMLS:C4479481|http://identifiers.org/omim/617433 http://purl.obolibrary.org/obo/MONDO_0044314 retinitis pigmentosa 78; RP78|RP78 MONDO:0010977 Brody myopathy biolink:Disease mondo MESH:C536607|GARD:0009158|UMLS:C1832918|OMIM:601003|ICD10:G71.8|ICD9:359.89|SCTID:703530005|DOID:0050692|Orphanet:53347 Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder. http://identifiers.org/omim/601003|SNOMEDCT:703530005|UMLS:C1832918|DOID:0050692|MESH:C536607|ORPHA:53347 http://purl.obolibrary.org/obo/MONDO_0010977 Brody disease|sarcoplasmic reticulum -Ca2+ATPase deficiency|Brody myopathy gard_rare|ordo_disease MONDO:0007323 Chondronectin biolink:Disease mondo OMIM:118670 http://identifiers.org/omim/118670 http://purl.obolibrary.org/obo/MONDO_0007323 Chondronectin MONDO:0009984 late-adult onset retinitis pigmentosa biolink:Disease mondo DOID:0110421|MESH:C564840|OMIM:268025|ICD10:H35.5|UMLS:C1849400 A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. UMLS:C1849400|MESH:C564840|http://identifiers.org/omim/268025|DOID:0110421 http://purl.obolibrary.org/obo/MONDO_0009984 retinitis pigmentosa, 'Senile'|retinitis pigmentosa, late-ADULT onset|senile retinitis pigmentosa MONDO:0007320 chondrocalcinosis due to apatite crystal deposition biolink:Disease mondo MESH:C535939|GARD:0010139|UMLS:C1861580|OMIM:118610 http://identifiers.org/omim/118610|MESH:C535939|UMLS:C1861580 http://purl.obolibrary.org/obo/MONDO_0007320 familial apatite disease|chondrocalcinosis due to apatite crystal deposition gard_rare MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome biolink:Disease mondo GARD:0004683|ICD10:Q87.8|Orphanet:3085|MESH:C564841|OMIM:268020|UMLS:C1849401 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. UMLS:C1849401|MESH:C564841|ORPHA:3085|http://identifiers.org/omim/268020 http://purl.obolibrary.org/obo/MONDO_0009983 retinitis pigmentosa, deafness, mental retardation, and hypogonadism|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability|retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome|retinitis pigmentosa, deafness, intellectual disability, and hypogonadism|retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome|retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome ordo_malformation_syndrome MONDO:0007321 autosomal dominant chondrodysplasia punctata biolink:Disease mondo GARD:0001298|OMIM:118650|DOID:0060293|Orphanet:79344|ICD10:Q77.3|MESH:C563248 Autosomal dominant form of chondrodysplasia punctata. MESH:C563248|ORPHA:79344|DOID:0060293|http://identifiers.org/omim/118650 http://purl.obolibrary.org/obo/MONDO_0007321 chondrodysplasia punctata, Sheffield type|chondrodysplasia punctata Sheffield type|chondrodysplasia punctata, autosomal dominant|chondrodysplasia punctata due to warfarin Teratogenicity|chondrodysplasia punctata due to vitamin K deficiency gard_rare|ordo_malformation_syndrome MONDO:0010979 Timothy syndrome biolink:Disease mondo ICD10:G72.3|DOID:0060173|NCIT:C142894|Orphanet:65283|MESH:C536962|ICD10:I45.8|GARD:0009294|OMIM:601005|UMLS:C1832916 Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. NCIT:C142894|http://identifiers.org/omim/601005|UMLS:C1832916|MESH:C536962|DOID:0060173|ORPHA:65283 http://purl.obolibrary.org/obo/MONDO_0010979 Timothy syndrome|long QT syndrome 8|TS|long QT syndrome-syndactyly syndrome|long QT syndrome type 8|LQT8|TIMOTHY syndrome; TS|long QT syndrome with syndactyly ordo_clinical_subtype|gard_rare MONDO:0009982 retinitis pigmentosa inversa with deafness biolink:Disease mondo UMLS:C1849405|MESH:C564842|OMIM:268010 MESH:C564842|UMLS:C1849405|http://identifiers.org/omim/268010 http://purl.obolibrary.org/obo/MONDO_0009982 retinitis pigmentosa inversa with deafness MONDO:0044311 brachycephaly, trichomegaly, and developmental delay biolink:Disease mondo UMLS:C4479431|OMIM:617412 BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}). http://identifiers.org/omim/617412|UMLS:C4479431 http://purl.obolibrary.org/obo/MONDO_0044311 brachycephaly, trichomegaly, and developmental delay; BTDD|BTDD|Macinnes syndrome MONDO:0009981 obsolete retinitis pigmentosa type 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009981 MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia biolink:Disease mondo OMIM:267900|GARD:0002383|UMLS:C2930961|MESH:C535638 http://identifiers.org/omim/267900|UMLS:C2930961|MESH:C535638 http://purl.obolibrary.org/obo/MONDO_0009980 Frenkel Russe syndrome|retinal telangiectasia associated with hypogammaglobulinemia|retinal telangiectasia and hypogammaglobulinemia MONDO:0044310 Diamond-Blackfan anemia 17 biolink:Disease mondo OMIM:617409|UMLS:C4479428 http://identifiers.org/omim/617409|UMLS:C4479428 http://purl.obolibrary.org/obo/MONDO_0044310 DBA17|Diamond-Blackfan anemia 17; DBA17 MONDO:0044309 Diamond-Blackfan anemia 16 biolink:Disease mondo OMIM:617408|UMLS:C4479424 UMLS:C4479424|http://identifiers.org/omim/617408 http://purl.obolibrary.org/obo/MONDO_0044309 DBA16|Diamond-Blackfan anemia 16; DBA16 MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome biolink:Disease mondo OMIM:601027|GARD:0005210|Orphanet:3328|MESH:C563403|SCTID:733068001 Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. MESH:C536918|MESH:C563403|UMLS:C2931368|SNOMEDCT:733068001|http://identifiers.org/omim/601027|ORPHA:3328 http://purl.obolibrary.org/obo/MONDO_0010981 tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies|Holmes-Collins syndrome|absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies|tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies|Holmes Collins syndrome|tibia absent polydactyly arachnoid cyst ordo_malformation_syndrome|gard_rare MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism biolink:Disease mondo OMIM:601016|Orphanet:1678|MESH:C536177|UMLS:C1832874 UMLS:C1832874|ORPHA:1678|MESH:C536177|http://identifiers.org/omim/601016 http://purl.obolibrary.org/obo/MONDO_0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism|Dincsoy-Salih-Patel syndrome|Dincsoy syndrome GO:0044848 biological phase biolink:OntologyClass mondo A distinct period or stage in a biological process or cycle. http://purl.obolibrary.org/obo/GO_0044848 MONDO:0010983 dystonia 9 biolink:Disease mondo MESH:C563401|UMLS:C1832855|OMIM:601042|DOID:0090044|ICD10:G24.8|Orphanet:53583|SCTID:715564000 A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. UMLS:C1832855|DOID:0090044|MESH:C563401|ORPHA:53583|SNOMEDCT:715564000|http://identifiers.org/omim/601042 http://purl.obolibrary.org/obo/MONDO_0010983 choreoathetosis/spasticity, episodic|dystonia type 9|Cse choreoathetosis, paroxysmal, with episodic ataxia|dystonia 9|dystonia 9; DYT9|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|episodic choreoathetosis/spasticity|paroxysmal dystonic choreathetosis with episodic ataxia and spasticity|DYT9 ordo_disease MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination biolink:Disease mondo Orphanet:500545|OMIM:617393|UMLS:C4479333 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}). UMLS:C4479333|ORPHA:500545|http://identifiers.org/omim/617393 http://purl.obolibrary.org/obo/MONDO_0044306 NECFM|severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract|neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination; NECFM ordo_disease MONDO:0019317 follicular atrophoderma-basal cell carcinoma biolink:Disease mondo Orphanet:79459|UMLS:CN205972|ICD10:L98.8 ORPHA:79459|UMLS:CN205972 http://purl.obolibrary.org/obo/MONDO_0019317 ordo_clinical_subtype HGNC:17009 TRIOBP biolink:OntologyClass mondo http://identifiers.org/hgnc/17009 MONDO:0019316 maculopapular cutaneous mastocytosis biolink:Disease mondo Orphanet:79457|NCIT:C3433|UMLS:C0042111|ICDO:9740/1|ICD9:708.8|ICD10:Q82.2|SCTID:78745000|MedDRA:10046752|DOID:12309|GARD:0013079 Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. DOID:12309|ORPHA:79457|MEDDRA:10046752|NCIT:C3433|MESH:D014582|UMLS:C0042111|SNOMEDCT:78745000 http://purl.obolibrary.org/obo/MONDO_0019316 telangiectasia macularis eruptive perstans|telangiectatic cutaneous mastocytosis|urticaria pigmentosa/maculopapular cutaneous mastocytosis|UP/MPCM|Paucicellular mastocytosis|urticaria pigmentosa ordo_disease MONDO:0010982 ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin biolink:Disease mondo MESH:C563402|OMIM:601039|UMLS:C1832858|GARD:0002957 UMLS:C1832858|MESH:C563402|http://identifiers.org/omim/601039 http://purl.obolibrary.org/obo/MONDO_0010982 ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin|ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin MONDO:0044305 ectodermal dysplasia 13, hair/tooth type biolink:Disease mondo OMIM:617392|UMLS:C4479322 UMLS:C4479322|http://identifiers.org/omim/617392 http://purl.obolibrary.org/obo/MONDO_0044305 ECTD13|ectodermal dysplasia 13, hair/tooth type; ECTD13 MONDO:0019319 verrucous nevus biolink:Disease mondo SCTID:398723007|UMLS:C0362030|Orphanet:79467|ICD10:Q82.5|NCIT:C4674 A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings. ORPHA:79467|SNOMEDCT:398723007|NCIT:C4674|UMLS:C0362030 http://purl.obolibrary.org/obo/MONDO_0019319 verrucous Epidermal Nevus ordo_clinical_subtype MONDO:0010985 FAME1 biolink:Disease mondo MESH:C563399|OMIM:601068|UMLS:C1832841 UMLS:C1832841|MESH:C563399|http://identifiers.org/omim/601068 http://purl.obolibrary.org/obo/MONDO_0010985 benign adult familial myoclonic epilepsy 1|epilepsy, familial ADULT myoclonic, 1|cortical myoclonic tremor with epilepsy, familial, 1|epilepsy, familial ADULT myoclonic, 1; FAME1|FAME1 MONDO:0044308 bardet-biedl syndrome 21 biolink:Disease mondo OMIM:617406|UMLS:C4319932 BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). UMLS:C4319932|http://identifiers.org/omim/617406 http://purl.obolibrary.org/obo/MONDO_0044308 Bardet-Biedl syndrome 21; BBS21|BBS21 MONDO:0010984 Usher syndrome type 1D biolink:Disease mondo ICD10:H35.5|GARD:0005438|OMIM:601067|DOID:0110831 A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner. DOID:0110831|http://identifiers.org/omim/601067 http://purl.obolibrary.org/obo/MONDO_0010984 Usher syndrome type 1D|Usher syndrome, type 1D|Ush1D/F, Cdh23/Pcdh15, digenic|USHER syndrome, type ID; USH1D|USH1D|Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic|Usher syndrome type ID|USHER syndrome, type ID gard_rare MONDO:0019318 inflammatory linear verrucous epidermal nevus biolink:Disease mondo GARD:0005484|Orphanet:79466|UMLS:C0473574|ICD10:Q82.5|SCTID:399995006 SNOMEDCT:399995006|ORPHA:79466|UMLS:C0473574 http://purl.obolibrary.org/obo/MONDO_0019318 linear verrucose epidermal nevus|ILVEN|inflammatory linear verrucous epidermal naevus ordo_clinical_subtype MONDO:0019313 hereditary lymphedema biolink:Disease mondo ICD10:Q82.0|GARD:0007220|DOID:0050580|SCTID:254199006|ICD9:757.0|OMIMPS:153100|Orphanet:79452|SCTID:399889006 Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. ORPHA:79452|UMLS:C1704423|SNOMEDCT:254199006|SNOMEDCT:399889006|DOID:0050580 http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema 1|Nonne-Milroy lymphedema|lymphedema, hereditary|hereditary lymphedema|Milroy's disease|Nonne’s syndrome|Nonne-Milroy disease|congenital primary lymphedema|hereditary lymphedema type I|congenital hereditary lymphedema|Nonne-Milroy syndrome|early onset lymphedema ordo_disease MONDO:0019312 Hermansky-Pudlak syndrome biolink:Disease mondo MedDRA:10071775|Orphanet:79430|MESH:D022861|ICD10:E70.3|DOID:3753|GARD:0006643|NCIT:C37261|ICD10:E70.331|OMIMPS:203300|ICD9:270.2|SCTID:9311003 Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. DOID:3753|ORPHA:79430|MESH:D022861|NCIT:C37261|MEDDRA:10071775|SNOMEDCT:9311003 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky Pudlak syndrome|HPS|HPS (Hermansky Pudlak syndrome) ordo_disease MONDO:0019315 diffuse cutaneous mastocytosis biolink:Disease mondo Orphanet:79456|UMLS:C0024901|MedDRA:10012812|ICD10:Q82.2|ICDO:9740/1|GARD:0012686|DOID:3665|NCIT:C3218 Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM). DOID:3665|ORPHA:79456|UMLS:C0024901|NCIT:C3218|MEDDRA:10012812 http://purl.obolibrary.org/obo/MONDO_0019315 DCM|diffuse cutaneous maculopapulous mastocytosis|diffuse cutaneous mastocytosis ordo_disease MONDO:0019314 cutaneous mastocytoma biolink:Disease mondo Orphanet:79455|ICD10:Q82.2|GARD:0012687 Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin. ORPHA:79455|UMLS:C0343115|MESH:D054705 http://purl.obolibrary.org/obo/MONDO_0019314 cutaneous local mastocytoma|multiple mastocytoma|solitary mastocytoma ordo_disease MONDO:0019311 woolly hair nevus biolink:Disease mondo Orphanet:79414|UMLS:C0343114|SCTID:239124001|ICD10:D23.4 Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. SNOMEDCT:239124001|UMLS:C0343114|ORPHA:79414 http://purl.obolibrary.org/obo/MONDO_0019311 wooly hair nevus ordo_disease MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa biolink:Disease mondo Orphanet:79409|ICD10:Q81.2|UMLS:CN205951 Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area. UMLS:CN205951|ORPHA:79409 http://purl.obolibrary.org/obo/MONDO_0019310 inverse RDEB|RDEB-I|inverse recessive dystrophic epidermolysis bullosa|dystrophic epidermolysis bullosa inversa ordo_disease HGNC:20661 SLC25A26 biolink:OntologyClass mondo http://identifiers.org/hgnc/20661 MONDO:0007339 blepharo-cheilo-odontic syndrome biolink:Disease mondo SCTID:717911008|MESH:C536188|ICD10:Q87.8|UMLS:C1861536|OMIMPS:119580|GARD:0002071|Orphanet:1997|DOID:0080344 Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. http://identifiers.org/omim/119580|SNOMEDCT:717911008|DOID:0080344|UMLS:C1861536|MESH:C536188|ORPHA:1997 http://purl.obolibrary.org/obo/MONDO_0007339 ectropion inferior cleft lip and or palate|blepharocheilodontic syndrome 1; BCDS1|BCDS|ectropion inferior-cleft lip and or palate syndrome|lagophthalmia-cleft lip and palate syndrome|ectropion inferior-cleft lip and/or palate syndrome|blepharo-cheilo-dontic syndrome|blepharocheilodontic syndrome|Elschnig syndrome|Elsching syndrome|BCD syndrome|clefting, ectropion, and conical teeth|blepharocheilodontic syndrome; BCDS|lagophthalmia with bilateral cleft lip and palate|clefting-ectropion-conical teeth syndrome|BCDS1|ectropion, inferior, with cleft lip and/or palate|blepharocheilodontic syndrome 1|blepharo-cheilo-odontic syndrome ordo_malformation_syndrome|gard_rare|prototype_pattern HGNC:20665 SCN3B biolink:OntologyClass mondo http://identifiers.org/hgnc/20665 MONDO:0007337 cleft palate-lateral synechia syndrome biolink:Disease mondo ICD10:Q87.8|ICD9:759.89|GARD:0001391|SCTID:403772000|DOID:0080313|UMLS:C0795898|MESH:C563047|Orphanet:2016|OMIM:119550 Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner. MESH:C563047|ORPHA:2016|SNOMEDCT:403772000|DOID:0080313|UMLS:C0795898|http://identifiers.org/omim/119550 http://purl.obolibrary.org/obo/MONDO_0007337 cleft palate lateral synechia syndrome|syngnathia|Cpls syndrome|CPLS syndrome|cleft palate-lateral synechia syndrome ordo_malformation_syndrome|gard_rare MONDO:0022953 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency biolink:Disease mondo GARD:0001798 A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity. http://purl.obolibrary.org/obo/MONDO_0022953 1-pyrroline-5-carboxylate dehydrogenase activity disease|disorder of 1-pyrroline-5-carboxylate dehydrogenase activity|disorder of 1-pyrroline-5-carboxylate dehydrogenase activity gard_rare MONDO:0007338 cleft soft palate biolink:Disease mondo OMIM:119570|DOID:0110214|SCTID:253997002|MESH:C562950|ICD10:Q35.3|Orphanet:99772 Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. DOID:0110214|http://identifiers.org/omim/119570|MESH:C562950|SNOMEDCT:253997002|ORPHA:99772 http://purl.obolibrary.org/obo/MONDO_0007338 cleft velum palatinum|soft cleft palate|cleft velum|cleft soft palate ordo_morphological_anomaly MONDO:0009999 autosomal recessive Robinow syndrome biolink:Disease mondo OMIM:268310|MESH:C535863|DOID:0060764|Orphanet:1507|UMLS:C1849334|ICD10:Q87.1 Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. UMLS:C1849334|MESH:C535863|DOID:0060764|ORPHA:1507|http://identifiers.org/omim/268310 http://purl.obolibrary.org/obo/MONDO_0009999 costovertebral segmentation defect with mesomelia, formerly|costovertebral segmentation defect with mesomelia|Robinow syndrome, autosomal recessive; RRS|Covesdem syndrome, formerly|Robinow syndrome, autosomal recessive|Covesdem syndrome|RRS|COVESDEM syndrome|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals|costovertebral segmentation defect-mesomelia syndrome|Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly ordo_clinical_subtype MONDO:0044324 Al Kaissi syndrome biolink:Disease mondo OMIM:617694|UMLS:CN502749 Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}). UMLS:CN502749|http://identifiers.org/omim/617694 http://purl.obolibrary.org/obo/MONDO_0044324 Growth retardation, spine malformation, dysmorphic facies, and developmental delay|AL KAISSI syndrome; ALKAS|ALKAS MONDO:0009998 Richieri Costa-Pereira syndrome biolink:Disease mondo OMIM:268305|GARD:0004718|MESH:C535677|Orphanet:3102|SCTID:723998001|ICD10:Q87.8|UMLS:C1849348 Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. UMLS:C1849348|ORPHA:3102|SNOMEDCT:723998001|http://identifiers.org/omim/268305|MESH:C535677 http://purl.obolibrary.org/obo/MONDO_0009998 short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome|short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|ROBIN sequence with cleft mandible and limb anomalies|Richieri-Costa-Pereira syndrome|Richieri-Costa and Pereira form of acrofacial dysostosis|short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot|Richieri Costa Pereira syndrome gard_rare|ordo_malformation_syndrome MONDO:0010965 autosomal recessive nonsyndromic deafness 6 biolink:Disease mondo MESH:C563418|UMLS:C1832992|ICD10:H90.3|OMIM:600971|DOID:0110512 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene. UMLS:C1832992|http://identifiers.org/omim/600971|DOID:0110512|MESH:C563418 http://purl.obolibrary.org/obo/MONDO_0010965 autosomal recessive nonsyndromic deafness type 6|deafness, autosomal recessive 6|autosomal recessive deafness 6|DFNB6|deafness, autosomal recessive type 6|autosomal recessive nonsyndromic deafness caused by mutation in TMIE|deafness, autosomal recessive 6; DFNB6|TMIE autosomal recessive nonsyndromic deafness|neurosensory nonsyndromic recessive deafness 6 clingen MONDO:0007335 orofacial cleft 1 biolink:Disease mondo MESH:C566121|OMIM:119530|UMLS:C1861537|NCIT:C124838 Cleft lip with or without cleft palate mapped to chromosome 6p24. NCIT:C124838|MESH:C566121|UMLS:C1861537|http://identifiers.org/omim/119530 http://purl.obolibrary.org/obo/MONDO_0007335 OFC1|cleft Lip/palate, nonsyndromic|orofacial cleft 1; OFC1|cleft lip with or without cleft palate, nonsyndromic, 1|orofacial cleft, nonsyndromic|orofacial cleft 1 GO:0044853 plasma membrane raft biolink:OntologyClass mondo A membrane raft that is part of the plasma membrane. http://purl.obolibrary.org/obo/GO_0044853 MONDO:0009997 Roberts syndrome biolink:Disease mondo ICD10:Q73.8|OMIM:268300|Orphanet:3103|MESH:C535687|SCTID:48718006|NCIT:C126326|GARD:0007387|DOID:5325 Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS. ORPHA:3103|UMLS:C0392475|SNOMEDCT:48718006|DOID:5325|http://identifiers.org/omim/268300|MESH:C535687|NCIT:C126326 http://purl.obolibrary.org/obo/MONDO_0009997 RBS|pseudothalidomide syndrome|SC pseudothalidomide syndrome|Roberts syndrome/SC phocomelia|SC phocomelia|SC phocomelia syndrome (mild variant of Roberts syndrome)|long bone deficiencies associated with cleft LIP-palate|Roberts syndrome|Roberts tetraphocomelia syndrome|ROBERTS syndrome; RBS|Roberts-SC phocomelia syndrome|Tetraphocomelia-cleft palate syndrome|Appelt-Gerken-Lenz syndrome|long bone deficiencies associated with cleft Lip-palate ordo_malformation_syndrome MONDO:0044323 Rahman syndrome biolink:Disease mondo OMIM:617537|UMLS:C4479637 Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}). http://identifiers.org/omim/617537|UMLS:C4479637 http://purl.obolibrary.org/obo/MONDO_0044323 Rahman syndrome; RMNS|RMNS MONDO:0007336 isolated cleft palate biolink:Disease mondo ICD10:Q35.7|ICD10:Q35.3|ICD10:Q35.5|DOID:0110213|ICD10:Q35.1|OMIM:119540|UMLS:CN234898|GARD:0001896|ICD10:Q35.9 A cleft palate that is not part of a larger syndrome. UMLS:CN234898|DOID:0110213|http://identifiers.org/omim/119540 http://purl.obolibrary.org/obo/MONDO_0007336 nonsyndromic cleft palate|cleft palate|cleft palate, isolated; CPI|dominant cleft palate|cleft palate, isolated|CPI gard_rare MONDO:0010964 epiphyseal dysplasia, multiple, 3 biolink:Disease mondo OMIM:600969|DOID:0070304|GARD:0009792|MESH:C535503|UMLS:C1832998 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene. DOID:0070304|http://identifiers.org/omim/600969|UMLS:C1832998|MESH:C535503 http://purl.obolibrary.org/obo/MONDO_0010964 EDM3|COL9A3 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, 3|epiphyseal dysplasia multiple 3|epiphyseal dysplasia, multiple, 3; EDM3|epiphyseal dysplasia, multiple, type 3|epiphyseal dysplasia, multiple, 3, with myopathy|multiple epiphyseal dysplasia 3|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3 gard_rare MONDO:0009996 rhizomelic syndrome, Urbach type biolink:Disease mondo ICD10:Q87.1|Orphanet:3098|MESH:C537611|OMIM:268250|GARD:0004705|UMLS:C1849382 Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. UMLS:C1849382|ORPHA:3098|MESH:C537611|http://identifiers.org/omim/268250 http://purl.obolibrary.org/obo/MONDO_0009996 rhizomelic dysplasia, familial|rhizomelic syndrome|familial rhizomelic dysplasia ordo_malformation_syndrome MONDO:0007333 van der Woude syndrome 1 biolink:Disease mondo OMIM:119300 Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene. http://identifiers.org/omim/119300 http://purl.obolibrary.org/obo/MONDO_0007333 lip-pit syndrome|van der Woude syndrome 1|Vdws|cleft lip and/or palate with mucous cysts of Lower lip|VWS1|IRF6 van der Woude syndrome|van der Woude syndrome caused by mutation in IRF6|Van Der Woude syndrome type 1|VAN DER Woude syndrome 1; VWS1 MONDO:0044326 developmental delay and seizures with or without movement abnormalities biolink:Disease mondo OMIM:617836|UMLS:CN769090 DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}). http://identifiers.org/omim/617836|UMLS:CN769090 http://purl.obolibrary.org/obo/MONDO_0044326 developmental delay and seizures with or without movement abnormalities; DEDSM|DEDSM MONDO:0010967 autosomal recessive nonsyndromic deafness 7 biolink:Disease mondo DOID:0110520|UMLS:C1832978|MESH:C563417|ICD10:H90.3|OMIM:600974 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. http://identifiers.org/omim/600974|UMLS:C1832978|DOID:0110520|MESH:C563417 http://purl.obolibrary.org/obo/MONDO_0010967 autosomal recessive deafness 7|deafness, autosomal recessive 11|deafness, autosomal recessive 7|autosomal recessive nonsyndromic deafness type 7|DFNB7|autosomal recessive nonsyndromic deafness caused by mutation in TMC1|deafness, autosomal recessive type 7|TMC1 autosomal recessive nonsyndromic deafness|DFNB11|deafness, autosomal recessive 7; DFNB7 GO:0044851 hair cycle phase biolink:OntologyClass mondo The cyclical periods of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. http://purl.obolibrary.org/obo/GO_0044851 MONDO:0009995 obsolete rheumatic fever-related antigen biolink:Disease mondo OMIM:268240 http://identifiers.org/omim/268240 http://purl.obolibrary.org/obo/MONDO_0009995 rheumatic fever-related antigen|rheumatic fever, acute, susceptibility to MONDO:0007334 autosomal dominant popliteal pterygium syndrome biolink:Disease mondo SCTID:718222000|Orphanet:1300|ICD10:Q87.2|GARD:0003242|OMIM:119500|UMLS:CN199177 Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. SNOMEDCT:718222000|ORPHA:1300|http://identifiers.org/omim/119500|UMLS:CN199177 http://purl.obolibrary.org/obo/MONDO_0007334 PPS|cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies|popliteal pterygium syndrome|popliteal pterygium syndrome, autosomal dominant|faciogenitopopliteal syndrome|popliteal pterygium syndrome; PPS|popliteal web syndrome|cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies|facio-genito-popliteal syndrome ordo_malformation_syndrome MONDO:0010966 achondrogenesis type IB biolink:Disease mondo Orphanet:93298|ICD10:Q77.0|OMIM:600972|GARD:0000460|DOID:0080055 Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. ORPHA:93298|DOID:0080055|UMLS:C0265274|http://identifiers.org/omim/600972|MESH:C536016 http://purl.obolibrary.org/obo/MONDO_0010966 achondrogenesis, type IB; ACG1B|achondrogenesis, Fraccaro type|Fraccaro achondrogenesis|achondrogenesis, Parenti-Fraccaro type|achondrogenesis, type IB|ACG1B|achondrogenesis, type 1B|achondrogenesis type 1B|achondrogenesis Fraccaro type ordo_clinical_subtype MONDO:0044325 Fanconi anemia, complementation group W biolink:Disease mondo UMLS:CN653907|OMIM:617784 http://identifiers.org/omim/617784|UMLS:CN653907 http://purl.obolibrary.org/obo/MONDO_0044325 FANCW|Fanconi anemia, complementation group W; FANCW MONDO:0009994 alveolar rhabdomyosarcoma (disease) biolink:Disease mondo ICD10:C49.9|ICDO:8920/3|ICD9:171.9|EFO:0000248|ONCOTREE:ARMS|SCTID:404053004|OMIM:268220|NCIT:C3749|DOID:4051|UMLS:C0206655|MESH:D018232|MedDRA:10065867|GARD:0004701|HP:0006779|Orphanet:99756 A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities. SNOMEDCT:404053004|NCIT:C3749|DOID:4051|MEDDRA:10065867|ORPHA:99756|http://identifiers.org/omim/268220|UMLS:C0206655|MESH:D018232 http://purl.obolibrary.org/obo/MONDO_0009994 rhabdomyosarcoma type 2|alveolar childhood rhabdomyosarcoma|rhabdomyosarcoma 2|rhabdomyosarcoma, alveolar|monomorphous round cell rhabdomyosarcoma|arms|alveolar rhabdomyosarcoma (morphologic abnormality)|pediatric alveolar rhabdomyosarcoma|alveolar rhabdomyosarcoma|RMS2|rhabdomyosarcoma 2; RMS2|rhabdomyosarcoma alveolar ordo_clinical_subtype MONDO:0010969 cone-rod dystrophy 5 biolink:Disease mondo MESH:C563415|DOID:0111010|UMLS:C1832976|GARD:0010655|OMIM:600977 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene. MESH:C563415|http://identifiers.org/omim/600977|DOID:0111010|UMLS:C1832976 http://purl.obolibrary.org/obo/MONDO_0010969 CORD5|PITPNM3 cone-rod dystrophy|cone-rod dystrophy 5; CORD5|cone-rod dystrophy type 5|cone-rod dystrophy caused by mutation in PITPNM3|cone-rod dystrophy 5 gard_rare MONDO:0007331 cleft chin biolink:Disease mondo OMIM:119000 http://identifiers.org/omim/119000 http://purl.obolibrary.org/obo/MONDO_0007331 Chin dimple|cleft chin MONDO:0044320 retinitis pigmentosa 79 biolink:Disease mondo OMIM:617460|UMLS:C4479526 http://identifiers.org/omim/617460|UMLS:C4479526 http://purl.obolibrary.org/obo/MONDO_0044320 retinitis pigmentosa 79; RP79|RP79 MONDO:0010968 GLC3B biolink:Disease mondo UMLS:C1832977|GARD:0002490|MESH:C536824|OMIM:600975 http://identifiers.org/omim/600975|UMLS:C1832977|MESH:C536824 http://purl.obolibrary.org/obo/MONDO_0010968 glaucoma primary congenita type 3B|Glc3, type B|primary congenital glaucoma|GLC3 type B|glaucoma, primary congenital, type B|glaucoma 3, primary infantile, B|GLC3B|primary congenital glaucoma type 3B|glaucoma 3 primary infantile B|glaucoma 3, primary infantile, B; GLC3B gard_rare MONDO:0007332 SHFLD1 biolink:Disease mondo OMIM:119100|MESH:C536425 http://identifiers.org/omim/119100|MESH:C536425 http://purl.obolibrary.org/obo/MONDO_0007332 tibial aplasia with split-hand/split-foot deformity|split-hand/foot malformation with long bone deficiency 1|SHFLD1|ectrodactyly with aplasia of long bones|tibial aplasia with split-hand-split-foot deformity|split-hand/foot malformation with long bone deficiency|split-hand/foot malformation with long bone deficiency 1; SHFLD1|split-hand-foot malformation with long bone deficiency|SHFLD|cleft hand absent tibia|aplasia of tibia with ectrodactyly|cleft hand and absent tibia MONDO:0009993 embryonal rhabdomyosarcoma (disease) biolink:Disease mondo HP:0006743|ICD10:C49.9|ICDO:8910/3|ICD9:171.9|GARD:0004702|EFO:0000437|UMLS:C0206656|ONCOTREE:ERMS|Orphanet:99757|MedDRA:10065868|OMIM:268210|NCIT:C8971|DOID:3246|SCTID:404051002 A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. SNOMEDCT:404051002|ORPHA:99757|MEDDRA:10065868|http://identifiers.org/omim/268210|DOID:3246|UMLS:C0206656|NCIT:C8971|MESH:D018233 http://purl.obolibrary.org/obo/MONDO_0009993 embryonal rhabdomyosarcoma|rhabdomyosarcoma embryonal|rhabdomyosarcoma, embryonal, type 1|rhabdomyosarcoma chromosomal region|ERMS|rhabdomyosarcoma, embryonal, 1; RMSE1|rhabdomyosarcoma 1|rhabdomyosarcoma, embryonal, 1|spindle cell rhabdomyosarcomas (type of ERMS)|RMSE1|botryoid rhabdomyosarcoma (type of ERMS) ordo_clinical_subtype MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive biolink:Disease mondo MESH:C564832|OMIM:268200|UMLS:C1849386 http://identifiers.org/omim/268200|MESH:C564832|UMLS:C1849386 http://purl.obolibrary.org/obo/MONDO_0009992 myoglobinuria, acute recurrent, autosomal recessive|myoglobinuria, familial paroxysmal paralytic|rhabdomyolysis, acute recurrent MONDO:0044322 intellectual developmental disorder with neuropsychiatric features biolink:Disease mondo OMIM:617532|UMLS:C4479636 Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}). http://identifiers.org/omim/617532|UMLS:C4479636 http://purl.obolibrary.org/obo/MONDO_0044322 intellectual developmental disorder with neuropsychiatric features; IDDNPF|IDDNPF MONDO:0007330 congenital pseudoarthrosis of clavicle biolink:Disease mondo Orphanet:66630|MESH:C562548|ICD10:Q74.0|SCTID:70794004|OMIM:118980 Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle. http://identifiers.org/omim/118980|MESH:C562548|SNOMEDCT:70794004|UMLS:C0265565|ORPHA:66630 http://purl.obolibrary.org/obo/MONDO_0007330 congenital pseudoarthrosis of the clavicle|congenital pseudarthrosis of the clavicle|clavicle, pseudarthrosis of, congenital ordo_disease MONDO:0044321 structural heart defects and renal anomalies syndrome biolink:Disease mondo OMIM:617478|UMLS:C4479549 http://identifiers.org/omim/617478|UMLS:C4479549 http://purl.obolibrary.org/obo/MONDO_0044321 structural heart defects and renal anomalies syndrome; SHDRA|SHDRA MONDO:0009991 obsolete Rh deficiency syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009991 MONDO:0009990 Revesz syndrome biolink:Disease mondo Orphanet:3088|OMIM:268130|NCIT:C152064|MESH:C538371|DOID:0070026|GARD:0004695|UMLS:C1327916|SCTID:723512008 Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. DOID:0070026|ORPHA:3088|NCIT:C152064|MESH:C538371|http://identifiers.org/omim/268130|UMLS:C1327916|SNOMEDCT:723512008 http://purl.obolibrary.org/obo/MONDO_0009990 Revesz syndrome|dyskeratosis congenita with bilateral exudative retinopathy|DKCA5|dyskeratosis congenita, autosomal dominant 5|retinopathy-anemia-central nervous system anomalies syndrome|exudative retinopathy with bone marrow failure|Revesz-DeBuse syndrome gard_rare|ordo_malformation_syndrome MONDO:0019309 late-onset junctional epidermolysis bullosa biolink:Disease mondo Orphanet:79406|SCTID:719432000|UMLS:C4304724|ICD10:Q81.8|UMLS:CN205949|GARD:0012921 Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood. UMLS:C4304724|ORPHA:79406|UMLS:CN205949|SNOMEDCT:719432000 http://purl.obolibrary.org/obo/MONDO_0019309 JEB-lo|EB progressive gard_rare|ordo_disease MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies biolink:Disease mondo MESH:C563414|OMIM:600987|UMLS:C1832950 http://identifiers.org/omim/600987|UMLS:C1832950|MESH:C563414 http://purl.obolibrary.org/obo/MONDO_0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|cleft palate, CARDIAC defects, and mental retardation; CPCMR|CPCMR|cleft palate, Cardiac defects, and mental retardation|cleft palate, CARDIAC defects, and intellectual disability; CPCMR|cleft palate, Cardiac defects, and intellectual disability MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome biolink:Disease mondo OMIM:600991|Orphanet:2180|SCTID:721229003|GARD:0005518|MESH:C536461|ICD10:Q87.8 This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. SNOMEDCT:721229003|ORPHA:2180|http://identifiers.org/omim/600991|MESH:C536461|UMLS:C2931197 http://purl.obolibrary.org/obo/MONDO_0010972 Waaler-Aarskog syndrome|hydrocephalus, Sprengel anomaly, and costovertebral dysplasia|Ferlini-Ragno-Calzolari syndrome|hydrocephalus, costovertebral dysplasia, and Sprengel anomaly|hydrocephalus, skeletal anomalies, and mental disturbance ordo_malformation_syndrome MONDO:0019306 congenital non-bullous ichthyosiform erythroderma biolink:Disease mondo Orphanet:79394|DOID:1699|HP:0007431|SCTID:205550003|ICD10:Q80.2 Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body. ORPHA:79394|DOID:1699|SNOMEDCT:205550003|UMLS:C0079154 http://purl.obolibrary.org/obo/MONDO_0019306 lamellar desquamation of the newborn|erythrodermic ichthyosis|congenital ichthyosiform erythroderma|lamellar ichthyosis|nonbullous congenital ichthyosiform erythroderma|congenital ichthyosiform erythroderma (disease)|non-bullous congenital ichthyosiform erythroderma|ichthyosiform erythroderma|congenital non bullous ichthyosiform erythroderma|CIE|alligator skin ordo_disease MONDO:0044317 premature ovarian failure 13 biolink:Disease mondo OMIM:617442|UMLS:C4479510 UMLS:C4479510|http://identifiers.org/omim/617442 http://purl.obolibrary.org/obo/MONDO_0044317 POF13|premature ovarian failure 13; POF13 MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome biolink:Disease mondo UMLS:C1832949|MESH:C535528|SCTID:725905005|GARD:0003005|Orphanet:1849|OMIM:600989 Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. http://identifiers.org/omim/600989|UMLS:C1832949|ORPHA:1849|MESH:C535528|SNOMEDCT:725905005 http://purl.obolibrary.org/obo/MONDO_0010971 infundibulopelvic dysgenesis ordo_malformation_syndrome MONDO:0019305 immune deficiency with skin involvement biolink:Disease mondo Orphanet:79391 ORPHA:79391 http://purl.obolibrary.org/obo/MONDO_0019305 ordo_group_of_disorders MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis biolink:Disease mondo UMLS:C4479504|OMIM:617441 UMLS:C4479504|http://identifiers.org/omim/617441 http://purl.obolibrary.org/obo/MONDO_0044316 thrombocytopenia, anemia, and myelofibrosis; THAMY|THAMY HGNC:17019 PRICKLE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17019 MONDO:0019308 junctional epidermolysis bullosa inversa biolink:Disease mondo Orphanet:79405|UMLS:C2673609|GARD:0002143|UMLS:C2673610|ICD10:Q81.8 Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina. ORPHA:79405|UMLS:C2673610|UMLS:C2673609 http://purl.obolibrary.org/obo/MONDO_0019308 JEB-I|EBJ-I|inverse JEB ordo_disease MONDO:0010974 nephrotic syndrome, type 2 biolink:Disease mondo GARD:0003946|OMIM:600995 Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. http://identifiers.org/omim/600995 http://purl.obolibrary.org/obo/MONDO_0010974 nephrotic syndrome, type 2; NPHS2|NPHS2 nephrotic syndrome|nephrotic syndrome, type 2|SRN1|NPHS2|nephrotic syndrome caused by mutation in NPHS2|nephrotic syndrome, steroid-resistant, autosomal recessive|nephrotic syndrome, idiopathic, steroid-resistant MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies biolink:Disease mondo Orphanet:505237|OMIM:617452|UMLS:C4479520 IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}). UMLS:C4479520|http://identifiers.org/omim/617452|ORPHA:505237 http://purl.obolibrary.org/obo/MONDO_0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies; IDDFSDA|IDDFSDA ordo_malformation_syndrome MONDO:0010973 autosomal dominant nonsyndromic deafness 5 biolink:Disease mondo ICD10:H90.3|MESH:C563410|OMIM:600994|UMLS:C1832932|DOID:0110575 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene. UMLS:C1832932|http://identifiers.org/omim/600994|DOID:0110575|MESH:C563410 http://purl.obolibrary.org/obo/MONDO_0010973 autosomal dominant nonsyndromic deafness caused by mutation in GSDME|DFNA5|autosomal dominant deafness 5|autosomal dominant nonsyndromic deafness type 5|GSDME autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 5|deafness, autosomal dominant type 5|deafness, autosomal dominant 5; DFNA5 MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type biolink:Disease mondo SCTID:724225008|GARD:0012922|Orphanet:79402|DOID:0060738|ICD10:Q81.8 Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. ORPHA:79402|SNOMEDCT:724225008|DOID:0060738 http://purl.obolibrary.org/obo/MONDO_0019307 JEN-nH|GABEB|JEB, generalized intermediate|junctional epidermolysis bullosa non-Herlitz type|generalized atrophic benign epidermolysis bullosa|JEB-nH gen|generalized junctional epidermolysis bullosa, non-Herlitz type|junctional epidermolysis bullosa, generalized intermediate|junctional epidermolysis bullosa, Disentis type|junctional epidermolysis bullosa generalisata mitis ordo_clinical_subtype MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold biolink:Disease mondo UMLS:C4479517|OMIM:617450 IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}). UMLS:C4479517|http://identifiers.org/omim/617450 http://purl.obolibrary.org/obo/MONDO_0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold; IDDGIP|IDDGIP MONDO:0019302 mucopolysaccharidosis with skin involvement biolink:Disease mondo Orphanet:79388 ORPHA:79388 http://purl.obolibrary.org/obo/MONDO_0019302 MPS with skin involvement ordo_group_of_disorders MONDO:0019301 metabolic disease with skin involvement biolink:Disease mondo Orphanet:79387|UMLS:CN205935 ORPHA:79387|UMLS:CN205935 http://purl.obolibrary.org/obo/MONDO_0019301 ordo_group_of_disorders MONDO:0019304 rare photodermatosis biolink:Disease mondo Orphanet:79390|UMLS:C0920193 UMLS:C0920193|ORPHA:79390 http://purl.obolibrary.org/obo/MONDO_0019304 rare skin photosensitivity obsoletion_candidate|ordo_group_of_disorders MONDO:0022945 deafness peripheral neuropathy arterial disease biolink:Disease mondo GARD:0001701 http://purl.obolibrary.org/obo/MONDO_0022945 gard_rare MONDO:0019303 premature aging syndrome biolink:Disease mondo Orphanet:79389|MedDRA:10063493|MESH:D019588 Changes in the organism associated with senescence, occurring at an accelerated rate. MEDDRA:10063493|ORPHA:79389|MESH:D019588|UMLS:C0231341 http://purl.obolibrary.org/obo/MONDO_0019303 premature aging ordo_group_of_disorders MONDO:0022946 deafness progressive cataract autosomal dominant biolink:Disease mondo GARD:0001702 http://purl.obolibrary.org/obo/MONDO_0022946 gard_rare MONDO:0022948 deal barratt dillon syndrome biolink:Disease mondo UMLS:C2931773|MESH:C538206 UMLS:C2931773|MESH:C538206 http://purl.obolibrary.org/obo/MONDO_0022948 Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea MONDO:0019300 obsolete rare skin tumor or hamartoma biolink:Disease mondo UMLS:CN205934|Orphanet:79386 ORPHA:79386|UMLS:CN205934 http://purl.obolibrary.org/obo/MONDO_0019300 ordo_group_of_disorders MONDO:0022949 defective apolipoprotein b-100 biolink:Disease mondo GARD:0001720 http://purl.obolibrary.org/obo/MONDO_0022949 gard_rare MONDO:0019371 narcolepsy without cataplexy biolink:Disease mondo ICD10:G47.4|EFO:0005855|ICD10:G47.419|Orphanet:83465|UMLS:C1456240|SCTID:91521000119104|ICD9:347.00|UMLS:CN206062 Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior. UMLS:CN206062|ORPHA:83465|UMLS:C1456240|SNOMEDCT:91521000119104 http://purl.obolibrary.org/obo/MONDO_0019371 ordo_disease MONDO:0020360 complete cryptophthalmia biolink:Disease mondo Orphanet:98949|ICD10:Q11.2 ORPHA:98949 http://purl.obolibrary.org/obo/MONDO_0020360 ordo_clinical_subtype MONDO:0019370 vulvovaginal gingival syndrome biolink:Disease mondo UMLS:C3873472|Orphanet:83453|ICD10:L43.8|UMLS:CN206058|SCTID:707250009 UMLS:C3873472|UMLS:CN206058|ORPHA:83453|SNOMEDCT:707250009 http://purl.obolibrary.org/obo/MONDO_0019370 ordo_disease MONDO:0019373 desmoplastic small round cell tumor biolink:Disease mondo MedDRA:10064587|MedDRA:10064581|UMLS:C0281508|MESH:D058405|ONCOTREE:DSRCT|ICDO:8806/3|ICD10:C48.2|GARD:0006265|NCIT:C8300|Orphanet:83469|EFO:1000895|HGNC:12796 Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. MEDDRA:10064581|NCIT:C8300|UMLS:C0281508|ORPHA:83469|MESH:D058405 http://purl.obolibrary.org/obo/MONDO_0019373 Desmoplastic small round-cell tumor|DSRCT|Desmoplas. small round cell tumor|Desmoplastic small round cell tumor|desmoplastic small round cell tumor|Desmoplastic small round-cell neoplasm|Polyphenotypic small round cell tumor|desmoplastic small-round-cell tumor ordo_disease|gard_rare MONDO:0019372 solitary bone cyst biolink:Disease mondo ICD9:733.21|COHD:72421|NCIT:C2904|ICD10:M85.4|MESH:D001845|SCTID:203467005|Orphanet:83468 A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported. MESH:D001845|ORPHA:83468|SNOMEDCT:203467005|NCIT:C2904 http://purl.obolibrary.org/obo/MONDO_0019372 bone cyst|cyst of the bone|solitary cyst|unicameral bone cyst|simple bone cyst|cyst of bone ordo_disease MONDO:0020368 Axenfeld anomaly biolink:Disease mondo SCTID:204152008|ICD9:743.44|ICD10:Q15.0|MedDRA:10058653|Orphanet:98978 Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies. ORPHA:98978|MEDDRA:10058653|SNOMEDCT:204152008|UMLS:C0266548 http://purl.obolibrary.org/obo/MONDO_0020368 ordo_morphological_anomaly MONDO:0020367 juvenile open angle glaucoma biolink:Disease mondo ICD9:365.14|UMLS:C2981140|SCTID:71111008|Orphanet:98977|MedDRA:10064032|COHD:433767|DOID:1068 Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. ORPHA:98977|DOID:1068|SNOMEDCT:71111008|MEDDRA:10064032|UMLS:C2981140 http://purl.obolibrary.org/obo/MONDO_0020367 pediatric glaucoma (disease)|juvenile glaucoma|JOAG|glaucoma of childhood|childhood glaucoma (disease)|glaucoma (disease) of childhood|pediatric glaucoma (disease) ordo_disease MONDO:0007388 congenitally short costocoracoid ligament biolink:Disease mondo OMIM:122580|ICD10:Q68.8|Orphanet:2391|GARD:0001551|SCTID:725101002|MESH:C536448 Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. ORPHA:2391|SNOMEDCT:725101002|MESH:C536448|http://identifiers.org/omim/122580|UMLS:C1852523 http://purl.obolibrary.org/obo/MONDO_0007388 fixation of the scapula to the first rib by a congenitally short costocoracoid ligament|congenital shortness of the costocoracoid ligament|costocoracoid ligament, congenitally short|costocoracoid ligament congenitally short ordo_malformation_syndrome|gard_rare MONDO:0020366 congenital glaucoma biolink:Disease mondo GARD:0002485|ICD10:Q15.0|SCTID:204113001|NCIT:C50648|Orphanet:98976 Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm. NCIT:C50648|SNOMEDCT:204113001|ORPHA:98976 http://purl.obolibrary.org/obo/MONDO_0020366 Buphthalmus|buphthalmia|primary congenital glaucoma|buphthalmos ordo_disease MONDO:0020365 congenital hereditary endothelial dystrophy type I biolink:Disease mondo SCTID:416633008|ICD10:H18.5|Orphanet:98975 Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision. http://identifiers.org/omim/121700|SNOMEDCT:416633008|UMLS:C1562689|ORPHA:98975 http://purl.obolibrary.org/obo/MONDO_0020365 CHED1|autosomal dominant congenital hereditary endothelial dystrophy|CHEDI|congenital hereditary endothelial dystrophy type 1|autosomal dominant CHED ordo_disease MONDO:0007389 spondylocostal dysostosis 5 biolink:Disease mondo UMLS:C4083048|GARD:0012806|OMIM:122600 Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene. UMLS:C4083048|http://identifiers.org/omim/122600 http://purl.obolibrary.org/obo/MONDO_0007389 spondylothoracic dysostosis|spondylocostal dysostosis type 5|spondylocostal dysplasia|polydysspondyly|spondylocostal dysostosis caused by mutation in TBX6|TBX6 spondylocostal dysostosis|spondylocostal dysostosis 5; SCDO5|scoliosis, congenital, with or without rib anomalies|SCDO5|spondylocostal dysostosis 5|costovertebral segmentation anomalies MONDO:0007386 obsolete human coronavirus sensitivity biolink:Disease mondo OMIM:122460 http://identifiers.org/omim/122460 http://purl.obolibrary.org/obo/MONDO_0007386 HCVS|human coronavirus sensitivity; HCVS|human coronavirus sensitivity|Coronavirus 229E susceptibility MONDO:0020364 posterior polymorphous corneal dystrophy biolink:Disease mondo UMLS:CN239252|Orphanet:98973|DOID:0060457|OMIMPS:122000|ICD10:H18.5 Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision. DOID:0060457|UMLS:CN239252|ORPHA:98973 http://purl.obolibrary.org/obo/MONDO_0020364 corneal dystrophy, posterior polymorphous|Schlichting dystrophy|PPCD|hereditary polymorphus posterior corneal dystrophy|posterior polymorphous dystrophy ordo_disease MONDO:0007387 Cornelia de Lange syndrome 1 biolink:Disease mondo OMIM:122470|ICD9:759.89|UMLS:CN029798|SCTID:40354009 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene. UMLS:CN029798|http://identifiers.org/omim/122470|SNOMEDCT:40354009 http://purl.obolibrary.org/obo/MONDO_0007387 Cdl|De Lange syndrome|CDLS1|Brachmann-De Lange syndrome|NIPBL Cornelia de Lange syndrome|Cornelia De Lange syndrome type 1|Cornelia DE Lange syndrome 1; CDLS1|typus Degenerativus Amstelodamensis|Cornelia de Lange syndrome 1|Cornelia de Lange syndrome caused by mutation in NIPBL MONDO:0020363 honey-droplet corneal dystrophy biolink:Disease mondo Orphanet:98958|ICD10:H18.5|UMLS:CN207218 ORPHA:98958|UMLS:CN207218 http://purl.obolibrary.org/obo/MONDO_0020363 ordo_disease MONDO:0007384 congenital trigeminal anesthesia biolink:Disease mondo SCTID:763218005|ICD10:G50.8|GARD:0010034|Orphanet:231013|MESH:C536440|OMIM:122450|UMLS:C1852541 Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). MESH:C536440|http://identifiers.org/omim/122450|UMLS:C1852541|ORPHA:231013|SNOMEDCT:763218005 http://purl.obolibrary.org/obo/MONDO_0007384 trigeminal anesthesia, familial|corneal hypesthesia, familial|familial trigeminal anesthesia ordo_disease MONDO:0020362 inverse Marcus-Gunn phenomenon biolink:Disease mondo UMLS:CN207213|ICD10:Q07.8|Orphanet:98951 Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported. ORPHA:98951|UMLS:CN207213 http://purl.obolibrary.org/obo/MONDO_0020362 ordo_clinical_subtype MONDO:0020361 partial cryptophthalmia biolink:Disease mondo Orphanet:98950|ICD10:Q11.2 ORPHA:98950 http://purl.obolibrary.org/obo/MONDO_0020361 ordo_clinical_subtype MONDO:0007385 idiopathic spontaneous coronary artery dissection biolink:Disease mondo UMLS:C1852540|ICD10:I25.4|MESH:C565153|OMIM:122455|Orphanet:458718 MESH:C565153|http://identifiers.org/omim/122455|ORPHA:458718|UMLS:C1852540 http://purl.obolibrary.org/obo/MONDO_0007385 idiopathic SCAD|coronary artery dissection, spontaneous ordo_disease MONDO:0007382 Ramos-Arroyo syndrome biolink:Disease mondo Orphanet:1051|GARD:0004636|MESH:C535286|OMIM:122430|UMLS:C2930866|ICD10:Q87.8 Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. MESH:C535286|http://identifiers.org/omim/122430|UMLS:C2930866|ORPHA:1051 http://purl.obolibrary.org/obo/MONDO_0007382 Ramos-Arroyo syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation|corneal anesthesia-deafness-intellectual disability syndrome|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|Ramos Arroyo Clark syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability ordo_malformation_syndrome MONDO:0007383 Stern-Lubinsky-Durrie syndrome biolink:Disease mondo ICD10:H18.5|MESH:C537488|Orphanet:3194|GARD:0001531|SCTID:723584003|OMIM:122440 Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait. MESH:C537488|MESH:C536444|http://identifiers.org/omim/122440|SNOMEDCT:723584003|UMLS:C2931506|UMLS:C1852542|ORPHA:3194 http://purl.obolibrary.org/obo/MONDO_0007383 Stern Lubinsky Durrie syndrome|CORNEODERMATOOSSEOUS syndrome|corneal dystrophy, epithelial, with skin and skeletal changes|Cdo syndrome|corneo-dermato-osseous syndrome|corneal dystrophy epithelial and short stature ordo_malformation_syndrome MONDO:0007380 lattice corneal dystrophy type I biolink:Disease mondo UMLS:C1690006|MESH:C537881|UMLS:CN207224|ICD10:H18.5|OMIM:122200|GARD:0009678|Orphanet:98964|SCTID:419197009 Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations. MESH:C537881|UMLS:C1690006|ORPHA:98964|SNOMEDCT:419197009|UMLS:CN207224|http://identifiers.org/omim/122200|UMLS:C2931650 http://purl.obolibrary.org/obo/MONDO_0007380 Lcd1|lattice corneal dystrophy, type 1|corneal dystrophy, lattice type 1|lattice corneal dystrophy type 1|LCD|LCDI|classic lattice corneal dystrophy|Biber-Haab-Dimmer dystrophy|corneal dystrophy, lattice type I|CDL1|corneal dystrophy, lattice type I; Lcd1 ordo_disease MONDO:0007381 epithelial recurrent erosion dystrophy biolink:Disease mondo SCTID:715908008|MESH:C565155|ICD10:H18.5|OMIM:122400|UMLS:C1852551|Orphanet:293381 Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision. MESH:C565155|http://identifiers.org/omim/122400|ORPHA:293381|UMLS:C1852551|SNOMEDCT:715908008 http://purl.obolibrary.org/obo/MONDO_0007381 recurrent hereditary corneal erosions|dystrophia Smolandiensis|dystrophia Helsinglandica|epithelial recurrent erosion dystrophy; ERED|epithelial recurrent erosion dystrophy|corneal erosions, recurring hereditary|ERED ordo_disease MONDO:0020359 congenital symblepharon biolink:Disease mondo ICD10:Q11.2|Orphanet:98948 ORPHA:98948 http://purl.obolibrary.org/obo/MONDO_0020359 ordo_clinical_subtype MONDO:0020358 coloboma of optic disc biolink:Disease mondo COHD:437292|ICD10:Q14.2|GARD:0001438|Orphanet:98947 Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal). ORPHA:98947 http://purl.obolibrary.org/obo/MONDO_0020358 coloboma of optic papilla ordo_morphological_anomaly MONDO:0019379 obsolete st. Louis encephalitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019379 MONDO:0019378 la Crosse encephalitis biolink:Disease mondo DOID:0050118|ICD9:062.5|ICD10:A83.5|MedDRA:10014584|GARD:0010925|Orphanet:83483|UMLS:C0014053|SCTID:61094002|MESH:D004670|UMLS:C0276379 La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits. SNOMEDCT:61094002|DOID:0050118|UMLS:C0276379|ORPHA:83483|MEDDRA:10014584|MESH:D004670|UMLS:C0014053 http://purl.obolibrary.org/obo/MONDO_0019378 Neuroinvasive California encephalitis virus infection|California encephalitis|Californian encephalitis|La Crosse virus caused infectious encephalitis|California virus encephalitis|La Crosse virus infectious encephalitis ordo_disease HGNC:20626 CHD7 biolink:OntologyClass mondo http://identifiers.org/hgnc/20626 MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome biolink:Disease mondo GARD:0010341|Orphanet:83473|SCTID:722036008|DC:0000669|OMIMPS:603387|ICD10:Q04.8 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. ORPHA:83473|SNOMEDCT:722036008 http://purl.obolibrary.org/obo/MONDO_0019375 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|MPPH syndrome|megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome|megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus ordo_malformation_syndrome MONDO:0019374 CAMOS syndrome biolink:Disease mondo GARD:0009977|ICD10:G11.1|SCTID:726031001|UMLS:C1847114|Orphanet:83472|UMLS:C4511633 CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. ORPHA:83472|http://identifiers.org/omim/606937|UMLS:C1847114|SNOMEDCT:726031001|UMLS:C4511633 http://purl.obolibrary.org/obo/MONDO_0019374 SCAR5|cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome|spinocerebellar ataxia autosomal recessive 5|CAMOS|cerebellar ataxia with mental retardation optic atrophy and skin abnormalities ordo_malformation_syndrome MONDO:0019377 Mycoplasma encephalitis biolink:Disease mondo ICD10:B96.0|Orphanet:83482 Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis). ORPHA:83482 http://purl.obolibrary.org/obo/MONDO_0019377 Mycoplasma pneumoniae caused infectious encephalitis|Mycoplasma pneumoniae infectious encephalitis ordo_disease MONDO:0019376 West-Nile encephalitis biolink:Disease mondo ICD10:A92.31|SCTID:392662004|DOID:2365|GARD:0009959|Orphanet:83476|EFO:0007545|ICD9:066.41|ICD10:A92.3 An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis. SNOMEDCT:392662004|ORPHA:83476|DOID:2365 http://purl.obolibrary.org/obo/MONDO_0019376 West Nile virus caused infectious encephalitis|West-Nile fever|West Nile virus infectious encephalitis|West Nile fever with encephalitis|West Nile fever encephalitis|West Nile encephalitis ordo_disease MONDO:0019360 rickettsialpox biolink:Disease mondo MedDRA:10039137|Orphanet:83312|SCTID:75096007|DOID:11103|ICD10:A79.1|ICD9:083.2|COHD:436035|UMLS:C0035597 ORPHA:83312|UMLS:C0035597|SNOMEDCT:75096007|DOID:11103|MEDDRA:10039137 http://purl.obolibrary.org/obo/MONDO_0019360 Rickettsia akari spotted fever|vesicular rickettsiosis ordo_disease MONDO:0019362 epidemic louse-borne typhus biolink:Disease mondo Orphanet:83314|ICD10:A75.0|NCIT:C84689|MedDRA:10014979|DOID:0050480 A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis. MESH:D014438|DOID:0050480|UMLS:C0041473|ORPHA:83314|MEDDRA:10014979|NCIT:C84689 http://purl.obolibrary.org/obo/MONDO_0019362 epidemic typhus|sylvatic typhus|epidemic louse-borne typhus|typhus|epidemic typhus fever ordo_disease MONDO:0019361 obsolete boutonneuse fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019361 NCBITaxon:29461 Brucella suis organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_29461 Brucella melitensis biovar Suis|Brucella melitensis bv. Suis MONDO:0020357 coloboma of eyelid biolink:Disease mondo UMLS:C0521573|ICD10:Q10.3|NCIT:C98878|Orphanet:98946|SCTID:95202004 A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. ORPHA:98946|SNOMEDCT:95202004|NCIT:C98878|UMLS:C0521573 http://purl.obolibrary.org/obo/MONDO_0020357 coloboma of the eyelid ordo_morphological_anomaly MONDO:0020356 coloboma of iris (disease) biolink:Disease mondo GARD:0001434|HP:0000612|NCIT:C98879|SCTID:9446007|MedDRA:10052642|ICD10:Q13.0|Orphanet:98944 A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. ORPHA:98944|NCIT:C98879|SNOMEDCT:9446007|MEDDRA:10052642 http://purl.obolibrary.org/obo/MONDO_0020356 coloboma of the iris|coloboma of iris ordo_morphological_anomaly MONDO:0020355 coloboma of eye lens biolink:Disease mondo GARD:0001433|ICD10:Q12.2|Orphanet:98943 ORPHA:98943|UMLS:C0344516 http://purl.obolibrary.org/obo/MONDO_0020355 ordo_morphological_anomaly|gard_rare MONDO:0007399 craniosynostosis 1 biolink:Disease mondo SCTID:57219006|OMIM:123100|UMLS:CN029978 UMLS:CN029978|SNOMEDCT:57219006|http://identifiers.org/omim/123100 http://purl.obolibrary.org/obo/MONDO_0007399 craniosynostosis 1; CRS1|craniosynostosis type 1|craniostenosis|CRS|craniosynostosis 1|CRS1 MONDO:0020354 coloboma of choroid and retina biolink:Disease mondo Orphanet:98942|GARD:0001432|SCTID:39302008|ICD10:Q14.8 Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated. ORPHA:98942|SNOMEDCT:39302008 http://purl.obolibrary.org/obo/MONDO_0020354 choroidal coloboma|retinal coloboma|retinochoroidal coloboma ordo_morphological_anomaly MONDO:0020353 von Hippel anomaly biolink:Disease mondo Orphanet:98941|ICD10:Q13.4 ORPHA:98941 http://purl.obolibrary.org/obo/MONDO_0020353 ordo_malformation_syndrome MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant biolink:Disease mondo OMIM:123000|MESH:C565145|UMLS:C1852502|GARD:0001581 MESH:C565145|http://identifiers.org/omim/123000|UMLS:C1852502 http://purl.obolibrary.org/obo/MONDO_0007397 CMDD|craniometaphyseal dysplasia, Jackson type|craniometaphyseal dysplasia Jackson type|craniometaphyseal dysplasia, autosomal dominant; CMDD|craniometaphyseal dysplasia, autosomal dominant|CMD|CMDJ MONDO:0007398 craniorhiny biolink:Disease mondo OMIM:123050|Orphanet:157832|MESH:C565144|UMLS:C1852501|ICD10:Q30.8 http://identifiers.org/omim/123050|MESH:C565144|ORPHA:157832|UMLS:C1852501 http://purl.obolibrary.org/obo/MONDO_0007398 craniorhiny ordo_malformation_syndrome MONDO:0020352 multiple system atrophy, parkinsonian type biolink:Disease mondo UMLS:CN207200|ICD10:G23.2|Orphanet:98933 Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability). UMLS:CN207200|ORPHA:98933 http://purl.obolibrary.org/obo/MONDO_0020352 MSA-p|MSA, parkinsonian type ordo_clinical_subtype MONDO:0007395 craniofacial-deafness-hand syndrome biolink:Disease mondo Orphanet:1529|MESH:C536453|SCTID:702362004|ICD10:Q87.0|ICD9:759.89|GARD:0001571|OMIM:122880 Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features. ORPHA:1529|MESH:C536453|http://identifiers.org/omim/122880|UMLS:C1852510|SNOMEDCT:702362004 http://purl.obolibrary.org/obo/MONDO_0007395 Sommer-Young-Wee-Frye syndrome|craniofacial deafness hand syndrome|features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss|craniofacial-deafness-hand syndrome; CDHS|craniofacial-deafness-hand syndrome|CDHS gard_rare|ordo_malformation_syndrome MONDO:0020351 Blake pouch cyst biolink:Disease mondo ICD10:Q03.1|Orphanet:98922 Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development. ORPHA:98922 http://purl.obolibrary.org/obo/MONDO_0020351 ordo_morphological_anomaly MONDO:0020350 obsolete Miller-Fisher syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020350 MONDO:0007396 dysostosis, Stanescu type biolink:Disease mondo Orphanet:1798|OMIM:122900|ICD10:Q78.8|GARD:0002016|MESH:C562974|SCTID:254124008|UMLS:C0432263 Stanescu type dysostosis is a rare form of osteosclerosis. SNOMEDCT:254124008|ORPHA:1798|UMLS:C0432263|http://identifiers.org/omim/122900|MESH:C562974 http://purl.obolibrary.org/obo/MONDO_0007396 craniofacial dysostosis with diaphyseal hyperplasia|craniofacial dysostosis-diaphyseal hyperplasia syndrome|Stanescu osteosclerosis|osteosclerosis, Stanescu type|autosomal dominant osteosclerosis, Stanescu type|dysostosis Stanescu type ordo_malformation_syndrome MONDO:0007393 cranioacrofacial syndrome biolink:Disease mondo MESH:C565147|Orphanet:1339|UMLS:C1852512|OMIM:122850 MESH:C565147|http://identifiers.org/omim/122850|UMLS:C1852512|ORPHA:1339 http://purl.obolibrary.org/obo/MONDO_0007393 Cranioacrofacial syndrome MONDO:0007394 obsolete craniodiaphyseal dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007394 MONDO:0007391 coxa vara (disease) biolink:Disease mondo EFO:1001298|HP:0002812|GARD:0008750|MESH:D060905|OMIM:122750 Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental. http://identifiers.org/omim/122750|MESH:D060905 http://purl.obolibrary.org/obo/MONDO_0007391 coxa vara, congenital|coxa vara MONDO:0007392 coxoauricular syndrome biolink:Disease mondo ICD10:Q87.1|UMLS:C1852513|OMIM:122780|SCTID:732248005|GARD:0001558|Orphanet:1508|MESH:C565148 Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. http://identifiers.org/omim/122780|UMLS:C1852513|SNOMEDCT:732248005|MESH:C565148|ORPHA:1508 http://purl.obolibrary.org/obo/MONDO_0007392 coxoauricular syndrome gard_rare|ordo_malformation_syndrome MONDO:0020349 acute motor axonal neuropathy biolink:Disease mondo SCTID:715770009|NCIT:C116929|ICD10:G61.0|UMLS:C3890941|Orphanet:98918|UMLS:CN207196 Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS). ORPHA:98918|UMLS:CN207196|NCIT:C116929|SNOMEDCT:715770009|UMLS:C3890941 http://purl.obolibrary.org/obo/MONDO_0020349 AMAN|acute pure motor Guillain-Barré syndrome|acute pure motor Guillain-BarrC) syndrome|acute pure motor GBS ordo_disease MONDO:0007390 coumarin resistance biolink:Disease mondo SCTID:726543008|OMIM:122700|GARD:0012639|GARD:0012721|UMLS:CN078029|UMLS:C0750384 UMLS:C0750384|UMLS:CN078029|http://identifiers.org/omim/122700|SNOMEDCT:726543008 http://purl.obolibrary.org/obo/MONDO_0007390 coumarin, poor metabolism of|coumarin sensitivity|warfarin resistance|coumarin resistance|warfarin sensitivity MONDO:0020348 acute motor and sensory axonal neuropathy biolink:Disease mondo ICD10:G61.0|NCIT:C116927|SCTID:716722005|Orphanet:98917|UMLS:CN207195 Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS). UMLS:CN207195|NCIT:C116927|ORPHA:98917|SNOMEDCT:716722005 http://purl.obolibrary.org/obo/MONDO_0020348 acute motor-sensory axonal GBS|AMSAN|acute motor-sensory axonal Guillain-BarrC) syndrome|acute motor-sensory axonal neuropathy|acute motor-sensory axonal Guillain-Barré syndrome ordo_disease MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy biolink:Disease mondo ICD10:G61.0|NCIT:C116926|Orphanet:98916|UMLS:CN207194 Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-BarrC) syndrome (GBS). ORPHA:98916|UMLS:CN207194|NCIT:C116926 http://purl.obolibrary.org/obo/MONDO_0020347 acute inflammatory polyneuropathy|acute inflammatory demyelinating polyradiculopathy|GBS, acute inflammatory demyelinating polyradiculoneuropathic form|AIDP|Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|acute idiopathic demyelinating polyneuropathy|Guillain-BarrC) syndrome, acute inflammatory demyelinating polyradiculoneuropathic form ordo_disease GO:0044877 protein-containing complex binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a macromolecular complex. http://purl.obolibrary.org/obo/GO_0044877 protein complex binding|macromolecular complex binding MONDO:0019368 florid cemento-osseous dysplasia biolink:Disease mondo SCTID:715634002|ICDO:9275/0|ICD10:D16.5|UMLS:C0555197|ICD10:D16.4|Orphanet:83451|GARD:0010173|MESH:C537063|NCIT:C8381 Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw. UMLS:C0555197|MESH:C537063|NCIT:C8381|SNOMEDCT:715634002|ORPHA:83451 http://purl.obolibrary.org/obo/MONDO_0019368 focal cemento-osseous dysplasia|florid osseous dysplasia|Gigantiform cementoma gard_rare|ordo_disease MONDO:0019367 regional odontodysplasia biolink:Disease mondo MESH:D018126|ICD10:K00.4|Orphanet:83450|SCTID:66063001 Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues. MESH:D018126|ORPHA:83450|SNOMEDCT:66063001 http://purl.obolibrary.org/obo/MONDO_0019367 ghost teeth ordo_disease MONDO:0019369 complex regional pain syndrome biolink:Disease mondo MedDRA:10064332|Orphanet:83452|GARD:0004647|DOID:3223|ICD10:M89.0|ICD10:G56.4|UMLS:C0458219|SCTID:128200000|MESH:D020918 Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb. MESH:D020918|MEDDRA:10064332|SNOMEDCT:128200000|UMLS:C0458219|DOID:3223|ORPHA:83452 http://purl.obolibrary.org/obo/MONDO_0019369 reflex sympathetic dystrophy|CRPS|Complex regional pain syndromes ordo_disease|gard_rare MONDO:0019364 pseudotyphus of California biolink:Disease mondo Orphanet:83316|SCTID:764104003|ICD10:A79.8 Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise. ORPHA:83316|SNOMEDCT:764104003 http://purl.obolibrary.org/obo/MONDO_0019364 ordo_disease MONDO:0019363 obsolete murine typhus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019363 MONDO:0019366 free sialic acid storage disease biolink:Disease mondo UMLS:C2931872|UMLS:CN206051|GARD:0010870|MedDRA:10067531|ICD10:E77.8|Orphanet:834|MESH:C538523|MedDRA:10067529 Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). MESH:C538523|UMLS:CN206051|ORPHA:834|UMLS:C2931872|MEDDRA:10067529|MEDDRA:10067531 http://purl.obolibrary.org/obo/MONDO_0019366 ordo_disease MONDO:0019365 scrub typhus biolink:Disease mondo EFO:0007480|ICD10:A75.3|ICD9:081.2|MedDRA:10039766|MESH:D012612|SCTID:271425001|DOID:13371|UMLS:C0036472|Orphanet:83317 Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious. DOID:13371|MESH:D012612|UMLS:C0036472|ORPHA:83317|SNOMEDCT:271425001|MEDDRA:10039766 http://purl.obolibrary.org/obo/MONDO_0019365 Kedani fever|chigger-borne typhus|chigger-borne rickettsiosis|tsutsugamushi|tropical typhus|tsutsugamushi fever|Mite-borne rickettsiosis|Japanese river fever|scrub (mite-borne) typhus|scrub mite-borne typhus|typhus fever due to Rickettsia tsutsugamushi|Mite-borne typhus|tsutsugamushi disease ordo_disease MONDO:0019351 isolated spina bifida biolink:Disease mondo ICD10:Q05.1|ICD10:Q05.0|GARD:0007673|Orphanet:823|ICD10:Q05.9|ICD10:Q05.8|MedDRA:10041524|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.3|ICD10:Q05.2 A spina bifida (disease) that is not part of a larger syndrome. MEDDRA:10041524|ORPHA:823|UMLS:C0080178 http://purl.obolibrary.org/obo/MONDO_0019351 isolated spina bifida (disease)|cleft spine|open spine|nonsyndromic spina bifida (disease) ordo_group_of_disorders MONDO:0019350 hereditary spherocytosis biolink:Disease mondo SCTID:55995005|GARD:0006639|MESH:D013103|NCIT:C97074|Orphanet:822|ICD9:282.0|ICD10:D58.0|DOID:12971|COHD:24909|UMLS:C0037889|MedDRA:10019904|UMLS:CN206031 Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. MESH:D013103|MESH:C536356|MEDDRA:10019904|ORPHA:822|UMLS:CN206031|UMLS:C0037889|UMLS:C0221409|NCIT:C97074|SNOMEDCT:55995005|DOID:12971 http://purl.obolibrary.org/obo/MONDO_0019350 Minkowski Chauffard syndrome|spherocytic anemia|congenital spherocytosis|congenital spherocytic hemolytic anemia|Minkowski-Chauffard disease ordo_disease|gard_rare GO:0030279 negative regulation of ossification biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/GO_0030279 negative regulation of bone biosynthesis|downregulation of ossification|negative regulation of bone formation|down regulation of ossification|inhibition of ossification|down-regulation of ossification MONDO:0007368 familial benign copper deficiency biolink:Disease mondo ICD10:E83.0|MESH:C535468|OMIM:121270|SCTID:763531001|GARD:0001522|UMLS:C1852576|Orphanet:1551 Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982. UMLS:C1852576|ORPHA:1551|MESH:C535468|http://identifiers.org/omim/121270|SNOMEDCT:763531001 http://purl.obolibrary.org/obo/MONDO_0007368 familial benign hypocupremia|copper deficiency, familial benign ordo_disease|gard_rare MONDO:0020346 synaptic congenital myasthenic syndrome biolink:Disease mondo ICD10:G70.2|Orphanet:98915 ORPHA:98915 http://purl.obolibrary.org/obo/MONDO_0020346 synaptic congenital myasthenic syndromes ordo_etiological_subtype MONDO:0007369 hereditary coproporphyria biolink:Disease mondo Orphanet:79273|MESH:D046349|SCTID:7425008|OMIM:121300|GARD:0006619|MedDRA:10019866|ICD10:E80.2|UMLS:C0162531|NCIT:C84759|ICD10:E80.29|DOID:13269 Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions. MESH:D046349|NCIT:C84759|MEDDRA:10019866|UMLS:C0162531|SNOMEDCT:7425008|DOID:13269|ORPHA:79273|http://identifiers.org/omim/121300 http://purl.obolibrary.org/obo/MONDO_0007369 Harderoporphyria|Cpox deficiency|coproporphyria, hereditary|CPRO deficiency|coproporphyria hereditary|HCP|coproporphyrinogen oxidase deficiency|hereditary coproporphyria porphyria|Cpx deficiency|porphyria hepatica II|hereditary coproporphyria|coproporphyria|coproporphyria, hereditary; HCP|porphyria hepatica coproporphyria|Cpo deficiency ordo_disease|gard_rare MONDO:0020345 presynaptic congenital myasthenic syndrome biolink:Disease mondo ICD10:G70.2|Orphanet:98914 ORPHA:98914 http://purl.obolibrary.org/obo/MONDO_0020345 presynaptic congenital myasthenic syndromes ordo_etiological_subtype GO:0042221 response to chemical biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/GO_0042221 response to chemical substance|response to chemical stimulus MONDO:0007366 seizures, benign familial neonatal, 2 biolink:Disease mondo OMIM:121201|UMLS:C1852581 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene. http://identifiers.org/omim/121201|UMLS:C1852581 http://purl.obolibrary.org/obo/MONDO_0007366 seizures, benign familial neonatal, type 2|BFNS2|seizures, benign familial neonatal, 2; BFNS2|seizures, benign familial neonatal, 2|KCNQ3 benign neonatal seizures|benign neonatal seizures caused by mutation in KCNQ3|convulsions, benign familial neonatal, 2 MONDO:0020344 postsynaptic congenital myasthenic syndrome biolink:Disease mondo ICD10:G70.2|Orphanet:98913 ORPHA:98913 http://purl.obolibrary.org/obo/MONDO_0020344 postsynaptic congenital myasthenic syndromes ordo_etiological_subtype MONDO:0020343 alpha-crystallinopathy biolink:Disease mondo Orphanet:98910|ICD10:G71.8 ORPHA:98910 http://purl.obolibrary.org/obo/MONDO_0020343 CRYAB-related myofobrillar myopathy ordo_group_of_disorders MONDO:0007367 FEB1 biolink:Disease mondo UMLS:C1852577|OMIM:121210|SCTID:230432008|ICD9:780.39|MESH:C565162 SNOMEDCT:230432008|MESH:C565162|http://identifiers.org/omim/121210|UMLS:C1852577 http://purl.obolibrary.org/obo/MONDO_0007367 febrile seizures, familial, 1; FEB1|febrile seizures, familial, 1|convulsions, familial febrile|FEB1|convulsions, familial febrile, 1 MONDO:0020342 congenital myopathy with excess of thin filaments biolink:Disease mondo MESH:C579880|Orphanet:98904|ICD10:G71.2 MESH:C579880|ORPHA:98904 http://purl.obolibrary.org/obo/MONDO_0020342 actin myopathy ordo_disease MONDO:0007364 arthrogryposis, distal, type 2E biolink:Disease mondo UMLS:C1852597|OMIM:121070|MESH:C535384 MESH:C535384|http://identifiers.org/omim/121070|UMLS:C1852597 http://purl.obolibrary.org/obo/MONDO_0007364 arthrogryposis, distal, type 2E|contractures of fingers and jaw MONDO:0007365 seizures, benign familial neonatal, 1 biolink:Disease mondo OMIM:121200|UMLS:C3149074|MESH:C567743 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene. UMLS:C3149074|MESH:C567743|http://identifiers.org/omim/121200 http://purl.obolibrary.org/obo/MONDO_0007365 seizures, benign familial neonatal, 1, and/or myokymia|epilepsy, benign neonatal, 1, and/or myokymia|seizures, benign familial neonatal, type 1|seizures, benign familial neonatal, 1; BFNS1|BFNS1|KCNQ2 benign neonatal seizures|seizures, benign familial neonatal, 1|benign neonatal seizures caused by mutation in KCNQ2 MONDO:0020341 periventricular nodular heterotopia biolink:Disease mondo MESH:D054091|DOID:0050454|Orphanet:98892|ICD10:Q04.8|MedDRA:10066854|GARD:0012724|UMLS:C1868720|OMIMPS:300049 Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. DOID:0050454|ORPHA:98892|UMLS:C1868720|MEDDRA:10066854|MESH:D054091 http://purl.obolibrary.org/obo/MONDO_0020341 periventricular heterotopia ordo_clinical_subtype MONDO:0020340 bilateral perisylvian polymicrogyria biolink:Disease mondo ICD10:Q04.3|GARD:0006011|Orphanet:98889 ORPHA:98889 http://purl.obolibrary.org/obo/MONDO_0020340 ordo_clinical_subtype MONDO:0007362 cone-rod dystrophy 2 biolink:Disease mondo OMIM:120970|ICD9:362.75|DOID:0111005|GARD:0006145|UMLS:CN074280|SCTID:80328002 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene. UMLS:CN074280|DOID:0111005|SNOMEDCT:80328002|http://identifiers.org/omim/120970 http://purl.obolibrary.org/obo/MONDO_0007362 cone-rod dystrophy 2; CORD2|cone-rod retinal dystrophy 2|cone-rod dystrophy 2|CRX cone-rod dystrophy|cone-rod retinal dystrophy|retinal cone-rod dystrophy 2|cone-rod dystrophy|retinal cone-rod dystrophy|cone-rod dystrophy caused by mutation in CRX|CORD2|cone-rod dystrophy type 2|RCRD2|CRD2 MONDO:0007363 congenital contractural arachnodactyly biolink:Disease mondo UMLS:C0220668|ICD10:Q68.8|NCIT:C129865|SCTID:205821003|OMIM:121050|MESH:C536211|GARD:0005899|ICD9:759.89|Orphanet:115 Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. SNOMEDCT:205821003|ORPHA:115|MESH:C536211|NCIT:C129865|http://identifiers.org/omim/121050|UMLS:C0220668 http://purl.obolibrary.org/obo/MONDO_0007363 contractures, multiple with arachnodactyly|arthrogryposis, distal, type 9; DA9|CCA|arthrogryposis, distal, type 9|distal arthrogryposis type 9|DA9|CCA syndrome|arachnodactyly, contractural Beals type|contractural arachnodactyly, congenital|Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis|Beals syndrome|Beals-Hecht syndrome ordo_malformation_syndrome MONDO:0007360 branchiootic syndrome 2 biolink:Disease mondo OMIM:120502|MESH:C565171|UMLS:C1852718 MESH:C565171|http://identifiers.org/omim/120502|UMLS:C1852718 http://purl.obolibrary.org/obo/MONDO_0007360 bo syndrome 2|branchiootic syndrome 2|branchiootic syndrome type 2 MONDO:0007361 C1 inhibitor deficiency biolink:Disease mondo ICD10:D84.1|DOID:0060002|UMLS:C1852700|Orphanet:459353|OMIM:120790 ORPHA:459353|DOID:0060002|UMLS:C1852700|http://identifiers.org/omim/120790 http://purl.obolibrary.org/obo/MONDO_0007361 Quincke edema|complement component 4, partial deficiency OF ordo_disease MONDO:0020339 X-linked complex spastic paraplegia biolink:Disease mondo Orphanet:98888|ICD10:G11.4 ORPHA:98888 http://purl.obolibrary.org/obo/MONDO_0020339 Complex X-linked SPG|Complex X-linked HSP|X-linked complicated spastic paraplegia|complicated X-linked SPG|complicated X-linked HSP ordo_group_of_disorders MONDO:0020338 adult pure red cell aplasia biolink:Disease mondo SCTID:765748009|NCIT:C70548|ICD10:D60.0|Orphanet:98872|GARD:0010898|UMLS:C0340961 Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. ORPHA:98872|UMLS:C0340961|NCIT:C70548|SNOMEDCT:765748009 http://purl.obolibrary.org/obo/MONDO_0020338 idiopathic pure red cell aplasia|acquired pure red cell aplasia|pure red-cell aplasia of adults|adult pure red-cell aplasia|acquired PRCA ordo_disease MONDO:0020337 congenital dyserythropoietic anemia type 1 biolink:Disease mondo Orphanet:98869|GARD:0002000|SCTID:59548005|ICD10:D64.4 Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis. UMLS:C0271933|ORPHA:98869|SNOMEDCT:59548005 http://purl.obolibrary.org/obo/MONDO_0020337 CDA type 1|CDA I|congenital dyserythropoietic anemia type 1|anemia, dyserythropoietic, congenital type 1|CDA type I|dyserythropoietic anemia, congenital type 1|type I congenital dyserythropoietic anemia ordo_disease MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy biolink:Disease mondo Orphanet:98853|GARD:0002101|ICD10:G71.0 Autosomal dominant form of Emery-Dreifuss muscular dystrophy. UMLS:C0410190|ORPHA:98853 http://purl.obolibrary.org/obo/MONDO_0020336 Emery-Dreifuss muscular dystrophy, autosomal dominant|EDMD2 ordo_etiological_subtype|gard_rare MONDO:0022998 distal arthrogryposis Moore weaver type biolink:Disease mondo MESH:C536814|UMLS:C2931342 MESH:C536814|UMLS:C2931342 http://purl.obolibrary.org/obo/MONDO_0022998 Moore Weaver syndrome MONDO:0019357 congenital narrowing of cervical spinal canal biolink:Disease mondo Orphanet:831|ICD10:Q06.8 14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances. ORPHA:831 http://purl.obolibrary.org/obo/MONDO_0019357 congenital cervical spinal stenosis|congenital stenosis of the cervical spine ordo_disease GO:0030278 regulation of ossification biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/GO_0030278 regulation of bone formation|regulation of bone biosynthesis MONDO:0019356 urogenital tract malformation biolink:Disease mondo Orphanet:83001 ORPHA:83001 http://purl.obolibrary.org/obo/MONDO_0019356 ordo_group_of_disorders MONDO:0022999 distichiasis heart congenital anomalies biolink:Disease mondo GARD:0001890 http://purl.obolibrary.org/obo/MONDO_0022999 gard_rare HGNC:20603 DHDDS biolink:OntologyClass mondo http://identifiers.org/hgnc/20603 MONDO:0019359 Rocky mountain spotted fever biolink:Disease mondo DOID:0050052|GARD:0007585|SCTID:186772009|MedDRA:10039207|MESH:D012373|ICD10:A77.0|NCIT:C128410|Orphanet:83311|UMLS:C0035793 Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline). DOID:0050052|MESH:D012373|NCIT:C128410|ORPHA:83311|SNOMEDCT:186772009|MEDDRA:10039207|UMLS:C0035793 http://purl.obolibrary.org/obo/MONDO_0019359 Choix|So Paulo fever|Brazillian spotted|Fiebre maculosa|sao Paulo typhus|Tobia fever|RMSF|Tick typhus|exanthematic typhus of sao Paulo|Fiebre manchada gard_rare|ordo_disease MONDO:0019358 encephalopathy due to sulfite oxidase deficiency biolink:Disease mondo ICD10:E72.1|Orphanet:833|UMLS:C4275019|SCTID:715980003 Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. ORPHA:833|SNOMEDCT:715980003|UMLS:C4275019 http://purl.obolibrary.org/obo/MONDO_0019358 ordo_disease MONDO:0019353 Stargardt disease biolink:Disease mondo UMLS:C0271093|NCIT:C85078|Orphanet:827|UMLS:C1855465|MedDRA:10062766|DOID:0050817|SCTID:47673003|GARD:0000181|ICD10:H35.5 Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. UMLS:C0271093|SNOMEDCT:47673003|DOID:0050817|UMLS:C1855465|ORPHA:827|NCIT:C85078|MEDDRA:10062766 http://purl.obolibrary.org/obo/MONDO_0019353 juvenile onset macular degeneration|Stargardt 1|fundus flavimaculatus|Stargardt macular dystrophy|Stargardt disease 1 ordo_disease|gard_rare MONDO:0019352 obsolete sporotrichosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019352 MONDO:0019355 adult-onset Still disease biolink:Disease mondo DOID:14256|GARD:0000436|MedDRA:10064056|MESH:D016706|SCTID:239920006|UMLS:C0085253|SCTID:68190001|Orphanet:829|ICD10:M06.1|ICD9:714.2|UMLS:CN206037|MedDRA:10058493|EFO:0007135|ICD9:759.89 Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. MESH:D016706|UMLS:C0043195|UMLS:C0085253|MEDDRA:10064056|MESH:D014924|DOID:14256|UMLS:CN206037|ORPHA:829|MEDDRA:10058493|SNOMEDCT:239920006|SNOMEDCT:68190001 http://purl.obolibrary.org/obo/MONDO_0019355 AOSD|Wissler-Fanconi syndrome|adult onset Still's disease|Still's disease adult onset|adult-onset Still's disease|adult Still's disease|adult-onset Still disease ordo_disease|gard_rare MONDO:0019354 Stickler syndrome biolink:Disease mondo Orphanet:828|UMLS:C0265253|GARD:0010782|SCTID:78675000|DOID:0080046|ICD10:Q87.0|OMIMPS:108300|ICD9:759.89|MedDRA:10063402|NCIT:C74984 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). DOID:0080046|UMLS:C0265253|MEDDRA:10063402|ORPHA:828|NCIT:C74984|SNOMEDCT:78675000 http://purl.obolibrary.org/obo/MONDO_0019354 hereditary progressive arthroophthalmopathy ordo_disease MONDO:0022990 diphallus rachischisis imperforate anus biolink:Disease mondo GARD:0001873 http://purl.obolibrary.org/obo/MONDO_0022990 gard_rare MONDO:0022991 diploid-triploid mosaicism biolink:Disease mondo UMLS:C0265505|ICD9:758.89|MESH:C548012|SCTID:10177005|GARD:0010715 Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells. UMLS:C0265505|SNOMEDCT:10177005|MESH:C548012 http://purl.obolibrary.org/obo/MONDO_0022991 Mosaic triploidy|Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia|diploid/triploid mixoploidy|diploid/triploid mosaicism gard_rare NCBITaxon:42415 Sigmodon hispidus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42415 Sigmodon hispiedis|hispid cotton rat MONDO:0019340 scleroderma (disease) biolink:Disease mondo DOID:419|MedDRA:10039710|Orphanet:801|NCIT:C26746|HP:0100324 Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). DOID:419|ORPHA:801|UMLS:C0011644|NCIT:C26746|MEDDRA:10039710 http://purl.obolibrary.org/obo/MONDO_0019340 dermatosclerosis|scleroderma|Scleroderma ordo_group_of_disorders MONDO:0022993 dipsogenic diabetes insipidus biolink:Disease mondo SCTID:82800008|MESH:C548013|UMLS:C0268813|GARD:0010703|NCIT:C129735 Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. MESH:C548013|NCIT:C129735|SNOMEDCT:82800008|UMLS:C0268813 http://purl.obolibrary.org/obo/MONDO_0022993 dipsogenic diabetes insipidus|primary polydipsia|Dipsogenic diabetes insipidus gard_rare NCBITaxon:42414 Sigmodon organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42414 cotton rats MONDO:0007379 Meesmann corneal dystrophy biolink:Disease mondo SCTID:1674008|MESH:D053559|OMIMPS:122100|Orphanet:98954|ICD10:H18.52|DOID:0060451|UMLS:C0339277|NCIT:C84795|GARD:0009688|ICD10:H18.5|ICD9:371.51 Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. NCIT:C84795|UMLS:C0339277|SNOMEDCT:1674008|ORPHA:98954|http://identifiers.org/omim/122100|MESH:D053559|DOID:0060451 http://purl.obolibrary.org/obo/MONDO_0007379 stocker-Holt dystrophy|corneal dystrophy, Meesmann; MECD|Meesmann corneal epithelial dystrophy|corneal dystrophy, Meesmann|corneal dystrophy, juvenile epithelial of Meesmann|MECD|corneal dystrophy, juvenile epithelial, of Meesmann|Meesman dystrophy|juvenile hereditary epithelial dystrophy|juvenile hereditary epithelial dystrophy of Meesmann|corneal dystrophy, Meesmann epithelial|Meesmann corneal dystrophy|juvenile epithelial of Meesmann corneal dystrophy gard_rare|ordo_disease MONDO:0020335 obsolete desquamative interstitial pneumonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020335 MONDO:0020334 mast cell leukemia biolink:Disease mondo MESH:D007946|NCIT:C3169|UMLS:C0023461|MedDRA:10056450|EFO:0007359|ICDO:9742/3|ICD10:C94.3|Orphanet:98851|SCTID:110002002|DOID:9254|ONCOTREE:SMMCL|ICD10:C94.30 Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells. ORPHA:98851|SNOMEDCT:110002002|UMLS:C0023461|MESH:D007946|DOID:9254|MEDDRA:10056450|NCIT:C3169 http://purl.obolibrary.org/obo/MONDO_0020334 SMMCL|mast-cell leukemia|Mast cell leukemia ordo_group_of_disorders MONDO:0007377 granular corneal dystrophy type I biolink:Disease mondo OMIM:121900|MESH:C537304|Orphanet:98962|SCTID:419039007|ICD10:H18.5|GARD:0009677|UMLS:C1641846 Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe. SNOMEDCT:419039007|MESH:C537304|ORPHA:98962|http://identifiers.org/omim/121900|UMLS:C1641846 http://purl.obolibrary.org/obo/MONDO_0007377 GCD1|granular corneal dystrophy type 1|corneal dystrophy Groenouw type I|classic granular corneal dystrophy|Groenouw type I corneal dystrophy|CDGG1|corneal dystrophy, Groenouw type I; CDGG1|granular corneal dystrophy, type 1|GCDI|corneal dystrophy granular type|corneal dystrophy, Groenouw type I|corneal dystrophy punctate or nodular|corneal dystrophy, Groenouw type 1|classic GCD|corneal dystrophy, punctate or nodular ordo_disease MONDO:0020333 aggressive systemic mastocytosis biolink:Disease mondo MedDRA:10056453|DOID:4798|SCTID:716655008|NCIT:C9285|Orphanet:98850|ICDO:9741/3|ONCOTREE:ASM|UMLS:C1112486|ICD10:C96.2 Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues. NCIT:C9285|ORPHA:98850|DOID:4798|MEDDRA:10056453|UMLS:C1112486|SNOMEDCT:716655008 http://purl.obolibrary.org/obo/MONDO_0020333 lymphadenopathic mastocytosis with eosinophilia|aggressive systemic mastocytosis (morphologic abnormality)|ASM ordo_disease MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease biolink:Disease mondo SCTID:397015000|DOID:4797|ICD10:C96.2|NCIT:C9284|EFO:1000559|ICDO:9741/3|ONCOTREE:SMAHN|Orphanet:98849 Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia). NCIT:C9284|SNOMEDCT:397015000|ORPHA:98849|UMLS:C1301365|DOID:4797 http://purl.obolibrary.org/obo/MONDO_0020332 systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease|systemic mastocytosis with an associated hematological neoplasm (SM-AHN)|SM-AHN|systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease|systemic mastocytosis with an associated hematological neoplasm|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)|systemic mastocytosis with associated clonal haematological non-mast cell lineage disease|SM-AHNMD|SMAHN|systemic mastocytosis with associated hematologic neoplasm ordo_disease MONDO:0007378 posterior polymorphous corneal dystrophy 1 biolink:Disease mondo OMIM:122000|SCTID:29504002|DOID:0110855|UMLS:CN029625|ICD9:371.58|ICD10:H18.50 A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. SNOMEDCT:29504002|UMLS:CN029625|http://identifiers.org/omim/122000|DOID:0110855 http://purl.obolibrary.org/obo/MONDO_0007378 corneal dystrophy, hereditary polymorphous posterior|corneal dystrophy, POSTERIOR polymorphous, 1|corneal dystrophy, POSTERIOR polymorphous, 1; PPCD1|Maumenee corneal dystrophy|Ppcd1|posterior polymorphous corneal dystrophy|corneal endothelial dystrophy 1, autosomal dominant|corneal endothelial dystrophy 1, autosomal dominant, formerly|Ched1|corneal dystrophy, posterior polymorphous, type 1|posterior polymorphous corneal dystrophy type 1|PPCD1 MONDO:0007375 epithelial basement membrane dystrophy biolink:Disease mondo DOID:0060447|OMIM:121820|Orphanet:98956|ICD10:H18.5|SCTID:373426005|GARD:0009732|MESH:C535477 SNOMEDCT:373426005|ORPHA:98956|MESH:C535477|DOID:0060447|http://identifiers.org/omim/121820 http://purl.obolibrary.org/obo/MONDO_0007375 corneal dystrophy, anterior basement Membrane|microcystic corneal dystrophy|Cogan corneal dystrophy|corneal dystrophy, Map-Dot-Fingerprint type|anterior basement membrane dystrophy|epithelial basement membrane corneal dystrophy|corneal dystrophy, epithelial basement MEMBRANE|corneal dystrophy, epithelial basement MEMBRANE; EBMD|microcystic dystrophy of the cornea|corneal dystrophy, microcystic|EBMD|Map-dot-fingerprint dystrophy of cornea|Map-dot-fingerprint dystrophy|Cogan microcystic epithelial dystrophy ordo_disease NCBITaxon:862507 Mus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus MONDO:0020331 indolent systemic mastocytosis biolink:Disease mondo MedDRA:10056452|UMLS:C0272203|ICD10:D47.0|ONCOTREE:ISM|DOID:4660|SCTID:70910003|ICDO:9741/1|Orphanet:98848|NCIT:C9286 Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues. ORPHA:98848|DOID:4660|MEDDRA:10056452|UMLS:C0272203|SNOMEDCT:70910003|NCIT:C9286 http://purl.obolibrary.org/obo/MONDO_0020331 indolent systemic mastocytosis (morphologic abnormality)|ism ordo_disease MONDO:0007376 fleck corneal dystrophy biolink:Disease mondo DOID:0060448|UMLS:C1562113|OMIM:121850|SCTID:417183007|ICD10:H18.5|Orphanet:98970|MESH:C563256|ICD9:371.56 Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. SNOMEDCT:417183007|ORPHA:98970|MESH:C563256|DOID:0060448|UMLS:C1562113|http://identifiers.org/omim/121850 http://purl.obolibrary.org/obo/MONDO_0007376 FCD|fleck corneal dystrophy|Cfd|Francois-Neetens speckled corneal dystrophy|François-Neetens speckled corneal dystrophy|corneal dystrophy, Francois-Neetens speckled or flecked|FranC'ois-Neetens speckled corneal dystrophy|corneal dystrophy, FLECK ordo_disease MONDO:0020330 classic Hodgkin lymphoma, lymphocyte-depleted type biolink:Disease mondo ICD10:C81.3|Orphanet:98846 ORPHA:98846 http://purl.obolibrary.org/obo/MONDO_0020330 ordo_histopathological_subtype MONDO:0007373 corneal degeneration, ribbonlike, with deafness biolink:Disease mondo OMIM:121450|MESH:C565157|UMLS:C1852556 MESH:C565157|http://identifiers.org/omim/121450|UMLS:C1852556 http://purl.obolibrary.org/obo/MONDO_0007373 band keratopathy with deafness|corneal degeneration, ribbonlike, with deafness MONDO:0007374 Schnyder corneal dystrophy biolink:Disease mondo MESH:C535475|DOID:0060456|OMIM:121800|Orphanet:98967|GARD:0009277|SCTID:419395007|ICD10:H18.5 Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. UMLS:C0271287|ORPHA:98967|SNOMEDCT:419395007|MESH:C535475|DOID:0060456|http://identifiers.org/omim/121800 http://purl.obolibrary.org/obo/MONDO_0007374 corneal dystrophy crystalline of Schnyder|Schnyder crystalline dystrophy sine crystals|corneal dystrophy, crystalline, of Schnyder|Schnyder corneal dystrophy|SCCD|crystalline stromal dystrophy|hereditary crystalline stromal dystrophy of Schnyder|Schnyder crystalline corneal dystrophy|Schnyder corneal dystrophy; SCCD|SCD|corneal dystrophy, Schnyder ordo_disease MONDO:0007371 cornea guttata with anterior polar cataracts biolink:Disease mondo GARD:0009507|UMLS:C1852558|OMIM:121390|MESH:C535471 MESH:C535471|http://identifiers.org/omim/121390|UMLS:C1852558 http://purl.obolibrary.org/obo/MONDO_0007371 cornea guttata with anterior polar cataract|cornea guttata with anterior polar cataracts|familial congenital cornea guttata with anterior polar cataracts (type) MONDO:0007372 cornea plana 1, autosomal dominant biolink:Disease mondo MESH:C565158|OMIM:121400|UMLS:C1852557 MESH:C565158|http://identifiers.org/omim/121400|UMLS:C1852557 http://purl.obolibrary.org/obo/MONDO_0007372 cornea plana 1; CNA1|CNA1|cornea plana 1|cornea plana 1, autosomal dominant; CNA1 MONDO:0020329 classic Hodgkin lymphoma, lymphocyte-rich type biolink:Disease mondo MedDRA:10020231|Orphanet:98845|ICD10:C81.4 UMLS:C1266194|ORPHA:98845|MEDDRA:10020231 http://purl.obolibrary.org/obo/MONDO_0020329 ordo_histopathological_subtype MONDO:0007370 coracoclavicular joint, anomalous biolink:Disease mondo OMIM:121350|MESH:C565161 MESH:C565161|http://identifiers.org/omim/121350 http://purl.obolibrary.org/obo/MONDO_0007370 coracoclavicular joint, anomalous MONDO:0020328 classic Hodgkin lymphoma, mixed cellularity type biolink:Disease mondo Orphanet:98844|ICD10:C81.2 ORPHA:98844 http://purl.obolibrary.org/obo/MONDO_0020328 ordo_histopathological_subtype MONDO:0019349 Sotos syndrome biolink:Disease mondo UMLS:CN239475|GARD:0010091|UMLS:C0175695|MedDRA:10064387|MESH:D058495|Orphanet:821|NCIT:C75019|DOID:14748|ICD10:Q87.3|OMIMPS:117550 Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. MESH:D058495|UMLS:CN239475|UMLS:C0175695|MEDDRA:10064387|NCIT:C75019|ORPHA:821|DOID:14748 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos' syndrome|cerebral gigantism syndrome|distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development|cerebral gigantism ordo_disease MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type biolink:Disease mondo Orphanet:98843|ICD10:C81.1 ORPHA:98843 http://purl.obolibrary.org/obo/MONDO_0020327 ordo_histopathological_subtype MONDO:0020326 lymphomatoid papulosis biolink:Disease mondo MESH:D017731|SCTID:31047003|ICDO:9718/1|ICD9:447.8|EFO:1000341|GARD:0006944|MedDRA:10056670|Orphanet:98842|ONCOTREE:LYP|UMLS:C0206182|NCIT:C3721|ICD10:L41.2|ICD10:C86.6 Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features. NCIT:C3721|UMLS:C0206182|ORPHA:98842|SNOMEDCT:31047003|MEDDRA:10056670|MESH:D017731 http://purl.obolibrary.org/obo/MONDO_0020326 LyP|LYP ordo_disease|gard_rare MONDO:0020325 anaplastic large cell lymphoma biolink:Disease mondo NCIT:C3720|HGNC:427|ICD10:C84.7|DOID:0050744|ICD10:C84.6|ICD9:200.6|ICD9:200.60|UMLS:C0206180|ICDO:9714/3|COHD:441235|ONCOTREE:ALCL|Orphanet:98841|MESH:D017728|GARD:0003112|EFO:0003032|SCTID:277637000 Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL. NCIT:C3720|UMLS:C0206180|ORPHA:98841|DOID:0050744|MESH:D017728|SNOMEDCT:277637000 http://purl.obolibrary.org/obo/MONDO_0020325 CD30 positive anaplastic large cell lymphoma|ALCL|Ki-1+ ALCL|anaplastic large cell lymphoma|Ki-1 lymphoma|Ki-1+ anaplastic large cell lymphoma|CD30 Positive anaplastic large cell lymphoma|primary systemic ALCL|Ki-1 positive anaplastic large cell lymphoma|sACL gard_rare|ordo_disease NCBITaxon:1437010 Boreoeutheria organism taxon mondo PMID:11743200|PMID:11791233|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreotheria MONDO:0019346 sialidosis type 1 biolink:Disease mondo SCTID:34960006|UMLS:CN206021|GARD:0007639|UMLS:C0023806|Orphanet:812|ICD10:E77.1 Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. ORPHA:812|UMLS:CN206021|UMLS:C0023806|SNOMEDCT:34960006 http://purl.obolibrary.org/obo/MONDO_0019346 cherry red spot myoclonus syndrome|myoclonus cherry red spot syndrome|Normomorphic sialidosis|lipomucopolysaccharidosis|normosomatic sialidosis|sialidosis type I|cherry-red spot-myoclonus syndrome ordo_disease MONDO:0019345 shigellosis biolink:Disease mondo MedDRA:10017915|COHD:201780|ICD10:A03|ICD10:A03.8|GARD:0004818|DOID:12385|ICD9:004|ICD9:004.3|SCTID:36188001|MedDRA:10054178|ICD9:004.2|ICD10:A03.9|ICD9:004.1|ICD10:A03.3|ICD9:004.9|ICD9:004.0|MESH:D004405|KEGG:05131|Orphanet:810|ICD10:A03.2|ICD10:A03.1|EFO:0005585|ICD10:A03.0 Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts. MESH:D004405|MEDDRA:10054178|UMLS:C0013371|ORPHA:810|SNOMEDCT:36188001|DOID:12385|MEDDRA:10017915 http://purl.obolibrary.org/obo/MONDO_0019345 flexner's dysentery|Shigella boydii infectious disease|Shigella sonnei infectious disease|shigellosis|japanese dysentery|Shigella gastroenteritis|Shigella flexneri infectious disease|Shigella dysentery|bacillary dysentery gard_rare|ordo_disease MONDO:0022989 diomedi bernardi placidi syndrome biolink:Disease mondo GARD:0001870 http://purl.obolibrary.org/obo/MONDO_0022989 gard_rare MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia biolink:Disease mondo Orphanet:82004|SCTID:720857006|UMLS:C4303790|ICD10:Q79.6 Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva. http://identifiers.org/omim/300537|SNOMEDCT:720857006|UMLS:C4303790|ORPHA:82004 http://purl.obolibrary.org/obo/MONDO_0019348 EDS with periventricular heterotopia MONDO:0019347 peeling skin syndrome biolink:Disease mondo DOID:0060283|Orphanet:817|ICD9:757.39|GARD:0007347|SCTID:239065004|ICD10:Q80.8|OMIMPS:270300 Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS. SNOMEDCT:239065004|UMLS:C0406357|ORPHA:817|DOID:0060283 http://purl.obolibrary.org/obo/MONDO_0019347 PSS|familial continuous skin peeling syndrome|keratosis exfoliativa congenita|deciduous skin|idiopathic deciduous skin|familial continuous skin peeling|skin peeling syndrome|peeling skin disease ordo_group_of_disorders MONDO:0019342 Seckel syndrome biolink:Disease mondo OMIMPS:210600|ICD10:Q87.1|DOID:0050569|NCIT:C125488|Orphanet:808|UMLS:C0265202|SCTID:57917004|ICD9:759.89|GARD:0008562 A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. SNOMEDCT:57917004|UMLS:C0265202|MESH:C537533|DOID:0050569|ORPHA:808|NCIT:C125488 http://purl.obolibrary.org/obo/MONDO_0019342 bird-headed dwarfism|nanocephalic Dwarfism|Seckel-type Dwarfism|SCKL|microcephalic primordial dwarfism|Harper's syndrome|Virchow-Seckel dwarfism ordo_malformation_syndrome GO:0030262 apoptotic nuclear changes biolink:OntologyClass mondo Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. http://purl.obolibrary.org/obo/GO_0030262 apoptotic nuclear change GO:0030263 apoptotic chromosome condensation biolink:OntologyClass mondo The compaction of chromatin during apoptosis. http://purl.obolibrary.org/obo/GO_0030263 pyknosis MONDO:0019341 tuberous sclerosis complex biolink:Disease mondo MedDRA:10045138|Orphanet:805|GARD:0007830|ICD10:Q85.1|GARD:0000946 Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features. MESH:D014402|UMLS:C0041341|ORPHA:805|MEDDRA:10045138 http://purl.obolibrary.org/obo/MONDO_0019341 Bourneville's syndrome|tuberous sclerosis|Bourneville syndrome gard_rare|ordo_disease MONDO:0019344 antisynthetase syndrome biolink:Disease mondo SCTID:445187004|Orphanet:81|GARD:0000735|MESH:C537778|ICD9:279.49|EFO:1001982|ICD10:M35.8|UMLS:C2609059|MedDRA:10068801 Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS). MEDDRA:10068801|MESH:C537778|UMLS:C2609059|SNOMEDCT:445187004|ORPHA:81 http://purl.obolibrary.org/obo/MONDO_0019344 anti-Jo1 syndrome|AS syndrome ordo_disease|gard_rare MONDO:0019343 obsolete mixed connective tissue disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019343 GO:0030261 chromosome condensation biolink:OntologyClass mondo The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/GO_0030261 eukaryotic chromosome condensation|DNA condensation|nuclear chromosome condensation UBERON:0018664 neck of bone element biolink:AnatomicalEntity mondo the neck region of a bone organ. http://purl.obolibrary.org/obo/UBERON_0018664 neck of bone|bone neck UBERON:0018667 neck of scapula biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0018667 scapular neck|anatomical neck of scapula UBERON:0004022 germinal neuroepithelium biolink:AnatomicalEntity mondo The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells http://purl.obolibrary.org/obo/UBERON_0004022 germinal neuroepithelial layer|germinal neuroepithelium|original neural tube UBERON:0006682 hypoglossal canal biolink:AnatomicalEntity mondo The hypoglossal canal is a bony canal in the occipital bone of the skull. http://purl.obolibrary.org/obo/UBERON_0006682 hyperglossal canal|canalis nervi hypoglossi|anterior condylar canal NCBITaxon:6201 Cyclophyllidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6201 HGNC:2436 CSF2RB biolink:OntologyClass mondo http://identifiers.org/hgnc/2436 NCBITaxon:6202 Taenia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6202 HGNC:32700 CCDC103 biolink:OntologyClass mondo http://identifiers.org/hgnc/32700 HGNC:19721 CANT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19721 NCBITaxon:6200 Eucestoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6200 HGNC:2433 CSF1R biolink:OntologyClass mondo http://identifiers.org/hgnc/2433 HP:0002373 Febrile seizure (within the age range of 3 months to 6 years) biolink:PhenotypicFeature mondo MSH:D003294|UMLS:C0009952|SNOMEDCT_US:41497008 A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. http://purl.obolibrary.org/obo/HP_0002373 Fever induced seizures|Seizures, febrile, in early childhood|Febrile seizures|Febrile convulsion|Seizures, generalized, associated with fever UBERON:0004027 chorionic plate biolink:AnatomicalEntity mondo That portion of the chorionic wall in the region of its uterine attachment, which gives rise to chorionic villi; it consists of the mesoderm that lines the chorionic vesicle and, on the maternal side, of the trophoblast that lines the intervillous spaces; in the last half of gestation, the mesodermal connective tissue is largely replaced by fibrinoid material, and the amnionic membrane is adherent to the fetal side of the plate. http://purl.obolibrary.org/obo/UBERON_0004027 UBERON:0006686 spinal vein biolink:AnatomicalEntity mondo A vein that is part of a vertebral column. http://purl.obolibrary.org/obo/UBERON_0006686 spinal branch|vena spinalis NCBITaxon:6209 Echinococcus organism taxon mondo PMID:18180956|PMID:16352465|PMID:18338180|PMID:17156584|PMID:12964823|GC_ID:1|PMID:12377596 http://purl.obolibrary.org/obo/NCBITaxon_6209 NCBITaxon:6208 Taeniidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6208 HGNC:2439 CSF3R biolink:OntologyClass mondo http://identifiers.org/hgnc/2439 UBERON:0006671 orbital fat pad biolink:AnatomicalEntity mondo A fat pad that is part of a orbital region. http://purl.obolibrary.org/obo/UBERON_0006671 retrobulbar fat|orbital fat|orbital fat body|intraorbital fat pad UBERON:0006670 central tendon of diaphragm biolink:AnatomicalEntity mondo the three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers http://purl.obolibrary.org/obo/UBERON_0006670 central tendon|centrum tendineum diaphragmatis|centrum tendineum NCBITaxon:6213 Echinococcus vogeli organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6213 NCBITaxon:6210 Echinococcus granulosus organism taxon mondo PMID:17156584|PMID:12964823|GC_ID:1|PMID:12377596|PMID:18180956|PMID:16352465|PMID:18338180 http://purl.obolibrary.org/obo/NCBITaxon_6210 Echinococcus granulosus sheep strain|Echinococcus granulosus G1 strain|Echinococcus granulosus G2 strain|Echinococcus granulosus Tasmanian sheep strain|Echinococcus granulosus G3 strain|Echinococcus granulosus buffalo strain|Echinococcus granulosus sensu stricto|Echinococcus granulosus s. s. NCBITaxon:6211 Echinococcus multilocularis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6211 UBERON:0004015 embryonic-extraembryonic boundary biolink:AnatomicalEntity mondo The connection between the embryo proper and extraembryonic tissues http://purl.obolibrary.org/obo/UBERON_0004015 HGNC:20716 KLC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/20716 UBERON:0006677 surface of epithelium biolink:AnatomicalEntity mondo An anatomical boundary that adjacent_to a epithelium. http://purl.obolibrary.org/obo/UBERON_0006677 epithelium surface UBERON:0004016 dermatome biolink:AnatomicalEntity mondo A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. http://purl.obolibrary.org/obo/UBERON_0004016 mesenchyma dermatomiale|epimere mesoderm|cutis plate|dermatomal mesenchyme UBERON:0004014 labium minora biolink:AnatomicalEntity mondo One of the folds of skin which form the inner lips on both sides of the vaginal opening http://purl.obolibrary.org/obo/UBERON_0004014 labium minus|labia minorum|labium minorum|labium minus pudendi|labium minora HP:0002383 Encephalitis biolink:PhenotypicFeature mondo SNOMEDCT_US:45170000|UMLS:C0014038|MSH:D004660 http://purl.obolibrary.org/obo/HP_0002383 Brain inflammation UBERON:0006675 venous valve biolink:AnatomicalEntity mondo A valve that is part of a vein. http://purl.obolibrary.org/obo/UBERON_0006675 valve of vein UBERON:0018649 cardiac muscle tissue of ventricle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0018649 ventricular cardiac muscle tissue|ventricular muscle|ventricular heart muscle NCBITaxon:42461 Opisthokonta incertae sedis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_42461 Fungi/Metazoa incertae sedis UBERON:0004000 tarsal gland acinus biolink:AnatomicalEntity mondo A sac-like structure comprising a sebaceous gland. http://purl.obolibrary.org/obo/UBERON_0004000 palpebral gland acinus|Meibomian gland acinus|acinus of tarsal gland UBERON:0004001 olfactory bulb layer biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0004001 cytoarchitectural part of olfactory bulb UBERON:0006661 epicranial aponeurosis biolink:AnatomicalEntity mondo The galea aponeurotica (epicranial aponeurosis, aponeurosis epicranialis) is a tough layer of dense fibrous tissue which covers the upper part of the cranium; behind, it is attached, in the interval between its union with the Occipitales, to the external occipital protuberance and highest nuchal lines of the occipital bone; in front, it forms a short and narrow prolongation between its union with the Frontales. On either side it gives origin to the Auriculares anterior and superior; in this situation it loses its aponeurotic character, and is continued over the temporal fascia to the zygomatic arch as a layer of laminated areolar tissue. It is closely connected to the integument by the firm, dense, fibro-fatty layer which forms the superficial fascia of the scalp: it is attached to the pericranium by loose cellular tissue, which allows the aponeurosis, carrying with it the integument to move through a considerable distance. http://purl.obolibrary.org/obo/UBERON_0006661 galea aponeurotica; aponeurosis epicranialis|aponeurosis epicranialis|galea aponeurotica|epicranius aponeurosis|epicranial aponeurosis|galeal aponeurosis|galea aponeurosis|aponeurosis of epicranius|epicranial aponeurosis|cranial aponeurosis HP:0002354 Memory impairment biolink:PhenotypicFeature mondo MSH:D008569|SNOMEDCT_US:55533009|UMLS:C0233794|UMLS:C0542476|UMLS:C0751295|SNOMEDCT_US:386807006 An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. http://purl.obolibrary.org/obo/HP_0002354 Memory problems|Memory loss|Poor memory|Memory impairment|Forgetfulness UBERON:0006660 muscular coat biolink:AnatomicalEntity mondo A region of muscle in many organs in the vertebrate body, adjacent to the submucosa membrane. It is responsible for gut movement such as peristalsis. http://purl.obolibrary.org/obo/UBERON_0006660 muscular layer|tunica muscularis|transverse muscular fibers|muscularis propria|tunica muscularis|muscularis layer|muscular coat|muscularis externa|tunica externa|muscularis HGNC:19706 ADAMTSL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/19706 UBERON:0004008 cerebellar plate biolink:AnatomicalEntity mondo The embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium http://purl.obolibrary.org/obo/UBERON_0004008 cerebellum plate|cerebellum roof plate NCBITaxon:149546 Histoplasma capsulatum var. duboisii organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_149546 Histoplasma duboisii HGNC:2457 CSNK2A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2457 UBERON:0006668 carotid canal biolink:AnatomicalEntity mondo On the interior surface of the temporal bone, behind the rough surface of the apex, is the large circular aperture of the carotid canal, which ascends at first vertically, and then, making a bend, runs horizontally forward and medialward. It transmits into the cranium, the internal carotid artery, and the carotid plexus of nerves. Sympathetics to the head also pass through the carotid canal. They have several motor functions: raise the eyelid (superior tarsal muscle), dilate pupil, innervate sweat glands of face and scalp and constricts blood vessels in head[WP]. http://purl.obolibrary.org/obo/UBERON_0006668 canalis caroticus UBERON:0006666 great cerebral vein biolink:AnatomicalEntity mondo The great cerebral vein is one of the large blood vessels in the skull draining the cerebrum (brain)[WP,unvetted] http://purl.obolibrary.org/obo/UBERON_0006666 great cerebral vein of Galen|great cerebral vein|vein of Galen HP:0002352 Leukoencephalopathy biolink:PhenotypicFeature mondo SNOMEDCT_US:22811006|UMLS:C0270612|MSH:D056784 This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. http://purl.obolibrary.org/obo/HP_0002352 HGNC:2452 CSNK1D biolink:OntologyClass mondo http://identifiers.org/hgnc/2452 HP:0002350 Cerebellar cyst biolink:PhenotypicFeature mondo UMLS:C1847762 http://purl.obolibrary.org/obo/HP_0002350 Cerebellar cysts UBERON:0006652 muscular layer of vagina biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006652 tunica muscularis vaginae|vaginal muscularis|muscular coat of vagina UBERON:0006650 tunica vaginalis testis biolink:AnatomicalEntity mondo the outer coelomic epithelial covering of the testis; a sac of serous tissue covering the testis and the epididymis within which the testis can move about; it covers the tunica albuginea http://purl.obolibrary.org/obo/UBERON_0006650 tunica vaginalis of testis|processus vaginalis testis|testis tunica vaginalis|lamina parietalis|lamina visceralis|tunica vaginalis|tunica vaginalis testis HGNC:19714 DDHD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/19714 HGNC:2468 SMC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2468 UBERON:0006658 interphalangeal joint biolink:AnatomicalEntity mondo A joint that connects one phalanx to another along a proximodistal axis. http://purl.obolibrary.org/obo/UBERON_0006658 inter-phalangeal joint|inter-phalanx joint UBERON:0006657 glenoid fossa biolink:AnatomicalEntity mondo Anatomical cavity for the proximal articular surface of the proximal limb or fin element with the scapulocoracoid or equivalent structure. http://purl.obolibrary.org/obo/UBERON_0006657 glenoid cavity of scapula|glenoid cavity|cavitas glenoidalis scapulae|glenoid facet|cavitus glenoidalis|cavitas glenoidalis|glenoid cavity HP:0100957 Abnormal renal medulla morphology biolink:PhenotypicFeature mondo UMLS:C4021911 Any structural abnormality of the medulla of the kidney. http://purl.obolibrary.org/obo/HP_0100957 Abnormality of the renal medulla HGNC:2464 VCAN biolink:OntologyClass mondo http://identifiers.org/hgnc/2464 HP:0002360 Sleep disturbance biolink:PhenotypicFeature mondo SNOMEDCT_US:53888004|UMLS:C0037317 An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. http://purl.obolibrary.org/obo/HP_0002360 Sleep disturbances|Sleep dysfunction|Trouble sleeping|Difficulty sleeping UBERON:0006653 glans clitoris biolink:AnatomicalEntity mondo Erectile tissue at the end of the clitoris, which is continuous with the intermediate part of the vestibulovaginal bulbs[BTO]. The clitoral glans (glans clitoridis) is an external portion of the clitoris[WP]. http://purl.obolibrary.org/obo/UBERON_0006653 glans clitoridis|clitoris glans|glans clitoris|glans of clitoris HP:0100963 Hyperesthesia biolink:PhenotypicFeature mondo UMLS:C0020453|MSH:D006941|SNOMEDCT_US:14151009 http://purl.obolibrary.org/obo/HP_0100963 Hyperaesthesia MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy biolink:Disease mondo UMLS:C3276549|OMIM:125250|Orphanet:3212|GARD:0009897 http://identifiers.org/omim/125250|UMLS:C3276549|ORPHA:3212 http://purl.obolibrary.org/obo/MONDO_0007429 optic atrophy 1 and deafness|optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|dominant optic atrophy plus syndrome MONDO:0007427 deafness with anhidrotic ectodermal dysplasia biolink:Disease mondo UMLS:C1852279|OMIM:125050|MESH:C565119 http://identifiers.org/omim/125050|MESH:C565119|UMLS:C1852279 http://purl.obolibrary.org/obo/MONDO_0007427 deafness with anhidrotic ectodermal dysplasia MONDO:0007428 deafness-craniofacial syndrome biolink:Disease mondo MESH:C565118|UMLS:C1852278|OMIM:125230|GARD:0001686|SCTID:716245003|ICD10:Q87.0|Orphanet:3241 Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. http://identifiers.org/omim/125230|SNOMEDCT:716245003|MESH:C565118|UMLS:C1852278|ORPHA:3241 http://purl.obolibrary.org/obo/MONDO_0007428 deafness-craniofacial syndrome|deafness craniofacial syndrome gard_rare|ordo_malformation_syndrome MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease biolink:Disease mondo OMIM:124950|MESH:C565120|UMLS:C1852280 MESH:C565120|http://identifiers.org/omim/124950|UMLS:C1852280 http://purl.obolibrary.org/obo/MONDO_0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease NCBITaxon:6236 Rhabditida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6236 MONDO:0007426 deafness, unilateral biolink:Disease mondo OMIM:125000|MESH:C567079|UMLS:C2607947 UMLS:C2607947|http://identifiers.org/omim/125000|MESH:C567079 http://purl.obolibrary.org/obo/MONDO_0007426 deafness, unilateral MONDO:0020401 congenital unguarded mitral orifice biolink:Disease mondo ICD10:Q23.3|Orphanet:99060 Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported. ORPHA:99060 http://purl.obolibrary.org/obo/MONDO_0020401 ordo_morphological_anomaly MONDO:0007423 deafness, mid-tone neural biolink:Disease mondo MESH:C565122|UMLS:C1852283|OMIM:124700 MESH:C565122|http://identifiers.org/omim/124700|UMLS:C1852283 http://purl.obolibrary.org/obo/MONDO_0007423 deafness, mid-tone neural MONDO:0020400 congenital supravalvular mitral ring biolink:Disease mondo Orphanet:99059|ICD10:Q23.2 Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported. ORPHA:99059 http://purl.obolibrary.org/obo/MONDO_0020400 ordo_morphological_anomaly MONDO:0007424 autosomal dominant nonsyndromic deafness 1 biolink:Disease mondo MESH:C565121|DOID:0110541|UMLS:C1852282|ICD10:H90.3|OMIM:124900 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene. MESH:C565121|http://identifiers.org/omim/124900|DOID:0110541|UMLS:C1852282 http://purl.obolibrary.org/obo/MONDO_0007424 deafness, progressive Low tone|deafness, autosomal dominant 1; DFNA1|deafness, autosomal dominant 1|autosomal dominant deafness 1|DIAPH1 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 1|hereditary low frequency hearing loss 1|LFHL1|autosomal dominant nonsyndromic deafness type 1|deafness, autosomal dominant 1, with or without thrombocytopenia|autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1|DFNA1|hereditary Low frequency hearing loss|Konigsmark syndrome MONDO:0007421 deafness-ear malformation-facial palsy syndrome biolink:Disease mondo SCTID:716243005|OMIM:124490|MESH:C565123|Orphanet:3232|ICD10:Q87.0 Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant. http://identifiers.org/omim/124490|MESH:C565123|SNOMEDCT:716243005|ORPHA:3232 http://purl.obolibrary.org/obo/MONDO_0007421 Sellars-Beighton syndrome|deafness, conductive stapedial, with EAR malformation and facial palsy ordo_malformation_syndrome MONDO:0007422 keratoderma hereditarium mutilans biolink:Disease mondo ICD9:757.39|ICD10:Q82.8|SCTID:24559001|MESH:C536457|GARD:0003092|Orphanet:494|OMIM:124500 MESH:C536457|http://identifiers.org/omim/124500|ORPHA:494|UMLS:C0265964|SNOMEDCT:24559001 http://purl.obolibrary.org/obo/MONDO_0007422 mutilating keratoderma of Vohwinkel|PPK mutilans and deafness|VOWNKL|keratoderma hereditarium mutilans|KHM|mutilating keratoderma plus deafness|Vohwinkel syndrome; VOWNKL|Vohwinkel syndrome|mutilating keratoderma|deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes ordo_disease MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome biolink:Disease mondo GARD:0004732|OMIM:124480|Orphanet:79499|UMLS:C2675730|ICD10:Q87.8 Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges. http://identifiers.org/omim/124480|UMLS:C2675730|ORPHA:79499 http://purl.obolibrary.org/obo/MONDO_0007420 deafness-onychodystrophy syndrome, autosomal dominant|Robinson Miller Bensimon syndrome|deafness, congenital, with onychodystrophy, autosomal dominant|Robinson-Miller-Bensimon syndrome|DDOD syndrome|deafness, congenital, with onychodystrophy, autosomal dominant; DDOD|deafness, congenital, and onychodystrophy, autosomal dominant; DDOD|deafness, congenital, and onychodystrophy, autosomal dominant|DDOD|Ddod syndrome|deafness and onychodystrophy, dominant form|autosomal dominant deafness-onychodystrophy syndrome|familial ectodermal dysplasia with sensori-neural deafness and other anomalies ordo_malformation_syndrome|gard_rare UBERON:0004066 frontonasal prominence biolink:AnatomicalEntity mondo The unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout. http://purl.obolibrary.org/obo/UBERON_0004066 frontonasal mass|prominentia frontonasalis|forebrain prominence|embryonic frontonasal prominence|frontonasal process HGNC:2472 CSRP3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2472 MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome biolink:Disease mondo SCTID:719825000|ICD10:Q87.8|Orphanet:85320|UMLS:CN206174 X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome. SNOMEDCT:719825000|ORPHA:85320|UMLS:CN206174 http://purl.obolibrary.org/obo/MONDO_0019419 Johnson syndrome ordo_malformation_syndrome UBERON:0004067 lateral nasal prominence biolink:AnatomicalEntity mondo The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it http://purl.obolibrary.org/obo/UBERON_0004067 lateral nasal swelling|lateral nasal process|latero-nasal process|prominentia nasalis lateralis UBERON:0004064 neural tube basal plate biolink:AnatomicalEntity mondo The region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons. http://purl.obolibrary.org/obo/UBERON_0004064 ventral part of neural tube|spinal cord basal plate|motor part of neural tube|basal plate of neural tube|basal plate MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome biolink:Disease mondo Orphanet:85317|ICD10:Q87.8|UMLS:CN206172 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. ORPHA:85317|UMLS:CN206172 http://purl.obolibrary.org/obo/MONDO_0019416 ordo_malformation_syndrome UBERON:0004062 neural tube marginal layer biolink:AnatomicalEntity mondo The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter http://purl.obolibrary.org/obo/UBERON_0004062 neural tube marginal zone|brain marginal zone MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia biolink:Disease mondo Orphanet:853|ICD10:P61.0|GARD:0002295|SCTID:240305000 Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids. ORPHA:853|SNOMEDCT:240305000 http://purl.obolibrary.org/obo/MONDO_0019415 NAIT gard_rare|ordo_disease UBERON:0004060 neural tube ventricular layer biolink:AnatomicalEntity mondo The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium http://purl.obolibrary.org/obo/UBERON_0004060 neural tube ventricular zone|neural tube ventricular germinal zone|neural tube ependymal layer|ependymal layer|neural tube ependymal zone MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:CN206173|Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. ORPHA:85319|UMLS:CN206173 http://purl.obolibrary.org/obo/MONDO_0019418 ordo_malformation_syndrome MONDO:0019417 X-linked intellectual disability-precocious puberty-obesity syndrome biolink:Disease mondo Orphanet:85318|ICD10:Q87.8|UMLS:CN227629 X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked. UMLS:CN227629|ORPHA:85318 http://purl.obolibrary.org/obo/MONDO_0019417 ordo_malformation_syndrome UBERON:0004061 neural tube mantle layer biolink:AnatomicalEntity mondo The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. http://purl.obolibrary.org/obo/UBERON_0004061 neural tube intermediate zone|future brain marginal layer MONDO:0019412 dysspondyloenchondromatosis biolink:Disease mondo ICD10:Q78.4|Orphanet:85198|UMLS:C4302548|SCTID:722434004 Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. ORPHA:85198|UMLS:C4302548|SNOMEDCT:722434004 http://purl.obolibrary.org/obo/MONDO_0019412 ordo_malformation_syndrome MONDO:0019411 genochondromatosis type 1 biolink:Disease mondo ICD10:Q78.4|Orphanet:85197 Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course. ORPHA:85197 http://purl.obolibrary.org/obo/MONDO_0019411 ordo_disease NCBITaxon:6246 Strongyloididae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6246 MONDO:0019414 BRESEK syndrome biolink:Disease mondo MESH:C564519|Orphanet:85284|UMLS:C3502469|SCTID:717945001|ICD10:Q87.8 X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). UMLS:C3502469|ORPHA:85284|MESH:C564519|SNOMEDCT:717945001 http://purl.obolibrary.org/obo/MONDO_0019414 BRESHECK syndrome ordo_malformation_syndrome MONDO:0019413 ischio-vertebral syndrome biolink:Disease mondo ICD10:Q77.8|UMLS:C4274732|Orphanet:85200|UMLS:CN206143|SCTID:715654001 Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism. ORPHA:85200|UMLS:CN206143|SNOMEDCT:715654001|UMLS:C4274732 http://purl.obolibrary.org/obo/MONDO_0019413 ischio-vertebral dysplasia|ischio-spinal dysostosis ordo_malformation_syndrome HGNC:2475 CST3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2475 MONDO:0019410 obsolete nodulosis-arthropathy-osteolysis syndrome biolink:Disease mondo ICD10:M89.5|UMLS:CN206138|Orphanet:85196 UMLS:CN206138|ORPHA:85196 http://purl.obolibrary.org/obo/MONDO_0019410 multicentric osteolysis-nodulosis-arthropathy syndrome|NAO syndrome ordo_clinical_subtype UBERON:0004068 medial nasal prominence biolink:AnatomicalEntity mondo The central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it http://purl.obolibrary.org/obo/UBERON_0004068 medial nasal swelling|nasomedial prominence|medial-nasal process|medial nasal process|prominentia nasalis medialis MONDO:0007438 dentin dysplasia-sclerotic bones syndrome biolink:Disease mondo Orphanet:99792|OMIM:125440|MESH:C538213|ICD10:K00.5|UMLS:C1852201|GARD:0001808 Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. http://identifiers.org/omim/125440|ORPHA:99792|UMLS:C1852201|MESH:C538213 http://purl.obolibrary.org/obo/MONDO_0007438 dentin dysplasia sclerotic bones|sclerotic bones with dentin dysplasia|dentin dysplasia with sclerotic bones ordo_disease NCBITaxon:6249 Ascaridomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6249 Ascaridida UBERON:0018692 dorsal side of post-anal tail biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0018692 MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency biolink:Disease mondo MESH:C565112|OMIM:125460|UMLS:C1852200 http://identifiers.org/omim/125460|MESH:C565112|UMLS:C1852200 http://purl.obolibrary.org/obo/MONDO_0007439 deoxyribose-5-phosphate aldolase deficiency MONDO:0007436 dentin dysplasia type I biolink:Disease mondo MESH:C531665|OMIM:125400|SCTID:109493006|MESH:C538215|ICD9:520.5|GARD:0001807|Orphanet:99789|UMLS:C0399379|ICD10:K00.5 Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth. ORPHA:99789|http://identifiers.org/omim/125400|SNOMEDCT:109493006|MESH:C531665|UMLS:C0399379|MESH:C538215 http://purl.obolibrary.org/obo/MONDO_0007436 dentin dysplasia, type I, with extreme microdontia and misshapen teeth|DTDP1|dentin dysplasia, type I; DTDP1|dentin dysplasia, type 1|dentin dysplasia, Shields type 1|DD-I|rootless teeth|dentin dysplasia, type I|radicular dentin dysplasia ordo_clinical_subtype|gard_rare NCBITaxon:6247 Strongyloides organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6247 NCBITaxon:6248 Strongyloides stercoralis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6248 MONDO:0007437 dentin dysplasia type II biolink:Disease mondo Orphanet:99791|OMIM:125420|ICD10:K00.5|SCTID:109494000|ICD9:520.5|GARD:0001806 Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition. http://identifiers.org/omim/125420|ORPHA:99791|SNOMEDCT:109494000 http://purl.obolibrary.org/obo/MONDO_0007437 pulpal dysplasia|dentin dyspalsia, Shields type 2|Dtdp2|dentin dysplasia, Shields type 2|DTDP2|pulp stones|dentin dysplasia, coronal|dentin dysplasia, type II|dentin dysplasia, type 2|coronal dentin dysplasia|anomalous dysplasia of dentin|dentin dysplasia, type II; DTDP2|DD-II ordo_clinical_subtype UBERON:0018691 ventral side of post-anal tail biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0018691 MONDO:0007434 primary failure of tooth eruption biolink:Disease mondo MESH:C565114|Orphanet:412206|UMLS:C1852222|ICD10:K00.8|OMIM:125350 MESH:C565114|UMLS:C1852222|ORPHA:412206|http://identifiers.org/omim/125350 http://purl.obolibrary.org/obo/MONDO_0007434 primary failure of eruption, nonsyndromic|posterior Openbite malocclusion, familial|failure of tooth eruption, primary; PFE|failure of tooth eruption, primary|unerupted second primary molar|primary retention of teeth|dental noneruption|PFE ordo_disease MONDO:0007435 dentatorubral-pallidoluysian atrophy biolink:Disease mondo ICD9:333.99|GARD:0005643|ICD10:G11.8|OMIM:125370|DOID:0060162|Orphanet:101|UMLS:C0751781|SCTID:68116008|NCIT:C122653 Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. ORPHA:101|UMLS:C0751781|SNOMEDCT:68116008|DOID:0060162|NCIT:C122653|http://identifiers.org/omim/125370 http://purl.obolibrary.org/obo/MONDO_0007435 haw River syndrome|DRPLA|ataxia, chorea, seizures, and dementia|dentatorubral pallidoluysian atrophy|Dentatorubropallidoluysian atrophy|NOD|myoclonic epilepsy with choreoathetosis|DRPLA|dentatorubral-pallidoluysian atrophy|Naito-Oyanagi disease|Naito Oyanagi disease|dentatorubral-pallidoluysian atrophy; DRPLA ordo_disease|gard_rare MONDO:0007432 CADASIL biolink:Disease mondo ICD9:323.9|DOID:13945|OMIMPS:125310|MESH:D046589|Orphanet:136|GARD:0001049|NCIT:C84606|SCTID:390936003|MedDRA:10065551|ICD10:F01.1|UMLS:C0751587|ICD9:447.8 CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients. UMLS:C0751587|DOID:13945|MESH:D046589|SNOMEDCT:390936003|NCIT:C84606|MEDDRA:10065551|ORPHA:136 http://purl.obolibrary.org/obo/MONDO_0007432 Casil|familial vascular leukoencephalopathy|dementia, hereditary multi-infarct type|hereditary multi-infarct dementia|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy with subcortical infaracts and leukoencephalopathy|CADASIL|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL|CADASIL syndrome prototype_pattern|ordo_disease MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques biolink:Disease mondo OMIM:125320|UMLS:C1852223|MESH:C565115 MESH:C565115|UMLS:C1852223|http://identifiers.org/omim/125320 http://purl.obolibrary.org/obo/MONDO_0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques MONDO:0007430 dens evaginatus biolink:Disease mondo SCTID:63691004|OMIM:125280 SNOMEDCT:63691004|http://identifiers.org/omim/125280 http://purl.obolibrary.org/obo/MONDO_0007430 dens evaginatus MONDO:0007431 dens in dente and palatal invaginations biolink:Disease mondo GARD:0010069|UMLS:C1852250|MESH:C538211|OMIM:125300 UMLS:C1852250|MESH:C538211|http://identifiers.org/omim/125300 http://purl.obolibrary.org/obo/MONDO_0007431 dens in dente and palatal INVAGINATIONS MONDO:0019409 idiopathic juvenile osteoporosis biolink:Disease mondo ICD9:733.02|SCTID:3345002|GARD:0006760|Orphanet:85193|NCIT:C119996|OMIM:259750|DOID:12559|UMLS:CN536248|MESH:C537700|ICD10:M81.5 Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. NCIT:C119996|http://identifiers.org/omim/259750|ORPHA:85193|MESH:C537700|SNOMEDCT:3345002|DOID:12559|UMLS:CN536248 http://purl.obolibrary.org/obo/MONDO_0019409 idiopathic osteoporosis|Ijo|Pediatric osteoporosis|osteoporosis, juvenile|juvenile osteoporosis|idiopathic juvenile osteoporosis ordo_malformation_syndrome MONDO:0019408 Astley-Kendall dysplasia biolink:Disease mondo MESH:C535392|GARD:0009220|ICD10:Q77.3|UMLS:C1300228|Orphanet:85175|SCTID:389263004 Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases. ORPHA:85175|MESH:C535392|UMLS:C1300228|SNOMEDCT:389263004 http://purl.obolibrary.org/obo/MONDO_0019408 Astley-Kendall syndrome|short limbed dwarfism with extensive stippling ordo_malformation_syndrome HGNC:2482 CSTB biolink:OntologyClass mondo http://identifiers.org/hgnc/2482 UBERON:0004053 external male genitalia biolink:AnatomicalEntity mondo The external masculine genital organs, including the penis and scrotum http://purl.obolibrary.org/obo/UBERON_0004053 male external genitalia|organa genitalia masculina externa|external male genital organ HGNC:2481 CSTA biolink:OntologyClass mondo http://identifiers.org/hgnc/2481 UBERON:0004054 internal male genitalia biolink:AnatomicalEntity mondo The internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands http://purl.obolibrary.org/obo/UBERON_0004054 male internal genitalia|organa genitalia masculina interna|internal male genital organ MONDO:0019405 facial onset sensory and motor neuronopathy biolink:Disease mondo SCTID:723306004|UMLS:CN206118|GARD:0012036|ICD10:G60.0|Orphanet:85162 Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. SNOMEDCT:723306004|ORPHA:85162|UMLS:CN206118 http://purl.obolibrary.org/obo/MONDO_0019405 facial onset sensory and motor neuronopathy syndrome|FOSMN syndrome|facial onset sensorimotor neuronopathy syndrome gard_rare|ordo_disease MONDO:0019404 perineurioma biolink:Disease mondo ICDO:9571/0|UMLS:C0751691|ICD9:215.9|GARD:0012698|SCTID:404036006|DOID:4697|Orphanet:85102|ICD10:C47.9|NCIT:C4973 A usually benign perineurioma not associated with a nerve, arising from the soft tissues. ORPHA:85102|DOID:4697|UMLS:C0751691|SNOMEDCT:404036006|NCIT:C4973 http://purl.obolibrary.org/obo/MONDO_0019404 perineurioma|soft tissue perineurioma ordo_group_of_disorders|gard_rare MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type biolink:Disease mondo OMIM:618150|ORDO:85172|DOID:0111673|ICD10:Q78.8|Orphanet:85172 A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1. ORPHA:85172|http://identifiers.org/omim/618150|DOID:0111673 http://purl.obolibrary.org/obo/MONDO_0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type|Saul-Wilson syndrome; SWILS|SWILS|microcephalic osteodysplastic dysplasia|Saul-Wilson syndrome ordo_disease NCBITaxon:162474 Malasseziales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_162474 MONDO:0019406 craniofacial conodysplasia biolink:Disease mondo Orphanet:85168|ICD10:Q87.5 Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. ORPHA:85168 http://purl.obolibrary.org/obo/MONDO_0019406 ordo_malformation_syndrome MONDO:0019401 sporadic idiopathic steroid-resistant nephrotic syndrome biolink:Disease mondo ICD10:N04.3|ICD10:N04.1|UMLS:C4274017|SCTID:717191005|Orphanet:84271|ICD10:N04.8 Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. ORPHA:84271|SNOMEDCT:717191005|UMLS:C4274017 http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic nephrosis ordo_clinical_syndrome MONDO:0019400 obsolete testicular seminomatous germ cell tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019400 MONDO:0019403 congenital dyserythropoietic anemia biolink:Disease mondo MESH:D000742|UMLS:C0002876|SCTID:52951008|OMIMPS:224120|GARD:0001999|ICD9:285.8|NCIT:C84646|ICD10:D64.4|DOID:1338|Orphanet:85 Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA. UMLS:C0002876|MESH:D000742|DOID:1338|SNOMEDCT:52951008|ORPHA:85|NCIT:C84646 http://purl.obolibrary.org/obo/MONDO_0019403 dyserythropoietic anemia, congenital|anemia, congenital dyserythropoietic|CDA|congenital dyshaematopoietic anaemia ordo_group_of_disorders MONDO:0019402 beta thalassemia biolink:Disease mondo MESH:D017086|COHD:4278669|GARD:0000871|SCTID:65959000|MedDRA:10043391|Orphanet:848|ICD9:282.49|NCIT:C34375|ICD10:D56.1|ICD9:282.44|DOID:12241 Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). SNOMEDCT:65959000|NCIT:C34375|ORPHA:848|DOID:12241|MESH:D017086|UMLS:C0005283|MEDDRA:10043391 http://purl.obolibrary.org/obo/MONDO_0019402 erythroblastic anemia|Thalassemias, beta-|thalassemia major|Beta thalassemia minor|Beta thalassemia intermedia|thalassemia, Hispanic gamma-delta-beta ordo_disease HGNC:2488 NKX2-5 biolink:OntologyClass mondo http://identifiers.org/hgnc/2488 NCBITaxon:6252 Ascaris lumbricoides organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6252 common roundworm NCBITaxon:6250 Ascarididae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6250 UBERON:0004058 biliary ductule biolink:AnatomicalEntity mondo One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] http://purl.obolibrary.org/obo/UBERON_0004058 terminal cholangiole|bile ductule|bile capillary|biliary ductule|ductuli biliferi|cholangiole|biliary ductule NCBITaxon:6251 Ascaris organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6251 MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome biolink:Disease mondo ICD10:Q87.8|OMIM:123560|MESH:C536219|Orphanet:1547|GARD:0008174|SCTID:725096002|UMLS:C1852454 Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988. UMLS:C1852454|SNOMEDCT:725096002|MESH:C536219|ORPHA:1547|http://identifiers.org/omim/123560 http://purl.obolibrary.org/obo/MONDO_0007409 CRYPTOMICROTIA-brachydactyly syndrome|Cryptomicrotia brachydactyly syndrome|Cryptomicrotia-brachydactyly syndrome|Cryptomicrotia brachydactyly syndrome excess fingertip arch|Tonoki Ohura Niikawa syndrome|Tonoki-Ohura-Niikawa syndrome|bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch ordo_malformation_syndrome MONDO:0007407 Cryoglobulinemic vasculitis biolink:Disease mondo ICD10:D89.1|MedDRA:10027756|OMIM:123550|GARD:0006386|ICD9:273.2|Orphanet:91138|UMLS:C0343208|UMLS:C1852456|SCTID:190815001|UMLS:C0272258|MESH:C565141|UMLS:C0340992 Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. UMLS:C0340992|MEDDRA:10027756|UMLS:C0272258|ORPHA:91138|UMLS:C0543697|UMLS:C0343208|MESH:C565141|http://identifiers.org/omim/123550|SNOMEDCT:190815001|UMLS:C1852456 http://purl.obolibrary.org/obo/MONDO_0007407 essential mixed cryoglobulinemia|mixed cryoglobulinemia|essential cryoglobulinemia|Meltzer syndrome|familial mixed cryoglobulinemia|primary cryoglobulinemia|cryoglobulinemia, familial mixed|MC ordo_disease MONDO:0007408 cryptotia, familial biolink:Disease mondo OMIM:123557|UMLS:C1852455|MESH:C565140 UMLS:C1852455|MESH:C565140|http://identifiers.org/omim/123557 http://purl.obolibrary.org/obo/MONDO_0007408 cryptotia, familial MONDO:0007405 Crouzon syndrome biolink:Disease mondo MESH:D003394|DOID:2339|Orphanet:207|NCIT:C84653|OMIM:123500|UMLS:CN200892|GARD:0006206|ICD10:Q75.1|SCTID:28861008 Crouzon disease is characterized by craniosynostosis and facial hypoplasia. NCIT:C84653|MESH:D003394|SNOMEDCT:28861008|ORPHA:207|UMLS:CN200892|http://identifiers.org/omim/123500|DOID:2339 http://purl.obolibrary.org/obo/MONDO_0007405 Crouzon craniofacial dysostosis|Crouzon syndrome|craniofacial dysostosis, type 1|craniofacial dysostosis type 1|Crouzon's disease|Crouzon disease|craniofacial dysostosis|Cfd1 gard_rare|ordo_malformation_syndrome MONDO:0007406 cryofibrinogenemia, familial primary biolink:Disease mondo OMIM:123540|MESH:C565142|UMLS:C1852457 MESH:C565142|http://identifiers.org/omim/123540|UMLS:C1852457 http://purl.obolibrary.org/obo/MONDO_0007406 cryofibrinogenemia, familial primary MONDO:0007403 inherited Creutzfeldt-Jakob disease biolink:Disease mondo SCTID:715807002|ICD10:A81.0|OMIM:123400|UMLS:CN202816|Orphanet:282166 Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. SNOMEDCT:715807002|UMLS:CN202816|ORPHA:282166|http://identifiers.org/omim/123400 http://purl.obolibrary.org/obo/MONDO_0007403 Creutzfeldt-Jakob disease, variant|Creutzfeldt-Jakob disease, familial|Creutzfeldt-Jakob disease, sporadic|inherited CJD|Creutzfeldt-Jakob disease; CJD|hereditary Creutzfeldt Jacob disease|Creutzfeldt-Jakob disease|Creutzfeldt-Jakob disease, Heidenhain variant|CJD ordo_disease MONDO:0007404 Cri-du-chat syndrome biolink:Disease mondo GARD:0006213|UMLS:CN776901|NCIT:C34518|DOID:12580|ICD10:Q93.4|MedDRA:10011385|SCTID:70173007|ICD9:758.39|Orphanet:281|ICD9:758.31|UMLS:C0010314|MESH:D003410|OMIM:123450 Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. MESH:D003410|MESH:C538482|MEDDRA:10011385|NCIT:C34518|ORPHA:281|SNOMEDCT:70173007|http://identifiers.org/omim/123450|UMLS:C0010314|DOID:12580|UMLS:CN776901|UMLS:C2931860 http://purl.obolibrary.org/obo/MONDO_0007404 deletion 5p|monosomy 5p|chromosome 5p- syndrome|5p minus syndrome|5p partial monosomy syndrome|chromosome 5p deletion syndrome|5p deletion syndrome|chromosome 5P deletion syndrome|Cat-Cry syndrome|Cri-du-chat syndrome|monosomy type 5p|5p- syndrome|chromosome 5 short arm deletion syndrome|Cri du chat syndrome|Cat Cry syndrome ordo_malformation_syndrome MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome biolink:Disease mondo GARD:0000998|MESH:C563973|OMIM:123155|ICD10:Q03.1|SCTID:720813007|UMLS:CN199608|ICD10:Q75.0|GARD:0001592|Orphanet:1538 Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. ORPHA:1538|http://identifiers.org/omim/123155|UMLS:CN199608|SNOMEDCT:720813007|MESH:C563973 http://purl.obolibrary.org/obo/MONDO_0007401 sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus|Braddock Jones Superneau syndrome|Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus|hydrocephalus, autosomal dominant|HDCPH1|hydrocephalus, autosomal dominant; HDCPH1|craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome|Braddock-Jones-Superneau syndrome gard_rare|ordo_malformation_syndrome MONDO:0007402 creatine phosphokinase, elevated serum biolink:Disease mondo OMIM:123320 http://identifiers.org/omim/123320 http://purl.obolibrary.org/obo/MONDO_0007402 creatine phosphokinase, elevated serum|hyperCKemia, idiopathic|CPK, elevated serum MONDO:0007400 Jackson-Weiss syndrome biolink:Disease mondo OMIM:123150|ICD10:Q87.8|UMLS:C0795998|SCTID:709105005|NCIT:C123814|Orphanet:1540|GARD:0006796|ICD9:759.89|MESH:C537559 Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients. NCIT:C123814|ORPHA:1540|UMLS:C0795998|MESH:C537559|http://identifiers.org/omim/123150|SNOMEDCT:709105005 http://purl.obolibrary.org/obo/MONDO_0007400 Jackson-Weiss syndrome; JWS|Jackson-Weiss syndrome|craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|craniosynostosis, midfacial hypoplasia, and foot abnormalities|JWS ordo_malformation_syndrome|gard_rare HGNC:2494 CTBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2494 UBERON:0004040 cortical intermediate zone biolink:AnatomicalEntity mondo The region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone http://purl.obolibrary.org/obo/UBERON_0004040 cerebral cortex mantle layer|cortical mantle layer|IZ|cerebral cortex mantle zone HGNC:2498 CTDP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2498 UBERON:0018674 heart vasculature biolink:AnatomicalEntity mondo An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. http://purl.obolibrary.org/obo/UBERON_0018674 cardiac vasculature MONDO:0007418 Darwinian tubercle of pinna biolink:Disease mondo OMIM:124400|OMIM:124300|UMLS:C2751189 http://identifiers.org/omim/124400|http://identifiers.org/omim/124300|UMLS:C2751189 http://purl.obolibrary.org/obo/MONDO_0007418 Darwinian point of Pinna|Darwinian Notch|Darwinian tubercle of pinna merged_class MONDO:0007419 obsolete Darwinian tubercle of pinna biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007419 UBERON:0018673 neck of fibula biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0018673 fibular neck|fibula neck MONDO:0007416 Balkan nephropathy biolink:Disease mondo NCIT:C123025|UMLS:C4049993|ICD9:583.89|DOID:3052|OMIM:124100|MESH:D001449|UMLS:C0004698|ICD10:N15.0|SCTID:26121002|GARD:0008576|EFO:0007164 A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. SNOMEDCT:26121002|MESH:D001449|http://identifiers.org/omim/124100|DOID:3052|UMLS:C4049993|NCIT:C123025|NCIT:C84584|UMLS:C0004698 http://purl.obolibrary.org/obo/MONDO_0007416 Danubian endemic familial nephropathy|aristolochic acid nephropathy|Balkan endemic nephropathy|DEFN|AAN|BEN|Chinese herb endemic nephropathy|endemic nephropathy|nephropathia epidemica|Balkan endemic nephropathy MONDO:0007417 Darier disease biolink:Disease mondo ICD10:Q82.8|SCTID:48611009|MedDRA:10023369|DOID:2734|NCIT:C84665|GARD:0006243|ICD9:757.39|ICD10:E50.8|UMLS:C0022595|Wikipedia:Darier%27s_disease|OMIM:124200|Orphanet:218 Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies. MEDDRA:10023369|ORPHA:218|http://identifiers.org/omim/124200|SNOMEDCT:48611009|MESH:D007644|DOID:2734|UMLS:C0022595|NCIT:C84665 http://purl.obolibrary.org/obo/MONDO_0007417 Darier White disease|Darier disease, segmental|Darier-White disease|DAR|Darier-White disease; dar|Darier disease, acral hemorrhagic type|Darier disease|keratosis follicularis|Darier's disease ordo_disease MONDO:0007414 Gorham-Stout disease biolink:Disease mondo GARD:0006542|Orphanet:73|SCTID:1515008|ICD10:M89.5|ICD9:733.99|OMIM:123880|MedDRA:10071283 Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture. SNOMEDCT:1515008|http://identifiers.org/omim/123880|ORPHA:73|UMLS:C0029438|MEDDRA:10071283 http://purl.obolibrary.org/obo/MONDO_0007414 idiopathic massive osteolysis|Gorham-Stout disease|osteolysis, massive|vanishing bone disease|cystic angiomatosis of bone, diffuse|progressive massive osteolysis|cystic angiomatosis of bone diffuse|Gorham syndrome|Gorham disease|osteolysis massive ordo_malformation_syndrome MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 biolink:Disease mondo MESH:C565128|GARD:0008295|DOID:0080111|OMIM:124000 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene. DOID:0080111|http://identifiers.org/omim/124000|MESH:C565128 http://purl.obolibrary.org/obo/MONDO_0007415 mitochondrial complex III deficiency, nuclear type 1|mitochondrial complex III deficiency, nuclear type 1; MC3DN1|Complex 3 mitochondrial respiratory chain deficiency|BCS1L mitochondrial complex III deficiency|MC3DN1|mitochondrial Complex 3 deficiency, nuclear type 1|mitochondrial complex III deficiency caused by mutation in BCS1L|mitochondrial complex III deficiency gard_rare MONDO:0007412 Beare-Stevenson cutis gyrata syndrome biolink:Disease mondo MESH:C565129|OMIM:123790|UMLS:C1852406|GARD:0000332|Orphanet:1555|NCIT:C123813|ICD10:Q87.8|DOID:0050660|ICD9:759.89|SCTID:703528008 Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy. NCIT:C123813|ORPHA:1555|MESH:C565129|DOID:0050660|http://identifiers.org/omim/123790|UMLS:C1852406|SNOMEDCT:703528008 http://purl.obolibrary.org/obo/MONDO_0007412 Beare Stevenson syndrome|cutis gyrata syndrome of Beare and Stevenson|Beare-Stevenson cutis gyrata syndrome|Beare-Stevenson syndrome|cutis gyrata - acanthosis nigricans - craniosynostosis|Beare-Stevenson cutis gyrata syndrome; BSTVS|cutis gyrata-acanthosis nigricans-craniosynostosis syndrome|BSTVS gard_rare|ordo_malformation_syndrome MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome biolink:Disease mondo Orphanet:2674|UMLS:C1852396|SCTID:732261005|ICD10:Q87.8|OMIM:123853|GARD:0009487|MESH:C536229 Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects. ORPHA:2674|MESH:C536229|SNOMEDCT:732261005|http://identifiers.org/omim/123853|UMLS:C1852396 http://purl.obolibrary.org/obo/MONDO_0007413 unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects|CYPRUS facial neuromusculoskeletal syndrome ordo_malformation_syndrome|gard_rare MONDO:0007410 isolated cryptophthalmia biolink:Disease mondo OMIM:123570|MESH:C565138|UMLS:C1852453|Orphanet:91396|ICD10:Q11.2|SCTID:718691008 Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant. MESH:C565138|http://identifiers.org/omim/123570|UMLS:C1852453|SNOMEDCT:718691008|ORPHA:91396 http://purl.obolibrary.org/obo/MONDO_0007410 cryptophthalmos with microphthalmia and Peters anomaly|nonsyndromic cryptophthalmia|cryptophthalmos, unilateral or bilateral, isolated|ankyloblepharon, simple ordo_morphological_anomaly MONDO:0007411 cutis laxa, autosomal dominant 1 biolink:Disease mondo UMLS:C3276539|DOID:0070130|OMIM:123700|ICD10:Q82.8 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene. http://identifiers.org/omim/123700|UMLS:C3276539|DOID:0070130 http://purl.obolibrary.org/obo/MONDO_0007411 ELN autosomal dominant cutis laxa|ADCL1|autosomal dominant cutis laxa caused by mutation in ELN|autosomal dominant cutis laxa 1|cutis laxa, autosomal dominant type 1|cutis laxa, autosomal dominant 1|cutis laxa, autosomal dominant 1; ADCL1 UBERON:0006694 cerebellum vasculature biolink:AnatomicalEntity mondo A vasculature that is part of a cerebellum. http://purl.obolibrary.org/obo/UBERON_0006694 UBERON:0006692 vertebral canal biolink:AnatomicalEntity mondo A conduit enclosed within the vertebral foramen of the vertebrae through which the spinal cord passes. http://purl.obolibrary.org/obo/UBERON_0006692 neural canal|vertebral canal|spinal cavity|spinal canal|foramen vertebrale|c. vertebralis NCBITaxon:6231 Nematoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6231 roundworms|roundworm|nematodes|Nemata|nematodes|nematode UBERON:0004035 cortical subplate biolink:AnatomicalEntity mondo The transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate http://purl.obolibrary.org/obo/UBERON_0004035 SP|subplate|subplate zone|cerebral cortex subplate GO:0032838 plasma membrane bounded cell projection cytoplasm biolink:OntologyClass mondo All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. http://purl.obolibrary.org/obo/GO_0032838 GO:0005215 transporter activity biolink:OntologyClass mondo Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. http://purl.obolibrary.org/obo/GO_0005215 carrier GO:0005216 ion channel activity biolink:OntologyClass mondo Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). http://purl.obolibrary.org/obo/GO_0005216 NCBITaxon:6281 Onchocerca organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6281 NCBITaxon:6282 Onchocerca volvulus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6282 UBERON:0006603 presumptive mesoderm biolink:AnatomicalEntity mondo Presumptive structure of the blastula that will develop into mesoderm. http://purl.obolibrary.org/obo/UBERON_0006603 UBERON:0006601 presumptive ectoderm biolink:AnatomicalEntity mondo Presumptive structure of the blastula that will develop into ectoderm. http://purl.obolibrary.org/obo/UBERON_0006601 presumptive epidermis NCBITaxon:6286 Dirofilaria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6286 HP:0002300 Mutism biolink:PhenotypicFeature mondo MSH:D009155|SNOMEDCT_US:88052002|UMLS:C0026884 http://purl.obolibrary.org/obo/HP_0002300 Inability to speak|Muteness GO:0019866 organelle inner membrane biolink:OntologyClass mondo The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites. http://purl.obolibrary.org/obo/GO_0019866 NCBITaxon:6296 Onchocercidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6296 NCBITaxon:6295 Filarioidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6295 NCBITaxon:6258 Baylisascaris organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6258 NCBITaxon:6259 Baylisascaris procyonis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6259 raccoon roundworm NCBITaxon:6267 Anisakidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6267 NCBITaxon:6268 Anisakis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6268 NCBITaxon:6264 Toxocara organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6264 NCBITaxon:693995 Coronavirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_693995 NCBITaxon:693996 Alphacoronavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_693996 Group 1 species|Coronavirus group 1|Coronavirus NCBITaxon:6269 Anisakis simplex organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6269 herring worm NCBITaxon:693997 Alphacoronavirus 1 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_693997 Alphacoronavirus-1 NCBITaxon:91493 Exserohilum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_91493 Setosphaeria GO:0019842 vitamin binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/GO_0019842 NCBITaxon:6274 Spirurina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurida HP:0002334 Abnormality of the cerebellar vermis biolink:PhenotypicFeature mondo UMLS:C4025712 An anomaly of the vermis of cerebellum. http://purl.obolibrary.org/obo/HP_0002334 GO:0019814 immunoglobulin complex biolink:OntologyClass mondo A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0019814 antibody GO:0019815 B cell receptor complex biolink:OntologyClass mondo An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/GO_0019815 immunoglobulin complex, membrane bound|B cell receptor accessory molecule complex|B-lymphocyte receptor complex|BCR complex|B lymphocyte receptor complex|B-cell receptor complex|antibody UBERON:0006648 adventitia of seminal vesicle biolink:AnatomicalEntity mondo An adventitia that is part of a seminal vesicle. http://purl.obolibrary.org/obo/UBERON_0006648 tunica adventitia glandulae vesiculosae|adventitia of seminal gland|seminal vesicle adventitia|tunica adventitia (vesicula seminalis) UBERON:0006647 adventitia of ductus deferens biolink:AnatomicalEntity mondo An adventitia that is part of a vas deferens. http://purl.obolibrary.org/obo/UBERON_0006647 tunica adventitia (ductus deferens)|deferent ductal adventitia|adventitia of deferent duct|adventitia of vas deferens|tunica adventitia ductus deferentis|adventitia of ductus deferens UBERON:0006646 muscle layer of epididymis biolink:AnatomicalEntity mondo A muscle layer that is part of a epididymis. http://purl.obolibrary.org/obo/UBERON_0006646 UBERON:0006645 adventitia of epididymis biolink:AnatomicalEntity mondo An adventitia that is part of a epididymis. http://purl.obolibrary.org/obo/UBERON_0006645 epididymis adventitia UBERON:0006642 muscle layer of oviduct biolink:AnatomicalEntity mondo A muscle layer that is part of a fallopian tube. http://purl.obolibrary.org/obo/UBERON_0006642 muscular coat of uterine tube|muscle layer of fallopian tube|muscularis of uterine tube|tunica muscularis (Tuba uterina)|tunica muscularis tubae uterinae|muscle layer of uterine tube|uterine tubal muscularis|muscular layer of uterine tube|muscle layer of oviduct NCBITaxon:400053 Sylvaemus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_400053 CHEBI:43474 hydrogenphosphate biolink:ChemicalSubstance mondo A phosphate ion that is the conjugate base of dihydrogenphosphate. http://purl.obolibrary.org/obo/CHEBI_43474 hydrogen(tetraoxidophosphate)(2-)|HYDROGENPHOSPHATE ION|hydrogentetraoxophosphate(V)|hydrogentetraoxophosphate(2-)|hydrogenphosphate|INORGANIC PHOSPHATE GROUP|HPO4(2-)|[P(OH)O3](2-)|[PO3(OH)](2-)|phosphate|hydrogen phosphate|hydroxidotrioxidophosphate(2-) HP:0002344 Progressive neurologic deterioration biolink:PhenotypicFeature mondo UMLS:C1854838 http://purl.obolibrary.org/obo/HP_0002344 Progressive neurodegeneration|Neurologic deterioration|Neurologic deterioration, progressive|Progressive mental deterioration|Worsening neurological symptoms HP:0002345 Action tremor biolink:PhenotypicFeature mondo MSH:D014202|UMLS:C0234376|UMLS:C4020853|SNOMEDCT_US:30721006 A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. http://purl.obolibrary.org/obo/HP_0002345 Ataxic tremor FOODON:00001563 has defining ingredient biolink:OntologyClass mondo A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient. http://purl.obolibrary.org/obo/FOODON_00001563 UBERON:0006635 anterior abdominal wall biolink:AnatomicalEntity mondo The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus). http://purl.obolibrary.org/obo/UBERON_0006635 ventral abdominal wall HGNC:2400 CRYBB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2400 UBERON:0006633 coracoid process of scapula biolink:AnatomicalEntity mondo A process of the scapula in most mammals representing the remnant of the coracoid bone of lower vertebrates thas has become fused with the scapula. http://purl.obolibrary.org/obo/UBERON_0006633 processus coracoideus|coracoid process of the scapula|coracoid process UBERON:0006632 musculo-phrenic artery biolink:AnatomicalEntity mondo An artery with its origin in the lateral terminal branch of the internal thoracic artery, with distribution to the diaphragm and the intercostal muscles, and with anastomoses to the branches of the pericardiacophrenic and inferior phrenic. http://purl.obolibrary.org/obo/UBERON_0006632 musculophrenic artery HGNC:2409 CRYGB biolink:OntologyClass mondo http://identifiers.org/hgnc/2409 UBERON:0006617 left external ear biolink:AnatomicalEntity mondo An external ear that is in the left side of a multicellular organism. http://purl.obolibrary.org/obo/UBERON_0006617 left auricular region HP:0002315 Headache biolink:PhenotypicFeature mondo MSH:D006261|UMLS:C0018681|SNOMEDCT_US:25064002 Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. http://purl.obolibrary.org/obo/HP_0002315 Headache|Headaches HGNC:2411 CRYGD biolink:OntologyClass mondo http://identifiers.org/hgnc/2411 HGNC:2410 CRYGC biolink:OntologyClass mondo http://identifiers.org/hgnc/2410 HGNC:2418 CRYM biolink:OntologyClass mondo http://identifiers.org/hgnc/2418 HGNC:2417 CRYGS biolink:OntologyClass mondo http://identifiers.org/hgnc/2417 UBERON:0006606 mandibular symphysis biolink:AnatomicalEntity mondo A cartilaginous joint that connects left and right mandibles/dentary bones. Mandibular symphysis is unpaired[TAO,modified]. http://purl.obolibrary.org/obo/UBERON_0006606 symphysis menti|inter-dentary joint|mental symphysis|symphysis mandibulae|inter-mandibular joint|dentary symphysis HP:0002329 Drowsiness biolink:PhenotypicFeature mondo SNOMEDCT_US:79519003|MSH:D012894|UMLS:C0013144|SNOMEDCT_US:271782001 Excessive daytime sleepiness. http://purl.obolibrary.org/obo/HP_0002329 Sleepy|Drowsiness HP:0002321 Vertigo biolink:PhenotypicFeature mondo SNOMEDCT_US:399153001|UMLS:C0012833|MSH:D004244|UMLS:C0042571|SNOMEDCT_US:399090003|MSH:D014717|SNOMEDCT_US:404640003|SNOMEDCT_US:271789005 An abnormal sensation of spinning while the body is actually stationary. http://purl.obolibrary.org/obo/HP_0002321 Dizziness|Dizzy spell UBERON:0006616 right external ear biolink:AnatomicalEntity mondo An external ear that is in the right side of a multicellular organism. http://purl.obolibrary.org/obo/UBERON_0006616 right auricular region UBERON:0006615 venous sinus biolink:AnatomicalEntity mondo A large vein or channel for the circulation of venous blood http://purl.obolibrary.org/obo/UBERON_0006615 blood sinus UBERON:0006614 aponeurosis biolink:AnatomicalEntity mondo A sheet of extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0006614 aponeurotic|aponeuroses MONDO:0044250 obsolete tongue curling, folding, or rolling biolink:Disease mondo OMIM:189300 http://identifiers.org/omim/189300 http://purl.obolibrary.org/obo/MONDO_0044250 tongue curling, folding, or rolling|cloverleaf tongue|trefoil tongue MONDO:0020283 uveitis (disease) biolink:Disease mondo Orphanet:98715|NCIT:C26909|EFO:1001231|HP:0000554|UMLS:C0042164|MESH:D014605|SCTID:128473001|ICD10:H20.9|DOID:13141|MedDRA:10046851 An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. MESH:D014605|UMLS:C0042164|ORPHA:98715|DOID:13141|MEDDRA:10046851|NCIT:C26909|SNOMEDCT:128473001 http://purl.obolibrary.org/obo/MONDO_0020283 uveitis|uvea inflammation|inflammation of uvea ordo_group_of_disorders MONDO:0019294 mixed dermis disorder biolink:Disease mondo UMLS:CN227617|Orphanet:79380 UMLS:CN227617|ORPHA:79380 http://purl.obolibrary.org/obo/MONDO_0019294 ordo_group_of_disorders MONDO:0019293 skin vascular disease biolink:Disease mondo SCTID:11263005|DOID:9540|UMLS:C0162819|MedDRA:10062171|ICD9:709.1|MESH:D017445|NCIT:C35254|Orphanet:79379|COHD:316501 A disease that involves the superficial vasculature. DOID:9540|MESH:D017445|SNOMEDCT:11263005|NCIT:C35254|UMLS:C0162819|MEDDRA:10062171|ORPHA:79379 http://purl.obolibrary.org/obo/MONDO_0019293 vascular disorders of skin|skin vascular disorder|vascular disease of the skin|vascular skin disease|superficial vasculature disease|vascular disorder of skin|disorder of blood vessels affecting skin|vasculature skin disease ordo_group_of_disorders MONDO:0020282 metabolic disease with macular cherry-red spot biolink:Disease mondo Orphanet:98714|UMLS:CN207085 UMLS:CN207085|ORPHA:98714 http://purl.obolibrary.org/obo/MONDO_0020282 ordo_group_of_disorders MONDO:0020281 metabolic disease with pigmentary retinitis biolink:Disease mondo UMLS:CN207084|Orphanet:98713 UMLS:CN207084|ORPHA:98713 http://purl.obolibrary.org/obo/MONDO_0020281 ordo_group_of_disorders MONDO:0019296 subcutaneous tissue disease biolink:Disease mondo UMLS:C1290008|Orphanet:79382 A disease involving the superficial fascia. UMLS:C1290008|ORPHA:79382 http://purl.obolibrary.org/obo/MONDO_0019296 disease of superficial fascia|disease or disorder of superficial fascia|disorder of superficial fascia|superficial fascia disease|superficial fascia disease or disorder|disorder of superficial fascia ordo_group_of_disorders MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 biolink:Disease mondo OMIM:210750 http://identifiers.org/omim/210750 http://purl.obolibrary.org/obo/MONDO_0044252 SHEP6|skin/hair/eye pigmentation 6, Blond/Brown hair|skin/hair/eye pigmentation, variation IN, 6; SHEP6|skin/hair/eye pigmentation 6, blue/Green eyes MONDO:0020280 metabolic disease with cataract biolink:Disease mondo UMLS:CN207083|Orphanet:98712 UMLS:CN207083|ORPHA:98712 http://purl.obolibrary.org/obo/MONDO_0020280 ordo_group_of_disorders MONDO:0044251 obsolete australia antigen biolink:Disease mondo OMIM:209800 http://identifiers.org/omim/209800 http://purl.obolibrary.org/obo/MONDO_0044251 Australia antigen MONDO:0019295 obsolete other dermis disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019295 MONDO:0019290 hypopigmentation of the skin (disease) biolink:Disease mondo Orphanet:79376|HP:0001010|MedDRA:10040868|MESH:D017496 A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. MEDDRA:10040868|ORPHA:79376|MESH:D017496 http://purl.obolibrary.org/obo/MONDO_0019290 hypopigmentation of the skin|hypomelanoses|hypomelanosis ordo_group_of_disorders MONDO:0019292 dermis elastic tissue disorder biolink:Disease mondo UMLS:CN227616|Orphanet:79378 UMLS:CN227616|ORPHA:79378 http://purl.obolibrary.org/obo/MONDO_0019292 ordo_group_of_disorders MONDO:0019291 obsolete rare genetic dermis disorder biolink:Disease mondo UMLS:CN227615|Orphanet:79377 UMLS:CN227615|ORPHA:79377 http://purl.obolibrary.org/obo/MONDO_0019291 dermis disorder obsoletion_candidate|ordo_group_of_disorders MONDO:0044258 obsolete methane production biolink:Disease mondo OMIM:250650 http://identifiers.org/omim/250650 http://purl.obolibrary.org/obo/MONDO_0044258 methane production MONDO:0044257 obsolete lutheran null biolink:Disease mondo OMIM:247420 Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported. http://identifiers.org/omim/247420 http://purl.obolibrary.org/obo/MONDO_0044257 recessive 50U (A-B-) phenotype|Lutheran null MONDO:0020289 congenital tricuspid malformation biolink:Disease mondo ICD10:Q22.9|ICD10:Q22.8|ICD10:Q22.5|HP:0001702|ICD10:Q22.4|Orphanet:98721 ORPHA:98721 http://purl.obolibrary.org/obo/MONDO_0020289 ordo_group_of_disorders MONDO:0020288 atrioventricular valve anomaly biolink:Disease mondo Orphanet:98720 ORPHA:98720 http://purl.obolibrary.org/obo/MONDO_0020288 ordo_group_of_disorders MONDO:0044259 obsolete skin/hair/eye pigmentation, variation in, 2 biolink:Disease mondo OMIM:266300 Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action. http://identifiers.org/omim/266300 http://purl.obolibrary.org/obo/MONDO_0044259 Blond hair/fair skin|SHEP2|Rha|UV-induced skin damage, susceptibility to|skin/hair/eye pigmentation, variation IN, 2; SHEP2|hair color 2|Red hair color MONDO:0044254 obsolete dermatoglyphics--hypothenar radial arch biolink:Disease mondo OMIM:221780 http://identifiers.org/omim/221780 http://purl.obolibrary.org/obo/MONDO_0044254 dermatoglyphics--hypothenar radial arch MONDO:0020287 pulmonary artery or pulmonary branch anomaly biolink:Disease mondo Orphanet:98719 ORPHA:98719 http://purl.obolibrary.org/obo/MONDO_0020287 ordo_group_of_disorders MONDO:0044253 obsolete dermatoglyphics--palmar triradius d, absence of biolink:Disease mondo OMIM:221760 http://identifiers.org/omim/221760 http://purl.obolibrary.org/obo/MONDO_0044253 dermatoglyphics--palmar triradius d, absence of MONDO:0020286 aortic malformation biolink:Disease mondo Orphanet:98718 ORPHA:98718 http://purl.obolibrary.org/obo/MONDO_0020286 ordo_group_of_disorders MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 biolink:Disease mondo OMIM:227240 http://identifiers.org/omim/227240 http://purl.obolibrary.org/obo/MONDO_0044256 skin/hair/eye pigmentation, variation IN, 5; SHEP5|skin/hair/eye pigmentation 5, Black/nonblack hair|skin/hair/eye pigmentation 5, dark/fair skin|SHEP5|skin/hair/eye pigmentation 5, dark/Light eyes MONDO:0020285 transposition of the great arteries and conotruncal cardiac anomaly biolink:Disease mondo Orphanet:98717 ORPHA:98717 http://purl.obolibrary.org/obo/MONDO_0020285 ordo_group_of_disorders MONDO:0020284 heart position anomaly biolink:Disease mondo Orphanet:98716 ORPHA:98716 http://purl.obolibrary.org/obo/MONDO_0020284 ordo_group_of_disorders MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 biolink:Disease mondo OMIM:227220 Genetic Heterogeneity of Variation in Skin/Hair/Eye PigmentationnnMultiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501). http://identifiers.org/omim/227220 http://purl.obolibrary.org/obo/MONDO_0044255 eye color, blue/Nonblue|skin/hair/eye pigmentation 1, blue/Brown eyes|hair color 3|skin/hair/eye pigmentation 1, Blond/Brown hair|skin/hair/eye pigmentation, variation IN, 1; SHEP1|skin/hair/eye pigmentation 1, blue/Nonblue eyes|eye color 3|Brown eye color 2|eye color, Brown/blue|SHEP1 GO:0042362 fat-soluble vitamin biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. http://purl.obolibrary.org/obo/GO_0042362 fat-soluble vitamin biosynthesis|fat-soluble vitamin synthesis|fat-soluble vitamin formation|fat-soluble vitamin anabolism GO:0042368 vitamin D biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). http://purl.obolibrary.org/obo/GO_0042368 vitamin D anabolism|vitamin D synthesis|vitamin D formation|vitamin D biosynthesis|calciferol biosynthesis|calciferol biosynthetic process|cholecalciferol biosynthesis|cholecalciferol biosynthetic process|ergocalciferol biosynthetic process|ergocalciferol biosynthesis MONDO:0019298 obsolete rare urticaria biolink:Disease mondo Orphanet:79384 Rare urticaria. ORPHA:79384 http://purl.obolibrary.org/obo/MONDO_0019298 rare urticaria (disease)|rare urticaria|rare hives obsoletion_candidate|ordo_group_of_disorders MONDO:0019297 lymphedema biolink:Disease mondo MedDRA:10025282|ICD9:457.1|NCIT:C3207|COHD:435839|DOID:4977|Orphanet:79383|UMLS:C0024236|MESH:D008209|SCTID:234097001|GARD:0012563 Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. MEDDRA:10025282|NCIT:C3207|SNOMEDCT:234097001|MESH:D008209|UMLS:C0024236|DOID:4977|ORPHA:79383 http://purl.obolibrary.org/obo/MONDO_0019297 lymphoedema NOS|lymphatic edema|lymphatic edema (morphologic abnormality)|lymphoedema ordo_group_of_disorders CHEBI:5686 heterocyclic compound biolink:ChemicalSubstance mondo A cyclic compound having as ring members atoms of at least two different elements. http://purl.obolibrary.org/obo/CHEBI_5686 compuestos heterociclicos|Heterocyclic compound|heterocyclic compounds|heterocycle|compuesto heterociclico MONDO:0019299 unclassified genetic skin disorder biolink:Disease mondo Orphanet:79385|UMLS:CN205933 UMLS:CN205933|ORPHA:79385 http://purl.obolibrary.org/obo/MONDO_0019299 ordo_group_of_disorders MONDO:0019283 nail anomaly biolink:Disease mondo Orphanet:79368|MedDRA:10028684 A epidermal appendage anomaly that involves the nail. MEDDRA:10028684|UMLS:C0853087|ORPHA:79368 http://purl.obolibrary.org/obo/MONDO_0019283 nail epidermal appendage anomaly|epidermal appendage anomaly of nail ordo_group_of_disorders MONDO:0020272 connective tissue disease with eye involvement biolink:Disease mondo Orphanet:98702|UMLS:CN207077 ORPHA:98702|UMLS:CN207077 http://purl.obolibrary.org/obo/MONDO_0020272 ordo_group_of_disorders MONDO:0044261 obsolete menoq1 biolink:Disease mondo OMIM:300488 http://identifiers.org/omim/300488 http://purl.obolibrary.org/obo/MONDO_0044261 menopause, natural, AGE AT, quantitative trait locus 1; MENOQ1|MENOQ1 MONDO:0044260 obsolete ec1 biolink:Disease mondo HGNC:7832 http://purl.obolibrary.org/obo/MONDO_0044260 susceptibility to lysis by ALLOREACTIVE natural KILLER cells; EC1|EC1|natural Killer cell susceptibility 1 MONDO:0019282 syndromic hair shaft abnormality biolink:Disease mondo Orphanet:79367|UMLS:CN227611 UMLS:CN227611|ORPHA:79367 http://purl.obolibrary.org/obo/MONDO_0019282 ordo_group_of_disorders MONDO:0020271 phakomatosis with eye involvement biolink:Disease mondo Orphanet:98701 ORPHA:98701 http://purl.obolibrary.org/obo/MONDO_0020271 ordo_group_of_disorders MONDO:0019285 syndromic nail anomaly biolink:Disease mondo UMLS:CN227613|Orphanet:79370 A nail anomaly that is part of a larger syndrome. UMLS:CN227613|ORPHA:79370 http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly|syndrome associated with nail anomaly|syndrome associated with nail anomaly ordo_group_of_disorders MONDO:0044263 obsolete lutheran suppressor, x-linked biolink:Disease mondo HGNC:12837 An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420. http://purl.obolibrary.org/obo/MONDO_0044263 LuxS|Lutheran suppressor, X-linked; XS|XS MONDO:0020270 pigmentation disorder with eye involvement biolink:Disease mondo UMLS:CN227844|Orphanet:98700 UMLS:CN227844|ORPHA:98700 http://purl.obolibrary.org/obo/MONDO_0020270 ordo_group_of_disorders MONDO:0044262 obsolete cyanide, inability to smell biolink:Disease mondo OMIM:304300 http://identifiers.org/omim/304300 http://purl.obolibrary.org/obo/MONDO_0044262 cyanide, inability to smell MONDO:0019284 inherited isolated nail anomaly biolink:Disease mondo Orphanet:79369|OMIMPS:161050|DC:0000310 A nail anomaly that is not part of a larger syndrome. ORPHA:79369 http://purl.obolibrary.org/obo/MONDO_0019284 nonsyndromic nail anomaly|nail disorder, nonsyndromic congenital|isolated nail anomaly ordo_group_of_disorders MONDO:0019281 isolated genetic hair shaft abnormality biolink:Disease mondo Orphanet:79366 ORPHA:79366 http://purl.obolibrary.org/obo/MONDO_0019281 isolated hair shaft abnormality ordo_group_of_disorders MONDO:0019280 hypertrichosis (disease) biolink:Disease mondo SCTID:29966009|MedDRA:10020864|DOID:420|UMLS:C0020555|ICD10:L68.3|Orphanet:79365|ICD10:L68|HP:0000998|MESH:D006983|ICD10:L68.9 Excessive hair growth anywhere on the body. MESH:D006983|UMLS:C0020555|NCIT:C79597|SNOMEDCT:29966009|DOID:420|ORPHA:79365|MEDDRA:10020864 http://purl.obolibrary.org/obo/MONDO_0019280 hypertrichosis ordo_group_of_disorders MONDO:0044269 obsolete novelty seeking personality trait biolink:Disease mondo OMIM:601696 Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related. http://identifiers.org/omim/601696 http://purl.obolibrary.org/obo/MONDO_0044269 novelty seeking personality trait|risk-taking behavior MONDO:0044268 obsolete transsexuality biolink:Disease mondo OMIM:600952 http://identifiers.org/omim/600952 http://purl.obolibrary.org/obo/MONDO_0044268 TRANSSEXUALITY MONDO:0020279 metabolic disease with corneal opacity biolink:Disease mondo UMLS:CN207082|Orphanet:98711 UMLS:CN207082|ORPHA:98711 http://purl.obolibrary.org/obo/MONDO_0020279 ordo_group_of_disorders MONDO:0020278 metabolic disease associated with ocular features biolink:Disease mondo UMLS:CN207081|Orphanet:98710 UMLS:CN207081|ORPHA:98710 http://purl.obolibrary.org/obo/MONDO_0020278 ordo_group_of_disorders MONDO:0020277 ectodermal malformation syndrome associated with ocular features biolink:Disease mondo Orphanet:98709|UMLS:CN207080 UMLS:CN207080|ORPHA:98709 http://purl.obolibrary.org/obo/MONDO_0020277 ordo_group_of_disorders MONDO:0020276 pigmentation disorder with eye involvement, excluding albinism biolink:Disease mondo Orphanet:98708|UMLS:CN227845 UMLS:CN227845|ORPHA:98708 http://purl.obolibrary.org/obo/MONDO_0020276 ordo_group_of_disorders MONDO:0044265 obsolete tooth size biolink:Disease mondo OMIM:314240 http://identifiers.org/omim/314240 http://purl.obolibrary.org/obo/MONDO_0044265 tooth size MONDO:0044264 obsolete radial loop, plain, on right index finger biolink:Disease mondo OMIM:312200 http://identifiers.org/omim/312200 http://purl.obolibrary.org/obo/MONDO_0044264 radial loop, plain, ON right index finger MONDO:0020275 oculocutaneous or ocular albinism biolink:Disease mondo ICD10:E70.3|Orphanet:98706 Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism. ORPHA:98706 http://purl.obolibrary.org/obo/MONDO_0020275 ordo_group_of_disorders MONDO:0044267 obsolete gcy biolink:Disease mondo HGNC:4211 http://purl.obolibrary.org/obo/MONDO_0044267 growth control, Y-chromosome influenced; GCY|tooth size|stature|GCY MONDO:0020274 onycho-patellar syndrome with eye involvement biolink:Disease mondo Orphanet:98704|UMLS:CN207079 ORPHA:98704|UMLS:CN207079 http://purl.obolibrary.org/obo/MONDO_0020274 ordo_group_of_disorders MONDO:0044266 obsolete xm system biolink:Disease mondo HGNC:12813 {2,3:Berg and Bearn (1966, 1966)} discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage. http://purl.obolibrary.org/obo/MONDO_0044266 XM system MONDO:0020273 disease with potential neoplastic degeneration associated with ocular features biolink:Disease mondo Orphanet:98703|UMLS:CN207078 ORPHA:98703|UMLS:CN207078 http://purl.obolibrary.org/obo/MONDO_0020273 ordo_group_of_disorders MONDO:0019287 ectodermal dysplasia syndrome biolink:Disease mondo DOID:2121|UMLS:C0013575|SCTID:8654005|NCIT:C84683|OMIMPS:305100|MESH:D004476|Orphanet:79373|COHD:134757|MedDRA:10010452|GARD:0006317|ICD9:757.31 The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. ORPHA:79373|MESH:D004476|NCIT:C84683|MEDDRA:10010452|SNOMEDCT:8654005|UMLS:C0013575|DOID:2121 http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia (select examples)|ectodermal dysplasia|congenital ectodermal defect ordo_group_of_disorders|gard_rare MONDO:0019286 sebaceous gland anomaly biolink:Disease mondo Orphanet:79372 A epidermal appendage anomaly that involves the sebaceous gland. ORPHA:79372 http://purl.obolibrary.org/obo/MONDO_0019286 epidermal appendage anomaly of sebaceous gland|sebaceous gland epidermal appendage anomaly ordo_group_of_disorders MONDO:0019289 hyperpigmentation of the skin biolink:Disease mondo SCTID:49765009|ICD9:709.09|EFO:0009047|Orphanet:79375|COHD:4172432|HP:0000953 ORPHA:79375|SNOMEDCT:49765009 http://purl.obolibrary.org/obo/MONDO_0019289 ordo_group_of_disorders MONDO:0019288 skin pigmentation disease biolink:Disease mondo EFO:1000755|Orphanet:79374|ICD9:709.09|DOID:10123|MESH:D010859 A pigmentation disease that involves the zone of skin. ORPHA:79374|MESH:D010859|DOID:10123 http://purl.obolibrary.org/obo/MONDO_0019288 pigmentation disease|zone of skin pigmentation disease|pigmentation anomaly of the skin|pigmentation disease of zone of skin ordo_group_of_disorders MONDO:0019272 hereditary palmoplantar keratoderma biolink:Disease mondo Orphanet:79357|SCTID:239066003|ICD10:Q82.8|ICD9:757.39 An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome. SNOMEDCT:239066003|UMLS:C0406757|ORPHA:79357 http://purl.obolibrary.org/obo/MONDO_0019272 hereditary palmoplantar hyperkeratosis|hereditary keratosis palmoplantaris|hereditary PPK|hereditary palmoplantar keratosis ordo_group_of_disorders MONDO:0020261 obsolete neurological disease with abnormal eye movements biolink:Disease mondo Orphanet:98691 ORPHA:98691 http://purl.obolibrary.org/obo/MONDO_0020261 abnormal eye movements MONDO:0044272 obsolete body mass index quantitative trait locus 9 biolink:Disease mondo OMIM:602025 http://identifiers.org/omim/602025 http://purl.obolibrary.org/obo/MONDO_0044272 BMIQ9|obesity, susceptibility to|body MASS index quantitative trait locus 9; BMIQ9 MONDO:0044271 obsolete bone mineral density quantitative trait locus 1 biolink:Disease mondo OMIM:601884 http://identifiers.org/omim/601884 http://purl.obolibrary.org/obo/MONDO_0044271 osteoporosis, susceptibility to|high bone Mass|BMND1|bone mineral density quantitative trait locus 1; BMND1 MONDO:0019271 acrokeratoderma biolink:Disease mondo Orphanet:79356|ICD10:Q82.8 ORPHA:79356 http://purl.obolibrary.org/obo/MONDO_0019271 ordo_group_of_disorders MONDO:0020260 obsolete myasthenic syndrome with eye involvement biolink:Disease mondo UMLS:CN207074|Orphanet:98690 ORPHA:98690|UMLS:CN207074 http://purl.obolibrary.org/obo/MONDO_0020260 ordo_group_of_disorders MONDO:0019274 other epidermal disorder biolink:Disease mondo Orphanet:79359|UMLS:CN227609 ORPHA:79359|UMLS:CN227609 http://purl.obolibrary.org/obo/MONDO_0019274 obsoletion_candidate|ordo_group_of_disorders MONDO:0044274 obsolete hemoglobin, high altitude adaptation biolink:Disease mondo OMIM:609070 Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}). http://identifiers.org/omim/609070 http://purl.obolibrary.org/obo/MONDO_0044274 HALAH|Hemoglobin, high oxygen saturation of|HEMOGLOBIN, high altitude adaptation; HALAH MONDO:0044273 obsolete hypertension, diastolic, resistance to biolink:Disease mondo OMIM:608622 http://identifiers.org/omim/608622 http://purl.obolibrary.org/obo/MONDO_0044273 hypertension, diastolic, resistance to MONDO:0019273 obsolete porokeratosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019273 MONDO:0019270 erythrokeratoderma biolink:Disease mondo Orphanet:79355|MedDRA:10015280|ICD9:757.39|SCTID:254215005 MEDDRA:10015280|SNOMEDCT:254215005|UMLS:C0432330|ORPHA:79355 http://purl.obolibrary.org/obo/MONDO_0019270 ordo_group_of_disorders MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 biolink:Disease mondo OMIM:601816 http://identifiers.org/omim/601816 http://purl.obolibrary.org/obo/MONDO_0044270 BILIQTL1|bilirubin, serum level OF, quantitative trait locus 1; BILIQTL1 MONDO:0020269 syndromic ichthyosis associated with ocular features biolink:Disease mondo UMLS:CN227843|Orphanet:98699 A ichthyosis associated with ocular features that is part of a larger syndrome. UMLS:CN227843|ORPHA:98699 http://purl.obolibrary.org/obo/MONDO_0020269 syndromic ichthyosis associated with ocular features|syndrome associated with ichthyosis associated with ocular features|syndrome associated with ichthyosis associated with ocular features ordo_group_of_disorders MONDO:0044279 obsolete bone mineral density quantitative trait locus 15 biolink:Disease mondo OMIM:613418 http://identifiers.org/omim/613418 http://purl.obolibrary.org/obo/MONDO_0044279 bone mineral density quantitative trait locus 15; BMND15|compression fracture, susceptibility to|osteoporosis, susceptibility to|BMND15|metaphyseal fracture, susceptibility to MONDO:0020268 ichthyosis associated with ocular features biolink:Disease mondo Orphanet:98698 ORPHA:98698 http://purl.obolibrary.org/obo/MONDO_0020268 ordo_group_of_disorders MONDO:0007289 cataract 13 with adult I phenotype biolink:Disease mondo OMIM:116700|ICD10:Q12.0|DOID:0110242|UMLS:C3805373 A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. DOID:0110242|http://identifiers.org/omim/116700|UMLS:C3805373 http://purl.obolibrary.org/obo/MONDO_0007289 cataract 13 with adult I phenotype|cataract 13 with ADULT I phenotype; CTRCT13|CTRCT13 MONDO:0020267 genetic keratinization disorder associated with ocular features biolink:Disease mondo UMLS:CN227842|Orphanet:98697 UMLS:CN227842|ORPHA:98697 http://purl.obolibrary.org/obo/MONDO_0020267 ordo_group_of_disorders MONDO:0020266 genodermatosis with ocular features biolink:Disease mondo Orphanet:98696 ORPHA:98696 http://purl.obolibrary.org/obo/MONDO_0020266 ordo_group_of_disorders MONDO:0007287 cataract 41 biolink:Disease mondo OMIM:116400|ICD10:Q12.0|UMLS:C3805412|DOID:0110241 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene. DOID:0110241|http://identifiers.org/omim/116400|UMLS:C3805412 http://purl.obolibrary.org/obo/MONDO_0007287 cataract 41; CTRCT41|CTRCT41|congenital nuclear type cataract 41|cataract 41|WFS1 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in WFS1|cataract 41, congenital nuclear type|cataract type 41 MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 biolink:Disease mondo OMIM:612271 http://identifiers.org/omim/612271 http://purl.obolibrary.org/obo/MONDO_0044276 skin/hair/eye pigmentation, variation IN, 11; SHEP11|SHEP11|Melanesian blond hair|skin/hair/eye pigmentation 11, blue/Nonblue eyes MONDO:0020265 mitochondrial disease with eye involvement biolink:Disease mondo UMLS:CN207076|Orphanet:98695 UMLS:CN207076|ORPHA:98695 http://purl.obolibrary.org/obo/MONDO_0020265 ordo_group_of_disorders MONDO:0007288 cataract 6 multiple types biolink:Disease mondo DOID:0110229|GARD:0010234|OMIM:116600|ICD10:Q12.0 Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene. DOID:0110229|http://identifiers.org/omim/116600 http://purl.obolibrary.org/obo/MONDO_0007288 cataract, age-related cortical, 2|CTRCT6|cataract 6, multiple types|CTPA|cataract 6, multiple types; CTRCT6|CTPP|Posterior polar cataract, 1|age related cortical cataract 2|cataract (disease) caused by mutation in EPHA2|ARCC2|cataract, posterior polar, 1|CTPP1|EPHA2 cataract (disease)|posterior polar cataract 1 MONDO:0020264 spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly biolink:Disease mondo Orphanet:98694 ORPHA:98694 http://purl.obolibrary.org/obo/MONDO_0020264 ordo_group_of_disorders MONDO:0044275 obsolete carotid intimal medial thickness 1 biolink:Disease mondo OMIM:609338 http://identifiers.org/omim/609338 http://purl.obolibrary.org/obo/MONDO_0044275 Cimt1|intimal medial thickness of internal carotid artery|carotid intimal medial thickness 1 MONDO:0007285 cataract 1 multiple types biolink:Disease mondo OMIM:116200|ICD10:Q12.0|DOID:0110231|UMLS:C1861828|MESH:C566158 Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene. DOID:0110231|http://identifiers.org/omim/116200|MESH:C566158|UMLS:C1861828 http://purl.obolibrary.org/obo/MONDO_0007285 zonular pulverulent cataract 1|cataract, zonular pulverulent, 1|cataract 1, multiple types|CTRCT1|GJA8 cataract (disease)|cataract 1, multiple types; CTRCT1|cataract, Duffy-linked|CAE1|cataract 1, multiple types, with or without microcornea|CZP1|cataract (disease) caused by mutation in GJA8|Duffy linked cataract MONDO:0020263 spinocerebellar ataxia with oculomotor anomaly biolink:Disease mondo Orphanet:98693 ORPHA:98693 http://purl.obolibrary.org/obo/MONDO_0020263 ordo_group_of_disorders MONDO:0044278 obsolete short sleeper biolink:Disease mondo OMIMPS:612975 In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset. http://purl.obolibrary.org/obo/MONDO_0044278 short sleep phenotype|short sleeper MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 biolink:Disease mondo OMIM:612671 http://identifiers.org/omim/612671 http://purl.obolibrary.org/obo/MONDO_0044277 UAQTL4|uric acid concentration, serum, quantitative trait locus 4; UAQTL4|gout susceptibility 4 MONDO:0020262 nervous system anomaly with eye involvement biolink:Disease mondo Orphanet:98692 ORPHA:98692 http://purl.obolibrary.org/obo/MONDO_0020262 ordo_group_of_disorders MONDO:0007286 cataract 30 biolink:Disease mondo MESH:C566157|DOID:0110248|UMLS:C3805411|ICD10:Q12.0|OMIM:116300 A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13. DOID:0110248|http://identifiers.org/omim/116300|UMLS:C3805411|MESH:C566157 http://purl.obolibrary.org/obo/MONDO_0007286 cataract Coppock-like|cataract 30, pulverulent|cataract type 30|cataract 30 pulverulent|cataract 30|cataract 30, multiple types|dusty cataract|cataract 30, multiple types; CTRCT30|CTRCT30|cataract 30; CTRCT30 MONDO:0007283 cataract 42 biolink:Disease mondo DOID:0110237|UMLS:C4011454|OMIM:115900|ICD10:Q12.0 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene. UMLS:C4011454|http://identifiers.org/omim/115900|DOID:0110237 http://purl.obolibrary.org/obo/MONDO_0007283 early-onset non-syndromic cataract caused by mutation in CRYBA2|CTRCT42|cataract 42; CTRCT42|CRYBA2 early-onset non-syndromic cataract|cataract type 42|cataract 42|A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. MONDO:0007284 cataract 20 multiple types biolink:Disease mondo ICD10:Q12.0|OMIM:116100|DOID:0110240 Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene. DOID:0110240|http://identifiers.org/omim/116100 http://purl.obolibrary.org/obo/MONDO_0007284 CRYGS cataract (disease)|CTRCT20|cataract 20, multiple types; CTRCT20|cataract 20, multiple types|cataract (disease) caused by mutation in CRYGS HGNC:30185 CRBN biolink:OntologyClass mondo http://identifiers.org/hgnc/30185 MONDO:0007281 cataract 4 multiple types biolink:Disease mondo DOID:0110234|ICD10:Q12.0|OMIM:115700 Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene. http://identifiers.org/omim/115700|DOID:0110234 http://purl.obolibrary.org/obo/MONDO_0007281 CRYGD cataract (disease)|cataract, congenital, cerulean type, 3|cataract 4 multiple types with or without microcornea|cataract 4, multiple types|cataract, Nonnuclear polymorphic congenital|cataract, crystalline aculeiform|cataract, punctate, progressive juvenile-onset|CTRCT4|cataract 4, multiple types; CTRCT4|congenital cataract cerulean type 3|cataract 4, multiple types, with or without microcornea|CCA3|cataract (disease) caused by mutation in CRYGD HGNC:29186 ANKRD26 biolink:OntologyClass mondo http://identifiers.org/hgnc/29186 MONDO:0007282 cataract 29 biolink:Disease mondo UMLS:C3805409|ICD10:Q12.0|DOID:0110232|OMIM:115800 A cataract that has material basis in variation in the region 2pter-p24. http://identifiers.org/omim/115800|UMLS:C3805409|DOID:0110232 http://purl.obolibrary.org/obo/MONDO_0007282 cataract 29; CTRCT29|cataract type 29|CTRCT29|cataract 29, coralliform|cataract 29 coralliform|cataract 29 MONDO:0007280 cataract 8 multiple types biolink:Disease mondo UMLS:C1861833|OMIM:115665|MESH:C538285|Orphanet:98983|ICD10:Q12.0|GARD:0001146|DOID:0110228 A cataract that has material basis in variation in the region 1pter-p36.13. http://identifiers.org/omim/115665|MESH:C538285|UMLS:C1861833|ORPHA:98983|DOID:0110228 http://purl.obolibrary.org/obo/MONDO_0007280 CCV|cataract 8, multiple types|cataract congenital Volkmann type|cataract 8, multiple types; CTRCT8|CTRCT8|cataract, congenital, Volkmann type HGNC:29182 CEP164 biolink:OntologyClass mondo http://identifiers.org/hgnc/29182 MONDO:0020259 myopathy with eye involvement biolink:Disease mondo Orphanet:98689 ORPHA:98689 http://purl.obolibrary.org/obo/MONDO_0020259 ordo_group_of_disorders MONDO:0019279 obsolete alopecia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019279 MONDO:0019276 inherited epidermolysis bullosa biolink:Disease mondo ICD10:Q81.0|ICD10:Q81.2|ICD10:Q81.1|SCTID:402781004|ICD10:Q81.9|Orphanet:79361|ICD10:Q81.8|ICD9:757.39 Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. ORPHA:79361|UMLS:C1274224|SNOMEDCT:402781004 http://purl.obolibrary.org/obo/MONDO_0019276 epidermolysis bullosa hereditaria|hereditary epidermolysis bullosa ordo_group_of_disorders MONDO:0019275 other genetic epidermal disease biolink:Disease mondo UMLS:CN205922|Orphanet:79360 ORPHA:79360|UMLS:CN205922 http://purl.obolibrary.org/obo/MONDO_0019275 obsoletion_candidate|ordo_group_of_disorders MONDO:0019278 hair anomaly biolink:Disease mondo Orphanet:79363 ORPHA:79363 http://purl.obolibrary.org/obo/MONDO_0019278 ordo_group_of_disorders MONDO:0019277 epidermal appendage anomaly biolink:Disease mondo Orphanet:79362 ORPHA:79362 http://purl.obolibrary.org/obo/MONDO_0019277 ordo_group_of_disorders MONDO:0020250 autosomal dominant optic atrophy biolink:Disease mondo UMLS:C0338508|ICD10:H47.2|GARD:0011972|MESH:D029241|SCTID:2065009|NCIT:C84577|Orphanet:98672 An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. NCIT:C84577|ORPHA:98672|UMLS:C0338508|SNOMEDCT:2065009|MESH:D029241 http://purl.obolibrary.org/obo/MONDO_0020250 dominant optic atrophy|DOA|ADOA|optic atrophy, autosomal dominant ordo_group_of_disorders MONDO:0019261 infantile neuronal ceroid lipofuscinosis biolink:Disease mondo SCTID:58258004|ICD10:E75.4|Orphanet:79263 Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities. ORPHA:79263|SNOMEDCT:58258004|UMLS:C2931673|UMLS:C0268281|MESH:C537948 http://purl.obolibrary.org/obo/MONDO_0019261 Santavuori disease|infantile NCL|Hagberg-Santavuori disease|INCL|Santavuori-Haltia disease ordo_disease MONDO:0044283 obsolete body mass index quantitative trait locus 18 biolink:Disease mondo OMIM:615457 http://identifiers.org/omim/615457 http://purl.obolibrary.org/obo/MONDO_0044283 obesity, susceptibility to|BMIQ18|body MASS index quantitative trait locus 18; BMIQ18 MONDO:0019260 adult neuronal ceroid lipofuscinosis biolink:Disease mondo SCTID:62009002|UMLS:C0022797|ICD10:E75.4|Orphanet:79262|GARD:0010973|UMLS:CN205864 Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. ORPHA:79262|UMLS:C0022797|UMLS:C2931675|UMLS:CN205864|SNOMEDCT:62009002|MESH:C537950 http://purl.obolibrary.org/obo/MONDO_0019260 CLN4 disease, adult autosomal dominant|Kufs disease|neuronal ceroid lipofuscinosis 4|adult NCL|ANCL|Kuf's disease|neuronal ceroid lipofuscinosis of adults gard_rare|ordo_disease MONDO:0044282 obsolete blood group, vel system biolink:Disease mondo OMIM:615264 The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}). http://identifiers.org/omim/615264 http://purl.obolibrary.org/obo/MONDO_0044282 Vel-null phenotype|blood group, VEL system; VEL|VEL MONDO:0019263 autosomal erythropoietic protoporphyria biolink:Disease mondo ICD10:E80.0|Orphanet:79278|MedDRA:10015289 Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. ORPHA:79278|MEDDRA:10015289|UMLS:C0162568 http://purl.obolibrary.org/obo/MONDO_0019263 EPP ordo_disease GO:0042391 regulation of membrane potential biolink:OntologyClass mondo Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. http://purl.obolibrary.org/obo/GO_0042391 MONDO:0019262 juvenile neuronal ceroid lipofuscinosis biolink:Disease mondo SCTID:61663001|DOID:0050756|Orphanet:79264|ICD10:E75.4|MedDRA:10052073 Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. DOID:0050756|ORPHA:79264|SNOMEDCT:61663001|MEDDRA:10052073 http://purl.obolibrary.org/obo/MONDO_0019262 juvenile neuronal ceroid lipofuscinosis|juvenile NCL|Spielmeyer-Vogt disease|batten disease|JNCL ordo_disease RO:0002380 branching part of biolink:OntologyClass mondo x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y http://purl.obolibrary.org/obo/RO_0002380 MONDO:0044284 obsolete blood group, gerbich system biolink:Disease mondo OMIM:616089 The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}). http://identifiers.org/omim/616089 http://purl.obolibrary.org/obo/MONDO_0044284 blood group, Gerbich system; GE|Gerbich blood Group system|GE MONDO:0044281 obsolete c3hex, ability to smell biolink:Disease mondo OMIM:615082 Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}). http://identifiers.org/omim/615082 http://purl.obolibrary.org/obo/MONDO_0044281 C3HEX, ability to smell MONDO:0044280 obsolete glycerol quantitative trait locus biolink:Disease mondo OMIM:614411 http://identifiers.org/omim/614411 http://purl.obolibrary.org/obo/MONDO_0044280 Glycerol release during exercise, defective|GLYCEROL quantitative trait locus; GLYCQTL|GLYCQTL|body Mass index quantitative trait locus 17 GO:0042398 cellular modified amino acid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of compounds derived from amino acids, organic acids containing one or more amino substituents. http://purl.obolibrary.org/obo/GO_0042398 cellular modified amino acid anabolism|cellular amino acid derivative synthesis|amino acid derivative biosynthetic process|cellular modified amino acid synthesis|cellular amino acid derivative formation|cellular modified amino acid formation|cellular modified amino acid biosynthesis|cellular amino acid derivative biosynthetic process|cellular amino acid derivative biosynthesis|cellular amino acid derivative anabolism RO:0002385 has potential to developmentally contribute to biolink:OntologyClass mondo x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y http://purl.obolibrary.org/obo/RO_0002385 MONDO:0020258 oculomotor apraxia or related oculomotor disease biolink:Disease mondo UMLS:CN207073|Orphanet:98688 UMLS:CN207073|ORPHA:98688 http://purl.obolibrary.org/obo/MONDO_0020258 ordo_group_of_disorders MONDO:0020257 supranuclear oculomotor palsy biolink:Disease mondo GARD:0008403|Orphanet:98687 Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. ORPHA:98687 http://purl.obolibrary.org/obo/MONDO_0020257 conjugate gaze palsy|supranuclear disorder of eye movement|gaze palsy|supranuclear ocular palsy gard_rare|ordo_group_of_disorders RO:0002386 has potential to developmentally induce biolink:OntologyClass mondo x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y http://purl.obolibrary.org/obo/RO_0002386 RO:0002387 has potential to develop into biolink:OntologyClass mondo x has the potential to develop into y iff x develops into y or if x is capable of developing into y http://purl.obolibrary.org/obo/RO_0002387 MONDO:0020256 congenital trochlear nerve palsy biolink:Disease mondo ICD10:H49.1|Orphanet:98686 ORPHA:98686 http://purl.obolibrary.org/obo/MONDO_0020256 congenital fourth cranial nerve palsy|congenital CNIV palsy|congenital superior oblique palsy ordo_disease RO:0002388 has potential to directly develop into biolink:OntologyClass mondo x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y http://purl.obolibrary.org/obo/RO_0002388 MONDO:0020255 obsolete oculomotor palsy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020255 MONDO:0020254 craniostenosis associated with a strabismus biolink:Disease mondo Orphanet:98684 ORPHA:98684 http://purl.obolibrary.org/obo/MONDO_0020254 ordo_group_of_disorders MONDO:0007298 spinocerebellar ataxia type 29 biolink:Disease mondo Orphanet:208513|SCTID:715825009|OMIM:117360|DOID:0050978|GARD:0010480|UMLS:C1861732|ICD10:G11.0|MESH:C537206|UMLS:C4274987 Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. DOID:0050978|http://identifiers.org/omim/117360|SNOMEDCT:715825009|MESH:C537206|UMLS:C4274987|UMLS:C1861732|ORPHA:208513 http://purl.obolibrary.org/obo/MONDO_0007298 cerebellar ataxia early-onset nonprogressive|aplasia of cerebellar vermis|SCA29|ACV|spinocerebellar ataxia 29; SCA29|spinocerebellar ataxia 29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|congenital nonprogressive spinocerebellar ataxia|spinocerebellar ataxia type 29|cerebellar vermis aplasia ordo_disease MONDO:0020253 syndrome with a symptomatic strabismus biolink:Disease mondo Orphanet:98683|UMLS:CN207072 UMLS:CN207072|ORPHA:98683 http://purl.obolibrary.org/obo/MONDO_0020253 ordo_group_of_disorders MONDO:0007299 Sotos syndrome 1 biolink:Disease mondo SCTID:75968004|OMIM:117550|UMLS:CN035106 Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene. http://identifiers.org/omim/117550|UMLS:CN035106|SNOMEDCT:75968004 http://purl.obolibrary.org/obo/MONDO_0007299 cerebral gigantism|Sotos syndrome 1; SOTOS1|Sotos syndrome type 1|SOTOS1|chromosome 5Q35 deletion syndrome|Sotos syndrome caused by mutation in NSD1|Sotos syndrome|Sotos syndrome 1|NSD1 Sotos syndrome MONDO:0007296 spinocerebellar ataxia type 31 biolink:Disease mondo ICD10:G11.8|DOID:0050980|GARD:0009975|Orphanet:217012|SCTID:715826005|OMIM:117210|UMLS:C1861736|UMLS:C4274986|MESH:C566146 Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. http://identifiers.org/omim/117210|ORPHA:217012|SNOMEDCT:715826005|MESH:C566146|UMLS:C4274986|UMLS:C1861736|DOID:0050980 http://purl.obolibrary.org/obo/MONDO_0007296 spinocerebellar ataxia 16q22-linked|SCA31|spinocerebellar ataxia 31|spinocerebellar ataxia, 16Q22-linked|spinocerebellar ataxia type 31|spinocerebellar ataxia 31; SCA31 ordo_disease MONDO:0020252 essential strabismus biolink:Disease mondo Orphanet:98682 ORPHA:98682 http://purl.obolibrary.org/obo/MONDO_0020252 ordo_disease RO:0002384 has developmental potential involving biolink:OntologyClass mondo x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). http://purl.obolibrary.org/obo/RO_0002384 MONDO:0007297 ADan amyloidosis biolink:Disease mondo Orphanet:97346|DOID:0070030|ICD10:E85.4+|GARD:0009169|MESH:C538209|ICD10:I68.0*|UMLS:C1861735|OMIM:117300 A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. http://identifiers.org/omim/117300|DOID:0070030|MESH:C538209|UMLS:C1861735|ORPHA:97346 http://purl.obolibrary.org/obo/MONDO_0007297 dementia, familial Danish|ITM2B-related cerebral amyloid angiopathy 2|cerebellar ataxia, cataract, deafness, and dementia or psychosis|HOOE|Heredopathia Ophthalmootoencephalica|cerebral amyloid angiopathy, ITM2B-RELATED, 2|cerebral amyloid angiopathy, ITM2B-related, type 2|cerebellar ataxia, cataract, deafness, and dementia Or psychosis|FDD|familial Danish dementia|familial dementia, Danish type ordo_clinical_subtype MONDO:0020251 rare strabismus and restriction syndrome biolink:Disease mondo Orphanet:98681|UMLS:CN207070 ORPHA:98681|UMLS:CN207070 http://purl.obolibrary.org/obo/MONDO_0020251 obsoletion_candidate|ordo_group_of_disorders MONDO:0007294 central core myopathy biolink:Disease mondo UMLS:C0751951|OMIM:117000|Orphanet:597|EFO:1000855|GARD:0006014|DOID:3529|SCTID:43152001|ICD10:G71.2|NCIT:C83010|MESH:D020512 An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation. UMLS:C0751951|NCIT:C83010|MESH:D020512|SNOMEDCT:43152001|ORPHA:597|DOID:3529|http://identifiers.org/omim/117000 http://purl.obolibrary.org/obo/MONDO_0007294 multicore myopathy, moderate, with hand involvement|central core disease|Cco|central CORE disease of muscle; CCD|minicore myopathy, moderate, with hand involvement|multiminicore disease, moderate, with hand involvement|muscle core disease|central CORE disease of muscle|CCD|neuromuscular disease, congenital, with uniform type 1 Fiber|myopathy, central fibrillar|Shy-Magee syndrome|muscular central core disease|myopathy, central core ordo_disease MONDO:0007295 rolandic epilepsy biolink:Disease mondo ICD9:345.80|SCTID:44145005|NCIT:C116538|DOID:3329|Orphanet:1945|UMLS:C0376532|OMIM:117100|UMLS:C2363129|UMLS:CN200685|ICD10:G40.0|GARD:0010287 Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome. http://identifiers.org/omim/117100|SNOMEDCT:44145005|UMLS:C0376532|UMLS:C2363129|NCIT:C116538|UMLS:CN200685|ORPHA:1945|DOID:3329 http://purl.obolibrary.org/obo/MONDO_0007295 temporal-central focal epilepsy|BRE|centrotemporal epilepsy|sylvan seizures|benign rolandic epilepsy|BECRS|benign rolandic epilepsy (BRE)|benign Rolandic epilepsy|BECTS|rolandic epilepsy|benign epilepsy with centrotemporal spikes|benign epilepsy with centro-temporal spikes (BECTS)|CENTRALOPATHIC epilepsy|benign childhood epilepsy with centrotemporal spike|benign epilepsy of childhood with centrotemporal spikes (BECCT)|benign rolandic epilepsy of childhood (BREC)|BCECTS|benign childhood epilepsy with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes|benign epilepsy of childhood with centrotemporal spikes gard_rare|ordo_disease MONDO:0007292 celiac artery stenosis from compression by median arcuate ligament of diaphragm biolink:Disease mondo UMLS:C1861783|MESH:C566151|OMIM:116870 http://identifiers.org/omim/116870|MESH:C566151|UMLS:C1861783 http://purl.obolibrary.org/obo/MONDO_0007292 celiac artery stenosis from compression by median arcuate ligament of diaphragm HGNC:30171 HSPB8 biolink:OntologyClass mondo http://identifiers.org/hgnc/30171 MONDO:0007293 leukocyte adhesion deficiency 1 biolink:Disease mondo SCTID:234582006|OMIM:116920|NCIT:C4689|Orphanet:99842|UMLS:C0398738|MESH:C535887|GARD:0006893|ICD10:D84.8|DOID:0110910 Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections. MESH:C535887|DOID:0110910|http://identifiers.org/omim/116920|NCIT:C4689|ORPHA:99842|UMLS:C0398738|SNOMEDCT:234582006 http://purl.obolibrary.org/obo/MONDO_0007293 lad-I|LFA1 immunodeficiency|lad-type I|Lad1|leukocyte adhesion deficiency type I|leukocyte adhesion deficiency type 1|lymphocyte function-associated antigen 1 immunodeficiency|ITGB2 leukocyte adhesion deficiency|Lfa1 immunodeficiency|LAD1|leukocyte adhesion deficiency, type I|leukocyte adhesion deficiency caused by mutation in ITGB2|lad 1|leukocyte adhesion deficiency, type 1|LFA 1 immunodeficiency|lad|LFA-I deficiency|leukocyte adhesion deficiency, type I; lad ordo_clinical_subtype HGNC:30172 STRADA biolink:OntologyClass mondo http://identifiers.org/hgnc/30172 MONDO:0007290 cataract 5 multiple types biolink:Disease mondo MESH:C535342|DOID:0110255|ICD10:Q12.0|OMIM:116800 Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene. http://identifiers.org/omim/116800|MESH:C535342|DOID:0110255 http://purl.obolibrary.org/obo/MONDO_0007290 cataract 5, multiple types|HSF4 cataract (disease)|CTRCT5|cataract 5, multiple types; CTRCT5|cataract (disease) caused by mutation in HSF4|cataract, Marner type|cataract, lamellar MONDO:0007291 familial cerebral cavernous malformation biolink:Disease mondo SCTID:717003001|ICD10:Q28.3|Orphanet:221061|UMLS:C2931263 Familial cerebral cavernous malformation (FCCM) is a rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. ORPHA:221061|UMLS:C2931263|SNOMEDCT:717003001 http://purl.obolibrary.org/obo/MONDO_0007291 hereditary brain cavernous hemangioma|hereditary cerebral cavernoma|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cerebral capillary malformations|cavernous angioma, familial|cavernous angiomatous malformations|cerebral cavernous malformations; CCM|CCM|familial brain cavernous angioma|cerebral cavernous malformations|familial brain cavernous hemangioma|familial cerebral cavernoma|hereditary cerebral cavernous malformation|cavernous malformations of CNS and retina|hereditary brain cavernous angioma ordo_malformation_syndrome RO:0002379 spatially coextensive with biolink:OntologyClass mondo x spatially_coextensive_with y if and inly if x and y have the same location http://purl.obolibrary.org/obo/RO_0002379 MONDO:0020249 hereditary optic neuropathy biolink:Disease mondo MedDRA:10061323|Orphanet:98671 MEDDRA:10061323|ORPHA:98671 http://purl.obolibrary.org/obo/MONDO_0020249 ordo_group_of_disorders MONDO:0020248 vitreoretinal degeneration biolink:Disease mondo ICD10:H35.5|UMLS:C0344290|Orphanet:98670|GARD:0005506|HP:0007964|SCTID:247182006 UMLS:C0344290|SNOMEDCT:247182006|ORPHA:98670 http://purl.obolibrary.org/obo/MONDO_0020248 degenerative vitreoretinopathy gard_rare|ordo_group_of_disorders MONDO:0019269 ichthyosis (disease) biolink:Disease mondo MedDRA:10021198|DOID:1697|HP:0008064|Orphanet:79354|UMLS:C0020757|NCIT:C84776|MESH:D007057 Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. MESH:D007057|MEDDRA:10021198|ORPHA:79354|DOID:1697|NCIT:C84776|UMLS:C0020758|UMLS:C0020757 http://purl.obolibrary.org/obo/MONDO_0019269 fish scale disease|ichthyosis|non-syndromic ichthyosis|ichthyoses|fish skin disease ordo_group_of_disorders GO:0030343 vitamin D3 25-hydroxylase activity biolink:OntologyClass mondo Catalysis of the reaction: vitamin D3 + NADPH + H+ + O2 = calcidiol + NADP+ + H2O. http://purl.obolibrary.org/obo/GO_0030343 cholecalciferol 25-hydroxylase activity MONDO:0019268 epidermal disease biolink:Disease mondo UMLS:CN205920|Orphanet:79353 A skin disease that involves the epidermis. ORPHA:79353|UMLS:CN205920 http://purl.obolibrary.org/obo/MONDO_0019268 rare epidermal disease|epidermal disease ordo_group_of_disorders MONDO:0019265 diazoxide-resistant focal hyperinsulinism biolink:Disease mondo ICD10:E16.1|Orphanet:79298 Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion. ORPHA:79298 http://purl.obolibrary.org/obo/MONDO_0019265 hyperinsulinemic hypoglycemia, diazoxide-resistant focal form ordo_group_of_disorders MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 biolink:Disease mondo ICD10:E77.1|UMLS:C1836545|Orphanet:79281 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. ORPHA:79281|UMLS:C1836545 http://purl.obolibrary.org/obo/MONDO_0019264 NAGA deficiency type 3|Schindler disease type 3 ordo_clinical_subtype MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- biolink:Disease mondo SCTID:237946002|UMLS:CN205894|ICD10:E71.1|Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. SNOMEDCT:237946002|ORPHA:79312|UMLS:CN205894 http://purl.obolibrary.org/obo/MONDO_0019267 partial deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut- ordo_clinical_subtype MONDO:0019266 SAPHO syndrome biolink:Disease mondo MedDRA:10051316|ICD9:706.1|EFO:1001164|DOID:13677|SCTID:60684003|Orphanet:793|NCIT:C119049|UMLS:C0263859|MESH:D020083|ICD10:M86.3|GARD:0007606 SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis. MEDDRA:10051316|ORPHA:793|DOID:13677|UMLS:C0263859|MESH:D020083|NCIT:C119049|SNOMEDCT:60684003 http://purl.obolibrary.org/obo/MONDO_0019266 PPHS|Pustulo-psoriatic hyperostotic Spondyloarthritis|synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome|synovitis-acne-pustulosis-hyperostosis-osteitis syndrome|synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis|synovitis acne pustulosis hyperostosis osteitis|acquired hyperostosis syndrome|synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome gard_rare|ordo_disease CHEBI:149689 D-dopa zwitterion biolink:ChemicalSubstance mondo An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of D-dopa. Major microspecies at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_149689 (2R)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate|(2R)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate|D-dopa HGNC:17185 ASB10 biolink:OntologyClass mondo http://identifiers.org/hgnc/17185 GO:0030336 negative regulation of cell migration biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/GO_0030336 downregulation of cell migration|down regulation of cell migration|inhibition of cell migration|down-regulation of cell migration GO:0030334 regulation of cell migration biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/GO_0030334 GO:0032997 Fc receptor complex biolink:OntologyClass mondo A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin. http://purl.obolibrary.org/obo/GO_0032997 immunoglobulin receptor complex|Fc-receptor complex|FcR complex GO:0030335 positive regulation of cell migration biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/GO_0030335 activation of cell migration|upregulation of cell migration|up regulation of cell migration|stimulation of cell migration|up-regulation of cell migration RO:0002374 has_fused_element biolink:OntologyClass mondo x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat http://purl.obolibrary.org/obo/RO_0002374 has fused element MONDO:0044214 obsolete androstenone, ability to smell biolink:Disease mondo OMIM:105570 http://identifiers.org/omim/105570 http://purl.obolibrary.org/obo/MONDO_0044214 ANDROSTENONE, ability to smell MONDO:0044213 acute idiopathic urticaria biolink:Disease mondo UMLS:C0578869|SCTID:302161006 Acute form of idiopathic urticaria. UMLS:C0578869|SNOMEDCT:302161006 http://purl.obolibrary.org/obo/MONDO_0044213 idiopathic urticaria, acute|acute idiopathic urticaria RO:0002375 in branching relationship with biolink:OntologyClass mondo A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. http://purl.obolibrary.org/obo/RO_0002375 MONDO:0044216 obsolete artichoke, modification of taste by biolink:Disease mondo OMIM:108320 http://identifiers.org/omim/108320 http://purl.obolibrary.org/obo/MONDO_0044216 artichoke, modification of taste by RO:0002376 tributary of biolink:OntologyClass mondo x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. http://purl.obolibrary.org/obo/RO_0002376 drains into MONDO:0044215 obsolete arm folding preference biolink:Disease mondo OMIM:107850 http://identifiers.org/omim/107850 http://purl.obolibrary.org/obo/MONDO_0044215 ARM folding preference MONDO:0044210 thalassemia minor biolink:Disease mondo SCTID:19442009|ICD10:D56.3|MedDRA:10054662|SCDO:0000114 The inheritance of only one mutated beta-globin allele (beta+ or beta0). SNOMEDCT:19442009|MEDDRA:10054662 http://purl.obolibrary.org/obo/MONDO_0044210 beta thalassemia trait RO:0002371 attached to biolink:OntologyClass mondo a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a http://purl.obolibrary.org/obo/RO_0002371 MONDO:0044212 chronic idiopathic urticaria biolink:Disease mondo SCTID:302162004|UMLS:C0578870 Chronic form of idiopathic urticaria. SNOMEDCT:302162004|UMLS:C0578870 http://purl.obolibrary.org/obo/MONDO_0044212 idiopathic urticaria, chronic|chronic idiopathic urticaria RO:0002372 has_muscle_origin biolink:OntologyClass mondo m has_muscle_origin s iff m is attaches_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to. http://purl.obolibrary.org/obo/RO_0002372 HGNC:29168 RPGRIP1L biolink:OntologyClass mondo http://identifiers.org/hgnc/29168 MONDO:0044211 idiopathic urticaria biolink:Disease mondo SCTID:42265009|ICD9:708.1|ICD10:L50.1|UMLS:C0157741 UMLS:C0157741|SNOMEDCT:42265009 http://purl.obolibrary.org/obo/MONDO_0044211 idiopathic angioedema-urticaria PATO:0002505 nucleated biolink:OntologyClass mondo A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. http://purl.obolibrary.org/obo/PATO_0002505 RO:0002373 has_muscle_insertion biolink:OntologyClass mondo m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone. http://purl.obolibrary.org/obo/RO_0002373 MONDO:0044207 specific granule deficiency 1 biolink:Disease mondo OMIM:245480 Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene. http://identifiers.org/omim/245480 http://purl.obolibrary.org/obo/MONDO_0044207 specific granule deficiency caused by mutation in CEBPE|neutrophil lactoferrin deficiency|SGD1|specific granule deficiency 1; SGD1|CEBPE specific granule deficiency|lactoferrin-deficient neutrophils NCBITaxon:1437183 Mesangiospermae organism taxon mondo GC_ID:1|PMID:25249442 http://purl.obolibrary.org/obo/NCBITaxon_1437183 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive biolink:Disease mondo OMIM:215150 http://identifiers.org/omim/215150 http://purl.obolibrary.org/obo/MONDO_0044206 Nance-Insley syndrome|OSMEDB|OSMED|chondrodystrophy with sensorineural deafness|Nance-Sweeney chondrodysplasia|otospondylomegaepiphyseal dysplasia, autosomal recessive; OSMEDB|Weissenbacher-Zweymuller syndrome, formerly|Weissenbacher-Zweymuller syndrome MONDO:0044209 disorder of lectin complement activation pathway biolink:Disease mondo OMIMPS:614372 A disease that has its basis in the disruption of complement activation, lectin pathway. http://purl.obolibrary.org/obo/MONDO_0044209 disorder of complement activation, lectin pathway|complement activation, lectin pathway disease|disorder of complement activation, lectin pathway HGNC:29160 FASTKD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29160 MONDO:0044208 specific granule deficiency 2 biolink:Disease mondo UMLS:C4479548|OMIM:617475 Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480). http://identifiers.org/omim/617475|UMLS:C4479548 http://purl.obolibrary.org/obo/MONDO_0044208 specific granule deficiency 2; SGD2|SGD2 GO:0032991 protein-containing complex biolink:OntologyClass mondo A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. http://purl.obolibrary.org/obo/GO_0032991 protein-protein complex|protein containing complex|protein complex|macromolecular complex|macromolecule complex GO:0032990 cell part morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of a cell part are generated and organized. http://purl.obolibrary.org/obo/GO_0032990 HGNC:17194 NDUFA13 biolink:OntologyClass mondo http://identifiers.org/hgnc/17194 GO:0032989 cellular component morphogenesis biolink:OntologyClass mondo The process in which cellular structures, including whole cells or cell parts, are generated and organized. http://purl.obolibrary.org/obo/GO_0032989 cellular structure morphogenesis GO:0032987 protein-lipid complex disassembly biolink:OntologyClass mondo The disaggregation of a protein-lipid complex into its constituent components. http://purl.obolibrary.org/obo/GO_0032987 HGNC:17192 TIRAP biolink:OntologyClass mondo http://identifiers.org/hgnc/17192 MONDO:0044225 obsolete creatine kinase, brain type, ectopic expression of biolink:Disease mondo HGNC:1992 http://purl.obolibrary.org/obo/MONDO_0044225 creatine KINASE, brain type, ectopic expression OF; CKBE|CKBE MONDO:0044224 obsolete apocrine gland secretion, variation 1n biolink:Disease mondo OMIM:117800 http://identifiers.org/omim/117800 http://purl.obolibrary.org/obo/MONDO_0044224 wet wax|apocrine gland secretion, variation IN|axillary odor, variation 1N|colostrum secretion, variation 1N|cerumen, variation 1N|Ear wax, wet/dry MONDO:0044227 obsolete dimples, facial biolink:Disease mondo OMIM:126100 http://identifiers.org/omim/126100 http://purl.obolibrary.org/obo/MONDO_0044227 dimples, FACIAL|cheek dimples|smiling dimples MONDO:0044226 obsolete defective interfering particle induction, control of biolink:Disease mondo HGNC:12678 http://purl.obolibrary.org/obo/MONDO_0044226 Dipi, control of|vesicular stomatitis Virus defective interfering particle repressor|homologous viral interference|defective interfering particle induction, control OF MONDO:0044221 obsolete blood group--lutheran inhibitor biolink:Disease mondo OMIM:111150 http://identifiers.org/omim/111150 http://purl.obolibrary.org/obo/MONDO_0044221 blood group--Lutheran INHIBITOR; INLU|INLU|dominant 50U (A-B-) phenotype MONDO:0044220 obsolete blood group, 1 system biolink:Disease mondo OMIM:110800 http://identifiers.org/omim/110800 http://purl.obolibrary.org/obo/MONDO_0044220 adult I phenotype|blood group, I system; II|II|II blood Group system|I blood Group system NCBITaxon:766764 Debaryomycetaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_766764 MONDO:0044223 obsolete radin blood group antigen biolink:Disease mondo OMIM:111620 http://identifiers.org/omim/111620 http://purl.obolibrary.org/obo/MONDO_0044223 RADIN blood group antigen; RD|blood Group--Radin antigen|RD GO:0005381 iron ion transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of iron (Fe) ions from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0005381 iron channel activity|iron cation channel activity|iron transporter activity|transmembrane iron permease activity|zinc, iron permease activity|multicopper ferroxidase iron transport mediator activity|transmembrane iron ion permease activity MONDO:0044222 obsolete blood group, p1pk system biolink:Disease mondo OMIM:111400 http://identifiers.org/omim/111400 http://purl.obolibrary.org/obo/MONDO_0044222 P(1) phenotype|P phenotype|P(2) phenotype|Nor Polyagglutination syndrome|blood group, P1PK system|P1(K) phenotype|P2(K) phenotype HGNC:29174 WASHC4 biolink:OntologyClass mondo http://identifiers.org/hgnc/29174 MONDO:0044218 obsolete beeturia biolink:Disease mondo OMIM:109600 http://identifiers.org/omim/109600 http://purl.obolibrary.org/obo/MONDO_0044218 Betacyaninuria|BEETURIA HP:0002503 Spinocerebellar tract degeneration biolink:PhenotypicFeature mondo UMLS:C1866751 http://purl.obolibrary.org/obo/HP_0002503 Degeneration of the spinocerebellar tracts|Spinocerebellar degeneration MONDO:0044217 obsolete asparagus, specific smell hypersensitivity biolink:Disease mondo OMIM:108390 http://identifiers.org/omim/108390 http://purl.obolibrary.org/obo/MONDO_0044217 asparagus, specific smell hypersensitivity HGNC:29170 FAN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29170 HP:0002500 Abnormality of the cerebral white matter biolink:PhenotypicFeature mondo UMLS:C0948163|UMLS:C4020851|MSH:D049292 An abnormality of the cerebral white matter. http://purl.obolibrary.org/obo/HP_0002500 Cortical white matter abnormalities seen on MRI|Cerebral white matter abnormalities|White matter abnormalities|White matter alterations|Abnormality of subcortical white matter|Leukoaraiosis MONDO:0044219 obsolete blood group, duffy system biolink:Disease mondo OMIM:110700 The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}). http://identifiers.org/omim/110700 http://purl.obolibrary.org/obo/MONDO_0044219 Duffy blood Group system|blood group, DUFFY system; FY|FY|Plasmodium vivax, resistance to NCBITaxon:1437197 Petrosaviidae organism taxon mondo GC_ID:1|PMID:26350789 http://purl.obolibrary.org/obo/NCBITaxon_1437197 GO:0032984 protein-containing complex disassembly biolink:OntologyClass mondo The disaggregation of a protein-containing macromolecular complex into its constituent components. http://purl.obolibrary.org/obo/GO_0032984 macromolecule complex disassembly|cellular macromolecule complex disassembly|protein complex disassembly HGNC:17198 CHSY1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17198 GO:0030316 osteoclast differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. http://purl.obolibrary.org/obo/GO_0030316 osteoclast cell differentiation MONDO:0044230 obsolete epiblepharon of upper 51d biolink:Disease mondo OMIM:131460 http://identifiers.org/omim/131460 http://purl.obolibrary.org/obo/MONDO_0044230 epiblepharon of upper lid GO:0030317 flagellated sperm motility biolink:OntologyClass mondo The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. http://purl.obolibrary.org/obo/GO_0030317 sperm flagellum movement involved in flagellated sperm movement|sperm flagellum movement involved in flagellated sperm motility|flagellated sperm movement|sperm movement|sperm flagellum movement|sperm motility MONDO:0044236 obsolete hepatitis b vaccine, response to biolink:Disease mondo OMIM:142395 More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}). http://identifiers.org/omim/142395 http://purl.obolibrary.org/obo/MONDO_0044236 HBV vaccine, response to|HEPATITIS B vaccine, response to RO:0002352 input of biolink:OntologyClass mondo inverse of has input http://purl.obolibrary.org/obo/RO_0002352 MONDO:0044235 obsolete hsr biolink:Disease mondo OMIM:139900 http://identifiers.org/omim/139900 http://purl.obolibrary.org/obo/MONDO_0044235 handedness|HSR|hand skill, relative; HSR RO:0002353 output of biolink:OntologyClass mondo inverse of has output http://purl.obolibrary.org/obo/RO_0002353 GO:0005355 glucose transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of the hexose monosaccharide glucose from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0005355 galactose/glucose (methylgalactoside) porter activity|glucose permease activity|lactose/glucose efflux transporter activity MONDO:0044238 obsolete lunulae of fingernails biolink:Disease mondo OMIM:152600 http://identifiers.org/omim/152600 http://purl.obolibrary.org/obo/MONDO_0044238 lunulae of fingernails RO:0002354 formed as result of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002354 MONDO:0044237 obsolete hypercholesterolemia suppressor biolink:Disease mondo OMIM:144020 http://identifiers.org/omim/144020 http://purl.obolibrary.org/obo/MONDO_0044237 hypercholesterolemia suppressor HGNC:29144 EHBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29144 MONDO:0044232 obsolete fingers, relative length of biolink:Disease mondo OMIM:136100 http://identifiers.org/omim/136100 http://purl.obolibrary.org/obo/MONDO_0044232 2D:4D finger-length ratio|fingers, relative length OF MONDO:0044231 obsolete eyebrow, whorl 1n biolink:Disease mondo OMIM:133800 http://identifiers.org/omim/133800 http://purl.obolibrary.org/obo/MONDO_0044231 eyebrow, whorl in RO:0002350 member of biolink:OntologyClass mondo is member of is a mereological relation between a item and a collection. http://purl.obolibrary.org/obo/RO_0002350 MONDO:0044234 obsolete hrm2 biolink:Disease mondo OMIM:139450 http://identifiers.org/omim/139450 http://purl.obolibrary.org/obo/MONDO_0044234 HRM2|curly hair|hair morphology 2; HRM2|hair curvature, variation 1N MONDO:0044233 obsolete hair whorl biolink:Disease mondo OMIM:139400 http://identifiers.org/omim/139400 http://purl.obolibrary.org/obo/MONDO_0044233 Cowlick|hair whorl|Double hair whorl RO:0002351 has member biolink:OntologyClass mondo has member is a mereological relation between a collection and an item. http://purl.obolibrary.org/obo/RO_0002351 MONDO:0044229 obsolete epiblepharon of lower 51d biolink:Disease mondo OMIM:131450 http://identifiers.org/omim/131450 http://purl.obolibrary.org/obo/MONDO_0044229 epiblepharon of lower lid MONDO:0044228 obsolete eegbqtl biolink:Disease mondo OMIM:130190 Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}). http://identifiers.org/omim/130190 http://purl.obolibrary.org/obo/MONDO_0044228 ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus; EEGBQTL|EEGBQTL HGNC:17168 RAB3GAP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17168 MONDO:0020294 atrial defect and interatrial communication biolink:Disease mondo ICD10:Q21.1|Orphanet:98727 ORPHA:98727 http://purl.obolibrary.org/obo/MONDO_0020294 atrial defect and interauricular communication|rare atrial defect and interatrial communication ordo_group_of_disorders MONDO:0020293 ascending aorta anomaly biolink:Disease mondo Orphanet:98725|ICD10:Q25.4 ORPHA:98725|UMLS:C0345043 http://purl.obolibrary.org/obo/MONDO_0020293 ordo_group_of_disorders MONDO:0020292 congenital anomaly of the great arteries biolink:Disease mondo Orphanet:98724|MedDRA:10061080 ORPHA:98724|MEDDRA:10061080|UMLS:C0948632 http://purl.obolibrary.org/obo/MONDO_0020292 congenital aorta, aortic arch or pulmonary arteries anomaly ordo_group_of_disorders MONDO:0044241 obsolete mydriatic response to pharmacologic agents biolink:Disease mondo OMIM:159410 http://identifiers.org/omim/159410 http://purl.obolibrary.org/obo/MONDO_0044241 mydriatic response to pharmacologic agents HGNC:17175 PLCE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17175 MONDO:0020291 hypoplastic right heart syndrome biolink:Disease mondo SCTID:268180007|UMLS:C0344963|Orphanet:98723|NCIT:C99053|COHD:4145158|ICD9:746.89|MedDRA:10064962|ICD10:Q22.6|MedDRA:10050053|DOID:0070315|GARD:0002922 Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia. UMLS:C0344963|ORPHA:98723|MEDDRA:10050053|NCIT:C99053|MEDDRA:10064962|UMLS:C0265856|DOID:0070315|SNOMEDCT:268180007 http://purl.obolibrary.org/obo/MONDO_0020291 right hypoplastic heart syndrome ordo_group_of_disorders|gard_rare MONDO:0044240 obsolete musical perfect pitch biolink:Disease mondo OMIM:159300 Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009}). http://identifiers.org/omim/159300 http://purl.obolibrary.org/obo/MONDO_0044240 musical perfect pitch|absolute pitch MONDO:0020290 atrioventricular septal defect biolink:Disease mondo ICD9:745.69|ICD9:745.60|DOID:0050651|OMIMPS:606215|SCTID:15459006|NCIT:C101029|ICD10:Q21.2|GARD:0000802|ICD9:745.6|Orphanet:98722 A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. ORPHA:98722|DOID:0050651|NCIT:C101029|SNOMEDCT:15459006 http://purl.obolibrary.org/obo/MONDO_0020290 AVSD|endocardial cushion defect|common atrioventricular canal|atrioventricular canal defect|AV septal defect|common AV canal|atrioventricular septal defect|AVCD|ECD gard_rare|ordo_group_of_disorders MONDO:0044247 obsolete palmomental reflex biolink:Disease mondo OMIM:167700 http://identifiers.org/omim/167700 http://purl.obolibrary.org/obo/MONDO_0044247 PALMOMENTAL reflex MONDO:0044246 obsolete nystagmus, voluntary biolink:Disease mondo OMIM:164170 Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}). http://identifiers.org/omim/164170 http://purl.obolibrary.org/obo/MONDO_0044246 NYSTAGMUS, voluntary MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 biolink:Disease mondo OMIM:171720 http://identifiers.org/omim/171720 http://purl.obolibrary.org/obo/MONDO_0044249 Alpqtl1|alkaline phosphatase, elevated serum|alkaline phosphatase, plasma level OF, quantitative trait locus 1|hyperphosphatasemia, benign familial MONDO:0020299 obsolete spinocerebellar ataxia type 15/16 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020299 MONDO:0044248 obsolete thiourea tasting biolink:Disease mondo OMIM:171200 The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}). http://identifiers.org/omim/171200 http://purl.obolibrary.org/obo/MONDO_0044248 prop tasting|Propylthiouracil tasting|Phenylthiocarbamide tasting|ptc tasting|THIOT|thiourea tasting; THIOT MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 biolink:Disease mondo UMLS:CN207093|Orphanet:98754|ICD10:Q87.1 ORPHA:98754|UMLS:CN207093 http://purl.obolibrary.org/obo/MONDO_0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15|UPD(15)mat ordo_etiological_subtype MONDO:0044243 obsolete nail high-sulfur protein biolink:Disease mondo OMIM:161070 http://identifiers.org/omim/161070 http://purl.obolibrary.org/obo/MONDO_0044243 nail high-sulfur PROTEIN MONDO:0020297 Noonan syndrome and Noonan-related syndrome biolink:Disease mondo Orphanet:98733|MESH:C537846|UMLS:CN166718 UMLS:CN166718|ORPHA:98733|MESH:C537846 http://purl.obolibrary.org/obo/MONDO_0020297 ordo_group_of_disorders MONDO:0044242 obsolete mydriasis, congenital biolink:Disease mondo OMIM:159420 http://identifiers.org/omim/159420 http://purl.obolibrary.org/obo/MONDO_0044242 mydriasis, congenital MONDO:0020296 congenital arteriovenous fistula biolink:Disease mondo MedDRA:10003226|NCIT:C35377|MESH:D001164|Orphanet:98731|SCTID:234148007 An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth. NCIT:C35377|MESH:D001164|ORPHA:98731|MEDDRA:10003226|SNOMEDCT:234148007|UMLS:C0003855 http://purl.obolibrary.org/obo/MONDO_0020296 ordo_group_of_disorders MONDO:0044245 obsolete nailbeds, pigmentation of biolink:Disease mondo OMIM:161100 http://identifiers.org/omim/161100 http://purl.obolibrary.org/obo/MONDO_0044245 NAILBEDS, pigmentation OF MONDO:0020295 congenital pulmonary veins anomaly biolink:Disease mondo SCTID:111322000|NCIT:C110942|Orphanet:98729 Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. NCIT:C110942|ORPHA:98729|SNOMEDCT:111322000 http://purl.obolibrary.org/obo/MONDO_0020295 congenital anomaly of pulmonary veins|pulmonary vein abnormality ordo_group_of_disorders MONDO:0044244 obsolete nail low-sulfur protein biolink:Disease mondo OMIM:161080 http://identifiers.org/omim/161080 http://purl.obolibrary.org/obo/MONDO_0044244 nail LOW-sulfur PROTEIN RO:0002334 regulated by biolink:OntologyClass mondo inverse of regulates http://purl.obolibrary.org/obo/RO_0002334 RO:0002335 negatively regulated by biolink:OntologyClass mondo inverse of negatively regulates http://purl.obolibrary.org/obo/RO_0002335 MONDO:0044239 obsolete median-ulnar nerve communications biolink:Disease mondo OMIM:155150 http://identifiers.org/omim/155150 http://purl.obolibrary.org/obo/MONDO_0044239 Martin-Gruber Median-ulnar anastomosis|median-ulnar nerve communications RO:0002336 positively regulated by biolink:OntologyClass mondo inverse of positively regulates http://purl.obolibrary.org/obo/RO_0002336 HP:0100765 Abnormality of the tonsils biolink:PhenotypicFeature mondo UMLS:C4021975 An abnormality of the tonsils. http://purl.obolibrary.org/obo/HP_0100765 HP:0100763 Abnormality of the lymphatic system biolink:PhenotypicFeature mondo UMLS:C4021976|SNOMEDCT_US:234087005|SNOMEDCT_US:111590001|UMLS:C0024228|MSH:D008206|SNOMEDCT_US:3305006|SNOMEDCT_US:362971004 An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. http://purl.obolibrary.org/obo/HP_0100763 Lymphatic disease HGNC:17142 OPTN biolink:OntologyClass mondo http://identifiers.org/hgnc/17142 MONDO:0022862 cormier rustin munnich syndrome biolink:Disease mondo GARD:0001523 http://purl.obolibrary.org/obo/MONDO_0022862 gard_rare MONDO:0007229 Brachymetatarsus 4 biolink:Disease mondo OMIM:113475 http://identifiers.org/omim/113475 http://purl.obolibrary.org/obo/MONDO_0007229 Brachymetatarsus type 4|toe, fourth, short|metatarsus IV, short|BRACHYMETATARSUS IV MONDO:0022863 corneal crystals myopathy neuropathy biolink:Disease mondo GARD:0001526 http://purl.obolibrary.org/obo/MONDO_0022863 gard_rare MONDO:0007227 Sillence syndrome biolink:Disease mondo Orphanet:3168|MESH:C537338|OMIM:113450|UMLS:C1862092|GARD:0004869|ICD10:Q74.8|SCTID:732956000 Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. ORPHA:3168|UMLS:C1862092|http://identifiers.org/omim/113450|MESH:C537338|SNOMEDCT:732956000 http://purl.obolibrary.org/obo/MONDO_0007227 brachydactyly-symphalangism syndrome|brachydactyly-distal symphalangism syndrome ordo_malformation_syndrome MONDO:0034846 primary desmosis coli biolink:Disease mondo Orphanet:565641|ICD10:K59.9 A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation. ORPHA:565641 http://purl.obolibrary.org/obo/MONDO_0034846 ordo_disease MONDO:0009889 autosomal recessive polycystic kidney disease biolink:Disease mondo ICD10:Q61.1|DOID:0110861|Orphanet:731|ICD9:753.14|UMLS:C0085548|MedDRA:10036047|SCTID:28770003|NCIT:C84579|GARD:0008378 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. NCIT:C84579|http://identifiers.org/omim/263200|MEDDRA:10036047|UMLS:C0085548|SNOMEDCT:28770003|ORPHA:731|DOID:0110861|MESH:D017044 http://purl.obolibrary.org/obo/MONDO_0009889 polycystic kidney disease, autosomal recessive; ARPKD|ARPKD|autosomal recessive polycystic kidney|PKHD1|AR-PKD|polycystic kidney disease, infantile type|polycystic kidney disease, autosomal recessive|polycystic kidney disease, infantile, type I|polycystic kidney disease, autosomal recessive|polycystic kidney and hepatic disease 1 ordo_disease MONDO:0007228 brachymesomelia-renal syndrome biolink:Disease mondo OMIM:113470|GARD:0000988|MESH:C537096|UMLS:C1862084 UMLS:C1862084|MESH:C537096|http://identifiers.org/omim/113470 http://purl.obolibrary.org/obo/MONDO_0007228 brachymesomelia renal syndrome|brachymesomelia-renal syndrome|severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities MONDO:0022865 corneal dystrophy ichthyosis microcephaly mental retardation biolink:Disease mondo GARD:0001528 http://purl.obolibrary.org/obo/MONDO_0022865 gard_rare MONDO:0010877 Charcot-Marie-Tooth disease type 5 biolink:Disease mondo DOID:0080067|UMLS:CN074211|OMIM:600361|SCTID:76043009|Orphanet:64751|ICD10:G60.0|GARD:0009208 Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. UMLS:CN074211|http://identifiers.org/omim/600361|DOID:0080067|SNOMEDCT:76043009|ORPHA:64751 http://purl.obolibrary.org/obo/MONDO_0010877 hereditary motor and sensory neuropathy 5|CMT with pyramidal features|hereditary motor and sensory neuropathy type 5|Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant|HMSN 5|hereditary motor and sensory neuropathy with pyramidal features|peroneal muscular atrophy with pyramidal features, autosomal dominant|HMSN5|hereditary motor and sensory neuropathy V|Charcot-Marie-Tooth disease-pyramidal features syndrome|Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant ordo_disease MONDO:0009888 polycystic kidney, cataract, and congenital blindness biolink:Disease mondo UMLS:C1849771|OMIM:263100|MESH:C564882 http://identifiers.org/omim/263100|MESH:C564882|UMLS:C1849771 http://purl.obolibrary.org/obo/MONDO_0009888 polycystic kidney, cataract, and congenital blindness MONDO:0020203 pigmented conjunctival lesion biolink:Disease mondo Orphanet:98615 ORPHA:98615 http://purl.obolibrary.org/obo/MONDO_0020203 ordo_group_of_disorders MONDO:0007225 fibular aplasia-ectrodactyly syndrome biolink:Disease mondo GARD:0002331|OMIM:113310|UMLS:C1862100|ICD10:Q73.8|MESH:C537930|Orphanet:1118 Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. UMLS:C1862100|http://identifiers.org/omim/113310|ORPHA:1118|MESH:C537930 http://purl.obolibrary.org/obo/MONDO_0007225 fibular aplasia ectrodactyly|brachydactyly-ectrodactyly with fibular aplasia or hypoplasia ordo_malformation_syndrome MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome biolink:Disease mondo ICD9:759.89|GARD:0000971|OMIM:113400|Orphanet:1246|MESH:C566192|SCTID:205828009|GARD:0000881|ICD10:Q87.8 Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients. http://identifiers.org/omim/113400|SNOMEDCT:205828009|ORPHA:1246|MESH:C566192 http://purl.obolibrary.org/obo/MONDO_0007226 Biemond syndrome type 1|brachydactyly - nystagmus - cerebellar ataxia|brachydactyly, nystagmus and cerebellar ataxia|Biemond syndrome|brachydactyly-NYSTAGMUS-cerebellar ataxia ordo_malformation_syndrome|gard_rare MONDO:0020202 obsolete conjunctival lymphangiectasia biolink:Disease mondo Orphanet:98614|UMLS:C0339186|ICD9:372.89|SCTID:231871007 UMLS:C0339186|ORPHA:98614|SNOMEDCT:231871007 http://purl.obolibrary.org/obo/MONDO_0020202 MONDO:0010876 recessive aplasia cutis congenita of limbs biolink:Disease mondo GARD:0000754|MESH:C536840|Orphanet:1115|OMIM:600360|UMLS:C1838206|SCTID:723500009|ICD10:Q84.8 Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980. ORPHA:1115|UMLS:C1838206|MESH:C536840|SNOMEDCT:723500009|http://identifiers.org/omim/600360 http://purl.obolibrary.org/obo/MONDO_0010876 recessive aplasia cutis congenita of the limbs|congenital absence of skin on the upper or lower limbs|aplasia cutis congenita of limbs, autosomal recessive|aplasia cutis congenita of limbs recessive ordo_disease|gard_rare RO:0002331 involved_in biolink:OntologyClass mondo c involved_in p if and only if c enables some process p', and p' is part of p http://purl.obolibrary.org/obo/RO_0002331 MONDO:0009887 desquamative interstitial pneumonia biolink:Disease mondo SCTID:8549006|OMIM:263000|NCIT:C35288|UMLS:C0238378|ICD10:J84.1|COHD:4045227|ICD9:516.37|MESH:C562470|DOID:0050158|ICD9:516.34|Orphanet:98852|ICD10:J84.117|ICD10:J84.115 A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis. http://identifiers.org/omim/263000|SNOMEDCT:8549006|UMLS:C0238378|NCIT:C35288|DOID:0050158|ORPHA:98852|MESH:C562470 http://purl.obolibrary.org/obo/MONDO_0009887 familial desquamative interstitial pneumonitis|interstitial pneumonitis, desquamative, familial|pneumonia, desquamative interstitial, familial|DIP|interstitial pneumonitis, desquamative, familial; DIP|respiratory bronchiolitis-associated interstitial lung disease|RBILD|respiratory bronchiolitis interstitial lung disease|interstitial lung disease, desquamative|ILD, desquamative|desquamative interstitial pneumonia|pneumonitis, desquamative interstitial, familial ordo_disease MONDO:0020201 obsolete conjunctival telangiectasia (disease) biolink:Disease mondo Orphanet:98613|HP:0000524|UMLS:C0239105|MedDRA:10072143 ORPHA:98613|MEDDRA:10072143|UMLS:C0239105 http://purl.obolibrary.org/obo/MONDO_0020201 conjunctival telangiectasia MONDO:0009886 pleoconial myopathy with salt craving biolink:Disease mondo GARD:0010318|UMLS:C1849773|MESH:C564883|OMIM:262900 http://identifiers.org/omim/262900|MESH:C564883|UMLS:C1849773 http://purl.obolibrary.org/obo/MONDO_0009886 pleoconial myopathy with salt craving gard_rare MONDO:0010879 CODAS syndrome biolink:Disease mondo MESH:C536434|Orphanet:1458|OMIM:600373|UMLS:C1838180|SCTID:717772000|ICD10:Q87.8|GARD:0001418|NCIT:C126744 Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. http://identifiers.org/omim/600373|ORPHA:1458|UMLS:C1838180|MESH:C536434|SNOMEDCT:717772000|NCIT:C126744 http://purl.obolibrary.org/obo/MONDO_0010879 cerebrooculodentoauriculoskeletal syndrome|cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebro-oculo-dento-auriculo-skeletal syndrome|CODAS syndrome|cerebral, ocular, dental, auricular, and skeletal syndrome gard_rare|ordo_malformation_syndrome MONDO:0007223 brachydactyly type E1 biolink:Disease mondo MESH:C566194|OMIM:113300|DOID:0110972 Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene. http://identifiers.org/omim/113300|MESH:C566194|DOID:0110972 http://purl.obolibrary.org/obo/MONDO_0007223 brachydactyly, type E1|brachydactyly type E caused by mutation in HOXD13|BDE1|HOXD13 brachydactyly type E|brachydactyly, type E1; BDE1|brachydactyly, type E MONDO:0010878 hereditary spastic paraplegia 6 biolink:Disease mondo UMLS:C4518537|GARD:0004928|OMIM:600363|DOID:0110811|SCTID:732949006|UMLS:C1838192|ICD10:G11.4|MESH:C536866|Orphanet:100988 Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. ORPHA:100988|http://identifiers.org/omim/600363|UMLS:C1838192|MESH:C536866|DOID:0110811|SNOMEDCT:732949006|UMLS:C4518537 http://purl.obolibrary.org/obo/MONDO_0010878 spastic paraplegia 6, autosomal dominant; SPG6|NIPA1 hereditary spastic paraplegia|SPG6|FSP3|familial spastic paraplegia autosomal dominant 3|spastic paraplegia 6|hereditary spastic paraplegia caused by mutation in NIPA1|familial spastic paraplegia, autosomal dominant, 3|autosomal dominant spastic paraplegia type 6|spastic paraplegia 6, autosomal dominant|autosomal dominant spastic paraplegia 6|hereditary spastic paraplegia type 6|autosomal dominant familial spastic paraplegia type 3 ordo_disease MONDO:0020200 obsolete conjunctival hemangioma or hemolymphangioma biolink:Disease mondo Orphanet:98612 ORPHA:98612 http://purl.obolibrary.org/obo/MONDO_0020200 MONDO:0009885 Scott syndrome biolink:Disease mondo ICD10:D69.8|UMLS:C0796149|DOID:0111052|SCTID:128098009|GARD:0004777|MESH:C563120|OMIM:262890|Orphanet:806 Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. UMLS:C0796149|http://identifiers.org/omim/262890|DOID:0111052|SNOMEDCT:128098009|ORPHA:806|MESH:C563120 http://purl.obolibrary.org/obo/MONDO_0009885 Platelet factor X receptor deficiency|familial prothrombin consumption inhibitor|Scott syndrome|prothrombin consumption inhibitor, familial|BDPLT7|bleeding disorder, Platelet-type, 7|prothrombin consumption deficiency|bleeding abnormality due to deficiency of platelet biding of factor X|SCTS|familial prothrombin conversion defect|Scott syndrome; SCTS|platelet-type bleeding disorder 7|prothrombin conversion defect, familial|bleeding Abnormality due to deficiency of Platelet binding of Factor 10 gard_rare|ordo_disease MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 biolink:Disease mondo MESH:C566193|UMLS:C1862101|OMIM:113301 UMLS:C1862101|http://identifiers.org/omim/113301|MESH:C566193 http://purl.obolibrary.org/obo/MONDO_0007224 brachydactyly, type E, with atrial septal defect, type II RO:0002333 enabled by biolink:OntologyClass mondo inverse of enables http://purl.obolibrary.org/obo/RO_0002333 MONDO:0007221 brachydactyly type C biolink:Disease mondo DOID:0110970|ICD10:Q73.8|MESH:C537093|GARD:0000986|OMIM:113100|Orphanet:93384|UMLS:C1862103 ORPHA:93384|UMLS:C1862103|http://identifiers.org/omim/113100|MESH:C537093|UMLS:C1300268|DOID:0110970 http://purl.obolibrary.org/obo/MONDO_0007221 brachydactyly, type C|brachydactyly, Haws type|brachydactyly Haws type|BDC|brachydactyly, type C; BDC|BDC ordo_malformation_syndrome MONDO:0009884 platelet prostacyclin receptor defect biolink:Disease mondo UMLS:C1849774|MESH:C564884|OMIM:262875 http://identifiers.org/omim/262875|MESH:C564884|UMLS:C1849774 http://purl.obolibrary.org/obo/MONDO_0009884 platelet prostacyclin receptor defect|Vienna-Hietzing defect MONDO:0009883 alpha-2-plasmin inhibitor deficiency biolink:Disease mondo SCTID:716746003|DOID:0060601|OMIM:262850|GARD:0000731|Orphanet:79|MESH:C537777|ICD10:D68.8|UMLS:C2752081 Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner. SNOMEDCT:716746003|http://identifiers.org/omim/262850|MESH:C537777|UMLS:C2752081|DOID:0060601|ORPHA:79 http://purl.obolibrary.org/obo/MONDO_0009883 antiplasmin deficiency|antiplasmin deficiency, congenital|plasmin inhibitor deficiency|anti-plasmin deficiency, congenital|congenital alpha2-antiplasmin deficiency|plasmin inhibitor deficiency|antiplasmin defiency|alpha-2-plasmin inhibitor deficiency ordo_disease MONDO:0007222 brachydactyly type D biolink:Disease mondo MESH:C562420|OMIM:113200|DOID:0110971 A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1. http://identifiers.org/omim/113200|DOID:0110971|MESH:C562420 http://purl.obolibrary.org/obo/MONDO_0007222 brachydactyly, type D|BDD|brachydactyly, type D; BDD|stub thumb MONDO:0009882 plasma clot retraction factor, deficiency of biolink:Disease mondo MESH:C564885|OMIM:262800|UMLS:C1849778 http://identifiers.org/omim/262800|MESH:C564885|UMLS:C1849778 http://purl.obolibrary.org/obo/MONDO_0009882 plasma clot retraction factor, deficiency of MONDO:0007220 brachydactyly type B1 biolink:Disease mondo OMIM:113000|DOID:0110969|MESH:C566196 Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene. http://identifiers.org/omim/113000|MESH:C566196|DOID:0110969 http://purl.obolibrary.org/obo/MONDO_0007220 ROR2 brachydactyly type B|brachydactyly type B caused by mutation in ROR2|brachydactyly, type B1|brachydactyly, type B|brachydactyly, type B1; BDB1|BDB1 MONDO:0009881 pituitary dwarfism with large sella turcica biolink:Disease mondo UMLS:C0271575|SCTID:27270004|MESH:C562705|GARD:0010607|ICD9:253.8|OMIM:262710 UMLS:C0271575|http://identifiers.org/omim/262710|SNOMEDCT:27270004|MESH:C562705 http://purl.obolibrary.org/obo/MONDO_0009881 pituitary dwarfism with large sella turcica gard_rare MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 biolink:Disease mondo OMIM:600376|GARD:0009901 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene. http://identifiers.org/omim/600376 http://purl.obolibrary.org/obo/MONDO_0010880 telangiectasia hereditary hemorrhagic type 2|telangiectasia, hereditary hemorrhagic, type 2; HHT2|Osler Weber Rendu syndrome type 2|hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1|ORW2|telangiectasia, hereditary hemorrhagic, type 2|HHT2|ACVRL1 hereditary hemorrhagic telangiectasia|hereditary hemorrhagic telangiectasia type 2|pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related gard_rare MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome biolink:Disease mondo UMLS:C2678408|GARD:0010604|OMIM:262700|Orphanet:85442|MESH:C567492 Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). MESH:C567492|http://identifiers.org/omim/262700|ORPHA:85442|UMLS:C2678408 http://purl.obolibrary.org/obo/MONDO_0009880 short stature, pituitary and cerebellar defects, and small sella turcica|pituitary hormone deficiency, combined, type 4|pituitary hormone deficiency, combined, with or without cerebellar defects|pituitary hormone deficiency, combined 4|CPHD4|pituitary hormone deficiency, combined, 4; CPHD4|pituitary hormone deficiency, combined with or without cerebellar defects|pituitary hormone deficiency, combined, 4|short stature, pituitary and cerebellar defects and small sella turcica ordo_disease HGNC:2395 CRYBA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2395 RO:0002327 enables biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002327 RO:0002328 functionally related to biolink:OntologyClass mondo A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. http://purl.obolibrary.org/obo/RO_0002328 HGNC:2394 CRYBA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2394 MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome biolink:Disease mondo Orphanet:1113|OMIM:600384|GARD:0000748|ICD10:Q87.2|MESH:C563942|UMLS:C1838161 Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. UMLS:C1838161|MESH:C563942|http://identifiers.org/omim/600384|ORPHA:1113 http://purl.obolibrary.org/obo/MONDO_0010882 Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4|Aphalangia partial with syndactyly and duplication of metatarsal IV|APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV|Aphalangia, partial, with syndactyly and Duplication of metatarsal 4 ordo_malformation_syndrome|gard_rare RO:0002329 part of structure that is capable of biolink:OntologyClass mondo this relation holds between c and p when c is part of some c', and c' is capable of p. http://purl.obolibrary.org/obo/RO_0002329 MONDO:0010881 mesomelia-synostoses syndrome biolink:Disease mondo UMLS:C1838162|MESH:C537348|ICD10:Q74.8|GARD:0004302|Orphanet:2496|SCTID:724147004|OMIM:600383 Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. UMLS:C1838162|SNOMEDCT:724147004|http://identifiers.org/omim/600383|ORPHA:2496|MESH:C537348 http://purl.obolibrary.org/obo/MONDO_0010881 mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type|mesomelia synostoses|mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type|dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis|mesomelic dysplasia, syndromic|Verloes-David syndrome|8q13 microdeletion syndrome|mesomelia-synostoses syndrome|chromosome 8Q13 deletion syndrome|Del(8)q(13)|monosomy 8q13 ordo_malformation_syndrome|gard_rare MONDO:0019218 inborn disorder of bile acid synthesis biolink:Disease mondo UMLS:CN231736|Orphanet:79168|UMLS:CN544763|GTR:AN0923838 Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. UMLS:CN231736|UMLS:CN544763|ORPHA:79168 http://purl.obolibrary.org/obo/MONDO_0019218 disorder of bile acid synthesis|inborn errors of bile acid synthesis|inborn error of bile acid biosynthetic process|rare inborn error of bile acid biosynthetic process|inborn bile acid biosynthetic process disorder|rare inborn error of bile acid biosynthetic process ordo_group_of_disorders RO:0002323 mereotopologically related to biolink:OntologyClass mondo A mereological relationship or a topological relationship http://purl.obolibrary.org/obo/RO_0002323 MONDO:0010884 muscular dystrophy, scapulohumeral biolink:Disease mondo UMLS:C0410192|MESH:C562932|SCTID:240074006|OMIM:600416 SNOMEDCT:240074006|MESH:C562932|UMLS:C0410192|http://identifiers.org/omim/600416 http://purl.obolibrary.org/obo/MONDO_0010884 muscular dystrophy, scapulohumeral MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome biolink:Disease mondo SCTID:763863002|Orphanet:2835|GARD:0000374|UMLS:C2931302|OMIM:600399|MESH:C536728 Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. SNOMEDCT:763863002|MESH:C536728|UMLS:C2931302|http://identifiers.org/omim/600399|ORPHA:2835 http://purl.obolibrary.org/obo/MONDO_0010883 pectus excavatum, macrocephaly, short stature, and dysplastic nails|familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails|Zori-Stalker-Williams syndrome|Zori Stalker Williams syndrome|pectus excavatum, macrocephaly and dysplastic nails ordo_malformation_syndrome RO:0002324 developmentally related to biolink:OntologyClass mondo A relationship that holds between entities participating in some developmental process (GO:0032502) http://purl.obolibrary.org/obo/RO_0002324 MONDO:0019217 obsolete inborn disorder of urea cycle metabolism and ammonia detoxification biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019217 MONDO:0010886 2q37 microdeletion syndrome biolink:Disease mondo ICD9:758.39|UMLS:C2931817|GARD:0010202|NCIT:C129021|Orphanet:1001|ICD10:Q93.5|MESH:C538317|SCTID:702357000|OMIM:600430 Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism. UMLS:C2931817|SNOMEDCT:702357000|MESH:C538317|ORPHA:1001|NCIT:C129021|http://identifiers.org/omim/600430 http://purl.obolibrary.org/obo/MONDO_0010886 BDMR|Albright hereditary osteodystrophy type 3|brachydactyly-intellectual disability syndrome|Albright hereditary osteodystrophy-like syndrome|2q37 deletion syndrome|chromosome 2q37 deletion syndrome|brachydactyly-mental retardation syndrome|Del(2)(q37)|brachydactyly-intellectual disability syndrome|Albright hereditary osteodystrophy-like syndrome|brachydactyly mental retardation syndrome|deletion 2q37-qter|monosomy 2q37-qter|deletion 2q37|brachydactyly intellectual disability syndrome ordo_malformation_syndrome MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas biolink:Disease mondo OMIM:600419|MESH:C563940|UMLS:C1838141 UMLS:C1838141|MESH:C563940|http://identifiers.org/omim/600419 http://purl.obolibrary.org/obo/MONDO_0010885 angiokeratoma corporis diffusum with arteriovenous fistulas MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport biolink:Disease mondo Orphanet:79169|UMLS:CN227586 UMLS:CN227586|ORPHA:79169 http://purl.obolibrary.org/obo/MONDO_0019219 disorder of neurotransmitter metabolism and transport ordo_group_of_disorders MONDO:0019214 inborn carbohydrate metabolic disorder biolink:Disease mondo MedDRA:10061023|DOID:2978|NCIT:C97089|MESH:D002239|ICD9:271.8|Orphanet:79161|EFO:1000061 An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. UMLS:C0149670|MESH:D002239|ORPHA:79161|MEDDRA:10061023|NCIT:C97089|DOID:2978 http://purl.obolibrary.org/obo/MONDO_0019214 rare inborn error of carbohydrate metabolic process|inborn errors of carbohydrate metabolism|disorder of carbohydrate metabolism|rare inborn error of carbohydrate metabolic process|disorder of carbohydrate transport and metabolism|carbohydrate metabolism disorder|carbohydrate metabolic disorder|inborn carbohydrate metabolism disorder|inborn error of carbohydrate metabolic process|inborn carbohydrate metabolic process disorder ordo_group_of_disorders MONDO:0022855 congenital vagal hyperreflexivity biolink:Disease mondo GARD:0001508 http://purl.obolibrary.org/obo/MONDO_0022855 gard_rare MONDO:0019213 cerebral organic aciduria biolink:Disease mondo Orphanet:79158 A inherited organic acidemia that involves the brain. ORPHA:79158 http://purl.obolibrary.org/obo/MONDO_0019213 inherited organic acidemia of brain|brain inherited organic acidemia ordo_group_of_disorders MONDO:0022856 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022856 MONDO:0019216 inborn disorder of amino acid absorption and transport biolink:Disease mondo Orphanet:79166|UMLS:C0268641|ICD10:E72.0|ICD9:270.0|SCTID:16784003 UMLS:C0268641|ORPHA:79166|SNOMEDCT:16784003 http://purl.obolibrary.org/obo/MONDO_0019216 disorder of amino acid absorption and transport|disorder of amino acid transport ordo_group_of_disorders MONDO:0022857 obsolete continuous muscle fiber activity hereditary biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022857 MONDO:0022858 continuous spike-wave during slow sleep syndrome biolink:Disease mondo GARD:0001513 http://purl.obolibrary.org/obo/MONDO_0022858 gard_rare MONDO:0019215 classic organic aciduria biolink:Disease mondo Orphanet:79163 ORPHA:79163 http://purl.obolibrary.org/obo/MONDO_0019215 ordo_group_of_disorders MONDO:0022859 cor biloculare biolink:Disease mondo ICD9:745.7|SCTID:81990004|GARD:0006193|NCIT:C124591|UMLS:C0152238 A congenital anatomic anomaly in which the heart has only two chambers. SNOMEDCT:81990004|NCIT:C124591|UMLS:C0152238 http://purl.obolibrary.org/obo/MONDO_0022859 TWO-chambered heart|cor biloculare|Cor Biloculare|absence of atrial and ventricular septa gard_rare MONDO:0019210 cutaneous neuroendocrine carcinoma biolink:Disease mondo ONCOTREE:MCC|SCTID:253001006|UMLS:C0007129|COHD:4100425|Orphanet:79140|MESH:D015266|ICD10:C44.7|ICD10:C44.6|EFO:1001471|ICD9:209.36|GARD:0009266|NCIT:C9231|ICD10:C44.3|ICDO:8247/3 Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)). MESH:D015266|NCIT:C9231|UMLS:C0007129|ORPHA:79140|SNOMEDCT:253001006 http://purl.obolibrary.org/obo/MONDO_0019210 MCC|cutaneous APUDoma|carcinoma of Merkel cell|trabecular cancer|cutaneous neuroendocrine carcinoma|Merkle tumors|Merkel cell carcinoma|neuroendocrine skin carcinoma|Merkel cell tumor|trabecular skin carcinoma|neuroendocrine carcinoma of skin|carcinoma, Merkel cell|Merkel cell cancer|neuroendocrine carcinoma of the skin ordo_disease HGNC:2398 CRYBB2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2398 MONDO:0019212 disseminated superficial actinic porokeratosis biolink:Disease mondo ICD9:692.75|ICD10:Q82.8|Orphanet:79152|SCTID:41495000|GARD:0010983 Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. SNOMEDCT:41495000|UMLS:C0265970|ORPHA:79152 http://purl.obolibrary.org/obo/MONDO_0019212 ordo_disease HGNC:17146 ARL2BP biolink:OntologyClass mondo http://identifiers.org/hgnc/17146 HGNC:2397 CRYBB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2397 MONDO:0019211 isolated congenital anonychia biolink:Disease mondo GARD:0012930|Orphanet:79143|ICD10:Q84.3 Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern. ORPHA:79143 http://purl.obolibrary.org/obo/MONDO_0019211 congenital anonychia|autosomal recessive nonsyndromic congenital nail disorder-4|isolated anonychia|nonsyndromic congenital nail disorder, 4 ordo_disease HGNC:2396 CRYBA4 biolink:OntologyClass mondo http://identifiers.org/hgnc/2396 HGNC:17151 ORC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/17151 HP:0100774 Hyperostosis biolink:PhenotypicFeature mondo SNOMEDCT_US:203514008|MSH:D015576|UMLS:C0020492|SNOMEDCT_US:13814009 Excessive growth or abnormal thickening of bone tissue. http://purl.obolibrary.org/obo/HP_0100774 Bone overgrowth|Bone Hypertrophy MONDO:0022850 obsolete congenital sucrose isomaltose malabsorption biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022850 MONDO:0022851 Dennis-Fairhurst-Moore syndrome biolink:Disease mondo MESH:C538210|Orphanet:2109|GARD:0000290 A severe form of Hallermann-Streiff syndrome, observed in one family. ORPHA:2109|MESH:C538210 http://purl.obolibrary.org/obo/MONDO_0022851 Dennis Fairhurst Moore syndrome|Hallermam Streiff like syndrome n_of_one|gard_rare MONDO:0007238 amastia biolink:Disease mondo SCTID:75474006|GARD:0009489|OMIM:113700|NCIT:C118459|MESH:C535565|UMLS:CN033494 Absence of one or both mammary glands. SNOMEDCT:75474006|NCIT:C118459|UMLS:CN033494|http://identifiers.org/omim/113700|MESH:C535565 http://purl.obolibrary.org/obo/MONDO_0007238 complete absence of breasts|absent breasts and nipples|breasts and/or nipples, aplasia or hypoplasia of, 1|breasts and/or nipples, aplasia or hypoplasia of, 1; BNAH1|athelia|amazia|BNAH1|amastia gard_rare MONDO:0007239 epidermolytic hyperkeratosis biolink:Disease mondo MESH:D017488|SCTID:254167000|ICD10:Q80.3|DOID:4603|NCIT:C62569|OMIM:113800|Orphanet:312|GARD:0001039 Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. MESH:D017488|SNOMEDCT:254167000|UMLS:C0079153|http://identifiers.org/omim/113800|ORPHA:312|DOID:4603|NCIT:C62569 http://purl.obolibrary.org/obo/MONDO_0007239 epidermolytic ichthyosis|BCIE|bullous congenital ichthyosiform erythroderma|epidermolytic hyperkeratosis|bullous congenital ichthyosiform erythroderma of Brock|epidermolytic palmoplantar hyperkeratosis|bullous erythroderma Ichthyosiformis congenita of Brocq|epidermolytic hyperkeratosis; EHK|epidermolytic hyperkeratosis, late-onset|congenital bullous ichthyosiform erythroderma|EI|bullous ichthyosis|bullous ichthyosiform erythroderma|autosomal dominant epidermolytic ichthyosis|EHK|bullous ichthyosiform erythroderma congenita|ichthyosis hystrix Brocq type ordo_disease MONDO:0022854 congenital unilateral pulmonary hypoplasia biolink:Disease mondo GARD:0001507 http://purl.obolibrary.org/obo/MONDO_0022854 gard_rare MONDO:0009899 polyhydramnios, chronic idiopathic biolink:Disease mondo MESH:C564876|UMLS:C1849720|OMIM:263610 http://identifiers.org/omim/263610|MESH:C564876|UMLS:C1849720 http://purl.obolibrary.org/obo/MONDO_0009899 polyhydramnios, chronic idiopathic|Lactogen receptor defect of chorion MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia biolink:Disease mondo UMLS:C1838258|Orphanet:85179|SCTID:724226009|ICD10:Q78.2|OMIM:600329|MESH:C536055|GARD:0010082 This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. http://identifiers.org/omim/600329|ORPHA:85179|MESH:C536055|UMLS:C1838258|SNOMEDCT:724226009 http://purl.obolibrary.org/obo/MONDO_0010866 osteopetrosis and infantile neuroaxonal dystrophy ordo_malformation_syndrome MONDO:0007236 branchiootorenal syndrome 1 biolink:Disease mondo OMIM:113650 http://identifiers.org/omim/113650 http://purl.obolibrary.org/obo/MONDO_0007236 Melnick-Fraser syndrome|branchiootorenal syndrome 1; BOR1|branchiootorenal syndrome 1|BOR1|branchiootorenal dysplasia|branchiootorenal syndrome type 1 MONDO:0009898 polysaccharide, storage of unusual biolink:Disease mondo MESH:C564877|OMIM:263600 http://identifiers.org/omim/263600|MESH:C564877 http://purl.obolibrary.org/obo/MONDO_0009898 polysaccharide, storage of unusual MONDO:0007237 familial juvenile hypertrophy of the breast biolink:Disease mondo ICD10:N62|OMIM:113670|UMLS:CN226754|MESH:C536821|Orphanet:180176 Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. http://identifiers.org/omim/113670|ORPHA:180176|UMLS:CN226754|MESH:C536821 http://purl.obolibrary.org/obo/MONDO_0007237 virginal mammary hypertrophy|juvenile gigantomastia|juvenile macromastia|hypertrophy of the breast, juvenile|virginal breast hypertrophy|gigantomastia, juvenile|hypertrophy of the breast, juvenile; JHB|familial juvenile gigantomastia|JHB ordo_morphological_anomaly MONDO:0010865 pseudoaminopterin syndrome biolink:Disease mondo ICD10:Q82.0|UMLS:C0795939|MESH:C535823|Orphanet:221120|SCTID:715867000|GARD:0004544|OMIM:600325 Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. http://identifiers.org/omim/600325|UMLS:C0795939|MESH:C535823|ORPHA:221120|SNOMEDCT:715867000 http://purl.obolibrary.org/obo/MONDO_0010865 pseudoaminopterin syndrome|aminopterin syndrome sine aminopterin; ASSA|aminopterin syndrome sine aminopterin|aminopterin syndrome-like sine aminopterin|ASSA gard_rare|ordo_malformation_syndrome RO:0002320 evolutionarily related to biolink:OntologyClass mondo A relationship that holds via some environmental process http://purl.obolibrary.org/obo/RO_0002320 MONDO:0009897 adult polyglucosan body disease biolink:Disease mondo OMIM:263570|SCTID:721099001|MESH:C564878|GARD:0000108|ICD10:E74.0|Orphanet:206583 Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. http://identifiers.org/omim/263570|SNOMEDCT:721099001|MESH:C564878|ORPHA:206583 http://purl.obolibrary.org/obo/MONDO_0009897 polyglucosan body neuropathy, adult form|APBD|APBN|polyglucosan body disease, adult form|polyglucosan body neuropathy, adult form; APBN|polyglucosan body disease, adult ordo_clinical_subtype|gard_rare MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia biolink:Disease mondo OMIM:113610|MESH:C566188|UMLS:C1862071 UMLS:C1862071|http://identifiers.org/omim/113610|MESH:C566188 http://purl.obolibrary.org/obo/MONDO_0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia MONDO:0010868 rippling muscle disease 1 biolink:Disease mondo GARD:0009165|OMIM:600332|DOID:0070308 http://identifiers.org/omim/600332|DOID:0070308 http://purl.obolibrary.org/obo/MONDO_0010868 rippling muscle disease 1|RMD1|rippling muscle disease, 1|rippling muscle disease 1; RMD1 RO:0002321 ecologically related to biolink:OntologyClass mondo A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) http://purl.obolibrary.org/obo/RO_0002321 MONDO:0007235 branchiooculofacial syndrome biolink:Disease mondo ICD10:Q18.8|SCTID:449821007|OMIM:113620|Orphanet:1297|GARD:0003212|ICD9:759.89|DOID:0050691 Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. UMLS:C0376524|http://identifiers.org/omim/113620|ORPHA:1297|DOID:0050691|SNOMEDCT:449821007 http://purl.obolibrary.org/obo/MONDO_0007235 branchio-oculo-facial syndrome|branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging|BOFS syndrome|BOFS|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging|branchiooculofacial syndrome; BOFS|Bof syndrome|branchiooculofacial syndrome|lip Pseudocleft-Hemangiomatous branchial cyst syndrome|hemangiomatous branchial clefts-Lip Pseudocleft syndrome gard_rare|ordo_malformation_syndrome MONDO:0010867 PARC syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C1838256|OMIM:600331|Orphanet:2825|GARD:0004223|MESH:C537174 PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. http://identifiers.org/omim/600331|MESH:C537174|ORPHA:2825|UMLS:C1838256 http://purl.obolibrary.org/obo/MONDO_0010867 poikiloderma, alopecia, retrognathism, and cleft palate|PARC syndrome|poikiloderma-alopecia-retrognathism-cleft palate syndrome gard_rare|ordo_malformation_syndrome MONDO:0009896 polymyoclonus, infantile biolink:Disease mondo OMIM:263550|MESH:C535524|UMLS:C1849731 http://identifiers.org/omim/263550|MESH:C535524|UMLS:C1849731 http://purl.obolibrary.org/obo/MONDO_0009896 polymyoclonus, infantile MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome biolink:Disease mondo UMLS:C1849732|Orphanet:2916|ICD10:Q87.2|MESH:C564880|OMIM:263540 Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. http://identifiers.org/omim/263540|ORPHA:2916|MESH:C564880|UMLS:C1849732 http://purl.obolibrary.org/obo/MONDO_0009895 polydactyly, postaxial, with dental and vertebral anomalies ordo_malformation_syndrome MONDO:0007232 autosomal dominant brachyolmia biolink:Disease mondo GARD:0010429|ICD10:Q76.3|SCTID:717264003|Orphanet:93304|OMIM:113500 Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. http://identifiers.org/omim/113500|ORPHA:93304|SNOMEDCT:717264003 http://purl.obolibrary.org/obo/MONDO_0007232 brachyolmia type 3; BCYM3|brachyrachia|brachyolmia type 3|brachyolmia autosomal dominant|BCYM3|brachyolmia, autosomal dominant ordo_malformation_syndrome MONDO:0007233 second branchial cleft anomaly biolink:Disease mondo Orphanet:141022|ICD10:Q18.0|SCTID:73381000119100|OMIM:113600|NCIT:C104813 A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck. ORPHA:141022|http://identifiers.org/omim/113600|NCIT:C104813|SNOMEDCT:73381000119100 http://purl.obolibrary.org/obo/MONDO_0007233 second branchial cleft cyst|second branchial cleft fistula|branchial cleft remnant|branchial cleft|branchial cysts|branchial cleft anomalies ordo_morphological_anomaly MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly biolink:Disease mondo ICD10:Q77.2|DOID:0110092|OMIM:263520|NCIT:C122654 A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. http://identifiers.org/omim/263520|NCIT:C122654|DOID:0110092 http://purl.obolibrary.org/obo/MONDO_0009894 SRTD6|short-rib thoracic dysplasia 6 with or without polydactyly|Srps, type 2|polydactyly with neonatal chondrodystrophy type II|SRPS2A|short-rib thoracic dysplasia 6 with or without polydactyly; SRTD6|short rib-polydactyly syndrome type IIA|short rib-polydactyly syndrome, type 2|Majewski syndrome|polydactyly with neonatal chondrodystrophy, type 2|polydactyly with neonatal chondrodystrophy, type II|short rib-polydactyly syndrome, type 2A|short rib-polydactyly syndrome type II MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia biolink:Disease mondo MESH:C563954|OMIM:600333|UMLS:C1838253 http://identifiers.org/omim/600333|UMLS:C1838253|MESH:C563954 http://purl.obolibrary.org/obo/MONDO_0010869 motor neuron disease with dementia and ophthalmoplegia MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome biolink:Disease mondo MESH:C536242|ICD10:Q87.1|Orphanet:1292|SCTID:720573009|UMLS:C1862082|OMIM:113477|GARD:0000918 Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. UMLS:C1862082|http://identifiers.org/omim/113477|ORPHA:1292|SNOMEDCT:720573009|MESH:C536242 http://purl.obolibrary.org/obo/MONDO_0007230 bod syndrome|Brachymorphism onychodysplasia dysphalangism syndrome|Brachymorphism-onychodysplasia-dysphalangism syndrome|Senior syndrome ordo_malformation_syndrome MONDO:0009893 polydactyly, postaxial, type A5 biolink:Disease mondo OMIM:263450|UMLS:C3550661 http://identifiers.org/omim/263450|UMLS:C3550661 http://purl.obolibrary.org/obo/MONDO_0009893 polydactyly, postaxial, type A5|PAPA5|polydactyly, postaxial, type A5; PAPA5 MONDO:0009892 Chuvash polycythemia biolink:Disease mondo Orphanet:238557|UMLS:C1837915|MESH:C563918|DOID:0060474|OMIM:263400|ICD10:D75.1 Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. http://identifiers.org/omim/263400|ORPHA:238557|DOID:0060474|UMLS:C1837915|MESH:C563918 http://purl.obolibrary.org/obo/MONDO_0009892 polycythemia, Chuvash type|Von Hippel-Lindau-dependent polycythemia|polycythemia, VHL-dependent|familial erythrocytosis 2|Chuvash erythromatosis|VHL familial polycythemia|Chuvash type polycythemia|erythrocytosis, familial, type 2|autosomal recessive benign erythrocytosis|Chuvash erythrocytosis|familial polycythemia caused by mutation in VHL|erythrocytosis, autosomal recessive benign|erythrocytosis, familial, 2; ECYT2|ECYT2|erythrocytosis, familial, 2|Chuvash polycythemia ordo_disease MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome biolink:Disease mondo OMIM:113480|ICD10:Q87.0|MESH:C537101|Orphanet:1295|UMLS:C2931421 Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986. MESH:C537101|http://identifiers.org/omim/113480|ORPHA:1295|UMLS:C2931421 http://purl.obolibrary.org/obo/MONDO_0007231 BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome ordo_malformation_syndrome MONDO:0009891 acquired polycythemia vera biolink:Disease mondo ICD10:D45|NCIT:C3336|ONCOTREE:PV|MedDRA:10036057|MESH:D011087|COHD:135214|UMLS:C0032463|ICDO:9950/3|DOID:8997|ICD9:238.4|Orphanet:729|EFO:0002429|OMIM:263300|GARD:0007422 Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. ORPHA:729|MESH:D011087|NCIT:C3336|UMLS:C0032463|DOID:8997|http://identifiers.org/omim/263300|MEDDRA:10036057 http://purl.obolibrary.org/obo/MONDO_0009891 polycythaemia rubra vera|Osler-Vaquez syndrome|PV|polycythemia vera; PV|primary polycythemia|polycythemia vera|Osler-Vaquez disease|PRV|polycythemia rubra vera|Vaquez disease|proliferative polycythaemia|acquired primary erythrocytosis ordo_disease UBERON:0004099 joint space of elbow biolink:AnatomicalEntity mondo Joint cavity shared by all the joints of the elbow. The elbow joint is a compound joint that actually comprises three separate joints: the joints connecting the upper and lower arm: 1) Articulatio humero-ulnaris and 2) Articulatio humero-radialis as well as the proximal joint connecting the forarm bones: 3) Articulatio radio-ulnaris proximalis. All three share a joint cavity which is highly sinuated/scalloped/coved. Joint spaces of the elbow summarizes the joint cavity shared by all three adjoining joints of the elbow joint. http://purl.obolibrary.org/obo/UBERON_0004099 synovial cavity of elbow joint MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome biolink:Disease mondo MESH:C564881|UMLS:C1849762|OMIM:263210 MESH:C564881|UMLS:C1849762|http://identifiers.org/omim/263210 http://purl.obolibrary.org/obo/MONDO_0009890 GIKANIS|polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia|Gillessen-Kaesbach-Nishimura syndrome; GIKANIS|polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia MONDO:0010871 succinic acidemia biolink:Disease mondo OMIM:600335|UMLS:C1838243|Orphanet:936|MESH:C563952 UMLS:C1838243|ORPHA:936|MESH:C563952|http://identifiers.org/omim/600335 http://purl.obolibrary.org/obo/MONDO_0010871 succinic acidemia MONDO:0010870 tibial muscular dystrophy biolink:Disease mondo UMLS:C1838244|OMIM:600334|Orphanet:609|ICD10:G71.0|DOID:0111078|UMLS:C1450052|SCTID:698846009 Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life. DOID:0111078|UMLS:C1838244|UMLS:C1450052|ORPHA:609|MESH:C536815|SNOMEDCT:698846009|http://identifiers.org/omim/600334 http://purl.obolibrary.org/obo/MONDO_0010870 distal myopathy, Udd type|tibial muscular dystrophy, tardive; TMD|Finnish tibial muscular dystrophy|Udd type distal myopathy|Udd myopathy|distal titinopathy|tibial muscular dystrophy, tardive|TMD|Tmd|tardive tibial muscular dystrophy ordo_disease MONDO:0019207 DEND syndrome biolink:Disease mondo SCTID:721088003|ICD10:P70.2|Orphanet:79134|UMLS:C1853564|UMLS:C4303593|NCIT:C131845 DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. NCIT:C131845|UMLS:C1853564|SNOMEDCT:721088003|ORPHA:79134|UMLS:C4303593 http://purl.obolibrary.org/obo/MONDO_0019207 developmental delay-epilepsy-neonatal diabetes syndrome|K ATP associated developmental delay, epilepsy and neonatal diabetes ordo_disease MONDO:0010873 band heterotopia of brain biolink:Disease mondo MESH:C563950|UMLS:C1838239|OMIM:600348 UMLS:C1838239|MESH:C563950|http://identifiers.org/omim/600348 http://purl.obolibrary.org/obo/MONDO_0010873 band heterotopia of brain|band heterotopia; BH|BH MONDO:0010872 PDDP biolink:Disease mondo OMIM:600343 http://identifiers.org/omim/600343 http://purl.obolibrary.org/obo/MONDO_0010872 PDDP|parotid salivary glands, polycystic dysgenetic disease OF|parotid salivary glands, polycystic dysgenetic disease OF; PDDP MONDO:0019206 sparse hair-short stature-skin anomalies syndrome biolink:Disease mondo Orphanet:79132|UMLS:CN205797 Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. UMLS:CN205797|ORPHA:79132 http://purl.obolibrary.org/obo/MONDO_0019206 ordo_malformation_syndrome MONDO:0019209 Japanese encephalitis biolink:Disease mondo MESH:D004672|Orphanet:79139|GARD:0006797|NCIT:C34577|EFO:0007332|UMLS:C0014057|ICD9:062.0|SCTID:52947006|MedDRA:10014596|DOID:10844|ICD10:A83.0 A disease due to a virus transmitted by an arthropod). SNOMEDCT:52947006|MEDDRA:10014596|MESH:D004672|DOID:10844|UMLS:C0014057|NCIT:C34577|ORPHA:79139 http://purl.obolibrary.org/obo/MONDO_0019209 Japanese B encephalitis|JE ordo_disease|gard_rare MONDO:0010875 pachydermodactyly, familial biolink:Disease mondo OMIM:600356|MESH:C563947|UMLS:C1838218 UMLS:C1838218|MESH:C563947|http://identifiers.org/omim/600356 http://purl.obolibrary.org/obo/MONDO_0010875 pachydermodactyly, familial RO:0002314 inheres in part of biolink:OntologyClass mondo q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w. http://purl.obolibrary.org/obo/RO_0002314 MONDO:0019208 Bickerstaff brainstem encephalitis biolink:Disease mondo Orphanet:79138|ICD9:323.81|ICD10:G61.0|UMLS:C1960543|SCTID:427086003 Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma). UMLS:C1960543|SNOMEDCT:427086003|ORPHA:79138 http://purl.obolibrary.org/obo/MONDO_0019208 ordo_disease MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency biolink:Disease mondo MESH:C563949|OMIM:600351|UMLS:C1838238 UMLS:C1838238|MESH:C563949|http://identifiers.org/omim/600351 http://purl.obolibrary.org/obo/MONDO_0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency MONDO:0019203 acute interstitial pneumonia biolink:Disease mondo ICD10:J84.1|GARD:0012835|Orphanet:79126|NCIT:C35806|ICD9:516.33|DOID:2800|ICD10:J84.114|UMLS:C1279945|COHD:4341520|MedDRA:10066728|SCTID:236302005 Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia. DOID:2800|MEDDRA:10066728|UMLS:C0085786|NCIT:C35806|SNOMEDCT:236302005|UMLS:C1279945|ORPHA:79126 http://purl.obolibrary.org/obo/MONDO_0019203 AIP|Hamman-rich disease|idiopathic pulmonary fibrosis, acute fatal form|accelerated interstitial pneumonia|Hamman-rich syndrome|acute interstitial pneumonitis ordo_disease UBERON:5102544 individual digit of digitopodial skeleton biolink:AnatomicalEntity mondo A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_5102544 digit skeleton|digit MONDO:0019202 myxofibrosarcoma biolink:Disease mondo SCTID:253042009|ICDO:8811/3|ONCOTREE:MFS|ICD10:C49.9|MedDRA:10066948|NCIT:C6496|Orphanet:79105 A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. MEDDRA:10066948|ORPHA:79105|NCIT:C6496|SNOMEDCT:253042009 http://purl.obolibrary.org/obo/MONDO_0019202 myxofibrosarcoma|MFS|fibromyxosarcoma|myxoid malignant fibrous histiocytoma|myxoid fibrous histiocytoma|myxoid MFH ordo_disease HGNC:17158 PLD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/17158 MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome biolink:Disease mondo Orphanet:79129|UMLS:CN205796 The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked. UMLS:CN205796|ORPHA:79129 http://purl.obolibrary.org/obo/MONDO_0019205 ordo_malformation_syndrome MONDO:0022846 congenital nonhemolytic jaundice biolink:Disease mondo GARD:0006177 http://purl.obolibrary.org/obo/MONDO_0022846 gard_rare MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome biolink:Disease mondo ICD10:J68.4|MedDRA:10066393|Orphanet:79127|UMLS:CN205794 Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening. UMLS:CN205794|MEDDRA:10066393|UMLS:C1735355|ORPHA:79127|UMLS:C1276236 http://purl.obolibrary.org/obo/MONDO_0019204 RB-ILD ordo_disease MONDO:0022849 congenital stenosis of cervical medullary canal biolink:Disease mondo GARD:0001504 http://purl.obolibrary.org/obo/MONDO_0022849 gard_rare MONDO:0019201 thyrotoxic periodic paralysis biolink:Disease mondo MedDRA:10043788|DC:0000438|Orphanet:79102|GARD:0010814|UMLS:C0268446|ICD10:G72.3|OMIMPS:188580|SCTID:30967002 Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. MEDDRA:10043788|UMLS:C0268446|ORPHA:79102|SNOMEDCT:30967002 http://purl.obolibrary.org/obo/MONDO_0019201 thyrotoxic hypokalemic periodic paralysis gard_rare|ordo_disease MONDO:0019200 retinitis pigmentosa biolink:Disease mondo DOID:10584|SCTID:28835009|MedDRA:10038914|ICD10:H35.52|UMLS:C0035334|OMIM:268000|GARD:0005694|Orphanet:791|NCIT:C85045|OMIMPS:268000|UMLS:C4072872|MESH:D012174|ICD10:H35.5 Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. DOID:10584|SNOMEDCT:28835009|MEDDRA:10038914|MESH:D012174|http://identifiers.org/omim/268000|ORPHA:791|NCIT:C85045|UMLS:C0035334|UMLS:C4072872 http://purl.obolibrary.org/obo/MONDO_0019200 pericentral pigmentary retinopathy|Rod-cone dystrophy clingen|prototype_pattern|ordo_disease MONDO:0007209 Weismann-Netter syndrome biolink:Disease mondo ICD10:Q77.8|SCTID:715532007|Orphanet:3344|MESH:C537082|UMLS:C1862172|GARD:0005232|OMIM:112350 Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated. ORPHA:3344|UMLS:C1862172|MESH:C537082|http://identifiers.org/omim/112350|SNOMEDCT:715532007 http://purl.obolibrary.org/obo/MONDO_0007209 Toxopachyosteose Diaphysaire Tibio-Peroniere|bowing of legs, anterior, with dwarfism|bowing of legs, anterior with dwarfism|Weismann Netter syndrome|anterior bowing of legs with dwarfism|Weismann-Netter syndrome|WEISMANN-NETTER syndrome; WNS|WNS|Weismann-Netter-Stuhl syndrome ordo_malformation_syndrome HGNC:20772 TUBB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/20772 FOODON:03401270 U.S. code of federal regulations, title 21 food product type biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=A1270 Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL. http://purl.obolibrary.org/obo/FOODON_03401270 HP:0100786 Hypersomnia biolink:PhenotypicFeature mondo UMLS:C0917799|SNOMEDCT_US:77692006|MSH:D006970 http://purl.obolibrary.org/obo/HP_0100786 Excessive sleepiness HGNC:20773 TUBB8 biolink:OntologyClass mondo http://identifiers.org/hgnc/20773 MONDO:0007207 Böök syndrome biolink:Disease mondo SCTID:722296002|OMIM:112300|ICD10:Q82.4|UMLS:C0457014|MESH:C562993|Orphanet:1262|GARD:0000932 Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. UMLS:C0457014|SNOMEDCT:722296002|MESH:C562993|http://identifiers.org/omim/112300|ORPHA:1262 http://purl.obolibrary.org/obo/MONDO_0007207 Böök syndrome|PHC syndrome|premolar aplasia, hyperhidrosis, and canities prematura|book syndrome ordo_malformation_syndrome MONDO:0007208 Boomerang dysplasia biolink:Disease mondo MESH:C536573|ICD10:Q87.1|DOID:0050680|UMLS:C0432201|GARD:0000933|OMIM:112310|Orphanet:1263|ICD9:756.9|SCTID:254054000 Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. DOID:0050680|MESH:C536573|UMLS:C0432201|SNOMEDCT:254054000|ORPHA:1263|http://identifiers.org/omim/112310 http://purl.obolibrary.org/obo/MONDO_0007208 Boomerang-like skeletal dysplasia|dwarfism with short, bowed, rigid limbs and characteristic facies|Boomerang dysplasia gard_rare|ordo_disease MONDO:0009869 isolated Pierre-Robin syndrome biolink:Disease mondo MESH:D010855|GARD:0004354|GARD:0004347|ICD10:Q87.0|NCIT:C85010|SCTID:4602007|Orphanet:718|OMIM:261800 Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft. NCIT:C85010|SNOMEDCT:4602007|MESH:D010855|http://identifiers.org/omim/261800|ORPHA:718 http://purl.obolibrary.org/obo/MONDO_0009869 Pierre Robin syndrome; PRBNS|glossoptosis, micrognathia, and cleft palate|isolated Pierre Robin syndrome|Pierre-Robin syndrome|syndrome, Pierre-Robin|Pierre Robin syndrome skeletal dysplasia polydactyly|syndrome, Pierre Robin|sequence, Pierre Robin|Robin sequence|Pierre Robin syndrome|sequence, Robin|sequence, Pierre Robin's|Robin syndrome, Pierre|Pierre Robin sequence|Pierre Robin's sequence|PRBNS|isolated Pierre Robin sequence|Pierre Robins sequence gard_rare|ordo_malformation_syndrome MONDO:0022841 congenital hypotrichosis milia biolink:Disease mondo GARD:0001488 http://purl.obolibrary.org/obo/MONDO_0022841 gard_rare MONDO:0009868 glycogen storage disease IXb biolink:Disease mondo MESH:C563008|Orphanet:79240|DOID:0111041|OMIM:261750|UMLS:C0543514|ICD10:E74.0 Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. MESH:C563008|UMLS:C0543514|DOID:0111041|http://identifiers.org/omim/261750|ORPHA:79240 http://purl.obolibrary.org/obo/MONDO_0009868 glycogenosis type IXb|glycogen storage disease IXb|PHKB-related glycogen storage disease type IX|glycogen storage disease due to liver and muscle phosphorylase kinase deficiency|glycogenosis type 9B|PHKB glycogen storage disease|glycogenosis due to liver and muscle phosphorylase kinase deficiency|glycogen storage disease type IXb|GSD9B|glycogen storage disease IXb; GSD9B|GSD type 9B|glycogenosis of liver and muscle, autosomal recessive|glycogen storage disease type 9B|GSD IXb|glycogen storage disease caused by mutation in PHKB|phosphorylase kinase deficiency of liver and muscle, autosomal recessive|GSD type IXb|GSD due to liver and muscle phosphorylase kinase deficiency ordo_disease MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome biolink:Disease mondo UMLS:C1862177|ICD10:M89.8|GARD:0010072|NCIT:C122660|Orphanet:85182|OMIM:112250 Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma). UMLS:C1300202|UMLS:C1862177|NCIT:C122660|http://identifiers.org/omim/112250|ORPHA:85182|MESH:C536169 http://purl.obolibrary.org/obo/MONDO_0007205 Hardcastle's syndrome|bone dysplasia-medullary fibrosarcoma syndrome|myopathy, limb-girdle, with bone fragility|DMSMFH|diaphyseal medullary stenosis with malignant fibrous histiocytoma|diaphyseal medullary stenosis with malignant fibrous histiocytoma; DMSMFH|DMS-MFH|Hardcastle syndrome|bone dysplasia with medullary fibrosarcoma|bone dysplasia with malignant fibrous histiocytoma|BDMF|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome ordo_disease MONDO:0022843 congenital mumps biolink:Disease mondo GARD:0001498 http://purl.obolibrary.org/obo/MONDO_0022843 gard_rare MONDO:0009867 lethal congenital glycogen storage disease of heart biolink:Disease mondo UMLS:C1849813|ICD10:G73.6*|GARD:0010728|MESH:C564888|ICD10:E74.0+|DOID:0090101|OMIM:261740|Orphanet:439854 Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene. MESH:C564888|UMLS:C1849813|ORPHA:439854|http://identifiers.org/omim/261740|DOID:0090101 http://purl.obolibrary.org/obo/MONDO_0009867 fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital nonlysosomal cardiac glycogenosis|glycogen storage disease of heart|glycogen storage disease caused by mutation in PRKAG2|phosphorylase kinase deficiency of heart|glycogen storage disease of heart, lethal congenital|fatal congenital hypertrophic cardiomyopathy due to GSD|PRKAG2 glycogen storage disease|fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease ordo_disease MONDO:0007206 bone pain, periodic biolink:Disease mondo OMIM:112270 http://identifiers.org/omim/112270 http://purl.obolibrary.org/obo/MONDO_0007206 bone pain, periodic MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic biolink:Disease mondo GARD:0004278|OMIM:261680|Orphanet:79316 PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2). http://identifiers.org/omim/261680|ORPHA:79316 http://purl.obolibrary.org/obo/MONDO_0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic; PCKDC|phosphopyruvate carboxylase deficiency|PCK1 deficiency, cytosolic|phosphoenolpyruvate carboxykinase deficiency|PEPCK1 deficiency|PEP carboxykinase deficiency|PCKDC|phosphoenolpyruvate carboxykinase deficiency, cytosolic|PEPCK deficiency, cytosolic|phosphoenolpyruvate carboxylase deficiency|PEPCK 1 deficiency|phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency gard_rare MONDO:0010855 short tarsus-absence of lower eyelashes syndrome biolink:Disease mondo GARD:0000296|OMIM:600269|ICD10:Q87.2|UMLS:C1838328|Orphanet:2832|MESH:C537036|SCTID:721075001 Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. http://identifiers.org/omim/600269|SNOMEDCT:721075001|MESH:C537036|ORPHA:2832|UMLS:C1838328 http://purl.obolibrary.org/obo/MONDO_0010855 Lopes-Gorlin syndrome|Lopes Gorlin syndrome|short tarsus absence of lower eyelashes|short tarsus with absence of LOWER eyelashes|short tarsus with absence of LOWER eyelashes; stale|stale ordo_malformation_syndrome MONDO:0007203 blue rubber bleb nevus biolink:Disease mondo MESH:C536240|OMIM:112200|Orphanet:1059|GARD:0005940|NCIT:C4486|ICD10:Q27.8|SCTID:254784002|UMLS:C0346072 Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. NCIT:C4486|UMLS:C0346072|ORPHA:1059|http://identifiers.org/omim/112200|MESH:C536240|SNOMEDCT:254784002 http://purl.obolibrary.org/obo/MONDO_0007203 BRBN|blue rubber bleb nevus|bean syndrome|blue rubber bleb nevus syndrome|BRBNS ordo_malformation_syndrome MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency biolink:Disease mondo MESH:C536176|ICD10:E74.0|OMIM:261670|GARD:0009964|SCTID:61772003|Orphanet:97234|NCIT:C131647 A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. SNOMEDCT:61772003|ORPHA:97234|http://identifiers.org/omim/261670|MESH:C536176|NCIT:C131647 http://purl.obolibrary.org/obo/MONDO_0009865 glycogen storage disease 10|GSD 10|myopathy due to Phosphoglycerate mutase deficiency|Phosphoglycerate mutase deficiency|glycogen storage disease type 10|myopathy due to phosphoglycerate mutase deficiency|glycogen storage disease X; GSD10|GSDX|PGAM2 glycogen storage disease|glycogenosis due to phosphoglycerate mutase deficiency|PGAM deficiency|GSD10|PGAMM deficiency|GSD due to phosphoglycerate mutase deficiency|glycogen storage disease caused by mutation in PGAM2|GSD type 10|Phosphoglycerate mutase, muscle, deficiency of|glycogen storage disease X|muscle phosphoglycerate mutase deficiency ordo_disease MONDO:0007204 Cole-Carpenter syndrome 1 biolink:Disease mondo UMLS:C4317154|UMLS:CN029402|OMIM:112240 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene. UMLS:CN029402|UMLS:C4317154|http://identifiers.org/omim/112240 http://purl.obolibrary.org/obo/MONDO_0007204 Cole-Carpenter syndrome caused by mutation in P4HB|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features|P4HB Cole-Carpenter syndrome|Cole-Carpenter syndrome 1|COLE-CARPENTER syndrome 1; CLCRP1|CLCRP1|Cole-Carpenter syndrome type 1 MONDO:0010854 Toriello-Lacassie-Droste syndrome biolink:Disease mondo OMIM:600268|Orphanet:3339|GARD:0010366|UMLS:C1838329|MESH:C563969|SCTID:723554006 Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital. ORPHA:3339|http://identifiers.org/omim/600268|UMLS:C1838329|MESH:C563969|SNOMEDCT:723554006 http://purl.obolibrary.org/obo/MONDO_0010854 oculoectodermal syndrome; oes|oculoectodermal syndrome|oculo-ectodermal syndrome|oes|aplasia cutis congenita-epibulbar dermoids syndrome|aplasia cutis congenita with epibulbar dermoids|Toriello Lacassie Droste syndrome ordo_malformation_syndrome HGNC:29105 PLEKHG5 biolink:OntologyClass mondo http://identifiers.org/hgnc/29105 MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial biolink:Disease mondo OMIM:261650|Orphanet:79317|UMLS:C1849821|MESH:C564890|GARD:0004279 MESH:C564890|UMLS:C1849821|http://identifiers.org/omim/261650|ORPHA:79317 http://purl.obolibrary.org/obo/MONDO_0009864 PEPCK2 deficiency|PEPCK2|phosphoenolpyruvate carboxykinase 2 deficiency|PCKDM|phosphoenolpyruvate carboxykinase deficiency, mitochondrial|phosphoenolpyruvate carboxykinase deficiency, mitochondrial; PCKDM|PCK2 deficiency|PEPCK 2 deficiency MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome biolink:Disease mondo MESH:C562419|DOID:14778|ICD10:Q10.3|OMIM:110100|Orphanet:126|SCTID:715391004|UMLS:C0220663|GARD:0000023 Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II). MESH:C562419|UMLS:C0220663|ORPHA:126|SNOMEDCT:715391004|http://identifiers.org/omim/110100|DOID:14778 http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome type 1|blepharophimosis syndrome type 1|BPES type 1|blepharophimosis, ptosis, epicanthus inversus with ovarian failure|BPES with premature ovarian failure|blepharophimosis types 1 and 2|BPES with ovarian failure|BPES|blepharophimosis, ptosis, and epicanthus inversus|blepharophimosis-epicanthus inversus-ptosis syndrome|BPES without ovarian failure|BPES, type 2|BPES, type 1|BPES with Duane retraction syndrome|blepharophimosis, ptosis, epicanthus inversus syndrome|BPES, type I, autosomal recessive|blepharophimosis, ptosis, and epicanthus inversus; BPES gard_rare|ordo_malformation_syndrome RO:0002310 exposure event or process biolink:OntologyClass mondo A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. http://purl.obolibrary.org/obo/RO_0002310 MONDO:0010857 semantic dementia biolink:Disease mondo OMIM:600274|GARD:0010792|Orphanet:100069|ICD10:G31.0 Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. http://identifiers.org/omim/600274|UMLS:C0338462|ORPHA:100069 http://purl.obolibrary.org/obo/MONDO_0010857 frontotemporal lobar Degeneration with Tau inclusions|Wilhelmsen-Lynch disease|frontotemporal dementia with Parkinsonism|frontotemporal dementia|frontotemporal lobe dementia|disinhibition-dementia-Parkinsonism-amyotrophy Complex|semantic primary progressive aphasia|multiple system tauopathy with presenile dementia|dementia, frontotemporal, with Parkinsonism|frontotemporal dementia; FTD|Pallidopontonigral Degeneration|Pick Complex|Ftdp17|Ftld with Tau inclusions|semantic variant PPA|FTD ordo_disease HGNC:29106 DDHD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29106 MONDO:0009863 BH4-deficient hyperphenylalaninemia A biolink:Disease mondo NCIT:C138171|DOID:0090106|OMIM:261640|GARD:5682|UMLS:C0878676|MESH:C535325|Orphanet:13|ICD10:E70.1|SCTID:237914002|GARD:0005682 An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. UMLS:C0878676|ORPHA:13|SNOMEDCT:237914002|http://identifiers.org/omim/261640|MESH:C535325|DOID:0090106|NCIT:C138171 http://purl.obolibrary.org/obo/MONDO_0009863 hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency|6-pyruvoyl tetrahydropterin synthase deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|Bh4-deficient hyperphenylalaninemia type A|hyperphenylalaninemia, BH4-deficient, type A|hyperphenylalaninemia, Bh4-deficient, type a|hyperphenylalanemia, BH4-deficient, A|hyperphenylalaninemia, BH4-deficient A|HPABH4A|tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency|PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included|PTS deficiency|hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency|hyperphenylalaninemia, BH4-deficient, A|hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency|hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency|hyperphenylalaninemia, BH4-deficient, A; HPABH4A ordo_clinical_subtype MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis biolink:Disease mondo UMLS:C1838327|Orphanet:88924|MESH:C536328|OMIM:600273|GARD:0009481|SCTID:765331004 Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). SNOMEDCT:765331004|http://identifiers.org/omim/600273|ORPHA:88924|MESH:C536328|UMLS:C1838327 http://purl.obolibrary.org/obo/MONDO_0010856 polycystic kidneys, severe infantile with tuberous sclerosis|chromosome 16P13.3 deletion syndrome, distal|polycystic kidney disease, infantile severe, with tuberous sclerosis|tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|polycystic kidney disease, infantile severe, with tuberous sclerosis; PKDTS|tuberous sclerosis polycystic kidney disease contiguous gene syndrome|PKDTS ordo_disease MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome biolink:Disease mondo SCTID:717915004|OMIM:110150|MESH:C536236|GARD:0000912|Orphanet:1259|ICD10:Q15.8|UMLS:C1862259 This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia. SNOMEDCT:717915004|UMLS:C1862259|ORPHA:1259|MESH:C536236|http://identifiers.org/omim/110150 http://purl.obolibrary.org/obo/MONDO_0007202 blepharoptosis, myopia, and ectopia lentis|blepharoptosis myopia ectopia lentis|dominantly inherited blepharoptosis, high myopia, and ectopia lentis ordo_disease MONDO:0009862 dihydropteridine reductase deficiency biolink:Disease mondo NCIT:C138173|SCTID:58256000|ICD10:E70.1|GARD:0004319|Orphanet:226|OMIM:261630 Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. SNOMEDCT:58256000|UMLS:C0268465|ORPHA:226|UMLS:C2936906|http://identifiers.org/omim/261630|MESH:C537896|NCIT:C138173 http://purl.obolibrary.org/obo/MONDO_0009862 hyperphenylalaninemia, BH4-deficient, C; HPABH4C|hyperphenylalaninemia, Bh4-deficient, type C|6,7-dihydropteridine reductase activity disease|hyperphenylalaninemia, BH4-deficient, C|dihydropteridine reductase deficiency|hyperphenylalaninemia, BH4-deficient C|Qdpr deficiency|quinoid dihydropteridine reductase deficiency|DHPR deficiency|phenylketonuria type 2|PKU type 2|hyperphenylalaninemia, BH-4-deficient, C|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency|disorder of 6,7-dihydropteridine reductase activity|HPABH4C|disorder of 6,7-dihydropteridine reductase activity|hyperphenylalaninemia due to dihydropteridine reductase deficiency ordo_clinical_subtype|gard_rare MONDO:0010859 atrioventricular septal defect 3 biolink:Disease mondo OMIM:600309|UMLS:C3275750 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene. UMLS:C3275750|http://identifiers.org/omim/600309 http://purl.obolibrary.org/obo/MONDO_0010859 GJA1 atrioventricular septal defect|atrioventricular septal defect caused by mutation in GJA1|AVSD3|atrioventricular septal defect 3|atrioventricular septal defect type 3|atrioventricular septal defect 3; AVSD3 MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome biolink:Disease mondo OMIM:600302|SCTID:716108004|ICD10:Q87.8|MESH:C563963|Orphanet:2429|UMLS:C1838281 Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. http://identifiers.org/omim/600302|SNOMEDCT:716108004|ORPHA:2429|UMLS:C1838281|MESH:C563963 http://purl.obolibrary.org/obo/MONDO_0010858 macrocephaly with spastic paraplegia and distinctive craniofacial appearance|Fryns macrocephaly ordo_malformation_syndrome MONDO:0009861 phenylketonuria biolink:Disease mondo MESH:D010661|GARD:0007383|SCTID:7573000|NCIT:C81315|UMLS:C0031485|MedDRA:10034872|Orphanet:716|OMIM:261600|ICD10:E70.1|DOID:9281|ICD10:E70.0|ICD9:270.1 Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. DOID:9281|UMLS:C0031485|NCIT:C81315|http://identifiers.org/omim/261600|ORPHA:716|MEDDRA:10034872|SNOMEDCT:7573000|MESH:D010661 http://purl.obolibrary.org/obo/MONDO_0009861 PKU|Folling's syndrome|hyperphenylalaninemia, non-PKU mild|phenylketonuria; PKU|phenylketonuria, maternal|oligophrenia Phenylpyruvica|oligophrenia phenylpyruvica|phenylketonuria|imbecilitus phenylpyruvica|HPA, non-PKU mild|Følling's disease|phenylpyruvic oligophrenia|Folling disease|phenylalanine hydroxylase deficiency|phenylalaninemia|Pah deficiency|pah deficiency|Folling's disease|maternal phenylketonuria|PAH deficiency clingen|ordo_disease MONDO:0007200 blepharonasofacial malformation syndrome biolink:Disease mondo ICD10:Q87.0|Orphanet:1252|SCTID:717913006|OMIM:110050|GARD:0004238|MESH:C536303|UMLS:C0796197 Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. UMLS:C0796197|ORPHA:1252|SNOMEDCT:717913006|MESH:C536303|http://identifiers.org/omim/110050 http://purl.obolibrary.org/obo/MONDO_0007200 Pashayan syndrome|blepharonasofacial malformation syndrome|Pashayan-Prozansky syndrome gard_rare|ordo_malformation_syndrome HGNC:29101 ANKLE2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29101 MONDO:0009860 phenformin 4-hydroxylation biolink:Disease mondo OMIM:261590 http://identifiers.org/omim/261590 http://purl.obolibrary.org/obo/MONDO_0009860 phenformin 4-hydroxylation UBERON:0004088 orbital region biolink:AnatomicalEntity mondo The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present http://purl.obolibrary.org/obo/UBERON_0004088 orbital content|content of orbital part of eye|orbital part of eye|orbital part of face|ocular region|eye region|ocular and peri-ocular region RO:0002305 causally upstream of, negative effect biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002305 UBERON:0004089 midface biolink:AnatomicalEntity mondo The middle of the face including the nose and its associated bony structures[MW]. http://purl.obolibrary.org/obo/UBERON_0004089 lower face|midface/lower face|snout MONDO:0010860 autosomal recessive nonsyndromic deafness 3 biolink:Disease mondo MESH:C563961|DOID:0110488|UMLS:C1838263|ICD10:H90.3|OMIM:600316 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene. UMLS:C1838263|DOID:0110488|MESH:C563961|http://identifiers.org/omim/600316 http://purl.obolibrary.org/obo/MONDO_0010860 autosomal recessive nonsyndromic deafness type 3|MYO15A autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 3|deafness, autosomal recessive type 3|deafness, autosomal recessive 3; DFNB3|NRSD3|autosomal recessive nonsyndromic deafness caused by mutation in MYO15A|autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3|DFNB3|neurosensory nonsyndromic recessive deafness 3 UBERON:0004086 brain ventricle biolink:AnatomicalEntity mondo one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid http://purl.obolibrary.org/obo/UBERON_0004086 cerebral ventricle|region of ventricular system of brain|brain ventricles UBERON:0004087 vena cava biolink:AnatomicalEntity mondo Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/UBERON_0004087 caval vein|venae cavae MONDO:0010862 type 1 diabetes mellitus 4 biolink:Disease mondo ICD10:E10|UMLS:C1838261|DOID:0110743|MESH:C563959|OMIM:600319 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13. UMLS:C1838261|DOID:0110743|MESH:C563959|http://identifiers.org/omim/600319 http://purl.obolibrary.org/obo/MONDO_0010862 diabetes mellitus, insulin-dependent, 4|insulin-dependent diabetes mellitus 4|IDDM4|diabetes mellitus, insulin-dependent, 4; IDDM4 UBERON:0004084 genital labium biolink:AnatomicalEntity mondo One of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening. http://purl.obolibrary.org/obo/UBERON_0004084 labia|labium|genital labia GO:0042303 molting cycle biolink:OntologyClass mondo The periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin, etc. http://purl.obolibrary.org/obo/GO_0042303 UBERON:0004085 labium majora biolink:AnatomicalEntity mondo One of the folds of skin which form the outer lips on both sides of the vaginal opening http://purl.obolibrary.org/obo/UBERON_0004085 labium majus|labia majorum|labium majorum|labium majora|labium majus pudendi MONDO:0010861 type 1 diabetes mellitus 3 biolink:Disease mondo MESH:C563960|DOID:0110742|OMIM:600318|ICD10:E10|UMLS:C1838262 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26. UMLS:C1838262|DOID:0110742|MESH:C563960|http://identifiers.org/omim/600318 http://purl.obolibrary.org/obo/MONDO_0010861 diabetes mellitus, insulin-dependent, 3|insulin-dependent diabetes mellitus 3|IDDM3|diabetes mellitus, insulin-dependent, 3; IDDM3 HGNC:17129 SLC39A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/17129 MONDO:0010864 type 1 diabetes mellitus 7 biolink:Disease mondo OMIM:600321|UMLS:C1838259|ICD10:E10|DOID:0110746|MESH:C563957 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31. http://identifiers.org/omim/600321|UMLS:C1838259|DOID:0110746|MESH:C563957 http://purl.obolibrary.org/obo/MONDO_0010864 diabetes mellitus, insulin-dependent, 7; IDDM7|insulin-dependent diabetes mellitus 7|diabetes mellitus, insulin-dependent, 7|IDDM7 RO:0002303 has habitat biolink:OntologyClass mondo x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs. http://purl.obolibrary.org/obo/RO_0002303 GO:0042304 regulation of fatty acid biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. http://purl.obolibrary.org/obo/GO_0042304 regulation of fatty acid synthesis|regulation of fatty acid formation|regulation of fatty acid anabolism|regulation of fatty acid biosynthesis MONDO:0010863 type 1 diabetes mellitus 5 biolink:Disease mondo ICD10:E10|OMIM:600320|DOID:0110744|UMLS:C1838260|MESH:C563958 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene. http://identifiers.org/omim/600320|UMLS:C1838260|DOID:0110744|MESH:C563958 http://purl.obolibrary.org/obo/MONDO_0010863 IDDM5|type 1 diabetes mellitus caused by mutation in SUMO4|diabetes mellitus, insulin-dependent, 5; IDDM5|diabetes mellitus, insulin-dependent, type 5|diabetes mellitus, insulin-dependent, 5|insulin-dependent diabetes mellitus 5|SUMO4 type 1 diabetes mellitus RO:0002304 causally upstream of, positive effect biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002304 RO:0002309 has exposure stimulus biolink:OntologyClass mondo A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. http://purl.obolibrary.org/obo/RO_0002309 HGNC:30100 PSENEN biolink:OntologyClass mondo http://identifiers.org/hgnc/30100 MONDO:0022839 congenital human immunodeficiency virus biolink:Disease mondo GARD:0010328|UMLS:C0520783 UMLS:C0520783 http://purl.obolibrary.org/obo/MONDO_0022839 congenital HIV|neonatal HIV|neonatal human immunodeficiency virus gard_rare HP:0100799 Neoplasm of the middle ear biolink:PhenotypicFeature mondo UMLS:C0345617|SNOMEDCT_US:127006003|NCIT:C3262 A tumor (abnormal growth of tissue) of the middle ear. http://purl.obolibrary.org/obo/HP_0100799 Neoplasia of the middle ear|Middle ear tumor MONDO:0007218 brachydactyly type A4 biolink:Disease mondo GARD:0000990|SCTID:715721005|MESH:C537097|ICD10:Q73.8|DOID:0110967|OMIM:112800|Orphanet:93394 Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit. DOID:0110967|ORPHA:93394|SNOMEDCT:715721005|MESH:C537097|http://identifiers.org/omim/112800 http://purl.obolibrary.org/obo/MONDO_0007218 Temtamy type brachydactyly|brachydactyly Temtamy type|brachydactyly, type A4|brachydactyly, type A4; BDA4|Brachymesophalangy 2 and 5|BDA4|Brachymesophalangy II and V|brachymesophalangy II and V|brachydactyly, Temtamy type gard_rare|ordo_malformation_syndrome MONDO:0007219 brachydactyly type A6 biolink:Disease mondo Orphanet:93382|MESH:C537092|SCTID:715722003|UMLS:C1862130|ICD10:Q73.8|DOID:0110968|GARD:0000983|OMIM:112910 Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. DOID:0110968|SNOMEDCT:715722003|ORPHA:93382|UMLS:C1862130|MESH:C537092|http://identifiers.org/omim/112910 http://purl.obolibrary.org/obo/MONDO_0007219 brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|BDA6|Osebold-Remondini syndrome|brachydactyly, type A6|Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|OSEBOLD-Remondini syndrome ordo_malformation_syndrome|gard_rare MONDO:0007216 brachydactyly type A2 biolink:Disease mondo OMIM:112600|GARD:0000979|GARD:0000989|Orphanet:93396|SCTID:720569006|DOID:0110965|MESH:C537089|ICD10:Q73.8 Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger. DOID:0110965|ORPHA:93396|MESH:C537089|SNOMEDCT:720569006|http://identifiers.org/omim/112600|UMLS:C1832702 http://purl.obolibrary.org/obo/MONDO_0007216 Brachymesophalangy 2|Mohr-Wriedt type brachydactyly|brachydactyly, Mohr-Wriedt type|brachydactyly, type A2|brachydactyly, type A2; BDA2|brachymesophalangy II|Brachymesophalangy type 2|BDA2 gard_rare|ordo_malformation_syndrome MONDO:0022831 congenital heart disease ptosis hypodontia craniostosis biolink:Disease mondo GARD:0001483 http://purl.obolibrary.org/obo/MONDO_0022831 gard_rare MONDO:0009879 short stature due to growth hormone qualitative anomaly biolink:Disease mondo Orphanet:629|OMIM:262650|ICD10:E23.0|GARD:0000408|MESH:C537505|UMLS:C1849779 Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. UMLS:C1849779|http://identifiers.org/omim/262650|MESH:C537505|ORPHA:629 http://purl.obolibrary.org/obo/MONDO_0009879 pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin|KOWARSKI syndrome|Biodefective Growth hormone|Kowarski syndrome ordo_clinical_subtype MONDO:0007217 brachydactyly type A3 biolink:Disease mondo OMIM:112700|UMLS:C1862140|GARD:0000963|DOID:0110966|MESH:C537090 DOID:0110966|UMLS:C1862140|MESH:C537090|http://identifiers.org/omim/112700 http://purl.obolibrary.org/obo/MONDO_0007217 brachymesophalangy V|brachydactyly, type A3|brachydactyly, type A3; BDA3|brachydactyly-clinodactyly|BDA3|Brachymesophalangy 5 gard_rare MONDO:0009878 pituitary hormone deficiency, combined, 2 biolink:Disease mondo OMIM:262600|UMLS:C0878683 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene. UMLS:C0878683|http://identifiers.org/omim/262600 http://purl.obolibrary.org/obo/MONDO_0009878 CPHD2|PROP1 combined pituitary hormone deficiencies, genetic form|ateliotic dwarfism with hypogonadism|pituitary hormone deficiency, combined, type 2|combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1|pituitary hormone deficiency, combined, 2|pituitary hormone deficiency, combined, 2; CPHD2|Hanhart dwarfism|pituitary dwarfism 3|panhypopituitarism MONDO:0022832 congenital heart disease radio ulnar synostosis mental retardation biolink:Disease mondo GARD:0001484 http://purl.obolibrary.org/obo/MONDO_0022832 gard_rare HGNC:20788 RHBDF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/20788 HP:0100790 Hernia biolink:PhenotypicFeature mondo MSH:D006547|UMLS:C0019270|SNOMEDCT_US:52515009|SNOMEDCT_US:414403008 http://purl.obolibrary.org/obo/HP_0100790 Hernias MONDO:0009877 Laron syndrome biolink:Disease mondo MESH:D046150|DOID:9521|NCIT:C130994|OMIM:262500|Orphanet:633|GARD:0006859|SCTID:38196001|ICD10:E34.3 Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. MESH:D046150|NCIT:C130994|DOID:9521|SNOMEDCT:38196001|http://identifiers.org/omim/262500|ORPHA:633 http://purl.obolibrary.org/obo/MONDO_0009877 Laron dwarfism|growth hormone insensitivity syndrome|primary GH resistance|primary GH insensitivity|Laron syndrome|pituitary dwarfism II|Laron-type dwarfism|short stature due to growth hormone resistance|Laron-type isolated somatotropin defect|primary growth hormone insensitivity|Growth hormone receptor deficiency|primary growth hormone resistance|pituitary dwarfism 2|Laron type pituitary dwarfism I|GH receptor deficiency|complete growth hormone insensitivity ordo_disease MONDO:0007214 brachydactyly-preaxial hallux varus syndrome biolink:Disease mondo DOID:0110962|UMLS:C1862162|ICD10:Q73.8|MESH:C537087|OMIM:112450|GARD:0000972|Orphanet:1278 Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. DOID:0110962|UMLS:C1862162|MESH:C537087|ORPHA:1278|http://identifiers.org/omim/112450 http://purl.obolibrary.org/obo/MONDO_0007214 brachydactyly preaxial with hallux varus and thumb abduction|Christian brachydactyly|dominant preaxial brachydactyly with hallux varus and thumb abduction|brachydactyly, preaxial, with hallux varus and thumb abduction|preaxial brachydactyly with hallux varus and thumb abduction ordo_malformation_syndrome MONDO:0044203 foveal hypoplasia biolink:Disease mondo OMIMPS:136520 http://purl.obolibrary.org/obo/MONDO_0044203 FVH MONDO:0010844 epiphyseal dysplasia, multiple, 2 biolink:Disease mondo UMLS:C1838429|GARD:0009791|OMIM:600204|MESH:C535502|DOID:0070298 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene. DOID:0070298|http://identifiers.org/omim/600204|UMLS:C1838429|MESH:C535502 http://purl.obolibrary.org/obo/MONDO_0010844 epiphyseal dysplasia, multiple, type 2|epiphyseal dysplasia, multiple, 2; EDM2|COL9A2 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia multiple 2|EDM2|multiple epiphyseal dysplasia 2|epiphyseal dysplasia, multiple, 2|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2 gard_rare GO:0042310 vasoconstriction biolink:OntologyClass mondo A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure. http://purl.obolibrary.org/obo/GO_0042310 negative regulation of blood vessel size MONDO:0007215 brachydactyly type A1 biolink:Disease mondo SCTID:715720006|UMLS:C1862151|MESH:C537088|Orphanet:93388|ICD10:Q73.8|GARD:0000978|DOID:0110964 Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. DOID:0110964|ORPHA:93388|SNOMEDCT:715720006|UMLS:C1862151|MESH:C537088|http://identifiers.org/omim/112500 http://purl.obolibrary.org/obo/MONDO_0007215 brachydactyly, type A1|brachydactyly, Farabee type|brachydactyly, type A1; BDA1|Farabee type brachydactyly|Farabee-type brachydactyly|brachydactyly Farabee type|BDA1 gard_rare|ordo_malformation_syndrome MONDO:0009876 isolated growth hormone deficiency type IA biolink:Disease mondo ICD10:E23.0|GARD:0007399|OMIM:262400|SCTID:237837007|DOID:0060873|MESH:C537404|Orphanet:231662|ICD9:259.4 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3. DOID:0060873|http://identifiers.org/omim/262400|ORPHA:231662|MESH:C537404|SNOMEDCT:237837007 http://purl.obolibrary.org/obo/MONDO_0009876 Growth hormone deficiency, isolated autosomal recessive|isolated Growth hormone deficiency, type 1A|IGHD IA|Illig-type growth hormone deficiency|isolated growth hormone deficiency type IA|congenital isolated GH deficiency type IA|non-acquired isolated growth hormone deficiency|pituitary dwarfism 1|congenital IGHD|IGHD 1A|autosomal recessive isolated growth hormone deficiency|pituitary dwarfism I|congenital isolated growth hormone deficiency|isolated growth hormone deficiency, type IA; IGHD1A|congenital IGHD type IA|sexual ateleiotic dwarfism|ILLIG type growth hormone deficiency|Growth hormone deficiency, isolated, autosomal recessive|congenital isolated growth hormone deficiency type IA|IGHD1A|Illig-type Growth hormone deficiency|congenital isolated GH deficiency|isolated growth hormone deficiency, type IA|isolated growth hormone deficiency type 1A|primordial dwarfism ordo_clinical_subtype|gard_rare MONDO:0044202 episodic kinesigenic dyskinesia biolink:Disease mondo OMIMPS:128200 http://purl.obolibrary.org/obo/MONDO_0044202 EKD MONDO:0010843 dyslexia, susceptibility to, 2 biolink:Disease mondo OMIM:600202 http://identifiers.org/omim/600202 http://purl.obolibrary.org/obo/MONDO_0010843 dyslexia, susceptibility to, 2; DYX2|dyslexia, susceptibility to, 2|reading disability, specific, 2|DYX2 predisposition MONDO:0010846 EXT3 biolink:Disease mondo UMLS:C1838420|OMIM:600209|MESH:C563975|GARD:0002206 MESH:C563975|http://identifiers.org/omim/600209|UMLS:C1838420 http://purl.obolibrary.org/obo/MONDO_0010846 exostoses, multiple, type 3|EXT3|exostoses, multiple, type III|exostoses, multiple, type III; EXT3 gard_rare MONDO:0009875 achromatopsia 3 biolink:Disease mondo UMLS:C1849792|GARD:0009650|DOID:0110008|OMIM:262300 Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene. UMLS:C1849792|http://identifiers.org/omim/262300|DOID:0110008 http://purl.obolibrary.org/obo/MONDO_0009875 ACHM3|achromatopsia 3; ACHM3|ACHM1|rod monochromacy 1|CNGB3 achromatopsia|RMCH1 (formerly)|total colorblindness with myopia|Rod monochromatism 1 (formerly)|rod monochromatism 1|rod monochromatism 1, formerly|achromatopsia caused by mutation in CNGB3|achromatopsia type 3|achromatopsia 3|RMCH1|Pingelapese blindness|Rod monochromacy 1 (formerly)|achromatopsia with myopia|ACHM1 (formerly)|ACHM1, formerly|rod monochromacy 1, formerly MONDO:0007212 brachydactyly-long thumb syndrome biolink:Disease mondo Orphanet:2946|GARD:0000968|SCTID:733454004|UMLS:C1862169|MESH:C566204|OMIM:112430|ICD10:Q87.2 Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981. UMLS:C1862169|MESH:C566204|http://identifiers.org/omim/112430|ORPHA:2946|SNOMEDCT:733454004 http://purl.obolibrary.org/obo/MONDO_0007212 brachydactyly, long thumb type|long-thumb brachydactyly syndrome|brachydactyly, long-thumb type|brachydactyly long thumb type gard_rare|ordo_malformation_syndrome MONDO:0044205 Shwachman-Diamond syndrome 2 biolink:Disease mondo OMIM:617941|UMLS:CN244554 Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400). http://identifiers.org/omim/617941|UMLS:CN244554 http://purl.obolibrary.org/obo/MONDO_0044205 SDS2|Shwachman-Diamond syndrome 2; SDS2 MONDO:0007213 Ballard syndrome biolink:Disease mondo Orphanet:93395|SCTID:722298001|GARD:0000959|OMIM:112440|MESH:C537094|UMLS:C1862163|DOID:0110963|ICD10:Q73.8 Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. DOID:0110963|ORPHA:93395|UMLS:C1862163|MESH:C537094|SNOMEDCT:722298001|http://identifiers.org/omim/112440 http://purl.obolibrary.org/obo/MONDO_0007213 Pitt Williams brachydactyly|Ballard type brachydactyly|brachydactyly, Ballard type|brachydactyly combined B and E types|brachydactyly types B and E combined|Pitt-Williams brachydactyly|brachydactyly Ballard type|brachydactyly, combined B and E types ordo_malformation_syndrome MONDO:0009874 Rabson-Mendenhall syndrome biolink:Disease mondo ICD10:E13|UMLS:C0271695|NCIT:C131000|GARD:0000226|ICD9:259.8|Orphanet:769|OMIM:262190|SCTID:33559001 Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes). http://identifiers.org/omim/262190|UMLS:C0271695|MESH:D056731|ORPHA:769|NCIT:C131000|SNOMEDCT:33559001 http://purl.obolibrary.org/obo/MONDO_0009874 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities|Rabson-Mendenhall syndrome|Mendenhall syndrome ordo_malformation_syndrome|gard_rare MONDO:0044204 Shwachman-Diamond syndrome 1 biolink:Disease mondo OMIM:260400 http://identifiers.org/omim/260400 http://purl.obolibrary.org/obo/MONDO_0044204 pancreatic insufficiency and bone marrow dysfunction|lipomatosis of pancreas, congenital|Shwachman-Bodian syndrome|Shwachman-Diamond syndrome 1; SDS1|SDS1|Shwachman-Diamond syndrome MONDO:0010845 obsolete macrothrombocytopenia and progressive sensorineural deafness biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010845 MONDO:0009873 pilodental dysplasia-refractive errors syndrome biolink:Disease mondo UMLS:C1849805|OMIM:262020|Orphanet:2892|MESH:C535763|GARD:0000277 Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. http://identifiers.org/omim/262020|ORPHA:2892|MESH:C535763|UMLS:C1849805 http://purl.obolibrary.org/obo/MONDO_0009873 Euhidrotic ectodermal dysplasia|PILODENTAL dysplasia with refractive errors|Kopysc-Barczyk-Krol syndrome|Trichodental dysplasia with hyperopia ordo_malformation_syndrome MONDO:0010848 spinocerebellar ataxia type 5 biolink:Disease mondo Orphanet:98766|OMIM:600224|SCTID:719302009|UMLS:C0752123|ICD10:G11.2|DOID:0050882|GARD:0004953 Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. SNOMEDCT:719302009|http://identifiers.org/omim/600224|UMLS:C0752123|ORPHA:98766|DOID:0050882 http://purl.obolibrary.org/obo/MONDO_0010848 spinocerebellar ataxia type 5|spinocerebellar ataxia 5|SCA5|spinocerebellar ataxia 5; SCA5 ordo_disease MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay biolink:Disease mondo UMLS:C1862171|MESH:C566206|OMIM:112370 UMLS:C1862171|MESH:C566206|http://identifiers.org/omim/112370 http://purl.obolibrary.org/obo/MONDO_0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay MONDO:0007211 brachydactyly-arterial hypertension syndrome biolink:Disease mondo OMIM:112410|GARD:0000967|Orphanet:1276|MESH:C537095|SCTID:720568003|UMLS:C1862170|ICD10:Q73.8 Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50. UMLS:C1862170|ORPHA:1276|MESH:C537095|http://identifiers.org/omim/112410|SNOMEDCT:720568003 http://purl.obolibrary.org/obo/MONDO_0007211 brachydactyly type E, with short stature and hypertension|brachydactyly with hypertension|hypertension and brachydactyly syndrome; HTNB|brachydactyly type E with short stature and hypertension|brachydactyly, type E, with short stature and hypertension|hypertension and brachydactyly syndrome|Bilginturan syndrome|HTNB|Bilginturan brachydactyly ordo_malformation_syndrome MONDO:0010847 spinocerebellar ataxia type 4 biolink:Disease mondo Orphanet:98765|DOID:0050957|UMLS:C0752122|OMIM:600223|GARD:0009970|ICD10:G11.2|SCTID:715755008 Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy. http://identifiers.org/omim/600223|UMLS:C0752122|SNOMEDCT:715755008|ORPHA:98765|DOID:0050957 http://purl.obolibrary.org/obo/MONDO_0010847 spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy|spinocerebellar ataxia 4|spinocerebellar ataxia 4; SCA4|SCA4|spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy ordo_disease MONDO:0009872 Bjornstad syndrome biolink:Disease mondo UMLS:C0266006|EFO:0002779|DOID:0050677|MESH:C537633|Orphanet:123|GARD:0000022|OMIM:262000 Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome. http://identifiers.org/omim/262000|UMLS:C0266006|ORPHA:123|MESH:C537633|DOID:0050677 http://purl.obolibrary.org/obo/MONDO_0009872 pili torti-sensorineural hearing loss|BJS|BJörnstad syndrome|PTND|deafness and pili torti, Bjornstad type|Bjornstad syndrome; BJS|PTD|deafness-pili torti-hypogonadism syndrome|pili torti and nerve deafness|Bjornstad syndrome gard_rare|ordo_disease MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome biolink:Disease mondo GARD:0004362|UMLS:C1849811|Orphanet:2891|MESH:C537398|OMIM:261990 Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. MESH:C537398|ORPHA:2891|http://identifiers.org/omim/261990|UMLS:C1849811 http://purl.obolibrary.org/obo/MONDO_0009871 pili torti developmental delay neurological abnormalities|pili torti and developmental delay ordo_malformation_syndrome MONDO:0044201 T+ B+ severe combined immunodeficiency biolink:Disease mondo ICD10:D81.2|Orphanet:397802 ORPHA:397802 http://purl.obolibrary.org/obo/MONDO_0044201 T+B+ SCID|T-cell positive B-cell positive SCID ordo_group_of_disorders MONDO:0010849 palmoplantar keratoderma, Bothnian type biolink:Disease mondo GARD:0001862|OMIM:600231 http://identifiers.org/omim/600231 http://purl.obolibrary.org/obo/MONDO_0010849 PPKB|palmoplantar keratoderma, Bothnian type|palmoplantar keratoderma, Bothnian type; PPKB MONDO:0044200 T-B+ severe combined immunodeficiency biolink:Disease mondo Orphanet:317416|ICD10:D81.2 T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. ORPHA:317416 http://purl.obolibrary.org/obo/MONDO_0044200 T-B+ SCID|T-cell negative B-cell positive SCID ordo_group_of_disorders MONDO:0009870 pili torti (disease) biolink:Disease mondo SCTID:17170005|OMIM:261900|GARD:0004361|MESH:C562485|Orphanet:2889|ICD10:Q84.1|HP:0003777 Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome. ORPHA:2889|http://identifiers.org/omim/261900|UMLS:C0263491|SNOMEDCT:17170005|MESH:C562485 http://purl.obolibrary.org/obo/MONDO_0009870 twisted hair|coarse, dry, lusterless hair which breaks off easily|pili torti, early-onset|pili torti, Ronchese type|pili torti ordo_disease CHEBI:18407 hydrogen cyanide biolink:ChemicalSubstance mondo A one-carbon compound consisting of a methine group triple bonded to a nitrogen atom http://purl.obolibrary.org/obo/CHEBI_18407 Cyanwasserstoff|HCN|methanenitrile|hydrocyanic acid|Blausaeure|[CHN]|formonitrile|hydrogen(nitridocarbonate)|Hydrogen cyanide|hydrogen cyanide|hydridonitridocarbon HGNC:29110 KIAA0753 biolink:OntologyClass mondo http://identifiers.org/hgnc/29110 CHEBI:18405 pyridoxal 5'-phosphate biolink:ChemicalSubstance mondo The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal. http://purl.obolibrary.org/obo/CHEBI_18405 Pyridoxal phosphate|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate|PLP|Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester|pyridoxal 5'-(dihydrogen phosphate)|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate|Pyridoxal 5'-phosphate|Pyridoxal 5-phosphate|pyridoxal 5-monophosphoric acid ester|codecarboxylase|3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde|PYRIDOXAL-5'-PHOSPHATE MONDO:0010851 Lowry-MacLean syndrome biolink:Disease mondo ICD10:Q87.8|OMIM:600252|MESH:C537037|SCTID:721974000|UMLS:C0796020|GARD:0003300|Orphanet:2409 Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. MESH:C537037|http://identifiers.org/omim/600252|ORPHA:2409|SNOMEDCT:721974000|UMLS:C0796020 http://purl.obolibrary.org/obo/MONDO_0010851 Lowry-MacLean syndrome|intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|Lowry MacLean syndrome ordo_malformation_syndrome MONDO:0010850 Tessier number 4 facial cleft biolink:Disease mondo Orphanet:141258|OMIM:600251|ICD10:Q18.8 http://identifiers.org/omim/600251|ORPHA:141258 http://purl.obolibrary.org/obo/MONDO_0010850 facial clefting, oblique, 1|OBLFC1|oculomaxillofacial dysplasia with oblique Facial clefts|facial clefting, oblique, 1; OBLFC1|facial clefting, oblique, type 1 ordo_morphological_anomaly MONDO:0010853 Helicobacter pylori infection, susceptibility to biolink:Disease mondo UMLS:C1838332|OMIM:600263 http://identifiers.org/omim/600263|UMLS:C1838332 http://purl.obolibrary.org/obo/MONDO_0010853 Helicobacter pylori infection, susceptibility to predisposition MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome biolink:Disease mondo OMIM:600257|UMLS:C1838346|GARD:0010002|MESH:C536574 http://identifiers.org/omim/600257|MESH:C536574|UMLS:C1838346 http://purl.obolibrary.org/obo/MONDO_0010852 Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome|chromosome 8Q12.1-q21.2 deletion syndrome|bor-Duane hydrocephalus contiguous Gene syndrome MONDO:0022822 congenital cardiovascular shunt biolink:Disease mondo GARD:0006154 http://purl.obolibrary.org/obo/MONDO_0022822 gard_rare HGNC:20778 TUBB biolink:OntologyClass mondo http://identifiers.org/hgnc/20778 CHEBI:79389 monovalent inorganic anion biolink:ChemicalSubstance mondo Any inorganic anion with a valency of one. http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anions MONDO:0022823 congenital contractures biolink:Disease mondo GARD:0001477 http://purl.obolibrary.org/obo/MONDO_0022823 gard_rare MONDO:0022824 congenital craniosynostosis maternal hyperthyroiditis biolink:Disease mondo GARD:0001478 http://purl.obolibrary.org/obo/MONDO_0022824 gard_rare CHEBI:79388 divalent inorganic anion biolink:ChemicalSubstance mondo Any inorganic anion with a valency of two. http://purl.obolibrary.org/obo/CHEBI_79388 divalent inorganic anions MONDO:0022825 congenital cystic eye biolink:Disease mondo GARD:0010617|Orphanet:519384 ORPHA:519384 http://purl.obolibrary.org/obo/MONDO_0022825 CCE gard_rare|ordo_morphological_anomaly CHEBI:79387 trivalent inorganic anion biolink:ChemicalSubstance mondo Any inorganic anion with a valency of three. http://purl.obolibrary.org/obo/CHEBI_79387 trivalent inorganic anions MONDO:0022826 congenital cystic eye multiple ocular and intracranial anomalies biolink:Disease mondo GARD:0001479 http://purl.obolibrary.org/obo/MONDO_0022826 gard_rare MONDO:0019250 inborn disorder of biogenic amine metabolism and transport biolink:Disease mondo Orphanet:79214|UMLS:CN227606 ORPHA:79214|UMLS:CN227606 http://purl.obolibrary.org/obo/MONDO_0019250 disorder of biogenic amine metabolism and transport ordo_group_of_disorders MONDO:0019252 other metabolic disease with skin involvement biolink:Disease mondo Orphanet:79217|UMLS:CN205838 ORPHA:79217|UMLS:CN205838 http://purl.obolibrary.org/obo/MONDO_0019252 obsoletion_candidate|ordo_group_of_disorders MONDO:0019251 oligosaccharidosis biolink:Disease mondo ICD10:E77.1|Orphanet:79215 ORPHA:79215 http://purl.obolibrary.org/obo/MONDO_0019251 ordo_group_of_disorders MONDO:0007269 dilated cardiomyopathy 1A biolink:Disease mondo UMLS:C1449563|GARD:0001104|ICD10:I42.0|DOID:0110425|Orphanet:300751|SCTID:766883006|OMIM:115200 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase. UMLS:C1449563|SNOMEDCT:766883006|DOID:0110425|ORPHA:300751|http://identifiers.org/omim/115200 http://purl.obolibrary.org/obo/MONDO_0007269 cardiomyopathy, familial idiopathic|cardiomyopathy, dilated, with conduction defect 1|LMNA familial isolated dilated cardiomyopathy|cardiomyopathy, idiopathic dilated|CDCD1|CMD1A|cardiomyopathy, dilated, 1A; CMD1A|cardiomyopathy dilated with conduction defect type 1|cardiomyopathy, congestive|cardiomyopathy, dilated, type 1A|familial isolated dilated cardiomyopathy caused by mutation in LMNA|familial dilated cardiomyopathy with conduction defect due to LMNA mutation|dilated cardiomyopathy type 1A|CMD1A|cardiomyopathy, dilated, 1A|dilated cardiomyopathy with conduction defect 1 ordo_disease|gard_rare GO:0042321 negative regulation of circadian sleep/wake cycle, sleep biolink:OntologyClass mondo Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. http://purl.obolibrary.org/obo/GO_0042321 down-regulation of circadian sleep/wake cycle, sleep|down regulation of circadian sleep/wake cycle, sleep|negative regulation of sleep|inhibition of circadian sleep/wake cycle, sleep|downregulation of circadian sleep/wake cycle, sleep MONDO:0020247 congenital vitreoretinal dysplasia biolink:Disease mondo ICD10:Q14.1|SCTID:449866003|Orphanet:98669|ICD9:743.56 SNOMEDCT:449866003|ORPHA:98669 http://purl.obolibrary.org/obo/MONDO_0020247 vitreoretinal dysplasia ordo_group_of_disorders GO:0042320 regulation of circadian sleep/wake cycle, REM sleep biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep. http://purl.obolibrary.org/obo/GO_0042320 regulation of REM sleep MONDO:0020246 inherited vitreoretinopathy biolink:Disease mondo HP:0007773|UMLS:C1850109|Orphanet:98668 UMLS:C1850109|ORPHA:98668 http://purl.obolibrary.org/obo/MONDO_0020246 ordo_group_of_disorders MONDO:0020245 disease predisposing to age-related macular degeneration biolink:Disease mondo UMLS:CN207066|Orphanet:98667 ORPHA:98667|UMLS:CN207066 http://purl.obolibrary.org/obo/MONDO_0020245 ordo_group_of_disorders MONDO:0007267 hypertrophic cardiomyopathy 3 biolink:Disease mondo OMIM:115196|DOID:0110309|UMLS:C1861863|MESH:C566170 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. MESH:C566170|UMLS:C1861863|DOID:0110309|http://identifiers.org/omim/115196 http://purl.obolibrary.org/obo/MONDO_0007267 cardiomyopathy, familial hypertrophic, type 3|TPM1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 3|CMH3|cardiomyopathy, familial hypertrophic, 3|cardiomyopathy, familial hypertrophic, 3; CMH3|hypertrophic cardiomyopathy caused by mutation in TPM1|hypertrophic cardiomyopathy type 3 MONDO:0007268 hypertrophic cardiomyopathy 4 biolink:Disease mondo MESH:C566169|UMLS:C1861862|NCIT:C133725|OMIM:115197|DOID:0110310 An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy. MESH:C566169|UMLS:C1861862|NCIT:C133725|DOID:0110310|http://identifiers.org/omim/115197 http://purl.obolibrary.org/obo/MONDO_0007268 cardiomyopathy, familial hypertrophic, type 4|hypertrophic cardiomyopathy caused by mutation in MYBPC3|CMH4|familial hypertrophic cardiomyopathy type 4|hypertrophic cardiomyopathy type 4|cardiomyopathy, familial hypertrophic, 4|cardiomyopathy, familial hypertrophic, 4; CMH4|MYBPC3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 4, susceptibility to GO:0042322 negative regulation of circadian sleep/wake cycle, REM sleep biolink:OntologyClass mondo Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep. http://purl.obolibrary.org/obo/GO_0042322 inhibition of circadian sleep/wake cycle, REM sleep|negative regulation of REM sleep|downregulation of circadian sleep/wake cycle, REM sleep|down-regulation of circadian sleep/wake cycle, REM sleep|down regulation of circadian sleep/wake cycle, REM sleep MONDO:0020244 unclassified primitive or secondary maculopathy biolink:Disease mondo Orphanet:98666 ORPHA:98666 http://purl.obolibrary.org/obo/MONDO_0020244 ordo_group_of_disorders MONDO:0007265 cardiofaciocutaneous syndrome 1 biolink:Disease mondo UMLS:CN029449|OMIM:115150 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene. http://identifiers.org/omim/115150|UMLS:CN029449 http://purl.obolibrary.org/obo/MONDO_0007265 CFC1|Cfcs|cardiofaciocutaneous syndrome 1|CFC syndrome|cardiofaciocutaneous syndrome type 1|cardiofaciocutaneous syndrome caused by mutation in BRAF|cardiofaciocutaneous syndrome 1; CFC1|BRAF cardiofaciocutaneous syndrome MONDO:0020243 colobomatous and areolar dystrophy biolink:Disease mondo Orphanet:98665 ORPHA:98665 http://purl.obolibrary.org/obo/MONDO_0020243 ordo_group_of_disorders MONDO:0007266 hypertrophic cardiomyopathy 2 biolink:Disease mondo DOID:0110308|UMLS:C1861864|OMIM:115195|MESH:C566171|NCIT:C142892 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. MESH:C566171|UMLS:C1861864|DOID:0110308|NCIT:C142892|http://identifiers.org/omim/115195 http://purl.obolibrary.org/obo/MONDO_0007266 cardiomyopathy, familial hypertrophic, type 2|TNNT2 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 2|hypertrophic cardiomyopathy caused by mutation in TNNT2|cardiomyopathy, familial hypertrophic, 2|cardiomyopathy, familial hypertrophic, 2; CMH2|CMH2|familial hypertrophic cardiomyopathy type 2|hypertrophic cardiomyopathy type 2 MONDO:0020242 genetic macular dystrophy biolink:Disease mondo NCIT:C140264|SCTID:276436007|ICD10:H35.5|DC:0000263|Orphanet:98664 Macular dystrophy that is related to a change in a gene. NCIT:C140264|SNOMEDCT:276436007|ORPHA:98664 http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy (disease)|genetic macular dystrophy ordo_group_of_disorders MONDO:0020241 unclassified familial retinal dystrophy biolink:Disease mondo Orphanet:98662|UMLS:CN227835 UMLS:CN227835|ORPHA:98662 http://purl.obolibrary.org/obo/MONDO_0020241 ordo_group_of_disorders MONDO:0007263 cardiac rhythm disease biolink:Disease mondo EFO:0004269|SCTID:698247007|ICD9:427.9|NCIT:C2881 Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. SNOMEDCT:698247007|NCIT:C2881 http://purl.obolibrary.org/obo/MONDO_0007263 arrhythmia MONDO:0020240 syndromic retinitis pigmentosa biolink:Disease mondo Orphanet:98661|UMLS:CN227834 A retinitis pigmentosa that is part of a larger syndrome. UMLS:CN227834|ORPHA:98661 http://purl.obolibrary.org/obo/MONDO_0020240 syndromic retinitis pigmentosa|syndrome associated with retinitis pigmentosa|syndrome associated with retinitis pigmentosa ordo_group_of_disorders MONDO:0007264 sudden cardiac arrest biolink:Disease mondo SCTID:95281009|EFO:0004278|OMIM:115080|NCIT:C78245 An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms. SNOMEDCT:95281009|NCIT:C50911|http://identifiers.org/omim/115080|NCIT:C78245 http://purl.obolibrary.org/obo/MONDO_0007264 cardiac conduction Disorder|sudden cardiac death|heart conduction disorder|disorder of cardiac conduction|cardiac conduction defect|conduction disorder|familial sudden death MONDO:0007261 Carabelli anomaly of maxillary molar teeth biolink:Disease mondo MESH:C566175|UMLS:C1861897|OMIM:114700 UMLS:C1861897|http://identifiers.org/omim/114700|MESH:C566175 http://purl.obolibrary.org/obo/MONDO_0007261 Carabelli anomaly of maxillary molar teeth MONDO:0007262 obsolete carcinoid syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007262 MONDO:0007260 Car factor deficiency biolink:Disease mondo OMIM:114650|UMLS:C1861898|MESH:C566176 http://identifiers.org/omim/114650|MESH:C566176|UMLS:C1861898 http://purl.obolibrary.org/obo/MONDO_0007260 Car factor deficiency n_of_one GO:0042325 regulation of phosphorylation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. http://purl.obolibrary.org/obo/GO_0042325 MONDO:0020239 obsolete color-vision disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020239 MONDO:0020238 inherited vitreous-retinal disease biolink:Disease mondo Orphanet:98657|UMLS:CN207063 ORPHA:98657|UMLS:CN207063 http://purl.obolibrary.org/obo/MONDO_0020238 genetic vitreous-retinal disease|genetic vitreoretinal disease ordo_group_of_disorders GO:0042327 positive regulation of phosphorylation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/GO_0042327 up regulation of phosphorylation|activation of phosphorylation|stimulation of phosphorylation|upregulation of phosphorylation|up-regulation of phosphorylation MONDO:0020237 lens shape anomaly biolink:Disease mondo Orphanet:98655 ORPHA:98655 http://purl.obolibrary.org/obo/MONDO_0020237 ordo_group_of_disorders GO:0042326 negative regulation of phosphorylation biolink:OntologyClass mondo Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/GO_0042326 down-regulation of phosphorylation|down regulation of phosphorylation|downregulation of phosphorylation|inhibition of phosphorylation HGNC:17109 ADAMTS17 biolink:OntologyClass mondo http://identifiers.org/hgnc/17109 MONDO:0019258 mild phenylketonuria biolink:Disease mondo GARD:0010324|ICD10:E70.1|Orphanet:79253 Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. ORPHA:79253 http://purl.obolibrary.org/obo/MONDO_0019258 variant PKU|variant phenylketonuria|mild PKU|mPKU ordo_clinical_subtype|gard_rare MONDO:0022899 crawfurd syndrome biolink:Disease mondo GARD:0001607 http://purl.obolibrary.org/obo/MONDO_0022899 gard_rare HGNC:17104 CDON biolink:OntologyClass mondo http://identifiers.org/hgnc/17104 MONDO:0019257 hemochromatosis type 2 biolink:Disease mondo SCTID:50855007|Orphanet:79230|UMLS:CN205842|GARD:0010092|ICD10:E83.1|MESH:C537247|DOID:0111034 Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. MESH:C537247|DOID:0111034|ORPHA:79230|SNOMEDCT:50855007|UMLS:CN205842 http://purl.obolibrary.org/obo/MONDO_0019257 hemochromatosis juvenile|iron overload disease juvenile|HFE2|JHH|juvenile hemochromatosis ordo_disease MONDO:0019259 classic phenylketonuria biolink:Disease mondo ICD10:E70.0|MedDRA:10034875|Orphanet:79254 Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. UMLS:C0751434|ORPHA:79254|MEDDRA:10034875 http://purl.obolibrary.org/obo/MONDO_0019259 classic PKU ordo_clinical_subtype HGNC:20748 FANCL biolink:OntologyClass mondo http://identifiers.org/hgnc/20748 MONDO:0019254 inborn disorder of purine or pyrimidine metabolism biolink:Disease mondo ICD10:E79.8|ICD10:E79.1|ICD9:277.2|ICD10:E79.0|UMLS:C0034139|DOID:653|Orphanet:79224|MESH:D011686|MedDRA:10037546|ICD10:E79.9 DOID:653|ORPHA:79224|MESH:D011686|UMLS:C0034139|MEDDRA:10037546 http://purl.obolibrary.org/obo/MONDO_0019254 inborn errors of purine-pyrimidine metabolism|inborn purine-pyrimidine metabolic disorder|purine-pyrimidine metabolic disorder|disorder of purine or pyrimidine metabolism ordo_group_of_disorders MONDO:0019253 metabolic disease involving other neurotransmitter deficiency biolink:Disease mondo Orphanet:79219|UMLS:CN205839 ORPHA:79219|UMLS:CN205839 http://purl.obolibrary.org/obo/MONDO_0019253 ordo_group_of_disorders MONDO:0019256 sterol metabolism disorder biolink:Disease mondo Orphanet:79226|UMLS:CN227607 An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. ORPHA:79226|UMLS:CN227607 http://purl.obolibrary.org/obo/MONDO_0019256 rare inborn error of sterol metabolic process|inborn sterol metabolic process disorder|rare inborn error of sterol metabolic process|inborn error of sterol metabolic process ordo_group_of_disorders MONDO:0019255 sphingolipidosis biolink:Disease mondo NCIT:C117254|DOID:1927|ICD10:E75.0|Orphanet:79225|SCTID:238028008|ICD10:E75.2|ICD10:E75.3|UMLS:C0037899|ICD10:E75.1|MESH:D013106|GARD:0007672 An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. ORPHA:79225|UMLS:C0037899|DOID:1927|SNOMEDCT:238028008|NCIT:C117254|MESH:D013106 http://purl.obolibrary.org/obo/MONDO_0019255 sphingolipidoses|sphingolipidosis, NOS gard_rare|ordo_group_of_disorders MONDO:0022891 craniosynostosis Maroteaux Fonfria type biolink:Disease mondo GARD:0001598 http://purl.obolibrary.org/obo/MONDO_0022891 gard_rare MONDO:0022892 craniosynostosis alopecia brain defect biolink:Disease mondo GARD:0001586 http://purl.obolibrary.org/obo/MONDO_0022892 gard_rare HGNC:20761 ZFYVE26 biolink:OntologyClass mondo http://identifiers.org/hgnc/20761 MONDO:0019241 inborn disorder of the gamma-glutamyl cycle biolink:Disease mondo UMLS:C0268517|SCTID:9128006|Orphanet:79196|ICD10:E72.8 ORPHA:79196|UMLS:C0268517|SNOMEDCT:9128006 http://purl.obolibrary.org/obo/MONDO_0019241 disorder of the gamma-glutamyl cycle|disorder of gamma-glutamyl cycle ordo_group_of_disorders MONDO:0022893 craniosynostosis arthrogryposis cleft palate biolink:Disease mondo GARD:0001587 http://purl.obolibrary.org/obo/MONDO_0022893 gard_rare MONDO:0019240 sterol biosynthesis disorder biolink:Disease mondo UMLS:CN227602|Orphanet:79195 An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process. ORPHA:79195|UMLS:CN227602 http://purl.obolibrary.org/obo/MONDO_0019240 inborn sterol biosynthetic process disorder|rare inborn error of sterol biosynthetic process|inborn error of sterol biosynthetic process|rare inborn error of sterol biosynthetic process ordo_group_of_disorders MONDO:0022894 craniosynostosis autosomal dominant biolink:Disease mondo GARD:0001588 http://purl.obolibrary.org/obo/MONDO_0022894 gard_rare MONDO:0022895 craniosynostosis cleft lip palate arthrogryposis biolink:Disease mondo GARD:0001590 http://purl.obolibrary.org/obo/MONDO_0022895 gard_rare MONDO:0022896 craniosynostosis contractures cleft biolink:Disease mondo GARD:0001591 http://purl.obolibrary.org/obo/MONDO_0022896 gard_rare MONDO:0022897 craniosynostosis exostoses nevus epibulbar dermoid biolink:Disease mondo GARD:0001593 http://purl.obolibrary.org/obo/MONDO_0022897 gard_rare HGNC:20766 TUBA1A biolink:OntologyClass mondo http://identifiers.org/hgnc/20766 MONDO:0022898 craniosynostosis mental retardation heart defects biolink:Disease mondo GARD:0001600 http://purl.obolibrary.org/obo/MONDO_0022898 gard_rare MONDO:0020236 lens position anomaly biolink:Disease mondo NCIT:C125484|Orphanet:98653|ICD10:Q12.1|HP:0001083 Partial or complete displacement of the crystalline lens from its normal position in the eye. NCIT:C125484|ORPHA:98653 http://purl.obolibrary.org/obo/MONDO_0020236 ectopia lentis ordo_group_of_disorders MONDO:0020235 lens size anomaly biolink:Disease mondo Orphanet:98652 ORPHA:98652 http://purl.obolibrary.org/obo/MONDO_0020235 ordo_group_of_disorders MONDO:0007278 cataract 32 multiple types biolink:Disease mondo OMIM:115650|DOID:0110227|ICD10:Q12.0 A cataract that has material basis in mutation in the region 14q22-q23. DOID:0110227|http://identifiers.org/omim/115650 http://purl.obolibrary.org/obo/MONDO_0007278 cataract, anterior polar, 1|cataract, anterior polar|cataract, posterior polar, 5|anterior polar cataract 1|posterior polar cataract 5|CTPP5|cataract 32, multiple types|CTRCT32|cataract 32, multiple types; CTRCT32|CTAA1 MONDO:0020234 craniofacial anomaly with cataract biolink:Disease mondo Orphanet:98650 ORPHA:98650 http://purl.obolibrary.org/obo/MONDO_0020234 ordo_group_of_disorders MONDO:0020233 dentocutaneous disease with cataract biolink:Disease mondo Orphanet:98649|UMLS:CN207061 ORPHA:98649|UMLS:CN207061 http://purl.obolibrary.org/obo/MONDO_0020233 ordo_group_of_disorders MONDO:0007279 cataract 7 biolink:Disease mondo DOID:0110260|ICD10:Q12.0|OMIM:115660 A cataract that has material basis in variation in the region 17q24. DOID:0110260|http://identifiers.org/omim/115660 http://purl.obolibrary.org/obo/MONDO_0007279 cataract type 7|cataract, congenital, cerulean type, 1|CTRCT7|cataract 7|congenital cerulean type cataract 1|CCA1|cataract 7; CTRCT7|cerulean type cataract 7|cataract 7, cerulean type MONDO:0007276 cat-eye syndrome biolink:Disease mondo UMLS:C0265493|GARD:0000026|OMIM:115470|MESH:C535918|SCTID:26445008|NCIT:C75477|Orphanet:195|ICD10:Q92.8 Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. UMLS:C0265493|NCIT:C75477|SNOMEDCT:26445008|MESH:C535918|http://identifiers.org/omim/115470|ORPHA:195 http://purl.obolibrary.org/obo/MONDO_0007276 chromosome 22 partial tetrasomy|CAT eye syndrome; CES|Inv dup(22)(q11)|CES|Schmid-Fraccaro syndrome|CAT eye syndrome gard_rare|ordo_malformation_syndrome MONDO:0020232 musculoskeletal disease with cataract biolink:Disease mondo Orphanet:98648|UMLS:CN207060 UMLS:CN207060|ORPHA:98648 http://purl.obolibrary.org/obo/MONDO_0020232 ordo_group_of_disorders MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:1373|GARD:0005554|OMIM:115645|SCTID:715988005|MESH:C536691 Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. MESH:C536691|SNOMEDCT:715988005|http://identifiers.org/omim/115645|ORPHA:1373 http://purl.obolibrary.org/obo/MONDO_0007277 Wellesley Carmen French syndrome|cataract, aberrant oral frenula, and growth retardation|Wellesley-Carman-French syndrome|cataracts, aberrant oral frenula, and growth retardation ordo_malformation_syndrome MONDO:0020231 cardiac disease with cataract biolink:Disease mondo UMLS:CN207059|Orphanet:98647 ORPHA:98647|UMLS:CN207059 http://purl.obolibrary.org/obo/MONDO_0020231 ordo_group_of_disorders MONDO:0007274 carpal displacement biolink:Disease mondo UMLS:C1861847|OMIM:115400 http://identifiers.org/omim/115400|UMLS:C1861847 http://purl.obolibrary.org/obo/MONDO_0007274 carpal displacement|carpal bossing MONDO:0020230 renal disease with cataract biolink:Disease mondo UMLS:CN207058|Orphanet:98646 UMLS:CN207058|ORPHA:98646 http://purl.obolibrary.org/obo/MONDO_0020230 ordo_group_of_disorders GO:0042330 taxis biolink:OntologyClass mondo The directed movement of a motile cell or organism in response to an external stimulus. http://purl.obolibrary.org/obo/GO_0042330 directed movement in response to stimulus MONDO:0007275 carpal tunnel syndrome biolink:Disease mondo UMLS:C0007286|MESH:D002349|SCTID:57406009|COHD:380094|ICD9:354.0|EFO:0004143|ICD10:G56.00|DOID:12169|NCIT:C34450|ICD10:G56.0 Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement. UMLS:C0007286|DOID:12169|SNOMEDCT:57406009|MESH:D002349|NCIT:C34450 http://purl.obolibrary.org/obo/MONDO_0007275 median nerve entrapment|CTS|amyotrophy, thenar, of carpal origin|carpal tunnel syndrome|carpal tunnel median neuropathy|CTS - carpal tunnel syndrome MONDO:0022890 craniosynostosis Fontaine type biolink:Disease mondo GARD:0001595 http://purl.obolibrary.org/obo/MONDO_0022890 gard_rare MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency biolink:Disease mondo MESH:C567296|OMIM:115300|Orphanet:199285|ICD10:E50.8|SCTID:726079008 Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. ORPHA:199285|http://identifiers.org/omim/115300|SNOMEDCT:726079008|MESH:C567296 http://purl.obolibrary.org/obo/MONDO_0007272 HCVAD|hypercarotenemia and vitamin A deficiency, autosomal dominant|Carotenoids, plasma level of, quantitative trait locus 1|hypercarotenemia and vitamin A deficiency, autosomal dominant; HCVAD ordo_disease MONDO:0007273 paragangliomas 4 biolink:Disease mondo OMIM:115310|GARD:0010546|UMLS:C1861848 Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene. http://identifiers.org/omim/115310|UMLS:C1861848 http://purl.obolibrary.org/obo/MONDO_0007273 SDHB-related hereditary paraganglioma-pheochromocytoma syndrome|paragangliomas, hereditary extraadrenal|paragangliomas type 4|pheochromocytoma, familial extraadrenal|paraganglioma, familial malignant|paragangliomas 4|SDHB paraganglioma|pheochromocytoma, extraadrenal and cervical paraganglioma|pheochromocytoma, extraadrenal, and cervical paraganglioma|PGL4|paragangliomas 4; PGL4|paraganglioma caused by mutation in SDHB|carotid body tumors and multiple extraadrenal Pheochromocytomas gard_rare MONDO:0007270 cardiomyopathy, familial restrictive, 1 biolink:Disease mondo MESH:C566168|OMIM:115210|UMLS:C1861861 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. http://identifiers.org/omim/115210|MESH:C566168|UMLS:C1861861 http://purl.obolibrary.org/obo/MONDO_0007270 RCM1|cardiomyopathy, familial restrictive, 1; RCM1|familial isolated restrictive cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial restrictive, type 1|Rcm|TNNI3 familial isolated restrictive cardiomyopathy|cardiomyopathy, familial restrictive, 1 MONDO:0007271 familial cutaneous collagenoma biolink:Disease mondo OMIM:115250|MESH:C562925|GARD:0009799|ICD10:L94.8|Orphanet:53296|UMLS:C0406817|SCTID:239139000 Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission. ORPHA:53296|SNOMEDCT:239139000|http://identifiers.org/omim/115250|MESH:C562925|UMLS:C0406817 http://purl.obolibrary.org/obo/MONDO_0007271 collagenoma, familial cutaneous ordo_disease|gard_rare MONDO:0020229 cerebral disease with cataract biolink:Disease mondo Orphanet:98645|UMLS:CN207057 UMLS:CN207057|ORPHA:98645 http://purl.obolibrary.org/obo/MONDO_0020229 ordo_group_of_disorders MONDO:0020228 cataract associated with a metabolic disease biolink:Disease mondo Orphanet:98644|UMLS:CN207056 UMLS:CN207056|ORPHA:98644 http://purl.obolibrary.org/obo/MONDO_0020228 ordo_group_of_disorders MONDO:0020227 systemic disease with cataract biolink:Disease mondo Orphanet:98643|UMLS:C0339369 UMLS:C0339369|ORPHA:98643 http://purl.obolibrary.org/obo/MONDO_0020227 ordo_group_of_disorders MONDO:0020226 chromosomal anomaly with cataract biolink:Disease mondo Orphanet:98642 ORPHA:98642 http://purl.obolibrary.org/obo/MONDO_0020226 ordo_group_of_disorders MONDO:0022888 craniostenosis cataract biolink:Disease mondo GARD:0001584 http://purl.obolibrary.org/obo/MONDO_0022888 gard_rare MONDO:0019247 obsolete combined hyperlipidemia (including acquired and inherited) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019247 MONDO:0019246 inborn disorder of lysosomal amino acid transport biolink:Disease mondo UMLS:CN227605|Orphanet:79207 UMLS:CN227605|ORPHA:79207 http://purl.obolibrary.org/obo/MONDO_0019246 disorder of lysosomal amino acid transport ordo_group_of_disorders MONDO:0022889 craniostenosis with congenital heart disease mental retardation biolink:Disease mondo GARD:0001585 http://purl.obolibrary.org/obo/MONDO_0022889 gard_rare MONDO:0019249 mucopolysaccharidosis biolink:Disease mondo OMIMPS:607014|MedDRA:10028093|GARD:0007065|MESH:D009083|ICD9:277.5|SCTID:11380006|COHD:433446|NCIT:C61259|ICD10:E76.1|DOID:12798|Orphanet:79213|UMLS:C0026703|ICD10:E76.2|ICD10:E76.3|ICD10:E76.0 A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. MESH:D009083|UMLS:C0026703|SNOMEDCT:11380006|NCIT:C61259|ORPHA:79213|MEDDRA:10028093|DOID:12798 http://purl.obolibrary.org/obo/MONDO_0019249 mucopolysaccharidosis|MPS|mucopolysaccharidoses gard_rare|ordo_group_of_disorders MONDO:0019248 mucolipidosis biolink:Disease mondo MESH:D009081|UMLS:C0026697|DC:0000289|SCTID:70528007|NCIT:C61267|Orphanet:79212 A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. MESH:D009081|UMLS:C0026697|NCIT:C61267|ORPHA:79212|SNOMEDCT:70528007 http://purl.obolibrary.org/obo/MONDO_0019248 ordo_group_of_disorders HGNC:17116 CATSPER1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17116 MONDO:0019243 inborn disorder of energy metabolism biolink:Disease mondo Orphanet:79200|UMLS:CN227604 An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. ORPHA:79200|UMLS:CN227604 http://purl.obolibrary.org/obo/MONDO_0019243 inborn error of generation of precursor metabolites and energy|rare inborn error of generation of precursor metabolites and energy|disorder of energy metabolism|inborn generation of precursor metabolites and energy disorder|rare inborn error of generation of precursor metabolites and energy ordo_group_of_disorders MONDO:0019242 inborn disorder of branched-chain amino acid metabolism biolink:Disease mondo ICD10:E71.0|UMLS:C0342712|ICD10:E71.2|ICD10:E71.1|SCTID:116020001|Orphanet:79197 An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process. ORPHA:79197|UMLS:C0342712|SNOMEDCT:116020001 http://purl.obolibrary.org/obo/MONDO_0019242 rare inborn error of branched-chain amino acid metabolic process|disorder of branched-chain amino acid metabolism|disorder of branched chain amino acid metabolism|branched chain amino acid metabolism disorder|rare inborn error of branched-chain amino acid metabolic process|inborn branched-chain amino acid metabolic process disorder|inborn error of branched-chain amino acid metabolic process ordo_group_of_disorders HGNC:17110 ADAMTS18 biolink:OntologyClass mondo http://identifiers.org/hgnc/17110 MONDO:0019245 lysosomal lipid storage disorder biolink:Disease mondo SCTID:10741005|ICD9:272.7|UMLS:CN205834|ICD10:E75.5|ICD9:272.8|ICD10:E75.6|Orphanet:79204|DOID:9455|MESH:D008064 An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. MESH:D008064|SNOMEDCT:10741005|ORPHA:79204|DOID:9455|UMLS:CN205834 http://purl.obolibrary.org/obo/MONDO_0019245 lipoidosis|rare inborn error of lipid storage|inborn error of lipid storage|lipoid storage disease|lipoid storage disorder|rare inborn error of lipid storage|lipidoses|lipoid storage diseas|inborn lipid storage disorder|lipid storage disease|lipidosis|lipoidoses ordo_group_of_disorders MONDO:0019244 obsolete glycogen storage disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019244 MONDO:0022880 corticobasal degeneration biolink:Disease mondo SCTID:18842008 SNOMEDCT:18842008 http://purl.obolibrary.org/obo/MONDO_0022880 corticobasal degeneration|cortical basal ganglionic degeneration|corticodentatonigral degeneration with neuronal achromasia MONDO:0019230 inborn disorder of ornithine or proline metabolism biolink:Disease mondo Orphanet:79185|UMLS:CN227595 ORPHA:79185|UMLS:CN227595 http://purl.obolibrary.org/obo/MONDO_0019230 disorder of ornithine or proline metabolism ordo_group_of_disorders MONDO:0022883 craniofacial and skeletal defects biolink:Disease mondo GARD:0001570 http://purl.obolibrary.org/obo/MONDO_0022883 gard_rare MONDO:0022884 craniofacial dysostosis arthrogryposis progeroid appearence biolink:Disease mondo GARD:0001573 http://purl.obolibrary.org/obo/MONDO_0022884 Van Biervliet Hendrickx Van Ertbruggen syndrome gard_rare MONDO:0022885 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022885 HGNC:20731 GNB4 biolink:OntologyClass mondo http://identifiers.org/hgnc/20731 MONDO:0007249 camptobrachydactyly biolink:Disease mondo GARD:0001062|MESH:C537967|Orphanet:1319|ICD10:Q74.8|OMIM:114150|SCTID:733045005 Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. http://identifiers.org/omim/114150|ORPHA:1319|MESH:C537967|UMLS:C1861963|SNOMEDCT:733045005 http://purl.obolibrary.org/obo/MONDO_0007249 short foot/brachydactyly of toes, camptodactyly, brachydactyly|camptobrachydactyly ordo_malformation_syndrome|gard_rare MONDO:0022887 craniofrontonasal syndrome Teebi type biolink:Disease mondo GARD:0001579 http://purl.obolibrary.org/obo/MONDO_0022887 gard_rare MONDO:0020225 syndromic cataract biolink:Disease mondo Orphanet:98641|UMLS:CN227829 A cataract (disease) that is part of a larger syndrome. ORPHA:98641|UMLS:CN227829 http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract (disease)|syndrome associated with cataract (disease)|syndrome associated with cataract (disease) ordo_group_of_disorders MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset biolink:Disease mondo GARD:0009598|UMLS:C1861967|OMIM:114100|MESH:C536276 http://identifiers.org/omim/114100|MESH:C536276|UMLS:C1861967 http://purl.obolibrary.org/obo/MONDO_0007247 cerebral calcification nonarteriosclerotic idiopathic childhood-onset|IBGC childhood onset|striopallidodentate calcinosis, bilateral, childhood-onset|IBGC, childhood-onset|cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset|basal ganglia calcification, idiopathic, childhood-onset|idiopathic basal ganglia calcification childhood-onset|bilateral striopallidodentate calcinosis childhood-onset gard_rare MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 biolink:Disease mondo UMLS:C1838049|DOID:0060682|OMIM:600513|MESH:C563930 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene. UMLS:C1838049|DOID:0060682|MESH:C563930|http://identifiers.org/omim/600513 http://purl.obolibrary.org/obo/MONDO_0010899 epilepsy, nocturnal frontal lobe, 1|epilepsy, nocturnal frontal lobe, 1; ENFL1|ENFL1|nocturnal frontal lobe epilepsy 1|epilepsy, nocturnal frontal lobe, type 1|autosomal dominant nocturnal frontal lobe epilepsy type 1|CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4 MONDO:0020224 obsolete rare cataract biolink:Disease mondo Orphanet:98640 Rare cataract. ORPHA:98640 http://purl.obolibrary.org/obo/MONDO_0020224 rare cataract|rare cataract (disease) ordo_group_of_disorders|obsoletion_candidate MONDO:0007248 hereditary painful callosities biolink:Disease mondo MESH:C566180|ICD10:Q82.8|Orphanet:79141|OMIM:114140|UMLS:C1861964 Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin. http://identifiers.org/omim/114140|MESH:C566180|UMLS:C1861964|ORPHA:79141 http://purl.obolibrary.org/obo/MONDO_0007248 PPK nummularis|keratosis palmoplantaris nummularis|callosities, painful plantar|Plamoplantar keratoderma nummularis|callosities, hereditary painful|Plamoplantar hyperkeratosis nummularis ordo_disease MONDO:0010898 Autosomal dominant epilepsy with auditory features biolink:Disease mondo Orphanet:101046|GARD:0002257|MESH:C537297|DOID:0060748|NCIT:C141441|UMLS:C1838062|OMIM:600512 An autosomal dominant condition that is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations. UMLS:C1838062|ORPHA:101046|DOID:0060748|NCIT:C141441|http://identifiers.org/omim/600512|MESH:C537297 http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant lateral temporal lobe epilepsy|familial temporal lobe epilepsy 1|epilepsy, partial, with auditory features|partial epilepsy with auditory aura|partial epilepsy with auditory features|familial temporal lobe epilepsy type 1|epilepsy, familial temporal lobe 1|ADPEAF|ADLTE|epilepsy, familial temporal lobe, 1|autosomal dominant partial epilepsy with auditory features|autosomal dominant epilepsy with auditory features|ETL1|epilepsy, familial temporal lobe, 1; ETL1|epilepsy, lateral temporal lobe, autosomal dominant|ADEAF|epilepsy, familial temporal lobe, type 1 ordo_disease MONDO:0007245 neurofibromatosis type 6 biolink:Disease mondo GARD:0001050|GARD:0003967|ICD10:L81.3|UMLS:C1861975|OMIM:114030|Orphanet:2678|MESH:C537421|UMLS:CN035858 Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafC)-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. ORPHA:2678|MESH:C537421|UMLS:C1861975|http://identifiers.org/omim/114030|UMLS:CN035858 http://purl.obolibrary.org/obo/MONDO_0007245 multiple cafC)-au-lait spots|NF6|familial cafC)-au-lait spots|multiple cafe´-au-lait syndrome|familial cafeB4-au-lait spots|multiple cafC)-au-lait syndrome|multiple cafeB4-au-lait spots|autosomal dominant CAFé au lait spots|cafe au lait spots, multiple|multiple CAFé-au-lait syndrome|neurofibromatosis type 6|multiple cafe-au-lait spots|multiple cafeB4-au-lait syndrome|cafe-AU-lait SPOTS, multiple|familial CAFé-au-lait spots|multiple CAFé-au-lait spots|multiple cafe´-au-lait spots|familial cafe´-au-lait spots gard_rare|ordo_malformation_syndrome MONDO:0020223 lens and zonula anomaly biolink:Disease mondo Orphanet:98639 ORPHA:98639 http://purl.obolibrary.org/obo/MONDO_0020223 ordo_group_of_disorders|implicit_genetic_in_ordo|obsoletion_candidate MONDO:0020222 rare disease with glaucoma as a major feature biolink:Disease mondo UMLS:CN207054|Orphanet:98638 UMLS:CN207054|ORPHA:98638 http://purl.obolibrary.org/obo/MONDO_0020222 ordo_group_of_disorders|obsoletion_candidate MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial biolink:Disease mondo MESH:C566182|UMLS:C1861974|OMIM:114065 MESH:C566182|UMLS:C1861974|http://identifiers.org/omim/114065 http://purl.obolibrary.org/obo/MONDO_0007246 calcific aortic disease with immunologic abnormalities, familial MONDO:0007243 Burkitt lymphoma biolink:Disease mondo NCIT:C2912|ONCOTREE:BL|Orphanet:543|MESH:D002051|ICD10:C83.7|MedDRA:10053518|ICD10:C83.70|MedDRA:10067184|MedDRA:10006595|UMLS:C0006413|ICD9:200.2|EFO:0000309|OMIM:113970|SCTID:118617000|GARD:0005973|DOID:8584|COHD:4041800|ICDO:9687/3 Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. SNOMEDCT:118617000|MEDDRA:10053518|NCIT:C2912|MEDDRA:10006595|http://identifiers.org/omim/113970|ORPHA:543|UMLS:C0079770|UMLS:C0006413|MEDDRA:10067184|DOID:8584|MESH:D002051 http://purl.obolibrary.org/obo/MONDO_0007243 Burkitt's tumor or lymphoma|Burkitt's lymphoma|BL|Burkitt lymphoma; BL|small non-cleaved cell lymphoma|Burkitt's tumor|Burkitt lymphoma|small non-cleaved cell lymphoma, Burkitt's type|malignant lymphoma, Burkitt's type|Burkitt lymphoma/leukaemia ordo_disease MONDO:0020221 secondary glaucoma due to a proliferation and differentiation anomaly biolink:Disease mondo Orphanet:98637 ORPHA:98637 http://purl.obolibrary.org/obo/MONDO_0020221 ordo_group_of_disorders MONDO:0007244 Caffey disease biolink:Disease mondo UMLS:C0020497|NCIT:C118423|OMIM:114000|GARD:0001051|ICD9:756.59|SCTID:24752008|DOID:4257|ICD10:M89.8|MESH:D006958|Orphanet:1310 Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. NCIT:C118423|SNOMEDCT:24752008|ORPHA:1310|DOID:4257|MESH:D006958|http://identifiers.org/omim/114000|UMLS:C0020497 http://purl.obolibrary.org/obo/MONDO_0007244 cortical congenital hyperostosis|Caffey disease|infantile cortical hyperostosis ordo_malformation_syndrome MONDO:0020220 corneoiridogoniodysgenesis biolink:Disease mondo Orphanet:98636 ORPHA:98636 http://purl.obolibrary.org/obo/MONDO_0020220 ordo_group_of_disorders MONDO:0007241 bundle branch block, familial isolated complete right biolink:Disease mondo OMIM:113950|UMLS:C0340504|MESH:C562759|SCTID:233919006 http://identifiers.org/omim/113950|UMLS:C0340504|SNOMEDCT:233919006|MESH:C562759 http://purl.obolibrary.org/obo/MONDO_0007241 bundle branch block, familial isolated complete right MONDO:0007242 butyrylesterase 1 biolink:Disease mondo OMIM:113960 http://identifiers.org/omim/113960 http://purl.obolibrary.org/obo/MONDO_0007242 Butyrylesterase type 1|butyrylesterase 1 MONDO:0007240 progressive familial heart block, type 1A biolink:Disease mondo DOID:0111074|EFO:0004138|NCIT:C126651|OMIM:113900|MESH:D002037|COHD:313791|GARD:0001093 An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block. http://identifiers.org/omim/113900|DOID:0111074|NCIT:C126651|MESH:D002037 http://purl.obolibrary.org/obo/MONDO_0007240 progressive familial heart block, type IA|progressive familial heart block type 1A|Cardiac conduction defect, progressive|PFHB1A|heart block progressive familial type 1|Lenegre's syndrome|progressive familial heart block type IA|Lev disease|hereditary bundle branch system defect|heart block, progressive familial, type 1|Cardiac conduction defect, nonprogressive|progressive familial heart block caused by mutation in SCN5A|SCN5A progressive familial heart block|Lenegre's disease|Lenegre disease|progressive familial heart block, type IA; PFHB1A|Lenegre-Lev disease|bundle branch block|heart block, nonprogressive gard_rare MONDO:0020219 corneogoniodysgenesis biolink:Disease mondo Orphanet:98635 ORPHA:98635 http://purl.obolibrary.org/obo/MONDO_0020219 ordo_group_of_disorders MONDO:0020218 goniodysgenesis biolink:Disease mondo Orphanet:98633|SCTID:251730004 SNOMEDCT:251730004|ORPHA:98633|UMLS:C0311237 http://purl.obolibrary.org/obo/MONDO_0020218 ordo_group_of_disorders MONDO:0019239 inborn disorder of serine family metabolism biolink:Disease mondo Orphanet:79194|UMLS:CN227601 An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process. UMLS:CN227601|ORPHA:79194 http://purl.obolibrary.org/obo/MONDO_0019239 disorder of serine or glycine metabolism|inborn error of serine family amino acid metabolic process|rare inborn error of serine family amino acid metabolic process|inborn serine family amino acid metabolic process disorder|rare inborn error of serine family amino acid metabolic process|inborn disorder of serine or glycine metabolism ordo_group_of_disorders MONDO:0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly biolink:Disease mondo Orphanet:98632 ORPHA:98632 http://purl.obolibrary.org/obo/MONDO_0020217 glaucoma associated with neural crest cell migration anomaly ordo_group_of_disorders MONDO:0020216 secondary dysgenetic glaucoma biolink:Disease mondo Orphanet:98631 A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma. ORPHA:98631 http://purl.obolibrary.org/obo/MONDO_0020216 secondary congenital glaucoma ordo_group_of_disorders HGNC:19747 EVC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19747 MONDO:0020215 syndromic corneal dystrophy biolink:Disease mondo UMLS:CN227823|Orphanet:98628 A corneal dystrophy (disease) that is part of a larger syndrome. UMLS:CN227823|ORPHA:98628 http://purl.obolibrary.org/obo/MONDO_0020215 syndrome associated with corneal dystrophy (disease)|syndromic corneal dystrophy (disease)|syndrome associated with corneal dystrophy (disease) ordo_group_of_disorders MONDO:0019236 inborn disorder of purine metabolism biolink:Disease mondo Orphanet:79191|MedDRA:10061476 An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. ORPHA:79191|MEDDRA:10061476|UMLS:C0268104 http://purl.obolibrary.org/obo/MONDO_0019236 disorder of purine metabolism|rare inborn error of purine nucleobase metabolic process|inborn error of purine nucleobase metabolic process|rare inborn error of purine nucleobase metabolic process|inborn purine nucleobase metabolic process disorder ordo_group_of_disorders MONDO:0019235 inborn disorder of phenylalanin or tyrosine metabolism biolink:Disease mondo UMLS:CN227599|Orphanet:79190 UMLS:CN227599|ORPHA:79190 http://purl.obolibrary.org/obo/MONDO_0019235 disorder of phenylalanin or tyrosine metabolism ordo_group_of_disorders MONDO:0019238 inborn disorder of pyrimidine metabolism biolink:Disease mondo MedDRA:10070969|DOID:0050832|Orphanet:79193 ANPM MEDDRA:10070969|ORPHA:79193|DOID:0050832|UMLS:C0268127 http://purl.obolibrary.org/obo/MONDO_0019238 pyrimidine metabolic disorder|disorder of pyrimidine metabolism|rare inborn error of pyrimidine nucleobase metabolic process|inborn pyrimidine nucleobase metabolic process disorder|inborn error of pyrimidine nucleobase metabolic process|rare inborn error of pyrimidine nucleobase metabolic process ordo_group_of_disorders HGNC:19743 POMT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19743 MONDO:0019237 inborn disorder of pyridoxine metabolism biolink:Disease mondo Orphanet:79192|UMLS:CN227600|ICD10:G40.8 An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process. UMLS:CN227600|ORPHA:79192 http://purl.obolibrary.org/obo/MONDO_0019237 disorder of pyridoxine metabolism|rare inborn error of pyridoxine metabolic process|inborn error of pyridoxine metabolic process|rare inborn error of pyridoxine metabolic process|inborn pyridoxine metabolic process disorder ordo_group_of_disorders MONDO:0019232 inborn disorder of peptide metabolism biolink:Disease mondo UMLS:CN227597|Orphanet:79187 UMLS:CN227597|ORPHA:79187 http://purl.obolibrary.org/obo/MONDO_0019232 disorder of peptide metabolism ordo_group_of_disorders MONDO:0019231 inborn disorder of pentose phosphate metabolism biolink:Disease mondo UMLS:CN227596|ICD10:E74.8|Orphanet:79186 UMLS:CN227596|ORPHA:79186 http://purl.obolibrary.org/obo/MONDO_0019231 disorder of pentose phosphate metabolism ordo_group_of_disorders MONDO:0019234 peroxisome biogenesis disorder biolink:Disease mondo SCTID:742876007|NCIT:C146639|GARD:0009473|GARD:0011890|MESH:C536664|OMIMPS:214100|Orphanet:79189|MESH:C531857 Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). UMLS:C1832200|MESH:C531857|NCIT:C146639|MESH:C536664|ORPHA:79189|SNOMEDCT:742876007 http://purl.obolibrary.org/obo/MONDO_0019234 PBD-ZSD|Zellweger spectrum disorders|disorders of peroxisome biogenesis|peroxisome biogenesis disorder-Zellweger syndrome spectrum|peroxisome biogenesis disorders, Zellweger syndrome spectrum|Zellweger syndrome spectrum|peroxisome biogenesis disorder spectrum|Zellweger spectrum disorder|peroxisomal biogenesis disorders|PBD-Zellweger spectrum disorder|PBD-ZSS|Zellweger spectrum|ZSD|cerebrohepatorenal syndrome|PBD, ZSS|peroxisomal biogenesis disorders, Zellweger syndrome spectrum ordo_group_of_disorders MONDO:0019233 peroxisomal beta-oxidation disorder biolink:Disease mondo ICD10:E71.3|UMLS:CN227598|GARD:0012470|Orphanet:79188 UMLS:CN227598|ORPHA:79188 http://purl.obolibrary.org/obo/MONDO_0019233 ordo_group_of_disorders|gard_rare MONDO:0022871 corpus callosum agenesis of blepharophimosis robin type biolink:Disease mondo GARD:0001538 http://purl.obolibrary.org/obo/MONDO_0022871 gard_rare MONDO:0022872 corpus callosum dysgenesis X-linked recessive biolink:Disease mondo GARD:0001543 http://purl.obolibrary.org/obo/MONDO_0022872 gard_rare MONDO:0022873 corpus callosum dysgenesis cleft spasm biolink:Disease mondo GARD:0001541 http://purl.obolibrary.org/obo/MONDO_0022873 gard_rare MONDO:0022874 corpus callosum dysgenesis hypopituitarism biolink:Disease mondo GARD:0001542 http://purl.obolibrary.org/obo/MONDO_0022874 gard_rare MONDO:0022875 cortada Koussef Matsumoto syndrome biolink:Disease mondo GARD:0001546 http://purl.obolibrary.org/obo/MONDO_0022875 gard_rare MONDO:0022876 Cortes Lacassie syndrome biolink:Disease mondo GARD:0001547 http://purl.obolibrary.org/obo/MONDO_0022876 gard_rare MONDO:0010888 endometriosis of uterus biolink:Disease mondo UMLS:C0341858|OMIM:600458|NCIT:C6996|SCTID:237115002|ICD10:N80.0|MESH:D062788|COHD:200461|DOID:288|EFO:1001757|ICD9:617.0|GARD:0008156 The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia. DOID:288|SNOMEDCT:237115002|UMLS:C0341858|NCIT:C6996|MESH:D062788|http://identifiers.org/omim/600458 http://purl.obolibrary.org/obo/MONDO_0010888 endometriosis of myometrium|uterine adenomyosis|endometriosis interna|myometrium endometriosis (disease)|endometriosis, myometrium|uterine corpus adenomyosis|adenomyosis of uterus|adenomyosis|adenomyosis of the uterus|uterus corpus adenomyosis|endometriosis (disease) of myometrium MONDO:0007258 canine teeth, absence of upper permanent biolink:Disease mondo OMIM:114600|UMLS:C1861899 http://identifiers.org/omim/114600|UMLS:C1861899 http://purl.obolibrary.org/obo/MONDO_0007258 canine teeth, absence of upper permanent MONDO:0020214 posterior corneal dystrophy biolink:Disease mondo UMLS:CN227822|UMLS:C2063478|ICD9:371.58|SCTID:35091000119101|ICD10:H18.5|Orphanet:98627 Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy. ORPHA:98627|SNOMEDCT:35091000119101|UMLS:C2063478|UMLS:CN227822 http://purl.obolibrary.org/obo/MONDO_0020214 ordo_group_of_disorders MONDO:0020213 stromal corneal dystrophy biolink:Disease mondo DOID:0060442|SCTID:231931001|ICD9:371.56|UMLS:C0038457|ICD10:H18.5|Orphanet:98626 The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. SNOMEDCT:231931001|UMLS:C0038457|ORPHA:98626|DOID:0060442 http://purl.obolibrary.org/obo/MONDO_0020213 substantia propria of cornea corneal dystrophy (disease)|stromal dystrophy|corneal stromal dystrophy|corneal dystrophy (disease) of substantia propria of cornea ordo_group_of_disorders MONDO:0007259 craniofaciofrontodigital syndrome biolink:Disease mondo UMLS:C2676032|Orphanet:363705|MESH:C567298|ICD10:Q87.0|OMIM:114620|SCTID:763320005 Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). http://identifiers.org/omim/114620|UMLS:C2676032|MESH:C567298|ORPHA:363705|SNOMEDCT:763320005 http://purl.obolibrary.org/obo/MONDO_0007259 craniofaciofrontodigital syndrome|Cantu craniofaciofrontodigital syndrome ordo_disease MONDO:0010887 isolated anterior cervical hypertrichosis biolink:Disease mondo MESH:C538390|UMLS:C1838123|GARD:0008438|ICD10:L68.2|OMIM:600457|SCTID:717963001|Orphanet:3387 Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood. UMLS:C1838123|SNOMEDCT:717963001|ORPHA:3387|http://identifiers.org/omim/600457|MESH:C538390 http://purl.obolibrary.org/obo/MONDO_0010887 anterior cervical hypertrichosis|hairy throat|Tsukahara-Kajii syndrome|Tsukahara Kajii syndrome|hairy throat syndrome|hypertrichosis, anterior cervical ordo_disease|gard_rare MONDO:0007256 hepatocellular carcinoma biolink:Disease mondo OMIM:114550|ICD10:C22.0|ONCOTREE:HCC|NCIT:C3099|MedDRA:10049010|DOID:686|EFO:0000182|DOID:684|ICDO:8170/3|COHD:4001171|MESH:D006528|Orphanet:88673 A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. http://identifiers.org/omim/114550|DOID:684|DOID:686|MESH:D006528|NCIT:C3099|MEDDRA:10049010|ORPHA:88673 http://purl.obolibrary.org/obo/MONDO_0007256 hepatoblastoma caused by somatic mutation|liver cancer|liver carcinoma|carcinoma, hepatocellular, malignant|liver and intrahepatic bile duct carcinoma|hepatocellular carcinoma|adult primary hepatocellular carcinoma|hepatoblastoma|carcinoma of the liver cells|carcinoma of liver cells|hepatocellular adenocarcinoma|primary carcinoma of the liver cells|carcinoma of liver|hepatoma|hepatocellular cancer|primary carcinoma of liver cells|liver cell carcinoma|liver cell cancer (hepatocellular carcinoma)|HCC|cancer, hepatocellular|adult hepatoma ordo_disease MONDO:0020212 superficial corneal dystrophy biolink:Disease mondo Orphanet:98625|SCTID:430888006|UMLS:C2315777|ICD10:H18.5|ICD9:371.52 The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy. ORPHA:98625|UMLS:C2315777|SNOMEDCT:430888006 http://purl.obolibrary.org/obo/MONDO_0020212 corneal epithelium corneal dystrophy (disease)|anterior corneal dystrophy|dystrophy of anterior cornea ordo_group_of_disorders MONDO:0007257 CANDF1 biolink:Disease mondo MESH:C567779|OMIM:114580|UMLS:C2751429 http://identifiers.org/omim/114580|MESH:C567779|UMLS:C2751429 http://purl.obolibrary.org/obo/MONDO_0007257 candidiasis, familial, 1; CANDF1|candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease|candidiasis, familial, 1|Cmct|CANDF1 MONDO:0020211 syndromic keratoconus biolink:Disease mondo UMLS:CN227821|Orphanet:98623 A keratoconus (disease) that is part of a larger syndrome. ORPHA:98623|UMLS:CN227821 http://purl.obolibrary.org/obo/MONDO_0020211 syndrome associated with keratoconus (disease)|syndromic keratoconus (disease)|syndrome associated with keratoconus (disease) ordo_group_of_disorders MONDO:0010889 arterial dissection-lentiginosis syndrome biolink:Disease mondo Orphanet:1682|UMLS:C1838122|MESH:C563937|OMIM:600459|ICD10:Q87.8 Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). ORPHA:1682|UMLS:C1838122|MESH:C563937|http://identifiers.org/omim/600459 http://purl.obolibrary.org/obo/MONDO_0010889 arterial dissection with lentiginosis ordo_malformation_syndrome MONDO:0007254 breast cancer biolink:Disease mondo ICD10:C50|NCIT:C9335|ICD10:C50-C50|SCTID:254837009|ICD9:174.8|DOID:1612 A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. NCIT:C9335|DOID:1612|SNOMEDCT:254837009 http://purl.obolibrary.org/obo/MONDO_0007254 malignant tumor of the breast|primary breast cancer|malignant tumor of breast|malignant neoplasm of breast|cancer of breast|mammary tumor|malignant breast tumor|malignant neoplasm of the breast|malignant breast neoplasm|breast cancer|breast tumor|mammary neoplasm|mammary cancer MONDO:0020210 syndromic hyperopia biolink:Disease mondo UMLS:CN227820|Orphanet:98622 A hyperopia that is part of a larger syndrome. ORPHA:98622|UMLS:CN227820 http://purl.obolibrary.org/obo/MONDO_0020210 syndromic hyperopia|syndrome associated with hyperopia|syndrome associated with hyperopia ordo_group_of_disorders MONDO:0007255 obsolete colorectal cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007255 MONDO:0007252 Gordon syndrome biolink:Disease mondo Orphanet:376|ICD9:579.8|UMLS:C0220666|GARD:0002553|MESH:C537288|SCTID:237850008|ICD10:Q68.8|OMIM:114300 Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. MESH:C537288|ORPHA:376|UMLS:C0220666|SNOMEDCT:237850008|http://identifiers.org/omim/114300 http://purl.obolibrary.org/obo/MONDO_0007252 camptodactyly-cleft palate-clubfoot syndrome|arthrogryposis multiplex congenita, distal, type 2A|distal arthrogryposis type 3|arthrogryposis, distal, type 3; DA3|DA3|distal arthrogryposis type IIA|arthrogryposis distal type 3|arthrogryposis, distal, type 3|camptodactyly, cleft palate, and clubfoot|Gordon syndrome gard_rare|ordo_malformation_syndrome MONDO:0007253 cancer, familial, with in vitro Radioresistance biolink:Disease mondo MESH:C566179|OMIM:114450|UMLS:C1861915 MESH:C566179|UMLS:C1861915|http://identifiers.org/omim/114450 http://purl.obolibrary.org/obo/MONDO_0007253 cancer, familial, with in vitro RADIORESISTANCE MONDO:0007250 camptodactyly of fingers biolink:Disease mondo ICD9:755.59|MESH:C536852|Orphanet:295016|GARD:0009448|MESH:C567780|SCTID:29271008|ICD10:Q68.1|OMIM:114200 Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected. MESH:C567780|SNOMEDCT:29271008|ORPHA:295016|MESH:C536852|http://identifiers.org/omim/114200 http://purl.obolibrary.org/obo/MONDO_0007250 camptodactyly and knuckle pads|minor streblomicrodactyly, familial|streblodactyly|camptodactyly 1|camptodactyly 1; CAMPD1|CAMPD1|crooked little finger, familial|familial streblodactyly ordo_morphological_anomaly|gard_rare MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome biolink:Disease mondo Orphanet:1046|MESH:C563935|ICD10:D58.8|OMIM:600461|UMLS:C1838120|GARD:0002642 Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin. MESH:C563935|ORPHA:1046|http://identifiers.org/omim/600461|UMLS:C1838120 http://purl.obolibrary.org/obo/MONDO_0010891 water-West syndrome|hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities|hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities ordo_malformation_syndrome MONDO:0007251 campomelic dysplasia biolink:Disease mondo UMLS:C1861923|ICD10:Q87.1|UMLS:C1861922|GARD:0010027|DOID:0050463|SCTID:74928006|OMIM:114290|Orphanet:140|NCIT:C84609|MESH:D055036|ICD9:733.29 Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). ORPHA:140|UMLS:C1861922|UMLS:C1861923|DOID:0050463|SNOMEDCT:74928006|NCIT:C84609|http://identifiers.org/omim/114290|MESH:D055036 http://purl.obolibrary.org/obo/MONDO_0007251 CMPD1|Cmpd|CMD|Cmpd1/Sra1|campomelic dwarfism|campomelic dysplasia|campomelic dysplasia with autosomal Sex reversal|acampomelic campomelic dysplasia with autosomal Sex reversal|Cmd1|camptomelic dysplasia|acampomelic campomelic dysplasia ordo_malformation_syndrome MONDO:0010890 acrocardiofacial syndrome biolink:Disease mondo UMLS:C1838121|MESH:C563936|ICD10:Q87.8|Orphanet:2008|OMIM:600460|GARD:0001167 Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. MESH:C563936|ORPHA:2008|http://identifiers.org/omim/600460|UMLS:C1838121 http://purl.obolibrary.org/obo/MONDO_0010890 CCGE syndrome|cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly|cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome|CCGE|acrocardiofacial syndrome|ACFS ordo_malformation_syndrome|gard_rare MONDO:0010893 malignant hyperthermia, susceptibility to, 4 biolink:Disease mondo MESH:C535697|GARD:0003366|OMIM:600467 MESH:C535697|http://identifiers.org/omim/600467 http://purl.obolibrary.org/obo/MONDO_0010893 malignant hyperthermia susceptibility type 4|malignant hyperthermia, susceptibility to, 4|malignant hyperthermia, susceptibility to, type 4|Mhs4|malignant hyperpyrexia susceptibility type 4|MHS4 gard_rare|predisposition MONDO:0020209 rare hyperopia and astigmatism biolink:Disease mondo Orphanet:98621|UMLS:CN227819 UMLS:CN227819|ORPHA:98621 http://purl.obolibrary.org/obo/MONDO_0020209 obsoletion_candidate|ordo_group_of_disorders MONDO:0020208 syndromic myopia biolink:Disease mondo Orphanet:98620|UMLS:CN227818 A myopia (disease) that is part of a larger syndrome. UMLS:CN227818|ORPHA:98620 http://purl.obolibrary.org/obo/MONDO_0020208 syndrome associated with myopia (disease)|syndromic myopia (disease)|syndrome associated with myopia (disease) ordo_group_of_disorders MONDO:0010892 obsolete mitochondrial myopathy and sideroblastic anemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010892 MONDO:0010895 ABCD syndrome biolink:Disease mondo Orphanet:918|MESH:C535334|UMLS:CN206498|UMLS:C1838099|OMIM:600501|DOID:0050600 An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB). DOID:0050600|ORPHA:918|MESH:C535334|UMLS:CN206498|http://identifiers.org/omim/600501|UMLS:C1838099 http://purl.obolibrary.org/obo/MONDO_0010895 albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness|ABCDS|albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness|ABCD syndrome|ABCD syndrome; ABCDS MONDO:0019229 inborn disorder of ketolysis biolink:Disease mondo UMLS:CN227594|ICD10:E71.3|Orphanet:79183 An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process. UMLS:CN227594|ORPHA:79183 http://purl.obolibrary.org/obo/MONDO_0019229 rare inborn error of ketone body catabolic process|disorder of ketolysis|inborn ketone body catabolic process disorder|rare inborn error of ketone body catabolic process|inborn error of ketone body catabolic process ordo_group_of_disorders MONDO:0020207 obsolete rare isolated myopia biolink:Disease mondo UMLS:CN924920|Orphanet:98619 Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. UMLS:CN924920|ORPHA:98619 http://purl.obolibrary.org/obo/MONDO_0020207 obsoletion_candidate|ordo_disease MONDO:0020206 rare refraction anomaly biolink:Disease mondo Orphanet:98618 ORPHA:98618 http://purl.obolibrary.org/obo/MONDO_0020206 ordo_group_of_disorders|obsoletion_candidate MONDO:0019228 inborn disorder of histidine metabolism biolink:Disease mondo DOID:9265|ICD10:E70.40|Orphanet:79181|ICD9:270.5|ICD10:E70.8|ICD10:E70.4 An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process. UMLS:C0268512|ORPHA:79181|DOID:9265 http://purl.obolibrary.org/obo/MONDO_0019228 histidine metabolism disease|disorder of histidine metabolism|rare inborn error of histidine metabolic process|inborn error of histidine metabolic process|inborn histidine metabolic process disorder|inborn error of histidine metabolism|rare inborn error of histidine metabolic process|disturbances of histidine metabolism ordo_group_of_disorders MONDO:0010894 maturity-onset diabetes of the young type 3 biolink:Disease mondo OMIM:600496|SCTID:609570008|DOID:0111102|MESH:C563933|GARD:0010658|NCIT:C129742|UMLS:C1838100 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. MESH:C563933|http://identifiers.org/omim/600496|SNOMEDCT:609570008|DOID:0111102|NCIT:C129742|UMLS:C1838100 http://purl.obolibrary.org/obo/MONDO_0010894 maturity-onset diabetes of the young, type 3; MODY3|HNF1A maturity-onset diabetes of the young (disease)|MODY3|maturity-onset diabetes of the young, type 3|type 3 maturity-onset diabetes of the young|HNF1A-associated monogenic diabetes|diabetes mellitus MODY type 3|MODY type 3|MODY, type 3|MODY hepatocyte nuclear factor-1-alpha related|maturity-onset diabetes of the young (disease) caused by mutation in HNF1A|hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes gard_rare MONDO:0020205 bulbar conjunctival dermoid or conjunctival dermolipoma biolink:Disease mondo Orphanet:98617 ORPHA:98617 http://purl.obolibrary.org/obo/MONDO_0020205 ordo_group_of_disorders MONDO:0010897 SCZD3 biolink:Disease mondo DOID:0070079|UMLS:C1838069|OMIM:600511 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23. UMLS:C1838069|DOID:0070079|http://identifiers.org/omim/600511 http://purl.obolibrary.org/obo/MONDO_0010897 schizophrenia susceptibility locus, chromosome 6-related|schizophrenia 3|schizophrenia 3 with or without an affective disorder|SCZD3|schizophrenia 3; SCZD3 MONDO:0010896 pigment dispersion syndrome biolink:Disease mondo UMLS:C1271398|GARD:0004356|MESH:C563184|SCTID:392133001|DOID:0060680|OMIM:600510 Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed. MESH:C563184|DOID:0060680|http://identifiers.org/omim/600510|UMLS:C1271398|SNOMEDCT:392133001 http://purl.obolibrary.org/obo/MONDO_0010896 glaucoma, pigment-dispersion type|glaucoma-RELATED pigment dispersion syndrome; GPDS1|pigment-dispersion syndrome|pigment-dispersion type glaucoma|pigment dispersion syndrome|glaucoma-related pigment dispersion syndrome|glaucoma-RELATED pigment dispersion syndrome|GPDS1 gard_rare MONDO:0020204 conjunctival tumor biolink:Disease mondo Orphanet:98616|NCIT:C2961 A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma. NCIT:C2961|ORPHA:98616 http://purl.obolibrary.org/obo/MONDO_0020204 conjunctival neoplasm|neoplasm of conjunctiva|conjunctiva tumor|tumor of the conjunctiva|conjunctival tumor|conjunctiva neoplasm (disease)|conjunctival neoplasms|conjunctiva neoplasm|tumor of conjunctiva|neoplasm of the conjunctiva ordo_group_of_disorders GO:0042359 vitamin D metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). http://purl.obolibrary.org/obo/GO_0042359 cholecalciferol metabolism|ergocalciferol metabolism|ergocalciferol metabolic process|cholecalciferol metabolic process|calciferol metabolic process|vitamin D metabolism|calciferol metabolism MONDO:0019225 gluconeogenesis disorder biolink:Disease mondo UMLS:CN227592|Orphanet:79177|ICD10:E74.4 An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis. UMLS:CN227592|ORPHA:79177 http://purl.obolibrary.org/obo/MONDO_0019225 inborn gluconeogenesis disorder|rare inborn error of gluconeogenesis|inborn error of gluconeogenesis|rare inborn error of gluconeogenesis ordo_group_of_disorders MONDO:0022866 corneal dystrophy pigmentary anomaly malabsorption biolink:Disease mondo GARD:0001530 http://purl.obolibrary.org/obo/MONDO_0022866 gard_rare MONDO:0019224 inborn disorder of gamma-aminobutyric acid metabolism biolink:Disease mondo UMLS:CN227591|Orphanet:79175|ICD10:E72.8 An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process. UMLS:CN227591|ORPHA:79175 http://purl.obolibrary.org/obo/MONDO_0019224 disorder of gamma-aminobutyric acid metabolism|disorder of GABA metabolism|inborn gamma-aminobutyric acid metabolic process disorder|rare inborn error of gamma-aminobutyric acid metabolic process|inborn error of gamma-aminobutyric acid metabolic process|rare inborn error of gamma-aminobutyric acid metabolic process ordo_group_of_disorders MONDO:0019227 inborn disorder of glycerol metabolism biolink:Disease mondo Orphanet:79179 An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process. ORPHA:79179|UMLS:C0342762 http://purl.obolibrary.org/obo/MONDO_0019227 disorder of glycerol metabolism|inborn glycerol metabolic process disorder|inborn error of glycerol metabolic process|rare inborn error of glycerol metabolic process|rare inborn error of glycerol metabolic process ordo_group_of_disorders MONDO:0022869 coronary arteries congenital malformation biolink:Disease mondo GARD:0001534 http://purl.obolibrary.org/obo/MONDO_0022869 gard_rare MONDO:0019226 glucose transport disorder biolink:Disease mondo UMLS:CN227593|Orphanet:79178|ICD10:E74.8 An acquired metabolic disease that is has its basis in the disruption of glucose transport. UMLS:CN227593|ORPHA:79178 http://purl.obolibrary.org/obo/MONDO_0019226 inborn error of glucose transport|rare inborn error of glucose transport ordo_group_of_disorders MONDO:0019221 obsolete creatine deficiency syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019221 MONDO:0019220 inborn disorder of cobalamin metabolism and transport biolink:Disease mondo Orphanet:79171|UMLS:CN043592|UMLS:CN227587 UMLS:CN227587|UMLS:CN043592|ORPHA:79171 http://purl.obolibrary.org/obo/MONDO_0019220 disorder of cobalamin metabolism and transport ordo_group_of_disorders MONDO:0019223 inborn disorder of fatty acid oxidation and ketone body metabolism biolink:Disease mondo UMLS:CN227590|Orphanet:79174|ICD10:E71.3 UMLS:CN227590|ORPHA:79174 http://purl.obolibrary.org/obo/MONDO_0019223 disorder of fatty acid oxidation and ketone body metabolism ordo_group_of_disorders HGNC:19750 TTC7A biolink:OntologyClass mondo http://identifiers.org/hgnc/19750 MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism biolink:Disease mondo ICD10:E72.1|Orphanet:79173|UMLS:CN227589|ICD9:270.4|SCTID:28882002 An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. UMLS:CN227589|ORPHA:79173|SNOMEDCT:28882002 http://purl.obolibrary.org/obo/MONDO_0019222 cytosolic methyl group transfer or sulfur amino acid metabolism disorder|rare inborn error of sulfur amino acid metabolic process|inborn error of sulfur amino acid metabolic process|disorder of methionine cycle and sulfur amino acid metabolism|rare inborn error of sulfur amino acid metabolic process|inborn sulfur amino acid metabolic process disorder ordo_group_of_disorders MONDO:0010918 EIG1 biolink:Disease mondo MESH:C562694|ICD9:345.10|SCTID:36803009|OMIM:600669 http://identifiers.org/omim/600669|SNOMEDCT:36803009|MESH:C562694 http://purl.obolibrary.org/obo/MONDO_0010918 EIG|epilepsy, idiopathic generalized, susceptibility to, 1 predisposition MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency biolink:Disease mondo GARD:0004595|UMLS:C1968602|OMIM:265120|Orphanet:217563|MESH:C566882|ICD10:P28.0 http://identifiers.org/omim/265120|UMLS:C1968602|ORPHA:217563|MESH:C566882 http://purl.obolibrary.org/obo/MONDO_0009929 surfactant metabolism dysfunction, pulmonary, type 1|pulmonary alveolar proteinosis, congenital, 1|interstitial lung disease due to surfactant Protein B deficiency|interstitial lung disease, nonspecific, due to surfactant Protein B deficiency|surfactant metabolism dysfunction, pulmonary, 1|SMDP1|neonatal acute respiratory distress due to surfactant protein B deficiency|surfactant metabolism dysfunction, pulmonary, 1; SMDP1|pulmonary surfactant protein B, deficiency of gard_rare|ordo_disease MONDO:0009928 pulmonary alveolar microlithiasis biolink:Disease mondo ICD10:J84.0|Orphanet:60025|ICD10:J84.02|ICD9:516.2|OMIM:265100|MedDRA:10037315|COHD:437906|UMLS:C0155912|SCTID:87153008|GARD:0011894|DOID:12117|MESH:C562405 Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner. UMLS:C0155912|MESH:C562405|MEDDRA:10037315|ORPHA:60025|DOID:12117|SNOMEDCT:87153008|http://identifiers.org/omim/265100 http://purl.obolibrary.org/obo/MONDO_0009928 pulmonary alveolar microlithiasis ordo_disease|gard_rare MONDO:0010917 CCAL1 biolink:Disease mondo OMIM:600668|GARD:0006048|MESH:C535938 http://identifiers.org/omim/600668|MESH:C535938 http://purl.obolibrary.org/obo/MONDO_0010917 chondrocalcinosis 1|chondrocalcinosis with early-onset osteoarthritis|chondrocalcinosis 1; CCAL1|CCAL1 MONDO:0009927 3MC syndrome 2 biolink:Disease mondo EFO:1001977|OMIM:265050|DOID:0060576|Orphanet:2998|MESH:C535586 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene. ORPHA:2998|MESH:C535586|DOID:0060576|http://identifiers.org/omim/265050 http://purl.obolibrary.org/obo/MONDO_0009927 ptosis of eyelids with diastasis recti and hip dysplasia|3Mc syndrome type 2|COLEC11 3MC syndrome|oculo-skeletal-abdominal syndrome|3MC syndrome 2|3MC syndrome 2; 3MC2|Osa syndrome|Carnevale syndrome, formerly|3MC syndrome caused by mutation in COLEC11|Carnevale syndrome|3MC2|3MC syndrome type 2 MONDO:0009926 autosomal recessive multiple pterygium syndrome biolink:Disease mondo NCIT:C101039|GARD:0007111|ICD10:Q79.8|SCTID:80773006|OMIM:265000|Orphanet:2990|UMLS:CN203342|ICD9:759.89 A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant. UMLS:CN203342|SNOMEDCT:80773006|ORPHA:2990|NCIT:C101039|http://identifiers.org/omim/265000 http://purl.obolibrary.org/obo/MONDO_0009926 autosomal recessive non-lethal multiple pterygium syndrome|multiple pterygium syndrome, autosomal recessive|multiple pterygium syndrome nonlethal type|multiple pterygium syndrome, ESCOBAR variant; EVMPS|autosomal recessive multiple pterygium syndrome|Escobar variant multiple pterygium syndrome|multiple pterygium syndrome Escobar type|pterygium Universale|multiple pterygium syndrome, Nonlethal type|pterygium colli syndrome|multiple pterygium syndrome, ESCOBAR variant|multiple pterygium syndrome|pterygium syndrome|EVMPS|Escobar syndrome|pterygium universale gard_rare|ordo_malformation_syndrome MONDO:0010919 varicella, severe recurrent biolink:Disease mondo MESH:C563458|OMIM:600670|UMLS:C1833487 UMLS:C1833487|http://identifiers.org/omim/600670|MESH:C563458 http://purl.obolibrary.org/obo/MONDO_0010919 varicella, severe recurrent HGNC:2309 CPLX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2309 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum biolink:Disease mondo UMLS:C0033847|DOID:2738|NCIT:C85036|SCTID:72744008|ICD9:757.39|MESH:D011561|ICD10:Q82.8|SCTID:402782006|Orphanet:758|OMIM:264800|MedDRA:10037150 An autosomal recessive form of PXE. SNOMEDCT:72744008|MEDDRA:10037150|UMLS:C0033847|http://identifiers.org/omim/264800|SNOMEDCT:402782006|ORPHA:758|MESH:D011561|NCIT:C85036|DOID:2738 http://purl.obolibrary.org/obo/MONDO_0009925 PXE, modifier of severity of|Gronblad-Strandberg syndrome|PXE|AR inherited pseudoxanthoma elasticum|pseudoxanthoma elasticum; PXE|pseudoxanthoma elasticum, modifier of severity of|Gronblad-Strandberg-Touraine syndrome|pseudoxanthoma elasticum|Gronblad Strandberg syndrome gard_rare|ordo_disease MONDO:0009924 vitamin D-dependent rickets, type 1 biolink:Disease mondo SCTID:67049004|MESH:C562688|NCIT:C131073|Orphanet:289157|ICD10:E55.0 Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia. NCIT:C131073|ORPHA:289157|SNOMEDCT:67049004|MESH:C562688 http://purl.obolibrary.org/obo/MONDO_0009924 VDDR-I|vitamin D 1 Alpha-Hydroxylase deficiency|VDDR1|hypocalcemic vitamin D-dependent rickets|PDDRI|vitamin D dependency, type 1|vitamin D-dependency type I|pseudovitamin D-deficient rickets|VDDI|selective 1-alpha, 25-hydroxyvitamin D3 deficiency|1-alpha-hydroxylase deficiency|1 Alpha-hydroxylase deficiency|vitamin D-dependent rickets type 1|pseudo vitamin-D deficient rickets|vitamin D dependent rickets type I ordo_disease MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency biolink:Disease mondo GARD:0005680|SCTID:57514000|MESH:C535830|Orphanet:753|OMIM:264600|ICD10:Q56.1|MedDRA:10000029|NCIT:C98699 A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. http://identifiers.org/omim/264600|SNOMEDCT:57514000|ORPHA:753|MESH:C535830|NCIT:C98699|MEDDRA:10000029 http://purl.obolibrary.org/obo/MONDO_0009923 5-alpha reductase deficiency|pseudovaginal perineoscrotal hypospadias|steroid 5-alpha-reductase deficiency|PPSH|familial incomplete Male pseudohermaphroditism, type 2|5 Alpha steroid reductase 2 deficiency|micropenis|pseudovaginal perineoscrotal hypospadias; PPSH|Male pseudohermaphroditism due to 5-Alpha-reductase deficiency|3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency|Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency|46,XY DSD due to 5-alpha-reductase 2 deficiency ordo_disease MONDO:0009922 Pseudouridinuria and mental defect biolink:Disease mondo MESH:C564864|UMLS:C1849648|OMIM:264500 http://identifiers.org/omim/264500|MESH:C564864|UMLS:C1849648 http://purl.obolibrary.org/obo/MONDO_0009922 Pseudouridinuria and mental defect MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome biolink:Disease mondo UMLS:C1849649|OMIM:264480|SCTID:716091000|ICD10:Q87.8|GARD:0000344|NCIT:C125418|Orphanet:2166|MESH:C535829 Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. http://identifiers.org/omim/264480|ORPHA:2166|SNOMEDCT:716091000|MESH:C535829|UMLS:C1849649|NCIT:C125418 http://purl.obolibrary.org/obo/MONDO_0009921 pseudo-trisomy 13 syndrome|holoprosencephaly polydactyly syndrome|holoprosencephaly-polydactyly syndrome|Young-Maders syndrome|PSEUDOTRISOMY 13 syndrome|pseudo trisomy 13 syndrome ordo_malformation_syndrome MONDO:0010910 ENUR1 biolink:Disease mondo OMIM:600631 Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder. http://identifiers.org/omim/600631 http://purl.obolibrary.org/obo/MONDO_0010910 Bedwetting|enuresis, nocturnal, 1; ENUR1|ENUR1|enuresis, nocturnal, 1 MONDO:0009920 Acrootoocular syndrome biolink:Disease mondo MESH:C564866|Orphanet:2980|SCTID:720410001|UMLS:C1849661|OMIM:264475|ICD10:Q87.0 Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. ORPHA:2980|SNOMEDCT:720410001|MESH:C564866|UMLS:C1849661|http://identifiers.org/omim/264475 http://purl.obolibrary.org/obo/MONDO_0009920 pseudopapilledema-blepharophimosis-hand anomalies syndrome|Aoo syndrome|acrootoocular syndrome|pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies ordo_malformation_syndrome MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement biolink:Disease mondo UMLS:C2748801|MESH:C567572|OMIM:600638 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene. UMLS:C2748801|http://identifiers.org/omim/600638|MESH:C567572 http://purl.obolibrary.org/obo/MONDO_0010912 congenital fibrosis of extraocular muscles caused by mutation in TUBB3|fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; CFEOM3A|CFEOM3A|fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|Feom3 locus|TUBB3 congenital fibrosis of extraocular muscles MONDO:0010911 prolactin-producing pituitary gland adenoma biolink:Disease mondo EFO:1000496|GARD:0004508|NCIT:C3342|MESH:D015175|ICD10:D35.2|DOID:5394|MedDRA:10036832|ICD10:E22.1|ICDO:8271/0|SCTID:134209002|Orphanet:2965|UMLS:C0033375|OMIM:600634 Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. MEDDRA:10036832|ORPHA:2965|SNOMEDCT:134209002|UMLS:C0033375|MESH:D015175|NCIT:C3342|http://identifiers.org/omim/600634|DOID:5394 http://purl.obolibrary.org/obo/MONDO_0010911 pituitary gland prolactinoma|familial prolactinoma|prolactin secreting pituitary gland adenoma|prolactin-secreting pituitary adenoma|lactotroph adenoma|lactotrope adenoma|prolactin-producing pituitary gland adenoma|Forbes-Albright syndrome (formerly)|prolactin secreting pituitary adenoma|pituitary adenoma, prolactin-secreting|PRL producing pituitary gland adenoma|prolactinoma of the pituitary gland|prolactin secreting adenoma|prolactin producing pituitary gland adenoma|prolactin producing adenoma of the pituitary gland|prolactinoma of the pituitary|prolactin producing adenoma of pituitary gland|prolactin producing pituitary adenoma|prolactin producing adenoma of the pituitary|prolactinoma of pituitary|prolactin producing adenoma of pituitary|prolactin secreting adenoma of the pituitary gland|pituitary lactotrophic adenoma|prolactin secreting adenoma of pituitary gland|prolactinoma|prolactin secreting adenoma of the pituitary|prolactin secreting adenoma of pituitary|lactotroph cell adenoma|pituitary prolactinoma|prolactinoma, familial|PRL-secreting pituitary adenoma|PRLoma|prolactinoma of pituitary gland ordo_disease MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form biolink:Disease mondo Orphanet:228305|MESH:C563462|OMIM:600649|UMLS:C1833511|ICD10:E71.3 The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. http://identifiers.org/omim/600649|MESH:C563462|ORPHA:228305|UMLS:C1833511 http://purl.obolibrary.org/obo/MONDO_0010914 Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular|Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form|Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia|CPT 2 deficiency, hepatic|Cpt2 deficiency, infantile|Carnitine Palmitoyltransferase 2 deficiency, infantile|CPTII, hepatocardiomuscular form|CPTII, severe infantile form|CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile|Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|CPT2, hepatocardiomuscular form|Carnitine palmitoyl transferase deficiency type 2, severe infantile form|CPT2, severe infantile form ordo_clinical_subtype MONDO:0010913 Caroli disease biolink:Disease mondo DOID:0050876|MedDRA:10013003|UMLS:C1833541|SCTID:717232005|ICD10:Q44.6|EFO:1001286|UMLS:C0162510|MESH:D016767|NCIT:C84619|GARD:0006002|OMIM:600643|Orphanet:53035 Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts. SNOMEDCT:717232005|http://identifiers.org/omim/600643|UMLS:C0162510|DOID:0050876|ORPHA:53035|MEDDRA:10013003|NCIT:C84619|MESH:D016767|MESH:C531647|UMLS:C1833541 http://purl.obolibrary.org/obo/MONDO_0010913 CAROLI disease, isolated|cystic dilatation of the intrahepatic biliary tree|Caroli disease isolated|congenital polycystic dilatation of intrahepatic bile ducts ordo_malformation_syndrome|gard_rare MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease biolink:Disease mondo OMIM:600666|DOID:0110860|UMLS:C3887964 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. http://identifiers.org/omim/600666|UMLS:C3887964|DOID:0110860 http://purl.obolibrary.org/obo/MONDO_0010916 polycystic kidney disease type 3|Apkd3|polycystic kidney disease 3, autosomal dominant; PKD3|Pkd3|autosomal dominant polycystic kidney disease caused by mutation in GANAB|polycystic kidney disease 3, autosomal dominant|polycystic kidney disease 3|PKD3|polycystic kidney disease, adult, type 3|polycystic kidney disease, adult, type III|polycystic kidney disease, type 3|GANAB autosomal dominant polycystic kidney disease|polycystic kidney disease 3 with or without polycystic liver disease; PKD3 MONDO:0010915 autosomal dominant nonsyndromic deafness 4A biolink:Disease mondo MESH:C563460|OMIM:600652|UMLS:C1833503|ICD10:H90.3|DOID:0110573 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene. http://identifiers.org/omim/600652|DOID:0110573|MESH:C563460|UMLS:C1833503 http://purl.obolibrary.org/obo/MONDO_0010915 DFNA4A|deafness, autosomal dominant 4|autosomal dominant nonsyndromic deafness type 4A|MYH14 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 4A|deafness, autosomal dominant type 4A|deafness, autosomal dominant 4A; DFNA4A|autosomal dominant deafness 4A|autosomal dominant nonsyndromic deafness caused by mutation in MYH14 UBERON:0004141 heart tube biolink:AnatomicalEntity mondo An epithelial tube that will give rise to the mature heart. http://purl.obolibrary.org/obo/UBERON_0004141 endocardial heart tube|endocardial tube|embryonic heart tube UBERON:0004142 outflow tract septum biolink:AnatomicalEntity mondo The outflow tract septum is a partition in the outflow tract http://purl.obolibrary.org/obo/UBERON_0004142 UBERON:0004140 primary heart field biolink:AnatomicalEntity mondo A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. http://purl.obolibrary.org/obo/UBERON_0004140 primary heart field|FHF|first heart field|heart field|PHF HGNC:4976 HLCS biolink:OntologyClass mondo http://identifiers.org/hgnc/4976 HP:0100806 Sepsis biolink:PhenotypicFeature mondo UMLS:C0036690|MSH:D018805 Systemic inflammatory response to infection. http://purl.obolibrary.org/obo/HP_0100806 Infection in blood stream HGNC:2312 CPN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2312 UBERON:0004148 cardiac vein biolink:AnatomicalEntity mondo Vein of heart that drains the myocardium http://purl.obolibrary.org/obo/UBERON_0004148 coronary vein|heart vein|coronary vein|vein of heart|cardiac vein UBERON:0004145 outflow tract biolink:AnatomicalEntity mondo The outflow tract is the portion of the heart through which blood flows into the arteries http://purl.obolibrary.org/obo/UBERON_0004145 cardiac outflow tract|arterial (outflow) pole|heart outflow tract HP:0002493 Upper motor neuron dysfunction biolink:PhenotypicFeature mondo UMLS:C1839042|UMLS:C1504405 A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. http://purl.obolibrary.org/obo/HP_0002493 Pyramidal tract dysfunction|Corticospinal tract dysfunction MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency biolink:Disease mondo Orphanet:2971|OMIM:264470|GARD:0004543|ICD10:E71.3|SCTID:238069004|MESH:C536662|DOID:0050797|UMLS:C1849678|ICD9:255.41 Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. UMLS:C1849678|http://identifiers.org/omim/264470|SNOMEDCT:238069004|ORPHA:2971|DOID:0050797|MESH:C536662|UMLS:C0342871 http://purl.obolibrary.org/obo/MONDO_0009919 Pseudoneonatal adrenoleukodystrophy|peroxisomal acyl-coenzyme A oxidase|pseudo-NALD|straight-chain acyl-Coa oxidase deficiency|peroxisomal acyl-CoA oxidase deficiency|Pseudoadrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy ordo_disease UBERON:0004146 His-Purkinje system biolink:AnatomicalEntity mondo The His-Purkinje system receives signals from the AV node and is composed of the fibers that regulate cardiac muscle contraction in the ventricles http://purl.obolibrary.org/obo/UBERON_0004146 HPS|His-Purkinji network MONDO:0010907 familial hypertryptophanemia biolink:Disease mondo Orphanet:2224|UMLS:C2931837|SCTID:721838005|OMIM:600627|GARD:0002871|UMLS:C1833562|ICD10:E70.8|MESH:C538393 Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria. ORPHA:2224|MESH:C538393|UMLS:C1833562|http://identifiers.org/omim/600627|SNOMEDCT:721838005|UMLS:C2931837 http://purl.obolibrary.org/obo/MONDO_0010907 hypertryptophanemia|HYPTRP|hypertryptophanemia, familial|hypertryptophanemia; HYPTRP ordo_disease|gard_rare MONDO:0009939 pulmonic stenosis and congenital nephrosis biolink:Disease mondo SCTID:236530006|OMIM:265600|MESH:C562895|UMLS:C0403552 http://identifiers.org/omim/265600|MESH:C562895|SNOMEDCT:236530006|UMLS:C0403552 http://purl.obolibrary.org/obo/MONDO_0009939 pulmonic stenosis and congenital nephrosis MONDO:0010906 orofacial cleft 11 biolink:Disease mondo OMIM:600625|UMLS:C2677434 Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene. UMLS:C2677434|http://identifiers.org/omim/600625 http://purl.obolibrary.org/obo/MONDO_0010906 orofacial cleft caused by mutation in BMP4|cleft Lip, congenital Healed|orofacial cleft type 11|congenital Healed cleft lip|orofacial cleft 11|BMP4 orofacial cleft|orofacial cleft 11; OFC11|OFC11|cleft lip with or without cleft palate, nonsyndromic, 11 MONDO:0010909 UV-sensitive syndrome 1 biolink:Disease mondo OMIM:600630|UMLS:C3551173 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene. http://identifiers.org/omim/600630|UMLS:C3551173 http://purl.obolibrary.org/obo/MONDO_0010909 UVSS1|UV-sensitive syndrome type 1|UV-sensitive syndrome 1|ERCC6 UV-sensitive syndrome|UV-sensitive syndrome 1; UVSS1|UV-sensitive syndrome caused by mutation in ERCC6 MONDO:0009938 pulmonic stenosis (disease) biolink:Disease mondo OMIM:265500|GARD:0010071|UMLS:C1956257|HP:0001642 UMLS:C1956257|http://identifiers.org/omim/265500 http://purl.obolibrary.org/obo/MONDO_0009938 valvular pulmonic stenosis|pulmonic stenosis|pulmonary stenosis MONDO:0009937 pulmonary venoocclusive disease biolink:Disease mondo SCTID:89420002|MedDRA:10037458|UMLS:C0034091|ICD9:416.8|OMIMPS:265450|Orphanet:31837|GARD:0010153|NCIT:C85039|DOID:5453|MESH:D011668 A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. MEDDRA:10037458|DOID:5453|SNOMEDCT:89420002|ORPHA:31837|MESH:D011668|NCIT:C85039|UMLS:C0034091 http://purl.obolibrary.org/obo/MONDO_0009937 PVOD|pulmonary veno-occlusive disease|obstructive disease of the pulmonary veins gard_rare|prototype_pattern|ordo_disease MONDO:0010908 loose anagen syndrome biolink:Disease mondo MESH:D058247|ICD10:L65.1|ICD9:704.8|GARD:0003287|SCTID:238735005|Orphanet:168|OMIM:600628|UMLS:C0406468 Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma. UMLS:C0406468|http://identifiers.org/omim/600628|ORPHA:168|SNOMEDCT:238735005|MESH:D058247 http://purl.obolibrary.org/obo/MONDO_0010908 loose anagen hair syndrome ordo_disease MONDO:0009936 familial primary pulmonary hypoplasia biolink:Disease mondo Orphanet:2257|ICD9:748.5|SCTID:277656005|ICD10:Q33.6|UMLS:CN226916|OMIM:265430 Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life. ORPHA:2257|UMLS:CN226916|SNOMEDCT:277656005|http://identifiers.org/omim/265430 http://purl.obolibrary.org/obo/MONDO_0009936 pulmonary hypoplasia, primary|lung agenesis|primary pulmonary hypoplasia ordo_malformation_syndrome MONDO:0009935 pulmonary hypertension, primary, autosomal recessive biolink:Disease mondo OMIM:265400|MESH:C564862|UMLS:C1849552 MESH:C564862|UMLS:C1849552|http://identifiers.org/omim/265400 http://purl.obolibrary.org/obo/MONDO_0009935 pulmonary hypertension, primary, autosomal recessive MONDO:0009934 congenital alveolar capillary dysplasia biolink:Disease mondo MESH:C536590|ICD9:747.83|NCIT:C98809|EFO:1001103|Orphanet:210122|MESH:D010547|COHD:197970|ICD9:747.49|ICD10:P29.3|OMIM:265380|UMLS:C0031190|GARD:0008644|DOID:13042|MedDRA:10054726|SCTID:447275002 Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension. UMLS:C0031190|SNOMEDCT:447275002|DOID:13042|MESH:C536590|ORPHA:210122|MESH:D010547|NCIT:C98809|http://identifiers.org/omim/265380 http://purl.obolibrary.org/obo/MONDO_0009934 alveolar capillary dysplasia|ACDMPV|alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies|congenital alveolar capillary dysplasia with misalignment of pulmonary veins|familial persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with misalignment of pulmonary vessels|fetal circulation|persistent fetal circulation|pulmonary hypertension, familial persistent of the newborn|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies|congenital alveolar capillary dysplasia|persistent fetal circulation syndrome|persistent fetal circulation syndrome|alveolar capillary dysplasia with pulmonary venous misalignment|persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with misalignment of pulmonary veins; ACDMPV ordo_disease|gard_rare MONDO:0009933 congenital pulmonary lymphangiectasia biolink:Disease mondo NCIT:C99034|UMLS:C1849554|GARD:0009900|ICD10:Q33.8|SCTID:45142002|OMIM:265300|Orphanet:2414|MESH:C537727 Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. SNOMEDCT:45142002|ORPHA:2414|MESH:C537727|NCIT:C99034|UMLS:C0265800|UMLS:C1849554|http://identifiers.org/omim/265300 http://purl.obolibrary.org/obo/MONDO_0009933 lymphangiomatosis pulmonary|lymphangiectasia pulmonary congenital|pulmonary lymphangiomatosis|pulmonary cystic lymphangiectasis|lymphangiectasia, pulmonary, congenital; CPL|congenital pulmonary lymphangiectasis|lymphangiomatosis, pulmonary|lymphangiectasia, pulmonary, congenital|CPL gard_rare|ordo_disease MONDO:0009932 pulmonary bullae causing pneumothorax biolink:Disease mondo OMIM:265200|MESH:C564863|UMLS:C1849566 MESH:C564863|UMLS:C1849566|http://identifiers.org/omim/265200 http://purl.obolibrary.org/obo/MONDO_0009932 pulmonary bullae causing pneumothorax MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome biolink:Disease mondo ICD10:Q22.6|Orphanet:1208|OMIM:265150|NCIT:C99032|UMLS:C0344975|SCTID:253590009|GARD:0004600|MESH:C562832 Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation. ORPHA:1208|SNOMEDCT:253590009|UMLS:C0344975|NCIT:C99032|http://identifiers.org/omim/265150|MESH:C562832 http://purl.obolibrary.org/obo/MONDO_0009931 pulmonary atresia with intact ventricular septum|pulmonary valve atresia with intact ventricular septum ordo_morphological_anomaly HGNC:4979 MNX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4979 MONDO:0010901 HEC syndrome biolink:Disease mondo MESH:C535855|GARD:0002620|OMIM:600559|Orphanet:2119|SCTID:721015008|UMLS:C1833607|ICD10:Q87.8 HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. http://identifiers.org/omim/600559|SNOMEDCT:721015008|MESH:C535855|ORPHA:2119|UMLS:C1833607 http://purl.obolibrary.org/obo/MONDO_0010901 HEC syndrome|communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts|hydrocephalus, endocardial fibroelastosis, and cataracts|hydrocephalus-endocardial fibroelastosis-cataract syndrome gard_rare|ordo_malformation_syndrome MONDO:0009930 pulmonary arteriovenous malformation (disease) biolink:Disease mondo OMIM:265140|UMLS:C0155675|MedDRA:10037332|ICD10:Q25.7|GARD:0004584|SCTID:303070000|Orphanet:2038|HP:0006548|COHD:4119302|NCIT:C99029|MESH:C562404 Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms. NCIT:C99029|UMLS:C0155675|MESH:C562404|http://identifiers.org/omim/265140|SNOMEDCT:303070000|MEDDRA:10037332|ORPHA:2038 http://purl.obolibrary.org/obo/MONDO_0009930 pulmonar arteriovenous aneurysm|pulmonary arteriovenous fistula|arteriovenous fistula of pulmonary vessels|pulmonary arteriovenous fistulas|pulmonary AV fistula|pulmonary arteriovenous malformation|pulmonary arterio-veinous fistula|PAVM ordo_morphological_anomaly MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity biolink:Disease mondo MESH:C536744|GARD:0005593|OMIM:600546 http://identifiers.org/omim/600546|MESH:C536744 http://purl.obolibrary.org/obo/MONDO_0010900 intrauterine growth retardation with increased mitomycin c sensitivity gard_rare MONDO:0010903 craniosynostosis, Adelaide type biolink:Disease mondo MESH:C563471|OMIM:600593|UMLS:C1833578 UMLS:C1833578|http://identifiers.org/omim/600593|MESH:C563471 http://purl.obolibrary.org/obo/MONDO_0010903 CRSA|craniosynostosis, Adelaide type; CRSA|craniosynostosis, Adelaide type MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type biolink:Disease mondo OMIM:600561|Orphanet:163662|UMLS:C1833603|MESH:C563472|SCTID:718764004|ICD10:Q77.7 Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. UMLS:C1833603|http://identifiers.org/omim/600561|ORPHA:163662|MESH:C563472|SNOMEDCT:718764004 http://purl.obolibrary.org/obo/MONDO_0010902 spondyloepiphyseal dysplasia with atlantoaxial instability ordo_disease MONDO:0010905 cone-rod dystrophy 1 biolink:Disease mondo MESH:C563469|UMLS:C1833564|GARD:0010651|DOID:0111009|OMIM:600624 UMLS:C1833564|http://identifiers.org/omim/600624|DOID:0111009|MESH:C563469 http://purl.obolibrary.org/obo/MONDO_0010905 cone-rod dystrophy type 1|cone-rod dystrophy 1; CORD1|Crd1|CORD1|cone-rod dystrophy 1|CRD1 gard_rare MONDO:0010904 setting-Sun phenomenon, familial benign biolink:Disease mondo OMIM:600598|MESH:C563470|UMLS:C1833577 UMLS:C1833577|http://identifiers.org/omim/600598|MESH:C563470 http://purl.obolibrary.org/obo/MONDO_0010904 setting-Sun phenomenon, familial benign UBERON:0004133 salivatory nucleus biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0004133 salivary nucleus HGNC:4982 HMBS biolink:OntologyClass mondo http://identifiers.org/hgnc/4982 UBERON:0004130 cerebellar layer biolink:AnatomicalEntity mondo A cortical cell layer of the cerebellum. Examples: the granular (inner+outer) layer, molecular layer, Purkinje cell layer, and the ventricular layer of the embryo. http://purl.obolibrary.org/obo/UBERON_0004130 layer of cerebellar cortex|cell layer of cerebellar cortex|layer of cerebellum|cytoarchitectural part of the cerebellar cortex|gray matter layer of cerebellum HGNC:19857 ISCA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19857 UBERON:0004139 cardiogenic plate biolink:AnatomicalEntity mondo The first recognizable structure derived from the heart field http://purl.obolibrary.org/obo/UBERON_0004139 myocardial plate|cardiac crescent|cardiogenic crescent|heart rudiment HGNC:2323 CPS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2323 UBERON:0004136 intermediate tubule biolink:AnatomicalEntity mondo The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules http://purl.obolibrary.org/obo/UBERON_0004136 tubulus attenuatus|renal intermediate tubule UBERON:0006799 glandular epithelium biolink:AnatomicalEntity mondo An epithelium that is composed primarily of secretory cells. http://purl.obolibrary.org/obo/UBERON_0006799 HGNC:2321 CPOX biolink:OntologyClass mondo http://identifiers.org/hgnc/2321 UBERON:0004134 proximal tubule biolink:AnatomicalEntity mondo In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. http://purl.obolibrary.org/obo/UBERON_0004134 kidney proximal tubule|proximal kidney tubule|renal proximal tubule UBERON:0004135 distal tubule biolink:AnatomicalEntity mondo The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments http://purl.obolibrary.org/obo/UBERON_0004135 renal distal tubule|kidney distal tubule MONDO:0009907 Prepapillary vascular loops biolink:Disease mondo OMIM:264060|SCTID:424728002|MESH:C563287 MESH:C563287|http://identifiers.org/omim/264060|SNOMEDCT:424728002 http://purl.obolibrary.org/obo/MONDO_0009907 Prepapillary vascular loops|preretinal vascular loops MONDO:0009906 prenatal bowing biolink:Disease mondo MESH:C564873|OMIM:264050 MESH:C564873|http://identifiers.org/omim/264050 http://purl.obolibrary.org/obo/MONDO_0009906 prenatal bowing MONDO:0009905 urban-Rogers-Meyer syndrome biolink:Disease mondo GARD:0005426|SCTID:716334004|UMLS:C0796189|MESH:C538276|OMIM:264010|ICD10:Q87.8|Orphanet:3409 This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. http://identifiers.org/omim/264010|UMLS:C0796189|ORPHA:3409|MESH:C538276|SNOMEDCT:716334004 http://purl.obolibrary.org/obo/MONDO_0009905 intellectual disability-short stature-hand contractures-genital anomalies syndrome|Prader-Willi habitus, osteopenia, and camptodactyly|urban-Rogers-Meyer syndrome|Prader-Willi habitus-osteopenia-camptodactyly syndrome ordo_malformation_syndrome MONDO:0009904 Gitelman syndrome biolink:Disease mondo OMIM:263800|MESH:D053579|DOID:0050450|SCTID:707756004|ICD9:275.49|NCIT:C84730|UMLS:C0268450|MedDRA:10062906|ICD10:N15.8|GARD:0008547|Orphanet:358 Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. MEDDRA:10062906|NCIT:C84730|UMLS:C0268450|SNOMEDCT:707756004|http://identifiers.org/omim/263800|DOID:0050450|ORPHA:358|MESH:D053579 http://purl.obolibrary.org/obo/MONDO_0009904 GTLMNS|Gitelman syndrome; GTLMNS|Gitelman syndrome|Gitelman's syndrome|primary renal tubular hypokalemic hypomagnesemia with hypocalciuria|hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|Potassium and magnesium depletion|familial hypokalemia-hypomagnesemia ordo_disease|gard_rare MONDO:0009903 postaxial acrofacial dysostosis biolink:Disease mondo ICD9:759.89|OMIM:263750|MESH:C537680|GARD:0008410|SCTID:66038001|Orphanet:246|UMLS:C0265257|ICD10:Q75.4 Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. http://identifiers.org/omim/263750|ORPHA:246|MESH:C537680|UMLS:C0265257|SNOMEDCT:66038001 http://purl.obolibrary.org/obo/MONDO_0009903 Mandibulfacial dysostosis with postaxial limb anomalies|Genee-Wiedemann syndrome|Wildervanck-Smith syndrome|POADS|postaxial acrofacial dysostosis|postaxial acrodysostosis|GWAFD|acrofacial dysostosis, Genee-Wiedmann type|Genee-Wiedemann acrofacial dysostosis|POADS syndrome|postaxial acrofacial dysostosis (POADS) syndrome|Miller syndrome|postaxial acrofacial dysostosis; POADS ordo_malformation_syndrome MONDO:0009902 cutaneous porphyria biolink:Disease mondo SCTID:67312003|GARD:0004446|MESH:D017092|Orphanet:79277|OMIM:263700|DOID:13271|NCIT:C84697|ICD10:E80.0 Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis. SNOMEDCT:67312003|MESH:D017092|NCIT:C84697|http://identifiers.org/omim/263700|DOID:13271|ORPHA:79277 http://purl.obolibrary.org/obo/MONDO_0009902 uroporphyrinogen 3 synthase deficiency|Gunther disease|congenital porphyria|Uros deficiency|CEP|porphyria, congenital erythropoietic|congenital erythropoietic porphyria|erythropoietic porphyria|uroporphyrinogen III synthase, deficiency of|Günther disease|Cep ordo_disease MONDO:0009901 Bartsocas-Papas syndrome biolink:Disease mondo GARD:0004436|OMIM:263650|UMLS:C1849718|ICD10:Q87.2|Orphanet:1234|MESH:C564874|SCTID:722376008 Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. UMLS:C1849718|http://identifiers.org/omim/263650|ORPHA:1234|SNOMEDCT:722376008|MESH:C564874 http://purl.obolibrary.org/obo/MONDO_0009901 lethal popliteal pterygium syndrome|multiple pterygium syndrome, Aslan type|pterygium popliteal lethal type|autosomal recessive popliteal pterygium syndrome|Bartsocas Papas syndrome|BPS|popliteal pterygium syndrome lethal type|popliteal pterygium syndrome, Bartsocas-Papas type|pterygium, popliteal, lethal type|Bartsocas-Papas syndrome|popliteal pterygium syndrome, lethal type ordo_malformation_syndrome HGNC:2328 CPT1A biolink:OntologyClass mondo http://identifiers.org/hgnc/2328 MONDO:0009900 polysyndactyly-cardiac malformation syndrome biolink:Disease mondo Orphanet:2934|ICD10:Q87.8|GARD:0004428|UMLS:C1849719|MESH:C564875|OMIM:263630|SCTID:724066002 Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). UMLS:C1849719|SNOMEDCT:724066002|http://identifiers.org/omim/263630|ORPHA:2934|MESH:C564875 http://purl.obolibrary.org/obo/MONDO_0009900 polysyndactyly cardiac malformation|polysyndactyly with CARDIAC malformation|Bonneau syndrome ordo_malformation_syndrome UBERON:0004121 ectoderm-derived structure biolink:AnatomicalEntity mondo An anatomical structure that develops (entirely or partially) from the ectoderm. http://purl.obolibrary.org/obo/UBERON_0004121 ectodermal deriviative UBERON:0004122 genitourinary system biolink:AnatomicalEntity mondo Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. http://purl.obolibrary.org/obo/UBERON_0004122 urogenital tract|UG tract|genitourinary tract|Urogenitalsystem|genito-urinary system|GU tract|urogenital system HP:0002475 Myelomeningocele biolink:PhenotypicFeature mondo SNOMEDCT_US:203994003|Fyler:4309|SNOMEDCT_US:414667000|UMLS:C0025312|MSH:D008591 Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. http://purl.obolibrary.org/obo/HP_0002475 Spina bifida cystica|Meningomyelocele UBERON:0004120 mesoderm-derived structure biolink:AnatomicalEntity mondo An anatomical structure that develops (entirely or partially) from the mesoderm. http://purl.obolibrary.org/obo/UBERON_0004120 mesodermal derivative HGNC:20800 SLC35D1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20800 HGNC:2336 CR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2336 UBERON:0004128 optic vesicle biolink:AnatomicalEntity mondo The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. http://purl.obolibrary.org/obo/UBERON_0004128 optic vesicles|evagination|eye vesicle|ocular vesicle HGNC:2334 CR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2334 UBERON:0004126 trabecular layer of ventricle biolink:AnatomicalEntity mondo A myocardium trabecular layer that is part of a cardiac ventricle. http://purl.obolibrary.org/obo/UBERON_0004126 ventricular trabecular myocardium|trabecular cardiac ventricle muscle|myocardium of region of ventricle UBERON:0004123 myocardial layer biolink:AnatomicalEntity mondo Any of the layers of the myocardium. Example: compact layer, trabecular layer. http://purl.obolibrary.org/obo/UBERON_0004123 layer of myocardium|myocardium layer HGNC:2330 CPT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2330 UBERON:0004124 myocardium trabecular layer biolink:AnatomicalEntity mondo The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. In zebrafish, unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae have more strut-like character, and are more uniform without apparent regional differences[ZFA]. http://purl.obolibrary.org/obo/UBERON_0004124 heart muscle trabeculae|trabecular layer|myocardial trabecular layer|trabeculae|heart muscle trabecula|myocardial trabeculae carneae|trabecula of heart muscle MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form biolink:Disease mondo GARD:0009633|UMLS:C1849694|MESH:C535828|OMIM:264420 UMLS:C1849694|http://identifiers.org/omim/264420|MESH:C535828 http://purl.obolibrary.org/obo/MONDO_0009918 Pfd, Lavia type|pseudoinflammatory fundus dystrophy|Pfd, Finnish type|PFD Lavia type|fundus dystrophy, pseudoinflammatory recessive form|fundus dystrophy, pseudoinflammatory, recessive form MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 biolink:Disease mondo ICD10:N25.8|GARD:0004552|DOID:0060854|Orphanet:171876|OMIM:264350 Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. DOID:0060854|http://identifiers.org/omim/264350|ORPHA:171876 http://purl.obolibrary.org/obo/MONDO_0009917 pseudohypoaldosteronism, type I, autosomal recessive; PHA1B|pseudohypoaldosteronism type 1 autosomal recessive|PHA1B|pseudohypoaldosteronism, type I, autosomal recessive|autosomal recessive PHA 1|pseudohypoaldosteronism type 1, recessive|PHA I, autosomal recessive|generalized pseudohypoaldosteronism type 1|generalized PHA1|autosomal recessive pseudohypoaldosteronism type 1 gard_rare|ordo_clinical_subtype MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency biolink:Disease mondo NCIT:C120203|OMIM:264300|MESH:C564868|ICD10:E29.1|MESH:C537805|Orphanet:752|SCTID:50658006|GARD:0005659 Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. UMLS:C0268296|http://identifiers.org/omim/264300|NCIT:C120203|MESH:C537805|ORPHA:752|SNOMEDCT:50658006|MESH:C564868 http://purl.obolibrary.org/obo/MONDO_0009916 Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|17-KSR deficiency|17-ketoreductase deficiency|neutral 17 beta hydroxysteroid oxidoreductase deficiency|17-beta hydroxysteroid dehydrogenase 3 deficiency|pseudohermaphroditism, Male, with gynecomastia|17-beta-hydroxysteroid dehydrogenase 3 deficiency|17 beta hydroxysteroid dehydrogenase III deficiency|17-ketosteroid reductase deficiency of testis|17-Beta hydroxysteroid dehydrogenase 3 deficiency|neutral 17-Beta-hydroxysteroid oxidoreductase deficiency|polycystic ovary syndrome due to 17-ketosteroid reductase deficiency|17 alpha KSR deficiency|Male pseudoherma-phroditism with gynecomastia|polycystic ovarian disease due to 17-ketosteroid reductase deficiency|17 Beta HSD3 deficiency|17-BETA hydroxysteroid dehydrogenase III deficiency|17 beta HSD3 deficiency|17-ketosteroidreductase deficiency|17 alpha ketosteroid reductase deficiency of testis ordo_disease MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome biolink:Disease mondo MESH:C564869|ICD10:Q56.2|UMLS:C1849696|OMIM:264270|Orphanet:2975 UMLS:C1849696|http://identifiers.org/omim/264270|ORPHA:2975|MESH:C564869 http://purl.obolibrary.org/obo/MONDO_0009915 pseudohermaphroditism, female, with skeletal anomalies|female pseudohermaphroditism-skeletal anomalies syndrome ordo_malformation_syndrome MONDO:0009914 pseudodiastrophic dysplasia biolink:Disease mondo MESH:C535826|Orphanet:85174|ICD10:Q78.8|GARD:0009463|ICD9:756.9|UMLS:C0432206|SCTID:254058002|OMIM:264180 Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy. http://identifiers.org/omim/264180|ORPHA:85174|SNOMEDCT:254058002|UMLS:C0432206|MESH:C535826 http://purl.obolibrary.org/obo/MONDO_0009914 Pseudodiastrophic dwarfism|pseudodiastrophic dysplasia ordo_malformation_syndrome|gard_rare MONDO:0009913 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness biolink:Disease mondo SCTID:236529001|MESH:C562894|UMLS:C0403551|OMIM:264140 SNOMEDCT:236529001|http://identifiers.org/omim/264140|MESH:C562894|UMLS:C0403551 http://purl.obolibrary.org/obo/MONDO_0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness|prune belly syndrome with pulmonic stenosis, mental retardation, and deafness MONDO:0009912 prolactin deficiency with obesity and enlarged testes biolink:Disease mondo OMIM:264120|UMLS:C1849698|MESH:C564870 http://identifiers.org/omim/264120|MESH:C564870|UMLS:C1849698 http://purl.obolibrary.org/obo/MONDO_0009912 prolactin deficiency with obesity and enlarged testes|PRL deficiency with obesity and enlarged testes CHEBI:57934 psychosine(1+) biolink:ChemicalSubstance mondo The ammonium ion resulting from the protonation of the amino group of psychosine. http://purl.obolibrary.org/obo/CHEBI_57934 (2S,3R,4E)-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-en-2-aminium|(2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-aminium|beta-D-galactosyl-(1<->1)-sphing-4-enine MONDO:0009911 prolactin deficiency, isolated biolink:Disease mondo SCTID:67873006|ICD9:253.4|OMIM:264110|MESH:C562708 MESH:C562708|http://identifiers.org/omim/264110|SNOMEDCT:67873006 http://purl.obolibrary.org/obo/MONDO_0009911 prolactin deficiency, isolated MONDO:0009910 Wiedemann-Rautenstrauch syndrome biolink:Disease mondo GARD:0000330|NCIT:C121565|ICD10:E34.8|MESH:C536423|ICD9:259.8|UMLS:C0406586|OMIM:264090|Orphanet:3455|SCTID:238874008 Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism. ORPHA:3455|UMLS:C0406586|SNOMEDCT:238874008|NCIT:C121565|MESH:C536423|http://identifiers.org/omim/264090 http://purl.obolibrary.org/obo/MONDO_0009910 neonatal progeroid syndrome|Wiedemann-Rautenstrauch syndrome|progeroid syndrome, neonatal|progeroid syndrome neonatal|Wiedemann Rautenstrauch syndrome ordo_malformation_syndrome HGNC:2340 CRADD biolink:OntologyClass mondo http://identifiers.org/hgnc/2340 UBERON:0004111 anatomical conduit biolink:AnatomicalEntity mondo Any tube, opening or passage that connects two distinct anatomical spaces. http://purl.obolibrary.org/obo/UBERON_0004111 foramen|ostia|opening|foramina|ostium HP:0002486 Myotonia biolink:PhenotypicFeature mondo SNOMEDCT_US:3434004|UMLS:C0027125|MSH:D009222 An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. http://purl.obolibrary.org/obo/HP_0002486 Delayed relaxation of muscle fibers after contraction NCBITaxon:66360 Cochliomyia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_66360 UBERON:0004118 vasculature of iris biolink:AnatomicalEntity mondo A vasculature that is part of a iris [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004118 iris blood vessels|iris vasculature|iris vascular network|vascular network of iris ECTO:0002002 steroid exposure biolink:OntologyClass mondo An exposure to steroid. http://purl.obolibrary.org/obo/ECTO_0002002 exposure to steroid HGNC:2348 CREBBP biolink:OntologyClass mondo http://identifiers.org/hgnc/2348 UBERON:0004119 endoderm-derived structure biolink:AnatomicalEntity mondo An anatomical structure that develops (entirely or partially) from the endoderm. http://purl.obolibrary.org/obo/UBERON_0004119 UBERON:0004116 nerve of tympanic cavity biolink:AnatomicalEntity mondo A nerve that is part of a tympanic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004116 middle ear anatomical cavity nerve|nerve of middle ear cavity|middle ear cavity nerve|cavity of middle ear nerve|nerve of anatomical cavity of middle ear|tympanic cavity nerves|nerve of middle ear anatomical cavity|tympanic cavity nerve|anatomical cavity of middle ear nerve|nerve of cavity of middle ear CHEBI:18367 phosphate(3-) biolink:ChemicalSubstance mondo A phosphate ion that is the conjugate base of hydrogenphosphate. http://purl.obolibrary.org/obo/CHEBI_18367 Orthophosphate|PHOSPHATE ION|tetraoxophosphate(3-)|tetraoxophosphate(V)|phosphate|tetraoxidophosphate(3-)|Phosphate|PO4(3-)|[PO4](3-) UBERON:0004117 pharyngeal pouch biolink:AnatomicalEntity mondo An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouches|visceral pouch|visceral pouches|branchial pouch HGNC:2345 CREB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2345 UBERON:0004114 tympanic cavity biolink:AnatomicalEntity mondo small cavity surrounding the bones of the middle ear. http://purl.obolibrary.org/obo/UBERON_0004114 cavity of middle ear|cavitas tympani|middle-ear cavity|tympanum|anatomical cavity of middle ear|cavitas tympanica|middle ear cavity UBERON:0004115 blood vessel of tympanic cavity biolink:AnatomicalEntity mondo A blood vessel that is part of a tympanic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004115 blood vessel of middle ear cavity|anatomical cavity of middle ear blood vessel|tympanic cavity blood vessel|blood vessel of middle ear anatomical cavity|blood vessel of anatomical cavity of middle ear|cavity of middle ear blood vessel|middle ear cavity blood vessel|middle ear blood vessel|blood vessel of cavity of middle ear|middle ear anatomical cavity blood vessel HGNC:2343 CRB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2343 MONDO:0009909 progesterone resistance biolink:Disease mondo OMIM:264080|UMLS:C1849699|MESH:C564871 MESH:C564871|UMLS:C1849699|http://identifiers.org/omim/264080 http://purl.obolibrary.org/obo/MONDO_0009909 progesterone resistance|pseudocorpus luteum insufficiency UBERON:0004113 muscle of auditory ossicle biolink:AnatomicalEntity mondo A muscle of the tympanic cavity that attaches to an auditory ossicle. http://purl.obolibrary.org/obo/UBERON_0004113 tympanic cavity muscle|muscle of middle ear|ossicular muscle|muscle of tympanic cavity|muscle of auditory ossicles|auditory ossicles muscle MONDO:0009908 dehydratase deficiency biolink:Disease mondo ICD9:277.6|GARD:0002843|MESH:C538382|Orphanet:1578|OMIM:264070|ICD10:E70.1|SCTID:124646004 Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner. http://identifiers.org/omim/264070|MESH:C538382|SNOMEDCT:124646004|ORPHA:1578 http://purl.obolibrary.org/obo/MONDO_0009908 pterin-4 alpha-carbinolamine dehydratase deficiency|CADH deficiency|hyperphenylalaninemia due to dehydratase deficiency|PCBD deficiency|hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia, BH4-deficient, D; HPABH4D|hyperphenylalaninemia, Bh4-deficient, type D|hyperphenylalaninemia, BH4-deficient, D|tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia with primapterinuria|HPABH4D|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency ordo_clinical_subtype MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 biolink:Disease mondo MESH:C566138|GARD:0001248|OMIM:118210|ICD10:G60.0|Orphanet:99946|SCTID:717016001|NCIT:C134952|DOID:0110154 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. MESH:C566138|ORPHA:99946|NCIT:C134952|SNOMEDCT:717016001|DOID:0110154|http://identifiers.org/omim/118210 http://purl.obolibrary.org/obo/MONDO_0007308 Charcot-Marie-Tooth neuropathy type 2A1|Charcot-Marie-Tooth disease, axonal, type 2A1|hereditary motor and sensory neuropathy IIA1|CMT2A1|Charcot-Marie-Tooth disease type 2A|Charcot-Marie-Tooth disease, neuronal, type 2A|CMT2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1|hereditary motor and sensory neuropathy 2 A|HMSN IIa1|Charcot-Marie-Tooth disease, axonal, type 2A|CMT 2A|Charcot-Marie-Tooth neuropathy, type 2A1|Charcot Marie Tooth disease type 2A|Charcot-Marie-Tooth disease neuronal type 2A1|autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1|KIF1B Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2A1|HMSN2A1|hereditary motor and sensory neuropathy IIa1|HMSN IIA|HMSN2A1|Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B|HMSN IIA1|Charcot-Marie-Tooth disease, axonal, type 2A1; CMT2A1|Charcot-Marie-Tooth disease, neuronal, type 2A1 ordo_disease|prototype_pattern|gard_rare MONDO:0007309 Charcot-Marie-Tooth disease type 1A biolink:Disease mondo ICD10:G60.0|GARD:0001245|OMIM:118220|DOID:0110148|NCIT:C75468|Orphanet:101081|UMLS:C0270911 Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications. UMLS:C0270911|NCIT:C75468|http://identifiers.org/omim/118220|DOID:0110148|ORPHA:101081 http://purl.obolibrary.org/obo/MONDO_0007309 CMT1A|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A|Charcot-Marie-Tooth neuropathy, type 1A|CMT 1A|Charcot Marie Tooth disease type 1A|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A|Charcot-Marie-Tooth disease, demyelinating, type 1A; CMT1A|HMSN1A|HMSN 1A|Charcot-Marie-Tooth disease, demyelinating, type 1A|hereditary motor and sensory neuropathy 1A|microduplication 17p12|Charcot-Marie-Tooth neuropathy type 1A|HMSN1A gard_rare|ordo_disease MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant biolink:Disease mondo UMLS:C1861689|MESH:C536887|OMIM:118100 Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene. UMLS:C1861689|http://identifiers.org/omim/118100|MESH:C536887 http://purl.obolibrary.org/obo/MONDO_0007306 cervical vertebral fusion, autosomal dominant|KFS1|isolated Klippel-Feil syndrome caused by mutation in GDF6|GDF6 isolated Klippel-Feil syndrome|Klippel-Feil syndrome 1, autosomal dominant|Kfs|Klippel-FEIL syndrome 1, autosomal dominant; KFS1 MONDO:0009969 renal-genital-middle ear anomalies biolink:Disease mondo GARD:0004664|Orphanet:1092|MESH:C564849|OMIM:267400|ICD10:Q87.8|UMLS:C1849432 http://identifiers.org/omim/267400|UMLS:C1849432|MESH:C564849|ORPHA:1092 http://purl.obolibrary.org/obo/MONDO_0009969 renal genital middle ear anomalies|renal, genital, and middle EAR anomalies ordo_malformation_syndrome|gard_rare MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss biolink:Disease mondo OMIM:267300|ICD9:588.89|ICD9:389.8|GARD:0004666|UMLS:C4302514|Orphanet:93611|MESH:C562897|SCTID:722468005|UMLS:C0403554|SCTID:236532003 UMLS:C0403554|UMLS:C4302514|http://identifiers.org/omim/267300|MESH:C562897|ORPHA:93611|SNOMEDCT:236532003|SNOMEDCT:722468005 http://purl.obolibrary.org/obo/MONDO_0009968 AR dRTA wth deafness|autosomal recessive distal renal tubular acidosis with hearing loss|renal tubular acidosis with deafness|AR dRTA with hearing loss|renal tubular acidosis type 1b|autosomal recessive distal renal tubular acidosis with deafness|RTA with progressive nerve deafness|renal tubular acidosis, distal, with progressive nerve deafness|renal tubular acidosis progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness|distal renal tubular acidosis co-occurrent with sensorineural deafness MONDO:0007307 Charcot-Marie-Tooth disease type 1B biolink:Disease mondo Orphanet:101082|NCIT:C118782|OMIM:118200|UMLS:C0270912|ICD10:G60.0|GARD:0001246|DOID:0110152 A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. NCIT:C118782|UMLS:C0270912|DOID:0110152|http://identifiers.org/omim/118200|ORPHA:101082 http://purl.obolibrary.org/obo/MONDO_0007307 hereditary motor and sensory neuropathy 1|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B|Charcot-Marie-Tooth neuropathy, type 1B|CMT 1B|Charcot Marie Tooth disease type 1B|Charcot-Marie-Tooth neuropathy type 1B|HMSN IB|Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy|hereditary motor and sensory neuropathy IB|Charcot-Marie-Tooth disease, demyelinating, type 1B|Charcot-Marie-Tooth disease, demyelinating, type 1B; CMT1B|MPZ Charcot-Marie-Tooth disease type 1|HMSN 1B|HMSN1B|HMSN1|hereditary motor and sensory neuropathy 1B|CMT1B|Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy|peroneal muscular atrophy|HMSN1B|Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B ordo_disease MONDO:0022940 obsolete deafness hyperuricemia neurologic ataxia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022940 MONDO:0009967 renal tubular acidosis 3 biolink:Disease mondo OMIM:267200|GARD:0004670|MESH:C537759 MESH:C537759|http://identifiers.org/omim/267200 http://purl.obolibrary.org/obo/MONDO_0009967 RTA, dislocation type|renal tubular acidosis type 3|RTA, bicarbonate-wasting type|renal tubular acidosis III|bicarbonate-wasting RTA|renal tubular acidosis, distal, type 3 MONDO:0022941 deafness hypospadias metacarpal and metatarsal syndrome biolink:Disease mondo GARD:0001692 http://purl.obolibrary.org/obo/MONDO_0022941 gard_rare MONDO:0007304 cervical vertebral Bridge biolink:Disease mondo OMIM:118000 http://identifiers.org/omim/118000 http://purl.obolibrary.org/obo/MONDO_0007304 cervical vertebral Bridge MONDO:0009966 NPHP3-related Meckel-like syndrome biolink:Disease mondo ICD10:Q61.9|MESH:C537756|DOID:0070121|GARD:0004665|UMLS:C2673885|Orphanet:3032|OMIM:267010|PMID:18371931 MESH:C537756|http://identifiers.org/omim/267010|UMLS:C2673885|DOID:0070121|ORPHA:3032 http://purl.obolibrary.org/obo/MONDO_0009966 Meckel syndrome, type 7; MKS7|NPHP3-related Meckel-like syndrome|Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst|Meckel syndrome 7|Meckel syndrome type 7|Meckel-Gruber syndrome, type 7|Meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome|MKS7|Goldston syndrome|Meckel syndrome, type 7 ordo_malformation_syndrome|gard_rare MONDO:0007305 cervical vertebral dysplasia (disease) biolink:Disease mondo OMIM:118005|MESH:C566140|HP:0008469|UMLS:C1861693 MESH:C566140|UMLS:C1861693|http://identifiers.org/omim/118005 http://purl.obolibrary.org/obo/MONDO_0007305 cervical vertebral dysplasia MONDO:0022942 deafness mesenteric diverticula of small bowel neuropathy biolink:Disease mondo GARD:0001693 http://purl.obolibrary.org/obo/MONDO_0022942 gard_rare MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis biolink:Disease mondo OMIM:117850|UMLS:C1861695|MESH:C566142 UMLS:C1861695|http://identifiers.org/omim/117850|MESH:C566142 http://purl.obolibrary.org/obo/MONDO_0007302 cervical hypertrichosis with underlying kyphoscoliosis|hypertrichosis, posterior cervical, with underlying kyphoscoliosis MONDO:0009965 Perlman syndrome biolink:Disease mondo NCIT:C103144|ICD10:Q87.3|MESH:C536399|UMLS:C0796113|DOID:0060476|SCTID:722231005|OMIM:267000|GARD:0003936|Orphanet:2849 Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. MESH:C536399|http://identifiers.org/omim/267000|DOID:0060476|UMLS:C0796113|SNOMEDCT:722231005|NCIT:C103144|ORPHA:2849 http://purl.obolibrary.org/obo/MONDO_0009965 nephroblastomatosis fetal ascites macrosomia and Wilms tumor|nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor|PRLMNS|nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor|renal hamartomas, nephroblastomatosis, and fetal gigantism|Perlman syndrome|Perlman syndrome; PRLMNS|nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor|renal hamartomas, nephroblastomatosis and fetal gigantism|nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome gard_rare|ordo_malformation_syndrome MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form biolink:Disease mondo OMIM:600903|UMLS:C1833170|MESH:C563431 MESH:C563431|UMLS:C1833170|http://identifiers.org/omim/600903 http://purl.obolibrary.org/obo/MONDO_0010954 Wiskott-Aldrich syndrome, autosomal dominant form MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly biolink:Disease mondo GARD:0008600|Orphanet:140969|OMIM:266920|SCTID:254092004|ICD9:759.89|ICD10:Q87.5|DOID:0110097 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. DOID:0110097|MESH:C535463|UMLS:C1849437|http://identifiers.org/omim/266920|SNOMEDCT:254092004|ORPHA:140969 http://purl.obolibrary.org/obo/MONDO_0009964 renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia|renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|SRTD9|Conorenal syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|Saldino-Mainzer syndrome|short-rib thoracic dysplasia 9 with or without polydactyly|short-rib thoracic dysplasia 9 with or without polydactyly; SRTD9|Mainzer-Saldino syndrome|Mainzer Saldino syndrome ordo_disease MONDO:0007303 cervical rib disease biolink:Disease mondo ICD9:756.2|HP:0000891|MedDRA:10008301|MESH:D002573|COHD:79144|OMIM:117900|SCTID:72535009|EFO:1000861 A rib that is attached to a cervical vertebra or enlarged transverse processes. SNOMEDCT:72535009|http://identifiers.org/omim/117900|MESH:D002573 http://purl.obolibrary.org/obo/MONDO_0007303 cervical rib|cervical rib syndrome MONDO:0010953 Fanconi anemia complementation group E biolink:Disease mondo DOID:0111084|NCIT:C125709|UMLS:C3160739|OMIM:600901 Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. NCIT:C125709|UMLS:C3160739|http://identifiers.org/omim/600901|DOID:0111084 http://purl.obolibrary.org/obo/MONDO_0010953 FANCE Fanconi anemia|Fanconi anemia, complementation group E|Fanconi anemia complementation group type E|Fanconi anemia, complementation group E; FANCE|FANCE|face|Fanconi Anemia, complementation group type E|Fanconi anemia caused by mutation in FANCE UBERON:0004180 mammary gland fat biolink:AnatomicalEntity mondo The mammary fat is an adipose structure in the gland that is invaded by the mammary ducts http://purl.obolibrary.org/obo/UBERON_0004180 lobe of breast fatty tissue|fat tissue of lactiferous gland|mammary gland adipose tissue|adipose tissue of lactiferous gland|lactiferous gland fatty tissue|fatty tissue of lobe of mammary gland|lobe of mammary gland adipose tissue|mammary gland fat tissue|fatty tissue of mammary gland|lobe of mammary gland fat tissue|lobe of breast adipose tissue|fat tissue of lobe of mammary gland|fat tissue of mammary gland|fat tissue of lobe of breast|mammary gland fatty tissue|lobe of mammary gland fatty tissue|lobe of breast fat tissue|adipose tissue of mammary gland|fatty tissue of lactiferous gland|lactiferous gland adipose tissue|lactiferous gland fat tissue|fatty tissue of lobe of breast MONDO:0007300 cerebral sarcoma biolink:Disease mondo UMLS:C1861714|GARD:0010073|MESH:C537946|OMIM:117600 A sarcoma involving a telencephalon. MESH:C537946|http://identifiers.org/omim/117600|UMLS:C1861714 http://purl.obolibrary.org/obo/MONDO_0007300 telencephalon sarcoma|cerebral sarcoma|sarcoma of telencephalon gard_rare MONDO:0009963 Ulbright-Hodes syndrome biolink:Disease mondo MESH:C537754|SCTID:719840003|OMIM:266910|ICD10:Q87.8|UMLS:C1849438|Orphanet:3404|GARD:0005394 Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. UMLS:C1849438|http://identifiers.org/omim/266910|ORPHA:3404|SNOMEDCT:719840003|MESH:C537754 http://purl.obolibrary.org/obo/MONDO_0009963 renal dysplasia-mesomelia-radiohumeral fusion syndrome|renal dysplasia-limb defects syndrome|renal dysplasia limb defects syndrome|Ulbright Hodes syndrome|RL syndrome|renal dysplasia, mesomelia, and radiohumeral fusion ordo_malformation_syndrome MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis biolink:Disease mondo OMIM:600907|UMLS:C1833163|GARD:0004801|MESH:C563430 MESH:C563430|UMLS:C1833163|http://identifiers.org/omim/600907 http://purl.obolibrary.org/obo/MONDO_0010956 enamel hypoplasia, capsular cataracts, and ductal stenosis|enamel hypoplasia, cataracts, and aqueductal stenosis|Seow Najjar syndrome MONDO:0009962 Senior-Loken syndrome 1 biolink:Disease mondo ICD9:759.89|OMIM:266900|SCTID:236531005 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. http://identifiers.org/omim/266900|SNOMEDCT:236531005 http://purl.obolibrary.org/obo/MONDO_0009962 SLSN1|Senior-Loken syndrome caused by mutation in NPHP1|juvenile nephronophthisis with Leber amaurosis|Senior-Loken syndrome 1|Senior-Loken syndrome|SENIOR-Loken syndrome 1; SLSN1|renal dysplasia and retinal aplasia|renal-retinal syndrome|Senior-Loken syndrome type 1|Loken-Senior syndrome|NPHP1 Senior-Loken syndrome MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly biolink:Disease mondo OMIM:600906|UMLS:C1833169|GARD:0002052|MESH:C538018 UMLS:C1833169|MESH:C538018|http://identifiers.org/omim/600906 http://purl.obolibrary.org/obo/MONDO_0010955 ectodermal dysplasia intellectual disability syndactyly|ectodermal dysplasia mental retardation syndactyly|ectodermal dysplasia with mental retardation and syndactyly|ectodermal dysplasia with intellectual disability and syndactyly clingen MONDO:0007301 cerebrocostomandibular syndrome biolink:Disease mondo UMLS:C0265342|ICD9:759.89|MESH:C562538|SCTID:51780007|Orphanet:1393|GARD:0006026|ICD10:Q87.8|OMIM:117650 Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. UMLS:C0265342|http://identifiers.org/omim/117650|MESH:C562538|SNOMEDCT:51780007|ORPHA:1393 http://purl.obolibrary.org/obo/MONDO_0007301 rib Gap defects with micrognathia|CCMS|cerebrocostomandibular syndrome|cerebro-costo-mandibular syndrome|CEREBROCOSTOMANDIBULAR syndrome; CCMS|CCM syndrome ordo_malformation_syndrome MONDO:0010958 cardiac arrhythmia, ankyrin-b-related biolink:Disease mondo OMIM:600919|SCTID:764457005|UMLS:C1970119|GARD:0010432 UMLS:C1970119|SNOMEDCT:764457005|http://identifiers.org/omim/600919 http://purl.obolibrary.org/obo/MONDO_0010958 ankyrin-B syndrome|long QT syndrome 4|cardiac arrhythmia, ankyrin-b-related|LQT4 MONDO:0009961 renal and mullerian duct hypoplasia biolink:Disease mondo UMLS:C1849439|OMIM:266810|MESH:C564853 UMLS:C1849439|MESH:C564853|http://identifiers.org/omim/266810 http://purl.obolibrary.org/obo/MONDO_0009961 renal and mullerian duct hypoplasia CHEBI:33958 halide salt biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33958 halide salts|halides MONDO:0009960 inflammatory bowel disease 1 biolink:Disease mondo GARD:0009857|SCTID:34000006|DOID:0110892|ICD9:555.9|OMIM:266600 Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene. DOID:0110892|http://identifiers.org/omim/266600|SNOMEDCT:34000006 http://purl.obolibrary.org/obo/MONDO_0009960 Crohn disease-associated Growth failure, susceptibility to|inflammatory bowel disease caused by mutation in NOD2|regional enteritis|IBD1|NOD2 inflammatory bowel disease|pediatric ulcerative colitis|inflammatory bowel disease (Crohn disease) 1|inflammatory bowel disease type 1|inflammatory bowel disease 1|inflammatory bowel disease 1; IBD1|inflammatory bowel disease (Crohn disease) 1; IBD1|ulcerative colitis, pediatric|Crohn disease|ulcerative colitis MONDO:0010957 agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations biolink:Disease mondo UMLS:C1833162|OMIM:600908 UMLS:C1833162|http://identifiers.org/omim/600908 http://purl.obolibrary.org/obo/MONDO_0010957 agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations|Kennerknecht syndrome|KENNERKNECHT syndrome|agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations MONDO:0010959 van den Ende-Gupta syndrome biolink:Disease mondo SCTID:719845008|MESH:C535909|ICD10:Q87.0|OMIM:600920|UMLS:C1833136|GARD:0003382|Orphanet:2460 Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. MESH:C535909|SNOMEDCT:719845008|UMLS:C1833136|ORPHA:2460|http://identifiers.org/omim/600920 http://purl.obolibrary.org/obo/MONDO_0010959 VAN DEN Ende-Gupta syndrome; VDEGS|Van den Ende Gupta syndrome|van den Ende-Gupta syndrome|VDEGS|blepharophimosis, arachnodactyly, and congenital contractures|Marden-Walker-like syndrome|Marden Walker like syndrome|Marden-Walker-like syndrome without psychomotor retardation|Marden Walker like syndrome without psychomotor retardation ordo_malformation_syndrome UBERON:0004188 glomerular epithelium biolink:AnatomicalEntity mondo The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/UBERON_0004188 kidney glomerular epithelium|glomerular epithelial cell|epithelium of kidney glomerulus|epithelium of glomerulus|epithelium of renal glomerulus UBERON:0004185 endodermal part of digestive tract biolink:AnatomicalEntity mondo A portions of the gut that is derived from endoderm. http://purl.obolibrary.org/obo/UBERON_0004185 gut endoderm|endodermal gut MONDO:0010961 obesity due to prohormone convertase I deficiency biolink:Disease mondo MESH:C563423|Orphanet:71528|UMLS:C4302878|SCTID:722053001|UMLS:C1833053|ICD10:E66.8|OMIM:600955 Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. SNOMEDCT:722053001|UMLS:C1833053|http://identifiers.org/omim/600955|ORPHA:71528|MESH:C563423|UMLS:C4302878 http://purl.obolibrary.org/obo/MONDO_0010961 PCI deficiency|obesity and endocrinopathy due to impaired processing of Prohormones|proprotein convertase 1/3 deficiency ordo_disease UBERON:0004184 prostate gland stroma biolink:AnatomicalEntity mondo The prostate gland stroma is made up of the mesenchymal or fibroblast cells of the prostate gland http://purl.obolibrary.org/obo/UBERON_0004184 prostatic stroma|stroma of glandular part of prostate|stroma of prostate gland|stroma of prostate|prostate stroma MONDO:0010960 protocadherin 3 biolink:Disease mondo OMIM:600931 http://identifiers.org/omim/600931 http://purl.obolibrary.org/obo/MONDO_0010960 Pcdh3|protocadherin type 3|protocadherin 3 MONDO:0010963 autosomal dominant nonsyndromic deafness 6 biolink:Disease mondo ICD10:H90.3|DOID:0110584|MESH:C563421|OMIM:600965|UMLS:C1833021 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene. UMLS:C1833021|http://identifiers.org/omim/600965|DOID:0110584|MESH:C563421 http://purl.obolibrary.org/obo/MONDO_0010963 deafness, autosomal dominant 6|deafness, autosomal dominant type 6|autosomal dominant nonsyndromic deafness caused by mutation in WFS1|autosomal dominant deafness 6|deafness, autosomal dominant 6; DFNA6|DFNA6|deafness, autosomal dominant 38|deafness, autosomal dominant 14|autosomal dominant deafness 38|DFNA38|autosomal dominant nonsyndromic deafness type 6|autosomal dominant deafness 14|DFNA14|WFS1 autosomal dominant nonsyndromic deafness MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma biolink:Disease mondo Orphanet:530838|GARD:0005186|OMIM:600962|Orphanet:496 http://identifiers.org/omim/600962|ORPHA:496|ORPHA:530838 http://purl.obolibrary.org/obo/MONDO_0010962 Thost-Unna palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic|nonepidermolytic palmoplantar keratoderma|diffuse NEPPK|diffuse nonepidermolytic palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic; NEPPK|keratoderma, nonepidermolytic palmoplantar|PPK diffusa circumscripta|krt1-related diffuse nonepidermolytic keratoderma|PPKNE|Thost-Unna disease|NEPPK|tylosis|Unna-Thost palmoplantar keratoderma ordo_disease UBERON:0004182 mammary gland cord biolink:AnatomicalEntity mondo The solid cord of epithelial cells that emerges from the mammary bud and grows down from the primary mammary mesenchyme and into a second stromal compartment, the fat pad precursor, beneath the dermis. http://purl.obolibrary.org/obo/UBERON_0004182 mammary cord|mammary sprout|lactiferous gland cord MONDO:0022932 Davenport-Donlan syndrome biolink:Disease mondo Orphanet:3215|MESH:C535988|UMLS:C2931076|GARD:0001672 An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. MESH:C535988|UMLS:C2931076|ORPHA:3215 http://purl.obolibrary.org/obo/MONDO_0022932 Davenport Donlan syndrome|dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis gard_rare|n_of_one MONDO:0022934 Davis Lafer syndrome biolink:Disease mondo MESH:C535989|UMLS:C2931077|GARD:0001674 MESH:C535989|UMLS:C2931077 http://purl.obolibrary.org/obo/MONDO_0022934 mental retardation unusual facies Davis Lafer type|Lafer Davis syndrome|intellectual disability unusual facies Davis Lafer type gard_rare MONDO:0022936 de Hauwere Leroy adriaenssens syndrome biolink:Disease mondo MESH:C535991|UMLS:C2931078 MESH:C535991|UMLS:C2931078 http://purl.obolibrary.org/obo/MONDO_0022936 iris dysplasia, orbital hypertelorism, and psychomotor retardation MONDO:0022937 deafness conductive stapedial ear malformation facial palsy biolink:Disease mondo GARD:0001684 http://purl.obolibrary.org/obo/MONDO_0022937 gard_rare MONDO:0022938 deafness goiter stippled epiphyses biolink:Disease mondo GARD:0001689 http://purl.obolibrary.org/obo/MONDO_0022938 gard_rare UBERON:0004189 glomerular endothelium biolink:AnatomicalEntity mondo The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus http://purl.obolibrary.org/obo/UBERON_0004189 endothelium of renal glomerulus|renal glomerulus endothelium CHEBI:79314 flame retardant biolink:ChemicalSubstance mondo Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire. http://purl.obolibrary.org/obo/CHEBI_79314 flame retardants MONDO:0022939 obsolete deafness hyperuricemia neurologic ataxia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022939 HP:0100845 Anaphylactic shock biolink:PhenotypicFeature mondo MSH:D000707|SNOMEDCT_US:39579001|UMLS:C0002792 An acute hypersensitivity reaction due to exposure to a previously encountered antigen. http://purl.obolibrary.org/obo/HP_0100845 Anaphylaxis MONDO:0007319 familial calcium pyrophosphate deposition biolink:Disease mondo GARD:0001292|ICD10:M11.1|Orphanet:1416|MESH:C563162|UMLS:CN199517|OMIM:118600 Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA). ORPHA:1416|http://identifiers.org/omim/118600|UMLS:CN199517|MESH:C563162 http://purl.obolibrary.org/obo/MONDO_0007319 calcium gout|chondrocalcinosis 2; CCAL2|familial articular chondrocalcinosis|chondrocalcinosis familial articular|calcium gout, familial|CCAL2|hereditary CC|calcium pyrophosphate arthropathy|calcium pyrophosphate dihydrate deposition disease|calcium pyrophosphate arthropathy, familial|hereditary articular chondrocalcinosis|familial CPPD|Pseudogout, familial|familial CC|chondrocalcinosis 2|chondrocalcinosis type 2|familial calcium pyrophosphate dihydrate deposition disease|calcium pyrophosphate dihydrate crystal deposition disease|hereditary calcium pyrophosphate deposition|chondrocalcinosis, familial articular|CPPDD ordo_disease HP:0100851 Abnormal emotion/affect behavior biolink:PhenotypicFeature mondo UMLS:C4020949 An abnormality of emotional behaviour. http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behaviour HP:0100852 Abnormal fear/anxiety-related behavior biolink:PhenotypicFeature mondo UMLS:C4018849 An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. http://purl.obolibrary.org/obo/HP_0100852 Abnormal fear/anxiety-related behaviour MONDO:0007317 chlorpropamide-alcohol flushing biolink:Disease mondo UMLS:C1861630|OMIM:118430 UMLS:C1861630|http://identifiers.org/omim/118430 http://purl.obolibrary.org/obo/MONDO_0007317 CHLORPROPAMIDE-alcohol flushing; CPAF|chlorpropamide-alcohol flushing|CPAF MONDO:0007318 Alagille syndrome biolink:Disease mondo SCTID:31742004|GARD:0000804|Orphanet:52|ICD9:759.89|MESH:D016738|OMIMPS:118450|DOID:9245|UMLS:C0085280|MedDRA:10053870|ICD10:Q44.7|NCIT:C35139 Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. MEDDRA:10053870|DOID:9245|ORPHA:52|SNOMEDCT:31742004|MESH:D016738|NCIT:C35139|UMLS:C0085280 http://purl.obolibrary.org/obo/MONDO_0007318 syndromic bile duct paucity|Arteriohepatic dysplasia|Hepatofacioneurocardiovertebral syndrome|paucity of interlobular bile ducts|Watson Alagille syndrome|hepatic ductular hypoplasia|Cardiovertebral syndrome|Alagille-Watson syndrome|Alagille syndrome|Watson-Miller syndrome ordo_malformation_syndrome MONDO:0009979 reticular dystrophy of the retinal pigment epithelium biolink:Disease mondo Orphanet:99002|OMIM:267800|ICD10:H35.5|MESH:C564844 Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris. MESH:C564844|http://identifiers.org/omim/267800|ORPHA:99002 http://purl.obolibrary.org/obo/MONDO_0009979 retinal dystrophy, reticular pigmentary, of POSTERIOR POLE ordo_disease MONDO:0007315 cherubism biolink:Disease mondo Orphanet:184|MedDRA:10070535|ICD9:526.89|UMLS:C0008029|OMIM:118400|GARD:0006036|ICD10:K10.8|DOID:1856|SCTID:76098004|NCIT:C84630|MESH:D002636|ICD10:M27.8 Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. SNOMEDCT:76098004|http://identifiers.org/omim/118400|DOID:1856|NCIT:C84630|MESH:D002636|MEDDRA:10070535|UMLS:C0008029|ORPHA:184 http://purl.obolibrary.org/obo/MONDO_0007315 CRBM|familial fibrous dysplasia of the jaws|familial multilocular cystic disease of the jaws|Crbm|cherubism gard_rare|ordo_malformation_syndrome MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome biolink:Disease mondo ICD10:H35.5|UMLS:C2931831|Orphanet:1574|MESH:C538364|GARD:0000395|OMIM:267760|SCTID:723503006 Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. SNOMEDCT:723503006|http://identifiers.org/omim/267760|UMLS:C2931831|MESH:C538364|ORPHA:1574 http://purl.obolibrary.org/obo/MONDO_0009978 Mackay-Shek-Carr syndrome|retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma|MacKay Shek Carr syndrome|retinal degeneration, nanophthalmos, glaucoma ordo_malformation_syndrome MONDO:0022930 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia biolink:Disease mondo MESH:C538340|GARD:0000137|UMLS:C2931823 UMLS:C2931823|MESH:C538340 http://purl.obolibrary.org/obo/MONDO_0022930 Aughton sloan Milad syndrome gard_rare MONDO:0007316 Chiari malformation type I biolink:Disease mondo ICD10:G95.0|MedDRA:10056944|Orphanet:268882|SCTID:253185002|OMIM:118420 Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic. ORPHA:268882|http://identifiers.org/omim/118420|UMLS:C0750929|SNOMEDCT:253185002|MEDDRA:10056944 http://purl.obolibrary.org/obo/MONDO_0007316 Chiari malformation type 1 with syringomyelia|Cm1 with syringomyelia|Chiari malformation type I|Arnold-Chiari malformation type 1|Chiari malformation type 1|Cm1|Arnold-Chiari malformation type I ordo_morphological_anomaly MONDO:0009977 Knobloch syndrome biolink:Disease mondo ICD9:759.89|UMLS:C1849409|GARD:0000380|MESH:C537209|OMIM:267750|SCTID:703542000|ICD10:Q15.8|Orphanet:1571 Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele. http://identifiers.org/omim/267750|UMLS:C1849409|SNOMEDCT:703542000|MESH:C537209|ORPHA:1571 http://purl.obolibrary.org/obo/MONDO_0009977 KNO1|myopia retinal detachment encephalocele|retinal detachment-occipital encephalocele syndrome|Knobloch syndrome type 1|retinal detachment and occipital encephalocele|KNOBLOCH syndrome 1|KNOBLOCH syndrome 1; KNO1|Kno|Knobloch-Layer syndrome ordo_malformation_syndrome|gard_rare MONDO:0007313 cheilitis glandularis biolink:Disease mondo OMIM:118330|SCTID:26374003|UMLS:C0267034|Orphanet:1221|ICD10:K13.0|MESH:C535921|GARD:0000412 Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands. http://identifiers.org/omim/118330|MESH:C535921|UMLS:C0267034|SNOMEDCT:26374003|ORPHA:1221 http://purl.obolibrary.org/obo/MONDO_0007313 cheilitis glandularis gard_rare|ordo_disease MONDO:0009976 retinal degeneration and epilepsy biolink:Disease mondo MESH:C564847|UMLS:C1849416|OMIM:267740 MESH:C564847|UMLS:C1849416|http://identifiers.org/omim/267740 http://purl.obolibrary.org/obo/MONDO_0009976 retinal degeneration and epilepsy MONDO:0010943 schizophrenia 4 biolink:Disease mondo OMIM:600850|UMLS:C1833247|DOID:0070080 A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21. DOID:0070080|UMLS:C1833247|http://identifiers.org/omim/600850 http://purl.obolibrary.org/obo/MONDO_0010943 schizophrenia type 4|schizophrenia susceptibility locus, chromosome 22Q11-related|SCZD4|schizophrenia 4; SCZD4|schizophrenia 4 MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas biolink:Disease mondo UMLS:C2930928|GARD:0001265|MESH:C535552|OMIM:118350 MESH:C535552|http://identifiers.org/omim/118350|UMLS:C2930928 http://purl.obolibrary.org/obo/MONDO_0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas|abdominal chemodectomas with cutaneous angiolipomas MONDO:0009975 reticulum cell sarcoma biolink:Disease mondo SCTID:373168002|ICD9:200.7|EFO:0005287|OMIM:267730|Orphanet:86900|MedDRA:10038804|ICD10:C96.4|NCIT:C27824|ICD9:200.00|ICD9:200.0|DOID:8538 An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes. UMLS:C0024302|MESH:D054739|http://identifiers.org/omim/267730|NCIT:C27824|DOID:8538|UMLS:C1260326|MEDDRA:10038804|SNOMEDCT:373168002|ORPHA:86900 http://purl.obolibrary.org/obo/MONDO_0009975 reticulosarcoma|reticular cell sarcoma|large-cell Lymphomas|Reticulum cell sarcoma|reticulum cell sarcoma|sarcoma of reticular cell|interdigitating cell sarcoma|histiocytic lymphoma ordo_disease MONDO:0010942 obsolete eukaryotic translation elongation factor 1 alpha-1-like 14 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010942 eukaryotic translation elongation factor 1 ALPHA-1-like 14|eukaryotic translation elongation factor 1 ALPHA-1-like 14; EEF1A1L14|prostatic carcinoma tumor-inducing Gene 1|eukaryotic translation elongation Factor 1 Alpha-1-like type 14|EEF1A1L14 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 biolink:Disease mondo DOID:0110921|UMLS:C0272199|Orphanet:540|OMIM:267700|UMLS:CN205265|UMLS:CN034020|NCIT:C61276|MedDRA:10070904|ICD10:D76.1 Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth. NCIT:C61276|DOID:0110921|UMLS:CN205265|http://identifiers.org/omim/267700|UMLS:CN034020|UMLS:C0272199|MEDDRA:10070904|ORPHA:540 http://purl.obolibrary.org/obo/MONDO_0009974 Hplh1|familial hemophagocytic lymphohistiocytosis 1|Hlh1|familial hemophagocytic lymphohistiocytosis type 1|HLH1|HPLH1|hemophagocytic reticulosis, familial|familial hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis, familial|familial HLH|Erythrophagocytic lymphohistiocytosis, familial|hemophagocytic lymphohistiocytosis, familial, 1; FHL1|FHL1|familial hemophagocytic lymphohistiocytosis|reticulosis, familial histiocytic|hemophagocytic lymphohistiocytosis, familial, 1 ordo_disease|prototype_pattern MONDO:0007311 Charcot-Marie-Tooth disease type 1E biolink:Disease mondo OMIM:118300|DOID:0110153|UMLS:C2931686|ICD10:G60.0|MESH:C537986|Orphanet:90658|GARD:0009190 A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. DOID:0110153|http://identifiers.org/omim/118300|UMLS:C2931686|MESH:C538078|UMLS:C1861669|ORPHA:90658|MESH:C537986 http://purl.obolibrary.org/obo/MONDO_0007311 Charcot-Marie-Tooth disease demyelinating type 1E|Charcot-Marie-Tooth disease-deafness|CMT1E|Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant|Charcot-Marie-Tooth disease and deafness|CMT 1E|Charcot Marie Tooth disease type 1E|Charcot-Marie-Tooth disease, demyelinating, type 1E|autosomal dominant Charcot-Marie-Tooth neuropathy and deafness|Charcot-Marie-Tooth disease-deafness syndrome ordo_disease MONDO:0010945 retinitis pigmentosa 17 biolink:Disease mondo MESH:C563437|OMIM:600852|ICD10:H35.5|UMLS:C1833245|GARD:0010387|DOID:0110404 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene. DOID:0110404|MESH:C563437|UMLS:C1833245|http://identifiers.org/omim/600852 http://purl.obolibrary.org/obo/MONDO_0010945 CA4 retinitis pigmentosa|retinitis pigmentosa type 17|RP17|retinitis pigmentosa 17|retinitis pigmentosa caused by mutation in CA4|RP 17|retinitis pigmentosa 17; RP17 gard_rare MONDO:0010944 mitochondrial import-stimulating factor biolink:Disease mondo OMIM:600851 http://identifiers.org/omim/600851 http://purl.obolibrary.org/obo/MONDO_0010944 mitochondrial import-stimulating factor|MSF MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism biolink:Disease mondo UMLS:C1861668|OMIM:118301|MESH:C538079 http://identifiers.org/omim/118301|MESH:C538079|UMLS:C1861668 http://purl.obolibrary.org/obo/MONDO_0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism MONDO:0009973 reticular dysgenesis biolink:Disease mondo GARD:0008625|DOID:0060020|NCIT:C27070|OMIM:267500|MESH:C538361|UMLS:C0272167|ICD10:D81.0|Orphanet:33355|SCTID:111584000 Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. UMLS:C1282908|NCIT:C27070|http://identifiers.org/omim/267500|DOID:0060020|SNOMEDCT:111584000|UMLS:C0272167|ORPHA:33355|MESH:C538361 http://purl.obolibrary.org/obo/MONDO_0009973 DeVaal disease|RD|generalized hematopoietic hypoplasia|aleukocytosis|reticular Dysgenesia|hematopoietic hypoplasia, generalized|SCID with leukopenia|severe combined immunodeficiency with leukopenia|congenital aleukocytosis|De Vaal disease|AK2 deficiency|reticular dysgenesis|congenital Aleukia ordo_disease|gard_rare MONDO:0009972 respiratory underresponsiveness to hypoxia and hypercapnia biolink:Disease mondo OMIM:267480|MESH:C564848 http://identifiers.org/omim/267480|MESH:C564848 http://purl.obolibrary.org/obo/MONDO_0009972 respiratory underresponsiveness to hypoxia and hypercapnia MONDO:0010947 Budd-Chiari syndrome biolink:Disease mondo ICD9:453.0|COHD:196715|SCTID:82385007|MESH:D006502|MedDRA:10006537|Orphanet:131|UMLS:C0856761|GARD:0005968|ICD10:I82.0|OMIM:600880 Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. MESH:D006502|SNOMEDCT:82385007|http://identifiers.org/omim/600880|MEDDRA:10006537|ORPHA:131|UMLS:C0856761 http://purl.obolibrary.org/obo/MONDO_0010947 membranous obstruction of the inferior vena cava|Budd-Chiari syndrome|membranous obstruction of Inferior vena cava|Budd-Chiari syndrome; BDCHS|BDCHS gard_rare|ordo_disease MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type biolink:Disease mondo UMLS:C1861673|OMIM:118230|MESH:C566137 http://identifiers.org/omim/118230|MESH:C566137|UMLS:C1861673 http://purl.obolibrary.org/obo/MONDO_0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type MONDO:0009971 newborn respiratory distress syndrome biolink:Disease mondo DOID:12716|NCIT:C27560|OMIM:267450|EFO:1000644|UMLS:C0020192|ICD10:P22.0|UMLS:C0035220|ICD9:769|SCTID:46775006|UMLS:C1968593|GARD:0000112|Orphanet:70587 Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts. http://identifiers.org/omim/267450|UMLS:C0035220|NCIT:C27560|DOID:12716|ORPHA:70587|UMLS:C1968593|UMLS:C0020192|SNOMEDCT:46775006 http://purl.obolibrary.org/obo/MONDO_0009971 neonatal respiratory distress|NRDS|hyaline membrane disease|HMD - hyaline membrane disease|respiratory distress syndrome of newborn|infantile respiratory distress syndrome|respiratory distress syndrome|syndrome Of newborns (RDS), respiratory distress|pulmonary hyaline membrane disease|hyaline Membrane disease, formerly|respiratory distress syndrome Of newborns (RDS)|respiratory distress syndrome Of newborns|infant acute respiratory distress syndrome|respiratory distress syndrome, infant|RDS Of newborns|respiratory distress syndrome in premature infants|hyaline Membrane disease|RDS - infants|newborns (RDS), respiratory distress syndrome Of|infant ARDS|RDS of prematurity|infant acute respiratory distress syndrome|infant respiratory distress syndrome|RDS, respiratory distress syndrome Of newborns|RDS|neonatal respiratory distress syndrome|IRDS|pulmonary hypoperfusion syndrome of newborn|respiratory distress syndrome in the newborn gard_rare|ordo_disease MONDO:0010946 hypertrophic cardiomyopathy 6 biolink:Disease mondo DOID:0110312|OMIM:600858|MESH:C563436|UMLS:C1833236 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene. DOID:0110312|MESH:C563436|UMLS:C1833236|http://identifiers.org/omim/600858 http://purl.obolibrary.org/obo/MONDO_0010946 hypertrophic cardiomyopathy caused by mutation in PRKAG2|cardiomyopathy, familial hypertrophic, type 6|cardiomyopathy, familial hypertrophic 6|cardiomyopathy, familial hypertrophic, 6; CMH6|hypertrophic cardiomyopathy type 6|CMH6|PRKAG2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 6 MONDO:0010949 Charcot-Marie-Tooth disease type 2B biolink:Disease mondo ICD10:G60.0|OMIM:600882|UMLS:C1833219|GARD:0009192|DOID:0110159|SCTID:717008005|Orphanet:99936|MESH:C537989 Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. MESH:C537989|DOID:0110159|SNOMEDCT:717008005|UMLS:C1833219|ORPHA:99936|http://identifiers.org/omim/600882 http://purl.obolibrary.org/obo/MONDO_0010949 hereditary motor and sensory neuropathy 2 B (HMSN 2 B)|Charcot-Marie-Tooth disease, autosomal dominant, type 2B|CMT2B|Charcot-Marie-Tooth neuropathy, type 2B|HMSN2B|Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A|HMSN2B|hereditary motor and sensory nueropathy IIB|Charcot-Marie-Tooth disease, axonal, type 2B; CMT2B|Charcot-Marie-Tooth neuropathy type 2B|Charcot-Marie-Tooth disease, axonal, type 2B|RAB7A Charcot-Marie-Tooth disease type 2|peripheral sensory neuropathy, autosomal dominant (PSN)|hereditary motor and sensory neuropathy 2B|Charcot-Marie-Tooth disease, neuronal, type 2B|HMSN IIB|Charcot Marie Tooth disease type 2B|autosomal dominant Charcot-Marie-Tooth disease type 2B|CMT 2B gard_rare|ordo_disease MONDO:0009970 renal tubular dysgenesis of genetic origin biolink:Disease mondo ICD10:Q63.8|Orphanet:97369|OMIM:267430 An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. http://identifiers.org/omim/267430|ORPHA:97369 http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis|renal tubular dysgenesis; RTD|RTD|primitive renal tubule syndrome|renal tubular dysgenesis with choanal atresia and athelia|genetic renal tubular dysgenesis ordo_etiological_subtype MONDO:0010948 cataract 10 multiple types biolink:Disease mondo OMIM:600881|UMLS:C1833229|DOID:0110258|MESH:C563435|ICD10:Q12.0 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene. DOID:0110258|MESH:C563435|UMLS:C1833229|http://identifiers.org/omim/600881 http://purl.obolibrary.org/obo/MONDO_0010948 cataract, congenital zonular, with sutural opacities|early-onset non-syndromic cataract caused by mutation in CRYBA1|congenital zonular cataract with sutural opacities|CCZS|CRYBA1 early-onset non-syndromic cataract|cataract 10, multiple types; CTRCT10|cataract 10, multiple types|CTRCT10 UBERON:0004176 external genitalia biolink:AnatomicalEntity mondo The external genitalia are the outer sex organs, such as the penis or vulva in mammals http://purl.obolibrary.org/obo/UBERON_0004176 external reproductive organ|external sex organ|external genitalia UBERON:0004177 hemopoietic organ biolink:AnatomicalEntity mondo Organ that is part of the hematopoietic system. http://purl.obolibrary.org/obo/UBERON_0004177 hematopoeitic organ|organ of haemopoietic system|lymph organ|organa haemopoietica organ|haemopoietic system organ|hematopoietic system organ|lymphoid organ|organ of haematological system|organ of organa haemopoietica|hematopoeitic or lymphoid organ|organ of hematopoietic system|haematological system organ UBERON:0004175 internal genitalia biolink:AnatomicalEntity mondo The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals http://purl.obolibrary.org/obo/UBERON_0004175 internal sex organ|internal reproductive organ|internal genitalia|internal genitals MONDO:0010950 type 1 diabetes mellitus 8 biolink:Disease mondo OMIM:600883|MESH:C563433|DOID:0110747|ICD10:E10|UMLS:C1833218 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27. UMLS:C1833218|http://identifiers.org/omim/600883|DOID:0110747|MESH:C563433 http://purl.obolibrary.org/obo/MONDO_0010950 insulin-dependent diabetes mellitus 8|diabetes mellitus, insulin-dependent, 8; IDDM8|diabetes mellitus, insulin-dependent, 8|IDDM8 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts biolink:Disease mondo ICD10:H26.0|OMIM:600886|GARD:0002806|ICD9:289.89|ICD9:366.44|UMLS:C1833213|MESH:C538137|SCTID:702398007|Orphanet:163 Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload. UMLS:C1833213|MESH:C538137|SNOMEDCT:702398007|ORPHA:163|http://identifiers.org/omim/600886 http://purl.obolibrary.org/obo/MONDO_0010952 hereditary hyperferritinemia cataract syndrome|hyperferritinemia-cataract syndrome|Bonneau-Beaumont syndrome|HRFTC|cataract-hyperferritinemia syndrome|HHCS|hereditary hyperferritinemia-cataract syndrome|hyperferritinemia cataract syndrome|hyperferritinemia with or without cataract|hyperferritinemia with or without cataract; HRFTC|hyperferritinemia, hereditary, with congenital cataracts ordo_disease MONDO:0010951 dilated cardiomyopathy 1B biolink:Disease mondo DOID:0110443|ICD10:I42.0|OMIM:600884 A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13. http://identifiers.org/omim/600884|DOID:0110443 http://purl.obolibrary.org/obo/MONDO_0010951 CMD1B|cardiomyopathy, dilated, 1B|dilated cardiomyopathy type 1B|CMD1B|cardiomyopathy, familial dilated, 1|cardiomyopathy, familial dilated|cardiomyopathy, dilated, 1B; CMD1B MONDO:0022921 obsolete short stature-microcephaly-heart defect syndrome biolink:Disease mondo GARD:0000233 http://purl.obolibrary.org/obo/MONDO_0022921 short stature microcephaly heart defect|d'ercole syndrome gard_rare MONDO:0022926 daentl towsend Siegel syndrome biolink:Disease mondo MESH:C535768|GARD:0000236 MESH:C535768 http://purl.obolibrary.org/obo/MONDO_0022926 hydrocephalus blue sclera nephropathy|familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome gard_rare HGNC:2364 CRLF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2364 UBERON:0004178 aorta smooth muscle tissue biolink:AnatomicalEntity mondo the nonstriated, involuntary muscle tissue located in the wall of the aorta http://purl.obolibrary.org/obo/UBERON_0004178 aortic smooth muscle|aorta non-striated muscle|aorta smooth muscle MONDO:0010939 low phospholipid associated cholelithiasis biolink:Disease mondo SCTID:715577009|UMLS:C2609268|MedDRA:10068936|OMIM:600803|Orphanet:69663 Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years. ORPHA:69663|http://identifiers.org/omim/600803|UMLS:C2609268|SNOMEDCT:715577009|MEDDRA:10068936 http://purl.obolibrary.org/obo/MONDO_0010939 gallbladder disease 1|cholelithiasis, Low phospholipid-associated|LPAC|gallbladder disease type 1|ABCB4 gene mutation-associated cholelithiasis|GBD1|gallbladder disease 1; GBD1|cholelithiasis with ABCB4 gene mutation ordo_disease MONDO:0009949 pyruvate carboxylase deficiency disease biolink:Disease mondo NCIT:C85040|GARD:0007512|ICD9:277.89|OMIM:266150|ICD10:E74.4|UMLS:C0034341|DOID:3651|Orphanet:3008|EFO:1001142|UMLS:C2931141|MESH:D015324|UMLS:CN203409|SCTID:87694001 Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. MESH:D015324|UMLS:CN203409|DOID:3651|http://identifiers.org/omim/266150|NCIT:C85040|SNOMEDCT:87694001|UMLS:C2931141|UMLS:C0034341|ORPHA:3008 http://purl.obolibrary.org/obo/MONDO_0009949 Leigh syndrome due to pyruvate carboxylase deficiency|pyruvate carboxylase deficiency|Pc deficiency|ataxia with lactic acidosis type II|Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis 2|deficiency of pyruvic carboxylase|ataxia with lactic acidosis type 2|Leigh syndrome due to PC deficiency ordo_disease MONDO:0009948 pyropoikilocytosis, hereditary biolink:Disease mondo MESH:C563004|ICD9:790.09|OMIM:266140|Orphanet:98867|SCTID:9434008|NCIT:C98943|GARD:0004619 An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. ORPHA:98867|MESH:C563004|http://identifiers.org/omim/266140|NCIT:C98943|SNOMEDCT:9434008 http://purl.obolibrary.org/obo/MONDO_0009948 pyropoikilocytosis hereditary|hereditary pyropoikilocytosis|pyropoikilocytosis, hereditary|HPP|pyropoikilocytosis, hereditary; HPP gard_rare MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria biolink:Disease mondo ICD9:270.8|ICD10:D55.1|OMIM:266130|Orphanet:289846|SCTID:39112005 SNOMEDCT:39112005|http://identifiers.org/omim/266130|ORPHA:289846 http://purl.obolibrary.org/obo/MONDO_0009947 GSSD|glutathione synthetase deficiency|5-oxoprolinuria|pyroglutamic aciduria|glutathione synthetase deficiency; GSSD ordo_clinical_subtype MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency biolink:Disease mondo OMIM:266120|Orphanet:35120|UMLS:C1849507|MESH:C564859|ICD10:D55.3 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported. MESH:C564859|http://identifiers.org/omim/266120|UMLS:C1849507|ORPHA:35120 http://purl.obolibrary.org/obo/MONDO_0009946 hemolytic Anemia due to Umph1 deficiency|uridine 5'-monophosphate hydrolase deficiency|Umph1 deficiency|UMPH1 deficiency|hemolytic Anemia due to P5N deficiency|uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to|pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to|P5N deficiency ordo_disease MONDO:0009945 pyridoxine-dependent epilepsy biolink:Disease mondo GARD:0009298|MESH:C536254|ICD10:G40.8|SCTID:734434007|Orphanet:3006|UMLS:C1849508|UMLS:CN203406 Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). SNOMEDCT:734434007|MESH:C536254|UMLS:C1849508|UMLS:C1291560|ORPHA:3006|UMLS:CN203406 http://purl.obolibrary.org/obo/MONDO_0009945 epilepsy, pyridoxine-dependent; Epd|EPD|antiquitin deficiency|AASA dehydrogenase deficiency|pyridoxine dependency|epilepsy, pyridoxine-dependent|vitamin B6-dependent seizures|pyridoxine dependency with seizures|pyridoxine-dependent epilepsy ordo_disease|gard_rare MONDO:0009944 pyloric atresia biolink:Disease mondo MESH:C562561|SCTID:27729002|ICD9:750.7|OMIM:265950 SNOMEDCT:27729002|MESH:C562561|http://identifiers.org/omim/265950 http://purl.obolibrary.org/obo/MONDO_0009944 pyloric atresia MONDO:0009943 Pyle disease biolink:Disease mondo SCTID:27837003|ICD9:758.5|Orphanet:3005|OMIM:265900|MESH:C536252|GARD:0004612|ICD10:Q78.5|DOID:0080019 Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. DOID:0080019|MESH:C536252|SNOMEDCT:27837003|ORPHA:3005|http://identifiers.org/omim/265900 http://purl.obolibrary.org/obo/MONDO_0009943 Pyl|Pyle disease|Bakwin-Krida syndrome|Pyle's syndrome|Pyle disease; Pyl|metaphyseal dysplasia|metaphyseal dysplasia Pyle type|Pyle's disease|metaphyseal dysplasia|chondrodysplasia calcificans metaphysealis|metaphyseal dysplasia, Pyle type|Pyle-Cohn syndrome ordo_disease MONDO:0010932 progressive bifocal chorioretinal atrophy biolink:Disease mondo OMIM:600790|UMLS:C1833321|Orphanet:75373|SCTID:719266007|MESH:C535356|GARD:0010123 Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. MESH:C535356|SNOMEDCT:719266007|ORPHA:75373|UMLS:C1833321|http://identifiers.org/omim/600790 http://purl.obolibrary.org/obo/MONDO_0010932 chorioretinal atrophy, progressive bifocal|CRAPB|PBCRA|Crapb|progressive bifocal chorioretinal atrophy ordo_disease|gard_rare MONDO:0009942 pyknoachondrogenesis biolink:Disease mondo UMLS:C1849523|ICD10:Q78.8|GARD:0004610|MESH:C536251|SCTID:719258003|OMIM:265880|Orphanet:3003 Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. SNOMEDCT:719258003|MESH:C536251|UMLS:C1849523|http://identifiers.org/omim/265880|ORPHA:3003 http://purl.obolibrary.org/obo/MONDO_0009942 association of skeletal defects resembling achondrogenesis with generalized bone sclerosis|camera syndrome|pyknoachondrogenesis gard_rare|ordo_malformation_syndrome MONDO:0010931 vitamin D-dependent rickets, type 2B biolink:Disease mondo NCIT:C131076|SCTID:237895001|UMLS:C2748783|OMIM:600785 Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. UMLS:C2748783|SNOMEDCT:237895001|http://identifiers.org/omim/600785|NCIT:C131076 http://purl.obolibrary.org/obo/MONDO_0010931 hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia|vitamin D-dependent rickets, type 2B, with normal vitamin D receptor; VDDR2B|vitamin D-dependent rickets type II without alopecia|VDDR2B|vitamin D resistant rickets|vitamin D dependent rickets 2b|vitamin D receptor signaling defect rickets|vitamin D-dependent rickets, type 2B, with normal vitamin D receptor MONDO:0009941 Pygmy biolink:Disease mondo UMLS:C1849524|OMIM:265850 UMLS:C1849524|http://identifiers.org/omim/265850 http://purl.obolibrary.org/obo/MONDO_0009941 Pygmy|Pygmy, African MONDO:0010934 obsolete DFNB5 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010934 MONDO:0010933 autosomal recessive nonsyndromic deafness 4 biolink:Disease mondo MESH:C566366|OMIM:600791|DOID:0110498|ICD10:H90.3 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. DOID:0110498|http://identifiers.org/omim/600791|MESH:C566366 http://purl.obolibrary.org/obo/MONDO_0010933 neurosensory nonsyndromic recessive deafness 4|deafness, autosomal recessive 4, with enlarged vestibular aqueduct|DFNB4|dilated vestibular aqueduct|autosomal recessive nonsyndromic deafness type 4|autosomal recessive deafness 4 with enlarged vestibular aqueduct|deafness, autosomal recessive 4, with enlarged vestibular aqueduct; DFNB4 MONDO:0009940 pycnodysostosis biolink:Disease mondo UMLS:C0238402|GARD:0004611|OMIM:265800|SCTID:89647000|Orphanet:763|MESH:D058631|NCIT:C131187|DOID:0080038|ICD10:Q78.8 Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. NCIT:C131187|ORPHA:763|SNOMEDCT:89647000|http://identifiers.org/omim/265800|MESH:D058631|UMLS:C0238402|DOID:0080038 http://purl.obolibrary.org/obo/MONDO_0009940 pycnodysostosis|Pyknodysostosis|PKND|Pycd gard_rare|ordo_disease MONDO:0010936 frontotemporal dementia, chromosome 3-linked biolink:Disease mondo OMIM:600795|SCTID:702393003|MESH:C579991|ICD9:331.19|UMLS:C1833296 MESH:C579991|SNOMEDCT:702393003|UMLS:C1833296|http://identifiers.org/omim/600795 http://purl.obolibrary.org/obo/MONDO_0010936 frontotemporal dementia, chromosome 3-linked|Dmt1|FTD3|frontotemporal dementia, chromosome 3-linked; FTD3|dementia, familial nonspecific MONDO:0010935 obsolete neuronopathy, distal hereditary motor, type 5A biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010935 CHEBI:33937 macronutrient biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33937 MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency biolink:Disease mondo MESH:C563440|UMLS:C4273742|ICD10:D81.2|UMLS:C1833275|OMIM:600802|Orphanet:35078|SCTID:718107000 Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. SNOMEDCT:718107000|MESH:C563440|ORPHA:35078|UMLS:C1833275|http://identifiers.org/omim/600802|UMLS:C4273742 http://purl.obolibrary.org/obo/MONDO_0010938 SCID, T cell-negative, B cell-positive, NK cell-negative|T-B+ SCID due to JAK3 deficiency|severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE|T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency ordo_disease MONDO:0010937 isoproterenol-mediated vasodilatation biolink:Disease mondo UMLS:C1833276|OMIM:600801 UMLS:C1833276|http://identifiers.org/omim/600801 http://purl.obolibrary.org/obo/MONDO_0010937 isoproterenol-mediated vasodilatation MONDO:0022918 obsolete cytokine deficiency biolink:Disease mondo GARD:0009529 A disease that has its basis in the disruption of cytokine activity. http://purl.obolibrary.org/obo/MONDO_0022918 disorder of cytokine activity|disorder of cytokine activity|cytokine activity disease MONDO:0022919 cytokine receptor deficiency biolink:Disease mondo GARD:0009530 A disease that has its basis in the disruption of cytokine receptor activity. http://purl.obolibrary.org/obo/MONDO_0022919 disorder of cytokine receptor activity|disorder of cytokine receptor activity|cytokine receptor activity disease gard_rare HGNC:2372 MED23 biolink:OntologyClass mondo http://identifiers.org/hgnc/2372 UBERON:0004161 septum transversum biolink:AnatomicalEntity mondo A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. http://purl.obolibrary.org/obo/UBERON_0004161 transverse septum MONDO:0010941 nocturnal enuresis, 2 biolink:Disease mondo MESH:C563439|UMLS:C1833268|OMIM:600808 Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred. MESH:C563439|UMLS:C1833268|http://identifiers.org/omim/600808 http://purl.obolibrary.org/obo/MONDO_0010941 enuresis, nocturnal, 2|ENUR2|enuresis, nocturnal, 2; ENUR2 MONDO:0010940 inherited susceptibility to asthma biolink:Disease mondo OMIM:600807 http://identifiers.org/omim/600807 http://purl.obolibrary.org/obo/MONDO_0010940 asthma-related traits, susceptibility to|asthma, diminished response to Antileukotriene treatment 1N|asthma, protection against|asthma, susceptibility to|asthma, bronchial predisposition UBERON:0004160 proepicardium biolink:AnatomicalEntity mondo An embryonic group of progenitor cells that forms from an outpouching of the septum transversum near the venous pole of the heart and gives rise to the epicardium http://purl.obolibrary.org/obo/UBERON_0004160 proepicardial cluster|proepicardial organ HGNC:2379 CRTAP biolink:OntologyClass mondo http://identifiers.org/hgnc/2379 MONDO:0022912 cutis verticis gyrata mental deficiency biolink:Disease mondo GARD:0001644 http://purl.obolibrary.org/obo/MONDO_0022912 gard_rare MONDO:0022913 cutler bass Romshe syndrome biolink:Disease mondo GARD:0001646 http://purl.obolibrary.org/obo/MONDO_0022913 gard_rare MONDO:0022916 cystic hygroma lethal cleft palate biolink:Disease mondo GARD:0001653 http://purl.obolibrary.org/obo/MONDO_0022916 Cowchock Wapner Kurtz syndrome gard_rare HGNC:2375 MED17 biolink:OntologyClass mondo http://identifiers.org/hgnc/2375 MONDO:0010929 craniosynostosis 4 biolink:Disease mondo OMIM:600775|UMLS:C3806917 Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene. http://identifiers.org/omim/600775|UMLS:C3806917 http://purl.obolibrary.org/obo/MONDO_0010929 craniosynostosis 4|ERF craniosynostosis|craniosynostosis caused by mutation in ERF|CRS4|craniosynostosis 4; CRS4|craniosynostosis type 4 MONDO:0010928 dwarfism, familial, with muscle spasms biolink:Disease mondo GARD:0010610|OMIM:600771|MESH:C563447|UMLS:C1833341 http://identifiers.org/omim/600771|MESH:C563447|UMLS:C1833341 http://purl.obolibrary.org/obo/MONDO_0010928 dwarfism familial with muscle spasms|dwarfism, familial, with muscle spasms|familial dwarfism and painful muscle spasms gard_rare MONDO:0009959 peroxisome biogenesis disorder type 3B biolink:Disease mondo ICD10:G60.1|DOID:0050444|OMIM:266510 A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation. DOID:0050444|http://identifiers.org/omim/266510 http://purl.obolibrary.org/obo/MONDO_0009959 infantile phytanic acid storage disease|infantile Refsum disease|PBD3B|peroxisome biogenesis disorder type 3B|peroxisome biogenesis disorder 3B; PBD3B|peroxisome biogenesis disorder 3B MONDO:0009958 adult Refsum disease biolink:Disease mondo OMIM:266500|ICD10:G60.1|Orphanet:773|MESH:D012035|COHD:4101333|MedDRA:10038275|SCTID:25362006|ICD9:356.3|ICD9:272.8|DOID:10582|GARD:0005691 Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. MESH:D012035|ORPHA:773|http://identifiers.org/omim/266500|MEDDRA:10038275|UMLS:C0034960|DOID:10582|SNOMEDCT:25362006 http://purl.obolibrary.org/obo/MONDO_0009958 HMSN type IV|classic Refsum disease|phytanic-CoA hydroxylase deficiency|Heredopathia atactica polyneuritiformis|Refsum's disease|Refsum disease, adult, 1|Refsum disease, classic|hereditary motor and sensory neuropathy 4|hereditary sensory and motor neuropathy type 4|HMSN 4|hereditary motor and sensory neuropathy type 4|disorder of cornification 11 (phytanic acid type)|phytanic acid oxidase deficiency|HSMN IV|hypertrophic neuropathy of Refsum|Refsum disease|doc 11 (phytanic acid type) gard_rare|ordo_disease HP:0100871 Abnormality of the palm biolink:PhenotypicFeature mondo UMLS:C4021948 An abnormality of the palm, that is, of the front of the hand. http://purl.obolibrary.org/obo/HP_0100871 Abnormality of the palm HP:0100872 Abnormality of the plantar skin of foot biolink:PhenotypicFeature mondo UMLS:C4020946 An abnormality of the plantar part of foot, that is of the soles of the feet. http://purl.obolibrary.org/obo/HP_0100872 Minor feet anomalies MONDO:0009957 Reese retinal dysplasia biolink:Disease mondo GARD:0010566|UMLS:C1849450|OMIM:266400|MESH:C564854 MESH:C564854|UMLS:C1849450|http://identifiers.org/omim/266400 http://purl.obolibrary.org/obo/MONDO_0009957 Reese retinal dysplasia gard_rare MONDO:0009956 red skin pigment anomaly of new guinea biolink:Disease mondo MESH:C535515|OMIM:266350|UMLS:C1849451|GARD:0009757 MESH:C535515|UMLS:C1849451|http://identifiers.org/omim/266350 http://purl.obolibrary.org/obo/MONDO_0009956 red skin pigment anomaly of new guinea|Red skin pigment, New Guinea type gard_rare MONDO:0009955 rapadilino syndrome biolink:Disease mondo GARD:0004637|SCTID:702413000|OMIM:266280|MESH:C535288|DOID:0050774|ICD10:Q87.1|ICD9:759.89|Orphanet:3021|UMLS:C1849453 RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. MESH:C535288|DOID:0050774|SNOMEDCT:702413000|http://identifiers.org/omim/266280|UMLS:C1849453|ORPHA:3021 http://purl.obolibrary.org/obo/MONDO_0009955 rapadilino syndrome|radial and patellar hypoplasia|absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate|radial and patellar aplasia ordo_malformation_syndrome|gard_rare MONDO:0010921 nasal dermoid cyst biolink:Disease mondo ICD10:Q18.8|UMLS:C1833473|Orphanet:141103|OMIM:600679|MESH:C563455 A dermoid cyst that involves the nose. MESH:C563455|ORPHA:141103|UMLS:C1833473|http://identifiers.org/omim/600679 http://purl.obolibrary.org/obo/MONDO_0010921 dermoid cysts, familial frontonasal|nasal dermoid sinus cyst ordo_morphological_anomaly MONDO:0009954 Ramon syndrome biolink:Disease mondo Orphanet:3019|OMIM:266270|MESH:C535285|GARD:0007523|UMLS:C0796133|ICD10:Q87.8 MESH:C535285|http://identifiers.org/omim/266270|ORPHA:3019|UMLS:C0796133 http://purl.obolibrary.org/obo/MONDO_0009954 gingival fibromatosis combined with cherubism|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth|cherubism-gingival fibromatosis-intellectual disability syndrome|Ramon syndrome ordo_malformation_syndrome|gard_rare MONDO:0009953 leukocyte adhesion deficiency type II biolink:Disease mondo UMLS:C0398739|MESH:C535755|DOID:0070255|GARD:4634|ICD10:D84.8|NCIT:C4690|GARD:0004634|ORDO:99843|Orphanet:99843|OMIM:266265|SCTID:234583001 Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit. ORPHA:99843|UMLS:C0398739|MESH:C535755|http://identifiers.org/omim/266265|DOID:0070255|NCIT:C4690|SNOMEDCT:234583001 http://purl.obolibrary.org/obo/MONDO_0009953 leukocyte adhesion deficiency type 2|SLC35C1-CDG|leukocyte adhesion deficiency, type 2|CDG syndrome type IIc|SLC35C1-CDG (CDG-IIc)|CDG2C|CDG2C|congenital disorder of glycosylation, type IIc; CDG2C|Rambam-Hasharon syndrome|lad-II|RHS|congenital disorder of glycosylation type IIC|congenital disorder of glycosylation, type IIc|LAD2|CDGIIc|CDG-IIc|sialyl-Lewis X defect|lad-type II|CDG IIc|leukocyte adhesion deficiency, type II|CDG 2C ordo_clinical_subtype MONDO:0010920 microtia biolink:Disease mondo MESH:C537772|GARD:0000431|ICD10:Q17.2|SCTID:35045004|Orphanet:83463|COHD:378849|ICD9:744.23|OMIM:600674|MedDRA:10027555|MESH:D065817 Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal. ORPHA:83463|MESH:D065817|MEDDRA:10027555|SNOMEDCT:35045004|http://identifiers.org/omim/600674|MESH:C537772 http://purl.obolibrary.org/obo/MONDO_0010920 microtias, congenital|M-A|microtia, congenital|microtia-anotia|congenital microtias|anotia ordo_morphological_anomaly MONDO:0010923 proximal myopathy with focal depletion of mitochondria biolink:Disease mondo MESH:C563453|UMLS:C1833453|OMIM:600706|Orphanet:521305 MESH:C563453|ORPHA:521305|UMLS:C1833453|http://identifiers.org/omim/600706 http://purl.obolibrary.org/obo/MONDO_0010923 proximal myopathy with focal depletion of mitochondria ordo_disease MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome biolink:Disease mondo MESH:C538217|OMIM:266255|Orphanet:3270|SCTID:721883006|ICD10:Q87.8|MESH:C564856|GARD:0001810 Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). http://identifiers.org/omim/266255|MESH:C564856|SNOMEDCT:721883006|ORPHA:3270|MESH:C538217 http://purl.obolibrary.org/obo/MONDO_0009952 unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance|Der Kaloustian-McIntosh-Silver syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance|radioulnar synostosis, unilateral, with developmental retardation and hypotonia|radioulnar synostosis with developmental delay and hypotonia syndrome|radioulnar synostosis, unilateral, with developintellectual disability and hypotonia|der Kaloustian mcintosh silver syndrome ordo_malformation_syndrome|gard_rare MONDO:0010922 Satoyoshi syndrome biolink:Disease mondo OMIM:600705|UMLS:C1833454|Orphanet:3130|MESH:C536616|SCTID:763630007|GARD:0000160|MedDRA:10070579 Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system. MESH:C536616|ORPHA:3130|UMLS:C1833454|MEDDRA:10070579|SNOMEDCT:763630007|http://identifiers.org/omim/600705 http://purl.obolibrary.org/obo/MONDO_0010922 Satoyoshi syndrome|Komuragaeri disease|muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities|muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities ordo_disease|gard_rare MONDO:0009951 radiculoneuropathy, fatal neonatal biolink:Disease mondo OMIM:266250|UMLS:C1849471|MESH:C564857 http://identifiers.org/omim/266250|UMLS:C1849471|MESH:C564857 http://purl.obolibrary.org/obo/MONDO_0009951 Radiculoneuropathy, fatal neonatal MONDO:0010925 velo-facial-skeletal syndrome biolink:Disease mondo MESH:C536536|GARD:0005469|OMIM:600736|SCTID:763616002|UMLS:C1833380|Orphanet:3424|ICD10:Q87.0 Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. MESH:C536536|SNOMEDCT:763616002|ORPHA:3424|UMLS:C1833380|http://identifiers.org/omim/600736 http://purl.obolibrary.org/obo/MONDO_0010925 VELOFACIOSKELETAL syndrome ordo_malformation_syndrome MONDO:0009950 pyruvate kinase deficiency of red cells biolink:Disease mondo ICD10:D55.2|OMIM:266200|GARD:0007514|MESH:C564858|UMLS:C0340968|NCIT:C99037|DOID:0111077|SCTID:124331002|Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia. ORPHA:766|NCIT:C99037|http://identifiers.org/omim/266200|MESH:C564858|UMLS:C0340968|SNOMEDCT:124331002|DOID:0111077 http://purl.obolibrary.org/obo/MONDO_0009950 hemolytic anemia due to red cell pyruvate kinase deficiency|pyruvate kinase deficiency of erythrocyte|hemolytic Anemia due to pyruvate Kinase deficiency|pyruvate kinase deficiency|pyruvate kinase deficiency of red cells|PK deficiency|pyruvate kinase deficiency of erythrocytes|Pk deficiency ordo_disease MONDO:0010924 D-2-hydroxyglutaric aciduria biolink:Disease mondo ICD10:E72.8|DOID:0050575|GARD:0005661|UMLS:CN233040|UMLS:C1833429|Orphanet:79315|SCTID:237960000|OMIMPS:600721 D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid. DOID:0050575|ORPHA:79315|SNOMEDCT:237960000|UMLS:CN233040|UMLS:C1833429 http://purl.obolibrary.org/obo/MONDO_0010924 D-2-hydroxyglutaric acidemia|D-2-HGA|D2HGA|D2HA|D-2-hydroxyglutaric aciduria 1|D-2-hydroxyglutaric aciduria type 1 prototype_pattern|ordo_disease MONDO:0010927 orofacial cleft 3 biolink:Disease mondo UMLS:C1833369|MESH:C563448|OMIM:600757 http://identifiers.org/omim/600757|MESH:C563448|UMLS:C1833369 http://purl.obolibrary.org/obo/MONDO_0010927 cleft lip with or without cleft palate, nonsyndromic, 3|OFC3|orofacial cleft 3|orofacial cleft 3; OFC3 MONDO:0010926 familial hypocalciuric hypercalcemia 3 biolink:Disease mondo MESH:C537147|UMLS:C1833372|GARD:0002878|Orphanet:101050|OMIM:600740|ICD10:E83.5|DOID:0060702 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene. http://identifiers.org/omim/600740|ORPHA:101050|DOID:0060702|UMLS:C1833372|MESH:C537147 http://purl.obolibrary.org/obo/MONDO_0010926 hypercalcemia, familial benign, Oklahoma type|FHH type 3|familial benign hypercalcemia, Oklahoma variant|familial benign hypercalcemia, type 3|familial hypocalciuric hypercalcemia type 3|hypocalciuric hypercalcemia type III|FBHOk|HHC3|hypercalcemia, familial benign, type 3|hypocalciuric hypercalcemia, familial, type 3|hypocalciuric hypercalcemia, familial, type III|AP2S1 familial hypocalciuric hypercalcemia|FBH3|familial hypocalciuric hypercalcemia caused by mutation in AP2S1|hypocalciuric hypercalcemia, familial, type III; HHC3 ordo_etiological_subtype MONDO:0022907 cutaneous sclerosis biolink:Disease mondo GARD:0009752 http://purl.obolibrary.org/obo/MONDO_0022907 gard_rare HGNC:2384 CRY1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2384 MONDO:0022908 cutis gyratum acanthosis nigricans craniosynostosis biolink:Disease mondo GARD:0001635 http://purl.obolibrary.org/obo/MONDO_0022908 gard_rare HGNC:2383 CRX biolink:OntologyClass mondo http://identifiers.org/hgnc/2383 MONDO:0022909 cutis laxa osteoporosis biolink:Disease mondo GARD:0001637 http://purl.obolibrary.org/obo/MONDO_0022909 gard_rare UBERON:0004151 cardiac chamber biolink:AnatomicalEntity mondo A cardiac chamber surrounds an enclosed cavity within the heart http://purl.obolibrary.org/obo/UBERON_0004151 chamber of heart|heart chamber MONDO:0010930 anophthalmia plus syndrome biolink:Disease mondo GARD:0000719|ICD10:Q87.8|SCTID:720496006|OMIM:600776|MESH:C537767|Orphanet:1104|UMLS:C1833339 Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. UMLS:C1833339|SNOMEDCT:720496006|ORPHA:1104|http://identifiers.org/omim/600776|MESH:C537767 http://purl.obolibrary.org/obo/MONDO_0010930 Leichtman Wood Rohn syndrome|anophthalmia-plus syndrome|Fryns anophthalmia syndrome|Fryns microphthalmia syndrome|microphthalmia with facial clefting|anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder ordo_malformation_syndrome|gard_rare MONDO:0022900 athyreotic congenital hypothyroidism biolink:Disease mondo GARD:0001610 Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia) http://purl.obolibrary.org/obo/MONDO_0022900 cretinism athyreotic gard_rare MONDO:0022901 Crohn disease of the esophagus biolink:Disease mondo GARD:0000203|UMLS:C0341116 An Crohn disease involving a pathogenic inflammatory response in the esophagus. UMLS:C0341116 http://purl.obolibrary.org/obo/MONDO_0022901 Crohn's disease of the esophagus gard_rare HGNC:2389 CRYAB biolink:OntologyClass mondo http://identifiers.org/hgnc/2389 HGNC:2388 CRYAA biolink:OntologyClass mondo http://identifiers.org/hgnc/2388 MONDO:0022904 cryofibrinogenemia biolink:Disease mondo MESH:C536218|SCTID:10934005|UMLS:C0272263|ICD9:286.9|GARD:0009908 MESH:C536218|SNOMEDCT:10934005|UMLS:C0272263 http://purl.obolibrary.org/obo/MONDO_0022904 cryofibrinogenemia gard_rare UBERON:0006717 autopodial skeleton biolink:AnatomicalEntity mondo The collection of all skeletal elements in an autopodium region. http://purl.obolibrary.org/obo/UBERON_0006717 skeletal parts of autopod|skeleton of autopod|autopodial skeleton|autopod skeleton|autopodium UBERON:0006716 mesopodium region biolink:AnatomicalEntity mondo The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) http://purl.obolibrary.org/obo/UBERON_0006716 mesopodial limb segment|carpus/tarsus|mesopod|mesopodial segment HP:0002410 Aqueductal stenosis biolink:PhenotypicFeature mondo MSH:D006849|UMLS:C2936786 Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. http://purl.obolibrary.org/obo/HP_0002410 Aqueduct stenosis|Narrowing of aqueduct of Sylvius|Aqueduct of Sylvius stenosis HP:0002414 Spina bifida biolink:PhenotypicFeature mondo SNOMEDCT_US:67531005|Fyler:4157|UMLS:C0080178|MSH:D016135 Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. http://purl.obolibrary.org/obo/HP_0002414 Split spine UBERON:0006723 cochlear modiolus biolink:AnatomicalEntity mondo the central cone shaped core of spongy bone about which turns the spiral canal http://purl.obolibrary.org/obo/UBERON_0006723 modiolus cochleae|modiolus of cochlea|cochlea modiolus|modiolus|columella cochleae GO:0032941 secretion by tissue biolink:OntologyClass mondo The controlled release of a substance by a tissue. http://purl.obolibrary.org/obo/GO_0032941 expulsion of gland contents|tissue secretion GO:0005342 organic acid transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0005342 UBERON:0006715 radio-ulna biolink:AnatomicalEntity mondo Paired, long bones of endochondral origin formed by the fusion of the radius and ulna. http://purl.obolibrary.org/obo/UBERON_0006715 radius+ulna|radioulna|radius-ulna GO:0032940 secretion by cell biolink:OntologyClass mondo The controlled release of a substance by a cell. http://purl.obolibrary.org/obo/GO_0032940 cellular secretion NCBITaxon:6179 Digenea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6179 flukes|Digenea NCBITaxon:6178 Trematoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6178 HGNC:4908 HIBCH biolink:OntologyClass mondo http://identifiers.org/hgnc/4908 GO:0019955 cytokine binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity. http://purl.obolibrary.org/obo/GO_0019955 IL binding|interleukin binding GO:0019953 sexual reproduction biolink:OntologyClass mondo A reproduction process that creates a new organism by combining the genetic material of two gametes, which may come from two organisms or from a single organism, in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. It occurs both in eukaryotes and prokaryotes: in multicellular eukaryotic organisms, an individual is created anew; in prokaryotes, the initial cell has additional or transformed genetic material. In a process called genetic recombination, genetic material (DNA) originating from two gametes join up so that homologous sequences are aligned with each other, and this is followed by exchange of genetic information. After the new recombinant chromosome is formed, it is passed on to progeny. http://purl.obolibrary.org/obo/GO_0019953 HGNC:4912 HINT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4912 HGNC:4913 HIP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4913 HGNC:4921 HIVEP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4921 HGNC:4922 HK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4922 NCBITaxon:6157 Platyhelminthes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6157 flatworm|flatworms|flatworms GO:0150075 negative regulation of protein-glutamine gamma-glutamyltransferase activity biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. http://purl.obolibrary.org/obo/GO_0150075 GO:0150074 positive regulation of protein-glutamine gamma-glutamyltransferase activity biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. http://purl.obolibrary.org/obo/GO_0150074 GO:0150073 regulation of protein-glutamine gamma-glutamyltransferase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. http://purl.obolibrary.org/obo/GO_0150073 MONDO:0044299 myasthenic syndrome, congenital, 22 biolink:Disease mondo UMLS:C4479088|OMIM:616224 http://identifiers.org/omim/616224|UMLS:C4479088 http://purl.obolibrary.org/obo/MONDO_0044299 CMS22|myasthenic syndrome, congenital, 22; CMS22|Prepl deficiency UBERON:0006761 corneo-scleral junction biolink:AnatomicalEntity mondo the edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm http://purl.obolibrary.org/obo/UBERON_0006761 corneal limbus|corneoscleral junction|sclerocorneal junction|limbus corneae|corneal-scleral limbus|sclerocorneal limbus|limbus corneae|cornea limbus HP:0002459 obsolete Dysautonomia biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0002459 HGNC:4931 HLA-A biolink:OntologyClass mondo http://identifiers.org/hgnc/4931 HGNC:4932 HLA-B biolink:OntologyClass mondo http://identifiers.org/hgnc/4932 HGNC:4933 HLA-C biolink:OntologyClass mondo http://identifiers.org/hgnc/4933 UBERON:0004108 clivus of occipital bone biolink:AnatomicalEntity mondo Part of the cranium, the clivus is a shallow depression behind the dorsum sellC& that slopes obliquely backward. It forms a gradual sloping process at the anterior most portion of the basilar occipital bone at its junction with the sphenoid bone. On axial planes, it sits just posterior to the sphenoid sinuses. Just lateral to the clivus bilaterally is the foramen lacerum which contains the internal carotid artery, proximal to its anastamosis with the Circle of Willis. Posterior to the clivus is the basilar artery. The clivus supports the upper part of the pons. http://purl.obolibrary.org/obo/UBERON_0004108 clivus ossis occipitalis|occipital bone clivus|clivus|Wackenheim's clivus line UBERON:0004105 subungual region biolink:AnatomicalEntity mondo Region beneath a nail or claw. http://purl.obolibrary.org/obo/UBERON_0004105 UBERON:0004103 alveolar ridge biolink:AnatomicalEntity mondo one of the two jaw ridges either on the roof of the mouth between the upper teeth and the hard palate or on the bottom of the mouth behind the lower teeth[WP]. The alveolar ridges contain the sockets (alveoli) of the teeth[HP]. http://purl.obolibrary.org/obo/UBERON_0004103 margo alveolaris|alveolar bone|alveolar body|alveolar process|alveolar margin NCBITaxon:91347 Enterobacterales organism taxon mondo PMID:27620848|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacteriales|Enterobacteriaceae and related endosymbionts|enterobacteria|Enterobacteriaceae group|gamma-3 proteobacteria HP:0002450 Abnormal motor neuron morphology biolink:PhenotypicFeature mondo UMLS:C4025707 Any structural anomaly that affects the motor neuron. http://purl.obolibrary.org/obo/HP_0002450 Abnormal shape of motor neuron UBERON:0006763 epithelium of conjunctiva biolink:AnatomicalEntity mondo Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue http://purl.obolibrary.org/obo/UBERON_0006763 conjunctiva epithelium|conjunctival epithelium HGNC:4942 HLA-DQA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4942 HGNC:4944 HLA-DQB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4944 UBERON:0006757 lateral lingual swelling biolink:AnatomicalEntity mondo During the third week there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings (or distal tongue bud) which rise from the inner surface of the mandibular arch and meet in the middle line. http://purl.obolibrary.org/obo/UBERON_0006757 lateral lingual prominence|tuberculum laterale|lateral swellings|tuberculum linguale laterale UBERON:0006756 median lingual swelling biolink:AnatomicalEntity mondo During the third week of embryological development there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings which rise from the inner surface of the mandibular arch and meet in the middle line. The site of their meeting remains post-embryonically as the median sulcus of the tongue. The tuberculum impar is said to form the central part of the tongue immediately in front of the foramen cecum, but Hammar insists that it is purely a transitory structure and forms no part of the adult tongue[WP, Gray's]. http://purl.obolibrary.org/obo/UBERON_0006756 median lingual swelling|median tongue bud|tuberculum linguale mediale|tuberculum impar HP:0002438 Cerebellar malformation biolink:PhenotypicFeature mondo UMLS:C4025708 http://purl.obolibrary.org/obo/HP_0002438 HGNC:4948 HLA-DRB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4948 NCBITaxon:6182 Schistosoma japonicum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6182 GO:0019915 lipid storage biolink:OntologyClass mondo The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/GO_0019915 storage of lipids|sequestering of lipids|sequestration of lipid|lipid sequestration|sequestration of lipids|lipid sequestering|lipid retention|retention of lipids NCBITaxon:6183 Schistosoma mansoni organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6183 NCBITaxon:6180 Strigeidida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6180 Strigeida NCBITaxon:6181 Schistosoma organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6181 HP:0002435 Meningocele biolink:PhenotypicFeature mondo SNOMEDCT_US:171131006|MSH:D008588|UMLS:C0025299 Protrusion of the meninges through a defect of the vertebral column. http://purl.obolibrary.org/obo/HP_0002435 CHEBI:55324 gastrointestinal drug biolink:ChemicalSubstance mondo A drug used for its effects on the gastrointestinal system, e.g. controlling gastric acidity, regulating gastrointestinal motility and water flow, and improving digestion. http://purl.obolibrary.org/obo/CHEBI_55324 gastrointestinal agents|gastrointestinal agent|gastrointestinal drugs CHEBI:55323 antidiarrhoeal drug biolink:ChemicalSubstance mondo Any drug found useful in the symptomatic treatment of diarrhoea. http://purl.obolibrary.org/obo/CHEBI_55323 antidiarrheal drug|antiperistaltic drug|antidiarrheal agents|antiperistaltic agents|antiperistaltic agent|antidiarrheal agent|antiperistaltic drugs|antidiarrheal drugs|antiperistaltic|antidiarrhoeal agent|antidiarrhoeals|antidiarrheal|antidiarrhoeal drugs|antidiarrheals|antidiarrhoeal agents|antidiarrhoeal|antiperistaltics CHEBI:57986 riboflavin(1-) biolink:ChemicalSubstance mondo The anion resulting from removal of a proton from the nitrogen at the 3 position (between the two carbonyl gropus) of riboflavin. http://purl.obolibrary.org/obo/CHEBI_57986 riboflavin|7,8-dimethyl-2,4-dioxo-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]-2H,3H,4H,10H-benzo[g]pteridin-3-ide|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-2H-benzo[g]pteridin-3-id-10(4H)-yl)-D-ribitol NCBITaxon:6187 Schistosoma intercalatum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6187 CHEBI:57981 D-phenylalanine zwitterion biolink:ChemicalSubstance mondo A D-alpha-amino acid zwitterion that is D-phenylalanine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_57981 D-phenylalanine|(2R)-2-azaniumyl-3-phenylpropanoate|(2R)-2-ammonio-3-phenylpropanoate UBERON:0006742 canthus biolink:AnatomicalEntity mondo A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. http://purl.obolibrary.org/obo/UBERON_0006742 canthorum|canthoplasty|bicanthal|canthus (anatomy)|canthus of eye|angle of eye|canthi|palpebral commissure|bicanthal plane GO:0150063 visual system development biolink:OntologyClass mondo The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. http://purl.obolibrary.org/obo/GO_0150063 visual pathway development|optic pathway development NCBITaxon:6193 Opisthorchiida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6193 NCBITaxon:6194 Opisthorchiata organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6194 HGNC:4964 HLA-G biolink:OntologyClass mondo http://identifiers.org/hgnc/4964 UBERON:0018707 bladder organ biolink:AnatomicalEntity mondo A membranous sac in animals that serves as the receptacle of a liquid or contains gas. http://purl.obolibrary.org/obo/UBERON_0018707 bladder NCBITaxon:6199 Cestoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6199 tapeworms MONDO:0019173 rabies biolink:Disease mondo Orphanet:770|ICD10:A82.1|SCTID:14168008|ICD10:A82.0|MedDRA:10037742|DOID:11260|UMLS:C0034494|GARD:0007516|NCIT:C28182|ICD9:071|ICD10:A82|ICD10:A82.9|COHD:377793|MESH:D011818 Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated. MEDDRA:10037742|SNOMEDCT:14168008|NCIT:C28182|ORPHA:770|MESH:D011818|DOID:11260|UMLS:C0034494 http://purl.obolibrary.org/obo/MONDO_0019173 lyssa gard_rare|ordo_disease MONDO:0020162 secondary ectropion biolink:Disease mondo Orphanet:98571|ICD10:H02.1 ORPHA:98571 http://purl.obolibrary.org/obo/MONDO_0020162 ordo_group_of_disorders MONDO:0020161 congenital ectropion biolink:Disease mondo SCTID:26590002|ICD10:Q10.1|Orphanet:98570 UMLS:C0266578|ORPHA:98570|SNOMEDCT:26590002 http://purl.obolibrary.org/obo/MONDO_0020161 ordo_group_of_disorders MONDO:0019172 aniridia biolink:Disease mondo MedDRA:10002532|GARD:0005816|ICD9:743.45|DOID:12271|UMLS:C0003076|SCTID:69278003|ICD10:Q13.1|Orphanet:77|MESH:D015783|NCIT:C84563 Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). NCIT:C84563|UMLS:C2931795|UMLS:C0003076|MESH:C538293|MESH:D015783|SNOMEDCT:69278003|DOID:12271|MEDDRA:10002532|ORPHA:77 http://purl.obolibrary.org/obo/MONDO_0019172 aplasia of iris ordo_group_of_disorders|gard_rare MONDO:0019175 primary lymphedema biolink:Disease mondo ICD10:I89.0|Orphanet:77240|NCIT:C48829 A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. NCIT:C48829|ORPHA:77240 http://purl.obolibrary.org/obo/MONDO_0019175 primary lymphedema|Troncular lymphatic malformation ordo_group_of_disorders MONDO:0020160 secondary entropion biolink:Disease mondo Orphanet:98569|ICD10:H02.0 ORPHA:98569 http://purl.obolibrary.org/obo/MONDO_0020160 ordo_group_of_disorders MONDO:0019174 infantile Refsum disease biolink:Disease mondo GARD:0004648|UMLS:C0282527|MESH:D052919|SCTID:238062008|ICD10:G60.1|NCIT:C84789|Orphanet:772 Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD). NCIT:C84789|SNOMEDCT:238062008|UMLS:C0282527|ORPHA:772|MESH:D052919 http://purl.obolibrary.org/obo/MONDO_0019174 Refsum disease, infantile form|IRD|infantile form of phytanic acid storage disease ordo_disease MONDO:0019171 familial long QT syndrome biolink:Disease mondo UMLS:C1141890|ICD10:I45.8|SCTID:442917000|Orphanet:768|OMIMPS:192500|MedDRA:10057926 Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. UMLS:C1141890|ORPHA:768|SNOMEDCT:442917000|MEDDRA:10057926 http://purl.obolibrary.org/obo/MONDO_0019171 LQTS|congenital long QT syndrome|hereditary long QT syndrome clingen|ordo_disease NCBITaxon:1173061 Geotrichum candidum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1173061 Galactomyces geotrichum|Oospora lactis|Dipodascus geotrichum|Galactomyces candidum|Galactomyces candidus|Endomyces geotrichum MONDO:0019170 polyarteritis nodosa biolink:Disease mondo GARD:0007360|SCTID:155441006|ICD9:446.0|Orphanet:767|MedDRA:10036024|DOID:9810|UMLS:C0031036|NCIT:C26847|MESH:D010488|COHD:320749|ICD10:M30.0 Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney. UMLS:C0031036|MEDDRA:10036024|ORPHA:767|MESH:D010488|DOID:9810|SNOMEDCT:155441006|NCIT:C26847 http://purl.obolibrary.org/obo/MONDO_0019170 panarteritis nodosa|periarteritis nodosa|polyarteritis nodosa|classic polyarteritis nodosa|polyarteritis|periarteritis|PAN|Küssmaul-Maier disease|classical polyarteritis nodosa ordo_disease MONDO:0044137 vitreous body disorder biolink:Disease mondo NCIT:C45256|ICD9:379.29|EFO:0008624|UMLS:C0155365|SCTID:76682005 Any disease affecting the vitreous body of the eye. SNOMEDCT:76682005|NCIT:C45256|UMLS:C0155365 http://purl.obolibrary.org/obo/MONDO_0044137 vitreous body disease|vitreous body disease or disorder|vitreous body disorder|disease of vitreous body|disorder of vitreous body|disorder of vitreous body|disease or disorder of vitreous body MONDO:0020169 rare disorder with ptosis biolink:Disease mondo UMLS:CN207031|MedDRA:10015995|Orphanet:98578|MedDRA:10037272 MEDDRA:10037272|ORPHA:98578|MESH:D001763|UMLS:CN207031|UMLS:C0005745|MEDDRA:10015995|UMLS:C0033377 http://purl.obolibrary.org/obo/MONDO_0020169 obsoletion_candidate|ordo_group_of_disorders GO:0042488 positive regulation of odontogenesis of dentin-containing tooth biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. http://purl.obolibrary.org/obo/GO_0042488 activation of odontogenesis|positive regulation of odontogenesis of dentine-containing tooth|stimulation of odontogenesis|up-regulation of odontogenesis|up regulation of odontogenesis|positive regulation of odontogenesis of dentine-containing teeth|upregulation of odontogenesis MONDO:0020168 obsolete kinetic eyelid anomaly biolink:Disease mondo Orphanet:98577 ORPHA:98577 http://purl.obolibrary.org/obo/MONDO_0020168 MONDO:0020167 malposition of external canthus biolink:Disease mondo Orphanet:98576|ICD10:Q10.3 ORPHA:98576 http://purl.obolibrary.org/obo/MONDO_0020167 ordo_group_of_disorders MONDO:0044138 hyalitis biolink:Disease mondo SCTID:95802009|EFO:1001907|NCIT:C50587|UMLS:C0235812 Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina. SNOMEDCT:95802009|NCIT:C50587|UMLS:C0235812 http://purl.obolibrary.org/obo/MONDO_0044138 vitritis|hyaloiditis|hyalitis|Vitreitis|Vitritis GO:0042487 regulation of odontogenesis of dentin-containing tooth biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. http://purl.obolibrary.org/obo/GO_0042487 regulation of odontogenesis of dentine-containing teeth|regulation of odontogenesis of dentine-containing tooth MONDO:0007188 primary basilar invagination biolink:Disease mondo GARD:0001037|Orphanet:2285|OMIM:109500|UMLS:C1862299|ICD10:Q75.8|MESH:C566226 Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction. UMLS:C1862299|http://identifiers.org/omim/109500|ORPHA:2285|MESH:C566226 http://purl.obolibrary.org/obo/MONDO_0007188 basilar impression, primary|primary basilar impression|Bull-Nixon syndrome ordo_morphological_anomaly GO:0042482 positive regulation of odontogenesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth. http://purl.obolibrary.org/obo/GO_0042482 stimulation of odontogenesis|upregulation of odontogenesis|positive regulation of tooth development|up-regulation of odontogenesis|positive regulation of odontogenesis of calcareous or chitinous tooth|up regulation of odontogenesis|activation of odontogenesis MONDO:0020166 obsolete telecanthus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020166 GO:0042481 regulation of odontogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth. http://purl.obolibrary.org/obo/GO_0042481 regulation of odontogenesis of calcareous or chitinous tooth|regulation of tooth development MONDO:0020165 syndromic epicanthus biolink:Disease mondo Orphanet:98574|UMLS:CN227805 UMLS:CN227805|ORPHA:98574 http://purl.obolibrary.org/obo/MONDO_0020165 ordo_group_of_disorders MONDO:0007189 B-cell growth factor biolink:Disease mondo OMIM:109540 http://identifiers.org/omim/109540 http://purl.obolibrary.org/obo/MONDO_0007189 B-cell growth factor; BCGF|B-cell growth Factor 1|B-cell growth factor|BCGF MONDO:0007186 gastroesophageal reflux disease biolink:Disease mondo COHD:318800|DOID:8534|OMIM:109350|ICD10:K21|UMLS:C0017168|ICD9:530.81|EFO:0003948|NCIT:C26781|MESH:D005764|ICD10:K21.9|SCTID:235595009 A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. MESH:D005764|NCIT:C26781|DOID:8534|http://identifiers.org/omim/109350|SNOMEDCT:235595009|NCIT:C92560|UMLS:C0017168 http://purl.obolibrary.org/obo/MONDO_0007186 GERD|gastroesophageal reflux, pediatric|gastro-esophageal reflux|GERD - gastro-esophageal reflux disease|Gastresophageal reflux|gastroesophageal reflux|gastroesophageal reflux disease|ger|acid reflux|gastroesophageal reflux; ger MONDO:0020164 epicanthal fold biolink:Disease mondo Orphanet:98573|ICD10:Q10.3 ORPHA:98573 http://purl.obolibrary.org/obo/MONDO_0020164 ordo_group_of_disorders MONDO:0007187 nevoid basal cell carcinoma syndrome biolink:Disease mondo NCIT:C2892|Orphanet:377|SCTID:69408002|OMIM:109400|DOID:2512|ICD10:Q87.8|MedDRA:10062804|GARD:0007166|UMLS:C0004779|MESH:D001478 A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. UMLS:C0004779|http://identifiers.org/omim/109400|MESH:D001478|NCIT:C2892|SNOMEDCT:69408002|ORPHA:377|DOID:2512|MEDDRA:10062804 http://purl.obolibrary.org/obo/MONDO_0007187 multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies|Gorlin-Goltz syndrome|BCNS|NBCCS|nevoid basal cell carcinoma syndrome|basal cell nevus syndrome; BCNS|basal cell nevus syndrome|basal cell nevus syndrome|nevoid basal cell cancer syndrome|Gorlin syndrome|multiple basal cell carcinomas clingen|ordo_malformation_syndrome GO:0042483 negative regulation of odontogenesis biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth. http://purl.obolibrary.org/obo/GO_0042483 down-regulation of odontogenesis|down regulation of odontogenesis|negative regulation of odontogenesis of calcareous or chitinous tooth|negative regulation of tooth development|inhibition of odontogenesis|downregulation of odontogenesis MONDO:0020163 canthal anomaly biolink:Disease mondo Orphanet:98572 ORPHA:98572 http://purl.obolibrary.org/obo/MONDO_0020163 ordo_group_of_disorders MONDO:0007184 AGA1 biolink:Disease mondo OMIM:109200 http://identifiers.org/omim/109200 http://purl.obolibrary.org/obo/MONDO_0007184 AGA1|baldness, Male pattern|alopecia, androgenetic, 1; AGA1|alopecia, androgenetic, 1 MONDO:0007185 Banki syndrome biolink:Disease mondo GARD:0000813|ICD10:Q68.1|Orphanet:1228|MESH:C566228|SCTID:733093004|OMIM:109300|UMLS:C1862319 Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. UMLS:C1862319|http://identifiers.org/omim/109300|MESH:C566228|ORPHA:1228|SNOMEDCT:733093004 http://purl.obolibrary.org/obo/MONDO_0007185 fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)|Banki syndrome gard_rare|ordo_malformation_syndrome MONDO:0007182 Machado-Joseph disease biolink:Disease mondo OMIM:109150|Orphanet:98757|UMLS:C0024408|SCTID:91952008|ICD10:G11.8|ICD9:336.8|NCIT:C84830|DOID:1440|GARD:0006801|MESH:D017827 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. MESH:D017827|NCIT:C84830|http://identifiers.org/omim/109150|ORPHA:98757|UMLS:C0024408|SNOMEDCT:91952008|DOID:1440 http://purl.obolibrary.org/obo/MONDO_0007182 Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia|Nigrospinodentatal Degeneration|spinocerebellar ataxia 3|SCA3|Spinopontine atrophy|Azorean disease of the nervous system|Azorean disease|Machado-Joseph disease; MJD|Machado-Joseph disease|spinocerebellar ataxia type 3|MJD|spinocerebellar atrophy type 3|spinocerebellar atrophy 3|autosomal dominant striatonigral degeneration|Azorean neurologic disease|Machado disease ordo_disease MONDO:0007183 azotemia, familial biolink:Disease mondo UMLS:C1862358|OMIM:109160|MESH:C566233 http://identifiers.org/omim/109160|UMLS:C1862358|MESH:C566233 http://purl.obolibrary.org/obo/MONDO_0007183 azotemia, familial MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities biolink:Disease mondo OMIM:109120|Orphanet:1831|MESH:C566234|UMLS:C1862373 http://identifiers.org/omim/109120|UMLS:C1862373|MESH:C566234|ORPHA:1831 http://purl.obolibrary.org/obo/MONDO_0007180 De Hauwere syndrome|Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities|iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness MONDO:0007181 axial osteomalacia biolink:Disease mondo GARD:0008431|OMIM:109130|MESH:C537791|DOID:0080039|UMLS:C1862372 UMLS:C1862372|http://identifiers.org/omim/109130|DOID:0080039|MESH:C537791 http://purl.obolibrary.org/obo/MONDO_0007181 axial osteomalacia|atypical osteomalacia involving the axial skeleton gard_rare GO:0042489 negative regulation of odontogenesis of dentin-containing tooth biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx. http://purl.obolibrary.org/obo/GO_0042489 negative regulation of odontogenesis of dentine-containing teeth|down regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing tooth|downregulation of odontogenesis|inhibition of odontogenesis|down-regulation of odontogenesis|negative regulation of odontogenesis MONDO:0019177 odontoleukodystrophy biolink:Disease mondo GARD:0009632|Orphanet:77295|ICD10:E75.2|SCTID:722064003 Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. ORPHA:77295|SNOMEDCT:722064003 http://purl.obolibrary.org/obo/MONDO_0019177 dentoleukoencephalopathy|leukodystrophy with oligodontia ordo_disease MONDO:0019176 trichorhinophalangeal syndrome type I or III biolink:Disease mondo ICD10:Q87.1|UMLS:CN205736|Orphanet:77258 Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. ORPHA:77258|UMLS:CN205736 http://purl.obolibrary.org/obo/MONDO_0019176 trichorhinophalangeal syndrome type 1 and 3 ordo_malformation_syndrome MONDO:0019179 monosomy 9q22.3 biolink:Disease mondo Orphanet:77301|ICD10:Q93.5|UMLS:C3711390|SCTID:724098008|MESH:C579873 Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. ORPHA:77301|MESH:C579873|UMLS:C3711390|SNOMEDCT:724098008 http://purl.obolibrary.org/obo/MONDO_0019179 microdeletion 9q22.3 ordo_malformation_syndrome MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome biolink:Disease mondo Orphanet:77300|ICD10:Q87.0|UMLS:CN205748 The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. ORPHA:77300|UMLS:CN205748 http://purl.obolibrary.org/obo/MONDO_0019178 ordo_malformation_syndrome MONDO:0019162 pseudohypoaldosteronism type 2 biolink:Disease mondo ICD9:588.89|ICD10:I15.1|NCIT:C123252|Orphanet:757|GARD:0004553|UMLS:C1449844|OMIMPS:145260|SCTID:15689008 Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function. NCIT:C123252|UMLS:C1449844|ORPHA:757|SNOMEDCT:15689008 http://purl.obolibrary.org/obo/MONDO_0019162 PHAII|PHA2|chloride shunt syndrome|Spitzer-Weinstein syndrome|familial hyperkalemic hypertension|Gordon syndrome|hyperpotassemia and hypertension familial|pseudohypoaldosteronism, type II|pseudohypoaldosteronism, type 2|hyperkalemia-hypertension syndrome, Gordon type|hypertensive hyperkalemia|mineralocorticoid resistant hyperkalemia|Gordon hyperkalemia-hypertension syndrome ordo_disease MONDO:0020151 obsolete rare palpebral disease biolink:Disease mondo Orphanet:98560 Any of the forms of eyelid disease that have a rare incidence. ORPHA:98560 http://purl.obolibrary.org/obo/MONDO_0020151 rare eyelid disease MONDO:0019161 pseudohypoaldosteronism type 1 biolink:Disease mondo SCTID:43941006|UMLS:C0268436|Orphanet:756|NCIT:C123251|ICD10:N25.8|ICD9:275.8 Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. NCIT:C123251|UMLS:C0268436|SNOMEDCT:43941006|UMLS:C1449843|ORPHA:756 http://purl.obolibrary.org/obo/MONDO_0019161 PHA1B|PHA type 1|pseudohypoaldosteronism type I autosomal recessive ordo_disease MONDO:0020150 obsolete rare palpebral, lacrimal system and conjunctival disease biolink:Disease mondo Orphanet:98559|UMLS:CN207025 ORPHA:98559|UMLS:CN207025 http://purl.obolibrary.org/obo/MONDO_0020150 MONDO:0019164 6q terminal deletion syndrome biolink:Disease mondo SCTID:719666002|UMLS:CN205719|UMLS:C4304514|Orphanet:75857|ICD10:Q93.5 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. UMLS:CN205719|ORPHA:75857|UMLS:C4304514|SNOMEDCT:719666002 http://purl.obolibrary.org/obo/MONDO_0019164 ordo_malformation_syndrome MONDO:0019163 obsolete pseudoxanthoma elasticum biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019163 MONDO:0044141 panic disorder without agoraphobia biolink:Disease mondo NCIT:C97193|EFO:1001906|SCTID:56576003 A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder. SNOMEDCT:56576003|NCIT:C97193 http://purl.obolibrary.org/obo/MONDO_0044141 panic disorder without agoraphobia MONDO:0019160 primary progressive freezing gait biolink:Disease mondo UMLS:C4275078|SCTID:715627004|UMLS:CN205712|Orphanet:75567 Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments. UMLS:CN205712|UMLS:C4275078|ORPHA:75567|SNOMEDCT:715627004 http://purl.obolibrary.org/obo/MONDO_0019160 PPFG ordo_clinical_syndrome MONDO:0020159 congenital entropion biolink:Disease mondo MedDRA:10014923|SCTID:20392000|Orphanet:98568|ICD10:Q10.2 MEDDRA:10014923|UMLS:C0266579|ORPHA:98568|SNOMEDCT:20392000 http://purl.obolibrary.org/obo/MONDO_0020159 ordo_group_of_disorders MONDO:0020158 eyelids malposition disorder biolink:Disease mondo UMLS:CN227803|Orphanet:98567 UMLS:CN227803|ORPHA:98567 http://purl.obolibrary.org/obo/MONDO_0020158 ordo_group_of_disorders MONDO:0020157 syndromic palpebral coloboma biolink:Disease mondo UMLS:CN227802|Orphanet:98566 UMLS:CN227802|ORPHA:98566 http://purl.obolibrary.org/obo/MONDO_0020157 ordo_group_of_disorders MONDO:0020156 syndromic ankyloblepharon biolink:Disease mondo UMLS:CN227801|Orphanet:98565 UMLS:CN227801|ORPHA:98565 http://purl.obolibrary.org/obo/MONDO_0020156 ordo_group_of_disorders MONDO:0020155 eyelid border anomaly biolink:Disease mondo Orphanet:98564 ORPHA:98564 http://purl.obolibrary.org/obo/MONDO_0020155 ordo_group_of_disorders MONDO:0044144 panic disorder with agoraphobia biolink:Disease mondo NCIT:C97194|SCTID:35607004 A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder. NCIT:C97194|SNOMEDCT:35607004 http://purl.obolibrary.org/obo/MONDO_0044144 panic disorder with agoraphobia GO:0042493 response to drug biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. http://purl.obolibrary.org/obo/GO_0042493 drug susceptibility/resistance|drug resistance MONDO:0007199 blepharochalasis, superior biolink:Disease mondo OMIM:110000|UMLS:C1862275|MESH:C566223 UMLS:C1862275|MESH:C566223|http://identifiers.org/omim/110000 http://purl.obolibrary.org/obo/MONDO_0007199 blepharochalasis, superior MONDO:0020154 microblepharon-ablephara syndrome biolink:Disease mondo ICD10:Q10.3|UMLS:CN237783|Orphanet:98563 ORPHA:98563|UMLS:CN237783 http://purl.obolibrary.org/obo/MONDO_0020154 ordo_group_of_disorders MONDO:0007197 bladder diverticulum (disease) biolink:Disease mondo ICD10:N32.3|DOID:11353|MESH:C562406|ICD9:596.3|COHD:195864|HP:0000015|SCTID:197866008|OMIM:109820 http://identifiers.org/omim/109820|DOID:11353|SNOMEDCT:197866008|MESH:C562406 http://purl.obolibrary.org/obo/MONDO_0007197 diverticulum - bladder|diverticulum of bladder|bladder diverticulum MONDO:0020153 cryptophthalmia biolink:Disease mondo NCIT:C124520|SCTID:400951005|Orphanet:98562|ICD9:743.06|GARD:0010505 A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure. SNOMEDCT:400951005|ORPHA:98562|NCIT:C124520 http://purl.obolibrary.org/obo/MONDO_0020153 cryptophthalmos ordo_group_of_disorders MONDO:0020152 rare eyelid malformation biolink:Disease mondo Orphanet:98561 ORPHA:98561 http://purl.obolibrary.org/obo/MONDO_0020152 eyelid malformation ordo_group_of_disorders|obsoletion_candidate MONDO:0007198 Ascher syndrome biolink:Disease mondo ICD10:Q87.0|OMIM:109900|Orphanet:1253|ICD9:374.89|MESH:C562742|GARD:0000201|ICD9:246.8|SCTID:28599006|UMLS:C0339085 Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported. MESH:C562742|SNOMEDCT:28599006|ORPHA:1253|http://identifiers.org/omim/109900|UMLS:C0339085 http://purl.obolibrary.org/obo/MONDO_0007198 Ascher's syndrome|blepharochalasis - double lip|Ascher syndrome|blepharochalasis-double lip syndrome|Double upper lip, blepharochalasis and enlargement of the thyroid|blepharochalasis and double lip|blepharochalasis and DOUBLE LIP|blepharochalasis and Double lip|blepharochalasis and Double type lip gard_rare|ordo_malformation_syndrome MONDO:0007195 bifid nose, autosomal dominant biolink:Disease mondo UMLS:C2751431|OMIM:109740 http://identifiers.org/omim/109740|UMLS:C2751431 http://purl.obolibrary.org/obo/MONDO_0007195 bifid nose, autosomal dominant NCBITaxon:742845 Malasseziaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_742845 MONDO:0007196 obsolete bladder cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007196 MONDO:0007193 primary biliary cholangitis 1 biolink:Disease mondo UMLS:CN029380|OMIM:109720 UMLS:CN029380|http://identifiers.org/omim/109720 http://purl.obolibrary.org/obo/MONDO_0007193 PBC1|biliary cirrhosis, primary, 1; PBC1|Pbc|biliary cirrhosis, primary, 1 MONDO:0007194 familial bicuspid aortic valve biolink:Disease mondo Orphanet:402075|ICD10:Q23.1|DOID:0080332|OMIMPS:109730 Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). DOID:0080332|ORPHA:402075 http://purl.obolibrary.org/obo/MONDO_0007194 aortic valve disease 1|AOVD1|aortic valve disease type 1|familial BAV ordo_morphological_anomaly MONDO:0007191 Behcet disease biolink:Disease mondo OMIM:109650|GARD:0000848|EFO:0003780|DOID:13241|MedDRA:10004213|Orphanet:117|ICD10:M35.2|SCTID:310701003|COHD:436642|ICD9:136.1|UMLS:C0004943|MESH:D001528|NCIT:C34416 Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. UMLS:C0004943|http://identifiers.org/omim/109650|MESH:D001528|ORPHA:117|NCIT:C34416|DOID:13241|MEDDRA:10004213|SNOMEDCT:310701003 http://purl.obolibrary.org/obo/MONDO_0007191 Behçet-Adamantiades syndrome|BD|Behçet syndrome|Behçet disease|Behcet's syndrome|Adamantiades-Behcet disease|Behcet disease|Bechet syndrome|triple symptom complex|Behcet's disease|Behet's syndrome|silk road disease|Behcet syndrome|Behçet's disease|Behçet’s disease|Morbus Behçet's syndrome|Behçet's syndrome ordo_disease MONDO:0007192 AABT biolink:Disease mondo UMLS:C1862289|OMIM:109660 UMLS:C1862289|http://identifiers.org/omim/109660 http://purl.obolibrary.org/obo/MONDO_0007192 AABT|taurine renal reabsorption|BETA-amino acids, renal TRANSPORT OF|BETA-amino acids, renal TRANSPORT OF; AABT MONDO:0020149 rare eye disease due to a differentiation anomaly biolink:Disease mondo UMLS:CN207024|Orphanet:98558 ORPHA:98558|UMLS:CN207024 http://purl.obolibrary.org/obo/MONDO_0020149 obsoletion_candidate|ordo_group_of_disorders MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 biolink:Disease mondo OMIM:109543 http://identifiers.org/omim/109543 http://purl.obolibrary.org/obo/MONDO_0007190 leukemia, chronic lymphocytic, B-cell|Clls2|leukemia, chronic lymphocytic, susceptibility to, type 2|disrupted in B-cell malignancy|B-cell malignancy, low-grade|leukemia, chronic lymphocytic, susceptibility to, 2 predisposition MONDO:0019169 pyruvate dehydrogenase deficiency biolink:Disease mondo ICD10:E74.4|DOID:3649|SCTID:46683007|OMIMPS:312170|NCIT:C103968|ICD9:277.89|GARD:0007513|EFO:0007459|Orphanet:765 Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. DOID:3649|UMLS:C0034345|MESH:D015325|SNOMEDCT:46683007|UMLS:C2936911|MESH:C536257|ORPHA:765|NCIT:C103968 http://purl.obolibrary.org/obo/MONDO_0019169 PDHC|deficiency of pyruvic dehydrogenase|pyruvate decarboxylase deficiency|pyruvate dehydrogenase deficiency|pyruvate dehydrogenase complex deficiency disease|PDH|pyruvate dehydrogenase complex deficiency ordo_disease MONDO:0019166 obsolete strongyloidiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019166 MONDO:0019165 central precocious puberty biolink:Disease mondo UMLS:C0342543|ICD9:259.1|MESH:C562787|Orphanet:759|ICD10:E22.8|OMIMPS:176400|SCTID:237816004 Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). MESH:C562787|SNOMEDCT:237816004|ORPHA:759|UMLS:C0342543 http://purl.obolibrary.org/obo/MONDO_0019165 gonadotropin-dependent precocious puberty|gonadotropin-dependant precocious puberty|CPP|precocious puberty, central ordo_disease MONDO:0019168 pyomyositis biolink:Disease mondo Orphanet:764|EFO:1001409|SCTID:65110003|UMLS:C1704275|ICD10:M60.0|ICD9:040.81|NCIT:C128382|MESH:D052880|UMLS:C0041188|GARD:0004614|MedDRA:10037652|DOID:876 Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation. UMLS:C1704275|MESH:D052880|SNOMEDCT:65110003|MEDDRA:10037652|UMLS:C0041188|NCIT:C128382|DOID:876|ORPHA:764 http://purl.obolibrary.org/obo/MONDO_0019168 PM|myositis purulenta tropica|myositis tropicans|suppurative myositis|tropical pyomyositis ordo_disease|gard_rare MONDO:0019167 immunoglobulin a vasculitis biolink:Disease mondo ICD10:D69.0|Orphanet:761|SCTID:86074002|GARD:0008204 SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. SNOMEDCT:86074002|ORPHA:761 http://purl.obolibrary.org/obo/MONDO_0019167 anaphylactoid purpura|Henoch Schonlein purpura|IgA vasculitis|rheumatoid purpura|vascular purpura|purpura rheumatica|Henoch-SchC6nlein purpura|purpura, Schonlein-Henoch ordo_disease MONDO:0019151 oligocone trichromacy biolink:Disease mondo UMLS:C4302876|SCTID:722066001|Orphanet:75378|UMLS:CN205696 Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision. UMLS:C4302876|SNOMEDCT:722066001|UMLS:CN205696|ORPHA:75378 http://purl.obolibrary.org/obo/MONDO_0019151 Oligocone syndrome ordo_disease BSPO:0000099 posterior_to biolink:OntologyClass mondo x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. http://purl.obolibrary.org/obo/BSPO_0000099 caudal_to MONDO:0020140 late-onset ataxia with dementia biolink:Disease mondo Orphanet:98540 ORPHA:98540 http://purl.obolibrary.org/obo/MONDO_0020140 ordo_group_of_disorders MONDO:0019150 familial isolated restrictive cardiomyopathy biolink:Disease mondo ICD10:I42.5|Orphanet:75249|UMLS:CN205687 Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles. UMLS:CN205687|ORPHA:75249 http://purl.obolibrary.org/obo/MONDO_0019150 familial or idiopathic restrictive cardiomyopathy ordo_disease BSPO:0000098 dorsal_to biolink:OntologyClass mondo x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/BSPO_0000098 MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome biolink:Disease mondo SCTID:717943008|UMLS:C4303545|ICD10:Q87.8|Orphanet:75389 Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay. ORPHA:75389|SNOMEDCT:717943008|UMLS:C4303545 http://purl.obolibrary.org/obo/MONDO_0019153 Goossens-Devriendt syndrome ordo_malformation_syndrome MONDO:0019152 Oguchi disease biolink:Disease mondo Orphanet:75382|ICD10:H53.6|GARD:0010118|MESH:C537743 Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon. UMLS:C1306122|ORPHA:75382|MESH:C537743 http://purl.obolibrary.org/obo/MONDO_0019152 stationary night blindness, Oguchi type|congenital stationary night blindness, Oguchi type|Oguchi syndrome gard_rare|ordo_malformation_syndrome MONDO:0020148 syndromic aniridia biolink:Disease mondo UMLS:CN227798|Orphanet:98557 A aniridia that is part of a larger syndrome. UMLS:CN227798|ORPHA:98557 http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia|syndrome associated with aniridia|syndrome associated with aniridia ordo_group_of_disorders MONDO:0020147 anophthalmia-microphthalmia syndrome biolink:Disease mondo UMLS:CN120488|ICD10:Q11.2|ICD10:Q11.1|ICD10:Q11.0|Orphanet:98555 ORPHA:98555|UMLS:CN120488 http://purl.obolibrary.org/obo/MONDO_0020147 ordo_group_of_disorders MONDO:0007168 atelosteogenesis type III biolink:Disease mondo SCTID:725142004|MESH:C579928|Orphanet:56305|GARD:0010608|OMIM:108721|ICD10:Q78.8 Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. ORPHA:56305|http://identifiers.org/omim/108721|SNOMEDCT:725142004|MESH:C579928 http://purl.obolibrary.org/obo/MONDO_0007168 atelosteogenesis, type III; AO3|AOIII|atelosteogenesis type 3|Aoiii|AO3|atelosteogenesis, type 3|atelosteogenesis, type III ordo_malformation_syndrome MONDO:0020146 major induction processes eye anomaly biolink:Disease mondo Orphanet:98554 ORPHA:98554 http://purl.obolibrary.org/obo/MONDO_0020146 ordo_group_of_disorders MONDO:0007169 ATHS biolink:Disease mondo OMIM:108725 http://identifiers.org/omim/108725 http://purl.obolibrary.org/obo/MONDO_0007169 atherosclerosis susceptibility|ATHS|atherosclerosis susceptibility; ATHS|Atherogenic lipoprotein phenotype MONDO:0020145 developmental defect of the eye biolink:Disease mondo Orphanet:98553 ORPHA:98553 http://purl.obolibrary.org/obo/MONDO_0020145 ordo_group_of_disorders MONDO:0020144 cerebrovascular dementia biolink:Disease mondo Orphanet:98549 ORPHA:98549 http://purl.obolibrary.org/obo/MONDO_0020144 rare cerebrovascular dementia ordo_group_of_disorders MONDO:0007166 ataxia with fasciculations biolink:Disease mondo UMLS:C1862440|OMIM:108700|MESH:C566246 UMLS:C1862440|MESH:C566246|http://identifiers.org/omim/108700 http://purl.obolibrary.org/obo/MONDO_0007166 ataxia with fasciculations MONDO:0007167 atelosteogenesis type I biolink:Disease mondo MESH:C535396|ICD10:Q78.8|OMIM:108720|SCTID:725141006|Orphanet:1190|GARD:0009287 Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. MESH:C535396|ORPHA:1190|UMLS:C0265283|http://identifiers.org/omim/108720|SNOMEDCT:725141006 http://purl.obolibrary.org/obo/MONDO_0007167 atelosteogenesis type 1|AO1|spondylohumerofemoral hypoplasia|AOI|atelosteogenesis, type I; AO1|AO1|spondylo-humero-femoral dysplasia|atelosteogenesis, type I|atelosteogenesis, type 1|giant cell chondrodysplasia ordo_malformation_syndrome MONDO:0020143 cerebral lipidosis with dementia biolink:Disease mondo SCTID:16517004|UMLS:C0007788|ICD9:330.1|Orphanet:98544|DOID:10742|COHD:374906 DOID:10742|ORPHA:98544|SNOMEDCT:16517004|UMLS:C0007788 http://purl.obolibrary.org/obo/MONDO_0020143 cerebral lipidosis ordo_group_of_disorders MONDO:0007164 spastic ataxia 1 biolink:Disease mondo DOID:0050772|UMLS:C1970107|Orphanet:251282|OMIM:108600|ICD10:G11.4|MESH:C566993 Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene. ORPHA:251282|UMLS:C1970107|http://identifiers.org/omim/108600|MESH:C566993|DOID:0050772 http://purl.obolibrary.org/obo/MONDO_0007164 spastic ataxia type 1|autosomal dominant spastic ataxia caused by mutation in VAMP1|SPAX1|autosomal dominant spastic ataxia type 1|spastic ataxia 1, autosomal dominant; SPAX1|VAMP1 autosomal dominant spastic ataxia|spastic ataxia 1, autosomal dominant ordo_disease MONDO:0020142 metabolic disease with dementia biolink:Disease mondo Orphanet:98543|UMLS:CN207023 UMLS:CN207023|ORPHA:98543 http://purl.obolibrary.org/obo/MONDO_0020142 ordo_group_of_disorders MONDO:0007165 spastic ataxia 7 biolink:Disease mondo SCTID:763669001|OMIM:108650|Orphanet:1182|ICD10:G11.4|DOID:0050945|UMLS:C1862441|MESH:C566247 Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. DOID:0050945|SNOMEDCT:763669001|UMLS:C1862441|ORPHA:1182|MESH:C566247|http://identifiers.org/omim/108650 http://purl.obolibrary.org/obo/MONDO_0007165 spastic ataxia 7, autosomal dominant; SPAX7|spastic ataxia type 7|spastic ataxia 7, autosomal dominant|autosomal dominant spastic ataxia type 7|spastic ataxia with congenital miosis|miosis, congenital, with spastic ataxia|SPAX7 ordo_disease MONDO:0020141 obsolete infectious disease with dementia biolink:Disease mondo Orphanet:98542|UMLS:CN207022 ORPHA:98542|UMLS:CN207022 http://purl.obolibrary.org/obo/MONDO_0020141 ordo_group_of_disorders MONDO:0007162 asymmetric short stature syndrome biolink:Disease mondo OMIM:108450|UMLS:C1862458|MESH:C566248 UMLS:C1862458|http://identifiers.org/omim/108450|MESH:C566248 http://purl.obolibrary.org/obo/MONDO_0007162 asymmetric short stature syndrome MONDO:0007163 episodic ataxia type 2 biolink:Disease mondo DOID:0050990|ICD10:G11.8|Orphanet:97|GARD:0009602|MESH:C535506|OMIM:108500|SCTID:420932006|UMLS:C1720416 Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. UMLS:C1720416|ORPHA:97|SNOMEDCT:420932006|http://identifiers.org/omim/108500|DOID:0050990|MESH:C535506 http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia, type 2; EA2|EA2|CACNA1A hereditary episodic ataxia|ataxia, familial, paroxysmal|familial paroxysmal ataxia|cerebellar ataxia, paroxysmal, Acetazolamide-responsive|ataxia, familial paroxysmal|Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|hereditary episodic ataxia caused by mutation in CACNA1A|ataxia, episodic, with Nystagmus|episodic ataxia, Nystagmus-associated|Acetazolamide-responsive episodic ataxia syndrome|CAPA|Nystagmus-associated episodic ataxia|APCA|Cerebellopathy, hereditary paroxysmal|Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia|episodic ataxia, type 2|episodic ataxia type 2|episodic ataxia with nystagmus ordo_disease MONDO:0007160 Stickler syndrome type 1 biolink:Disease mondo MESH:C537492|ICD10:Q87.5|GARD:0005018|Orphanet:90653|OMIM:108300 MESH:C537492|http://identifiers.org/omim/108300|ORPHA:90653 http://purl.obolibrary.org/obo/MONDO_0007160 STL1|Stickler syndrome, type I|Stickler syndrome, type I; STL1|Stickler syndrome, membranous vitreous type|Stickler syndrome, type 1|Stickler syndrome, vitreous type 1|arthroophthalmopathy, hereditary progressive ordo_clinical_subtype MONDO:0007161 SPGF2 biolink:Disease mondo OMIM:108420|DOID:0070164 DOID:0070164|http://identifiers.org/omim/108420 http://purl.obolibrary.org/obo/MONDO_0007161 Aspermiogenesis Factor|spermatogenic failure 2|spermatogenic failure 2; SPGF2|SPGF2 PATO:0000261 maturity biolink:OntologyClass mondo A quality of a single physical entity which is held by a bearer when the latter exhibits a state of growth, differentiation, or development. http://purl.obolibrary.org/obo/PATO_0000261 MONDO:0020139 early-onset ataxia with dementia biolink:Disease mondo Orphanet:98539 ORPHA:98539 http://purl.obolibrary.org/obo/MONDO_0020139 ordo_group_of_disorders MONDO:0020138 ataxia with dementia biolink:Disease mondo Orphanet:98538 ORPHA:98538 http://purl.obolibrary.org/obo/MONDO_0020138 ordo_group_of_disorders MONDO:0019159 Loeffler endocarditis biolink:Disease mondo Orphanet:75566|MedDRA:10052841|NCIT:C27044|DOID:396|SCTID:449829009|ICD10:I42.3 Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma. NCIT:C27044|SNOMEDCT:449829009|ORPHA:75566|DOID:396|UMLS:C0206143|MEDDRA:10052841 http://purl.obolibrary.org/obo/MONDO_0019159 eosinophilic endocarditis|eosinophilic endomyocardial disease ordo_disease MONDO:0019158 tropical endomyocardial fibrosis biolink:Disease mondo Orphanet:75565|SCTID:715626008|ICD10:I42.3|UMLS:C2882252|UMLS:CN205710 Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition. UMLS:C2882252|UMLS:CN205710|SNOMEDCT:715626008|ORPHA:75565 http://purl.obolibrary.org/obo/MONDO_0019158 Davies disease|TEMF ordo_disease MONDO:0019155 Leydig cell hypoplasia biolink:Disease mondo GARD:0003244|ICD10:Q56.1|MedDRA:10024406|Orphanet:755 Leydig cell hypoplasia (LCH) is a condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. MEDDRA:10024406|UMLS:C0860158|ORPHA:755 http://purl.obolibrary.org/obo/MONDO_0019155 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|LH resistance due to LH receptor deactivation|Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|Male hypergonadotropic hypogonadism due to LHCGR defect|46,XY disorder of sex development due to LH defects|Leydig cell agenesis|46,XY DSD due to LH resistance or LHB deficiency|Male pseudohermaphroditism due to LH resistance or LHB deficiency|46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY disorder of sex development due to LH resistance or LHB deficiency ordo_disease|gard_rare MONDO:0019154 androgen insensitivity syndrome biolink:Disease mondo MedDRA:10056292|MESH:D013734|OMIM:300068|SCTID:12313004|ICD10:E34.5|UMLS:C0039585|NCIT:C27226|ICD10:E34.51|COHD:440359|ICD10:E34.50|GARD:0005803|ICD9:259.51|ICD9:259.5|ICD9:259.8|DOID:4674|Orphanet:754 Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). NCIT:C27226|MEDDRA:10056292|SNOMEDCT:12313004|http://identifiers.org/omim/300068|UMLS:C0936016|UMLS:C0039585|MESH:D013734|ORPHA:754|DOID:4674 http://purl.obolibrary.org/obo/MONDO_0019154 AIS|dihydrotestosterone receptor deficiency|Feminisation - testicular|Goldberg - Maxwell syndrome|testicular feminization|androgen-insensitivity syndrome|testicular feminization syndrome (formerly)|Morris syndrome|androgen resistance syndrome|testicular feminization syndrome|androgen insensitivity syndrome; AIS|androgen insensitivity syndrome|Goldberg-Maxwell syndrome|androgen receptor deficiency|AR deficiency|DHTR deficiency ordo_group_of_disorders|gard_rare MONDO:0019157 acquired idiopathic sideroblastic anemia biolink:Disease mondo ICDO:9982/3|Orphanet:75564|NCIT:C4036|SCTID:109998009|ICD9:238.72|EFO:0003812|ICD10:D64.3 Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS. NCIT:C4036|ORPHA:75564|SNOMEDCT:109998009 http://purl.obolibrary.org/obo/MONDO_0019157 MDS-RS|refractory anemia with ringed sideroblasts|myelodysplastic syndrome with Ring sideroblasts|refractory Anemia with ringed sideroblasts|refractory Anemia with Ring sideroblasts|primary acquired sideroblastic anemia|RARS|AISA|Pure sideroblastic Anemia ordo_disease BSPO:0000097 distal_to biolink:OntologyClass mondo x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). http://purl.obolibrary.org/obo/BSPO_0000097 MONDO:0019156 angioosteohypotrophic syndrome biolink:Disease mondo UMLS:CN205707|Orphanet:75508|SCTID:765750001 Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. UMLS:CN205707|ORPHA:75508|SNOMEDCT:765750001 http://purl.obolibrary.org/obo/MONDO_0019156 Phlebectatic osteohypoplastic angiodysplasia|Servelle-Martorell syndrome ordo_malformation_syndrome BSPO:0000096 anterior_to biolink:OntologyClass mondo x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer http://purl.obolibrary.org/obo/BSPO_0000096 MONDO:0019140 acute ackee fruit intoxication biolink:Disease mondo GARD:0009299|ICD10:T62.2|MESH:C537562|SCTID:49434001|Orphanet:73423|ICD9:988.2 Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils. SNOMEDCT:49434001|MESH:C537562|ORPHA:73423 http://purl.obolibrary.org/obo/MONDO_0019140 Jamaican vomiting syndrome|ackee poisoning|acute intoxication by Blighia sapida|Jamaican vomiting sickness ordo_disease MONDO:0022792 coccygodynia biolink:Disease mondo GARD:0005168 Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury. http://purl.obolibrary.org/obo/MONDO_0022792 coccydynia gard_rare MONDO:0019142 inherited porphyria biolink:Disease mondo MedDRA:10061356|ICD10:E80.2|ICD10:E80.1|DOID:13268|MedDRA:10036181|COHD:434908|ICD10:E80.0|SCTID:371628009|ICD10:E80.20|UMLS:C0032708|Orphanet:738|ICD9:277.1|NCIT:C97096|GARD:0010353|MESH:D011164 Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. SNOMEDCT:371628009|NCIT:C97096|MEDDRA:10061356|MEDDRA:10036181|UMLS:C0032708|MESH:D011164|ORPHA:738|DOID:13268 http://purl.obolibrary.org/obo/MONDO_0019142 Porphyrinopathy|Hematoporphyria|disorder of porphyrin and hem metabolism|porphyria|hereditary porphyria|disorder of porphyrin and heme metabolism|disorder of porphyrin metabolism gard_rare|ordo_group_of_disorders MONDO:0022794 chromosome 8 deletion biolink:Disease mondo UMLS:C0265418|NCIT:C36535|GARD:0012070|MESH:C537823 A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8. NCIT:C36535|UMLS:C0265418|MESH:C537823 http://purl.obolibrary.org/obo/MONDO_0022794 chromosome 8 deletion|Deletions of chromosome 8|del(8)|loss of chromosome 8|Anomaly of chromosome pair 8 MONDO:0022795 deficiency of coenzyme q cytochrome c reductase biolink:Disease mondo GARD:0001419 http://purl.obolibrary.org/obo/MONDO_0022795 coenzyme Q cytochrome c reductase deficiency of gard_rare MONDO:0019141 porokeratosis of Mibelli biolink:Disease mondo UMLS:C0949506|ICD10:Q82.8|GARD:0004438|SCTID:80432009|ICD9:757.39|Orphanet:735 Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. SNOMEDCT:80432009|UMLS:C0949506|ORPHA:735 http://purl.obolibrary.org/obo/MONDO_0019141 ordo_disease MONDO:0022798 Cohen lockood wyborney syndrome biolink:Disease mondo GARD:0001423 http://purl.obolibrary.org/obo/MONDO_0022798 gard_rare MONDO:0022799 cold urticaria biolink:Disease mondo GARD:0006131|SCTID:74774004|EFO:1001881|UMLS:C0221207 Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications. SNOMEDCT:74774004|UMLS:C0221207 http://purl.obolibrary.org/obo/MONDO_0022799 primary idiopathic cold urticaria|cold contact urticaria|urticaria idiopathic cold gard_rare MONDO:0020137 frontotemporal degeneration with dementia biolink:Disease mondo Orphanet:98535|ICD10:G31.0 ORPHA:98535 http://purl.obolibrary.org/obo/MONDO_0020137 ordo_group_of_disorders MONDO:0020136 obsolete neurodegenerative disease with dementia biolink:Disease mondo UMLS:CN207020|Orphanet:98534 ORPHA:98534|UMLS:CN207020 http://purl.obolibrary.org/obo/MONDO_0020136 ordo_group_of_disorders MONDO:0020135 pontocerebellar hypoplasia biolink:Disease mondo SCTID:45163000|Orphanet:98523|GARD:0010977|OMIMPS:607596|MESH:C580383|UMLS:CN924922|ICD10:Q04.3|DOID:0060264 Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. UMLS:CN924922|ORPHA:98523|MESH:C580383|DOID:0060264|SNOMEDCT:45163000 http://purl.obolibrary.org/obo/MONDO_0020135 pontoneocerebellar atrophy|pontoneocerebllar hypoplasia|pontocerebellar hypoplasia|isolated pontocerebellar hypoplasia|nonsyndromic pontocerebellar hypoplasia|PCH gard_rare|ordo_group_of_disorders MONDO:0007179 autoimmune disease biolink:Disease mondo COHD:434621|ICD9:279.4|SCTID:85828009|MESH:D001327|EFO:0005140|NCIT:C2889|ICD9:720|ICD9:279.49|OBI:1110054|DOID:417|OMIM:109100|UMLS:C0004364 A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). SNOMEDCT:85828009|UMLS:C0004364|http://identifiers.org/omim/109100|MESH:D001327|NCIT:C2889|DOID:417 http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease|autoimmune disease or disorder|disease, autoimmune|autoimmune hypersensitivity disease|autoimmune disorder|hypersensitivity reaction type II disease MONDO:0020134 cystic malformation of the posterior fossa biolink:Disease mondo SCTID:35111000119109|Orphanet:98520|ICD9:742.4 SNOMEDCT:35111000119109|ORPHA:98520 http://purl.obolibrary.org/obo/MONDO_0020134 ordo_group_of_disorders MONDO:0007177 auriculoosteodysplasia biolink:Disease mondo OMIM:109000|UMLS:C1862381|GARD:0008663|MESH:C538271|Orphanet:114|ICD10:Q87.5 Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. http://identifiers.org/omim/109000|UMLS:C1862381|MESH:C538271|ORPHA:114 http://purl.obolibrary.org/obo/MONDO_0007177 auriculo-osteodysplasia|multiple osseous dysplasia, characteristic ear shape, and short stature|auriculoosteodysplasia gard_rare|ordo_malformation_syndrome MONDO:0020133 posterior fossa malformation biolink:Disease mondo Orphanet:98519 ORPHA:98519 http://purl.obolibrary.org/obo/MONDO_0020133 ordo_group_of_disorders MONDO:0007178 aurocephalosyndactyly biolink:Disease mondo Orphanet:1219|UMLS:C1862380|GARD:0009218|OMIM:109050|MESH:C566235 http://identifiers.org/omim/109050|UMLS:C1862380|ORPHA:1219|MESH:C566235 http://purl.obolibrary.org/obo/MONDO_0007178 Auralcephalosyndactyly|Kurczynski-Casperson syndrome|aurocephalosyndactyly|aural cephalosyndactyly MONDO:0020132 cranial nerve and nuclear aplasia biolink:Disease mondo Orphanet:98518 ORPHA:98518 http://purl.obolibrary.org/obo/MONDO_0020132 ordo_group_of_disorders MONDO:0022790 cleft tongue biolink:Disease mondo GARD:0001395 http://purl.obolibrary.org/obo/MONDO_0022790 cleft tongue syndrome|bifid tongue gard_rare MONDO:0007175 PR interval, variation 1N biolink:Disease mondo OMIM:108980|UMLS:C3152251 UMLS:C3152251|http://identifiers.org/omim/108980 http://purl.obolibrary.org/obo/MONDO_0007175 PR interval, variation type 1N|PR interval, variation IN|Atrioventricular conduction time, variation 1N MONDO:0020131 malformation of the cerebellar hemispheres biolink:Disease mondo Orphanet:98516|ICD10:Q04.3 ORPHA:98516 http://purl.obolibrary.org/obo/MONDO_0020131 ordo_group_of_disorders MONDO:0007176 helicoid peripapillary chorioretinal degeneration biolink:Disease mondo ICD10:H31.2|UMLS:C1862382|OMIM:108985|SCTID:724384008|MESH:C566236|Orphanet:86813 Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. SNOMEDCT:724384008|UMLS:C1862382|MESH:C566236|ORPHA:86813|http://identifiers.org/omim/108985 http://purl.obolibrary.org/obo/MONDO_0007176 peripapillary chorioretinal Degeneration, Icelandic type|SVEINSSON chorioretinal atrophy; SCRA|Sveinsson chorioretinal atrophy|SCRA|atrophia areata|helicoidal peripapillary chorioretinal Degeneration|SVEINSSON chorioretinal atrophy ordo_disease MONDO:0022791 coarse face hypotonia constipation biolink:Disease mondo GARD:0001412 http://purl.obolibrary.org/obo/MONDO_0022791 Sondheimer syndrome gard_rare MONDO:0020130 malformation of the cerebellar vermis biolink:Disease mondo Orphanet:98514 ORPHA:98514 http://purl.obolibrary.org/obo/MONDO_0020130 ordo_group_of_disorders MONDO:0007173 atrial heart septal defect 7 biolink:Disease mondo DOID:0110112|UMLS:C3502353|Orphanet:1479|OMIM:108900|ICD10:Q21.1 Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. UMLS:C3502353|ORPHA:1479|http://identifiers.org/omim/108900|DOID:0110112 http://purl.obolibrary.org/obo/MONDO_0007173 atrial septal defect 7, with or without AV conduction defects|ASD with or without atrioventricular conduction defects|NKX2-5 atrial heart septal defect|ASD with or without atrioventricular conduction defects|atrial heart septal defect type 7|atrial septal defect-atrioventricular conduction defects syndrome|ASD7|atrial septal defect 7 with or without atrioventricular conduction defects; ASD7|atrial heart septal defect caused by mutation in NKX2-5|atrial septal defect 7 with or without atrioventricular conduction defects ordo_malformation_syndrome MONDO:0007174 Lown-Ganong-Levine syndrome biolink:Disease mondo Orphanet:844|UMLS:C0024054|ICD9:426.81|COHD:437892|SCTID:55475008|MedDRA:10024984|DOID:13087|OMIM:108950|MESH:D008151|UMLS:C1862387|ICD10:I45.6 Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia). UMLS:C1862387|SNOMEDCT:55475008|MEDDRA:10024984|MESH:D008151|DOID:13087|http://identifiers.org/omim/108950|UMLS:C0024054|ORPHA:844 http://purl.obolibrary.org/obo/MONDO_0007174 syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias|Lown-Ganong-Levine syndrome|atrial tachyarrhythmia with short PR interval|LGL syndrome ordo_disease MONDO:0007171 atrial standstill 1 biolink:Disease mondo OMIM:108770 Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene. http://identifiers.org/omim/108770 http://purl.obolibrary.org/obo/MONDO_0007171 atrial cardiomyopathy with heart block|atrial standstill type 1|atrial standstill caused by mutation in GJA5|atrial standstill 1; ATRST1|ATRST1|GJA5 atrial standstill|cardiomyopathy, familial, with conduction disturbance|atrial standstill 1 MONDO:0007172 atrial heart septal defect 1 biolink:Disease mondo UMLS:C1862389|OMIM:108800|ICD10:Q21.1|DOID:0110106 An atrial heart septal defect type 1 associated with variation in the region 5p. UMLS:C1862389|http://identifiers.org/omim/108800|DOID:0110106 http://purl.obolibrary.org/obo/MONDO_0007172 ASD 2|ASD 1|atrial septal defect, primum type|ASD1|atrial septal defect 1|atrial septal defect, secundum type|atrial heart septal defect type 1|atrial septal defect 1; ASD1 MONDO:0020129 acquired motor neuron disease biolink:Disease mondo Orphanet:98506|UMLS:CN207019 An instance of motor neuron disease that is acquired during the lifetime of the individual. UMLS:CN207019|ORPHA:98506 http://purl.obolibrary.org/obo/MONDO_0020129 acquired motor neuron disease|acquired anterior horn cell disease ordo_group_of_disorders MONDO:0007170 atresia of external auditory canal and conductive deafness biolink:Disease mondo UMLS:C3276095|OMIM:108760 http://identifiers.org/omim/108760|UMLS:C3276095 http://purl.obolibrary.org/obo/MONDO_0007170 atresia of external auditory canal and conductive deafness MONDO:0020128 motor neuron disease biolink:Disease mondo EFO:0003782|ICD10:G12.20|ICD9:335.2|DOID:231|SCTID:37340000|MESH:D016472|ICD9:335.9|ICD10:G12.2|COHD:374631|Orphanet:98503|ICD9:335.8|MedDRA:10028003 A disease involving the motor neuron. MESH:D016472|UMLS:C0085084|SNOMEDCT:37340000|DOID:231|ORPHA:98503|MEDDRA:10028003 http://purl.obolibrary.org/obo/MONDO_0020128 motor neuron disease|motor neuron disease or disorder|disorder of motor neuron|disease of motor neuron|disease or disorder of motor neuron|disorder of motor neuron|anterior horn cell disease ordo_group_of_disorders MONDO:0020127 genetic peripheral neuropathy biolink:Disease mondo Orphanet:98497 Genetic peripheral neuropathy. ORPHA:98497 http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy ordo_group_of_disorders|clingen MONDO:0019148 Wolman disease biolink:Disease mondo UMLS:C0043208|NCIT:C61271|MESH:D015223|Orphanet:75233|MedDRA:10053687|SCTID:82500001|DOID:14497|ICD10:E75.5|GARD:0007899|SCTID:238074007|UMLS:CN438428 Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. DOID:14497|NCIT:C61271|SNOMEDCT:82500001|MESH:D015223|ORPHA:75233|UMLS:CN438428|UMLS:C0043208|MEDDRA:10053687 http://purl.obolibrary.org/obo/MONDO_0019148 primary familial xanthomatosis|familial visceral xanthomatosis|lysosomal acid lipase deficiency|acid esterase deficiency|acid lipase deficiency|Wolman xanthomatosis|Wolman's or triglyceride storage type III disease|primary familial xanthomatosis with adrenal calcification|deficiency of cholesterol esterase and triacylglycerol lipase|Wolman's disease|liposomal acid lipase deficiency, Wolman type|Wolman disease|xanthomatosis, familial|familial xanthomatosis ordo_clinical_subtype MONDO:0019147 myiasis biolink:Disease mondo ICD10:B87|DOID:11080|MedDRA:10028586|ICD10:B87.8|ICD9:134.0|EFO:0007389|MESH:D009198|Orphanet:75110|ICD10:B87.4|ICD10:B87.3|ICD10:B87.2|ICD10:B87.1|ICD10:B87.0|UMLS:C0027030|ICD10:B87.9|SCTID:60412004|NCIT:C128400 The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. NCIT:C128400|SNOMEDCT:60412004|MEDDRA:10028586|DOID:11080|ORPHA:75110|UMLS:C0027030|MESH:D009198 http://purl.obolibrary.org/obo/MONDO_0019147 myiasis, unspecified|maggot infestation|infestation by maggots|infestation by fly larvae ordo_group_of_disorders MONDO:0019149 cholesteryl ester storage disease biolink:Disease mondo SCTID:57218003|GARD:0012099|ICD10:E75.5|UMLS:C0008384|Orphanet:75234|DOID:14502 Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption. UMLS:C0008384|SNOMEDCT:57218003|DOID:14502|ORPHA:75234 http://purl.obolibrary.org/obo/MONDO_0019149 cholesterol ester storage disease|CESD ordo_clinical_subtype MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency biolink:Disease mondo Orphanet:743|ICD10:D68.5 Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S. ORPHA:743 http://purl.obolibrary.org/obo/MONDO_0019144 autosomal recessive thrombophilia due to congenital protein S deficiency|severe hereditary thrombophilia due to congenital protein S deficiency ordo_disease MONDO:0019143 angiostrongyliasis biolink:Disease mondo SCTID:61750000|DOID:0050256|GARD:0000683|UMLS:C0392662|MedDRA:10069517|Orphanet:74|NCIT:C128394|MESH:C536369|ICD9:128.8|ICD10:B83.2|ICD10:B81.3 A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur. MEDDRA:10069517|ORPHA:74|UMLS:C0392662|SNOMEDCT:61750000|DOID:0050256|NCIT:C128394|MESH:C536369 http://purl.obolibrary.org/obo/MONDO_0019143 ordo_disease|gard_rare MONDO:0019146 inherited susceptibility to mycobacterial diseases biolink:Disease mondo GARD:0012977|ICD10:D84.8|UMLS:CN181681|Orphanet:748|UMLS:C3266863 Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized. ORPHA:748|UMLS:C3266863|UMLS:CN181681 http://purl.obolibrary.org/obo/MONDO_0019146 MSMD|Mendelian susceptibility to mycobacterial infections|Mendelian susceptibility to atypical mycobacteria|Mycobacterium genetic susceptibility to infections due to particular pathogens|idiopathic infection caused by BCG or atypical mycobacteria|Mycobacterium caused genetic susceptibility to infections due to particular pathogens ordo_group_of_disorders|predisposition MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency biolink:Disease mondo ICD10:D68.2|NCIT:C99025|SCTID:76407009|MESH:D020151|ICD10:D68.59|DOID:3756|MESH:C535424|Orphanet:745 Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. ORPHA:745|SNOMEDCT:76407009|NCIT:C99025|MESH:C535424|DOID:3756|MESH:D020151 http://purl.obolibrary.org/obo/MONDO_0019145 autosomal recessive thrombophilia due to PC deficiency|severe hereditary thrombophilia due to congenital protein C deficiency|Protein C deficiency|Protein C deficiency disease|autosomal recessive thrombophilia due to congenital protein C deficiency|hereditary thrombophilia due to PC deficiency|protein C deficiency ordo_disease RO:0002490 existence overlaps biolink:OntologyClass mondo x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) http://purl.obolibrary.org/obo/RO_0002490 GO:0005499 vitamin D binding biolink:OntologyClass mondo Interacting selectively and non-covalently with vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). http://purl.obolibrary.org/obo/GO_0005499 ergocalciferol binding|cholecalciferol binding|calciferol binding RO:0002495 immediate transformation of biolink:OntologyClass mondo x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t http://purl.obolibrary.org/obo/RO_0002495 direct_transformation_of|immediately transforms from GO:0005497 androgen binding biolink:OntologyClass mondo Interacting selectively and non-covalently with any androgen, male sex hormones. http://purl.obolibrary.org/obo/GO_0005497 RO:0002496 existence starts during or after biolink:OntologyClass mondo x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). http://purl.obolibrary.org/obo/RO_0002496 RO:0002497 existence ends during or before biolink:OntologyClass mondo x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. http://purl.obolibrary.org/obo/RO_0002497 GO:0005496 steroid binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. http://purl.obolibrary.org/obo/GO_0005496 RO:0002491 existence starts and ends during biolink:OntologyClass mondo x existence starts and ends during y if and only if the start of x is part of y and the end of x is part of y. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) http://purl.obolibrary.org/obo/RO_0002491 RO:0002492 existence ends during biolink:OntologyClass mondo x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y). http://purl.obolibrary.org/obo/RO_0002492 ceases_to_exist_during RO:0002493 existence ends with biolink:OntologyClass mondo Relation between continuant and occurrent, such that c ceases to exist at the end of p. http://purl.obolibrary.org/obo/RO_0002493 RO:0002494 transformation of biolink:OntologyClass mondo x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships http://purl.obolibrary.org/obo/RO_0002494 transforms from HGNC:29284 DIP2B biolink:OntologyClass mondo http://identifiers.org/hgnc/29284 RO:0002488 existence starts during biolink:OntologyClass mondo Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. http://purl.obolibrary.org/obo/RO_0002488 begins_to_exist_during RO:0002489 existence starts with biolink:OntologyClass mondo x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y). http://purl.obolibrary.org/obo/RO_0002489 MONDO:0020195 excretory apparatus of the lacrimal system anomaly biolink:Disease mondo Orphanet:98605 ORPHA:98605 http://purl.obolibrary.org/obo/MONDO_0020195 ordo_group_of_disorders MONDO:0020194 congenital alacrima biolink:Disease mondo Orphanet:98604 ORPHA:98604 http://purl.obolibrary.org/obo/MONDO_0020194 ordo_group_of_disorders MONDO:0020193 secretory apparatus of the lacrimal system anomaly biolink:Disease mondo Orphanet:98603 ORPHA:98603 http://purl.obolibrary.org/obo/MONDO_0020193 disease of lacrimal gland|disorder of lacrimal gland|lacrimal gland disease ordo_group_of_disorders MONDO:0020192 obsolete rare lacrimal system disease biolink:Disease mondo Orphanet:98602 Any of the forms of lacrimal apparatus disease that have a rare incidence. ORPHA:98602 http://purl.obolibrary.org/obo/MONDO_0020192 rare lacrimal apparatus disease obsoletion_candidate|ordo_group_of_disorders GO:0030449 regulation of complement activation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of complement activation. http://purl.obolibrary.org/obo/GO_0030449 regulation of complement cascade MONDO:0020191 obsolete eyebrow/eyelashes pigmentation anomaly biolink:Disease mondo Orphanet:98601 ORPHA:98601 http://purl.obolibrary.org/obo/MONDO_0020191 ordo_group_of_disorders MONDO:0020190 obsolete eyebrow/eyelashes distichiasis biolink:Disease mondo Orphanet:98600 ORPHA:98600 http://purl.obolibrary.org/obo/MONDO_0020190 ordo_group_of_disorders RO:0002485 receives input from biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002485 RO:0002486 sends output to biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002486 RO:0002487 relation between physical entity and a process or stage biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002487 MONDO:0020199 obsolete conjunctival vascular anomaly biolink:Disease mondo Orphanet:98611 ORPHA:98611 http://purl.obolibrary.org/obo/MONDO_0020199 HGNC:29298 CEP152 biolink:OntologyClass mondo http://identifiers.org/hgnc/29298 MONDO:0020198 obsolete rare conjunctival disease biolink:Disease mondo Orphanet:98610 Rare conjunctival disease. ORPHA:98610 http://purl.obolibrary.org/obo/MONDO_0020198 rare conjunctival disease RO:0002481 is kinase activity biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002481 MONDO:0020197 EEC syndrome and related syndrome biolink:Disease mondo UMLS:CN207046|Orphanet:98609 UMLS:CN207046|ORPHA:98609 http://purl.obolibrary.org/obo/MONDO_0020197 ordo_group_of_disorders MONDO:0044101 pregnancy, cornual biolink:Disease mondo MESH:D065173|SCTID:87605005|NCIT:C92761 An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus. SNOMEDCT:87605005|NCIT:C92761|MESH:D065173 http://purl.obolibrary.org/obo/MONDO_0044101 cornual pregnancy|ectopic pregnancy of uterine horn|Pregnancies, cornual|uterine horn ectopic pregnancy|cornual Pregnancies|rudimentary horn pregnancy MONDO:0020196 anomaly of the secretory and excretory apparatus of the lacrimal system biolink:Disease mondo Orphanet:98608 ORPHA:98608 http://purl.obolibrary.org/obo/MONDO_0020196 ordo_group_of_disorders RO:0002479 has part that occurs in biolink:OntologyClass mondo p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. http://purl.obolibrary.org/obo/RO_0002479 MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome biolink:Disease mondo Orphanet:79091|GARD:0009494|ICD10:G71.8|UMLS:CN205775|SCTID:724349009 Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive. SNOMEDCT:724349009|ORPHA:79091|UMLS:CN205775 http://purl.obolibrary.org/obo/MONDO_0019195 Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|HIBM3|HIBM3|Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia|inclusion body myopathy type 3|Hereditary inclusion body myopathy type 3|Inclusion body myopathy autosomal dominant|IBM3|IBM3|hereditary inclusion body myopathy type 3 ordo_disease MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly biolink:Disease mondo UMLS:CN227808|Orphanet:98594 UMLS:CN227808|ORPHA:98594 http://purl.obolibrary.org/obo/MONDO_0020184 ordo_group_of_disorders MONDO:0019194 localized lipodystrophy biolink:Disease mondo ICD10:E88.1|GARD:0005867|NCIT:C131814|UMLS:CN227583|UMLS:C4329999|Orphanet:79088 Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body. UMLS:CN227583|UMLS:C4329999|ORPHA:79088|NCIT:C131814 http://purl.obolibrary.org/obo/MONDO_0019194 centrifugal lipodystrophy (subtype)|focal lipodystrophy|pressure-induced localized lipoatrophy (subtype)|idiopathic localized lipodystrophy (subtype)|drug-induced localized lipodystrophy (subtype)|panniculitis and localized lipodystrophy (subtype) gard_rare|ordo_group_of_disorders MONDO:0020183 neurogenic palpebral tumor biolink:Disease mondo Orphanet:98593|UMLS:CN207043 UMLS:CN207043|ORPHA:98593 http://purl.obolibrary.org/obo/MONDO_0020183 ordo_disease HGNC:17282 RIMS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17282 MONDO:0019197 folinic acid-responsive seizures biolink:Disease mondo Orphanet:79097|SCTID:717276003|UMLS:CN205780|ICD10:G40.3 Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. SNOMEDCT:717276003|ORPHA:79097|UMLS:CN205780 http://purl.obolibrary.org/obo/MONDO_0019197 Folinic acid responsive seizures ordo_disease MONDO:0020182 palpebral tumor with a vascular malformation biolink:Disease mondo Orphanet:98592|UMLS:CN207042 ORPHA:98592|UMLS:CN207042 http://purl.obolibrary.org/obo/MONDO_0020182 ordo_group_of_disorders MONDO:0019196 Foix-Alajouanine syndrome biolink:Disease mondo SCTID:230379007|UMLS:CN205776|Orphanet:79093|ICD9:323.9|ICD10:G37.4 Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years. SNOMEDCT:230379007|ORPHA:79093|UMLS:CN205776 http://purl.obolibrary.org/obo/MONDO_0019196 angiodysgenetic necrotizing myelopathy|Subacute ascending necrotizing myelitis|familial osteosclerosis with abnormalities of the nervous system and meninges|Subacute necrotizing myelitis|Subacute angiohypertrophic myelomalacia ordo_malformation_syndrome MONDO:0020181 mesenchymatous palpebral tumor biolink:Disease mondo Orphanet:98591|UMLS:CN207041 UMLS:CN207041|ORPHA:98591 http://purl.obolibrary.org/obo/MONDO_0020181 ordo_group_of_disorders HGNC:17284 POT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17284 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis biolink:Disease mondo SCTID:7826003|ICD10:K11.8|MESH:D008882|DOID:12900|UMLS:C0026103|MedDRA:10052317|NCIT:C34819|MedDRA:10051457|Orphanet:79078|GARD:0007043 IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis. UMLS:C0026103|MEDDRA:10052317|MEDDRA:10051457|NCIT:C34819|ORPHA:79078|MESH:D008882|DOID:12900|SNOMEDCT:7826003 http://purl.obolibrary.org/obo/MONDO_0019191 Mikulicz's disease (former)|Mikulicz's disease|Mikulicz disease (former)|Mikulicz syndrome (former)|Mikulicz disease|chronic dacryoadenitis and sialadenitis ordo_disease|gard_rare MONDO:0020180 palpebral piliary tumor biolink:Disease mondo Orphanet:98590|UMLS:CN207040 ORPHA:98590|UMLS:CN207040 http://purl.obolibrary.org/obo/MONDO_0020180 ordo_group_of_disorders MONDO:0019190 juvenile polyposis of infancy biolink:Disease mondo UMLS:CN205768|ICD10:D12.6|Orphanet:79076 Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. ORPHA:79076|UMLS:CN205768 http://purl.obolibrary.org/obo/MONDO_0019190 infantile onset juvenile polyposis syndrome|juvenile polyposis syndrome of infancy|infantile juvenile polyposis syndrome ordo_clinical_subtype MONDO:0019193 acquired generalized lipodystrophy biolink:Disease mondo GARD:0012603|Orphanet:79086|DOID:0080300|SCTID:86907008|UMLS:C0271693|ICD10:E88.1|NCIT:C131089 Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles). UMLS:C0271693|DOID:0080300|NCIT:C131089|ORPHA:79086|SNOMEDCT:86907008 http://purl.obolibrary.org/obo/MONDO_0019193 acquired generalized lipodystrophy|Lawrence syndrome|Lawrence-Seip syndrome|acquired lipoatrophic diabetes ordo_disease|gard_rare MONDO:0019192 AKT2-related familial partial lipodystrophy biolink:Disease mondo Orphanet:79085|UMLS:CN536246|UMLS:CN205772|ICD10:E88.1|GARD:0012599 ORPHA:79085|UMLS:CN536246|UMLS:CN205772 http://purl.obolibrary.org/obo/MONDO_0019192 AKT2-related FPLD|familial partial lipodystrophy due to AKT2 mutations ordo_disease RO:0002473 composed primarily of biolink:OntologyClass mondo x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y. http://purl.obolibrary.org/obo/RO_0002473 MONDO:0020189 obsolete eyebrow/eyelashes structural anomaly biolink:Disease mondo Orphanet:98599 ORPHA:98599 http://purl.obolibrary.org/obo/MONDO_0020189 ordo_group_of_disorders MONDO:0020188 obsolete congenital absence of the eyebrow/eyelashes biolink:Disease mondo Orphanet:98598 ORPHA:98598 http://purl.obolibrary.org/obo/MONDO_0020188 ordo_group_of_disorders MONDO:0020187 obsolete eyelashes hypertrophy biolink:Disease mondo Orphanet:98597 ORPHA:98597 http://purl.obolibrary.org/obo/MONDO_0020187 eyelashes trichomegalia|eyelashes polytrichia ordo_group_of_disorders MONDO:0020186 obsolete eyebrow hypertrophy biolink:Disease mondo Orphanet:98596 ORPHA:98596 http://purl.obolibrary.org/obo/MONDO_0020186 ordo_group_of_disorders MONDO:0044113 bullous systemic lupus erythematosus biolink:Disease mondo UMLS:C0409977|EFO:0008619|SCTID:239889005|NCIT:C117104|Orphanet:46489 A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. UMLS:C0409977|ORPHA:46489|SNOMEDCT:239889005|NCIT:C117104 http://purl.obolibrary.org/obo/MONDO_0044113 bullous systemic lupus erythematosus|BSLE MONDO:0020185 obsolete eyebrow/eyelashes hypertrichosis biolink:Disease mondo ICD10:L68.2|Orphanet:98595 ORPHA:98595 http://purl.obolibrary.org/obo/MONDO_0020185 ordo_group_of_disorders HGNC:30262 PYCR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30262 HGNC:29262 IFT80 biolink:OntologyClass mondo http://identifiers.org/hgnc/29262 HGNC:30260 PNPO biolink:OntologyClass mondo http://identifiers.org/hgnc/30260 GO:0030431 sleep biolink:OntologyClass mondo Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. http://purl.obolibrary.org/obo/GO_0030431 diapause|dormancy|lethargus MONDO:0019199 interstitial granulomatous dermatitis with arthritis biolink:Disease mondo Orphanet:79099|UMLS:CN205782 Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes. ORPHA:79099|UMLS:CN205782 http://purl.obolibrary.org/obo/MONDO_0019199 IGDA|Ackerman dermatitis syndrome ordo_disease MONDO:0019198 sympathetic ophthalmia biolink:Disease mondo DOID:12029|EFO:1001205|Orphanet:79098|MedDRA:10042742|MESH:D009879|ICD9:360.11|UMLS:C0029077|SCTID:75315001|ICD10:H44.13|ICD10:H44.1 Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye. MEDDRA:10042742|MESH:D009879|ORPHA:79098|DOID:12029|SNOMEDCT:75315001|UMLS:C0029077 http://purl.obolibrary.org/obo/MONDO_0019198 sympathetic ophthalmia|sympathetic uveitis ordo_disease HGNC:17288 APOA5 biolink:OntologyClass mondo http://identifiers.org/hgnc/17288 MONDO:0020173 benign tumor of palpebral epidermis biolink:Disease mondo UMLS:CN207034|Orphanet:98582 A benign neoplasm that involves the skin of eyelid. UMLS:CN207034|ORPHA:98582 http://purl.obolibrary.org/obo/MONDO_0020173 skin of eyelid benign neoplasm ordo_group_of_disorders MONDO:0019184 obsolete ankylostomiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019184 MONDO:0020172 palpebral epidermal tumor biolink:Disease mondo UMLS:CN207033|Orphanet:98581|SCTID:126499002 A neoplasm (disease) that involves the skin of eyelid. ORPHA:98581|UMLS:CN207033|SNOMEDCT:126499002 http://purl.obolibrary.org/obo/MONDO_0020172 neoplasm of skin of eyelid|skin of eyelid tumor|skin of eyelid neoplasm|tumor of skin of eyelid|skin of eyelid neoplasm (disease) ordo_group_of_disorders MONDO:0019183 inherited odontologic disease biolink:Disease mondo UMLS:CN205756|Orphanet:77830 UMLS:CN205756|ORPHA:77830 http://purl.obolibrary.org/obo/MONDO_0019183 obsoletion_candidate|ordo_group_of_disorders MONDO:0019186 Q fever biolink:Disease mondo Orphanet:781|MESH:D011778|MedDRA:10037688|MedDRA:10037731|UMLS:C0034362|ICD9:083.0|NCIT:C34970|GARD:0007515|EFO:0005224|COHD:434567|SCTID:186788009|DOID:11100|ICD10:A78 A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. MEDDRA:10037688|MEDDRA:10037731|SNOMEDCT:186788009|ORPHA:781|NCIT:C34970|MESH:D011778|DOID:11100|UMLS:C0034362 http://purl.obolibrary.org/obo/MONDO_0019186 Q fever pneumonia|Coxiella burnetii fever|quadrilateral fever|query fever|Coxiella burnetii infectious disease|Coxiella burnetii caused disease or disorder|infection due to Coxiella burnetii|Coxiella burnetii disease or disorder|nine Mile fever|Coxiellosis gard_rare|ordo_disease HGNC:17296 RRM2B biolink:OntologyClass mondo http://identifiers.org/hgnc/17296 MONDO:0020171 obsolete palpebral tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020171 MONDO:0020170 obsolete congenital upper palpebral retraction biolink:Disease mondo ICD10:H02.5|Orphanet:98579 ORPHA:98579 http://purl.obolibrary.org/obo/MONDO_0020170 MONDO:0019185 obsolete rhabdomyosarcoma (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019185 MONDO:0019180 hereditary hemorrhagic telangiectasia biolink:Disease mondo OMIMPS:187300|GARD:0006626|COHD:313504|MESH:D013683|SCTID:21877004|MedDRA:10019883|NCIT:C35064|ICD10:I78.0|Orphanet:774|DOID:1270|ICD9:448.0|UMLS:C0039445 Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. NCIT:C35064|UMLS:C0039445|MEDDRA:10019883|MESH:D013683|SNOMEDCT:21877004|ORPHA:774|DOID:1270 http://purl.obolibrary.org/obo/MONDO_0019180 Rendu-Osler disease|Rendu-Osler-Weber disease|HHT|Osler hemorrhagic telangiectasia syndrome|Osler-Weber-Rendu disease|telangiectasia, hereditary hemorrhagic|telangiectasia, hereditary Hemorrahagic, of Rendu, Osler ordo_disease GO:0030424 axon biolink:OntologyClass mondo The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. http://purl.obolibrary.org/obo/GO_0030424 MONDO:0019182 monogenic obesity biolink:Disease mondo Orphanet:77828|OMIM:601665|ICD10:E66.8 http://identifiers.org/omim/601665|ORPHA:77828 http://purl.obolibrary.org/obo/MONDO_0019182 genetic obesity (disease)|genetic obesity ordo_group_of_disorders GO:0005488 binding biolink:OntologyClass mondo The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/GO_0005488 ligand MONDO:0019181 non-syndromic X-linked intellectual disability biolink:Disease mondo Orphanet:777|UMLS:C3501611|DOID:0050776|GARD:0003542|OMIMPS:309530|MESH:C564490|DC:0000656 Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX. UMLS:C3501611|ORPHA:777|DOID:0050776|MESH:C564490 http://purl.obolibrary.org/obo/MONDO_0019181 intellectual disability, X-linked, nonsyndromic|non-specific X-linked mental retardation|non-specific X-linked intellectual disability|X-linked non-syndromic intellectual disability|non-syndromic intellectual disability, X-linked|mental retardation, X-linked, nonsyndromic|isolated X-linked intellectual disability|X-linked non-specific intellectual disability|nonsyndromic X-linked intellectual disability|mental retardation, nonsyndromic, X-linked|intellectual disability, nonsyndromic, X-linked|X-linked non-syndromic intellectual disability clingen|ordo_etiological_subtype MONDO:0020179 palpebral nevus biolink:Disease mondo UMLS:C0239460|NCIT:C3880|Orphanet:98588|SCTID:231827008 A melanocytic nevus that involves the skin of eyelid. NCIT:C3880|ORPHA:98588|SNOMEDCT:231827008|UMLS:C0239460 http://purl.obolibrary.org/obo/MONDO_0020179 eyelid Nevus|melanocytic nevus of skin of eyelid|Nevus of eyelid|skin of eyelid melanocytic nevus|Nevus of the eyelid ordo_group_of_disorders RO:0002464 helper property (not for use in curation) biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002464 MONDO:0020178 palpebral lentiginosis biolink:Disease mondo Orphanet:98587 A lentigo that involves the skin of eyelid. ORPHA:98587 http://purl.obolibrary.org/obo/MONDO_0020178 skin of eyelid lentigo ordo_group_of_disorders MONDO:0020177 pigmented palpebral tumor biolink:Disease mondo UMLS:CN207037|Orphanet:98586 ORPHA:98586|UMLS:CN207037 http://purl.obolibrary.org/obo/MONDO_0020177 pigmented eyelid tumor|pigmented palpebral neoplasm ordo_group_of_disorders MONDO:0020176 palpebral sebaceous gland tumor biolink:Disease mondo Orphanet:98585|UMLS:CN207036 A neoplasm (disease) that involves the sebaceous gland of eyelid. ORPHA:98585|UMLS:CN207036 http://purl.obolibrary.org/obo/MONDO_0020176 neoplasm of sebaceous gland of eyelid|sebaceous gland of eyelid neoplasm|sebaceous gland of eyelid tumor|sebaceous gland of eyelid neoplasm (disease)|tumor of sebaceous gland of eyelid ordo_group_of_disorders HGNC:29277 ZNF687 biolink:OntologyClass mondo http://identifiers.org/hgnc/29277 MONDO:0020175 malignant tumor of palpebral epidermis biolink:Disease mondo UMLS:CN207035|Orphanet:98584|SCTID:423425006 A cancer that involves the skin of eyelid. ORPHA:98584|UMLS:CN207035|SNOMEDCT:423425006 http://purl.obolibrary.org/obo/MONDO_0020175 cancer of skin of eyelid|skin of eyelid cancer|malignant neoplasm of skin of eyelid|malignant skin of eyelid neoplasm ordo_group_of_disorders MONDO:0020174 precancerous lesion of palpebral epidermis biolink:Disease mondo Orphanet:98583 A precancerous condition that involves the skin of eyelid. ORPHA:98583 http://purl.obolibrary.org/obo/MONDO_0020174 skin of eyelid precancerous condition ordo_group_of_disorders GO:0030421 defecation biolink:OntologyClass mondo The expulsion of feces from the rectum. http://purl.obolibrary.org/obo/GO_0030421 MONDO:0019188 Rubinstein-Taybi syndrome biolink:Disease mondo SCTID:45582004|DOID:1933|UMLS:C0035934|MedDRA:10039281|OMIMPS:180849|Orphanet:783|MESH:D012415|ICD10:Q87.2|NCIT:C75466|ICD9:759.89|GARD:0007593 Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. SNOMEDCT:45582004|DOID:1933|MESH:D012415|NCIT:C75466|ORPHA:783|UMLS:C0035934|MEDDRA:10039281 http://purl.obolibrary.org/obo/MONDO_0019188 Broad thumb-hallux syndrome|Rubinstein syndrome|RSTS|Broad thumbs-halluces syndrome|proximal chromosome 16p13.3 deletion syndrome ordo_malformation_syndrome MONDO:0019187 Axenfeld-Rieger syndrome biolink:Disease mondo DOID:14686|ICD10:Q13.8|NCIT:C131001|Orphanet:782|UMLS:CN776842|SCTID:47507006|MESH:C535679|GARD:0005701|MedDRA:10059255|ICD9:743.44|UMLS:C3495488|OMIMPS:180500|ICD10:Q13.81 Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. SNOMEDCT:47507006|UMLS:C3495488|UMLS:C0265341|MEDDRA:10059255|DOID:14686|NCIT:C131001|ORPHA:782|MESH:C535679|UMLS:CN776842 http://purl.obolibrary.org/obo/MONDO_0019187 Axenfeld syndrome|anomaly, Rieger's|iridogoniodysgenesis with somatic anomalies|Axenfeldt-Rieger syndrome|Hagedoom syndrome|Rieger syndrome|goniodysgenesis hypodontia|RGS - Rieger syndrome|Rieger's anomaly ordo_malformation_syndrome|gard_rare MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism biolink:Disease mondo UMLS:C0342666|ICD9:270.8|SCTID:237911005|Orphanet:79062 SNOMEDCT:237911005|ORPHA:79062|UMLS:C0342666 http://purl.obolibrary.org/obo/MONDO_0019189 disorder of amino acid and organic acid metabolism|disorder of amino acid and other organic acid metabolism ordo_group_of_disorders MONDO:0022740 Christian Johnson angenieta syndrome biolink:Disease mondo GARD:0001316 http://purl.obolibrary.org/obo/MONDO_0022740 gard_rare MONDO:0007108 anal canal carcinoma biolink:Disease mondo Orphanet:424013|NCIT:C7489|SCTID:285310000|DOID:6126|OMIM:105580 A carcinoma that arises from epithelial cells of the anal canal DOID:6126|SNOMEDCT:285310000|ORPHA:424013|NCIT:C7489|http://identifiers.org/omim/105580 http://purl.obolibrary.org/obo/MONDO_0007108 anal canal cancer|anal canal carcinoma|obsolete carcinoma of the anal canal|carcinoma of anal canal|anal canal and perianal gland carcinoma|cloacogenic carcinoma|anal canal and perianal gland cancer|carcinoma of the anal canal ordo_group_of_disorders HP:0100640 Laryngeal cyst biolink:PhenotypicFeature mondo UMLS:C0339880|SNOMEDCT_US:195867000 Presence of a cyst (sac-like structure) located in the larynx. http://purl.obolibrary.org/obo/HP_0100640 MONDO:0007109 congenital dyserythropoietic anemia type 3 biolink:Disease mondo ICD9:285.8|GARD:0002002|OMIM:105600|SCTID:26409005|Orphanet:98870|ICD10:D64.4|UMLS:C0271934 Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia. SNOMEDCT:26409005|UMLS:C0271934|ORPHA:98870|http://identifiers.org/omim/105600 http://purl.obolibrary.org/obo/MONDO_0007109 Erythroreticulosis, hereditary benign|CDA 3|dyserythropoietic Anemia, congenital, type 3|dyserythropoietic anemia, congenital type 3|CDA type III|anemia, congenital dyserythropoietic, type III; CDAN3|anemia with multinucleated erythroblasts|CDA type 3|anemia, congenital dyserythropoietic, type III|CDAN3|CDA III|congenital dyserythropoietic anemia type 3 ordo_disease MONDO:0022742 occupational asthma biolink:Disease mondo UMLS:C0264423|SCTID:57607007|MESH:D059366 Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE. UMLS:C0264423|MESH:D059366|SNOMEDCT:57607007 http://purl.obolibrary.org/obo/MONDO_0022742 industrial asthma|Asthma, Occupational|Occupational Asthma|Asthmas, Occupational|occupational asthma|Occupational asthma|Occupational Asthmas|Industrial asthma MONDO:0009769 oculo-palato-cerebral syndrome biolink:Disease mondo MESH:C564935|Orphanet:2714|UMLS:C1850338|ICD10:Q87.1|SCTID:722055008|OMIM:257910 Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. UMLS:C1850338|ORPHA:2714|http://identifiers.org/omim/257910|SNOMEDCT:722055008|MESH:C564935 http://purl.obolibrary.org/obo/MONDO_0009769 oculo-palato-cerebral dwarfism|OPC dwarfism|oculopalatocerebral syndrome|oculopalatocerebral dwarfism ordo_malformation_syndrome MONDO:0007106 anal sphincter dysplasia biolink:Disease mondo MESH:C538254|UMLS:C1862936|OMIM:105563|GARD:0009822 MESH:C538254|UMLS:C1862936|http://identifiers.org/omim/105563 http://purl.obolibrary.org/obo/MONDO_0007106 anal sphincter dysplasia; ASDP|ASDP|anal sphincter dysplasia gard_rare MONDO:0007107 anal sphincter myopathy, internal biolink:Disease mondo OMIM:105565|UMLS:C1862935|MESH:C566287 UMLS:C1862935|MESH:C566287|http://identifiers.org/omim/105565 http://purl.obolibrary.org/obo/MONDO_0007107 anal sphincter myopathy, internal|proctalgia fugax due to anal sphincter myopathy MONDO:0009768 oculodentodigital dysplasia, autosomal recessive biolink:Disease mondo MESH:C567605|OMIM:257850|UMLS:C2749477|GARD:0004045 Autosomal recessive form of oculodentodigital dysplasia. MESH:C567605|UMLS:C2749477|http://identifiers.org/omim/257850 http://purl.obolibrary.org/obo/MONDO_0009768 autosomal recessive oculodentodigital dysplasia|oculodentoosseous dysplasia recessive|ODOD, autosomal recessive|oculodentodigital dysplasia, autosomal recessive|ODDD, autosomal recessive|ODOD recessive|oculodentoosseous dysplasia, autosomal recessive MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex biolink:Disease mondo ICD10:G12.2|Orphanet:90020|GARD:0009239|OMIM:105500 ORPHA:90020|http://identifiers.org/omim/105500 http://purl.obolibrary.org/obo/MONDO_0007104 amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome|Guam disease|amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam|PDALS|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam|Lytico-Bodig disease|Lytigo-Bodig disease|ALS-pDC|amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1|Parkinsonism-dementia-ALS complex ordo_disease MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type biolink:Disease mondo SCTID:17827007|ICD10:E70.3|GARD:0000105|OMIM:257800|Orphanet:2719|ICD9:759.89 Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia. SNOMEDCT:17827007|UMLS:C0268496|ORPHA:2719|UMLS:C2936910|http://identifiers.org/omim/257800 http://purl.obolibrary.org/obo/MONDO_0009767 Kramer syndrome|oculocerebral syndrome with hypopigmentation|oculocerebral hypopigmentation syndrome|Cross syndrome|hypopigmentation oculocerebral syndrome Cross type gard_rare|ordo_malformation_syndrome MONDO:0010756 Von Willebrand disease, X-linked form biolink:Disease mondo UMLS:C1839113|OMIM:314560|MESH:C564041 UMLS:C1839113|MESH:C564041|http://identifiers.org/omim/314560 http://purl.obolibrary.org/obo/MONDO_0010756 Von Willebrand disease, X-linked form|Von Willebrand disease, X-linked RO:0002451 transmitted by biolink:OntologyClass mondo RO:0002451 A relationship that holds between a disease and organism http://purl.obolibrary.org/obo/RO_0002451 MONDO:0010755 vesicoureteral reflux, X-linked biolink:Disease mondo OMIM:314550|MESH:C564042|UMLS:C1839114 UMLS:C1839114|MESH:C564042|http://identifiers.org/omim/314550 http://purl.obolibrary.org/obo/MONDO_0010755 vesicoureteral reflux, X-linked; VURX|VURX|vesicoureteral reflux, X-linked MONDO:0007105 frontotemporal dementia with motor neuron disease 1 biolink:Disease mondo UMLS:C1862937|DOID:0060213|OMIM:105550 Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene. UMLS:C1862937|DOID:0060213|http://identifiers.org/omim/105550 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72|frontotemporal dementia and/or amyotrophic lateral sclerosis type 1|frontotemporal dementia with motor neuron disease caused by mutation in C9orf72|FTDALS1|frontotemporal dementia and/or amyotrophic lateral sclerosis 1|ALSFTD|FTDMND|frontotemporal dementia and/or motor neuron disease|C9orf72 frontotemporal dementia with motor neuron disease|frontotemporal dementia and/or amyotrophic lateral sclerosis 1|C9ORF72 frontotemporal dementia with motor neuron disease|amyotrophic lateral sclerosis and/or frontotemporal dementia|frontotemporal dementia and/or amyotrophic lateral sclerosis 1; FTDALS1 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus biolink:Disease mondo UMLS:C2931646|SCTID:716174001|OMIM:257790|GARD:0004034 http://identifiers.org/omim/257790|SNOMEDCT:716174001|UMLS:C2931646 http://purl.obolibrary.org/obo/MONDO_0009766 oculocerebral hypopigmentation syndrome type Preus|oculocerebral hypopigmentation syndrome of Preus MONDO:0007102 amyotrophic dystonic paraplegia biolink:Disease mondo MESH:C566292|UMLS:C1862956|OMIM:105300 MESH:C566292|UMLS:C1862956|http://identifiers.org/omim/105300 http://purl.obolibrary.org/obo/MONDO_0007102 amyotrophic dystonic paraplegia MONDO:0010758 intellectual disability-developmental delay-contractures syndrome biolink:Disease mondo SCTID:722456001|OMIM:314580|ICD10:Q87.8|GARD:0007890|ICD10:G71.8|Orphanet:3454|OMIM:309605|MESH:C536703|SCTID:719012009|DOID:0060815|Orphanet:85283|GARD:0009984|MESH:C537472 A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability. MESH:C537472|ORPHA:85283|UMLS:C1839735|MESH:C536703|DOID:0060815|http://identifiers.org/omim/314580|http://identifiers.org/omim/309605|UMLS:C0796200|SNOMEDCT:722456001|SNOMEDCT:719012009|ORPHA:3454 http://purl.obolibrary.org/obo/MONDO_0010758 Miles-Carpenter syndrome|WRWFXLR|mental retardation, X-linked, with congenital contractures and low fingertip arches|Wieacker-Wolff syndrome|foot contractures-muscle atrophy-oculomotor apraxia syndrome|WRWF|X-linked intellectual disability, Miles-Carpenter type|MCS|Wieacker-Wolff syndrome; WRWF|contractures of feet, muscle atrophy, and oculomotor apraxia|MRXS4|mental retardation, X-linked, with congenital contractures and Low fingertip arches|Wieacker-Wolff syndrome, X-linked|Wieacker Wolff syndrome|Miles-CARPENTER X-linked mental retardation syndrome|Miles-CARPENTER X-linked mental retardation syndrome; MCS|Wieacker syndrome|apraxia, oculomotor, with congenital contractures and muscle atrophy|mental retardation, X-linked, syndromic 4 ordo_malformation_syndrome MONDO:0009765 ocular myopathy with curare sensitivity biolink:Disease mondo OMIM:257600|UMLS:C1850341|MESH:C564937 UMLS:C1850341|http://identifiers.org/omim/257600|MESH:C564937 http://purl.obolibrary.org/obo/MONDO_0009765 ocular myopathy with curare sensitivity CHEBI:33913 corrinoid biolink:ChemicalSubstance mondo A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions. http://purl.obolibrary.org/obo/CHEBI_33913 corrinoids|corrinoid|Corrinoid|Corrinoid protein|corrinoide|Corrinoid protein Co+|corrinoides|Korrinoid MONDO:0010757 widow's peak syndrome biolink:Disease mondo UMLS:C1839112|OMIM:314570|MESH:C564040 UMLS:C1839112|MESH:C564040|http://identifiers.org/omim/314570 http://purl.obolibrary.org/obo/MONDO_0010757 widow's peak syndrome|widow's peak, ptosis, and skeletal anomalies MONDO:0007103 amyotrophic lateral sclerosis type 1 biolink:Disease mondo ICD10:G12.2|DOID:0060193|OMIM:105400|MESH:C531617 MESH:C531617|DOID:0060193|http://identifiers.org/omim/105400 http://purl.obolibrary.org/obo/MONDO_0007103 amyotrophic lateral sclerosis 1|FALS|amyotrophic lateral sclerosis 1; ALS1|amyotrophic lateral sclerosis, autosomal dominant|amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included|amyotrophic lateral sclerosis 1, autosomal recessive|amyotrophic lateral sclerosis 1, familial|amyotrophic lateral sclerosis, familial|amyotrophic lateral sclerosis, sporadic|amyotrophic lateral sclerosis 1, autosomal dominant|amyotrophic lateral sclerosis, sporadic, included|ALS1|amyotrophic lateral sclerosis type 1 MONDO:0009764 ocular motor apraxia, Cogan type biolink:Disease mondo ICD10:H51.8|GARD:0000016|MESH:C537423|Orphanet:1125|SCTID:405809000|OMIM:257550 Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. ORPHA:1125|UMLS:C0543874|http://identifiers.org/omim/257550|MESH:C537423|SNOMEDCT:405809000 http://purl.obolibrary.org/obo/MONDO_0009764 congenital oculomotor apraxia|Cogan's syndrome type 2|oculomotor apraxia Cogan type|saccade initiation failure, congenital|oculomotor apraxia, Cogan type|Cogan syndrome type 2|COMA|ocular motor apraxia|saccade initiation failure congenital gard_rare|ordo_disease MONDO:0007100 familial amyloid neuropathy biolink:Disease mondo SCTID:42295001|DOID:0050638|UMLS:C2751492|ICD10:E85.1+|GARD:0000656|EFO:0004129|NCIT:C84554|Orphanet:85447|OMIM:105210|DOID:0050761|UMLS:C0206245|ICD10:G63.3*|ICD9:277.39 Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur. UMLS:C0206245|ORPHA:85447|DOID:0050638|SNOMEDCT:42295001|DOID:0050761|http://identifiers.org/omim/105210|UMLS:C2751492|NCIT:C84554 http://purl.obolibrary.org/obo/MONDO_0007100 familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)|paramyloidosis|familial amyloid polyneuropathy type I|amyloidosis, hereditary, transthyretin-related|amyloid Neuropathies, familial|Corino de Andrade's disease|amyloid cardiomyopathy, transthyretin-related|transthyretin-related hereditary amyloidosis|familial amyloid polyneuropathy|TTR amyloidosis|amyloidosis transthyretin related|transthyretin amyloid neuropathy|amyloidosis, leptomeningeal, transthyretin-related|ATTRV30M-related amyloidosis|transthyretin amyloid polyneuropathy|transthyretin amyloidosis|hereditary amyloidosis, transthyretin-related|ATTRV30M amyloidosis|familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type|familial transthyretin amyloidosis|amyloid polyneuropathy, familial|TTR amyloid neuropathy ordo_disease MONDO:0009763 obesity-hypoventilation syndrome biolink:Disease mondo SCTID:190966007|OMIM:257500|MESH:D010845|ICD9:786.09|UMLS:C0031880 Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately. UMLS:C0031880|http://identifiers.org/omim/257500|SNOMEDCT:190966007|MESH:D010845 http://purl.obolibrary.org/obo/MONDO_0009763 obesity-hypoventilation syndrome|Pickwickian syndrome MONDO:0007101 familial primary localized cutaneous amyloidosis biolink:Disease mondo UMLS:CN204529|ICD10:L99.0*|MESH:C562643|Orphanet:353220|GARD:0000132|ICD10:E85.4+ Primary cutaneous amyloidosis is a form of amyloidosis, a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous amyloidosis: Lichen amyloidosis - multiple itchy, raised spots which are scaly and red/brown in color. This rash generally affects the shins, thighs, feet and forearms. Macular amyloidosis - mild to severely itchy, flat, dusky-brown or greyish colored spots that may come together to form patches of darkened skin. This rash generally appears on the upper back between the shoulder blades, the chest and less commonly, the arms. Nodular amyloidosis - asymptomatic firm bumps that may be pinkish-brown to red in color. This rash may occur on the trunk, limbs, face, and/or genitals.The exact underlying cause of primary cutaneous amyloidosis is poorly understood. It is sometimes associated with other conditions such as atopic dermatitis, sarcoidosis, and psoriasis. Although most cases occur sporadically in people with no family history of the condition, there are rare familial forms caused by changes (mutations) in the OSMR or IL31RA gene. Treatment is based on the signs and symptoms present in each person and may include surgery to remove amyloid deposits and/or certain medications to relieve itching. ORPHA:353220|MESH:C562643|UMLS:CN204529 http://purl.obolibrary.org/obo/MONDO_0007101 lichen amyloidosis familial|amyloidosis IX|PLCA|amyloidosis, primary localized cutaneous, 1|amyloidosis, primary localized cutaneous, type 1|amyloidosis 9|FPLCA|hereditary primary cutaneous amyloidosis|amyloidosis familial cutaneous lichen|primary localized cutaneous amyloidosis|PLCA1 ordo_disease|gard_rare MONDO:0009762 nystagmus, congenital, autosomal recessive biolink:Disease mondo OMIM:257400|GARD:0009609|MESH:C564938|UMLS:C3151571 http://identifiers.org/omim/257400|UMLS:C3151571|MESH:C564938 http://purl.obolibrary.org/obo/MONDO_0009762 nystagmus, congenital, autosomal recessive|Nystagmus, congenital motor, autosomal recessive MONDO:0010759 Wildervanck syndrome biolink:Disease mondo GARD:0005569|UMLS:C0265239|ICD10:Q87.8|ICD9:759.89|SCTID:79665007|OMIM:314600|Orphanet:3456|MedDRA:10069402 Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness. UMLS:C0265239|MESH:C536706|SNOMEDCT:79665007|MEDDRA:10069402|http://identifiers.org/omim/314600|ORPHA:3456 http://purl.obolibrary.org/obo/MONDO_0010759 cervico-oculo-acoustic syndrome|Cervicooculoacoustic syndrome|Wildervanck syndrome|cervico-oculo-acoustic dysplasia|COA syndrome gard_rare|ordo_malformation_syndrome MONDO:0009761 cystic hygroma biolink:Disease mondo ICD10:D18.1|Orphanet:79486|NCIT:C3724|MedDRA:10058949|DOID:3081|MESH:D018191|ICDO:9173/0|OMIM:257350|SCTID:399882002|GARD:0006234|EFO:1000888 A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. NCIT:C3724|SNOMEDCT:399882002|http://identifiers.org/omim/257350|DOID:3081|ORPHA:79486|MESH:D018191 http://purl.obolibrary.org/obo/MONDO_0009761 macrocystic lymphatic malformation|cystic hygroma, fetal|nuchal bleb, familial|cystic hygroma|hygroma|cystic lymphangioma gard_rare|ordo_clinical_subtype MONDO:0009760 Norman-Roberts syndrome biolink:Disease mondo Orphanet:89844|OMIM:257320|DOID:0060902|ICD10:Q04.3|GARD:0003277|SCTID:717977003|UMLS:C0796089 Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. http://identifiers.org/omim/257320|MESH:C537848|SNOMEDCT:717977003|DOID:0060902|ORPHA:89844|UMLS:C0796089 http://purl.obolibrary.org/obo/MONDO_0009760 LIS2|Norman-Roberts syndrome|Microlissencephaly type A|lissencephaly type 2|lissencephaly syndrome Norman-Roberts type|lissencephaly syndrome, Norman-Roberts type|lissencephaly 2; LIS2|lissencephaly 2|Norman Roberts lissencephaly syndrome ordo_clinical_subtype RO:0002450 activity directly positively regulates activity of biolink:OntologyClass mondo Holds between molecular entities A and B where A can physically interact with B and in doing so positively regulates a process that B is capable of. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B. http://purl.obolibrary.org/obo/RO_0002450 molecularly increases activity of RO:0002448 directly regulates activity of biolink:OntologyClass mondo Holds between molecular entities A and B where A can physically interact with B and in doing so regulates a process that B is capable of. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. http://purl.obolibrary.org/obo/RO_0002448 molecularly controls RO:0002449 activity directly negatively regulates activity of biolink:OntologyClass mondo Holds between molecular entities A and B where A can physically interact with B and in doing so negatively regulates a process that B is capable of. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B. http://purl.obolibrary.org/obo/RO_0002449 molecularly decreases activity of MONDO:0010761 retinitis pigmentosa Y-linked biolink:Disease mondo UMLS:C1839079|OMIM:400004|ICD10:H35.5|DOID:0110418|MESH:C564035 Y-linked form of retinitis pigmentosa. DOID:0110418|UMLS:C1839079|http://identifiers.org/omim/400004|MESH:C564035 http://purl.obolibrary.org/obo/MONDO_0010761 Y-linked retinitis pigmentosa|RPY|retinitis pigmentosa, Y-linked; RPY|retinitis pigmentosa, Y-linked MONDO:0010760 XH antigen biolink:Disease mondo OMIM:314800 http://identifiers.org/omim/314800 http://purl.obolibrary.org/obo/MONDO_0010760 XH antigen HGNC:29242 SH3PXD2B biolink:OntologyClass mondo http://identifiers.org/hgnc/29242 MONDO:0010763 spermatogenic failure, Y-linked, 1 biolink:Disease mondo OMIM:400042|DOID:0070186 DOID:0070186|http://identifiers.org/omim/400042 http://purl.obolibrary.org/obo/MONDO_0010763 incomplete Sertoli cell-only syndrome|Sertoli cell-only syndrome, Y-linked|spermatogenic failure, Y-linked, type 1|Sertoli cell-only syndrome, type 2|Sertoli cell-only syndrome, type 1|spermatogenic failure, Y-linked, 1|hypospermatogenesis|SPGFY1|spermatogenic failure, Y-linked, 1; SPGFY1 MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal biolink:Disease mondo MESH:C564034|OMIM:400021|UMLS:C1839076 http://identifiers.org/omim/400021|UMLS:C1839076|MESH:C564034 http://purl.obolibrary.org/obo/MONDO_0010762 Hodgkin disease, Y-linked Pseudoautosomal|lymphoma, Hodgkin, Y-linked pseudoautosomal GO:0042401 cellular biogenic amine biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways occurring at the level of individual cells resulting in the formation of any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. http://purl.obolibrary.org/obo/GO_0042401 biogenic amine synthesis|biogenic amine formation|biogenic amine biosynthesis|biogenic amine anabolism MONDO:0010765 46,XY complete gonadal dysgenesis biolink:Disease mondo OMIMPS:400044|SCTID:95218005|UMLS:C2936694|UMLS:C0018054|DOID:14448|MESH:D006061|ICD10:Q99.1|NCIT:C120198|GARD:0005068|Orphanet:242 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. DOID:14448|MESH:D006061|UMLS:C0018054|NCIT:C120198|UMLS:C2936694|ORPHA:242|SNOMEDCT:95218005 http://purl.obolibrary.org/obo/MONDO_0010765 46,XY CGD|Swyer syndrome|46,XY SEX reversal|46,XY pure gonadal dysgenesis|sex-reversing locus on X, formerly|46, XY CGD|pure gonadal dysgenesis 46,XY|sex-reversing locus on X|46, XY pure gonadal dysgenesis|testis-determining Factor, X-chromosomal|46, XY complete gonadal dysgenesis|gonadal dysgenesis, XY female type|46,XY gonadal dysgenesis|46 XY gonadal dysgenesis prototype_pattern|ordo_malformation_syndrome MONDO:0010764 deafness, Y-linked 1 biolink:Disease mondo OMIM:400043|UMLS:C3888076 UMLS:C3888076|http://identifiers.org/omim/400043 http://purl.obolibrary.org/obo/MONDO_0010764 deafness, Y-linked 1; DFNY1|DFNY1|deafness, Y-linked 1 GO:0042403 thyroid hormone metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. http://purl.obolibrary.org/obo/GO_0042403 thyroid hormone metabolism RO:0002447 phosphorylates biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002447 MONDO:0022734 chorioretinopathy dominant form microcephaly biolink:Disease mondo GARD:0001308 http://purl.obolibrary.org/obo/MONDO_0022734 gard_rare MONDO:0022735 choroid plexus cyst biolink:Disease mondo GARD:0001309|SCTID:230790004 SNOMEDCT:230790004 http://purl.obolibrary.org/obo/MONDO_0022735 choroid plexus cyst|CPC - choroid plexus cyst gard_rare MONDO:0022736 occupational lung disease biolink:Disease mondo GARD:0012752|ICD9:508.9|SCTID:86157004|UMLS:C0264421 UMLS:C0264421|SNOMEDCT:86157004 http://purl.obolibrary.org/obo/MONDO_0022736 Occupational inhalation disease|Occupational respiratory disease|Occupational lung disease|Occupational pulmonary disease|Occupational lung disorder MONDO:0022737 choroideremia hypopituitarism biolink:Disease mondo SCTID:715417002|GARD:0001312|UMLS:C4275146 This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. SNOMEDCT:715417002|UMLS:C4275146 http://purl.obolibrary.org/obo/MONDO_0022737 choroideraemia co-occurrent with hypopituitarism|choroideremia hypopituitarism|choroideraemia hypopituitarism|choroideremia co-occurrent with hypopituitarism gard_rare MONDO:0022739 Christian demyer franken syndrome biolink:Disease mondo GARD:0001315 http://purl.obolibrary.org/obo/MONDO_0022739 gard_rare HGNC:17264 POLR1A biolink:OntologyClass mondo http://identifiers.org/hgnc/17264 HGNC:2277 COX6A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2277 HGNC:30242 TUSC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/30242 HGNC:17272 CENPJ biolink:OntologyClass mondo http://identifiers.org/hgnc/17272 MONDO:0007119 isolated aniridia biolink:Disease mondo Orphanet:250923|ICD10:Q13.1|OMIMPS:106210 Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. ORPHA:250923 http://purl.obolibrary.org/obo/MONDO_0007119 nonsyndromic aniridia|aniridia without systemic involvement ordo_morphological_anomaly|prototype_pattern MONDO:0007117 obsolete angioedema, hereditary, type 1/2 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007117 MONDO:0022732 chorea minor biolink:Disease mondo GARD:0006057 http://purl.obolibrary.org/obo/MONDO_0022732 gard_rare MONDO:0009779 autosomal recessive omodysplasia biolink:Disease mondo ICD10:Q78.8|UMLS:C1850318|GARD:0004076|SCTID:725166005|Orphanet:93329|OMIM:258315 Autosomal recessive form of omodysplasia. UMLS:C1850318|http://identifiers.org/omim/258315|SNOMEDCT:725166005|ORPHA:93329 http://purl.obolibrary.org/obo/MONDO_0009779 omodysplasia, generalized form|omodysplasia type 1|omodysplasia autosomal recessive|omodysplasia, autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius|omodysplasia 1|micromelic dysplasia congenita with dislocation of radius|omodysplasia generalized form|OMOD1|omodysplasia 1; OMOD1|micromelic dysplasia-dislocation of radius syndrome ordo_clinical_subtype MONDO:0022733 choreoacanthocytosis amyotrophic biolink:Disease mondo GARD:0001306 http://purl.obolibrary.org/obo/MONDO_0022733 gard_rare MONDO:0007118 isolated anhidrosis with normal sweat glands biolink:Disease mondo DOID:0060603|UMLS:C1862871|Orphanet:468666|OMIM:106190 Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene. ORPHA:468666|UMLS:C1862871|http://identifiers.org/omim/106190|DOID:0060603 http://purl.obolibrary.org/obo/MONDO_0007118 anhidrosis caused by mutation in ITPR2|anhidrosis, isolated, with normal sweat glands|ANHD|ITPR2 anhidrosis|Dann-Epstein-Sohar syndrome|isolated generalized anhidrosis with normal sweat glands|anhidrosis, isolated, with normal sweat glands; ANHD ordo_disease MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome biolink:Disease mondo SCTID:718196002|UMLS:C1839161|OMIM:314050|Orphanet:231393|MESH:C564050|NCIT:C134941|ICD10:D69.4 Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. ORPHA:231393|UMLS:C1839161|SNOMEDCT:718196002|NCIT:C134941|MESH:C564050|http://identifiers.org/omim/314050 http://purl.obolibrary.org/obo/MONDO_0010745 thrombocytopenia with BETA-thalassemia, X-linked|thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis|thrombocytopenia with BETA-thalassemia, X-linked; XLTT|X-linked thrombocytopenia with Beta-thalassemia|XLTT ordo_disease MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive biolink:Disease mondo MESH:C564930|OMIM:258300|UMLS:C1850319 UMLS:C1850319|http://identifiers.org/omim/258300|MESH:C564930 http://purl.obolibrary.org/obo/MONDO_0009778 OPCA II, Fickler-Winkler type|olivopontocerebellar atrophy II, autosomal recessive MONDO:0007115 angioma serpiginosum, autosomal dominant biolink:Disease mondo OMIM:106050|UMLS:C1970130|GARD:0010189|MESH:C536365 UMLS:C1970130|http://identifiers.org/omim/106050|MESH:C536365 http://purl.obolibrary.org/obo/MONDO_0007115 autosomal dominant angioma serpiginosum|angioma serpiginosum, autosomal dominant gard_rare MONDO:0009777 Oliver syndrome biolink:Disease mondo OMIM:258200|ICD10:Q87.2|MESH:C564931|SCTID:721017000|UMLS:C1850320|Orphanet:2920|GARD:0004069 Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. UMLS:C1850320|http://identifiers.org/omim/258200|SNOMEDCT:721017000|ORPHA:2920|MESH:C564931 http://purl.obolibrary.org/obo/MONDO_0009777 postaxial polydactyly and intellectual disability|postaxial polydactyly-intellectual disability syndrome|postaxial polydactyly and mental retardation|Oliver syndrome gard_rare|ordo_malformation_syndrome MONDO:0007116 hereditary neurocutaneous angioma biolink:Disease mondo ICD10:D18.0|Orphanet:1062|GARD:0000676|OMIM:106070 Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant. ORPHA:1062|http://identifiers.org/omim/106070|MESH:C536364|UMLS:C1275084 http://purl.obolibrary.org/obo/MONDO_0007116 hereditary neurocutaneous malformation|angioma, hereditary neurocutaneous|spinal arterial Venous malformations with cutaneous hemangiomas|angioma hereditary neurocutaneous|hereditary neurocutaneous angioma|hemangiomatosis, disseminated ordo_disease MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease biolink:Disease mondo GARD:0010576|OMIM:314000|UMLS:C1839162|MESH:C564051 UMLS:C1839162|MESH:C564051|http://identifiers.org/omim/314000 http://purl.obolibrary.org/obo/MONDO_0010744 thrombocytopenia with elevated serum IgA and renal disease MONDO:0009776 spermatogenic failure 1 biolink:Disease mondo Orphanet:217034|SCTID:236803007|DOID:0070188|UMLS:C0403810|MESH:C562902|OMIM:258150 SNOMEDCT:236803007|http://identifiers.org/omim/258150|UMLS:C0403810|ORPHA:217034|DOID:0070188|MESH:C562902 http://purl.obolibrary.org/obo/MONDO_0009776 spermatogenic failure 1|spermatogenic failure 1; SPGF1|Oligosynaptic infertility|Oligochiasmatic infertility|SPGF1 MONDO:0007113 Angelman syndrome biolink:Disease mondo DOID:1932|SCTID:76880004|UMLS:C0162635|MedDRA:10049004|Orphanet:72|ICD10:Q93.5|OMIM:105830|MESH:D017204|ICD10:Q93.51|NCIT:C75462|MESH:C531619|GARD:0005810|ICD9:759.89 Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. MEDDRA:10049004|MESH:C531619|SNOMEDCT:76880004|UMLS:C0162635|NCIT:C75462|MESH:D017204|http://identifiers.org/omim/105830|ORPHA:72|DOID:1932 http://purl.obolibrary.org/obo/MONDO_0007113 Angelman syndrome; AS|happy puppet syndrome|happy puppet syndrome (formerly)|happy puppet syndrome, formerly|Angelman syndrome|puppetlike syndrome|AS|Angelman syndrome chromosome region ordo_malformation_syndrome MONDO:0010747 X-linked dystonia-parkinsonism biolink:Disease mondo SCTID:698279003|DOID:0090057|MESH:C564048|OMIM:314250|NCIT:C126330|GARD:0010533|UMLS:C1839130|ICD10:G24.1|Orphanet:53351 X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course. UMLS:C1839130|SNOMEDCT:698279003|MESH:C564048|DOID:0090057|NCIT:C126330|ORPHA:53351|http://identifiers.org/omim/314250 http://purl.obolibrary.org/obo/MONDO_0010747 Lubag|X-linked dystonia-parkinsonism/Lubag|dystonia 3, torsion, X-linked|DYT3|dystonia 3, torsion, X-linked; DYT3|dystonia-Parkinsonism, X-linked|X-linked dystonia Parkinsonism|torsion dystonia-Parkinsonism, Filipino type|DYT-TAF1|X-linked torsion dystonia-Parkinsonism syndrome|XDP|X-linked dystonia-Parkinsonism syndrome|Lubag syndrome ordo_disease MONDO:0009775 Oguchi disease-1 biolink:Disease mondo OMIM:258100|DOID:0110712 Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene. http://identifiers.org/omim/258100|DOID:0110712 http://purl.obolibrary.org/obo/MONDO_0009775 Oguchi disease caused by mutation in SAG|CSNBO1|night blindness, congenital stationary, Oguchi type 1|Oguchi disease 1|Oguchi disease type 1|SAG Oguchi disease|congenital stationary night blindness Oguchi type 1 MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia biolink:Disease mondo MESH:C536361|ICD10:Q78.8|Orphanet:63442|OMIM:105835|GARD:0000671|MedDRA:10066017|SCTID:720984008 Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. MEDDRA:10066017|ORPHA:63442|SNOMEDCT:720984008|MESH:C536361|http://identifiers.org/omim/105835 http://purl.obolibrary.org/obo/MONDO_0007114 Angel shaped phalangoepiphyseal dysplasia|ASPED|ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia; ASPED|ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia ordo_malformation_syndrome MONDO:0010746 thumbs, congenital Clasped biolink:Disease mondo UMLS:CN074234|GARD:0010277|OMIM:314100 UMLS:CN074234|http://identifiers.org/omim/314100 http://purl.obolibrary.org/obo/MONDO_0010746 adducted thumbs syndrome|Clasped thumbs, congenital|thumbs, congenital Clasped UBERON:2002098 hemal spine series biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_2002098 MONDO:0009774 cloacal exstrophy (disease) biolink:Disease mondo MESH:C537748|NCIT:C99142|SCTID:20815007|Orphanet:93929|DOID:0080175|OMIM:258040|HP:0010475|GARD:0004080|ICD9:759.89|MedDRA:10067424|ICD10:Q64.1|UMLS:C1850321 Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. DOID:0080175|MESH:C537748|NCIT:C99142|SNOMEDCT:20815007|MEDDRA:10067424|http://identifiers.org/omim/258040|UMLS:C1850321|ORPHA:93929 http://purl.obolibrary.org/obo/MONDO_0009774 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects|omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome|omphalocele-exstrophy-imperforate anus-spinal defects|OEIS syndrome|cloacal exstrophy|omphalocele - cloacal exstrophy - imperforate anus - spinal defect|OEIS complex|cloacal exstrophy sequence ordo_clinical_subtype MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome biolink:Disease mondo ICD10:Q87.0|OMIM:314320|GARD:0000243|MESH:C536620|Orphanet:3369|SCTID:733066002 Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out. ORPHA:3369|SNOMEDCT:733066002|MESH:C536620|http://identifiers.org/omim/314320 http://purl.obolibrary.org/obo/MONDO_0010749 Say Meyer syndrome|Say-Meyer syndrome|trigonocephaly with short stature and developmental delay|trigonocephaly, short stature, and retarded psychomotor development|trigonocephaly, short stature and developmental delay ordo_malformation_syndrome MONDO:0007111 aneurysm, intracranial berry type 1 biolink:Disease mondo OMIM:105800|MESH:C566284|UMLS:C1862932 UMLS:C1862932|MESH:C566284|http://identifiers.org/omim/105800 http://purl.obolibrary.org/obo/MONDO_0007111 aneurysmal subarachnoid hemorrhage, familial|aneurysm, intracranial berry, 1; ANIB1|ANIB1|aneurysm, intracranial berry, 1 MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome biolink:Disease mondo OMIM:314300|Orphanet:3341|UMLS:C1839129|ICD10:Q87.8|GARD:0005230|MESH:C536970 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. UMLS:C1839129|MESH:C536970|http://identifiers.org/omim/314300|ORPHA:3341 http://purl.obolibrary.org/obo/MONDO_0010748 torticollis, keloids, cryptorchidism, and renal dysplasia|torticollis, keloids, cryptorchidism, and renal dysplasia; TKCR|Tkc|Tkcr syndrome|torticollis keloids cryptorchidism renal dysplasia|Goeminne syndrome|TKCR ordo_malformation_syndrome MONDO:0007112 interventricular septum aneurysm biolink:Disease mondo ICD10:Q21.0|Orphanet:99092|UMLS:C1387721|OMIM:105805|MESH:C563239 Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. ORPHA:99092|UMLS:C1387721|MESH:C563239|http://identifiers.org/omim/105805 http://purl.obolibrary.org/obo/MONDO_0007112 aneurysm of interventricular septum ordo_morphological_anomaly MONDO:0009773 odonto-onycho-dermal dysplasia biolink:Disease mondo GARD:0004054|MESH:C537742|ICD10:Q82.4|Orphanet:2721|SCTID:403762003|UMLS:C0796093|OMIM:257980 Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. ORPHA:2721|MESH:C537742|http://identifiers.org/omim/257980|UMLS:C1275074|SNOMEDCT:403762003|UMLS:C0796093 http://purl.obolibrary.org/obo/MONDO_0009773 OODD|odontoonychodermal dysplasia|odontoonychodermal dysplasia; OODD ordo_disease MONDO:0009772 oculorenocerebellar syndrome biolink:Disease mondo OMIM:257970|GARD:0004050|Orphanet:2715|UMLS:C1850331|MESH:C537739 ORPHA:2715|MESH:C537739|http://identifiers.org/omim/257970|UMLS:C1850331 http://purl.obolibrary.org/obo/MONDO_0009772 absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy|absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy|oculorenocerebellar syndrome|ORC syndrome ordo_malformation_syndrome|gard_rare HGNC:29256 SOBP biolink:OntologyClass mondo http://identifiers.org/hgnc/29256 MONDO:0007110 Diamond-Blackfan anemia 1 biolink:Disease mondo OMIM:105650|UMLS:C2676137 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene. UMLS:C2676137|http://identifiers.org/omim/105650 http://purl.obolibrary.org/obo/MONDO_0007110 DBA|DBA1|Blackfan-Diamond syndrome|Diamond-Blackfan anemia 1; DBA1|aregenerative Anemia, chronic congenital|Diamond-Blackfan Anemia type 1|Red cell aplasia, Pure, hereditary|Diamond-Blackfan anemia 1|Aase syndrome|anemia, congenital hypoplastic, of Blackfan and Diamond|RPS19 Diamond-Blackfan anemia|erythrogenesis imperfecta|anemia, congenital erythroid hypoplastic|Aase-Smith syndrome 2|Diamond-Blackfan anemia caused by mutation in RPS19 MONDO:0009771 oculotrichodysplasia biolink:Disease mondo Orphanet:2718|SCTID:722062004|UMLS:C1850332|MESH:C564934|OMIM:257960 Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. ORPHA:2718|SNOMEDCT:722062004|http://identifiers.org/omim/257960|MESH:C564934|UMLS:C1850332 http://purl.obolibrary.org/obo/MONDO_0009771 oculotrichodysplasia; OTD|Cecato de Lima-Pinheiro syndrome|OTD|oculotrichodysplasia ordo_malformation_syndrome MONDO:0009770 3MC syndrome 1 biolink:Disease mondo UMLS:C0796059|DOID:0060575|OMIM:257920|Orphanet:2506|EFO:1001978 Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene. ORPHA:2506|http://identifiers.org/omim/257920|DOID:0060575|UMLS:C0796059 http://purl.obolibrary.org/obo/MONDO_0009770 3MC syndrome caused by mutation in MASP1|3Mc syndrome type 1|Michels syndrome, formerly|3MC syndrome 1|craniosynostosis with 51D anomalies|3MC syndrome type 1|Michels syndrome|3MC syndrome 1; 3MC1|oculopalatoskeletal syndrome|3MC1|MASP1 3MC syndrome HGNC:29250 WDR35 biolink:OntologyClass mondo http://identifiers.org/hgnc/29250 MONDO:0010750 ulnar hypoplasia-split foot syndrome biolink:Disease mondo OMIM:314360|Orphanet:1122|ICD10:Q73.8|MESH:C536936|GARD:0005400|UMLS:C1839123 Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. MESH:C536936|http://identifiers.org/omim/314360|ORPHA:1122|UMLS:C1839123 http://purl.obolibrary.org/obo/MONDO_0010750 complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet|Van De Berghe Dequeker syndrome|ulnar hypoplasia with lobster-claw deformity of feet|Van den Berghe-Dequecker syndrome|severe ulnar aplasia and lobster claw feet|ulnar hypoplasia-lobster-claw deformity of feet syndrome|ulnar hypoplasia lobster claw deformity of feet|familial ulnar aplasia and lobster claw syndrome ordo_malformation_syndrome HGNC:29253 CC2D2A biolink:OntologyClass mondo http://identifiers.org/hgnc/29253 MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus biolink:Disease mondo UMLS:C2931228|GARD:0008498|OMIM:314390 UMLS:C2931228|http://identifiers.org/omim/314390 http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus|VACTERL association, X-linked, with or without hydrocephalus; VACTERLX|X-linked VACTERL-H syndrome|VACTERL association with hydrocephaly, X-linked|VACTERLX|VACTERL-H, X-linked RO:0002433 contributes to morphology of biolink:OntologyClass mondo p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. http://purl.obolibrary.org/obo/RO_0002433 RO:0002434 interacts with biolink:OntologyClass mondo A relationship that holds between two entities in which the processes executed by the two entities are causally connected. http://purl.obolibrary.org/obo/RO_0002434 in pairwise interaction with HGNC:2280 COX6B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2280 MONDO:0010751 unique green phenomenon biolink:Disease mondo UMLS:C1839116|OMIM:314380 http://identifiers.org/omim/314380|UMLS:C1839116 http://purl.obolibrary.org/obo/MONDO_0010751 unique green phenomenon MONDO:0010754 van den Bosch syndrome biolink:Disease mondo Orphanet:3417|SCTID:733110004|GARD:0005453|OMIM:314500|MESH:C563129|UMLS:C0796192 Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. MESH:C563129|SNOMEDCT:733110004|http://identifiers.org/omim/314500|UMLS:C0796192|ORPHA:3417 http://purl.obolibrary.org/obo/MONDO_0010754 van den Bosch syndrome|mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity ordo_malformation_syndrome|gard_rare MONDO:0010753 cardiac valvular dysplasia, X-linked biolink:Disease mondo OMIM:314400|MESH:C535576|GARD:0001096 MESH:C535576|http://identifiers.org/omim/314400 http://purl.obolibrary.org/obo/MONDO_0010753 cardiac valvular dysplasia, X-linked|valvular heart disease, congenital|CVD1|XMVD|CARDIAC valvular dysplasia, X-linked; CVD1|myxomatous valvular dystrophy, X-linked gard_rare RO:0002436 molecularly interacts with biolink:OntologyClass mondo An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other. http://purl.obolibrary.org/obo/RO_0002436 MONDO:0022723 chondrodysplasia biolink:Disease mondo SCTID:205465004 SNOMEDCT:205465004 http://purl.obolibrary.org/obo/MONDO_0022723 chondrodysplasia HGNC:30237 CC2D1A biolink:OntologyClass mondo http://identifiers.org/hgnc/30237 MONDO:0022725 obsolete chondrodysplasia lethal recessive biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022725 HP:0100659 Abnormality of the cerebral vasculature biolink:PhenotypicFeature mondo UMLS:C4022001 http://purl.obolibrary.org/obo/HP_0100659 Abnormality of the cerebral blood vessels MONDO:0022728 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022728 MONDO:0022729 chondrodysplasia punctata with steroid sulfatase deficiency biolink:Disease mondo GARD:0006050 http://purl.obolibrary.org/obo/MONDO_0022729 gard_rare HP:0100658 Cellulitis biolink:PhenotypicFeature mondo UMLS:C0007642|SNOMEDCT_US:385627004|MSH:D017192|SNOMEDCT_US:128936008|MSH:D002481|SNOMEDCT_US:128045006|UMLS:C0162627 A bacterial infection and inflammation of the skin und subcutaneous tissues. http://purl.obolibrary.org/obo/HP_0100658 Skin infections|Bacterial infection of skin|Skin infection hposlim_core HGNC:20893 BCOR biolink:OntologyClass mondo http://identifiers.org/hgnc/20893 MONDO:0009749 giant axonal neuropathy 1 biolink:Disease mondo OMIM:256850|GARD:0006500|Orphanet:643|DOID:0090068|ICD10:G60.8 Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy. ORPHA:643|DOID:0090068|http://identifiers.org/omim/256850 http://purl.obolibrary.org/obo/MONDO_0009749 giant axonal neuropathy caused by mutation in gan|giant axonal neuropathy caused by mutation in GAN|GAN1|giant axonal neuropathy type 1|giant axonal neuropathy 1, autosomal recessive; GAN1|gan|neuropathy, giant axonal|GAN giant axonal neuropathy|gan giant axonal neuropathy|giant axonal neuropathy 1, autosomal recessive ordo_disease MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia biolink:Disease mondo MESH:C564948|OMIM:256840|UMLS:C1850395|UMLS:C4303565|Orphanet:139578|ICD10:G60.8|SCTID:717827000 This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia. SNOMEDCT:717827000|MESH:C564948|ORPHA:139578|UMLS:C1850395|http://identifiers.org/omim/256840|UMLS:C4303565 http://purl.obolibrary.org/obo/MONDO_0009748 HSAN with spastic paraplegia|neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive ordo_disease MONDO:0009747 Navajo neurohepatopathy biolink:Disease mondo MESH:C538344|GARD:0003972|Orphanet:255229|DOID:0080125|OMIM:256810 UMLS:C1850406|MESH:C538344|ORPHA:255229|DOID:0080125|http://identifiers.org/omim/256810 http://purl.obolibrary.org/obo/MONDO_0009747 MPV17-related hepatocerebral mitochondrial DNA depletion syndrome|NN|Navajo familial neurogenic arthropathy|mitochondrial DNA depletion syndrome 6 (hepatocerebral type); MTDPS6|mitochondrial DNA depletion syndrome 6|mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|Navajo neuropathy|MTDPS6|Navajo neurohepatopathy ordo_disease MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 biolink:Disease mondo GARD:0003006|SCTID:62985007|NCIT:C118633|PMID:8696348|PMID:14272277|ICD10:G60.8|UMLS:C0020074|DOID:0070146|Orphanet:642|OMIM:256800|GARD:3006 Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever. UMLS:C0020074|DOID:0070146|NCIT:C118633|SNOMEDCT:62985007|ORPHA:642|http://identifiers.org/omim/256800 http://purl.obolibrary.org/obo/MONDO_0009746 insensitivity to pain, congenital, with anhidrosis|familial dysautonomia, type 2|congenital insensitivity to pain with anhidrosis|hereditary sensory and autonomic neuropathy type IV|HSAN4|hereditary sensory and autonomic neuropathy 4|CIPA|CIP-anhidrosis syndrome|hereditary sensory neuropathy type 4|congenital insensitivity to pain-anhidrosis syndrome|NTRK1 hereditary sensory and autonomic neuropathy|neuropathy, congenital sensory, with anhidrosis|hereditary sensory neuropathy type IV|insensitivity to pain, congenital, with anhidrosis; CIPA|HSNAN4|HSAN IV|hereditary sensory and autonomic neuropathy caused by mutation in NTRK1|HSAN 4 ordo_disease MONDO:0009745 neuronal ceroid lipofuscinosis 5 biolink:Disease mondo Orphanet:228360|ICD10:E75.4|DOID:0110728|MESH:C575534|OMIM:256731|GARD:0001223 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. MESH:C575534|ORPHA:228360|http://identifiers.org/omim/256731|DOID:0110728 http://purl.obolibrary.org/obo/MONDO_0009745 ceroid lipofuscinosis, neuronal, 5|CLN5 disease, juvenile|neuronal ceroid lipofuscinosis type 5|neuronal ceroid lipofuscinosis, late infantile, Finnish variant|neuronal ceroid lipofuscinosis caused by mutation in CLN5|ceroid lipofuscinosis, neuronal, type 5|CLN5 disease, adult|ceroid lipofuscinosis, neuronal, 5; CLN5|CLN5 disease, late infantile (subtype)|CLN5 disease|CLN5|ceroid lipofuscinosis, neuronal, 5, variable Age at onset|neuronal ceroid lipofuscinosis 5 variable age of onset|CLN5 neuronal ceroid lipofuscinosis|Finnish Vlincl|neuronal ceroid lipofuscinosis Finnish variant ordo_etiological_subtype|gard_rare MONDO:0010734 spatial visualization, aptitude for biolink:Disease mondo MESH:C564058|OMIM:313000|UMLS:C1839262 UMLS:C1839262|MESH:C564058|http://identifiers.org/omim/313000 http://purl.obolibrary.org/obo/MONDO_0010734 Turner syndrome-associated Neurocognitive phenotype|visuospatial/perceptual abilities|spatial visualization, aptitude for MONDO:0010733 hereditary spastic paraplegia 2 biolink:Disease mondo UMLS:C1839264|OMIM:312920|GARD:0004923|DOID:0110773|SCTID:723622007|ICD10:G11.4|Orphanet:99015 Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. ORPHA:99015|http://identifiers.org/omim/312920|UMLS:C1839264|MESH:C536857|SNOMEDCT:723622007|DOID:0110773 http://purl.obolibrary.org/obo/MONDO_0010733 X-linked spastic paraplegia type 2|Sppx2|spastic paraplegia 2|X-linked spastic paraplegia 2|hereditary spastic paraplegia type 2|SPG2|spastic paraplegia 2, X-linked; SPG2|spastic paraplegia type 2|spastic paraplegia 2, X-linked|hereditary spastic paraplegia caused by mutation in PLP1|PLP1 hereditary spastic paraplegia|spastic gait type 2|spastic paraparesis type 2 ordo_disease MONDO:0009744 neuronal ceroid lipofuscinosis 1 biolink:Disease mondo Orphanet:228329|OMIM:256730|NCIT:C85861|GARD:0001219|ICD10:E75.4|DOID:0110721 A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. NCIT:C85861|ORPHA:228329|http://identifiers.org/omim/256730|DOID:0110721 http://purl.obolibrary.org/obo/MONDO_0009744 Santavuori disease|neuronal ceroid lipofuscinosis, infantile|CLN1 variable age at onset|adult CLN (type of CLN1)|ceroid lipofuscinosis, neuronal, 1|CLN1|ceroid lipofuscinosis, neuronal, 1, variable Age at onset|infantile CLN (type of CLN1)|neuronal ceroid lipofuscinosis caused by mutation in PPT1|neuronal ceroid lipofuscinosis 1 variable age of onset|juvenile CLN (type of CLN1)|PPT1 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, type 1|CLN1 disease|classic late infantile CLN (type of CLN1)|ceroid lipofuscinosis neuronal 1|neuronal ceroid lipofuscinosis type 1|Santavuori-Haltia disease|ceroid lipofuscinosis, neuronal, 1; CLN1|infantile neuronal ceroid lipofuscinosis gard_rare|ordo_etiological_subtype RO:0002430 involved in negative regulation of biolink:OntologyClass mondo c involved in regulation of p if c is involved in some p' and p' negatively regulates some p http://purl.obolibrary.org/obo/RO_0002430 MONDO:0010736 split hand-foot malformation 2 biolink:Disease mondo DOID:0090027|GARD:0004968|OMIM:313350|MESH:C564056|ICD10:Q71.6 A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26. MESH:C564056|DOID:0090027|http://identifiers.org/omim/313350 http://purl.obolibrary.org/obo/MONDO_0010736 SHSF2|split hand-foot malformation type 2|split-hand/foot deformity 2|SHFM2|split hand/foot malformation X-linked|split-hand/split-foot anomaly, X-linked|split-hand/foot malformation 2; SHFM2|SHFD2|split hand foot anomaly - X-linked|split hand foot deformity 2|split-hand/foot malformation 2 gard_rare MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility biolink:Disease mondo MESH:C564954|UMLS:C1850465|OMIM:256720 UMLS:C1850465|http://identifiers.org/omim/256720|MESH:C564954 http://purl.obolibrary.org/obo/MONDO_0009743 neurologic disease, infantile multisystem, with osseous fragility RO:0002431 involved in or involved in regulation of biolink:OntologyClass mondo c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p http://purl.obolibrary.org/obo/RO_0002431 MONDO:0009742 neuroectodermal melanolysosomal disease biolink:Disease mondo UMLS:C1860157|OMIM:256710|SCTID:724091002|Orphanet:33445|MESH:C536203|ICD10:L81.4 Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. ORPHA:33445|UMLS:C1860157|MESH:C536203|SNOMEDCT:724091002|http://identifiers.org/omim/256710 http://purl.obolibrary.org/obo/MONDO_0009742 ELEJALDE disease|Elejalde disease|neuroectodermal melanolysosomal disease ordo_malformation_syndrome MONDO:0010735 Kennedy disease biolink:Disease mondo MedDRA:10068600|MESH:D055534|NCIT:C85233|GARD:0006818|UMLS:C1839259|Orphanet:481|OMIM:313200|ICD10:G12.2|DOID:0060161 Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. MESH:D055534|UMLS:C0752353|ORPHA:481|UMLS:C1839259|DOID:0060161|NCIT:C85233|http://identifiers.org/omim/313200|UMLS:C0393547|MEDDRA:10068600 http://purl.obolibrary.org/obo/MONDO_0010735 spinal and bulbar muscular atrophy, X-linked 1; SMAX1|spinal and bulbar muscular atrophy|SMAX1|Kennedy spinal and bulbar muscular atrophy|bulbospinal neuronopathy, X-linked recessive|Kennedy disease|spinal and bulbar muscular atrophy, X-linked 1|X-linked BSMA|spinal and bulbar muscular atrophy, X-linked type 1|spinobulbar muscular atrophy|X-linked spinal and bulbar muscular atrophy|X-linked bulbo-spinal atrophy|X-linked bulbospinal amyotrophy|X-linked bulbospinal muscular atrophy|Kennedy's disease|spinal bulbar muscular atrophy|bulbospinal muscular atrophy, X-linked|SBMA ordo_disease RO:0002432 is active in biolink:OntologyClass mondo c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure. http://purl.obolibrary.org/obo/RO_0002432 enables activity in MONDO:0009741 neuroblastoma, susceptibility to biolink:Disease mondo OMIM:256700 http://identifiers.org/omim/256700 http://purl.obolibrary.org/obo/MONDO_0009741 neuroblastoma, susceptibility to, 1|susceptibility to neuroblastoma|neuroblastoma, susceptibility to predisposition MONDO:0010738 spondylometaphyseal dysplasia, Golden type biolink:Disease mondo OMIM:313420|GARD:0008343|MESH:C563124|ICD10:Q77.8|Orphanet:168544|UMLS:C0796172 Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. http://identifiers.org/omim/313420|UMLS:C0796172|MESH:C563124|ORPHA:168544 http://purl.obolibrary.org/obo/MONDO_0010738 spondylometaphyseal dysplasia X-linked|X-linked spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, X-linked|spondylometaphyseal dysplasia, Richmond type|spondylometaphyseal dysplasia Richmond type ordo_disease MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked biolink:Disease mondo OMIM:313400|GARD:0004985 X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern. http://identifiers.org/omim/313400 http://purl.obolibrary.org/obo/MONDO_0010737 X-linked spondyloepiphyseal dysplasia|X linked spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, X-linked|spondyloepiphyseal dysplasia tarda X-linked|Sed tarda, X-linked|SED|SEDT|spondyloepiphyseal dysplasia tarda, X-linked; SEDT|spondyloepiphyseal dysplasia, late gard_rare MONDO:0009740 neurofaciodigitorenal syndrome biolink:Disease mondo UMLS:C0796088|OMIM:256690|GARD:0003964|MESH:C537388|SCTID:725908007|ICD10:Q87.8|Orphanet:2673 Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. UMLS:C0796088|MESH:C537388|ORPHA:2673|SNOMEDCT:725908007|http://identifiers.org/omim/256690 http://purl.obolibrary.org/obo/MONDO_0009740 Freire Maia-Pinheiro-Opitz syndrome|Nfdr syndrome|neurofaciodigitorenal syndrome|Freire-Maia Pinheiro Opitz syndrome gard_rare|ordo_malformation_syndrome HGNC:29222 ZNF644 biolink:OntologyClass mondo http://identifiers.org/hgnc/29222 MONDO:0010739 Taqi polymorphism biolink:Disease mondo OMIM:313480 http://identifiers.org/omim/313480 http://purl.obolibrary.org/obo/MONDO_0010739 TaqI polymorphism; TAQ1|Taqi polymorphism|TAQ1 HGNC:2295 CP biolink:OntologyClass mondo http://identifiers.org/hgnc/2295 RO:0002427 causally downstream of or within biolink:OntologyClass mondo inverse of causally upstream of or within http://purl.obolibrary.org/obo/RO_0002427 RO:0002428 involved in regulation of biolink:OntologyClass mondo c involved in regulation of p if c is involved in some p' and p' regulates some p http://purl.obolibrary.org/obo/RO_0002428 RO:0002429 involved in positive regulation of biolink:OntologyClass mondo c involved in regulation of p if c is involved in some p' and p' positively regulates some p http://purl.obolibrary.org/obo/RO_0002429 MONDO:0010741 tooth agenesis, selective, X-linked, 1 biolink:Disease mondo OMIM:313500|UMLS:C1970757|MESH:C567060 Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene. http://identifiers.org/omim/313500|MESH:C567060|UMLS:C1970757 http://purl.obolibrary.org/obo/MONDO_0010741 STHAGX1|EDA tooth agenesis|tooth agenesis caused by mutation in EDA|hypodontia/oligodontia, X-linked, 1|tooth agenesis, selective, X-linked, type 1|tooth agenesis, selective, X-linked, 1|tooth agenesis, selective, X-linked, 1; STHAGX1 MONDO:0010740 taurodontism, microdontia, and dens invaginatus biolink:Disease mondo GARD:0010068|OMIM:313490|UMLS:C1839235|MESH:C536947 UMLS:C1839235|MESH:C536947|http://identifiers.org/omim/313490 http://purl.obolibrary.org/obo/MONDO_0010740 taurodontism, microdontia, and dens invaginatus gard_rare GO:0042423 catecholamine biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. http://purl.obolibrary.org/obo/GO_0042423 catecholamine synthesis|catecholamine formation|catecholamine anabolism|catecholamine biosynthesis HGNC:2291 COX7B biolink:OntologyClass mondo http://identifiers.org/hgnc/2291 MONDO:0010743 X-linked thrombocytopenia with normal platelets biolink:Disease mondo GARD:0005176|UMLS:C1839163|ICD10:D69.4|Orphanet:852|OMIM:313900 UMLS:C1839163|ORPHA:852|http://identifiers.org/omim/313900 http://purl.obolibrary.org/obo/MONDO_0010743 XLT|thrombocytopenia, X-linked, intermittent|thrombocytopenia 1; THC1|THC|THC1|thrombocytopenia type 1|thrombocytopenia, X-linked|X-linked thrombocytopenia|thrombocytopenia, X-linked, 1|thrombocytopenia 1 ordo_etiological_subtype MONDO:0010742 pentalogy of Cantrell biolink:Disease mondo NCIT:C99011|UMLS:C0559483|GARD:0007359|Orphanet:1335|ICD10:Q89.7|MESH:D058502|ICD9:759.89|SCTID:281587000|OMIM:313850 Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. ORPHA:1335|NCIT:C99011|UMLS:C0559483|MESH:D058502|SNOMEDCT:281587000|http://identifiers.org/omim/313850 http://purl.obolibrary.org/obo/MONDO_0010742 thoraco-abdominal syndrome|Cantrell pentalogy|Tas|THAS|Cantrell deformity|thoracoabdominal syndrome; THAS|pentalogy of Cantrell|thoracoabdominal syndrome|Midline defects, X-linked|Cantrell Haller Ravitsch syndrome|Cantrell syndrome ordo_malformation_syndrome|gard_rare MONDO:0022712 oculo digital syndrome biolink:Disease mondo MESH:C535922|GARD:0004025|UMLS:C2931063 MESH:C535922|UMLS:C2931063 http://purl.obolibrary.org/obo/MONDO_0022712 multiple ophthalmic anomalies and digital hypoplasia|Chemke-Oliver-Mallek syndrome|Chemke Oliver Mallek syndrome gard_rare HGNC:30225 SLC52A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30225 HGNC:20889 LRIG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/20889 MONDO:0022714 chester porphyria biolink:Disease mondo GARD:0010185 Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic. http://purl.obolibrary.org/obo/MONDO_0022714 PORC|porphyria, Chester type gard_rare MONDO:0022715 Chiari malformation type 3 biolink:Disease mondo GARD:0009233|SCTID:253186001 SNOMEDCT:253186001 http://purl.obolibrary.org/obo/MONDO_0022715 Arnold Chiari malformation type III|Chiari malformation type III|Chiari type III malformation gard_rare HGNC:30224 SLC52A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30224 HP:0002197 Generalized-onset seizure biolink:PhenotypicFeature mondo UMLS:C0234533|SNOMEDCT_US:246545002|UMLS:C1833488|MSH:D012640 A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. http://purl.obolibrary.org/obo/HP_0002197 Generalised-onset seizure|Generalised onset seizure|Generalized seizures|Generalized-onset seizures|Generalized onset seizure|Primary generalized seizure MONDO:0022716 Chiari malformation type 4 biolink:Disease mondo GARD:0009234|SCTID:253187005 SNOMEDCT:253187005 http://purl.obolibrary.org/obo/MONDO_0022716 Arnold Chiari malformation type IV|Chiari type IV malformation|Chiari malformation type IV gard_rare HP:0002198 Dilated fourth ventricle biolink:PhenotypicFeature mondo UMLS:C1847117 An abnormal dilatation of the fourth cerebral ventricle. http://purl.obolibrary.org/obo/HP_0002198 Enlarged fourth ventricle HGNC:17245 CPA6 biolink:OntologyClass mondo http://identifiers.org/hgnc/17245 HGNC:30220 RFT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30220 CHEBI:33909 metallotetrapyrrole biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33909 metal-tetrapyrrole|metal-tetrapyrrole complex|metallotetrapyrroles MONDO:0009759 mosaic variegated aneuploidy syndrome 1 biolink:Disease mondo UMLS:CN031748|OMIM:257300|DOID:0080141 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene. DOID:0080141|http://identifiers.org/omim/257300|UMLS:CN031748 http://purl.obolibrary.org/obo/MONDO_0009759 MOSAIC variegated aneuploidy syndrome 1; MVA1|mosaic variegated aneuploidy syndrome type 1|Mosaic variegated aneuploidy syndrome type 1|MVA1|BUB1B mosaic variegated aneuploidy syndrome|MVA syndrome|mosaic variegated aneuploidy syndrome caused by mutation in BUB1B|mosaic variegated aneuploidy syndrome 1 MONDO:0009758 congenital stationary night blindness 1B biolink:Disease mondo DOID:0110865|OMIM:257270|UMLS:C1850362 Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene. UMLS:C1850362|http://identifiers.org/omim/257270|DOID:0110865 http://purl.obolibrary.org/obo/MONDO_0009758 CSNB, complete, autosomal recessive|congenital stationary night blindness caused by mutation in GRM6|night blindness, congenital stationary, complete, autosomal recessive|night blindness, congenital stationary, type 1B|CSNB1B|GRM6 congenital stationary night blindness|night blindness, congenital stationary, type 1B; CSNB1B|congenital stationary night blindness 1B autosomal recessive|congenital stationary night blindness type 1B|autosomal recessive complete congenital stationary night blindness MONDO:0009757 Niemann-Pick disease, type C1 biolink:Disease mondo SCTID:18927009|NCIT:C126864|OMIM:257220|ICD10:E75.2|DOID:0070113|GARD:0007207|UMLS:C3179455 Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. NCIT:C126864|DOID:0070113|UMLS:C3179455|http://identifiers.org/omim/257220|SNOMEDCT:18927009 http://purl.obolibrary.org/obo/MONDO_0009757 Niemann-Pick disease with cholesterol esterification block|Niemann-Pick disease type C1|Niemann-Pick disease, type D|Niemann-Pick disease, nova Scotian type|Niemann-Pick disease, type C|NPC1|Niemann-Pick disease without sphingomyelinase deficiency|Niemann-Pick disease, subacute juvenile form|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|Niemann-PICK disease, type C1; NPC1|type C1 Niemann-Pick disease|Niemann-Pick disease, type C1|Niemann-Pick disease, chronic neuronopathic form MONDO:0009756 Niemann-Pick disease type A biolink:Disease mondo SCTID:52165006|GARD:0007206|OMIM:257200|ICD10:E75.2|UMLS:C0268242|MESH:D052536|NCIT:C126561|DOID:0070111|Orphanet:77292 Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. DOID:0070111|UMLS:C0268242|http://identifiers.org/omim/257200|SNOMEDCT:52165006|MESH:D052536|NCIT:C126561|ORPHA:77292 http://purl.obolibrary.org/obo/MONDO_0009756 sphingomyelin lipidosis|Niemann-PICK disease, type A|Niemann-Pick disease, Intermediate, protracted neurovisceral|sphingomyelinase deficiency ordo_disease MONDO:0010723 retinitis pigmentosa 2 biolink:Disease mondo ICD10:H35.5|MESH:C567523|UMLS:C2681923|DOID:0110415|OMIM:312600 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene. http://identifiers.org/omim/312600|MESH:C567523|UMLS:C2681923|DOID:0110415 http://purl.obolibrary.org/obo/MONDO_0010723 retinitis pigmentosa caused by mutation in RP2|RP2 retinitis pigmentosa|RP2|retinitis pigmentosa 2; RP2|retinitis pigmentosa 2|retinitis pigmentosa type 2 MONDO:0010722 X-linked retinal dysplasia biolink:Disease mondo GARD:0004680|UMLS:C4275241|OMIM:312550|Orphanet:1852|SCTID:715240000|ICD10:Q14.1 http://identifiers.org/omim/312550|ORPHA:1852|SNOMEDCT:715240000|UMLS:C4275241 http://purl.obolibrary.org/obo/MONDO_0010722 retinal dysplasia, primary; PRD|retinal dysplasia, primary|retinal dysplasia X-linked|PRD ordo_disease|gard_rare MONDO:0009755 neutrophil actin dysfunction biolink:Disease mondo UMLS:C1850380|MESH:C564942|NCIT:C3694|OMIM:257150 Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma. UMLS:C1850380|NCIT:C3694|http://identifiers.org/omim/257150|MESH:C564942 http://purl.obolibrary.org/obo/MONDO_0009755 Atypical Nevus|neutrophil actin dysfunction|Clark's Nevus|Nevus with architectural disorder|dysplastic nevi|lentiginous Nevus|NAD|neutrophil actin dysfunction; NAD|Nevus with architectural disorder and cytologic atypia of melanocytes|dysplastic nevus|dysplastic Nevus|Clark Nevus GO:0042430 indole-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton. http://purl.obolibrary.org/obo/GO_0042430 indole and derivative metabolism|indole derivative metabolism|ketole metabolic process|indole-containing compound metabolism|ketole metabolism|indole and derivative metabolic process|indole derivative metabolic process MONDO:0010725 X-linked retinoschisis biolink:Disease mondo ICD10:Q14.1|NCIT:C75483|SCTID:86923008|GARD:0004690|DOID:0060763|Orphanet:792|OMIM:312700 X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration. http://identifiers.org/omim/312700|NCIT:C75483|ORPHA:792|SNOMEDCT:86923008|DOID:0060763 http://purl.obolibrary.org/obo/MONDO_0010725 X-linked juvenile retinoschisis|retinoschisis 1, X-linked, juvenile; RS1|retinoschisis 1, X-linked, juvenile|retinoschisis juvenile X chromosome-linked|XLRS|juvenile retinoschisis|RS|XJR|X-linked juvenile retinoschisis type 1|retinoschisis X-linked|X-linked retinoschisis|juvenile X-linked retinoschisis|RS1|XLRS1|X-linked juvenile retinoschisis 1|retinoschisis, X-linked ordo_malformation_syndrome MONDO:0009754 neutropenia, lethal congenital, with eosinophilia biolink:Disease mondo MESH:C564943|UMLS:C1850381|OMIM:257100|GARD:0006107 UMLS:C1850381|http://identifiers.org/omim/257100|MESH:C564943 http://purl.obolibrary.org/obo/MONDO_0009754 neutropenia lethal congenital with eosinophilia|lethal congenital neutropenia with eosinophilia|neutropenia, lethal congenital, with eosinophilia gard_rare MONDO:0009753 obsolete neurovisceral storage disease with Curvilinear bodies biolink:Disease mondo UMLS:C1850382|OMIM:257000|MESH:C564944 UMLS:C1850382|http://identifiers.org/omim/257000|MESH:C564944 http://purl.obolibrary.org/obo/MONDO_0009753 neurovisceral storage disease with Curvilinear bodies MONDO:0010724 obsolete RP6 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010724 MONDO:0010727 Russell-silver syndrome, X-linked biolink:Disease mondo SCTID:702412005|ICD9:758.81|OMIM:312780 http://identifiers.org/omim/312780|SNOMEDCT:702412005 http://purl.obolibrary.org/obo/MONDO_0010727 Russell-Silver-like syndrome with skin pigmentation|Partington syndrome|Russell-silver syndrome, X-linked MONDO:0009752 neuropathy, painful biolink:Disease mondo MESH:C564945|UMLS:C1850383|OMIM:256870 UMLS:C1850383|http://identifiers.org/omim/256870|MESH:C564945 http://purl.obolibrary.org/obo/MONDO_0009752 neuropathy, painful MONDO:0010726 Rett syndrome biolink:Disease mondo GARD:0005696|UMLS:C0035372|DOID:1206|MESH:D015518|ICD10:F84.2|NCIT:C75488|SCTID:68618008|OMIM:312750|MedDRA:10039000|ICD9:330.8|Orphanet:778 Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system. MESH:D015518|http://identifiers.org/omim/312750|SNOMEDCT:68618008|NCIT:C75488|ORPHA:778|UMLS:C0035372|MEDDRA:10039000|DOID:1206 http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome, atypical|Rett syndrome, preserved speech variant|Rett's disorder|Rts|Rett syndrome; RTT|cerebroatrophic hyperammonemia|Rett syndrome|autism, dementia, ataxia, and loss of purposeful hand use|Rett syndrome, Zappella variant|RTT ordo_disease MONDO:0009751 neuropathy, hereditary sensory, atypical biolink:Disease mondo UMLS:C1850384|OMIM:256860|DOID:0070160|MESH:C564946 A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. UMLS:C1850384|http://identifiers.org/omim/256860|MESH:C564946|DOID:0070160 http://purl.obolibrary.org/obo/MONDO_0009751 neuropathy, hereditary sensory, atypical|atypical hereditary sensory neuropathy MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive biolink:Disease mondo UMLS:C1850385|MESH:C564947|OMIM:256855 UMLS:C1850385|http://identifiers.org/omim/256855|MESH:C564947 http://purl.obolibrary.org/obo/MONDO_0009750 Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive|neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive|HMSN with excessive myelin Outfolding, autosomal recessive MONDO:0010729 X-linked intellectual disability, Schimke type biolink:Disease mondo UMLS:C1839320|GARD:0009288|OMIM:312840|ICD10:Q87.8|Orphanet:85285|SCTID:719010001|MESH:C536630 X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. http://identifiers.org/omim/312840|SNOMEDCT:719010001|ORPHA:85285|UMLS:C1839320|MESH:C536630 http://purl.obolibrary.org/obo/MONDO_0010729 choreoathetosis with intellectual disability, X-linked|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness|choreoathetosis with intellectual disability X- linked|progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness|choreoathetosis with mental retardation, X-linked|Schimke X-linked intellectual disability syndrome|Schimke X-linked mental retardation syndrome|choreoathetosis with mental retardation X- linked|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness ordo_malformation_syndrome MONDO:0010728 scarf syndrome biolink:Disease mondo OMIM:312830|MESH:C536625|Orphanet:3134|GARD:0000247|SCTID:734173003|UMLS:C1839321|ICD10:Q82.8 SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. ORPHA:3134|http://identifiers.org/omim/312830|UMLS:C1839321|SNOMEDCT:734173003|MESH:C536625 http://purl.obolibrary.org/obo/MONDO_0010728 scarf syndrome|skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities ordo_malformation_syndrome CHEBI:33906 cobalt corrinoid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoids|cobalt-corrinoids RO:0002418 causally upstream of or within biolink:OntologyClass mondo p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q. http://purl.obolibrary.org/obo/RO_0002418 affects MONDO:0010730 combined immunodeficiency, X-linked biolink:Disease mondo OMIM:312863 http://identifiers.org/omim/312863 http://purl.obolibrary.org/obo/MONDO_0010730 immunodeficiency 6|Xcid|combined immunodeficiency, X-linked|combined immunodeficiency, X-linked; CIDX|CIDX RO:0002411 causally upstream of biolink:OntologyClass mondo p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain http://purl.obolibrary.org/obo/RO_0002411 RO:0002412 immediately causally upstream of biolink:OntologyClass mondo p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q. http://purl.obolibrary.org/obo/RO_0002412 MONDO:0010732 spastic paraparesis-deafness syndrome biolink:Disease mondo SCTID:715504003|UMLS:C2931291|Orphanet:2815|OMIM:312910|ICD10:G11.4|GARD:0005555|MESH:C536692 Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits. SNOMEDCT:715504003|http://identifiers.org/omim/312910|ORPHA:2815|MESH:C536692|UMLS:C2931291 http://purl.obolibrary.org/obo/MONDO_0010732 spastic paraparesis - deafness|spastic paraparesis and deafness|familial spastic paraparesis and deafness|Wells-Jankovic syndrome ordo_malformation_syndrome MONDO:0010731 Simpson-Golabi-Behmel syndrome biolink:Disease mondo ICD10:Q87.3|GARD:0007649|Orphanet:373|MESH:C537340|ICD9:759.89|NCIT:C131002|SCTID:439143004 Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. http://identifiers.org/omim/312870|MESH:C537340|ORPHA:373|NCIT:C131002|SNOMEDCT:439143004 http://purl.obolibrary.org/obo/MONDO_0010731 Golabi-Rosen syndrome|SDYS|Sgbs|DGSX|SGB syndrome|Sara Angers syndrome|SGBS|dysplasia gigantism syndrome, X-linked|X-linked dysplasia gigantism syndrome ordo_malformation_syndrome|gard_rare HGNC:30213 ATP13A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30213 MONDO:0022781 cleft lip palate-tetraphocomelia biolink:Disease mondo GARD:0001383 http://purl.obolibrary.org/obo/MONDO_0022781 gard_rare MONDO:0022782 cleft lower lip cleft lateral canthi chorioretinal biolink:Disease mondo GARD:0001386 http://purl.obolibrary.org/obo/MONDO_0022782 gard_rare MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome biolink:Disease mondo UMLS:CN227577|Orphanet:73230|ICD10:Q79.8 Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification. UMLS:CN227577|ORPHA:73230 http://purl.obolibrary.org/obo/MONDO_0019131 ordo_disease MONDO:0019130 tubular renal disease-cardiomyopathy syndrome biolink:Disease mondo UMLS:CN205654|ICD10:N25.8|Orphanet:73224 Tubular renal disease-cardiomyopathy syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. UMLS:CN205654|ORPHA:73224 http://purl.obolibrary.org/obo/MONDO_0019130 ordo_disease MONDO:0022785 cleft palate cardiac defect ectrodactyly biolink:Disease mondo GARD:0001387 http://purl.obolibrary.org/obo/MONDO_0022785 gard_rare MONDO:0022786 cleft palate colobomata radial synostosis deafness biolink:Disease mondo GARD:0001388 http://purl.obolibrary.org/obo/MONDO_0022786 gard_rare MONDO:0022787 cleft palate heart disease polydactyly absent tibia biolink:Disease mondo GARD:0001389 http://purl.obolibrary.org/obo/MONDO_0022787 gard_rare MONDO:0007148 appendicitis, proneness to biolink:Disease mondo OMIM:107700 http://identifiers.org/omim/107700 http://purl.obolibrary.org/obo/MONDO_0007148 appendicitis, susceptibility|appendicitis, proneness to MONDO:0020126 obsolete rare peripheral neuropathy biolink:Disease mondo Orphanet:98496 Rare peripheral neuropathy. ORPHA:98496 http://purl.obolibrary.org/obo/MONDO_0020126 rare peripheral neuropathy ordo_group_of_disorders|obsoletion_candidate HGNC:29203 TBC1D24 biolink:OntologyClass mondo http://identifiers.org/hgnc/29203 MONDO:0020125 acquired neuromuscular junction disease biolink:Disease mondo UMLS:CN207015|Orphanet:98494 An instance of neuromuscular junction disease that is acquired during the lifetime of the individual. ORPHA:98494|UMLS:CN207015 http://purl.obolibrary.org/obo/MONDO_0020125 acquired neuromuscular junction disease ordo_group_of_disorders MONDO:0010799 aminoglycoside-induced deafness biolink:Disease mondo OMIM:580000|MESH:C564013|UMLS:C1838854|Orphanet:168609 UMLS:C1838854|ORPHA:168609|http://identifiers.org/omim/580000|MESH:C564013 http://purl.obolibrary.org/obo/MONDO_0010799 deafness, aminoglycoside-induced|streptomycin ototoxicity|deafness, streptomycin-induced|mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure ordo_etiological_subtype|predisposition MONDO:0007149 obsolete arbitrary restriction polymorphism 1 biolink:Disease mondo UMLS:C1862555|OMIM:107750 http://identifiers.org/omim/107750|UMLS:C1862555 http://purl.obolibrary.org/obo/MONDO_0007149 restriction fragment length polymorphism 14A|Arp-14A|anonymous restriction polymorphism 1|arbitrary restriction polymorphism 1|arbitrary restriction polymorphism type 1|Rflp-14A MONDO:0007146 obsolete apnea, central sleep biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007146 HGNC:29205 ERGIC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29205 MONDO:0020124 neuromuscular junction disease biolink:Disease mondo UMLS:C0751950|ICD10:G70.9|ICD10:G70.8|Orphanet:98491|ICD10:G70.2|ICD10:G70.1|DOID:439|MESH:D020511|SCTID:128213006|ICD10:G70.0 Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. MESH:D020511|ORPHA:98491|DOID:439|SNOMEDCT:128213006|UMLS:C0751950 http://purl.obolibrary.org/obo/MONDO_0020124 ordo_group_of_disorders MONDO:0007147 obstructive sleep apnea syndrome biolink:Disease mondo ICD9:327.23|UMLS:C0520679|SCTID:78275009|ICD10:G47.33|NCIT:C27168|MESH:D020181|ICD10:G47.3|EFO:0003918|ICD9:780.57|DOID:0050848|ICD10:G47.30|HP:0002870|OMIM:107650 Cessation of air flow during sleep due to upper airway obstruction. NCIT:C116337|http://identifiers.org/omim/107650|DOID:0050848|NCIT:C27168|MESH:D020181|NCIT:C26884|UMLS:C0520679|SNOMEDCT:78275009 http://purl.obolibrary.org/obo/MONDO_0007147 apnea, obstructive sleep|OSAHS|obstructive sleep apnea syndrome|obstructive sleep Apneas|Osa|syndrome, sleep apnea, obstructive|sleep apnea syndrome, obstructive|syndrome, obstructive sleep apnea|obstructive sleep apnea|syndrome, upper airway resistance, sleep apnea|sleep apnea/hypopnea syndrome|Apneas, obstructive sleep|sleep Apneas, obstructive|upper airway resistance sleep apnea syndrome|sleep apnea hypopnea syndrome MONDO:0020123 metabolic myopathy biolink:Disease mondo Orphanet:98486|MedDRA:10068836|NCIT:C98985|UMLS:C0270984|SCTID:26111005|ICD9:359.89 A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. NCIT:C98985|SNOMEDCT:26111005|MEDDRA:10068836|ORPHA:98486|UMLS:C0270984 http://purl.obolibrary.org/obo/MONDO_0020123 ordo_group_of_disorders RO:0002410 causally related to biolink:OntologyClass mondo This relation groups causal relations between material entities and causal relations between processes http://purl.obolibrary.org/obo/RO_0002410 MONDO:0020122 idiopathic inflammatory myopathy biolink:Disease mondo Orphanet:98482|SCTID:702380008|NCIT:C116796|GARD:0009128|ICD9:359.79|UMLS:C0751356 An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. SNOMEDCT:702380008|ORPHA:98482|UMLS:C0751356|NCIT:C116796 http://purl.obolibrary.org/obo/MONDO_0020122 IIm|idiopathic inflammatory myopathy, familial|IMM|idiopathic inflammatory myositis|idiopathic inflammatory myopathies ordo_group_of_disorders MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma biolink:Disease mondo OMIM:107550|UMLS:C1862681|MESH:C566271 http://identifiers.org/omim/107550|UMLS:C1862681|MESH:C566271 http://purl.obolibrary.org/obo/MONDO_0007144 aortic arch interruption, facial palsy, and retinal coloboma MONDO:0007145 aplasia cutis congenita (disease) biolink:Disease mondo ICD9:757.39|GARD:0005835|Orphanet:1114|NCIT:C98822|HP:0001057|ICD10:Q84.8|SCTID:35484002|OMIM:107600|GARD:0000755 Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies. http://identifiers.org/omim/107600|NCIT:C98822|SNOMEDCT:35484002|ORPHA:1114 http://purl.obolibrary.org/obo/MONDO_0007145 aplasia cutis congenita, nonsyndromic|scalp defect congenital|aplasia cutis congenita nonsyndromic|scalp defect, congenital|congenital defect of skull and scalp|ACC|aplasia cutis congenita recessive|aplasia cutis congenita|aplasia cutis congenita, nonsyndromic; ACC ordo_malformation_syndrome|gard_rare MONDO:0020121 muscular dystrophy biolink:Disease mondo ICD10:G71.0|DOID:9884|SCTID:73297009|Orphanet:98473|UMLS:C0026850|ICD9:359.1|COHD:4247802|MedDRA:10028356|GARD:0007922|NCIT:C84910|MESH:D009136 Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. DOID:9884|NCIT:C84910|SNOMEDCT:73297009|MESH:D009136|ORPHA:98473|UMLS:C0026850|MEDDRA:10028356 http://purl.obolibrary.org/obo/MONDO_0020121 ordo_group_of_disorders|gard_rare MONDO:0007142 Townes-Brocks syndrome biolink:Disease mondo NCIT:C99085|ICD10:Q87.8|ICD9:759.89|GARD:0007784|UMLS:CN034849|SCTID:24750000|OMIMPS:107480|Orphanet:857|DOID:0050887|UMLS:C0265246|MESH:C536974 Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. http://identifiers.org/omim/107480|SNOMEDCT:24750000|ORPHA:857|NCIT:C99085|DOID:0050887|MESH:C536974|UMLS:CN034849|UMLS:C0265246 http://purl.obolibrary.org/obo/MONDO_0007142 sensorineural deafness with imperforate anus and hypoplastic thumbs|TBS|imperforate anus with hand, foot and ear anomalies|Townes syndrome|renal-Ear-anal-radial syndrome|TBS1|Townes-Brocks syndrome 1; TBS1|Townes-Brocks syndrome 1|Townes-Brocks syndrome; TBS|Townes-Brocks syndrome|rear syndrome|anus, imperforate, with hand, foot, and Ear anomalies|Townes-Brocks-branchiootorenal-like syndrome|renal-ear-anal-radial syndrome|deafness, sensorineural, with imperforate anus and hypoplastic thumbs|deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot and ear anomalies prototype_pattern|ordo_malformation_syndrome|gard_rare MONDO:0020120 skeletal muscle disease biolink:Disease mondo Orphanet:98472|SCTID:75047002|MedDRA:10028641|UMLS:C1533847 A disease involving the skeletal muscle tissue. SNOMEDCT:75047002|UMLS:C1533847|MESH:D009135|ORPHA:98472|MEDDRA:10028641 http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle tissue disease or disorder|disorder of skeletal muscle tissue|disease of skeletal muscle tissue|disease or disorder of skeletal muscle tissue|disorder of skeletal muscle tissue|skeletal muscle tissue disease ordo_group_of_disorders MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome biolink:Disease mondo MESH:C537785|ICD10:Q87.8|Orphanet:1110|UMLS:C1862682|OMIM:107500|GARD:0000739 Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. MESH:C537785|http://identifiers.org/omim/107500|UMLS:C1862682|ORPHA:1110 http://purl.obolibrary.org/obo/MONDO_0007143 familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism|aortic arch anomaly - peculiar facies - intellectual disability|aortic arch anomaly with peculiar facies and intellectual disability|aortic arch anomaly-peculiar facies-intellectual disability syndrome|aortic arch anomaly with peculiar facies and mental retardation ordo_malformation_syndrome MONDO:0022780 cleft lip palate pituitary deficiency biolink:Disease mondo GARD:0001382 http://purl.obolibrary.org/obo/MONDO_0022780 gard_rare MONDO:0007140 antiphospholipid syndrome biolink:Disease mondo NCIT:C61283|ICD10:D68.61|OMIM:107320|SCTID:26843008|DOID:2988|ICD9:279.49|UMLS:C0085278|MESH:D016736|GARD:0005824 A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. NCIT:C61283|DOID:2988|MESH:D016736|UMLS:C0085278|SNOMEDCT:26843008|http://identifiers.org/omim/107320 http://purl.obolibrary.org/obo/MONDO_0007140 antiphospholipid syndrome, familial|Hughes syndrome|antiphospholipid antibody syndrome|antiphospholipid syndrome|familial antiphospholipid syndrome|lupus anticoagulant, familial RO:0002404 causally downstream of biolink:OntologyClass mondo inverse of upstream of http://purl.obolibrary.org/obo/RO_0002404 MONDO:0007141 antiviral state repressor, regulator of biolink:Disease mondo OMIM:107440 http://identifiers.org/omim/107440 http://purl.obolibrary.org/obo/MONDO_0007141 antiviral STATE repressor, regulator OF; AVRR|AVRR|antiviral state repressor, regulator of RO:0002405 immediately causally downstream of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002405 MONDO:0020119 X-linked syndromic intellectual disability biolink:Disease mondo Orphanet:98464|DOID:0060309|OMIMPS:309510 A syndromic intellectual disability with an X-linked mode of inheritance. DOID:0060309|ORPHA:98464 http://purl.obolibrary.org/obo/MONDO_0020119 syndromic X-linked intellectual disability|syndromic X-linked mental retardation|mental retardation, X-linked syndromic|syndromic intellectual disability, X-linked|intellectual disability, X-linked syndromic ordo_group_of_disorders GO:0042446 hormone biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. http://purl.obolibrary.org/obo/GO_0042446 hormone formation|hormone anabolism|hormone synthesis|hormone biosynthesis HGNC:17228 RAD54B biolink:OntologyClass mondo http://identifiers.org/hgnc/17228 MONDO:0020118 dense granule disease biolink:Disease mondo ICD10:D69.1|Orphanet:98456|UMLS:CN207010 ORPHA:98456|UMLS:CN207010 http://purl.obolibrary.org/obo/MONDO_0020118 Delta granule disease ordo_group_of_disorders GO:0042445 hormone metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. http://purl.obolibrary.org/obo/GO_0042445 hormone metabolism MONDO:0020117 alpha granule disease biolink:Disease mondo Orphanet:98455|UMLS:CN207009|ICD10:D69.1 ORPHA:98455|UMLS:CN207009 http://purl.obolibrary.org/obo/MONDO_0020117 ordo_group_of_disorders NCBITaxon:39030 Apodemus agrarius organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus pratensis|Old World field mouse|striped field mouse|Eurasian field mouse MONDO:0020116 obsolete rare blood coagulation disease biolink:Disease mondo Orphanet:98429 Any of the forms of blood coagulation disease that have a rare incidence. ORPHA:98429 http://purl.obolibrary.org/obo/MONDO_0020116 rare blood coagulation disease|rare coagulation disorder ordo_group_of_disorders|obsoletion_candidate MONDO:0019137 non-24-hour sleep-wake syndrome biolink:Disease mondo ICD10:G47.24|GARD:0010949|Orphanet:73267|ICD10:G47.2|SCTID:230496009 Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations. SNOMEDCT:230496009|ORPHA:73267 http://purl.obolibrary.org/obo/MONDO_0019137 hypernychthemeral syndrome|circadian rhythm sleep disorder, free running type|non 24 hour sleep wake disorder|circadian rhythm sleep disorder, free-running type|non-24 ordo_disease MONDO:0022778 cleft lip palate mental retardation corneal opacity biolink:Disease mondo GARD:0001380 http://purl.obolibrary.org/obo/MONDO_0022778 gard_rare MONDO:0019136 Zygomycosis biolink:Disease mondo MedDRA:10061418|GARD:0010224|ICD10:B46.9|ICD10:B46.8|COHD:432830|ICD10:B46|ICD10:B46.5|UMLS:C0043541|SCTID:59277005|ICD10:B46.4|ICD10:B46.3|DOID:8485|MESH:D009091|Orphanet:73263|SCTID:76627001|MedDRA:10028098|ICD10:B46.2|ICD10:B46.1|ICD10:B46.0|ICD9:117.7|NCIT:C77212|MESH:D020096|EFO:0007380 Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue. UMLS:C0026718|SNOMEDCT:59277005|MEDDRA:10028098|MEDDRA:10061418|SNOMEDCT:76627001|MESH:D020096|DOID:8485|NCIT:C77212|MESH:D009091|ORPHA:73263|UMLS:C0043541 http://purl.obolibrary.org/obo/MONDO_0019136 Zygomycota infectious disease|mucormycosis gard_rare|ordo_disease MONDO:0022779 cleft lip palate oligodontia syndactyly pili torti biolink:Disease mondo GARD:0001381 http://purl.obolibrary.org/obo/MONDO_0022779 gard_rare MONDO:0019139 acquired hemophilia biolink:Disease mondo GARD:0010350|UMLS:C1096116|MedDRA:10053745|Orphanet:73274|ICD10:D68.4|MESH:C536392|ICD10:D68.311 Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes. ORPHA:73274|MEDDRA:10053745|MESH:C536392|UMLS:C1096116 http://purl.obolibrary.org/obo/MONDO_0019139 hemophilia, acquired|acquired hemophilia|acquired haemophilia ordo_disease MONDO:0019138 bleeding diathesis due to a collagen receptor defect biolink:Disease mondo ICD10:D69.8|Orphanet:73271 ORPHA:73271 http://purl.obolibrary.org/obo/MONDO_0019138 ordo_disease MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome biolink:Disease mondo Orphanet:73246|ICD10:Q87.8|UMLS:CN205657 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO). UMLS:CN205657|ORPHA:73246 http://purl.obolibrary.org/obo/MONDO_0019133 ordo_malformation_syndrome MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome biolink:Disease mondo Orphanet:73245|ICD10:G12.8|UMLS:CN205656 UMLS:CN205656|ORPHA:73245 http://purl.obolibrary.org/obo/MONDO_0019132 ordo_malformation_syndrome MONDO:0019135 obsolete paracoccidioidomycosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019135 MONDO:0019134 central neurocytoma biolink:Disease mondo GARD:0010641|NCIT:C3791|Orphanet:73256|MESH:D018306|EFO:1000856|ICDO:9506/1|UMLS:C0206719|DOID:14174|ONCOTREE:CNC Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good. UMLS:C0206719|MESH:D018306|NCIT:C3791|ORPHA:73256|DOID:14174 http://purl.obolibrary.org/obo/MONDO_0019134 central neurocytoma (WHO grade II)|Neurolipocytoma|CNC gard_rare|ordo_disease HP:0100699 Scarring biolink:PhenotypicFeature mondo SNOMEDCT_US:48677004|UMLS:C0008767|MSH:D002921 http://purl.obolibrary.org/obo/HP_0100699 Scarring|Scar tissue MONDO:0022770 circumscribed cutaneous aplasia of the vertex biolink:Disease mondo GARD:0001365 http://purl.obolibrary.org/obo/MONDO_0022770 gard_rare MONDO:0022771 circumscribed disseminated keratosis Jadassohn lew type biolink:Disease mondo GARD:0001366 http://purl.obolibrary.org/obo/MONDO_0022771 gard_rare MONDO:0022772 classic Kaposi sarcoma biolink:Disease mondo UMLS:C0279084|NCIT:C9112 A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation. UMLS:C0279084|NCIT:C9112 http://purl.obolibrary.org/obo/MONDO_0022772 classic Kaposi's sarcoma|Kaposi sarcoma, classic|Kaposi sarcoma classical type|classic Kaposi sarcoma|Kaposi's sarcoma, classical type MONDO:0019120 pili bifurcati biolink:Disease mondo Orphanet:720|ICD10:L67.8|SCTID:717360009 Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle. ORPHA:720|SNOMEDCT:717360009 http://purl.obolibrary.org/obo/MONDO_0019120 ordo_disease MONDO:0022775 cleft lip and palate malrotation cardiopathy biolink:Disease mondo GARD:0001371 http://purl.obolibrary.org/obo/MONDO_0022775 gard_rare MONDO:0022776 cleft lip and/or palate with mucous cysts of lower biolink:Disease mondo GARD:0001372 http://purl.obolibrary.org/obo/MONDO_0022776 gard_rare MONDO:0022777 cleft lip palate dysmorphism kumar type biolink:Disease mondo GARD:0001375 http://purl.obolibrary.org/obo/MONDO_0022777 gard_rare MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome biolink:Disease mondo OMIM:108200|MESH:C535386|Orphanet:1144|GARD:0000784|UMLS:C1862471|SCTID:720515009|ICD10:Q68.8 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. MESH:C535386|UMLS:C1862471|http://identifiers.org/omim/108200|ORPHA:1144|SNOMEDCT:720515009 http://purl.obolibrary.org/obo/MONDO_0007159 arthrogryposis-like hand anomaly and sensorineural deafness|distal arthrogryposis type 6|DA6|familial hand abnormality and sensori-neural deafness|arthrogryposis, distal, type 6; DA6|arthrogryposis and sensorineural deafness|arthrogryposis, distal, type 6 ordo_malformation_syndrome MONDO:0010789 MELAS syndrome biolink:Disease mondo GARD:0007009|OMIM:540000|SCTID:39925003|ICD10:E88.41|MedDRA:10053872|UMLS:C0162671|ICD9:277.87|ICD10:G71.3|MESH:D017241|NCIT:C84885|DOID:3687|Orphanet:550 MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations. DOID:3687|MESH:D017241|http://identifiers.org/omim/540000|NCIT:C84885|MEDDRA:10053872|SNOMEDCT:39925003|UMLS:C0162671|ORPHA:550 http://purl.obolibrary.org/obo/MONDO_0010789 mitochondrial encephalomyopathy, lactic acidosis and stroke|MELAS syndrome|mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; MELAS|mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes|MELAS ordo_disease MONDO:0020115 secondary polycythemia biolink:Disease mondo UMLS:C1318533|MedDRA:10036062|COHD:435790|Orphanet:98428|ICD10:D75.1|NCIT:C27178 Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia). NCIT:C27178|UMLS:C1318533|MEDDRA:10036062|ORPHA:98428 http://purl.obolibrary.org/obo/MONDO_0020115 secondary erythrocytosis|secondary polycythemia ordo_group_of_disorders MONDO:0010788 Leber hereditary optic neuropathy biolink:Disease mondo NCIT:C84808|Orphanet:104|OMIM:535000|ICD10:H47.2|DOID:705|MESH:D029242|GARD:0006870|UMLS:C0917796|ICD10:H47.22|SCTID:58610003 Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. MESH:D029242|SNOMEDCT:58610003|NCIT:C84808|http://identifiers.org/omim/535000|ORPHA:104|DOID:705|UMLS:C0917796 http://purl.obolibrary.org/obo/MONDO_0010788 Leber’s disease|Leber's hereditary optic neuropathy|Leber's optic atrophy|Leber hereditary optic neuropathy|Leber Hereditary optic atrophy|LHON|optic atrophy, Leber type|Leber optic atrophy ordo_disease MONDO:0020114 obsolete polycythemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020114 HGNC:29215 SHROOM4 biolink:OntologyClass mondo http://identifiers.org/hgnc/29215 HGNC:29216 ARHGAP31 biolink:OntologyClass mondo http://identifiers.org/hgnc/29216 MONDO:0020113 red cell aplasia biolink:Disease mondo Orphanet:98421|MedDRA:10038184|ICD10:D60.9|ICD10:D60.8|ICD10:D60.1|ICD10:D60.0 UMLS:C0281963|MEDDRA:10038184|ORPHA:98421 http://purl.obolibrary.org/obo/MONDO_0020113 ordo_group_of_disorders MONDO:0007157 arthrogryposis, distal, type 1A biolink:Disease mondo OMIM:108120 http://identifiers.org/omim/108120 http://purl.obolibrary.org/obo/MONDO_0007157 AMC|arthrogryposis, distal, type 1A|arthrogryposis, distal, type 1A|arthrogryposis multiplex congenita|arthrogryposis, distal, type 1|arthrogryposis multiplex congenita, distal, type 1|DA1A MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome biolink:Disease mondo Orphanet:1154|OMIM:108145|UMLS:C1862472|GARD:0004047|SCTID:715217004|ICD10:Q68.8 Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal. SNOMEDCT:715217004|UMLS:C1862472|http://identifiers.org/omim/108145|ORPHA:1154 http://purl.obolibrary.org/obo/MONDO_0007158 arthrogryposis, distal, type 5|distal arthrogryposis type 5|distal arthrogryposis with ophthalmoplegia|arthrogryposis with oculomotor limitation and electroretinal abnormalities|distal arthrogryposis type IIB|DA5|Arthogryposis with oculomotor limitation and electroretinal abnormalities|arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome|arthrogryposis, distal, type 2B|arthrogryposis ophthalmoplegia retinopathy|oculomelic amyoplasia|arthrogryposis, distal, type 5; DA5|arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome ordo_malformation_syndrome|gard_rare MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia biolink:Disease mondo ICD10:D53.2|ICD10:D53.0|ICD10:D53.1|Orphanet:98415|ICD10:D53.9|ICD10:D53.8 ORPHA:98415 http://purl.obolibrary.org/obo/MONDO_0020112 ordo_group_of_disorders MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis biolink:Disease mondo MESH:C566253|OMIM:108050|UMLS:C1862510 UMLS:C1862510|http://identifiers.org/omim/108050|MESH:C566253 http://purl.obolibrary.org/obo/MONDO_0007155 arteritis, familial granulomatous, with juvenile polyarthritis MONDO:0020111 constitutional megaloblastic anemia due to folate metabolism disorder biolink:Disease mondo ICD10:D52.8|Orphanet:98408|UMLS:CN227786 UMLS:CN227786|ORPHA:98408 http://purl.obolibrary.org/obo/MONDO_0020111 ordo_group_of_disorders MONDO:0007156 arthritis, sacroiliac biolink:Disease mondo OMIM:108100|UMLS:C0748473|MESH:C563037 MESH:C563037|http://identifiers.org/omim/108100|UMLS:C0748473 http://purl.obolibrary.org/obo/MONDO_0007156 arthritis, sacroiliac MONDO:0020110 pulmonary agenesis biolink:Disease mondo SCTID:66489009|NCIT:C99028|ICD10:Q33.3|UMLS:C0265780|ICD9:748.5|GARD:0009119|MedDRA:10037322|Orphanet:984 An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. MEDDRA:10037322|SNOMEDCT:66489009|UMLS:C0265780|NCIT:C99028|ORPHA:984 http://purl.obolibrary.org/obo/MONDO_0020110 unilateral lobar pulmonary agenesis|unilateral lung agenesis|congenital lung agenesis|congenital absence of lung ordo_morphological_anomaly MONDO:0007153 arteries, anomalies of biolink:Disease mondo OMIM:108000 http://identifiers.org/omim/108000 http://purl.obolibrary.org/obo/MONDO_0007153 arteries, anomalies of MONDO:0007154 arteriovenous malformations of the brain biolink:Disease mondo Orphanet:46724|NCIT:C2936|SCTID:234142008|COHD:4121803|UMLS:C0007772|GARD:0003020|ICD10:Q28.2|DOID:0060688|MESH:D002538|OMIM:108010 Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures. UMLS:C0007772|SNOMEDCT:234142008|DOID:0060688|ORPHA:46724|MESH:D002538|http://identifiers.org/omim/108010|NCIT:C2936 http://purl.obolibrary.org/obo/MONDO_0007154 cerebral arteriovenous malformation|intracranial hemorrhage in brain arteriovenous malformations, susceptibility to|cerebral arteriovenous malformations|intracranial arteriovenous malformation|Bavm|arteriovenous malformations of the brain|intracranial AVM ordo_morphological_anomaly MONDO:0007151 arms, malformation of biolink:Disease mondo OMIM:107900|MESH:C566258 http://identifiers.org/omim/107900|MESH:C566258 http://purl.obolibrary.org/obo/MONDO_0007151 arms, malformation of MONDO:0010792 lethal infantile mitochondrial myopathy biolink:Disease mondo UMLS:C1838876|OMIM:551000|MESH:C564017|ICD10:G71.3|Orphanet:254857|SCTID:766251006 Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. http://identifiers.org/omim/551000|SNOMEDCT:766251006|MESH:C564017|ORPHA:254857|UMLS:C1838876 http://purl.obolibrary.org/obo/MONDO_0010792 mitochondrial myopathy, lethal, infantile|lethal infantile mitochondrial disease|LIMM|mitochondrial myopathy, lethal, infantile; LIMM|LIMD ordo_disease MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 biolink:Disease mondo UMLS:C1862511|ICD10:I42.8|ICD10:Q24.8|OMIM:107970|DOID:0110070 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene. http://identifiers.org/omim/107970|UMLS:C1862511|DOID:0110070 http://purl.obolibrary.org/obo/MONDO_0007152 TGFB3 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular cardiomyopathy 1|Uhl anomaly|arrhythmogenic right ventricular dysplasia, familial, type 1|ARVD1|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3|cardiomyopathy, right ventricular dilated|ARVC1|arrhythmogenic right ventricular dysplasia type 1|familial arrhythmogenic right ventricular dysplasia 1|arrhythmogenic right ventricular dysplasia, familial, 1; ARVD1|arrhythmogenic right ventricular dysplasia, familial, 1 MONDO:0010791 myoglobinuria, recurrent biolink:Disease mondo OMIM:550500|MESH:C564018|GARD:0003879 An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner. http://identifiers.org/omim/550500|MESH:C564018 http://purl.obolibrary.org/obo/MONDO_0010791 myoglobinuria, recurrent|myoglobinuria recurrent gard_rare MONDO:0010794 NARP syndrome biolink:Disease mondo OMIM:551500|MedDRA:10062940|MESH:C537396|UMLS:C1328349|GARD:0000262|ICD10:G31.8|Orphanet:644 Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. UMLS:C1328349|http://identifiers.org/omim/551500|MESH:C537396|ORPHA:644|MEDDRA:10062940 http://purl.obolibrary.org/obo/MONDO_0010794 NARP syndrome|NARP|neuropathy, ataxia, and retinitis pigmentosa|neuropathy-ataxia-retinitis pigmentosa syndrome|neuropathy ataxia retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome ordo_disease MONDO:0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder biolink:Disease mondo ICD10:D51.9|UMLS:CN227785|ICD10:D51.8|ICD10:D51.2|Orphanet:98396|ICD10:D51.3|ICD10:D51.1|ICD10:D51.0 ORPHA:98396|UMLS:CN227785 http://purl.obolibrary.org/obo/MONDO_0020109 ordo_group_of_disorders MONDO:0007150 arcus senilis biolink:Disease mondo DOID:11342|MedDRA:10003082|UMLS:C0003742|ICD10:H18.41|SCTID:231924000|MESH:D001112|OMIM:107800|EFO:1000818 A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera. SNOMEDCT:231924000|DOID:11342|UMLS:C0003742|MESH:D001112|http://identifiers.org/omim/107800 http://purl.obolibrary.org/obo/MONDO_0007150 corneal arcus|arcus corneae|arcus senilis|arcus of cornea MONDO:0010793 nephropathy, chronic tubulointerstitial biolink:Disease mondo OMIM:551200|MESH:C564016|UMLS:C1838875 http://identifiers.org/omim/551200|MESH:C564016|UMLS:C1838875 http://purl.obolibrary.org/obo/MONDO_0010793 nephropathy, chronic tubulointerstitial MONDO:0020108 autoimmune hemolytic anemia biolink:Disease mondo MedDRA:10002046|ICD9:283.0|COHD:441269|SCTID:413603009|EFO:1001264|ICD10:D59.1|NCIT:C34378|ICD10:D59.0|OMIM:205700|Orphanet:98375|DOID:718|GARD:0005870|UMLS:C0002880|MESH:D000744|CSP:0427-1178 Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia. NCIT:C34378|MESH:D000744|DOID:718|MEDDRA:10002046|SNOMEDCT:413603009|http://identifiers.org/omim/205700|UMLS:C0002880|ORPHA:98375 http://purl.obolibrary.org/obo/MONDO_0020108 autoimmune haemolytic anaemia|anemia, autoimmune hemolytic|immuno-hemolytic anemia|AIHA|idiopathic autoimmune hemolytic anemia|acquired autoimmune hemolytic anemia|autoimmune hemolytic anemia|anemia hemolytic autoimmune|AHA|familial auto-immune hemolytic anemia (subtype) ordo_group_of_disorders MONDO:0010796 Parkinson disease, mitochondrial biolink:Disease mondo UMLS:C1838867|OMIM:556500|MESH:C564015 MESH:C564015|http://identifiers.org/omim/556500|UMLS:C1838867 http://purl.obolibrary.org/obo/MONDO_0010796 Parkinson disease, mitochondrial MONDO:0020107 hemolytic anemia due to an erythrocyte nucleotide metabolism disorder biolink:Disease mondo UMLS:CN227784|Orphanet:98374|ICD10:D55.3 UMLS:CN227784|ORPHA:98374 http://purl.obolibrary.org/obo/MONDO_0020107 hemolytic anemia due to an erythroenzymopathy ordo_group_of_disorders MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome biolink:Disease mondo Orphanet:73223|ICD10:Q87.8|UMLS:CN227576|SCTID:717813005 This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies. UMLS:CN227576|ORPHA:73223|SNOMEDCT:717813005 http://purl.obolibrary.org/obo/MONDO_0019129 ordo_malformation_syndrome MONDO:0010795 oncocytic neoplasm biolink:Disease mondo NCIT:C7072|OMIM:553000|UMLS:C1378050 A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) http://identifiers.org/omim/553000|NCIT:C7072|UMLS:C1378050 http://purl.obolibrary.org/obo/MONDO_0010795 oncocytoma|oncocytic tumor|oncocytic neoplasm|oncocytoma, benign MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome biolink:Disease mondo Orphanet:3390|OMIM:560000|GARD:0004532|ICD10:Q87.8|UMLS:C3151959|MESH:C564014 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. ORPHA:3390|MESH:C564014|http://identifiers.org/omim/560000|UMLS:C3151959 http://purl.obolibrary.org/obo/MONDO_0010798 renal tubulopathy, diabetes mellitus, and cerebellar ataxia|renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA|proximal tubulopathy, diabetes mellitus and cerebellar ataxia ordo_disease MONDO:0020106 hemolytic anemia due to a disorder of glycolytic enzymes biolink:Disease mondo UMLS:CN227783|ICD10:D55.2|Orphanet:98372 UMLS:CN227783|ORPHA:98372 http://purl.obolibrary.org/obo/MONDO_0020106 ordo_group_of_disorders MONDO:0010797 Pearson syndrome biolink:Disease mondo MedDRA:10062941|UMLS:C0342784|ICD10:D64.0|SCTID:237985009|GARD:0007343|NCIT:C115326|ICD9:277.87|OMIM:557000|DOID:0060067|Orphanet:699 Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction. MEDDRA:10062941|SNOMEDCT:237985009|http://identifiers.org/omim/557000|ORPHA:699|NCIT:C115326|UMLS:C0342784|UMLS:C0342773|DOID:0060067 http://purl.obolibrary.org/obo/MONDO_0010797 Pearson's marrow/pancreas syndrome|Pearson's syndrome|Pearson marrow-pancreas syndrome|sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction|sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly) gard_rare|ordo_disease MONDO:0020105 hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies biolink:Disease mondo ICD10:D55.1|Orphanet:98370 ORPHA:98370 http://purl.obolibrary.org/obo/MONDO_0020105 ordo_group_of_disorders MONDO:0019126 intractable diarrhea of infancy biolink:Disease mondo Orphanet:73014 Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. ORPHA:73014 http://purl.obolibrary.org/obo/MONDO_0019126 IDI ordo_group_of_disorders HGNC:19899 ZFAT biolink:OntologyClass mondo http://identifiers.org/hgnc/19899 MONDO:0019125 relapsing polychondritis biolink:Disease mondo MESH:D011081|MedDRA:10038304|GARD:0007417|UMLS:C0032453|ICD9:733.99|DOID:2556|ICD10:M94.1|SCTID:72275000|Orphanet:728|EFO:1001148 Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. MESH:D011081|ORPHA:728|DOID:2556|SNOMEDCT:72275000|MEDDRA:10038304|UMLS:C0032453 http://purl.obolibrary.org/obo/MONDO_0019125 chronic atrophic polychondritis|chondromalacia, systemic|recurrent polychondritis gard_rare|ordo_disease MONDO:0022768 chronic polyradiculoneuritis biolink:Disease mondo GARD:0001355 http://purl.obolibrary.org/obo/MONDO_0022768 gard_rare MONDO:0019128 mullerian aplasia biolink:Disease mondo Orphanet:73217|SCTID:253828000|MESH:C537371 ORPHA:73217|MESH:C537371|SNOMEDCT:253828000|UMLS:C0431637 http://purl.obolibrary.org/obo/MONDO_0019128 Mullerian duct failure|aplasia of the Mullerian ducts|Müllerian duct failure|Müllerian aplasia|aplasia of the Müllerian ducts ordo_group_of_disorders MONDO:0022769 ciliary dyskinesia-bronchiectasis biolink:Disease mondo GARD:0001362 http://purl.obolibrary.org/obo/MONDO_0022769 gard_rare MONDO:0019127 polymyositis biolink:Disease mondo MedDRA:10036102|ICD10:M33.2|Orphanet:732|UMLS:C0085655|SCTID:31384009|GARD:0007425|ICD9:710.4|EFO:0003063|COHD:80800|Wikipedia:Polymyositis|MESH:D017285|NCIT:C26925 Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. UMLS:C0085655|SNOMEDCT:31384009|ORPHA:732|MESH:D017285|NCIT:C26925|MEDDRA:10036102 http://purl.obolibrary.org/obo/MONDO_0019127 PM|polymyositis ordo_disease MONDO:0019122 idiopathic acute eosinophilic pneumonia biolink:Disease mondo UMLS:C4518469|Orphanet:724|GARD:0000519|DOID:9503|ICD10:J82|SCTID:64936001|UMLS:CN227574|NCIT:C35301|GARD:0000107|UMLS:C0242459 Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection. ORPHA:724|DOID:9503|UMLS:C4518469|SNOMEDCT:64936001|UMLS:C0242459|UMLS:CN227574|NCIT:C35301 http://purl.obolibrary.org/obo/MONDO_0019122 Loeffler syndrome|Löffler syndrome|Loeffler's pneumonia|Loffler syndrome|pulmonary infiltrates with eosinophilia|IAEP|Loffler's syndrome gard_rare|ordo_disease MONDO:0019121 pneumocystosis biolink:Disease mondo EFO:0007448|Orphanet:723|ICD10:J17.3*|ICD9:136.3|GARD:0004386|SCTID:415125002|UMLS:C1535939|NCIT:C3334|MESH:D011020|ICD10:B59+|ICD10:B59|DOID:11339|COHD:438350 Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole. MESH:D011020|ORPHA:723|DOID:11339|UMLS:C1535939|NCIT:C3334|SNOMEDCT:415125002 http://purl.obolibrary.org/obo/MONDO_0019121 PCP|pulmonary pneumocystosis|Pneumocystis carinii pneumonia|Pneumocystis jirovecii pneumonia|pneumocystosis|Pneumocystis pneumonia|PJP|Pneumocystis|pneumocystosis pneumonia gard_rare|ordo_disease MONDO:0010790 MERRF syndrome biolink:Disease mondo DOID:310|Orphanet:551|UMLS:C0162672|GARD:0007144|ICD9:277.87|SCTID:68448003|ICD10:G71.3|ICD10:E88.42|NCIT:C84889|OMIM:545000|MESH:D017243|MedDRA:10069825 A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. NCIT:C84889|http://identifiers.org/omim/545000|DOID:310|SNOMEDCT:68448003|UMLS:C0162672|ORPHA:551|MESH:D017243|MEDDRA:10069825 http://purl.obolibrary.org/obo/MONDO_0010790 myoencephalopathy ragged-red fiber disease|myoclonic epilepsy associated with ragged-RED fibers|myoclonic epilepsy with ragged red fibers|myoclonic epilepsy associated with ragged-RED fibers; MERRF|Fukuhara syndrome|myoclonic epilepsy associated with ragged red fibers|MERRF syndrome|myoclonic epilepsy - ragged red fibers|MERRF|myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)|myoclonus with epilepsy and with ragged Red fibers|myoclonus epilepsy associated with ragged-red fibres|myoclonus epilepsy and ragged red fibers ordo_disease MONDO:0019124 microscopic polyangiitis biolink:Disease mondo NCIT:C70549|EFO:1000784|MESH:D055953|GARD:0003652|SCTID:239928004|Orphanet:727|UMLS:C2347126|ICD10:M31.7|MedDRA:10063344 Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. UMLS:C0343192|MESH:D055953|MEDDRA:10063344|ORPHA:727|SNOMEDCT:239928004|UMLS:C2347126|NCIT:C70549 http://purl.obolibrary.org/obo/MONDO_0019124 MPA|microscopic polyarteritis|Micropolyangiitis ordo_disease|gard_rare MONDO:0019123 continuous spikes and waves during sleep biolink:Disease mondo Orphanet:725|UMLS:CN205644|UMLS:C3806403|UMLS:CN181337|ICD10:F80.3 Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. ORPHA:725|UMLS:CN205644|UMLS:C3806403|UMLS:CN181337 http://purl.obolibrary.org/obo/MONDO_0019123 epileptic encephalopathy with continuous spike-and-wave during slow sleep|CSWS|continuous spikes and waves during slow-wave sleep|CSWSS syndrome ordo_disease HGNC:17233 ELMO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17233 MONDO:0022760 chromosome 22q deletion biolink:Disease mondo GARD:0008668 http://purl.obolibrary.org/obo/MONDO_0022760 deletion 22q|22q deletion|monosomy 22q|partial monosomy 22q|22q monosomy gard_rare NCBITaxon:40005 Yellow fever virus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_40005 Yellow fever viruses MONDO:0022761 chromosome 3 duplication syndrome biolink:Disease mondo MESH:C536803|UMLS:C2931333 UMLS:C2931333|MESH:C536803 http://purl.obolibrary.org/obo/MONDO_0022761 MONDO:0022762 chromosome 4 short arm deletion biolink:Disease mondo ICD10:Q93.3|MESH:C537637|GARD:0006090 MESH:C537637 http://purl.obolibrary.org/obo/MONDO_0022762 4p deletion|partial monosomy 4p|4p monosomy|monosomy 4p|deletion 4p|chromosome 4p deletion MONDO:0022765 chronic demyelinizing neuropathy with IgM monoclonal biolink:Disease mondo GARD:0001352 http://purl.obolibrary.org/obo/MONDO_0022765 gard_rare MONDO:0007128 annular erythema biolink:Disease mondo UMLS:C0234906|OMIM:106500|MESH:C562461|SCTID:200920000 SNOMEDCT:200920000|http://identifiers.org/omim/106500|UMLS:C0234906|MESH:C562461 http://purl.obolibrary.org/obo/MONDO_0007128 annular erythema MONDO:0007129 tooth agenesis, selective, 1 biolink:Disease mondo OMIM:106600 Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene. http://identifiers.org/omim/106600 http://purl.obolibrary.org/obo/MONDO_0007129 tooth agenesis, selective, type 1|tooth agenesis, selective, 1; STHAG1|second premolars and third molars, absence of|hypodontia/oligodontia 1|STHAG1|MSX1 tooth agenesis|tooth agenesis, selective, with orofacial cleft|tooth agenesis, selective, 1|tooth agenesis caused by mutation in MSX1|tooth agenesis, familial|hypodontia/oligodontia with orofacial cleft MONDO:0007126 spondyloarthropathy, susceptibility to, 1 biolink:Disease mondo OMIM:106300 Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene. http://identifiers.org/omim/106300 http://purl.obolibrary.org/obo/MONDO_0007126 Marie-Strumpell spondylitis|Bechterew syndrome|spondyloarthropathy, susceptibility to, type 1|spondyloarthropathy, susceptibility to, 1; SPDA1|SPDA1|ankylosing spondylitis, susceptibility to|HLA-B spondyloarthropathy, susceptibility to|spondyloarthropathy, susceptibility to caused by mutation in HLA-B|susceptibility to spondyloarthropathy 1|spondyloarthropathy, susceptibility to, 1 predisposition MONDO:0020104 rare constitutional hemolytic anemia due to an enzyme disorder biolink:Disease mondo Orphanet:98369|ICD10:D55.9|ICD10:D55.8|UMLS:CN227782|ICD10:D55.3|ICD10:D55.2|ICD10:D55.1|ICD10:D55.0 UMLS:CN227782|ORPHA:98369 http://purl.obolibrary.org/obo/MONDO_0020104 obsoletion_candidate|ordo_group_of_disorders MONDO:0010778 cyclic vomiting syndrome biolink:Disease mondo GARD:0006230|OMIM:500007 A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting. http://identifiers.org/omim/500007 http://purl.obolibrary.org/obo/MONDO_0010778 CVS|Cvs-plus|cyclic vomiting syndrome|cyclic vomiting syndrome with neuromuscular disease|cyclic vomiting syndrome; CVS|cyclic vomiting syndrome-plus MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to biolink:Disease mondo OMIM:258660 http://identifiers.org/omim/258660 http://purl.obolibrary.org/obo/MONDO_0009789 Naion, susceptibility to|nonarteritic anterior ischemic optic neuropathy, susceptibility to|optic neuropathy, anterior ischemic, susceptibility to|susceptibility to nonarteritic anterior ischemic optic neuropathy predisposition MONDO:0007127 diffuse idiopathic skeletal hyperostosis biolink:Disease mondo NCIT:C84671|OMIM:106400|UMLS:C0020498|SCTID:31487001|ICD10:M48.1|Orphanet:2206|GARD:0000842|DOID:6652|ICD9:733.99|EFO:0007236|COHD:77961|ICD9:721.6|MESH:D004057 This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. ORPHA:2206|DOID:6652|SNOMEDCT:31487001|http://identifiers.org/omim/106400|MESH:D004057|NCIT:C84671|UMLS:C0020498 http://purl.obolibrary.org/obo/MONDO_0007127 disseminated idiopathic skeletal hyperostosis|ankylosing vertebral hyperostosis|diffuse idiopathic skeletal hyperostosis|Forestier disease|ankylosing vertebral hyperostosis with tylosis|dish|Forestier's disease ordo_malformation_syndrome MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive biolink:Disease mondo OMIM:258650 http://identifiers.org/omim/258650 http://purl.obolibrary.org/obo/MONDO_0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive MONDO:0010777 cardiomyopathy, infantile hypertrophic biolink:Disease mondo UMLS:C2748884|OMIM:500006 UMLS:C2748884|http://identifiers.org/omim/500006 http://purl.obolibrary.org/obo/MONDO_0010777 MONDO:0020103 constitutional hemolytic anemia due to acanthocytosis biolink:Disease mondo Orphanet:98366|ICD10:E78.6 ORPHA:98366 http://purl.obolibrary.org/obo/MONDO_0020103 constitutional hemolytic anemia due to acanthocytic disorder ordo_group_of_disorders MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome biolink:Disease mondo MESH:C535847|SCTID:55821006|Orphanet:1071|OMIM:106260|GARD:0006571|DOID:0090119|ICD10:Q82.4|GARD:0004805 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. ORPHA:1071|http://identifiers.org/omim/106260|DOID:0090119|MESH:C535847|SNOMEDCT:55821006|UMLS:C1785148 http://purl.obolibrary.org/obo/MONDO_0007124 Rapp-Hodgkins syndrome|Aec syndrome|ankyloblepharon-ectodermal defects-cleft lip and palate syndrome|AEC syndrome|ankyloblepharon ectodermal defects cleft lip/palate|Seres-Santamaria Arimany Muniz syndrome|cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects|ankyloblepharon-ectodermal defects-cleft LIP/palate|hay-Wells syndrome ordo_malformation_syndrome|gard_rare MONDO:0009787 3-methylglutaconic aciduria type 3 biolink:Disease mondo OMIM:258501|MESH:C535311|UMLS:C0574084|DOID:0110004|ICD10:E71.1|Orphanet:67047|SCTID:297232009|GARD:0005663 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. http://identifiers.org/omim/258501|ORPHA:67047|DOID:0110004|MESH:C535311|SNOMEDCT:297232009|UMLS:C0574084 http://purl.obolibrary.org/obo/MONDO_0009787 optic atrophy, infantile, with chorea and spastic paraplegia|MGA3|autosomal recessive optic atrophy plus syndrome|3-methylglutaconic aciduria caused by mutation in OPA3|3-methylglutaconic aciduria, type III|optic atrophy 3, autosomal recessive|3-methylglutaconic aciduria, type 3|Iraqi-Jewish optic atrophy plus|OPA3, autosomal recessive|MGA, type 3|Costeff syndrome|autosomal recessive optic atrophy type 3|3-methylglutaconic aciduria type III|OPA3 3-methylglutaconic aciduria|MGA type III|Iraqi-Jewish 'optic atrophy plus'|optic atrophy plus syndrome|3-methylglutaconic aciduria, type III; MGCA3|Costeff optic atrophy syndrome|3-alpha methylglutaconic aciduria type III|Iraqi Jewish optic atrophy plus|MGCA3|optic atrophy infantile with chorea and spastic paraplegia|OPA3 defect|infantile optic atrophy with chorea and spastic paraplegia ordo_disease MONDO:0020102 hereditary stomatocytosis biolink:Disease mondo SCTID:14087004|Orphanet:98365|ICD10:D58.8|ICD9:282.8|UMLS:C1262483 SNOMEDCT:14087004|UMLS:C1262483|ORPHA:98365 http://purl.obolibrary.org/obo/MONDO_0020102 hereditary stomatocytic disease ordo_group_of_disorders MONDO:0020101 constitutional hemolytic anemia due to membrane defect biolink:Disease mondo SCTID:111575000|NCIT:C101218|Orphanet:98364|UMLS:CN227780 A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. NCIT:C101218|UMLS:CN227780|ORPHA:98364|SNOMEDCT:111575000 http://purl.obolibrary.org/obo/MONDO_0020101 hemolytic anemia due to membrane defect|anemia due to membrane defect|rare constitutional hemolytic anemia due to a red cell membrane anomaly|hemolytic anemia due to erythrocyte membrane defect ordo_group_of_disorders MONDO:0009786 optic atrophy 6 biolink:Disease mondo OMIM:258500|GARD:0010200|Orphanet:99012|MESH:C537127 http://identifiers.org/omim/258500|MESH:C537127|ORPHA:99012 http://purl.obolibrary.org/obo/MONDO_0009786 optic atrophy 6|optic atrophy, congenital or early infantile, autosomal recessive|OPA6|optic atrophy 6; OPA6 MONDO:0007125 ankyloglossia biolink:Disease mondo SCTID:67787004|OMIM:106280|ICD10:Q38.1|MESH:C562396|NCIT:C124538|ICD9:750.0|DOID:0060604 A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth. http://identifiers.org/omim/106280|DOID:0060604|MESH:C562396|SNOMEDCT:67787004|NCIT:C124538 http://purl.obolibrary.org/obo/MONDO_0007125 tongue-tie|FUSED to floor of mouth|ankyloglossia|'tongue-Tie' MONDO:0010779 mitochondrial non-syndromic sensorineural deafness biolink:Disease mondo GARD:0001709|OMIM:500008|Orphanet:90641|ICD10:H90.3 http://identifiers.org/omim/500008|ORPHA:90641 http://purl.obolibrary.org/obo/MONDO_0010779 mitochondrial non-syndromic neurosensory deafness|deafness, nonsyndromic sensorineural, mitochondrial|isolated mitochondrial neurosensory deafness|deafness, isolated, due to mitochondrial transmission|isolated mitochondrial sensorineural deafness ordo_etiological_subtype|gard_rare MONDO:0009785 opsismodysplasia biolink:Disease mondo OMIM:258480|MESH:C537122|ICD10:Q78.8|GARD:0004098|UMLS:C0432219|SCTID:254068007|Orphanet:2746 Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. http://identifiers.org/omim/258480|MESH:C537122|ORPHA:2746|UMLS:C0432219|SNOMEDCT:254068007 http://purl.obolibrary.org/obo/MONDO_0009785 opsismodysplasia|OPSISMODYSPLASIA; OPSMD|OPSMD ordo_disease|gard_rare MONDO:0007122 anisocoria (disease) biolink:Disease mondo MESH:D015875|ICD9:379.41|SCTID:13045009|HP:0009916|OMIM:106240|COHD:434374 Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease. MESH:D015875|SNOMEDCT:13045009|http://identifiers.org/omim/106240 http://purl.obolibrary.org/obo/MONDO_0007122 anisocoria MONDO:0020100 obsolete rare hemolytic anemia biolink:Disease mondo Orphanet:98363 Rare hemolytic anemia. ORPHA:98363 http://purl.obolibrary.org/obo/MONDO_0020100 rare hemolytic anemia ordo_group_of_disorders|obsoletion_candidate MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome biolink:Disease mondo SCTID:400952003|GARD:0000696|OMIM:106250|MESH:C536373|ICD10:Q87.0|UMLS:C1302999|Orphanet:1072 ORPHA:1072|MESH:C536373|http://identifiers.org/omim/106250|UMLS:C1302999|SNOMEDCT:400952003 http://purl.obolibrary.org/obo/MONDO_0007123 ankyloblepharon filiforme adnatum and cleft palate|ankyloblepharon filiforme congenitum|ankyloblepharon filiforme adnatum|ankyloblepharon filiforme adnatum and cleft palate; AFA|AFA|ankyloblepharon filiforme adnatum cleft palate|congenital filiform fusion of the eyelids with cleft palate and/or cleft lip ordo_malformation_syndrome MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria biolink:Disease mondo UMLS:C1850302|OMIM:258470|MESH:C564925 MESH:C564925|UMLS:C1850302|http://identifiers.org/omim/258470 http://purl.obolibrary.org/obo/MONDO_0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria MONDO:0007120 aniridia-absent patella syndrome biolink:Disease mondo OMIM:106220|GARD:0000685|Orphanet:1069|ICD10:Q87.8|MESH:C566281|UMLS:C1862868 Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. UMLS:C1862868|MESH:C566281|http://identifiers.org/omim/106220|ORPHA:1069 http://purl.obolibrary.org/obo/MONDO_0007120 familial syndrome of aniridia and absence of the patella|aniridia absent patella|aniridia and absent patella ordo_malformation_syndrome|gard_rare MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 biolink:Disease mondo UMLS:C4225153|OMIM:258450|GARD:0001191 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. UMLS:C4225153|http://identifiers.org/omim/258450 http://purl.obolibrary.org/obo/MONDO_0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; PEOB1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1|autosomal recessive progressive external ophthalmoplegia|cerebellar ataxia infantile with progressive external ophthalmoplegia|progressive external ophthalmoplegia with cerebellar ataxia infantile|POLG autosomal recessive progressive external ophthalmoplegia|PEOB1|arPEO|progressive external ophthalmoplegia, autosomal recessive 1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis biolink:Disease mondo OMIM:258400|MESH:C564927|UMLS:C1850314 MESH:C564927|UMLS:C1850314|http://identifiers.org/omim/258400 http://purl.obolibrary.org/obo/MONDO_0009782 ophthalmoplegia totalis with ptosis and miosis MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract biolink:Disease mondo OMIM:106230|MESH:C566280|UMLS:C1862867 UMLS:C1862867|MESH:C566280|http://identifiers.org/omim/106230 http://purl.obolibrary.org/obo/MONDO_0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract MONDO:0009781 Onychotrichodysplasia and neutropenia biolink:Disease mondo MESH:C537752|OMIM:258360|GARD:0010161|Orphanet:2739|UMLS:C1850316 MESH:C537752|UMLS:C1850316|http://identifiers.org/omim/258360|ORPHA:2739 http://purl.obolibrary.org/obo/MONDO_0009781 onycho-tricho-dysplasia-neutropenia syndrome|Onychotrichodysplasia and neutropenia gard_rare MONDO:0010781 ataxia and polyneuropathy, adult-onset biolink:Disease mondo UMLS:C1838916|OMIM:500010|MESH:C564020 MESH:C564020|UMLS:C1838916|http://identifiers.org/omim/500010 http://purl.obolibrary.org/obo/MONDO_0010781 MONDO:0009780 lethal omphalocele-cleft palate syndrome biolink:Disease mondo Orphanet:2736|GARD:0004079|SCTID:719408007|ICD10:Q87.8|MESH:C537747|OMIM:258320|UMLS:C1850317 Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition. MESH:C537747|SNOMEDCT:719408007|UMLS:C1850317|http://identifiers.org/omim/258320|ORPHA:2736 http://purl.obolibrary.org/obo/MONDO_0009780 cleft palate-omphalocele syndrome, lethal|omphalocele cleft palate syndrome lethal|omphalocele-cleft palate syndrome, lethal|Czeizel syndrome gard_rare|ordo_malformation_syndrome MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency biolink:Disease mondo ICD10:G71.3|Orphanet:254864|UMLS:C3151898|OMIM:500009 UMLS:C3151898|ORPHA:254864|http://identifiers.org/omim/500009 http://purl.obolibrary.org/obo/MONDO_0010780 MMIT|reversible infantile respiratory chain deficiency|reversible infantile cytochrome C oxidase deficiency|mitochondrial myopathy, infantile, transient; MMIT|infantile reversible cytochrome C oxidase deficiency myopathy|Cox deficiency myopathy, infantile, transient|benign COX deficiency|mitochondrial myopathy with reversible COX deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency|mitochondrial myopathy, infantile, transient|respiratory chain deficiency, infantile, transient|mitochondrial myopathy with reversible complex IV deficiency ordo_disease MONDO:0010783 Alzheimer disease, susceptibility to, mitochondrial biolink:Disease mondo OMIM:502500 http://identifiers.org/omim/502500 http://purl.obolibrary.org/obo/MONDO_0010783 Alzheimer disease, susceptibility to, mitochondrial predisposition MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 biolink:Disease mondo UMLS:C4225415|OMIM:500011 UMLS:C4225415|http://identifiers.org/omim/500011 http://purl.obolibrary.org/obo/MONDO_0010782 MLASA3|myopathy, lactic acidosis, and sideroblastic anemia 3; MLASA3|myopathy, lactic acidosis, and sideroblastic anemia 3|myopathy, lactic acidosis, and sideroblastic anemia type 3 MONDO:0019119 muscular channelopathy biolink:Disease mondo EFO:1001899|Orphanet:71864 A channelopathy that involves the muscle tissue. ORPHA:71864 http://purl.obolibrary.org/obo/MONDO_0019119 channelopathy of muscle tissue|muscle tissue channelopathy ordo_group_of_disorders MONDO:0010785 maternally-inherited diabetes and deafness biolink:Disease mondo GARD:0004003|UMLS:C0342289|UMLS:C4330695|Orphanet:225|ICD10:E13.8|OMIM:520000|NCIT:C131859|MESH:C536246|SCTID:237619009|ICD9:250.80 Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness. NCIT:C131859|UMLS:C4330695|SNOMEDCT:237619009|http://identifiers.org/omim/520000|ORPHA:225|MESH:C536246|UMLS:C0342289 http://purl.obolibrary.org/obo/MONDO_0010785 noninsulin-dependent diabetes mellitus with deafness|diabetes and deafness, maternally inherited|mitochondrial diabetes|MIDD|diabetes mellitus type II with deafness|diabetes mellitus, type II, with deafness|Ballinger Wallace syndrome|diabetes and deafness, maternally inherited; MIDD|diabetes-deafness syndrome, maternally Transmitted|maternally inherited diabetes and deafness|Niddm with deafness|Ballinger-Wallace syndrome ordo_disease|gard_rare MONDO:0019118 inherited retinal dystrophy biolink:Disease mondo MedDRA:10038857|MESH:D058499|COHD:377270|ICD9:362.75|SCTID:41799005|SCTID:314407005|Orphanet:71862|ICD10:H35.50|COHD:380395|ICD9:362.72|ICD9:362.7|HP:0000556|NCIT:C35194|DOID:8501|ICD10:H35.5|DOID:8500|NCIT:C35625|UMLS:C0154860|UMLS:C0854723|ICD9:362.70 An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. MEDDRA:10038857|NCIT:C35194|NCIT:C35625|UMLS:C0854723|ORPHA:71862|SNOMEDCT:41799005|MESH:D058499|UMLS:C0154860|DOID:8500|DOID:8501|SNOMEDCT:314407005 http://purl.obolibrary.org/obo/MONDO_0019118 fundus dystrophy|familial retinal dystrophy|retinal dystrophy|hereditary retinal degeneration|hereditary retinal dystrophy|genetic retinal dystrophy ordo_group_of_disorders MONDO:0010784 chloramphenicol toxicity biolink:Disease mondo OMIM:515000 http://identifiers.org/omim/515000 http://purl.obolibrary.org/obo/MONDO_0010784 anemia, chloramphenicol-induced|chloramphenicol resistance|chloramphenicol toxicity MONDO:0010787 Kearns-Sayre syndrome biolink:Disease mondo Orphanet:480|SCTID:25792000|COHD:81539|MedDRA:10048804|MESH:D007625|ICD10:H49.81|OMIM:530000|UMLS:C0022541|GARD:0006817|ICD10:H49.8|NCIT:C84798|DOID:12934 Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. http://identifiers.org/omim/530000|MESH:D007625|DOID:12934|UMLS:C0022541|NCIT:C84798|ORPHA:480|MEDDRA:10048804|SNOMEDCT:25792000 http://purl.obolibrary.org/obo/MONDO_0010787 Kearns-Sayre syndrome; KSS|CPEO with ragged-Red fibers|ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy|CPEO with ragged red fibers|chronic progressive external ophthalmoplegia with myopathy|CPEO with myopathy|ophthalmoplegia, progressive external, with ragged-Red fibers|ophthalmoplegia plus syndrome|ophthalmoplegia, progressive external, with ragged red fibers|Kearns-Sayre syndrome|mitochondrial Cytopathy|KSS|oculocraniosomatic syndrome|ophthalmoplegia-plus syndrome gard_rare|ordo_disease MONDO:0010786 chronic diarrhea with villous atrophy biolink:Disease mondo ICD10:K59.1|OMIM:520100|MESH:C564019|Orphanet:1670|UMLS:C1838912 Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. UMLS:C1838912|http://identifiers.org/omim/520100|ORPHA:1670|MESH:C564019 http://purl.obolibrary.org/obo/MONDO_0010786 diarrhea, chronic, with villous atrophy ordo_disease HGNC:19869 SCARF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19869 HGNC:17208 BICD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17208 MONDO:0019115 obesity due to melanocortin 4 receptor deficiency biolink:Disease mondo UMLS:C4273958|SCTID:717269008|Orphanet:71529|ICD10:E66.8 Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. SNOMEDCT:717269008|UMLS:C4273958|ORPHA:71529 http://purl.obolibrary.org/obo/MONDO_0019115 MC4R deficiency ordo_malformation_syndrome MONDO:0022756 chromosome 1q deletion biolink:Disease mondo UMLS:CN072190|GARD:0008669 Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. UMLS:CN072190 http://purl.obolibrary.org/obo/MONDO_0022756 partial monosomy 1q|monosomy 1q|deletion 1q|1q deletion|1q monosomy gard_rare MONDO:0022757 chromosome 20 trisomy biolink:Disease mondo NCIT:C36397|GARD:0005332|MESH:C535372|UMLS:C0265479 Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization. UMLS:C0265479|MESH:C535372|NCIT:C36397 http://purl.obolibrary.org/obo/MONDO_0022757 mosaic trisomy 20|trisomy 20|trisomy chromosome 20|trisomy 20 mosaicism gard_rare MONDO:0019114 psychogenic movement disorders biolink:Disease mondo ICD10:F44.4|Orphanet:71519|MedDRA:10072376|UMLS:C3267131 Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype. UMLS:C3267131|ORPHA:71519|MEDDRA:10072376 http://purl.obolibrary.org/obo/MONDO_0019114 psychogenic dystonia ordo_clinical_syndrome MONDO:0019117 genetic nervous system disorder biolink:Disease mondo UMLS:CN205639|Orphanet:71859 An instance of nervous system disease that is caused by a modification of the individual's genome. ORPHA:71859|UMLS:CN205639 http://purl.obolibrary.org/obo/MONDO_0019117 rare genetic neurological disorder|genetic nervous system disorder|genetic neurological disorder ordo_group_of_disorders MONDO:0022758 chromosome 22, monosome mosaic biolink:Disease mondo MESH:C536798|UMLS:CN036765 MESH:C536798|UMLS:CN036765 http://purl.obolibrary.org/obo/MONDO_0022758 Mosaic monosome 22|chromosome 22 mosaic monosomy MONDO:0019116 obsolete catecholamine-producing tumor biolink:Disease mondo UMLS:CN205637|Orphanet:717 Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). ORPHA:717|UMLS:CN205637 http://purl.obolibrary.org/obo/MONDO_0019116 MONDO:0022759 trisomy 22 biolink:Disease mondo MESH:C536799|UMLS:C0265490|GARD:0005335|SCTID:205655003 Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR). UMLS:C0265490|MESH:C536799|SNOMEDCT:205655003 http://purl.obolibrary.org/obo/MONDO_0022759 chromosome 22 trisomy gard_rare MONDO:0019111 familial thrombocytosis biolink:Disease mondo ICD10:D75.2|Orphanet:71493|SCTID:720950009|UMLS:CN205627|OMIMPS:187950 Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. ORPHA:71493|SNOMEDCT:720950009|UMLS:CN205627 http://purl.obolibrary.org/obo/MONDO_0019111 hereditary thrombocythemia|hereditary thrombocytosis|thrombocythemia|THCYT|hereditary thrombocytosis disease|familial thrombocythemia ordo_disease MONDO:0019110 obsolete rare central nervous system or retinal vascular disease biolink:Disease mondo Orphanet:71281|UMLS:CN205621 ORPHA:71281|UMLS:CN205621 http://purl.obolibrary.org/obo/MONDO_0019110 ordo_group_of_disorders|obsoletion_candidate MONDO:0019113 benign paroxysmal torticollis of infancy biolink:Disease mondo UMLS:CN205631|SCTID:719521002|Orphanet:71518|ICD10:G24.3 Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children. SNOMEDCT:719521002|ORPHA:71518|UMLS:CN205631 http://purl.obolibrary.org/obo/MONDO_0019113 ordo_disease MONDO:0019112 cancer-associated retinopathy biolink:Disease mondo MESH:D059545|SCTID:404663008|Orphanet:71505|ICD9:362.10 Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins. SNOMEDCT:404663008|ORPHA:71505|MESH:D059545|UMLS:C0730307 http://purl.obolibrary.org/obo/MONDO_0019112 CAR syndrome|paraneoplastic retinopathy ordo_disease HGNC:20862 SLC39A8 biolink:OntologyClass mondo http://identifiers.org/hgnc/20862 MONDO:0022752 chromosome 16p13.3 deletion syndrome biolink:Disease mondo UMLS:C3502510|MESH:C566433 UMLS:C3502510|MESH:C566433 http://purl.obolibrary.org/obo/MONDO_0022752 Rubinstein-Taybi syndrome, Severe|RSTS, Severe MONDO:0022754 chromosome 17p deletion biolink:Disease mondo UMLS:CN036220|MESH:C538045|GARD:0006075|NCIT:C36499 A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17. UMLS:CN036220|MESH:C538045|NCIT:C36499 http://purl.obolibrary.org/obo/MONDO_0022754 17p- syndrome|interstitial deletion 17p|deletion 17p|deletion 17p syndrome|loss of chromosome 17p|monosomy 17p|17p deletion|del(17p)|chromosome 17p deletion syndrome|17p monosomy|chromosome 17p deletion|partial monosomy 17p MONDO:0007139 Antipyrine metabolism biolink:Disease mondo OMIM:107290|UMLS:C1862824 UMLS:C1862824|http://identifiers.org/omim/107290 http://purl.obolibrary.org/obo/MONDO_0007139 antipyrine metabolism MONDO:0022755 chromosome 18 mosaic monosomy biolink:Disease mondo UMLS:CN036727|MESH:C536581|GARD:0003726 MESH:C536581|UMLS:CN036727 http://purl.obolibrary.org/obo/MONDO_0022755 Mosaic monosomy 18|monosomy 18 mosaicism|Mosaic monosomy chromosome 18 gard_rare MONDO:0007137 isolated congenital anosmia biolink:Disease mondo GARD:0009486|OMIM:107200|MESH:C535983|SCTID:230502003|Orphanet:88620|ICD10:Q07.8 This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome. http://identifiers.org/omim/107200|MESH:C535983|SNOMEDCT:230502003|ORPHA:88620 http://purl.obolibrary.org/obo/MONDO_0007137 ANIC|congenital anosmia|anosmia, isolated congenital; ANIC|anosmia, isolated congenital|anosmia, congenital ordo_disease MONDO:0010767 spermatogenic failure, Y-linked, 2 biolink:Disease mondo DOID:0070187|MESH:C564030|OMIM:415000 MESH:C564030|DOID:0070187|http://identifiers.org/omim/415000 http://purl.obolibrary.org/obo/MONDO_0010767 spermatogenic failure, nonobstructive, Y-linked|spermatogenic failure, Y-linked, 2|oligospermia, nonobstructive, Y-linked|oligozoospermia, nonobstructive, Y-linked|Azf regions|azoospermia Factor regions|spermatogenic failure, Y-linked, 2; SPGFY2|azoospermia, nonobstructive, Y-linked|SPGFY2|spermatogenic arrest, Y-linked|spermatogenic failure, Y-linked, type 2 GO:0042475 odontogenesis of dentin-containing tooth biolink:OntologyClass mondo The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. http://purl.obolibrary.org/obo/GO_0042475 odontogeny|odontogenesis of dentine-containing teeth|odontogenesis of dentine-containing tooth|tooth development|odontosis MONDO:0009799 pachydermoperiostosis biolink:Disease mondo Orphanet:2796|GARD:0007299|MedDRA:10051686|SCTID:88220006|ICD10:M89.4|UMLS:CN202658 ORPHA:2796|MEDDRA:10051686|SNOMEDCT:88220006|UMLS:CN202658 http://purl.obolibrary.org/obo/MONDO_0009799 hypertrophic osteoarthropathy, primary, autosomal recessive, 1|Touraine Solente Gole syndrome|hypertrophic osteoarthropathy, primary, autosomal recessive, type 1|PHOAR1|PDP|Touraine-Solente-Gole syndrome ordo_malformation_syndrome MONDO:0007138 anterior segment dysgenesis 1 biolink:Disease mondo OMIM:107250|ICD10:Q13.8|UMLS:C1862839|DOID:0060605 UMLS:C1862839|http://identifiers.org/omim/107250|DOID:0060605 http://purl.obolibrary.org/obo/MONDO_0007138 ASGD1|anterior segment mesenchymal dysgenesis|anterior segment dysgenesis 1; ASGD1|anterior segment ocular dysgenesis|ASMD|anterior segment mesenchymal dysgenesis; ASMD MONDO:0010766 46,XX testicular disorder of sex development biolink:Disease mondo Orphanet:393|UMLS:CN205000|NCIT:C127170|UMLS:C2936419|GARD:0000399|MESH:D058531|OMIM:400045|ICD10:Q99.1 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. ORPHA:393|NCIT:C127170|UMLS:C0432475|UMLS:CN205000|MESH:D058531|UMLS:C2936419|http://identifiers.org/omim/400045 http://purl.obolibrary.org/obo/MONDO_0010766 XX sex reversal|46,XX testicular disorders of Sex development|46,XX testicular disorder of sex development|46,XX true hermaphroditism, Sry-positive|46,XX Sex reversal type 1|46,XX testicular differences of Sex development|XX male syndrome|ovotesticular disorder of Sex development|De la Chapelle syndrome|ovotesticular DSD|SRXX1|XX, male syndrome|46,XX testicular DSD|46, XX gonadal sex reversal|46,XX Sex reversal, Sry-positive|46,XX SEX reversal 1; SRXX1|XX Male, Sry-positive|46,XX SEX reversal 1|46,XX gonadal dysgenesis, complete, Sry-positive ordo_malformation_syndrome MONDO:0007135 nonsyndromic congenital nail disorder 6 biolink:Disease mondo GARD:0000710|OMIM:107000|DOID:0080084 DOID:0080084|http://identifiers.org/omim/107000 http://purl.obolibrary.org/obo/MONDO_0007135 onychodystrophy-anonychia|anonychia, partial|anonychia/hyponychia and onychodystrophy|NDNC6|absent nails and dystrophic nails|nail disorder, nonsyndromic congenital, 6; NDNC6|nail disorder, nonsyndromic congenital, 6|nonsyndromic congenital nail disorder type 6 MONDO:0010769 hairy ears, Y-linked biolink:Disease mondo OMIM:425500|MESH:C564029|UMLS:C1839070 UMLS:C1839070|http://identifiers.org/omim/425500|MESH:C564029 http://purl.obolibrary.org/obo/MONDO_0010769 hypertrichosis pinnae auris, Y-linked|hairy ears, Y-linked MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome biolink:Disease mondo OMIM:259050|UMLS:C0796121|Orphanet:3042|SCTID:726709001|MESH:C536420|GARD:0004488|ICD10:Q87.8 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. MESH:C536420|SNOMEDCT:726709001|http://identifiers.org/omim/259050|ORPHA:3042|UMLS:C0796121 http://purl.obolibrary.org/obo/MONDO_0009798 PRIMS|primrose syndrome; PRIMS|primrose syndrome|ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes ordo_malformation_syndrome MONDO:0007136 genetic anorectal anomalies biolink:Disease mondo OMIM:107100|MESH:C567938 http://identifiers.org/omim/107100|MESH:C567938 http://purl.obolibrary.org/obo/MONDO_0007136 anorectal anomalies prototype_pattern MONDO:0009797 orotic aciduria biolink:Disease mondo OMIM:258900|Orphanet:30|SCTID:47641009|GARD:0005429|ICD10:E79.8|MedDRA:10052621|NCIT:C98944|DOID:0050833 An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. MEDDRA:10052621|http://identifiers.org/omim/258900|SNOMEDCT:47641009|DOID:0050833|NCIT:C98944|ORPHA:30|UMLS:C0268130|UMLS:C0220987|MESH:C537136 http://purl.obolibrary.org/obo/MONDO_0009797 orotic aciduria 1|OPRT and ODC deficiency|orotate phosphoribosyltransferase and OMP decarboxylase deficiency|orotic aciduria type 1|Umps deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|UMP synthtase deficiency|Ump synthase deficiency|oroticaciduria 1|orotic aciduria without megaloblastic Anemia|orotic aciduria II (formerly)|UMPS|orotic aciduria|uridine monophosphate synthase deficiency|uridine monophosphate synthetase deficiency|oroticaciduria|hereditary orotic aciduria|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency ordo_disease GO:0042476 odontogenesis biolink:OntologyClass mondo The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. http://purl.obolibrary.org/obo/GO_0042476 tooth development|odontosis|odontogenesis of calcareous or chitinous tooth|tooth morphogenesis|odontogeny MONDO:0010768 gonadoblastoma biolink:Disease mondo ICDO:9073/1|DOID:3301|UMLS:C0206661|ONCOTREE:OGBL|NCIT:C3754|MESH:D018238|ICD10:D39.1 A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. DOID:3301|UMLS:C0206661|MESH:D018238|NCIT:C3754 http://purl.obolibrary.org/obo/MONDO_0010768 gonadoblastoma|gonad blastoma ordo_disease MONDO:0009796 ornithine aminotransferase deficiency biolink:Disease mondo MESH:C538071|GARD:0007272|UMLS:C0018425|Orphanet:414|MESH:D015799|GARD:0006556|OMIM:258870|ICD10:E72.4|NCIT:C84744|DOID:1415 Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract. http://identifiers.org/omim/258870|ORPHA:414|UMLS:C0018425|DOID:1415|UMLS:C0599035|NCIT:C84744|MESH:C538071|MESH:D015799|MESH:C537132 http://purl.obolibrary.org/obo/MONDO_0009796 gyrate atrophy of choroid and retina|Girate atrophy of the retina|hyperornithinemia|Oat deficiency|hyperornithinemia with gyrate atrophy of choroid and retina|hoga|gyrate atrophy of the choroid and/or retina|ornithine Keto acid aminotransferase deficiency|ornithine ketoacid aminotransferase deficiency|GACR|Ornithinemia|OKT deficiency|Ornithinemia with gyrate atrophy|Fuchs gyrate atrophy|Okt deficiency|Fuchs atrophia gyrata chorioideae et retinae|gyrate atrophy of the retina|Fuchs gyrate atrophy of the choroid and retina|gyrate atrophy of choroid and retina; GACR|ornithine-Delta-aminotransferase deficiency|gyrate atrophy|ornithine aminotransferase deficiency|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|OAT deficiency ordo_disease|gard_rare MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly biolink:Disease mondo UMLS:C1862842|Orphanet:2355|MESH:C536379|OMIM:106990|GARD:0000711 UMLS:C1862842|MESH:C536379|http://identifiers.org/omim/106990|ORPHA:2355 http://purl.obolibrary.org/obo/MONDO_0007133 Kumar-Levick syndrome|autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly|anonychia-onychodystrophy with brachydactyly type b and ectrodactyly gard_rare MONDO:0007134 Cooks syndrome biolink:Disease mondo GARD:0004083|MESH:C537766|SCTID:720747002|Orphanet:1487|ICD10:Q84.6|OMIM:106995|UMLS:C1862841 Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. UMLS:C1862841|ORPHA:1487|MESH:C537766|SNOMEDCT:720747002|http://identifiers.org/omim/106995 http://purl.obolibrary.org/obo/MONDO_0007134 Cooks syndrome|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome|anonychia and absence/hypoplasia of distal phalanges|ODP ordo_malformation_syndrome MONDO:0009795 orofaciodigital syndrome IX biolink:Disease mondo GARD:0010520|SCTID:718680001|ICD10:Q87.0|DOID:0060382|MESH:C557818|UMLS:C0796102|OMIM:258865|Orphanet:141007 Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). http://identifiers.org/omim/258865|SNOMEDCT:718680001|DOID:0060382|ORPHA:141007|MESH:C557818|UMLS:C0796102 http://purl.obolibrary.org/obo/MONDO_0009795 oral facial digital syndrome type 9|orofaciodigital syndrome type IX|oral-facial-digital syndrome type 9|OFD9|oral facial digital syndrome 9|orofaciodigital syndrome 9|orofaciodigital syndrome type 9|orofaciodigital syndrome IX; OFD9|orofaciodigital syndrome with retinal abnormalities|orofaciodigital syndrome IX|oral-facial-digital syndrome with retinal abnormalities|oral-Facial-digital syndrome, type 9|OFD syndrome 9|oral-Facial-digital syndrome with retinal abnormalities|Ofds 9 gard_rare|ordo_malformation_syndrome GO:0042470 melanosome biolink:OntologyClass mondo A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. http://purl.obolibrary.org/obo/GO_0042470 MONDO:0009794 orofaciodigital syndrome IV biolink:Disease mondo Orphanet:2753|DOID:0060374|SCTID:239031000|GARD:0000816|MESH:C537133|OMIM:258860|ICD10:Q87.0|UMLS:C0406727 Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet. SNOMEDCT:239031000|DOID:0060374|MESH:C537133|http://identifiers.org/omim/258860|UMLS:C0406727|ORPHA:2753 http://purl.obolibrary.org/obo/MONDO_0009794 oral-facial-digital syndrome type 4|Ofd syndrome with tibial defects|orofaciodigital syndrome type IV|orofaciodigital syndrome with tibial dysplasia|orofaciodigital syndrome 4|oral facial digital syndrome 4|orofaciodigital syndrome IV|orofaciodigital syndrome IV; OFD4|OFD syndrome 4|Ofd syndrome, Baraitser-Burn type|oral-Facial-digital syndrome, type 4|Baraitser-Burn syndrome|orofaciodigital syndrome type 4|OFD4|Ofds 4|oral facial digital syndrome type 4|Mohr-Majewski syndrome ordo_malformation_syndrome|gard_rare MONDO:0007131 anonychia with flexural pigmentation biolink:Disease mondo OMIM:106750|MESH:C566278|UMLS:C1862844|Orphanet:69125 Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant. http://identifiers.org/omim/106750|ORPHA:69125|UMLS:C1862844|MESH:C566278 http://purl.obolibrary.org/obo/MONDO_0007131 anonychia with flexural pigmentation ordo_malformation_syndrome MONDO:0009793 orofaciodigital syndrome III biolink:Disease mondo SCTID:239030004|Orphanet:2752|DOID:0060373|GARD:0010518|MESH:C557817|ICD10:Q87.0|OMIM:258850 Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit. SNOMEDCT:239030004|DOID:0060373|MESH:C557817|ORPHA:2752|UMLS:C0406726|http://identifiers.org/omim/258850 http://purl.obolibrary.org/obo/MONDO_0009793 Ofds 3|oral facial digital syndrome type 3|oral-facial-digital syndrome type 3|oral facial digital syndrome 3|orofaciodigital syndrome 3|orofaciodigital syndrome III|orofaciodigital syndrome type 3|orofaciodigital syndrome type III|Sugarman syndrome|orofaciodigital syndrome III; OFD3|OFD syndrome 3|OFD3|oral-Facial-digital syndrome, type 3 ordo_malformation_syndrome|gard_rare MONDO:0007132 anonychia-ectrodactyly biolink:Disease mondo MESH:C566277|GARD:0000708|UMLS:C1862843|OMIM:106900 MESH:C566277|http://identifiers.org/omim/106900|UMLS:C1862843 http://purl.obolibrary.org/obo/MONDO_0007132 anonychia-ectrodactyly|anonychia ectrodactyly gard_rare MONDO:0010770 ubiquitin-activating enzyme, Y-linked biolink:Disease mondo OMIM:489000 http://identifiers.org/omim/489000 http://purl.obolibrary.org/obo/MONDO_0010770 Ube1Y|ubiquitin-activating enzyme, Y-linked MONDO:0009792 ichthyosis-oral and digital anomalies syndrome biolink:Disease mondo UMLS:C1850268|GARD:0002960|OMIM:258840|MESH:C536272|Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. UMLS:C1850268|ORPHA:2272|http://identifiers.org/omim/258840|MESH:C536272 http://purl.obolibrary.org/obo/MONDO_0009792 unusual facies, digital abnormalities, and ichthyosis|Clayton Smith-Donnai syndrome|ichthyosis tapered fingers midline groove up|oral and digital anomalies with ichthyosis ordo_malformation_syndrome MONDO:0007130 congenital total pulmonary venous return anomaly biolink:Disease mondo ICD10:Q26.8|SCTID:111323005|EFO:1001167|DOID:4297|ICD10:Q26.2|COHD:432432|NCIT:C98585|ICD9:747.41|Orphanet:99125|OMIM:106700 Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. DOID:4297|http://identifiers.org/omim/106700|NCIT:C98585|ORPHA:99125|SNOMEDCT:111323005 http://purl.obolibrary.org/obo/MONDO_0007130 pulmonary venolobar syndrome|total anomalous pulmonary VENOUS return 1|scimitar syndrome|total anomalous pulmonary VENOUS return 1; TAPVR1|TAPVR1|scimitar anomaly|TAPVR|total anomalous pulmonary venous return|anomalous pulmonary Venous return ordo_morphological_anomaly MONDO:0009791 oral sensibility, disturbance of biolink:Disease mondo GARD:0009476|OMIM:258800 http://identifiers.org/omim/258800 http://purl.obolibrary.org/obo/MONDO_0009791 oral sensibility, disturbance of|disturbance of oral sensitivity|impairment of oral perception other_hierarchy|gard_rare MONDO:0010772 Leber optic atrophy and dystonia biolink:Disease mondo MESH:C536024|UMLS:C1839040|GARD:0008476|OMIM:500001 http://identifiers.org/omim/500001|MESH:C536024|UMLS:C1839040 http://purl.obolibrary.org/obo/MONDO_0010772 Leber's hereditary optic neuropathy with dystonia|LHON and dystonia|Leber hereditary optic neuropathy with dystonia|dystonia familial, with visual failure and striatal lucencies|dystonia, familial, with visual failure and striatal lucencies|LDYT|Marsden syndrome|Leber optic atrophy and dystonia|Leber Hereditary optic neuropathy with dystonia MONDO:0009790 Opticocochleodentate degeneration biolink:Disease mondo SCTID:77553008|ICD9:333.90|UMLS:C0520711|OMIM:258700|MESH:C563002 MESH:C563002|SNOMEDCT:77553008|UMLS:C0520711|http://identifiers.org/omim/258700 http://purl.obolibrary.org/obo/MONDO_0009790 Opticocochleodentate degeneration MONDO:0010771 histiocytoid cardiomyopathy biolink:Disease mondo UMLS:C1708371|GARD:0009511|NCIT:C45745|UMLS:CN239812|Orphanet:137675|MESH:C535584|OMIM:500000|DOID:0080198|ICD10:I42.0 Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. NCIT:C45745|http://identifiers.org/omim/500000|ORPHA:137675|DOID:0080198|UMLS:C1708371|UMLS:CN239812|MESH:C535584 http://purl.obolibrary.org/obo/MONDO_0010771 Purkinje cell hamartoma|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|myocardial hamartoma|infantile cardiomyopathy with histiocytoid change|congenital cardiomyopathy|histiocytoid cardiomyopathy|infantile xanthomatous cardiomyopathy|isolated Cardiac lipidosis|focal lipid cardiomyopathy|cardiomyopathy, focal Lipid|oncocytic cardiomyopathy|Arachnocytosis of the myocardium|foamy myocardial transformation of infancy|infantile histiocytoid cardiomyopathy|cardiomyopathy, infantile histiocytoid ordo_disease|gard_rare MONDO:0019108 silent sinus syndrome biolink:Disease mondo UMLS:C3698095|ICD9:478.19|SCTID:699802009|Orphanet:71276 Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls. SNOMEDCT:699802009|ORPHA:71276|UMLS:C3698095 http://purl.obolibrary.org/obo/MONDO_0019108 Imploding antrum syndrome ordo_disease MONDO:0010774 striatonigral degeneration, infantile, mitochondrial biolink:Disease mondo UMLS:C1839022|MESH:C564025|OMIM:500003 http://identifiers.org/omim/500003|UMLS:C1839022|MESH:C564025 http://purl.obolibrary.org/obo/MONDO_0010774 bilateral striatal Necrosis, infantile, mitochondrial|infantile bilateral striatal Necrosis, mitochondrial|striatonigral degeneration, infantile, mitochondrial MONDO:0019107 Rh deficiency syndrome biolink:Disease mondo ICD10:D58.8|UMLS:C1849387|UMLS:C0272052|DOID:0050641|Orphanet:71275|SCTID:37272000|OMIM:268150|GARD:0012916 The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia. http://identifiers.org/omim/268150|SNOMEDCT:37272000|DOID:0050641|ORPHA:71275|UMLS:C1849387|UMLS:C0272052 http://purl.obolibrary.org/obo/MONDO_0019107 Rh-null disease|RH-null, regulator type; RHNR|Rh-null hemolytic Anemia, regulator type|RH-null, regulator type; RHN|Rh-null disease, regulator type|RH-null, regulator type|Rh-null syndrome|Rh deficiency syndrome|RHNR|RHN|Rh-Mod gard_rare|ordo_disease MONDO:0010773 myopathy and diabetes mellitus biolink:Disease mondo UMLS:C1839028|ICD10:G71.3|Orphanet:2596|GARD:0003881|OMIM:500002|MESH:C564026 http://identifiers.org/omim/500002|ORPHA:2596|UMLS:C1839028|MESH:C564026 http://purl.obolibrary.org/obo/MONDO_0010773 mitochondrial myopathy with diabetes|mitochondrial myopathy, lipid type ordo_disease MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial biolink:Disease mondo UMLS:C1839021|OMIM:500005|MESH:C564024 http://identifiers.org/omim/500005|UMLS:C1839021|MESH:C564024 http://purl.obolibrary.org/obo/MONDO_0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial MONDO:0019109 CANOMAD syndrome biolink:Disease mondo SCTID:715624006|UMLS:C2931684|Orphanet:71279|ICD10:G61.8|MESH:C537980|GARD:0009778 CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy. UMLS:C2931684|SNOMEDCT:715624006|MESH:C537980|ORPHA:71279 http://purl.obolibrary.org/obo/MONDO_0019109 chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome|chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome|chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies|chronic sensory ataxic neuropathy with anti-disialosyl antibodies gard_rare|ordo_disease MONDO:0010775 retinitis pigmentosa-deafness syndrome biolink:Disease mondo OMIM:500004|GARD:0004684|ICD10:H35.5|UMLS:CN033130|DOID:0110829|SCTID:57838006 An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome. http://identifiers.org/omim/500004|DOID:0110829|UMLS:CN033130|SNOMEDCT:57838006 http://purl.obolibrary.org/obo/MONDO_0010775 RP21, formerly|RP8, formerly|retinitis pigmentosa-deafness syndrome|retinitis pigmentosa 8, formerly|retinitis pigmentosa 8|retinitis pigmentosa 21, formerly|retinitis pigmentosa 21 MONDO:0019104 Sandifer syndrome biolink:Disease mondo GARD:0009684|NCIT:C113397|MedDRA:10066142|SCTID:230314007|MESH:C537234|Orphanet:71272|UMLS:C0338465 Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. MEDDRA:10066142|MESH:C537234|UMLS:C0338465|ORPHA:71272|NCIT:C113397|SNOMEDCT:230314007 http://purl.obolibrary.org/obo/MONDO_0019104 Sandifer's syndrome gard_rare|ordo_disease MONDO:0022745 mixed dust pneumoconiosis biolink:Disease mondo SCTID:32139003|ICD9:504|GARD:0008374|UMLS:C0264436 UMLS:C0264436|SNOMEDCT:32139003 http://purl.obolibrary.org/obo/MONDO_0022745 mixed dust pneumoconiosis|Mixed dust pneumoconiosis|labrador lung gard_rare HGNC:19877 GALNT12 biolink:OntologyClass mondo http://identifiers.org/hgnc/19877 HGNC:17213 COLEC11 biolink:OntologyClass mondo http://identifiers.org/hgnc/17213 MONDO:0022746 chromosome 13p duplication biolink:Disease mondo UMLS:CN037021|MESH:C535450 MESH:C535450|UMLS:CN037021 http://purl.obolibrary.org/obo/MONDO_0022746 trisomy 13p|Duplication 13p|chromosome 13p, trisomy MONDO:0019103 benign exophthalmos syndrome biolink:Disease mondo Orphanet:71269|ICD10:H05.2|SCTID:719519007|UMLS:C4304668 Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. SNOMEDCT:719519007|UMLS:C4304668|ORPHA:71269 http://purl.obolibrary.org/obo/MONDO_0019103 bes ordo_disease HGNC:20856 THAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/20856 MONDO:0019106 obsolete disseminated peritoneal leiomyomatosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019106 MONDO:0019105 renal nutcracker syndrome biolink:Disease mondo UMLS:C3178770|GARD:0011971|SCTID:717267005|Orphanet:71273|EFO:1001838|MESH:D059228 1 mmHg). The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria. UMLS:C3178770|ORPHA:71273|SNOMEDCT:717267005|MESH:D059228 http://purl.obolibrary.org/obo/MONDO_0019105 left renal vein entrapment syndrome|RNS|nutcracker syndrome ordo_disease HGNC:20858 SLC39A14 biolink:OntologyClass mondo http://identifiers.org/hgnc/20858 MONDO:0019100 neuromyelitis optica biolink:Disease mondo EFO:0004256|DOID:8869|NCIT:C84934|SCTID:25044007|ICD9:341.0|Orphanet:71211|MedDRA:10029322|UMLS:C0027873|ICD10:G36.0|GARD:0006267|MESH:D009471|COHD:380995 Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis. UMLS:C0027873|MESH:D009471|ORPHA:71211|MEDDRA:10029322|SNOMEDCT:25044007|NCIT:C84934|DOID:8869 http://purl.obolibrary.org/obo/MONDO_0019100 Devic's neuromyelitis optica|NMO|Devic's syndrome|Devic syndrome|Devic's disease|Devic disease ordo_disease|gard_rare MONDO:0022749 non-neoplastic nevus biolink:Disease mondo NCIT:C3937|ICD9:448.1|SCTID:195381005|UMLS:C0265027 A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth. UMLS:C0265027|SNOMEDCT:195381005|NCIT:C3937 http://purl.obolibrary.org/obo/MONDO_0022749 Non-Neoplastic Nevus|Non-neoplastic nevus|non-neoplastic nevus HGNC:20859 SLC39A13 biolink:OntologyClass mondo http://identifiers.org/hgnc/20859 MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome biolink:Disease mondo Orphanet:71267|SCTID:721089006|UMLS:CN205609 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. ORPHA:71267|UMLS:CN205609|SNOMEDCT:721089006 http://purl.obolibrary.org/obo/MONDO_0019102 ordo_malformation_syndrome MONDO:0019101 retinal capillary malformation biolink:Disease mondo Orphanet:71213|ICD10:D18.0 Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles. ORPHA:71213|UMLS:C0730304 http://purl.obolibrary.org/obo/MONDO_0019101 ordo_disease MONDO:0009808 osteoid osteoma (disease) biolink:Disease mondo MESH:D010017|ICDO:9191/0|NCIT:C3297|HP:0030433|UMLS:C0029441|SCTID:302859004|OMIM:259550 A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare. UMLS:C0029441|NCIT:C3297|http://identifiers.org/omim/259550|SNOMEDCT:302859004|MESH:D010017 http://purl.obolibrary.org/obo/MONDO_0009808 osteoid osteoma MONDO:0009807 osteosarcoma (disease) biolink:Disease mondo EFO:0000637|HP:0002669|ONCOTREE:OS|DOID:3347|NCIT:C9145|ICDO:9180/3 A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. NCIT:C9145|DOID:3347 http://purl.obolibrary.org/obo/MONDO_0009807 osteoid sarcoma|bone tissue neoplasm|skeletal sarcoma|osteosarcoma, malignant|sarcoma of osteoid|osteosarcoma|osteogenic sarcoma MONDO:0009806 Bruck syndrome 1 biolink:Disease mondo GARD:0001029|UMLS:C1850168|OMIM:259450 Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene. UMLS:C1850168|http://identifiers.org/omim/259450 http://purl.obolibrary.org/obo/MONDO_0009806 Bruck syndrome caused by mutation in FKBP10|Kuskokwim disease|Bruck syndrome 1|arthrogryposis-like disorder|FKBP10 Bruck syndrome|Bruck syndrome 1; BRKS1|Bruck syndrome type 1|BRKS1 MONDO:0009805 osteogenesis imperfecta type 9 biolink:Disease mondo ICD10:Q78.0|MESH:C564921|OMIM:259440|DOID:0110349|GARD:0010619 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene. http://identifiers.org/omim/259440|DOID:0110349|MESH:C564921 http://purl.obolibrary.org/obo/MONDO_0009805 osteogenesis imperfecta caused by mutation in PPIB|osteogenesis imperfecta sillence type II/III without abnormality of type I collagen|OI9|OI 9|PPIB osteogenesis imperfecta|osteogenesis imperfecta, type IX; OI9|osteogenesis imperfecta type IX|OI, type 9|osteogenesis imperfecta, type IX|osteogenesis imperfecta, type 9|OI type IX MONDO:0009804 osteogenesis imperfecta type 3 biolink:Disease mondo OMIM:259420|ICD10:Q78.0|NCIT:C99002|GARD:0008695|DOID:0110339|MESH:C536044|Orphanet:216812|SCTID:385483009|UMLS:C0268362 Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). UMLS:C0268362|http://identifiers.org/omim/259420|ORPHA:216812|MESH:C536044|NCIT:C99002|DOID:0110339|SNOMEDCT:385483009 http://purl.obolibrary.org/obo/MONDO_0009804 progressively deforming OI|osteogenesis imperfecta, progressively deforming with normal sclerae|osteogenesis imperfecta type III|progressively deforming osteogenesis imperfecta with normal sclera|osteogenesis imperfecta, type 3|OI, type 3|Oi3|OI type 3|progressive deforming osteogenesis imperfecta|osteogenesis imperfecta, type III; OI3|osteogenesis imperfecta, progressively deforming, with normal sclerae|severe osteogenesis imperfecta|osteogenesis imperfecta, type III|OI type III|OI3 ordo_clinical_subtype MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome biolink:Disease mondo UMLS:C1850184|OMIM:259410|MESH:C537558|ICD10:Q78.0|Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive. UMLS:C1850184|http://identifiers.org/omim/259410|ORPHA:2772|MESH:C537558 http://purl.obolibrary.org/obo/MONDO_0009803 osteogenesis imperfecta congenita, microcephaly, and cataracts ordo_malformation_syndrome MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski biolink:Disease mondo UMLS:C1850185|OMIM:259270|MESH:C564922|GARD:0008662 http://identifiers.org/omim/259270|MESH:C564922|UMLS:C1850185 http://purl.obolibrary.org/obo/MONDO_0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski|Danks Mayne Kozlowski precocious osteodysplasty|osteodysplasty precocious of Danks Mayne and Kozlowski gard_rare MONDO:0009801 familial osteodysplasia, Anderson type biolink:Disease mondo UMLS:C1850186|OMIM:259250|GARD:0004136|MESH:C564923|Orphanet:2769 Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. ORPHA:2769|MESH:C564923|http://identifiers.org/omim/259250|UMLS:C1850186 http://purl.obolibrary.org/obo/MONDO_0009801 osteodysplasia familial Anderson type|osteodysplasia, familial, Anderson type ordo_malformation_syndrome|gard_rare MONDO:0009800 Blount disease, adolescent biolink:Disease mondo UMLS:C3151572|OMIM:259200 UMLS:C3151572|http://identifiers.org/omim/259200 http://purl.obolibrary.org/obo/MONDO_0009800 Blount disease, adolescent|tibia vara, adolescent|Osteochondrosis deformans tibiae, adolescent HGNC:4847 HCRT biolink:OntologyClass mondo http://identifiers.org/hgnc/4847 NCBITaxon:198624 Dermocystida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_198624 HP:0002135 Basal ganglia calcification biolink:PhenotypicFeature mondo UMLS:C1389280 The presence of calcium deposition affecting one or more structures of the basal ganglia. http://purl.obolibrary.org/obo/HP_0002135 Calcification of the basal ganglia|Basal ganglia calcifications|Basal ganglion calcification HGNC:4851 HTT biolink:OntologyClass mondo http://identifiers.org/hgnc/4851 HP:0002134 Abnormality of the basal ganglia biolink:PhenotypicFeature mondo UMLS:C0004782|SNOMEDCT_US:70835005|MSH:D001480 Abnormality of the basal ganglia. http://purl.obolibrary.org/obo/HP_0002134 Anomaly of the basal ganglia|Basal ganglia disease UBERON:0006440 os clitoris biolink:AnatomicalEntity mondo The ossified region of endochondral and membranous bone located in the clitoris of most mammals except humans; it is homologous to the penile bone (aka as baculum, penis bone or os penis) in male mammals http://purl.obolibrary.org/obo/UBERON_0006440 os clitoridis|clitoris bone|clitoral bone|baubellum HGNC:19967 CCDC88C biolink:OntologyClass mondo http://identifiers.org/hgnc/19967 HGNC:4855 HDC biolink:OntologyClass mondo http://identifiers.org/hgnc/4855 NCBITaxon:186634 Otomorpha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186634 Otocephala|Ostarioclupeomorpha CHEBI:18237 glutamic acid biolink:ChemicalSubstance mondo An alpha-amino acid that is glutaric acid bearing a single amino substituent at position 2. http://purl.obolibrary.org/obo/CHEBI_18237 Glutaminsaeure|E|Glutamate|Glu|DL-Glutamic acid|Glutaminic acid|2-Aminoglutaric acid|DL-Glutaminic acid|glutamic acid|2-aminopentanedioic acid|Glutamic acid HGNC:19963 TTLL5 biolink:OntologyClass mondo http://identifiers.org/hgnc/19963 HGNC:32940 NKX2-6 biolink:OntologyClass mondo http://identifiers.org/hgnc/32940 NCBITaxon:160008 Mesocestoides lineatus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_160008 HGNC:19960 KIAA0586 biolink:OntologyClass mondo http://identifiers.org/hgnc/19960 UBERON:0006444 annulus fibrosus biolink:AnatomicalEntity mondo A ring of fibrous or fibrocartilaginous tissue (as of an intervertebral disk or surrounding an orifice of the heart). http://purl.obolibrary.org/obo/UBERON_0006444 fibrocartilaginous ring|anulus|anulus fibrosus|fibrous ring MONDO:0009819 obsolete idiopathic juvenile osteoporosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009819 MONDO:0009818 autosomal recessive osteopetrosis 3 biolink:Disease mondo SCTID:254122007|NCIT:C118438|OMIM:259730|MESH:C536058|ICD9:588.89|DOID:0110941|ICD10:Q78.2|GARD:0004154|Orphanet:2785 Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. NCIT:C118438|http://identifiers.org/omim/259730|ORPHA:2785|MESH:C536058|SNOMEDCT:254122007|DOID:0110941 http://purl.obolibrary.org/obo/MONDO_0009818 carbonic anhydrase 2 deficiency|osteopetrosis, autosomal recessive 3|autosomal recessive osteopetrosis type 3|CA2 osteopetrosis (disease)|autosomal recessive osteopetrosis 3 with renal tubular acidosis|Autosomal Recessive osteopetrosis, type 3|Guibaud-Vainsel syndrome|osteopetrosis, autosomal recessive 3; OPTB3|renal tubular acidosis type 3|mixed renal tubular acidosis|osteopetrosis autosomal recessive 3|Guibaud Vainsel syndrome|osteopetrosis (disease) caused by mutation in CA2|osteopetrosis, autosomal recessive type 3|OPTB3|osteopetrosis with renal tubular acidosis|marble brain disease|mixed RTA|carbonic anhydrase II deficiency ordo_disease|gard_rare MONDO:0009817 autosomal recessive osteopetrosis 5 biolink:Disease mondo DOID:0110939|MESH:C566883|OMIM:259720|GARD:0004153 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene. http://identifiers.org/omim/259720|MESH:C566883|DOID:0110939 http://purl.obolibrary.org/obo/MONDO_0009817 osteopetrosis, autosomal recessive 5|OPTB5|OSTM1 osteopetrosis (disease)|osteopetrosis, infantile malignant 3|osteopetrosis, autosomal recessive 5; OPTB5|autosomal recessive osteopetrosis type 5|infantile malignant osteopetrosis 3|osteopetrosis autosomal recessive 5|osteopetrosis (disease) caused by mutation in OSTM1|osteopetrosis, autosomal recessive type 5|osteopetrosis infantile malignant 3 gard_rare MONDO:0009816 autosomal recessive osteopetrosis 2 biolink:Disease mondo OMIM:259710|DOID:0110943|MESH:C536059|GARD:0004157 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene. http://identifiers.org/omim/259710|MESH:C536059|DOID:0110943 http://purl.obolibrary.org/obo/MONDO_0009816 osteopetrosis, autosomal recessive 2|autosomal recessive osteopetrosis caused by mutation in TNFSF11|autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11|osteopetrosis, autosomal recessive 2; OPTB2|OPTB2|TNFSF11 autosomal recessive osteopetrosis|osteoclast-poor osteopetrosis|TNFSF11 autosomal recessive malignant osteopetrosis|osteopetrosis autosomal recessive 2|mild autosomal recessive form osteopetrosis|osteopetrosis, autosomal recessive type 2|osteopetrosis osteoclast-poor|osteopetrosis, mild autosomal recessive form|autosomal recessive osteopetrosis type 2|osteopetrosis, osteoclast-poor gard_rare NCBITaxon:6447 Mollusca organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6447 molluscs|mollusks|molluscs MONDO:0009815 autosomal recessive osteopetrosis 1 biolink:Disease mondo GARD:0002579|DOID:0110942|MESH:C564915|OMIM:259700 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene. http://identifiers.org/omim/259700|DOID:0110942|MESH:C564915 http://purl.obolibrary.org/obo/MONDO_0009815 marble bones, autosomal recessive|autosomal recessive osteopetrosis type 1|Albers-Schonberg disease, autosomal recessive|marble bones autosomal recessive|osteopetrosis autosomal recessive 1|osteopetrosis, infantile malignant 1|autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1|osteopetrosis, autosomal recessive 1|autosomal recessive osteopetrosis caused by mutation in TCIRG1|osteopetrosis, autosomal recessive 1; OPTB1|TCIRG1 autosomal recessive osteopetrosis|osteopetrosis infantile malignant 1|autosomal recessive Albers-Schonberg disease|TCIRG1 autosomal recessive malignant osteopetrosis|OPTB1|infantile malignant osteopetrosis 1|osteopetrosis, autosomal recessive type 1 gard_rare HGNC:32925 ATXN8 biolink:OntologyClass mondo http://identifiers.org/hgnc/32925 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome biolink:Disease mondo Orphanet:2324|SCTID:732954002|OMIM:259690|UMLS:C1850140|GARD:0000354|MESH:C537706 Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. http://identifiers.org/omim/259690|ORPHA:2324|MESH:C537706|SNOMEDCT:732954002|UMLS:C1850140 http://purl.obolibrary.org/obo/MONDO_0009814 Kaler Garrity Stern syndrome|osteopenia mental retardation sparse hair|Kaler-Garrity-Stern syndrome|osteopenia intellectual disability sparse hair|osteopenia and sparse hair ordo_malformation_syndrome NCBITaxon:6448 Gastropoda organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6448 gastropods|gastropods MONDO:0009813 chronic recurrent multifocal osteomyelitis (disease) biolink:Disease mondo DOID:0060645|OMIM:259680|MESH:C535456|UMLS:C0410422|ICD10:M86.3|Orphanet:324964|HP:0002754|GARD:0006108|NCIT:C119042|SCTID:240151005 Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. http://identifiers.org/omim/259680|UMLS:C0410422|MESH:C535456|DOID:0060645|NCIT:C119042|SNOMEDCT:240151005|ORPHA:324964 http://purl.obolibrary.org/obo/MONDO_0009813 chronic recurrent multifocal osteomyelitis|NBO|chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis|chronic multifocal osteomyelitis|CMO|non-bacterial osteomyelitis|multifocal osteomyelitis, chronic|CRMO|CNO/CRMO|osteomyelitis, chronic multifocal|chronic recurrent multifocal osteomyelitis; CRMO ordo_disease MONDO:0009812 osteomalacia, sclerosing, with cerebral calcification biolink:Disease mondo OMIM:259660|MESH:C564916|UMLS:C1850141 http://identifiers.org/omim/259660|MESH:C564916|UMLS:C1850141 http://purl.obolibrary.org/obo/MONDO_0009812 osteomalacia, sclerosing, with cerebral calcification CHEBI:33888 cobalt molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entities|cobalt compounds|cobalt molecular entity MONDO:0009811 osteoma of middle ear biolink:Disease mondo OMIM:259650|MESH:C564917|UMLS:C1850142 MESH:C564917|UMLS:C1850142|http://identifiers.org/omim/259650 http://purl.obolibrary.org/obo/MONDO_0009811 osteoma of middle ear MONDO:0009810 autosomal recessive distal osteolysis syndrome biolink:Disease mondo OMIM:259610|UMLS:C1850143|GARD:0004299|SCTID:715487005|Orphanet:2776|GARD:0004144|UMLS:C4275111|MESH:C536052 Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. MESH:C536052|ORPHA:2776|SNOMEDCT:715487005|UMLS:C4275111|UMLS:C1850143|http://identifiers.org/omim/259610 http://purl.obolibrary.org/obo/MONDO_0009810 osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance|Petit-Fryns syndrome|osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance|osteolysis syndrome recessive|osteolysis syndrome, recessive|osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance|osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance|distal osteolysis-short stature-intellectual disability syndrome ordo_malformation_syndrome|gard_rare UBERON:0018415 ethmoid foramen biolink:AnatomicalEntity mondo An bone foramen in the ethmoid bone. http://purl.obolibrary.org/obo/UBERON_0018415 ethmoidal foramina|foramina ethmoidalia|ethmoidal foramen|ethmoid foramina UBERON:0018413 facial nerve canal biolink:AnatomicalEntity mondo A Z-shaped canal running through the temporal bone from the internal acoustic meatus to the stylomastoid foramen. It is located within the middle ear region, according to its shape it is divided into three main segments: the labyrinthine, the tympanic, and the mastoidal segment . http://purl.obolibrary.org/obo/UBERON_0018413 fallopian canal|facial canal|canalis nervi facialis HGNC:4861 HELLS biolink:OntologyClass mondo http://identifiers.org/hgnc/4861 HP:0002145 Frontotemporal dementia biolink:PhenotypicFeature mondo MSH:D057180|UMLS:C0338451|SNOMEDCT_US:230270009 A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. http://purl.obolibrary.org/obo/HP_0002145 HP:0002148 Hypophosphatemia biolink:PhenotypicFeature mondo UMLS:C0085682|MSH:D017674|SNOMEDCT_US:4996001 An abnormally decreased phosphate concentration in the blood. http://purl.obolibrary.org/obo/HP_0002148 Low blood phosphate level|Hypophosphataemia HP:0002149 Hyperuricemia biolink:PhenotypicFeature mondo UMLS:C0740394|MSH:D033461|SNOMEDCT_US:35885006 An abnormally high level of uric acid in the blood. http://purl.obolibrary.org/obo/HP_0002149 High blood uric acid level|Hyperuricaemia HGNC:17318 RXFP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17318 HGNC:4867 HERC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4867 NCBITaxon:186623 Actinopteri organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186623 HGNC:2205 CERT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2205 HGNC:2204 COL4A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2204 HGNC:19977 RDH12 biolink:OntologyClass mondo http://identifiers.org/hgnc/19977 NCBITaxon:186625 Clupeocephala organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186625 HGNC:2203 COL4A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2203 HGNC:2202 COL4A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2202 NCBITaxon:186627 Cypriniphysae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186627 Cypriniphysi HGNC:2201 COL3A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2201 HP:0002143 Abnormality of the spinal cord biolink:PhenotypicFeature mondo UMLS:C0037928|MSH:D013118|UMLS:C4025722|SNOMEDCT_US:48522003 An abnormality of the spinal cord (myelon). http://purl.obolibrary.org/obo/HP_0002143 Spinal cord disease|Spinal cord pathology|Abnormality of the spinal cord NCBITaxon:186626 Otophysi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186626 Otophysa UBERON:0006435 os penis biolink:AnatomicalEntity mondo the unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species http://purl.obolibrary.org/obo/UBERON_0006435 penis bone|penile bone|os baculum|baculum HGNC:2200 COL2A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2200 HP:0002140 Ischemic stroke biolink:PhenotypicFeature mondo UMLS:C0948008|SNOMEDCT_US:422504002 http://purl.obolibrary.org/obo/HP_0002140 Ischaemic stroke MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy biolink:Disease mondo NCIT:C123437|OMIM:259600 A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy. NCIT:C123437|http://identifiers.org/omim/259600 http://purl.obolibrary.org/obo/MONDO_0009809 Torg-Winchester syndrome, formerly|Al-Aqeel Sewairi syndrome|Torg-Winchester syndrome|Torg syndrome|mona|multicentric osteolysis, nodulosis, and arthropathy|nodulosis-arthropathy-osteolysis syndrome|osteolysis, hereditary multicentric|multicentric osteolysis, nodulosis, and arthropathy; mona|NAO syndrome HGNC:2209 COL5A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2209 HGNC:2208 COL4A6 biolink:OntologyClass mondo http://identifiers.org/hgnc/2208 HGNC:2207 COL4A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/2207 HGNC:2206 COL4A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/2206 HGNC:4868 HERC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4868 UBERON:0018408 infra-orbital nerve biolink:AnatomicalEntity mondo A branch of the maxillary nerve that enters the infraorbital canal and innervates the lower eyelid, upper lip, the nasal vestibule, the upper incisors, canines, premolars, upper gums, lower eyelid and conjunctiva, and part of the nose. http://purl.obolibrary.org/obo/UBERON_0018408 infraorbital nerve|infra-orbital nerve|infraorbital portion CHEBI:33856 aromatic amino acid biolink:ChemicalSubstance mondo An amino acid whose structure includes an aromatic ring. http://purl.obolibrary.org/obo/CHEBI_33856 aromatic amino acids|Aromatic amino acid HP:0002119 Ventriculomegaly biolink:PhenotypicFeature mondo UMLS:C3278923 An increase in size of the ventricular system of the brain. http://purl.obolibrary.org/obo/HP_0002119 Enlarged ventricular system|Cerebral ventricular dilatation|Dilated cerebral ventricles|Ventricular dilatation|Dilated ventricles|Dilated cerebral ventricle|Enlarged cerebral ventricles|Large cerebral ventricles and cisternae|Enlarged ventricles CHEBI:33859 aromatic carboxylic acid biolink:ChemicalSubstance mondo Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring. http://purl.obolibrary.org/obo/CHEBI_33859 aromatic carboxylic acids HP:0002113 Pulmonary infiltrates biolink:PhenotypicFeature mondo UMLS:C0235896 http://purl.obolibrary.org/obo/HP_0002113 Pulmonic infiltration|Lung infiltrates HP:0002118 Abnormality of the cerebral ventricles biolink:PhenotypicFeature mondo UMLS:C4025724 Abnormality of the cerebral ventricles. http://purl.obolibrary.org/obo/HP_0002118 CHEBI:33853 phenols biolink:ChemicalSubstance mondo Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring. http://purl.obolibrary.org/obo/CHEBI_33853 Aryl alcohol|a phenol|arenols|phenols HGNC:4877 HESX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4877 HGNC:4878 HEXA biolink:OntologyClass mondo http://identifiers.org/hgnc/4878 NCBITaxon:39054 Enterovirus A71 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39054 EV71|EV-A71|Human enterovirus A71|EV-71|Enterovirus EV-A71|Human enterovirus 71|enterovirus type 71|Enterovirus 71|Human enterovirus type 71 HGNC:2216 COL8A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2216 HGNC:2214 COL7A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2214 HGNC:2213 COL6A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2213 HGNC:2212 COL6A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2212 HP:0002110 Bronchiectasis biolink:PhenotypicFeature mondo UMLS:C0006267|MSH:D001987|SNOMEDCT_US:12295008 Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. http://purl.obolibrary.org/obo/HP_0002110 Permanent enlargement of the airways of the lungs HGNC:2211 COL6A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2211 HGNC:2210 COL5A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2210 NCBITaxon:1903411 Yersiniaceae organism taxon mondo PMID:27620848|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1903411 HGNC:2219 COL9A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2219 HGNC:2218 COL9A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2218 NCBITaxon:1903414 Morganellaceae organism taxon mondo PMID:27620848|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1903414 Morganellaceae Adeolu et al. 2016 HGNC:2217 COL9A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2217 HGNC:4879 HEXB biolink:OntologyClass mondo http://identifiers.org/hgnc/4879 NCBITaxon:1903410 Pectobacteriaceae organism taxon mondo PMID:27620848|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1903410 HGNC:4883 CFH biolink:OntologyClass mondo http://identifiers.org/hgnc/4883 CHEBI:33860 aromatic amine biolink:ChemicalSubstance mondo An amino compound in which the amino group is linked directly to an aromatic system. http://purl.obolibrary.org/obo/CHEBI_33860 aryl amines|aryl amine|arylamines|aromatic amines|arylamine CHEBI:33861 transition element coordination entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33861 transition metal coordination compounds|transition element coordination entities|transition metal coordination entities HGNC:4886 HFE biolink:OntologyClass mondo http://identifiers.org/hgnc/4886 HGNC:4887 HJV biolink:OntologyClass mondo http://identifiers.org/hgnc/4887 HP:0004789 Lactose intolerance biolink:PhenotypicFeature mondo SNOMEDCT_US:267425008|UMLS:C0022951|MSH:D007787|SNOMEDCT_US:700094005 An inability to digest lactose. http://purl.obolibrary.org/obo/HP_0004789 Lactose intolerance|Milk intolerance HGNC:4888 CFHR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4888 HGNC:19957 TECPR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/19957 HGNC:19954 SLC25A22 biolink:OntologyClass mondo http://identifiers.org/hgnc/19954 HGNC:2227 COMP biolink:OntologyClass mondo http://identifiers.org/hgnc/2227 CHEBI:18248 iron atom biolink:ChemicalSubstance mondo An iron group element atom that has atomic number 26. http://purl.obolibrary.org/obo/CHEBI_18248 26Fe|fer|Fe|iron|hierro|iron|Iron|Eisen|ferrum HGNC:2226 COLQ biolink:OntologyClass mondo http://identifiers.org/hgnc/2226 HP:0100716 Self-injurious behavior biolink:PhenotypicFeature mondo SNOMEDCT_US:248062006|UMLS:C0085271|MSH:D016728 Aggression towards oneself. http://purl.obolibrary.org/obo/HP_0100716 Autoagression|Self injury|Self-injurious behaviour|Self-harm|Self-injurious behavior|Self-injurious behaviors HP:0002121 Generalized non-motor (absence) seizure biolink:PhenotypicFeature mondo SNOMEDCT_US:230413002|MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|UMLS:C0014553 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. http://purl.obolibrary.org/obo/HP_0002121 Petit mal seizure|Brief seizures with staring spells|Absence seizures|Absence seizure|Petit mal|Petit mal seizures|Generalised non-motor (absence) seizure|Generalised non-motor seizure HGNC:2220 COLEC10 biolink:OntologyClass mondo http://identifiers.org/hgnc/2220 NCBITaxon:644710 Anisakis simplex complex organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_644710 MONDO:0009849 hyperimmunoglobulinemia D with periodic fever biolink:Disease mondo OMIM:260920|UMLS:C0398691|ICD10:E85.0|GARD:0002788|Orphanet:343 Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs). UMLS:C0398691|ORPHA:343|http://identifiers.org/omim/260920 http://purl.obolibrary.org/obo/MONDO_0009849 periodic fever, Dutch type|HIDS|hyper-IgD syndrome; HIDS|hyperimmunoglobinemia D with recurrent fever|periodic fever Dutch type|hyper-IgD syndrome|hyper IgD syndrome|hyperimmunoglobulinemia D and periodic fever syndrome|hyperimmunoglobulinemia D syndrome|partial mevalonate kinase deficiency ordo_disease MONDO:0009848 dissecting cellulitis of the scalp biolink:Disease mondo MESH:C562486|GARD:0001883|ICD10:L08.8|SCTID:77333008|Orphanet:345|UMLS:C0263506|ICD9:704.8|MedDRA:10056961|OMIM:260910 Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia. ORPHA:345|SNOMEDCT:77333008|UMLS:C0263506|http://identifiers.org/omim/260910|MESH:C562486|MEDDRA:10056961 http://purl.obolibrary.org/obo/MONDO_0009848 dissecting cellulitis of the scalp|perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial ordo_disease|gard_rare MONDO:0009847 pericardial effusion, chronic biolink:Disease mondo OMIM:260900|UMLS:C1850039|MESH:C564895 Chronic form of pericardial effusion (disease). http://identifiers.org/omim/260900|MESH:C564895|UMLS:C1850039 http://purl.obolibrary.org/obo/MONDO_0009847 chronic pericardial effusion (disease)|cholesterol pericarditis|pericardial effusion (disease), chronic|pericardial effusion, chronic MONDO:0022820 congenital articular rigidity biolink:Disease mondo GARD:0001473 http://purl.obolibrary.org/obo/MONDO_0022820 gard_rare MONDO:0009846 pentosuria biolink:Disease mondo MedDRA:10064170|Orphanet:2843|GARD:0000418|ICD9:271.8|OMIM:260800|ICD10:E74.8|UMLS:C0268162|SCTID:190764000|MESH:C536652 Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. MESH:C536652|http://identifiers.org/omim/260800|UMLS:C0268162|SNOMEDCT:190764000|MEDDRA:10064170|ORPHA:2843 http://purl.obolibrary.org/obo/MONDO_0009846 essential pentosuria|PNTSU|pentosuria|xylitol dehydrogenase deficiency|pentosuria; PNTSU|L-xylulose reductase deficiency|L-Xylulosuria gard_rare|mostly_harmless|ordo_disease MONDO:0009845 pelviscapular dysplasia biolink:Disease mondo MESH:C535550|GARD:0001555|UMLS:C1850040|OMIM:260660|ICD10:Q87.5|SCTID:719299009|Orphanet:93333 Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. SNOMEDCT:719299009|http://identifiers.org/omim/260660|MESH:C535550|ORPHA:93333|UMLS:C1850040 http://purl.obolibrary.org/obo/MONDO_0009845 craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature|Cousin syndrome|pelviscapular dysplasia|familial pelvis-scapular dysplasia|COUSIN syndrome|craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature ordo_malformation_syndrome MONDO:0022821 congenital benign spinal muscular atrophy dominant biolink:Disease mondo GARD:0001474 http://purl.obolibrary.org/obo/MONDO_0022821 gard_rare HGNC:2228 COMT biolink:OntologyClass mondo http://identifiers.org/hgnc/2228 MONDO:0010833 Hirschsprung disease, susceptibility to, 2 biolink:Disease mondo GARD:0002698|OMIM:600155 Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene. http://identifiers.org/omim/600155 http://purl.obolibrary.org/obo/MONDO_0010833 EDNRB Hirschsprung disease|Hirschsprung disease type 2|susceptibility to Hirschsprung disease 2|Hirschsprung disease, susceptibility to, 2|Hirschsprung disease caused by mutation in EDNRB|Hirschsprung disease, susceptibility to, type 2|Hirschsprung disease, susceptibility to, 2; HSCR2|HSCR2 predisposition MONDO:0009844 pellagra-like syndrome biolink:Disease mondo UMLS:C1850052|GARD:0004267|Orphanet:2837|OMIM:260650|MESH:C538352 http://identifiers.org/omim/260650|UMLS:C1850052|MESH:C538352|ORPHA:2837 http://purl.obolibrary.org/obo/MONDO_0009844 pellagra-like syndrome|pellagra-like skin rash-neurological manifestations syndrome|pellagra-like rash with neurologic manifestations|pellagra like syndrome gard_rare CHEBI:33833 heteroarene biolink:ChemicalSubstance mondo A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). http://purl.obolibrary.org/obo/CHEBI_33833 hetarenes|heteroarenes MONDO:0009843 hypomyelinating leukodystrophy 3 biolink:Disease mondo OMIM:260600|GARD:0004266|DOID:0060790|UMLS:C1850053|ICD10:E75.2|MESH:C536319|Orphanet:280293 Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene. http://identifiers.org/omim/260600|ORPHA:280293|DOID:0060790|UMLS:C1850053|MESH:C536319 http://purl.obolibrary.org/obo/MONDO_0009843 leukodystrophy, hypomyelinating, 3; HLD3|leukodystrophy caused by mutation in AIMP1|Pelizaeus-Merzbacher-like disease due to AIMP1 mutation|leukodystrophy, hypomyelinating, type 3|hypomyelinating leukodystrophy type 3|perinatal Sudanophilic leukodystrophy|leukodystrophy, hypomyelinating 3|AIMP1 leukodystrophy|HLD3|leukodystrophy, hypomyelinating, 3 ordo_clinical_subtype|gard_rare MONDO:0010832 Bardet-Biedl syndrome 3 biolink:Disease mondo OMIM:600151|UMLS:C1859564|GARD:0000822|ICD10:Q87.89|MESH:C537911|DOID:0110125 UMLS:C1859564|http://identifiers.org/omim/600151|MESH:C537911|DOID:0110125 http://purl.obolibrary.org/obo/MONDO_0010832 Bardet-Biedl syndrome type 3|Bardet-Biedl syndrome 3|Bardet-Biedl syndrome 3; BBS3|BBS3 gard_rare UBERON:2002067 upper hypural set biolink:AnatomicalEntity mondo Anatomical cluster including hypural 3 and more dorsal hypurals that supports the dorsal series of principal caudal lepidotrichia or rays. The upper hypural set articulates or fuses to ural centra 3, 4 or 5 (polyural terminology) or ural centrum 2 (diural terminology) depending on the teleost subgroup. The upper hypural set is composed of unpaired median bones. http://purl.obolibrary.org/obo/UBERON_2002067 upper hypurals MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome biolink:Disease mondo GARD:0004568|OMIM:600159|ICD10:Q87.0|MESH:C535831|SCTID:719256004|Orphanet:2988|UMLS:C1838562 Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. http://identifiers.org/omim/600159|ORPHA:2988|SNOMEDCT:719256004|UMLS:C1838562|MESH:C535831 http://purl.obolibrary.org/obo/MONDO_0010835 khalifa-Graham syndrome|pterygium colli mental retardation digital anomalies|pterygium colli and intellectual disability with facial and digital anomalies|pterygium colli intellectual disability digital anomalies|pterygium colli and mental retardation with facial and digital anomalies ordo_malformation_syndrome MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain biolink:Disease mondo MESH:C564899|OMIM:260570|UMLS:C1850054 MESH:C564899|UMLS:C1850054|http://identifiers.org/omim/260570 http://purl.obolibrary.org/obo/MONDO_0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain MONDO:0009841 PEHO syndrome biolink:Disease mondo UMLS:C1850055|ICD10:G31.8|GARD:0004264|MESH:C536317|Orphanet:2836|OMIM:260565 PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. UMLS:C0796122|UMLS:C1850055|ORPHA:2836|MESH:C536317|http://identifiers.org/omim/260565 http://purl.obolibrary.org/obo/MONDO_0009841 progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|peho|infantile Cerebellooptic atrophy|peho syndrome|peho-like syndrome|peho syndrome; peho|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|progressive encephalopathy-optic atrophy syndrome ordo_disease|gard_rare MONDO:0010834 HSCR5 biolink:Disease mondo OMIM:600156 http://identifiers.org/omim/600156 http://purl.obolibrary.org/obo/MONDO_0010834 HSCR5|Hirschsprung disease, susceptibility to, 5|Hirschsprung disease, susceptibility to, 5; HSCR5 predisposition CHEBI:33836 benzenoid aromatic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compounds|benzenoid compound MONDO:0010837 primary hyperparathyroidism (disease) biolink:Disease mondo GARD:0008612|DOID:11202|ICD10:E21.0|NCIT:C48280|SCTID:36348003|EFO:0008519|HP:0008200|COHD:136934|ICD9:252.01|MESH:D049950 Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. DOID:11202|SNOMEDCT:36348003|NCIT:C48280|MESH:D049950 http://purl.obolibrary.org/obo/MONDO_0010837 primary hyperparathyroidism|familial benign hypercalcemia|familial primary hyperparathyroidism CHEBI:33837 conjugated protein biolink:ChemicalSubstance mondo Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. http://purl.obolibrary.org/obo/CHEBI_33837 complex protein|conjugated proteins MONDO:0009840 Partington-Anderson syndrome biolink:Disease mondo OMIM:260555|MESH:C536299|UMLS:C1850075|Orphanet:2829|UMLS:CN202825 UMLS:C1850075|UMLS:CN202825|ORPHA:2829|MESH:C536299|http://identifiers.org/omim/260555 http://purl.obolibrary.org/obo/MONDO_0009840 Partington-Anderson syndrome MONDO:0010836 NNO1 biolink:Disease mondo UMLS:C1838502|MESH:C563983|OMIM:600165 MESH:C563983|http://identifiers.org/omim/600165|UMLS:C1838502 http://purl.obolibrary.org/obo/MONDO_0010836 NNO1|nanophthalmos 1; NNO1|nanophthalmos, autosomal dominant|Nanophthalmia 1|nanophthalmos with high hyperopia and angle-closure glaucoma|microphthalmos, simple, autosomal dominant|nanophthalmos 1 CHEBI:33839 macromolecule biolink:ChemicalSubstance mondo A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/CHEBI_33839 polymer molecule|macromolecule|polymers|macromolecules|polymer MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy biolink:Disease mondo ICD10:G12.2|SCTID:763067000|Orphanet:1216|MESH:C563981|OMIM:600175|UMLS:C1838492 Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated. MESH:C563981|SNOMEDCT:763067000|http://identifiers.org/omim/600175|ORPHA:1216|UMLS:C1838492 http://purl.obolibrary.org/obo/MONDO_0010839 autosomal dominant benign distal spinal muscular atrophy|neuronopathy, distal hereditary motor, type VIII|spinal muscular atrophy, distal, congenital nonprogressive|congenital nonprogressive spinal muscular atrophy|spinal muscular atrophy, congenital benign, with contractures|congenital benign spinal muscular atrophy with contractures|neuronopathy, distal hereditary motor, type VIII; HMN8|neuronopathy, distal hereditary motor, type 8|neuropathy, distal hereditary motor, type 8|HMN8 ordo_disease UBERON:2002068 lower hypural set biolink:AnatomicalEntity mondo Anatomical cluster including hypurals 1 and 2 that supports part of the ventral principal caudal lepidotrichia or rays and that separates from the dorsal hypural set through the hypural diastema. The lower hypural set articulates or fuses to ural centra 1 and 2 (polyural terminology) or ural centrum 1 (diural terminology) depending on the teleost subgroup. The lower hypural set is composed of unpaired median bones. http://purl.obolibrary.org/obo/UBERON_2002068 lower hypurals MONDO:0010838 gonadal agenesis biolink:Disease mondo OMIM:600171|NCIT:C27228 A congenital disorder characterized by the complete absence of gonadal tissue. http://identifiers.org/omim/600171|NCIT:C27228 http://purl.obolibrary.org/obo/MONDO_0010838 gonadal agenesis MONDO:0022819 congenital arteriovenous shunt biolink:Disease mondo GARD:0006150 http://purl.obolibrary.org/obo/MONDO_0022819 gard_rare HGNC:2230 COPA biolink:OntologyClass mondo http://identifiers.org/hgnc/2230 HGNC:4893 HGF biolink:OntologyClass mondo http://identifiers.org/hgnc/4893 MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome biolink:Disease mondo GARD:0000409|OMIM:600176|SCTID:763861000|Orphanet:2798|MESH:C538091|UMLS:C1838491|ICD10:G40.4 Pachygyria-intellectual disability-epilepsy syndrome is a rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. MESH:C538091|http://identifiers.org/omim/600176|ORPHA:2798|UMLS:C1838491|SNOMEDCT:763861000 http://purl.obolibrary.org/obo/MONDO_0010840 pachygyria with mental retardation and seizures|pachygyria with intellectual disability and seizures|Kuzniecky syndrome|pachygyria, intellectual disability and epilepsy|pachygyria with mental retardation, seizures, and arachnoid cysts|pachygyria with intellectual disability, seizures, and arachnoid cysts|pachygyria, mental retardation and epilepsy ordo_malformation_syndrome MONDO:0010842 multiple cutaneous and mucosal venous malformations biolink:Disease mondo MESH:C563977|ICD10:Q27.8|OMIM:600195|Orphanet:2451|DOID:0050792|SCTID:699301008 Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa. http://identifiers.org/omim/600195|ORPHA:2451|DOID:0050792|SNOMEDCT:699301008|MESH:C563977 http://purl.obolibrary.org/obo/MONDO_0010842 cutaneous and mucosal venous malformation|VMCM|mucocutaneous venous malformations|Vmcm1|VENOUS malformations, multiple cutaneous and mucosal|VENOUS malformations, multiple cutaneous and mucosal; VMCM ordo_malformation_syndrome CHEBI:33832 organic cyclic compound biolink:ChemicalSubstance mondo Any organic molecule that consists of atoms connected in the form of a ring. http://purl.obolibrary.org/obo/CHEBI_33832 organic cyclic compounds MONDO:0010841 Waardenburg syndrome type 2B biolink:Disease mondo DOID:0110947|OMIM:600193|GARD:0005522|MESH:C536465|UMLS:C1838447 http://identifiers.org/omim/600193|MESH:C536465|UMLS:C1838447|DOID:0110947 http://purl.obolibrary.org/obo/MONDO_0010841 Waardenburg syndrome, type 2B|Waardenburg syndrome type IIB|WS2B|Waardenburg syndrome, type 2B; WS2B gard_rare MONDO:0022812 complement receptor deficiency biolink:Disease mondo SCTID:234628004|UMLS:C0398783|GARD:0009527|ICD9:279.8 A disorder with basis in disruption of a complement receptor. SNOMEDCT:234628004|UMLS:C0398783 http://purl.obolibrary.org/obo/MONDO_0022812 complement receptor deficiency gard_rare HGNC:2235 KLF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/2235 MONDO:0022815 congenital absence of the sternocleidomastoid muscle biolink:Disease mondo UMLS:C2931075|GARD:0009972|MESH:C535977 MESH:C535977|UMLS:C2931075 http://purl.obolibrary.org/obo/MONDO_0022815 gard_rare MONDO:0022817 congenital amputation biolink:Disease mondo GARD:0001471 http://purl.obolibrary.org/obo/MONDO_0022817 gard_rare HGNC:4892 HGD biolink:OntologyClass mondo http://identifiers.org/hgnc/4892 MONDO:0022818 congenital aneurysms of the great vessels biolink:Disease mondo GARD:0001472 http://purl.obolibrary.org/obo/MONDO_0022818 gard_rare MONDO:0010829 CARASIL biolink:Disease mondo MESH:C563990|ICD10:F01.1|Orphanet:199354|GARD:0010424|SCTID:703219008|UMLS:C1838577|OMIM:600142 CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia. UMLS:C1838577|ORPHA:199354|MESH:C563990|http://identifiers.org/omim/600142|SNOMEDCT:703219008 http://purl.obolibrary.org/obo/MONDO_0010829 cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy|Maeda syndrome|cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy|cerebrovascular disease with thin skin, alopecia, and disc disease|cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy; CARASIL|CARASIL|subcortical vascular encephalopathy, progressive ordo_disease MONDO:0009859 PHAVER syndrome biolink:Disease mondo OMIM:261575|GARD:0004465|MESH:C538357|UMLS:C1849928|ICD10:Q87.8|SCTID:723453002|Orphanet:2876 Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects. SNOMEDCT:723453002|UMLS:C1849928|MESH:C538357|ORPHA:2876|http://identifiers.org/omim/261575 http://purl.obolibrary.org/obo/MONDO_0009859 PHAVER syndrome|Powell-Chandra-Saal syndrome|pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects ordo_malformation_syndrome|gard_rare MONDO:0009858 Pfeiffer-Palm-Teller syndrome biolink:Disease mondo OMIM:261560|SCTID:726672000|UMLS:C1849929|ICD10:Q87.1|MESH:C537889|Orphanet:2871|GARD:0004305 Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. UMLS:C1849929|SNOMEDCT:726672000|ORPHA:2871|http://identifiers.org/omim/261560|MESH:C537889 http://purl.obolibrary.org/obo/MONDO_0009858 short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice|short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice|Pfeiffer-Palm-Teller syndrome|Pfeiffer Palm Teller syndrome|PPT syndrome ordo_malformation_syndrome|gard_rare MONDO:0009857 persistent Mullerian duct syndrome biolink:Disease mondo DOID:0050791|GARD:0008435|UMLS:C1849930|Orphanet:2856|ICD10:Q55.8|OMIM:261550|SCTID:702358005|NCIT:C120188|ICD9:752.89|MESH:C536665 Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. MESH:C536665|DOID:0050791|UMLS:C1849930|SNOMEDCT:702358005|NCIT:C120188|ORPHA:2856|http://identifiers.org/omim/261550 http://purl.obolibrary.org/obo/MONDO_0009857 female genital ducts in otherwise normal Male|persistent MULLERIAN duct syndrome, types I and II|persistent Mullerian derivatives|pseudohermaphroditism, Male internal|PMDS|female genital ducts in otherwise normal male|persistent oviduct syndrome|persistent Muellerian duct syndrome|persistent Müllerian derivatives|persistent mullerian duct syndrome, types 1 and 2|persistent MULLERIAN duct syndrome, types I and II; PMDS|persistent Müllerian duct syndrome|hernia uteri inguinale gard_rare|ordo_malformation_syndrome MONDO:0022810 Combarros Calleja Leno syndrome biolink:Disease mondo GARD:0001449 http://purl.obolibrary.org/obo/MONDO_0022810 gard_rare MONDO:0009856 Peters plus syndrome biolink:Disease mondo ICD9:743.44|OMIM:261540|UMLS:C0796012|Orphanet:709|SCTID:449817000|GARD:0008422|NCIT:C123436|ICD10:Q13.4|MESH:C537617|DOID:0070312|DOID:0080201 Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism. SNOMEDCT:449817000|UMLS:C0796012|DOID:0070312|NCIT:C123436|DOID:0080201|http://identifiers.org/omim/261540|MESH:C537617|ORPHA:709 http://purl.obolibrary.org/obo/MONDO_0009856 Peters anomaly with short limb dwarfism|Peters anomaly with short-limb dwarfism|Krause-van Schooneveld-Kivlin syndrome|Krause-Kivlin syndrome|Peters-plus syndrome|Peters anomaly-short limb dwarfism syndrome gard_rare|ordo_malformation_syndrome MONDO:0009855 d-bifunctional protein deficiency biolink:Disease mondo DOID:0090031|SCTID:238068007|ICD10:E71.3|UMLS:C1533628|ICD9:277.6|Orphanet:300|UMLS:C0342870|GARD:0004539|OMIM:261515|NCIT:C119676|UMLS:CN203333 D-bifunctional protein deficiency (DBP deficiency)is a genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease. UMLS:C0342870|UMLS:C1533628|UMLS:CN203333|NCIT:C119676|SNOMEDCT:238068007|ORPHA:300|http://identifiers.org/omim/261515|MESH:C536663|DOID:0090031 http://purl.obolibrary.org/obo/MONDO_0009855 peroxisomal multifunctional enzyme deficiency|17-Beta-hydroxysteroid dehydrogenase 4 deficiency|D-bifunctional enzyme deficiency|bifunctional enzyme deficiency|peroxisomal multifunctional enzyme (MFE2) deficiency|17-BETA-hydroxysteroid dehydrogenase IV deficiency|peroxisomal bifunctional enzyme deficiency|pseudo-Zellweger syndrome|multifunctional enzyme deficiency|d-bifunctional protein deficiency|Pbfe deficiency|DBP deficiency gard_rare|ordo_disease MONDO:0010822 Warburg micro syndrome 1 biolink:Disease mondo ICD10:Q87.0|DOID:0110716|OMIM:600118 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene. http://identifiers.org/omim/600118|DOID:0110716 http://purl.obolibrary.org/obo/MONDO_0010822 micro syndrome 1|Warburg micro syndrome caused by mutation in RAB3GAP1|WARBURG micro syndrome 1; WARBM1|Warburg micro syndrome 1|micro syndrome|Warburg micro syndrome type 1|RAB3GAP1 Warburg micro syndrome|WARBM1 MONDO:0010821 familial developmental dysphasia biolink:Disease mondo SCTID:721220004|OMIM:600117|Orphanet:1799|MESH:C563997|GARD:0001823|UMLS:C1838630|ICD10:F80.1 Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. MESH:C563997|SNOMEDCT:721220004|http://identifiers.org/omim/600117|ORPHA:1799|UMLS:C1838630 http://purl.obolibrary.org/obo/MONDO_0010821 specific language impairment|Billard-Toutain-Maheut syndrome|developmental language disorder|dysphasia, familial developmental|developmental dysphasia familial|FOXP2-associated dysphasia gard_rare|ordo_clinical_syndrome MONDO:0009854 peroneus tertius muscle, absence of biolink:Disease mondo OMIM:261400 http://identifiers.org/omim/261400 http://purl.obolibrary.org/obo/MONDO_0009854 peroneus tertius muscle, absence of MONDO:0009853 Imerslund-Grasbeck syndrome biolink:Disease mondo SCTID:360495000|GARD:0007006|OMIMPS:261100|ICD10:D51.1|Orphanet:35858|ICD9:281.3 Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. ORPHA:35858|SNOMEDCT:360495000 http://purl.obolibrary.org/obo/MONDO_0009853 Gräsbeck-Imerslund disease|enterocyte cobalamin malabsorption|defect of enterocyte intrinsic factor receptor|selective cobalamin malabsorption with proteinuria|juvenile megaloblastic Anemia|Imerslund-Grasbeck syndrome|Imerslund-Gräsbeck syndrome|familial megaloblastic anemia ordo_disease MONDO:0010824 disorder of sex development-intellectual disability syndrome biolink:Disease mondo Orphanet:2983|ICD10:Q56.3|MESH:C535693|SCTID:719450007|GARD:0004550|OMIM:600122 Verloes-Gillerot-Fryns syndrome is a rare association of malformations. SNOMEDCT:719450007|http://identifiers.org/omim/600122|ORPHA:2983|MESH:C535693 http://purl.obolibrary.org/obo/MONDO_0010824 Verloes-Gillerot-Fryns syndrome|pseudohermaphroditism-intellectual disability syndrome|Verloes syndrome|male pseudohermaphroditism/intellectual disability syndrome, Verloes type|disorder of sex development intellectual disability|Verloes Gillerot Fryns syndrome|male pseudohermaphroditism/mental retardation syndrome, Verloes type|Male pseudohermaphroditism intellectual disability syndrome, Verloes type ordo_disease MONDO:0009852 congenital intrinsic factor deficiency biolink:Disease mondo ICD10:D51.0|SCTID:34925000|MedDRA:10070440|GARD:0003024|DOID:0050734|ICD9:281.3|OMIM:261000|Orphanet:332|MESH:C563242 Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities. MESH:C563242|UMLS:C0340957|SNOMEDCT:34925000|MEDDRA:10070440|http://identifiers.org/omim/261000|ORPHA:332|DOID:0050734 http://purl.obolibrary.org/obo/MONDO_0009852 intrinsic factor, congenital deficiency of|intrinsic factor deficiency|congenital pernicious anemia due to defect of intrinsic factor|IFD|congenital pernicious anemia|pernicious Anemia, congenital, due to defect of intrinsic Factor|intrinsic factor deficiency; IFD|gastric intrinsic factor deficiency|intrinsic factor deficiency|hereditary intrinsic factor deficiency|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency ordo_disease MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 biolink:Disease mondo UMLS:C1838612|MESH:C537608|GARD:0009682|OMIM:600121|Orphanet:309803|ICD10:Q77.3|DOID:0110853 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene. DOID:0110853|ORPHA:309803|http://identifiers.org/omim/600121|MESH:C537608|UMLS:C1838612 http://purl.obolibrary.org/obo/MONDO_0010823 RCDP3|rhizomelic chondrodysplasia punctata, type 3; RCDP3|Alkyglycerone-phosphate synthase deficiency|Rcdp3|AGPS rhizomelic chondrodysplasia punctata|alkylglycerone-phosphate synthase deficiency|Agps deficiency|alkyldihydroxyacetonephosphate synthase deficiency|rhizomelic chondrodysplasia punctata, type 3|rhizomelic chondrodysplasia punctata caused by mutation in AGPS ordo_etiological_subtype|gard_rare CHEBI:33847 monocyclic arene biolink:ChemicalSubstance mondo A monocyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/CHEBI_33847 monocyclic arenes CHEBI:33848 polycyclic arene biolink:ChemicalSubstance mondo A polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/CHEBI_33848 polycyclic arenes|polycyclic aromatic hydrocarbons|PAHs|PAH MONDO:0010826 childhood absence epilepsy biolink:Disease mondo ICD10:G40.A|DOID:1825|OMIMPS:600131|SCTID:50866000|Orphanet:64280|ICD10:G40.3 Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis. ORPHA:64280|DOID:1825|SNOMEDCT:50866000|NCIT:C50436 http://purl.obolibrary.org/obo/MONDO_0010826 pyknolepsy|petit mal seizure|absence seizure predisposition|ordo_disease MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain biolink:Disease mondo OMIM:260970|MESH:C564894|UMLS:C1850022 MESH:C564894|UMLS:C1850022|http://identifiers.org/omim/260970 http://purl.obolibrary.org/obo/MONDO_0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain MONDO:0009850 periodontitis, chronic, adult biolink:Disease mondo UMLS:C0266929|OMIM:260950|SCTID:74797001 SNOMEDCT:74797001|UMLS:C0266929|http://identifiers.org/omim/260950 http://purl.obolibrary.org/obo/MONDO_0009850 periodontitis, adult|periodontitis, chronic MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome biolink:Disease mondo Orphanet:1352|OMIM:600123|UMLS:C1838606|MESH:C563994|ICD10:Q87.8 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. MESH:C563994|http://identifiers.org/omim/600123|ORPHA:1352|UMLS:C1838606 http://purl.obolibrary.org/obo/MONDO_0010825 atrioventricular septal defect with blepharophimosis and anal and radial defects|Houlston-Ironton-Temple syndrome ordo_malformation_syndrome MONDO:0010828 retinitis pigmentosa 11 biolink:Disease mondo GARD:0010383|OMIM:600138|ICD10:H35.5|DOID:0110408|UMLS:C1838601|MESH:C563991 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene. UMLS:C1838601|DOID:0110408|MESH:C563991|http://identifiers.org/omim/600138 http://purl.obolibrary.org/obo/MONDO_0010828 PRPF31 retinitis pigmentosa|RP11|retinitis pigmentosa caused by mutation in PRPF31|retinitis pigmentosa 11; RP11|retinitis pigmentosa type 11|retinitis pigmentosa 11|RP 11 gard_rare MONDO:0010827 retinitis pigmentosa 14 biolink:Disease mondo GARD:0010385|UMLS:C1838603|ICD10:H35.5|OMIM:600132|DOID:0110381 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene. DOID:0110381|UMLS:C1838603|http://identifiers.org/omim/600132 http://purl.obolibrary.org/obo/MONDO_0010827 retinitis pigmentosa caused by mutation in TULP1|retinitis pigmentosa type 14|RP14|retinitis pigmentosa 14|TULP1 retinitis pigmentosa|RP 14|retinitis pigmentosa 14; RP14 gard_rare MONDO:0022808 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022808 MONDO:0022809 Colver Steer Godman syndrome biolink:Disease mondo GARD:0001448 http://purl.obolibrary.org/obo/MONDO_0022809 gard_rare MONDO:0010831 familial caudal dysgenesis biolink:Disease mondo ICD10:Q87.8|GARD:0000215|NCIT:C99054|SCTID:722493007|OMIM:600145|GARD:0004751|Orphanet:1768 Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. http://identifiers.org/omim/600145|ORPHA:1768|NCIT:C99054|SNOMEDCT:722493007 http://purl.obolibrary.org/obo/MONDO_0010831 sacral agenesis|Sdam|caudal regression|SDAM|familial caudal dysgenesis|caudal dysgenesis syndrome|Rudd-Klimek syndrome|caudal dysgenesis familial type|sacral defect with anterior meningocele|caudal regression syndrome|sirenomelia ordo_malformation_syndrome|gard_rare CHEBI:33842 aromatic annulene biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33842 aromatic annulenes MONDO:0010830 neuronal ceroid lipofuscinosis 8 biolink:Disease mondo SCTID:703526007|Orphanet:228354|ICD10:E75.4|OMIM:600143|DOID:0110723 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene. ORPHA:228354|http://identifiers.org/omim/600143|SNOMEDCT:703526007|DOID:0110723 http://purl.obolibrary.org/obo/MONDO_0010830 CLN8|neuronal ceroid lipofuscinosis type 8|ceroid lipofuscinosis, neuronal, 8|ceroid lipofuscinosis, neuronal, 8; CLN8|CLN8|ceroid lipofuscinosis, neuronal, type 8|CLN8 disease|CLN8 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in CLN8 ordo_etiological_subtype MONDO:0022800 collagenopathy type 2 alpha 1 biolink:Disease mondo HGNC:2200|GARD:0009246|UMLS:C2931073|MESH:C535964 Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. MESH:C535964|UMLS:C2931073 http://purl.obolibrary.org/obo/MONDO_0022800 COL2A1 disease or disorder|collagen II|COL2A1|disease or disorder caused by mutation in COL2A1|cartilage collagen gard_rare MONDO:0022802 Collins-Sakati syndrome biolink:Disease mondo GARD:0001429 http://purl.obolibrary.org/obo/MONDO_0022802 Collins Sakati syndrome gard_rare MONDO:0022803 coloboma porencephaly hydronephrosis biolink:Disease mondo GARD:0001439 http://purl.obolibrary.org/obo/MONDO_0022803 gard_rare MONDO:0022804 colobomata unilobar lung heart defect biolink:Disease mondo GARD:0001442 http://purl.obolibrary.org/obo/MONDO_0022804 gard_rare HP:0002186 Apraxia biolink:PhenotypicFeature mondo UMLS:C0003635|MSH:D001072|SNOMEDCT_US:68345001|SNOMEDCT_US:6950007 A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. http://purl.obolibrary.org/obo/HP_0002186 Apraxias HGNC:20914 BLOC1S3 biolink:OntologyClass mondo http://identifiers.org/hgnc/20914 HP:0100737 Abnormal hard palate morphology biolink:PhenotypicFeature mondo UMLS:C4021983 http://purl.obolibrary.org/obo/HP_0100737 Abnormality of the hard palate|Abnormality of the secondary palate MONDO:0022805 colonic malakoplakia biolink:Disease mondo GARD:0006137 http://purl.obolibrary.org/obo/MONDO_0022805 gard_rare HGNC:2244 COQ7 biolink:OntologyClass mondo http://identifiers.org/hgnc/2244 HP:0002185 Neurofibrillary tangles biolink:PhenotypicFeature mondo MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400 Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. http://purl.obolibrary.org/obo/HP_0002185 Neurofibrillary tangles composed of disordered microtubules in neurons|Paired helical filaments MONDO:0010819 Stargardt disease 3 biolink:Disease mondo OMIM:600110|MESH:C535805|UMLS:C1838644 UMLS:C1838644|MESH:C535805|http://identifiers.org/omim/600110 http://purl.obolibrary.org/obo/MONDO_0010819 Stargardt disease 3|Stargardt disease type 3|STGD3|macular dystrophy with flecks, type 3|Stargardt disease 3; STGD3|Stargardt-like macular dystrophy, autosomal dominant MONDO:0010818 retinitis pigmentosa 12 biolink:Disease mondo GARD:0010376|DOID:0110358|MESH:C563999|OMIM:600105|UMLS:C1838647|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene. UMLS:C1838647|DOID:0110358|MESH:C563999|http://identifiers.org/omim/600105 http://purl.obolibrary.org/obo/MONDO_0010818 retinitis pigmentosa 12|RP with or without Pprpe|RP 12|retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium|retinitis pigmentosa type 12|RP with or without preserved Paraarteriole retinal pigment epithelium|RP12|retinitis pigmentosa 12; RP12|CRB1 retinitis pigmentosa|retinitis pigmentosa caused by mutation in CRB1 gard_rare MONDO:0009829 pallidal degeneration, progressive, with retinitis pigmentosa biolink:Disease mondo MESH:C564910|UMLS:C1850101|OMIM:260200 http://identifiers.org/omim/260200|MESH:C564910|UMLS:C1850101 http://purl.obolibrary.org/obo/MONDO_0009829 pallidal degeneration, progressive, with retinitis pigmentosa MONDO:0009828 palant cleft palate syndrome biolink:Disease mondo OMIM:260150|MESH:C538102|GARD:0004198|UMLS:C1850102 MESH:C538102|http://identifiers.org/omim/260150|UMLS:C1850102 http://purl.obolibrary.org/obo/MONDO_0009828 unusual facies, cleft palate, intellectual disability, and limb abnormalities|unusual facies, cleft palate, mental retardation, and limb abnormalities|Palant cleft palate syndrome gard_rare MONDO:0009827 pachyonychia congenita, autosomal recessive biolink:Disease mondo OMIM:260130|MESH:C538094|UMLS:C1850103 http://identifiers.org/omim/260130|UMLS:C1850103|MESH:C538094 http://purl.obolibrary.org/obo/MONDO_0009827 pachyonychia congenita, autosomal recessive speculative MONDO:0009826 PA polymorphism of alpha-2-globulin biolink:Disease mondo OMIM:260100 http://identifiers.org/omim/260100 http://purl.obolibrary.org/obo/MONDO_0009826 PA polymorphism of alpha-2-globulin|Alpha-2-globulin polymorphism Pa MONDO:0009825 5-oxoprolinase deficiency (disease) biolink:Disease mondo GARD:0005681|UMLS:C0268525|MESH:C535322|OMIM:260005|HP:0040142|SCTID:26132002|Orphanet:33572|ICD9:270.8|ICD10:E72.8 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria. http://identifiers.org/omim/260005|SNOMEDCT:26132002|MESH:C535322|UMLS:C0268525|ORPHA:33572 http://purl.obolibrary.org/obo/MONDO_0009825 inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder|oxoprolinuria due to oxoprolinase deficiency|oxoprolinuria due to 5-oxoprolinase deficiency|5-oxoprolinase deficiency; OPLAHD|rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|5-alpha-oxoprolinase deficiency|inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|5-oxoprolinase deficiency|rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|OPLAHD ordo_disease MONDO:0009824 primary hyperoxaluria type 2 biolink:Disease mondo SCTID:40951006|MESH:C536415|ICD10:E74.8|OMIM:260000|Orphanet:93599|ICD9:271.8|NCIT:C123213|GARD:0002836|UMLS:C0268165 Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. SNOMEDCT:40951006|http://identifiers.org/omim/260000|MESH:C536415|UMLS:C0268165|NCIT:C123213|ORPHA:93599 http://purl.obolibrary.org/obo/MONDO_0009824 GRHPR primary hyperoxaluria|glyoxylate reductase/hydroxypyruvate reductase deficiency|primary hyperoxaluria caused by mutation in GRHPR|glyceric aciduria|hyperoxaluria, primary, type II; HP2|hyperoxaluria, primary, type 2|D-glycerate dehydrogenase deficiency|HP2|Oxalosis 2|L-glyceric aciduria|hyperoxaluria, primary, type II|primary hyperoxaluria type II gard_rare|ordo_clinical_subtype MONDO:0009823 primary hyperoxaluria type 1 biolink:Disease mondo MESH:C536414|SCTID:65520001|UMLS:C0268164|ICD10:E74.8|OMIM:259900|ICD9:271.8|Orphanet:93598|NCIT:C123212|GARD:0002835 Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. MESH:C536414|ORPHA:93598|NCIT:C123212|SNOMEDCT:65520001|UMLS:C0268164|http://identifiers.org/omim/259900 http://purl.obolibrary.org/obo/MONDO_0009823 hepatic AGT deficiency|hyperoxaluria, primary, type I|peroxisomal alanine:glyoxylate aminotransferase deficiency|glycolic aciduria|serine pyruvate aminotransferase deficiency|hyperoxaluria, primary, type 1|alanine-glyoxylate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|hyperoxaluria, primary, type I; HP1|AGXT primary hyperoxaluria|Oxalosis 1|HP1|primary hyperoxaluria type I|peroxisomal alanine glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|primary hyperoxaluria caused by mutation in AGXT gard_rare|ordo_clinical_subtype MONDO:0010811 benign prostatic hyperplasia (disease) biolink:Disease mondo ICD9:600.20|EFO:0000284|ICD9:600|NCIT:C2897|OMIM:600082|COHD:198803|HP:0008711|SCTID:266569009|UMLS:C1704272|DOID:11132|MESH:D011470|ICD9:600.0 A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow. UMLS:C1704272|DOID:11132|SNOMEDCT:266569009|http://identifiers.org/omim/600082|NCIT:C2897|MESH:D011470 http://purl.obolibrary.org/obo/MONDO_0010811 prostatic hypertrophy|benign prostatic hyperplasia|benign hyperplasia of prostate|benign hyperplasia of the prostate|BPH|benign prostate hyperplasia|prostate hypertrophy|prostatic hyperplasia, benign|benign prostatic Hypertrophy|benign prostatic hypertrophy|prostatic hyperplasia, benign; BPH|benign prostatic hyperplasia - BPH MONDO:0009822 otoonychoperoneal syndrome biolink:Disease mondo GARD:0004170|OMIM:259780|SCTID:441944007|ICD10:Q87.5|Orphanet:2793|ICD9:759.89|MESH:C564912|UMLS:C1850105 ORPHA:2793|UMLS:C2711794|MESH:C564912|SNOMEDCT:441944007|UMLS:C1850105|http://identifiers.org/omim/259780 http://purl.obolibrary.org/obo/MONDO_0009822 oto-onycho-peroneal syndrome|otoonychoperoneal syndrome gard_rare|ordo_malformation_syndrome MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B biolink:Disease mondo UMLS:C1838657|OMIM:600081|MESH:C564005|NCIT:C131074 An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. http://identifiers.org/omim/600081|NCIT:C131074|MESH:C564005|UMLS:C1838657 http://purl.obolibrary.org/obo/MONDO_0010810 vitamin D 25-Hydroxylase deficiency|vitamin D hydroxylation-deficient rickets type 1b|vitamin D hydroxylation-deficient rickets, type 1B|VDDR1B|vitamin D-dependent rickets, type 1B|Vitam D hydroxylation-deficient rickets type 1b|25-Hydroxyvitamin D3 deficiency, selective|vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1|Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency|CYP2R1 vitamin D-dependent rickets, type 1|vitamin D hydroxylation-deficient rickets, type 1B; VDDR1B MONDO:0009821 lethal osteosclerotic bone dysplasia biolink:Disease mondo Orphanet:1832|UMLS:C1850106|OMIM:259775|MESH:C535282|ICD10:Q78.2|GARD:0000282 Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. ORPHA:1832|MESH:C535282|UMLS:C1850106|http://identifiers.org/omim/259775 http://purl.obolibrary.org/obo/MONDO_0009821 RAINE syndrome|RNS|osteosclerotic bone dysplasia, lethal|Raine syndrome|RAINE syndrome; RNS|combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis ordo_malformation_syndrome MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus biolink:Disease mondo OMIM:600089|MESH:C538111|UMLS:C1838655|Orphanet:28455 UMLS:C1838655|MESH:C538111|http://identifiers.org/omim/600089|ORPHA:28455 http://purl.obolibrary.org/obo/MONDO_0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus MONDO:0009820 osteoporosis-pseudoglioma syndrome biolink:Disease mondo UMLS:C0432252|OMIM:259770|NCIT:C130998|DOID:0060849|Orphanet:2788|MESH:C536063|MedDRA:10052452|ICD10:Q87.5|GARD:0004160 Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. MESH:C536063|UMLS:C0432252|DOID:0060849|NCIT:C130998|http://identifiers.org/omim/259770|ORPHA:2788|MEDDRA:10052452 http://purl.obolibrary.org/obo/MONDO_0009820 osteoporosis pseudoglioma syndrome|OPPG|Ops|ocular form of osteogenesis imperfecta|pseudoglioma with bone fragility|osteoporosis-pseudoglioma syndrome|osteogenesis imperfecta ocular form|osteoporosis-pseudoglioma syndrome; OPPG|osteogenesis imperfecta, ocular form ordo_disease|gard_rare MONDO:0010812 macrocytosis, familial biolink:Disease mondo UMLS:C1838656|OMIM:600084|MESH:C564004 UMLS:C1838656|http://identifiers.org/omim/600084|MESH:C564004 http://purl.obolibrary.org/obo/MONDO_0010812 macrocytosis, familial MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies biolink:Disease mondo UMLS:C1838653|OMIM:600093|MESH:C564003 UMLS:C1838653|http://identifiers.org/omim/600093|MESH:C564003 http://purl.obolibrary.org/obo/MONDO_0010815 spondyloepiphyseal dysplasia tarda with characteristic facies MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome biolink:Disease mondo ICD10:Q87.1|MESH:C536123|UMLS:C1838654|SCTID:720851007|Orphanet:1422|DOID:0060644|OMIM:600092 Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. UMLS:C1838654|DOID:0060644|SNOMEDCT:720851007|http://identifiers.org/omim/600092|ORPHA:1422|MESH:C536123 http://purl.obolibrary.org/obo/MONDO_0010814 Nivelon-Nivelon-Mabille syndrome|chondrodysplasia-disorder of sex development syndrome|chondrodysplasia-pseudohermaphroditism syndrome ordo_malformation_syndrome MONDO:0010817 autosomal dominant nonsyndromic deafness 2A biolink:Disease mondo UMLS:C2677637|DOID:0110558|MESH:C567441|OMIM:600101|ICD10:H90.3 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene. DOID:0110558|http://identifiers.org/omim/600101|MESH:C567441|UMLS:C2677637 http://purl.obolibrary.org/obo/MONDO_0010817 deafness, autosomal dominant 2A|deafness, autosomal dominant type 2A|deafness, autosomal dominant 2A; DFNA2A|DFNA2A|autosomal dominant nonsyndromic deafness type 2A|autosomal dominant deafness 2A|KCNQ4 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4 MONDO:0010816 Qazi Markouizos syndrome biolink:Disease mondo DOID:0050740|GARD:0000371|Orphanet:3010|SCTID:721887007|MESH:C536259|ICD10:Q87.8|UMLS:C2931142|OMIM:600096 Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. DOID:0050740|UMLS:C2931142|ORPHA:3010|http://identifiers.org/omim/600096|MESH:C536259|SNOMEDCT:721887007 http://purl.obolibrary.org/obo/MONDO_0010816 Dysharmonic skeletal maturation muscular fibre disproportion|Dysharmonic skeletal maturation-muscular fiber disproportion syndrome|Puertorican infant hypotonia syndrome|Qazi-Markouizos syndrome|hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion|PUERTO RICAN infant hypotonia syndrome|Dysharmonic skeletal maturation - muscular fibre disproportion ordo_disease|gard_rare HP:0002157 Azotemia biolink:PhenotypicFeature mondo UMLS:C0242528|MSH:D053099|SNOMEDCT_US:445009001 An increased concentration of nitrogen compounds in the blood. http://purl.obolibrary.org/obo/HP_0002157 Azotaemia HGNC:2252 CORO1A biolink:OntologyClass mondo http://identifiers.org/hgnc/2252 HP:0002156 Homocystinuria biolink:PhenotypicFeature mondo UMLS:C0019880|MSH:D006712|SNOMEDCT_US:11282001 An increased concentration of homocystine in the urine. http://purl.obolibrary.org/obo/HP_0002156 High urine homocystine levels MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 biolink:Disease mondo OMIM:600116|GARD:0009642|DOID:0060368|UMLS:C1868675 A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia. http://identifiers.org/omim/600116|UMLS:C1868675|DOID:0060368 http://purl.obolibrary.org/obo/MONDO_0010820 PDJ|JP|autosomal recessive juvenile Parkinson disease type 2|Parkinson disease 2, autosomal recessive juvenile; PARK2|Parkinson disease autosomal recessive, early onset|Parkinsonism, early onset, with diurnal fluctuation|Parkinson disease 2, autosomal recessive juvenile|juvenile parkinsonism|PARK2|autosomal recessive juvenile Parkinson's disease 2|Parkinson disease 2|Parkinson disease, juvenile, autosomal recessive|young-onset Parkinson disease caused by mutation in PRKN|PRKN young-onset Parkinson disease|autosomal recessive juvenile Parkinson disease|Parkinsonism, early-onset, with diurnal fluctuation HP:0002150 Hypercalciuria biolink:PhenotypicFeature mondo UMLS:C0020438|SNOMEDCT_US:71938000|MSH:D053565 http://purl.obolibrary.org/obo/HP_0002150 Elevated urine calcium levels|Hypercalcinuria HP:0002153 Hyperkalemia biolink:PhenotypicFeature mondo MSH:D006947|UMLS:C0020461|SNOMEDCT_US:166689004|SNOMEDCT_US:238142003|SNOMEDCT_US:14140009 An abnormally increased potassium concentration in the blood. http://purl.obolibrary.org/obo/HP_0002153 Elevated serum potassium levels MONDO:0010808 fatal familial insomnia biolink:Disease mondo GARD:0006429|MESH:D034062|NCIT:C84711|DOID:0050433|ICD9:046.72|ICD10:A81.83|Orphanet:466|OMIM:600072|ICD10:A81.8|SCTID:83157008|MedDRA:10072077|UMLS:C0206042 Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances. UMLS:C0206042|ORPHA:466|DOID:0050433|MESH:D034062|MEDDRA:10072077|SNOMEDCT:83157008|NCIT:C84711|http://identifiers.org/omim/600072 http://purl.obolibrary.org/obo/MONDO_0010808 Insomnia familial fatal|fatal familial insomnia|familial fatal insomnia|Insomnia, fatal familial|FFI|fatal familial INSOMNIA; FFI gard_rare|ordo_disease MONDO:0010807 autosomal recessive nonsyndromic deafness 2 biolink:Disease mondo UMLS:C1838701|DOID:0110477|OMIM:600060|ICD10:H90.3|MESH:C564007 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. MESH:C564007|DOID:0110477|UMLS:C1838701|http://identifiers.org/omim/600060 http://purl.obolibrary.org/obo/MONDO_0010807 autosomal recessive deafness 2|autosomal recessive nonsyndromic deafness type 2|autosomal recessive nonsyndromic deafness caused by mutation in MYO7A|neurosensory nonsyndromic recessive deafness 2|deafness, autosomal recessive 2|deafness, autosomal recessive 2; DFNB2|deafness, autosomal recessive type 2|MYO7A autosomal recessive nonsyndromic deafness|DFNB2 MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome biolink:Disease mondo ICD10:G23.1|Orphanet:240085|OMIM:260540|UMLS:CN201680|MESH:C537240|GARD:0004507 PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. UMLS:CN201680|MESH:C537240|http://identifiers.org/omim/260540|ORPHA:240085 http://purl.obolibrary.org/obo/MONDO_0009839 supranuclear palsy, progressive, 1, atypical|progressive supranuclear palsy atypical|Parkinson-dementia syndrome|PSP-p|PSP-parkinsonism|atypical PSP|Steele-Richardson-Olszewski syndrome, atypical ordo_clinical_subtype MONDO:0010809 familial chronic myelocytic leukemia-like syndrome biolink:Disease mondo MESH:C536093|DOID:0060761|GARD:0010141|OMIM:600080|UMLS:C1838670 A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). MESH:C536093|UMLS:C1838670|DOID:0060761|http://identifiers.org/omim/600080 http://purl.obolibrary.org/obo/MONDO_0010809 myelocytic leukemia-like syndrome, familial, chronic|familial CML-like syndrome|CML-like syndrome, familial gard_rare MONDO:0009838 Parana hard-skin syndrome biolink:Disease mondo OMIM:260530|MESH:C564905|ICD10:L91.8|GARD:0002598|NCIT:C126559|UMLS:C1850079|Orphanet:2812 A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death. ORPHA:2812|http://identifiers.org/omim/260530|NCIT:C126559|MESH:C564905|UMLS:C1850079 http://purl.obolibrary.org/obo/MONDO_0009838 Parana hard-skin syndrome|Parana hard skin syndrome|hard skin syndrome, Parana type|hard skin syndrome Parana type|hard-skin syndrome, Parana type ordo_disease MONDO:0009837 choroid plexus papilloma biolink:Disease mondo MedDRA:10008777|NCIT:C3698|SCTID:425868004|EFO:1000177|ICDO:9390/0|ONCOTREE:CPP|OMIM:260500|Orphanet:2807|GARD:0004214|UMLS:C0205770|DOID:2626|ICD10:D33.0|MESH:D020288 Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure. ORPHA:2807|http://identifiers.org/omim/260500|UMLS:C0205770|DOID:2626|MESH:D020288|NCIT:C3698|MEDDRA:10008777|SNOMEDCT:425868004 http://purl.obolibrary.org/obo/MONDO_0009837 childhood papilloma of choroid plexus|pediatric papilloma of choroid plexus|papilloma of choroid plexus; CPP|CPP|papilloma of choroid plexus|papilloma of the choroid plexus|childhood choroid plexus papilloma|choroid plexus papilloma|choroid plexus carcinoma|choroid plexus papilloma, no ICD-O subtype|choroid plexus papilloma NOS (morphologic abnormality)|papilloma, choroid plexus, benign ordo_disease MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex biolink:Disease mondo OMIM:260480|UMLS:C1850080|MESH:C564906 http://identifiers.org/omim/260480|MESH:C564906|UMLS:C1850080 http://purl.obolibrary.org/obo/MONDO_0009836 pancreatitis, sclerosing cholangitis, and sicca complex MONDO:0009835 subacute sclerosing panencephalitis biolink:Disease mondo Orphanet:2806|ICD9:046.2|EFO:0007502|MESH:D013344|NCIT:C85171|DOID:8970|COHD:373408|ICD10:A81.1|UMLS:C0038522|GARD:0007708|OMIM:260470 Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex. ORPHA:2806|UMLS:C0038522|http://identifiers.org/omim/260470|NCIT:C85171|DOID:8970|MESH:D013344 http://purl.obolibrary.org/obo/MONDO_0009835 panencephalitis, SUBACUTE sclerosing|Immunosuppressive measles encephalitis|Subacute sclerosing panencephalitis (disorder) [ambiguous]|SSPE|Dawson encephalitis|subacute sclerosing panencephalitis|Dawson disease|subacute sclerosing leukoencephalopathy|Subacute inclusion body encephalitis|Subacute sclerosing panencephalitis|Van Bogaert's sclerosing leukoencephalitis|Van Bogaert encephalitis|Dawson's encephalitis|Subacute sclerosing leukoencephalitis|Van Bogaert disease gard_rare|ordo_disease MONDO:0009834 obsolete pancreatic insufficiency, combined exocrine biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009834 MONDO:0009833 Shwachman-Diamond syndrome biolink:Disease mondo DOID:0080023|MESH:C537330|Orphanet:811|GARD:0004863|NCIT:C61235|OMIMPS:260400|MedDRA:10067940|SCTID:89454001|DOID:0060479|ICD10:D61.0 Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. ORPHA:811|NCIT:C61235|DOID:0060479|SNOMEDCT:89454001|MEDDRA:10067940|DOID:0080023|MESH:C537330 http://purl.obolibrary.org/obo/MONDO_0009833 Shwachman-Diamond syndrome|pancreatic insufficiency and bone marrow dysfunction|Schwachman-Diamond syndrome|lipomatosis of pancreas, congenital|Shwachman syndrome|Shwachman-Bodian syndrome|Shwachman-Diamond syndrome; SDS|SDS|congenital lipomatosis of pancreas|Shwachman-Bodian-Diamond syndrome|Shwachman-Diamond type metaphyseal dysplasia|Schwachmann-Diamond syndrome ordo_disease|gard_rare MONDO:0010800 Wolfram syndrome, mitochondrial form biolink:Disease mondo MESH:C564012|UMLS:C1838782|OMIM:598500 http://identifiers.org/omim/598500|UMLS:C1838782|MESH:C564012 http://purl.obolibrary.org/obo/MONDO_0010800 Didmoad syndrome, mitochondrial form|diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form|Wolfram syndrome, mitochondrial form CHEBI:33822 organic hydroxy compound biolink:ChemicalSubstance mondo An organic compound having at least one hydroxy group attached to a carbon atom. http://purl.obolibrary.org/obo/CHEBI_33822 organic hydroxy compounds|hydroxy compounds|organic alcohol MONDO:0009832 pancreatic agenesis biolink:Disease mondo Orphanet:2805|ICD10:Q45.0|MESH:C564908|UMLS:C1850096|SCTID:719044008|DOID:0050877|OMIMPS:260370 Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. DOID:0050877|MESH:C564908|SNOMEDCT:719044008|UMLS:C1850096|ORPHA:2805 http://purl.obolibrary.org/obo/MONDO_0009832 partial agenesis of the pancreas|PAGEN1|partial pancreatic agenesis|congenital pancreatic agenesis|pancreatic agenesis type 1|pancreatic agenesis 1 prototype_pattern|ordo_morphological_anomaly MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome biolink:Disease mondo ICD10:Q87.8|GARD:0000347|MESH:C564011|Orphanet:2255|SCTID:722206009|OMIM:600001 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). MESH:C564011|UMLS:C2931296|SNOMEDCT:722206009|ORPHA:2255|http://identifiers.org/omim/600001 http://purl.obolibrary.org/obo/MONDO_0010802 pancreatic agenesis and congenital heart defects|HDCA|heart defects, congenital, and other congenital anomalies; HDCA|pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|Yorifuji-Okuno syndrome|heart defects, congenital, and other congenital anomalies|congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease|hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease|Yorifuji Okuno syndrome ordo_disease MONDO:0009831 malignant pancreatic neoplasm biolink:Disease mondo NCIT:C9005|DOID:1793|KEGG:05212|ICD9:157.2|ICD9:157.1|ICD10:C25.9|ICD9:157.0|EFO:1000359|ICD9:157.8 A malignant neoplasm involving the pancreas. DOID:1793|NCIT:C9005 http://purl.obolibrary.org/obo/MONDO_0009831 cancer of pancreas|malignant pancreatic neoplasm|pancreatic cancer|malignant neoplasm of pancreas|pancreas neoplasm|pancreas cancer|pancreatic tumor|malignant neoplasm of the pancreas|Ca body of pancreas|malignant neoplasm of body of pancreas|Ca head of pancreas|pancreatic neoplasm|malignant pancreas neoplasm|Ca tail of pancreas|malignant neoplasm of head of pancreas|malignant neoplasm of tail of pancreas MONDO:0009830 parkinsonian-pyramidal syndrome biolink:Disease mondo GARD:0009175|OMIM:260300|MESH:C538104|DOID:0060372|Orphanet:171695|UMLS:C1850100|ICD10:G20 A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3. DOID:0060372|UMLS:C1850100|ORPHA:171695|MESH:C538104|http://identifiers.org/omim/260300 http://purl.obolibrary.org/obo/MONDO_0009830 PARK15|autosomal recessive early-onset Parkinson disease 15|pallido-pyramidal syndrome|autosomal recessive early-onset Parkinson's disease 15|parkinsonian-pyramidal syndrome|pallidopyramidal syndrome|Pallidopyramidal syndrome|Parkinson disease 15, autosomal recessive early-onset|pallido-pyramidal disease|autosomal recessive early-onset Parkinson disease type 15|Parkinson disease 15, autosomal recessive early-onset; PARK15 ordo_disease MONDO:0010801 spondylocamptodactyly syndrome biolink:Disease mondo UMLS:C4274762|ICD10:Q77.8|GARD:0004972|MESH:C535779|SCTID:716231009|OMIM:600000|Orphanet:3180|UMLS:C1838781 Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. MESH:C535779|UMLS:C1838781|ORPHA:3180|http://identifiers.org/omim/600000|UMLS:C4274762|SNOMEDCT:716231009 http://purl.obolibrary.org/obo/MONDO_0010801 spondylo camptodactyly syndrome|camptodactyly with cervical platyspondyly|spondylocamptodactyly ordo_malformation_syndrome MONDO:0010804 obsolete BRCATA biolink:Disease mondo OMIM:600048 http://identifiers.org/omim/600048 http://purl.obolibrary.org/obo/MONDO_0010804 breast cancer, 11-22 translocation-associated; BRCATA|moved to 114480|BRCATA|breast cancer, 11-22 translocation-associated MONDO:0010803 Eiken syndrome biolink:Disease mondo UMLS:C1838779|MESH:C564010|Orphanet:79106|OMIM:600002|SCTID:720863002 Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. MESH:C564010|ORPHA:79106|UMLS:C1838779|http://identifiers.org/omim/600002|SNOMEDCT:720863002 http://purl.obolibrary.org/obo/MONDO_0010803 Eiken syndrome|Eiken skeletal dysplasia|bone modeling defect of hands and feet ordo_malformation_syndrome MONDO:0010806 retinitis pigmentosa 13 biolink:Disease mondo GARD:0010388|DOID:0110403|MESH:C564008|UMLS:C1838702|OMIM:600059|ICD10:H35.5 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene. MESH:C564008|DOID:0110403|UMLS:C1838702|http://identifiers.org/omim/600059 http://purl.obolibrary.org/obo/MONDO_0010806 retinitis pigmentosa caused by mutation in PRPF8|RP 13|retinitis pigmentosa type 13|retinitis pigmentosa 13; RP13|RP13|retinitis pigmentosa 13|PRPF8 retinitis pigmentosa gard_rare MONDO:0010805 bladder exstrophy (disease) biolink:Disease mondo SCTID:61758007|DOID:0080174|ICD10:Q64.1|NCIT:C123207|UMLS:C0005689|ICD9:753.5|Orphanet:93930|GARD:0006398|HP:0002836|OMIM:600057 Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. SNOMEDCT:61758007|UMLS:C0005689|NCIT:C123207|ORPHA:93930|http://identifiers.org/omim/600057|DOID:0080174|MESH:D001746 http://purl.obolibrary.org/obo/MONDO_0010805 bladder exstrophy|exstrophy of the bladder|bladder exstrophy and epispadias Complex|exstrophy of bladder|ectopia vesicae|classic exstrophy of the bladder ordo_clinical_subtype HGNC:2263 COX15 biolink:OntologyClass mondo http://identifiers.org/hgnc/2263 HP:0002167 Neurological speech impairment biolink:PhenotypicFeature mondo UMLS:C0037822|MSH:D013064 http://purl.obolibrary.org/obo/HP_0002167 Speech impairment|Speech impediment|Speech disorder HGNC:2260 COX10 biolink:OntologyClass mondo http://identifiers.org/hgnc/2260 NCBITaxon:39087 Arvicolinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_39087 Microtinae HP:0002160 Hyperhomocystinemia biolink:PhenotypicFeature mondo UMLS:C3806347 An increased concentration of homocystine in the blood. http://purl.obolibrary.org/obo/HP_0002160 Elevated blood homocystine|Homocystinemia HP:0002164 Nail dysplasia biolink:PhenotypicFeature mondo UMLS:C1834405 The presence of developmental dysplasia of the nail. http://purl.obolibrary.org/obo/HP_0002164 Dysplastic nails|Atypical nail growth|Onychodysplasia NCBITaxon:693762 Schizaeales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_693762 NCBITaxon:693766 Anemiaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_693766 CHEBI:137419 secondary ammonium ion biolink:ChemicalSubstance mondo An organic cation obtained by protonation of any secondary amino compound; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_137419 a secondary amine|secondary amine(1+) NCBITaxon:426455 Rhipicephalus organism taxon mondo GC_ID:1|PMID:14707501 http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus|Rhipicephalus (Rhipicephalus) NCBITaxon:426442 Ixodinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_426442 NCBITaxon:426441 Amblyomminae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_426441 Eschatocephalinae HGNC:4800 HSD17B10 biolink:OntologyClass mondo http://identifiers.org/hgnc/4800 HGNC:4801 HADHA biolink:OntologyClass mondo http://identifiers.org/hgnc/4801 FOODON:00001301 has food substance analog biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001301 NCBITaxon:426439 Haemaphysalinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_426439 NCBITaxon:426438 Hyalomminae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_426438 NCBITaxon:426437 Rhipicephalinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_426437 HGNC:4803 HADHB biolink:OntologyClass mondo http://identifiers.org/hgnc/4803 HGNC:4805 HAGH biolink:OntologyClass mondo http://identifiers.org/hgnc/4805 HGNC:4806 HAL biolink:OntologyClass mondo http://identifiers.org/hgnc/4806 HGNC:4814 KALRN biolink:OntologyClass mondo http://identifiers.org/hgnc/4814 HGNC:4816 HARS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4816 HGNC:4817 HARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4817 HP:0002102 Pleuritis biolink:PhenotypicFeature mondo UMLS:C0032231|MSH:D010998|SNOMEDCT_US:196075003 Inflammation of the pleura. http://purl.obolibrary.org/obo/HP_0002102 Pleurisy|Inflammation of tissues lining lungs and chest HP:0002103 Abnormal pleura morphology biolink:PhenotypicFeature mondo UMLS:C4025726 An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. http://purl.obolibrary.org/obo/HP_0002103 Abnormality of the pleura HP:0002104 Apnea biolink:PhenotypicFeature mondo UMLS:C0003578|SNOMEDCT_US:1023001|SNOMEDCT_US:248583008|MSH:D001049 Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. http://purl.obolibrary.org/obo/HP_0002104 Apnoea|Apneic episodes|Absence of spontaneous respiration HP:0002105 Hemoptysis biolink:PhenotypicFeature mondo MSH:D006469|SNOMEDCT_US:66857006|UMLS:C0019079|SNOMEDCT_US:6686005 Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. http://purl.obolibrary.org/obo/HP_0002105 Coughing up blood|Haemoptysis|Coughing up blood or blood-stained mucus HGNC:4823 HBA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4823 CHEBI:57869 6-aminopenicillanic acid zwitterion biolink:ChemicalSubstance mondo Zwitterionic form of 6-aminopenicillanic acid arising from migration of a proton from the carboxy group to the 6-amino group; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_57869 (2S,5R,6R)-6-azaniumyl-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate|6-aminopenicillanate|6-azaniumyl-2,2-dimethylpenam-3alpha-carboxylate HGNC:4824 HBA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4824 HGNC:4827 HBB biolink:OntologyClass mondo http://identifiers.org/hgnc/4827 CHEBI:33892 iron coordination entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33892 iron coordination entity|iron coordination entities|iron coordination compounds CHEBI:33893 reagent biolink:ChemicalSubstance mondo A substance used in a chemical reaction to detect, measure, examine, or produce other substances. http://purl.obolibrary.org/obo/CHEBI_33893 reagent|reactivo|reagents|reactif HGNC:4832 HBG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4832 NCBITaxon:715340 Pleosporineae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_715340 CHEBI:33890 cobalt coordination entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entities|cobalt coordination entity|cobalt coordination compounds CHEBI:18291 manganese atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_18291 manganeso|25Mn|manganese|manganum|Mn|Manganese|manganese|Mangan HGNC:4837 HCCS biolink:OntologyClass mondo http://identifiers.org/hgnc/4837 HGNC:4838 SERPIND1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4838 HGNC:4839 HCFC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4839 HGNC:4845 HCN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4845 MONDO:0019052 inborn errors of metabolism biolink:Disease mondo UMLS:C0025521|SCTID:86095007|Orphanet:68367|NCIT:C34816|DOID:655|MESH:D008661|MedDRA:10058097|MedDRA:10062018 Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. SNOMEDCT:86095007|DOID:655|ORPHA:68367|MEDDRA:10058097|UMLS:C0025521|MESH:D008661|NCIT:C34816|MEDDRA:10062018 http://purl.obolibrary.org/obo/MONDO_0019052 rare inherited metabolic disorder|rare metabolic disease|metabolic hereditary disorder|congenital metabolism disorder|inborn metabolism disorder|hereditary metabolic disease|inborn errors of metabolism|inherited metabolic disorder|rare inborn errors of metabolism|inborn error of metabolism|congenital metabolic disorder ordo_group_of_disorders MONDO:0020041 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue biolink:Disease mondo UMLS:CN227739|Orphanet:98086 ORPHA:98086|UMLS:CN227739 http://purl.obolibrary.org/obo/MONDO_0020041 ordo_group_of_disorders MONDO:0019051 obsolete lysosomal disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019051 MONDO:0020040 46,XY disorder of sex development biolink:Disease mondo UMLS:C2751824|MESH:D058490|SCTID:8234004|NCIT:C127171|Orphanet:98085|GARD:0008538 Differences of sex development in individuals with 46,XY karyotype. NCIT:C127171|UMLS:C2751824|MESH:D058490|SNOMEDCT:8234004|ORPHA:98085 http://purl.obolibrary.org/obo/MONDO_0020040 46, XY female|46,XY disorders of Sex development|46,XY differences of Sex development|46,XY DSD|46, XY DSD|XY female|46, XY disorders of sexual development ordo_group_of_disorders MONDO:0019054 congenital limb malformation biolink:Disease mondo Orphanet:68378 ORPHA:68378 http://purl.obolibrary.org/obo/MONDO_0019054 ordo_group_of_disorders MONDO:0019053 peroxisomal disease biolink:Disease mondo DOID:906|NCIT:C85005|Orphanet:68373|ICD9:277.89|SCTID:238059005|ICD10:E71.50|ICD9:277.86|COHD:441268|ICD10:E71.5|UMLS:C0282528 A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. SNOMEDCT:238059005|UMLS:C0282528|ORPHA:68373|DOID:906|NCIT:C85005|MESH:D018901 http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal function disorder|peroxisomal disorder|disorder of peroxisomal function ordo_group_of_disorders MONDO:0019050 inherited hemoglobinopathy biolink:Disease mondo ICD10:D58.0|ICD9:282.7|ICD10:D57.3|COHD:432868|ICD10:D56.4|ICD10:D56.3|ICD10:D57.2|MESH:D006453|ICD10:D56.2|ICD10:D57.1|ICD10:D57.0|ICD10:D56.1|GARD:0012455|ICD10:D56.0|UMLS:C1960031|DOID:2860|UMLS:C0019045|NCIT:C3092|ICD10:D58.9|ICD10:D58.8|ICD10:D57.8|ICD10:D56.9|MedDRA:10060892|SCTID:427306008|ICD10:D56.8|Orphanet:68364|ICD10:D58.1|ICD10:D58.2 An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. ORPHA:68364|UMLS:C0019045|MESH:D006453|UMLS:C1960031|SNOMEDCT:427306008|DOID:2860|MEDDRA:10060892|NCIT:C3092 http://purl.obolibrary.org/obo/MONDO_0019050 Hemoglobinopathies / iron metabolism|hemoglobinopathies|hemoglobinopathy|hereditary hemoglobinopathy ordo_group_of_disorders PATO:0000125 mass biolink:OntologyClass mondo A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter. http://purl.obolibrary.org/obo/PATO_0000125 MONDO:0020049 autosomal anomaly biolink:Disease mondo UMLS:CN227743|Orphanet:98127 A chromosomal anomaly that involves an autosome. ORPHA:98127|UMLS:CN227743 http://purl.obolibrary.org/obo/MONDO_0020049 autosome chromosomal anomaly|chromosomal anomaly of autosome ordo_group_of_disorders MONDO:0020048 internal carotid agenesis biolink:Disease mondo SCTID:722004001|ICD10:Q28.1|GARD:0003012|Orphanet:981 Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography. SNOMEDCT:722004001|ORPHA:981 http://purl.obolibrary.org/obo/MONDO_0020048 internal carotid artery agenesis|agenesis of the internal carotid artery ordo_morphological_anomaly|gard_rare MONDO:0007069 obsolete Adie syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007069 MONDO:0020047 autosomal recessive syndromic cerebellar ataxia biolink:Disease mondo UMLS:CN227742|Orphanet:98099 ORPHA:98099|UMLS:CN227742 http://purl.obolibrary.org/obo/MONDO_0020047 ordo_group_of_disorders MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia biolink:Disease mondo UMLS:CN229259|Orphanet:98098 ORPHA:98098|UMLS:CN229259 http://purl.obolibrary.org/obo/MONDO_0020046 ordo_group_of_disorders MONDO:0020045 autosomal recessive cerebellar ataxia due to a DNA repair defect biolink:Disease mondo UMLS:CN227741|ICD10:G11.3|Orphanet:98097 ORPHA:98097|UMLS:CN227741 http://purl.obolibrary.org/obo/MONDO_0020045 ordo_group_of_disorders MONDO:0007067 pyruvate kinase hyperactivity biolink:Disease mondo MESH:C566310|UMLS:C1863224|EFO:0005840|OMIM:102900 Autosomal dominant phenotype characterized by increase of red blood cell ATP. UMLS:C1863224|http://identifiers.org/omim/102900|MESH:C566310 http://purl.obolibrary.org/obo/MONDO_0007067 adenosine triphosphate, elevated, of erythrocytes|pyruvate kinase hyperactivity MONDO:0007068 adenylosuccinate lyase deficiency biolink:Disease mondo GARD:0000550|ICD9:277.2|ICD10:E79.8|SCTID:15285008|UMLS:C0268126|MESH:C538235|Orphanet:46|DOID:0050762|OMIM:103050 Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. http://identifiers.org/omim/103050|ORPHA:46|UMLS:C0268126|MESH:C538235|DOID:0050762|SNOMEDCT:15285008 http://purl.obolibrary.org/obo/MONDO_0007068 ADSL deficiency|inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder|adenylosuccinase deficiency; ADSLD|rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinase deficiency|inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinase lyase deficiency|rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|Adsl deficiency|ADSLD|adenylosuccinate lyase deficiency ordo_disease MONDO:0020044 autosomal recessive metabolic cerebellar ataxia biolink:Disease mondo UMLS:CN229258|Orphanet:98096 ORPHA:98096|UMLS:CN229258 http://purl.obolibrary.org/obo/MONDO_0020044 ordo_group_of_disorders MONDO:0044014 postpartum thyroiditis biolink:Disease mondo NCIT:C114389|SCTID:52772002|UMLS:C0271815|MESH:D050032 A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum UMLS:C0271815|SNOMEDCT:52772002|NCIT:C114389|MESH:D050032 http://purl.obolibrary.org/obo/MONDO_0044014 thyroiditis, postpartum|thyroiditides, postpartum|post partum thyroiditis|postpartum thyroiditides|post-partum thyroiditis|post-partum thyroiditides|postpartum thyroiditis|thyroiditides, post-partum|thyroiditis, post-partum MONDO:0020043 autosomal recessive congenital cerebellar ataxia biolink:Disease mondo Orphanet:98095 ORPHA:98095 http://purl.obolibrary.org/obo/MONDO_0020043 ordo_group_of_disorders MONDO:0007065 obsolete adenosine deaminase, elevated, hemolytic anemia due to biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007065 MONDO:0044013 puerperal disorder biolink:Disease mondo UMLS:C0034040|SCTID:362973001|MESH:D011644 Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans. MESH:D011644|UMLS:C0034040|SNOMEDCT:362973001 http://purl.obolibrary.org/obo/MONDO_0044013 disorder, puerperal|postpartum disorder|disorders, puerperal|puerperal disorder|disorder of puerperium MONDO:0020042 syndrome with 46,XY disorder of sex development biolink:Disease mondo UMLS:CN206965|Orphanet:98087 UMLS:CN206965|ORPHA:98087 http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY DSD ordo_group_of_disorders MONDO:0007066 adenosine triphosphatase deficiency, anemia due to biolink:Disease mondo OMIM:102800|GARD:0000548|UMLS:C1863225|SCTID:725057008|MESH:C566311|Orphanet:1044 UMLS:C1863225|http://identifiers.org/omim/102800|ORPHA:1044|MESH:C566311|SNOMEDCT:725057008 http://purl.obolibrary.org/obo/MONDO_0007066 adenosine triphosphatase deficiency anemia|anemia due to adenosine triphosphatase deficiency|adenosine triphosphatase deficiency, anemia due to gard_rare MONDO:0007063 obsolete long bone adamantinoma biolink:Disease mondo A adamantinoma that involves the long bone. http://purl.obolibrary.org/obo/MONDO_0007063 MONDO:0007064 adenosine deaminase deficiency biolink:Disease mondo SCTID:44940001|ICD9:277.2|MedDRA:10066367|GARD:0005748|DOID:5810|MESH:C531816|Orphanet:277|OMIM:102700|ICD10:D81.3|NCIT:C3962|CSP:1560-6660|EFO:0009147 Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. MEDDRA:10066367|UMLS:C0392607|http://identifiers.org/omim/102700|NCIT:C3962|MESH:C531816|ORPHA:277|DOID:5810|SNOMEDCT:44940001 http://purl.obolibrary.org/obo/MONDO_0007064 adenosine deaminase deficient severe combined immunodeficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-NEGATIVE, NK cell-NEGATIVE, due to adenosine deaminase deficiency|SCID due to ADA deficiency, early-onset|adenosine deaminase deficiency, partial|SCID due to ADA deficiency, delayed onset|SCID due to ADA deficiency|SCID due to ADA deficiency, late-onset|SCID due to adenosine deaminase deficiency|ADA|ADA deficiency|severe combined immunodeficiency due to ADA deficiency|partial ADA deficiency|ADA-SCID|severe combined immunodeficiency due to adenosine deaminase deficiency gard_rare|ordo_disease MONDO:0007061 acylase, cobalt-activated biolink:Disease mondo OMIM:102590 http://identifiers.org/omim/102590 http://purl.obolibrary.org/obo/MONDO_0007061 acylase, cobalt-activated MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral biolink:Disease mondo OMIM:102650|ICD10:Q71.3|GARD:0000377|MESH:C562417|Orphanet:973 Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia). http://identifiers.org/omim/102650|ORPHA:973|MESH:C562417 http://purl.obolibrary.org/obo/MONDO_0007062 adactylia unilateral|digits 2-5 hypodactyly, unilateral|digits 2-5 oligodactyly, unilateral|terminal transverse defects of hand, unilateral|adactylia, unilateral|Adactyly of hand, unilateral gard_rare|ordo_clinical_subtype MONDO:0007060 spermatogenic failure 6 biolink:Disease mondo OMIM:102530|DOID:0070167|SCTID:236818008 Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene. http://identifiers.org/omim/102530|SNOMEDCT:236818008|DOID:0070167 http://purl.obolibrary.org/obo/MONDO_0007060 spermatogenic failure 6|SPATA16 azoospermia|spermatogenic failure type 6|SPGF6|azoospermia caused by mutation in SPATA16|globozoospermia|spermatozoa, round-headed|acrosome malformation of spermatozoa|spermatogenic failure 6; SPGF6|round-headed spermatozoa MONDO:0020039 46,XX disorder of sex development induced by androgens excess biolink:Disease mondo UMLS:CN227738|Orphanet:98078 ORPHA:98078|UMLS:CN227738 http://purl.obolibrary.org/obo/MONDO_0020039 46,XX DSD induced by androgens excess ordo_group_of_disorders MONDO:0019059 obsolete rare parkinsonian disorder biolink:Disease mondo Orphanet:68402 Rare parkinsonian disorder. ORPHA:68402 http://purl.obolibrary.org/obo/MONDO_0019059 rare parkinsonian disorder|rare hypokinetic movement disorder ordo_group_of_disorders|obsoletion_candidate MONDO:0019056 neuromuscular disease biolink:Disease mondo DOID:440|UMLS:C0027868|ICD9:358|Orphanet:68381|ICD10:G70.9|MedDRA:10029323|ICD9:358.9|MESH:D009468|EFO:1001902 Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions UMLS:C0027868|MESH:D009468|DOID:440|ORPHA:68381|MEDDRA:10029323 http://purl.obolibrary.org/obo/MONDO_0019056 neuromuscular disease ordo_group_of_disorders MONDO:0019055 obsolete mitochondrial disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019055 MONDO:0019058 neurometabolic disease biolink:Disease mondo Orphanet:68385|UMLS:CN205539 ORPHA:68385|UMLS:CN205539 http://purl.obolibrary.org/obo/MONDO_0019058 ordo_group_of_disorders MONDO:0019057 obsolete rare constitutional aplastic anemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019057 MONDO:0020030 obsolete rare genetic renal disease biolink:Disease mondo Orphanet:98056|UMLS:CN206955 ORPHA:98056|UMLS:CN206955 http://purl.obolibrary.org/obo/MONDO_0020030 ordo_group_of_disorders|obsoletion_candidate MONDO:0019041 obsolete rare genetic inherited tumor biolink:Disease mondo Orphanet:68336|UMLS:CN205525 ORPHA:68336|UMLS:CN205525 http://purl.obolibrary.org/obo/MONDO_0019041 rare genetic tumor ordo_group_of_disorders|obsoletion_candidate MONDO:0022693 cerebral calcification cerebellar hypoplasia biolink:Disease mondo GARD:0001201 http://purl.obolibrary.org/obo/MONDO_0022693 gard_rare MONDO:0019040 chromosomal anomaly biolink:Disease mondo DOID:0080014|SCTID:409709004|NCIT:C34470|MESH:D025063|Orphanet:68335|ICD9:758.89 Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) DOID:0080014|MESH:D002869|MESH:D025063|NCIT:C34470|ORPHA:68335|UMLS:C0008625|SNOMEDCT:409709004 http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal disorders|chromosome disorder|chromosomal disorder|autosomal chromosome disorder|disorder, chromosomal|chromosome Abnormality disorder|disorder, chromosome Abnormality|chromosome Abnormality disorders|disorders, chromosomal|chromosome disorder, autosomal|chromosomal disease|disorders, chromosome|chromosomal anomaly|chromosome disorders, autosomal|autosomal chromosome disorders|disorder, chromosome ordo_group_of_disorders MONDO:0022694 cerebral calcifications opalescent teeth phosphaturia biolink:Disease mondo GARD:0001202 http://purl.obolibrary.org/obo/MONDO_0022694 gard_rare MONDO:0019043 obsolete rare genetic skin disease biolink:Disease mondo Orphanet:68346 ORPHA:68346 http://purl.obolibrary.org/obo/MONDO_0019043 rare genodermatosis ordo_group_of_disorders|obsoletion_candidate MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome biolink:Disease mondo Orphanet:68341|OMIMPS:614080 ORPHA:68341 http://purl.obolibrary.org/obo/MONDO_0019042 MCAHS ordo_group_of_disorders MONDO:0022697 athetoid cerebral palsy biolink:Disease mondo ICD10:G80.3|DOID:0050672|SCTID:75019001|UMLS:C0270742|NCIT:C97169|SCTID:230780007|GARD:0010449 A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating. UMLS:C0270742|DOID:0050672|NCIT:C97169|SNOMEDCT:75019001|SNOMEDCT:230780007 http://purl.obolibrary.org/obo/MONDO_0022697 dyskinetic cerebral palsy|athetoid cerebral palsy|athetoid dyskinetic cerebral palsy|cerebral palsy dyskinetic|ADCP gard_rare MONDO:0022698 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022698 MONDO:0022699 cerebral palsy spastic hemiplegic biolink:Disease mondo GARD:0010448 http://purl.obolibrary.org/obo/MONDO_0022699 spastic hemiplegia cerebral palsy|spastic hemiplegic cerebral palsy gard_rare MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest biolink:Disease mondo Orphanet:98074 ORPHA:98074 http://purl.obolibrary.org/obo/MONDO_0020038 MONDO:0020037 obsolete rare gynecological tumor biolink:Disease mondo UMLS:CN206962|Orphanet:98063 Rare female reproductive system neoplasm. ORPHA:98063|UMLS:CN206962 http://purl.obolibrary.org/obo/MONDO_0020037 rare gynaecological neoplasm|rare female reproductive system neoplasm|rare gynaecological cancer obsoletion_candidate|ordo_group_of_disorders MONDO:0020036 obsolete rare nervous system tumor biolink:Disease mondo Orphanet:98062 Rare nervous system cancer. ORPHA:98062 http://purl.obolibrary.org/obo/MONDO_0020036 rare nervous system cancer|rare nervous system neoplasm|nervous system rare tumor obsoletion_candidate|ordo_group_of_disorders MONDO:0020035 rare otorhinolaryngologic tumor biolink:Disease mondo Orphanet:98061|UMLS:CN206960 ORPHA:98061|UMLS:CN206960 http://purl.obolibrary.org/obo/MONDO_0020035 rare ORL neoplasm|rare ORL tumor|rare ORL cancer ordo_group_of_disorders|obsoletion_candidate MONDO:0007078 pseudohypoparathyroidism type 1A biolink:Disease mondo Orphanet:79443|GARD:0005770|UMLS:C2931404|NCIT:C129721|SCTID:58833000|ICD10:E20.1|UMLS:C3494506|OMIM:103580|GARD:0007486|DOID:0080053|ICD9:275.49 Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). http://identifiers.org/omim/103580|SNOMEDCT:58833000|DOID:0080053|NCIT:C129721|UMLS:C3494506|ORPHA:79443|UMLS:C2931404 http://purl.obolibrary.org/obo/MONDO_0007078 Albright hereditary osteodystrophy with multiple hormone resistance|Albright hereditary osteodystrophy-PHP syndrome Ia|Albright hereditary osteodystrophy|PHP 1A|pseudohypoparathyroidism type 1A|AHO-PHP syndrome Ia|pseudohypoparathyroidism, type IA|Albright's hereditary osteodystrophy|PHP1A|pseudohypoparathyroidism, type 1A|AHO|pseudohypoparathyroidism, type IA; PHP1A|PHP1A gard_rare|ordo_disease MONDO:0020034 obsolete rare respiratory tract neoplasm biolink:Disease mondo Orphanet:98060|UMLS:CN206959 Any of the forms of respiratory tract neoplasm that have a rare incidence. ORPHA:98060|UMLS:CN206959 http://purl.obolibrary.org/obo/MONDO_0020034 rare respiratory cancer|rare respiratory tract neoplasm|rare respiratory neoplasm|rare respiratory tumor ordo_group_of_disorders|obsoletion_candidate MONDO:0007079 alcohol dependence biolink:Disease mondo COHD:435243|ICD9:303.90|NCIT:C93040|ICD9:305.0|EFO:0003829|DOID:0050741|OMIM:103780|SCTID:66590003|KEGG:05034 Physical and psychological dependence on alcohol. http://identifiers.org/omim/103780|SNOMEDCT:66590003|NCIT:C93040|DOID:0050741 http://purl.obolibrary.org/obo/MONDO_0007079 alcohol dependence|Aerodigestive tract cancer, squamous cell, alcohol-related, protection against|alcoholism|alcohol dependence, protection against MONDO:0020033 obsolete rare digestive tumor biolink:Disease mondo Orphanet:98059|UMLS:CN206958 Any of the forms of digestive system neoplasm that have a rare incidence. ORPHA:98059|UMLS:CN206958 http://purl.obolibrary.org/obo/MONDO_0020033 rare digestive neoplasm|rare digestive cancer|rare digestive system neoplasm obsoletion_candidate|ordo_group_of_disorders MONDO:0020032 obsolete rare urinary tract tumor biolink:Disease mondo Orphanet:98058|UMLS:CN206957 Rare urinary system benign neoplasm. ORPHA:98058|UMLS:CN206957 http://purl.obolibrary.org/obo/MONDO_0020032 rare urinary tract neoplasm|rare urinary system neoplasm|rare urinary tract cancer obsoletion_candidate|ordo_group_of_disorders MONDO:0007076 obsolete ocular albinism with sensorineural deafness biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007076 MONDO:0022691 cerebello-olivary atrophy biolink:Disease mondo GARD:0001198 http://purl.obolibrary.org/obo/MONDO_0022691 Cerebelloolivary atrophy gard_rare MONDO:0020031 obsolete rare tumor biolink:Disease mondo Orphanet:98057 Rare disease of cellular proliferation. ORPHA:98057 http://purl.obolibrary.org/obo/MONDO_0020031 rare neoplasm (disease)|rare disease of cellular proliferation|rare neoplasm ordo_group_of_disorders|obsoletion_candidate MONDO:0007077 Tietz syndrome biolink:Disease mondo GARD:0007772|UMLS:C0391816|Orphanet:42665|SCTID:403805009|DOID:0090002|ICD9:270.2|MESH:C536919|OMIM:103500 Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. http://identifiers.org/omim/103500|SNOMEDCT:403805009|UMLS:C0391816|DOID:0090002|MESH:C536919|ORPHA:42665 http://purl.obolibrary.org/obo/MONDO_0007077 albinism-deafness of Tietz|Tietz syndrome|hypopigmentation/deafness of Tietz|Tietz albinism-deafness syndrome|hypopigmentation-deafness syndrome|Tietz albinism-deafness syndrome; TADS|TADS ordo_malformation_syndrome|gard_rare MONDO:0007074 ainhum (disease) biolink:Disease mondo SCTID:38528001|HP:0031009|COHD:136912|DOID:11329|NCIT:C84544|ICD10:L94.6|ICD9:136.0|MESH:D000387|GARD:0009512|OMIM:103400|UMLS:C0001860 Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation. UMLS:C0001860|MESH:D000387|SNOMEDCT:38528001|DOID:11329|http://identifiers.org/omim/103400|NCIT:C84544 http://purl.obolibrary.org/obo/MONDO_0007074 Dactylolysis spontanea|Dactylolysis|spontaneous dactylolysis|ainhum MONDO:0007075 alacrima, congenital, autosomal dominant biolink:Disease mondo MESH:C566307|OMIM:103420 MESH:C566307|http://identifiers.org/omim/103420 http://purl.obolibrary.org/obo/MONDO_0007075 alacrimia congenita|alacrimia congenita, autosomal dominant|alacrima, congenital MONDO:0007072 ADULT syndrome biolink:Disease mondo SCTID:720464003|ICD10:Q87.2|DOID:0050601|Orphanet:978|UMLS:C1863204|GARD:0000384|OMIM:103285|MESH:C538052 ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. MESH:C538052|DOID:0050601|SNOMEDCT:720464003|ORPHA:978|http://identifiers.org/omim/103285|UMLS:C1863204 http://purl.obolibrary.org/obo/MONDO_0007072 acro dermato ungual lacrimal tooth syndrome|acro-dermato-ungual-lacrimal-tooth syndrome|acro-dermato-ungual-lacrimal-Tooth syndrome|acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|ADULT syndrome ordo_malformation_syndrome MONDO:0007073 hypoglossia-hypodactyly syndrome biolink:Disease mondo OMIM:103300|ICD10:Q87.2|SCTID:35031005|GARD:0000068|Orphanet:989|ICD9:759.89 Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person. SNOMEDCT:35031005|ORPHA:989|http://identifiers.org/omim/103300 http://purl.obolibrary.org/obo/MONDO_0007073 aglossia adactylia|aglossia-adactylia|oromandibular limb hypoplasia|peromelia with micrognathia|Jussieu syndrome|aglossia-adactylia syndrome|Hanhart syndrome|peromelia with micrognathism|hypoglossia-hypodactylia|hypoglossia-hypodactylia syndrome gard_rare|ordo_malformation_syndrome MONDO:0007070 adiposis dolorosa biolink:Disease mondo Wikipedia:Adiposis_dolorosa|MESH:D000274|OMIM:103200|UMLS:C0001529|Orphanet:36397|MedDRA:10001294|ICD10:E88.2|SCTID:71404003|GARD:0005750|ICD9:272.8|EFO:1000667|DOID:3928|NCIT:C84540 Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy. UMLS:C0001529|MESH:D000274|SNOMEDCT:71404003|DOID:3928|ORPHA:36397|MEDDRA:10001294|http://identifiers.org/omim/103200|NCIT:C84540 http://purl.obolibrary.org/obo/MONDO_0007070 adipose tissue rheumatism|Dercum's disease|lipomatosis dolorosa|Neurolipomatosis|adiposis dolorosa|Adiposalgia|Dercum disease ordo_disease|gard_rare MONDO:0007071 adrenocortical hypofunction, chronic primary congenital biolink:Disease mondo SCTID:12427005|UMLS:C0271740|ICD9:255.41|OMIM:103230|MESH:C562711 SNOMEDCT:12427005|UMLS:C0271740|http://identifiers.org/omim/103230|MESH:C562711 http://purl.obolibrary.org/obo/MONDO_0007071 adrenocortical hypofunction, chronic primary congenital|Addison disease, congenital MONDO:0020029 obsolete rare genetic cardiac disease biolink:Disease mondo UMLS:CN206954|Orphanet:98054 Rare genetic heart disease. ORPHA:98054|UMLS:CN206954 http://purl.obolibrary.org/obo/MONDO_0020029 rare genetic heart disease obsoletion_candidate|ordo_group_of_disorders MONDO:0020028 obsolete rare allergic respiratory disease biolink:Disease mondo Orphanet:98052|UMLS:C1504369 Rare respiratory allergy. UMLS:C1504369|ORPHA:98052 http://purl.obolibrary.org/obo/MONDO_0020028 rare respiratory allergy|rare allergic respiratory disease obsoletion_candidate|ordo_group_of_disorders MONDO:0019049 obsolete rare dystonia biolink:Disease mondo Orphanet:68363 Rare dystonia. ORPHA:68363 http://purl.obolibrary.org/obo/MONDO_0019049 rare dystonia|rare dystonia (disease)|rare dystonic disorder ordo_group_of_disorders|obsoletion_candidate MONDO:0019048 obsolete rare vascular disease biolink:Disease mondo Orphanet:68362 Any of the forms of vascular disease that have a rare incidence. ORPHA:68362 http://purl.obolibrary.org/obo/MONDO_0019048 rare vascular disease obsoletion_candidate|ordo_group_of_disorders MONDO:0019045 obsolete rare sleep disorder biolink:Disease mondo Orphanet:68354 A rare form of sleep disorder. ORPHA:68354 http://purl.obolibrary.org/obo/MONDO_0019045 rare sleep-wake disorder|rare sleep disorder|rare sleep wake disorder ordo_group_of_disorders|obsoletion_candidate MONDO:0019044 tumor of hematopoietic and lymphoid tissues biolink:Disease mondo UMLS:CN205528|Orphanet:68347 ORPHA:68347|UMLS:CN205528 http://purl.obolibrary.org/obo/MONDO_0019044 ordo_group_of_disorders MONDO:0019047 obsolete rare deafness biolink:Disease mondo Orphanet:68361|UMLS:CN227564|NCIT:C36194 Any of the forms of hearing loss that have a rare incidence. NCIT:C36194|UMLS:CN227564|ORPHA:68361 http://purl.obolibrary.org/obo/MONDO_0019047 total deafness|complete deafness|rare hearing loss obsoletion_candidate|ordo_group_of_disorders MONDO:0019046 leukodystrophy biolink:Disease mondo NCIT:C61253|OMIMPS:312080|GARD:0006895|ICD9:330.0|Orphanet:68356|UMLS:C0023520|ICD10:E75.2|UMLS:CN228461|COHD:374912|DOID:0050987|DOID:0060786|SCTID:192781003|DOID:10579|MedDRA:10024381 Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. DOID:0060786|DOID:10579|UMLS:CN228461|MEDDRA:10024381|SNOMEDCT:192781003|ORPHA:68356|NCIT:C61253|DOID:0050987|UMLS:C0023520 http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy, hypomyelinating|hypomyelinating leukoencephalopathy|HLD|hypomyelinating leukodystrophy ordo_group_of_disorders|gard_rare|merged_class MONDO:0019030 obsolete Acanthamoeba keratitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019030 MONDO:0022682 cennamo gangemi syndrome biolink:Disease mondo GARD:0001179 http://purl.obolibrary.org/obo/MONDO_0022682 hydrocephalus cataract microphthalmos gard_rare MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency biolink:Disease mondo Orphanet:67045|ICD10:E23.0|UMLS:C1848068 ORPHA:67045|UMLS:C1848068 http://purl.obolibrary.org/obo/MONDO_0019032 MRGH ordo_clinical_subtype MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia biolink:Disease mondo SCTID:722475006|ICD10:D69.4|Orphanet:67044|UMLS:C4302508 Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. SNOMEDCT:722475006|ORPHA:67044|UMLS:C4302508 http://purl.obolibrary.org/obo/MONDO_0019031 X-linked congenital dyserythropoietic anemia with thrombocytopenia|congenital dyserythropoietic anemia with thombocytopenia|XDAT ordo_disease MONDO:0022685 cerebellar agenesis biolink:Disease mondo GARD:0001187 http://purl.obolibrary.org/obo/MONDO_0022685 gard_rare MONDO:0022687 cerebellar degeneration biolink:Disease mondo DOID:1443|GARD:0006019|NCIT:C84624|SCTID:95646004|UMLS:C0262404|ICD9:331.9 Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. SNOMEDCT:95646004|UMLS:C0262404|DOID:1443|NCIT:C84624 http://purl.obolibrary.org/obo/MONDO_0022687 cerebellum neurodegenerative disease|cerebral degeneration|cerebellar degeneration|Brain degeneration|cerebellar Degeneration|neurodegenerative disease of cerebellum gard_rare MONDO:0007049 acroleukopathy, symmetric biolink:Disease mondo MESH:C566322|UMLS:C1863342|OMIM:102000 http://identifiers.org/omim/102000|UMLS:C1863342|MESH:C566322 http://purl.obolibrary.org/obo/MONDO_0007049 acroleukopathy, symmetric MONDO:0020027 obsolete rare allergic disease biolink:Disease mondo Orphanet:98050|UMLS:CN206951 Rare allergic hypersensitivity disease. ORPHA:98050|UMLS:CN206951 http://purl.obolibrary.org/obo/MONDO_0020027 rare allergic disease|rare allergic hypersensitivity disease|rare allergy obsoletion_candidate|ordo_group_of_disorders MONDO:0020026 obsolete rare female infertility biolink:Disease mondo Orphanet:98049|UMLS:CN227737 Rare female infertility. ORPHA:98049|UMLS:CN227737 http://purl.obolibrary.org/obo/MONDO_0020026 rare female infertility obsoletion_candidate|ordo_group_of_disorders MONDO:0044037 livedo reticularis biolink:Disease mondo UMLS:C0085642|SCTID:238772004|MESH:D054068 A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming. SNOMEDCT:238772004|MESH:D054068|UMLS:C0085642 http://purl.obolibrary.org/obo/MONDO_0044037 livedo racemosa|livedo reticularis PATO:0000146 temperature biolink:OntologyClass mondo A physical quality of the thermal energy of a system. http://purl.obolibrary.org/obo/PATO_0000146 MONDO:0020025 obsolete rare male infertility biolink:Disease mondo Orphanet:98048 Rare male infertility. ORPHA:98048 http://purl.obolibrary.org/obo/MONDO_0020025 rare male infertility obsoletion_candidate|ordo_group_of_disorders MONDO:0007047 punctate palmoplantar keratoderma type III biolink:Disease mondo GARD:0000133|GARD:0000125|DOID:0060362|EFO:1000758|OMIM:101850|UMLS:C0545044|ICD10:Q82.8|MESH:C535653|Orphanet:38 Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later MESH:C535653|DOID:0060362|ORPHA:38|UMLS:C0545044|http://identifiers.org/omim/101850 http://purl.obolibrary.org/obo/MONDO_0007047 collagenous plaques of hand and feet|rare form of Hirschsprung's disease|acrokeratoelastoidosis of Costa|PPKP3|punctate palmoplantar hyperkeratosis type 3|collagenous plaques of hands and feet|punctate palmoplantar keratoderma type 3|palmoplantar keratoderma, punctate type 3|palmoplantar keratoderma, punctate type III; PPKP3|NTIA|aganglionosis, total colonic|palmoplantar keratoderma, punctate type III|ake|acrokeratoelastoidosis|TIA|near-total intestinal aganglionosis ordo_disease MONDO:0020024 obsolete rare infertility biolink:Disease mondo Orphanet:98047|UMLS:CN227735 Rare infertility. ORPHA:98047|UMLS:CN227735 http://purl.obolibrary.org/obo/MONDO_0020024 rare infertility disorder|rare infertility ordo_group_of_disorders|obsoletion_candidate MONDO:0007048 acrokeratosis verruciformis biolink:Disease mondo NCIT:C27519|UMLS:C0265971|OMIM:101900|EFO:1000666|ICD10:Q82.8|MedDRA:10069445|Orphanet:79151|DOID:0050606|ICD9:757.39|SCTID:400085009 A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows. MEDDRA:10069445|NCIT:C27519|SNOMEDCT:400085009|http://identifiers.org/omim/101900|DOID:0050606|UMLS:C0265971|ORPHA:79151 http://purl.obolibrary.org/obo/MONDO_0007048 AKV|AKV of Hopf|Hopf disease|acrokeratosis verruciformis; AKV|acrokeratosis verruciformis|acrokeratosis verruciformis of Hopf ordo_disease MONDO:0007045 acrofacial dysostosis, Catania type biolink:Disease mondo DOID:0060384|SCTID:720419000|GARD:0000494|ICD10:Q75.4|MESH:C538182|UMLS:C2931762|Orphanet:1786|OMIM:101805 Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. DOID:0060384|UMLS:C2931762|MESH:C538182|http://identifiers.org/omim/101805|SNOMEDCT:720419000|ORPHA:1786 http://purl.obolibrary.org/obo/MONDO_0007045 Afd, Catania type|AFD Catania type|Opitz Mollica Sorge syndrome|acrofacial dysostosis, Catania type|Opitz-Caltabiano syndrome|acrofacial dysostosis Catania type ordo_malformation_syndrome MONDO:0020023 respiratory or mediastinal malformation biolink:Disease mondo Orphanet:98045 ORPHA:98045 http://purl.obolibrary.org/obo/MONDO_0020023 ordo_group_of_disorders MONDO:0007046 hereditary papulotranslucent acrokeratoderma biolink:Disease mondo DOID:0060360|OMIM:101840|UMLS:C1863343|EFO:1000708|MESH:C566323 A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. DOID:0060360|UMLS:C1863343|http://identifiers.org/omim/101840|MESH:C566323 http://purl.obolibrary.org/obo/MONDO_0007046 acrokeratoderma, hereditary papulotranslucent MONDO:0044033 posterior leukoencephalopathy syndrome biolink:Disease mondo EFO:1001804|SCTID:450886002|MESH:D054038|NCIT:C78598 An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. SNOMEDCT:450886002|NCIT:C78598|MESH:D054038 http://purl.obolibrary.org/obo/MONDO_0044033 leukoencephalopathy syndrome, Posterior|syndrome, Posterior leukoencephalopathy|syndromes, Posterior leukoencephalopathy|Posterior reversible encephalopathy syndrome|RPLE|reversible occipital parietal encephalopathy|reversible posterior leukoencephalopathy syndrome|leukoencephalopathy syndromes, Posterior|PRES|posterior reversible encephalopathy syndrome|reversible Posterior cerebral edema syndrome|reversible Posterior leukoencephalopathy syndrome MONDO:0020022 central nervous system malformation biolink:Disease mondo MESH:D009421|Orphanet:98044 ORPHA:98044|MESH:D009421 http://purl.obolibrary.org/obo/MONDO_0020022 ordo_group_of_disorders MONDO:0007043 Pfeiffer syndrome biolink:Disease mondo OMIM:101600|SCTID:70410008|NCIT:C99100|ICD10:Q87.0|Orphanet:710|GARD:0007380|UMLS:C0220658|DOID:14705 Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. UMLS:C0220658|UMLS:C2931888|SNOMEDCT:70410008|MESH:C538582|http://identifiers.org/omim/101600|ORPHA:710|DOID:14705|NCIT:C99100 http://purl.obolibrary.org/obo/MONDO_0007043 craniofacial-skeletal-Dermatologic dysplasia|ACS 5|acrocephalosyndactylia type V|Pfeiffer type acrocephalosyndactyly|type V Acrocephalosyndactyly|acrocephalosyndactyly type 5|ACS5|Pfeiffer syndrome|acrocephalosyndactyly type V|acrocephalosyndactyly, type 5|Noack syndrome gard_rare|ordo_malformation_syndrome MONDO:0020021 diaphragmatic or abdominal wall malformation biolink:Disease mondo Orphanet:98043 ORPHA:98043 http://purl.obolibrary.org/obo/MONDO_0020021 ordo_group_of_disorders MONDO:0007044 acrodysostosis 1 with or without hormone resistance biolink:Disease mondo UMLS:C3276228|OMIM:101800|NCIT:C136464 An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding. UMLS:C3276228|NCIT:C136464|http://identifiers.org/omim/101800 http://purl.obolibrary.org/obo/MONDO_0007044 acrodysostosis 1|ADOHR|ACRDYS1|acrodysostosis 1 with or without hormone resistance|acrodysostosis 1 with or without hormone resistance; ACRDYS1 MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen biolink:Disease mondo Orphanet:98041 ORPHA:98041 http://purl.obolibrary.org/obo/MONDO_0020020 ordo_group_of_disorders MONDO:0007041 apert syndrome biolink:Disease mondo SCTID:205258009|MESH:D000168|MedDRA:10002943|OMIM:101200|Orphanet:87|GARD:0005833|UMLS:C0001193|NCIT:C99099|ICD10:Q87.0 Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. ORPHA:87|SNOMEDCT:205258009|MEDDRA:10002943|http://identifiers.org/omim/101200|UMLS:C0001193|MESH:D000168|NCIT:C99099 http://purl.obolibrary.org/obo/MONDO_0007041 syndactylic oxycephaly|type I Acrocephalosyndactyly|ACS 2|ACS 1|acrocephalosyndactyly type I|apert syndrome|acrocephalo-syndactyly type 1|acrocephalosyndactyly, type 2|apert-Crouzon disease|acrocephalosyndactyly type 1|acrocephalosyndactyly, type 1|Vogt Cephalodactyly|ACS1 ordo_malformation_syndrome MONDO:0007042 Saethre-Chotzen syndrome biolink:Disease mondo ICD10:Q87.0|GARD:0007598|OMIM:101400|NCIT:C75034|UMLS:C0175699|SCTID:83015004|Orphanet:794|EFO:0007029|DOID:14768 Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. http://identifiers.org/omim/101400|UMLS:C0175699|NCIT:C75034|SNOMEDCT:83015004|ORPHA:794|DOID:14768 http://purl.obolibrary.org/obo/MONDO_0007042 Saethre-Chotzen syndrome with eyelid anomalies|Chotzen syndrome|ACS3|blepharophimosis, epicanthus inversus, and ptosis 3|Saethre-Chotzen syndrome; SCS|Saethre-Chotzen syndrome|ACS 3|SCS|type III Acrocephalosyndactyly|acrocephalosyndactyly type 3|acrocephalosyndactyly type III|acrocephaly, skull asymmetry, and mild syndactyly|blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)|acrocephalo-syndactyly, type 3|acrocephalosyndactyly, type 3|blepharophimosis, epicanthus inversus, and ptosis 3, formerly gard_rare|ordo_malformation_syndrome PATO:0000141 structure biolink:OntologyClass mondo A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. http://purl.obolibrary.org/obo/PATO_0000141 relational structural quality|conformation MONDO:0007040 Sakati-Nyhan syndrome biolink:Disease mondo ICD10:Q87.0|MESH:C537227|OMIM:101120|DOID:0060359|GARD:0000115|SCTID:403768004|UMLS:C1275079|Orphanet:3128 An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. ORPHA:3128|http://identifiers.org/omim/101120|SNOMEDCT:403768004|MESH:C537227|DOID:0060359|UMLS:C1275079 http://purl.obolibrary.org/obo/MONDO_0007040 ACPS3|Sakati-Nyhan syndrome|acrocephalopolysyndactyly type III|acrocephalopolysyndactyly type III|ACPS 3|ACPS with leg hypoplasia|acrocephalopolysyndactyly type 3|Sakati syndrome|Sakati-Nyhan-Tisdale syndrome|acrocephalopolysyndactyly type 3 gard_rare PATO:0000140 position biolink:OntologyClass mondo A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. http://purl.obolibrary.org/obo/PATO_0000140 relational spatial quality|location|placement MONDO:0020019 digestive tract malformation biolink:Disease mondo Orphanet:98039 ORPHA:98039 http://purl.obolibrary.org/obo/MONDO_0020019 ordo_group_of_disorders MONDO:0020018 cranial malformation biolink:Disease mondo Orphanet:98038 ORPHA:98038 http://purl.obolibrary.org/obo/MONDO_0020018 ordo_group_of_disorders MONDO:0020017 obsolete rare otorhinolaryngologic disease biolink:Disease mondo UMLS:CN206950|Orphanet:98036 Any of the forms of otorhinolaryngologic disease that have a rare incidence. UMLS:CN206950|ORPHA:98036 http://purl.obolibrary.org/obo/MONDO_0020017 rare head and neck disease|rare otorhinolaryngologic disease obsoletion_candidate|ordo_group_of_disorders MONDO:0019038 rare maxillo-facial surgical disease biolink:Disease mondo UMLS:CN205523|Orphanet:68329 UMLS:CN205523|ORPHA:68329 http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillofacial anomaly obsoletion_candidate|ordo_group_of_disorders MONDO:0019037 progressive supranuclear palsy biolink:Disease mondo NCIT:C85028|Orphanet:683|UMLS:C0038868|MedDRA:10036813|GARD:0007471|SCTID:28978003|ICD10:G23.1|ICD9:333.0|MESH:D013494|UMLS:CN205522|DOID:678 Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. NCIT:C85028|UMLS:CN205522|SNOMEDCT:28978003|MEDDRA:10036813|MESH:D013494|DOID:678|UMLS:C0038868|ORPHA:683 http://purl.obolibrary.org/obo/MONDO_0019037 progressive supranuclear ophthalmoplegia|familial progressive supranuclear palsy (type)|PSP syndrome|Steele-Richardson-Olszewski syndrome|supranuclear palsy, progressive ordo_disease GO:0030594 neurotransmitter receptor activity biolink:OntologyClass mondo Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. http://purl.obolibrary.org/obo/GO_0030594 MONDO:0019039 rare hemorrhagic disorder due to a constitutional coagulation factors defect biolink:Disease mondo UMLS:CN227563|Orphanet:68334 UMLS:CN227563|ORPHA:68334 http://purl.obolibrary.org/obo/MONDO_0019039 rare bleeding disorder due to a constitutional coagulation factors defect|rare coagulopathy due to a constitutional coagulation factors defect ordo_group_of_disorders|obsoletion_candidate GO:0030595 leukocyte chemotaxis biolink:OntologyClass mondo The movement of a leukocyte in response to an external stimulus. http://purl.obolibrary.org/obo/GO_0030595 immune cell chemotaxis|leucocyte chemotaxis MONDO:0019034 accessory pancreas biolink:Disease mondo ICD10:Q45.3|Orphanet:674|SCTID:79037006|GARD:0000454|MESH:C536003 Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen. SNOMEDCT:79037006|UMLS:C0266268|MESH:C536003|ORPHA:674 http://purl.obolibrary.org/obo/MONDO_0019034 pancreas accessorium ordo_morphological_anomaly|gard_rare MONDO:0019033 primary cutis verticis gyrata biolink:Disease mondo SCTID:51603000|UMLS:C0263417|ICD9:757.39|GARD:0001643|Orphanet:671|ICD10:Q82.8 Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG). SNOMEDCT:51603000|ORPHA:671|UMLS:C0263417 http://purl.obolibrary.org/obo/MONDO_0019033 cutis verticis gyrata ordo_group_of_disorders|gard_rare GO:0030593 neutrophil chemotaxis biolink:OntologyClass mondo The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. http://purl.obolibrary.org/obo/GO_0030593 MONDO:0019036 amoebiasis due to free-living amoebae biolink:Disease mondo GARD:0012650|UMLS:CN205519|ICD10:B60.2|ICD10:B60.1|Orphanet:68 Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. UMLS:CN205519|ORPHA:68 http://purl.obolibrary.org/obo/MONDO_0019036 ordo_disease|gard_rare MONDO:0019035 pancreatoblastoma biolink:Disease mondo MESH:C537162|UMLS:C0334489|GARD:0004210|NCIT:C4265|EFO:1000446|ICD10:C25.1|DOID:6823|ONCOTREE:PB|Orphanet:677 Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests. NCIT:C4265|UMLS:C0334489|MESH:C537162|DOID:6823|ORPHA:677 http://purl.obolibrary.org/obo/MONDO_0019035 PB|pancreatoblastoma (morphologic abnormality) gard_rare|ordo_disease MONDO:0022672 autosomal dominant cataract biolink:Disease mondo GARD:0001143 A syndromic cataract that has autosomal dominant inheritance. http://purl.obolibrary.org/obo/MONDO_0022672 cataract congenital autosomal dominant gard_rare MONDO:0019021 obsolete pigmented villonodular synovitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019021 MONDO:0022673 autosomal dominant non-nuclear cataract biolink:Disease mondo MESH:C538284|GARD:0001144 MESH:C538284 http://purl.obolibrary.org/obo/MONDO_0022673 cataract congenital dominant non nuclear|autosomal dominant nonnuclear polymorphic congenital cataract|cataract, Nonnuclear polymorphic congenital, autosomal dominant|cataract, polymorphic congenital|PCC|CCP gard_rare MONDO:0019020 PANDAS biolink:Disease mondo UMLS:CN205481|MESH:C537163|Orphanet:66624|GARD:0007312 PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders. ORPHA:66624|UMLS:CN205481|MESH:C537163 http://purl.obolibrary.org/obo/MONDO_0019020 pediatric autoimmune disorders associated with Streptococcus infections|pediatric autoimmune neuropsychiatric disorder associated with Streptococcus|pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections|pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections ordo_disease MONDO:0022675 cataract skeletal anomalies biolink:Disease mondo GARD:0001158 http://purl.obolibrary.org/obo/MONDO_0022675 gard_rare MONDO:0022676 cataract - glaucoma biolink:Disease mondo GARD:0001160 http://purl.obolibrary.org/obo/MONDO_0022676 gard_rare MONDO:0020016 rare neurologic disease with psychiatric involvement biolink:Disease mondo Orphanet:98033|UMLS:CN206949 ORPHA:98033|UMLS:CN206949 http://purl.obolibrary.org/obo/MONDO_0020016 ordo_group_of_disorders|obsoletion_candidate MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 biolink:Disease mondo DOID:0110212|GARD:0001240|ICD10:G60.0|SCTID:763400005|Orphanet:101078|OMIM:310490 X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. http://identifiers.org/omim/310490|SNOMEDCT:763400005|DOID:0110212|ORPHA:101078 http://purl.obolibrary.org/obo/MONDO_0010689 CMT4X|Charcot-Marie-Tooth disease with deafness and intellectual disability|axonal motor sensory neuropathy with deafness and mental retardation|Charcot-Marie-Tooth disease, X-linked recessive, 4|cowchock syndrome|CMTX 4|cowchock syndrome; COWCK|Charcot-Marie-Tooth disease with deafness and mental retardation|NAMSD|Charcot-Marie-Tooth disease X-linked recessive type 4|neuropathy, axonal motor-sensory, with deafness and mental retardation|neuropathy, axonal motor-sensory with deafness and mental retardation|CMTX4|axonal motor sensory neuropathy with deafness and intellectual disability|NADMR|COWCK|neuropathy, axonal motor-sensory with deafness and intellectual disability|X-linked Charcot-Marie-Tooth disease type 4|neuropathy, axonal motor-sensory, with deafness and intellectual disability ordo_disease MONDO:0020015 obsolete rare circulatory system disease biolink:Disease mondo Orphanet:98028|UMLS:CN206948 A rare form of cardiovascular disease. ORPHA:98028|UMLS:CN206948 http://purl.obolibrary.org/obo/MONDO_0020015 rare cardiovascular disease obsoletion_candidate|ordo_group_of_disorders MONDO:0007058 acropectorovertebral dysplasia biolink:Disease mondo OMIM:102510|Orphanet:957|ICD10:Q74.8|MESH:C566319|UMLS:C1863307|GARD:0000512|SCTID:720457000 Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). SNOMEDCT:720457000|UMLS:C1863307|http://identifiers.org/omim/102510|MESH:C566319|ORPHA:957 http://purl.obolibrary.org/obo/MONDO_0007058 acropectorovertebral dysplasia; ACRPV|acropectorovertebral dysplasia F form|acropectorovertebral dysplasia|ACRPV|F syndrome ordo_malformation_syndrome|gard_rare MONDO:0020014 rare disease with odontological manifestation biolink:Disease mondo UMLS:CN206947|Orphanet:98027 ORPHA:98027|UMLS:CN206947 http://purl.obolibrary.org/obo/MONDO_0020014 obsoletion_candidate|ordo_group_of_disorders MONDO:0007059 acrorenal syndrome biolink:Disease mondo OMIM:102520|ICD10:Q87.2|MESH:C563159|UMLS:CN206860|UMLS:C3495490|DOID:0060347|Orphanet:971|SCTID:720458005 Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. DOID:0060347|SNOMEDCT:720458005|UMLS:CN206860|http://identifiers.org/omim/102520|UMLS:C3495490|ORPHA:971|MESH:C563159 http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome ordo_malformation_syndrome MONDO:0020013 rare odontologic disease biolink:Disease mondo UMLS:CN206946|Orphanet:98026 ORPHA:98026|UMLS:CN206946 http://purl.obolibrary.org/obo/MONDO_0020013 obsoletion_candidate|ordo_group_of_disorders MONDO:0007056 acroosteolysis biolink:Disease mondo MESH:D030981|NCIT:C35545|OMIM:102400|SCTID:27201004 A condition that is characterized by degeneration of the distal phalanges. http://identifiers.org/omim/102400|SNOMEDCT:27201004|NCIT:C35545|MESH:D030981 http://purl.obolibrary.org/obo/MONDO_0007056 acroosteolysis MONDO:0020012 systemic or rheumatic disease biolink:Disease mondo UMLS:CN206945|Orphanet:98023 ORPHA:98023|UMLS:CN206945 http://purl.obolibrary.org/obo/MONDO_0020012 rare systemic or rheumatologic disease ordo_group_of_disorders MONDO:0020011 obsolete rare headache disorder biolink:Disease mondo Orphanet:98022 Rare headache disorder. ORPHA:98022 http://purl.obolibrary.org/obo/MONDO_0020011 rare headache|rare headache disorder obsoletion_candidate|ordo_group_of_disorders MONDO:0007057 acroosteolysis dominant type biolink:Disease mondo GARD:0000508|NCIT:C84745|UMLS:C0917715|Orphanet:955|ICD10:M89.5|DOID:2736|UMLS:C2930971|ICD9:756.59|OMIM:102500|SCTID:63122002|MESH:C535663 Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. DOID:2736|NCIT:C84745|http://identifiers.org/omim/102500|SNOMEDCT:63122002|MESH:C531695|UMLS:C2930971|MESH:D031845|UMLS:C0917715|ORPHA:955|MESH:C535663 http://purl.obolibrary.org/obo/MONDO_0007057 HJCYS|acroosteolysis with osteoporosis and changes in skull and mandible|Hajdu-Cheney syndrome; HJCYS|serpentine fibula-polycystic kidneys syndrome|Hajdu-Cheney syndrome|acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|Cheney syndrome|Arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome ordo_malformation_syndrome|gard_rare MONDO:0020010 infectious disease of the nervous system biolink:Disease mondo SCTID:128116006|ICD9:349.89|NCIT:C27590|Orphanet:98010|UMLS:C0597039 A infectious disease that involves the nervous system. UMLS:C0597039|ORPHA:98010|SNOMEDCT:128116006|NCIT:C27590 http://purl.obolibrary.org/obo/MONDO_0020010 nervous system infectious disease|nervous system infectious disorder ordo_group_of_disorders MONDO:0007054 acromial dimples biolink:Disease mondo UMLS:C1863321|OMIM:102350 http://identifiers.org/omim/102350|UMLS:C1863321 http://purl.obolibrary.org/obo/MONDO_0007054 acromial dimples|supraspinous fossae, congenital MONDO:0007055 acromicric dysplasia biolink:Disease mondo ICD10:Q77.8|GARD:0000007|Orphanet:969|ICD9:756.59|SCTID:254090007|OMIM:102370|MESH:C535662 Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. http://identifiers.org/omim/102370|UMLS:C0265287|SNOMEDCT:254090007|ORPHA:969|MESH:C535662 http://purl.obolibrary.org/obo/MONDO_0007055 acromicric dysplasia; ACMICD|acromicric dysplasia|ACMICD|acromicric skeletal dysplasia ordo_malformation_syndrome|gard_rare MONDO:0007052 growth hormone secreting pituitary adenoma 1 biolink:Disease mondo OMIM:102200|GARD:0010959 http://identifiers.org/omim/102200 http://purl.obolibrary.org/obo/MONDO_0007052 Somatotrophinoma, familial|somatotropinoma, familial isolated|PAGH1|PITA1|pituitary adenoma 1, multiple types; PITA1|pituitary adenoma, familial isolated|pituitary adenoma, growth hormone-secreting, 1; PAGH1|isolated familial somatotropinoma|pituitary adenoma, growth hormone-secreting, 1|pituitary adenoma predisposition|pituitary adenoma 1, multiple types|pituitary adenoma, growth hormone-secreting, type 1|familial isolated pituitary adenoma syndrome|acromegaly due to pituitary adenoma 1 MONDO:0010693 nystagmus 1, congenital, X-linked biolink:Disease mondo UMLS:C1839580|OMIM:310700|GARD:0002969 Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene. http://identifiers.org/omim/310700|UMLS:C1839580 http://purl.obolibrary.org/obo/MONDO_0010693 nystagmus 1, congenital, X-linked|Nystagmus, infantile idiopathic, formerly|NYSTAGMUS 1, congenital, X-linked; NYS1|Nystagmus, infantile idiopathic|Nystagmus 1, infantile, X-linked|Nystagmus 1, congenital, X- linked|Xlpan|congenital nystagmus caused by mutation in FRMD7|Nystagmus, congenital motor, 1|NYS1|Nystagmus, infantile periodic alternating, X-linked|FRMD7 congenital nystagmus gard_rare MONDO:0007053 restless legs syndrome 1 biolink:Disease mondo MESH:C538443|UMLS:C3888109|GARD:0009709|OMIM:102300 http://identifiers.org/omim/102300|UMLS:C3888109|MESH:C538443 http://purl.obolibrary.org/obo/MONDO_0007053 restless legs syndrome, susceptibility to, 1|RLS1|acromelalgia, hereditary|Ekbom syndrome|restless legs syndrome, susceptibility to, 1; RLS1 predisposition MONDO:0010692 nuclear ribonucleic acid biolink:Disease mondo OMIM:310650 http://identifiers.org/omim/310650 http://purl.obolibrary.org/obo/MONDO_0010692 nuclear ribonucleic acid|nuclear ribonucleic acid; nRNA|nRNA MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma biolink:Disease mondo Orphanet:964|GARD:0000500|UMLS:CN225973|OMIM:102100|MESH:C535654 http://identifiers.org/omim/102100|UMLS:CN225973|ORPHA:964|MESH:C535654 http://purl.obolibrary.org/obo/MONDO_0007050 acromegaloid changes, cutis verticis gyrata and corneal leukoma|Rosenthal-Kloepfer syndrome|acromegaloid changes, cutis verticis gyrata, and corneal leukoma|acromegaly-cutis verticis gyrata-corneal leukoma syndrome gard_rare MONDO:0010695 occipital hair, white lock of biolink:Disease mondo OMIM:310900 http://identifiers.org/omim/310900 http://purl.obolibrary.org/obo/MONDO_0010695 occipital hair, white lock of MONDO:0007051 acromegaloid facial appearance syndrome biolink:Disease mondo SCTID:720456009|ICD10:Q87.0|MESH:C535655|GARD:0000501|UMLS:C0796280|OMIM:102150|Orphanet:965 Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. http://identifiers.org/omim/102150|SNOMEDCT:720456009|UMLS:C0796280|ORPHA:965|MESH:C535655 http://purl.obolibrary.org/obo/MONDO_0007051 AFA syndrome|acromegaloid facial appearance syndrome|thick lips and oral mucosa gard_rare|ordo_malformation_syndrome MONDO:0010694 nystagmus, myoclonic biolink:Disease mondo GARD:0009605|MESH:C564088|UMLS:C1839579|OMIM:310800 UMLS:C1839579|http://identifiers.org/omim/310800|MESH:C564088 http://purl.obolibrary.org/obo/MONDO_0010694 nystagmus, myoclonic|myoclonic nystagmus gard_rare MONDO:0020009 obsolete rare neurologic disease biolink:Disease mondo UMLS:CN206943|Orphanet:98006 Rare nervous system disease. UMLS:CN206943|ORPHA:98006 http://purl.obolibrary.org/obo/MONDO_0020009 rare nervous system disorder|rare nervous system disease obsoletion_candidate|ordo_group_of_disorders MONDO:0010697 OPEM biolink:Disease mondo UMLS:C1839577|OMIM:311000|MESH:C564087 http://identifiers.org/omim/311000|MESH:C564087|UMLS:C1839577 http://purl.obolibrary.org/obo/MONDO_0010697 ophthalmoplegia, external, and myopia; OPEM|OPEM|myopia-ophthalmoplegia syndrome|ophthalmoplegia, external, and myopia MONDO:0010696 omphalocele, X-linked biolink:Disease mondo OMIM:310980|UMLS:C3275625 http://identifiers.org/omim/310980|UMLS:C3275625 http://purl.obolibrary.org/obo/MONDO_0010696 omphalocele, X-linked MONDO:0020008 obsolete rare immune disease biolink:Disease mondo UMLS:CN206942|Orphanet:98004 Rare immune system disease. UMLS:CN206942|ORPHA:98004 http://purl.obolibrary.org/obo/MONDO_0020008 rare immune system disease obsoletion_candidate|ordo_group_of_disorders MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 biolink:Disease mondo Orphanet:99014|DOID:0110210|OMIM:311070|ICD10:G60.0|UMLS:C1839566|GARD:0000114|SCTID:763460007 X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. http://identifiers.org/omim/311070|ORPHA:99014|SNOMEDCT:763460007|UMLS:C1839566|DOID:0110210 http://purl.obolibrary.org/obo/MONDO_0010699 optic atrophy, sensorineural hearing loss and polyneuropathy|CMT5X|Charcot-Marie-Tooth disease, X-linked recessive, type 5|optic atrophy, polyneuropathy, and deafness|Charcot-Marie-Tooth neuropathy X type 5|Charcot-Marie-Tooth disease, X-linked recessive, 5|Charcot-Marie-Tooth disease X-linked recessive type 5|Charcot-Marie-Tooth neuropathy, X-linked recessive, 5|CMTX5|familial opticoacoustic nerve degeneration and polyneuropathy|X-linked Charcot-Marie-Tooth disease type 5|Charcot-Marie-Tooth disease, X-linked recessive, 5; CMTX5|Charcot-Marie-Tooth neuropathy X-linked recessive 5|Rosenberg-Chutorian syndrome clingen|gard_rare|ordo_disease MONDO:0020007 absence of the pulmonary artery biolink:Disease mondo Orphanet:980|ICD10:Q25.7|UMLS:CN206941 Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age. UMLS:CN206941|ORPHA:980 http://purl.obolibrary.org/obo/MONDO_0020007 ordo_morphological_anomaly MONDO:0010698 optic atrophy 2 biolink:Disease mondo Orphanet:98890|SCTID:721200000|OMIM:311050|MESH:C537125|UMLS:C1839576|GARD:0010199|ICD10:H47.2 Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. http://identifiers.org/omim/311050|MESH:C537125|UMLS:C1839576|ORPHA:98890|SNOMEDCT:721200000 http://purl.obolibrary.org/obo/MONDO_0010698 optic atrophy 2; OPA2|optic atrophy, non-Leber type, with early onset|optic atrophy type 2|non-Leber type optic atrophy with early-onset|optic atrophy, X-linked|OPA2|optic atrophy 2 ordo_disease MONDO:0020006 obsolete rare hematologic disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020006 MONDO:0019027 otopalatodigital syndrome biolink:Disease mondo ICD10:Q87.0|UMLS:CN205496|SCTID:767130007|Orphanet:669|GARD:0007293 Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. SNOMEDCT:767130007|UMLS:CN205496|ORPHA:669 http://purl.obolibrary.org/obo/MONDO_0019027 type 2 (Andre syndrome)|oto-palatal-digital syndrome|Taybi syndrome|oto-palato-digital syndrome ordo_malformation_syndrome MONDO:0019026 autosomal recessive osteopetrosis biolink:Disease mondo Orphanet:667|ICD10:Q78.2|SCTID:367489004|NCIT:C129733|OMIMPS:259700 An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. SNOMEDCT:367489004|UMLS:C1318518|NCIT:C129733|ORPHA:667 http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive malignant osteopetrosis|osteopetrosis (disease), autosomal recessive|autosomal recessive osteopetrosis|infantile malignant osteopetrosis|OPTB|autosomal recessive osteopetrosis (disease)|malignant osteopetrosis ordo_malformation_syndrome MONDO:0019029 segmental odontomaxillary dysplasia biolink:Disease mondo ICD9:524.89|ICD10:K00.4|Orphanet:67039|SCTID:699756005 Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur. ORPHA:67039|SNOMEDCT:699756005 http://purl.obolibrary.org/obo/MONDO_0019029 SOD ordo_disease MONDO:0019028 amoebiasis due to Entamoeba histolytica biolink:Disease mondo Orphanet:67|UMLS:C2930799|MESH:C531613|ICD10:A06.9|ICD10:A06.8|ICD10:A06.7|ICD10:A06.6|ICD10:A06.5|ICD10:A06.4|ICD10:A06.3|ICD10:A06.2|ICD10:A06.1|ICD10:A06.0 A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare. ORPHA:67|UMLS:C2930799|MESH:C531613 http://purl.obolibrary.org/obo/MONDO_0019028 ordo_disease MONDO:0019023 cutaneous mastocytosis biolink:Disease mondo ICDO:9740/1|MESH:D034701|UMLS:C1136033|ONCOTREE:CMCD|NCIT:C7137|EFO:1000886|SCTID:397012002|HP:0200151|ICD10:Q82.2|GARD:0007842|Orphanet:66646|DOID:3663 Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis. DOID:3663|ORPHA:66646|SNOMEDCT:397012002|MESH:D034701|UMLS:C1136033|NCIT:C7137 http://purl.obolibrary.org/obo/MONDO_0019023 CMCD|cutaneous mastocytosis|CM|cutaneous (skin) mastocytosis|cutaneous mastocytosis (disease) ordo_group_of_disorders NCBITaxon:499556 Chapare mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_499556 Chapare virus MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome biolink:Disease mondo Orphanet:66633|UMLS:CN205488 Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. ORPHA:66633|UMLS:CN205488 http://purl.obolibrary.org/obo/MONDO_0019022 ordo_malformation_syndrome MONDO:0019025 extracutaneous mastocytoma biolink:Disease mondo ICDO:9740/1|Orphanet:66662|EFO:1000932|ICD10:C96.2|NCIT:C7136|DOID:4659|SCTID:63175003|UMLS:C0272202 A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003 ORPHA:66662|UMLS:C0272202|SNOMEDCT:63175003|DOID:4659|NCIT:C7136 http://purl.obolibrary.org/obo/MONDO_0019025 extracutaneous mastocytoma ordo_disease MONDO:0010691 Norrie disease biolink:Disease mondo Orphanet:649|NCIT:C118634|OMIM:310600|ICD9:743.8|MESH:C537849|MedDRA:10069760|ICD10:H35.5|GARD:0007224|SCTID:15228007|DOID:0060844 Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. NCIT:C118634|UMLS:C0266526|http://identifiers.org/omim/310600|SNOMEDCT:15228007|ORPHA:649|MESH:C537849|MEDDRA:10069760|DOID:0060844 http://purl.obolibrary.org/obo/MONDO_0010691 ND|Norrie syndrome|Episkopi blindness|fetal iritis syndrome|atrophia bulborum hereditaria|Norrie-Warburg syndrome|NDP|Anderson-Warburg syndrome|pseudoglioma|Norrie-Warburg disease|Norrie disease|Norrie disease; nd ordo_malformation_syndrome|gard_rare MONDO:0010690 congenital stationary night blindness 1A biolink:Disease mondo OMIM:310500|DOID:0110870 Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene. http://identifiers.org/omim/310500|DOID:0110870 http://purl.obolibrary.org/obo/MONDO_0010690 nyctalopia|hemeralopia-myopia|NYX congenital stationary night blindness|night blindness, congenital stationary, type 1A|night blindness, congenital stationary, type 1A; CSNB1A|congenital stationary night blindness caused by mutation in NYX|myopia-night blindness|CSNB1A|congenital stationary night blindness with myopia|complete CSNB X-linked|NBMI|congenital stationary night blindness 1A X-linked|congenital stationary night blindness type 1A|CSNB, complete, X-linked|night blindness, congenital stationary, with myopia MONDO:0019024 mast cell sarcoma biolink:Disease mondo ONCOTREE:MCSL|DOID:355|MESH:D012515|Orphanet:66661|SCTID:118615008|ICD9:202.6|ICD10:C96.2|EFO:1000364|UMLS:C0036221|NCIT:C9348|ICDO:9740/3 A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001) ORPHA:66661|NCIT:C9348|DOID:355|SNOMEDCT:118615008|MESH:D012515|UMLS:C0036221 http://purl.obolibrary.org/obo/MONDO_0019024 sarcoma of mast cell|mast cell sarcoma|MCSL|mast-cell sarcoma|MCS ordo_disease MONDO:0019096 obsolete rare pulmonary hypertension biolink:Disease mondo UMLS:CN227571|Orphanet:71198 Rare pulmonary hypertension. ORPHA:71198|UMLS:CN227571 http://purl.obolibrary.org/obo/MONDO_0019096 rare pulmonary hypertension obsoletion_candidate|ordo_group_of_disorders MONDO:0020085 obsolete mastocytosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020085 MONDO:0019095 plague biolink:Disease mondo ICD10:A20.3|MedDRA:10061416|ICD9:136.8|ICD10:A20.2|ICD10:A20.1|ICD10:A20.9|SCTID:58750007|ICD10:A20.0|DOID:3482|UMLS:C0032064|MESH:D010930|ICD10:A20|NCIT:C85015|ICD9:020|Orphanet:707|MedDRA:10035148|ICD10:A20.8|ICD10:A20.7|ICD9:020.9 Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis. ORPHA:707|SNOMEDCT:58750007|DOID:3482|NCIT:C85015|MEDDRA:10061416|MESH:D010930|MESH:D015009|UMLS:C0032064|UMLS:C0043407|MEDDRA:10035148 http://purl.obolibrary.org/obo/MONDO_0019095 black death|infection by Yersinia pestis|plague|Yersiniosis|pestilential fever|pest ordo_disease MONDO:0020084 lymphoproliferative disease associated with primary immune disease biolink:Disease mondo ICD10:D47.9|Orphanet:98291|UMLS:CN206986 UMLS:CN206986|ORPHA:98291 http://purl.obolibrary.org/obo/MONDO_0020084 ordo_group_of_disorders MONDO:0020083 immunodeficiency-associated lymphoproliferative disease biolink:Disease mondo ICD10:D47.9|Orphanet:98290|UMLS:CN206985 UMLS:CN206985|ORPHA:98290 http://purl.obolibrary.org/obo/MONDO_0020083 ordo_group_of_disorders MONDO:0019098 autoimmune thrombocytopenia biolink:Disease mondo SCTID:128091003|ICD10:D69.3|MedDRA:10050245|UMLS:C0242584|Orphanet:71203 An autoimmune form of thrombocytopenia. ORPHA:71203|MEDDRA:10050245|UMLS:C0242584|SNOMEDCT:128091003 http://purl.obolibrary.org/obo/MONDO_0019098 ordo_group_of_disorders MONDO:0020082 dendritic cell tumor biolink:Disease mondo SCTID:737223000|ICD10:C96.4|UMLS:CN206984|GARD:0008317|Orphanet:98289 A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy. UMLS:CN206984|ORPHA:98289|SNOMEDCT:737223000 http://purl.obolibrary.org/obo/MONDO_0020082 Dendritic cell tumor, NOS|Dendritic cell sarcoma, Not otherwise specified|Dendritic cell sarcoma, NOS|Dendritic cell neoplasm|Dendritic cell tumor, Not otherwise specified ordo_group_of_disorders|gard_rare MONDO:0019097 hemorrhagic disorder due to a constitutional platelet anomaly biolink:Disease mondo Orphanet:71202|ICD10:D69.1|UMLS:CN227572 A hemorrhagic disorder due to a platelet anomaly which occurs from birth. ORPHA:71202|UMLS:CN227572 http://purl.obolibrary.org/obo/MONDO_0019097 rare hemorrhagic disorder due to a constitutional platelet anomaly|rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a constitutional platelet anomaly|rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare coagulopathy due to a constitutional platelet anomaly|rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia ordo_group_of_disorders|obsoletion_candidate MONDO:0020081 macrophage or histiocytic tumor biolink:Disease mondo UMLS:CN206983|Orphanet:98288 UMLS:CN206983|ORPHA:98288 http://purl.obolibrary.org/obo/MONDO_0020081 ordo_group_of_disorders MONDO:0019092 infantile apnea biolink:Disease mondo Orphanet:70590|UMLS:C0745261|UMLS:CN205590|GARD:0006779|SCTID:724229002 Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea. UMLS:C0745261|ORPHA:70590|UMLS:CN205590|SNOMEDCT:724229002 http://purl.obolibrary.org/obo/MONDO_0019092 apnea of infancy ordo_disease MONDO:0019091 bronchopulmonary dysplasia biolink:Disease mondo SCTID:67569000|GARD:0005962|MedDRA:10006475|MESH:D001997|UMLS:C0006287|ICD10:P27.1|Orphanet:70589|NCIT:C90599 Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. UMLS:C0006287|NCIT:C90599|ORPHA:70589|SNOMEDCT:67569000|MEDDRA:10006475|MESH:D001997 http://purl.obolibrary.org/obo/MONDO_0019091 BPD ordo_malformation_syndrome|gard_rare MONDO:0020080 obsolete histiocytic and dendritic cell tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020080 MONDO:0019094 congenital Epstein-Barr virus infection biolink:Disease mondo Orphanet:70596|UMLS:C4274357|SCTID:716660007|ICD10:P35.8 Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection. ORPHA:70596|SNOMEDCT:716660007|UMLS:C4274357 http://purl.obolibrary.org/obo/MONDO_0019094 congenital EBV infection|antenatal Epstein-Barr virus infection|antenatal EBV infection|mother-to-child transmission of Epstein-Barr virus infection ordo_disease MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency biolink:Disease mondo SCTID:234556002|Orphanet:70593|GARD:0011903|ICD10:D80.8|UMLS:C0398711 Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR). ORPHA:70593|SNOMEDCT:234556002|UMLS:C0398711 http://purl.obolibrary.org/obo/MONDO_0019093 specific antibody deficiency ordo_disease MONDO:0019090 obsolete meconium aspiration syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019090 MONDO:0020089 acquired lipodystrophy biolink:Disease mondo MedDRA:10049287|ICD10:E88.1|UMLS:C0877192|Orphanet:98307 An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual. UMLS:C0877192|MEDDRA:10049287|ORPHA:98307 http://purl.obolibrary.org/obo/MONDO_0020089 acquired lipodystrophy (disease) ordo_group_of_disorders MONDO:0020088 familial partial lipodystrophy biolink:Disease mondo DOID:0050440|ICD10:E88.1|MESH:D052496|GARD:0011962|OMIMPS:151660|NCIT:C84708|Orphanet:98306|UMLS:C0271694|SCTID:49292002 Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. MESH:D052496|NCIT:C84708|UMLS:C0271694|ORPHA:98306|SNOMEDCT:49292002|DOID:0050440 http://purl.obolibrary.org/obo/MONDO_0020088 Koberling-Dunnigan syndrome|Dunnigan syndrome|FPLD|lipodystrophy, familial partial|congenital partial lipodystrophy|genetic partial lipodystrophy ordo_group_of_disorders MONDO:0020087 genetic lipodystrophy biolink:Disease mondo ICD10:E88.1|UMLS:C4511302|SCTID:724841000|Orphanet:98305 Genetic lipodystrophy. UMLS:C4511302|SNOMEDCT:724841000|ORPHA:98305 http://purl.obolibrary.org/obo/MONDO_0020087 genetic lipodystrophy|genetic lipodystrophy (disease) ordo_group_of_disorders MONDO:0020086 obsolete idiopathic interstitial pneumonia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020086 MONDO:0019099 obsolete rare soft tissue tumor biolink:Disease mondo Orphanet:71209 Any of the forms of soft tissue neoplasm that have a rare incidence. ORPHA:71209 http://purl.obolibrary.org/obo/MONDO_0019099 rare soft tissue neoplasm|rare mesenchymal tumor ordo_group_of_disorders|obsoletion_candidate MONDO:0020074 progressive myoclonus epilepsy biolink:Disease mondo OMIMPS:254800|MESH:D020191|DOID:891|GARD:0007140|UMLS:C0751778|Orphanet:98261|SCTID:267581004|NCIT:C7636 A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. UMLS:C0751778|NCIT:C7636|MESH:D020191|ORPHA:98261|DOID:891|SNOMEDCT:267581004 http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy|progressive myoclonic epilepsy|familial progressive myoclonic epilepsy|progressive myoclonic epilepsy (disorder) [ambiguous]|epilepsy, progressive myoclonic|PME ordo_group_of_disorders MONDO:0019085 vernal keratoconjunctivitis biolink:Disease mondo Orphanet:70476|GARD:0007854|UMLS:C0022577|SCTID:317349009|ICD10:H16.2 Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition. ORPHA:70476|UMLS:C0022577|SNOMEDCT:317349009 http://purl.obolibrary.org/obo/MONDO_0019085 Spring catarrh|VKC ordo_disease|gard_rare MONDO:0019084 radiation proctitis biolink:Disease mondo ICD9:569.49|Orphanet:70475|ICD10:K62.7|SCTID:235760009|MedDRA:10037766 Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis. ORPHA:70475|SNOMEDCT:235760009|UMLS:C0400827|MEDDRA:10037766 http://purl.obolibrary.org/obo/MONDO_0019084 ordo_disease MONDO:0020073 adolescent-onset epilepsy syndrome biolink:Disease mondo ICD10:G40.4|Orphanet:98260|UMLS:CN206977 UMLS:CN206977|ORPHA:98260 http://purl.obolibrary.org/obo/MONDO_0020073 obsoletion_candidate|ordo_group_of_disorders MONDO:0020072 childhood-onset epilepsy syndrome biolink:Disease mondo UMLS:CN206976|Orphanet:98259|ICD10:G40.4 A epilepsy syndrome that occurs during childhood. UMLS:CN206976|ORPHA:98259 http://purl.obolibrary.org/obo/MONDO_0020072 epilepsy syndrome of childhood|childhood epilepsy syndrome|pediatric epilepsy syndrome|pediatric epilepsy syndrome obsoletion_candidate|ordo_group_of_disorders MONDO:0019087 cholangiocarcinoma biolink:Disease mondo ICDO:8160/3|NCIT:C4436|GARD:0009304|SCTID:312104005|MESH:D018281|ICD10:C22.1|ONCOTREE:CHOL|ICD10:C24.9|UMLS:C0206698|MedDRA:10004593|ICD10:C24.8|EFO:0005221|MedDRA:10008593|DOID:4947|Orphanet:70567|ICD10:C24.0 A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. MESH:D001650|UMLS:C0206698|MEDDRA:10004593|DOID:4947|MESH:D018281|ORPHA:70567|NCIT:C4436|SNOMEDCT:312104005|MEDDRA:10008593 http://purl.obolibrary.org/obo/MONDO_0019087 Cholangiocar.- intra/extrahepatic|cholangiosarcoma|cholangiocarcinoma, malignant|Cholangiocellular carcinoma|cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)|CC|intrahepatic bile duct cancer (cholangiocarcinoma)|adult primary cholangiocarcinoma|adult primary cholangiocellular carcinoma|cholangiocarcinoma|bile duct cancer|CC|CCA ordo_disease MONDO:0020071 infantile epilepsy syndrome biolink:Disease mondo UMLS:CN206975|Orphanet:98258|ICD10:G40.4 A epilepsy syndrome that occurs between 28 days to one year of life.. UMLS:CN206975|ORPHA:98258 http://purl.obolibrary.org/obo/MONDO_0020071 infantile onset epilepsy syndrome|epilepsy syndrome of infancy obsoletion_candidate|ordo_group_of_disorders MONDO:0019086 carcinoma of esophagus biolink:Disease mondo NCIT:C3513|SCTID:372138000|Orphanet:70482|UMLS:C0152018|DOID:1107|EFO:0002916|MedDRA:10030155 Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC). DOID:1107|ORPHA:70482|MEDDRA:10030155|UMLS:C0152018|NCIT:C3513|SNOMEDCT:372138000 http://purl.obolibrary.org/obo/MONDO_0019086 cancer of esophagus|cancer of the esophagus|carcinoma of oesophagus|carcinoma of the esophagus|esophageal cancer, NOS|esophageal cancer|esophagus carcinoma|esophageal carcinoma|cancer of oesophagus|carcinoma of esophagus ordo_group_of_disorders MONDO:0020070 neonatal epilepsy syndrome biolink:Disease mondo ICD10:G40.4|UMLS:CN206974|Orphanet:98257 UMLS:CN206974|ORPHA:98257 http://purl.obolibrary.org/obo/MONDO_0020070 obsoletion_candidate|ordo_group_of_disorders MONDO:0019081 obsolete alopecia universalis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019081 MONDO:0019080 alopecia totalis biolink:Disease mondo UMLS:C0263504|Orphanet:700|SCTID:19754005|MedDRA:10001766|GARD:0000613|ICD10:L63.0|ICD9:704.09 Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous. ORPHA:700|UMLS:C0263504|MEDDRA:10001766|SNOMEDCT:19754005 http://purl.obolibrary.org/obo/MONDO_0019080 alopecia totalis|total alopecia areata ordo_disease MONDO:0019083 Leigh syndrome with cardiomyopathy biolink:Disease mondo ICD10:G31.8|Orphanet:70474|UMLS:CN205578 ORPHA:70474|UMLS:CN205578 http://purl.obolibrary.org/obo/MONDO_0019083 cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency|Leigh disease with myopathy|cardiomyopathy with myopathy due to COX deficiency ordo_disease MONDO:0019082 bullous pemphigoid biolink:Disease mondo Orphanet:703|ICD10:L12.0|NCIT:C84389|DOID:8506|GARD:0005972|COHD:4298692|MESH:D010391|ICD9:694.5|SCTID:77090002|EFO:0007187|ICD10:L12|UMLS:C0030805|ICD10:L12.9 Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis. UMLS:C0030805|ORPHA:703|SNOMEDCT:77090002|MESH:D010391|NCIT:C84389|DOID:8506 http://purl.obolibrary.org/obo/MONDO_0019082 Old Age pemphigus|benign pemphigus|pemphigoid|Parapemphigus|Senile dermatitis herpetiformis|bullous pemphigoid ordo_disease MONDO:0020079 obsolete plasma cell tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0020079 MONDO:0020078 acute myeloid leukemia with recurrent genetic anomaly biolink:Disease mondo NCIT:C7175|Orphanet:98277|ONCOTREE:AMLRGA|GARD:0012758 A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) NCIT:C7175|UMLS:C1275661|ORPHA:98277 http://purl.obolibrary.org/obo/MONDO_0020078 AML with recurrent Genetic abnormalities|AML with recurrent genetic anomaly|acute myeloid Leukemia with recurrent Genetic abnormalities|acute myeloid Leukemia with balanced Translocations/Inversions gard_rare|ordo_group_of_disorders MONDO:0020077 myelodysplastic/myeloproliferative disease biolink:Disease mondo MESH:D054437|Orphanet:98275|GARD:0009351 Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS. ORPHA:98275|MESH:D054437|UMLS:C1301355 http://purl.obolibrary.org/obo/MONDO_0020077 ordo_group_of_disorders MONDO:0020076 myeloproliferative neoplasm biolink:Disease mondo ICDO:9960/3|GARD:0009319|EFO:0004251|SCTID:425333006|Orphanet:98274|EFO:0002428|ONCOTREE:MPN|UMLS:C1292778|ICD10:D47.1|DOID:2226|NCIT:C4345|ICD9:238.79|MedDRA:10028576|ICDO:9975/1 A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008) DOID:2226|MEDDRA:10028576|UMLS:C1292778|NCIT:C4345|SNOMEDCT:425333006|UMLS:C0027022|MESH:D009196|NCIT:C103126|ORPHA:98274 http://purl.obolibrary.org/obo/MONDO_0020076 MPD|chronic myeloproliferative disorder|myeloproliferative tumor|myeloproliferative disorder|chronic myeloproliferative neoplasm|CMPD|chronic myeloproliferative disorders|CMPD, U|MPN|chronic myeloproliferative disease|myeloproliferative neoplasm|myeloproliferative neoplasm, chronic|myeloproliferative neoplasms ordo_group_of_disorders MONDO:0020075 genetic non-syndromic obesity biolink:Disease mondo Orphanet:98267 ORPHA:98267 http://purl.obolibrary.org/obo/MONDO_0020075 genetic isolated obesity|genetic non-syndromic obesity|monogenic obesity due to a leptin-melanocortin pathway anomaly|monogenic isolated obesity ordo_group_of_disorders HGNC:30391 IFT172 biolink:OntologyClass mondo http://identifiers.org/hgnc/30391 RO:0002598 capable of positively regulating biolink:OntologyClass mondo Holds between c and p if and only if c is capable of some activity a, and a positively regulates p. http://purl.obolibrary.org/obo/RO_0002598 HP:0004921 Abnormal magnesium concentration biolink:PhenotypicFeature mondo UMLS:C4020826|UMLS:C4025274 An abnormality of magnesium ion homeostasis. http://purl.obolibrary.org/obo/HP_0004921 Abnormal Mg concentration|Abnormality of magnesium homeostasis|Abnormal magnesium metabolism MONDO:0019089 obsolete adult acute respiratory distress syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019089 MONDO:0019088 post-transplant lymphoproliferative disease biolink:Disease mondo ICDO:9971/1|UMLS:C0432487|ICD10:D47.9|SCTID:254290004|NCIT:C4727|MedDRA:10051358|GARD:0009553|Orphanet:70568 Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001) SNOMEDCT:254290004|MEDDRA:10051358|UMLS:C0432487|ORPHA:70568|NCIT:C4727 http://purl.obolibrary.org/obo/MONDO_0019088 PTLD|post-transplant lymphoproliferative disorder ordo_disease|gard_rare MONDO:0020063 malformation syndrome with hamartosis biolink:Disease mondo Orphanet:98196|UMLS:CN206967 UMLS:CN206967|ORPHA:98196 http://purl.obolibrary.org/obo/MONDO_0020063 Dysmorphologic diseases with phakomatosis ordo_group_of_disorders MONDO:0019074 bilateral acute depigmentation of the iris biolink:Disease mondo Orphanet:69736|SCTID:720460007 Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure. ORPHA:69736|SNOMEDCT:720460007 http://purl.obolibrary.org/obo/MONDO_0019074 BADI ordo_disease MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome biolink:Disease mondo MESH:C536825|OMIM:137940|UMLS:CN205563|GARD:0002492 http://identifiers.org/omim/137940|MESH:C536825|UMLS:CN205563 http://purl.obolibrary.org/obo/MONDO_0019073 glomerulonephritis with sparse hair and telangiectases|hypotrichosis-lymphedema-telangiectasia-renal defect syndrome|telangiectatic membranoproliferative glomerulonephritis|HLTRS|hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; HLTRS|hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome MONDO:0020062 chromosome X structural anomaly biolink:Disease mondo Orphanet:98159|ICD10:Q99.8 ORPHA:98159 http://purl.obolibrary.org/obo/MONDO_0020062 ordo_group_of_disorders MONDO:0020061 chromosome Y structural anomaly biolink:Disease mondo ICD10:Q98.6|Orphanet:98158 ORPHA:98158 http://purl.obolibrary.org/obo/MONDO_0020061 ordo_group_of_disorders MONDO:0019076 circumscribed palmoplantar hypokeratosis biolink:Disease mondo Orphanet:69744 Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin. ORPHA:69744 http://purl.obolibrary.org/obo/MONDO_0019076 ordo_disease MONDO:0020060 gonosome structural anomaly biolink:Disease mondo Orphanet:98157 ORPHA:98157 http://purl.obolibrary.org/obo/MONDO_0020060 Sex-chromosome structural anomaly ordo_group_of_disorders MONDO:0019075 Bosley-Salih-Alorainy syndrome biolink:Disease mondo Orphanet:69737|ICD10:Q87.8 Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. ORPHA:69737 http://purl.obolibrary.org/obo/MONDO_0019075 ordo_malformation_syndrome MONDO:0019070 obsolete liposarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019070 MONDO:0019072 intrahepatic cholestasis biolink:Disease mondo DOID:1852|SCTID:235888006|Orphanet:69665|UMLS:C0008372|ORDO:69665|ICD10:O26.6|GARD:9804|EFO:0009048|MESH:D002780|DOID:0070227|GARD:0009804 Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. MESH:D002780|ORPHA:69665|UMLS:C0008372|MESH:C535932|SNOMEDCT:235888006|NCIT:C84400|DOID:1852|DOID:0070227 http://purl.obolibrary.org/obo/MONDO_0019072 familial recurrent intrahepatic cholestasis of pregnancy|Gravidic intrahepatic cholestasis|recurrent intrahepatic cholestasis of pregnancy|pregnancy-related cholestasis|RICP|intrahepatic cholestasis of pregnancy|familial intrahepatic cholestasis of pregnancy|ICP|pregnancy related cholestasis|cholestasis, intrahepatic of pregnancy|gravidic intrahepatic cholestasis ordo_disease MONDO:0019071 pure hair and nail ectodermal dysplasia biolink:Disease mondo Orphanet:69084 Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. ORPHA:69084 http://purl.obolibrary.org/obo/MONDO_0019071 hair-nail ectodermal dysplasia|HNED|PHNED ordo_malformation_syndrome NCBITaxon:693660 unclassified Primate lentivirus group organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_693660 RO:0002595 causal relation between material entity and a process biolink:OntologyClass mondo A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. http://purl.obolibrary.org/obo/RO_0002595 MONDO:0020069 chronic encephalitis biolink:Disease mondo Orphanet:98255|UMLS:C0006109 Chronic form of encephalitis. UMLS:C0006109|ORPHA:98255 http://purl.obolibrary.org/obo/MONDO_0020069 encephalitis, chronic ordo_group_of_disorders GO:0005594 collagen type IX trimer biolink:OntologyClass mondo A collagen heterotrimer containing type IX alpha chains in alpha1(IX)alpha2(IX)alpha3(IX) trimers; type IX collagen triple helices associate to form a structure that links glycosaminoglycans to type II collagen fibrils. http://purl.obolibrary.org/obo/GO_0005594 RO:0002596 capable of regulating biolink:OntologyClass mondo Holds between c and p if and only if c is capable of some activity a, and a regulates p. http://purl.obolibrary.org/obo/RO_0002596 MONDO:0020068 postinfectious encephalitis biolink:Disease mondo UMLS:C0393459|SCTID:192727001|ICD9:323.6|Orphanet:98253|MedDRA:10057235 SNOMEDCT:192727001|MEDDRA:10057235|UMLS:C0393459|ORPHA:98253 http://purl.obolibrary.org/obo/MONDO_0020068 ordo_group_of_disorders RO:0002597 capable of negatively regulating biolink:OntologyClass mondo Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p. http://purl.obolibrary.org/obo/RO_0002597 MONDO:0007089 Alzheimer disease 2 biolink:Disease mondo ICD10:G30|UMLS:C1863051|OMIM:104310|MESH:C536595|DOID:0110035|GARD:0009467 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. MESH:C536595|DOID:0110035|http://identifiers.org/omim/104310|UMLS:C1863051 http://purl.obolibrary.org/obo/MONDO_0007089 Alzheimer's disease type 2|Alzheimer disease type 2|Alzheimer disease 2, late-onset|Alzheimer disease associated with APOE E4|Alzheimer disease-2|late onset Alzheimer disease|Alzheimer disease associated with Apoe4|late onset familial Alzheimer disease|AD2|Alzheimer disease 2, late onset|Alzheimer disease associated with APOE4|LOFAD|Alzheimer disease 2|Alzheimer's disease 2|Alzheimer disease 2; AD2 MONDO:0020067 infectious encephalitis biolink:Disease mondo NCIT:C79550|ICD9:049.8|ICD9:323.4|MESH:D000069544|SCTID:312215006 An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi. SNOMEDCT:312215006|NCIT:C79550|MESH:D000069544 http://purl.obolibrary.org/obo/MONDO_0020067 encephalitis infection ordo_group_of_disorders GO:0005592 collagen type XI trimer biolink:OntologyClass mondo A collagen heterotrimer containing type XI alpha chains in alpha1(XI)alpha2(XI)alpha3(XI) trimers; type XI collagen triple helices associate to form fibrils. http://purl.obolibrary.org/obo/GO_0005592 MONDO:0020066 Ehlers-Danlos syndrome biolink:Disease mondo Orphanet:98249|SCTID:398114001|UMLS:C0013720|DOID:13359|GARD:0006322|ICD10:Q79.6|COHD:79145|NCIT:C34568|MedDRA:10014316|MESH:D004535|ICD9:756.83|OMIMPS:130000 The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. DOID:13359|MEDDRA:10014316|MESH:D004535|SNOMEDCT:398114001|ORPHA:98249|NCIT:C34568|UMLS:C0013720 http://purl.obolibrary.org/obo/MONDO_0020066 Ehler Danlos Syndrome|Ehlers-Danlos syndromes|elastic skin|danlos ehlers syndrome|Disease, Ehlers Danlos|skin elastic|Disease, Ehlers-Danlos|Danlos disease|Meekeren-Ehlers-Danlos syndrome|Ehlers Danlos Disease|Dystrophia mesodermalis congenita|Ehlers Danlos syndrome|Fibrodysplasia elastica generalisata|ED syndrome|Ehlers-Danlos Disease|Syndrome, Ehlers-Danlos|Danlos Disease, Ehlers|Hereditary collagen dysplasia|EDS gard_rare|ordo_group_of_disorders GO:0005593 FACIT collagen trimer biolink:OntologyClass mondo A collagen trimer that associates with collagen fibrils and consists of collagen monomers that contain two or more relatively short triple-helical domains connected by non-triple-helical sequences. http://purl.obolibrary.org/obo/GO_0005593 MONDO:0007087 alternating hemiplegia of childhood 1 biolink:Disease mondo UMLS:C3549447|OMIM:104290 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene. http://identifiers.org/omim/104290|UMLS:C3549447 http://purl.obolibrary.org/obo/MONDO_0007087 alternating hemiplegia of childhood 1; AHC1|AHC1|alternating hemiplegia of childhood type 1|alternating hemiplegia of childhood 1|ATP1A2 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A2 MONDO:0020065 combined dystonia biolink:Disease mondo Orphanet:98203|UMLS:CN206969|ICD10:G24.1 A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism). UMLS:CN206969|ORPHA:98203 http://purl.obolibrary.org/obo/MONDO_0020065 dystonia-plus syndrome ordo_group_of_disorders MONDO:0007088 Alzheimer disease type 1 biolink:Disease mondo GARD:0009465|DOID:0080348|UMLS:C2931257|OMIM:104300 DOID:0080348|http://identifiers.org/omim/104300|UMLS:C2931257 http://purl.obolibrary.org/obo/MONDO_0007088 Alzheimer disease, early-onset, with cerebral amyloid angiopathy|AD1|Alzheimer disease, protection against|early-onset familial form of Alzheimer disease|Alzheimer disease 1|presenile and senile dementia|Alzheimer disease; AD|Alzheimer disease, familial, 1 gard_rare MONDO:0020064 pulmonary valve agenesis biolink:Disease mondo GARD:0004597|Orphanet:982|ICD10:Q22.2|SCTID:6996004 Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424 ORPHA:982|SNOMEDCT:6996004 http://purl.obolibrary.org/obo/MONDO_0020064 congenital absence of the pulmonary valve|absent pulmonary valve syndrome|PVA|pulmonary valves agenesis ordo_group_of_disorders|gard_rare MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome biolink:Disease mondo GARD:0000607|Orphanet:1008|UMLS:C1863090|OMIM:104130|MESH:C537057|SCTID:720980004|ICD10:Q87.8 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. MESH:C537057|ORPHA:1008|SNOMEDCT:720980004|http://identifiers.org/omim/104130|UMLS:C1863090 http://purl.obolibrary.org/obo/MONDO_0007085 alopecia, epilepsy, pyorrhea, mental subnormality|congenital universal alopecia, epilepsy, mental subnormality and pyorrhea|alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality|Shokeir syndrome ordo_disease MONDO:0007086 autosomal dominant Alport syndrome biolink:Disease mondo SCTID:717766000|ICD10:Q87.8|DOID:0110032|GARD:0000624|Orphanet:88918|OMIM:104200 Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. ORPHA:88918|UMLS:C1567743|DOID:0110032|MESH:C536586|SNOMEDCT:717766000|http://identifiers.org/omim/104200|UMLS:C2931253 http://purl.obolibrary.org/obo/MONDO_0007086 Alport syndrome dominant type|Alport syndrome, autosomal dominant|renal failure and sensorineural hearing loss ordo_etiological_subtype|gard_rare MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia biolink:Disease mondo OMIM:104100|ICD10:Q82.8|GARD:0000604|SCTID:719518004|Orphanet:1010 Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. ORPHA:1010|SNOMEDCT:719518004|http://identifiers.org/omim/104100 http://purl.obolibrary.org/obo/MONDO_0007083 palmoplantar keratoderma and congenital alopecia, Stevanovic type|keratoderma-hypotrichosis-leukonychia totalis syndrome|alopecia congenita with hyperkeratosis of the palms and soles|PPKCA1|palmoplantar keratoderma and congenital alopecia 1; PPKCA1|palmoplantar keratoderma and congenital alopecia 1|palmoplantar keratoderma and congenital alopecia type 1|PPK-CA, Stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|Ppkca, Stevanovic type gard_rare|ordo_disease MONDO:0007084 familial focal alopecia biolink:Disease mondo MESH:C566301|UMLS:C1863092|OMIM:104110 MESH:C566301|http://identifiers.org/omim/104110|UMLS:C1863092 http://purl.obolibrary.org/obo/MONDO_0007084 alopecia, familial focal|alopecia, familial focal; ALPF|ALPF MONDO:0007081 obsolete allergic bronchopulmonary aspergillosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007081 MONDO:0007082 alopecia areata 1 biolink:Disease mondo UMLS:C1863094|OMIM:104000 http://identifiers.org/omim/104000|UMLS:C1863094 http://purl.obolibrary.org/obo/MONDO_0007082 alopecia areata 1|alopecia universalis|alopecia areata 1; AA1|AA1 MONDO:0007080 glucocorticoid-remediable aldosteronism biolink:Disease mondo Orphanet:403|MESH:C563177|ICD10:E26.0|UMLS:C3838731|DOID:14080|GARD:0002790|OMIM:103900|ICD9:255.11|ICD10:E26.02|UMLS:C1260386 Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. DOID:14080|ORPHA:403|MESH:C563177|UMLS:C3838731|NCIT:C123248|http://identifiers.org/omim/103900|UMLS:C1260386 http://purl.obolibrary.org/obo/MONDO_0007080 HALD1|glucocorticoid-remediable aldosteronism|dexamethasone sensitive hypertension|glucocorticoid-remediable aldosteronism; GRA|FH1|hyperaldosteronism, familial, type I; HALD1|dexamethasone-sensitive hypertension|FH-I|GRA|glucocorticoid sensitive hypertension|aldosteronism, sensitive to dexamethasone|familial hyperaldosteronism type I|hyperaldosteronism, familial, type 1|glucocorticoid-suppressible hyperaldosteronism|glucocorticoid-sensitive hypertension|ACTH-dependent hyperaldosteronism syndrome|familial hyperaldosteronism type 1|FH 1|hyperaldosteronism, familial type 1 gard_rare|ordo_disease MONDO:0019078 Ritscher-Schinzel syndrome biolink:Disease mondo UMLS:C0796137|OMIMPS:220210|MESH:C535313|Orphanet:7|ICD10:Q87.8|DOID:0060565|SCTID:718556007|GARD:0005666 Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. ORPHA:7|MESH:C535313|SNOMEDCT:718556007|DOID:0060565|UMLS:C0796137 http://purl.obolibrary.org/obo/MONDO_0019078 CCC dysplasia|Ritscher-Schinzel syndrome|Dandy-Walker-like malformation with ASD|3C syndrome|Dandy-Walker-like malformation with atrioventricular septal defect|Dandy-Walker like malformation with atrioventricular septal defect|Ritscher Schinzel syndrome|Ritscher-Schinzel cranio-cerebello-cardiac syndrome|Craniocerebellocardiac dysplasia|cranio-cerebello-cardiac dysplasia|craniocerebellocardiac dysplasia gard_rare|ordo_malformation_syndrome MONDO:0019077 warty dyskeratoma biolink:Disease mondo SCTID:254676008|NCIT:C4087|Orphanet:69745|MedDRA:10068856|UMLS:C0334063 A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug. ORPHA:69745|SNOMEDCT:254676008|NCIT:C4087|UMLS:C0334063|MEDDRA:10068856 http://purl.obolibrary.org/obo/MONDO_0019077 follicular dyskeratoma|isolated follicular keratosis ordo_disease MONDO:0019079 proximal spinal muscular atrophy biolink:Disease mondo EFO:0008929|Orphanet:70|ICD10:G12.0|UMLS:C4024957|GARD:0004531|UMLS:CN205570|ICD10:G12.1 Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. UMLS:CN205570|ORPHA:70|UMLS:C4024957 http://purl.obolibrary.org/obo/MONDO_0019079 SMA gard_rare|ordo_disease MONDO:0019063 vascular anomaly biolink:Disease mondo Orphanet:68419 ORPHA:68419 http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly or angioma ordo_group_of_disorders MONDO:0020052 partial autosomal trisomy/tetrasomy biolink:Disease mondo Orphanet:98132 ORPHA:98132 http://purl.obolibrary.org/obo/MONDO_0020052 ordo_group_of_disorders MONDO:0019062 obsolete rare infectious disease biolink:Disease mondo Orphanet:68416|UMLS:CN205543 Rare infectious disease. ORPHA:68416|UMLS:CN205543 http://purl.obolibrary.org/obo/MONDO_0019062 rare infectious disease ordo_group_of_disorders|obsoletion_candidate MONDO:0020051 total autosomal trisomy biolink:Disease mondo Orphanet:98131 ORPHA:98131 http://purl.obolibrary.org/obo/MONDO_0020051 ordo_group_of_disorders MONDO:0020050 autosomal trisomy biolink:Disease mondo SCTID:429442006|UMLS:C1996945|Orphanet:98130|NCIT:C3421|GARD:0006065|ICD9:758.5 A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. SNOMEDCT:429442006|NCIT:C3421|UMLS:C1996945|ORPHA:98130 http://purl.obolibrary.org/obo/MONDO_0020050 chromosomal triplication|trisomy|autosomal duplication ordo_group_of_disorders MONDO:0019065 amyloidosis (disease) biolink:Disease mondo NCIT:C2868|EFO:1001875|DOID:9120|MESH:D000686|ICD9:277.30|MedDRA:10002022|Orphanet:69|SCTID:17602002|ICD10:E85.8|ONCOTREE:MIDDA|ICD10:E85.9|ICD10:E85.4|COHD:432595|ICD10:E85.3|ICD9:277.3|ICD10:E85|ICD10:E85.2|HP:0011034|ICD10:E85.1|UMLS:C0002726|ICD10:E85.0 A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. UMLS:C0002726|SNOMEDCT:17602002|NCIT:C2868|MESH:D000686|MEDDRA:10002022|DOID:9120|ORPHA:69 http://purl.obolibrary.org/obo/MONDO_0019065 amyloidoses|amyloidosis|amyloidosis (disease)|amyloid disease|amyloid ordo_group_of_disorders MONDO:0019064 hereditary spastic paraplegia biolink:Disease mondo MedDRA:10019903|GARD:0006637|DOID:2476|ICD9:334.1|COHD:192901|SCTID:39912006|OMIMPS:303350|Orphanet:685|MESH:D015419|NCIT:C140267|ICD10:G11.4 Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. MESH:D015419|MEDDRA:10019903|SNOMEDCT:39912006|ORPHA:685|UMLS:C0037773|DOID:2476|NCIT:C140267 http://purl.obolibrary.org/obo/MONDO_0019064 SPG|spastic paraplegia|hereditary spastic paraparesis|familial spastic paraparesis|FSP|HSP|Strumpell-Lorrain disease|Strümpell-Lorrain disease|familial spastic paraplegia|French settlement disease gard_rare|ordo_group_of_disorders GO:0030545 receptor regulator activity biolink:OntologyClass mondo The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. http://purl.obolibrary.org/obo/GO_0030545 GO:0030546 signaling receptor activator activity biolink:OntologyClass mondo The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. http://purl.obolibrary.org/obo/GO_0030546 receptor activator activity MONDO:0019061 rare parathyroid disease and phosphocalcic metabolism anomaly biolink:Disease mondo Orphanet:68415|UMLS:CN205542 ORPHA:68415|UMLS:CN205542 http://purl.obolibrary.org/obo/MONDO_0019061 ordo_group_of_disorders|obsoletion_candidate MONDO:0019060 bone neoplasm biolink:Disease mondo GARD:0013223|ONCOTREE:BONE|NCIT:C9343|Orphanet:68411 A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. NCIT:C9343|ORPHA:68411 http://purl.obolibrary.org/obo/MONDO_0019060 neoplasm of bone|bone tumor|neoplasm of the bone|bone neoplasm|neoplasm of bone tissue|bone tissue tumor|rare bone tumor|bone neoplasms|osseous neoplasm|bone tumors|primary malignant neoplasm of bone|tumor of bone|tumor of bone tissue|tumor of the bone|primary bone cancer|bone tissue neoplasm|osseous tumor ordo_group_of_disorders HP:0004905 Low levels of vitamin A biolink:PhenotypicFeature mondo UMLS:C0042842|SNOMEDCT_US:72000004|MSH:D014802 A reduced concentration of vitamin A. http://purl.obolibrary.org/obo/HP_0004905 Vitamin A deficiency MONDO:0020059 gonosome number anomaly biolink:Disease mondo Orphanet:98156 ORPHA:98156 http://purl.obolibrary.org/obo/MONDO_0020059 Sex-chromosome number anomaly ordo_group_of_disorders RO:0002584 has part structure that is capable of biolink:OntologyClass mondo s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p http://purl.obolibrary.org/obo/RO_0002584 MONDO:0020058 gonosome anomaly biolink:Disease mondo COHD:441398|Orphanet:98155|SCTID:95462004|ICD9:758.8|ICD9:758.81 ORPHA:98155|SNOMEDCT:95462004 http://purl.obolibrary.org/obo/MONDO_0020058 Sex-chromosome anomaly ordo_group_of_disorders MONDO:0020057 uniparental disomy of paternal origin biolink:Disease mondo SCTID:726402006|Orphanet:98154|ICD10:Q99.8 SNOMEDCT:726402006|ORPHA:98154 http://purl.obolibrary.org/obo/MONDO_0020057 ordo_group_of_disorders MONDO:0044001 hearing loss, mixed conductive-sensorineural biolink:Disease mondo NCIT:C26974|MESH:D046089|SCTID:77507001|UMLS:C0155552|EFO:1001803 Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear. UMLS:C0155552|MESH:D046089|SNOMEDCT:77507001|NCIT:C26974 http://purl.obolibrary.org/obo/MONDO_0044001 hearing loss, mixed conductive sensorineural|Losses, mixed hearing|hearing loss, mixed|loss, mixed hearing|mixed deafness|mixed hearing loss|mixed conductive and sensorineural hearing loss|mixed type deafness|mixed conductive and sensorineural deafness MONDO:0020056 uniparental disomy of maternal origin biolink:Disease mondo SCTID:726401004|Orphanet:98153|ICD10:Q99.8 SNOMEDCT:726401004|ORPHA:98153 http://purl.obolibrary.org/obo/MONDO_0020056 ordo_group_of_disorders PATO:0000117 size biolink:OntologyClass mondo A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. http://purl.obolibrary.org/obo/PATO_0000117 MONDO:0020055 autosomal uniparental disomy biolink:Disease mondo ICD10:Q99.8|Orphanet:98152|UMLS:CN229262 UMLS:CN229262|ORPHA:98152 http://purl.obolibrary.org/obo/MONDO_0020055 ordo_group_of_disorders MONDO:0007098 ACys amyloidosis biolink:Disease mondo OMIM:105150|ICD10:E85.4+|DOID:0070027|ICD9:437.8|ICD10:I68.0*|SCTID:703220002|ICD9:277.39|Orphanet:100008 Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages. http://identifiers.org/omim/105150|SNOMEDCT:703220002|DOID:0070027|ORPHA:100008 http://purl.obolibrary.org/obo/MONDO_0007098 amyloidosis VI|cystatin amyloidosis|CST3-related amyloidosis|amyloidosis 6|HCHWA|HCHWA, Icelandic type|CST3-related cerebral amyloid angiopathy|cerebral hemorrhage, hereditary, with amyloidosis|amyloidosis, Cerebroarterial, Icelandic type|cerebral amyloid angiopathy, CST3-related|hereditary cystatin C amyloid angiopathy|hereditary cerebral hemorrhage with amyloidosis, Icelandic type|hereditary cerebral hemorrhage with amyloidosis ordo_clinical_subtype MONDO:0020054 partial autosomal monosomy biolink:Disease mondo Orphanet:98142|ICD10:Q93.5|ICD10:Q93.4|ICD10:Q93.3 ORPHA:98142 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal deletion ordo_group_of_disorders MONDO:0007099 familial visceral amyloidosis biolink:Disease mondo Orphanet:85450|DOID:0050636|GARD:0008282|MESH:C538249|ICD10:E85.0|UMLS:C0268389|SCTID:66451004|OMIM:105200|ICD9:277.39 MESH:C538249|ORPHA:85450|DOID:0050636|SNOMEDCT:66451004|http://identifiers.org/omim/105200|UMLS:C0268389 http://purl.obolibrary.org/obo/MONDO_0007099 amyloidosis systemic nonneuropathic|amyloidosis familial renal|amyloidosis, Ostertag type|amyloidosis VIII|familial renal amyloidosis|hereditary amyloidosis with primary renal involement|amyloidosis, systemic Nonneuropathic|hereditary amyloid nephropathy|German type amyloidosis|amyloidosis familial visceral|hereditary renal amyloidosis|amyloidosis, familial renal|amyloidosis 8|amyloidosis, familial visceral|Ostertag type amyloidosis|systemic nonneuropathic amyloidosis|familial amyloid nephropathy gard_rare|ordo_disease CHEBI:43176 hydroxy group biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_43176 hydroxyl|hydroxyl group|-OH|hydroxy|HYDROXY GROUP|hydroxy group MONDO:0020053 total autosomal monosomy biolink:Disease mondo Orphanet:98141|ICD10:Q93.1|ICD10:Q93.0 ORPHA:98141 http://purl.obolibrary.org/obo/MONDO_0020053 ordo_group_of_disorders MONDO:0007096 amenorrhea-galactorrhea syndrome biolink:Disease mondo OMIM:104600|ICD9:253.1|MESH:C537072|UMLS:C0271556|SCTID:64678009 UMLS:C0271556|MESH:C537072|http://identifiers.org/omim/104600|SNOMEDCT:64678009 http://purl.obolibrary.org/obo/MONDO_0007096 amenorrhea-galactorrhea syndrome MONDO:0007097 Finnish type amyloidosis biolink:Disease mondo SCTID:419398009|Orphanet:85448|MESH:C537459|GARD:0002339|ICD9:277.39|OMIM:105120|DOID:0050637|ICD10:E85.1 SNOMEDCT:419398009|MESH:C537459|ORPHA:85448|DOID:0050637|http://identifiers.org/omim/105120 http://purl.obolibrary.org/obo/MONDO_0007097 amyloidosis V|meretoja type amyloidosis|lattice corneal dystrophy type II Finnish|cerebral amyloid angiopathy, Gsn-related|hereditary amyloidosis, Finnish type|amyloidosis, Meretoja type|corneal dystrophy, lattice type 2|hereditary gelsolin amyloidosis|AGel amyloidosis|amyloidosis 5|gelsolin amyloidosis|amyloid cranial neuropathy with lattice corneal dystrophy|familial amyloid polyneuropathy type IV|amyloidosis, Finnish type|lattice corneal dystrophy, type 2|amyloidosis, MERETOJA type|amyloidosis due to mutant gelsolin|familial amyloidosis, Finnish type|meretoja syndrome ordo_disease HGNC:30372 KLHL40 biolink:OntologyClass mondo http://identifiers.org/hgnc/30372 MONDO:0007094 amelogenesis imperfecta type 1A biolink:Disease mondo ICD10:K00.5|DOID:0110054|MESH:C538240|OMIM:104530|GARD:0000645 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene. DOID:0110054|http://identifiers.org/omim/104530|MESH:C538240 http://purl.obolibrary.org/obo/MONDO_0007094 amelogenesis imperfecta hypoplastic type IA|amelogenesis imperfecta type IA|LAMB3 amelogenesis imperfecta|amelogenesis imperfecta, type IA|amelogenesis imperfecta, type 1A|amelogenesis imperfecta, hypoplastic type 1A|amelogenesis imperfecta caused by mutation in LAMB3|amelogenesis imperfecta local hypoplastic|local hypoplastic amelogenesis imperfecta|AI1A|amelogenesis imperfecta, type IA; AI1A gard_rare MONDO:0007095 ameloonychohypohidrotic syndrome biolink:Disease mondo SCTID:715404000|Orphanet:1028|OMIM:104570|ICD10:Q82.4|UMLS:C1863006|MESH:C538245|GARD:0000647 http://identifiers.org/omim/104570|SNOMEDCT:715404000|UMLS:C1863006|MESH:C538245|ORPHA:1028 http://purl.obolibrary.org/obo/MONDO_0007095 amelo-onycho-hypohidrotic syndrome|hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis|ameloonychohypohidrotic syndrome gard_rare|ordo_malformation_syndrome MONDO:0007092 amelogenesis imperfecta type 1B biolink:Disease mondo OMIM:104500|ICD10:K00.5|ICD9:520.5|MESH:C562879|UMLS:C0399368|SCTID:234961008|DOID:0110052 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene. SNOMEDCT:234961008|DOID:0110052|http://identifiers.org/omim/104500|MESH:C562879|UMLS:C0399368 http://purl.obolibrary.org/obo/MONDO_0007092 enam amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in ENAM|amelogenesis imperfecta caused by mutation in enam|amelogenesis imperfecta, type IB|amelogenesis imperfecta, type 1B|amelogenesis imperfecta, hypoplastic local, autosomal dominant|hereditary localized enamel hypoplasia|enamel hypoplasia, hereditary localized|AI1B|amelogenesis imperfecta type IB|autosomal dominant hypoplastic local amelogenesis imperfecta|AIH2|amelogenesis imperfecta, type IB; AI1B|ENAM amelogenesis imperfecta RO:0002576 skeleton of biolink:OntologyClass mondo inverse of has skeleton http://purl.obolibrary.org/obo/RO_0002576 MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism biolink:Disease mondo UMLS:C1863012|OMIM:104510|ICD10:K00.5|MESH:C566293|Orphanet:100034|DOID:0110053 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene. MESH:C566293|DOID:0110053|http://identifiers.org/omim/104510|ORPHA:100034|UMLS:C1863012|UMLS:C0399373 http://purl.obolibrary.org/obo/MONDO_0007093 amelogenesis imperfecta type 4|AIHHT|amelogenesis imperfecta caused by mutation in DLX3|DLX3 amelogenesis imperfecta|amelogenesis imperfecta, type IV; AI4|amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism|amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism|AI4|amelogenesis imperfecta, type 4|amelogenesis imperfecta, type IV ordo_clinical_subtype RO:0002577 system biolink:OntologyClass mondo A material entity consisting of multiple components that are causally integrated. http://purl.obolibrary.org/obo/RO_0002577 RO:0002578 directly regulates biolink:OntologyClass mondo Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2. http://purl.obolibrary.org/obo/RO_0002578 MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism biolink:Disease mondo UMLS:C1863015|OMIM:104350|MESH:C566295 http://identifiers.org/omim/104350|UMLS:C1863015|MESH:C566295 http://purl.obolibrary.org/obo/MONDO_0007090 amastia, bilateral, with ureteral triplication and dysmorphism MONDO:0007091 amelia and terminal transverse hemimelia biolink:Disease mondo OMIM:104400|MESH:C566294|UMLS:C1863014 http://identifiers.org/omim/104400|UMLS:C1863014|MESH:C566294 http://purl.obolibrary.org/obo/MONDO_0007091 amelia and terminal transverse hemimelia MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome biolink:Disease mondo ICD10:N04.0|Orphanet:69061 Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. ORPHA:69061 http://purl.obolibrary.org/obo/MONDO_0019067 ordo_clinical_syndrome MONDO:0019066 syndrome with brachydactyly biolink:Disease mondo UMLS:CN205546|ICD10:Q73.8|Orphanet:69028 Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. ORPHA:69028|UMLS:CN205546 http://purl.obolibrary.org/obo/MONDO_0019066 dysostosis with brachydactyly ordo_group_of_disorders MONDO:0019069 obsolete rhabdoid tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019069 MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization biolink:Disease mondo SCTID:725592009|ICD10:P96.0|Orphanet:69063|UMLS:C4511239 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. ORPHA:69063|SNOMEDCT:725592009|UMLS:C4511239 http://purl.obolibrary.org/obo/MONDO_0019068 neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency|alloimmune neonatal renal disease|neonatal membranous glomerulopathy with maternal NEP deficiency|neonatal glomerulopathy due to Neprilysin alloimmunization|neonatal glomerulopathy due to neprilysin alloimmunization|fetomaternal alloimmunization with antenatal glomerulopathies|FMAIG ordo_disease HGNC:17382 SRGAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17382 MONDO:0022620 CD4 deficiency biolink:Disease mondo GARD:0009523 http://purl.obolibrary.org/obo/MONDO_0022620 gard_rare MONDO:0009649 MYMY1 biolink:Disease mondo ICD9:437.5|SCTID:69116000|OMIM:252350 SNOMEDCT:69116000|http://identifiers.org/omim/252350 http://purl.obolibrary.org/obo/MONDO_0009649 Moyamoya disease|MYMY1|Moyamoya disease 1|spontaneous occlusion of the circle of Willis|Moyamoya disease 1; MYMY1 MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome biolink:Disease mondo MESH:C536988|Orphanet:2400|UMLS:C1854961|OMIM:252320 Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. ORPHA:2400|MESH:C536988|UMLS:C1854961|http://identifiers.org/omim/252320 http://purl.obolibrary.org/obo/MONDO_0009648 motor neuropathy, peripheral, with dysautonomia|Lisker-Garcia-Ramos syndrome ordo_disease MONDO:0022622 CDG syndrome type 4 biolink:Disease mondo GARD:0001174 http://purl.obolibrary.org/obo/MONDO_0022622 gard_rare MONDO:0009647 Morquio syndrome C biolink:Disease mondo OMIM:252300|MESH:C536247 MESH:C536247|http://identifiers.org/omim/252300 http://purl.obolibrary.org/obo/MONDO_0009647 Morquio syndrome C|Morquio syndrome type C|Morquio syndrome, Nonkeratosulfate-Excreting type MONDO:0022623 CDK4 linked melanoma biolink:Disease mondo GARD:0001175 http://purl.obolibrary.org/obo/MONDO_0022623 gard_rare MONDO:0009646 monosomy 7 of bone marrow biolink:Disease mondo OMIM:252270|UMLS:C1854978|MESH:C565370 MESH:C565370|UMLS:C1854978|http://identifiers.org/omim/252270 http://purl.obolibrary.org/obo/MONDO_0009646 myelodysplasia and leukemia syndrome with monosomy 7|chromosome 7Q deletion|monosomy 7 of bone marrow MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia biolink:Disease mondo NCIT:C75480|UMLS:C1563719|OMIM:308700|DOID:0090094|ICD10:E23.0|GARD:0003071 The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. NCIT:C75480|DOID:0090094|UMLS:C1563719|http://identifiers.org/omim/308700 http://purl.obolibrary.org/obo/MONDO_0010635 hypogonadotropic hypogonadism 1 with or without anosmia; HH1|hypogonadotropic hypogonadism and anosmia|anosmic hypogonadism|Kallmann syndrome, X-linked|hypogonadotropic hypogonadism 1 with or without anosmia|dysplasia Olfactogenitalis of De Morsier|Kallmann syndrome, type 1, X-linked|KMS|KAL1|ANOS1 hypogonadotropic hypogonadism|HH1|dysplasia olfactogenitalis of de Morsier|hypogonadotropic hypogonadism caused by mutation in ANOS1|Kallmann syndrome 1 gard_rare RO:0002572 luminal space of biolink:OntologyClass mondo s is luminal space of x iff s is lumen_of x and s is an immaterial entity http://purl.obolibrary.org/obo/RO_0002572 MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder biolink:Disease mondo UMLS:C1854982|OMIM:252250|MESH:C565371 MESH:C565371|UMLS:C1854982|http://identifiers.org/omim/252250 http://purl.obolibrary.org/obo/MONDO_0009645 monocyte chemotactic disorder MONDO:0010634 jaundice, familial obstructive, of infancy biolink:Disease mondo OMIM:308600|UMLS:C1839927|MESH:C564118 UMLS:C1839927|MESH:C564118|http://identifiers.org/omim/308600 http://purl.obolibrary.org/obo/MONDO_0010634 jaundice, familial obstructive, of infancy RO:0002573 has modifier biolink:OntologyClass mondo RO:0002573 A relation that holds between an attribute or a qualifier and another attribute. http://purl.obolibrary.org/obo/RO_0002573 MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked biolink:Disease mondo OMIM:308800|MESH:C536159|UMLS:C3887525 UMLS:C3887525|MESH:C536159|http://identifiers.org/omim/308800 http://purl.obolibrary.org/obo/MONDO_0010637 keratosis follicularis SPINULOSA decalvans, X-linked; KFSDX|keratosis follicularis spinulosa decalvans cum ophiasi|keratosis follicularis spinulosa decalvans|keratosis follicularis spinulosa decalvans, X-linked|Kfsdx|keratosis follicularis Spinulosa decalvans cum Ophiasi|KFSDX MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B biolink:Disease mondo ICD10:E72.1|DOID:0111163|PMID:10053004|UMLS:C1854989|MESH:C565373|OMIM:252160|Orphanet:308393 DOID:0111163|MESH:C565373|UMLS:C1854989|http://identifiers.org/omim/252160|ORPHA:308393 http://purl.obolibrary.org/obo/MONDO_0009644 MOCOD type B|MOCODB|molybdenum cofactor deficiency, complementation group type B|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B|molybdenum cofactor deficiency type B|molybdenum cofactor deficiency, complementation group B|molybdenum cofactor deficiency complementation group B|molybdenum cofactor deficiency, complementation group B; MOCODB ordo_etiological_subtype MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A biolink:Disease mondo DOID:0111164|ICD10:E72.1|OMIM:252150|PMID:9731530|Orphanet:308386|UMLS:C1854988|MESH:C565372 DOID:0111164|MESH:C565372|UMLS:C1854988|ORPHA:308386|http://identifiers.org/omim/252150 http://purl.obolibrary.org/obo/MONDO_0009643 sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|molybdenum cofactor deficiency, complementation group A; MOCODA|molybdenum cofactor deficiency, complementation group type a|MOCOD type A|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A|molybdenum cofactor deficiency type A|molybdenum cofactor deficiency, complementation group A|molybdenum cofactor deficiency complementation group A|MOCODA ordo_etiological_subtype MONDO:0010636 Kallmann syndrome with spastic paraplegia biolink:Disease mondo MESH:C536873|UMLS:C1839911|OMIM:308750 UMLS:C1839911|MESH:C536873|http://identifiers.org/omim/308750 http://purl.obolibrary.org/obo/MONDO_0010636 spastic paraplegia-Kallmann syndrome|Kallmann syndrome with spastic paraplegia MONDO:0009642 orofaciodigital syndrome type II biolink:Disease mondo Orphanet:2751|GARD:0003701|SCTID:1779005|ICD9:759.89|OMIM:252100|ICD10:Q87.0 Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas. SNOMEDCT:1779005|MESH:C538585|ORPHA:2751|UMLS:C0026363|http://identifiers.org/omim/252100|UMLS:C2931889 http://purl.obolibrary.org/obo/MONDO_0009642 OFD2|oral facial digital syndrome 2|Mohr syndrome|orofaciodigital syndrome 2|oral-facial-digital syndrome type 2|oral-Facial-digital syndrome, type 2|MOHR syndrome|OFD syndrome 2|orofaciodigital syndrome II|Ofds 2|orofaciodigital syndrome type 2|oral facial digital syndrome type 2 ordo_malformation_syndrome MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome biolink:Disease mondo OMIM:308850|Orphanet:2375|UMLS:CN201604|SCTID:724178000|ICD10:J38.0 Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely. UMLS:CN201604|SNOMEDCT:724178000|ORPHA:2375|http://identifiers.org/omim/308850 http://purl.obolibrary.org/obo/MONDO_0010639 vocal cord dysfunction, familial|laryngeal abductor paralysis|Plott syndrome ordo_malformation_syndrome MONDO:0009641 mitochondrial complex II deficiency biolink:Disease mondo OMIM:252011|ICD10:G71.3|ICD9:277.6|SCTID:124165006|MESH:C565375|Orphanet:3208|GARD:0005053|DOID:0060537 Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers. MESH:C565375|DOID:0060537|http://identifiers.org/omim/252011|SNOMEDCT:124165006|ORPHA:3208 http://purl.obolibrary.org/obo/MONDO_0009641 isolated mitochondrial respiratory chain complex II deficiency|Complex 2 mitochondrial respiratory chain deficiency|isolated succinate-coenzyme Q reductase deficiency|mitochondrial respiratory chain complex II deficiency|mitochondrial Complex 2 deficiency|succinate CoQ reductase deficiency|succinate dehydrogenase deficiency|mitochondrial complex II deficiency|isolated succinate-ubiquinone reductase deficiency|isolated succinate-CoQ reductase deficiency ordo_disease|gard_rare MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome biolink:Disease mondo MESH:C536158|ICD10:Q87.1|OMIM:308830|UMLS:C1839910|GARD:0003099|Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present. MESH:C536158|UMLS:C1839910|ORPHA:2339|http://identifiers.org/omim/308830 http://purl.obolibrary.org/obo/MONDO_0010638 keratosis follicularis, dwarfism, and cerebral atrophy|dwarfism, cerebral atrophy and generalized keratosis follicularis|keratosis follicularis dwarfism and cerebral atrophy ordo_malformation_syndrome|gard_rare MONDO:0009640 obsolete mitochondrial complex I deficiency, nuclear type biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009640 RO:0002571 lumen of biolink:OntologyClass mondo x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. http://purl.obolibrary.org/obo/RO_0002571 RO:0002569 has branching part biolink:OntologyClass mondo inverse of branching part of http://purl.obolibrary.org/obo/RO_0002569 HGNC:2153 CNGB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2153 HGNC:2151 CNGB1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2151 MONDO:0010640 Leber optic atrophy, susceptibility to biolink:Disease mondo OMIM:308905 http://identifiers.org/omim/308905 http://purl.obolibrary.org/obo/MONDO_0010640 Loas|Leber hereditary optic neuropathy, modifier of|Lhon, modifier of|Leber optic atrophy, susceptibility to predisposition HGNC:2150 CNGA3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2150 MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT biolink:Disease mondo OMIM:308950 http://identifiers.org/omim/308950 http://purl.obolibrary.org/obo/MONDO_0010642 Lesch-Nyhan phenotype with normal HGPRT MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome biolink:Disease mondo GARD:0002432|MESH:C537113|ICD10:Q87.8|OMIM:308940|Orphanet:1018 The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. ORPHA:1018|http://identifiers.org/omim/308940|MESH:C537113 http://purl.obolibrary.org/obo/MONDO_0010641 diffuse leiomyomatosis in Alport syndrome|leiomyomatosis, esophageal and vulval, with nephropathy|Xq22.3 microdeletion syndrome|leiomyomatosis, diffuse, with Alport syndrome|Alport syndrome and diffuse leiomyomatosis|chromosome Xq22.3 centromeric deletion syndrome|Alport syndrome with diffuse leiomyomatosis|DL-ATS|ATS-DL|leiomyomatosis, diffuse, with Alport syndrome; DL-ATS ordo_disease RO:0002566 causally influences biolink:OntologyClass mondo Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b http://purl.obolibrary.org/obo/RO_0002566 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis biolink:Disease mondo UMLS:C1839874|OMIM:308990 UMLS:C1839874|http://identifiers.org/omim/308990 http://purl.obolibrary.org/obo/MONDO_0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis RO:0002567 biomechanically related to biolink:OntologyClass mondo A relation that holds between elements of a musculoskeletal system or its analogs. http://purl.obolibrary.org/obo/RO_0002567 MONDO:0010643 acute leukemia (disease) biolink:Disease mondo ICD10:C95.00|DOID:12603|ICD10:C95.0|OMIM:308960|HP:0002488|ICDO:9801/3|NCIT:C9300|COHD:138708|EFO:1000068|ICD9:208.0|ICD9:208.00|SCTID:91855006|MESH:C564112 A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). DOID:12603|SNOMEDCT:91855006|http://identifiers.org/omim/308960|NCIT:C9300|MESH:C564112 http://purl.obolibrary.org/obo/MONDO_0010643 acute leukemia|stem cell leukaemia|stem cell leukemia|leukemia, acute, X-linked|stem cell leukemia (disease) RO:0002568 has_muscle_antagonist biolink:OntologyClass mondo m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position. http://purl.obolibrary.org/obo/RO_0002568 MONDO:0022613 bruyn scheltens syndrome biolink:Disease mondo GARD:0001034 http://purl.obolibrary.org/obo/MONDO_0022613 gard_rare HP:0100529 Abnormal blood phosphate concentration biolink:PhenotypicFeature mondo UMLS:C4022032 An abnormality of phosphate homeostasis or concentration in the body. http://purl.obolibrary.org/obo/HP_0100529 Abnormality of phosphate homeostasis MONDO:0022615 burn goodship syndrome biolink:Disease mondo GARD:0001041 http://purl.obolibrary.org/obo/MONDO_0022615 gard_rare MONDO:0022618 burning mouth syndrome type 3 biolink:Disease mondo UMLS:C2931487|MESH:C537413|GARD:0008558 MESH:C537413|UMLS:C2931487 http://purl.obolibrary.org/obo/MONDO_0022618 BMS-3|type 3 burning mouth syndrome|Psychiatric disorders coexisting with burning mouth syndrome gard_rare HP:0100526 Neoplasm of the lung biolink:PhenotypicFeature mondo NCIT:C3262|MSH:D008175|SNOMEDCT_US:126713003|UMLS:C0024121 Tumor of the lung. http://purl.obolibrary.org/obo/HP_0100526 Lung cancer|Lung tumor HP:0100533 Inflammatory abnormality of the eye biolink:PhenotypicFeature mondo UMLS:C4020969 Inflammation of the eye, parts of the eye or the periorbital region. http://purl.obolibrary.org/obo/HP_0100533 Ocular inflammation|Inflammatory abnormality of the eye MONDO:0022610 bronchiectasis oligospermia biolink:Disease mondo GARD:0001023 http://purl.obolibrary.org/obo/MONDO_0022610 gard_rare MONDO:0009659 mucopolysaccharidosis type 4A biolink:Disease mondo SCTID:7259005|NCIT:C84901|GARD:0003785|Orphanet:309297|ICD10:E76.2|OMIM:253000 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. SNOMEDCT:7259005|http://identifiers.org/omim/253000|ORPHA:309297|NCIT:C84901 http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis, type IVA|Morquio A disease|mucopolysaccharidosis type IVA|MPSIVA|galactosamine-6-sulfatase deficiency|MPS 4A|Morquio syndrome A|N-acetylgalactosamine-6-sulfate sulfatase deficiency|Morquio disease type A|mucopolysaccharidosis, type 4A|GALNS deficiency|MPS IVA|MPS IV A|MPS4A|mucopolysaccharidosis, type IVA; MPS4A ordo_clinical_subtype MONDO:0022611 Brunoni syndrome biolink:Disease mondo UMLS:C2931486|MESH:C537408 UMLS:C2931486|MESH:C537408 http://purl.obolibrary.org/obo/MONDO_0022611 mesomelia, radial hypoplasia bifid thumb unusual facies|mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia HGNC:30348 POLR3B biolink:OntologyClass mondo http://identifiers.org/hgnc/30348 MONDO:0022612 Brunsting-Perry syndrome biolink:Disease mondo GARD:0010454|EFO:0008611|UMLS:C1304226 UMLS:C1304226 http://purl.obolibrary.org/obo/MONDO_0022612 localized cicatricial pemphigoid|cicatricial pemphigoid of the Brunsting-Perry type|Brunsting Perry syndrome gard_rare MONDO:0009658 Sanfilippo syndrome type D biolink:Disease mondo Orphanet:79272|UMLS:C0086650|NCIT:C84900|SCTID:15892005|GARD:0007074|OMIM:252940|ICD10:E76.2 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays. http://identifiers.org/omim/252940|UMLS:C0086650|SNOMEDCT:15892005|ORPHA:79272|NCIT:C84900 http://purl.obolibrary.org/obo/MONDO_0009658 Sanfilippo syndrome D|mucopolysaccharidosis type 3D|Mucopoly-saccharidosis type 3D|mucopolysaccharidosis, type IIID|mucopolysaccharidosis, type IIID; MPS3D|Sanfilippo D|MPS 3D|MPS IIID|mucopolysaccharidosis type IIID|mucopolysaccharidosis, type 3D|N-acetylglucosamine-6-sulfate sulfatase deficiency|N-acetylglucosamine-6-sulfatase deficiency|MPSIIID|glucosamine N-acetyl-6-sulfatase deficiency|MPS III D|MPS3D|GNS deficiency ordo_etiological_subtype MONDO:0009657 Sanfilippo syndrome type C biolink:Disease mondo Orphanet:79271|UMLS:C0086649|NCIT:C84899|GARD:0007073|SCTID:75238000|OMIM:252930|ICD10:E76.2 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. UMLS:C0086649|SNOMEDCT:75238000|ORPHA:79271|NCIT:C84899|http://identifiers.org/omim/252930 http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C|Sanfilippo syndrome C|Mucopoly-saccharidosis type 3C|mucopolysaccharidosis, type IIIC; MPS3C|mucopolysaccharidosis, type IIIC|Sanfilippo C|MPS IIIC|mucopolysaccharidosis type IIIC|MPS 3C|acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency|mucopolysaccharidosis, type 3C|Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency|MPSIIIC|MPS III C|heparan-alpha-glucosaminide N-acetyltransferase deficiency|HGSNAT deficiency|MPS3C ordo_etiological_subtype MONDO:0010624 obsolete IFAP/BRESHECK syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010624 MONDO:0009656 Sanfilippo syndrome type B biolink:Disease mondo UMLS:C0086648|SCTID:59990008|Orphanet:79270|OMIM:252920|NCIT:C84898|GARD:0007072|ICD10:E76.2 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. UMLS:C0086648|ORPHA:79270|SNOMEDCT:59990008|NCIT:C84898|http://identifiers.org/omim/252920 http://purl.obolibrary.org/obo/MONDO_0009656 Mucopoly-saccharidosis type 3B|MPS3B|Sanfilippo B|Sanfilippo syndrome B|MPS IIIB|mucopolysaccharidosis, type IIIB; MPS3B|mucopolysaccharidosis type IIIB|N-acetyl-alpha-glucosaminidase deficiency|mucopolysaccharidosis, type IIIB|MPS 3B|MPS III B|mucopolysaccharidosis, type 3B|NAGLU deficiency|MPSIIIB|N-Acetyl-Alpha-D-glucosaminidase deficiency|mucopolysaccharidosis type 3B ordo_etiological_subtype MONDO:0010623 ichthyosis and male hypogonadism biolink:Disease mondo UMLS:C1839989|ICD9:759.89|OMIM:308200|GARD:0009612|Orphanet:431|SCTID:2355008 ORPHA:431|UMLS:C1839989|SNOMEDCT:2355008|http://identifiers.org/omim/308200 http://purl.obolibrary.org/obo/MONDO_0010623 Ruds|Ichthyosis-male hypogonadism syndrome|rud syndrome|ichthyosis and male hypogonadism MONDO:0009655 Sanfilippo syndrome type A biolink:Disease mondo OMIM:252900|ICD10:E76.2|UMLS:C0086647|GARD:0007071|NCIT:C84897|Orphanet:79269|SCTID:41572006|GARD:0002649 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. UMLS:C0086647|SNOMEDCT:41572006|ORPHA:79269|NCIT:C84897|http://identifiers.org/omim/252900 http://purl.obolibrary.org/obo/MONDO_0009655 mucopolysaccharidosis type IIIA|sulfamidase deficiency|mucopoly-saccharidosis type 3A|MPSIIIA|Sanfilippo A|MPS IIIA|mucopolysaccharidosis, type IIIA; MPS3A|Sanfilippo syndrome a|mucopolysaccharidosis, type IIIA|MPS III A|MPS3A|mucopolysaccharidosis type 3A|heparan sulfamidase deficiency|MPS 3A|heparan sulfate sulfatase deficiency|mucopolysaccharidosis, type 3A|heparane sulfamidase deficiency ordo_etiological_subtype|gard_rare MONDO:0010626 hyper-IgM syndrome type 1 biolink:Disease mondo SCTID:403835002|UMLS:C0398689|DOID:0060022|DOID:6620|ICD10:D80.5|Wikidata:Q3508611|GARD:0000073|NCIT:C61244|OMIM:308230|Orphanet:101088 Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. DOID:6620|UMLS:C0398689|DOID:0060022|NCIT:C61244|ORPHA:101088|SNOMEDCT:403835002|http://identifiers.org/omim/308230 http://purl.obolibrary.org/obo/MONDO_0010626 immunodeficiency with hyper IgM type 1|HIGM1|hyper-IgM syndrome, X-linked|hyper IgM immunodeficiency, x-linked|IHIS|hyper-IgM immunodeficiency, X-linked|HIGM|immunodeficiency 3|XHIGM|hyper-IgM syndrome type 1|immunodeficiency with hyper-IgM, type 1; HIGM1|CD40 ligand deficiency|immunodeficiency with hyper-IgM, type 1|hyperimmunoglobulin M syndrome|X-linked hyper IgM syndrome|hyper-IgM syndrome due to CD40L deficiency|XHIM|hyper IgM syndrome 1|hyper-IgM syndrome due to CD40 ligand deficiency|hyper-IgM syndrome 1|hyper IgM syndrome|HIGMX-1|hyper-IgM syndrome|X-linked hyper-IgM syndrome ordo_clinical_subtype|gard_rare RO:0002563 interaction relation helper property biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002563 MONDO:0009654 mucopolysaccharidoses, unclassified types biolink:Disease mondo UMLS:C0220752|MESH:C562442|OMIM:252700 UMLS:C0220752|MESH:C562442|http://identifiers.org/omim/252700 http://purl.obolibrary.org/obo/MONDO_0009654 mucopolysaccharidoses, unclassified types MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein biolink:Disease mondo MESH:C564120|OMIM:308220|UMLS:C1839982 MESH:C564120|UMLS:C1839982|http://identifiers.org/omim/308220 http://purl.obolibrary.org/obo/MONDO_0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein|Gpl115 deficiency RO:0002564 molecular interaction relation helper property biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002564 MONDO:0009653 mucolipidosis type IV biolink:Disease mondo GTR:AN1125033|SCTID:111384001|OMIM:252650|GTR:AN1125032|ICD10:E75.1|UMLS:C0238286|GTR:AN1124590|Orphanet:578|NCIT:C84896|GTR:AN1148743|GARD:0000094|UMLS:CN716584 Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. ORPHA:578|UMLS:CN716584|NCIT:C84896|SNOMEDCT:111384001|http://identifiers.org/omim/252650|UMLS:C0238286 http://purl.obolibrary.org/obo/MONDO_0009653 mucolipidosis IV|mucolipidosis type 4|sialolipidosis|ML4|MLIV|Berman syndrome|mucolipidosis type IV|mucolipidosis 4|mucolipidosis IV; ML4|ML 4|ML IV|ganglioside neuraminidase deficiency|ganglioside sialidase deficiency ordo_disease|gard_rare MONDO:0010628 immunoglobulin M, level of biolink:Disease mondo OMIM:308250 http://identifiers.org/omim/308250 http://purl.obolibrary.org/obo/MONDO_0010628 immunoglobulin M, level of MONDO:0010627 X-linked lymphoproliferative syndrome biolink:Disease mondo ICD9:238.79|Orphanet:2442|SCTID:77121009|NCIT:C61246|DOID:0060705|MedDRA:10068348|UMLS:C0549463|ICD10:D82.3|GARD:0007906 X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). ORPHA:2442|UMLS:C0549463|NCIT:C61246|SNOMEDCT:77121009|DOID:0060705|MEDDRA:10068348 http://purl.obolibrary.org/obo/MONDO_0010627 X-linked lymphoproliferative syndrome|lymphoproliferative syndrome, X-linked, 1|X-linked lymphoproliferative syndrome 1|Duncan disease|X-linked lymphoproliferative syndrome type 1|XLP1|Purtilo syndrome|SH2D1A-related lymphoproliferative disease, X-linked|X-linked lymphoproliferative disease|XLP|lymphoproliferative syndrome, X-linked, type 1|lymphoproliferative syndrome, X-linked|lymphoproliferative syndrome X-linked 1 prototype_pattern|ordo_disease|gard_rare MONDO:0009652 mucolipidosis type III gamma biolink:Disease mondo Orphanet:423470|MESH:C565367|UMLS:C1854896|NCIT:C129978|OMIM:252605|ICD10:E77.0 Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency. MESH:C565367|NCIT:C129978|ORPHA:423470|UMLS:C1854896|http://identifiers.org/omim/252605 http://purl.obolibrary.org/obo/MONDO_0009652 mucolipidosis 3C|mucolipidosis III gamma|ML 3 gamma|mucolipidosis III, Iranian variant form|mucolipidosis III, variant form|mucolipidosis 3 gamma|ML 3C|ML III gamma|mucolipidosis III, complementation group C|mucolipidosis type 3 gamma ordo_clinical_subtype MONDO:0009651 obsolete pseudo-Hurler polydystrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009651 ordo_clinical_subtype MONDO:0009650 mucolipidosis type II biolink:Disease mondo NCIT:C61270|MESH:C538602|GARD:0006749|SCTID:70199000|Orphanet:576|UMLS:C0020725|ICD10:E77.0|DOID:0080070|OMIM:252500|UMLS:C2673377 Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. SNOMEDCT:70199000|ORPHA:576|NCIT:C61270|UMLS:C2673377|http://identifiers.org/omim/252500|UMLS:C2931894|UMLS:C0020725|DOID:0080070|MESH:C538602 http://purl.obolibrary.org/obo/MONDO_0009650 ML disorder type 2|ML 2 Alpha/Beta|mucolipidosis II|N-acetylglucosamine 1-phosphotransferase deficiency|I cell disease|I-cell disease|mucolipidosis 2|mucolipidosis type II|mucolipidosis II alpha/beta|inclusion cell disease|N-acetylglucosamine 1phosphotransferase deficiency|mucolipidosis 2 alpha/beta|ML 2|Leroy disease|mucolipidosis type II alpha/beta|GNPTA ordo_disease MONDO:0010629 impacted teeth, multiple biolink:Disease mondo OMIM:308280 http://identifiers.org/omim/308280 http://purl.obolibrary.org/obo/MONDO_0010629 impacted teeth, multiple GO:0042537 benzene-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving benzene, C6H6, a volatile, very inflammable liquid, contained in the naphtha produced by the destructive distillation of coal, from which it is separated by fractional distillation, or any of its derivatives. http://purl.obolibrary.org/obo/GO_0042537 benzene-containing compound metabolism|benzene and derivative metabolic process|benzene and derivative metabolism RO:0002559 causally influenced by biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002559 NCBITaxon:29547 Epsilonproteobacteria organism taxon mondo PMID:11837318|GC_ID:11|PMID:16403855 http://purl.obolibrary.org/obo/NCBITaxon_29547 Proteobacteria epsilon subdivision|epsilon proteobacteria|e-proteobacteria|Purple bacteria, epsilon subdivision|epsilon subdivision|epsilon subgroup MONDO:0010631 incontinentia pigmenti biolink:Disease mondo NCIT:C84787|OMIM:308300|MESH:D007184|UMLS:C0021171|GARD:0006778|Orphanet:464|Wikipedia:Incongenita_pigmenti|ICD10:Q82.3|SCTID:367520004|DOID:12305|EFO:1000672 Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). MESH:D007184|DOID:12305|UMLS:C0021171|NCIT:C84787|http://identifiers.org/omim/308300|SNOMEDCT:367520004|ORPHA:464 http://purl.obolibrary.org/obo/MONDO_0010631 incontinentia pigmenti; IP|Incontinentia pigmenti, type II, formerly|Bloch-Siemens syndrome|Incontinentia pigmenti syndrome|IP|Incontinentia pigmenti, type II|Incontinentia pigmenti type 2 (formerly)|Incontinentia pigmenti, familial Male-lethal type|Bloch-Sulzberger syndrome|incontinentia pigmenti|IP2 (formerly) ordo_malformation_syndrome MONDO:0010630 imprinting gene related to retinoblastoma biolink:Disease mondo OMIM:308290 http://identifiers.org/omim/308290 http://purl.obolibrary.org/obo/MONDO_0010630 imprinting gene related to retinoblastoma MONDO:0010633 iris hypoplasia with glaucoma biolink:Disease mondo OMIM:308500|UMLS:C1839928|GARD:0009171|MESH:C535538 UMLS:C1839928|MESH:C535538|http://identifiers.org/omim/308500 http://purl.obolibrary.org/obo/MONDO_0010633 iris hypoplasia and glaucoma|iris hypoplasia with glaucoma; IHG|IHG|iris hypoplasia with glaucoma gard_rare MONDO:0010632 developmental and epileptic encephalopathy, 1 biolink:Disease mondo UMLS:C3463992|OMIM:308350 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene. UMLS:C3463992|http://identifiers.org/omim/308350 http://purl.obolibrary.org/obo/MONDO_0010632 epileptic encephalopathy, early infantile, 1; EIEE1|early infantile epileptic encephalopathy caused by mutation in arx|early infantile epileptic encephalopathy caused by mutation in ARX|XMESID|infantile epileptic-dyskinetic encephalopathy|EIEE1|infantile spasm syndrome, X-linked 1|ARX early infantile epileptic encephalopathy|arx early infantile epileptic encephalopathy|Ohtahara syndrome, X-linked|West syndrome, X-linked|epileptic encephalopathy, early infantile, type 1|DEE1|epileptic encephalopathy, early infantile, 1 MONDO:0022602 brachydactyly small stature face anomalies biolink:Disease mondo GARD:0000974 http://purl.obolibrary.org/obo/MONDO_0022602 gard_rare MONDO:0022603 brachydactyly tibial hypoplasia biolink:Disease mondo GARD:0000977 http://purl.obolibrary.org/obo/MONDO_0022603 gard_rare MONDO:0022605 brachymetapody anodontia hypotrichosis albinoidism biolink:Disease mondo GARD:0000992 http://purl.obolibrary.org/obo/MONDO_0022605 gard_rare MONDO:0022606 branchial arch disease biolink:Disease mondo GARD:0001001 A disease that involves the pharyngeal system development. http://purl.obolibrary.org/obo/MONDO_0022606 pharyngeal system development disease|disorder of pharyngeal system development|disease of pharyngeal system development|disorder of pharyngeal system development gard_rare HGNC:17397 BANF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17397 MONDO:0022607 extraovarian Brenner tumor of the vagina biolink:Disease mondo GARD:0010006 A Brenner tumor that involves the vagina. http://purl.obolibrary.org/obo/MONDO_0022607 vagina Brenner tumor|extraovarian Brenner tumor of the vagina|Brenner tumor of the vagina gard_rare MONDO:0022608 brittle bone syndrome lethal type biolink:Disease mondo GARD:0001018 http://purl.obolibrary.org/obo/MONDO_0022608 gard_rare MONDO:0022609 bronchial adenomas/carcinoids childhood biolink:Disease mondo UMLS:C4013426|GARD:0009313 UMLS:C4013426 http://purl.obolibrary.org/obo/MONDO_0022609 bronchial carcinoids gard_rare HP:0100545 Arterial stenosis biolink:PhenotypicFeature mondo UMLS:C0038449|SNOMEDCT_US:68109007 Narrowing or constriction of the inner surface (lumen) of an artery. http://purl.obolibrary.org/obo/HP_0100545 Narrowing of an artery HP:0100543 Cognitive impairment biolink:PhenotypicFeature mondo SNOMEDCT_US:386806002|MSH:D060825|UMLS:C0683322|UMLS:C0338656 Abnormality in the process of thought including the ability to process information. http://purl.obolibrary.org/obo/HP_0100543 Mental impairment|Cognitive impairment|Cognitive abnormality|Cognitive deficits|Cognitive defects|Intellectual impairment|Abnormality of cognition MONDO:0009629 Desbuquois dysplasia 1 biolink:Disease mondo UMLS:C4012146|OMIM:251450 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene. http://identifiers.org/omim/251450|UMLS:C4012146 http://purl.obolibrary.org/obo/MONDO_0009629 DBQD1|Desbuquois dysplasia 1; DBQD1|Desbuquois dysplasia caused by mutation in CANT1|Desbuquois dysplasia 1|desbuquois syndrome|CANT1 Desbuquois dysplasia|Desbuquois dysplasia type 1|Desbuquois dysplasia, Kim variant|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification MONDO:0009628 microcolon (disease) biolink:Disease mondo ICD9:751.5|NCIT:C98987|OMIM:251400|HP:0004388|MESH:C562563|SCTID:18389004 A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development. SNOMEDCT:18389004|MESH:C562563|NCIT:C98987|http://identifiers.org/omim/251400 http://purl.obolibrary.org/obo/MONDO_0009628 microcolon MONDO:0009627 Galloway-Mowat syndrome biolink:Disease mondo OMIMPS:251300|MESH:C537548|Orphanet:2065|ICD10:Q04.3|NCIT:C132195|UMLS:C0795949|DOID:0060364|SCTID:721297008|GARD:0000065 Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. ORPHA:2065|MESH:C537548|UMLS:C0795949|SNOMEDCT:721297008|NCIT:C132195|DOID:0060364 http://purl.obolibrary.org/obo/MONDO_0009627 nephrosis neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5|microcephaly, hiatal hernia and nephrotic syndrome|nephrosis-neuronal dysmigration syndrome|hiatal hernia-microcephaly-nephrosis, Galloway type|spinocerebellar ataxia, autosomal recessive 5, formerly|Galloway-Mowat syndrome; GAMOS|Galloway syndrome|GAMOS|nephrosis-microcephaly syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|microcephaly nephrosis syndrome|microcephaly-hiatus hernia-nephrotic syndrome|Galloway Mowat syndrome|Galloway-Mowat syndrome gard_rare|prototype_pattern|ordo_malformation_syndrome MONDO:0009626 pseudo-TORCH syndrome biolink:Disease mondo GARD:0012426|GARD:0000815|ICD10:Q87.8|UMLS:C3489725|SCTID:722390006|DOID:0050656|Orphanet:1229|OMIMPS:251290 Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. UMLS:C2931662|http://identifiers.org/omim/251290|ORPHA:1229|DOID:0050656|UMLS:C3489725|SNOMEDCT:722390006 http://purl.obolibrary.org/obo/MONDO_0009626 pseudo-TORCH syndrome 1|bilateral band-like calcification with polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|band-like calcification with simplified gyration and polymicrogyria|pseudo-TORCH syndrome|BLCPMG|pseudo-TORCH syndrome 1; PTORCH1|Baraitser-Brett-Piesowicz syndrome|congenital intrauterine infection-like syndrome|microcephaly - intracranial calcification - intellectual disability|Baraitser Brett Piesowicz syndrome|band-like calcification with simplified gyration and polymicrogyria|microcephaly intracranial calcification|pseudo-TORCH syndrome type 1|Baraitser-Reardon syndrome|band-like calcification with simplified gyration and polymicrogyria; BLCPMG|PTORCH1|BLC-PMG gard_rare|ordo_malformation_syndrome|prototype_pattern MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 biolink:Disease mondo GARD:0008510|UMLS:C1855055|MESH:C537546|OMIM:251280 http://identifiers.org/omim/251280|MESH:C537546|UMLS:C1855055 http://purl.obolibrary.org/obo/MONDO_0009625 MISSBC|microcephaly, seizures, spasticity, and brain calcifications; MISSBC|microcephaly, seizures, spasticity, and brain calcifications|DMJDS1|microcephaly with spastic quadriplegia|recessive microcephaly with spastic quadriplegia gard_rare MONDO:0009624 microcephaly and chorioretinopathy 1 biolink:Disease mondo NCIT:C129306|ICD10:Q87.8|DOID:0080105|Orphanet:2518|OMIM:251270 An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy. http://identifiers.org/omim/251270|ORPHA:2518|DOID:0080105|NCIT:C129306 http://purl.obolibrary.org/obo/MONDO_0009624 Pseudotoxoplasmosis syndrome|microcephaly and chorioretinopathy, autosomal recessive, 1; MCCRP1|microcephaly and chorioretinopathy, autosomal recessive, 1|autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome|microcephaly and chorioretinopathy, autosomal recessive, type 1|microcephaly and chorioretinopathy type 1|autosomal recessive chorioretinopathy-microcephaly syndrome|microcephaly and chorioretinopathy caused by mutation in TUBGCP6|TUBGCP6 microcephaly and chorioretinopathy|MCCRP1 ordo_malformation_syndrome MONDO:0010613 inborn glycerol kinase deficiency biolink:Disease mondo SCTID:124322002|DOID:0060363|OMIM:307030|Orphanet:308993 An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity. DOID:0060363|SNOMEDCT:124322002|UMLS:C0268418|ORPHA:308993|http://identifiers.org/omim/307030 http://purl.obolibrary.org/obo/MONDO_0010613 rare inborn error of glycerol kinase activity|glycerol kinase deficiency; GKD|GK1 deficiency|glycerol kinase deficiency|GKD|inborn error of glycerol kinase activity|inborn glycerol kinase activity disorder|rare inborn error of glycerol kinase activity|hyperglycerolemia|GK deficiency ordo_group_of_disorders RO:0002551 has skeleton biolink:OntologyClass mondo A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. http://purl.obolibrary.org/obo/RO_0002551 has supporting framework|has sekeletal support MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome biolink:Disease mondo Orphanet:1397|ICD10:Q04.3|GARD:0001200|OMIM:307010|UMLS:C1844005|MESH:C564407 This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported. UMLS:C1844005|ORPHA:1397|MESH:C564407|http://identifiers.org/omim/307010 http://purl.obolibrary.org/obo/MONDO_0010612 X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome|hydrocephalus with cerebellar agenesis|cerebellum agenesis hydrocephaly ordo_malformation_syndrome|gard_rare MONDO:0009623 Nijmegen breakage syndrome biolink:Disease mondo UMLS:C0398791|GARD:0003904|MESH:D049932|UMLS:CN860323|OMIM:251260|SCTID:234638009|NCIT:C4692|ICD10:Q87.8|DOID:7400|Orphanet:647|MedDRA:10067857 Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. NCIT:C4692|http://identifiers.org/omim/251260|DOID:7400|UMLS:C2930831|MEDDRA:10067857|MESH:C531759|UMLS:C0398791|ORPHA:647|UMLS:CN860323|SNOMEDCT:234638009|MESH:D049932 http://purl.obolibrary.org/obo/MONDO_0009623 Nonsyndromal microcephaly, autosomal recessive, with normal intelligence|Seemanova syndrome 2|immunodeficiency-microcephaly-chromosomal instability syndrome|Nijmegen breakage syndrome; NBs|Nijmegen breakage syndrome|Seemanova syndrome|AT V1|microcephaly immunodeficiency lymphoreticuloma|Nonsyndromal microcephaly autosomal recessive with normal intelligence|microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies|ataxia-telangiectasia variant V2|ataxia-telangiectasia, variant 1|immunodeficiency, microcephaly, and chromosomal instability|ataxia-telangiectasia variant V1|microcephaly, normal intelligence and immunodeficiency|microcephaly-immunodeficiency-lymphoreticuloma syndrome|NBs|Berlin breakage syndrome|Seemanova syndrome type 2|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies ordo_malformation_syndrome|gard_rare HGNC:29347 KLHL15 biolink:OntologyClass mondo http://identifiers.org/hgnc/29347 MONDO:0010615 isolated growth hormone deficiency type III biolink:Disease mondo SCTID:234533006|DOID:0060875|GARD:0003921|OMIM:307200|MESH:C537149|Orphanet:231692|ICD10:E23.0 http://identifiers.org/omim/307200|ORPHA:231692|MESH:C537149|SNOMEDCT:234533006|DOID:0060875 http://purl.obolibrary.org/obo/MONDO_0010615 hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked|isolated growth hormone deficiency, type III; IGHD3|congenital isolated growth hormone deficiency type III|X-linked hypogammaglobulinemia and isolated growth hormone deficiency|Growth hormone deficiency with hypogammaglobulinemia|X-linked agammaglobulinemia and isolated growth hormone deficiency|congenital IGHD type III|growth hormone deficiency with hypogammaglobulinemia|X-linked IGHD|IGHD III|isolated growth hormone deficiency type 3|IGHD3|X-linked isolated growth hormone deficiency|IGHD 3|Fleisher syndrome|congenital isolated GH deficiency type III|agammaglobulinemia and isolated Growth hormone deficiency, X-linked|isolated growth hormone deficiency, type III|isolated growth hormone deficiency, type 3 gard_rare|ordo_clinical_subtype MONDO:0009622 Jawad syndrome biolink:Disease mondo Orphanet:313795|UMLS:C0796063|OMIM:251255 Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. http://identifiers.org/omim/251255|UMLS:C0796063|ORPHA:313795 http://purl.obolibrary.org/obo/MONDO_0009622 Kelly syndrome|microcephaly with intellectual disability and digital anomalies|JAWAD syndrome; JWDS|Jawad syndrome|microcephaly with mental retardation and digital anomalies|JWDS ordo_malformation_syndrome MONDO:0010614 X-linked congenital generalized hypertrichosis biolink:Disease mondo GARD:0002863|ICD10:Q84.2|MESH:C538388|Orphanet:79495|OMIM:307150 X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. MESH:C538388|ORPHA:79495|UMLS:C2931836|http://identifiers.org/omim/307150 http://purl.obolibrary.org/obo/MONDO_0010614 congenital generalized hypertrichosis, Macias-Flores type|chromosome Xq27.1 Interchromosomal insertion syndrome|hCG|hypertrichosis, congenital generalized|hypertrichosis congenital generalized X-linked|Macias-Flores Garcia-Cruz Rivera syndrome|chromosome Xq27.1 interchromosomal insertion syndrome|Cgh|HTC2|hypertrichosis, congenital generalized; HTC2|Macias Flores-Garcia Cruz-Rivera syndrome ordo_clinical_subtype|gard_rare MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome biolink:Disease mondo OMIM:251250|UMLS:C0796066|MESH:C537325|SCTID:715462003|ICD10:Q87.8|GARD:0003610|Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. UMLS:C0796066|http://identifiers.org/omim/251250|ORPHA:2522|MESH:C537325|SNOMEDCT:715462003 http://purl.obolibrary.org/obo/MONDO_0009621 microcephaly with cervical spine fusion anomalies|microcephaly cervical spine fusion anomalies|microcephaly, mild mental retardation, short stature, and skeletal anomalies|microcephaly, mild intellectual disability, short stature, and skeletal anomalies ordo_malformation_syndrome MONDO:0009620 Say-Barber-Miller syndrome biolink:Disease mondo OMIM:251240|GARD:0000239|Orphanet:3132|ICD10:Q87.8|SCTID:721903007|MESH:C536618 Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. http://identifiers.org/omim/251240|ORPHA:3132|MESH:C536618|UMLS:C2931267|SNOMEDCT:721903007 http://purl.obolibrary.org/obo/MONDO_0009620 microcephaly hypogammaglobulinemia abnormal immunity|microcephaly with chemotactic defect and transient hypogammaglobulinemia|microcephaly-hypogammaglobulinemia-abnormal immunity syndrome|Say Barber Miller syndrome ordo_malformation_syndrome|gard_rare MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome biolink:Disease mondo OMIM:307500|ICD10:Q87.8|Orphanet:2234|MESH:C564406|SCTID:722459008 This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. ORPHA:2234|http://identifiers.org/omim/307500|MESH:C564406|UMLS:C2931285|SNOMEDCT:722459008 http://purl.obolibrary.org/obo/MONDO_0010617 Sohval-Soffer syndrome|hypogonadism, MALE, with intellectual disability and skeletal anomalies|hypogonadism, MALE, with mental retardation and skeletal anomalies ordo_malformation_syndrome MONDO:0010616 obsolete hypogonadism, male biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010616 MONDO:0010619 X-linked dominant hypophosphatemic rickets biolink:Disease mondo OMIM:307800|ICD10:E83.3|NCIT:C123265|DOID:0050445|SCTID:82236004|GARD:0012943|Orphanet:89936|ICD10:E83.31|MESH:D053098 X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. ORPHA:89936|http://identifiers.org/omim/307800|MESH:D053098|DOID:0050445|SNOMEDCT:82236004|NCIT:C123265 http://purl.obolibrary.org/obo/MONDO_0010619 XLH|X-linked hypophosphatemia|XLHR|HPDR|X-linked hereditary hypophosphatemic rickets|hypophophatemic vitamin D-resistant rickets|hypophosphatemic rickets, X-linked dominant|hypophosphatemia, X-linked|hereditary hypophosphatemic rickets, X-linked|hypophosphatemic rickets X-linked dominant|hypophosphatemia, vitamin D-resistant rickets|hypophosphatemic vitamin D-resistant rickets|X-linked hypophosphatemic rickets|hypophosphatemic rickets, X-linked dominant; XLHR|HYP|rickets, vitamin D-resistant|hypophosphatemic rickets, X-linked|hypophophatemia, X-linked|vitamin D-resistant rickets, X-linked ordo_disease MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland biolink:Disease mondo NCIT:C131079|MESH:C563238|OMIM:307700|Orphanet:2239|ICD10:E20.8|UMLS:CN201292 Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). ORPHA:2239|UMLS:CN201292|http://identifiers.org/omim/307700|NCIT:C131079|MESH:C563238 http://purl.obolibrary.org/obo/MONDO_0010618 parathyroid glands, agenesis of|HYPX|hypoparathyroidism, X-linked; HYPX|X-linked hypoparathyroidism|hypoparathyroidism, X-linked ordo_clinical_subtype HGNC:2172 CNTN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2172 MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion biolink:Disease mondo OMIM:307830|UMLS:C1843972|MESH:C564405 MESH:C564405|UMLS:C1843972|http://identifiers.org/omim/307830 http://purl.obolibrary.org/obo/MONDO_0010620 hypouricemia, familial renal, due to tubular hypersecretion HGNC:2171 CNTN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2171 MONDO:0010622 recessive X-linked ichthyosis biolink:Disease mondo SCTID:3944006|UMLS:C0079588|GARD:0007904|MedDRA:10048063|Orphanet:461|NCIT:C84779|DOID:1700|ICD10:Q80.1|OMIM:308100 Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. ORPHA:461|UMLS:C0079588|UMLS:C2717836|SNOMEDCT:3944006|DOID:1700|MESH:D016114|NCIT:C84779|http://identifiers.org/omim/308100|MEDDRA:10048063 http://purl.obolibrary.org/obo/MONDO_0010622 XLI|X-linked placental steryl-sulphatase deficiency|placental steroid sulfatase deficiency|ichthyosis, X-linked|SSDD|X-linked ichthyosis|ichthyosis, X-linked, complicated|X-linked recessive ichthyosis|RXLI|X linked ichthyosis|X-linked ichthyosis with steryl-sulphatase deficiency|ichthyosis, X-linked; XLI|steroid sulfatase deficiency|STS deficiency|ichthyosis (disease), X-linked|steroid sulfatase deficiency disease ordo_disease MONDO:0010621 CHILD syndrome biolink:Disease mondo SCTID:17608003|ICD10:Q87.8|GARD:0006039|ICD9:759.89|MESH:C562515|UMLS:C0265267|Orphanet:139|OMIM:308050 CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. SNOMEDCT:17608003|MESH:C562515|http://identifiers.org/omim/308050|ORPHA:139|UMLS:C0265267 http://purl.obolibrary.org/obo/MONDO_0010621 child syndrome|congenital hemidysplasia with ichthyosiform nevus and limbs defects|ichthyosis, child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform erythroderma and limb defects|congenital hemidysplasia with ichthyosiform nevus and limb defects ordo_disease|gard_rare HGNC:30343 DNAJC13 biolink:OntologyClass mondo http://identifiers.org/hgnc/30343 HP:0100547 Abnormality of forebrain morphology biolink:PhenotypicFeature mondo UMLS:C4020967 An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. http://purl.obolibrary.org/obo/HP_0100547 Abnormal shape of forebrain|Abnormality of the forebrain HGNC:17366 AASS biolink:OntologyClass mondo http://identifiers.org/hgnc/17366 MONDO:0010609 obsolete Hirschsprung disease with type d brachydactyly biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010609 MONDO:0009639 obsolete mitochondrial myopathy with lactic acidosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009639 MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport biolink:Disease mondo UMLS:C1855034|OMIM:251945|MESH:C565376 http://identifiers.org/omim/251945|UMLS:C1855034|MESH:C565376 http://purl.obolibrary.org/obo/MONDO_0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport MONDO:0009637 inborn mitochondrial myopathy biolink:Disease mondo GARD:0011956|MedDRA:10027710|Orphanet:206966|MESH:D017240|UMLS:C0162670|DOID:699|NCIT:C101328|ICD10:G71.3 Myopathy caused by mitochondrial abnormalities. MEDDRA:10027710|UMLS:C0162670|DOID:699|NCIT:C101328|MESH:D017240|ORPHA:206966 http://purl.obolibrary.org/obo/MONDO_0009637 mitochondrial myopathy|mitochondrial cytopathy ordo_group_of_disorders MONDO:0009636 mitochondrial DNA depletion syndrome 3 biolink:Disease mondo UMLS:C3151513|UMLS:C4310935|DOID:0080121|OMIM:251880|Orphanet:279934 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene. http://identifiers.org/omim/251880|DOID:0080121|UMLS:C4310935|UMLS:C3151513|ORPHA:279934 http://purl.obolibrary.org/obo/MONDO_0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type)|mitochondrial DNA depletion syndrome 3 (hepatocerebral type); MTDPS3|DGUOK mitochondrial DNA depletion syndrome|MTDPS3|mitochondrial DNA depletion syndrome type 3|mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency|mitochondrial DNA depletion syndrome caused by mutation in DGUOK ordo_disease MONDO:0010602 hemophilia A biolink:Disease mondo UMLS:CN239112|MedDRA:10016080|OMIM:306700|OMIM:134500|ICD10:D66|GARD:0006591|ICD9:286.0|NCIT:C27146|Orphanet:98878|EFO:0007267|MESH:D006467|SCTID:234440005|DOID:12134|UMLS:C0019069 Hemophilia A is the most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. UMLS:CN239112|http://identifiers.org/omim/306700|MEDDRA:10016080|ORPHA:98878|UMLS:C0019069|NCIT:C27146|DOID:12134|MESH:D006467|http://identifiers.org/omim/134500|SNOMEDCT:234440005 http://purl.obolibrary.org/obo/MONDO_0010602 hem A|hereditary Factor VIII deficiency disease|classic hemophilia|hemophilia, classic|factor VIII deficiency|hemophilia A; HEMA|hemophilia A, congenital|Subhemophilia|congenital factor VIII disorder|hemophilia A|classical hemophilia|HEMA|hereditary Factor VIII deficiency|autosomal hemophilia a|hemophilia type a|hemophilia type A|factor 8 deficiency|Haemophilia A ordo_disease MONDO:0009635 microvillus inclusion disease biolink:Disease mondo ICD10:P78.3|GARD:0007039|Orphanet:2290|DOID:0060775|ICD9:579.8|OMIM:251850|MedDRA:10068494|SCTID:235729009|UMLS:C0341306 Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium. ORPHA:2290|http://identifiers.org/omim/251850|SNOMEDCT:235729009|UMLS:C0341306|DOID:0060775|MEDDRA:10068494 http://purl.obolibrary.org/obo/MONDO_0009635 MVID|microvillous inclusion disease|diarrhea 2, with microvillus atrophy|microvillus inclusion disease|Davidson's disease|congenital microvillus atrophy|familial enteropathy, microvillus|Davidson disease|congenital familial protracted diarrhea with enterocyte Brush-border abnormalities|MYO5B secretory diarrhea|microvillus atrophy, congenital|diarrhea 2, with microvillus atrophy; DIAR2|diarrhea 2 with microvillus atrophy|intractable diarrhea of infancy|congenital microvillous atrophy|MVD|DIAR2|secretory diarrhea caused by mutation in MYO5B|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|congenital familial protracted diarrhea ordo_disease GO:0042552 myelination biolink:OntologyClass mondo The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. http://purl.obolibrary.org/obo/GO_0042552 myelinogenesis HGNC:29357 ASXL3 biolink:OntologyClass mondo http://identifiers.org/hgnc/29357 MONDO:0010601 obsolete gynecomastia, familial biolink:Disease mondo OMIM:306500|MESH:C564416|UMLS:C1844375 An instance of gynecomastia that is caused by an inherited modification of the individual's genome. UMLS:C1844375|http://identifiers.org/omim/306500|MESH:C564416 http://purl.obolibrary.org/obo/MONDO_0010601 gynecomastia, familial|hereditary gynecomastia MONDO:0009634 microtia with meatal atresia and conductive deafness biolink:Disease mondo OMIM:251800|GARD:0000357|UMLS:C2931502|GARD:0003657|MESH:C537469 http://identifiers.org/omim/251800|MESH:C537469|UMLS:C2931502 http://purl.obolibrary.org/obo/MONDO_0009634 Gupta Patton syndrome|familial microtia with meatal atresia and conductive deafness|familial microtia and meatal atresia|microtia, meatal atresia and conductive deafness|microtia with meatal atresia and conductive deafness|microtia meatal atresia deafness dominant gard_rare MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma biolink:Disease mondo OMIM:251750|UMLS:C3538951 http://identifiers.org/omim/251750|UMLS:C3538951 http://purl.obolibrary.org/obo/MONDO_0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma; MSPKA|MSPKA|microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MONDO:0010604 hemophilia B biolink:Disease mondo EFO:0009154|NCIT:C26721|SCTID:41788008|OMIM:306900|ICD10:D67|ICD9:286.1|MESH:D002836|MedDRA:10016077|UMLS:C0008533|DOID:12259|Orphanet:98879|GARD:0008732 Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. MESH:D002836|http://identifiers.org/omim/306900|MEDDRA:10016077|ORPHA:98879|UMLS:C0008533|DOID:12259|SNOMEDCT:41788008|NCIT:C26721 http://purl.obolibrary.org/obo/MONDO_0010604 congenital factor IX deficiency|factor 9 deficiency|congenital factor IX disorder|hereditary Factor IX deficiency disease|hemophilia B(M)|plasma thromboplastin component deficiency|deficiency, functional factor IX|hemophilia type B|hemophilia B; HEMB|hem B|hemophilia B Leyden|factor IX deficiency|HEMB|F9 deficiency|hereditary Factor IX deficiency|Christmas disease|hemophilia B gard_rare|ordo_disease MONDO:0010603 hemophilia A with vascular abnormality biolink:Disease mondo MESH:C564415|UMLS:C1844137|OMIM:306800 UMLS:C1844137|http://identifiers.org/omim/306800|MESH:C564415 http://purl.obolibrary.org/obo/MONDO_0010603 hemophilia A with vascular abnormality MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies biolink:Disease mondo MESH:C566884|UMLS:C1968637|OMIM:251700 http://identifiers.org/omim/251700|MESH:C566884|UMLS:C1968637 http://purl.obolibrary.org/obo/MONDO_0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies MONDO:0009631 isolated microphthalmia 1 biolink:Disease mondo UMLS:C1855052|DOID:0060840|OMIM:251600|MESH:C565377|ICD10:Q11.0 A microphthalmia that has material basis in variation in the chromosomal region 14q32. http://identifiers.org/omim/251600|UMLS:C1855052|MESH:C565377|DOID:0060840 http://purl.obolibrary.org/obo/MONDO_0009631 Mcop|microphthalmos, autosomal recessive|isolated microphthalmia type 1|microphthalmia, isolated 1|anophthalmia, clinical, isolated|MCOP1|microphthalmia, isolated 1; MCOP1 MONDO:0010606 hernia, anterior diaphragmatic biolink:Disease mondo MESH:C564413|OMIM:306950 http://identifiers.org/omim/306950|MESH:C564413 http://purl.obolibrary.org/obo/MONDO_0010606 hernia, anterior diaphragmatic MONDO:0009630 microphthalmia, isolated, with coloboma 4 biolink:Disease mondo SCTID:715771008|UMLS:C1855053|OMIM:251505 http://identifiers.org/omim/251505|UMLS:C1855053|SNOMEDCT:715771008 http://purl.obolibrary.org/obo/MONDO_0009630 MCOPCB4|microphthalmia with colobomatous cyst|microphthalmia, isolated, with coloboma type 4|microphthalmia, isolated, with coloboma 4; MCOPCB4|microphthalmia, isolated, with coloboma 4 MONDO:0010605 hemopoietic proliferation biolink:Disease mondo OMIM:306930 http://identifiers.org/omim/306930 http://purl.obolibrary.org/obo/MONDO_0010605 hemopoietic proliferation MONDO:0010608 Hhhh syndrome biolink:Disease mondo MESH:C564411|UMLS:C1844019|OMIM:306960 UMLS:C1844019|http://identifiers.org/omim/306960|MESH:C564411 http://purl.obolibrary.org/obo/MONDO_0010608 hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome|Hhhh syndrome MONDO:0010607 heterotaxy, visceral, 1, X-linked biolink:Disease mondo OMIM:306955|GARD:0008591|MESH:C538116|UMLS:C1844020|EFO:0009136 X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia. MESH:C538116|UMLS:C1844020|http://identifiers.org/omim/306955 http://purl.obolibrary.org/obo/MONDO_0010607 heterotaxy, visceral, 1, X-linked; HTX1|X-linked visceral heterotaxy 1|heterotaxy, visceral, X-linked|laterality, X-linked|HTX1|dextrocardia with Other Cardiac malformations|situs inversus, Complex Cardiac defects, and splenic defects, X-linked|congenital heart defects, multiple types, 1, X-linked|heterotaxy, visceral, 1, X-linked|ZIC3 visceral heterotaxy|visceral heterotaxy caused by mutation in ZIC3 gard_rare HGNC:2186 COL11A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2186 HGNC:2185 COL10A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2185 HGNC:2183 VPS13B biolink:OntologyClass mondo http://identifiers.org/hgnc/2183 GO:0042558 pteridine-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid. http://purl.obolibrary.org/obo/GO_0042558 pterin metabolism|pteridine-containing compound metabolism|pteridine and derivative metabolic process|pterin metabolic process|pteridine and derivative metabolism MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius biolink:Disease mondo ICD10:Q03.0|SCTID:71779008|OMIM:307000|GARD:0000434|Orphanet:2182 A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. UMLS:C0265216|http://identifiers.org/omim/307000|ORPHA:2182|SNOMEDCT:71779008 http://purl.obolibrary.org/obo/MONDO_0010611 XLAS|HYCX|hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction|hydrocephalus due to congenital stenosis of aqueduct of Sylvius; HSAS|aqueductal stenosis, X-linked|HSAS|Bickers-Adams syndrome|X-linked hydrocephalus|HSAS1|X-linked hydrocephalus with stenosis of aqueduct of Sylvius|hydrocephalus due to congenital stenosis of aqueduct of Sylvius|hydrocephalus, X-linked|X-linked HSAS|hydrocephalus with stenosis of the aqueduct of Sylvius|X-linked acqueductal stenosis ordo_clinical_subtype HGNC:2180 COCH biolink:OntologyClass mondo http://identifiers.org/hgnc/2180 MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome biolink:Disease mondo SCTID:716169009|OMIM:306990|ICD10:Q04.2|GARD:0003788|MESH:C564409|Orphanet:2570 Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested. http://identifiers.org/omim/306990|MESH:C564409|SNOMEDCT:716169009|ORPHA:2570 http://purl.obolibrary.org/obo/MONDO_0010610 holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome|holoprosencephaly with fetal akinesia/hypokinesia sequence|Morse-Rawnsley-Sargent syndrome ordo_malformation_syndrome HGNC:2188 COL12A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2188 HGNC:2187 COL11A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2187 MONDO:0019010 congenital isolated hyperinsulinism biolink:Disease mondo NCIT:C122923|GARD:0003947|ICD10:E16.1|Orphanet:657 Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism. UMLS:C1257959|MESH:D044903|NCIT:C122923|ORPHA:657 http://purl.obolibrary.org/obo/MONDO_0019010 hypoglycemia hyperinsulinemic of infancy|congenital hyperinsulinism|PHHI|persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinemic hypoglycemia familial|chi|hyperinsulinism familial with pancreatic nesidioblastosis|hyperinsulinism congenital ordo_group_of_disorders MONDO:0022662 carpo tarsal osteolysis recessive biolink:Disease mondo GARD:0001129 http://purl.obolibrary.org/obo/MONDO_0022662 gard_rare HGNC:17340 PRPF8 biolink:OntologyClass mondo http://identifiers.org/hgnc/17340 MONDO:0007029 branchio-oto-renal syndrome biolink:Disease mondo UMLS:C0265234|Orphanet:107|Wikipedia:Branchio-oto-renal_syndrome|DOID:14702|NCIT:C98983|ICD10:Q87.8|EFO:1001251|ICD9:759.89|MedDRA:10071135|MESH:D019280|SCTID:290006|GARD:0010147|UMLS:CN043574 Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). UMLS:C0265234|ORPHA:107|SNOMEDCT:290006|UMLS:CN043574|MESH:D019280|DOID:14702|NCIT:C98983|MEDDRA:10071135 http://purl.obolibrary.org/obo/MONDO_0007029 Melnick-Fraser syndrome|Branchio oto renal syndrome|Branchio-Oto-renal syndrome|branchiootorenal syndrome|branchiootorenal dysplasia|Branchio-otorenal dysplasia|bor syndrome ordo_malformation_syndrome MONDO:0022666 cassavism biolink:Disease mondo GARD:0010442 http://purl.obolibrary.org/obo/MONDO_0022666 gard_rare HGNC:20997 ZMYND15 biolink:OntologyClass mondo http://identifiers.org/hgnc/20997 MONDO:0020005 obsolete rare endocrine disease biolink:Disease mondo Orphanet:97978|UMLS:CN206938 Rare endocrine system disease. UMLS:CN206938|ORPHA:97978 http://purl.obolibrary.org/obo/MONDO_0020005 rare endocrine system disease obsoletion_candidate|ordo_group_of_disorders MONDO:0010679 Duchenne muscular dystrophy biolink:Disease mondo MESH:D020388|SCTID:76670001|MedDRA:10013801|OMIM:310200|UMLS:C0013264|Orphanet:98896|NCIT:C75482|GARD:0006291|DOID:11723|ICD10:G71.0 Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. DOID:11723|MESH:D020388|MEDDRA:10013801|SNOMEDCT:76670001|http://identifiers.org/omim/310200|UMLS:C0013264|ORPHA:98896|NCIT:C75482 http://purl.obolibrary.org/obo/MONDO_0010679 muscular dystrophy, Duchenne type; DMD|DMD|muscular dystrophy, Duchenne|muscular dystrophy, pseudohypertrophic progressive, Duchenne type|muscular dystrophy, Duchenne type|Duchenne muscular dystrophy|severe dystrophinopathy, Duchenne type ordo_disease|gard_rare MONDO:0007027 non-alcoholic steatohepatitis biolink:Disease mondo ICD10:K75.81|NCIT:C84445|MedDRA:10053219|EFO:1001249 Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure. NCIT:C84445 http://purl.obolibrary.org/obo/MONDO_0007027 nonalcoholic Steatohepatitis|nash - nonalcoholic Steatohepatitis MONDO:0020004 obsolete rare eye disease biolink:Disease mondo Orphanet:97966|UMLS:CN206937 Rare eye disease. UMLS:CN206937|ORPHA:97966 http://purl.obolibrary.org/obo/MONDO_0020004 rare eye disease obsoletion_candidate|ordo_group_of_disorders MONDO:0009689 congenital myasthenic syndrome 6 biolink:Disease mondo NCIT:C132292|ICD9:358.00|OMIM:254210|GARD:0009689|DOID:0110671|MESH:C535759|UMLS:C0393929|SCTID:230670003 Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner. NCIT:C132292|SNOMEDCT:230670003|http://identifiers.org/omim/254210|MESH:C535759|DOID:0110671|UMLS:C0393929 http://purl.obolibrary.org/obo/MONDO_0009689 congenital myasthenic syndrome caused by mutation in CHAT|FIM, formerly|congenital myasthenic syndrome type Ia2, formerly|myasthenic syndrome, congenital, 6, presynaptic; CMS6|CMS1A2|CMS1A2, formerly|CMS1A|familial infantile myasthenia|myasthenia, familial infantile, formerly|congenital myasthenic syndrome type 6|myasthenia gravis, familial infantile, 2|CMS-ea|myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|CMS w/episodic apnea|myasthenia, familial infantile|FIMG2|FIMG2 (formerly)|myasthenic syndrome, congenital, 6, presynaptic|congenital presynaptic myasthenic syndrome associated with episodic apnea|CMSEA|myasthenia gravis familial infantile 2 (formerly)|presynaptic congenital myasthenic syndrome 6|myasthenic syndrome, congenital, associated with episodic apnea|Cms Ia2, formerly|familial infantile myasthenia gravis 2|FIMG2, formerly|CMS Ia2|Cms Ia2|CMS Ia2, formerly|congenital myasthenic syndrome 6, presynaptic|congenital myasthenic syndrome with episodic apnea|FIM|myasthenia familial infantile|CHAT congenital myasthenic syndrome|myasthenic syndrome congenital associated with episodic apnea|CMS6|congenital myasthenic syndrome type Ia2|congenital myasthenic syndrome type 1a|myasthenia gravis, familial infantile, 2, formerly|congenital myasthenic syndrome type Ia gard_rare MONDO:0007028 rotator cuff syndrome biolink:Disease mondo UMLS:C0263912|EFO:1001250|ICD9:726.10|ICD10:M75.1|https://en.wikipedia.org/wiki/Rotator_cuff_tear|SCTID:4106009 Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder. SNOMEDCT:4106009|UMLS:C0263912 http://purl.obolibrary.org/obo/MONDO_0007028 rotator cuff tear MONDO:0010678 muscular dystrophy, progressive Pectorodorsal biolink:Disease mondo MESH:C564095|UMLS:C1839669|OMIM:310095 http://identifiers.org/omim/310095|MESH:C564095|UMLS:C1839669 http://purl.obolibrary.org/obo/MONDO_0010678 muscular dystrophy, progressive Pectorodorsal|muscular dystrophy, progressive, involving shoulder girdle and back GO:0042562 hormone binding biolink:OntologyClass mondo Interacting selectively and non-covalently with any hormone, naturally occurring substances secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor. http://purl.obolibrary.org/obo/GO_0042562 MONDO:0009688 myasthenia gravis biolink:Disease mondo ICD10:G70.0|DOID:437|MESH:D009157|ICD10:G70.00|COHD:76685|EFO:0004991|SCTID:91637004|NCIT:C60989|UMLS:C0026896|OMIM:254200|GARD:0007122|MedDRA:10028417|Orphanet:589|ICD9:358.0|ICD9:358.00 Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. ORPHA:589|http://identifiers.org/omim/254200|MEDDRA:10028417|NCIT:C60989|MESH:D009157|DOID:437|SNOMEDCT:91637004|UMLS:C0026896 http://purl.obolibrary.org/obo/MONDO_0009688 myasthenia gravis|myasthenia gravis; MG|autoimmune myasthenia gravis|MG|acquired myasthenia gard_rare|ordo_disease MONDO:0020003 obsolete rare surgical cardiac disease biolink:Disease mondo Orphanet:97965|UMLS:CN206936 UMLS:CN206936|ORPHA:97965 http://purl.obolibrary.org/obo/MONDO_0020003 obsoletion_candidate|ordo_group_of_disorders MONDO:0007025 chancre biolink:Disease mondo MESH:D002601|EFO:1001247 The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection. MESH:D002601 http://purl.obolibrary.org/obo/MONDO_0007025 HGNC:29326 SLC7A14 biolink:OntologyClass mondo http://identifiers.org/hgnc/29326 MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors biolink:Disease mondo UMLS:C1850806|OMIM:254190|MESH:C564979 http://identifiers.org/omim/254190|MESH:C564979|UMLS:C1850806 http://purl.obolibrary.org/obo/MONDO_0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors MONDO:0020002 obsolete rare surgical thoracic disease biolink:Disease mondo Orphanet:97962|UMLS:CN206935 ORPHA:97962|UMLS:CN206935 http://purl.obolibrary.org/obo/MONDO_0020002 obsoletion_candidate|ordo_group_of_disorders MONDO:0007026 obsolete non-alcoholic fatty liver biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007026 MONDO:0009686 musk, inability to smell biolink:Disease mondo MESH:C564980|OMIM:254150|UMLS:C1850807 http://identifiers.org/omim/254150|MESH:C564980|UMLS:C1850807 http://purl.obolibrary.org/obo/MONDO_0009686 musk, inability to smell MONDO:0007023 Yersinia infectious disease biolink:Disease mondo MESH:D015009|NCIT:C128337|SCTID:83436008|EFO:1001245 Infections with bacteria of the genus yersinia. SNOMEDCT:83436008|MESH:D015009|NCIT:C128337 http://purl.obolibrary.org/obo/MONDO_0007023 infections, Yersinia |infections, Yersinia|Yersinia infection|Yersinia infection|yersiniosis|infection, Yersinia MONDO:0020001 respiratory or thoracic malformation biolink:Disease mondo Orphanet:97957 ORPHA:97957 http://purl.obolibrary.org/obo/MONDO_0020001 ordo_group_of_disorders MONDO:0009685 Miyoshi myopathy biolink:Disease mondo DOID:0070198|GARD:0009676|ORDO:45448|Orphanet:45448|MESH:C537480|ICD10:G71.0|NCIT:C118846|OMIMPS:254130 Miyoshi myopathy (MM) is a distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. DOID:0070198|ORPHA:45448|NCIT:C118846|MESH:C537480 http://purl.obolibrary.org/obo/MONDO_0009685 Miyoshi muscular dystrophy|muscular dystrophy, distal, late onset, autosomal recessive|MMD1|MM|Miyoshi distal myopathy|Miyoshi muscular dystrophy type 1|Miyoshi muscular dystrophy 1 gard_rare|ordo_disease|prototype_pattern MONDO:0007024 Yersinia pseudotuberculosis infectious disease biolink:Disease mondo SCTID:36753006|UMLS:C0043410|MESH:D015012|EFO:1001246 Infections with bacteria of the species yersinia pseudotuberculosis. SNOMEDCT:36753006|MESH:D015012|UMLS:C0043410 http://purl.obolibrary.org/obo/MONDO_0007024 infection by Yersinia pseudotuberculosis|Pasteurella Pseudotuberculoses|pseudotuberculosis, Pasteurella|infections, Yersinia pseudotuberculosis|pseudotuberculosis|Pasteurella pseudotuberculosis|Pseudotuberculoses, Pasteurella|infection by Pasteurella pseudotuberculosis MONDO:0020000 obsolete rare respiratory disease biolink:Disease mondo Orphanet:97955|UMLS:CN206934 Rare respiratory system disease. ORPHA:97955|UMLS:CN206934 http://purl.obolibrary.org/obo/MONDO_0020000 rare respiratory system disease obsoletion_candidate|ordo_group_of_disorders MONDO:0009684 muscular hypertonia, lethal biolink:Disease mondo UMLS:C1850827|MESH:C564982|OMIM:254120 http://identifiers.org/omim/254120|MESH:C564982|UMLS:C1850827 http://purl.obolibrary.org/obo/MONDO_0009684 muscular hypertonia, lethal MONDO:0007021 wheat allergic disease biolink:Disease mondo ICD9:995.3|MESH:D021182|SCTID:420174000|UMLS:C0949570|DOID:3660|EFO:1001243 Allergic reaction to wheat that is triggered by the immune system. DOID:3660|MESH:D021182|SNOMEDCT:420174000|UMLS:C0949570 http://purl.obolibrary.org/obo/MONDO_0007021 wheat based food product allergic disease|wheat allergic reaction|allergic disease from wheat based food product|allergy of wheat based food product|allergy to wheat|wheat allergy MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H biolink:Disease mondo ICD10:G71.0|GARD:0003844|UMLS:C0270968|Orphanet:1878|OMIM:254110|DOID:0110282|MESH:C535897|SCTID:43226001|ICD9:359.89 Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. http://identifiers.org/omim/254110|MESH:C535897|SNOMEDCT:43226001|UMLS:C0270968|ORPHA:1878|DOID:0110282 http://purl.obolibrary.org/obo/MONDO_0009683 muscular dystrophy limb-girdle type 2H|limb-girdle muscular dystrophy type 2H|muscular dystrophy Hutterite type|muscular dystrophy, limb-girdle, type 2H; LGMD2H|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32|sarcotubular myopathy|muscular dystrophy, limb-girdle, type 2H|LGMD2H|muscular dystrophy, Hutterite type|TRIM32 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to TRIM32 deficiency|Sarcotubular myopathy ordo_disease MONDO:0007022 xanthogranulomatous pyelonephritis biolink:Disease mondo UMLS:C0034188|GARD:0012021|MESH:D011705|NCIT:C123038|ICD9:582.89|MedDRA:10074389|SCTID:38898003|EFO:1001244|DOID:11401 Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. MESH:D011705|SNOMEDCT:38898003|UMLS:C0034188|DOID:11401|NCIT:C123038 http://purl.obolibrary.org/obo/MONDO_0007022 xanthogranulomatous pyelonephritis MONDO:0009682 muscular dystrophy, congenital, with rapid progression biolink:Disease mondo UMLS:C1850840|OMIM:254100|MESH:C564983 http://identifiers.org/omim/254100|MESH:C564983|UMLS:C1850840 http://purl.obolibrary.org/obo/MONDO_0009682 muscular dystrophy, congenital, with rapid progression MONDO:0010682 myoclonic epilepsy, progressive, X-linked biolink:Disease mondo OMIM:310370 http://identifiers.org/omim/310370 http://purl.obolibrary.org/obo/MONDO_0010682 myoclonic epilepsy, progressive HGNC:2197 COL1A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2197 MONDO:0007020 Wernicke encephalopathy biolink:Disease mondo DOID:2384|EFO:1001241|UMLS:C0043121|ICD9:265.1|SCTID:21007002|MESH:D014899|ICD10:E51.2 An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) DOID:2384|UMLS:C0043121|SNOMEDCT:21007002|MESH:D014899 http://purl.obolibrary.org/obo/MONDO_0007020 Wernicke's encephalopathy|Wernicke's disease MONDO:0009681 Ullrich congenital muscular dystrophy 1 biolink:Disease mondo OMIM:254090|UMLS:CN033863 UMLS:CN033863|http://identifiers.org/omim/254090 http://purl.obolibrary.org/obo/MONDO_0009681 Ullrich disease|Ullrich Scleroatonic muscular dystrophy|UCMD1|Ullrich congenital muscular dystrophy 1; UCMD1|Ullrich congenital muscular dystrophy|Ullrich congenital muscular dystrophy 1|Ullrich congenital muscular dystrophy type 1|muscular dystrophy, Scleroatonic MONDO:0010681 myelolymphatic insufficiency biolink:Disease mondo OMIM:310350|UMLS:C1839650 http://identifiers.org/omim/310350|UMLS:C1839650 http://purl.obolibrary.org/obo/MONDO_0010681 Myelolymphatic insufficiency|Pelger-like anomaly with leukopenia and susceptibility to infections MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome biolink:Disease mondo UMLS:C1850864|Orphanet:1875|OMIM:254000|GARD:0000835|UMLS:C2931578|GARD:0003842 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. UMLS:C2931578|UMLS:C1850864|ORPHA:1875|http://identifiers.org/omim/254000 http://purl.obolibrary.org/obo/MONDO_0009680 muscular dystrophy, congenital, with infantile cataract and hypogonadism|Bassoe syndrome|benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract|muscular dystrophy, congenital, infantile with cataract and hypogonadism|familial congenital muscular dystrophy with gonadal dysgenesis gard_rare|ordo_disease MONDO:0010684 X-linked myopathy with excessive autophagy biolink:Disease mondo OMIM:310440|UMLS:C2931230|Orphanet:25980|DOID:0050760|MESH:C536522|GARD:0003892|UMLS:C1839615|ICD10:G71.8|SCTID:719815005 X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. http://identifiers.org/omim/310440|UMLS:C1839615|DOID:0050760|MESH:C536522|UMLS:C2931230|ORPHA:25980|SNOMEDCT:719815005 http://purl.obolibrary.org/obo/MONDO_0010684 MEAX|XMEA|vacuolar myopathy|myopathy, X-linked, with excessive autophagy|myopathy, X-linked, with excessive autophagy; MEAX gard_rare|ordo_disease HGNC:2195 COL18A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2195 MONDO:0010683 X-linked centronuclear myopathy biolink:Disease mondo GARD:0011925|Orphanet:596|UMLS:C0410203|SCTID:46804001|ICD10:G71.2|NCIT:C118781|OMIM:310400 X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. NCIT:C118781|UMLS:C0410203|MESH:C538647|http://identifiers.org/omim/310400|ORPHA:596|SNOMEDCT:46804001 http://purl.obolibrary.org/obo/MONDO_0010683 CNMX|MTM|myotubular myopathy, X-linked|myotubular myopathy 1|X-linked myotubular myopathy|myopathy, centronuclear, X-linked; CNMX|centronuclear myopathy, X-linked|XLMTM|myopathy, centronuclear, X-linked|XLCNM ordo_disease HGNC:2194 COL17A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2194 MONDO:0010686 N syndrome biolink:Disease mondo MESH:C536108|SCTID:723410002|DOID:0050769|GARD:0003902|ICD10:Q87.8|UMLS:C2936859|OMIM:310465|Orphanet:2608 N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity. ORPHA:2608|UMLS:C2936859|http://identifiers.org/omim/310465|MESH:C536108|DOID:0050769|SNOMEDCT:723410002 http://purl.obolibrary.org/obo/MONDO_0010686 N syndrome|NSX|N syndrome; NSX|intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia|mental retardation, malformations, chromosome breakage, and development of T-cell leukemia ordo_malformation_syndrome|gard_rare MONDO:0010685 MYP1 biolink:Disease mondo MESH:C564091|UMLS:C1839612|OMIM:310460 http://identifiers.org/omim/310460|MESH:C564091|UMLS:C1839612 http://purl.obolibrary.org/obo/MONDO_0010685 MYP1|myopia 1, X-linked; MYP1|myopia 1, X-linked MONDO:0019019 osteogenesis imperfecta biolink:Disease mondo GARD:0001017|OMIMPS:166200|Orphanet:666|COHD:78257|DOID:12347|NCIT:C26837|ICD10:Q78.0|MESH:D010013|UMLS:C0029434|MedDRA:10031243|ICD9:756.51|SCTID:78314001 Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. ORPHA:666|MESH:D010013|DOID:12347|MEDDRA:10031243|UMLS:C0029434|SNOMEDCT:78314001|NCIT:C26837 http://purl.obolibrary.org/obo/MONDO_0019019 Porak and Durante disease|Vrolik disease|Osteopsathyrosis|Lobstein's syndrome|Fragilitas ossium|OI|Lobstein disease|Vrolik's disease|brittle bone disease|glass bone disease gard_rare|ordo_disease HGNC:17349 PRPF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/17349 MONDO:0010688 hereditary sensory neuropathy X-linked biolink:Disease mondo UMLS:C1839602|OMIM:310470|MESH:C564090|DOID:0070159 A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. DOID:0070159|http://identifiers.org/omim/310470|UMLS:C1839602|MESH:C564090 http://purl.obolibrary.org/obo/MONDO_0010688 neuropathy, hereditary sensory, X-linked MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure biolink:Disease mondo OMIM:310468|SCTID:236713006|MESH:C562901 MESH:C562901|SNOMEDCT:236713006|http://identifiers.org/omim/310468 http://purl.obolibrary.org/obo/MONDO_0010687 urolithiasis, X-linked recessive, type 1|nephrolithiasis, X-linked recessive, with renal failure|XRN|nephrolithiasis, X-linked recessive, type 1|nephrolithiasis 1|nephrolithiasis, X-linked recessive, with renal failure; XRN HGNC:2190 COL13A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2190 MONDO:0019016 maternally-inherited progressive external ophthalmoplegia biolink:Disease mondo Orphanet:663|UMLS:CN924917|ICD10:H49.4 ORPHA:663|UMLS:CN924917 http://purl.obolibrary.org/obo/MONDO_0019016 maternally-inherited chronic progressive external ophthalmoplegia|maternally-inherited CPEO ordo_disease MONDO:0019015 omphalocele (disease) biolink:Disease mondo MedDRA:10030308|HP:0001539|ICD10:Q79.2|UMLS:C0795690|Orphanet:660|DOID:0060327|ICD9:756.72|NCIT:C98997|SCTID:18735004 Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac. ORPHA:660|DOID:0060327|MEDDRA:10030308|NCIT:C98997|SNOMEDCT:18735004|UMLS:C0795690 http://purl.obolibrary.org/obo/MONDO_0019015 omphalocoele|exomphalos|omphalocele|eventration|congenital omphalocele ordo_morphological_anomaly MONDO:0019018 Tako-tsubo cardiomyopathy biolink:Disease mondo ICD10:I42.8|UMLS:CN205479|NCIT:C85181|EFO:1002000|MESH:D054549|GARD:0009400|ICD9:429.83|COHD:40479589|UMLS:C1739395|SCTID:441541008|Orphanet:66529 Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers. MESH:D054549|SNOMEDCT:441541008|NCIT:C85181|ORPHA:66529|UMLS:CN205479|UMLS:C1739395 http://purl.obolibrary.org/obo/MONDO_0019018 ampulla cardiomyopathy|broken heart syndrome|transient left ventricular apical ballooning syndrome|left ventricular transient apical ballooning|Takotsubo cardiomyopathy|Tako tsubo syndrome|ballooning cardiomyopathy|stress cardiomyopathy|apical ballooning syndrome|Takotsubo syndrome|transient antero-apical dyskinesia|acute stress cardiomyopathy|stress-induced cardiomyopathy|ASC|broken-heart syndrome|Tako-Tsubo syndrome ordo_disease HGNC:17348 PRPF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/17348 MONDO:0019017 short fifth metacarpals-insulin resistance syndrome biolink:Disease mondo UMLS:CN205478|ICD10:E13|Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. ORPHA:66518|UMLS:CN205478 http://purl.obolibrary.org/obo/MONDO_0019017 ordo_disease MONDO:0019012 Carpenter syndrome biolink:Disease mondo GARD:0006003|SCTID:403767009|UMLS:CN229565|NCIT:C98873|UMLS:C1275078|Orphanet:65759|ICD10:Q87.0|OMIMPS:201000|DOID:0060234 An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. DOID:0060234|UMLS:C1275078|NCIT:C98873|ORPHA:65759|UMLS:CN229565|SNOMEDCT:403767009 http://purl.obolibrary.org/obo/MONDO_0019012 acrocephalopolysyndactyly type 2|Carpenter syndrome|Carpenter 's syndrome|acrocephalosyndactyly, type II|type II Acrocephalopolysyndactyly|acrocephalopolysyndactyly type II|ACPS2 ordo_malformation_syndrome HGNC:17342 BRWD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/17342 MONDO:0019011 Charcot-Marie-Tooth disease type 1 biolink:Disease mondo Orphanet:65753|ICD10:G60.0|DOID:0050538|GARD:0012433|SCTID:398040009 Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. ORPHA:65753|SNOMEDCT:398040009|DOID:0050538 http://purl.obolibrary.org/obo/MONDO_0019011 autosomal dominant demyelinating Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy type 1|hereditary motor and sensory neuropathy type 1|Charcot-Marie-Tooth type 1|CMT1 ordo_group_of_disorders HGNC:17341 TRNT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17341 MONDO:0019014 mutilating palmoplantar keratoderma with periorificial keratotic plaques biolink:Disease mondo Orphanet:659|OMIM:614594|UMLS:C2609071|GARD:0004075|ICD10:Q82.8|MedDRA:10068842 Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. ORPHA:659|UMLS:C2609071|MEDDRA:10068842|http://identifiers.org/omim/614594 http://purl.obolibrary.org/obo/MONDO_0019014 Olmsted syndrome|palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques gard_rare|ordo_disease MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy biolink:Disease mondo Orphanet:98863|GARD:0002102|DOID:0070246|UMLS:CN069573|OMIM:310300|ICD10:G71.0|UMLS:C0751337 X-linked form of Emery-Dreifuss muscular dystrophy. http://identifiers.org/omim/310300|UMLS:CN069573|UMLS:C0751337|ORPHA:98863|DOID:0070246 http://purl.obolibrary.org/obo/MONDO_0010680 EMERY-Dreifuss muscular dystrophy 1, X-linked; EDMD1|Humeroperoneal neuromuscular disease, formerly|Emery-Dreifuss muscular dystrophy 1, X-linked|Humeroperoneal neuromuscular disease|Emery-Dreifuss muscular dystrophy, X-linked|scapuloperoneal syndrome, X-linked|Emerinopathy|EDMD1|scapuloperoneal syndrome, X-linked, formerly|humeroperoneal neuromuscular disease|muscular dystrophy, tardive, Dreifuss-Emery type, with contractures|muscular dystrophy, tardive Emery-Dreifuss type, with contractures|EMD1|EMERY-Dreifuss muscular dystrophy 1, X-linked ordo_etiological_subtype MONDO:0019013 non-histaminic angioedema biolink:Disease mondo UMLS:CN227560|ICD9:995.1|Orphanet:658|SCTID:41291007 Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. SNOMEDCT:41291007|UMLS:CN227560|ORPHA:658 http://purl.obolibrary.org/obo/MONDO_0019013 angioneurotic edema|non histamine-induced angioedema|bradykinine-induced angioedema ordo_group_of_disorders HGNC:2198 COL1A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2198 MONDO:0022650 cardiomyopathy diabetes deafness biolink:Disease mondo GARD:0001103 http://purl.obolibrary.org/obo/MONDO_0022650 gard_rare MONDO:0022651 obsolete cardiomyopathy dilated with conduction defect type 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022651 MONDO:0022652 obsolete cardiomyopathy dilated with conduction defect type 2 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0022652 MONDO:0022653 cardiomyopathy due to anthracyclines biolink:Disease mondo GARD:0001107 http://purl.obolibrary.org/obo/MONDO_0022653 gard_rare MONDO:0022654 cardiomyopathy hypogonadism collagenoma syndrome biolink:Disease mondo MESH:C535582 MESH:C535582 http://purl.obolibrary.org/obo/MONDO_0022654 cardiomyopathy-hypogonadism-collagenoma syndrome MONDO:0022655 cardiomyopathy hypogonadism metabolic anomalies biolink:Disease mondo GARD:0001109 http://purl.obolibrary.org/obo/MONDO_0022655 gard_rare HGNC:30304 RGS9BP biolink:OntologyClass mondo http://identifiers.org/hgnc/30304 MONDO:0022656 cardiomyopathy spherocytosis biolink:Disease mondo GARD:0001110 http://purl.obolibrary.org/obo/MONDO_0022656 gard_rare MONDO:0010668 skeletal dysplasia-intellectual disability syndrome biolink:Disease mondo GARD:0003520|SCTID:722478008|Orphanet:1436|ICD10:Q87.5|MESH:C564101|OMIM:309620|UMLS:C1839729 Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked. http://identifiers.org/omim/309620|ORPHA:1436|MESH:C564101|SNOMEDCT:722478008|UMLS:C1839729 http://purl.obolibrary.org/obo/MONDO_0010668 intellectual disability, skeletal dysplasia, and abducens palsy; MRSD|intellectual disability, skeletal dysplasia, and abducens palsy|mental retardation, skeletal dysplasia, and abducens palsy|X-linked skeletal dysplasia-intellectual disability syndrome|mental retardation, skeletal dysplasia, and abducens palsy; MRSD|MRSD|Christian syndrome|intellectual disability skeletal dysplasia abducens palsy|mental retardation skeletal dysplasia abducens palsy ordo_malformation_syndrome|gard_rare MONDO:0007038 Achoo syndrome biolink:Disease mondo GARD:0010036|EFO:0007887|MESH:C535300|OMIM:100820|UMLS:C1863416 MESH:C535300|UMLS:C1863416|http://identifiers.org/omim/100820 http://purl.obolibrary.org/obo/MONDO_0007038 Peroutka sneeze|Achoo syndrome|autosomal dominant compelling Helioophthalmic outburst syndrome|photic sneeze reflex|sneezing from Light exposure|autosomal dominant compelling helio ophthalmic outburst syndrome MONDO:0010667 Prieto syndrome biolink:Disease mondo DOID:0060805|MESH:C535274|GARD:0004482|SCTID:719140001|Orphanet:2958|OMIM:309610|NCIT:C18058 This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth. DOID:0060805|http://identifiers.org/omim/309610|NCIT:C18058|ORPHA:2958|MESH:C535274|SNOMEDCT:719140001 http://purl.obolibrary.org/obo/MONDO_0010667 Prieto X-linked mental retardation syndrome; PRS|X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome|Prieto-Badia-Mulas syndrome|intellectual disability, X-linked, syndromic 2|mental retardation, X-linked, syndromic 2|Prieto X-linked intellectual disability syndrome; PRS|Prieto X-linked intellectual disability syndrome|intellectual disability, X-linked, with Dysmorphism and cerebral atrophy|PRS|MRXS2|mental retardation, X-linked, with Dysmorphism and cerebral atrophy|Prieto X-linked mental retardation syndrome ordo_malformation_syndrome MONDO:0007039 neurofibromatosis type 2 biolink:Disease mondo NCIT:C3274|ICD9:237.72|ICD10:Q85.02|GARD:0007193|Orphanet:637|UMLS:C0027832|COHD:380975|SCTID:92503002|MedDRA:10000523|MedDRA:10029271|OMIM:101000|ICD10:Q85.0 Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. MEDDRA:10029271|ORPHA:637|SNOMEDCT:92503002|NCIT:C3274|MESH:D016518|MEDDRA:10000523|http://identifiers.org/omim/101000|MESH:D009464|UMLS:C0027832|UMLS:C0027859 http://purl.obolibrary.org/obo/MONDO_0007039 neurofibromatosis central type|acoustic Schwannomas, bilateral|neurofibromatosis, central type|acoustic neurofibromatosis|acoustic schwannomas bilateral|neurofibromatosis type 2|NF2|neurofibromatosis 2|central neurofibromatosis|neurofibromatosis type II|neurofibromatosis, type II; NF2|neurofibromatosis, type II|acoustic neurinoma, bilateral|neurofibromatosis, type 2|acoustic neurinoma bilateral|bilateral acoustic neurofibromatosis clingen|ordo_disease MONDO:0007036 Achard syndrome biolink:Disease mondo UMLS:C1332135|DOID:6686|MESH:C536012|OMIM:100700|GARD:0008176|NCIT:C35809 A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. UMLS:C1332135|DOID:6686|http://identifiers.org/omim/100700|MESH:C536012|NCIT:C35809 http://purl.obolibrary.org/obo/MONDO_0007036 Achard syndrome|arachnodactyly, receding lower jaw and joint laxity of hands/feet gard_rare MONDO:0009699 action myoclonus-renal failure syndrome biolink:Disease mondo SCTID:764453009|Orphanet:163696|OMIM:254900 Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. ORPHA:163696|SNOMEDCT:764453009|http://identifiers.org/omim/254900 http://purl.obolibrary.org/obo/MONDO_0009699 myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|EPM4|myoclonus-nephropathy syndrome|epilepsy, progressive myoclonic, 4, with or without renal failure|epilepsy, progressive myoclonic, 4, with or without renal failure; EPM4|AMRF|action myoclonus-renal failure syndrome ordo_disease MONDO:0009698 Unverricht-Lundborg syndrome biolink:Disease mondo GARD:0003876|UMLS:C0751785|ICD10:G40.3|MESH:D020194|SCTID:230423006|MedDRA:10054895|DOID:3535|Orphanet:308|OMIM:254800 Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. UMLS:C0751785|DOID:3535|SNOMEDCT:230423006|http://identifiers.org/omim/254800|MESH:D020194|MEDDRA:10054895|ORPHA:308 http://purl.obolibrary.org/obo/MONDO_0009698 PME type 1|progressive myoclonic epilepsy|Unverricht's disease|Unverricht - Lundborg disease|progressive myoclonus epilepsy Baltic myoclonic epilepsy|Uld|progressive myoclonus epilepsy type 1|EPM1|epilepsy, progressive myoclonus 1|myoclonic epilepsy of Unverricht and Lundborg|Baltic myoclonic epilepsy|Unverricht-Lundborg disease|progressive myoclonic epilepsy type 1|epilepsy, progressive myoclonic type 1|epilepsy, progressive myoclonic, 1A|myoclonus progressive epilepsy of Unverricht and Lundborg|epilepsy, progressive myoclonic, 1|ULD ordo_malformation_syndrome MONDO:0007037 achondroplasia biolink:Disease mondo COHD:4311402|MESH:D000130|OMIM:100800|DOID:4480|UMLS:C0001080|MedDRA:10000452|Orphanet:15|GARD:0008173|SCTID:86268005|NCIT:C34345|ICD10:Q77.4 Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. SNOMEDCT:86268005|ORPHA:15|MEDDRA:10000452|UMLS:C0001080|MESH:D000130|http://identifiers.org/omim/100800|NCIT:C34345|DOID:4480 http://purl.obolibrary.org/obo/MONDO_0007037 ach|achondroplasia|achondroplasia; ach|achondroplastic physique|osteosclerosis congenita|achondroplastic dwarfism|chondrodystrophia gard_rare|clingen|ordo_disease MONDO:0010669 syndactyly type 8 biolink:Disease mondo UMLS:C1839728|OMIM:309630|GARD:0003559|ICD10:Q70.0|SCTID:715442006|Orphanet:2498|MESH:C564100 Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers. http://identifiers.org/omim/309630|SNOMEDCT:715442006|ORPHA:2498|UMLS:C1839728|MESH:C564100 http://purl.obolibrary.org/obo/MONDO_0010669 MF4|metacarpal 4-5 fusion; MF4|fusion of metacarpals 4 and 5|metacarpal 4-5 fusion|FGF16 non-syndromic syndactyly|non-syndromic syndactyly caused by mutation in FGF16|metacarpals 4 and 5 fusion gard_rare|ordo_morphological_anomaly MONDO:0009697 Lafora disease biolink:Disease mondo ICD10:G40.3|GARD:0008214|NCIT:C84804|OMIM:254780|Orphanet:501|UMLS:C0751783|MESH:D020192|SCTID:230425004|DOID:3534|MedDRA:10054030 Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. UMLS:C0751783|DOID:3534|http://identifiers.org/omim/254780|MESH:D020192|MEDDRA:10054030|NCIT:C84804|ORPHA:501|SNOMEDCT:230425004 http://purl.obolibrary.org/obo/MONDO_0009697 EPM2|Lafora progressive myoclonic epilepsy|progressive myoclonic epilepsy type 2|myoclonic epilepsy of Lafora|Lafora's disease|Melf|Lafora body disorder|epilepsy, progressive myoclonic, 2B|Lafora body disease|epilepsy, progressive myoclonic, 2A|Epm2|Lafora disease|PME type 2|progressive myoclonus epilepsy type 2|epilepsy progressive myoclonic 2 ordo_disease|gard_rare MONDO:0007034 Adams-Oliver syndrome biolink:Disease mondo ICD9:759.89|ICD10:Q87.2|SCTID:34748004|UMLS:C0265268|GARD:0005739|MESH:C538225|DOID:0060227|OMIMPS:100300|Orphanet:974 Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects. ORPHA:974|DOID:0060227|MESH:C538225|UMLS:C0265268|SNOMEDCT:34748004 http://purl.obolibrary.org/obo/MONDO_0007034 congenital scalp defects with distal limb anomalies|Adams Oliver syndrome|limb, scalp and skull defects|AOS|limb scalp and skull defects|congenital scalp defects with distal limb reduction anomalies ordo_malformation_syndrome|gard_rare HGNC:29331 EPG5 biolink:OntologyClass mondo http://identifiers.org/hgnc/29331 MONDO:0007035 acanthosis nigricans (disease) biolink:Disease mondo SCTID:402599005|NCIT:C26687|Wikipedia:Acanthosis_nigricans|ICD10:L83|DOID:3138|MESH:D000052|HP:0000956|UMLS:C0000889|EFO:1000660|COHD:4299544 A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy. NCIT:C26687|SNOMEDCT:402599005|MESH:D000052|UMLS:C0000889|DOID:3138 http://purl.obolibrary.org/obo/MONDO_0007035 acanthosis nigricans|an - acanthosis nigricans|keratosis nigricans MONDO:0009696 juvenile myoclonic epilepsy biolink:Disease mondo MESH:D020190|DOID:4890|Orphanet:307|EFO:0006572|ICD10:G40.3|NCIT:C84796|GARD:0006808|MedDRA:10071082|OMIMPS:254770|ICD9:345.10|SCTID:6204001|UMLS:C0270853 Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). http://identifiers.org/omim/254770|MESH:D020190|MEDDRA:10071082|NCIT:C84796|SNOMEDCT:6204001|UMLS:C0270853|ORPHA:307|DOID:4890 http://purl.obolibrary.org/obo/MONDO_0009696 epilepsy, myoclonic juvenile|Petit Mal, impulsive|Janz syndrome|Janz syndrome|myoclonic epilepsy, juvenile, susceptibility to, 1|juvenile myoclonus epilepsy|myoclonic epilepsy, juvenile, 1|myoclonic epilepsy, juvenile|JME|EJM|epilepsy, myoclonic juvenile; EJM gard_rare|predisposition|ordo_disease MONDO:0007032 prune belly syndrome biolink:Disease mondo SCTID:5187006|ICD9:756.71|UMLS:C0033770|MedDRA:10051025|GARD:0007479|MESH:D011535|DOID:0060889|ICD10:Q79.4|NCIT:C85033|Orphanet:2970|OMIM:100100 Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. NCIT:C85033|SNOMEDCT:5187006|DOID:0060889|UMLS:C0033770|http://identifiers.org/omim/100100|MEDDRA:10051025|UMLS:C0265363|ORPHA:2970|MESH:C536477|MESH:D011535 http://purl.obolibrary.org/obo/MONDO_0007032 abdominal muscle deficiency syndrome|Obrisnksy syndrome|PBS|eagle-Barrett syndrome|abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism|prune belly syndrome|Obrinsky syndrome|triad syndrome|prune belly syndrome; PBS|syndrome of agenesis of abdominal muscles|eagle-Barret syndrome ordo_malformation_syndrome MONDO:0009695 myeloproliferative disease, autosomal recessive biolink:Disease mondo OMIM:254700|UMLS:C1850779|MESH:C564977 MESH:C564977|http://identifiers.org/omim/254700|UMLS:C1850779 http://purl.obolibrary.org/obo/MONDO_0009695 myeloproliferative disease, autosomal recessive MONDO:0009694 myeloperoxidase deficiency biolink:Disease mondo ICD9:288.8|SCTID:234433009|MESH:C562864|ICD10:E80.3|GARD:0003868|Orphanet:2587|UMLS:C0398595|OMIM:254600 http://identifiers.org/omim/254600|MESH:C562864|ORPHA:2587|SNOMEDCT:234433009|UMLS:C0398595 http://purl.obolibrary.org/obo/MONDO_0009694 myeloperoxidase deficiency|myeloperoxidase deficiency; MPOD|MPOD|MPO deficiency ordo_disease|gard_rare MONDO:0007033 abducens nerve palsy biolink:Disease mondo OMIM:100200|ICD9:378.54|COHD:381572|SCTID:398963001|GARD:0009482|DOID:10865|ICD10:H49.2|NCIT:C27592 Paralysis of the abducens nerve. NCIT:C27592|SNOMEDCT:398963001|DOID:10865|http://identifiers.org/omim/100200 http://purl.obolibrary.org/obo/MONDO_0007033 sixth or abducens nerve palsy|VIth nerve disorder|6th nerve palsy|disorder of abducent nerve|abducens nerve cranial nerve palsy|abducens nerve weakness|sixth nerve palsy|abducens nerve disease|cranial nerve VI palsy|abducent nerve paralysis|lateral rectus muscle denervation paresis|sixth cranial nerve disorder|cranial mononeuropathy VI|sixth cranial nerve disorder, NOS|VI nerve palsy|lateral rectus muscle innervation disorder|sixth nerve paralysis|VIth nerve paralysis|abducens nerve disorder|sixth cranial nerve palsy|cranial nerve palsy of abducens nerve|abducens palsy GO:0042571 immunoglobulin complex, circulating biolink:OntologyClass mondo An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. http://purl.obolibrary.org/obo/GO_0042571 antibody MONDO:0009693 plasma cell myeloma biolink:Disease mondo OMIM:254500|ICD10:C90.0|GARD:0007108|NCIT:C3242|COHD:437233|EFO:0001378|DOID:9538|UMLS:C0026764|MedDRA:10028228|ONCOTREE:PCM|ICDO:9732/3|ICD10:C90.00|MESH:D009101|Orphanet:29073|ICD9:203.0 A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) http://identifiers.org/omim/254500|DOID:9538|NCIT:C3242|ORPHA:29073|MESH:D009101|UMLS:C0026764|MEDDRA:10028228 http://purl.obolibrary.org/obo/MONDO_0009693 myeloma, plasma cell, malignant|plasma cell myeloma|medullary plasmacytoma|myeloid neoplasm of plasma cell|amyloidosis, systemic|myeloma, multiple|Al amyloidosis|plasma cell myeloid neoplasm|myelomatosis|Kahler's disease|Kahler disease|myeloma, NOS|multiple myeloma/plasma cell myeloma|myeloma - multiple|multiple myeloma|myeloma ordo_disease MONDO:0007030 autosomal dominant Aarskog syndrome biolink:Disease mondo OMIM:100050|DOID:6683|ICD10:Q87.1 http://identifiers.org/omim/100050|DOID:6683 http://purl.obolibrary.org/obo/MONDO_0007030 Greig's syndrome|Aarskog syndrome, autosomal dominant|Aarskog-Scott syndrome|faciogenital dysplasia|Aarskog syndrome MONDO:0010671 microphthalmia, syndromic 1 biolink:Disease mondo SCTID:438504004|OMIM:309800|ICD9:759.89|MESH:C537464 http://identifiers.org/omim/309800|SNOMEDCT:438504004|MESH:C537464 http://purl.obolibrary.org/obo/MONDO_0010671 Maa|Lenz microphthalmia syndrome|microphthalmia, syndromic 1; MCOPS1|Lenz dysplasia|microphthalmia, syndromic type 1|MCOPS1|microphthalmia, syndromic 1|Maa, formerly MONDO:0009692 primary myelofibrosis biolink:Disease mondo Orphanet:824|ICDO:9961/3|OMIM:254450|UMLS:C2355576|ICD10:D75.81|MESH:D055728|ICD10:D47.4|ONCOTREE:PMF|UMLS:C0001815|UMLS:C0948968|ICD9:238.76|ICD9:289.83|COHD:133169|GARD:0008618|DOID:4971|EFO:0002430|NCIT:C2862 Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. NCIT:C2862|UMLS:C0948968|MESH:D055728|UMLS:C0001815|ORPHA:824|DOID:4971|http://identifiers.org/omim/254450|UMLS:C2355576 http://purl.obolibrary.org/obo/MONDO_0009692 myeloid metaplasia|Agnogenic myeloid metaplasia|idiopathic myelofibrosis|AMM|myelofibrosis with myeloid metaplasia|aleukemic myelosis|myelofibrosis|CIMF|myelosclerosis|megakaryocytic myelosclerosis|bone marrow fibrosis|myelosclerosis with myeloid metaplasia|idiopathic bone marrow fibrosis|chronic idiopathic myelofibrosis|osteomyelofibrosis|primary myelofibrosis ordo_disease MONDO:0007031 familial abdominal aortic aneurysm biolink:Disease mondo Orphanet:86|SCTID:715364001|OMIMPS:100070|UMLS:C4275172|GARD:0009181|UMLS:CN206207|ICD10:I71.4 An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome. ORPHA:86|UMLS:C4275172|SNOMEDCT:715364001|UMLS:CN206207 http://purl.obolibrary.org/obo/MONDO_0007031 hereditary abdominal aortic aneurysm|aortic aneurysm, familial abdominal ordo_disease|prototype_pattern MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome biolink:Disease mondo Orphanet:163982|UMLS:C1839727|OMIM:309640|MESH:C564099 http://identifiers.org/omim/309640|UMLS:C1839727|MESH:C564099|ORPHA:163982 http://purl.obolibrary.org/obo/MONDO_0010670 mental retardation with spastic paraplegia|intellectual disability with spastic paraplegia ordo_disease MONDO:0009691 mycosis fungoides biolink:Disease mondo EFO:1001051|ONCOTREE:MYCF|SCTID:118618005|ICD9:202.1|ICD10:C84.00|DOID:8691|UMLS:C0026948|NCIT:C3246|Orphanet:2584|ICD10:C84.0|OMIM:254400|ICDO:9700/3|MESH:D009182|GARD:0003863|MedDRA:10028483|COHD:4040380 Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. NCIT:C3246|DOID:8691|SNOMEDCT:118618005|MESH:D009182|ORPHA:2584|UMLS:C0026948|http://identifiers.org/omim/254400 http://purl.obolibrary.org/obo/MONDO_0009691 mycosis fungoides lymphoma|mycosis fungoides of unspecified site|cutaneous T-cell lymphoma/mycosis fungoides|Alibert-Bazin syndrome|mycosis fungoides NOS (morphologic abnormality)|classic mycosis fungoides|mycosis fungoides, unspecified site, extranodal and solid organ sites|CTCL/ mycosis fungoides|mycosis fungoides (morphologic abnormality)|MF|mycosis fungoides, Alibert-Bazin type|mycosis fungoides|granuloma fungoides ordo_disease|gard_rare MONDO:0010673 modifier, X-linked, for Neurofunctional defects biolink:Disease mondo UMLS:C1839708|MESH:C564098|OMIM:309840 http://identifiers.org/omim/309840|UMLS:C1839708|MESH:C564098 http://purl.obolibrary.org/obo/MONDO_0010673 Tourette syndrome, modifier of|modifier, X-linked, for Neurofunctional defects MONDO:0009690 congenital myasthenic syndrome 10 biolink:Disease mondo SCTID:230687001|OMIM:254300|DOID:0110668|ICD9:358.00 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene. SNOMEDCT:230687001|DOID:0110668|http://identifiers.org/omim/254300 http://purl.obolibrary.org/obo/MONDO_0009690 familial limb-girdle myasthenia|congenital myasthenic syndrome type 10|myasthenic syndrome, congenital, type 10|myasthenia, limb-girdle, familial, formerly|CMS1B|myasthenia, limb-girdle, familial|Cms Ib, formerly|myasthenic syndrome, congenital, 10|DOK7 congenital myasthenic syndrome|congenital myasthenic syndrome type IB|congenital myasthenic syndrome type IB, formerly|CMS10|Cms Ib|myasthenic myopathy, formerly|LGM|myasthenic syndrome, congenital, 10; CMS10|congenital myasthenic syndrome caused by mutation in DOK7|myasthenic myopathy|CMS Ib MONDO:0010672 microphthalmia with linear skin defects syndrome biolink:Disease mondo ICD10:Q11.2|GARD:0003659|SCTID:721879006|OMIMPS:309801|MESH:C537466|DC:0000705|Orphanet:2556 Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms. ORPHA:2556|MESH:C537466|SNOMEDCT:721879006 http://purl.obolibrary.org/obo/MONDO_0010672 MLS syndrome|microphthalmia dermal aplasia and sclerocornea syndrome|microphthalmia-dermal aplasia-sclerocornea syndrome|Micropthalmia syndromic 7|MIDAS syndrome|linear skin defects with multiple congenital anomalies|syndromic microphthalmia type 7|MCOPS7|linear skin defects with multiple congenital anomalies type 1|LSDMCA1|linear skin defects with multiple congenital anomalies 1 gard_rare|ordo_malformation_syndrome MONDO:0019009 isolated focal cortical dysplasia biolink:Disease mondo Orphanet:65683|ICD10:Q04.8|SCTID:766710005 Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. SNOMEDCT:766710005|ORPHA:65683 http://purl.obolibrary.org/obo/MONDO_0019009 epilepsy due to FCD ordo_disease MONDO:0010675 muscular dystrophy, cardiac type biolink:Disease mondo UMLS:C1442927|MESH:C563247|OMIM:309930 http://identifiers.org/omim/309930|UMLS:C1442927|MESH:C563247 http://purl.obolibrary.org/obo/MONDO_0010675 muscular dystrophy, cardiac type GO:0042578 phosphoric ester hydrolase activity biolink:OntologyClass mondo Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. http://purl.obolibrary.org/obo/GO_0042578 MONDO:0010674 mucopolysaccharidosis type 2 biolink:Disease mondo MedDRA:10056889|UMLS:C0026705|GARD:0006675|ICD10:E76.1|NCIT:C61260|MESH:D016532|OMIM:309900|Orphanet:580|SCTID:70737009|DOID:12799 Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. MEDDRA:10056889|MESH:D016532|http://identifiers.org/omim/309900|SNOMEDCT:70737009|UMLS:C0026705|ORPHA:580|NCIT:C61260|UMLS:C2718304|DOID:12799 http://purl.obolibrary.org/obo/MONDO_0010674 mucopolysaccharidosis II|sulfoiduronate sulfatase deficiency|mucopolysaccharidosis, MPS-II|Hunter's syndrome|MPS2|Hunter syndrome|attenuated MPS (subtype; formerly known as mild MPS II)|MPSII|mucopolysaccharidosis type II|mucopolysaccharidosis, type II|MPS II - Hunter syndrome|mucopolysaccharidosis, type II; MPS2|deficiency of iduronate-2-sulphatase|MPS II|Sids deficiency|mucopolysaccharidosis, type 2|I2S deficiency|iduronate 2-sulfatase deficiency|MPS 2|Ids deficiency|severe MPS II ordo_disease MONDO:0019008 benign recurrent intrahepatic cholestasis biolink:Disease mondo ICD10:K83.1|DOID:0070230|GARD:0012185|SCTID:31155007|Orphanet:65682|UMLS:C0149841|OMIMPS:243300 Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC). SNOMEDCT:31155007|ORPHA:65682|DOID:0070230|UMLS:C0149841 http://purl.obolibrary.org/obo/MONDO_0019008 Bric|cholestasis, benign recurrent intrahepatic|Summerskill-Walshe-Tygstrup syndrome ordo_disease|gard_rare MONDO:0010677 muscular dystrophy, Mabry type biolink:Disease mondo MESH:C564096|UMLS:C1839670|OMIM:310000 http://identifiers.org/omim/310000|MESH:C564096|UMLS:C1839670 http://purl.obolibrary.org/obo/MONDO_0010677 muscular dystrophy, Mabry type GO:0042579 microbody biolink:OntologyClass mondo Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/GO_0042579 MONDO:0010676 muscular dystrophy, Hemizygous lethal type biolink:Disease mondo UMLS:C1839671|MESH:C564097|OMIM:309950 http://identifiers.org/omim/309950|UMLS:C1839671|MESH:C564097 http://purl.obolibrary.org/obo/MONDO_0010676 muscular dystrophy, Hemizygous lethal type MONDO:0022646 cardiofacial syndrome short limbs biolink:Disease mondo GARD:0001097 http://purl.obolibrary.org/obo/MONDO_0022646 gard_rare MONDO:0019005 nephronophthisis (disease) biolink:Disease mondo OMIMPS:256100|HP:0000090|DOID:12712|Orphanet:655|UMLS:C0687120|ICD10:Q61.5|NCIT:C123200|GARD:0000206|UMLS:C2939174 Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. ORPHA:655|DOID:12712|UMLS:C2939174|NCIT:C123200|UMLS:C0687120 http://purl.obolibrary.org/obo/MONDO_0019005 medullary cystic disease|medullary cystic kidney|nephronophthisis ordo_disease|gard_rare MONDO:0019004 kidney Wilms tumor biolink:Disease mondo ICDO:8960/3|DOID:2154|Orphanet:654|MedDRA:10029145|ICD10:C64|DOID:5176|ONCOTREE:WT|UMLS:C0027708|SCTID:302849000|DC:0000457|NCIT:C40407 An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. ORPHA:654|MEDDRA:10029145|DOID:2154|SNOMEDCT:302849000|NCIT:C40407|UMLS:C0027708|DOID:5176 http://purl.obolibrary.org/obo/MONDO_0019004 embryonal nephroma|renal Wilms tumor|nephroblastoma, malignant|renal embryonic tumor|Wilms tumor of the kidney|childhood renal Wilms' cancer|adult nephroblastoma|renal Wilms' tumor|nonanaplastic renal Wilms tumor|kidney Wilms tumor|adult renal Wilms' tumor|Wilms' tumor of the kidney|Wilms tumor|childhood renal Wilms tumor|nephroblastoma|Nonanaplastic renal Wilm's tumor|Wilms' tumor ordo_disease MONDO:0022647 cardiomelic syndrome stratton Koehler type biolink:Disease mondo GARD:0001099 http://purl.obolibrary.org/obo/MONDO_0022647 gard_rare MONDO:0022648 cardiomyopathy and deafness due to tRNA lysine gene mutation biolink:Disease mondo GTR:AN0103739|GTR:AN0103738|HGNC:7489|UMLS:CN036924|GARD:0001108 A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms. UMLS:CN036924 http://purl.obolibrary.org/obo/MONDO_0022648 cardiomyopathy and deafness due to MTTK gene mutation|cardiomyopathy and deafness due to tRNA lysine gene mutation gard_rare MONDO:0019007 vaginal atresia biolink:Disease mondo HP:0000148|MedDRA:10046879|Orphanet:65681|ICD10:Q52.0 MEDDRA:10046879|ORPHA:65681|UMLS:C1321884 http://purl.obolibrary.org/obo/MONDO_0019007 ordo_morphological_anomaly MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome biolink:Disease mondo UMLS:C4273714|ICD10:N04.8|Orphanet:656|ICD10:N04.3|UMLS:CN536255|ICD10:N04.1|SCTID:718141008|UMLS:C1868672 Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. UMLS:C4273714|SNOMEDCT:718141008|ORPHA:656|UMLS:C1868672|UMLS:CN536255 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic nephrotic syndrome ordo_disease HGNC:17358 TPK1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17358 MONDO:0019001 obsolete biotin-responsive basal ganglia disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019001 MONDO:0019000 perineural cyst biolink:Disease mondo SCTID:81634008|GARD:0009258|ICD10:G54.8|EFO:1001858|Orphanet:65250|MESH:D052958 Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy. ORPHA:65250|MESH:D052958|SNOMEDCT:81634008 http://purl.obolibrary.org/obo/MONDO_0019000 sacral perineural cysts|Tarlov cysts|perineural cysts|sacral neural cysts|sacral Tarlov cysts|Tarlov cyst ordo_disease MONDO:0019003 multiple endocrine neoplasia type 2 biolink:Disease mondo GARD:0003830|COHD:24612|Orphanet:653|UMLS:CN073359|NCIT:C123329|SCTID:61808009|UMLS:C4048306|ICD9:258.02|ICD9:194.8|MedDRA:10028191|ICD10:D44.8 Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). ORPHA:653|MEDDRA:10028191|UMLS:C4048306|NCIT:C123329|SNOMEDCT:61808009|UMLS:CN073359 http://purl.obolibrary.org/obo/MONDO_0019003 MEN2|multiple endocrine neoplasia type 2 ordo_disease|gard_rare MONDO:0019002 Lhermitte-Duclos disease biolink:Disease mondo ICDO:9493/0|ICD10:Q04.8|Orphanet:65285|UMLS:C0391826|NCIT:C8419|GARD:0006901 Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. NCIT:C8419|ORPHA:65285|UMLS:C0391826|UMLS:C1266181 http://purl.obolibrary.org/obo/MONDO_0019002 dysplastic cerebellar gangliocytoma|dysplastic gangliocytoma of cerebellum|LDD|dysplastic gangliocytoma of the cerebellum ordo_disease MONDO:0022642 childhood carcinoid tumor biolink:Disease mondo GARD:0009315|UMLS:C3899673|NCIT:C118810 A rare carcinoid tumor that occurs during childhood. NCIT:C118810|UMLS:C3899673 http://purl.obolibrary.org/obo/MONDO_0022642 carcinoid tumor childhood|carcinoid tumor (disease) of childhood|childhood carcinoid tumor|pediatric carcinoid tumor (disease)|childhood carcinoid tumor (disease)|pediatric carcinoid tumor (disease) gard_rare MONDO:0007009 ureterolithiasis biolink:Disease mondo SCTID:31054009|DOID:14146|ICD9:592.1|MESH:D053039|UMLS:C0041952|NCIT:C114696|COHD:201916|EFO:1001228 The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins. SNOMEDCT:31054009|DOID:14146|MESH:D053039|UMLS:C0041952|NCIT:C114696 http://purl.obolibrary.org/obo/MONDO_0007009 ureteric stone|calculus of ureter|ureteric calculus MONDO:0022643 carcinoma of the vocal tract biolink:Disease mondo GARD:0005996 A carcinoma that involves the laryngeal vocal fold. http://purl.obolibrary.org/obo/MONDO_0022643 carcinoma of laryngeal vocal fold|laryngeal vocal fold carcinoma gard_rare MONDO:0007007 Ureaplasma urethritis biolink:Disease mondo EFO:1001225|MESH:D016869|SCTID:51105006 Infections with bacteria of the genus ureaplasma. SNOMEDCT:51105006|MESH:D016869 http://purl.obolibrary.org/obo/MONDO_0007007 Ureaplasma disease or disorder|infection, Ureaplasma|infections, Ureaplasma|Ureaplasma infection|Ureaplasma infectious disease|Ureaplasma caused disease or disorder MONDO:0022644 cardiac hydatid cysts with intracavitary expansion biolink:Disease mondo GARD:0000199 http://purl.obolibrary.org/obo/MONDO_0022644 Cardiac hydatidosis gard_rare MONDO:0009669 spinal muscular atrophy, type 1 biolink:Disease mondo GARD:0007883|SCTID:64383006|Orphanet:83330|ICD9:335.0|ICD10:G12.0|ICD9:335.11|NCIT:C98670|DOID:13137|COHD:372616|DOID:0060160|OMIM:253300 Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. DOID:13137|SNOMEDCT:64383006|DOID:0060160|ORPHA:83330|http://identifiers.org/omim/253300|NCIT:C98670 http://purl.obolibrary.org/obo/MONDO_0009669 SMA type 1|SMA-I|survival motor neuron spinal muscular atrophy|spinal muscular atrophies of childhood|Sma, infantile acute form|progressive muscular atrophy of infancy|SMA1|infantile spinal muscular atrophy|severe infantile spinal muscular atrophy|spinal muscular atrophy, type I; SMA1|Werdnig-Hoffman disease|Werdnig-Hoffmann disease|proximal spinal muscular atrophy, type 1|SMA type I|Werdnig Hoffmann disease|Sma 1|HMN (hereditary motor neuropathy) proximal type I|muscular atrophy, infantile|proximal spinal muscular atrophy type 1|infantile muscular atrophy|spinal muscular atrophy, type I|hereditary motor neuropathy proximal type I|spinal muscular atrophy 1 ordo_clinical_subtype MONDO:0007008 uremia biolink:Disease mondo EFO:1001226|ICD10:N19|SCTID:44730006|MedDRA:10046369|MESH:D014511|DOID:4676|UMLS:C0041948 A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. MESH:D014511|SNOMEDCT:44730006|DOID:4676|UMLS:C0041948 http://purl.obolibrary.org/obo/MONDO_0007008 uremia of renal origin HP:0100584 Endocarditis biolink:PhenotypicFeature mondo SNOMEDCT_US:56819008|UMLS:C0014118|MSH:D004696 An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. http://purl.obolibrary.org/obo/HP_0100584 MONDO:0022645 cardioencephalomyopathy biolink:Disease mondo GARD:0010673 http://purl.obolibrary.org/obo/MONDO_0022645 gard_rare MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX biolink:Disease mondo OMIM:309541|Orphanet:369962|GARD:0013137|ICD10:E71.1|UMLS:C0796208|MESH:C563136 MESH:C563136|ORPHA:369962|http://identifiers.org/omim/309541|UMLS:C0796208 http://purl.obolibrary.org/obo/MONDO_0010657 methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type|methylmalonic aciduria with homocystinuria, type cblX|mental retardation, X-linked 3|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX|methylmalonic acidemia and homocysteinemia type cblX|intellectual disability, X-linked 3 ordo_clinical_subtype MONDO:0009668 lethal multiple pterygium syndrome biolink:Disease mondo OMIM:253290|GARD:0003834|UMLS:C1854678|ICD10:Q79.8|Orphanet:33108|SCTID:60192008|ICD9:759.89|NCIT:C101038 Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition. MESH:C537378|NCIT:C101038|UMLS:C1854678|http://identifiers.org/omim/253290|SNOMEDCT:60192008|ORPHA:33108 http://purl.obolibrary.org/obo/MONDO_0009668 autosomal recessive lethal multiple pterygium syndrome|lethal multiple pterygium syndrome|LMPS|pterygium syndrome multiple lethal type|pterygium syndrome, multiple, lethal type|multiple pterygium syndrome lethal type|multiple pterygium syndrome, lethal type|multiple pterygium syndrome, lethal type; LMPS ordo_malformation_syndrome|gard_rare MONDO:0007005 ulcerative proctosigmoiditis biolink:Disease mondo EFO:1001223|ICD9:556.3|SCTID:52506002 Inflammation of the rectum and the distal portion of the colon. SNOMEDCT:52506002 http://purl.obolibrary.org/obo/MONDO_0007005 MONDO:0010656 intellectual disability, X-linked 1 biolink:Disease mondo GARD:0013221|MESH:C567906|OMIM:309530|MESH:C564489|OMIM:300551|NCIT:C133729 An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities. MESH:C564489|http://identifiers.org/omim/309530|http://identifiers.org/omim/300551|NCIT:C133729|MESH:C567906 http://purl.obolibrary.org/obo/MONDO_0010656 mental retardation, X-linked 1; MRX1|mental retardation, X-linked type 1|MRX|MRX78|X-linked intellectual disability 1|mental retardation, X-linked 1|mental retardation, X-linked 18|IQSEC2-related epilepsy|mental retardation, X-linked 78|X-linked intellectual disability 78|MRX1|X-linked intellectual disability 1/78|IQSEC2-related intellectual disability|IQSEC2|mental retardation, X-linked 78; MRX78 MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 biolink:Disease mondo UMLS:C3151519|NCIT:C126740|OMIM:253280 An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. UMLS:C3151519|http://identifiers.org/omim/253280|NCIT:C126740 http://purl.obolibrary.org/obo/MONDO_0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3|MDDGA3|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; MDDGA3|Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related MONDO:0007006 ulnar neuropathy biolink:Disease mondo EFO:1001224|UMLS:C0154743|MESH:D020424|DOID:4613|SCTID:359837005 Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5) DOID:4613|UMLS:C0154743|MESH:D020424|SNOMEDCT:359837005 http://purl.obolibrary.org/obo/MONDO_0007006 mononeuropathy of ulnar nerve|ulnar neuropathy|ulnar nerve mononeuropathy|ulnar neuropathy (disorder) [ambiguous] MONDO:0009666 holocarboxylase synthetase deficiency biolink:Disease mondo DOID:859|Orphanet:79242|SCTID:360369003|NCIT:C98842|GARD:0002721|MESH:D028922|UMLS:C0268581|ICD10:E53.8|SCTID:15307001|ICD10:D81.818|ICD9:270.8|OMIM:253270 Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. SNOMEDCT:360369003|SNOMEDCT:15307001|DOID:859|ORPHA:79242|http://identifiers.org/omim/253270|NCIT:C98842|UMLS:C0268581|MESH:D028922 http://purl.obolibrary.org/obo/MONDO_0009666 neonatal multiple carboxylase deficiency|early-onset multiple carboxylase deficiency|HLCS deficiency|multiple carboxylase deficiency, early onset|multiple carboxylase deficiency|multiple carboxylase deficiency, neonatal form|holocarboxylase synthetase deficiency|multiple carboxylase deficiency - neonatal onset|biotin-(propionyl-CoA-carboxylase) ligase deficiency|holocarboxylase synthase deficiency gard_rare|ordo_disease MONDO:0010659 FRAXE intellectual disability biolink:Disease mondo GARD:0002378|Orphanet:100973|SCTID:716709002|UMLS:C0751157|OMIM:309548 FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR. http://identifiers.org/omim/309548|ORPHA:100973|SNOMEDCT:716709002|UMLS:C0751157 http://purl.obolibrary.org/obo/MONDO_0010659 fragile XE syndrome|FRAXE intellectual disability syndrome|FRAXE syndrome|fragile site, folic acid type|X-linked intellectual disability associated with fragile site FRAXE|mental retardation, X-linked, associated with fragile site FRAXE|X-linked mental retardation associated with fragile site FRAXE|intellectual disability associated with fragile site FRAXE|FRAXE mental retardation syndrome|intellectual disability, X-linked, associated with fragile site FRAXE gard_rare|ordo_disease HGNC:29304 UVSSA biolink:OntologyClass mondo http://identifiers.org/hgnc/29304 MONDO:0007003 obsolete twin-to-twin transfusion syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007003 MONDO:0009665 biotinidase deficiency biolink:Disease mondo UMLS:CN043572|SCTID:8808004|Orphanet:79241|DOID:856|NCIT:C84598|MedDRA:10071434|GARD:0000894|ICD10:E53.8|UMLS:C0220754|ICD9:277.6|MESH:D028921|ICD10:D81.810|OMIM:253260 Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. DOID:856|UMLS:CN043572|ORPHA:79241|http://identifiers.org/omim/253260|UMLS:C0220754|NCIT:C84598|MEDDRA:10071434|SNOMEDCT:8808004|MESH:D028921 http://purl.obolibrary.org/obo/MONDO_0009665 deficiency of biotinidase|late-onset multiple carboxylase deficiency|multiple carboxylase deficiency, juvenile-onset|biotin deficiency|biotinidase deficiency|BTD deficiency|BTD deficiency|juvenile-onset multiple carboxylase deficiency|multiple carboxylase deficiency, late-onset|late-onset biotin-responsive multiple carboxylase deficiency ordo_disease MONDO:0010658 syndromic X-linked intellectual disability 12 biolink:Disease mondo UMLS:C1839792|SCTID:719009006|OMIM:309545|Orphanet:85290|DOID:0060804|MESH:C564106|ICD10:Q87.8 X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome. UMLS:C1839792|MESH:C564106|DOID:0060804|SNOMEDCT:719009006|http://identifiers.org/omim/309545|ORPHA:85290 http://purl.obolibrary.org/obo/MONDO_0010658 X-linked intellectual disability, Wilson type|intellectual disability, X-linked, syndromic 12; MRXS12|mental retardation, X-linked, syndromic 12|mental retardation, X-linked, syndromic 12; MRXS12|MRXS12|syndromic X-linked intellectual disability type 12|intellectual disability, X-linked, syndromic 12 ordo_malformation_syndrome MONDO:0007004 type III hypersensitivity disease biolink:Disease mondo MESH:D007105|EFO:1001222|MedDRA:10045265|UMLS:C0020951|DOID:1557|NCIT:C114346 Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. MESH:D007105|NCIT:C114346|DOID:1557|UMLS:C0020951 http://purl.obolibrary.org/obo/MONDO_0007004 disorder of type III hypersensitivity|type III hypersensitivity reaction|disorder of type III hypersensitivity|hypersensitivity reaction type III disease|type 3 hypersensitivity reaction|immune complex disease|type III hypersensitivity MONDO:0007001 tricuspid valve prolapse (disease) biolink:Disease mondo HP:0001704|Orphanet:95458|UMLS:C0040962|ICD10:Q22.8|DOID:5644|MESH:D014263|SCTID:253383003|EFO:1001218|MedDRA:10066862 Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus. DOID:5644|ORPHA:95458|UMLS:C0040962|SNOMEDCT:253383003|MESH:D014263|MEDDRA:10066862 http://purl.obolibrary.org/obo/MONDO_0007001 tricuspid valve prolapse ordo_morphological_anomaly MONDO:0009664 mulibrey nanism biolink:Disease mondo SCTID:81604003|NCIT:C84906|ICD9:759.89|OMIM:253250|Orphanet:2576|GARD:0000095|MESH:D050336|UMLS:C2931895|ICD10:Q87.1|UMLS:C0524582|DOID:0050436 MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations. DOID:0050436|UMLS:C0524582|SNOMEDCT:81604003|http://identifiers.org/omim/253250|MESH:D050336|UMLS:C2931895|NCIT:C84906|MESH:C538604|ORPHA:2576 http://purl.obolibrary.org/obo/MONDO_0009664 pericardial constriction and growth failure|pericardial constriction and Growth failure|Perheentupa syndrome|mulibrey nanism|pericardial constriction-growth failure syndrome|mulibrey dwarfism|muscle-liver-brain-eye nanism ordo_malformation_syndrome|gard_rare MONDO:0007002 trochlear nerve disease biolink:Disease mondo ICD10:H49.1|ICD9:378.53|MESH:D020432|NCIT:C78395|EFO:1001220|DOID:13864|MedDRA:10074765 A disease involving the trochlear nerve. DOID:13864|MESH:D020432|NCIT:C78395 http://purl.obolibrary.org/obo/MONDO_0007002 trochlear nerve disorder, NOS|trochlear nerve disease or disorder|IVth nerve disorder|superior oblique muscle innervation disorder|IVth cranial nerve disorder|disorder of trochlear nerve|trochlear nerve disease|disorder of trochlear nerve|disease or disorder of trochlear nerve|trochlear nerve disorder|disease of trochlear nerve MONDO:0009663 mucus inspissation of respiratory tract biolink:Disease mondo OMIM:253240|UMLS:C1854729|MESH:C565366 MESH:C565366|UMLS:C1854729|http://identifiers.org/omim/253240 http://purl.obolibrary.org/obo/MONDO_0009663 mucus inspissation of respiratory tract MONDO:0009662 mucopolysaccharidosis type 7 biolink:Disease mondo DOID:12803|SCTID:43916004|Orphanet:584|ICD10:E76.29|GARD:0007096|MESH:D016538|UMLS:C0085132|OMIM:253220|NCIT:C84903|MedDRA:10056893|ICD10:E76.2 Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. ORPHA:584|SNOMEDCT:43916004|http://identifiers.org/omim/253220|DOID:12803|MEDDRA:10056893|MESH:D016538|NCIT:C84903|UMLS:C0085132 http://purl.obolibrary.org/obo/MONDO_0009662 MPS7|Sly disease|mucopolysaccharidosis type VII|Gus deficiency|mucopolysaccharidosis, type 7|MPS7|MPSVII|MPS 7|Sly syndrome|MPS VII|MPS VII - Sly syndrome|deficiency of beta-glucuronidase|beta-glucuronidase deficiency|mucopolysaccharidosis, type VII; MPS7|MPS VII - mucopolysaccharidosis VII|gusb deficiency|mucopolysaccharidosis, type VII|mucopolysaccharidosis VII|mucopolysaccharidosis, mps-VII|Gusb deficiency|Beta-glucuronidase deficiency ordo_disease HGNC:29300 KANK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29300 MONDO:0009661 mucopolysaccharidosis type 6 biolink:Disease mondo Orphanet:583|DOID:12800|GARD:0007095|MESH:D009087|UMLS:C0026709|NCIT:C61264|OMIM:253200|ICD10:E76.2|SCTID:69463008|MedDRA:10056892 Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. ORPHA:583|NCIT:C61264|http://identifiers.org/omim/253200|SNOMEDCT:69463008|DOID:12800|MEDDRA:10056892|MESH:D009087|UMLS:C0026709 http://purl.obolibrary.org/obo/MONDO_0009661 ARSB deficiency|Maroteaux - Lamy syndrome|ASB deficiency|Maroteaux-Lamy disease|arylsulfatase B deficiency|Arsb deficiency|mucopolysaccharidosis type VI; MPS6|MPSVI|mucopolysaccharidosis type VI|MPS VI|mucopolysaccharidosis VI|MPS 6|deficiency of N-acetylgalactosamine-4-sulfatase|Maroteaux Lamy syndrome|MPS6|Mucopoly-saccharidosis type VI|N-acetylgalactosamine 4-sulfatase deficiency|MPS VI - Maroteaux-Lamy syndrome|N-acetylgalactosamine-4-sulfatase deficiency|Maroteaux-Lamy syndrome ordo_disease MONDO:0007000 Treponema infectious disease biolink:Disease mondo MESH:D014211|GARD:0007798|EFO:1001217|NCIT:C85197 An disease caused by infection with Treponema. NCIT:C85197|MESH:D014211 http://purl.obolibrary.org/obo/MONDO_0007000 bejel|Treponema disease or disorder|infection, Treponemal|infections, Treponemal|Bejels|Treponemal infection|Treponema caused disease or disorder GO:0042582 azurophil granule biolink:OntologyClass mondo Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. http://purl.obolibrary.org/obo/GO_0042582 primary granule MONDO:0009660 mucopolysaccharidosis type 4B biolink:Disease mondo GARD:0003786|UMLS:C0086652|Orphanet:309310|SCTID:238044004|ICD10:E76.2|OMIM:253010|NCIT:C84902 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. http://identifiers.org/omim/253010|ORPHA:309310|NCIT:C84902|UMLS:C0086652|SNOMEDCT:238044004 http://purl.obolibrary.org/obo/MONDO_0009660 Morquio disease type B|MPS IVB|MPS IV B|MPS 4B|mucopolysaccharidosis, type IVB; MPS4B|MPSIVB|Beta-D-galactosidase deficiency|Morquio syndrome B|mucopolysaccharidosis type IVB|mucopolysaccharidosis, type 4B|MPS4B ordo_clinical_subtype MONDO:0010660 intellectual disability, X-linked 9 biolink:Disease mondo MESH:C563137|OMIM:309549|UMLS:C0796215 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene. http://identifiers.org/omim/309549|UMLS:C0796215|MESH:C563137 http://purl.obolibrary.org/obo/MONDO_0010660 intellectual disability, X-linked 9|intellectual disability, X-linked type 9|mental retardation, X-linked 9|mental retardation, X-linked 9; MRX9|mental retardation, X-linked 44|non-syndromic X-linked intellectual disability caused by mutation in FTSJ1|MRX9|FTSJ1 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 9|intellectual disability, X-linked 44|intellectual disability, X-linked 9; MRX9 MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome biolink:Disease mondo Orphanet:2824|UMLS:C2745996|ICD10:G82.1|GARD:0002344|OMIM:309560|MESH:C537058 Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. http://identifiers.org/omim/309560|UMLS:C2745996|MESH:C537058|ORPHA:2824 http://purl.obolibrary.org/obo/MONDO_0010662 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis|Fitzsimmons-McLachlan-Gilbert syndrome|intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis ordo_malformation_syndrome MONDO:0010661 severe X-linked intellectual disability, Gustavson type biolink:Disease mondo UMLS:C0795965|MESH:C536759|ICD10:F72.9|OMIM:309555|GARD:0005611|SCTID:722213009|Orphanet:3078 Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood. ORPHA:3078|http://identifiers.org/omim/309555|UMLS:C0795965|SNOMEDCT:722213009|MESH:C536759 http://purl.obolibrary.org/obo/MONDO_0010661 X-linked mental retardation Gustavson type|gust|mental retardation X-linked severe Gustavson type|intellectual disability X-linked severe Gustavson type|intellectual disability with optic atrophy, deafness, and seizures|Gustavson syndrome|mental retardation with optic atrophy, deafness, and seizures|X-linked intellectual disability Gustavson type ordo_malformation_syndrome RO:0002506 causal relation between entities biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002506 MONDO:0010664 syndromic X-linked intellectual disability Snyder type biolink:Disease mondo ICD9:758.89|SCTID:702416008|DOID:0060802|UMLS:C0796160|Orphanet:3063|OMIM:309583|MESH:C536678|ICD10:Q87.8|GARD:0005615 Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed. DOID:0060802|ORPHA:3063|http://identifiers.org/omim/309583|UMLS:C0796160|SNOMEDCT:702416008|MESH:C536678 http://purl.obolibrary.org/obo/MONDO_0010664 X-linked intellectual disability, Snyder type|mental retardation, X-linked, syndromic, Snyder-Robinson type|SRS|X-linked mental retardation Snyder-Robinson type|Snyder-Robinson syndrome|spermine synthase deficiency|X-linked intellectual disability Snyder-Robinson type|mental retardation, X-linked, Snyder-Robinson type|intellectual disability, X-linked, syndromic, Snyder-Robinson type|Snyder-Robinson mental retardation syndrome|mental retardation, X-linked, syndromic, Snyder-Robinson type; MRXSSR|intellectual disability, X-linked, Snyder-Robinson type|Snyder-Robinson intellectual disability syndrome|intellectual disability, X-linked, syndromic, Snyder-Robinson type; MRXSSR|MRXSSR ordo_disease GO:0042589 zymogen granule membrane biolink:OntologyClass mondo The lipid bilayer surrounding a zymogen granule. http://purl.obolibrary.org/obo/GO_0042589 HGNC:17328 DTNBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17328 MONDO:0010663 X-linked intellectual disability-hypotonic face syndrome biolink:Disease mondo GARD:0000081|Orphanet:73220|OMIM:309580|UMLS:CN205653 Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features. UMLS:CN205653|http://identifiers.org/omim/309580|ORPHA:73220 http://purl.obolibrary.org/obo/MONDO_0010663 X-linked hypogonadism gynecomastia mental retardation|mental retardation-hypotonic facies syndrome, X-linked, type 1|intellectual disability-hypotonic facies syndrome, X-linked, 1; MRXHF1|intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism|Carpenter-Waziri syndrome|X-linked hypogonadism gynecomastia intellectual disability|mental retardation-hypotonic facies syndrome, X-linked, 1; MRXHF1|mental retardation, X-linked, with growth retardation, deafness, and microgenitalism|Smith-Fineman-Myers syndrome 1|Juberg Marsidi syndrome|Juberg-Marsidi mental retardation syndrome|Juberg-Marsidi syndrome|JMS|XLMR-hypotonic facies syndrome|mental Retradation, X-linked with Growth delay, deafness, Microgenitalism|sfms|MRXHF1|mental retardation-hypotonic facies syndrome, X-linked, 1|intellectual disability-hypotonic facies syndrome, X-linked, 1|Chudley-Lowry syndrome|intellectual disability-hypotonic facies syndrome, X-linked, type 1|Holmes-Gang syndrome ordo_group_of_disorders|gard_rare GO:0042588 zymogen granule biolink:OntologyClass mondo A membrane-bounded, cytoplasmic secretory granule found in enzyme-secreting cells and visible by light microscopy. Contain zymogen, an inactive enzyme precursor, often of a digestive enzyme. http://purl.obolibrary.org/obo/GO_0042588 RO:0002500 causal agent in process biolink:OntologyClass mondo A relationship between a material entity and a process where the material entity has some causal role that influences the process http://purl.obolibrary.org/obo/RO_0002500 HGNC:17327 WAC biolink:OntologyClass mondo http://identifiers.org/hgnc/17327 MONDO:0010666 obsolete Miles-Carpenter syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010666 RO:0002501 causal relation between processes biolink:OntologyClass mondo p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q. http://purl.obolibrary.org/obo/RO_0002501 MONDO:0010665 Wilson-Turner syndrome biolink:Disease mondo SCTID:719834005|OMIM:309585|MESH:C536708|DOID:0060814|Orphanet:3459|GARD:0005579 Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. DOID:0060814|http://identifiers.org/omim/309585|ORPHA:3459|SNOMEDCT:719834005|MESH:C536708 http://purl.obolibrary.org/obo/MONDO_0010665 Wilson-TURNER X-linked intellectual disability syndrome; WTS|intellectual disability, X-linked, syndromic 6 (formerly)|mental retardation, X-linked, with gynecomastia and obesity|Wilson Turner intellectual disability syndrome (formerly)|Wilson Turner mental retardation syndrome (formerly)|intellectual disability, X-linked, with gynecomastia and obesity|intellectual disability, X-linked, syndromic 6|Wilson-TURNER X-linked mental retardation syndrome|Wilson-TURNER X-linked mental retardation syndrome; WTS|mental retardation, X-linked, with gynecomastia and obesity (formerly)|WTS|Wilson-TURNER X-linked intellectual disability syndrome|X-linked intellectual disability - gynecomastia - obesity|intellectual disability, X-linked, with gynecomastia and obesity (formerly)|mental retardation, X-linked, syndromic 6 (formerly)|MRXS6|X-linked intellectual disability-gynecomastia-obesity syndrome|mental retardation, X-linked, syndromic 6 ordo_malformation_syndrome|gard_rare RO:0002502 depends on biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0002502 MONDO:0022636 candida glabrata biolink:Disease mondo GARD:0008171 http://purl.obolibrary.org/obo/MONDO_0022636 Torulopsis glabrata (formerly) gard_rare HGNC:19986 CYCS biolink:OntologyClass mondo http://identifiers.org/hgnc/19986 MONDO:0022639 Cantu sanchez-corona Garcia-Cruz syndrome biolink:Disease mondo GARD:0001082 http://purl.obolibrary.org/obo/MONDO_0022639 gard_rare RO:0002507 determined by biolink:OntologyClass mondo s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. http://purl.obolibrary.org/obo/RO_0002507 RO:0002508 determines biolink:OntologyClass mondo inverse of determined by http://purl.obolibrary.org/obo/RO_0002508 RO:0002509 determined by part of biolink:OntologyClass mondo s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. http://purl.obolibrary.org/obo/RO_0002509 HGNC:17321 SP7 biolink:OntologyClass mondo http://identifiers.org/hgnc/17321 HP:0100598 Pulmonary edema biolink:PhenotypicFeature mondo UMLS:C0034063|SNOMEDCT_US:19242006|MSH:D011654 Fluid accumulation in the lungs. http://purl.obolibrary.org/obo/HP_0100598 Pulmonary oedema|Wet lung|Excess fluid in lungs|Lung edema MONDO:0022633 camptodactyly joint contractures and facial skeletal dysplasia biolink:Disease mondo MESH:C537969 MESH:C537969 http://purl.obolibrary.org/obo/MONDO_0022633 MONDO:0007018 vulvitis biolink:Disease mondo DOID:3901|MESH:D014847|SCTID:63144007|ICD10:N76.2|EFO:1001239|UMLS:C0042996|MedDRA:10047780 Inflammation of the vulva. It is characterized by pruritus and painful urination. MESH:D014847|SNOMEDCT:63144007|UMLS:C0042996|DOID:3901 http://purl.obolibrary.org/obo/MONDO_0007018 mammalian vulva inflammation|inflammation of mammalian vulva MONDO:0007019 vulvovaginitis biolink:Disease mondo MESH:D014848|MedDRA:10047794|ICD10:N76.0|UMLS:C0042998|COHD:4180978|EFO:1001240|DOID:2273|SCTID:53277000|NCIT:C35131 An inflammatory pathologic process that affects the vulva and the vagina. NCIT:C35131|MESH:D014848|UMLS:C0042998|DOID:2273|SNOMEDCT:53277000 http://purl.obolibrary.org/obo/MONDO_0007019 Vulvo-vaginitis MONDO:0022634 camptodactyly vertebral fusion biolink:Disease mondo MESH:C537973|UMLS:C2931682|GARD:0001070 UMLS:C2931682|MESH:C537973 http://purl.obolibrary.org/obo/MONDO_0022634 camptodactyly and sacral vertebral fusion|camptodactyly and sacral vertebral fusion (subtype) gard_rare MONDO:0007016 vitamin A deficiency (disease) biolink:Disease mondo MESH:D014802|HP:0004905|UMLS:C0042842|ICD9:264.9|SCTID:72000004|NCIT:C85220|ICD9:264|MedDRA:10047586|ICD9:264.8|EFO:1001237 Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia. MESH:D014802|UMLS:C0042842|SNOMEDCT:72000004|NCIT:C85220 http://purl.obolibrary.org/obo/MONDO_0007016 vitamin A deficiency|deficiencies, vitamin A|deficiency, vitamin A|vitamin A deficiencies MONDO:0009679 arthrogryposis due to muscular dystrophy biolink:Disease mondo Orphanet:1155|OMIM:253900|DOID:0110631|ICD10:M62.8|GARD:0000779|UMLS:C1850865|MESH:C564985 DOID:0110631|MESH:C564985|http://identifiers.org/omim/253900|UMLS:C1850865|ORPHA:1155 http://purl.obolibrary.org/obo/MONDO_0009679 congenital muscular dystrophy producing arthrogryposis|muscular dystrophy, congenital, producing arthrogryposis gard_rare|ordo_disease MONDO:0010646 macular dystrophy, X-linked biolink:Disease mondo MESH:C564110|UMLS:C1839842|OMIM:309100 UMLS:C1839842|MESH:C564110|http://identifiers.org/omim/309100 http://purl.obolibrary.org/obo/MONDO_0010646 macular dystrophy, X-linked MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 biolink:Disease mondo Orphanet:272|ICD10:G71.0|SCTID:111502003|UMLS:C0410174|DOID:0050559|OMIM:253800|NCIT:C126741 Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. ORPHA:272|DOID:0050559|SNOMEDCT:111502003|NCIT:C126741|http://identifiers.org/omim/253800|UMLS:C0410174 http://purl.obolibrary.org/obo/MONDO_0009678 Fukuyama congenital muscular dystrophy|MDDGA4|congenital muscular dystrophy, Fukuyama type|FCMD|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; MDDGA4|muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4|Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related ordo_disease MONDO:0010645 oculocerebrorenal syndrome biolink:Disease mondo NCIT:C84940|DOID:1056|ICD10:E72.0|SCTID:79385002|OMIM:309000|UMLS:C0028860|MESH:D009800|ICD9:270.8|GARD:0003295|MedDRA:10051707|Orphanet:534|ICD10:E72.03 Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. MEDDRA:10051707|DOID:1056|http://identifiers.org/omim/309000|SNOMEDCT:79385002|NCIT:C84940|UMLS:C0028860|MESH:D009800|ORPHA:534 http://purl.obolibrary.org/obo/MONDO_0010645 oculocerebrorenal syndrome of Lowe|Lowe syndrome|Lowe oculocerebrorenal syndrome|oculocerebrorenal dystrophy|Lowe disease|Lowe oculocerebrorenal syndrome|OCR|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal syndrome|Lowe oculo-cerebro-renal syndrome|Lowe oculocerebrorenal syndrome; OCRL|Ocrl1|OCRL ordo_malformation_syndrome MONDO:0007017 vitreous detachment biolink:Disease mondo NCIT:C50807|MESH:D020255|ICD10:H43.81|DOID:9726|UMLS:C0042907|MedDRA:10047650|EFO:1001238|SCTID:53772007 Detachment of the vitreous humor from the retina. UMLS:C0042907|NCIT:C50807|SNOMEDCT:53772007|DOID:9726|MESH:D020255 http://purl.obolibrary.org/obo/MONDO_0007017 vitreous, detachment Of|detachment Of vitreous MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C biolink:Disease mondo GARD:0002429|UMLS:C0410173|OMIM:253700|DOID:0110277|MESH:C535900|ICD10:G71.0|Orphanet:353 Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. ORPHA:353|DOID:0110277|MESH:C535900|http://identifiers.org/omim/253700|UMLS:C0410173 http://purl.obolibrary.org/obo/MONDO_0009677 sarcoglycan, gamma, deficiency of|SCARMD|limb-girdle muscular dystrophy, type 2C|autosomal recessive Duchenne-like muscular dystrophy type 1|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|muscular dystrophy, Duchenne-like|Adhalin deficiency, secondary|SGCG autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2C|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG|Maghrebian myopathy|Duchenne-like muscular dystrophy, autosomal recessive, type 1|gamma-sarcoglycanopathy|severe childhood autosomal recessive muscular dystrophy, North African type|limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency|deficiency of sarcoglycan gamma|Dmda|muscular dystrophy, limb-girdle, type 2C; LGMD2C|severe childhood autosomal recessive muscular dystrophy North African type|DMDA1|LGMD2C ordo_disease MONDO:0010648 major affective disorder 2 biolink:Disease mondo DOID:0080221|OMIM:309200|MESH:C564108 MESH:C564108|http://identifiers.org/omim/309200|DOID:0080221 http://purl.obolibrary.org/obo/MONDO_0010648 manic-depressive illness|manic-depressive psychosis, X-linked|bipolar affective disorder|major affective disorder 2|MAJOR affective disorder 2; MAFD2|MAFD2 MONDO:0007014 vibrio infectious disease biolink:Disease mondo MESH:D014735|UMLS:C0042636|EFO:1001235 Infections with bacteria of the genus vibrio. UMLS:C0042636|MESH:D014735 http://purl.obolibrary.org/obo/MONDO_0007014 Vibrio infectious disease|vibrio infectious disease|Vibrio caused disease or disorder|Vibrio disease or disorder MONDO:0007015 viral meningitis biolink:Disease mondo DOID:10310|MedDRA:10047469|COHD:433403|MESH:D008587|ICD9:047.8|NCIT:C118298|ICD10:A87.9|ICD9:321.2|ICD9:047.9|ICD10:A87|SCTID:58170007|UMLS:C0025297|EFO:1001236 Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. UMLS:C0025297|MESH:D008587|DOID:10310|SNOMEDCT:58170007|NCIT:C118298 http://purl.obolibrary.org/obo/MONDO_0007015 MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B biolink:Disease mondo SCTID:718179003|NCIT:C142080|ICD10:G71.0|DOID:0110276|OMIM:253601|Orphanet:268|GARD:0008574|MESH:C535899 Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. SNOMEDCT:718179003|DOID:0110276|NCIT:C142080|MESH:C535899|http://identifiers.org/omim/253601|ORPHA:268 http://purl.obolibrary.org/obo/MONDO_0009676 limb-girdle muscular dystrophy, type 2B|limb-girdle muscular dystrophy type 3|limb-girdle muscular dystrophy type 2B|DYSF autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF|LGMD3|muscular dystrophy, limb-girdle, type 3|muscular dystrophy, limb-girdle, type 2B|LGMD2B|limb-girdle muscular dystrophy due to dysferlin deficiency|muscular dystrophy, limb-girdle, type 2B; LGMD2B ordo_disease MONDO:0010647 spermatogenic failure, X-linked, 2 biolink:Disease mondo DOID:0070185|UMLS:C1839841|OMIM:309120 Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene. UMLS:C1839841|http://identifiers.org/omim/309120|DOID:0070185 http://purl.obolibrary.org/obo/MONDO_0010647 spermatogenic failure, X-linked, 2; SPGFX2|Male infertility from defect in meiosis|spermatogenic failure, X-linked, type 2|TEX11 azoospermia|spermatogenic failure, X-linked, 2|SPGFX2|azoospermia caused by mutation in TEX11 HGNC:29316 ZSWIM6 biolink:OntologyClass mondo http://identifiers.org/hgnc/29316 MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A biolink:Disease mondo SCTID:715341003|MESH:C535895|GARD:0001057|Orphanet:267|NCIT:C142079|DOID:0110275|OMIM:253600|ICD10:G71.0|GARD:0003845 Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. DOID:0110275|NCIT:C142079|MESH:C535895|http://identifiers.org/omim/253600|SNOMEDCT:715341003|UMLS:C1869123|ORPHA:267 http://purl.obolibrary.org/obo/MONDO_0009675 muscular dystrophy, limb-girdle, type 2A; LGMD2A|limb-girdle muscular dystrophy type 2|myositis, eosinophilic|calpainopathy|muscular dystrophy, Pelvofemoral|muscular dystrophy limb girdle type 2A, erb type|Leyden-Moebius muscular dystrophy|limb-girdle muscular dystrophy due to calpain deficiency|muscular dystrophy, limb-girdle, type 2A|CAPN3 autosomal recessive limb-girdle muscular dystrophy|LGMD2|pelvofemoral muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3|LGMD2A|muscular dystrophy, limb-girdle, type 2|primary calpainopathy|limb-girdle muscular dystrophy type 2A ordo_disease MONDO:0007012 variant Creutzfeldt-Jakob disease biolink:Disease mondo EFO:1001233|SCTID:304603007|ICD9:046.11|Orphanet:576370|NCIT:C128438|ICD10:A81.01|UMLS:C0085209|DOID:5435|GARD:0009550|MONDO:0005409|MedDRA:10064199 A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. NCIT:C128438|ORPHA:576370|SNOMEDCT:304603007|UMLS:C0085209|DOID:5435 http://purl.obolibrary.org/obo/MONDO_0007012 vCJD ordo_disease GO:0042592 homeostatic process biolink:OntologyClass mondo Any biological process involved in the maintenance of an internal steady state. http://purl.obolibrary.org/obo/GO_0042592 positive regulation of homeostatic process|homeostasis|negative regulation of homeostatic process|inhibition of homeostatic process|regulation of homeostatic process|activation of homeostatic process MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy biolink:Disease mondo OMIM:253590|UMLS:C1854646|MESH:C565361 MESH:C565361|UMLS:C1854646|http://identifiers.org/omim/253590 http://purl.obolibrary.org/obo/MONDO_0009674 muscular dystrophy, adult-onset, with leukoencephalopathy MONDO:0007013 vasculogenic impotence biolink:Disease mondo EFO:1001234|MESH:D018783|UMLS:C0243000|DOID:4762 Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both. DOID:4762|MESH:D018783|UMLS:C0243000 http://purl.obolibrary.org/obo/MONDO_0007013 MONDO:0010649 isolated congenital megalocornea biolink:Disease mondo GARD:0012648|ICD10:Q15.8|OMIM:309300|SCTID:734026006|Orphanet:91489 Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. http://identifiers.org/omim/309300|SNOMEDCT:734026006|ORPHA:91489 http://purl.obolibrary.org/obo/MONDO_0010649 MGC1|congenital anterior megalophthalmia|megalocornea; MGC1|Mgcn|megalocornea ordo_morphological_anomaly MONDO:0009673 spinal muscular atrophy, type II biolink:Disease mondo Orphanet:83418|DOID:0050530|GARD:0004945|ICD9:335.19|ICD10:G12.1|OMIM:253550|SCTID:128212001|MESH:C536879 Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. DOID:0050530|MESH:C536879|SNOMEDCT:128212001|ORPHA:83418|http://identifiers.org/omim/253550 http://purl.obolibrary.org/obo/MONDO_0009673 SMA2|chronic spinal muscular atrophy|spinal muscular atrophy type II|Sma 2|SMA II|proximal spinal muscular atrophy type 2|muscular atrophy, spinal, infantile chronic form|spinal muscular atrophy type 2|SMA-II|chronic infantile spinal muscular atrophy|muscular atrophy, spinal, intermediate type|SMA type 2|spinal muscular atrophy, type 2|Dubowitz disease|spinal muscular atrophy, type II; SMA2|SMA type II|Intermediate spinal muscular atrophy|muscular atrophy, spinal, Intermediate type ordo_clinical_subtype MONDO:0007010 obsolete uveitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007010 MONDO:0009672 spinal muscular atrophy, type III biolink:Disease mondo UMLS:C0152109|ICD9:335.11|GARD:0000198|UMLS:C0700595|DOID:12376|ICD10:G12.1|COHD:374634|NCIT:C118847|OMIM:253400|Orphanet:83419|SCTID:54280009 Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. ORPHA:83419|DOID:12376|http://identifiers.org/omim/253400|UMLS:C0152109|UMLS:C0700595|NCIT:C118847|SNOMEDCT:54280009 http://purl.obolibrary.org/obo/MONDO_0009672 proximal spinal muscular atrophy type 3|KWS|spinal muscular atrophy, type III; SMA3|type III spinal muscular atrophy|childhood spinal muscular atrophy|Sma 3|SMA type 3|Kugelberg-Welander disease|SMA-III|spinal muscular atrophy, type 3|SMA3|Kugelberg-Welander syndrome|juvenile spinal muscular atrophy|SMA 3|spinal muscular atrophy, mild childhood and adolescent form|spinal muscular atrophy of childhood|spinal muscular atrophy III|pediatric spinal muscular atrophy|pediatric spinal muscular atrophy|SMA type III|spinal muscular atrophy, familial|spinal muscular atrophy type 3|muscular atrophy, juvenile ordo_clinical_subtype|gard_rare MONDO:0007011 uveoparotid fever biolink:Disease mondo EFO:1001232|ICD10:D86.89|SCTID:4416007|MESH:D014608|DOID:13404|UMLS:C0042171 A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea. DOID:13404|SNOMEDCT:4416007|MESH:D014608|UMLS:C0042171 http://purl.obolibrary.org/obo/MONDO_0007011 uveoparotid fever|Heerfordt's syndrome GO:0042593 glucose homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/GO_0042593 MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome biolink:Disease mondo GARD:0001358|OMIM:253320|SCTID:764959000|UMLS:C1854663|Orphanet:3068|MESH:C535458|ICD10:Q87.8 Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. MESH:C535458|UMLS:C1854663|http://identifiers.org/omim/253320|SNOMEDCT:764959000|ORPHA:3068 http://purl.obolibrary.org/obo/MONDO_0009671 Chudley-Rozdilsky syndrome|Chudley syndrome|Chudley Rozdilsky syndrome|multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism|multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism ordo_disease MONDO:0009670 lethal congenital contracture syndrome 1 biolink:Disease mondo GARD:0003227|SCTID:715418007|DOID:0060559|UMLS:C1854664|OMIM:253310|MESH:C537194|ICD10:Q68.8|Orphanet:1486 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. SNOMEDCT:715418007|UMLS:C1854664|DOID:0060559|http://identifiers.org/omim/253310|MESH:C537194|ORPHA:1486 http://purl.obolibrary.org/obo/MONDO_0009670 Lccs|GLE1 lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in GLE1|lethal congenital contracture syndrome type 1|Herva disease|lethal congenital contracture syndrome 1; LCCS1|LCCS1|lethal congenital contracture syndrome 1|lethal autosomal recessive syndrome of multiple congenital contractures|multiple contracture syndrome, Finnish type ordo_malformation_syndrome MONDO:0010651 Menkes disease biolink:Disease mondo Orphanet:565|OMIM:309400|DOID:1838|ICD9:759.89|MedDRA:10027294|MESH:D007706|UMLS:C0022716|NCIT:C75486|ICD10:E83.0|GARD:0001521|SCTID:59178007 Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. MEDDRA:10027294|UMLS:C0022716|DOID:1838|http://identifiers.org/omim/309400|SNOMEDCT:59178007|ORPHA:565|NCIT:C75486|MESH:D007706 http://purl.obolibrary.org/obo/MONDO_0010651 Trichopoliodystrophy|steely hair disease|Menkea syndrome|Mk|Menkes kinky hair syndrome|MNK|Menkes kinky-hair syndrome|MD|kinky hair disease|Menkes disease|X-linked copper deficiency|Menkes syndrome|steely hair syndrome|copper transport disease|kinky hair syndrome ordo_disease|gard_rare MONDO:0010650 Melnick-Needles syndrome biolink:Disease mondo OMIM:309350|MedDRA:10060908|UMLS:C0025237|GARD:0007011|SCTID:13449007|ICD10:Q77.8|Orphanet:2484|ICD9:756.59 Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. http://identifiers.org/omim/309350|MEDDRA:10060908|ORPHA:2484|UMLS:C0025237|SNOMEDCT:13449007 http://purl.obolibrary.org/obo/MONDO_0010650 osteodysplasty of Melnick and Needles|Melnick-Needles syndrome|Melnick-Needles osteodysplasty|MNS|MELNICK-NEEDLES syndrome; MNS gard_rare|ordo_malformation_syndrome MONDO:0010653 Renpenning syndrome biolink:Disease mondo UMLS:C0796135|Orphanet:3242|ICD9:759.89|MESH:C537761|OMIM:309500|ICD10:Q87.5|DOID:0060179|GARD:0009509|SCTID:699669001 Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature. DOID:0060179|SNOMEDCT:699669001|http://identifiers.org/omim/309500|UMLS:C0796135|ORPHA:3242|MESH:C537761 http://purl.obolibrary.org/obo/MONDO_0010653 intellectual disability, X-linked Renpenning type|mental retardation, X-linked 55|RENS1|Sutherland-Haan X-linked intellectual disability syndrome|intellectual disability, X-linked, syndromic 3|X-linked intellectual disability, Renpenning type|X-linked intellectual disability due to PQBP1 mutations|mental retardation, X-linked, syndromic 3|X-linked mental retardation Renpenning type|Renpenning syndrome 1|X-linked mental retardation with spastic diplegia|mental retardation, X-linked Renpenning type|syndromic X-linked mental retardation 8|Sutherland-Haan X-linked mental retardation syndrome|Golabi-Ito-Hall syndrome|MRXS8|Sutherland-Haan syndrome|intellectual disability, X-linked, Renpenning type|syndromic X-linked intellectual disability 8|X-linked intellectual disability syndromic 3|Renpenning syndrome 1; RENS1|Renpenning syndrome type 1|intellectual disability, X-linked, syndromic 8|intellectual disability, X-linked, with spastic diplegia|mental retardation, X-linked, Renpenning type|MRXS3|X-linked mental retardation syndromic 3|X-linked intellectual disability Renpenning type|mental retardation, X-linked, with spastic diplegia|intellectual disability, X-linked 55|mental retardation, X-linked, syndromic 8|X-linked intellectual disability with spastic diplegia ordo_malformation_syndrome MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome biolink:Disease mondo GARD:0005238|SCTID:719810000|OMIM:309480|ICD10:Q87.8|MESH:C536978|Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive. ORPHA:3052|http://identifiers.org/omim/309480|SNOMEDCT:719810000|MESH:C536978 http://purl.obolibrary.org/obo/MONDO_0010652 mental retardation X-linked, Tranebjaerg type seizures and psoriasis|X-linked mental retardation associated with psoriasis|intellectual disability X-linked, Tranebjaerg type seizures and psoriasis|Tranebjaerg-Svejgaard syndrome|intellectual disability and psoriasis|mental retardation and psoriasis|X-linked intellectual disability associated with psoriasis|Tranebjaerg Svejgaard syndrome|X-linked intellectual disability - seizures - psoriasis ordo_disease MONDO:0010655 X-linked intellectual disability with marfanoid habitus biolink:Disease mondo SCTID:422437002|OMIM:309520|MESH:C537724|GARD:0003307|ICD10:Q87.8|Orphanet:776 The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. SNOMEDCT:422437002|http://identifiers.org/omim/309520|UMLS:C0796022|MESH:C537724|ORPHA:776 http://purl.obolibrary.org/obo/MONDO_0010655 Lujan-Fryns syndrome|intellectual disability, X-linked, with Marfanoid habitus|Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies|LUJAN-Fryns syndrome|mental retardation, X-linked, with Marfanoid habitus|Lujan syndrome ordo_malformation_syndrome MONDO:0010654 Partington syndrome biolink:Disease mondo DOID:14744|OMIM:309510|GARD:0004235|Orphanet:94083 A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person. ORPHA:94083|http://identifiers.org/omim/309510|DOID:14744 http://purl.obolibrary.org/obo/MONDO_0010654 intellectual disability-dystonic movements-ataxia-seizures syndrome|X-linked Russell-Silver syndrome|MRXS1|intellectual disability, X-linked, syndromic 1|mental retardation, X-linked, syndromic 1|intellectual disability, X-linked, with dystonic movements, ataxia, and seizures|Partington X-linked mental retardation syndrome|mental retardation, X-linked, with dystonic movements, ataxia, and seizures|intellectual disability, X-linked 36|Partington X-linked intellectual disability syndrome|PRTS|X-linked intellectual disability-dystonia-dysarthria syndrome|Partington-Mulley syndrome|Partington syndrome|Partington X-linked intellectual disability syndrome; PRTS|mental retardation, X-linked 36|Partington X-linked mental retardation syndrome; PRTS ordo_malformation_syndrome HGNC:32952 SNORD118 biolink:OntologyClass mondo http://identifiers.org/hgnc/32952 UBERON:0018543 lumen of intestine biolink:AnatomicalEntity mondo The anatomical space within the intestine. http://purl.obolibrary.org/obo/UBERON_0018543 gut lumen|intestine lumen|intestinal lumen NCBITaxon:6318 Trichostrongylus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6318 NCBITaxon:6315 Trichostrongylidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6315 NCBITaxon:6314 Trichostrongyloidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6314 HGNC:29401 MYSM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29401 UBERON:0018544 trigeminal nerve muscle biolink:AnatomicalEntity mondo Muscle innervated by the trigeminal nerve (Cranial Nerve V). http://purl.obolibrary.org/obo/UBERON_0018544 muscle innervated by the trigeminal nerve|muscles innervated by the trigeminal nerve HP:0002257 Chronic rhinitis biolink:PhenotypicFeature mondo UMLS:C0008711|SNOMEDCT_US:86094006 Chronic inflammation of the nasal mucosa. http://purl.obolibrary.org/obo/HP_0002257 UBERON:0006563 tunica media of pulmonary trunk biolink:AnatomicalEntity mondo Tunica media of artery which is continuous with the myocardium of right ventricle.[FMA] http://purl.obolibrary.org/obo/UBERON_0006563 UBERON:0006562 pharynx biolink:AnatomicalEntity mondo The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. http://purl.obolibrary.org/obo/UBERON_0006562 pharyngeal tube|anterior part of foregut UBERON:0006569 diencephalic nucleus biolink:AnatomicalEntity mondo A nucleus of brain that is part of a diencephalon. http://purl.obolibrary.org/obo/UBERON_0006569 UBERON:0006568 hypothalamic nucleus biolink:AnatomicalEntity mondo A nucleus of brain that is part of a hypothalamus. http://purl.obolibrary.org/obo/UBERON_0006568 nucleus of hypothalamus UBERON:0006567 right ventricle myocardium biolink:AnatomicalEntity mondo A myocardium that is part of a right ventricle of a heart. http://purl.obolibrary.org/obo/UBERON_0006567 myocardium of right ventricle|right ventricular myocardium HP:0002250 Abnormal large intestine morphology biolink:PhenotypicFeature mondo UMLS:C4025715 Any abnormality of the large intestine. http://purl.obolibrary.org/obo/HP_0002250 Abnormality of the large intestine UBERON:0006566 left ventricle myocardium biolink:AnatomicalEntity mondo A myocardium that is part of a left ventricle of a heart. http://purl.obolibrary.org/obo/UBERON_0006566 myocardium of left ventricle|left ventricular myocardium RO:0002608 process has causal agent biolink:OntologyClass mondo Inverse of 'causal agent in process' http://purl.obolibrary.org/obo/RO_0002608 UBERON:0006565 female urethral meatus biolink:AnatomicalEntity mondo A urethral meatus that is part of a female urethra[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0006565 urethral meatus of clitoral urethra|urethral opening of clitoral urethra|distal urethral opening of female|external orifice of female urethra|female urethral meatus|external urethral orifice (female)|ostium urethrae externum (urethra feminina) CHEBI:57718 barbiturate(2-) biolink:ChemicalSubstance mondo Dianion of barbituric acid arising from deprotonation at the N-1 and C-5 positions. http://purl.obolibrary.org/obo/CHEBI_57718 barbiturate dianion|2,4,6-trioxotetrahydro-2H-pyrimidine-1,5-diide|2,4,6-trioxo-1,3-diazinane-1,5-diide NCBITaxon:6329 Trichinellida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6329 HGNC:29419 EARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29419 CHEBI:33767 cobalt group molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity|cobalt group molecular entities UBERON:0006553 renal duct biolink:AnatomicalEntity mondo A tube in the kidney that collect and transport urine. http://purl.obolibrary.org/obo/UBERON_0006553 FOODON:00001248 fish food product biolink:OntologyClass mondo A fish food product includes products made from any fish species (aquatic vertebrate with gills and fins). http://purl.obolibrary.org/obo/FOODON_00001248 HP:0002269 Abnormality of neuronal migration biolink:PhenotypicFeature mondo MSH:D054081|UMLS:C1837249 An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. http://purl.obolibrary.org/obo/HP_0002269 Neuronal migration disorder|Heterotopias/abnormal migration|Abnormal neuronal migration|Migrational brain disorder NCBITaxon:6333 Trichinella organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6333 NCBITaxon:6334 Trichinella spiralis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6334 UBERON:0006558 lymphatic part of lymphoid system biolink:AnatomicalEntity mondo An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic system|lymporeticular system|lymphatic tree system NCBITaxon:6332 Trichinellidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6332 UBERON:0006555 excretory tube biolink:AnatomicalEntity mondo A tube that is part of a excretory system. http://purl.obolibrary.org/obo/UBERON_0006555 CHEBI:18140 hydrogen halide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_18140 hydrogen halide|hydrogen halides|hydrogen halides|HX UBERON:2002162 ural vertebra biolink:AnatomicalEntity mondo Vertebra that is incomplete or rudimentary and may bear a rudimentary neural arch and sometimes a rudimentary spine or the neural arch and spine are completely absent. Ural vertebrae are one of the last bony elements of the vertebral column, usually smaller than the preural centra. Ural vertebrae are numbered beginning from anterior (1) to posterior (2, 3, 4, etc.). Ural vertebra is an unpaired median bone. http://purl.obolibrary.org/obo/UBERON_2002162 NCBITaxon:2509514 Tegacovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2509514 NCBITaxon:2509511 Sarbecovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2509511 UBERON:0006542 outer medulla outer stripe loop of Henle biolink:AnatomicalEntity mondo A loop of Henle that is part of a kidney outer medulla outer stripe. http://purl.obolibrary.org/obo/UBERON_0006542 HP:0002239 Gastrointestinal hemorrhage biolink:PhenotypicFeature mondo UMLS:C0017181|SNOMEDCT_US:74474003|MSH:D006471 Hemorrhage affecting the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0002239 GI hemorrhage|Gastrointestinal haemorrhage|Gastrointestinal bleeding FOODON:00001256 dairy food product biolink:OntologyClass mondo http://www.langual.org/langual_thesaurus.asp?termid=H0242 A dairy food product has mammilian milk or a milk component as an ingredient. http://purl.obolibrary.org/obo/FOODON_00001256 milk product|dairy product FOODON:00001257 milk or milk based food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001257 NCBITaxon:6300 Tylenchina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6300 NCBITaxon:186537 Marburgvirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186537 Marburg-like viruses NCBITaxon:186536 Ebolavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186536 Ebola-like viruses NCBITaxon:186538 Zaire ebolavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186538 Zaire Ebola virus|ZEBOV UBERON:0006544 kidney vasculature biolink:AnatomicalEntity mondo A vasculature that is part of a kidney. http://purl.obolibrary.org/obo/UBERON_0006544 NCBITaxon:6308 Strongylida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6308 CHEBI:33747 nickel group molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33747 nickel group molecular entity|nickel group molecular entities CHEBI:33748 nickel molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33748 nickel molecular entity|nickel molecular entities|nickel compounds FOODON:00001262 botanical fruit food product biolink:OntologyClass mondo Mature ovary of a plant, with a fleshy part of the carpel that develops with the seed to attract animals for aid in dispersal. Botanically, nuts are considered fruits. http://purl.obolibrary.org/obo/FOODON_00001262 UBERON:0006531 oculomotor muscle biolink:AnatomicalEntity mondo The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris. http://purl.obolibrary.org/obo/UBERON_0006531 UBERON:0006530 seminal fluid biolink:AnatomicalEntity mondo A substance formed from the secretion of one or more glands of the male genital tract in which sperm cells are suspended. http://purl.obolibrary.org/obo/UBERON_0006530 seminal fluid|male genital fluid|seminal plasma|male genital secretion HP:0002244 Abnormality of the small intestine biolink:PhenotypicFeature mondo UMLS:C4025717 An abnormality of the small intestine. http://purl.obolibrary.org/obo/HP_0002244 HGNC:17416 ADGRV1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17416 HP:0002249 Melena biolink:PhenotypicFeature mondo SNOMEDCT_US:249627005|UMLS:C0474585|UMLS:C0025222|SNOMEDCT_US:2901004|MSH:D008551|SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|SNOMEDCT_US:35064005 The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. http://purl.obolibrary.org/obo/HP_0002249 Black feces CHEBI:33743 manganese group molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33743 manganese group molecular entity|manganese group molecular entities CHEBI:33744 iron group molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entities|iron group molecular entity HP:0002248 Hematemesis biolink:PhenotypicFeature mondo MSH:D006396|SNOMEDCT_US:8765009|UMLS:C0018926 The vomiting of blood. http://purl.obolibrary.org/obo/HP_0002248 Vomitting blood HGNC:17412 CLCF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17412 UBERON:0006539 mammary gland fluid/secretion biolink:AnatomicalEntity mondo A substance that is secreted by a mammary gland. The substance may differ depending on phase, with colostrum produced during pregancy/early lactation, and milk produced afterwards. http://purl.obolibrary.org/obo/UBERON_0006539 lactiferous gland fluid|lactiferous gland secretion|secretion of mammary gland|mammary gland secreted fluid|mammary gland fluid|mammary gland secretion UBERON:0006538 respiratory system fluid/secretion biolink:AnatomicalEntity mondo A portion of organism substance that secreted_by a respiratory system. http://purl.obolibrary.org/obo/UBERON_0006538 respiratory system secretion|respiratory system fluid UBERON:0006537 female reproductive gland secretion biolink:AnatomicalEntity mondo A portion of organism substance that is secreted by a female reproductive gland. http://purl.obolibrary.org/obo/UBERON_0006537 female reproductive system fluid|female reproductive system secretion|female reproductive system fluid/secretion UBERON:0006536 male reproductive gland secretion biolink:AnatomicalEntity mondo A portion of organism substance that is secreted by a male reproductive gland. http://purl.obolibrary.org/obo/UBERON_0006536 male reproductive system fluid|male reproductive system fluid/secretion|male reproductive system secretion UBERON:0006535 skin secretion biolink:AnatomicalEntity mondo A portion of organism substance that secreted_by a zone of skin. http://purl.obolibrary.org/obo/UBERON_0006535 skin fluid|skin fluid/secretion|skin substance HP:0002242 Abnormal intestine morphology biolink:PhenotypicFeature mondo MSH:D007410|UMLS:C0021831|SNOMEDCT_US:85919009 An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. http://purl.obolibrary.org/obo/HP_0002242 Abnormality of the intestine|Enteropathy UBERON:0006534 renal convoluted tubule biolink:AnatomicalEntity mondo Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/UBERON_0006534 convoluted tubule|kidney convoluted tubule HP:0002240 Hepatomegaly biolink:PhenotypicFeature mondo MSH:D006529|SNOMEDCT_US:80515008|UMLS:C0019209 Abnormally increased size of the liver. http://purl.obolibrary.org/obo/HP_0002240 Enlarged liver UBERON:0006532 oblique extraocular muscle biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006532 MONDO:0010719 radiation sensitivity of natural killer activity biolink:Disease mondo UMLS:C1839408|OMIM:312210|MESH:C564066 http://identifiers.org/omim/312210|UMLS:C1839408|MESH:C564066 http://purl.obolibrary.org/obo/MONDO_0010719 radiation sensitivity of natural killer activity|X-Ray Nk sensitivity MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome biolink:Disease mondo GARD:0003940|ICD10:Q87.8|OMIM:256120|UMLS:C1850553|MESH:C536401|SCTID:724093004|Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive. MESH:C536401|UMLS:C1850553|SNOMEDCT:724093004|ORPHA:2668|http://identifiers.org/omim/256120 http://purl.obolibrary.org/obo/MONDO_0009729 nephropathy - deafness - hyperparathyroidism|Edwards-Patton-Dilly syndrome|Edwards Patton Dilly syndrome|nephropathy, deafness, and hyperparathyroidism ordo_malformation_syndrome|gard_rare MONDO:0009728 nephronophthisis 1 biolink:Disease mondo SCTID:444830001|MESH:C537699|NCIT:C74998|OMIM:256100|Orphanet:93592|UMLS:C1855681|ICD10:Q61.5|DOID:0111112|UMLS:CN205459 Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. UMLS:C1855681|UMLS:CN205459|NCIT:C74998|SNOMEDCT:444830001|ORPHA:93592|DOID:0111112|http://identifiers.org/omim/256100|MESH:C537699 http://purl.obolibrary.org/obo/MONDO_0009728 juvenile nephronophthisis|familial juvenile nephronophthisis|nephronophthisis type 1|nephronophthisis 1; NPHP1|NPHP1 nephronophthisis (disease)|NPHP1|nephronophthisis, familial juvenile|juvenile nephronophthisis 1|nephronophthisis 1|Nph1|NPH1|nephronophthisis (disease) caused by mutation in NPHP1 ordo_clinical_subtype MONDO:0009727 atelosteogenesis type II biolink:Disease mondo UMLS:C1850554|Orphanet:56304|OMIM:256050|MESH:C535395|GARD:0008329|UMLS:C1850555|ICD10:Q77.5|SCTID:254055004|ICD9:756.9 Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. UMLS:C0432203|MESH:C535395|SNOMEDCT:254055004|UMLS:C1850555|UMLS:C1850554|http://identifiers.org/omim/256050|ORPHA:56304 http://purl.obolibrary.org/obo/MONDO_0009727 De 50A Chapelle dysplasia|neonatal osseous dysplasia 1|neonatal osseous dysplasia type 1|AOII|Aoii|AO2|atelosteogenesis, type 2|atelosteogenesis type 2|De la Chapelle dysplasia|atelosteogenesis, type II; AO2|atelosteogenesis, type II|atelosteogenesis II ordo_malformation_syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome biolink:Disease mondo DOID:0050553|ICD9:709.8|GARD:0003916|MESH:C538334|UMLS:CN202195|OMIMPS:256040|GARD:0003917|GARD:0010988|GARD:0010811|Orphanet:325004|UMLS:CN204109|Orphanet:2615|SCTID:702449004|ICD10:L98.8|Orphanet:324999|Orphanet:324977 ORPHA:325004|UMLS:CN204109|SNOMEDCT:702449004|UMLS:CN202195|ORPHA:324977|ORPHA:324999|MESH:C538334|ORPHA:2615|DOID:0050553 http://purl.obolibrary.org/obo/MONDO_0009726 chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature|chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome|autoinflammation, lipodystrophy, and dermatosis syndrome|amyotrophy-fat tissue anomaly syndrome|Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|ALDD|secondary hypertrophic osteoperiostosis with pernio|amyotrophy fat tissue anomaly|proteasome-associated autoinflammatory syndrome|nodular erythema digital changes|NNS|Nakajo Nishimura syndrome|proteasome disability syndrome|Nakajo syndrome|autoinflammation-lipodystrophy-dermatosis syndrome|Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy|Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome|autoinflammation, lipodystrophy, and dermatosis syndrome; ALDD|PRAAS|JMP syndrome|CANDLE syndrome|ALDD syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|Nakajo-Nishimura syndrome ordo_clinical_subtype|gard_rare|ordo_disease MONDO:0009725 nemaline myopathy 2 biolink:Disease mondo MESH:C538349|NCIT:C118784|UMLS:CN187052|UMLS:C1850569|OMIM:256030|DOID:0110928 An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness. DOID:0110928|UMLS:C1850569|MESH:C538349|NCIT:C118784|http://identifiers.org/omim/256030|UMLS:CN187052 http://purl.obolibrary.org/obo/MONDO_0009725 nemaline myopathy 2|NEB nemaline myopathy|NEM2|nemaline myopathy caused by mutation in NEB|nemaline myopathy type 2|nemaline myopathy 2; NEM2|nemaline myopathy 2, autosomal recessive MONDO:0009724 nail-patella-like renal disease biolink:Disease mondo SCTID:236527004|ICD9:756.89|UMLS:C0403548|GARD:0000321|OMIM:256020|Orphanet:2613|MESH:C537228 Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. UMLS:C0403548|SNOMEDCT:236527004|ORPHA:2613|MESH:C537228|http://identifiers.org/omim/256020 http://purl.obolibrary.org/obo/MONDO_0009724 nail patella like renal disease|nail-patella-like renal disease|glomerular basement Membrane disease, nail-patella syndrome type|Salcedo syndrome ordo_disease MONDO:0022700 cerebral palsy spastic monoplegic biolink:Disease mondo GARD:0010446 http://purl.obolibrary.org/obo/MONDO_0022700 spastic monoplegia cerebral palsy|spastic monoplegic cerebral palsy gard_rare MONDO:0009723 Leigh syndrome biolink:Disease mondo ICD10:G31.8|ICD9:330.8|UMLS:C0023264|MedDRA:10062950|MESH:D007888|SCTID:29570005|NCIT:C84814|OMIM:256000|ICD10:G31.82|GARD:0006877|Orphanet:506|DOID:3652 Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. UMLS:C0023264|MESH:D007888|DOID:3652|SNOMEDCT:29570005|MEDDRA:10062950|NCIT:C84814|http://identifiers.org/omim/256000|UMLS:C0751267|ORPHA:506 http://purl.obolibrary.org/obo/MONDO_0009723 Leigh syndrome due to mitochondrial Complex 2 deficiency|Leigh syndrome due to mitochondrial Complex 3 deficiency|Leigh syndrome|Leigh syndrome due to mitochondrial Complex 4 deficiency|Leigh syndrome due to mitochondrial Complex 5 deficiency|necrotizing encephalopathy, infantile Subacute, of Leigh|Leigh syndrome; LS|Leigh's necrotizing encephalopathy|Leigh disease|infantile necrotizing encephalomyelopathy|Leigh's disease|juvenile subacute necrotizing encephalomyelopathy|SNE|LS|subacute necrotizing encephalopathy|subacute necrotizing encephalomyelopathy|infantile subacute necrotizing encephalopathy|Leigh syndrome due to mitochondrial Complex 1 deficiency ordo_group_of_disorders MONDO:0010712 panhypopituitarism, X-linked biolink:Disease mondo SCTID:237683004|GARD:0006737|OMIM:312000|MESH:C538613 http://identifiers.org/omim/312000|MESH:C538613|SNOMEDCT:237683004 http://purl.obolibrary.org/obo/MONDO_0010712 pituitary dwarfism IV|PHPX|panhypopituitarism X-linked|panhypopituitarism, X-linked; PHPX|pituitary dwarfism IV (formerly)|pituitary dwarfism IV, formerly|panhypopituitarism, X-linked gard_rare MONDO:0010711 tarp syndrome biolink:Disease mondo MESH:C536942|UMLS:C1839463|Orphanet:2886|GARD:0010089|OMIM:311900|ICD10:Q87.8|SCTID:725911008 TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. ORPHA:2886|UMLS:C1839463|http://identifiers.org/omim/311900|MESH:C536942|SNOMEDCT:725911008 http://purl.obolibrary.org/obo/MONDO_0010711 TARPS|Pierre Robin syndrome with congenital heart malformation and clubfoot|tarp syndrome|talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava|talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome|Pierre Robin sequence-congenital heart defect-talipes syndrome|Pierre Robin syndrome-congenital heart defect-talipes syndrome|tarp syndrome; TARPS|Pierre Robin syndrome - congenital heart defect - talipes|Pierre Robin sequence - congenital heart defect - talipes|talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava gard_rare|ordo_malformation_syndrome MONDO:0009722 Bailey-Bloch congenital myopathy biolink:Disease mondo ICD10:G71.2|UMLS:C1850625|GARD:0008432|MESH:C538343|DOID:0060346|SCTID:723439002|OMIM:255995|Orphanet:168572 Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. DOID:0060346|http://identifiers.org/omim/255995|ORPHA:168572|UMLS:C1850625|MESH:C538343|SNOMEDCT:723439002 http://purl.obolibrary.org/obo/MONDO_0009722 Native American myopathy|NAM|congenital myopathy-cleft palate-malignant hyperthermia syndrome|myopathy, congenital, with cleft palate and malignant hyperthermia|congenital myopathy - cleft palate - malignant hyperthermia|STAC3 disorder|congenital myopathy cleft palate and malignant hyperthermia|Native American myopathy; NAM ordo_malformation_syndrome MONDO:0009721 Nathalie syndrome biolink:Disease mondo MESH:C538342|GARD:0003929|Orphanet:2663|SCTID:716170005|OMIM:255990|UMLS:C1850626|ICD10:Q87.8 Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. http://identifiers.org/omim/255990|UMLS:C1850626|MESH:C538342|ORPHA:2663|SNOMEDCT:716170005 http://purl.obolibrary.org/obo/MONDO_0009721 sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome|deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics|deafness-cataract-skeletal anomalies syndrome|deafness-cataracts-skeletal anomalies syndrome|Nathalie syndrome ordo_malformation_syndrome|gard_rare MONDO:0010714 Pelizaeus-Merzbacher disease biolink:Disease mondo Orphanet:702|OMIM:312080|GARD:0004265|NCIT:C75487|MedDRA:10067610|MESH:D020371|ICD10:E75.2|SCTID:64855000|UMLS:C0205711|DOID:3210 Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. MESH:D020371|http://identifiers.org/omim/312080|MEDDRA:10067610|SNOMEDCT:64855000|DOID:3210|NCIT:C75487|ORPHA:702|UMLS:C0205711 http://purl.obolibrary.org/obo/MONDO_0010714 leukodystrophy, sudanophilic|leukodystrophy, hypomyelinating, 1|sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus Merzbacher brain sclerosis|hypomyelinating leukodystrophy 1|Pelizaeus-Merzbacher brain sclerosis|Sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus-Merzbacher disease; PMD|diffuse familial brain sclerosis|Pelizaeus Merzbacher disease|Pelizaeus-Merzbacher disease|HLD1|PMD gard_rare|ordo_disease MONDO:0009720 Keipert syndrome biolink:Disease mondo GARD:0000267|OMIM:255980|ICD10:Q87.0|OMIM:301026|Orphanet:2662|UMLS:C1850627|SCTID:763774001|MESH:C538337 Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. http://identifiers.org/omim/255980|http://identifiers.org/omim/301026|UMLS:C1850627|MESH:C538337|ORPHA:2662|SNOMEDCT:763774001 http://purl.obolibrary.org/obo/MONDO_0009720 nasodigitoacoustic syndrome, formerly|Keipert syndrome|nasodigitoacoustic syndrome|Keipert syndrome; KPTS ordo_malformation_syndrome MONDO:0010713 properdin deficiency biolink:Disease mondo Orphanet:2966|SCTID:81166004|ICD10:D84.1|ICD9:279.8|OMIM:312060|GARD:0004513|GARD:0009913|MESH:C537241 Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease. http://identifiers.org/omim/312060|SNOMEDCT:81166004|MESH:C537241|ORPHA:2966|UMLS:C0398762 http://purl.obolibrary.org/obo/MONDO_0010713 PFD|complement Factor properdin deficiency|CFPD|properdin P Factor deficiency|properdin deficiency, type 3|properdin deficiency, type 2|properdin deficiency, type 1|properdin deficiency, X-linked; CFPD|properdin deficiency, X-linked ordo_disease MONDO:0010716 X-linked lethal multiple pterygium syndrome biolink:Disease mondo OMIM:312150|GARD:0004573|MESH:C564072|SCTID:763462004|Orphanet:79447|ICD10:Q79.8|UMLS:C1839440 X-linked form of lethal multiple pterygium syndrome. http://identifiers.org/omim/312150|SNOMEDCT:763462004|UMLS:C1839440|MESH:C564072|ORPHA:79447 http://purl.obolibrary.org/obo/MONDO_0010716 pterygium syndrome, multiple, X-linked|lethal multiple pterygium syndrome, X-linked|multiple pterygium syndrome, X-linked|multiple pterygium syndrome X-linked|pterygium syndrome multiple X-linked gard_rare|ordo_malformation_syndrome MONDO:0010715 obsolete pseudohermaphroditism, incomplete male, type 1 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010715 MONDO:0010718 absent radius-anogenital anomalies syndrome biolink:Disease mondo MESH:C535281|UMLS:C1839410|Orphanet:3016|GARD:0004633|OMIM:312190 Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. ORPHA:3016|http://identifiers.org/omim/312190|UMLS:C1839410|MESH:C535281 http://purl.obolibrary.org/obo/MONDO_0010718 radial aplasia, X-linked|radial aplasia and anogenital anomalies|radius absent anogenital anomalies ordo_malformation_syndrome MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency biolink:Disease mondo OMIM:312170|ICD9:277.6|Orphanet:79243|SCTID:124593001|ICD10:E74.4|GARD:0004620 Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction. http://identifiers.org/omim/312170|ORPHA:79243|SNOMEDCT:124593001 http://purl.obolibrary.org/obo/MONDO_0010717 ataxia with lactic acidosis 1|ataxia, intermittent, with abnormal pyruvate metabolism|PDH deficiency|pyruvate dehydrogenase E1-alpha deficiency|PDHAD|ataxia, intermittent, with pyruvate dehydrogenase deficiency|lactic acidemia, thiamine-responsive|pyruvate decarboxylase deficiency|pyruvate dehydrogenase Complex deficiency|ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency|pyruvate dehydrogenase complex E1 component subunit alpha deficiency|pyruvate dehydrogenase E1-ALPHA deficiency; PDHAD gard_rare|ordo_clinical_subtype CHEBI:33719 alpha-amino-acid cation biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33719 alpha-amino acid cations|alpha-amino-acid cations|alpha-amino-acid cation MONDO:0010721 reticuloendotheliosis, X-linked biolink:Disease mondo MESH:C538362|UMLS:C0035288|OMIM:312500|GARD:0007559 http://identifiers.org/omim/312500|MESH:C538362|UMLS:C0035288 http://purl.obolibrary.org/obo/MONDO_0010721 reticuloendotheliosis|reticuloendotheliosis, X-linked CHEBI:33710 alpha-amino-acid residue biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residues MONDO:0010720 partial androgen insensitivity syndrome biolink:Disease mondo GTR:AN0098655|OMIM:312300|GTR:AN0098654|GTR:AN0098652|GTR:AN0098651|OMIM:312100|SCTID:122811000119101|GTR:AN0098650|ICD10:E34.52|NCIT:C120192|Orphanet:90797|OMIM:307300|MESH:C538435|UMLS:CN035075|GTR:AN0098649|ICD10:E34.5|GARD:0005692 Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. http://identifiers.org/omim/312300|http://identifiers.org/omim/307300|MESH:C538435|NCIT:C120192|ORPHA:90797|SNOMEDCT:122811000119101|UMLS:CN035075|http://identifiers.org/omim/312100 http://purl.obolibrary.org/obo/MONDO_0010720 androgen insensitivity, partial; pais|incomplete male pseudohermaphroditism|Reifenstein syndrome, partial|pseudohermaphroditism, incomplete male, type I|Reifenstein syndrome|androgen insensitivity, partial|familial incomplete Male pseudohermaphroditism, type 1|androgen resistance syndrome, partial|PAIS|androgen insensitivity syndrome, partial|partial androgen resistance syndrome|androgen insensitivity, partial, with or without breast cancer|type I familial incomplete male pseudohermaphroditism ordo_disease|gard_rare HP:0100606 Neoplasm of the respiratory system biolink:PhenotypicFeature mondo SNOMEDCT_US:126667002|MSH:D012142|UMLS:C0035244|SNOMEDCT_US:448708002|NCIT:C3262 A tumor (abnormal growth of tissue) of the respiratory system. http://purl.obolibrary.org/obo/HP_0100606 Respiratory system tumor HP:0100603 Toxemia of pregnancy biolink:PhenotypicFeature mondo SNOMEDCT_US:15394000|UMLS:C0032914|SNOMEDCT_US:398254007|MSH:D011225 Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. http://purl.obolibrary.org/obo/HP_0100603 Hypertensive disorder of pregnancy|Toxaemia of pregnancy MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome biolink:Disease mondo SCTID:716107009|MESH:C537179|GARD:0003203|OMIM:311510|Orphanet:2379|ICD10:G20|UMLS:C0796195 Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. UMLS:C0796195|ORPHA:2379|MESH:C537179|http://identifiers.org/omim/311510|SNOMEDCT:716107009 http://purl.obolibrary.org/obo/MONDO_0010709 X-linked recessive basal ganglia disorder with intellectual disability|basal ganglia disorder with intellectual disability|WAISMAN syndrome|Parkinsonism, early onset with intellectual disability|WSMN|basal ganglion disorder with mental retardation|Waisman syndrome|basal ganglion disorder with intellectual disability|Wsn|Parkinsonism, early onset with mental retardation|Laxova-Opitz syndrome|BGMR|basal ganglia disorder with mental retardation|X-linked recessive basal ganglia disorder with mental retardation|WAISMAN syndrome; WSMN|Laxova Brown hogan syndrome|Parkinsonism, early-onset, with intellectual disability|Parkinsonism, early-onset, with mental retardation ordo_disease MONDO:0010708 Pallister-W syndrome biolink:Disease mondo SCTID:719020006|UMLS:C0796110|ICD10:Q87.8|OMIM:311450|Orphanet:2804|MESH:C538106|GARD:0000358 W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. SNOMEDCT:719020006|UMLS:C0796110|MESH:C538106|http://identifiers.org/omim/311450|ORPHA:2804 http://purl.obolibrary.org/obo/MONDO_0010708 median cleft upper lip, intellectual disability and pugilistic facies|W syndrome|Pallister-W syndrome|median cleft upper lip, mental retardation and pugilistic facies|Pallister W syndrome ordo_malformation_syndrome MONDO:0009739 infantile neuroaxonal dystrophy biolink:Disease mondo Orphanet:35069|ICD9:330.8|SCTID:52713000|GARD:0003957|NCIT:C84927|ICD10:G23.0|MESH:C536071 Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. http://identifiers.org/omim/256600|SNOMEDCT:52713000|ORPHA:35069|NCIT:C84927|MESH:C536071 http://purl.obolibrary.org/obo/MONDO_0009739 Hunter-Carpenter-McDonald syndrome|KARAK syndrome, included|plan|INAD1|inaD|infantile neuroaxonal dystrophy|infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy|phospholipase A2-associated neurodegeneration|Seitelberger disease ordo_disease|gard_rare MONDO:0009738 sialidosis type 2 biolink:Disease mondo DOID:3343|MESH:C562606|ICD10:E77.1|OMIM:256150|UMLS:C0268232|SCTID:52186006|UMLS:CN206285|GARD:0007183|OMIM:256550|Orphanet:87876|UMLS:C3888317|NCIT:C125596|SCTID:81896006 Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. DOID:3343|UMLS:CN206285|NCIT:C125596|SNOMEDCT:81896006|MESH:C562606|SNOMEDCT:52186006|UMLS:C0268232|UMLS:C3888317|ORPHA:87876|http://identifiers.org/omim/256150|http://identifiers.org/omim/256550 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis|neuraminidase deficiency|sialidosis, type II|ML1|Neu1 deficiency|neuraminidase 1 deficiency|mucolipidosis I|glycoprotein neuraminidase deficiency|glycoproteinosis|sialidosis type II|mucolipidosis type I|myoclonus--cherry Red spot syndrome|sialidase deficiency|nephrosialidosis|mucolipidosis type 1|Neug deficiency|cherry Red spot--myoclonus syndrome|ML 1|sialidosis, type 2|dysmorphic sialidosis|NEU1 sialidosis|Neu deficiency|dysmorphic sialidosis with renal involvement|sialidosis caused by mutation in NEU1|sialidosis, type 1|mucolipidosis 1|lipomucopolysaccharidosis|NEU 1 deficiency|infantile dysmorphic sialidosis ordo_disease MONDO:0009737 galactosialidosis biolink:Disease mondo ICD9:277.6|NCIT:C129928|OMIM:256540|ICD10:E77.1|Orphanet:351|GARD:0003953|MESH:C536411|SCTID:35691006|UMLS:C0268233 Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. UMLS:C0268233|ORPHA:351|NCIT:C129928|http://identifiers.org/omim/256540|MESH:C536411|SNOMEDCT:35691006 http://purl.obolibrary.org/obo/MONDO_0009737 neuraminidase/Beta-galactosidase expression|galactosialidosis; GSL|neuraminidase deficiency with beta-galactosidase deficiency|neuraminidase deficiency with beta-galactosidase deficiency|lysosomal protective Protein deficiency|GSL|protective Protein/Cathepsin a deficiency|cathepsin A deficiency|PPCA deficiency|cathepsin A deficiency of|galactosialidosis|Goldberg syndrome|lysosomal protective protein deficiency of ordo_disease|gard_rare MONDO:0009736 Neu-Laxova syndrome 1 biolink:Disease mondo DOID:0080076|UMLS:CN032230|ICD10:Q87.8|OMIM:256520 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene. UMLS:CN032230|DOID:0080076|http://identifiers.org/omim/256520 http://purl.obolibrary.org/obo/MONDO_0009736 3-Phosphoglycerate dehydrogenase deficiency, neonatal form|PHGDH Neu-Laxova syndrome|Neu-Laxova syndrome type 1|Neu-Laxova syndrome caused by mutation in PHGDH|NLS1|Neu-Laxova syndrome 1; NLS1|Neu-Laxova syndrome|Neu-Laxova syndrome 1 MONDO:0009735 Netherton syndrome biolink:Disease mondo DOID:0050474|MedDRA:10062909|OMIM:256500|ICD10:Q80.8|Orphanet:634|SCTID:312514006|MESH:D056770|GARD:0007182|NCIT:C84922 Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. MEDDRA:10062909|SNOMEDCT:312514006|NCIT:C84922|MESH:D056770|ORPHA:634|http://identifiers.org/omim/256500|DOID:0050474 http://purl.obolibrary.org/obo/MONDO_0009735 CoMèl-Netherton syndrome|Comèl-Netherton syndrome|Netherton disease|Netherton syndrome; neth|Netherton syndrome|neth|Ns|NS|bamboo hair syndrome|Comel-Netherton syndrome|erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE ordo_disease|gard_rare MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 biolink:Disease mondo SCTID:360339005|DOID:0070219|OMIM:256450 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene. DOID:0070219|SNOMEDCT:360339005|http://identifiers.org/omim/256450 http://purl.obolibrary.org/obo/MONDO_0009734 ABCC8 hyperinsulinemic hypoglycemia (disease)|hypoglycemia, hyperinsulinemic, of infancy|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|Nesidioblastosis of pancreas|hyperinsulinism, congenital|hyperinsulinemic hypoglycemia, familial, 1; HHF1|hyperinsulinemic hypoglycemia, familial, 1|hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8|hyperinsulinemic hypoglycemia, familial, type 1|HHF1|hyperinsulinemic hypoglycemia due to SUR1 deficiency|hyperinsulinism, familial, with pancreatic Nesidioblastosis|persistent hyperinsulinemic hypoglycemia of infancy MONDO:0010701 obsolete opticoacoustic nerve atrophy with dementia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0010701 MONDO:0010700 optic atrophy--spastic paraplegia syndrome biolink:Disease mondo MESH:C564084|OMIM:311100|UMLS:C1839565 http://identifiers.org/omim/311100|UMLS:C1839565|MESH:C564084 http://purl.obolibrary.org/obo/MONDO_0010700 optic atrophy--spastic paraplegia syndrome MONDO:0009733 nephrotic syndrome, type 4 biolink:Disease mondo OMIM:256370|NCIT:C121198|GARD:0003547 Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. NCIT:C121198|http://identifiers.org/omim/256370 http://purl.obolibrary.org/obo/MONDO_0009733 nephrotic syndrome caused by mutation in WT1|diffuse isolated mesangial sclerosis|NPHS4|mesangial sclerosis, diffuse|nephrotic syndrome, early onset with diffuse mesangial sclerosis|WT1 nephrotic syndrome|DMS|diffuse mesangial sclerosis|familial mesangial sclerosis|congenital nephrotic syndrome - diffuse mesangial sclerosis|nephrotic syndrome, type 4; NPHS4|isolated diffuse mesangial sclerosis|nephrotic syndrome, type 4 clingen MONDO:0010703 ornithine carbamoyltransferase deficiency biolink:Disease mondo GARD:0008391|ICD10:E72.4|Orphanet:664|UMLS:C0268542|MESH:D020163|NCIT:C84957|EFO:0007409|MedDRA:10052450|OMIM:311250|DOID:9271|SCTID:80908008 Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications. DOID:9271|MESH:D020163|NCIT:C84957|UMLS:C0268542|http://identifiers.org/omim/311250|SNOMEDCT:80908008|MEDDRA:10052450|ORPHA:664 http://purl.obolibrary.org/obo/MONDO_0010703 OCT deficiency|OTC deficiency|OTCD|deficiency of citrulline phosphorylase|ornithine carbamoyltransferase deficiency|ornithine transcarbamylase deficiency, hyperammonemia due to|valproate sensitivity|ornithine transcarbamylase deficiency|ornithine carbamoyltransferase deficiency disease ordo_disease|clingen MONDO:0009732 congenital nephrotic syndrome, Finnish type biolink:Disease mondo MedDRA:10060740|SCTID:197601003|ICD10:N04.8|UMLS:C0403399|OMIM:256300|NCIT:C122795|GARD:0001500|Orphanet:839 Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. SNOMEDCT:197601003|MEDDRA:10060740|NCIT:C122795|http://identifiers.org/omim/256300|ORPHA:839|UMLS:C0403399|MESH:C535761 http://purl.obolibrary.org/obo/MONDO_0009732 congenital nephrotic syndrome Finnish type|nephrotic syndrome, type 1; NPHS1|nephrosis 1, congenital, Finnish type|congenital nephrotic syndrome 1|Finnish congenital nephrosis|CnF|nephrosis, congenital|congenital nephrotic syndrome - Finnish type|NPHS1|nephrotic syndrome, type 1|nephrotic syndrome - NPHS1 associated|nephrotic syndrome, congenital clingen|gard_rare|ordo_disease MONDO:0010702 orofaciodigital syndrome I biolink:Disease mondo UMLS:C2698658|GARD:0004121|DOID:0060316|Orphanet:2750|SCTID:763833006|NCIT:C75481|UMLS:C1510460|OMIM:311200|ICD10:Q87.0 Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. UMLS:C2931426|http://identifiers.org/omim/311200|ORPHA:2750|NCIT:C75481|SNOMEDCT:763833006|DOID:0060316|UMLS:C2698658|UMLS:C1510460 http://purl.obolibrary.org/obo/MONDO_0010702 OFDI|OFD syndrome 1|Papillon-Leage-Psaume syndrome|orofaciodigital syndrome I|orofaciodigital syndrome I; OFD1|Papillon-Leage and Psaume syndrome|oral-facial-digital syndrome, type 1|orofaciodigital syndrome 1|oral facial digital syndrome type 1|orofaciodigital syndrome type I|Papillon-Léage-Psaume syndrome|OFDS 1|oral facial digital syndrome 1|oral-facial-digital syndrome 1|OFDSI|OFD1|oral-facial-digital syndrome type 1|Papillon-league-Psaume syndrome (formerly)|orofaciodigital syndrome type 1 ordo_malformation_syndrome MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:C1850552|OMIM:256200|MESH:C536402|GARD:0003943|Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. UMLS:C1850552|ORPHA:2669|http://identifiers.org/omim/256200|MESH:C536402 http://purl.obolibrary.org/obo/MONDO_0009731 nephrosis with deafness and urinary tract and digital malformations|Braun-Bayer syndrome|nephrosis deafness urinary tract digital malformation ordo_malformation_syndrome MONDO:0010705 ouabain resistance biolink:Disease mondo OMIM:311350 http://identifiers.org/omim/311350 http://purl.obolibrary.org/obo/MONDO_0010705 OUBR|ouabain resistance|ouabain resistance; OUBR MONDO:0009730 obsolete nephrosialidosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0009730 MONDO:0010704 otopalatodigital syndrome type 1 biolink:Disease mondo ICD9:759.89|Orphanet:90650|OMIM:311300|NCIT:C118845|GARD:0005121|ICD10:Q87.0|SCTID:54036001 Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. http://identifiers.org/omim/311300|SNOMEDCT:54036001|NCIT:C118845|ORPHA:90650 http://purl.obolibrary.org/obo/MONDO_0010704 Taybi syndrome|otopalatodigital syndrome, type I; OPD1|OPD 1 syndrome|otopalatodigital spectrum disorder|otopalatodigital syndrome, type I|OPD I syndrome|OPD syndrome|oto-palato-digital syndrome type 1|OPD1|otopalatodigital syndrome, type 1|OPD syndrome 1|frontootopalatodigital osteodysplasia ordo_clinical_subtype NCBITaxon:451507 Mucoromycotina organism taxon mondo PMID:17572334|PMID:17051209|GC_ID:1|PMID:17010206|PMID:14715234|PMID:27738200 http://purl.obolibrary.org/obo/NCBITaxon_451507 Zygomycota MONDO:0010707 Paine syndrome biolink:Disease mondo MESH:C538101|OMIM:311400|GARD:0009780|UMLS:C1412041 UMLS:C1412041|MESH:C538101|http://identifiers.org/omim/311400 http://purl.obolibrary.org/obo/MONDO_0010707 Paine syndrome|microcephaly with spastic diplegia|Seemanova syndrome 1 gard_rare MONDO:0010706 premature ovarian failure 1 biolink:Disease mondo ICD9:256.39|GARD:0004480|OMIM:311360 Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene. http://identifiers.org/omim/311360 http://purl.obolibrary.org/obo/MONDO_0010706 premature ovarian failure type 1|FMR1-related premature ovarian failure|familial premature ovarian failure|fragile X-associated primary ovarian insufficiency|idiopathic familial premature ovarian failure|ovarian failure, premature|primary ovarian failure caused by mutation in FMR1|premature ovarian failure, X-linked|hypergonadotropic ovarian failure, X-linked|Pof1|FMR1-related primary ovarian insufficiency|premature ovarian failure 1|premature ovarian failure 1; Pof1|FMR1 primary ovarian failure UBERON:0006596 presumptive blood biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006596 future blood NCBITaxon:186540 Sudan ebolavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_186540 SEBOV|SUDV|Ebolavirus Sudan|Sudan Ebola virus UBERON:0006595 presumptive endoderm biolink:AnatomicalEntity mondo Presumptive structure of the blastula that will develop into endoderm. http://purl.obolibrary.org/obo/UBERON_0006595 UBERON:0006592 transformed vein biolink:AnatomicalEntity mondo A remnant of embryonic structure that develops_from a vein. http://purl.obolibrary.org/obo/UBERON_0006592 MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome biolink:Disease mondo MESH:C535926|OMIM:311895|Orphanet:2888|SCTID:723461007|UMLS:C2931064|GARD:0001274|ICD10:Q87.8 This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal. SNOMEDCT:723461007|ORPHA:2888|http://identifiers.org/omim/311895|UMLS:C2931064|MESH:C535926 http://purl.obolibrary.org/obo/MONDO_0010710 Robin sequence with facial and digital anomalies|Chitayat-Meunier-Hodgkinson syndrome|Chitayat Meunier Hodgkinson syndrome|Pierre Robin sequence-faciodigital anomaly syndrome|Pierre Robin syndrome, faciodigital anomaly|Pierre Robin sequence with facial and digital anomalies ordo_malformation_syndrome|gard_rare UBERON:0006591 transformed artery biolink:AnatomicalEntity mondo A remnant of embryonic structure that develops_from a artery. http://purl.obolibrary.org/obo/UBERON_0006591 UBERON:0006590 remnant of embryonic structure biolink:AnatomicalEntity mondo A vestigial structure that is a remnant of an embryonic structure that remains in the adult organism. http://purl.obolibrary.org/obo/UBERON_0006590 vestigial embryonic structure UBERON:0006598 presumptive structure biolink:AnatomicalEntity mondo Portion of embryonic tissue determined by fate mapping to become a structure. http://purl.obolibrary.org/obo/UBERON_0006598 future structure|presumptive structures MONDO:0009709 myopathy, centronuclear, 2 biolink:Disease mondo OMIM:255200|MESH:C562934 Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene. http://identifiers.org/omim/255200|MESH:C562934 http://purl.obolibrary.org/obo/MONDO_0009709 centronuclear myopathy caused by mutation in BIN1|BIN1 centronuclear myopathy|myopathy, centronuclear, 2; CNM2|CNM2|myopathy, centronuclear, type 2|myopathy, centronuclear, 2|myotubular myopathy, autosomal recessive|myopathy, centronuclear, autosomal recessive MONDO:0009708 myopathy, myosin storage, autosomal recessive biolink:Disease mondo MESH:C564970|OMIM:255160|UMLS:C1850709 UMLS:C1850709|http://identifiers.org/omim/255160|MESH:C564970 http://purl.obolibrary.org/obo/MONDO_0009708 myopathy, myosin storage, autosomal recessive; MSMB|myopathy, myosin storage, autosomal recessive|MSMB|myopathy, hyaline body, autosomal recessive MONDO:0009707 myopathy with giant abnormal mitochondria biolink:Disease mondo MESH:C564971|OMIM:255140|UMLS:C1850717 http://identifiers.org/omim/255140|MESH:C564971|UMLS:C1850717 http://purl.obolibrary.org/obo/MONDO_0009707 myopathy with giant abnormal mitochondria MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency biolink:Disease mondo Orphanet:43115|MESH:C564972|ICD9:259.8|ICD10:G71.3|OMIM:255125|SCTID:699268002|UMLS:C1850718 Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase. SNOMEDCT:699268002|ORPHA:43115|http://identifiers.org/omim/255125|MESH:C564972|UMLS:C1850718 http://purl.obolibrary.org/obo/MONDO_0009706 HML|myopathy with deficiency of succinate dehydrogenase and aconitase|aconitase deficiency|myopathy with exercise intolerance, Swedish type|iron-sulfur cluster deficiency myopathy|myoglobinuria due to abnormal glycolysis|myopathy with lactic acidosis, hereditary|myopathy with lactic acidosis, hereditary; HML|ISCU myopathy ordo_disease MONDO:0009705 carnitine palmitoyl transferase 1A deficiency biolink:Disease mondo UMLS:C1829703|ICD9:277.85|HGNC:2328|MESH:C535588|OMIM:255120|GARD:0001120|SCTID:238001003|DOID:0090129|NCIT:C98871|ICD10:E71.3|Orphanet:156 Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. ORPHA:156|SNOMEDCT:238001003|http://identifiers.org/omim/255120|DOID:0090129|MESH:C535588|NCIT:C98871|UMLS:C1829703 http://purl.obolibrary.org/obo/MONDO_0009705 disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A|L-CPTI deficiency|hepatic carnitine palmitoyl transferase I deficiency|CPT deficiency, hepatic, type 1|L-CPT 1 deficiency|Carnitine palmitoyltransferase 1A deficiency|carnitine palmitoyl transferase IA deficiency|CPT I deficiency|hepatic carnitine palmitoyltransferase 1 deficiency|Carnitine palmitoyl transferase 1 deficiency|Carnitine palmitoyl transferase IA deficiency|L-CPT1 deficiency|CPT1A deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|CPT 1 deficiency|Carnitine Palmitoyltransferase 1A deficiency|Carnitine Palmitoyltransferase 1 deficiency|hepatic CPT1|CPT1A disorder of carnitine cycle and carnitine transport|hepatic CPT deficiency type I|carnitine palmitoyl transferase 1A deficiency|carnitine palmitoyltransferase I deficiency ordo_disease|gard_rare|clingen MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form biolink:Disease mondo MESH:C563461|UMLS:C1833508|ICD10:E71.3|OMIM:255110|Orphanet:228302 The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. http://identifiers.org/omim/255110|MESH:C563461|ORPHA:228302|UMLS:C1833508 http://purl.obolibrary.org/obo/MONDO_0009704 CPTII, adult-onset form|CPTII, myopathic form|Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced|CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced|Carnitine palmitoyl transferase II deficiency, adult-onset form|CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset|Carnitine Palmitoyltransferase 2 deficiency, myopathic|CPT 2 deficiency, myopathic|Cpt2 deficiency, late-onset|CPT2, adult-onset form|Carnitine Palmitoyltransferase 2 deficiency, adult-onset|Carnitine palmitoyl transferase deficiency type 2, adult-onset form|CPT2, myopathic form|Carnitine palmitoyl transferase deficiency type 2, myopathic form ordo_clinical_subtype MONDO:0009703 myopathy with abnormal lipid metabolism biolink:Disease mondo OMIM:255100 http://identifiers.org/omim/255100 http://purl.obolibrary.org/obo/MONDO_0009703 LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency; LSMFLAD|lipid storage myopathy|LSMFLAD|lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency|myopathy with abnormal lipid metabolism MONDO:0009702 myopathy due to malate-aspartate shuttle defect biolink:Disease mondo UMLS:C1850744|OMIM:254960|MESH:C564973 MESH:C564973|http://identifiers.org/omim/254960|UMLS:C1850744 http://purl.obolibrary.org/obo/MONDO_0009702 myopathy due to malate-aspartate shuttle defect MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia biolink:Disease mondo UMLS:C1850745|OMIM:254950|MESH:C564974 MESH:C564974|http://identifiers.org/omim/254950|UMLS:C1850745 http://purl.obolibrary.org/obo/MONDO_0009701 myopathy, granulovacuolar lobular, with electrical myotonia MONDO:0009700 Carey-Fineman-Ziter syndrome biolink:Disease mondo ICD9:359.89|OMIM:254940|UMLS:C1850746|MESH:C536102|DOID:0080194|Orphanet:1358|SCTID:429753001|GARD:0003889|ICD10:Q87.0 Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. SNOMEDCT:429753001|http://identifiers.org/omim/254940|UMLS:C1850746|DOID:0080194|ORPHA:1358|MESH:C536102 http://purl.obolibrary.org/obo/MONDO_0009700 Carey-Fineman-Ziter syndrome|congenital nonprogressive myopathy with Moebius and Robin sequences|Carey Fineman Ziter syndrome|CFZ syndrome|CFZS|myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence|Moebius sequence, Robin complex, and hypotonia|Carey-Fineman-Ziter syndrome; CFZS|myopathy-Moebius-Robin syndrome|myopathy, congenital nonprogressive with Moebius and Robin sequences gard_rare|ordo_malformation_syndrome FOODON:00001293 shellfish food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00001293 UBERON:0006585 vestibular organ biolink:AnatomicalEntity mondo An organ that is part of a vestibular system. http://purl.obolibrary.org/obo/UBERON_0006585 balance organ HGNC:4795 H6PD biolink:OntologyClass mondo http://identifiers.org/hgnc/4795 HGNC:4796 HAAO biolink:OntologyClass mondo http://identifiers.org/hgnc/4796 HGNC:4798 HABP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4798 HGNC:4799 HADH biolink:OntologyClass mondo http://identifiers.org/hgnc/4799 HP:0002270 Abnormality of the autonomic nervous system biolink:PhenotypicFeature mondo UMLS:C4025714 An abnormality of the autonomic nervous system. http://purl.obolibrary.org/obo/HP_0002270 NCBITaxon:6340 Annelida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_6340 segmented worms|annelid worms HGNC:2135 SBF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2135 UBERON:0006589 round ligament of uterus biolink:AnatomicalEntity mondo The round ligament of the uterus originates at the uterine horns, in the parametrium. It leaves the pelvis via the deep inguinal ring, passes through the inguinal canal and continues on to the labia majora where its fibers spread and mix with the tissue of the mons pubis[WP]. A fibromuscular band that attaches to the uterus and then passes along the broad ligament, out through the inguinal ring, and into the labium majus[MESH]. http://purl.obolibrary.org/obo/UBERON_0006589 ligamentum teres of uterus|round ligament|round ligament of the uterus|ligamentum teres uteri|Hunter's ligament|ligamentum teres uteri CHEBI:33709 amino acid biolink:ChemicalSubstance mondo A carboxylic acid containing one or more amino groups. http://purl.obolibrary.org/obo/CHEBI_33709 amino acids|Aminokarbonsaeure|Aminosaeure|Aminocarbonsaeure MONDO:0009719 familial atrial myxoma biolink:Disease mondo ICD10:D15.1|SCTID:233855002|UMLS:C1850635|Orphanet:615|MESH:C538262|OMIM:255960|GARD:0000139 ORPHA:615|http://identifiers.org/omim/255960|MESH:C538262|UMLS:C1850635|SNOMEDCT:233855002 http://purl.obolibrary.org/obo/MONDO_0009719 intracardiac myxoma|MYXOMA, intracardiac|atrial Myxoma, familial ordo_disease|gard_rare MONDO:0009718 myxedema biolink:Disease mondo ICD10:E03.9|DOID:11634|OMIM:255900|NCIT:C34834|UMLS:C0027145|EFO:1001055|MedDRA:10028663|MESH:D009230|SCTID:43153006 A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance. NCIT:C34834|http://identifiers.org/omim/255900|DOID:11634|UMLS:C0027145|SNOMEDCT:43153006|MESH:D009230 http://purl.obolibrary.org/obo/MONDO_0009718 myxedema MONDO:0009717 Schwartz-Jampel syndrome biolink:Disease mondo UMLS:C0036391|ICD10:G71.1|Orphanet:800|SCTID:29145002|ICD9:759.89|ICD10:Q78.8|NCIT:C35008|GARD:0000250|DOID:0090005|OMIM:255800 Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities. UMLS:C0036391|DOID:0090005|ORPHA:800|SNOMEDCT:29145002|http://identifiers.org/omim/255800|NCIT:C35008 http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome, type 1; SJS1|Schwartz-Jampel syndrome, type 1|Catel-Hempel type dysostosis enchondralis metaepiphysaria|Schwartz-Jampel-Aberfeld syndrome|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities|Osteochondromuscular dystrophy|Schwartz-Jampel syndrome|Schwartz-Jampel syndrome 1|burton syndrome|Aberfeld syndrome|SJS1|SJS|Catel-Hempel syndrome|osteochondromuscular dystrophy|myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities|burton skeletal dysplasia|dysostosis enchondralis metaepiphysaria, Catel-Hempel type|myotonic chondrodystrophy|Sja syndrome|Schwartz-Jampel syndrome type 1|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|Chondrodystrophic myotonia|Schwartz Jampel Aberfeld syndrome|Schwartz Jampel syndrome prototype_pattern|ordo_disease MONDO:0009716 Richieri Costa-da Silva syndrome biolink:Disease mondo Orphanet:3101|ICD10:Q87.8|UMLS:C2930978|OMIM:255710|GARD:0004709|MESH:C535675 MESH:C535675|http://identifiers.org/omim/255710|ORPHA:3101|UMLS:C2930978 http://purl.obolibrary.org/obo/MONDO_0009716 myotonia-intellectual disability-skeletal anomalies syndrome|myotonia with skeletal abnormalities and mental retardation|Richieri Costa Da Silva syndrome|myotonia with skeletal abnormalities and intellectual disability ordo_malformation_syndrome|gard_rare MONDO:0009715 myotonia congenita, autosomal recessive biolink:Disease mondo UMLS:C0751360|OMIM:255700 Autosomal recessive form of myotonia congenita. UMLS:C0751360|http://identifiers.org/omim/255700 http://purl.obolibrary.org/obo/MONDO_0009715 autosomal recessive myotonia congenita|myotonia, generalized|Becker disease|myotonia congenita, autosomal recessive MONDO:0009714 myosclerosis biolink:Disease mondo SCTID:763895001|OMIM:255600|Orphanet:289380|ICD10:G71.8|MESH:C564968|MedDRA:10064584 Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. MEDDRA:10064584|http://identifiers.org/omim/255600|MESH:C564968|ORPHA:289380|UMLS:C1611706|SNOMEDCT:763895001 http://purl.obolibrary.org/obo/MONDO_0009714 congenital myosclerosis, Löwenthal type|congenital myosclerosis, LC6wenthal type|myopathy, myosclerotic|myosclerosis, autosomal recessive|myosclerosis, congenital, of Lowenthal ordo_disease MONDO:0009713 MYP18 biolink:Disease mondo MESH:C567606|UMLS:C2749509|OMIM:255500 http://identifiers.org/omim/255500|MESH:C567606|UMLS:C2749509 http://purl.obolibrary.org/obo/MONDO_0009713 myopia 18, autosomal recessive; MYP18|MYP18|myopia 18, autosomal recessive MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia biolink:Disease mondo Orphanet:98905|UMLS:C1850674|NCIT:C150608|OMIM:255320|ICD10:G71.2|GARD:0010316 An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity. ORPHA:98905|http://identifiers.org/omim/255320|UMLS:C1850674|NCIT:C150608 http://purl.obolibrary.org/obo/MONDO_0009712 multicore myopathy|multicore myopathy with external ophthalmoplegia|minicore myopathy with external ophthalmoplegia|multiminicore disease with external ophthalmoplegia|minicore myopathy, antenatal onset, with arthrogryposis|minicore myopathy|multiminicore myopathy multicore myopathy with external ophthalmoplegia ordo_clinical_subtype MONDO:0009711 congenital fiber-type disproportion myopathy biolink:Disease mondo GARD:0006161|OMIM:255310|ICD10:G71.2|NCIT:C120046|UMLS:C0546264|Orphanet:2020 A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur. http://identifiers.org/omim/255310|UMLS:C0546264|ORPHA:2020|NCIT:C120046 http://purl.obolibrary.org/obo/MONDO_0009711 myopathy, congenital, with fiber-type disproportion; CFTD|congenital myopathy with fibre type disproportion|CFTD|myopathy, congenital with fiber-type disproportion|fiber-type disproportion myopathy, congenital|congenital fiber type disproportion|congenital Fiber-type disproportion|congenital myopathy with fiber type disproportion|CFTDM|congenital Fiber-type disproportion|myopathy, congenital, with fiber-type disproportion ordo_disease CHEBI:33702 polyatomic cation biolink:ChemicalSubstance mondo A cation consisting of more than one atom. http://purl.obolibrary.org/obo/CHEBI_33702 polyatomic cations MONDO:0009710 myotonia congenita biolink:Disease mondo SCTID:57938005|Orphanet:614|ICD10:G71.12|NCIT:C84912|ICD10:G71.1|MESH:D009224|GARD:0012301|OMIM:255300|DOID:2106|UMLS:C0027127|MedDRA:10028655|MedDRA:10043461|ICD9:359.22 Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. http://identifiers.org/omim/255300|DOID:2106|SNOMEDCT:57938005|MEDDRA:10028655|MEDDRA:10043461|NCIT:C84912|UMLS:C0027127|MESH:D009224|UMLS:C2936781|ORPHA:614 http://purl.obolibrary.org/obo/MONDO_0009710 Thomsen's disease|myopathy, congenital|myotonia congenita|Thomsen and Becker disease|congenital myotonia, autosomal dominant form|batten-Turner congenital myopathy|Thomsen disease ordo_disease CHEBI:33703 amino-acid cation biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33703 amino acid cation|amino-acid cations|amino-acid cation CHEBI:33704 alpha-amino acid biolink:ChemicalSubstance mondo An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acids|Amino acids|alpha-amino acid|Amino acid|alpha-amino carboxylic acids NCBITaxon:1535325 Candida/Lodderomyces clade organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1535325 CHEBI:33708 amino-acid residue biolink:ChemicalSubstance mondo When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue. http://purl.obolibrary.org/obo/CHEBI_33708 amino-acid residues|amino-acid residue|amino acid residue UBERON:0006574 pectinate line biolink:AnatomicalEntity mondo The pectinate line (anocutaneous line, dentate line, anorectal junction) is a line which divides the upper 2/3rds and lower 1/3rd of the anal canal. Developmentally, this line represents the hindgut-proctodeum junction. It is an important anatomical landmark, and several distinctions can be made based upon the location of a structure relative to this line: http://purl.obolibrary.org/obo/UBERON_0006574 linea pectinata canalis analis|Hilton's 'white line'|pectinate line of anal canal|linea anocutanea|site of anal membrane|recto-anal junction|dentate line NCBITaxon:1535326 Candida organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1535326 Candida CHEBI:33700 proteinogenic amino-acid residue biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33700 common amino acid residues|canonical amino-acid residue|canonical amino-acid residues|proteinogenic amino-acid residues|standard amino-acid residues|standard amino acid residues HP:0100639 Erectile dysfunction biolink:PhenotypicFeature mondo UMLS:C4022003 A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. http://purl.obolibrary.org/obo/HP_0100639 Erectile abnormalities|Abnormal erection HGNC:2148 CNGA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2148 NCBITaxon:78536 Euphyllophyta organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_78536 euphyllophytes MONDO:0044098 ovarian ectopic pregnancy biolink:Disease mondo NCIT:C92945|MESH:D065172|SCTID:9899009 An abnormal pregnancy in which the conception is implanted on the ovary. MESH:D065172|NCIT:C92945|SNOMEDCT:9899009 http://purl.obolibrary.org/obo/MONDO_0044098 ovarian Pregnancies|ovarian pregnancy|ovary ectopic pregnancy|ectopic pregnancy of ovary|Pregnancies, ovarian MONDO:0044092 collagenous sprue biolink:Disease mondo SCTID:61738006|NCIT:C45426|UMLS:C0341299|MESH:D064068 A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal. NCIT:C45426|UMLS:C0341299|MESH:D064068|SNOMEDCT:61738006 http://purl.obolibrary.org/obo/MONDO_0044092 Sprues, collagenous|non-gluten sensitive enteropathy syndrome|collagenous Sprues|collagenous enteropathy syndrome|collagenous sprue|sprue, collagenous|collagenous enteropathy|non-gluten intolerance syndrome GO:0005578 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0005578 GO:0005579 membrane attack complex biolink:OntologyClass mondo A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow. http://purl.obolibrary.org/obo/GO_0005579 TCC|membrane attack complex protein beta2 chain|MAC|membrane attack complex protein alphaM chain|terminal complement complex GO:0005576 extracellular region biolink:OntologyClass mondo The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/GO_0005576 extracellular GO:0005575 cellular_component biolink:OntologyClass mondo A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome). http://purl.obolibrary.org/obo/GO_0005575 cell or subcellular entity|cellular component|subcellular entity GO:0005589 collagen type VI trimer biolink:OntologyClass mondo A collagen heterotrimer containing type VI alpha chains in alpha1(VI)alpha2(VI)alpha3(VI) trimers; type VI collagen triple helices associate to form beaded fibrils. http://purl.obolibrary.org/obo/GO_0005589 GO:0030521 androgen receptor signaling pathway biolink:OntologyClass mondo Any series of molecular signals generated as a consequence of an androgen binding to its receptor. http://purl.obolibrary.org/obo/GO_0030521 androgen receptor signalling pathway GO:0030522 intracellular receptor signaling pathway biolink:OntologyClass mondo Any series of molecular signals initiated by a ligand binding to an receptor located within a cell. http://purl.obolibrary.org/obo/GO_0030522 intracellular receptor mediated signaling pathway|intracellular receptor-mediated signaling pathway|intracellular receptor-mediated signalling pathway GO:0005585 collagen type II trimer biolink:OntologyClass mondo A collagen homotrimer of alpha1(II) chains; type II collagen triple helices associate to form fibrils. http://purl.obolibrary.org/obo/GO_0005585 GO:0005583 fibrillar collagen trimer biolink:OntologyClass mondo Any triple helical collagen trimer that forms fibrils. http://purl.obolibrary.org/obo/GO_0005583 GO:0005581 collagen trimer biolink:OntologyClass mondo A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. http://purl.obolibrary.org/obo/GO_0005581 HP:0004841 Reduced factor XII activity biolink:PhenotypicFeature mondo UMLS:C0015526|SNOMEDCT_US:46981006|MSH:D005175 Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. http://purl.obolibrary.org/obo/HP_0004841 Factor XII deficiency|Hageman factor deficiency CHEBI:18186 tyrosine biolink:ChemicalSubstance mondo An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring. http://purl.obolibrary.org/obo/CHEBI_18186 Tyrosin|2-amino-3-(4-hydroxyphenyl)propanoic acid|2-Amino-3-(p-hydroxyphenyl)propionic acid|tyrosine|Tyrosine|Tyr|tirosina|Y|3-(p-Hydroxyphenyl)alanine GO:0030518 intracellular steroid hormone receptor signaling pathway biolink:OntologyClass mondo A series of molecular signals generated as a consequence of a intracellular steroid hormone receptor binding to one of its physiological ligands. http://purl.obolibrary.org/obo/GO_0030518 steroid hormone receptor signalling pathway|steroid hormone receptor signaling pathway MONDO:0020096 autosomal recessive isolated diffuse palmoplantar keratoderma biolink:Disease mondo Orphanet:98356|UMLS:CN229269|ICD10:Q82.8 Autosomal recessive form of isolated diffuse palmoplantar keratoderma. UMLS:CN229269|ORPHA:98356 http://purl.obolibrary.org/obo/MONDO_0020096 autosomal recessive isolated diffuse palmoplantar hyperkeratosis|isolated diffuse palmoplantar keratoderma, autosomal recessive ordo_group_of_disorders MONDO:0020095 autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature biolink:Disease mondo Orphanet:98353|UMLS:CN206999|ICD10:Q82.8 Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature. ORPHA:98353|UMLS:CN206999 http://purl.obolibrary.org/obo/MONDO_0020095 autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal dominant|autosomal dominant disease with focal palmoplantar keratoderma as a major feature ordo_group_of_disorders|obsoletion_candidate MONDO:0020094 autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature biolink:Disease mondo Orphanet:98352|UMLS:CN206998|ICD10:Q82.8 Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature. ORPHA:98352|UMLS:CN206998 http://purl.obolibrary.org/obo/MONDO_0020094 autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature|disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant ordo_group_of_disorders|obsoletion_candidate MONDO:0020093 autosomal dominant isolated diffuse palmoplantar keratoderma biolink:Disease mondo ICD10:Q82.8|Orphanet:98349|UMLS:CN229268 Autosomal dominant form of isolated diffuse palmoplantar keratoderma. ORPHA:98349|UMLS:CN229268 http://purl.obolibrary.org/obo/MONDO_0020093 isolated diffuse palmoplantar keratoderma, autosomal dominant|autosomal dominant isolated diffuse palmoplantar hyperkeratosis ordo_group_of_disorders MONDO:0020092 rare idiopathic male infertility biolink:Disease mondo ICD10:N46|UMLS:CN227777|Orphanet:98345 UMLS:CN227777|ORPHA:98345 http://purl.obolibrary.org/obo/MONDO_0020092 ordo_disease|obsoletion_candidate MONDO:0020091 male infertility due to obstructive azoospermia biolink:Disease mondo ICD10:N46|Orphanet:98343 ORPHA:98343 http://purl.obolibrary.org/obo/MONDO_0020091 Male infertility due to impaired sperm transport ordo_group_of_disorders MONDO:0020090 male infertility due to gonadal dysgenesis biolink:Disease mondo Orphanet:98313 ORPHA:98313 http://purl.obolibrary.org/obo/MONDO_0020090 Male infertility due to testicular dysgenesis ordo_group_of_disorders MONDO:0020099 inherited sideroblastic anemia biolink:Disease mondo Orphanet:98362|ICD10:D64.0|OMIMPS:300751 ORPHA:98362 http://purl.obolibrary.org/obo/MONDO_0020099 constitutional sideroblastic anemia ordo_group_of_disorders MONDO:0020098 constitutional anemia due to iron metabolism disorder biolink:Disease mondo ICD10:D50.8|Orphanet:98360|UMLS:CN227778 UMLS:CN227778|ORPHA:98360 http://purl.obolibrary.org/obo/MONDO_0020098 ordo_group_of_disorders MONDO:0020097 autosomal recessive disease with focal palmoplantar keratoderma as a major feature biolink:Disease mondo ICD10:Q82.8|UMLS:CN207000|Orphanet:98357 Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature. ORPHA:98357|UMLS:CN207000 http://purl.obolibrary.org/obo/MONDO_0020097 disease with focal palmoplantar keratoderma as a major feature, autosomal recessive|autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature obsoletion_candidate|ordo_group_of_disorders UBERON:0006518 right lung lobe biolink:AnatomicalEntity mondo A lobe of lung that is part of a right lung. http://purl.obolibrary.org/obo/UBERON_0006518 lobe of right lung|lobe of the right lung PATO:0000048 hardness biolink:OntologyClass mondo A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced http://purl.obolibrary.org/obo/PATO_0000048 impenetrability|toughness UBERON:0006526 right lung alveolar system biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006526 UBERON:0006525 left lung alveolar system biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0006525 UBERON:0006524 alveolar system biolink:AnatomicalEntity mondo System pertaining to a bronchus and alveoli. http://purl.obolibrary.org/obo/UBERON_0006524 bronchoalveolar system|pulmonary alveolar system BSPO:0000121 in_right_side_of biolink:OntologyClass mondo X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://purl.obolibrary.org/obo/BSPO_0000121 BSPO:0000120 in_left_side_of biolink:OntologyClass mondo X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://purl.obolibrary.org/obo/BSPO_0000120 BSPO:0000123 in_anterior_side_of biolink:OntologyClass mondo X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. http://purl.obolibrary.org/obo/BSPO_0000123 BSPO:0000122 in_posterior_side_of biolink:OntologyClass mondo X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. http://purl.obolibrary.org/obo/BSPO_0000122 BSPO:0000125 in_distal_side_of biolink:OntologyClass mondo X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. http://purl.obolibrary.org/obo/BSPO_0000125 BSPO:0000124 in_proximal_side_of biolink:OntologyClass mondo X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. http://purl.obolibrary.org/obo/BSPO_0000124 BSPO:0000126 in_lateral_side_of biolink:OntologyClass mondo X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://purl.obolibrary.org/obo/BSPO_0000126 MONDO:0044067 candidiasis, invasive biolink:Disease mondo EFO:1001282|NCIT:C116813|MESH:D058365 A fungal infection by any of the Candida species in a sterile body compartment. MESH:D058365|NCIT:C116813 http://purl.obolibrary.org/obo/MONDO_0044067 invasive candidiases|invasive candidiasis|candidiases, invasive PATO:0000051 morphology biolink:OntologyClass mondo A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. http://purl.obolibrary.org/obo/PATO_0000051 HP:0002224 Woolly hair biolink:PhenotypicFeature mondo UMLS:C4072836|UMLS:C4072835|UMLS:C4073292|MEDDRA:10048017|UMLS:C0343073|SNOMEDCT_US:52564001 The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. http://purl.obolibrary.org/obo/HP_0002224 Wooly hair|Nappy hair texture|Kinked hair|Kinky hair texture|Afro-textured hair hposlim_core PATO:0000052 shape biolink:OntologyClass mondo A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). http://purl.obolibrary.org/obo/PATO_0000052 relational shape quality HP:0002227 White eyelashes biolink:PhenotypicFeature mondo UMLS:C1836736|UMLS:C4280578 White color (lack of pigmentation) of the eyelashes. http://purl.obolibrary.org/obo/HP_0002227 Pale eyelashes|Blonde eyelashes|White eyelashes|Grey eyelashes|Depigmented eyelashes HP:0002226 White eyebrow biolink:PhenotypicFeature mondo UMLS:C4280579|UMLS:C1836737|UMLS:C4280580 White color (lack of pigmentation) of the eyebrow. http://purl.obolibrary.org/obo/HP_0002226 Pale eyebrow|White eyebrow|Blonde eyebrow|Grey eyebrow|Hypopigmented eyebrow|Depigmented eyebrow hposlim_core HGNC:4702 GYPA biolink:OntologyClass mondo http://identifiers.org/hgnc/4702 CHEBI:57756 sphingosine(1+) biolink:ChemicalSubstance mondo The cationic sphingoid resulting from the protonation of the amino group of sphingosine. http://purl.obolibrary.org/obo/CHEBI_57756 sphing-4-enine|(2S,3R,4E)-1,3-dihydroxyoctadec-4-en-2-aminium GO:0005515 protein binding biolink:OntologyClass mondo Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). http://purl.obolibrary.org/obo/GO_0005515 glycoprotein binding|protein amino acid binding MONDO:0044070 candidemia biolink:Disease mondo EFO:1001311|MESH:D058387|UMLS:C0877445|SCTID:432261003 A form of invasive candidiasis where species of candida are present in the blood. UMLS:C0877445|SNOMEDCT:432261003|MESH:D058387 http://purl.obolibrary.org/obo/MONDO_0044070 candidemia|Candidemias HGNC:4703 GYPB biolink:OntologyClass mondo http://identifiers.org/hgnc/4703 PATO:0000069 deviation(from_normal) biolink:OntologyClass mondo A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. http://purl.obolibrary.org/obo/PATO_0000069 HGNC:4704 GYPC biolink:OntologyClass mondo http://identifiers.org/hgnc/4704 HGNC:4706 GYS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/4706 HGNC:4707 GYS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/4707 MONDO:0044079 cardio-renal syndrome biolink:Disease mondo NCIT:C123225|SCTID:445236007|MESH:D059347|UMLS:C2242703|EFO:1001262 A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. SNOMEDCT:445236007|MESH:D059347|NCIT:C123225|UMLS:C2242703 http://purl.obolibrary.org/obo/MONDO_0044079 cardiorenal syndrome|cardio renal syndrome|syndromes, cardio-renal|syndrome, cardio-renal|Reno-Cardiac syndromes|cardiorenal syndromes|Reno Cardiac syndrome|syndrome, Renocardiac|cardio-renal syndromes|syndromes, Renocardiac|Reno-Cardiac syndrome|syndrome, cardiorenal|Renocardiac syndrome|syndromes, cardiorenal|Renocardiac syndromes|syndromes, Reno-Cardiac|syndrome, Reno-Cardiac NCBITaxon:91561 Artiodactyla organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_91561 even-toed ungulates|Cetartiodactyla|whales, hippos, ruminants, pigs, camels etc. PATO:0000068 qualitative biolink:OntologyClass mondo http://purl.obolibrary.org/obo/PATO_0000068 HGNC:4713 H19 biolink:OntologyClass mondo http://identifiers.org/hgnc/4713 GO:0005518 collagen binding biolink:OntologyClass mondo Interacting selectively and non-covalently with collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). http://purl.obolibrary.org/obo/GO_0005518 PATO:0000060 spatial pattern biolink:OntologyClass mondo A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts. http://purl.obolibrary.org/obo/PATO_0000060 pattern|distribution BSPO:0000100 proximal_to biolink:OntologyClass mondo x proximal_to y iff x is closer to the point of attachment with the body than y. http://purl.obolibrary.org/obo/BSPO_0000100 BSPO:0000102 ventral_to biolink:OntologyClass mondo x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/BSPO_0000102 MONDO:0044083 alternariosis biolink:Disease mondo SCTID:238436005|EFO:1001893|MESH:D060487 Opportunistic fungal infection by a member of Alternaria genus. MESH:D060487|SNOMEDCT:238436005 http://purl.obolibrary.org/obo/MONDO_0044083 cutaneous alternariosis|dermal Alternariosis|subcutaneous Alternariosis|cutaneous Alternariosis|Alternariosis, cutaneous|Alternarioses|Alternarioses, cutaneous|Alternarioses, subcutaneous|Alternarioses, dermal|dermal Alternarioses|cutaneous Alternarioses|subcutaneous Alternarioses|Alternariosis, dermal|Alternariosis, subcutaneous HP:0002209 Sparse scalp hair biolink:PhenotypicFeature mondo UMLS:C1873509|UMLS:C1857042 Decreased number of hairs per unit area of skin of the scalp. http://purl.obolibrary.org/obo/HP_0002209 Sparse scalp hair|Reduced/lack of hair on scalp|Scalp hypotrichosis|Decreased number of scalp follicles|sparse-absent scalp hair|Reduction in the number of scalp follicles|Sparse, thin scalp hair|Thin scalp hair|Scalp hair, thinning|Hypotrichosis on scalp BSPO:0000107 deep_to biolink:OntologyClass mondo Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. http://purl.obolibrary.org/obo/BSPO_0000107 BSPO:0000108 superficial_to biolink:OntologyClass mondo Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. http://purl.obolibrary.org/obo/BSPO_0000108 HP:0002202 Pleural effusion biolink:PhenotypicFeature mondo UMLS:C0032227|SNOMEDCT_US:60046008|MSH:D010996 The presence of an excessive amount of fluid in the pleural cavity. http://purl.obolibrary.org/obo/HP_0002202 Fluid around lungs HP:0002205 Recurrent respiratory infections biolink:PhenotypicFeature mondo UMLS:C3806482 An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. http://purl.obolibrary.org/obo/HP_0002205 Frequent respiratory infections|respiratory infections, recurrent|Multiple respiratory infections|Susceptibility to respiratory infections|Recurrent respiratory infections HP:0002204 Pulmonary embolism biolink:PhenotypicFeature mondo SNOMEDCT_US:59282003|UMLS:C0034065|MSH:D011655 An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. http://purl.obolibrary.org/obo/HP_0002204 Blood clot in artery of lung PATO:0000070 amount biolink:OntologyClass mondo The number of entities of this type that are part of the whole organism. http://purl.obolibrary.org/obo/PATO_0000070 quantitative|count in organism|presence|number|presence or absence in organism CHEBI:33780 beryllium molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33780 beryllium compounds|beryllium molecular entities NCBITaxon:1781 Mycobacterium marinum organism taxon mondo PMID:12089250|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1781 Mycobacterium balnei|Mycobacterium platypoecilus UBERON:0014621 cervical spinal cord ventral horn biolink:AnatomicalEntity mondo A ventral horn of spinal cord that is part of a cervical spinal cord. http://purl.obolibrary.org/obo/UBERON_0014621 cervical spinal cord ventral horn|cervical spinal cord anterior horn NCBITaxon:1789 Mycobacterium xenopi organism taxon mondo PMID:13641655|GC_ID:11|PMID:30186281 http://purl.obolibrary.org/obo/NCBITaxon_1789 Mycobacterium xenopei|Mycobacterium xenopi Schwabacher 1959 (Approved Lists) emend. Nouioui et al. 2018 CHEBI:35498 diuretic biolink:ChemicalSubstance mondo An agent that promotes the excretion of urine through its effects on kidney function. http://purl.obolibrary.org/obo/CHEBI_35498 diuretics CHEBI:60466 peptide zwitterion biolink:ChemicalSubstance mondo Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. http://purl.obolibrary.org/obo/CHEBI_60466 peptide zwitterions UBERON:0014614 cervical spinal cord white matter biolink:AnatomicalEntity mondo A white matter of spinal cord that is part of a cervical spinal cord. http://purl.obolibrary.org/obo/UBERON_0014614 cervical spinal cord white matter HGNC:9508 PSEN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9508 UBERON:0014615 accessory nerve root biolink:AnatomicalEntity mondo A nerve root that is part of a accessory XI nerve. http://purl.obolibrary.org/obo/UBERON_0014615 cranial part of the accessory nerve|cranial part of accessory nerve|nerve XI (cranialis)|bulbar accessory nerve|radices craniales nervi accessorii|root of accessory nerve|pars vagalis of nervus accessorius|c11n|cranial accessory nerve|cranial portion of eleventh cranial nerve|internal branch of accessory nerve|accessory portion of spinal accessory nerve|accessory nerve root|bulbar part of accessory nerve HGNC:9509 PSEN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9509 CHEBI:35493 antipyretic biolink:ChemicalSubstance mondo A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever. http://purl.obolibrary.org/obo/CHEBI_35493 anti-pyretic ECTO:0000750 biomarker exposure biolink:OntologyClass mondo An exposure to biomarker. http://purl.obolibrary.org/obo/ECTO_0000750 exposure to biomarker SO:0001483 SNV biolink:SequenceFeature mondo SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. http://purl.obolibrary.org/obo/SO_0001483 single nucleotide variant PATO:0000499 decreased duration biolink:OntologyClass mondo A duration quality of a process which is relatively low. http://purl.obolibrary.org/obo/PATO_0000499 shortened period|low period|fast time|decreased period|decreased time UBERON:0014610 thoracic spinal cord ventral horn biolink:AnatomicalEntity mondo A ventral horn of spinal cord that is part of a thoracic spinal cord. http://purl.obolibrary.org/obo/UBERON_0014610 thoracic spinal cord anterior horn|thoracic spinal cord ventral horn PATO:0000498 increased duration biolink:OntologyClass mondo A duration quality of a process which is relatively high. http://purl.obolibrary.org/obo/PATO_0000498 prolonged period|chronic|increased period|high time|increased time|slow time UBERON:0014613 cervical spinal cord gray matter biolink:AnatomicalEntity mondo A gray matter of spinal cord that is part of a cervical spinal cord. http://purl.obolibrary.org/obo/UBERON_0014613 cervical spinal cord gray matter PCO:0000018 single-species collection of organisms biolink:OntologyClass mondo A material entity that has as parts two or more organisms, viruses, or viroids of the same species and no members of any other species. http://purl.obolibrary.org/obo/PCO_0000018 UBERON:0002618 root of trochlear nerve biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0002618 trochlear nerve root|central part of trochlear nerve|trochlear nerve/root|4nf|trochlear nerve tract|trochlear nerve fibers|trochlear nerve or its root|fibrae nervi trochlearis NCBITaxon:1763 Mycobacterium organism taxon mondo PMID:7907223|PMID:16014496|PMID:1883713|PMID:7547304|PMID:2275850|PMID:8863452|PMID:1380284|PMID:29497402|PMID:1581193|GC_ID:11|PMID:7547284 http://purl.obolibrary.org/obo/NCBITaxon_1763 ECTO:0000724 genotoxin exposure biolink:OntologyClass mondo An exposure to genotoxin. http://purl.obolibrary.org/obo/ECTO_0000724 exposure to genotoxin GO:0000820 regulation of glutamine family amino acid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. http://purl.obolibrary.org/obo/GO_0000820 regulation of glutamine family amino acid metabolism ECTO:0000726 allergen exposure biolink:OntologyClass mondo An exposure to allergen. http://purl.obolibrary.org/obo/ECTO_0000726 exposure to allergen NCBITaxon:1760 Actinobacteria organism taxon mondo PMID:10028260|PMID:11321122|PMID:19244447|PMID:28840812|GC_ID:11|PMID:30186281|PMID:11155976 http://purl.obolibrary.org/obo/NCBITaxon_1760 high G+C Gram-positive bacteria|Actinobacteria|high GC Gram+|High GC gram-positive bacteria|Actinomycetes ECTO:0000725 carcinogenic agent exposure biolink:OntologyClass mondo An exposure to carcinogenic agent. http://purl.obolibrary.org/obo/ECTO_0000725 exposure to carcinogenic agent UBERON:0002616 regional part of brain biolink:AnatomicalEntity mondo Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. http://purl.obolibrary.org/obo/UBERON_0002616 anatomical structure of brain|neuroanatomical region|brain anatomical structure|brain biological structure|brain part|segment of brain|biological structure of brain|neuraxis segment NCBITaxon:1762 Mycobacteriaceae organism taxon mondo PMID:19244447|PMID:29497402|GC_ID:11|PMID:30186281 http://purl.obolibrary.org/obo/NCBITaxon_1762 NCBITaxon:1769 Mycobacterium leprae organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1769 Bacillus leprae CHEBI:35475 non-steroidal anti-inflammatory drug biolink:ChemicalSubstance mondo An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. http://purl.obolibrary.org/obo/CHEBI_35475 NSAID|non-steroidal anti-inflammatory agent|non-steroidal anti-inflammatory drugs|NSAIDs CHEBI:35479 alkali metal salt biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35479 alkali metal salts CHEBI:35470 central nervous system drug biolink:ChemicalSubstance mondo A class of drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system. http://purl.obolibrary.org/obo/CHEBI_35470 central nervous system agents|CNS agent|CNS drugs CHEBI:35472 anti-inflammatory drug biolink:ChemicalSubstance mondo A substance that reduces or suppresses inflammation. http://purl.obolibrary.org/obo/CHEBI_35472 antiinflammatory agent|antiinflammatory drugs|antiinflammatory drug|anti-inflammatory drugs CHEBI:35471 psychotropic drug biolink:ChemicalSubstance mondo A loosely defined grouping of drugs that have effects on psychological function. http://purl.obolibrary.org/obo/CHEBI_35471 psychotropic drugs|psychoactive agent|psychoactive drugs|psychopharmaceuticals ECTO:0000730 neurotoxin exposure biolink:OntologyClass mondo An exposure to neurotoxin. http://purl.obolibrary.org/obo/ECTO_0000730 exposure to neurotoxin NCBITaxon:34395 Chaetothyriales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34395 black yeasts PCO:0000000 collection of organisms biolink:OntologyClass mondo A material entity that consists of two or more organisms, viruses, or viroids. http://purl.obolibrary.org/obo/PCO_0000000 GO:0048812 neuron projection morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. http://purl.obolibrary.org/obo/GO_0048812 neurite morphogenesis|neurite formation|neurite biosynthesis|neurite growth NCBITaxon:34390 Epidermophyton organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34390 PCO:0000002 ecological community biolink:OntologyClass mondo A multi-species collection of organisms of at least two different species, living in a particular area. Must have at least two populations of different species as members. http://purl.obolibrary.org/obo/PCO_0000002 NCBITaxon:1773 Mycobacterium tuberculosis organism taxon mondo GC_ID:11|PMID:29205127 http://purl.obolibrary.org/obo/NCBITaxon_1773 Mycobacterium tuberculosis typus humanus|Mycobacterium tuberculosis var. hominis|Bacillus tuberculosis|Mycobacterium tuberculosis variant tuberculosis|Bacterium tuberculosis ECTO:0000738 ligand exposure biolink:OntologyClass mondo An exposure to ligand. http://purl.obolibrary.org/obo/ECTO_0000738 exposure to ligand PCO:0000001 population of organisms biolink:OntologyClass mondo A collection of organisms, all of the same species, that live in the same place. http://purl.obolibrary.org/obo/PCO_0000001 NCBITaxon:227984 SARS coronavirus Tor2 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_227984 HGNC:9535 PSMA6 biolink:OntologyClass mondo http://identifiers.org/hgnc/9535 CHEBI:35488 central nervous system depressant biolink:ChemicalSubstance mondo A loosely defined group of drugs that tend to reduce the activity of the central nervous system. http://purl.obolibrary.org/obo/CHEBI_35488 CNS depressants|central nervous system depressants UBERON:0002610 cochlear nuclear complex biolink:AnatomicalEntity mondo The cochlear nuclei consist of: (a) the dorsal cochlear nucleus, corresponding to the tuberculum acusticum on the dorso-lateral surface of the inferior peduncle; and (b) the ventral or accessory cochlear nucleus, placed between the two divisions of the nerve, on the ventral aspect of the inferior peduncle. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002610 nuclei cochleares|cochlear nuclei CHEBI:35481 non-narcotic analgesic biolink:ChemicalSubstance mondo A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors. http://purl.obolibrary.org/obo/CHEBI_35481 GO:0048817 negative regulation of hair follicle maturation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle maturation. http://purl.obolibrary.org/obo/GO_0048817 downregulation of hair follicle maturation|down regulation of hair follicle maturation|inhibition of hair follicle maturation|down-regulation of hair follicle maturation CHEBI:35480 analgesic biolink:ChemicalSubstance mondo An agent capable of relieving pain without the loss of consciousness or without producing anaesthesia. In addition, analgesic is a role played by a compound which is exhibited by a capability to cause a reduction of pain symptoms. http://purl.obolibrary.org/obo/CHEBI_35480 GO:0048818 positive regulation of hair follicle maturation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of hair follicle maturation. http://purl.obolibrary.org/obo/GO_0048818 activation of hair follicle maturation|up-regulation of hair follicle maturation|upregulation of hair follicle maturation|up regulation of hair follicle maturation|stimulation of hair follicle maturation GO:0048819 regulation of hair follicle maturation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of hair follicle maturation. http://purl.obolibrary.org/obo/GO_0048819 GO:0048820 hair follicle maturation biolink:OntologyClass mondo A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state. http://purl.obolibrary.org/obo/GO_0048820 UBERON:0000017 exocrine pancreas biolink:AnatomicalEntity mondo The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. http://purl.obolibrary.org/obo/UBERON_0000017 exocrine part of pancreas|pars exocrina pancreatis|exocrine pancreas|exocrine component of pancreas UBERON:0000019 camera-type eye biolink:AnatomicalEntity mondo An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. http://purl.obolibrary.org/obo/UBERON_0000019 eyes|camera-type eye plus associated structures|orbital region|regio orbitalis|eye|vertebrate eye|orbital part of face HP:0031348 Dextrotransposition of the great arteries biolink:PhenotypicFeature mondo Fyler:0700|Fyler:700 A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. http://purl.obolibrary.org/obo/HP_0031348 D-TGA|D-loop transposition of the great arteries UBERON:0000025 tube biolink:AnatomicalEntity mondo Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. http://purl.obolibrary.org/obo/UBERON_0000025 duct|anatomical tube UBERON:0000026 appendage biolink:AnatomicalEntity mondo Major subdivision of an organism that protrudes from the body[DOS, CARO]. http://purl.obolibrary.org/obo/UBERON_0000026 appendages|extremitaet|limbs/digits/tail|extremity UBERON:0000020 sense organ biolink:AnatomicalEntity mondo An organ that is capable of transducing sensory stimulus to the nervous system. http://purl.obolibrary.org/obo/UBERON_0000020 organ of sensory organ system|Sinnesorgan|sensor|sense organ system organ|sensory system organ|sensory organ|sensillum|sensory organ system organ|organ of sense organ system|organ of sensory system HGNC:9545 PSMB8 biolink:OntologyClass mondo http://identifiers.org/hgnc/9545 UBERON:0002682 abducens nucleus biolink:AnatomicalEntity mondo Nucleus located beneath the floor of the 4th ventricle in the pontine tegmentum, containing motor neurons innervating the lateral rectus muscle of the eye (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533) http://purl.obolibrary.org/obo/UBERON_0002682 abducens nerve nucleus|abducens motor nuclei|nucleus nervi abducentis|nucleus abducens|abducens motor nucleus|nVI|abducens nucleus proper|nucleus nervi abducentis|nucleus of abducens nerve (VI)|nucleus of abducens nerve|abducent nucleus|abducens VI nucleus|motor nucleus VI|sixth cranial nerve nucleus UBERON:0000021 cutaneous appendage biolink:AnatomicalEntity mondo Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. http://purl.obolibrary.org/obo/UBERON_0000021 skin appendage|epidermal appendage|epidermal growth NCBITaxon:1783257 PVC group organism taxon mondo PMID:23851394|GC_ID:11|PMID:16704931|PMID:24185849 http://purl.obolibrary.org/obo/NCBITaxon_1783257 UBERON:0000006 islet of Langerhans biolink:AnatomicalEntity mondo the clusters of hormone-producing cells that are scattered throughout the pancreas http://purl.obolibrary.org/obo/UBERON_0000006 islets of Langerhans|pancreatic islet|pancreatic insula|island of pancreas|island of Langerhans UBERON:0000007 pituitary gland biolink:AnatomicalEntity mondo The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. http://purl.obolibrary.org/obo/UBERON_0000007 pituitary body|Hp|hypophysis cerebri|hypophysis|glandula pituitaria|pituitary UBERON:0002668 oculomotor nerve root biolink:AnatomicalEntity mondo Initial segment of the occulomotor nerve as it leaves the midbrain. http://purl.obolibrary.org/obo/UBERON_0002668 oculomotor nerve fibers|oculomotor nerve tract|fibrae nervi oculomotorii|root of oculomotor nerve|central part of oculomotor nerve|3nf UBERON:0000009 submucosa biolink:AnatomicalEntity mondo A layer of dense irregular connective tissue that lines organs and supports the mucosa, as well as joins the mucosa to the bulk of underlying smooth muscle. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0000009 submucous layer|submucosa of region of organ|tunica submucosa|submucosa of organ|region of submucosa|tela submucosa|organ submucosa CHEBI:23482 cyclohexanones biolink:ChemicalSubstance mondo Any alicyclic ketone based on a cyclohexane skeleton and its substituted derivatives thereof. http://purl.obolibrary.org/obo/CHEBI_23482 GO:0000819 sister chromatid segregation biolink:OntologyClass mondo The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets. http://purl.obolibrary.org/obo/GO_0000819 UBERON:0014649 white matter of medulla oblongata biolink:AnatomicalEntity mondo A white matter that is part of a medulla oblongata. http://purl.obolibrary.org/obo/UBERON_0014649 white matter of medulla|white substance of medulla|substantia alba medullae oblongatae|medullary white matter UBERON:0000013 sympathetic nervous system biolink:AnatomicalEntity mondo The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]. http://purl.obolibrary.org/obo/UBERON_0000013 sympathetic nervous system|sympathetic part of autonomic division of nervous system|pars sympathica divisionis autonomici systematis nervosi|pars sympathica divisionis autonomici systematis nervosi UBERON:0000014 zone of skin biolink:AnatomicalEntity mondo Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. http://purl.obolibrary.org/obo/UBERON_0000014 region of skin|skin region|skin zone|portion of skin|skin UBERON:0000015 non-material anatomical boundary biolink:AnatomicalEntity mondo A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. http://purl.obolibrary.org/obo/UBERON_0000015 anatomical boundary UBERON:0000016 endocrine pancreas biolink:AnatomicalEntity mondo The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. http://purl.obolibrary.org/obo/UBERON_0000016 pars endocrina pancreatis|endocrine part of pancreas|endocrine pancreas|islets of Langerhans part of pancreas UBERON:0000010 peripheral nervous system biolink:AnatomicalEntity mondo A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. http://purl.obolibrary.org/obo/UBERON_0000010 PNS|pars peripherica|systema nervosum periphericum UBERON:0000011 parasympathetic nervous system biolink:AnatomicalEntity mondo The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia[GO]. http://purl.obolibrary.org/obo/UBERON_0000011 PNS - parasympathetic|parasympathetic part of autonomic division of nervous system|pars parasympathica divisionis autonomici systematis nervosi|pars parasympathica divisionis autonomici systematis nervosi UBERON:0002673 vestibular nuclear complex biolink:AnatomicalEntity mondo Nuclear complex containing the vestibular nuclei. http://purl.obolibrary.org/obo/UBERON_0002673 vestibular nuclei in medulla oblongata|nuclei vestibulares|vestibular nuclei|nuclei vestibulares in medulla oblongata|vestibular nucleus UBERON:0000012 somatic nervous system biolink:AnatomicalEntity mondo Part of peripheral nervous system that includes the somatic parts of the cranial and spinal nerves and their ganglia and the peripheral sensory receptors. http://purl.obolibrary.org/obo/UBERON_0000012 somatic part of peripheral nervous system|somatic nervous system, somatic division|PNS - somatic|somatic peripheral nervous system PCO:0000031 organismal entity biolink:OntologyClass mondo A material entity that is one or more organisms, viruses or viroids. http://purl.obolibrary.org/obo/PCO_0000031 GO:0048844 artery morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. http://purl.obolibrary.org/obo/GO_0048844 arterial morphogenesis|arteriogenesis GO:0048845 venous blood vessel morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of venous blood vessels are generated and organized. Veins are blood vessels that transport blood from the body and its organs to the heart. http://purl.obolibrary.org/obo/GO_0048845 vein morphogenesis|venous morphogenesis HP:0031365 Macular purpura biolink:PhenotypicFeature mondo Purpura that is flat (non-palpable, not raised). http://purl.obolibrary.org/obo/HP_0031365 Flat purpura PATO:0000467 present biolink:OntologyClass mondo A quality inhering in a bearer by virtue of the bearer's existence. http://purl.obolibrary.org/obo/PATO_0000467 present in organism UBERON:0014640 occipital gyrus biolink:AnatomicalEntity mondo A gyrus that is part of a occipital lobe. http://purl.obolibrary.org/obo/UBERON_0014640 gyrus occipitalis UBERON:0014636 thoracic spinal cord gray matter biolink:AnatomicalEntity mondo A gray matter of spinal cord that is part of a thoracic spinal cord. http://purl.obolibrary.org/obo/UBERON_0014636 thoracic spinal cord gray matter PATO:0000461 normal biolink:OntologyClass mondo A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. http://purl.obolibrary.org/obo/PATO_0000461 average UBERON:0014637 thoracic spinal cord white matter biolink:AnatomicalEntity mondo A white matter of spinal cord that is part of a thoracic spinal cord. http://purl.obolibrary.org/obo/UBERON_0014637 thoracic spinal cord white matter UBERON:0014639 frontal sulcus biolink:AnatomicalEntity mondo A sulcus of brain that is part of a frontal cortex. http://purl.obolibrary.org/obo/UBERON_0014639 frontal lobe sulci|frontal lobe sulcus UBERON:0000002 uterine cervix biolink:AnatomicalEntity mondo Lower, narrow portion of the uterus where it joins with the top end of the vagina. http://purl.obolibrary.org/obo/UBERON_0000002 cervix|cervical canal of uterus|cervix of uterus|cervix uteri|canalis cervicis uteri|neck of uterus|cervical canal|uterine cervix|caudal segment of uterus UBERON:0000003 naris biolink:AnatomicalEntity mondo Orifice of the olfactory system. The naris is the route by which odorants enter the olfactory system[MAH]. http://purl.obolibrary.org/obo/UBERON_0000003 UBERON:0000004 nose biolink:AnatomicalEntity mondo The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. http://purl.obolibrary.org/obo/UBERON_0000004 olfactory apparatus|peripheral olfactory organ|nasus|nose|nasal sac|proboscis UBERON:0000005 chemosensory organ biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0000005 chemosensory sensory organ NCBITaxon:685953 Philophthalmus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_685953 PCO:0000029 multi-species collection of organisms biolink:OntologyClass mondo A collection of organisms that consists of two or more organisms from at least two species. http://purl.obolibrary.org/obo/PCO_0000029 UBERON:0000000 processual entity biolink:AnatomicalEntity mondo An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. http://purl.obolibrary.org/obo/UBERON_0000000 GO:0048856 anatomical structure development biolink:OntologyClass mondo The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/GO_0048856 development of an anatomical structure HP:0031375 Refractory biolink:PhenotypicFeature mondo Applies to a sign or symptom that is difficult to treat or cure. http://purl.obolibrary.org/obo/HP_0031375 HGNC:30492 DNAAF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/30492 CHEBI:35442 antiparasitic agent biolink:ChemicalSubstance mondo A substance used to treat or prevent parasitic infections. http://purl.obolibrary.org/obo/CHEBI_35442 antiparasitic drugs|parasiticides|antiparasitics PATO:0000470 increased amount biolink:OntologyClass mondo An amount which is relatively high. http://purl.obolibrary.org/obo/PATO_0000470 supernumerary|accessory|increased|present in greater numbers in organism|increased number GO:0048858 cell projection morphogenesis biolink:OntologyClass mondo The process in which the anatomical structures of a cell projection are generated and organized. http://purl.obolibrary.org/obo/GO_0048858 HGNC:9577 PSPH biolink:OntologyClass mondo http://identifiers.org/hgnc/9577 HGNC:30497 KIF7 biolink:OntologyClass mondo http://identifiers.org/hgnc/30497 CHEBI:35441 antiinfective agent biolink:ChemicalSubstance mondo A substance used in the prophylaxis or therapy of infectious diseases. http://purl.obolibrary.org/obo/CHEBI_35441 anti-infective drugs|anti-infective agents|antiinfective drug|antiinfective agents PATO:0000402 branched biolink:OntologyClass mondo A branchiness quality inhering in a bearer by virtue of the bearer's having branches. http://purl.obolibrary.org/obo/PATO_0000402 ramiform|ramified GO:0034219 carbohydrate transmembrane transport biolink:OntologyClass mondo The process in which a carbohydrate is transported across a membrane. http://purl.obolibrary.org/obo/GO_0034219 carbohydrate membrane transport|transmembrane carbohydrate transport GO:0009260 ribonucleotide biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide anabolism|ribonucleotide biosynthesis|ribonucleotide synthesis|ribonucleotide formation NCBITaxon:526524 Erysipelotrichia organism taxon mondo GC_ID:11|PMID:23606477 http://purl.obolibrary.org/obo/NCBITaxon_526524 GO:0010243 response to organonitrogen compound biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/GO_0010243 response to organic nitrogen GO:0009259 ribonucleotide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolism PATO:0000411 circular biolink:OntologyClass mondo A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. http://purl.obolibrary.org/obo/PATO_0000411 round|rounded GO:0010259 multicellular organism aging biolink:OntologyClass mondo An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700). http://purl.obolibrary.org/obo/GO_0010259 ENVO:0010001 anthropogenic environmental material biolink:OntologyClass mondo Anthropogenic material in or on which organisms may live. http://purl.obolibrary.org/obo/ENVO_0010001 ENVO:0010003 agricultural environmental material biolink:OntologyClass mondo http://purl.obolibrary.org/obo/ENVO_0010003 GO:0010256 endomembrane system organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system. http://purl.obolibrary.org/obo/GO_0010256 endomembrane system organisation|endomembrane organization GO:0009235 cobalamin metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/GO_0009235 vitamin B12 metabolism|vitamin B12 reduction|vitamin B12 metabolic process|cobalamin metabolism HGNC:17494 GJC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17494 HGNC:17493 GMNN biolink:OntologyClass mondo http://identifiers.org/hgnc/17493 HGNC:29478 ROGDI biolink:OntologyClass mondo http://identifiers.org/hgnc/29478 NCBITaxon:526525 Erysipelotrichales organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_526525 GO:0009247 glycolipid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). http://purl.obolibrary.org/obo/GO_0009247 glycolipid synthesis|glycolipid formation|glycolipid biosynthesis|glycolipid anabolism WIKIDATA:Q2 Earth biolink:OntologyClass mondo third planet from the Sun in the Solar System https://www.wikidata.org/wiki/Q2 NCBITaxon:1783272 Terrabacteria group organism taxon mondo GC_ID:11|PMID:18988685|PMID:23851394 http://purl.obolibrary.org/obo/NCBITaxon_1783272 NCBITaxon:1783270 FCB group organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1783270 Fibrobacter/Acidobacteria group|Fibrobacteres/Acidobacteria group|Fibrobacteres-Chlorobi-Bacteroidetes superphylum UBERON:0002600 limbic lobe biolink:AnatomicalEntity mondo Part of cerebral hemisphere located on the medial surface, forming a ring around the brain stem http://purl.obolibrary.org/obo/UBERON_0002600 fornicate convolution|fornicate gyrus|limbic lobe (carpenter)|fornicate lobe|gyrus fornicatus|lobus limbicus|grande lobe limbique of Broca HGNC:29456 TOR1AIP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29456 FOODON:03303918 human milk (raw) biolink:OntologyClass mondo SUBSET_SIREN:F3918 Breast milk is the milk produced by the breasts (or mammary glands) of a human female to feed a child. http://purl.obolibrary.org/obo/FOODON_03303918 "subset_siren" HGNC:29450 GLIS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29450 HGNC:29427 SH3TC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29427 HGNC:30417 SH2B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30417 HGNC:29426 CCBE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29426 HGNC:29420 RSPRY1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29420 ECTO:0000776 signalling molecule exposure biolink:OntologyClass mondo An exposure to signalling molecule. http://purl.obolibrary.org/obo/ECTO_0000776 exposure to signalling molecule HGNC:29433 NEXMIF biolink:OntologyClass mondo http://identifiers.org/hgnc/29433 CHEBI:84410 sphingoid base(1+) biolink:ChemicalSubstance mondo A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base. http://purl.obolibrary.org/obo/CHEBI_84410 a sphingoid base|2-amino-1,3-dihydroxysphingoid base(1+) GO:0009201 ribonucleoside triphosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate anabolism|ribonucleoside triphosphate synthesis|ribonucleoside triphosphate formation|ribonucleoside triphosphate biosynthesis GO:0009205 purine ribonucleoside triphosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolism GO:0009206 purine ribonucleoside triphosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009206 purine ribonucleoside triphosphate anabolism|purine ribonucleoside triphosphate synthesis|purine ribonucleoside triphosphate formation|purine ribonucleoside triphosphate biosynthesis GO:0046165 alcohol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/GO_0046165 alcohol anabolism|alcohol synthesis|alcohol formation|alcohol biosynthesis GO:0046164 alcohol catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/GO_0046164 alcohol degradation|alcohol catabolism|alcohol breakdown MONDO:0015490 predominantly small-vessel vasculitis biolink:Disease mondo Orphanet:156146 ORPHA:156146 http://purl.obolibrary.org/obo/MONDO_0015490 ordo_group_of_disorders UBERON:2002260 premaxillary-maxillary joint biolink:AnatomicalEntity mondo Joint that articulates the premaxilla and maxilla. Premaxillary-maxillary joint is paired. http://purl.obolibrary.org/obo/UBERON_2002260 HGNC:29529 TBL1XR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29529 HGNC:29521 C12orf57 biolink:OntologyClass mondo http://identifiers.org/hgnc/29521 MONDO:0015499 paralytic facial malformation biolink:Disease mondo ICD10:Q87.0|Orphanet:156224 ORPHA:156224 http://purl.obolibrary.org/obo/MONDO_0015499 ordo_group_of_disorders MONDO:0015494 isolated dystonia biolink:Disease mondo Orphanet:156159|ICD10:G24.1 A dystonia (disease) that is not part of a larger syndrome. ORPHA:156159 http://purl.obolibrary.org/obo/MONDO_0015494 isolated dystonic disorder|nonsyndromic dystonic disorder|Pure dystonia|nonsyndromic dystonia (disease) ordo_group_of_disorders MONDO:0015493 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy biolink:Disease mondo Orphanet:156156 ORPHA:156156 http://purl.obolibrary.org/obo/MONDO_0015493 ordo_disease MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis biolink:Disease mondo Orphanet:156152|UMLS:C2717865|GARD:0013011|MESH:D056648 Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. UMLS:C2717865|MESH:D056648|ORPHA:156152 http://purl.obolibrary.org/obo/MONDO_0015492 antineutrophil cytoplasmic antibody-associated vasculitis|ANCA-associated vasculitis|AAV ordo_group_of_disorders MONDO:0015491 immune complex mediated vasculitis biolink:Disease mondo Orphanet:156149 ORPHA:156149 http://purl.obolibrary.org/obo/MONDO_0015491 ordo_group_of_disorders HGNC:30521 SLC46A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30521 GO:0097755 positive regulation of blood vessel diameter biolink:OntologyClass mondo Any process that increases the diameter of blood vessels. http://purl.obolibrary.org/obo/GO_0097755 positive regulation of vasodilation MONDO:0015498 oromandibular-limb anomalies syndrome biolink:Disease mondo UMLS:CN199634|Orphanet:156215 UMLS:CN199634|ORPHA:156215 http://purl.obolibrary.org/obo/MONDO_0015498 ordo_group_of_disorders MONDO:0015497 hypoglossia/aglossia biolink:Disease mondo ICD10:Q38.3|Orphanet:156212 ORPHA:156212 http://purl.obolibrary.org/obo/MONDO_0015497 ordo_group_of_disorders GO:0097756 negative regulation of blood vessel diameter biolink:OntologyClass mondo Any process that decreases the diameter of blood vessels. http://purl.obolibrary.org/obo/GO_0097756 negative regulation of vasodilation MONDO:0015496 macroglossia biolink:Disease mondo MedDRA:10025391|MESH:D008260|UMLS:C0024421|Orphanet:156207|GARD:0003342|ICD10:Q38.2 The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) ORPHA:156207|MEDDRA:10025391|UMLS:C0009677|MESH:D008260|UMLS:C0024421 http://purl.obolibrary.org/obo/MONDO_0015496 enlarged tongue|giant tongue ordo_group_of_disorders MONDO:0015495 otomandibular dysplasia associated with monogenic syndromes biolink:Disease mondo UMLS:CN199632|Orphanet:156202 ORPHA:156202|UMLS:CN199632 http://purl.obolibrary.org/obo/MONDO_0015495 ordo_group_of_disorders GO:0046173 polyol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. http://purl.obolibrary.org/obo/GO_0046173 polyhydric alcohol biosynthetic process|polyol biosynthesis|polyol anabolism|polyol synthesis|polyol formation GO:1900249 positive regulation of cytoplasmic translational elongation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation. http://purl.obolibrary.org/obo/GO_1900249 up regulation of cytoplasmic translational elongation|up-regulation of cytoplasmic translational elongation|activation of cytoplasmic translational elongation|upregulation of cytoplasmic translational elongation MONDO:0027462 autosomal recessive cutis laxa type 2c biolink:Disease mondo OMIM:617402|DOID:0070140|ICD10:Q82.8 An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. http://identifiers.org/omim/617402|DOID:0070140 http://purl.obolibrary.org/obo/MONDO_0027462 autosomal recessive cutis laxa type IIC|cutis laxa, autosomal recessive, type IIC; ARCL2C|cutis laxa, autosomal recessive, type 2C|ARCL2C GO:1900248 negative regulation of cytoplasmic translational elongation biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation. http://purl.obolibrary.org/obo/GO_1900248 downregulation of cytoplasmic translational elongation|down regulation of cytoplasmic translational elongation|inhibition of cytoplasmic translational elongation|down-regulation of cytoplasmic translational elongation HGNC:29536 MAPKBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29536 GO:1900247 regulation of cytoplasmic translational elongation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation. http://purl.obolibrary.org/obo/GO_1900247 MONDO:0015489 predominantly medium-vessel vasculitis biolink:Disease mondo Orphanet:156143 ORPHA:156143 http://purl.obolibrary.org/obo/MONDO_0015489 ordo_group_of_disorders MONDO:0015488 predominantly large-vessel vasculitis biolink:Disease mondo Orphanet:156140 ORPHA:156140 http://purl.obolibrary.org/obo/MONDO_0015488 ordo_group_of_disorders MONDO:0015483 mandibulofacial dysostosis biolink:Disease mondo MedDRA:10051456|ICD10:Q75.4|Orphanet:155899|MESH:D008342 A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) ORPHA:155899|UMLS:C0242387|MESH:D008342|MEDDRA:10051456 http://purl.obolibrary.org/obo/MONDO_0015483 bilateral and symmetric oto-mandibular dysplasia ordo_group_of_disorders MONDO:0015482 otomandibular dysplasia biolink:Disease mondo Orphanet:155896 ORPHA:155896 http://purl.obolibrary.org/obo/MONDO_0015482 ordo_group_of_disorders MONDO:0015481 coloboma of inferior eyelid biolink:Disease mondo SCTID:763133008|Orphanet:155889|ICD10:Q10.3 Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome. SNOMEDCT:763133008|ORPHA:155889 http://purl.obolibrary.org/obo/MONDO_0015481 Inferior palpebral coloboma ordo_morphological_anomaly MONDO:0015480 coloboma of superior eyelid biolink:Disease mondo ICD10:Q10.3|SCTID:763132003|Orphanet:155884 Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. SNOMEDCT:763132003|ORPHA:155884 http://purl.obolibrary.org/obo/MONDO_0015480 superior palpebral coloboma ordo_morphological_anomaly MONDO:0015487 fatal infantile encephalocardiomyopathy biolink:Disease mondo ICD10:G71.3|Orphanet:1561|DOID:0050713|DC:0000488|SCTID:718124006|GARD:0001113 Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy. ORPHA:1561|SNOMEDCT:718124006|DOID:0050713 http://purl.obolibrary.org/obo/MONDO_0015487 fatal infantile encephalomyopathy|fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency|fatal infantile cytochrome C oxidase deficiency|fatal infantile COX deficiency|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency ordo_disease|gard_rare MONDO:0015486 keratoconus (disease) biolink:Disease mondo NCIT:C26806|DOID:10126|UMLS:C0022578|COHD:374362|HP:0000563|ICD9:371.60|ICD10:H18.60|ICD9:371.6|Orphanet:156071|ICD10:H18.6|SCTID:65636009|GARD:0006824|MedDRA:10023353|MESH:D007640|OMIMPS:148300 A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. MESH:D007640|ORPHA:156071|UMLS:C0022578|DOID:10126|SNOMEDCT:65636009|NCIT:C26806|MEDDRA:10023353 http://purl.obolibrary.org/obo/MONDO_0015486 conical cornea|keratoconus|KC|noninflammatory corneal thining ordo_group_of_disorders MONDO:0015485 primary hereditary glaucoma biolink:Disease mondo Orphanet:156005 ORPHA:156005 http://purl.obolibrary.org/obo/MONDO_0015485 primary glaucoma ordo_group_of_disorders MONDO:0015484 cysticercosis biolink:Disease mondo ICD10:B69.8|Orphanet:1560|UMLS:C0010678|MedDRA:10011775|EFO:0007231|DOID:10079|ICD10:B69.1|ICD10:B69.0|MESH:D003551|ICD10:B69.9|SCTID:59051007|COHD:440953|UMLS:C0338437|NCIT:C34520|ICD9:123.1|GARD:0008194|ICD10:B69 Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs. UMLS:C0010678|SNOMEDCT:59051007|DOID:10079|MESH:D003551|MEDDRA:10011775|ORPHA:1560|NCIT:C34520|UMLS:C0338437 http://purl.obolibrary.org/obo/MONDO_0015484 tenia solium infectious disease|neurocysticercosis|tapeworm infection: pork|tapeworm infection: intestinal taenia solum|intestinal taenia solium infection|tapeworm infection: [intestinal taenia solium] or [pork]|pork tapeworm infection ordo_disease HGNC:29508 KIDINS220 biolink:OntologyClass mondo http://identifiers.org/hgnc/29508 MONDO:0003487 pseudoglandular squamous cell carcinoma biolink:Disease mondo UMLS:C0334250|DOID:5524|NCIT:C4106|ICDO:8075/3|SCTID:403901001|UMLS:C0334393 A squamous cell carcinoma characterized by the formation of gland-like structures. NCIT:C4106|UMLS:C0334250|SNOMEDCT:403901001|UMLS:C0334393|DOID:5524 http://purl.obolibrary.org/obo/MONDO_0003487 adenoid squamous cell carcinoma|adenocarcinoma with squamous metaplasia (morphologic abnormality)|pseudoglandular epidermoid carcinoma|adenoacanthoma|pseudoglandular squamous cell carcinoma|acantholytic squamous cell carcinoma|adenocarcinoma with squamous metaplasia|pharyngeal tonsil squamous cell carcinoma|adenoid squamous cell carcinoma (morphologic abnormality)|pseudoglandular epidermoid cell carcinoma|pseudoglandular squamous carcinoma|adenoid squamous carcinoma MONDO:0003488 obsolete anal squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003488 MONDO:0003489 obsolete middle ear squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003489 MONDO:0003483 obsolete gastric squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003483 MONDO:0027451 autosomal recessive cutis laxa type 2d biolink:Disease mondo ICD10:Q82.8|OMIM:617403|DOID:0070129 An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13. http://identifiers.org/omim/617403|DOID:0070129 http://purl.obolibrary.org/obo/MONDO_0027451 autosomal recessive cutis laxa type IID|ARCL2D|cutis laxa, autosomal recessive, type IID; ARCL2D|cutis laxa, autosomal recessive, type 2D MONDO:0003484 obsolete penis squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003484 HGNC:29501 GPSM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29501 MONDO:0003485 obsolete colon squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003485 HGNC:29502 PJVK biolink:OntologyClass mondo http://identifiers.org/hgnc/29502 MONDO:0003486 basaloid squamous cell carcinoma biolink:Disease mondo DOID:5522|UMLS:C1266005|NCIT:C54244|ICDO:8083/3 A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading. NCIT:C54244|UMLS:C1266005|DOID:5522 http://purl.obolibrary.org/obo/MONDO_0003486 basaloid carcinoma (morphologic abnormality)|basaloid squamous cell carcinoma|basaloid carcinoma|basaloid squamous cell carcinoma (morphologic abnormality) MONDO:0003480 pineal region dysgerminoma biolink:Disease mondo UMLS:C1335415|NCIT:C7169|DOID:5510 A dysgerminoma (disease) that involves the pineal body. UMLS:C1335415|DOID:5510|NCIT:C7169 http://purl.obolibrary.org/obo/MONDO_0003480 pineal region dysgerminoma|pineal body dysgerminoma (disease)|pineal dysgerminoma MONDO:0003481 dysgerminoma of ovary biolink:Disease mondo ONCOTREE:ODYS|SCTID:254874008|EFO:1000414|UMLS:C0346185|NCIT:C8106|DOID:5511 A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage. UMLS:C0346185|DOID:5511|NCIT:C8106|SNOMEDCT:254874008 http://purl.obolibrary.org/obo/MONDO_0003481 dysgerminoma of the ovary|dysgerminoma of ovary|ovarian germ cell dysgerminoma|germ cell dysgerminoma of the ovary|germ cell dysgerminoma of ovary|dysgerminoma|ovarian dysgerminoma|ovary dysgerminoma (disease) GO:0046189 phenol-containing compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. http://purl.obolibrary.org/obo/GO_0046189 phenol-containing compound anabolism|phenol-containing compound synthesis|phenol-containing compound formation|phenol-containing compound biosynthesis MONDO:0003482 Pediculus humanus corporis infestation biolink:Disease mondo ICD10:B85.1|ICD9:132.1|UMLS:C0030758|DOID:5513|SCTID:25188002 A infectious disease involving the Pediculus humanus corporis. SNOMEDCT:25188002|DOID:5513|UMLS:C0030758 http://purl.obolibrary.org/obo/MONDO_0003482 Pediculus humanus corporis infection|Pediculus humanus infestation|infections, Pediculus humanus corporis|body louse infestation|Pediculus corporis [body louse]|Pediculus corporis GO:0009199 ribonucleoside triphosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolism MONDO:0015479 submucosal cleft palate biolink:Disease mondo ICD10:Q35.9|Orphanet:155878 ORPHA:155878 http://purl.obolibrary.org/obo/MONDO_0015479 ordo_morphological_anomaly MONDO:0015478 paramedian facial cleft biolink:Disease mondo ICD10:Q18.8|Orphanet:155867 ORPHA:155867 http://purl.obolibrary.org/obo/MONDO_0015478 Tessier number 1-1 and 2-12 facial cleft ordo_group_of_disorders GO:0010185 regulation of cellular defense response biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cellular defense response. http://purl.obolibrary.org/obo/GO_0010185 regulation of cellular defence response GO:0010186 positive regulation of cellular defense response biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cellular defense response. http://purl.obolibrary.org/obo/GO_0010186 up regulation of cellular defense response|positive regulation of cellular defence response|activation of cellular defense response|stimulation of cellular defense response|upregulation of cellular defense response|up-regulation of cellular defense response MONDO:0015477 pinnae fistula or cyst biolink:Disease mondo Orphanet:155838|ICD10:Q18.8 Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated. ORPHA:155838 http://purl.obolibrary.org/obo/MONDO_0015477 ordo_morphological_anomaly MONDO:0015472 obsolete cryptococcosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015472 HGNC:30500 PRRT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30500 MONDO:0015471 benign focal seizures of adolescence biolink:Disease mondo UMLS:C4275141|SCTID:715425000|Orphanet:1544|ICD10:G40.8 UMLS:C4275141|SNOMEDCT:715425000|ORPHA:1544 http://purl.obolibrary.org/obo/MONDO_0015471 adolescent benign focal crisis ordo_disease MONDO:0015470 familial isolated dilated cardiomyopathy biolink:Disease mondo Orphanet:154|ICD10:I42.0|UMLS:CN199609 Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia. UMLS:CN199609|ORPHA:154 http://purl.obolibrary.org/obo/MONDO_0015470 familial or idiopathic dilated cardiomyopathy ordo_disease MONDO:0015476 cysts and fistulae of the face and oral cavity biolink:Disease mondo Orphanet:155835|ICD10:Q18.0 ORPHA:155835 http://purl.obolibrary.org/obo/MONDO_0015476 ordo_group_of_disorders MONDO:0015475 rare head and neck malformation biolink:Disease mondo UMLS:CN226686|Orphanet:155832 ORPHA:155832|UMLS:CN226686 http://purl.obolibrary.org/obo/MONDO_0015475 ordo_group_of_disorders|obsoletion_candidate GO:0097734 extracellular exosome biogenesis biolink:OntologyClass mondo The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. http://purl.obolibrary.org/obo/GO_0097734 exosome production|exosome assembly or secretion|intraluminal vesicle assembly|exosome biogenesis|ILV assembly MONDO:0015474 cryptosporidiosis biolink:Disease mondo UMLS:C0010418|SCTID:66160001|ICD9:007.4|MedDRA:10011502|NCIT:C128408|Orphanet:1549|DOID:1733|UMLS:C0520796|ICD10:A07.2|MESH:D003457|COHD:194265|GARD:0006219 Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea. UMLS:C0010418|SNOMEDCT:66160001|DOID:1733|MESH:D003457|UMLS:C0520796|MEDDRA:10011502|ORPHA:1549|NCIT:C128408 http://purl.obolibrary.org/obo/MONDO_0015474 Cryptosporidium disease or disorder|Cryptosporidium infection|intestinal cryptosporidiosis|Cryptosporidial gastroenteritis|Cryptosporidioses|infection by Cryptosporidium|Cryptosporidium infectious disease|Cryptosporidium caused disease or disorder ordo_disease|gard_rare MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome biolink:Disease mondo UMLS:CN199616|ICD10:Q87.8|Orphanet:1548|GARD:0000860 Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. UMLS:CN199616|ORPHA:1548 http://purl.obolibrary.org/obo/MONDO_0015473 cryptorchidism arachnodactyly intellectual deficit|Van Benthem-Driessen-Hanveld syndrome ordo_malformation_syndrome MONDO:0003498 obsolete gallbladder squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003498 HGNC:29515 PLEKHG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29515 MONDO:0003499 sarcomatoid squamous cell skin carcinoma biolink:Disease mondo NCIT:C4666|SCTID:254653005|UMLS:C0349656|DOID:5536 A squamous cell carcinoma of the skin with a prominent spindle cell component. UMLS:C0349656|NCIT:C4666|SNOMEDCT:254653005|DOID:5536 http://purl.obolibrary.org/obo/MONDO_0003499 spindle cell squamous carcinoma of skin|spindle cell squamous carcinoma of the skin|spindle cell (sarcomatoid) squamous cell skin carcinoma|spindle cell (sarcomatoid) squamous cell carcinoma|spindle cell squamous cell carcinoma|squamous cell carcinoma, sarcomatoid MONDO:0003494 ovarian squamous cell carcinoma biolink:Disease mondo DOID:5531|UMLS:C2019443|EFO:1000432|NCIT:C40093 A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor. UMLS:C2019443|NCIT:C40093|DOID:5531 http://purl.obolibrary.org/obo/MONDO_0003494 ovary squamous cell carcinoma|ovarian squamous cell cancer|ovarian squamous cell carcinoma NCBITaxon:10404 Hepadnaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10404 hepatitis B-type viruses MONDO:0003495 ovarian squamous cell neoplasm biolink:Disease mondo DOID:5532|UMLS:C1518739|NCIT:C40092 A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor. UMLS:C1518739|NCIT:C40092|DOID:5532 http://purl.obolibrary.org/obo/MONDO_0003495 ovarian squamous cell tumor|ovary squamous cell neoplasm|ovarian squamous cell neoplasm NCBITaxon:10405 Orthohepadnavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10405 mammalian hepatitis B-type viruses MONDO:0003496 obsolete endometrial squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003496 MONDO:0003497 renal pelvis squamous cell carcinoma biolink:Disease mondo NCIT:C7732|UMLS:C0238409|DOID:5534 A squamous cell carcinoma that involves the renal pelvis. NCIT:C7732|UMLS:C0238409|DOID:5534 http://purl.obolibrary.org/obo/MONDO_0003497 epidermoid carcinoma of the kidney pelvis|kidney pelvis squamous cell carcinoma|kidney pelvis epidermoid carcinoma|squamous cell carcinoma of the renal pelvis|kidney renal pelvis squamous cell cancer|renal pelvis squamous cell carcinoma|squamous cell carcinoma of renal pelvis|squamous cell carcinoma of the kidney pelvis|squamous cell carcinoma of kidney pelvis|renal pelvis epidermoid carcinoma|epidermoid carcinoma of renal pelvis|epidermoid carcinoma of the renal pelvis|epidermoid carcinoma of kidney pelvis|renal pelvis squamous cell cancer NCBITaxon:10407 Hepatitis B virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10407 human hepatitis B virus HBV|HBV|hepatitis B virus (HBV)|hepatitis B virus, HBV|Human hepatitis B virus|hepatitis B virus HBV HGNC:29514 GLDN biolink:OntologyClass mondo http://identifiers.org/hgnc/29514 MONDO:0003490 ampulla of vater squamous cell carcinoma biolink:Disease mondo NCIT:C27417|DOID:5527|UMLS:C1332251 A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. UMLS:C1332251|DOID:5527|NCIT:C27417 http://purl.obolibrary.org/obo/MONDO_0003490 hepatopancreatic ampulla squamous cell carcinoma|ampulla of Vater squamous cell carcinoma MONDO:0003491 obsolete rectum squamous cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003491 MONDO:0003492 lacrimal gland squamous cell carcinoma biolink:Disease mondo UMLS:C1334360|DOID:5529|NCIT:C6092 A squamous cell carcinoma that involves the lacrimal gland. UMLS:C1334360|DOID:5529|NCIT:C6092 http://purl.obolibrary.org/obo/MONDO_0003492 squamous cell carcinoma of the lacrimal gland|lacrimal gland squamous cell carcinoma|epidermoid carcinoma of the lacrimal gland|epidermoid carcinoma of lacrimal gland|lacrimal gland epidermoid carcinoma|squamous cell carcinoma of lacrimal gland MONDO:0003493 thymus squamous cell carcinoma biolink:Disease mondo DOID:5530|EFO:1000579|UMLS:C1336082|NCIT:C6455 A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. NCIT:C6455|UMLS:C1336082|DOID:5530 http://purl.obolibrary.org/obo/MONDO_0003493 Thymus squamous cell carcinoma|thymic squamous cell carcinoma|epidermoid thymic carcinoma|squamous cell carcinoma of Thymus|thymus squamous cell carcinoma|squamous cell carcinoma of the Thymus MONDO:0015469 craniosynostosis biolink:Disease mondo OMIMPS:123100|Orphanet:1531|MedDRA:10048907|NCIT:C84655|ICD10:Q75.0|DOID:2340|UMLS:C0010278|MedDRA:10049889|GARD:0006209|MESH:D003398 Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. MEDDRA:10049889|ORPHA:1531|MEDDRA:10048907|DOID:2340|UMLS:C0010278|NCIT:C84655|MESH:D003398 http://purl.obolibrary.org/obo/MONDO_0015469 premature closure of cranial sutures|CSO|craniosynostosis syndrome ordo_group_of_disorders MONDO:0015468 craniosynostosis-cataract syndrome biolink:Disease mondo Orphanet:1530|UMLS:CN226684|ICD10:Q75.0 UMLS:CN226684|ORPHA:1530 http://purl.obolibrary.org/obo/MONDO_0015468 ordo_malformation_syndrome HP:0008905 Rhizomelia biolink:PhenotypicFeature mondo UMLS:C1866730 Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). http://purl.obolibrary.org/obo/HP_0008905 Short stature, rhizomelic|Rhizomelic shortening|Rhizomelic short stature|Disproportionately short upper portion of limb|Rhizomelic short limbs|Rhizomelic limb shortening|Symmetrical rhizomelic limb shortening|Rhizomelic dwarfism hposlim_core MONDO:0015467 craniosynostosis, Philadelphia type biolink:Disease mondo ICD10:Q87.0|SCTID:720818003|Orphanet:1527|GARD:0001601 Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. ORPHA:1527|SNOMEDCT:720818003 http://purl.obolibrary.org/obo/MONDO_0015467 ordo_malformation_syndrome MONDO:0015466 cranio-osteoarthropathy biolink:Disease mondo SCTID:720753002|GARD:0001564|UMLS:CN199601|Orphanet:1525|ICD10:M89.4 Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. ORPHA:1525|SNOMEDCT:720753002|UMLS:CN199601|UMLS:C2930922 http://purl.obolibrary.org/obo/MONDO_0015466 cranio osteoarthropathy|Currarino disease|Reginato-Schiapachasse syndrome|Currarino idiopathic osteoarthropathy ordo_malformation_syndrome|gard_rare MONDO:0015461 short rib-polydactyly syndrome biolink:Disease mondo MESH:D012779|UMLS:C0036996|ICD9:756.3|SCTID:205484001|Orphanet:1505|NCIT:C85065|ICD10:Q77.2 Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). MESH:D012779|NCIT:C85065|UMLS:C0036996|SNOMEDCT:205484001|ORPHA:1505 http://purl.obolibrary.org/obo/MONDO_0015461 ordo_group_of_disorders MONDO:0015460 obsolete adrenocortical carcinoma biolink:Disease mondo A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. http://purl.obolibrary.org/obo/MONDO_0015460 GO:0097746 blood vessel diameter maintenance biolink:OntologyClass mondo Any process that modulates the diameter of blood vessels. http://purl.obolibrary.org/obo/GO_0097746 regulation of vasodilation|regulation of vasodilatation|blood vessel diameter homeostasis|regulation of blood vessel diameter|regulation of blood vessel size MONDO:0015465 craniometaphyseal dysplasia biolink:Disease mondo DOID:0080033|OMIMPS:123000|ICD10:Q78.8|ICD9:756.89|SCTID:36601008|Orphanet:1522 Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. SNOMEDCT:36601008|DOID:0080033|ORPHA:1522 http://purl.obolibrary.org/obo/MONDO_0015465 ordo_malformation_syndrome MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome biolink:Disease mondo Orphanet:1521|ICD10:Q87.8|SCTID:720757001|UMLS:CN199598 Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far. UMLS:CN199598|SNOMEDCT:720757001|ORPHA:1521 http://purl.obolibrary.org/obo/MONDO_0015464 Webster-Deming syndrome ordo_malformation_syndrome MONDO:0015463 craniodigital syndrome-intellectual disability syndrome biolink:Disease mondo ICD10:Q87.0|GARD:0004776|Orphanet:1514|SCTID:763665007|MESH:C537528|UMLS:C1839311 Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. SNOMEDCT:763665007|http://identifiers.org/omim/312860|MESH:C537528|ORPHA:1514|UMLS:C1839311 http://purl.obolibrary.org/obo/MONDO_0015463 craniodigital-intellectual disability syndrome|Scott craniodigital syndrome with mental retardation|craniodigital syndrome-intellectual disability, Scott type|Scott Bryant Graham syndrome|craniodigital syndrome with mental retardation|Scott-Bryant-Graham syndrome|craniodigital syndrome with intellectual disability|Scott craniodigital syndrome with intellectual disability|craniodigital syndrome-mental retardation, Scott type|Scott craniodigital syndrome ordo_malformation_syndrome|gard_rare MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome biolink:Disease mondo MESH:C537595|Orphanet:1506|UMLS:C2931543|ICD10:Q87.5 UMLS:C2931543|MESH:C537595|ORPHA:1506 http://purl.obolibrary.org/obo/MONDO_0015462 Sharma-Kapoor-Ramji syndrome ordo_malformation_syndrome GO:0009185 ribonucleoside diphosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009185 ribonucleoside diphosphate metabolism GO:0009179 purine ribonucleoside diphosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009179 purine ribonucleoside diphosphate metabolism UBERON:0036068 subglottis biolink:AnatomicalEntity mondo The lower portion of the larynx, extending from just beneath the vocal cords down to the top of the trachea. http://purl.obolibrary.org/obo/UBERON_0036068 infraglottic part of larynx|subglottic larynx|subglottic region HGNC:17513 HOMER2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17513 UBERON:0036073 respiratory primordium mesenchyme biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036073 respiratory primordium associated mesenchyme UBERON:0036072 respiratory primordium epithelium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0036072 UBERON:0036074 vein of vestibular aqueduct biolink:AnatomicalEntity mondo A vein that leaves the vestibule through an individual bone canal running parallel to the vestibular aqueduct up to the dura of the posterior side of the petrosa in the area of the endolymphatic sac. It then opens in the inferior petrosal sinus or the jugular bulb. The vein receives other branches from the bone, dura and sac. http://purl.obolibrary.org/obo/UBERON_0036074 vena aqueductus vestibuli|vestibular aqueduct vein GO:0009161 ribonucleoside monophosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009161 ribonucleoside monophosphate metabolism GO:0009156 ribonucleoside monophosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009156 ribonucleoside monophosphate biosynthesis|ribonucleoside monophosphate anabolism|ribonucleoside monophosphate synthesis|ribonucleoside monophosphate formation GO:0009165 nucleotide biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/GO_0009165 nucleotide anabolism|nucleotide synthesis|nucleotide formation|nucleotide biosynthesis GO:0009166 nucleotide catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/GO_0009166 nucleotide degradation|nucleotide breakdown|nucleotide catabolism GO:0010155 regulation of proton transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of proton transport into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0010155 GO:0034101 erythrocyte homeostasis biolink:OntologyClass mondo Any process of regulating the production and elimination of erythrocytes within an organism. http://purl.obolibrary.org/obo/GO_0034101 red blood cell homeostasis|RBC homeostasis GO:0009167 purine ribonucleoside monophosphate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009167 purine ribonucleoside monophosphate metabolism GO:0009168 purine ribonucleoside monophosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009168 purine ribonucleoside monophosphate anabolism|purine ribonucleoside monophosphate synthesis|purine ribonucleoside monophosphate biosynthesis|purine ribonucleoside monophosphate formation GO:0034103 regulation of tissue remodeling biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of tissue remodeling. http://purl.obolibrary.org/obo/GO_0034103 GO:0034104 negative regulation of tissue remodeling biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling. http://purl.obolibrary.org/obo/GO_0034104 GO:0034105 positive regulation of tissue remodeling biolink:OntologyClass mondo Any process that activates or increases the frequency, rate, or extent of tissue remodeling. http://purl.obolibrary.org/obo/GO_0034105 MONDO:0003425 ophthalmoplegia biolink:Disease mondo ICD9:378.56|MESH:D009886|DOID:539|SCTID:78097002 Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis. SNOMEDCT:78097002|NCIT:C79697|DOID:539|MESH:D009886 http://purl.obolibrary.org/obo/MONDO_0003425 oculomotor paralysis|total ophthalmoplegia MONDO:0003426 clear cell adenoma biolink:Disease mondo DOID:5390|UMLS:C0334315|ICDO:8310/0|NCIT:C4151 A benign neoplasm composed of glands containing epithelial clear cells. NCIT:C4151|UMLS:C0334315|DOID:5390 http://purl.obolibrary.org/obo/MONDO_0003426 clear cell adenoma (morphologic abnormality)|adenoma, clear cell, benign|clear cell adenoma MONDO:0003427 bronchus adenoma biolink:Disease mondo NCIT:C3494|ICDO:8260/0|DOID:5391|UMLS:C0149845 A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative. UMLS:C0149845|NCIT:C3494|DOID:5391 http://purl.obolibrary.org/obo/MONDO_0003427 bronchial adenoma, NOS|adenoma, bronchial, benign|bronchial adenoma|bronchial adenoma NOS (morphologic abnormality)|type II pneumocyte adenoma|lung papillary adenoma|papillary adenoma of type II pneumocytes|adenoma of the bronchus|adenoma of bronchus|peripheral papillary tumor of type II pneumocytes|bronchus adenoma MONDO:0003428 brain hemangioma biolink:Disease mondo DOID:5393|NCIT:C7739|UMLS:C0238814 A hemangioma arising from the brain. NCIT:C7739|UMLS:C0238814|DOID:5393 http://purl.obolibrary.org/obo/MONDO_0003428 brain hemangioma|brain angioma MONDO:0003421 mixed cell adenoma biolink:Disease mondo UMLS:C0334323|ICDO:8323/0|NCIT:C4157|DOID:5385 An adenoma characterized by the presence of a mixed epithelial cell population. UMLS:C0334323|DOID:5385|NCIT:C4157 http://purl.obolibrary.org/obo/MONDO_0003421 mixed cell adenoma MONDO:0003422 lung adenoma biolink:Disease mondo UMLS:C0345964|SCTID:254642004|NCIT:C4455|DOID:5386 A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma. NCIT:C4455|SNOMEDCT:254642004|UMLS:C0345964|DOID:5386 http://purl.obolibrary.org/obo/MONDO_0003422 lung adenoma|adenoma of lung|pulmonary adenoma|adenoma of the lung HGNC:9460 PROZ biolink:OntologyClass mondo http://identifiers.org/hgnc/9460 MONDO:0003423 middle ear adenoma biolink:Disease mondo NCIT:C6834|UMLS:C1334759|SCTID:734078009|DOID:5387 A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss. NCIT:C6834|UMLS:C1334759|DOID:5387|SNOMEDCT:734078009 http://purl.obolibrary.org/obo/MONDO_0003423 adenoma of middle ear|middle ear adenoma|adenoma of the middle ear MONDO:0003424 oncocytic adenoma biolink:Disease mondo UMLS:C1510502|ICDO:8290/0|EFO:1001079|NCIT:C3759|DOID:5389 A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland. NCIT:C3759|DOID:5389|UMLS:C1510502 http://purl.obolibrary.org/obo/MONDO_0003424 oncocytic adenoma|follicular adenoma, oxyphilic cell|oncocytoma|oxyphilic adenoma MONDO:0015409 isolated congenital syngnathia biolink:Disease mondo SCTID:763317002|Orphanet:141214|ICD10:Q67.4 Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis. SNOMEDCT:763317002|ORPHA:141214 http://purl.obolibrary.org/obo/MONDO_0015409 isolated congenital maxillomandibular fusion ordo_malformation_syndrome MONDO:0003420 bile duct cystadenoma biolink:Disease mondo UMLS:C0334285|DOID:5384|NCIT:C4129|ICDO:8161/0 An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid. UMLS:C0334285|DOID:5384|NCIT:C4129 http://purl.obolibrary.org/obo/MONDO_0003420 bile duct mucinous cystic neoplasm|cystadenoma of the bile duct|bile duct cystadenoma|cystadenoma of bile duct|bile duct cystadenoma (morphologic abnormality) MONDO:0015408 diffuse lymphatic malformation biolink:Disease mondo Orphanet:141209|SCTID:703298001|UMLS:C0343090|ICD10:I89.8 SNOMEDCT:703298001|ORPHA:141209|UMLS:C0343090 http://purl.obolibrary.org/obo/MONDO_0015408 disseminated lymphangiomatosis|diffuse lymphangioma|disseminated lymphangioma|diffuse lymphangiomatosis|generalized lymphatic anomaly|disseminated lymphatic malformation|Gla ordo_clinical_subtype NCBITaxon:1824 Nocardia asteroides organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1824 Asteroides asteroides|Cladothrix asteroides|Discomyces asteroides|Actinomyces eppinger|Actinomyces eppingeri|Actinomyces asteroides|Proactinomyces asteroides|Oospora asteroides|Streptotrix asteroides|Streptothrix eppingerii MONDO:0015414 paramedian nasal cleft biolink:Disease mondo ICD10:Q18.8|SCTID:204521002|Orphanet:141242|ICD9:748.1 Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved. SNOMEDCT:204521002|ORPHA:141242 http://purl.obolibrary.org/obo/MONDO_0015414 alar rim cleft|cleft nose|alar cleft|isolated coloboma of the nose|Tessier number 1 cleft|isolated cleft of the ala nasi ordo_morphological_anomaly UBERON:0000060 anatomical wall biolink:AnatomicalEntity mondo Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. http://purl.obolibrary.org/obo/UBERON_0000060 wall|wall of organ|organ wall MONDO:0015413 median cleft of the upper lip and maxilla biolink:Disease mondo Orphanet:141239|ICD10:Q18.8 Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated. ORPHA:141239 http://purl.obolibrary.org/obo/MONDO_0015413 ordo_morphological_anomaly UBERON:0000061 anatomical structure biolink:AnatomicalEntity mondo Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. http://purl.obolibrary.org/obo/UBERON_0000061 connected biological structure|biological structure MONDO:0015412 median facial cleft biolink:Disease mondo Orphanet:141234|ICD10:Q18.8 ORPHA:141234 http://purl.obolibrary.org/obo/MONDO_0015412 Tessier number 0-14 and 30 facial cleft|Midline facial cleft ordo_group_of_disorders UBERON:0000062 organ biolink:AnatomicalEntity mondo Anatomical structure that performs a specific function or group of functions [WP]. http://purl.obolibrary.org/obo/UBERON_0000062 body organ|anatomical unit|element UBERON:0000063 organ subunit biolink:AnatomicalEntity mondo A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. http://purl.obolibrary.org/obo/UBERON_0000063 segment of organ|organ segment|organ region with fixed fiat boundary MONDO:0015411 facial cleft biolink:Disease mondo Orphanet:141229|ICD10:Q18.8|NCIT:C124510|SCTID:92821006 A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. NCIT:C124510|ORPHA:141229|SNOMEDCT:92821006|UMLS:C0685787 http://purl.obolibrary.org/obo/MONDO_0015411 craniofacial cleft|prosoposchisis|cleft face ordo_group_of_disorders MONDO:0015418 lateral facial cleft biolink:Disease mondo Orphanet:141269|ICD10:Q18.8 ORPHA:141269 http://purl.obolibrary.org/obo/MONDO_0015418 Tessier number 7 facial cleft|transverse facial cleft ordo_group_of_disorders MONDO:0015417 Tessier number 6 facial cleft biolink:Disease mondo ICD10:Q18.8|Orphanet:141265 ORPHA:141265 http://purl.obolibrary.org/obo/MONDO_0015417 ordo_morphological_anomaly MONDO:0015416 Tessier number 5 facial cleft biolink:Disease mondo ICD10:Q18.8|Orphanet:141261 ORPHA:141261 http://purl.obolibrary.org/obo/MONDO_0015416 ordo_morphological_anomaly MONDO:0015415 oblique facial cleft biolink:Disease mondo ICD10:Q18.8|Orphanet:141253 ORPHA:141253 http://purl.obolibrary.org/obo/MONDO_0015415 Orbitofacial cleft ordo_group_of_disorders UBERON:0000068 embryo stage biolink:AnatomicalEntity mondo A life cycle stage that starts with fertilization and ends with the fully formed embryo. http://purl.obolibrary.org/obo/UBERON_0000068 embryonic stage|embryogenesis HGNC:9461 PRPH biolink:OntologyClass mondo http://identifiers.org/hgnc/9461 HGNC:9462 PRPS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9462 UBERON:0000064 organ part biolink:AnatomicalEntity mondo A multicellular structure that is a part of an organ. http://purl.obolibrary.org/obo/UBERON_0000064 cardinal organ part|regional part of organ MONDO:0015410 nasal dorsum fistula/cyst biolink:Disease mondo ICD10:Q18.8|Orphanet:141219 ORPHA:141219 http://purl.obolibrary.org/obo/MONDO_0015410 ordo_morphological_anomaly MONDO:0003418 obsolete bile duct adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003418 MONDO:0003419 Bartholin gland adenoma biolink:Disease mondo DOID:5382|NCIT:C40299|UMLS:C1511048 A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells. NCIT:C40299|DOID:5382|UMLS:C1511048 http://purl.obolibrary.org/obo/MONDO_0003419 Bartholin gland adenoma|major vestibular gland adenoma|Bartholin's gland adenoma UBERON:0000065 respiratory tract biolink:AnatomicalEntity mondo Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts http://purl.obolibrary.org/obo/UBERON_0000065 UBERON:0000066 fully formed stage biolink:AnatomicalEntity mondo The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. http://purl.obolibrary.org/obo/UBERON_0000066 fully formed animal stage|adult stage|juvenile-adult stage CHEBI:23443 cyclic amide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23443 cyclic amides|cyclic amide MONDO:0003436 obsolete lung oat cell carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003436 MONDO:0003437 occult small cell lung carcinoma biolink:Disease mondo NCIT:C6683|DOID:5414|UMLS:C1335099 A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. UMLS:C1335099|DOID:5414|NCIT:C6683 http://purl.obolibrary.org/obo/MONDO_0003437 lung occult small cell carcinoma|occult small cell carcinoma of lung|occult small cell carcinoma of the lung|occult small cell lung carcinoma MONDO:0003438 combined small cell lung carcinoma biolink:Disease mondo UMLS:C1333125|ONCOTREE:CSCLC|NCIT:C9137|ICDO:8045/3|DOID:5421 A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma. UMLS:C1333125|NCIT:C9137|DOID:5421 http://purl.obolibrary.org/obo/MONDO_0003438 combined small and large cell lung carcinoma|small cell and large cell lung carcinoma|combined type small cell lung carcinoma|combined small cell lung carcinoma|CSCLC|combined type small cell carcinoma of lung|mixed small cell and large cell carcinoma of lung|combined small cell carcinoma of the lung|mixed small cell and large cell carcinoma of the lung|combined small cell and large cell lung carcinoma|combined small cell lung cancer|combined small and large cell lung cancer|mixed small cell and large cell lung carcinoma|lung combined type small cell carcinoma|combined small cell carcinoma of lung|small cell and large cell carcinoma of lung|combined type small cell carcinoma of the lung|small cell and large cell carcinoma of the lung FOODON:03000001 food peeling process biolink:OntologyClass mondo "peeling" is the process of removing the outer covering, layer or skin from a fruit, vegetable, or plant or animal (such as a shrimp). http://purl.obolibrary.org/obo/FOODON_03000001 MONDO:0003439 urinary bladder villous adenoma biolink:Disease mondo UMLS:C1336893|DOID:5427|NCIT:C7414 An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma. UMLS:C1336893|DOID:5427|NCIT:C7414 http://purl.obolibrary.org/obo/MONDO_0003439 villous adenoma of urinary bladder|villous adenoma of the urinary bladder|bladder villous adenoma|urinary bladder villous adenoma MONDO:0003432 strabismus biolink:Disease mondo ICD9:378.7|DOID:540|ICD10:H50.89|ICD9:378.40|ICD10:H50.8|UMLS:C0038379|COHD:4329707|NCIT:C35040|SCTID:22066006 Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. SNOMEDCT:22066006|NCIT:C35040|UMLS:C0038379|DOID:540 http://purl.obolibrary.org/obo/MONDO_0003432 strabismus|squint MONDO:0003433 water-clear cell adenoma biolink:Disease mondo NCIT:C4155|DOID:5401|ICDO:8322/0|UMLS:C0334321 A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular. UMLS:C0334321|DOID:5401|NCIT:C4155 http://purl.obolibrary.org/obo/MONDO_0003433 water-clear cell adenoma (morphologic abnormality)|parathyroid gland water-clear cell adenoma MONDO:0003434 vaginal adenoma biolink:Disease mondo UMLS:C1519913|DOID:5402|NCIT:C40256 A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation. NCIT:C40256|DOID:5402|UMLS:C1519913 http://purl.obolibrary.org/obo/MONDO_0003434 vaginal adenoma|vagina adenoma MONDO:0003435 microcystic adenoma biolink:Disease mondo NCIT:C3685|DOID:5403|UMLS:C0205648|ICDO:8202/0 A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia. NCIT:C3685|DOID:5403|UMLS:C0205648 http://purl.obolibrary.org/obo/MONDO_0003435 microcystic adenoma|microcystic adenoma (morphologic abnormality) UBERON:0014699 extraembryonic venous system biolink:AnatomicalEntity mondo A venous system that overlaps a umbilical cord and is part of a entire extraembryonic component. http://purl.obolibrary.org/obo/UBERON_0014699 MONDO:0003430 prolactin producing pituitary tumor biolink:Disease mondo NCIT:C7910|UMLS:C0278863|DOID:5396 An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin. DOID:5396|UMLS:C0278863|NCIT:C7910 http://purl.obolibrary.org/obo/MONDO_0003430 prolactin secreting neoplasm of the pituitary|prolactin secreting pituitary gland tumor|prolactin secreting neoplasm of pituitary|prolactin producing pituitary gland neoplasm|prolactin secreting pituitary tumor|prolactin-producing pituitary gland tumor|prolactin producing neoplasm of the pituitary gland|PRL producing pituitary gland neoplasm|prolactin secreting pituitary neoplasm|prolactin-producing pituitary gland neoplasm|prolactin producing neoplasm of pituitary gland|prolactin secreting tumor of pituitary|prolactin producing tumor of the pituitary gland|prolactin producing neoplasm of the pituitary|prolactin producing pituitary gland tumor|prolactin secreting pituitary gland neoplasm|prolactin producing neoplasm of pituitary|prolactin producing tumor of pituitary gland|prolactin producing pituitary tumour|prolactin producing pituitary tumor|prolactin producing tumor of the pituitary|prolactin producing tumor of pituitary|malignant prolactinoma|malignant prolactin producing neoplasm of pituitary gland|prolactin secreting tumor of the pituitary gland|prolactin secreting tumor of pituitary gland|prolactin-producing pituitary gland carcinoma|prolactin secreting tumor of the pituitary|prolactin secreting neoplasm of the pituitary gland|prolactin secreting neoplasm of pituitary gland|prolactin producing pituitary neoplasm MONDO:0003431 lipoadenoma biolink:Disease mondo UMLS:C0334325|NCIT:C4159|ICDO:8324/0|DOID:5398 An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells. DOID:5398|NCIT:C4159|UMLS:C0334325 http://purl.obolibrary.org/obo/MONDO_0003431 adenolipoma, benign|lipoadenoma|lipoadenoma (morphologic abnormality) FOODON:03000003 obsolete: brown shrimp biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03000003 FOODON:03000004 obsolete: green mud crab biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03000004 UBERON:0014695 deep auricular artery biolink:AnatomicalEntity mondo The deep auricular artery often arises in common with the anterior tympanic artery. It ascends in the substance of the parotid gland, behind the temporomandibular articulation, pierces the cartilaginous or bony wall of the external acoustic meatus, and supplies its cuticular lining and the outer surface of the tympanic membrane. It gives a branch to the temporomandibular joint. http://purl.obolibrary.org/obo/UBERON_0014695 FOODON:03000005 obsolete: Indian prawn biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03000005 MONDO:0015403 non-involuting congenital hemangioma biolink:Disease mondo Orphanet:141179|UMLS:C1275417|SCTID:703295003|GARD:0010890|ICD10:D18.0 Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute). UMLS:C1275417|ORPHA:141179|SNOMEDCT:703295003 http://purl.obolibrary.org/obo/MONDO_0015403 NICH|noninvoluting congenital hemangioma gard_rare|ordo_disease MONDO:0015402 mandibular arteriovenous malformation biolink:Disease mondo SCTID:703334000|ICD10:Q27.3|Orphanet:141174 Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock. SNOMEDCT:703334000|ORPHA:141174 http://purl.obolibrary.org/obo/MONDO_0015402 arteriovenous malformation of mandible ordo_malformation_syndrome MONDO:0015401 maxillary arteriovenous malformation biolink:Disease mondo ICD10:Q27.3|Orphanet:141171|SCTID:703335004 Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic. SNOMEDCT:703335004|ORPHA:141171 http://purl.obolibrary.org/obo/MONDO_0015401 arteriovenous malformation of maxilla ordo_malformation_syndrome MONDO:0015400 frontonasal arteriovenous malformation biolink:Disease mondo ICD10:Q27.3|Orphanet:141168 Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure. ORPHA:141168 http://purl.obolibrary.org/obo/MONDO_0015400 ordo_malformation_syndrome MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 biolink:Disease mondo SCTID:703268008|UMLS:C3838691|UMLS:CN199502|Orphanet:141199|ICD10:Q28.2 UMLS:CN199502|UMLS:C3838691|SNOMEDCT:703268008|ORPHA:141199 http://purl.obolibrary.org/obo/MONDO_0015407 CAMS3 ordo_malformation_syndrome MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 biolink:Disease mondo Orphanet:141194|SCTID:703267003|ICD10:Q28.2|UMLS:CN199501|UMLS:C3840102 UMLS:CN199501|UMLS:C3840102|ORPHA:141194|SNOMEDCT:703267003 http://purl.obolibrary.org/obo/MONDO_0015406 CAMS1 ordo_malformation_syndrome MONDO:0015405 cerebrofacial arteriovenous metameric syndrome biolink:Disease mondo ICD10:Q28.2|UMLS:C3839265|UMLS:CN199500|Orphanet:141189|SCTID:703266007 A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region. UMLS:CN199500|ORPHA:141189|SNOMEDCT:703266007|UMLS:C3839265 http://purl.obolibrary.org/obo/MONDO_0015405 CAMS ordo_group_of_disorders CHEBI:35427 ortho-fused polycyclic hydrocarbon biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbons|ortho-fused polycyclic hydrocarbon MONDO:0015404 rapidly involuting congenital hemangioma biolink:Disease mondo UMLS:C1275421|ICD10:D18.0|SCTID:703294004|Orphanet:141184 Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution. UMLS:C1275421|ORPHA:141184|SNOMEDCT:703294004 http://purl.obolibrary.org/obo/MONDO_0015404 rich ordo_disease UBERON:0000057 urethra biolink:AnatomicalEntity mondo the fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening http://purl.obolibrary.org/obo/UBERON_0000057 UBERON:0000058 duct biolink:AnatomicalEntity mondo A tubular structure that transports secreted or excreted substances. http://purl.obolibrary.org/obo/UBERON_0000058 exocrine duct|exocrine gland duct|anatomical duct|ducts HGNC:9475 PRSS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9475 UBERON:0000059 large intestine biolink:AnatomicalEntity mondo A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]. http://purl.obolibrary.org/obo/UBERON_0000059 intestinum crassum UBERON:0024045 white matter of the cerebellar cortex biolink:AnatomicalEntity mondo White matter that lies deep to the granular cell layer of the cerebellar cortex. It contains afferents to the cerebellar cortex and axons that run between the cerebellar cortex and the deep cerebellar nuclei. http://purl.obolibrary.org/obo/UBERON_0024045 white matter of the cerebellar cortex MONDO:0003429 functioning pituitary gland adenoma biolink:Disease mondo NCIT:C8388|Orphanet:314753|DOID:5395|UMLS:C0854486 A hormone producing pituitary gland adenoma, associated with a hormonal syndrome. ORPHA:314753|DOID:5395|NCIT:C8388|UMLS:C0854486 http://purl.obolibrary.org/obo/MONDO_0003429 secretory adenoma of the pituitary|secreting pituitary adenoma|secretory adenoma of pituitary|functioning adenoma of the pituitary gland|functioning pituitary adenoma|functioning adenoma of pituitary gland|functioning adenoma of the pituitary|functioning adenoma of pituitary|secretory adenoma of the pituitary gland|functioning pituitary gland adenoma (benign)|functioning pituitary gland adenoma|endocrine active pituitary adenoma|secretory pituitary gland adenoma|secretory pituitary adenoma|secretory adenoma of pituitary gland ordo_group_of_disorders UBERON:0000053 macula lutea biolink:AnatomicalEntity mondo An oval area in the retina, usually located temporal to the posterior pole of the eye and slightly below the level of the optic disk. It is characterized by the presence of a yellow pigment diffusely permeating the inner layers, contains the fovea centralis in its center, and provides the best phototopic visual acuity. It is devoid of retinal blood vessels, except in its periphery, and receives nourishment from the choriocapillaris of the choroid. (From Cline et al., Dictionary of Visual Science, 4th ed) http://purl.obolibrary.org/obo/UBERON_0000053 macula retinae|macula|macula flava retinae|maculae HGNC:9479 LONP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9479 HGNC:9476 HTRA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9476 UBERON:0000055 vessel biolink:AnatomicalEntity mondo A tubular structure that contains, conveys body fluid, such as blood or lymph. http://purl.obolibrary.org/obo/UBERON_0000055 UBERON:0000056 ureter biolink:AnatomicalEntity mondo Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. http://purl.obolibrary.org/obo/UBERON_0000056 metanephric duct HGNC:9477 PRSS12 biolink:OntologyClass mondo http://identifiers.org/hgnc/9477 MONDO:0003403 testicular non-seminomatous germ cell cancer biolink:Disease mondo DOID:5345|NCIT:C5027|UMLS:C1334625 A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor. NCIT:C5027|UMLS:C1334625|DOID:5345 http://purl.obolibrary.org/obo/MONDO_0003403 testicular nonseminomatous germ cell tumor, NOS|testicular nonseminomat. GCT, NOS|testicular non-seminomatous germ cell cancer|malignant non-seminomatous germ cell cancer of testis|malignant testicular non-seminomatous germ cell tumor|malignant non-seminomatous germ cell cancer of the testis|testicular non-seminomatous germ cell tumor, malignant|testicular germ cell tumor non-seminomatous, malignant|malignant non-seminomatous germ cell tumor of the testis|malignant testicular non-seminomatous germ cell neoplasm|testicular non-seminomatous malignant germ cell neoplasm|malignant non-seminomatous germ cell neoplasm of testis|malignant non-seminomatous germ cell tumor of testis|malignant non-seminomatous germ cell neoplasm of the testis GO:0048762 mesenchymal cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. http://purl.obolibrary.org/obo/GO_0048762 MONDO:0003404 adult yolk sac tumor biolink:Disease mondo UMLS:C1332221|NCIT:C27241|DOID:5348 A yolk sac tumor that occurs in an adult. NCIT:C27241|UMLS:C1332221|DOID:5348 http://purl.obolibrary.org/obo/MONDO_0003404 yolk Sac tumor|adult yolk Sac neoplasm|yolk sac tumor of adults|adult endodermal sinus tumor|adult endodermal sinus neoplasm|adult yolk Sac tumor UBERON:0014680 distal interphalangeal joint of digit 5 biolink:AnatomicalEntity mondo A distal interphalangeal joint that is part of a digit 5. http://purl.obolibrary.org/obo/UBERON_0014680 distal interphalangeal joint 5|distal interphalangeal joint of digit V MONDO:0003405 adult central nervous system germ cell tumor biolink:Disease mondo UMLS:C0280796|NCIT:C6285|DOID:5349 A germ cell tumor of the central nervous system occurring in adults. NCIT:C6285|UMLS:C0280796|DOID:5349 http://purl.obolibrary.org/obo/MONDO_0003405 central nervous system germ cell tumor of adults|germ cell tumor of the adult central nervous system|adult CNS germ cell neoplasm|germ cell neoplasm of the adult CNS|germ cell neoplasm of adult CNS|adult CNS germ cell tumor|adult central nervous system germ cell tumor|germ cell neoplasm of adult central nervous system|germ cell neoplasm of the adult central nervous system|germ cell tumor of the adult CNS|germ cell tumor of adult CNS|central nervous system germ cell tumor|central nervous system adult germ cell tumor|adult central nervous system germ cell neoplasm|germ cell tumor of adult central nervous system MONDO:0003406 sleep-wake disorder biolink:Disease mondo ICD9:307.49|DOID:535|EFO:0008568|ICD9:307.40|SCTID:39898005|ICD9:307.4|ICD10:G47|MESH:D012893 Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. MESH:D012893|SNOMEDCT:39898005|DOID:535 http://purl.obolibrary.org/obo/MONDO_0003406 sleep disorder|disorders of the sleep-wake schedule|short sleep phenotypes|sleep-related neurogenic Tachypneas|sleep wake disorder|wake disorder, sleep|phenotype, short sleep|Subwakefullness syndrome|sleeper syndromes, long|syndromes, long sleeper|disturbed nyctohemeral rhythm|syndrome, long sleeper|syndrome, Subwakefullness|syndromes, Subwakefullness|disorders, sleep wake|sleep phenotypes, short|phenotypes, short sleep|disorder of sleep-wake cycle|disorder, sleep|non-organic sleep disorder|sleeper syndromes, short|short sleeper syndromes|long sleeper syndromes|long sleeper syndrome|disorder, sleep wake|neurogenic tachypnea, sleep-related|short sleeper syndrome|disorders, sleep|Tachypneas, sleep-related neurogenic|tachypnea, sleep-related neurogenic|neurogenic Tachypneas, sleep-related|sleep related neurogenic tachypnea|sleeper syndrome, long|wake disorders, sleep|Subwakefullness syndromes|sleep-related neurogenic tachypnea|syndrome, short sleeper|short sleep phenotype|sleeper syndrome, short|circadian dysregulation|sleep disorders|syndromes, short sleeper|disorder of sleep-wake schedule UBERON:0000039 follicular antrum biolink:AnatomicalEntity mondo Region of ovarian follicle filled with follicular fluid. http://purl.obolibrary.org/obo/UBERON_0000039 antrum follicularum|ovarian follicle antrum|antral cavity|antrum folliculare MONDO:0003400 childhood endodermal sinus tumor biolink:Disease mondo DOID:5342|UMLS:C1333016|NCIT:C27364 A yolk sac tumor that occurs during childhood. NCIT:C27364|UMLS:C1333016|DOID:5342 http://purl.obolibrary.org/obo/MONDO_0003400 childhood yolk Sac tumor|childhood endodermal sinus tumor|childhood endodermal sinus neoplasm|pediatric yolk Sac neoplasm|pediatric yolk Sac tumor|pediatric endodermal sinus neoplasm|childhood yolk Sac neoplasm MONDO:0003401 central nervous system endodermal sinus tumor biolink:Disease mondo DOID:5343|NCIT:C6209 A yolk sac tumor that arises from the central nervous system and occurs during childhood. NCIT:C6209|DOID:5343 http://purl.obolibrary.org/obo/MONDO_0003401 central nervous system endodermal sinus tumor|pediatric central nervous system endodermal sinus tumor|pediatric central nervous system yolk Sac neoplasm|central nervous system yolk sac tumor|central nervous system yolk Sac tumor|childhood central nervous system endodermal sinus neoplasm|childhood central nervous system endodermal sinus tumor|pediatric central nervous system endodermal sinus neoplasm|childhood central nervous system yolk Sac neoplasm|yolk Sac tumor of the CNS|pediatric central nervous system yolk Sac tumor|childhood central nervous system yolk Sac tumor MONDO:0003402 testicular yolk sac tumor biolink:Disease mondo DOID:5344|NCIT:C8000|GARD:0000348|EFO:1000574|UMLS:C0279708|ONCOTREE:TYST A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation. DOID:5344|UMLS:C0279708|NCIT:C8000 http://purl.obolibrary.org/obo/MONDO_0003402 yolk Sac neoplasm of the testis|testicular yolk Sac neoplasm|Orchidoblastoma|yolk Sac tumor of testis|yolk Sac tumor of the testis|testicular endodermal sinus tumor|endodermal-sinus tumor|endodermal sinus neoplasm of testis|testicular endodermal sinus neoplasm|endodermal sinus neoplasm of the testis|endodermal sinus tumor of testis|testis yolk sac tumor|endodermal sinus tumor of the testis|testicular yolk sac tumor|yolk sac tumor|yolk Sac neoplasm of testis gard_rare UBERON:0014687 temporal sulcus biolink:AnatomicalEntity mondo Any of three grooves in the temporal lobe including the inferior, middle, and superior temporal sulci. http://purl.obolibrary.org/obo/UBERON_0014687 temporal lobe sulci|temporal lobe sulcus UBERON:0014686 angular vein biolink:AnatomicalEntity mondo The angular vein formed by the junction of the frontal vein and supraorbital vein, runs obliquely downward, on the side of the root of the nose, to the level of the lower margin of the orbit, where it becomes the anterior facial vein. It receives the external nasal veins of the ala nasi, and communicates with the superior ophthalmic vein through the nasofrontal vein, thus establishing an important anastomosis between the anterior facial vein and the cavernous sinus. http://purl.obolibrary.org/obo/UBERON_0014686 NCBITaxon:1809 Mycobacterium ulcerans organism taxon mondo PMID:12089250|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1809 UBERON:0000047 simple eye biolink:AnatomicalEntity mondo An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. http://purl.obolibrary.org/obo/UBERON_0000047 HGNC:9483 PRSS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9483 UBERON:0000042 serous membrane biolink:AnatomicalEntity mondo multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. http://purl.obolibrary.org/obo/UBERON_0000042 wall of serous sac|tunica serosa|serosa UBERON:0000043 tendon biolink:AnatomicalEntity mondo Dense regular connective tissue that connects muscle to bone[VSAO]. http://purl.obolibrary.org/obo/UBERON_0000043 sinew|tendo UBERON:0000045 ganglion biolink:AnatomicalEntity mondo A biological tissue mass, most commonly a mass of nerve cell bodies. http://purl.obolibrary.org/obo/UBERON_0000045 ganglia|neural ganglion MONDO:0003414 skin pilomatrix carcinoma biolink:Disease mondo DOID:5376|ICDO:8110/3|NCIT:C4114|Orphanet:499182|ICD10:C44.4|ICD10:C44.3|UMLS:C0585475|SCTID:307610008 A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites. ORPHA:499182|NCIT:C4114|SNOMEDCT:307610008|UMLS:C0585475|DOID:5376 http://purl.obolibrary.org/obo/MONDO_0003414 Pilomatrical carcinoma|pilomatrix carcinoma of the skin|pilomatrix skin carcinoma|pilomatrix carcinoma|calcified epithelial carcinoma of Malherbe|pilomatrix carcinoma of skin|invasive pilomatrixoma|pilomatricoma, malignant|malignant pilomatricoma|matrical carcinoma|Trichomatrical carcinoma|calcifying epitheliocarcinoma ordo_disease GO:0046110 xanthine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolism MONDO:0003415 obsolete hemoglobin d disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003415 MONDO:0003416 obsolete hemoglobin E disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003416 MONDO:0003417 internuclear ophthalmoplegia biolink:Disease mondo UMLS:C0152134|ICD10:H51.2|ICD9:378.86|SCTID:49823009|DOID:538|COHD:376698 UMLS:C0152134|DOID:538|SNOMEDCT:49823009 http://purl.obolibrary.org/obo/MONDO_0003417 UBERON:0014671 distal interphalangeal joint of manural digit 5 biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014671 distal interphalangeal joint of manural digit V|distal interphalangeal joint of little finger MONDO:0003410 Wolffian duct adenocarcinoma biolink:Disease mondo NCIT:C40254|DOID:5368|UMLS:C1516419 A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells. UMLS:C1516419|NCIT:C40254|DOID:5368 http://purl.obolibrary.org/obo/MONDO_0003410 mesonephric duct adenocarcinoma|Wolffian duct adenocarcinoma|cervical mesonephric adenocarcinoma MONDO:0003411 breast hemangiopericytoma biolink:Disease mondo DOID:5370|UMLS:C1511313|NCIT:C40396 A hemangiopericytoma arising from the breast. NCIT:C40396|DOID:5370|UMLS:C1511313 http://purl.obolibrary.org/obo/MONDO_0003411 breast hemangiopericytoma|breast spindle cell tumor UBERON:0000029 lymph node biolink:AnatomicalEntity mondo Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph. http://purl.obolibrary.org/obo/UBERON_0000029 lymph gland|nodus lymphaticus MONDO:0003412 retroperitoneal hemangiopericytoma biolink:Disease mondo UMLS:C1335777|DOID:5373|NCIT:C5386 A benign or malignant hemangiopericytoma arising from the retroperitoneum. NCIT:C5386|UMLS:C1335777|DOID:5373 http://purl.obolibrary.org/obo/MONDO_0003412 retroperitoneal space hemangiopericytoma HGNC:9490 TMPRSS15 biolink:OntologyClass mondo http://identifiers.org/hgnc/9490 CHEBI:23423 pseudohalogen oxoacid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23423 MONDO:0003413 hair follicle neoplasm biolink:Disease mondo DOID:5375|NCIT:C7367|UMLS:C0859920 A benign or malignant neoplasm arising from the hair follicle. UMLS:C0859920|DOID:5375|NCIT:C7367 http://purl.obolibrary.org/obo/MONDO_0003413 hair follicle neoplasm|hair matrix neoplasm|neoplasm of the hair follicle|hair follicle neoplasm (disease)|hair matrix tumor|tumor of hair follicle|neoplasm of hair follicle|hair matrix tumour|hair follicle tumor CHEBI:35406 oxoanion biolink:ChemicalSubstance mondo An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen. http://purl.obolibrary.org/obo/CHEBI_35406 oxoacid anions|oxoanions|oxoanion NCBITaxon:1817 Nocardia organism taxon mondo PMID:7537058|GC_ID:11|PMID:7547284 http://purl.obolibrary.org/obo/NCBITaxon_1817 Micropolyspora GO:0048770 pigment granule biolink:OntologyClass mondo A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes. http://purl.obolibrary.org/obo/GO_0048770 GO:0048771 tissue remodeling biolink:OntologyClass mondo The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. http://purl.obolibrary.org/obo/GO_0048771 UBERON:0014675 distal interphalangeal joint of pedal digit 5 biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014675 distal interphalangeal joint of little toe|distal interphalangeal joint of fifth toe|distal interphalangeal joint of pedal digit V|distal interphalangeal joint of fifth digit of foot UBERON:0000030 lamina propria biolink:AnatomicalEntity mondo A thin layer of loose connective tissue which lies beneath the epithelium and together with the epithelium constitutes the mucosa[WP]. The lamina propria contains capillaries and a central lacteal (lymph vessel) in the small intestine, as well as lymphoid tissue. Lamina propria also contains glands with the ducts opening on to the mucosal epithelium, that secrete mucus and serous secretions. http://purl.obolibrary.org/obo/UBERON_0000030 lamina propria mucosa|lamina propria mucosae|tunica propria UBERON:0000038 follicular fluid biolink:AnatomicalEntity mondo The fluid surrounding the ovum and granulosa cells in the ovarian follicle. http://purl.obolibrary.org/obo/UBERON_0000038 ovary follicle fluid|liquor folliculi|ovarian follicular fluid|liquor follicularis|ovary follicular fluid|liquor folliculi|antral fluid, ovarian follicle UBERON:0000031 lamina propria of trachea biolink:AnatomicalEntity mondo A lamina propria that is part of a respiratory airway. http://purl.obolibrary.org/obo/UBERON_0000031 trachea lamina propria|lamina propria mucosa of windpipe|windpipe lamina propria|lamina propria mucosa of trachea|tracheal lamina propria|lamina propria mucosae of trachea|windpipe lamina propria mucosa|lamina propria mucosae of windpipe|trachea lamina propria mucosa|trachea lamina propria mucosae|lamina propria of windpipe|windpipe lamina propria mucosae MONDO:0003407 obsolete ovarian yolk sac tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003407 MONDO:0003408 ovarian primitive germ cell tumor biolink:Disease mondo NCIT:C39986|DOID:5351|UMLS:C1518727 A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component. UMLS:C1518727|NCIT:C39986|DOID:5351 http://purl.obolibrary.org/obo/MONDO_0003408 ovarian primitive germ cell tumor SO:0001411 biological_region biolink:SequenceFeature mondo A region defined by its disposition to be involved in a biological process. http://purl.obolibrary.org/obo/SO_0001411 INSDC_note:biological_region|INSDC_misc_feature|biological region MONDO:0003409 colonic disease biolink:Disease mondo DOID:5353|UMLS:C0009373|MESH:D003108|SCTID:128524007 Pathological processes in the colon region of the large intestine (intestine, large). SNOMEDCT:128524007|MESH:D003108|UMLS:C0009373|DOID:5353 http://purl.obolibrary.org/obo/MONDO_0003409 disorder of colon|colon disease|colon disorder|disease or disorder of colon|disease of colon|colon disease or disorder|disorder of colon UBERON:0000033 head biolink:AnatomicalEntity mondo The head is the anterior-most division of the body [GO]. http://purl.obolibrary.org/obo/UBERON_0000033 head (volume)|adult head|cephalic area HGNC:9498 PSAP biolink:OntologyClass mondo http://identifiers.org/hgnc/9498 MONDO:0003469 epithelioid cell synovial sarcoma biolink:Disease mondo NCIT:C4278|UMLS:C0334506|ICDO:9042/3|DOID:5494 A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures. DOID:5494|NCIT:C4278|UMLS:C0334506 http://purl.obolibrary.org/obo/MONDO_0003469 epithelial sarcoma of synovium|epithelial sarcoma of the synovium|epithelioid cell sarcoma of synovium|epithelioid synovial sarcoma|epithelioid cell sarcoma of the synovium|synovial sarcoma, epithelioid cell (morphologic abnormality)|synovial sarcoma, epithelioid cell|epithelial synovial sarcoma UBERON:0012082 bronchial lumen biolink:AnatomicalEntity mondo An anatomical cavity that is part of a bronchus. http://purl.obolibrary.org/obo/UBERON_0012082 lumen of bronchus|bronchial lumen UBERON:0012081 patella pre-cartilage condensation biolink:AnatomicalEntity mondo A pre-cartilage condensation that has the potential to develop into a patella. http://purl.obolibrary.org/obo/UBERON_0012081 UBERON:0012080 patella cartilage element biolink:AnatomicalEntity mondo A cartilaginous condensation that has the potential to develop into a patella. http://purl.obolibrary.org/obo/UBERON_0012080 MONDO:0003465 fibrous synovial sarcoma biolink:Disease mondo NCIT:C6533|UMLS:C1333616|DOID:5484 UMLS:C1333616|DOID:5484|NCIT:C6533 http://purl.obolibrary.org/obo/MONDO_0003465 fibrous sarcoma of the synovium|fibrous sarcoma of synovium MONDO:0003466 spindle cell synovial sarcoma biolink:Disease mondo NCIT:C4277|DOID:5487|ICDO:9041/3|UMLS:C0334505 A synovial sarcoma characterized by the presence of a spindle cell component only. DOID:5487|NCIT:C4277|UMLS:C0334505 http://purl.obolibrary.org/obo/MONDO_0003466 synovial sarcoma with spindle cell components|synovial sarcoma, monophasic fibrous UBERON:0012085 lumen of tertiary bronchus biolink:AnatomicalEntity mondo An anatomical cavity that is part of a segmental bronchus. http://purl.obolibrary.org/obo/UBERON_0012085 segmental bronchial lumen|lumen of segmental bronchus UBERON:0012084 lumen of secondary bronchus biolink:AnatomicalEntity mondo An anatomical cavity that is part of a lobar bronchus. http://purl.obolibrary.org/obo/UBERON_0012084 lobar bronchial lumen|lumen of lobar bronchus|secondary bronchial lumen MONDO:0003467 mediastinum synovial sarcoma biolink:Disease mondo UMLS:C1334681|DOID:5488|NCIT:C6618 A synovial sarcoma arising from the mediastinum. DOID:5488|NCIT:C6618|UMLS:C1334681 http://purl.obolibrary.org/obo/MONDO_0003467 synovial sarcoma of the mediastinum|mediastinum synovial sarcoma (disease)|synovial sarcoma of mediastinum|mediastinal synovial sarcoma UBERON:0012083 lumen of primary bronchus biolink:AnatomicalEntity mondo An anatomical cavity that is part of a main bronchus. http://purl.obolibrary.org/obo/UBERON_0012083 principal bronchial lumen|main bronchial lumen|lumen of main bronchus MONDO:0003468 biphasic synovial sarcoma biolink:Disease mondo NCIT:C4279|UMLS:C0334507|ICDO:9043/3|DOID:5492 A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component. DOID:5492|NCIT:C4279|UMLS:C0334507 http://purl.obolibrary.org/obo/MONDO_0003468 synovial sarcoma, biphasic (morphologic abnormality)|biphasic sarcoma of the synovium|synovial sarcoma, biphasic|biphasic sarcoma of synovium MONDO:0003461 fallopian tube serous adenofibroma biolink:Disease mondo DOID:5478|NCIT:C40113|UMLS:C1517109 A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium. UMLS:C1517109|NCIT:C40113|DOID:5478 http://purl.obolibrary.org/obo/MONDO_0003461 fallopian tube adenofibroma|fallopian tube serous adenofibroma|serous adenofibroma of fallopian tube MONDO:0003462 papillary adenofibroma biolink:Disease mondo DOID:5479|UMLS:C1377850|NCIT:C8986 A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma. DOID:5479|NCIT:C8986|UMLS:C1377850 http://purl.obolibrary.org/obo/MONDO_0003462 papillary adenofibroma ENVO:02500000 environmental system process biolink:OntologyClass mondo A process in which includes the components of an environmental system as participants. http://purl.obolibrary.org/obo/ENVO_02500000 MONDO:0003463 ovarian endometrioid adenofibroma biolink:Disease mondo UMLS:C2212024|NCIT:C27287|ICDO:8381/0|ICDO:8380/0|DOID:5480 A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma. DOID:5480|NCIT:C27287|UMLS:C2212024 http://purl.obolibrary.org/obo/MONDO_0003463 ovarian endometrioid adenofibroma MONDO:0003464 cystadenofibroma biolink:Disease mondo NCIT:C8985|MESH:D062625|DOID:5482 A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue. DOID:5482|NCIT:C8985|MESH:D062625 http://purl.obolibrary.org/obo/MONDO_0003464 cystadenofibroma, NOS|cystadenofibroma GO:1902850 microtubule cytoskeleton organization involved in mitosis biolink:OntologyClass mondo Any microtubule cytoskeleton organization that is involved in mitosis. http://purl.obolibrary.org/obo/GO_1902850 microtubule cytoskeleton organisation involved in mitosis|microtubule dynamics involved in mitosis|microtubule cytoskeleton organization and biogenesis involved in mitosis ENVO:02500003 atmospheric process biolink:OntologyClass mondo A process which occurs within an atmosphere. http://purl.obolibrary.org/obo/ENVO_02500003 MONDO:0003460 clear cell adenofibroma biolink:Disease mondo DOID:5477|ICDO:8313/0|NCIT:C8987 A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma. NCIT:C8987|DOID:5477 http://purl.obolibrary.org/obo/MONDO_0003460 clear cell adenofibroma|clear cell adenofibroma (morphologic abnormality) MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome biolink:Disease mondo GARD:0012487|ICD10:Q87.8|Orphanet:1495|UMLS:CN199578|SCTID:722455002 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. SNOMEDCT:722455002|ORPHA:1495|UMLS:CN199578 http://purl.obolibrary.org/obo/MONDO_0015458 Da Silva syndrome|intellectual disability - hypoplastic corpus callosum - preauricular tag ordo_malformation_syndrome MONDO:0015457 corpus callosum agenesis-double urinary collecting system syndrome biolink:Disease mondo GARD:0001536|MESH:C535427|GARD:0000852|UMLS:C2930897|Orphanet:1492 ORPHA:1492|MESH:C535427|UMLS:C2930897 http://purl.obolibrary.org/obo/MONDO_0015457 agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies|corpus callosum agenesis - double urinary collecting system|Ben Ari Shuper Mimouni syndrome|corpus callosum agenesis double urinary collecting|Ben Ari-Shuper-Mimouni syndrome|corpus callosum agenesis-double urinary collecting system syndrome ordo_malformation_syndrome|gard_rare MONDO:0015456 obsolete whooping cough biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015456 MONDO:0015455 gonococcal conjunctivitis biolink:Disease mondo GARD:0002546|ICD10:H13.1*|SCTID:231858009|Orphanet:1482|NCIT:C116816|ICD10:A54.3+|ICD10:A54.31 Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. ORPHA:1482|UMLS:C0339166|NCIT:C116816|SNOMEDCT:231858009 http://purl.obolibrary.org/obo/MONDO_0015455 gonococcal ophthalmia neonatorum|conjunctivitis gonococcal|gonococcal ophthalmia neonatorum gard_rare|ordo_disease MONDO:0015459 nasopharyngeal carcinoma biolink:Disease mondo ICD10:C11.2|MESH:C538339|ICD9:147|ICD10:C11.1|ICD10:C11.0|NCIT:C3871|DOID:9261|UMLS:C3665551|MESH:D00007727|UMLS:CN199582|UMLS:C2931822|ICD10:C11|ICD9:147.9|MedDRA:10028793|UMLS:C0153396|Orphanet:150|ICD9:147.2|UMLS:C0153395|ONCOTREE:NPC|UMLS:C0153394|UMLS:C0153393|SCTID:363398003|ICD9:147.3|ICD10:C11.9|ICD9:147.1|UMLS:C3647449|ICD10:C11.3|ICD9:147.0 A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma. MESH:C538339|NCIT:C3871|UMLS:C3665551|UMLS:C3647449|ORPHA:150|SNOMEDCT:363398003|MESH:D00007727|UMLS:CN199582|DOID:9261|MEDDRA:10028793|UMLS:C0153393|UMLS:C0153394|UMLS:C0153395|UMLS:C0153396|UMLS:C2931822 http://purl.obolibrary.org/obo/MONDO_0015459 nasopharyngeal cancer|malignant tumor of posterior wall of nasopharynx|malignant neoplasm of superior wall of nasopharynx|NPC|carcinoma of nasopharynx|malignant neoplasm of other specified sites of nasopharynx|malignant neoplasm of roof of nasopharynx|malignant neoplasm of posterior wall of nasopharynx|nasopharyngeal carcinoma|carcinoma of the nasopharynx|nasopharynx carcinoma|malignant neoplasm of nasopharynx (disorder) [ambiguous]|cancer of the nasopharynx|malignant neoplasm of nasopharyngeal wall NOS|malignant neoplasm of nasopharyngeal wall|nasopharyngeal throat cancer|cancer of nasopharynx|nasopharynx cancer|malignant tumor of lateral wall of nasopharynx|malignant neoplasm of anterior wall of nasopharynx|malignant tumor of anterior wall of nasopharynx|primary malignant neoplasm of anterior wall of nasopharynx|malignant neoplasm of lateral wall of nasopharynx|malignant neoplasm of nasopharynx|malignant nasopharyngeal tumor|squamous cell carcinoma of the nasopharynx ordo_disease MONDO:0015450 triatrial heart biolink:Disease mondo Orphanet:1463|ICD9:746.82|SCTID:55510008|ICD10:Q24.2|NCIT:C84651|GARD:0006194|COHD:441108 A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities. NCIT:C84651|ORPHA:1463|SNOMEDCT:55510008 http://purl.obolibrary.org/obo/MONDO_0015450 Cor triatriatum ordo_group_of_disorders MONDO:0015454 multiple carboxylase deficiency biolink:Disease mondo DOID:857|MESH:D009100|ICD10:D81.819|Orphanet:148|UMLS:C0026755|MedDRA:10028176|GARD:0003824|ICD10:D81.81|ICD10:E53.8 Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. ORPHA:148|UMLS:C0026755|DOID:857|MEDDRA:10028176|MESH:D009100 http://purl.obolibrary.org/obo/MONDO_0015454 MCD|multiple carboxylase deficiency ordo_group_of_disorders GO:0097711 ciliary basal body-plasma membrane docking biolink:OntologyClass mondo The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. http://purl.obolibrary.org/obo/GO_0097711 anchoring of the basal body to the plasma membrane|ciliary basal body docking MONDO:0015453 Cogan syndrome biolink:Disease mondo UMLS:CN199560|GARD:0001421|SCTID:405810005|ICD10:H16.32|Orphanet:1467|MedDRA:10056667|DOID:0060216|ICD10:H16.3|MESH:D055952 Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases. ORPHA:1467|MESH:D055952|UMLS:CN199560|DOID:0060216|MEDDRA:10056667|SNOMEDCT:405810005 http://purl.obolibrary.org/obo/MONDO_0015453 Cogan's syndrome|diffuse interstitual keratitis|Cogan syndrome gard_rare|ordo_disease GO:0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment biolink:OntologyClass mondo The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. http://purl.obolibrary.org/obo/GO_0097712 MONDO:0015452 Coffin-Siris syndrome biolink:Disease mondo MESH:C536436|NCIT:C35321|Orphanet:1465|GARD:0006124|UMLS:C0265338|ICD9:759.89|DOID:1925|OMIMPS:135900|ICD10:Q87.1|SCTID:10007009 Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. ORPHA:1465|UMLS:C0265338|MESH:C536436|SNOMEDCT:10007009|DOID:1925|NCIT:C35321 http://purl.obolibrary.org/obo/MONDO_0015452 fifth digit syndrome|dwarfism-onychodysplasia|short stature-onychodysplasia.|CSS|intellectual disability with absent fifth fingernail and terminal phalanx ordo_malformation_syndrome MONDO:0015451 univentricular heart biolink:Disease mondo Orphanet:1464|ICD9:746.89|MedDRA:10045545|ICD10:Q20.4|SCTID:253283000 Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities. SNOMEDCT:253283000|MEDDRA:10045545|ORPHA:1464 http://purl.obolibrary.org/obo/MONDO_0015451 Double inlet left ventricle ordo_morphological_anomaly UBERON:0012071 palate bone biolink:AnatomicalEntity mondo Any bone that is part of a palate. http://purl.obolibrary.org/obo/UBERON_0012071 palatal bone UBERON:0012070 palatal tooth biolink:AnatomicalEntity mondo A tooth that is on the roof of the mouth. http://purl.obolibrary.org/obo/UBERON_0012070 palatal teeth MONDO:0003476 clear cell ependymoma biolink:Disease mondo ONCOTREE:CCE|NCIT:C4714|DOID:5507 An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo. DOID:5507|NCIT:C4714 http://purl.obolibrary.org/obo/MONDO_0003476 clear cell ependymoma UBERON:0012075 replacement bone biolink:AnatomicalEntity mondo Bone that forms as a replacement of another structural tissue. http://purl.obolibrary.org/obo/UBERON_0012075 replacement bones UBERON:0012074 bony part of hard palate biolink:AnatomicalEntity mondo A subdivision of skeletal system that subdivision_of a hard palate. http://purl.obolibrary.org/obo/UBERON_0012074 bony palate|palatum osseum|hard palate skeleton MONDO:0003477 brain stem ependymoma biolink:Disease mondo NCIT:C5098|UMLS:C1332609|DOID:5508 An ependymoma that arises from the brain stem. DOID:5508|UMLS:C1332609|NCIT:C5098 http://purl.obolibrary.org/obo/MONDO_0003477 ependymoma of the brainstem|brain stem ependymoma|ependymoma of brain stem|ependymoma of the brain stem|brainstem ependymoma|ependymoma of brainstem MONDO:0003478 childhood ependymoma biolink:Disease mondo MESH:C531673|NCIT:C8578|DOID:5509 An ependymoma that arises from the central nervous system and occurs during childhood. DOID:5509|NCIT:C8578|MESH:C531673 http://purl.obolibrary.org/obo/MONDO_0003478 ependymoma|ependymoma of childhood|pediatric ependymoma|childhood ependymoma|pediatric ependymoma MONDO:0003479 toxic pneumonitis biolink:Disease mondo ICD9:506.9|UMLS:C3714582|SCTID:233733000|DOID:551 A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. DOID:551|SNOMEDCT:233733000|UMLS:C3714582 http://purl.obolibrary.org/obo/MONDO_0003479 acute chemical pulmonary edema|acute chemical fume pulmonary edema UBERON:0012072 palatal part of dermatocranium biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012072 palatal series|dermatocranium, palatal series MONDO:0003472 lice infestation biolink:Disease mondo UMLS:C0277351|UMLS:C0153317|COHD:132253|ICD9:132.9|UMLS:C0030756|MESH:D010373|NCIT:C128401|ICD10:B85.2|DOID:5502 A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash. NCIT:C128401|UMLS:C0277351|MESH:D010373|UMLS:C0153317|DOID:5502|UMLS:C0030756 http://purl.obolibrary.org/obo/MONDO_0003472 lice infestation, NOS|pediculosis and Phthirus infestation|pediculosis and Phthirus infections|pediculosis and Phthirus infection|pediculosis, unspecified|louse infestation (& [pediculosis and Phthirus] or [lice])|pediculosis|pediculosis + lice NOS|mixed pediculosis infestation|infections, Pediculus humanus|mixed pediculosis|pediculosis + lice|infestation by Pediculus|Pediculus humanus infection|louse infestation MONDO:0003473 spinal cord ependymoma biolink:Disease mondo SCTID:254949006|NCIT:C3875|UMLS:C0238432|DOID:5503 An ependymoma that arises from the spinal cord. SNOMEDCT:254949006|UMLS:C0238432|NCIT:C3875|DOID:5503 http://purl.obolibrary.org/obo/MONDO_0003473 ependymoma of the spinal cord|ependymoma of spinal cord|spinal cord ependymoma|ependymal neoplasm of the spinal cord MONDO:0003474 tanycytic ependymoma biolink:Disease mondo UMLS:C1370500|NCIT:C6903|DOID:5504 A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.) UMLS:C1370500|NCIT:C6903|DOID:5504 http://purl.obolibrary.org/obo/MONDO_0003474 tanycytic ependymoma MONDO:0003475 papillary ependymoma biolink:Disease mondo ICDO:9393/3|NCIT:C4319|DOID:5505|UMLS:C0334578 A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO) DOID:5505|NCIT:C4319|UMLS:C0334578 http://purl.obolibrary.org/obo/MONDO_0003475 papillary ependymoma GO:0046137 negative regulation of vitamin metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/GO_0046137 downregulation of vitamin metabolic process|inhibition of vitamin metabolic process|down-regulation of vitamin metabolic process|negative regulation of vitamin metabolism|down regulation of vitamin metabolic process GO:0046136 positive regulation of vitamin metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/GO_0046136 positive regulation of vitamin metabolism|up-regulation of vitamin metabolic process|up regulation of vitamin metabolic process|activation of vitamin metabolic process|stimulation of vitamin metabolic process|upregulation of vitamin metabolic process MONDO:0003470 cellular ependymoma biolink:Disease mondo DOID:5500|NCIT:C4713|UMLS:C1384403 An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO) UMLS:C1384403|NCIT:C4713|DOID:5500 http://purl.obolibrary.org/obo/MONDO_0003470 MONDO:0003471 Pediculus humanus capitis infestation biolink:Disease mondo DOID:5501|ICD10:B85.0|SCTID:81000006|ICD9:132.0|UMLS:C0030757 A infectious disease involving Pediculus humanus capitis. SNOMEDCT:81000006|DOID:5501|UMLS:C0030757 http://purl.obolibrary.org/obo/MONDO_0003471 infections, Pediculus humanus capitis|Pediculus capitis|Pediculus humanus capitis infection|Pediculus capitis [head louse]|pediculosis capitis|Pediculus capitis infestation|head louse infestation MONDO:0015447 differentiated thyroid carcinoma biolink:Disease mondo EFO:1002017|ICD10:C73|UMLS:C1337013|NCIT:C7153|Orphanet:146|ONCOTREE:WDTC Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass. ORPHA:146|NCIT:C7153|UMLS:C1337013 http://purl.obolibrary.org/obo/MONDO_0015447 papillary or follicular thyroid carcinoma|well differentiated thyroid gland carcinoma|thyroid gland differentiated carcinoma|thyroid gland well differentiated carcinoma|well-differentiated thyroid cancer|differentiated thyroid cancer|differentiated thyroid gland carcinoma|well differentiated thyroid carcinoma|differentiated thyroid gland cancer|well-differentiated thyroid carcinoma|differentiated thyroid carcinoma ordo_disease UBERON:0000093 sulcus biolink:AnatomicalEntity mondo A depression or fissure in the surface of an organ. http://purl.obolibrary.org/obo/UBERON_0000093 UBERON:0000094 membrane organ biolink:AnatomicalEntity mondo Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA] http://purl.obolibrary.org/obo/UBERON_0000094 membrane|membrane of organ MONDO:0015446 atypical coarctation of aorta biolink:Disease mondo Orphanet:1456|ICD10:Q25.1|UMLS:C3496579|SCTID:471268000|UMLS:C3805239 Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). UMLS:C3496579|ORPHA:1456|SNOMEDCT:471268000|UMLS:C3805239 http://purl.obolibrary.org/obo/MONDO_0015446 coarctation of the abdominal aorta|mid-aortic syndrome|Midaortic syndrome|mid-aortic dysplastic syndrome|middle aortic syndrome ordo_clinical_subtype MONDO:0015445 autosomal dominant coarctation of aorta biolink:Disease mondo Orphanet:1455|ICD10:Q25.1 Autosomal dominant form of aorta coarctation. ORPHA:1455|MESH:C531623|UMLS:C2930803 http://purl.obolibrary.org/obo/MONDO_0015445 autosomal dominant aorta coarctation|aorta coarctation, autosomal dominant ordo_clinical_subtype UBERON:0000095 cardiac neural crest biolink:AnatomicalEntity mondo portion of neural crest that develops from the dorsal neural tube. It overlaps the vagal neural crest and migrates to populate the pharyngeal arches 3, 4 and 6 (producing structures in the head) and to the heart, forming connective tissue that separates the great vessels of the heart. [Wikipedia] http://purl.obolibrary.org/obo/UBERON_0000095 cardiac neural crest complex|complexus cristae neuralis cardiacus MONDO:0015444 obsolete cleidocranial dysplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015444 MONDO:0015449 criss-cross heart biolink:Disease mondo MESH:D003420|ICD9:746.89|SCTID:253269002|Orphanet:1461|ICD10:Q24.8 Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects. MESH:D003420|SNOMEDCT:253269002|ORPHA:1461 http://purl.obolibrary.org/obo/MONDO_0015449 superoinferior ventricles|twisted atrioventricular connections|criss-cross atrioventricular relationships ordo_morphological_anomaly UBERON:0000091 bilaminar disc biolink:AnatomicalEntity mondo A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. http://purl.obolibrary.org/obo/UBERON_0000091 germinal disk|bilaminary embryonic disc|embryonic shield|germinal disc|bilaminar disk|embryonic disc|bilaminary germ disc MONDO:0015448 mitochondrial complex III deficiency biolink:Disease mondo ICD10:G71.3|DOID:0111139|Orphanet:1460 Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). ORPHA:1460|DOID:0111139 http://purl.obolibrary.org/obo/MONDO_0015448 isolated complex III deficiency|isolated mitochondrial respiratory chain complex III deficiency|isolated CoQ-cytochrome C reductase deficiency|isolated ubiquinone-cytochrome C reductase deficiency|isolated coenzyme Q-cytochrome C reductase deficiency ordo_disease UBERON:0000092 post-embryonic stage biolink:AnatomicalEntity mondo stage succeeding embryo, including mature structure http://purl.obolibrary.org/obo/UBERON_0000092 postembryonic stage|postembryonic|post-hatching stage MONDO:0015443 chromosome 8-derived supernumerary ring/marker biolink:Disease mondo GTR:AN0101480|NCIT:C121988|Orphanet:1450|GTR:AN0101479|SCTID:715983001|GARD:0001347|MESH:C537824|ICD10:Q93.2|UMLS:CN036129 Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. SNOMEDCT:715983001|ORPHA:1450|NCIT:C121988|MESH:C537824|UMLS:CN036129|UMLS:C2931633 http://purl.obolibrary.org/obo/MONDO_0015443 R8|supernumerary ring/marker 8|rose cluster 8|ring chromosome 8|Ring chromosome 8 syndrome|r(8) syndrome|chromosome 8 ring|Ring 8 ordo_malformation_syndrome GO:0097722 sperm motility biolink:OntologyClass mondo Any process involved in the controlled movement of a sperm cell. http://purl.obolibrary.org/obo/GO_0097722 sperm movement MONDO:0015442 obsolete hereditary breast and ovarian cancer syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015442 MONDO:0015441 ring chromosome 7 biolink:Disease mondo GARD:0001345|ICD10:Q93.2|NCIT:C121986|MESH:C537813|SCTID:765489006|Orphanet:1449 Gene expression cluster 7 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia. ORPHA:1449|UMLS:C0795818|NCIT:C121986|MESH:C537813|UMLS:C2931622|SNOMEDCT:765489006 http://purl.obolibrary.org/obo/MONDO_0015441 rose cluster 7|Ring 7|R7|chromosome 7 ring|Ring chromosome 7 syndrome|Ring chromosome type 7 gard_rare|ordo_malformation_syndrome MONDO:0015440 ring chromosome 6 biolink:Disease mondo GARD:0006095|MESH:C537763|ICD10:Q93.2|NCIT:C121985|Orphanet:1448|SCTID:765488003 Gene expression cluster 6 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia. UMLS:C0795814|ORPHA:1448|MESH:C537763|NCIT:C121985|UMLS:C2931604|SNOMEDCT:765488003 http://purl.obolibrary.org/obo/MONDO_0015440 rose cluster 6|R6|Ring 6|chromosome 6 ring|Ring chromosome 6 syndrome|Ring chromosome type 6 gard_rare|ordo_malformation_syndrome MONDO:0003447 clear cell hidradenoma biolink:Disease mondo DOID:5443|UMLS:C1370701|NCIT:C7567 An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells. DOID:5443|NCIT:C7567|UMLS:C1370701 http://purl.obolibrary.org/obo/MONDO_0003447 clear cell hidradenoma|clear cell hidradenoma (morphologic abnormality)|clear cell myoepithelioma MONDO:0003448 benign spiradenoma biolink:Disease mondo ICDO:8403/0|ONCOTREE:SPIR|NCIT:C4170|GARD:0008649|DOID:5444|SCTID:403938001|UMLS:C0334347 A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported. UMLS:C0334347|SNOMEDCT:403938001|DOID:5444|NCIT:C4170 http://purl.obolibrary.org/obo/MONDO_0003448 spiroma/spiradenoma|spiradenoma|eccrine spiradenoma of skin|benign eccrine spiradenoma|eccrine spiradenoma|eccrine spiradenoma (morphologic abnormality) MONDO:0003449 obsolete syringocystadenoma papilliferum biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003449 MONDO:0003443 papillary urothelial neoplasm biolink:Disease mondo NCIT:C27883|DOID:5433|UMLS:C1335329 A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003 DOID:5433|NCIT:C27883|UMLS:C1335329 http://purl.obolibrary.org/obo/MONDO_0003443 papillary transitional cell neoplasm of the urinary tract|inverted papilloma of urinary tract|urothelium papillary epithelial neoplasm|papillary urothelial neoplasm|urinary tract papillary transitional cell neoplasm|urinary tract papillary transitional cell benign neoplasm|urinary tract inverted papilloma MONDO:0003444 intrahepatic bile duct adenoma biolink:Disease mondo DOID:5437|UMLS:C1331535|NCIT:C7126 A rare adenoma that arises from the intrahepatic biliary tree. DOID:5437|UMLS:C1331535|NCIT:C7126 http://purl.obolibrary.org/obo/MONDO_0003444 intrahepatic bile duct adenoma|adenoma of the intrahepatic bile duct|adenoma of intrahepatic bile duct|adenoma, HEPATOCHOLANGIOCELLULAR, benign MONDO:0003445 extrahepatic bile duct adenoma biolink:Disease mondo DOID:5438|UMLS:C1331534|NCIT:C5857 An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary. DOID:5438|UMLS:C1331534|NCIT:C5857 http://purl.obolibrary.org/obo/MONDO_0003445 adenoma of the extrahepatic bile duct|extrahepatic bile duct adenoma|adenoma of extrahepatic bile duct MONDO:0027416 obsolete retinal cone dystrophy 2 biolink:Disease mondo GARD:0010117 http://purl.obolibrary.org/obo/MONDO_0027416 Progressive cone degeneration|Cone dystrophy progressive|RCD2 gard_rare MONDO:0003446 papillary hidradenoma biolink:Disease mondo DOID:5439|UMLS:C0334348|SCTID:307597000|NCIT:C4171|ICDO:8405/0 A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative. UMLS:C0334348|SNOMEDCT:307597000|DOID:5439|NCIT:C4171 http://purl.obolibrary.org/obo/MONDO_0003446 hidradenoma papilliferum MONDO:0003440 obsolete bladder flat intraepithelial lesion biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003440 MONDO:0003441 dystonic disorder biolink:Disease mondo ICD10:G24.9|COHD:375800|SCTID:15802004|ICD10:G24|NCIT:C34563|OMIMPS:128100|DOID:543|MESH:D020821|HP:0001332|ICD9:333.90 A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. MESH:D020821|DOID:543|NCIT:C34563|SNOMEDCT:15802004 http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder|dystonia disorder|dystonia disorders|dystonic disease|dystonia MONDO:0003442 bladder papillary urothelial neoplasm biolink:Disease mondo DOID:5432|NCIT:C39857|UMLS:C1511197 A papillary epithelial neoplasm that involves the urinary bladder urothelium. DOID:5432|UMLS:C1511197|NCIT:C39857 http://purl.obolibrary.org/obo/MONDO_0003442 urinary bladder papillary transitional cell neoplasm|urinary bladder papillary urothelial neoplasm|bladder papillary transitional cell neoplasm|bladder papillary urothelial neoplasm|urinary bladder urothelium papillary epithelial neoplasm ENVO:02500027 anthropogenic environmental process biolink:OntologyClass mondo An environmental process which is driven by the action of humans. http://purl.obolibrary.org/obo/ENVO_02500027 ENVO:02500026 anthropogenic modulatory intervention process biolink:OntologyClass mondo A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. http://purl.obolibrary.org/obo/ENVO_02500026 GO:0046146 tetrahydrobiopterin metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine. http://purl.obolibrary.org/obo/GO_0046146 5,6,7,8-tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism UBERON:0012069 epithelium-associated lymphoid tissue biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012069 MONDO:0015436 ring chromosome 20 biolink:Disease mondo SCTID:23686004|ICD10:Q93.2|Orphanet:1444|GARD:0001334|ICD9:758.89|MESH:C580424 Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. UMLS:C2930886|SNOMEDCT:23686004|ORPHA:1444|UMLS:C0265482|MESH:C535369|MESH:C580424 http://purl.obolibrary.org/obo/MONDO_0015436 Ring 20|Ring chromosome 20 syndrome|chromosome 20 ring|Ring chromosome type 20|R20 gard_rare|ordo_malformation_syndrome MONDO:0015435 ring chromosome 19 biolink:Disease mondo SCTID:765484001|ICD10:Q93.2|UMLS:CN036553|Orphanet:1443|GARD:0001333|MESH:C538310 Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. MESH:C538310|ORPHA:1443|SNOMEDCT:765484001|UMLS:CN036553|UMLS:C2931812 http://purl.obolibrary.org/obo/MONDO_0015435 R19|Ring 19|Ring chromosome 19 syndrome|chromosome 19 ring|Ring chromosome type 19 gard_rare|ordo_malformation_syndrome UBERON:0000083 mesonephric tubule biolink:AnatomicalEntity mondo A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. http://purl.obolibrary.org/obo/UBERON_0000083 tubuli mesonephrici|renal tubules UBERON:0000084 ureteric bud biolink:AnatomicalEntity mondo An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP] http://purl.obolibrary.org/obo/UBERON_0000084 ureteric ampulla|gemma ureterica|diverticulum metanephricum|diverticulum|ureteric diverticulum|metanephric bud|metanephric diverticulum MONDO:0015434 ring chromosome 18 biolink:Disease mondo EFO:0001226|ICD10:Q93.2|MESH:C538304|Orphanet:1442|SCTID:88154004|UMLS:C0265475|GARD:0006077 MESH:C538304|ORPHA:1442|UMLS:C0265475|SNOMEDCT:88154004|UMLS:C2931809 http://purl.obolibrary.org/obo/MONDO_0015434 chromosome 18 ring|Ring chromosome 18 syndrome|R18|Ring 18|Ring chromosome type 18 ordo_malformation_syndrome|gard_rare MONDO:0015433 ring chromosome 17 biolink:Disease mondo ICD10:Q93.2|GARD:0004724|MESH:C538046|Orphanet:1441 MESH:C538046|ORPHA:1441|UMLS:C2931714 http://purl.obolibrary.org/obo/MONDO_0015433 R17|Ring chromosome 17 syndrome|Ring 17|chromosome 17 ring|Ring chromosome type 17 gard_rare|ordo_malformation_syndrome UBERON:0000085 morula biolink:AnatomicalEntity mondo A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. http://purl.obolibrary.org/obo/UBERON_0000085 morula (2-16 cells) ENVO:02500028 planetary erosion biolink:OntologyClass mondo An action of exogenic processes (such as water flow or wind) which remove environmental material from one part of a planet's crust, transporting it to another location where it is deposited. http://purl.obolibrary.org/obo/ENVO_02500028 MONDO:0015439 ring chromosome 4 biolink:Disease mondo NCIT:C121983|MESH:C537636|GARD:0001339|Orphanet:1447|ICD10:Q93.2|SCTID:81678004 Gene expression cluster 4 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia. SNOMEDCT:81678004|MESH:C537636|ORPHA:1447|UMLS:C0265407|NCIT:C121983|UMLS:C2931556 http://purl.obolibrary.org/obo/MONDO_0015439 Ring 4|chromosome 4 ring|syndrome r(4)|Ring chromosome type 4|rose cluster 4|R4|r(4) syndrome|Ring chromosome 4 syndrome ordo_malformation_syndrome|gard_rare UBERON:0000080 mesonephros biolink:AnatomicalEntity mondo The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. http://purl.obolibrary.org/obo/UBERON_0000080 opistonephros|mesonephroi|opisto nephros|corpus Wolffi|amphibian adult kidney|mesonephric kidney|opisthonephros|middle kidney|Wolffian body MONDO:0015438 ring chromosome 22 biolink:Disease mondo SCTID:13555004|UMLS:CN036599|Orphanet:1446|GARD:0001336|MESH:C536795|ICD10:Q93.2 Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family. ORPHA:1446|UMLS:C0265492|MESH:C536795|SNOMEDCT:13555004|UMLS:CN036599|UMLS:C2931325 http://purl.obolibrary.org/obo/MONDO_0015438 Ring 22|chromosome 22 ring|R22|Ring chromosome 22 syndrome|Ring chromosome type 22|r(22) syndrome ordo_malformation_syndrome|gard_rare MONDO:0015437 ring chromosome 21 biolink:Disease mondo MESH:C537109|SCTID:31325007|Orphanet:1445|GARD:0006083|ICD10:Q93.2|UMLS:CN037252 MESH:C537109|ORPHA:1445|UMLS:C0265487|SNOMEDCT:31325007|UMLS:CN037252|UMLS:C2931422 http://purl.obolibrary.org/obo/MONDO_0015437 Ring 21|chromosome 21 en anneau|Ring chromosome 21 syndrome|chromosome 21 ring|R21|Ring chromosome type 21 gard_rare|ordo_malformation_syndrome UBERON:0000081 metanephros biolink:AnatomicalEntity mondo In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO] http://purl.obolibrary.org/obo/UBERON_0000081 metanephron|definite kidney|definitive kidney|hind kidney|metanephric kidney MONDO:0015432 ring chromosome 12 biolink:Disease mondo GARD:0001325|ICD10:Q93.2|UMLS:C0795843|MESH:C538298|Orphanet:1439 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. MESH:C538298|ORPHA:1439|UMLS:C0795843 http://purl.obolibrary.org/obo/MONDO_0015432 R12|chromosome 12 ring|Ring chromosome type 12|Ring chromosome 12 syndrome|Ring 12 ordo_malformation_syndrome|gard_rare GO:0071103 DNA conformation change biolink:OntologyClass mondo A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. http://purl.obolibrary.org/obo/GO_0071103 DNA conformation modification UBERON:0000086 zona pellucida biolink:AnatomicalEntity mondo A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. http://purl.obolibrary.org/obo/UBERON_0000086 vitelline envelope|zona radiata|zona striata|pellucid zone|striated membrane|zona pellucida - vitelline membrane|oolemma|vitelline membrane MONDO:0015431 ring chromosome 10 biolink:Disease mondo UMLS:CN037257|UMLS:C0265438|GARD:0001322|SCTID:86997002|ICD10:Q93.2|MESH:C538086|Orphanet:1438 Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases. ORPHA:1438|UMLS:C0265438|SNOMEDCT:86997002|UMLS:CN037257|UMLS:C2931727|MESH:C538086 http://purl.obolibrary.org/obo/MONDO_0015431 chromosome 10 ring|Ring chromosome 10 syndrome|r10|Ring 10|Ring chromosome type 10 gard_rare|ordo_malformation_syndrome UBERON:0000087 inner cell mass biolink:AnatomicalEntity mondo A mass of cells that develop into the body of the embryo and some extraembryonic tissues http://purl.obolibrary.org/obo/UBERON_0000087 ICM|embryoblastus; massa cellularis interna; pluriblastus senior|early embryoblast|embryoblast|pluriblast MONDO:0015430 ring chromosome 1 biolink:Disease mondo Orphanet:1437|GTR:AN0102272|UMLS:CN036412|GARD:0001320|NCIT:C36474|MESH:C535361|ICD10:Q93.2|SCTID:47017007 ORPHA:1437|UMLS:C0265395|SNOMEDCT:47017007|UMLS:C1519099|MESH:C535361|UMLS:CN036412|NCIT:C36474 http://purl.obolibrary.org/obo/MONDO_0015430 chromosome 1 ring|chromosome 1, ring|Ring chromosome type 1|r(1) syndrome|Ring chromosome 1 syndrome|Ring 1|R1 ordo_malformation_syndrome UBERON:0000088 trophoblast biolink:AnatomicalEntity mondo the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta http://purl.obolibrary.org/obo/UBERON_0000088 trophoderm|trophoblastus|massa cellularis externa|trophoblast layer NCBITaxon:34486 Ancylistaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34486 NCBITaxon:34487 Conidiobolus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34487 MONDO:0003458 uterine corpus adenofibroma biolink:Disease mondo UMLS:C1336901|DOID:5475|NCIT:C6337 A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core. DOID:5475|NCIT:C6337|UMLS:C1336901 http://purl.obolibrary.org/obo/MONDO_0003458 adenofibroma of uterine corpus|adenofibroma of body of uterus|adenofibroma of the body of uterus|adenofibroma of the corpus uteri|adenofibroma of the uterine corpus|corpus uteri adenofibroma|adenofibroma of corpus uteri|adenofibroma of uterine body|body of uterus adenofibroma|adenofibroma of the uterine body|uterine body adenofibroma MONDO:0003459 cervical adenofibroma biolink:Disease mondo DOID:5476|NCIT:C40230|UMLS:C1516402 A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements. UMLS:C1516402|NCIT:C40230|DOID:5476 http://purl.obolibrary.org/obo/MONDO_0003459 MONDO:0027407 Kleefstra syndrome 1 biolink:Disease mondo OMIM:610253|DOID:0070075 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3. DOID:0070075|http://identifiers.org/omim/610253 http://purl.obolibrary.org/obo/MONDO_0027407 chromosome 9q34.3 deletion syndrome|9q-syndrome|Kleefstra syndrome|Kleefstra syndrome 1; KLEFS1|obsolete Kleefstra syndrome|KLEFS1|9q subtelomeric deletion syndrome MONDO:0003454 conjunctival cancer biolink:Disease mondo ICD9:190.3|SCTID:363463000|DOID:5467|COHD:373151|NCIT:C3564|ICD10:C69.0 A malignant neoplasm involving the conjunctiva. DOID:5467|SNOMEDCT:363463000|NCIT:C3564 http://purl.obolibrary.org/obo/MONDO_0003454 malignant tumor of conjunctiva|cancer of conjunctiva|conjunctiva cancer|malignant conjunctiva neoplasm|malignant conjunctival tumor|malignant neoplasm of conjunctiva (primary)|conjunctival tumor|malignant neoplasm of the conjunctiva|malignant conjunctiva tumor|malignant neoplasm of conjunctiva|malignant conjunctival neoplasm|malignant tumor of the conjunctiva|neoplasm of conjunctiva MONDO:0003455 bile duct papillary neoplasm biolink:Disease mondo ICDO:8503/0|DOID:5468|NCIT:C6881|UMLS:C1879344 A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. DOID:5468|UMLS:C1879344|NCIT:C6881 http://purl.obolibrary.org/obo/MONDO_0003455 IPN|bile duct papillomatosis|bile duct papillary neoplasm|biliary papillomatosis|bile duct papillary epithelial neoplasm|intraductal papillary neoplasm MONDO:0003456 obsolete bile duct mucinous cystic neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003456 MONDO:0003457 obsolete ovarian serous adenofibroma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003457 MONDO:0003450 eccrine papillary adenoma biolink:Disease mondo NCIT:C4173|DOID:5446|GARD:0010463|SCTID:253021007|UMLS:C0334350|ICDO:8408/0 A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections. DOID:5446|NCIT:C4173|UMLS:C0334350|SNOMEDCT:253021007 http://purl.obolibrary.org/obo/MONDO_0003450 eccrine papillary adenoma of skin|Papillary eccrine adenoma|Papillary eccrine adenoma gard_rare MONDO:0003451 obsolete laryngeal neuroendocrine tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003451 MONDO:0003452 cochlear disease biolink:Disease mondo DOID:5463|UMLS:C0009197|MESH:D015834 Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph). MESH:D015834|UMLS:C0009197|DOID:5463 http://purl.obolibrary.org/obo/MONDO_0003452 disease of cochlea|disorder of cochlea|disorder of cochlea|cochlea disease|disease or disorder of cochlea|cochlea disease or disorder MONDO:0003453 conjunctival intraepithelial neoplasm biolink:Disease mondo SCTID:418134006|NCIT:C6120|ICD9:239.89|DOID:5465|UMLS:C1333148 DOID:5465|NCIT:C6120|SNOMEDCT:418134006|UMLS:C1333148 http://purl.obolibrary.org/obo/MONDO_0003453 intraepithelial neoplasia of the conjunctiva|conjunctival intraepithelial neoplasia|intraepithelial neoplasia of conjunctiva|conjunctiva intraepithelial neoplasia MONDO:0015419 midline cervical cleft biolink:Disease mondo ICD10:Q18.8|Orphanet:141288|SCTID:403557001|ICD9:744.89 Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia. UMLS:C1274890|ORPHA:141288|SNOMEDCT:403557001 http://purl.obolibrary.org/obo/MONDO_0015419 ordo_morphological_anomaly UBERON:0012054 myocoele biolink:AnatomicalEntity mondo The cavity within a myotome http://purl.obolibrary.org/obo/UBERON_0012054 MONDO:0015425 lethal recessive chondrodysplasia biolink:Disease mondo GARD:0001294|UMLS:C4304745|UMLS:CN199522|Orphanet:1423|SCTID:719404009|ICD10:Q78.8 Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. SNOMEDCT:719404009|ORPHA:1423|UMLS:C4304745|UMLS:CN199522 http://purl.obolibrary.org/obo/MONDO_0015425 chondrodysplasia lethal recessive|Maroteaux-Stanescu-Cousin syndrome gard_rare|ordo_malformation_syndrome UBERON:0000071 death stage biolink:AnatomicalEntity mondo End of the life of an organism. http://purl.obolibrary.org/obo/UBERON_0000071 death MONDO:0015424 lethal chondrodysplasia, Moerman type biolink:Disease mondo Orphanet:1420|GARD:0003225|ICD10:Q77.8|UMLS:CN199519 ORPHA:1420|UMLS:CN199519 http://purl.obolibrary.org/obo/MONDO_0015424 Moerman-Vandenberghe-Fryns syndrome|lethal chondrodysplasia Moerman type gard_rare|ordo_malformation_syndrome UBERON:0000072 proximo-distal subdivision of respiratory tract biolink:AnatomicalEntity mondo An section of a respiratory tract. http://purl.obolibrary.org/obo/UBERON_0000072 respiratory tract|subdivision of respiratory tract MONDO:0015423 obsolete anaplastic thyroid carcinoma biolink:Disease mondo Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans. http://purl.obolibrary.org/obo/MONDO_0015423 UBERON:0000073 regional part of nervous system biolink:AnatomicalEntity mondo Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. http://purl.obolibrary.org/obo/UBERON_0000073 part of nervous system UBERON:0000074 renal glomerulus biolink:AnatomicalEntity mondo A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. http://purl.obolibrary.org/obo/UBERON_0000074 glomerular capillary tuft|Malpighian glomerulus|glomerulus|Malphigian glomerulus|renal glomeruli|Malpighian tuft|renal corpuscle|glomerulus renis|glomerular tuft MONDO:0015422 orofaciodigital syndrome type 13 biolink:Disease mondo ICD10:Q87.0|Orphanet:141330|UMLS:C2932680|MESH:C548035|SCTID:763835004|GARD:0010694 Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated. ORPHA:141330|MESH:C548035|SNOMEDCT:763835004|UMLS:C2932680 http://purl.obolibrary.org/obo/MONDO_0015422 OFDS 13|oral-facial-digital syndrome 13|orofaciodigital syndrome 13|oral facial digital syndrome 13|oral-facial-digital syndrome XIII|orofaciodigital syndrome XIII|oral-facial-digital syndrome type 13|OFD13|oral facial digital syndrome type 13|Degner syndrome|OFD syndrome 13 ordo_malformation_syndrome MONDO:0015429 choroideremia-hypopituitarism syndrome biolink:Disease mondo UMLS:CN226680|Orphanet:1434 UMLS:CN226680|ORPHA:1434 http://purl.obolibrary.org/obo/MONDO_0015429 CHM-hypopituitarism syndrome ordo_disease GO:0097708 intracellular vesicle biolink:OntologyClass mondo Any vesicle that is part of the intracellular region. http://purl.obolibrary.org/obo/GO_0097708 MONDO:0015428 choroidal atrophy-alopecia syndrome biolink:Disease mondo SCTID:720850008|GARD:0003704|MESH:C535810|Orphanet:1433|UMLS:C2931026 Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. SNOMEDCT:720850008|ORPHA:1433|UMLS:C2931026|MESH:C535810 http://purl.obolibrary.org/obo/MONDO_0015428 choroidal atrophy alopecia|Moloney syndrome|fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails|regional choroidal atrophy and alopecia ordo_malformation_syndrome MONDO:0015427 paroxysmal dyskinesia biolink:Disease mondo ICD10:G24.8|SCTID:49949003|Orphanet:1431|ICD9:333.5 Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome). MESH:D002819|ORPHA:1431|UMLS:C0752210|SNOMEDCT:49949003 http://purl.obolibrary.org/obo/MONDO_0015427 paroxysmal dystonic choreoathetosis|paroxysmal choreoathetosis ordo_group_of_disorders MONDO:0015426 Desbuquois dysplasia biolink:Disease mondo Orphanet:1425|UMLS:CN239270|OMIMPS:251450|ICD9:756.9|NCIT:C124056|GARD:0001818|UMLS:C0432242|DOID:0060462|ICD10:Q78.8|SCTID:254099008 Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. UMLS:CN239270|ORPHA:1425|SNOMEDCT:254099008|UMLS:C0432242|MESH:C535943|DOID:0060462|NCIT:C124056 http://purl.obolibrary.org/obo/MONDO_0015426 DBQD|desbuquois syndrome|micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|Desbuquois dysplasia|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification ordo_disease UBERON:0000079 male reproductive system biolink:AnatomicalEntity mondo The organs associated with producing offspring in the gender that produces spermatozoa. http://purl.obolibrary.org/obo/UBERON_0000079 male organism genitalia|male genital tract|male genitals|male genital organ|male reproductive tract|genitalia of male organism|male genital system|male genitalia|reproductive system of male organism|male organism reproductive system|systema genitale masculinum MONDO:0015421 orofaciodigital syndrome type 12 biolink:Disease mondo MESH:C548034|ICD10:Q87.0|GARD:0010693|SCTID:763834000|UMLS:C2932679|Orphanet:141327 Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated. ORPHA:141327|MESH:C548034|SNOMEDCT:763834000|UMLS:C2932679 http://purl.obolibrary.org/obo/MONDO_0015421 OFDS 12|OFD12|oral facial digital syndrome 12|oral-facial-digital syndrome 12|orofaciodigital syndrome 12|orofaciodigital syndrome XII|oral facial digital syndrome type 12|Moran-Barroso syndrome|oral-facial-digital syndrome type 12 ordo_malformation_syndrome UBERON:0000075 subdivision of skeletal system biolink:AnatomicalEntity mondo Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. http://purl.obolibrary.org/obo/UBERON_0000075 skeletal system part|skeletal system subdivision MONDO:0015420 cleft lip and alveolus biolink:Disease mondo ICD9:525.8|ICD10:Q36.9|SCTID:373643003|Orphanet:141291|ICD10:Q36.1|ICD10:Q36.0 Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees. ORPHA:141291|UMLS:C1298692|SNOMEDCT:373643003 http://purl.obolibrary.org/obo/MONDO_0015420 ordo_morphological_anomaly UBERON:0000076 external ectoderm biolink:AnatomicalEntity mondo The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. http://purl.obolibrary.org/obo/UBERON_0000076 surface (external) ectoderm|surface ectoderm UBERON:0000077 mixed endoderm/mesoderm-derived structure biolink:AnatomicalEntity mondo An anatomical structure that develops from the endoderm and the mesoderm. http://purl.obolibrary.org/obo/UBERON_0000077 UBERON:0000078 mixed ectoderm/mesoderm/endoderm-derived structure biolink:AnatomicalEntity mondo An anatomical structure that develops from the ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/UBERON_0000078 GO:0000963 mitochondrial RNA processing biolink:OntologyClass mondo The conversion of a primary RNA molecule transcribed from a mitochondrial genome into one or more mature RNA molecules; occurs in the mitochondrion. http://purl.obolibrary.org/obo/GO_0000963 CHEBI:23390 cobalt-corrinoid hexaamide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23390 UBERON:0000101 lobe of lung biolink:AnatomicalEntity mondo A lung lobe is one of the rounded projections that compose the lung[GO]. http://purl.obolibrary.org/obo/UBERON_0000101 pulminory lobe|lung lobe|pulmonary lobe UBERON:0000102 lung vasculature biolink:AnatomicalEntity mondo The lung vasculature is composed of the tubule structures that carry blood or lymph in the lungs[GO]. http://purl.obolibrary.org/obo/UBERON_0000102 lung vascular network|vasculature of lung|vascular network of lung|pulmonary vasculature UBERON:0000104 life cycle biolink:AnatomicalEntity mondo An entire span of an organism's life, commencing with the zygote stage and ending in the death of the organism. http://purl.obolibrary.org/obo/UBERON_0000104 entire life cycle|life|lifespan|entire lifespan UBERON:0002749 regional part of cerebellar cortex biolink:AnatomicalEntity mondo A regional part of brain that is part of a cerebellar cortex [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002749 cerebellar cortical segment|segment of cerebellar cortex NCBITaxon:1678 Bifidobacterium organism taxon mondo PMID:11594590|PMID:20061504|PMID:17158978|GC_ID:11|PMID:1742200|PMID:8573484 http://purl.obolibrary.org/obo/NCBITaxon_1678 Tissieria|Bifidibacterium ECTO:0000637 EC 1.9.3.1 (cytochrome c oxidase) inhibitor exposure biolink:OntologyClass mondo An exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor. http://purl.obolibrary.org/obo/ECTO_0000637 exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor NCBITaxon:71240 eudicotyledons organism taxon mondo PMID:26724406|GC_ID:1|PMID:25249442 http://purl.obolibrary.org/obo/NCBITaxon_71240 eudicots|Dicotyledoneae|dicots|dicotyledons GO:0009306 protein secretion biolink:OntologyClass mondo The controlled release of proteins from a cell. http://purl.obolibrary.org/obo/GO_0009306 protein secretion resulting in cell fate commitment|protein secretion during cell fate commitment|glycoprotein secretion GO:0009308 amine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. http://purl.obolibrary.org/obo/GO_0009308 amine metabolism GO:0009309 amine biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. http://purl.obolibrary.org/obo/GO_0009309 amine anabolism|amine synthesis|amine biosynthesis|amine formation GO:0000976 transcription regulatory region sequence-specific DNA binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. http://purl.obolibrary.org/obo/GO_0000976 transcription regulatory region DNA binding|regulatory region DNA binding GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding biolink:OntologyClass mondo Interacting selectively and non-covalently with a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. http://purl.obolibrary.org/obo/GO_0000977 RNA polymerase II regulatory region DNA binding CHEBI:50996 tertiary amino compound biolink:ChemicalSubstance mondo A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups. http://purl.obolibrary.org/obo/CHEBI_50996 tertiary amino compounds CHEBI:50995 secondary amino compound biolink:ChemicalSubstance mondo A compound formally derived from ammonia by replacing two hydrogen atoms by organyl groups. http://purl.obolibrary.org/obo/CHEBI_50995 secondary amino compounds CHEBI:50994 primary amino compound biolink:ChemicalSubstance mondo A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group. http://purl.obolibrary.org/obo/CHEBI_50994 primary amino compounds PATO:0000389 acute biolink:OntologyClass mondo A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course. http://purl.obolibrary.org/obo/PATO_0000389 UBERON:0014720 interlobar duct biolink:AnatomicalEntity mondo A duct that is located between lobes, within conspicuous, thick connective tissue septa that separate lobes. All interlobar ducts are excretory. http://purl.obolibrary.org/obo/UBERON_0014720 intralobular ductule NCBITaxon:1647 Erysipelothrix organism taxon mondo PMID:7537073|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1647 NCBITaxon:1648 Erysipelothrix rhusiopathiae organism taxon mondo PMID:8427802|PMID:1503975|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_1648 Erysipelothrix erysipeloides|Bacterium rhusiopathiae|Erysipelothrix insidiosa|Bacillus insidiosus|Erysipelothrix porci|Bacillus rhusiopathiae suis|Erysipelothrix murisepticus NCBITaxon:71275 rosids organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_71275 Rosidae UBERON:0014717 mucous acinus biolink:AnatomicalEntity mondo The secretory unit of a mucous gland. The acinar portion is composed of mucous secreting cells. http://purl.obolibrary.org/obo/UBERON_0014717 acinus of mucuous gland|mucus acinus NCBITaxon:71274 asterids organism taxon mondo PMID:12144762|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_71274 Asteridae UBERON:0014719 intralobular duct biolink:AnatomicalEntity mondo A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular http://purl.obolibrary.org/obo/UBERON_0014719 intralobular ductule HGNC:9403 PRKCH biolink:OntologyClass mondo http://identifiers.org/hgnc/9403 CHEBI:35358 sulfonamide biolink:ChemicalSubstance mondo An amide of a sulfonic acid RS(=O)2NR'2. http://purl.obolibrary.org/obo/CHEBI_35358 sulfonamides|sulfonamides PATO:0000387 soft biolink:OntologyClass mondo A hardness quality of giving little resistance to pressure. http://purl.obolibrary.org/obo/PATO_0000387 UBERON:0014716 interlobular duct biolink:AnatomicalEntity mondo A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. http://purl.obolibrary.org/obo/UBERON_0014716 PATO:0000386 hard biolink:OntologyClass mondo A hardness quality of being rigid and resistant to pressure. http://purl.obolibrary.org/obo/PATO_0000386 firm|tough|impenetrable CHEBI:35350 hydroxy steroid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35350 Hydroxysteroid|hydroxysteroids|hydroxy steroids HGNC:9402 PRKCG biolink:OntologyClass mondo http://identifiers.org/hgnc/9402 CHEBI:35352 organonitrogen compound biolink:ChemicalSubstance mondo Any heteroorganic entity containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compounds|organonitrogens NCBITaxon:1653 Corynebacteriaceae organism taxon mondo PMID:27864136|PMID:19244447|GC_ID:11|PMID:30186281 http://purl.obolibrary.org/obo/NCBITaxon_1653 Coryneform bacteria NCBITaxon:1654 Actinomyces organism taxon mondo GC_ID:11|PMID:30186281 http://purl.obolibrary.org/obo/NCBITaxon_1654 Actinocladothrix|Discomyces UBERON:0002726 cervical spinal cord biolink:AnatomicalEntity mondo A spinal cord segment that adjacent_to a cervical region. http://purl.obolibrary.org/obo/UBERON_0002726 cervical segment of spinal cord|segmenta cervicalia medullae spinalis [1-8|cervical segments of spinal cord [1-8]|pars cervicalis medullae spinalis|cervical spinal cord NCBITaxon:1659 Actinomyces israelii organism taxon mondo GC_ID:11|PMID:30186281 http://purl.obolibrary.org/obo/NCBITaxon_1659 Actinobacterium israeli|Discomyces israeli|Corynebacterium israeli|Nocardia israeli|Streptothrix israeli|Oospora israeli|Proactinomyces israeli|Brevistreptothrix israeli|Cohnistreptothrix israeli CHEBI:35366 fatty acid biolink:ChemicalSubstance mondo Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. http://purl.obolibrary.org/obo/CHEBI_35366 acide gras|Fatty acid|fatty acids|acido graso|acides gras|Fettsaeure|acidos grasos|Fettsaeuren|fatty acids UBERON:0014706 primitive renal collecting duct system biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014706 primitive collecting duct|metanephros primitive collecting ducts HGNC:9414 PRKG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9414 NCBITaxon:227859 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_227859 UBERON:0014702 frontonasal process epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a frontonasal prominence. http://purl.obolibrary.org/obo/UBERON_0014702 UBERON:0014703 anal membrane ectodermal component biolink:AnatomicalEntity mondo A unilaminar epithelium that develops_from a ectoderm and is part of a anal region. http://purl.obolibrary.org/obo/UBERON_0014703 UBERON:0014704 pleuroperitoneal canal lumen biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a pleuroperitoneal canal. http://purl.obolibrary.org/obo/UBERON_0014704 pleuro-peritoneal canal cavity UBERON:0014705 median lingual swelling epithelium biolink:AnatomicalEntity mondo A epithelium that is part of a median lingual swelling. http://purl.obolibrary.org/obo/UBERON_0014705 tuberculum impar epitheilium UBERON:0002731 vestibulocochlear nerve root biolink:AnatomicalEntity mondo Either of the two roots that come of the vestibulocochlear nerve http://purl.obolibrary.org/obo/UBERON_0002731 vestibulocochlear nerve roots|vestibulocochlear nerve fibers|statoacoustic nerve fibers|central part of vestibulocochlear nerve|fibrae nervi statoacustici|root of vestibulocochlear nerve|vestibulocochlear nerve tract GO:0000959 mitochondrial RNA metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving RNA transcribed from the mitochondrial genome and occurring in the mitochondrion. http://purl.obolibrary.org/obo/GO_0000959 HGNC:9413 PRKDC biolink:OntologyClass mondo http://identifiers.org/hgnc/9413 HGNC:9411 PRKCSH biolink:OntologyClass mondo http://identifiers.org/hgnc/9411 MONDO:0005923 Pneumocystis infectious disease biolink:Disease mondo EFO:0007447|MESH:D016720|UMLS:C0851886 Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. MESH:D016720|UMLS:C0851886 http://purl.obolibrary.org/obo/MONDO_0005923 Pneumocystis infection|infections, Pneumocystis MONDO:0005922 pleural tuberculosis biolink:Disease mondo EFO:0007446|ICD9:010.16|SCTID:186172004|ICD10:A15.6|ICD9:012.00|NCIT:C26898|ICD9:012.0|ICD9:010.12|ICD9:010.1|MESH:D014396|ICD9:010.10|DOID:106 Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis. NCIT:C26898|MESH:D014396|DOID:106|SNOMEDCT:186172004 http://purl.obolibrary.org/obo/MONDO_0005922 pearly disease|tuberculosis of pleura|tuberculous pleuritis|tuberculous pleurisy|pleura tuberculosis|tuberculous pleurisy in primary progressive tuberculosis NCBITaxon:129369 Pulicoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_129369 MONDO:0005925 pneumonic pasteurellosis biolink:Disease mondo MESH:D012766|UMLS:C0036969|EFO:0007449 Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal. MESH:D012766|UMLS:C0036969 http://purl.obolibrary.org/obo/MONDO_0005925 UBERON:0014780 palatine aponeurosis biolink:AnatomicalEntity mondo Attached to the posterior border of the hard palate is a thin, firm fibrous lamella called the palatine aponeurosis, which supports the muscles and gives strength to the soft palate. It is thicker above than below, where it becomes very thin and difficult to define. Laterally it is continuous with the pharyngeal aponeurosis. It serves as the insertion for the Tensor veli palatini and Levator veli palatini, and the origin for the Musculus uvulae, Palatopharyngeus, and Palatoglossus. It provides support for the soft palate. http://purl.obolibrary.org/obo/UBERON_0014780 aponeurosis of tensor veli palatini|aponeurosis palatina CHEBI:23354 coenzyme biolink:ChemicalSubstance mondo A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons. http://purl.obolibrary.org/obo/CHEBI_23354 coenzymes|coenzyme MONDO:0005924 obsolete pneumocystosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005924 CHEBI:23359 colchicine biolink:ChemicalSubstance mondo An alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum. http://purl.obolibrary.org/obo/CHEBI_23359 N-(1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl)acetamide MONDO:0005921 Plasmodium vivax malaria biolink:Disease mondo NCIT:C34800|EFO:0007445|UMLS:C0024537|ICD10:B51|COHD:433960|SCTID:27052006|ICD10:B51.9|ICD9:084.1|DOID:12978|MESH:D016780 Malaria resulting from infection by Plasmodium vivax. SNOMEDCT:27052006|DOID:12978|MESH:D016780|NCIT:C34800|UMLS:C0024537 http://purl.obolibrary.org/obo/MONDO_0005921 vivax malaria|malaria by Plasmodium vivax CHEBI:23357 cofactor biolink:ChemicalSubstance mondo An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group). http://purl.obolibrary.org/obo/CHEBI_23357 cofactor|cofactors MONDO:0005920 Plasmodium falciparum malaria biolink:Disease mondo EFO:0007444|UMLS:C0024535|ICD9:084.9|DOID:14067|COHD:438343|ICD10:B50|MESH:D016778|NCIT:C34798|ICD9:084.0|SCTID:62676009|ICD10:B50.9 Malaria resulting from infection by Plasmodium falciparum. SNOMEDCT:62676009|MESH:D016778|DOID:14067|NCIT:C34798|UMLS:C0024535 http://purl.obolibrary.org/obo/MONDO_0005920 falciparum malaria|malaria fever, subtertian|malignant tertian fever (finding)|Plasmodium falciparum malaria, unspecified|falciparum malaria [malignant tertian]|malignant tertian fever MONDO:0017909 inherited glutathione synthetase deficiency biolink:Disease mondo UMLS:C0398746|SCTID:234589002|Orphanet:32|ICD10:D55.1|MESH:C536835|NCIT:C128193|GARD:0010047 Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. NCIT:C128193|UMLS:C0398746|SNOMEDCT:234589002|MESH:C536835|ORPHA:32|UMLS:C1291643 http://purl.obolibrary.org/obo/MONDO_0017909 pyroglutamicaciduria|rare inborn error of glutathione synthase activity|glutathione synthetase deficiency|inborn error of glutathione synthase activity|inborn glutathione synthase activity disorder|5-oxoprolinuria|rare inborn error of glutathione synthase activity|pyroglutamic aciduria|oxoprolinase deficiency|GSSD|glutathione synthetase deficiency ordo_disease HP:0031466 Impairment in personality functioning biolink:PhenotypicFeature mondo A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. http://purl.obolibrary.org/obo/HP_0031466 MONDO:0017905 X-linked mendelian susceptibility to mycobacterial diseases biolink:Disease mondo ICD10:D84.8|Orphanet:319605|SCTID:719814009|UMLS:C4304413|UMLS:CN203967 X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males. UMLS:C4304413|SNOMEDCT:719814009|ORPHA:319605|UMLS:CN203967 http://purl.obolibrary.org/obo/MONDO_0017905 X-linked MSMD|mendelian susceptibility to mycobacterial diseases, X-linked ordo_disease|predisposition MONDO:0017906 amyloidosis cutis dyschromia biolink:Disease mondo ICD10:L99.0*|Orphanet:319635|ICD10:E85.4+ Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. ORPHA:319635 http://purl.obolibrary.org/obo/MONDO_0017906 amyloidosis cutis dyschromica ordo_disease UBERON:0014783 cloacal muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a cloaca. http://purl.obolibrary.org/obo/UBERON_0014783 UBERON:0012125 dermatological-muscosal system biolink:AnatomicalEntity mondo Anatomical system that consists of the integumental system plus all mucosae and submucosae. http://purl.obolibrary.org/obo/UBERON_0012125 dermatological system MONDO:0017907 primary lymphoma of the conjunctiva biolink:Disease mondo UMLS:CN203974|Orphanet:319667|ICD10:C85.7|SCTID:763477007 Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare. SNOMEDCT:763477007|ORPHA:319667|UMLS:CN203974 http://purl.obolibrary.org/obo/MONDO_0017907 conjunctiva primary organ-specific lymphoma|lymphoma of conjunctiva|conjunctiva lymphoma|primary lymphoid conjunctival tumor|primary organ-specific lymphoma of conjunctiva ordo_disease MONDO:0017908 obsolete hyperekplexia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017908 MONDO:0017912 X-linked pure spastic paraplegia biolink:Disease mondo ICD10:G11.4|Orphanet:320332 ORPHA:320332 http://purl.obolibrary.org/obo/MONDO_0017912 ordo_group_of_disorders MONDO:0017913 pure or complex hereditary spastic paraplegia biolink:Disease mondo ICD10:G11.4|UMLS:CN227219|Orphanet:320335 UMLS:CN227219|ORPHA:320335 http://purl.obolibrary.org/obo/MONDO_0017913 Pure or complex familial spastic paraplegia|Pure or complicated hereditary spastic paraplegia|Pure or complicated familial spastic paraplegia ordo_group_of_disorders MONDO:0017914 pure or complex autosomal dominant spastic paraplegia biolink:Disease mondo Orphanet:320342|ICD10:G11.4 ORPHA:320342 http://purl.obolibrary.org/obo/MONDO_0017914 Pure or complicated autosomal dominant spastic paraplegia ordo_group_of_disorders MONDO:0017915 pure or complex autosomal recessive spastic paraplegia biolink:Disease mondo ICD10:G11.4|Orphanet:320346 ORPHA:320346 http://purl.obolibrary.org/obo/MONDO_0017915 Pure or complicated autosomal recessive spastic paraplegia ordo_group_of_disorders CHEBI:35337 central nervous system stimulant biolink:ChemicalSubstance mondo Any drug that enhances the activity of the central nervous system. http://purl.obolibrary.org/obo/CHEBI_35337 analeptic|analeptics|central nervous system stimulant|analeptic drug|CNS stimulant|central stimulant|analeptic agent MONDO:0017910 dehydrated hereditary stomatocytosis biolink:Disease mondo DC:0000714|ICD10:D58.8|SCTID:715526002|Orphanet:3202|GARD:0005623 Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. ORPHA:3202|SNOMEDCT:715526002 http://purl.obolibrary.org/obo/MONDO_0017910 hereditary xerocytosis|Desiccytosis hereditary|xerocytosis hereditary ordo_disease|gard_rare MONDO:0017911 cleft lip/palate-ectodermal dysplasia syndrome biolink:Disease mondo UMLS:CN229116|Orphanet:320317 UMLS:CN229116|ORPHA:320317 http://purl.obolibrary.org/obo/MONDO_0017911 CLEPD ordo_group_of_disorders CHEBI:35338 amphetamines biolink:ChemicalSubstance mondo Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine. http://purl.obolibrary.org/obo/CHEBI_35338 amphetamine drug MONDO:0005919 placental insufficiency biolink:Disease mondo ICD10:O36.5|SCTID:237292005|DOID:3891|UMLS:C0032051|EFO:0007443|ICD9:762.2|MESH:D010927|Orphanet:439167 Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus. DOID:3891|SNOMEDCT:237292005|MESH:D010927|ORPHA:439167|UMLS:C0032051 http://purl.obolibrary.org/obo/MONDO_0005919 uteroplacental vascular insufficiency|insufficiency, placental ordo_clinical_syndrome MONDO:0005916 placenta accreta biolink:Disease mondo DOID:4744|NCIT:C26856|ICD10:O43.21|EFO:0007440|MESH:D010921|SCTID:70129008 The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize) DOID:4744|MESH:D010921|NCIT:C26856|SNOMEDCT:70129008 http://purl.obolibrary.org/obo/MONDO_0005916 placenta Percreta|placenta Increta|Percreta, placenta|accreta, placenta|Increta, placenta MONDO:0005915 pityriasis versicolor biolink:Disease mondo SCTID:56454009|EFO:0007439|NCIT:C82981|COHD:134870|ICD9:111.0|UMLS:C0040262|DOID:9060|MESH:D014010|ICD10:B36.0 A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition. UMLS:C0040262|DOID:9060|SNOMEDCT:56454009|MESH:D014010|NCIT:C82981 http://purl.obolibrary.org/obo/MONDO_0005915 tinea versicolor|Malassezia furfur infection|infections, Malassezia furfur|tinea flava|infection by Pityrosporum furfur MONDO:0005918 placenta praevia biolink:Disease mondo DOID:11060|NCIT:C26858|MESH:D010923|ICD10:O44|EFO:0007442|SCTID:36813001 Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor. DOID:11060|SNOMEDCT:36813001|MESH:D010923|NCIT:C26858 http://purl.obolibrary.org/obo/MONDO_0005918 placenta praevia|placenta previa MONDO:0005917 placenta disease biolink:Disease mondo NCIT:C26857|ICD9:646.9|ICD10:O43.9|ICD10:O43.90|GARD:0007402|EFO:0007441|MESH:D010922|ICD9:656.70|DOID:780|ICD10:O43|SCTID:125586008 A disease involving the placenta. DOID:780|NCIT:C34941|MESH:D010922|NCIT:C26857|SNOMEDCT:125586008 http://purl.obolibrary.org/obo/MONDO_0005917 disease, placenta|placental disease|placenta disease|placental disorder|placenta disease or disorder|disorder of placenta|placental diseases|diseases, placenta|placenta disorder|diseases, placental|placenta diseases|disease of placenta|disorders, placenta|placenta disorders|disease or disorder of placenta|disorder of placenta|disease, placental|disorder, placenta MONDO:0005934 obsolete pyruvate decarboxylase deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005934 MONDO:0005933 pulmonary blastoma biolink:Disease mondo ICDO:8972/3|UMLS:C0206629|ICD9:162.9|NCIT:C3732|ICD10:C34.9|ICD10:C34.8|DOID:4765|SCTID:189815007|ICD10:C34.3|MESH:D018202|ICD10:C34.2|ICD10:C34.1|EFO:0007458|Orphanet:64741 A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic. MESH:D018202|ORPHA:64741|NCIT:C3732|SNOMEDCT:189815007|DOID:4765|UMLS:C0206629 http://purl.obolibrary.org/obo/MONDO_0005933 blastoma of the lung|blastoma of lung|lung blastoma|Pneumoblastoma|pulmonary blastoma ordo_disease CHEBI:23367 molecular entity biolink:ChemicalSubstance mondo Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity. http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity|entidades moleculares|molecular entities|molekulare Entitaet|entidad molecular|entite moleculaire MONDO:0005936 recurrent pneumonia (disease) biolink:Disease mondo EFO:0007461|HP:0006532|SCTID:699014000 Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae. SNOMEDCT:699014000 http://purl.obolibrary.org/obo/MONDO_0005936 recurrent pneumonia MONDO:0005935 obsolete reactive arthritis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005935 UBERON:0014770 palpebral artery biolink:AnatomicalEntity mondo An artery that supplies blood to an eyelid. http://purl.obolibrary.org/obo/UBERON_0014770 MONDO:0005930 obsolete postpoliomyelitis syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005930 UBERON:0000127 facial nucleus biolink:AnatomicalEntity mondo the group of motor neurons residing in the pons that innervate the muscles of facial expression http://purl.obolibrary.org/obo/UBERON_0000127 facial nerve nucleus|facial VII motor nucleus|facial VII nucleus|nucleus of facial nerve MONDO:0005932 pseudorabies biolink:Disease mondo MESH:D011557|UMLS:C0033839|EFO:0007457 A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals. UMLS:C0033839|MESH:D011557 http://purl.obolibrary.org/obo/MONDO_0005932 MONDO:0005931 obsolete progressive multifocal leukoencephalopathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005931 UBERON:0014775 prosomere biolink:AnatomicalEntity mondo A neuromere that is part of the presumptive forebrain http://purl.obolibrary.org/obo/UBERON_0014775 future prosencephalon|segment of forebrain|forebrain segment|forebrain neuromere UBERON:0014776 midbrain neuromere biolink:AnatomicalEntity mondo A neuromere that is part of the presumptive midbrain http://purl.obolibrary.org/obo/UBERON_0014776 neuromere of mesomere group|mesomere group|future mesencephalon|midbrain segment|mesomere of nervous system|mesomere|segment of midbrain UBERON:0014777 spinal neuromere biolink:AnatomicalEntity mondo A neuromere that is part of the presumptive spinal cord http://purl.obolibrary.org/obo/UBERON_0014777 spinal cord metameric segment|spinal neuromeres|spinal cord segment MONDO:0017901 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency biolink:Disease mondo UMLS:CN203960|Orphanet:319569|ICD10:D84.8 Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). ORPHA:319569|UMLS:CN203960 http://purl.obolibrary.org/obo/MONDO_0017901 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive MSMD due to partial IFNgammaR1 deficiency|autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency ordo_disease|predisposition CHEBI:35344 21-hydroxy steroid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35344 21-hydroxy steroids|21-hydroxysteroids|21-Hydroxysteroid HGNC:9438 PRKRA biolink:OntologyClass mondo http://identifiers.org/hgnc/9438 MONDO:0017902 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency biolink:Disease mondo UMLS:CN203961|ICD10:D84.8|Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). ORPHA:319574|UMLS:CN203961 http://purl.obolibrary.org/obo/MONDO_0017902 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal recessive MSMD due to partial IFNgammaR2 deficiency|autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency ordo_disease|predisposition HGNC:9439 DNAJC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/9439 CHEBI:35346 11beta-hydroxy steroid biolink:ChemicalSubstance mondo Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration. http://purl.obolibrary.org/obo/CHEBI_35346 11beta-Hydroxysteroid|an 11beta-hydroxysteroid|11beta-hydroxy steroids|11beta-hydroxysteroids MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency biolink:Disease mondo Orphanet:319589|ICD10:D84.8|UMLS:CN203963 Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). ORPHA:319589|UMLS:CN203963 http://purl.obolibrary.org/obo/MONDO_0017903 autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal dominant MSMD due to partial IFNgammaR2 deficiency ordo_disease|predisposition MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome biolink:Disease mondo SCTID:723583009|ICD10:K76.8|UMLS:C2931508|GARD:0005015|Orphanet:3196|MESH:C537490 Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. UMLS:C2931508|SNOMEDCT:723583009|ORPHA:3196|MESH:C537490 http://purl.obolibrary.org/obo/MONDO_0017904 severe dental aberrations in familial steroid dehydrogenase deficiency|Lyngstadaas syndrome|steroid dehydrogenase deficiency dental anomalies ordo_disease UBERON:0014768 superior palpebral vein biolink:AnatomicalEntity mondo A blood vessel that drains from from an upper eyelid. http://purl.obolibrary.org/obo/UBERON_0014768 venae palpebrales superiores UBERON:0014769 palpebral vein biolink:AnatomicalEntity mondo A blood vessel that drains from from an eyelid. http://purl.obolibrary.org/obo/UBERON_0014769 venae palpebrales|palpebral veins MONDO:0017900 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency biolink:Disease mondo Orphanet:319547|UMLS:CN203956|ICD10:D84.8 Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). ORPHA:319547|UMLS:CN203956 http://purl.obolibrary.org/obo/MONDO_0017900 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2|MSMD due to complete interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete IFNgammaR2 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency ordo_disease|predisposition MONDO:0005927 polyomavirus infectious disease biolink:Disease mondo UMLS:C0949804|MESH:D027601|EFO:0007451 Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal). UMLS:C0949804|MESH:D027601 http://purl.obolibrary.org/obo/MONDO_0005927 UBERON:0002792 lumbar spinal cord biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0002792 pars lumbalis medullae spinalis|lumbar segment of spinal cord|lumbar segments of spinal cord [1-5]|spinal cord lumbar segment|lumbar spinal cord|segmenta lumbalia medullae spinalis [1-5] MONDO:0005926 obsolete poliomyelitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005926 MONDO:0005929 postpartum depression biolink:Disease mondo SCTID:279225001|NCIT:C92852|MESH:D019052|EFO:0007453|DOID:9478|ICD10:F53 A type of clinical depression that occurs after childbirth. MESH:D019052|SNOMEDCT:279225001|NCIT:C92852|DOID:9478 http://purl.obolibrary.org/obo/MONDO_0005929 postpartum depression|postnatal depression|depression, post-partum|post-partum depression|post partum depression|post Natal depression|major depressive episode with peripartum onset|depression, post-Natal|depressive episode with postpartum onset|maternity blues|post-Natal depression|depression, postnatal MONDO:0005928 post-thrombotic syndrome biolink:Disease mondo ICD9:459.11|ICD9:459.10|SCTID:20427003|DOID:2364|EFO:0007452|ICD10:I87.0|ICD9:459.1|ICD9:459.13|ICD9:459.12|MESH:D011186 A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing. MESH:D011186|DOID:2364|SNOMEDCT:20427003 http://purl.obolibrary.org/obo/MONDO_0005928 postphlebetic syndrome with ulcer and inflammation|postphlebetic syndrome with inflammation|postphlebitic syndrome|venous stress disorder|postphlebetic syndrome with ulcer CHEBI:35341 steroid biolink:ChemicalSubstance mondo Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids. http://purl.obolibrary.org/obo/CHEBI_35341 Steroid|a steroid|steroids WIKIDATA:Q715269 World Ocean biolink:OntologyClass mondo Earth's interconnected water system https://www.wikidata.org/wiki/Q715269 MONDO:0005901 pasteurellosis biolink:Disease mondo ICD10:A28.0|EFO:0007424|COHD:436897|UMLS:C0030636|DOID:11055|ICD9:027.2|SCTID:83172007|MESH:D010326 Infections with bacteria of the genus pasteurella. UMLS:C0030636|MESH:D010326|DOID:11055|SNOMEDCT:83172007 http://purl.obolibrary.org/obo/MONDO_0005901 Pasteurella infectious disease|Pasteurella caused disease or disorder|Pasteurella disease or disorder|Pasteurella infection MONDO:0005900 parotitis biolink:Disease mondo ICD10:K11.2|EFO:0007423|DOID:10301|UMLS:C0030583|NCIT:C114281|MESH:D010309|SCTID:14756005 Inflammation of the parotid glands. SNOMEDCT:14756005|NCIT:C114281|MESH:D010309|DOID:10301|UMLS:C0030583 http://purl.obolibrary.org/obo/MONDO_0005900 inflammation of parotid gland|parotid gland inflammation CHEBI:23334 cobalamins biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23334 MONDO:0005903 pericardial tuberculosis biolink:Disease mondo ICD10:A18.84|EFO:0007426|UMLS:C0031049|MESH:D010495|SCTID:67256000|ICD9:017.90|DOID:4962 Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart. DOID:4962|MESH:D010495|UMLS:C0031049|SNOMEDCT:67256000 http://purl.obolibrary.org/obo/MONDO_0005903 tuberculous pericarditis MONDO:0005902 peanut allergic reaction biolink:Disease mondo DOID:4378|SCTID:91935009|EFO:0007425|UMLS:C0559470|COHD:4240902|ICD9:995.3|MESH:D021183 Allergic reaction to peanuts that is triggered by the immune system. DOID:4378|SNOMEDCT:91935009|MESH:D021183|UMLS:C0559470 http://purl.obolibrary.org/obo/MONDO_0005902 pigmented ciliary epithelial cell nut allergic reaction|nut allergic reaction of pigmented ciliary epithelial cell|allergy to peanuts|peanut allergy|peanut allergic reaction UBERON:0000117 respiratory tube biolink:AnatomicalEntity mondo A tube in the respiratory system. Examples: bronchus, bronchiole, trachea. http://purl.obolibrary.org/obo/UBERON_0000117 airway|segment of tracheobronchial tree|tracheobronchial tree segment|respiratory conducting tube|segment of tracheobronchial tree UBERON:0000118 lung bud biolink:AnatomicalEntity mondo Structure derived from foregut that becomes a lung[GO]. http://purl.obolibrary.org/obo/UBERON_0000118 gemma pulmonalis|respiratory diverticulum|gemma respiratoria|lung bud|primary lung bud UBERON:0000119 cell layer biolink:AnatomicalEntity mondo Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. http://purl.obolibrary.org/obo/UBERON_0000119 sheath of cells|cell sheath|layer of cells|layer UBERON:0014765 crus of diaphragm biolink:AnatomicalEntity mondo The domain of the diaphragm that is located dorsally and attaches to the vertebrae and surrounds the esophagus and aorta. http://purl.obolibrary.org/obo/UBERON_0014765 crus of the diaphragm|diaphragm crura|crura of the diaphragm|diaphragmatic crura|crural diaphragm UBERON:0014766 right crus of diaphragm biolink:AnatomicalEntity mondo A crus of diaphragm that is in_the_right_side_of a diaphragm. http://purl.obolibrary.org/obo/UBERON_0014766 crus dextrum diaphragmatis|crus dextrum (Diaphragma)|right crus of diaphragm|external sphincter of esophagus|right crus of lumbar part of diaphragm UBERON:0014767 left crus of diaphragm biolink:AnatomicalEntity mondo A crus of diaphragm that is in_the_left_side_of a diaphragm. http://purl.obolibrary.org/obo/UBERON_0014767 crus sinistrum diaphragmatis|left crus of lumbar part of diaphragm|left crus of diaphragm|crus sinistrum (Diaphragma) HP:0031481 Abnormal mitral valve physiology biolink:PhenotypicFeature mondo Any functional anomaly of the mitral valve. http://purl.obolibrary.org/obo/HP_0031481 UBERON:0012102 buccal salivary gland biolink:AnatomicalEntity mondo A salivary gland that is part of a cheek. http://purl.obolibrary.org/obo/UBERON_0012102 HGNC:9449 PRNP biolink:OntologyClass mondo http://identifiers.org/hgnc/9449 UBERON:0002786 root of abducens nerve biolink:AnatomicalEntity mondo Nerve fibers arising from motor neurons in the abducens nucleus that are contained within the pontine tegmentum http://purl.obolibrary.org/obo/UBERON_0002786 root of abducens nerve|central part of abducens nerve|fibrae nervi abducentis|abducens nerve root|abducens nerve/root|abducens nerve tract|abducens nerve fibers GO:0000902 cell morphogenesis biolink:OntologyClass mondo The developmental process in which the size or shape of a cell is generated and organized. http://purl.obolibrary.org/obo/GO_0000902 cellular morphogenesis UBERON:0000124 epineurium biolink:AnatomicalEntity mondo A loose connective tissue sheath surrounding each peripheral nerve. Composed mainly of colagen and fibroblasts, it forms a substantial covering over nerve trunks, then thins to an incomplete layer around smaller branches near their terminations. The epineurium is continuous centrally with the dura. Peripherally, it usually ends near the termination of a nerve fiber, but it may continue as the capsule of Meissner corpuscles and a few other encapsulated endings. Nolte, J. The Human Brain 3rd edition http://purl.obolibrary.org/obo/UBERON_0000124 GO:0000904 cell morphogenesis involved in differentiation biolink:OntologyClass mondo The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. http://purl.obolibrary.org/obo/GO_0000904 UBERON:0000125 neural nucleus biolink:AnatomicalEntity mondo A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) http://purl.obolibrary.org/obo/UBERON_0000125 nervous system nucleus|nucleus of neuraxis|nucleus of CNS|nucleus|neuraxis nucleus|neuronal nucleus UBERON:0000126 cranial nerve nucleus biolink:AnatomicalEntity mondo Nucleus that receives projections from or contains neurons that send projections through one of the cranial nerves http://purl.obolibrary.org/obo/UBERON_0000126 nucleus nervi cranialis|cranial neural nucleus|nucleus of cranial nerve UBERON:0002787 decussation of trochlear nerve biolink:AnatomicalEntity mondo the crossing of the two trochlear nerves at their exit through the velum medullare anterius. http://purl.obolibrary.org/obo/UBERON_0002787 trochlear decussation|decussatio fibrarum nervorum trochlearium|decussation of the trochlear nerve|decussation of trochlear nerve fibers|trochlear nerve decussation|decussation of trochlear nerve (IV)|decussatio nervorum trochlearium|decussatio trochlearis|trochlear neural decussation HGNC:9446 PRLR biolink:OntologyClass mondo http://identifiers.org/hgnc/9446 UBERON:0000121 perineurium biolink:AnatomicalEntity mondo A layer of thin, concentrically arranged cells with interspersed collagen that lies within the epineurium. (Nolte, J., The Human Brain 3rd edition) http://purl.obolibrary.org/obo/UBERON_0000121 UBERON:0000122 neuron projection bundle biolink:AnatomicalEntity mondo A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. http://purl.obolibrary.org/obo/UBERON_0000122 funiculus|nerve fiber bundle|neural fiber bundle MONDO:0005912 phencyclidine abuse biolink:Disease mondo EFO:0007436|SCTID:7071007|DOID:5062|MESH:D010623|ICD9:305.90 The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning. MESH:D010623|SNOMEDCT:7071007|DOID:5062 http://purl.obolibrary.org/obo/MONDO_0005912 PCP abuse|phencyclidine abuse UBERON:0000109 gastrula stage biolink:AnatomicalEntity mondo A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/UBERON_0000109 trilaminar blastocyst stage|trilaminar disk stage|trilaminar germ stage|blastocystis trilaminaris stage|trilaminar stage|trilaminar blastoderm stage MONDO:0005911 pharyngoconjunctival fever biolink:Disease mondo DOID:13801|NCIT:C34924|ICD9:077.2|EFO:0007434|MESH:D000258|SCTID:70385007|UMLS:C0031351 A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus. NCIT:C34924|DOID:13801|UMLS:C0031351|SNOMEDCT:70385007|MESH:D000258 http://purl.obolibrary.org/obo/MONDO_0005911 pharyngoconjunctival fever|pharyngo-conjunctival fever|Adenoviral pharyngoconjunctivitis MONDO:0005914 Picornaviridae infectious disease biolink:Disease mondo EFO:0007438|UMLS:C0031887|MESH:D010850 Virus diseases caused by the picornaviridae. MESH:D010850|UMLS:C0031887 http://purl.obolibrary.org/obo/MONDO_0005914 Picornaviridae infection|infections, Picornaviridae MONDO:0005913 phlebotomus fever biolink:Disease mondo ICD10:A93.1|EFO:0007437|UMLS:C0030372|MESH:D010217|DOID:11360|ICD9:066.0|SCTID:407476002 Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii. MESH:D010217|DOID:11360|SNOMEDCT:407476002|UMLS:C0030372 http://purl.obolibrary.org/obo/MONDO_0005913 pappataci fever|Sandfly-borne phleboviral disease|Sandfly fever|Sandfly-borne Bunyavirus fever|Sandfly-borne arboviral fever UBERON:0000105 life cycle stage biolink:AnatomicalEntity mondo A spatiotemporal region encompassing some part of the life cycle of an organism. http://purl.obolibrary.org/obo/UBERON_0000105 stage|developmental stage UBERON:0000106 zygote stage biolink:AnatomicalEntity mondo A stage at which the organism is a single cell produced by means of sexual reproduction. http://purl.obolibrary.org/obo/UBERON_0000106 zygote|fertilized egg stage|one-cell stage|zygotum|1-cell stage|one cell stage|fertilized egg stage MONDO:0005910 phagocyte bactericidal dysfunction biolink:Disease mondo MESH:D010585|UMLS:C0031306|EFO:0007433|DOID:3262 Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. DOID:3262|MESH:D010585|UMLS:C0031306 http://purl.obolibrary.org/obo/MONDO_0005910 phagocytic dysfunction NCBITaxon:58262 Culicoidini organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_58262 UBERON:0000107 cleavage stage biolink:AnatomicalEntity mondo The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. http://purl.obolibrary.org/obo/UBERON_0000107 UBERON:0000108 blastula stage biolink:AnatomicalEntity mondo An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/UBERON_0000108 CHEBI:50949 serotonin uptake inhibitor biolink:ChemicalSubstance mondo A compound that specifically inhibits the reuptake of serotonin in the brain. This increases the serotonin concentration in the synaptic cleft which then activates serotonin receptors to a greater extent. http://purl.obolibrary.org/obo/CHEBI_50949 SSRI|serotonin reuptake inhibitor CHEBI:23341 cobamides biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23341 UBERON:0000112 sexually immature stage biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0000112 immature stage|subadult stage|juvenile stage MONDO:0005909 pestivirus infectious disease biolink:Disease mondo MESH:D018182|UMLS:C0206611|EFO:0007432 Infections with viruses of the genus pestivirus, family flaviviridae. UMLS:C0206611|MESH:D018182 http://purl.obolibrary.org/obo/MONDO_0005909 Pestivirus disease or disorder|infection, Pestivirus|infections, Pestivirus|Pestivirus infection|Pestivirus infectious disease|Pestivirus caused disease or disorder MONDO:0005908 peste des petits ruminants infectious disease biolink:Disease mondo EFO:0007431|UMLS:C0949885|MESH:D029021 A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia. UMLS:C0949885|MESH:D029021 http://purl.obolibrary.org/obo/MONDO_0005908 Peste des petits ruminants|Pseudorinderpest|Small ruminant morbillivirus infectious disease|Small ruminant morbillivirus caused disease or disorder|Small ruminant morbillivirus disease or disorder UBERON:0000113 post-juvenile adult stage biolink:AnatomicalEntity mondo The stage of being a sexually mature adult animal. http://purl.obolibrary.org/obo/UBERON_0000113 adult stage HGNC:9453 PRODH biolink:OntologyClass mondo http://identifiers.org/hgnc/9453 UBERON:0000114 lung connective tissue biolink:AnatomicalEntity mondo the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin http://purl.obolibrary.org/obo/UBERON_0000114 pulmonary interstitial tissue|lung interstitial tissue|pulmonary interstitium|pulmonary connective tissue|lung interstitium|connective tissue of lung UBERON:0000115 lung epithelium biolink:AnatomicalEntity mondo The epithelial layer of the lung. http://purl.obolibrary.org/obo/UBERON_0000115 pulmonary epithelium|lung epithelial tissue|epithelial tissue of lung|epithelium of lung HGNC:9451 PROC biolink:OntologyClass mondo http://identifiers.org/hgnc/9451 HGNC:9456 PROS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9456 MONDO:0005905 periodic limb movement disorder biolink:Disease mondo EFO:0007428|ICD9:327.51|ICD10:G47.61|SCTID:418763003|UMLS:C0751774|DOID:9207 Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387) SNOMEDCT:418763003|UMLS:C0751774|DOID:9207 http://purl.obolibrary.org/obo/MONDO_0005905 nocturnal myoclonus MONDO:0005904 pericarditis (disease) biolink:Disease mondo EFO:0007427|UMLS:C0031046|HP:0001701|DOID:1787|SCTID:3238004|NCIT:C34915|MESH:D010493 An inflammatory process affecting the pericardium. SNOMEDCT:3238004|NCIT:C34915|MESH:D010493|DOID:1787|UMLS:C0031046 http://purl.obolibrary.org/obo/MONDO_0005904 inflammation of pericardium|pericarditis|pericardium inflammation HGNC:9457 PLPBP biolink:OntologyClass mondo http://identifiers.org/hgnc/9457 MONDO:0005907 persian gulf syndrome biolink:Disease mondo DOID:4491|UMLS:C0282550|ICD9:300.89|MESH:D018923|SCTID:95877004|EFO:0007430 Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8) UMLS:C0282550|DOID:4491|SNOMEDCT:95877004|MESH:D018923 http://purl.obolibrary.org/obo/MONDO_0005907 Gulf war syndrome HGNC:9454 PROM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9454 UBERON:0000110 neurula stage biolink:AnatomicalEntity mondo Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/UBERON_0000110 MONDO:0005906 peritonsillar abscess biolink:Disease mondo EFO:0007429|UMLS:C0031157|MESH:D000039|COHD:440751|NCIT:C128322|SCTID:15033003|ICD9:475|ICD10:J36 An abscess that develops in the space surrounding one or both palatine tonsils. MESH:D000039|NCIT:C128322|SNOMEDCT:15033003|UMLS:C0031157 http://purl.obolibrary.org/obo/MONDO_0005906 quinsy UBERON:0002772 olfactory sulcus biolink:AnatomicalEntity mondo The medial orbital gyrus presents a well-marked antero-posterior sulcus, the olfactory sulcus, for the olfactory tract. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002772 olfactory groove|sulcus olfactorius|sulcus olfactorius lobi frontalis|OLFS UBERON:0000111 organogenesis stage biolink:AnatomicalEntity mondo A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. http://purl.obolibrary.org/obo/UBERON_0000111 segmentation stage HGNC:9455 PROP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9455 ECTO:0000689 P450 inhibitor exposure biolink:OntologyClass mondo An exposure to P450 inhibitor. http://purl.obolibrary.org/obo/ECTO_0000689 exposure to P450 inhibitor GO:0034311 diol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a diol, a compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. http://purl.obolibrary.org/obo/GO_0034311 dihydric alcohol metabolic process|diol metabolism HGNC:30587 SNIP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30587 ECTO:0000699 probe exposure biolink:OntologyClass mondo An exposure to probe. http://purl.obolibrary.org/obo/ECTO_0000699 exposure to probe GO:0034308 primary alcohol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://purl.obolibrary.org/obo/GO_0034308 monohydric alcohol metabolic process|primary alcohol metabolism GO:0034309 primary alcohol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://purl.obolibrary.org/obo/GO_0034309 primary alcohol synthesis|monohydric alcohol biosynthetic process|primary alcohol formation|primary alcohol biosynthesis|primary alcohol anabolism HGNC:29597 IRGM biolink:OntologyClass mondo http://identifiers.org/hgnc/29597 HGNC:29594 UQCRQ biolink:OntologyClass mondo http://identifiers.org/hgnc/29594 HGNC:30578 EXPH5 biolink:OntologyClass mondo http://identifiers.org/hgnc/30578 HGNC:17582 KAT6B biolink:OntologyClass mondo http://identifiers.org/hgnc/17582 HGNC:29569 LIPT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29569 UBERON:0014701 extraembryonic vascular system biolink:AnatomicalEntity mondo A vascular system that overlaps a umbilical cord and is part of a entire extraembryonic component. http://purl.obolibrary.org/obo/UBERON_0014701 HGNC:29561 ARV1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29561 GO:0010324 membrane invagination biolink:OntologyClass mondo The infolding of a membrane. http://purl.obolibrary.org/obo/GO_0010324 single-organism membrane invagination UBERON:0002722 trochlear nucleus biolink:AnatomicalEntity mondo Nucleus in the midbrain at the level of the inferior colliculus near the midline, containing the motor neurons giving rise to the trochlear nerve, innervating the contralateral superior oblique extraocular muscle of the eye (Brodal, Neurological Anatomy, 3rd ed, 1981, pg. 533). http://purl.obolibrary.org/obo/UBERON_0002722 trochlear motor nucleus|nucleus nervi trochlearis|motor nucleus IV|trochlear IV nucleus|fourth cranial nerve nucleus|nucleus of trochlear nerve|nucleus nervi trochlearis|nIV ECTO:0000672 agonist exposure biolink:OntologyClass mondo An exposure to agonist. http://purl.obolibrary.org/obo/ECTO_0000672 exposure to agonist HGNC:30546 FDX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30546 ECTO:0010003 exposure to physical object quality biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to physical object quality. http://purl.obolibrary.org/obo/ECTO_0010003 physical object quality exposure ECTO:0010001 exposure to qualitative biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to qualitative. http://purl.obolibrary.org/obo/ECTO_0010001 qualitative exposure ECTO:0010000 exposure to quality biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to quality. http://purl.obolibrary.org/obo/ECTO_0010000 quality exposure UBERON_CORE:layer_part_of layer part of biolink:OntologyClass mondo http://purl.obolibrary.org/obo/uberon/core#layer_part_of HGNC:30551 TXNL4A biolink:OntologyClass mondo http://identifiers.org/hgnc/30551 HGNC:30539 DNAAF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30539 OBO:mondo#disease_has_major_feature disease has major feature biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#disease_has_major_feature GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific biolink:OntologyClass mondo A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. http://purl.obolibrary.org/obo/GO_0000981 RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding|transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|transcription factor|transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity|metal ion regulated sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated proximal promoter sequence-specific DNA binding|copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcription factor activity, zinc ion regulated core promoter proximal region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, copper ion regulated proximal promoter sequence-specific DNA binding|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, copper ion regulated core promoter proximal region sequence-specific binding|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, zinc ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcription factor activity, metal ion regulated sequence-specific DNA binding|transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity|RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0009311 oligosaccharide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. http://purl.obolibrary.org/obo/GO_0009311 oligosaccharide metabolism|multicellular organismal oligosaccharide metabolic process GO:0009314 response to radiation biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. http://purl.obolibrary.org/obo/GO_0009314 response to radiation stimulus|response to electromagnetic radiation stimulus HP:0006476 Abnormality of the pancreatic islet cells biolink:PhenotypicFeature mondo UMLS:C4025043 An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. http://purl.obolibrary.org/obo/HP_0006476 ECTO:0000650 Bronsted acid exposure biolink:OntologyClass mondo An exposure to Bronsted acid. http://purl.obolibrary.org/obo/ECTO_0000650 exposure to Bronsted acid HP:0031409 Abnormal lymphocyte physiology biolink:PhenotypicFeature mondo Any anomaly of lymphocyte function. http://purl.obolibrary.org/obo/HP_0031409 GO:0000988 obsolete transcription factor activity, protein binding biolink:OntologyClass mondo OBSOLETE. Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules), in order to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well. http://purl.obolibrary.org/obo/GO_0000988 protein binding transcription factor activity|transcription factor activity HGNC:30528 DNAJC19 biolink:OntologyClass mondo http://identifiers.org/hgnc/30528 ECTO:0000657 disinfectant exposure biolink:OntologyClass mondo An exposure to disinfectant. http://purl.obolibrary.org/obo/ECTO_0000657 exposure to disinfectant HGNC:29557 NEXN biolink:OntologyClass mondo http://identifiers.org/hgnc/29557 HP:0006487 Bowing of the long bones biolink:PhenotypicFeature mondo UMLS:C1855340 A bending or abnormal curvature of a long bone. http://purl.obolibrary.org/obo/HP_0006487 Diaphyseal bowing|Bowing of long bones|Bowing of the long bones|Camptomelia|Diaphyseal bowing of long bones|Bowed long bones HP:0006483 Abnormal number of teeth biolink:PhenotypicFeature mondo SNOMEDCT_US:335443002|UMLS:C1290508 The presence of an altered number of of teeth. http://purl.obolibrary.org/obo/HP_0006483 Abnormal number of teeth|Abnormal complement of teeth|Abnormal tooth count MONDO:0003388 ampulla of vater clear cell adenocarcinoma biolink:Disease mondo UMLS:C1332246|DOID:5308|NCIT:C27414 A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei. NCIT:C27414|UMLS:C1332246|DOID:5308 http://purl.obolibrary.org/obo/MONDO_0003388 hepatopancreatic ampulla clear cell adenocarcinoma|ampulla of Vater clear cell adenocarcinoma GO:1900118 negative regulation of execution phase of apoptosis biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis. http://purl.obolibrary.org/obo/GO_1900118 downregulation of execution phase of apoptosis|down regulation of execution phase of apoptosis|inhibition of execution phase of apoptosis|down-regulation of execution phase of apoptosis MONDO:0003389 epithelial-myoepithelial carcinoma biolink:Disease mondo GARD:0006364|ONCOTREE:EMYOCA|DOID:5309|UMLS:C0334392|ICDO:8562/3|NCIT:C4199 A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm. NCIT:C4199|UMLS:C0334392|DOID:5309 http://purl.obolibrary.org/obo/MONDO_0003389 epithelial-myoepithelial carcinoma|EMYOCA GO:1900117 regulation of execution phase of apoptosis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of execution phase of apoptosis. http://purl.obolibrary.org/obo/GO_1900117 GO:1900119 positive regulation of execution phase of apoptosis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis. http://purl.obolibrary.org/obo/GO_1900119 up regulation of execution phase of apoptosis|up-regulation of execution phase of apoptosis|activation of execution phase of apoptosis|upregulation of execution phase of apoptosis HGNC:29643 MLPH biolink:OntologyClass mondo http://identifiers.org/hgnc/29643 MONDO:0003384 uterine ligament clear cell adenocarcinoma biolink:Disease mondo NCIT:C40139|UMLS:C1519867|DOID:5302 A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated. NCIT:C40139|DOID:5302|UMLS:C1519867 http://purl.obolibrary.org/obo/MONDO_0003384 uterine ligament clear cell adenocarcinoma MONDO:0003385 obsolete cervical clear cell adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003385 GO:1900116 extracellular negative regulation of signal transduction biolink:OntologyClass mondo Any negative regulation of signal transduction that takes place in extracellular region. http://purl.obolibrary.org/obo/GO_1900116 down-regulation of signal transduction in extracellular region|negative regulation of signaling pathway in extracellular region|negative regulation of signalling pathway in extracellular region|down regulation of signal transduction in extracellular region|extracellular inhibition of signaling pathway|inhibition of signal transduction in extracellular region|downregulation of signal transduction in extracellular region MONDO:0003386 bladder clear cell adenocarcinoma biolink:Disease mondo NCIT:C6179|DOID:5306|UMLS:C1332557 A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria. DOID:5306|UMLS:C1332557|NCIT:C6179 http://purl.obolibrary.org/obo/MONDO_0003386 bladder clear cell adenocarcinoma|urinary bladder clear cell adenocarcinoma|clear cell adenocarcinoma of the urinary bladder|clear cell adenocarcinoma of urinary bladder|clear cell adenocarcinoma of the bladder|clear cell adenocarcinoma of bladder|bladder mesonephric adenocarcinoma MONDO:0003387 urethra clear cell adenocarcinoma biolink:Disease mondo DOID:5307|NCIT:C6172|UMLS:C1336886 A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells. UMLS:C1336886|DOID:5307|NCIT:C6172 http://purl.obolibrary.org/obo/MONDO_0003387 urethral clear cell adenocarcinoma|clear cell adenocarcinoma of the urethra|clear cell adenocarcinoma of urethra|urethra clear cell adenocarcinoma GO:1900115 extracellular regulation of signal transduction biolink:OntologyClass mondo Any regulation of signal transduction that takes place in the extracellular region. http://purl.obolibrary.org/obo/GO_1900115 regulation of signaling pathway in extracellular region|regulation of signalling pathway in extracellular region MONDO:0003380 obsolete endometrial clear cell adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003380 MONDO:0003381 pituitary gland disease biolink:Disease mondo ICD9:253.1|NCIT:C26854|SCTID:399244003|COHD:23986|DOID:53|MESH:D010900|ICD9:253.9|ICD9:253.8 A disease involving the pituitary gland. DOID:53|NCIT:C26854|SNOMEDCT:399244003|MESH:D010900 http://purl.obolibrary.org/obo/MONDO_0003381 disorder of pituitary gland|disease or disorder of pituitary gland|pituitary gland disorder|pituitary gland disease|pituitary disease|disease of pituitary gland|pituitary gland disease or disorder|disorder of pituitary gland MONDO:0003382 eyelid disease biolink:Disease mondo ICD9:374.9|ICD10:H02.9|MESH:D005141|DOID:530|ICD9:374.89|NCIT:C26768|ICD10:H00|SCTID:60113004 A disease involving the eyelid. NCIT:C26768|DOID:530|SNOMEDCT:60113004|MESH:D005141 http://purl.obolibrary.org/obo/MONDO_0003382 disorder of eyelid|disease of eyelid|disease or disorder of eyelid|eyelid disease|eyelid disorder|eyelid disease or disorder|disorder of eyelid MONDO:0027353 autosomal recessive dyskeratosis congenita 4 biolink:Disease mondo DOID:0070021 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33. DOID:0070021 http://purl.obolibrary.org/obo/MONDO_0027353 DKCB4 MONDO:0003383 fallopian tube clear cell adenocarcinoma biolink:Disease mondo UMLS:C1333591|DOID:5301|NCIT:C6280 A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells. UMLS:C1333591|DOID:5301|NCIT:C6280 http://purl.obolibrary.org/obo/MONDO_0003383 clear cell carcinoma of the fallopian tube|clear cell adenocarcinoma of fallopian tube|fallopian tube clear cell carcinoma|clear cell adenocarcinoma of the fallopian tube|fallopian tube clear cell adenocarcinoma|clear cell carcinoma of fallopian tube MONDO:0015379 cervical dermoid cyst biolink:Disease mondo ICD10:Q18.8|Orphanet:141046|SCTID:763129001 Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia. SNOMEDCT:763129001|ORPHA:141046 http://purl.obolibrary.org/obo/MONDO_0015379 dermoid cyst of the neck ordo_morphological_anomaly MONDO:0015378 fourth branchial cleft anomaly biolink:Disease mondo SCTID:707234001|ICD10:Q18.0|Orphanet:141037 SNOMEDCT:707234001|ORPHA:141037 http://purl.obolibrary.org/obo/MONDO_0015378 fourth branchial cleft cyst|fourth branchial cleft fistula ordo_morphological_anomaly MONDO:0015373 obsolete Saldino-Mainzer syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015373 MONDO:0015372 autosomal dominant macrothrombocytopenia biolink:Disease mondo SCTID:720521008|ICD10:D69.4|UMLS:CN199474|UMLS:C4304021|Orphanet:140957 This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets. SNOMEDCT:720521008|UMLS:C4304021|ORPHA:140957|UMLS:CN199474 http://purl.obolibrary.org/obo/MONDO_0015372 ordo_disease MONDO:0015371 linear atrophoderma of Moulin biolink:Disease mondo ICD10:L90.8|UMLS:C1274753|SCTID:403395007|Orphanet:140933 Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene. UMLS:C1274753|ORPHA:140933|SNOMEDCT:403395007 http://purl.obolibrary.org/obo/MONDO_0015371 ordo_disease MONDO:0015370 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015370 MONDO:0015377 third branchial cleft anomaly biolink:Disease mondo ICD10:Q18.0|SCTID:73391000119102|Orphanet:141030 ORPHA:141030|SNOMEDCT:73391000119102 http://purl.obolibrary.org/obo/MONDO_0015377 third branchial cleft fistula|third branchial cleft cyst ordo_morphological_anomaly MONDO:0015376 first branchial cleft anomaly biolink:Disease mondo Orphanet:141013|SCTID:73371000119103|ICD10:Q18.0 ORPHA:141013|SNOMEDCT:73371000119103 http://purl.obolibrary.org/obo/MONDO_0015376 first branchial cleft cyst|first branchial cleft fistula ordo_morphological_anomaly MONDO:0015375 orofaciodigital syndrome biolink:Disease mondo ICD9:759.89|MESH:D009958|Orphanet:140997|DOID:4501|OMIMPS:311200|SCTID:52868006|GARD:0010692|ICD10:Q87.0 Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. SNOMEDCT:52868006|UMLS:C0029294|ORPHA:140997|MESH:D009958|DOID:4501 http://purl.obolibrary.org/obo/MONDO_0015375 orofaciodigital syndrome|orofaciodigital syndromes|OFD|oral-facial-digital syndromes|oral facial digital syndromes|oral-facial-digital syndrome ordo_group_of_disorders MONDO:0015374 primary central nervous system vasculitis biolink:Disease mondo MESH:C537295|GARD:0008703|Orphanet:140989|ICD10:I67.7 MESH:D020293|UMLS:C2930862|MESH:C537295|ORPHA:140989|MESH:C535276|UMLS:C0751881 http://purl.obolibrary.org/obo/MONDO_0015374 PCNSV|primary vasculitis of the central nervous system|primary CNS vasculitis|primary angiitis of the central nervous system|granulomatous angiitis of the central nervous system|primary central nervous system vasculitis|isolated angiitis of the central nervous system|PACNS ordo_disease|gard_rare SO:1000002 substitution biolink:SequenceFeature mondo A sequence alteration where the length of the change in the variant is the same as that of the reference. http://purl.obolibrary.org/obo/SO_1000002 MONDO:0003399 pineal region yolk sac tumor biolink:Disease mondo DOID:5341|NCIT:C6752|UMLS:C1335420 A yolk sac tumor that involves the pineal body. NCIT:C6752|UMLS:C1335420|DOID:5341 http://purl.obolibrary.org/obo/MONDO_0003399 pineal region yolk Sac neoplasm|pineal endodermal sinus neoplasm|endodermal sinus tumor of the pineal region|pineal body yolk sac tumor|endodermal sinus tumor of pineal region|pineal region endodermal sinus neoplasm|yolk Sac tumor of the pineal region|yolk Sac tumor of pineal region|pineal region endodermal sinus tumor|pineal region yolk sac tumor|pineal endodermal sinus tumor SO:1000008 point_mutation biolink:SequenceFeature mondo A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. http://purl.obolibrary.org/obo/SO_1000008 point mutation HGNC:29659 MESP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29659 MONDO:0003395 testicular granulosa cell tumor biolink:Disease mondo EFO:1000567|NCIT:C6357|UMLS:C1336709|DOID:5331 A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. UMLS:C1336709|DOID:5331|NCIT:C6357 http://purl.obolibrary.org/obo/MONDO_0003395 granulosa cell neoplasm of testis|testicular granulosa cell neoplasm|granulosa cell neoplasm of the testis|granulosa cell tumor of the testis|testis granulosa cell tumor|granulosa cell tumor of testis|testicular granulosa cell tumor NCBITaxon:12967 Blastocystis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12967 MONDO:0003396 epulis biolink:Disease mondo DOID:5337|NCIT:C3948|ICD9:523.8|UMLS:C0266919|SCTID:45676007 A non-neoplastic nodular lesion that arises from the gingiva. NCIT:C3948|DOID:5337|UMLS:C0266919|SNOMEDCT:45676007 http://purl.obolibrary.org/obo/MONDO_0003396 epulides|gum polyp|polyp of the gum|gingiva polyp|polyp of gum|gingival polyp|polyp of the gingiva|polyp of gingiva MONDO:0003397 gingival hypertrophy biolink:Disease mondo UMLS:C0017567|MESH:D005886|DOID:5338 Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells. MESH:D005886|UMLS:C0017567|DOID:5338 http://purl.obolibrary.org/obo/MONDO_0003397 hypertrophy of gingivae MONDO:0003398 anterograde amnesia biolink:Disease mondo ICD10:R41.1|DOID:5340|MESH:D020324 Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71) MESH:D020324|DOID:5340 http://purl.obolibrary.org/obo/MONDO_0003398 MONDO:0003391 vulvar alveolar soft part sarcoma biolink:Disease mondo DOID:5313|NCIT:C40320|UMLS:C1520069 An alveolar soft part sarcoma arising from the vulva. NCIT:C40320|DOID:5313|UMLS:C1520069 http://purl.obolibrary.org/obo/MONDO_0003391 GO:1900121 negative regulation of receptor binding biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor. http://purl.obolibrary.org/obo/GO_1900121 downregulation of receptor binding|down regulation of receptor-associated protein activity|down regulation of receptor binding|inhibition of receptor binding|down-regulation of receptor binding|inhibition of receptor ligand MONDO:0003392 fallopian tube germ cell tumor biolink:Disease mondo NCIT:C40130|UMLS:C1517114|DOID:5324 A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas. NCIT:C40130|DOID:5324|UMLS:C1517114 http://purl.obolibrary.org/obo/MONDO_0003392 fallopian tube germ cell cancer|fallopian tube germ cell tumor|fallopian tube germ cell neoplasm GO:1900120 regulation of receptor binding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a protein or other molecule binding to a receptor. http://purl.obolibrary.org/obo/GO_1900120 regulation of receptor ligand MONDO:0003393 thymus gland disease biolink:Disease mondo ICD9:254|ICD10:E32|NCIT:C26962|ICD9:254.9|UMLS:C0154199|ICD10:E32.9|DOID:533|SCTID:20673009 A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma. NCIT:C26962|SNOMEDCT:20673009|DOID:533|UMLS:C0154199 http://purl.obolibrary.org/obo/MONDO_0003393 thymus disease|thymus disorder|Thymus disorder|disorder of thymus gland|disease of thymus gland|thymus disease or disorder|disorder of thymus|disease of thymus|disease or disorder of thymus|disorder of thymus GO:1900122 positive regulation of receptor binding biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor. http://purl.obolibrary.org/obo/GO_1900122 up regulation of receptor binding|activation of receptor binding|upregulation of receptor binding MONDO:0003394 dental pulp disease biolink:Disease mondo SCTID:57203004|MESH:D003788|NCIT:C34530|ICD9:522.9|UMLS:C0011405|DOID:5330 A disease involving the dental pulp. MESH:D003788|DOID:5330|NCIT:C34530|UMLS:C0011405|SNOMEDCT:57203004 http://purl.obolibrary.org/obo/MONDO_0003394 disorder of dental pulp|dental pulp disease|disease or disorder of dental pulp|pulp disorder|disease of dental pulp|disorder of pulp of tooth|dental pulp disease or disorder|dental pulp disorder|disorder of dental pulp MONDO:0015369 Joubert syndrome and related disorders biolink:Disease mondo Orphanet:140874|UMLS:CN199461 Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. UMLS:CN199461|ORPHA:140874 http://purl.obolibrary.org/obo/MONDO_0015369 JSRD ordo_group_of_disorders MONDO:0015368 neuro-ophthalmological disease biolink:Disease mondo UMLS:CN199459|Orphanet:140653 UMLS:CN199459|ORPHA:140653 http://purl.obolibrary.org/obo/MONDO_0015368 ordo_group_of_disorders GO:1900130 regulation of lipid binding biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of lipid binding. http://purl.obolibrary.org/obo/GO_1900130 MONDO:0003390 glycogen-rich clear cell breast carcinoma biolink:Disease mondo ICDO:8315/3|NCIT:C40368|DOID:5310|UMLS:C0334319 An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen. NCIT:C40368|DOID:5310|UMLS:C0334319 http://purl.obolibrary.org/obo/MONDO_0003390 glycogen-rich carcinoma|glycogen-rich carcinoma (morphologic abnormality)|Glycogen-rich, clear cell breast carcinoma MONDO:0015367 Charlie M syndrome biolink:Disease mondo SCTID:733034007|GARD:0001261|Orphanet:1406|UMLS:CN199458|UMLS:C4518555|ICD10:Q87.0 Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. UMLS:CN199458|UMLS:C4518555|ORPHA:1406|SNOMEDCT:733034007 http://purl.obolibrary.org/obo/MONDO_0015367 gard_rare|ordo_malformation_syndrome MONDO:0015362 autosomal dominant distal hereditary motor neuropathy biolink:Disease mondo ICD10:G12.1|Orphanet:140465|UMLS:CN228930 Autosomal dominant form of distal hereditary motor neuropathy. UMLS:CN228930|ORPHA:140465 http://purl.obolibrary.org/obo/MONDO_0015362 distal hereditary motor neuropathy, autosomal dominant|autosomal dominant dHMN|autosomal dominant distal spinal muscular atrophy ordo_group_of_disorders MONDO:0015361 autosomal recessive hereditary demyelinating motor and sensory neuropathy biolink:Disease mondo Orphanet:140459|UMLS:CN228928|ICD10:G60.0 UMLS:CN228928|ORPHA:140459 http://purl.obolibrary.org/obo/MONDO_0015361 AR demyelinating HMSN ordo_group_of_disorders MONDO:0015360 autosomal dominant hereditary axonal motor and sensory neuropathy biolink:Disease mondo UMLS:CN228927|Orphanet:140456|ICD10:G60.0 UMLS:CN228927|ORPHA:140456 http://purl.obolibrary.org/obo/MONDO_0015360 ordo_group_of_disorders MONDO:0015366 autosomal recessive hereditary sensory and autonomic neuropathy biolink:Disease mondo ICD10:G60.8|Orphanet:140477|UMLS:CN228933 Autosomal recessive form of hereditary sensory and autonomic neuropathy. UMLS:CN228933|ORPHA:140477 http://purl.obolibrary.org/obo/MONDO_0015366 hereditary sensory and autonomic neuropathy, autosomal recessive ordo_group_of_disorders MONDO:0015365 autosomal dominant hereditary sensory and autonomic neuropathy biolink:Disease mondo ICD10:G60.8|Orphanet:140474|UMLS:CN228932 Autosomal dominant form of hereditary sensory and autonomic neuropathy. UMLS:CN228932|ORPHA:140474 http://purl.obolibrary.org/obo/MONDO_0015365 hereditary sensory and autonomic neuropathy, autosomal dominant ordo_group_of_disorders MONDO:0015364 hereditary sensory and autonomic neuropathy biolink:Disease mondo UMLS:C0027889|SCTID:11442006|GARD:0012688|DOID:0050548|COHD:380398|DC:0000323|MESH:D009477|NCIT:C125386|OMIMPS:162400|Orphanet:140471|ICD10:G60.8|ICD9:356.2 An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. NCIT:C125386|SNOMEDCT:11442006|ORPHA:140471|UMLS:C0027889|MESH:D009477|DOID:0050548 http://purl.obolibrary.org/obo/MONDO_0015364 CIP|congenital pain insensitivity|congenital insensitivity to pain|HSAN|hereditary sensory peripheral neuropathy|indifference to pain, Congenital, autosomal recessive|hereditary sensory and autonomic neuropathy|hereditary sensory autonomic neuropathy|indifference to pain, Congenital, autosomal recessive|hereditary sensory neuropathy ordo_group_of_disorders GO:0034284 response to monosaccharide biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide stimulus MONDO:0015363 autosomal recessive distal hereditary motor neuropathy biolink:Disease mondo Orphanet:140468|ICD10:G12.2|UMLS:CN228931 Autosomal recessive form of distal hereditary motor neuropathy. UMLS:CN228931|ORPHA:140468 http://purl.obolibrary.org/obo/MONDO_0015363 autosomal recessive distal spinal muscular atrophy|autosomal recessive dHMN|distal hereditary motor neuropathy, autosomal recessive|autosomal recessive dSMA ordo_group_of_disorders SO:1000037 chromosomal_duplication biolink:SequenceFeature mondo An extra chromosome. http://purl.obolibrary.org/obo/SO_1000037 (Drosophila)Dp|(fungi)Dp|chromosomal duplication MONDO:0003366 hydrarthrosis biolink:Disease mondo ICD9:719.08|ICD9:719.00|MESH:D006833|DOID:528|SCTID:387637008 Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed) MESH:D006833|SNOMEDCT:387637008|DOID:528 http://purl.obolibrary.org/obo/MONDO_0003366 MONDO:0003367 gastric leiomyosarcoma (disease) biolink:Disease mondo HP:0031025|SCTID:447785000|NCIT:C27200|DOID:5280|UMLS:C0744295 An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells. SNOMEDCT:447785000|NCIT:C27200|UMLS:C0744295|DOID:5280 http://purl.obolibrary.org/obo/MONDO_0003367 gastric leiomyosarcoma|leiomyosarcoma of stomach|stomach leiomyosarcoma MONDO:0003368 prostate leiomyosarcoma biolink:Disease mondo DOID:5282|NCIT:C5526|UMLS:C1335511 An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5526|UMLS:C1335511|DOID:5282 http://purl.obolibrary.org/obo/MONDO_0003368 leiomyosarcoma of prostate gland|prostate gland leiomyosarcoma|leiomyosarcoma of the prostate|leiomyosarcoma of prostate|prostate leiomyosarcoma MONDO:0003369 vagina leiomyosarcoma biolink:Disease mondo NCIT:C6326|DOID:5283|UMLS:C1336940 An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C6326|UMLS:C1336940|DOID:5283 http://purl.obolibrary.org/obo/MONDO_0003369 vagina leiomyosarcoma|vaginal leiomyosarcoma|leiomyosarcoma of the vagina|leiomyosarcoma of vagina MONDO:0003362 cutaneous leiomyosarcoma (disease) biolink:Disease mondo NCIT:C4484|HP:0006755|DOID:5273|UMLS:C0346067|SCTID:254771006 An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C4484|UMLS:C0346067|DOID:5273|SNOMEDCT:254771006 http://purl.obolibrary.org/obo/MONDO_0003362 leiomyosarcoma of zone of skin|leiomyosarcoma of the skin|cutaneous leiomyosarcoma|leiomyosarcoma of skin|zone of skin leiomyosarcoma|skin leiomyosarcoma MONDO:0003363 malignant dermis tumor biolink:Disease mondo DOID:5274|SCTID:255096006|UMLS:C0346811|NCIT:C4574 A malignant neoplasm involving the dermis. SNOMEDCT:255096006|NCIT:C4574|UMLS:C0346811|DOID:5274 http://purl.obolibrary.org/obo/MONDO_0003363 malignant dermis neoplasm|malignant dermal neoplasm|malignant tumor of dermis|cancer of dermis|malignant tumor of the dermis|malignant neoplasm of dermis|malignant dermis tumor|malignant neoplasm of the dermis|dermis cancer MONDO:0003364 gallbladder leiomyosarcoma biolink:Disease mondo NCIT:C5841|DOID:5275|UMLS:C1333746 An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5841|UMLS:C1333746|DOID:5275 http://purl.obolibrary.org/obo/MONDO_0003364 leiomyosarcoma of gallbladder|leiomyosarcoma of gall bladder|gall bladder leiomyosarcoma|leiomyosarcoma of the gallbladder|gallbladder leiomyosarcoma MONDO:0003365 esophagus leiomyosarcoma biolink:Disease mondo DOID:5276|NCIT:C5334|UMLS:C1333454 An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5334|UMLS:C1333454|DOID:5276 http://purl.obolibrary.org/obo/MONDO_0003365 esophageal leiomyosarcoma|leiomyosarcoma of esophagus|esophagus leiomyosarcoma|leiomyosarcoma of the esophagus GO:1900132 positive regulation of lipid binding biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of lipid binding. http://purl.obolibrary.org/obo/GO_1900132 upregulation of lipid binding|up-regulation of lipid binding|up regulation of lipid binding|activation of lipid binding NCBITaxon:12939 Anemia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_12939 Mohria|Anemia, the fern with tired blood GO:1900131 negative regulation of lipid binding biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of lipid binding. http://purl.obolibrary.org/obo/GO_1900131 down-regulation of lipid binding|down regulation of lipid binding|inhibition of lipid binding|downregulation of lipid binding MONDO:0003360 small intestine leiomyosarcoma biolink:Disease mondo Orphanet:104076|ICD10:C17.8|DOID:5271|UMLS:C0920305|NCIT:C7085|ICD10:C17.3|ICD10:C17.2|ICD10:C17.1|ICD10:C17.0|SCTID:716651004 An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells. DOID:5271|UMLS:C0920305|NCIT:C7085|ORPHA:104076|SNOMEDCT:716651004 http://purl.obolibrary.org/obo/MONDO_0003360 smooth muscle connective tissue tumor|small bowel leiomyosarcoma|leiomyosarcoma of the small intestine|small intestine leiomyosarcoma|leiomyosarcoma of the small bowel|leiomyosarcoma of small intestine|small intestinal leiomyosarcoma|leiomyosarcoma of small bowel ordo_disease MONDO:0003361 small intestinal sarcoma biolink:Disease mondo DOID:5272|UMLS:C1336007|NCIT:C5335 A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma. UMLS:C1336007|NCIT:C5335|DOID:5272 http://purl.obolibrary.org/obo/MONDO_0003361 sarcoma of the small bowel|small bowel sarcoma|small intestine sarcoma|sarcoma of small bowel|sarcoma of the small intestine|sarcoma, small intestinal|sarcoma of small intestine|small intestinal sarcoma MONDO:0015359 autosomal dominant hereditary demyelinating motor and sensory neuropathy biolink:Disease mondo UMLS:CN228926|ICD10:G60.0|Orphanet:140453 UMLS:CN228926|ORPHA:140453 http://purl.obolibrary.org/obo/MONDO_0015359 AD demyelinating HMSN ordo_group_of_disorders MONDO:0015358 hereditary motor and sensory neuropathy biolink:Disease mondo Orphanet:140450|MESH:D015417|COHD:4134552|ICD10:G60.0|GARD:0012685|SCTID:398100001 A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) MESH:D015417|SNOMEDCT:398100001|ORPHA:140450|UMLS:C0027888 http://purl.obolibrary.org/obo/MONDO_0015358 HMSN ordo_group_of_disorders MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion biolink:Disease mondo UMLS:CN242104|ICD10:E20.8|Orphanet:140286 ORPHA:140286|UMLS:CN242104 http://purl.obolibrary.org/obo/MONDO_0015357 ordo_disease MONDO:0015356 hereditary neoplastic syndrome biolink:Disease mondo Orphanet:140162|MESH:D009386|SCTID:699346009|UMLS:CN199448|UMLS:C0027672|NCIT:C3266|UMLS:CN882908 The inherited predisposition toward getting a tumor. UMLS:CN199448|NCIT:C3266|UMLS:CN882908|ORPHA:140162|UMLS:C0027672|MESH:D009386|SNOMEDCT:699346009 http://purl.obolibrary.org/obo/MONDO_0015356 familial tumor syndrome|hereditary cancer syndrome|syndrome, hereditary neoplastic|hereditary cancer syndromes|syndromes, hereditary neoplastic|neoplastic syndrome, hereditary|hereditary neoplastic syndrome|inherited cancer syndrome|syndrome, hereditary cancer|syndromes, hereditary cancer|hereditary neoplastic syndromes|hereditary tumor syndrome|familial neoplastic syndrome|cancer syndromes, hereditary|cancer syndrome, hereditary|inherited cancer-predisposing syndrome ordo_group_of_disorders|predisposition HGNC:17646 NGLY1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17646 MONDO:0015351 neuropathy with hearing impairment biolink:Disease mondo SCTID:723497003|UMLS:CN199414|ICD10:G60.8|Orphanet:139512 This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. ORPHA:139512|SNOMEDCT:723497003|UMLS:CN199414 http://purl.obolibrary.org/obo/MONDO_0015351 ordo_disease MONDO:0015350 17q11.2 microduplication syndrome biolink:Disease mondo UMLS:CN199408|ICD10:Q92.3|Orphanet:139474|UMLS:C4304642|SCTID:719583002 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. ORPHA:139474|SNOMEDCT:719583002|UMLS:C4304642|UMLS:CN199408 http://purl.obolibrary.org/obo/MONDO_0015350 Grisart-Destrée syndrome|trisomy 17q11.2|dup(17)(q11.2)|Grisart-Destree syndrome ordo_malformation_syndrome HGNC:17642 DCLRE1C biolink:OntologyClass mondo http://identifiers.org/hgnc/17642 MONDO:0015355 distal hereditary motor neuropathy type 7 biolink:Disease mondo Orphanet:139589|UMLS:CN199425|ICD10:G12.2 Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. UMLS:CN199425|ORPHA:139589 http://purl.obolibrary.org/obo/MONDO_0015355 distal spinal muscular atrophy with vocal cord paralysis|dHMN7 ordo_disease MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay biolink:Disease mondo UMLS:CN226662|SCTID:717826009|Orphanet:139573|UMLS:C4303566|ICD10:G60.8 This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. ORPHA:139573|SNOMEDCT:717826009|UMLS:CN226662|UMLS:C4303566 http://purl.obolibrary.org/obo/MONDO_0015354 HSAN with deafness and global delay ordo_disease MONDO:0015353 neuronopathy, distal hereditary motor, type 5A biolink:Disease mondo OMIM:600794|Orphanet:139536|UMLS:C1833308|ICD10:G12.2 ORPHA:139536|UMLS:C1833308|http://identifiers.org/omim/600794 http://purl.obolibrary.org/obo/MONDO_0015353 neuropathy, distal hereditary motor, type 5A|spinal muscular atrophy, distal, type 5|distal spinal muscular atrophy type 5|neuronopathy, distal hereditary motor, type 5A|dHMN 5A|spinal muscular atrophy, distal, with upper limb predominance|neuronopathy, distal hereditary motor, type VA|spinal muscular atrophy, distal, type 5A|neuronopathy, distal hereditary motor, type VA; HMN5A|distal hereditary motor neuropathy type V|neuronopathy, distal hereditary motor, type 5|HMN 5A|HMN5A|dHMN5|distal HMN V ordo_disease MONDO:0015352 distal hereditary motor neuropathy type 2 biolink:Disease mondo MESH:C580044|ICD10:G12.2|Orphanet:139525 ORPHA:139525|MESH:C580044 http://purl.obolibrary.org/obo/MONDO_0015352 dHMN2|distal spinal muscular atrophy type 2|dSMA2 ordo_disease HGNC:30605 SEPSECS biolink:OntologyClass mondo http://identifiers.org/hgnc/30605 MONDO:0003377 extrahepatic bile duct leiomyosarcoma biolink:Disease mondo UMLS:C1333508|NCIT:C5848|DOID:5293 An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5848|UMLS:C1333508|DOID:5293 http://purl.obolibrary.org/obo/MONDO_0003377 leiomyosarcoma of extrahepatic bile duct|leiomyosarcoma of the extrahepatic bile duct|leiomyosarcoma of bile duct|extrahepatic bile duct leiomyosarcoma|bile duct leiomyosarcoma|leiomyosarcoma of the bile duct MONDO:0003378 liver leiomyosarcoma biolink:Disease mondo UMLS:C1333969|DOID:5296|NCIT:C5756 An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5756|DOID:5296|UMLS:C1333969 http://purl.obolibrary.org/obo/MONDO_0003378 leiomyosarcoma of the liver|liver leiomyosarcoma|hepatic leiomyosarcoma|leiomyosarcoma of liver MONDO:0003379 rectum leiomyosarcoma biolink:Disease mondo DOID:5297|UMLS:C1335683|NCIT:C5549 An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5549|UMLS:C1335683|DOID:5297 http://purl.obolibrary.org/obo/MONDO_0003379 rectum leiomyosarcoma|leiomyosarcoma of the rectum|rectal leiomyosarcoma|leiomyosarcoma of rectum SO:1000029 chromosomal_deletion biolink:SequenceFeature mondo An incomplete chromosome. http://purl.obolibrary.org/obo/SO_1000029 (bacteria)&Dgr;|(fungi)D|deficiency|chromosomal deletion|(Drosophila)Df SO:1000028 intrachromosomal_mutation biolink:SequenceFeature mondo A chromosomal structure variation within a single chromosome. http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal mutation MONDO:0003373 kidney leiomyosarcoma biolink:Disease mondo UMLS:C1335743|DOID:5287|NCIT:C6183 An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells. UMLS:C1335743|DOID:5287|NCIT:C6183 http://purl.obolibrary.org/obo/MONDO_0003373 leiomyosarcoma of the kidney|leiomyosarcoma of kidney|kidney leiomyosarcoma|renal leiomyosarcoma MONDO:0003374 laryngeal leiomyosarcoma biolink:Disease mondo DOID:5288|UMLS:C1334371|NCIT:C6022 An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells. UMLS:C1334371|DOID:5288|NCIT:C6022 http://purl.obolibrary.org/obo/MONDO_0003374 leiomyosarcoma of larynx|laryngeal leiomyosarcoma|larynx leiomyosarcoma|leiomyosarcoma of the larynx MONDO:0003375 obsolete uterus leiomyosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003375 uterus leiomyosarcoma|leiomyosarcoma of corpus uteri HGNC:29634 MEGF10 biolink:OntologyClass mondo http://identifiers.org/hgnc/29634 MONDO:0003376 mediastinum leiomyosarcoma biolink:Disease mondo UMLS:C1334660|NCIT:C6619|DOID:5292 An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C6619|UMLS:C1334660|DOID:5292 http://purl.obolibrary.org/obo/MONDO_0003376 mediastinal leiomyosarcoma|leiomyosarcoma of the mediastinum|mediastinum leiomyosarcoma|leiomyosarcoma of mediastinum MONDO:0003370 retroperitoneal leiomyosarcoma biolink:Disease mondo DOID:5284|NCIT:C27904|UMLS:C2187547 An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C27904|DOID:5284|UMLS:C2187547 http://purl.obolibrary.org/obo/MONDO_0003370 retroperitoneal space leiomyosarcoma|leiomyosarcoma of retroperitoneal space|retroperitoneal leiomyosarcoma MONDO:0003371 breast leiomyosarcoma biolink:Disease mondo UMLS:C1332631|DOID:5285|NCIT:C5186 An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells. DOID:5285|UMLS:C1332631|NCIT:C5186 http://purl.obolibrary.org/obo/MONDO_0003371 breast leiomyosarcoma|leiomyosarcoma of breast|leiomyosarcoma of the breast MONDO:0003372 vulvar leiomyosarcoma biolink:Disease mondo DOID:5286|NCIT:C40318|EFO:1001975|UMLS:C2168304 An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells. UMLS:C2168304|NCIT:C40318|DOID:5286 http://purl.obolibrary.org/obo/MONDO_0003372 leiomyosarcoma of mammalian vulva|mammalian vulva leiomyosarcoma MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts biolink:Disease mondo ICD10:E75.2|Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested. ORPHA:139444 http://purl.obolibrary.org/obo/MONDO_0015348 ordo_disease MONDO:0015347 multicentric reticulohistiocytosis biolink:Disease mondo SCTID:84241008|DOID:11824|ICD10:E78.81|MedDRA:10070595|ICD9:713.0|UMLS:C0311284|GARD:0007103|ICD9:272.8|NCIT:C27896|Orphanet:139436|ICD10:D76.3 Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis. UMLS:C0311284|SNOMEDCT:84241008|ORPHA:139436|NCIT:C27896|DOID:11824|MEDDRA:10070595 http://purl.obolibrary.org/obo/MONDO_0015347 multicentric reticulohistiocytosis|lipoid dermatoarthritis|giant cell histiocytomatosis ordo_disease|gard_rare MONDO:0015346 Jeavons syndrome biolink:Disease mondo SCTID:716278005|UMLS:C4274731|ICD10:G40.3|Orphanet:139431|UMLS:CN199399 Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. UMLS:CN199399|SNOMEDCT:716278005|ORPHA:139431|UMLS:C4274731 http://purl.obolibrary.org/obo/MONDO_0015346 eyelid myoclonia with and without absences|EMEA|epilepsy with eyelid myoclonias ordo_disease MONDO:0015345 perioral myoclonia with absences biolink:Disease mondo Orphanet:139426|SCTID:766815007 Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. ORPHA:139426|SNOMEDCT:766815007 http://purl.obolibrary.org/obo/MONDO_0015345 POMA ordo_disease MONDO:0015349 progressive cavitating leukoencephalopathy biolink:Disease mondo SCTID:719267003|Orphanet:139447|ICD10:E75.2|UMLS:C4304840 Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. UMLS:C4304840|SNOMEDCT:719267003|ORPHA:139447 http://purl.obolibrary.org/obo/MONDO_0015349 ordo_disease MONDO:0015340 drug rash with eosinophilia and systemic symptoms biolink:Disease mondo Orphanet:139402|SCTID:702809001|MESH:D063926|MedDRA:10058919 DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. UMLS:C1142139|MEDDRA:10058919|ORPHA:139402|MESH:D063926|SNOMEDCT:702809001 http://purl.obolibrary.org/obo/MONDO_0015340 dress syndrome|drug reaction eosinophilic systemic syndrome ordo_disease HGNC:30611 STT3B biolink:OntologyClass mondo http://identifiers.org/hgnc/30611 HGNC:17655 GREM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17655 MONDO:0015344 idiopathic acute transverse myelitis biolink:Disease mondo ICD10:G37.3|Orphanet:139423 Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement. ORPHA:139423 http://purl.obolibrary.org/obo/MONDO_0015344 ATM/TM ordo_clinical_subtype MONDO:0015343 secondary acute transverse myelitis biolink:Disease mondo Orphanet:139420|ICD10:G37.3|UMLS:CN199396 Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease. UMLS:CN199396|ORPHA:139420 http://purl.obolibrary.org/obo/MONDO_0015343 disease-associated transverse myelitis ordo_clinical_subtype MONDO:0015342 acute transverse myelitis biolink:Disease mondo MESH:D009188|SCTID:47000000|ICD9:341.20|ICD10:G37.3|Orphanet:139417|NCIT:C128378|COHD:139803|ICD9:323.9|UMLS:C0270627 Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM). ORPHA:139417|SNOMEDCT:47000000|MESH:D009188|UMLS:C0270627|NCIT:C128378 http://purl.obolibrary.org/obo/MONDO_0015342 ordo_disease HGNC:17652 PORCN biolink:OntologyClass mondo http://identifiers.org/hgnc/17652 MONDO:0015341 congenital panfollicular nevus (disease) biolink:Disease mondo Orphanet:139414|HP:0025471 Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. ORPHA:139414 http://purl.obolibrary.org/obo/MONDO_0015341 congenital panfollicular nevus ordo_disease NCBITaxon:10335 Human alphaherpesvirus 3 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10335 VZV|varicella zoster virus VZV|Varicella-zoster virus|Human herpesvirus 3|Varicella Zoster Virus|varicella-zoster virus VZV|Human herpes virus 3|HHV-3 HGNC:29605 SH2B3 biolink:OntologyClass mondo http://identifiers.org/hgnc/29605 GO:0034255 regulation of urea metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea. http://purl.obolibrary.org/obo/GO_0034255 regulation of urea metabolism GO:0034250 positive regulation of cellular amide metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides. http://purl.obolibrary.org/obo/GO_0034250 positive regulation of amide metabolism MONDO:0042960 Sackey-Sakati-Aur syndrome biolink:Disease mondo GARD:0000315|MESH:C537219|UMLS:C2931442 MESH:C537219|UMLS:C2931442 http://purl.obolibrary.org/obo/MONDO_0042960 multiple dysmorphic features and pancytopenia|Aur syndrome|pancytopenia multiple congenital anomalies|Sackey Sakati Aur syndrome gard_rare MONDO:0042961 sacral hemangiomas multiple congenital abnormalities biolink:Disease mondo GARD:0000317|UMLS:C2931443|MESH:C537222 MESH:C537222|UMLS:C2931443 http://purl.obolibrary.org/obo/MONDO_0042961 gard_rare MONDO:0042962 Slti-Salem syndrome biolink:Disease mondo UMLS:C2931284|GARD:0000324|MEDGEN:419036|MESH:C536673 MESH:C536673|UMLS:C2931284 http://purl.obolibrary.org/obo/MONDO_0042962 hypogonadism and frontoparietal alopecia|hypogonadotropic hypogonadism alopecia|Slti Salem syndrome gard_rare MONDO:0042956 Saal-Bulas syndrome biolink:Disease mondo UMLS:C2931439|MESH:C537193|GARD:0000311 UMLS:C2931439|MESH:C537193 http://purl.obolibrary.org/obo/MONDO_0042956 Saal Bulas syndrome|ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum gard_rare GO:0034248 regulation of cellular amide metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides. http://purl.obolibrary.org/obo/GO_0034248 regulation of amide metabolism GO:0034249 negative regulation of cellular amide metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides. http://purl.obolibrary.org/obo/GO_0034249 negative regulation of amide metabolism MONDO:0015391 nasopharyngeal teratoma biolink:Disease mondo UMLS:C4531264|ICD10:D10.6|Orphanet:141107 A teratoma that involves the nasopharynx. UMLS:C4531264|ORPHA:141107 http://purl.obolibrary.org/obo/MONDO_0015391 teratoma of the nasopharynx|nasopharynx teratoma ordo_clinical_subtype MONDO:0015390 proboscis lateralis biolink:Disease mondo SCTID:715828006|Orphanet:141099|UMLS:C4274985|ICD10:Q30.8 Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly. UMLS:C4274985|SNOMEDCT:715828006|ORPHA:141099 http://purl.obolibrary.org/obo/MONDO_0015390 congenital tubular nose ordo_malformation_syndrome MONDO:0042970 disorder of glutamate decarboxylase biolink:Disease mondo GARD:0002505|UMLS:C1291560|ICD9:277.6|MEDGEN:452941|GTR:AN0168165|GTR:AN0264281|SCTID:124596009 A disease that has its basis in the disruption of glutamate decarboxylase activity. SNOMEDCT:124596009|UMLS:C1291560 http://purl.obolibrary.org/obo/MONDO_0042970 glutamate decarboxylase deficiency|glutamate decarboxylase activity disease|deficiency of glutamate decarboxylase|disorder of glutamate decarboxylase activity|disorder of glutamate decarboxylase activity gard_rare MONDO:0042971 congenital herpes virus infection biolink:Disease mondo SCTID:715337002|UMLS:C4275250|GARD:0002669|GARD:0002670 An infectious embryofetopathy caused by infection with Herpesviridae. UMLS:C4275250|SNOMEDCT:715337002 http://purl.obolibrary.org/obo/MONDO_0042971 congenital herpes virus infection|congenital infection caused by herpes virus|Herpesviridae infectious embryofetopathy|Herpesviridae caused infectious embryofetopathy gard_rare MONDO:0042972 meningococcemia biolink:Disease mondo UMLS:C0025306|SCTID:4089001|ICD9:036.2|GARD:0003472|MEDGEN:6300 SNOMEDCT:4089001|UMLS:C0025306 http://purl.obolibrary.org/obo/MONDO_0042972 meningococcal septicemia|meningococcemia gard_rare MONDO:0042973 familial osteosclerosis biolink:Disease mondo GARD:0004174 An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0042973 hereditary osteosclerosis gard_rare NCBITaxon:10319 Varicellovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10319 MONDO:0042967 rheumatic disease of mitral valve biolink:Disease mondo UMLS:C0264765|SCTID:83898004 A rheumatologic disorder that involves the mitral valve. UMLS:C0264765|SNOMEDCT:83898004 http://purl.obolibrary.org/obo/MONDO_0042967 rheumatic mitral valve disease|rheumatologic disorder of mitral valve|mitral valve rheumatologic disorder|rheumatic mitral valve changes|rheumatic disease of mitral valve MONDO:0042968 partial duplication of chromosome 12 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0042968 MONDO:0042969 partial duplication of the long arm of chromosome 12 biolink:Disease mondo MESH:C538300|GARD:0001926|UMLS:C0795846 Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. MESH:C538300|UMLS:C0795846 http://purl.obolibrary.org/obo/MONDO_0042969 chromosome 12q duplication|partial trisomy 12q|12q trisomy|trisomy 12q|Duplication 12q|12q duplication gard_rare MONDO:0042963 wandering spleen biolink:Disease mondo NCIT:C85224|GARD:0000328|MESH:D050805|MEDGEN:75782|SCTID:191384005|UMLS:C0272414 A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly. MESH:D050805|UMLS:C0272414|SNOMEDCT:191384005|NCIT:C85224 http://purl.obolibrary.org/obo/MONDO_0042963 splenic Ptoses|displaced spleen|spleens, displaced|spleen, wandering|spleens, drifting|splenic ptosis|displaced spleens|spleens, floating|spleens, wandering|drifting spleens|Splenoptoses|ptosis, splenic|spleen, drifting|floating spleens|wandering spleen|wandering spleens|floating spleen|spleen, floating|splenoptosis|Ptoses, splenic|spleen, displaced|drifting spleen MONDO:0042964 Machado-Joseph disease type 4 biolink:Disease mondo SCTID:91956006|ICD9:334.3|UMLS:C0686352 A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment. SNOMEDCT:91956006|UMLS:C0686352 http://purl.obolibrary.org/obo/MONDO_0042964 azorean disease, type iv MONDO:0042965 Machado-Joseph disease type 5 biolink:Disease mondo ICD9:334.3 A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia. http://purl.obolibrary.org/obo/MONDO_0042965 azorean disease, type V MONDO:0042966 inherited mitral valve disease biolink:Disease mondo SCTID:75372006 An instance of mitral valve disease that is caused by an inherited modification of the individual's genome. SNOMEDCT:75372006 http://purl.obolibrary.org/obo/MONDO_0042966 hereditary mitral valve disease|congenital anomaly of mitral valve|congenital mitral valve abnormality|congenital malformation of mitral valve MONDO:0015395 congenital subglottic stenosis biolink:Disease mondo SCTID:204552001|ICD10:Q31.1|ICD9:748.3|Orphanet:141121 UMLS:C0396051|SNOMEDCT:204552001|ORPHA:141121 http://purl.obolibrary.org/obo/MONDO_0015395 ordo_malformation_syndrome MONDO:0015394 nasal encephalocele biolink:Disease mondo SCTID:65455002|ICD10:Q01.1|Orphanet:141118 Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases. UMLS:C0014066|SNOMEDCT:65455002|ORPHA:141118 http://purl.obolibrary.org/obo/MONDO_0015394 ordo_clinical_subtype MONDO:0015393 nasal ganglioglioma biolink:Disease mondo Orphanet:141115 Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction. ORPHA:141115 http://purl.obolibrary.org/obo/MONDO_0015393 ordo_clinical_subtype MONDO:0015392 nasal glial heterotopia biolink:Disease mondo Orphanet:141112|UMLS:C0266490|ICD9:748.1|SCTID:5645008 Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported. UMLS:C0266490|SNOMEDCT:5645008|ORPHA:141112 http://purl.obolibrary.org/obo/MONDO_0015392 nasal glioma ordo_disease MONDO:0015399 glossopalatine ankylosis biolink:Disease mondo SCTID:717814004|UMLS:CN199497|ICD10:Q38.3|Orphanet:141163|UMLS:C4303569 Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. ORPHA:141163|UMLS:C4303569|UMLS:CN199497|SNOMEDCT:717814004 http://purl.obolibrary.org/obo/MONDO_0015399 Cosack syndrome ordo_malformation_syndrome MONDO:0015398 hemifacial microsomia biolink:Disease mondo ICD10:Q75.8|SCTID:109393007|Orphanet:141136|UMLS:CN199493|GARD:0006582 ORPHA:141136|UMLS:CN199493|SNOMEDCT:109393007 http://purl.obolibrary.org/obo/MONDO_0015398 first branchial arch syndrome|otomandibular syndrome|otomandibular dysostosis|Laterofacial microsomia ordo_malformation_syndrome MONDO:0015397 oculo-auriculo-vertebral spectrum biolink:Disease mondo Orphanet:141132|GARD:0012074 ORPHA:141132 http://purl.obolibrary.org/obo/MONDO_0015397 OAVD|oculo-auriculo-vertebral dysplasia|OAV spectrum|unilateral or bilateral and asymmetric otomandibular dysplasia ordo_group_of_disorders|gard_rare MONDO:0015396 congenital laryngeal cyst biolink:Disease mondo Orphanet:141124|UMLS:C0339880|SCTID:765763007|ICD10:Q31.8 Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia. ORPHA:141124|SNOMEDCT:765763007|UMLS:C0339880 http://purl.obolibrary.org/obo/MONDO_0015396 ordo_malformation_syndrome GO:0071295 cellular response to vitamin biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. http://purl.obolibrary.org/obo/GO_0071295 MONDO:0015380 facial dermoid cyst biolink:Disease mondo ICD10:Q18.8|SCTID:763220008|Orphanet:141051 Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area. SNOMEDCT:763220008|ORPHA:141051 http://purl.obolibrary.org/obo/MONDO_0015380 dermoid cyst of the face ordo_morphological_anomaly MONDO:0042981 aortic valve stenosis biolink:Disease mondo SCTID:60573004|GARD:0005830|HP:0001650 SNOMEDCT:60573004 http://purl.obolibrary.org/obo/MONDO_0042981 aortic valve stenosis|aortic stenosis|stenosed aortic valve|valvular aortic stenosis gard_rare MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML biolink:Disease mondo GARD:0013373|NCIT:C126349 A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]). NCIT:C126349 http://purl.obolibrary.org/obo/MONDO_0042982 GATA2 deficiency/MonoMac syndrome|GATA2 deficiency predisposition|gard_rare MONDO:0042983 neurocutaneous syndrome biolink:Disease mondo NCIT:C84348|SCTID:78572006|UMLS:C0265316|MESH:D020752 A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. UMLS:C0265316|SNOMEDCT:78572006|NCIT:C84348|MESH:D020752 http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous disorder|syndromes, neurocutaneous|neuroectodermal dysplasia syndrome|neuroectodermal dysplasia syndromes|syndrome, neurocutaneous|phakomatosis|neurocutaneous disorders|Phacomatoses|syndrome, neuroectodermal dysplasia|neuroectodermal dysplasia|syndromes, neuroectodermal dysplasia|Phacomatosis|neurocutaneous syndrome|Phakomatoses GO:0009295 nucleoid biolink:OntologyClass mondo The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined. http://purl.obolibrary.org/obo/GO_0009295 MONDO:0042980 Westphal disease biolink:Disease mondo UMLS:C1279186|SCTID:182747006|GTR:AN0099345|GTR:AN0099344|GARD:0005557|GTR:AN0099343|MEDGEN:224821|MESH:C536694 UMLS:C1279186|MESH:C536694|SNOMEDCT:182747006 http://purl.obolibrary.org/obo/MONDO_0042980 HD- Westphal variant|Westphal variant of Huntington's disease|Westphal disease gard_rare GO:0034220 ion transmembrane transport biolink:OntologyClass mondo A process in which an ion is transported across a membrane. http://purl.obolibrary.org/obo/GO_0034220 ATP hydrolysis coupled ion transmembrane transport|ion membrane transport|transmembrane ion transport MONDO:0042978 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0042978 MONDO:0042979 hypokalemic periodic paralysis, type 1 biolink:Disease mondo UMLS:C3714580|OMIM:170400 UMLS:C3714580|http://identifiers.org/omim/170400 http://purl.obolibrary.org/obo/MONDO_0042979 HOKPP1|hypokalemic periodic paralysis, type 1; HOKPP1 MONDO:0015389 supernumerary nostril biolink:Disease mondo HP:0009934|SCTID:719163006|ICD10:Q30.8|Orphanet:141096|UMLS:CN226671 Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. SNOMEDCT:719163006|ORPHA:141096|UMLS:CN226671 http://purl.obolibrary.org/obo/MONDO_0015389 accessory nostril|supernumerary naris ordo_malformation_syndrome HGNC:17619 NDE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17619 MONDO:0042974 parainfluenza virus type 3 infectious disease biolink:Disease mondo UMLS:C0276324|GARD:0004215|OMOP:4147524|SCTID:30270006|ICD9:079.89 Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections. SNOMEDCT:30270006|UMLS:C0276324 http://purl.obolibrary.org/obo/MONDO_0042974 human respirovirus 3 caused disease or disorder|human respirovirus 3 disease or disorder|infection caused by parainfluenza virus 3|human parainfluenza virus type 3|infection caused by human parainfluenza virus 3|PIV3|infection due to human parainfluenza virus 3|infection due to parainfluenza virus 3|human respirovirus 3 infectious disease gard_rare MONDO:0042975 pseudoachondroplastic dysplasia 2 biolink:Disease mondo MEDGEN:418965|MESH:C535820|GARD:0004542|UMLS:C2931030 MESH:C535820|UMLS:C2931030 http://purl.obolibrary.org/obo/MONDO_0042975 pseudoachondroplastic dysplasia 2|spondyloepiphyseal dysplasia pseudoachondroplastic 2|recessive pseudoachondroplasia gard_rare MONDO:0042976 vitamin B deficiency biolink:Disease mondo UMLS:C0042850|NCIT:C35129|SCTID:47903000|MESH:D014804 A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. NCIT:C35129|SNOMEDCT:47903000|MESH:D014804|UMLS:C0042850 http://purl.obolibrary.org/obo/MONDO_0042976 deficiencies, vitamin B|deficiency, vitamin B|vitamin B deficiencies HGNC:17616 IL17RD biolink:OntologyClass mondo http://identifiers.org/hgnc/17616 MONDO:0042977 trichoepithelioma, multiple familial, 1 biolink:Disease mondo GARD:0005262|OMIM:601606 http://identifiers.org/omim/601606 http://purl.obolibrary.org/obo/MONDO_0042977 multiple familial trichoepithelioma 1|trichoepithelioma multiple familial 1|Brooke-Fordyce Trichoepitheliomas|epithelioma adenoides cysticum of Brooke|epithelioma, hereditary multiple benign cystic|trichoepithelioma, multiple familial, 1|MFT1 gard_rare MONDO:0015384 digestive duplication cyst of the tongue biolink:Disease mondo ICD10:Q38.3|Orphanet:141071 Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus. ORPHA:141071 http://purl.obolibrary.org/obo/MONDO_0015384 gastric duplication cyst of the tongue|enteric duplication cyst of the tongue|foregut duplication cyst of the tongue|cysts and fistulae of the face and oral cavity of tongue|tongue cysts and fistulae of the face and oral cavity ordo_morphological_anomaly MONDO:0015383 cervicofacial fibrochondroma biolink:Disease mondo Orphanet:141067 ORPHA:141067 http://purl.obolibrary.org/obo/MONDO_0015383 cervicofacial enchondroma ordo_morphological_anomaly MONDO:0015382 lower lip fistula biolink:Disease mondo ICD10:Q38.0|Orphanet:141064 A cysts and fistulae of the face and oral cavity that involves the lower lip. ORPHA:141064 http://purl.obolibrary.org/obo/MONDO_0015382 lower lip cysts and fistulae of the face and oral cavity|cysts and fistulae of the face and oral cavity of lower lip ordo_morphological_anomaly MONDO:0015381 commissural lip fistula biolink:Disease mondo Orphanet:141061|ICD10:Q38.0 A cysts and fistulae of the face and oral cavity that involves the labial commissure. ORPHA:141061 http://purl.obolibrary.org/obo/MONDO_0015381 cysts and fistulae of the face and oral cavity of labial commissure|labial commissure cysts and fistulae of the face and oral cavity ordo_morphological_anomaly MONDO:0015388 polyrrhinia biolink:Disease mondo SCTID:716279002|Orphanet:141091|ICD10:Q30.8 Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. ORPHA:141091|SNOMEDCT:716279002 http://purl.obolibrary.org/obo/MONDO_0015388 Double nose|Polyrhinia ordo_malformation_syndrome MONDO:0015387 nasolacrimal duct cyst biolink:Disease mondo ICD10:H04.6|Orphanet:141083 Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females. ORPHA:141083 http://purl.obolibrary.org/obo/MONDO_0015387 dacryocystocele|dacryocele|nasolacrimal mucocele ordo_morphological_anomaly MONDO:0015386 epignathus (disease) biolink:Disease mondo HP:0030767|SCTID:31248004|Orphanet:141077|UMLS:C0266725|ICD10:D37.0 Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. ORPHA:141077|SNOMEDCT:31248004|UMLS:C0266725 http://purl.obolibrary.org/obo/MONDO_0015386 Epignathus|oropharyngeal teratoma ordo_clinical_subtype MONDO:0015385 external auditory canal aplasia/hypoplasia biolink:Disease mondo ICD10:Q16.1|Orphanet:141074 ORPHA:141074 http://purl.obolibrary.org/obo/MONDO_0015385 external auditory canal stenosis/atresia ordo_morphological_anomaly MONDO:0005967 splenic tuberculosis biolink:Disease mondo DOID:9305|EFO:0007492|ICD9:017.7|ICD10:A18.85|SCTID:28399005|MESH:D014400|UMLS:C0041331 Infection of the spleen with species of mycobacterium. MESH:D014400|SNOMEDCT:28399005|UMLS:C0041331|DOID:9305 http://purl.obolibrary.org/obo/MONDO_0005967 MONDO:0003304 plexiform neurofibroma (disease) biolink:Disease mondo UMLS:C0206728|EFO:0000658|DOID:5151|HP:0009732|SCTID:403818001|ICDO:9550/0|ICD9:215.9|NCIT:C3797|MESH:D018318 An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.) SNOMEDCT:403818001|NCIT:C3797|DOID:5151|UMLS:C0206728|MESH:D018318 http://purl.obolibrary.org/obo/MONDO_0003304 plexiform neurofibroma NCBITaxon:10374 Gammaherpesvirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesviruses|lymphoproliferative virus group MONDO:0005966 spleen cancer biolink:Disease mondo SCTID:127230005|NCIT:C3539|EFO:0007491|ICD10:C26.1|DOID:672|MESH:D013160 A malignant neoplasm involving the spleen NCIT:C3539|MESH:D013160|SNOMEDCT:127230005|DOID:672 http://purl.obolibrary.org/obo/MONDO_0005966 cancer of the spleen|malignant splenic tumor|malignant tumor of spleen|malignant splenic neoplasm|malignant tumor of the spleen|malignant neoplasm of spleen|cancer of spleen|malignant spleen neoplasm|malignant neoplasm of the spleen|splenic cancer|malignant tumour of spleen|spleen neoplasm|spleen cancer|splenic neoplasm MONDO:0030922 intellectual disability, autosomal dominant 56 biolink:Disease mondo OMIM:617854|UMLS:CN787270|DOID:0080226 DOID:0080226|http://identifiers.org/omim/617854|UMLS:CN787270 http://purl.obolibrary.org/obo/MONDO_0030922 autosomal dominant mental retardation 56|mental retardation, autosomal dominant 56|MRD56|mental retardation, autosomal dominant 56; MRD56|intellectual disability, autosomal dominant 56|intellectual disability, autosomal dominant 56; MRD56|autosomal dominant intellectual disability 56 MONDO:0003305 cellular neurofibroma biolink:Disease mondo NCIT:C41427|DOID:5152|UMLS:C1516371 A neurofibroma characterized by the presence of areas with increased cellularity. UMLS:C1516371|NCIT:C41427|DOID:5152 http://purl.obolibrary.org/obo/MONDO_0003305 cellular neurofibroma NCBITaxon:10375 Lymphocryptovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10375 MONDO:0005969 st. Louis encephalitis biolink:Disease mondo MedDRA:10041896|EFO:0007495|ICD9:062.3|UMLS:C0014060|ICD10:A83.3|DOID:10845|MESH:D004674|Orphanet:83484|SCTID:417607009 A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750) MESH:D004674|DOID:10845|UMLS:C0014060|MEDDRA:10041896|SNOMEDCT:417607009|ORPHA:83484 http://purl.obolibrary.org/obo/MONDO_0005969 Saint Louis encephalitis|Neuroinvasive St. Louis encephalitis virus infection|St. Louis encephalitis virus infectious encephalitis|St. Louis encephalitis virus caused infectious encephalitis ordo_disease NCBITaxon:10376 Human gammaherpesvirus 4 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10376 EPV|Epstein-Barr virus|Human herpesvirus type 4|Human herpesvirus 4|Epstein-Barr virus EBV|Epstein Barr virus|HHV-4 MONDO:0003306 atypical neurofibroma biolink:Disease mondo UMLS:C1510961|DOID:5153|NCIT:C41426 A neurofibroma characterized by the presence of cellular pleomorphism. UMLS:C1510961|NCIT:C41426|DOID:5153 http://purl.obolibrary.org/obo/MONDO_0003306 atypical neurofibroma GO:0048863 stem cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/GO_0048863 MONDO:0005968 sporotrichosis biolink:Disease mondo ICD10:B42.8|SCTID:42094007|UMLS:C0038034|ICD10:B42.9|ICD10:B42.7|MESH:D013174|EFO:0007494|GARD:0007692|Orphanet:826|COHD:434859|ICD10:B42|ICD10:B42.1|ICD10:B42.0|DOID:14484|MedDRA:10041736|ICD9:117.1 The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound. SNOMEDCT:42094007|MEDDRA:10041736|MESH:D013174|UMLS:C0038034|DOID:14484|ORPHA:826 http://purl.obolibrary.org/obo/MONDO_0005968 rose gardener's disease ordo_disease|gard_rare MONDO:0003307 multiple mucosal neuroma biolink:Disease mondo DOID:5155|UMLS:C1334828|NCIT:C6559 UMLS:C1334828|DOID:5155|NCIT:C6559 http://purl.obolibrary.org/obo/MONDO_0003307 multiple mucosal neuromas GO:0048864 stem cell development biolink:OntologyClass mondo The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. http://purl.obolibrary.org/obo/GO_0048864 MONDO:0003300 appendix leiomyoma biolink:Disease mondo UMLS:C1332327|NCIT:C5514|DOID:5146 A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. DOID:5146|UMLS:C1332327|NCIT:C5514 http://purl.obolibrary.org/obo/MONDO_0003300 appendix leiomyoma|leiomyoma of vermiform appendix|appendiceal leiomyoma|vermiform appendix leiomyoma|leiomyoma of appendix|leiomyoma of the appendix MONDO:0005963 sparganosis biolink:Disease mondo UMLS:C0037753|NCIT:C35030|MESH:D013031|ICD9:123.5|DOID:10080|SCTID:31659000|ICD10:B70.1|EFO:0007488 A condition resulting from infection with the second stage larvae of the parasite Spirometra. SNOMEDCT:31659000|NCIT:C35030|MESH:D013031|UMLS:C0037753|DOID:10080 http://purl.obolibrary.org/obo/MONDO_0005963 Spirometra infectious disease|Spirometra caused disease or disorder|sparganosis [larval diphyllobothriasis]|infection by sparganum|Spirometra disease or disorder MONDO:0005962 skeletal tuberculosis biolink:Disease mondo MESH:D014394|ICD10:A18.0|ICD9:015|EFO:0007487|DOID:1639|UMLS:C0041324|SCTID:17653001|ICD9:015.9 Tuberculosis of the bones or joints. MESH:D014394|UMLS:C0041324|SNOMEDCT:17653001|DOID:1639 http://purl.obolibrary.org/obo/MONDO_0005962 osteoarticular tuberculosis MONDO:0003301 dartoic leiomyoma biolink:Disease mondo NCIT:C4483|ICD9:215.9|DOID:5147|UMLS:C0346066|SCTID:254770007 A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora. NCIT:C4483|UMLS:C0346066|DOID:5147|SNOMEDCT:254770007 http://purl.obolibrary.org/obo/MONDO_0003301 dartos muscle leiomyoma|dartoic myoma|leiomyoma of dartos muscle|dartoic leiomyoma NCBITaxon:10379 Rhadinovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10379 MONDO:0003302 epithelioid neurofibroma biolink:Disease mondo NCIT:C6558|SCTID:404032008|ICD9:215.9|DOID:5149|UMLS:C1275264 A rare neurofibroma with epithelioid morphology. DOID:5149|SNOMEDCT:404032008|NCIT:C6558|UMLS:C1275264 http://purl.obolibrary.org/obo/MONDO_0003302 epithelioid neurofibroma MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures biolink:Disease mondo UMLS:CN757796|OMIM:617831|DOID:0080227 http://identifiers.org/omim/617831|UMLS:CN757796|DOID:0080227 http://purl.obolibrary.org/obo/MONDO_0030921 mental retardation, autosomal dominant 55, with seizures|intellectual disability, autosomal dominant 55, with seizures; MRD55|mental retardation, autosomal dominant 55, with seizures; MRD55|autosomal dominant mental retardation 55|MRD55|autosomal dominant intellectual disability 55|intellectual disability, autosomal dominant 55, with seizures MONDO:0005965 spinal stenosis biolink:Disease mondo SCTID:76107001|ICD9:724.09|MESH:D013130|EFO:0007490|ICD10:M48.06|ICD9:724.00|HP:0003416|ICD10:M48.0|ICD10:M48.02|COHD:77079|DOID:6725|ICD9:723.0|ICD10:M48.00 Narrowing of the spinal canal. DOID:6725|MESH:D013130|SNOMEDCT:76107001 http://purl.obolibrary.org/obo/MONDO_0005965 cervical spinal stenosis|spinal stenosis of lumbar region|lumbar spinal stenosis MONDO:0003303 neurofibroma of gallbladder biolink:Disease mondo DOID:5150|UMLS:C1333751|NCIT:C5746 A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. NCIT:C5746|DOID:5150|UMLS:C1333751 http://purl.obolibrary.org/obo/MONDO_0003303 neurofibroma of the gallbladder|neurofibroma of gallbladder|gallbladder neurofibroma|neurofibroma of gall bladder|gall bladder neurofibroma MONDO:0005964 sphenoid sinusitis biolink:Disease mondo ICD10:J32.3|MESH:D015524|NCIT:C35031|EFO:0007489|DOID:10794|SCTID:13266007|UMLS:C0037886 An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus. DOID:10794|MESH:D015524|NCIT:C35031|UMLS:C0037886|SNOMEDCT:13266007 http://purl.obolibrary.org/obo/MONDO_0005964 sphenoidal sinusitis|sphenoid bone sinusitis|sinusitis of sphenoid bone MONDO:0030920 intellectual disability, autosomal dominant 54 biolink:Disease mondo OMIM:617799|DOID:0080230|EFO:0009164 http://identifiers.org/omim/617799|DOID:0080230 http://purl.obolibrary.org/obo/MONDO_0030920 autosomal dominant mental retardation 54|autosomal dominant intellectual disability 54|mental retardation, autosomal dominant 54; MRD54|mental retardation, autosomal dominant 54|intellectual disability, autosomal dominant 54; MRD54|MRD54|intellectual disability, autosomal dominant 54 UBERON:0012167 buccal fat pad biolink:AnatomicalEntity mondo The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls. http://purl.obolibrary.org/obo/UBERON_0012167 Bichat's fat pad|cheek fat pad MONDO:0005961 sinusitis biolink:Disease mondo ICD10:J01|MESH:D012852|NCIT:C35024|ICD10:J01.9|ICD9:461|DOID:0050127|SCTID:36971009|ICD9:461.9|EFO:0007486|UMLS:C0037199|ICD10:J01.90 An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. SNOMEDCT:36971009|NCIT:C35024|DOID:0050127|UMLS:C0037199|MESH:D012852 http://purl.obolibrary.org/obo/MONDO_0005961 MONDO:0005960 silicosis biolink:Disease mondo ICD10:J62|MESH:D012829|GARD:0007647|ICD10:J62.8|SCTID:805002|ICD9:502|UMLS:C0037116|DOID:10325|NCIT:C3369|EFO:0007485 Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition. UMLS:C0037116|SNOMEDCT:805002|MESH:D012829|DOID:10325|NCIT:C3369 http://purl.obolibrary.org/obo/MONDO_0005960 nodular silicosis|silica pneumoconiosis|pneumoconiosis due to silicates|experimental silicosis|pneumoconiosis due to silica|accelerated silicosis|silicosis|chronic silicosis|silicotuberculosis|silicatosis|acute silicosis|silicotic fibrosis of lung|pneumoconiosis caused by silica gard_rare MONDO:0017949 ABeta amyloidosis, Arctic type biolink:Disease mondo ICD10:E85.4+|ICD10:I68.0*|Orphanet:324723 Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages. ORPHA:324723 http://purl.obolibrary.org/obo/MONDO_0017949 ABetaE22G amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Arctic type|cerebral amyloid angiopathy, APP-related, Arctic variant|HCHWA, Arctic type ordo_clinical_subtype UBERON:0012168 umbilical cord blood biolink:AnatomicalEntity mondo blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]. http://purl.obolibrary.org/obo/UBERON_0012168 fetal blood|cord blood|umbilical cord blood MONDO:0017956 mixed autoinflammatory and autoimmune syndrome biolink:Disease mondo Orphanet:324933|UMLS:CN204102 ORPHA:324933|UMLS:CN204102 http://purl.obolibrary.org/obo/MONDO_0017956 ordo_group_of_disorders MONDO:0017957 unclassified autoinflammatory syndrome biolink:Disease mondo Orphanet:324936|UMLS:CN204103 ORPHA:324936|UMLS:CN204103 http://purl.obolibrary.org/obo/MONDO_0017957 ordo_group_of_disorders MONDO:0042902 Say-Carpenter syndrome biolink:Disease mondo GARD:0000240 http://purl.obolibrary.org/obo/MONDO_0042902 Say Carpenter syndrome|metaphyseal dysplasia hypertelorism hypospadias gard_rare MONDO:0017958 magic syndrome biolink:Disease mondo UMLS:CN204105|Orphanet:324972|GARD:0013371 ORPHA:324972|UMLS:CN204105 http://purl.obolibrary.org/obo/MONDO_0017958 mouth and genital ulcers with inflamed cartilage ordo_disease MONDO:0017959 obsolete JMP syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017959 HGNC:9349 PRDM5 biolink:OntologyClass mondo http://identifiers.org/hgnc/9349 MONDO:0017952 non-familial rare disease with dilated cardiomyopathy biolink:Disease mondo Orphanet:324767|UMLS:CN204097 UMLS:CN204097|ORPHA:324767 http://purl.obolibrary.org/obo/MONDO_0017952 ordo_group_of_disorders MONDO:0017953 hereditary periodic fever syndrome biolink:Disease mondo Orphanet:324924|ICD10:E85.0|MESH:D056660|UMLS:CN204099 An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. ORPHA:324924|MESH:D056660|UMLS:CN204099 http://purl.obolibrary.org/obo/MONDO_0017953 hereditary periodic fever syndrome ordo_group_of_disorders MONDO:0017954 pyogenic autoinflammatory syndrome biolink:Disease mondo Orphanet:324927|UMLS:CN204100 ORPHA:324927|UMLS:CN204100 http://purl.obolibrary.org/obo/MONDO_0017954 ordo_group_of_disorders MONDO:0017955 granulomatous autoinflammatory syndrome biolink:Disease mondo Orphanet:324930|UMLS:CN204101 ORPHA:324930|UMLS:CN204101 http://purl.obolibrary.org/obo/MONDO_0017955 ordo_group_of_disorders GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide biolink:OntologyClass mondo An immune response against microbes mediated by anti-microbial peptides in body fluid. http://purl.obolibrary.org/obo/GO_0061844 peptide-mediated antimicrobial humoral response|antimicrobial peptide-mediated antimicrobial humoral response NCBITaxon:2662056 Retaria organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2662056 GO:0048869 cellular developmental process biolink:OntologyClass mondo A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/GO_0048869 HGNC:9343 PRCC biolink:OntologyClass mondo http://identifiers.org/hgnc/9343 MONDO:0017950 microcephalic primordial dwarfism biolink:Disease mondo DC:0000561|UMLS:CN437676|ICD10:Q87.1|Orphanet:324761 UMLS:CN437676|ORPHA:324761 http://purl.obolibrary.org/obo/MONDO_0017950 ordo_group_of_disorders MONDO:0017951 trichorhinophalangeal syndrome biolink:Disease mondo SCTID:18077009|OMIMPS:190350|UMLS:C0265255|ICD10:Q87.8|Orphanet:324764|ICD9:759.89 UMLS:C0265255|SNOMEDCT:18077009|ORPHA:324764 http://purl.obolibrary.org/obo/MONDO_0017951 TRPS ordo_group_of_disorders MONDO:0005959 sick building syndrome biolink:Disease mondo EFO:0007484|UMLS:C0037050|SCTID:19076009|DOID:2710|MESH:D018877 A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992) SNOMEDCT:19076009|DOID:2710|MESH:D018877|UMLS:C0037050 http://purl.obolibrary.org/obo/MONDO_0005959 NCBITaxon:10372 Human betaherpesvirus 7 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10372 HHV-7|human herpesvirus 7 HHV-7|Human herpesvirus 7|Herpes simplex virus 7|Human herpesvirus type 7 MONDO:0042908 Schaap-Taylor-Baraitser syndrome biolink:Disease mondo GARD:0000248 http://purl.obolibrary.org/obo/MONDO_0042908 Schaap Taylor Baraitser syndrome|cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature gard_rare GO:0048872 homeostasis of number of cells biolink:OntologyClass mondo Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. http://purl.obolibrary.org/obo/GO_0048872 homeostasis of cell number|cell population homeostasis MONDO:0005978 theileriasis biolink:Disease mondo EFO:0007506|MESH:D013801|ICD9:136.8|SCTID:68771000|DOID:3733|UMLS:C0039753 Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition. UMLS:C0039753|SNOMEDCT:68771000|MESH:D013801|DOID:3733 http://purl.obolibrary.org/obo/MONDO_0005978 infection by Theileria|theileriosis MONDO:0003315 endometrium carcinoma in situ biolink:Disease mondo DOID:5172|ICD9:233.2|SCTID:92582009|UMLS:C0346191|ICD10:D07.0 A carcinoma in situ involving a endometrium. UMLS:C0346191|SNOMEDCT:92582009|DOID:5172 http://purl.obolibrary.org/obo/MONDO_0003315 endometrial carcinoma in situ|stage 0 endometrium carcinoma|endometrium in situ carcinoma|carcinoma in situ of endometrium CHEBI:25985 phenylalanine derivative biolink:ChemicalSubstance mondo An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine by a heteroatom. The definition normally excludes peptides containing phenylalanine residues. http://purl.obolibrary.org/obo/CHEBI_25985 MONDO:0005977 tabes dorsalis biolink:Disease mondo MESH:D013606|ICD9:094.0|GARD:0008730|DOID:10027|NCIT:C35057|COHD:373962|EFO:0007505|UMLS:C0039223|ICD10:A52.11|SCTID:316841006 A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints. UMLS:C0039223|NCIT:C35057|MESH:D013606|SNOMEDCT:316841006|DOID:10027 http://purl.obolibrary.org/obo/MONDO_0005977 tabes dorsalis - neurosyphilis|syphilitic myelopathy|posterior spinal sclerosis MONDO:0003316 nonanaplastic kidney Wilms tumor biolink:Disease mondo NCIT:C6951|UMLS:C1335062 Wilms tumor of the kidney characterized by the absence of nuclear anaplasia. UMLS:C1335062|NCIT:C6951 http://purl.obolibrary.org/obo/MONDO_0003316 Nonanaplastic renal Wilms tumor|Nonanaplastic renal Wilms' tumor|Nonanaplastic renal Wilm's tumor|Nonanaplastic kidney Wilms tumor|nonanaplastic renal Wilms tumor GO:0048873 homeostasis of number of cells within a tissue biolink:OntologyClass mondo Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. http://purl.obolibrary.org/obo/GO_0048873 MONDO:0003317 metachronous kidney Wilms' tumor biolink:Disease mondo NCIT:C38158|DOID:5178|UMLS:C1334705 Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor. UMLS:C1334705|DOID:5178|NCIT:C38158 http://purl.obolibrary.org/obo/MONDO_0003317 metachronous Wilms tumor|metachronous Wilms tumor of the kidney|metachronous Wilms' tumor MONDO:0003318 mixed cell type kidney Wilms' tumor biolink:Disease mondo UMLS:C0279611|NCIT:C9149|DOID:5179 Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). DOID:5179|UMLS:C0279611|NCIT:C9149 http://purl.obolibrary.org/obo/MONDO_0003318 mixed cell type renal Wilms' tumor|mixed cell type kidney Wilms tumor|mixed cell type renal adenosarcoma|mixed cell type kidney adenosarcoma|mixed cell type renal Wilm's tumor|mixed cell type nephroblastoma|mixed cell type renal Wilms tumor|Mixed cell type Wilms tumor MONDO:0005979 thoracic outlet syndrome biolink:Disease mondo UMLS:C0039984|EFO:0007507|SCTID:128210009|MESH:D013901|ICD10:G54.0|NCIT:C85188|Orphanet:97330|DOID:3103|MedDRA:10048627 A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip. MEDDRA:10048627|UMLS:C0039984|ORPHA:97330|MESH:D013901|DOID:3103|NCIT:C85188|SNOMEDCT:128210009 http://purl.obolibrary.org/obo/MONDO_0005979 thoracic outlet compression syndrome|TOS|TOS - thoracic outlet syndrome ordo_disease GO:0048875 chemical homeostasis within a tissue biolink:OntologyClass mondo Any process involved in the maintenance of the internal steady state of the amount of a chemical at the level of the tissue. http://purl.obolibrary.org/obo/GO_0048875 OBO:exo.obo#interacts_with_an_exposure_receptor_via interacts_with_an_exposure_receptor_via biolink:OntologyClass mondo http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via MONDO:0005974 strongyloidiasis biolink:Disease mondo SCTID:187176005|DOID:10955|UMLS:C0348996|GARD:0008195|ICD10:B78.1|ICD10:B78.0|ICD10:B78|NCIT:C128398|EFO:0007501|Orphanet:76|UMLS:C0038463|ICD9:127.2|UMLS:C0085810|ICD10:B78.9|ICD10:B78.7|MedDRA:10042254|MESH:D013322 An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection. DOID:10955|MESH:D013322|UMLS:C0085810|UMLS:C0038463|NCIT:C128398|ORPHA:76|UMLS:C0348996|MEDDRA:10042254|SNOMEDCT:187176005 http://purl.obolibrary.org/obo/MONDO_0005974 Anguillulosis|Anguilluliasis|infection by Strongyloides|disseminated strongyloidiasis ordo_disease MONDO:0003311 endometrial stromal tumor biolink:Disease mondo SCTID:446887007|MESH:D036821|UMLS:C0334695|ICD9:239.5|DOID:5166|EFO:1000920 Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal). UMLS:C0334695|DOID:5166|SNOMEDCT:446887007|MESH:D036821 http://purl.obolibrary.org/obo/MONDO_0003311 endometrial stromal tumor|tumor of endometrial stroma|endometrial stroma neoplasm|endometrial stromal neoplasm|neoplasm of endometrial stroma|endometrial stromal tumor (morphologic abnormality)|endometrial stroma tumor UBERON:0012152 skeleton of pedal digitopodium biolink:AnatomicalEntity mondo A subdivision of the pes skeleton consisting of both pedal acropodial skeleton and metatarsal skeleton, but excluding the tarsal skeleton. http://purl.obolibrary.org/obo/UBERON_0012152 pedal digitopodium MONDO:0003312 ovarian endometrioid stromal and related neoplasms biolink:Disease mondo DOID:5169|UMLS:C4288544|NCIT:C40065 A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. NCIT:C40065|DOID:5169|UMLS:C4288544 http://purl.obolibrary.org/obo/MONDO_0003312 ovarian endometrioid stromal sarcoma|endometrioid stromal and related neoplasms of ovary|ovary endometrioid stromal and related neoplasms|ovarian endometrioid stromal and related neoplasms MONDO:0005973 Strongylida infectious disease biolink:Disease mondo MESH:D017206|EFO:0007500 Infections with nematodes of the order strongylida. MESH:D017206 http://purl.obolibrary.org/obo/MONDO_0005973 UBERON:0012151 skeleton of manual digitopodium biolink:AnatomicalEntity mondo A subdivision of the manus skeleton consisting of both manual acropodial skeleton and metacarpal skeleton, but excluding the carpal skeleton. http://purl.obolibrary.org/obo/UBERON_0012151 manual digitopodium HGNC:9350 PRDM6 biolink:OntologyClass mondo http://identifiers.org/hgnc/9350 MONDO:0003313 endometrioid stromal sarcoma of the vagina biolink:Disease mondo DOID:5170|UMLS:C3642329|NCIT:C40270 A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma. NCIT:C40270|DOID:5170|UMLS:C3642329 http://purl.obolibrary.org/obo/MONDO_0003313 endometrioid stromal sarcoma of vagina|endometrioid stromal sarcoma of the vagina|vagina endometrioid stromal sarcoma|vaginal endometrial stromal sarcoma MONDO:0005976 syphilis biolink:Disease mondo COHD:436033|NCIT:C35055|DOID:4166|MedDRA:10062120|SCTID:76272004|EFO:0007504|ICD10:A51.0|ICD9:097.9|MESH:D013587 A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system. NCIT:C35055|DOID:4166|MESH:D013587|SNOMEDCT:76272004 http://purl.obolibrary.org/obo/MONDO_0005976 Treponema pallidum infectious disease|Treponema pallidum caused disease or disorder|Treponema pallidum disease or disorder|syphilitic chancre UBERON:0012150 skeleton of digitopodium biolink:AnatomicalEntity mondo A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. http://purl.obolibrary.org/obo/UBERON_0012150 digitopodium|skeleton of digits GO:0048878 chemical homeostasis biolink:OntologyClass mondo Any biological process involved in the maintenance of an internal steady state of a chemical. http://purl.obolibrary.org/obo/GO_0048878 MONDO:0003314 endometrioid stromal and related neoplasms of the vagina biolink:Disease mondo UMLS:C4289585|NCIT:C40269|DOID:5171 A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. NCIT:C40269|DOID:5171|UMLS:C4289585 http://purl.obolibrary.org/obo/MONDO_0003314 endometrioid stromal and related tumors of the vagina|vaginal endometrial stromal tumor|vagina endometrioid stromal and related neoplasms|endometrioid stromal and related neoplasms of the vagina|endometrioid stromal and related neoplasms of vagina MONDO:0005975 suppurative otitis media biolink:Disease mondo SCTID:39288006|DOID:11506|COHD:376712|ICD10:H66|EFO:0007503|ICD10:H66.40|ICD9:382|UMLS:C0029888|MESH:D010035|ICD10:H66.4|ICD9:382.4 Inflammation of the middle ear with purulent discharge. SNOMEDCT:39288006|MESH:D010035|DOID:11506|UMLS:C0029888 http://purl.obolibrary.org/obo/MONDO_0005975 purulent otitis media|otitis media with effusion - purulent MONDO:0005970 staphylococcal pneumonia biolink:Disease mondo MESH:D011023|ICD9:482.49|COHD:259852|ICD9:482.4|EFO:0007496|ICD9:482.40|SCTID:22754005 Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus. MESH:D011023|SNOMEDCT:22754005 http://purl.obolibrary.org/obo/MONDO_0005970 Staphylococcus caused pneumonia|Staphylococcus pneumonia NCBITaxon:1716 Corynebacterium organism taxon mondo PMID:10425754|PMID:8186090|GC_ID:11|PMID:30186281|PMID:29760685|PMID:7547284|PMID:7547293|PMID:19661509|PMID:7547291 http://purl.obolibrary.org/obo/NCBITaxon_1716 Turicella NCBITaxon:1717 Corynebacterium diphtheriae organism taxon mondo GC_ID:11|PMID:7729671 http://purl.obolibrary.org/obo/NCBITaxon_1717 Pacinia loeffleri|Microsporon diphthericum|Mycobacterium diphtheriae|Microsporon diphtheriticum|Bacterium diphtheriae|Bacillus diphtheriae MONDO:0005972 streptococcal pneumonia biolink:Disease mondo SCTID:233607000|ICD10:J13|ICD9:482.39|EFO:0007499|MESH:D011018|ICD9:482.30|ICD9:481|DOID:0040084|UMLS:C0155862 A febrile disease caused by streptococcus pneumoniae. MESH:D011018|SNOMEDCT:233607000|UMLS:C0155862|DOID:0040084 http://purl.obolibrary.org/obo/MONDO_0005972 Streptococcus pneumoniae pneumonia|streptococcal pneumonia|Streptococcus pneumoniae caused pneumonia|pneumonia due to streptococcus|pneumonia caused by streptococcus|pneumococcal pneumonia|Streptococcus pneumonia MONDO:0005971 staphyloenterotoxemia biolink:Disease mondo NCIT:C35037|ICD9:005.0|SCTID:84622004|UMLS:C0038159|GARD:0009559|DOID:96|EFO:0007497|MESH:D013202|ICD10:A05.0 Food poisoning that is caused by Staphylococcal infection. UMLS:C0038159|MESH:D013202|SNOMEDCT:84622004|DOID:96|NCIT:C35037 http://purl.obolibrary.org/obo/MONDO_0005971 staphylococcal food poisoning|staphylococcal toxaemia due to food|staphyloenterotoxicosis MONDO:0003310 Monckeberg arteriosclerosis biolink:Disease mondo DOID:5161|NCIT:C35770|UMLS:C0887866 A type of arteriosclerosis in which calcification of the tunica media is the predominant feature. UMLS:C0887866|DOID:5161|NCIT:C35770 http://purl.obolibrary.org/obo/MONDO_0003310 Mönckeberg arteriosclerosis UBERON:0036146 cardiopharyngeal field biolink:AnatomicalEntity mondo An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. http://purl.obolibrary.org/obo/UBERON_0036146 MONDO:0017938 obsolete X-linked cleft palate and ankyloglossia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017938 MONDO:0017939 classic multiminicore myopathy biolink:Disease mondo UMLS:CN204085|ICD10:G71.2|Orphanet:324604 UMLS:CN204085|ORPHA:324604 http://purl.obolibrary.org/obo/MONDO_0017939 classic multiminicore disease|classic MmD ordo_clinical_subtype GO:0048870 cell motility biolink:OntologyClass mondo Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. http://purl.obolibrary.org/obo/GO_0048870 cell locomotion|movement of a cell|cell movement GO:0048871 multicellular organismal homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. http://purl.obolibrary.org/obo/GO_0048871 MONDO:0017945 ABetaL34V amyloidosis biolink:Disease mondo ICD10:E85.4+|Orphanet:324703|ICD10:I68.0* Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. ORPHA:324703 http://purl.obolibrary.org/obo/MONDO_0017945 HCHWA, Piedmont type|ABeta amyloidosis, Piedmont type|hereditary cerebral hemorrhage with amyloidosis, Piedmont type|ABetaL34V-related amyloidosis ordo_clinical_subtype UBERON:0000170 pair of lungs biolink:AnatomicalEntity mondo The pair of anatomical structures comprised of a left lung and right lung. http://purl.obolibrary.org/obo/UBERON_0000170 pulmones|lungs|lungs pair|set of lungs MONDO:0042912 Schlegelberger-Grote syndrome biolink:Disease mondo MESH:C536635|GARD:0000255|UMLS:C2931273 MESH:C536635|UMLS:C2931273 http://purl.obolibrary.org/obo/MONDO_0042912 syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear|triphalangeal thumbs thrombocytopathy deafness|Schlegelberger Grote syndrome gard_rare MONDO:0042913 Schrander-stumpel-Theunissen-Hulsmans syndrome biolink:Disease mondo UMLS:C2931275|GARD:0000256|MESH:C536639 MESH:C536639|UMLS:C2931275 http://purl.obolibrary.org/obo/MONDO_0042913 vitiligo, psychomotor retardation, cleft palate and facial dysmorphism|vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism|Schrander-Stumpel Theunissen Hulsmans syndrome gard_rare MONDO:0017946 ABeta amyloidosis, Iowa type biolink:Disease mondo ICD10:I68.0*|Orphanet:324708|ICD10:E85.4+ Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages. ORPHA:324708 http://purl.obolibrary.org/obo/MONDO_0017946 ABetaD23N amyloidosis|cerebral amyloid angiopathy, APP-related, Iowa variant|HCHWA, Iowa type|hereditary cerebral hemorrhage with amyloidosis, Iowa type ordo_clinical_subtype UBERON:0000171 respiration organ biolink:AnatomicalEntity mondo Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/UBERON_0000171 breathing organ|organ of apparatus respiratorius|organ of respiratory system|apparatus respiratorius organ|respiratory organ|respiratory system organ|gas exchange organ MONDO:0017947 ABeta amyloidosis, Italian type biolink:Disease mondo ICD10:E85.4+|Orphanet:324713|ICD10:I68.0* Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. ORPHA:324713 http://purl.obolibrary.org/obo/MONDO_0017947 hereditary cerebral hemorrhage with amyloidosis, Italian type|HCHWA, Italian type|cerebral amyloid angiopathy, APP-related, Italian variant|ABetaE22K amyloidosis ordo_clinical_subtype HGNC:9359 SLC26A5 biolink:OntologyClass mondo http://identifiers.org/hgnc/9359 CHEBI:37962 adrenergic agent biolink:ChemicalSubstance mondo Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter. http://purl.obolibrary.org/obo/CHEBI_37962 adrenergics|adrenergic neuron agents|adrenergic drug|adrenergic agents|adrenergic drugs MONDO:0017948 ABetaA21G amyloidosis biolink:Disease mondo ICD10:I68.0*|Orphanet:324718|ICD10:E85.4+ Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients. ORPHA:324718 http://purl.obolibrary.org/obo/MONDO_0017948 cerebral amyloid angiopathy, APP-related, Flemish variant|ABetaA21G-related amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Flemish type|ABeta amyloidosis, Flemish type|HCHWA, Flemish type ordo_clinical_subtype MONDO:0042915 Schmitt-Gillenwater-Kelly syndrome biolink:Disease mondo GARD:0000258 http://purl.obolibrary.org/obo/MONDO_0042915 radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema|Schmitt Gillenwater Kelly syndrome gard_rare UBERON:0000173 amniotic fluid biolink:AnatomicalEntity mondo Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid. http://purl.obolibrary.org/obo/UBERON_0000173 liquor amnii|acqua amnii MONDO:0017941 chikungunya biolink:Disease mondo MESH:D065632|Orphanet:324625|SCTID:111864006|NCIT:C128422|UMLS:C0008055|ICD10:A92.0|DOID:0050012|GARD:0006038 An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia. ORPHA:324625|DOID:0050012|UMLS:C0008055|SNOMEDCT:111864006|NCIT:C128422|MESH:D065632 http://purl.obolibrary.org/obo/MONDO_0017941 Chikungunya virus infection|Chikungunya virus infectious disease|Chikungunya virus caused disease or disorder|Chikungunya virus disease or disorder|CHIKV infection|CK|arbovirus A Chikungunya type|CHIK|Chikungunya fever gard_rare|ordo_disease MONDO:0017942 Hendra virus infection biolink:Disease mondo ICD10:B33.8|Orphanet:324632 Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported. ORPHA:324632 http://purl.obolibrary.org/obo/MONDO_0017942 Hendra henipavirus disease or disorder|Hendra henipavirus infectious disease|Hendra henipavirus caused disease or disorder ordo_disease MONDO:0017943 autoerythrocyte sensitization syndrome biolink:Disease mondo GARD:0006481|UMLS:C0301928|ICD9:287.2|Orphanet:324636|MESH:C535645|SCTID:275446004|ICD10:D69.2 ORPHA:324636|SNOMEDCT:275446004|MESH:C535645|UMLS:C0301928 http://purl.obolibrary.org/obo/MONDO_0017943 GDS|Gardner-Diamond syndrome|psychogenic purpura|painful bruising syndrome|Autoerythrocyte sensitization purpura|Autoerythrocyte sensitization ordo_disease MONDO:0017944 invasive non-typhoidal salmonellosis biolink:Disease mondo ICD10:A02.2|ICD10:A02.1|ICD10:A02.0|SCTID:763772002|Orphanet:324648|ICD10:A02.9|ICD10:A02.8 Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed. ORPHA:324648|SNOMEDCT:763772002 http://purl.obolibrary.org/obo/MONDO_0017944 invasive non-typhoidal salmonella disease|iNTS disease ordo_disease MONDO:0042911 Schwartz-Cohen-addad-Lambert syndrome biolink:Disease mondo GARD:0000253|MESH:C535835|UMLS:C2931036 MESH:C535835|UMLS:C2931036 http://purl.obolibrary.org/obo/MONDO_0042911 Schwartz Cohen-Addad Lambert syndrome|congenital melanocytosis with myelomeningocele and hydrocephalus gard_rare UBERON:0000178 blood biolink:AnatomicalEntity mondo A fluid that is composed of blood plasma and erythrocytes. http://purl.obolibrary.org/obo/UBERON_0000178 vertebrate blood|whole blood|portion of blood UBERON:0000179 haemolymphatic fluid biolink:AnatomicalEntity mondo Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. http://purl.obolibrary.org/obo/UBERON_0000179 blood or blood analog|circulating fluid MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation biolink:Disease mondo ICD10:G60.0|Orphanet:324611|UMLS:CN204086|SCTID:764730007 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. ORPHA:324611|SNOMEDCT:764730007|UMLS:CN204086 http://purl.obolibrary.org/obo/MONDO_0017940 CMT2 due to KIF5A mutation ordo_disease MONDO:0003308 pleural mesothelioma biolink:Disease mondo ONCOTREE:PLMESO|HP:0100002|SCTID:109372009|NCIT:C9351|EFO:1000485 A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath. SNOMEDCT:109372009|NCIT:C9351 http://purl.obolibrary.org/obo/MONDO_0003308 benign pleural mesothelioma|pleural mesothelioma (disease)|pleura mesothelioma|pleural mesothelioma (disease), benign|mesothelioma of the pleura|pleural mesothelioma|mesothelioma of pleura UBERON:0000174 excreta biolink:AnatomicalEntity mondo A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity http://purl.obolibrary.org/obo/UBERON_0000174 excretion|portion of excreted substance|excreted substance|waste substance MONDO:0003309 obsolete pleural cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003309 MONDO:0005945 rhinoscleroma biolink:Disease mondo SCTID:72409005|UMLS:C0035468|ICD9:040.1|DOID:11336|EFO:0007470|MESH:D012226 A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin. UMLS:C0035468|DOID:11336|SNOMEDCT:72409005|MESH:D012226 http://purl.obolibrary.org/obo/MONDO_0005945 MONDO:0005944 Rhabdoviridae infectious disease biolink:Disease mondo MESH:D018353|EFO:0007469|UMLS:C0206751 Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis. UMLS:C0206751|MESH:D018353 http://purl.obolibrary.org/obo/MONDO_0005944 Rhabdoviridae infection|infections, Rhabdoviridae|infection, Rhabdoviridae UBERON:0036150 skin appendage follicle biolink:AnatomicalEntity mondo An organ subunit in the skin that gives rise to cutaneous appendage. http://purl.obolibrary.org/obo/UBERON_0036150 follicle|cutaneous appendage follicle|skin follicle MONDO:0005947 rickettsial pneumonia biolink:Disease mondo ICD9:484.8|EFO:0007472|SCTID:233621003|MESH:D011022|UMLS:C0032307 Pneumonia caused by infection with bacteria of the family rickettsiaceae. SNOMEDCT:233621003|UMLS:C0032307|MESH:D011022 http://purl.obolibrary.org/obo/MONDO_0005947 Rickettsiaceae caused pneumonia|Rickettsiaceae pneumonia MONDO:0005946 rhinosporidiosis biolink:Disease mondo MESH:D012227|ICD9:117.0|UMLS:C0035469|EFO:0007471|COHD:438364|DOID:2409|ICD10:B48.1|SCTID:18140003 Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi. UMLS:C0035469|DOID:2409|SNOMEDCT:18140003|MESH:D012227 http://purl.obolibrary.org/obo/MONDO_0005946 Rhinosporidium seeberi disease or disorder|Rhinosporidium seeberi infectious disease|Rhinosporidium seeberi caused disease or disorder|infection by Rhinosporidium seeberi|Rhinosporidioses clingen MONDO:0005941 retroperitoneal cancer biolink:Disease mondo ICD9:158.0|ICD9:158|ICD10:C48.0|ICD10:C48|MESH:D012186|DOID:5875|SCTID:126872008|NCIT:C3537|EFO:0007466 A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. NCIT:C3537|MESH:D012186|DOID:5875|SNOMEDCT:126872008 http://purl.obolibrary.org/obo/MONDO_0005941 tumor of retroperitoneum|malignant neoplasm of retroperitoneum and peritoneum|malignant neoplasm of retroperitoneum|malignant neoplasm of retroperitoneal space|malignant tumor of peritoneum and retroperitoneum|malignant retroperitoneal neoplasm|malignant retroperitoneal space neoplasm|retroperitoneal space cancer|neoplasm of the retroperitoneum|malignant retroperitoneal cancer|neoplasm of retroperitoneum|cancer of retroperitoneal space|retroperitoneal neoplasm HGNC:9360 PRF1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9360 UBERON:0012141 manual digitopodium region biolink:AnatomicalEntity mondo A digitopodium region that is part of a manus[Obol]. This includes the fingers and metacarpal region, but excludes the carpal region. http://purl.obolibrary.org/obo/UBERON_0012141 MONDO:0005940 respirovirus infectious disease biolink:Disease mondo MESH:D010253|UMLS:C3714630|EFO:0007465 Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface. UMLS:C3714630|MESH:D010253 http://purl.obolibrary.org/obo/MONDO_0005940 infections, Respirovirus UBERON:0012140 digitopodium region biolink:AnatomicalEntity mondo A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. http://purl.obolibrary.org/obo/UBERON_0012140 acropodium (Wagner) NCBITaxon:10357 Betaherpesvirinae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesviruses MONDO:0005943 Rhabditida infectious disease biolink:Disease mondo GARD:0008203|UMLS:C0162631|EFO:0007468|MESH:D017196 Infections with nematodes of the order rhabditida. MESH:D017196|UMLS:C0162631 http://purl.obolibrary.org/obo/MONDO_0005943 infection, Rhabditida|infections, Rhabditida|Rhabditida infections|Rhabditida infection CHEBI:50910 neurotoxin biolink:ChemicalSubstance mondo A poison that interferes with the functions of the nervous system. http://purl.obolibrary.org/obo/CHEBI_50910 neurotoxins|neurotoxicant|nerve poisons|agente neurotoxico|neurotoxic agents|neurotoxic agent|nerve poison NCBITaxon:10358 Cytomegalovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10358 MONDO:0005942 Reye syndrome biolink:Disease mondo COHD:375241|Orphanet:3096|ICD9:331.81|ICD10:G93.7|NCIT:C34983|SCTID:74351001|GARD:0007570|UMLS:C0035400|MedDRA:10039012|DOID:14525|MESH:D012202|EFO:0007467 An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. ORPHA:3096|SNOMEDCT:74351001|MESH:D012202|DOID:14525|NCIT:C34983|UMLS:C0035400|MEDDRA:10039012 http://purl.obolibrary.org/obo/MONDO_0005942 Reye's syndrome ordo_disease UBERON:0012142 pedal digitopodium region biolink:AnatomicalEntity mondo A digitopodium region that is part of a pes[Obol]. This includes the toes and metatarsal region, but excludes the tarsals region. http://purl.obolibrary.org/obo/UBERON_0012142 MONDO:0017927 severe lateral tibial bowing with short stature biolink:Disease mondo UMLS:CN204066|ICD10:Q68.4|SCTID:766819001|Orphanet:324307 Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. UMLS:CN204066|ORPHA:324307|SNOMEDCT:766819001 http://purl.obolibrary.org/obo/MONDO_0017927 ordo_disease MONDO:0017928 9p13 microdeletion syndrome biolink:Disease mondo Orphanet:324313|UMLS:CN204067|ICD10:Q93.5|SCTID:764725008 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). SNOMEDCT:764725008|UMLS:CN204067|ORPHA:324313 http://purl.obolibrary.org/obo/MONDO_0017928 monosomy 9p13|Del(9)(p13) ordo_malformation_syndrome GO:0048880 sensory system development biolink:OntologyClass mondo The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0048880 MONDO:0017929 congenital achiasma biolink:Disease mondo Orphanet:324353|ICD10:H47.4|SCTID:734031008 Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. ORPHA:324353|SNOMEDCT:734031008 http://purl.obolibrary.org/obo/MONDO_0017929 ordo_morphological_anomaly MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome biolink:Disease mondo ICD10:Q87.0|Orphanet:324540|UMLS:CN204076 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. UMLS:CN204076|ORPHA:324540 http://purl.obolibrary.org/obo/MONDO_0017934 aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome|aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome ordo_malformation_syndrome MONDO:0017935 hyperinsulinism due to HNF1A deficiency biolink:Disease mondo Orphanet:324575|SCTID:721234004|ICD10:E16.1|UMLS:C4303475 Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life. SNOMEDCT:721234004|ORPHA:324575|UMLS:C4303475 http://purl.obolibrary.org/obo/MONDO_0017935 hyperinsulinemic hypoglycemia due to HNF1A deficiency ordo_disease UBERON:0000160 intestine biolink:AnatomicalEntity mondo Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. http://purl.obolibrary.org/obo/UBERON_0000160 intestinal tract|bowel MONDO:0042924 Vagneur-Triolle-Ripert syndrome biolink:Disease mondo GARD:0000271 http://purl.obolibrary.org/obo/MONDO_0042924 hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age|Vagneur Triolle Ripert syndrome gard_rare UBERON:0000161 orifice biolink:AnatomicalEntity mondo Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. http://purl.obolibrary.org/obo/UBERON_0000161 ostium|anatomical ostium|anatomical orifice|hilum MONDO:0017936 benign Samaritan congenital myopathy biolink:Disease mondo Orphanet:324581|ICD10:G71.2 Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. ORPHA:324581 http://purl.obolibrary.org/obo/MONDO_0017936 ordo_disease UBERON:0000162 cloaca biolink:AnatomicalEntity mondo Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures http://purl.obolibrary.org/obo/UBERON_0000162 vent|cloacal chamber MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain biolink:Disease mondo ICD10:G60.0|Orphanet:324585|UMLS:CN204081 UMLS:CN204081|ORPHA:324585 http://purl.obolibrary.org/obo/MONDO_0017937 ordo_disease UBERON:0012139 segment of autopod biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012139 MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations biolink:Disease mondo ICD10:M85.8|Orphanet:324364 ORPHA:324364 http://purl.obolibrary.org/obo/MONDO_0017930 ordo_disease MONDO:0017931 hereditary inclusion body myopathy type 4 biolink:Disease mondo ICD10:G71.8|Orphanet:324381|UMLS:CN227223 Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. ORPHA:324381|UMLS:CN227223 http://purl.obolibrary.org/obo/MONDO_0017931 HIBM4 ordo_disease MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome biolink:Disease mondo UMLS:CN204070|Orphanet:324416 ORPHA:324416|UMLS:CN204070 http://purl.obolibrary.org/obo/MONDO_0017932 ordo_malformation_syndrome MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation biolink:Disease mondo UMLS:CN204073|Orphanet:324525|ICD10:I42.2 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. UMLS:CN204073|ORPHA:324525 http://purl.obolibrary.org/obo/MONDO_0017933 hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation ordo_disease UBERON:0000167 oral cavity biolink:AnatomicalEntity mondo Anatomical cavity at the start of the digestive tract that that is enclosed by the mouth. The boundaries and contents vary depending on the species. In vertebrates, the boundaries are the oral opening, the cheeks, the palate and (if present) the palatoglossal arch - if this is not present then the mouth and pharynx form the oropharyngeal cavity. The buccal cavity contains the teeth, tongue and palate (when present) http://purl.obolibrary.org/obo/UBERON_0000167 bucca|cavity of mouth|buccal cavity HGNC:9364 PRG4 biolink:OntologyClass mondo http://identifiers.org/hgnc/9364 UBERON:0000168 proximal-distal subdivision of colon biolink:AnatomicalEntity mondo A section dividing a colon along a proximal-distal axis. http://purl.obolibrary.org/obo/UBERON_0000168 segment of colon MONDO:0005938 renal tuberculosis biolink:Disease mondo UMLS:C0041328|ICD9:016.0|COHD:193955|DOID:9733|EFO:0007463|ICD9:016.00|SCTID:44323002|MESH:D014398|NCIT:C123020 Infection of the kidney due to mycobacteria. DOID:9733|NCIT:C123020|SNOMEDCT:44323002|MESH:D014398|UMLS:C0041328 http://purl.obolibrary.org/obo/MONDO_0005938 tuberculosis of kidney|kidney tuberculosis UBERON:0000163 embryonic cloaca biolink:AnatomicalEntity mondo endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. http://purl.obolibrary.org/obo/UBERON_0000163 cloaca UBERON:0000164 primitive urogenital sinus biolink:AnatomicalEntity mondo the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females http://purl.obolibrary.org/obo/UBERON_0000164 sinus urogenitalis|fetal UGS|UGS|urogenital sinus MONDO:0005937 REM sleep behavior disorder biolink:Disease mondo DOID:9091|ICD9:780.59|EFO:0007462|SCTID:415238003|MESH:D020187|ICD9:327.42|ICD10:G47.52 A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393) SNOMEDCT:415238003|DOID:9091|MESH:D020187 http://purl.obolibrary.org/obo/MONDO_0005937 rapid eye movement sleep behavior disorder UBERON:0000165 mouth biolink:AnatomicalEntity mondo The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). http://purl.obolibrary.org/obo/UBERON_0000165 cavum oris|adult mouth|cavital oralis|vestibule of mouth|cavitas oris|trophic apparatus|oral region|vestibulum oris|regio oralis|oral vestibule|stomatodaeum|rima oris|stoma|mouth cavity UBERON:0000166 oral opening biolink:AnatomicalEntity mondo The orifice that connects the mouth to the exterior of the body. http://purl.obolibrary.org/obo/UBERON_0000166 oral orifice|oral part of face|oral fissure|mouth MONDO:0005939 Reoviridae infectious disease biolink:Disease mondo MESH:D012088|EFO:0007464|UMLS:C0035112 Infections produced by reoviruses, general or unspecified. UMLS:C0035112|MESH:D012088 http://purl.obolibrary.org/obo/MONDO_0005939 infection, Reovirus|infections, Reoviridae|Reoviridae infection|infections, Reovirus|Reovirus infection|Reovirus infections|infection, Reoviridae MONDO:0005956 septicemic plague biolink:Disease mondo SCTID:9012003|EFO:0007481|DOID:3481|ICD9:020.2|ICD10:A20.7|UMLS:C0152936 A plague in which the bacteria have entered the bloodstream. SNOMEDCT:9012003|UMLS:C0152936|DOID:3481 http://purl.obolibrary.org/obo/MONDO_0005956 UBERON:0014790 lingual septum biolink:AnatomicalEntity mondo The lingual septum consists of a vertical layer of fibrous tissue, extending throughout the entire length of the median plane of the tongue, though not quite reaching the dorsum. It is thicker behind than in front, and occasionally contains a small fibrocartilage, about 6 mm. in length. It is well displayed by making a vertical section across the organ. http://purl.obolibrary.org/obo/UBERON_0014790 septum of tongue|median fibrous septum|tongue septum|septum of tongue MONDO:0005955 obsolete scrub typhus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005955 UBERON:0014791 musculature of forelimb stylopod biolink:AnatomicalEntity mondo Any collection of muscles that is part of the forelimb stylopod region [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0014791 musculature of arm|set of muscles of arm|muscle group of arm|arm musculature MONDO:0005958 obsolete sex cord-stromal tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005958 MONDO:0005957 setariasis biolink:Disease mondo DOID:1079|UMLS:C0036850|SCTID:4414005|EFO:0007482|MESH:D012719 Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness. SNOMEDCT:4414005|MESH:D012719|UMLS:C0036850|DOID:1079 http://purl.obolibrary.org/obo/MONDO_0005957 infectious disease by Setaria|Setaria disease or disorder|Setaria infectious disease|Setaria caused disease or disorder UBERON:0014792 musculature of pelvic complex biolink:AnatomicalEntity mondo Any collection of muscles that is part of a pelvic complex. The pelvic complex comprises the pelvic girdle and the associated limb or fin. http://purl.obolibrary.org/obo/UBERON_0014792 musculature of lower limb|musculi membri inferioris|muscles of lower limb MONDO:0005952 scarlet fever biolink:Disease mondo UMLS:C0036285|NCIT:C94575|ICD10:A38.9|ICD9:034.1|COHD:141213|ICD10:A38|MESH:D012541|EFO:0007477|ICD9:034|SCTID:30242009|DOID:8596 A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever. DOID:8596|SNOMEDCT:30242009|NCIT:C94575|MESH:D012541|UMLS:C0036285 http://purl.obolibrary.org/obo/MONDO_0005952 scarlatina NCBITaxon:10368 Human betaherpesvirus 6 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10368 herpes simplex virus type 6|Human herpesvirus type 6|human herpesvirus type 6 HHV-6|HHV-6|Herpesvirus type 6|herpesvirus 6 HHV-6|Human herpesvirus 6|human herpesvirus 6 HHV-6|HHV6 MONDO:0005951 obsolete sarcocystosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005951 MONDO:0005954 screw worm infectious disease biolink:Disease mondo MESH:D012610|DOID:12927|EFO:0007479 Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A. MESH:D012610|DOID:12927 http://purl.obolibrary.org/obo/MONDO_0005954 infection, screw worm|infections, screw worm|screw worm infections|Cochliomyia hominivorax disease or disorder|Cochliomyia hominivorax infectious disease|Cochliomyia hominivorax caused disease or disorder MONDO:0005953 scirrhous adenocarcinoma biolink:Disease mondo NCIT:C2928|MESH:D002293|DOID:4024|EFO:0007478|UMLS:C0007135|ICDO:8141/3 An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction. MESH:D002293|DOID:4024|NCIT:C2928|UMLS:C0007135 http://purl.obolibrary.org/obo/MONDO_0005953 scirrhous adenocarcinoma (morphologic abnormality)|fibrocarcinoma|FIBROADENOCARCINOMA, malignant|scirrhous adenocarcinoma|scirrhous carcinoma|adenocarcinoma with productive fibrosis CHEBI:37949 azacycloalkane biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37949 azacycloalkanes CHEBI:50905 teratogenic agent biolink:ChemicalSubstance mondo A role played by a chemical compound in biological systems with adverse consequences in embryo developments, leading to birth defects, embryo death or altered development, growth retardation and functional defect. http://purl.obolibrary.org/obo/CHEBI_50905 agent teratogene|teratogeno|teratogen CHEBI:50904 allergen biolink:ChemicalSubstance mondo A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. http://purl.obolibrary.org/obo/CHEBI_50904 alergeno|allergene|allergenic agent MONDO:0005950 Salmonella gastroenteritis biolink:Disease mondo COHD:196328|MESH:D012478|SCTID:42338000|ICD9:003.0|EFO:0007475 Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply. MESH:D012478|SNOMEDCT:42338000 http://purl.obolibrary.org/obo/MONDO_0005950 Salmonella caused gastroenteritis CHEBI:50903 carcinogenic agent biolink:ChemicalSubstance mondo A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. http://purl.obolibrary.org/obo/CHEBI_50903 carcinogene|carcinogenic agents|cancerigene|carcinogens|agente carcinogeno|carcinogeno|carcinogen|cancerogene CHEBI:50902 genotoxin biolink:ChemicalSubstance mondo A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells. http://purl.obolibrary.org/obo/CHEBI_50902 genotoxic agent|genotoxic agents|genotoxins MONDO:0017916 pure or complex X-linked spastic paraplegia biolink:Disease mondo Orphanet:320350|ICD10:G11.4 ORPHA:320350 http://purl.obolibrary.org/obo/MONDO_0017916 Pure or complicated X-linked spastic paraplegia ordo_group_of_disorders UBERON:0014793 musculature of pectoral complex biolink:AnatomicalEntity mondo Any collection of muscles that is part of a pectoral complex. The pectoral complex comprises the pectoral girdle and the associated limb or fin. http://purl.obolibrary.org/obo/UBERON_0014793 musculi membri superioris|set of muscles of upper limb|musculature of upper limb|muscles of upper limb|upper limb musculature MONDO:0017917 maternally-inherited spastic paraplegia biolink:Disease mondo Orphanet:320360|ICD10:G11.4 A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. ORPHA:320360 http://purl.obolibrary.org/obo/MONDO_0017917 maternally-inherited SPG|MT-ATP6-related mitochondrial spastic paraplegia ordo_disease CHEBI:50908 hepatotoxic agent biolink:ChemicalSubstance mondo A role played by a chemical compound exihibiting itself through the ability to induce damage to the liver in animals. http://purl.obolibrary.org/obo/CHEBI_50908 agente hepatotoxico|hepatotoxic agents|hepatoxicant|hepatoxic agent|hepatotoxins|hepatotoxicants|hepatotoxin|hepatotoxicant UBERON:0014794 pectoral appendage muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a pectoral appendage (forelimb or pectoral fin). http://purl.obolibrary.org/obo/UBERON_0014794 MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome biolink:Disease mondo MESH:C536701|UMLS:C2931292|GARD:0005560|Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition. MESH:C536701|UMLS:C2931292|ORPHA:3207 http://purl.obolibrary.org/obo/MONDO_0017918 familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency|Curatolo-Cilio-Pessagno syndrome|Curatolo Cilio Pessagno syndrome gard_rare|ordo_malformation_syndrome UBERON:0014795 pelvic appendage muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a pelvic appendage (hindlimb or pelvic fin). http://purl.obolibrary.org/obo/UBERON_0014795 UBERON:0014796 common tendinous ring biolink:AnatomicalEntity mondo A ring of fibrous tissue surrounding the optic nerve at its entrance at the apex of the orbit. http://purl.obolibrary.org/obo/UBERON_0014796 anulus of Zinn|annulus of Zinn|tendon of Zinn|ligament of Zinn|anulus tendineus communis|anulus tendineus|common annular tendon|anulus tendineus communis|common tendinous ring|annulus tendineus communis|common anular tendon MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex biolink:Disease mondo UMLS:C1838703|DOID:0080173|Orphanet:322|ICD10:Q64.1|GARD:0002207 Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. ORPHA:322|UMLS:C1838703|DOID:0080173 http://purl.obolibrary.org/obo/MONDO_0017919 EEC|exstrophy-epispadias complex|BEEC|bladder exstrophy-epispadias-cloacal extrophy complex ordo_malformation_syndrome CHEBI:50906 role biolink:ChemicalSubstance mondo A role is particular behaviour which a material entity may exhibit. http://purl.obolibrary.org/obo/CHEBI_50906 MONDO:0017923 multiple synostoses syndrome biolink:Disease mondo OMIMPS:186500|UMLS:CN204052|Orphanet:3237|ICD10:Q78.8|DOID:0050794 Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. UMLS:CN204052|ORPHA:3237|UMLS:C0175700|DOID:0050794 http://purl.obolibrary.org/obo/MONDO_0017923 facio-audio-symphalangism|deafness-Hermann type symphalangism syndrome|WL syndrome|symphalangism-brachydactyly syndrome ordo_malformation_syndrome MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome biolink:Disease mondo UMLS:CN204056|Orphanet:3240 This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. UMLS:CN204056|ORPHA:3240 http://purl.obolibrary.org/obo/MONDO_0017924 Yoshimura-Takeshita syndrome ordo_disease MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis biolink:Disease mondo UMLS:CN714013|ICD10:D84.8|Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. ORPHA:324294|UMLS:CN714013 http://purl.obolibrary.org/obo/MONDO_0017925 T-cell immunodeficiency due to RHOH deficiency ordo_disease MONDO:0017926 multiple paragangliomas associated with polycythemia biolink:Disease mondo Orphanet:324299|UMLS:CN204064 UMLS:CN204064|ORPHA:324299 http://purl.obolibrary.org/obo/MONDO_0017926 paraganglioma-somatostatinoma-polycythemia syndrome|multiple paragangliomas associated with erythrocytosis ordo_clinical_subtype MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome biolink:Disease mondo Orphanet:3224|MESH:C537887|UMLS:C2931654|ICD10:Q87.8|GARD:0004303|SCTID:721086004 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). UMLS:C2931654|ORPHA:3224|SNOMEDCT:721086004|MESH:C537887 http://purl.obolibrary.org/obo/MONDO_0017920 sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5|Pfeiffer-Kapferer syndrome|short stature, intellectual disability and multiple dysmorphisms|short stature, mental retardation and multiple dysmorphisms|Pfeiffer Kapferer syndrome ordo_malformation_syndrome MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome biolink:Disease mondo SCTID:716239006|MESH:C536927|GARD:0000422|Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. ORPHA:3225|SNOMEDCT:716239006|MESH:C536927 http://purl.obolibrary.org/obo/MONDO_0017921 hearing loss insensitivity to aldosterone|hearing loss and familial salivary gland insensitivity to aldosterone|Tunglang savage Bellman syndrome|Tungland-Bellman syndrome ordo_malformation_syndrome MONDO:0017922 deafness-onychodystrophy syndrome biolink:Disease mondo Orphanet:3231|UMLS:CN204041|ICD10:Q87.8 Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. UMLS:CN204041|ORPHA:3231 http://purl.obolibrary.org/obo/MONDO_0017922 ordo_group_of_disorders UBERON:0000158 membranous layer biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0000158 membranous organ component|membrane UBERON:0000159 anal canal biolink:AnatomicalEntity mondo The terminal part of the large intestine, continuous proximally with the rectum and distally terminates with the anus. http://purl.obolibrary.org/obo/UBERON_0000159 cloacal chamber|canalis analis|mesenteron|anus|anal pad|cloaca|anal canal|pars analis recti|anatomical anal canal|anal canal viewed anatomically MONDO:0005949 roseolovirus infectious disease biolink:Disease mondo UMLS:C0376549|EFO:0007474|MESH:D019349 Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children. MESH:D019349|UMLS:C0376549 http://purl.obolibrary.org/obo/MONDO_0005949 Roseolovirus infectious disease|Roseolovirus caused disease or disorder|Roseolovirus disease or disorder UBERON:0000153 anterior region of body biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0000153 MONDO:0005948 obsolete Ritter disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005948 UBERON:0000154 posterior region of body biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0000154 MONDO:0003348 conventional leiomyosarcoma biolink:Disease mondo UMLS:C1333157|NCIT:C9428|DOID:5253 An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion. DOID:5253|NCIT:C9428|UMLS:C1333157 http://purl.obolibrary.org/obo/MONDO_0003348 conventional leiomyosarcoma|classic leiomyosarcoma MONDO:0003349 central nervous system leiomyosarcoma biolink:Disease mondo NCIT:C6999|DOID:5254|UMLS:C1334385 An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells. DOID:5254|NCIT:C6999|UMLS:C1334385 http://purl.obolibrary.org/obo/MONDO_0003349 leiomyosarcoma of the CNS|CNS leiomyosarcoma|leiomyosarcoma of central nervous system|leiomyosarcoma of the central nervous system|leiomyosarcoma of CNS|central nervous system leiomyosarcoma NCBITaxon:34384 Arthrodermataceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34384 dermatophytes|Arthrodermataceae anamorphs|anamorphic Arthrodermataceae MONDO:0003344 obsolete hemangioblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003344 HGNC:9382 PRKACG biolink:OntologyClass mondo http://identifiers.org/hgnc/9382 MONDO:0003345 hilar cholangiocarcinoma biolink:Disease mondo DOID:4927|DOID:5246|GARD:0010175|MESH:D018285|ICD10:C24.0|NCIT:C36077|SCTID:253017000|UMLS:C0206702|EFO:1001005|Orphanet:99978 A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts. ORPHA:99978|DOID:4927|UMLS:C0206702|MESH:D018285|NCIT:C36077|SNOMEDCT:253017000|DOID:5246 http://purl.obolibrary.org/obo/MONDO_0003345 hilar CC|hilar cholangiocellular carcinoma|hilar cholangiocarcinoma|perihilar cholangiocarcinoma|Klatskin tumor|perihilar extrahepatic bile duct carcinoma|Klatskin's tumor|hilar CCA|hilar portion of hepatic duct cholangiocarcinoma|cholangiocarcinoma of hilar portion of hepatic duct ordo_disease|gard_rare MONDO:0003346 central nervous system vasculitis biolink:Disease mondo NCIT:C84622|DOID:525|UMLS:C0751878|MESH:D020293 Vasculitis affecting the blood vessels of the brain and/or spinal cord. DOID:525|UMLS:C0751878|MESH:D020293|NCIT:C84622 http://purl.obolibrary.org/obo/MONDO_0003346 vasculitis of central nervous system|central nervous system vasculitis HGNC:9380 PRKACA biolink:OntologyClass mondo http://identifiers.org/hgnc/9380 MONDO:0003347 inflammatory leiomyosarcoma biolink:Disease mondo UMLS:C1334179|NCIT:C27495|DOID:5251 A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells. DOID:5251|NCIT:C27495|UMLS:C1334179 http://purl.obolibrary.org/obo/MONDO_0003347 inflammatory leiomyosarcoma MONDO:0003340 malignant glomus tumor biolink:Disease mondo DOID:5233|ONCOTREE:MGST|ICDO:8711/3|ICDO:8710/3|UMLS:C1266111|NCIT:C4221 A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course. NCIT:C4221|DOID:5233|UMLS:C1266111 http://purl.obolibrary.org/obo/MONDO_0003340 malignant glomus tumor|malignant glomus neoplasm|glomus tumor, malignant|glomangiosarcoma MONDO:0003341 subungual glomus tumor biolink:Disease mondo DOID:5236|UMLS:C1304510|SCTID:403973004|ICD9:228.09|NCIT:C36079 A glomus tumor arising in the finger and usually associated with pain. SNOMEDCT:403973004|NCIT:C36079|UMLS:C1304510|DOID:5236 http://purl.obolibrary.org/obo/MONDO_0003341 subungual glomus tumor MONDO:0003342 benign perivascular tumor biolink:Disease mondo DOID:5238|NCIT:C6529|UMLS:C1332532 A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. NCIT:C6529|DOID:5238|UMLS:C1332532 http://purl.obolibrary.org/obo/MONDO_0003342 benign perivascular neoplasm|benign perivascular tumor|benign Pericytic neoplasm|pericytic neoplasm, benign|benign pericytic neoplasm|benign Pericytic tumor MONDO:0003343 retinal hemangioblastoma biolink:Disease mondo UMLS:C1514915|NCIT:C39783|DOID:5240 A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement. UMLS:C1514915|NCIT:C39783|DOID:5240 http://purl.obolibrary.org/obo/MONDO_0003343 retinal hemangioblastoma|vasculature of retina hemangioblastoma|retinal capillary hemangioblastoma|hemangioblastoma of vasculature of retina CHEBI:13941 carbamate biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_13941 Karbamat|carbamic acid, ion(1-)|carbamate ion|Carbamat|carbamate MONDO:0015337 isolated craniosynostosis biolink:Disease mondo ICD10:Q75.0|Orphanet:139390 A craniosynostosis that is not part of a larger syndrome. ORPHA:139390 http://purl.obolibrary.org/obo/MONDO_0015337 nonsyndromic craniosynostosis ordo_group_of_disorders MONDO:0015336 malformation syndrome with odontal and/or periodontal component biolink:Disease mondo UMLS:CN199366|Orphanet:139042 UMLS:CN199366|ORPHA:139042 http://purl.obolibrary.org/obo/MONDO_0015336 ordo_group_of_disorders MONDO:0015335 orofacial clefting syndrome biolink:Disease mondo UMLS:CN199365|Orphanet:139039 UMLS:CN199365|ORPHA:139039 http://purl.obolibrary.org/obo/MONDO_0015335 ordo_group_of_disorders MONDO:0015334 branchial arch or oral-acral syndrome biolink:Disease mondo UMLS:CN199364|Orphanet:139036 UMLS:CN199364|ORPHA:139036 http://purl.obolibrary.org/obo/MONDO_0015334 ordo_group_of_disorders MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency biolink:Disease mondo UMLS:CN204202|Orphanet:329255 UMLS:CN204202|http://identifiers.org/omim/615057|ORPHA:329255 http://purl.obolibrary.org/obo/MONDO_0017996 MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome biolink:Disease mondo Orphanet:3293|UMLS:CN204205 Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. UMLS:CN204205|ORPHA:3293 http://purl.obolibrary.org/obo/MONDO_0017997 ordo_malformation_syndrome MONDO:0017998 PLA2G6-associated neurodegeneration biolink:Disease mondo GARD:0012567|Orphanet:329303|ICD10:G23.0 Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene. ORPHA:329303 http://purl.obolibrary.org/obo/MONDO_0017998 neurodegeneration with brain iron accumulation caused by mutation in PLA2G6|plan|PLA2G6 neurodegeneration with brain iron accumulation ordo_group_of_disorders MONDO:0015339 adrenomyeloneuropathy biolink:Disease mondo SCTID:65389002|UMLS:C1527231|ICD10:E71.3|GARD:0010614|Orphanet:139399 Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. ORPHA:139399|SNOMEDCT:65389002|UMLS:C1527231 http://purl.obolibrary.org/obo/MONDO_0015339 AMN ordo_clinical_subtype MONDO:0015338 syndromic craniosynostosis biolink:Disease mondo UMLS:CN226660|Orphanet:139393 A craniosynostosis that is part of a larger syndrome. UMLS:CN226660|ORPHA:139393 http://purl.obolibrary.org/obo/MONDO_0015338 syndrome associated with craniosynostosis|syndromic craniosynostosis|syndrome associated with craniosynostosis ordo_group_of_disorders MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration biolink:Disease mondo Orphanet:329308|ICD10:G23.0|GARD:0010810 Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus. ORPHA:329308 http://purl.obolibrary.org/obo/MONDO_0017999 FAHN ordo_disease MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis biolink:Disease mondo UMLS:CN237438|Orphanet:329173 ORPHA:329173|UMLS:CN237438 http://purl.obolibrary.org/obo/MONDO_0017992 ordo_disease HGNC:9386 PRKAG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9386 MONDO:0017993 cerebral sinovenous thrombosis biolink:Disease mondo ICD10:I67.6|Orphanet:329217 A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents. ORPHA:329217 http://purl.obolibrary.org/obo/MONDO_0017993 CSVT ordo_disease MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency biolink:Disease mondo UMLS:CN204200|Orphanet:329249|ICD10:E66.8 UMLS:CN204200|ORPHA:329249 http://purl.obolibrary.org/obo/MONDO_0017994 ordo_disease MONDO:0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome biolink:Disease mondo UMLS:CN204201|Orphanet:329252 UMLS:CN204201|ORPHA:329252 http://purl.obolibrary.org/obo/MONDO_0017995 ordo_disease MONDO:0015333 progeroid syndrome biolink:Disease mondo DC:0000583|UMLS:CN199363|Orphanet:139033 A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. UMLS:CN199363|ORPHA:139033 http://purl.obolibrary.org/obo/MONDO_0015333 ordo_group_of_disorders MONDO:0015332 rare developmental defect with connective tissue involvement biolink:Disease mondo UMLS:CN199362|Orphanet:139030 UMLS:CN199362|ORPHA:139030 http://purl.obolibrary.org/obo/MONDO_0015332 ordo_group_of_disorders|obsoletion_candidate MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia biolink:Disease mondo OMIMPS:604772|Orphanet:3286|GARD:0004421|ICD10:I47.2|UMLS:C1631597|DOID:0060674|SCTID:419671004 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. SNOMEDCT:419671004|UMLS:C1631597|DOID:0060674|ORPHA:3286 http://purl.obolibrary.org/obo/MONDO_0017990 ventricular tachycardia, catecholaminergic polymorphic|syncopal paroxysmal tachycardia|double tachycardia induced by catecholamines|malignant paroxysmal ventricular tachycardia|stress-induced polymorphic ventricular tachycardia|polymorphic catecholergic ventricular tachycardia|catecholamine-induced polymorphic ventricular tachycardia|CPVT|familial polymorphic ventricular tachycardia|multifocal ventricular premature beats|bidirectional tachycardia induced by catecholamine ordo_disease|clingen|gard_rare MONDO:0015331 malformation syndrome with skin/mucosae involvement biolink:Disease mondo UMLS:CN199361|Orphanet:139027 UMLS:CN199361|ORPHA:139027 http://purl.obolibrary.org/obo/MONDO_0015331 ordo_group_of_disorders HGNC:9388 PRKAR1A biolink:OntologyClass mondo http://identifiers.org/hgnc/9388 MONDO:0017991 Takayasu arteritis biolink:Disease mondo NCIT:C35062|DOID:2508|MESH:D013625|NCIT:C34391|EFO:1001857|ICD10:M31.4|ICD9:446.7|UMLS:C0039263|GARD:0007730|MedDRA:10043097|OMIM:207600|COHD:440740|SCTID:239937004|Orphanet:3287 Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. DOID:2508|MEDDRA:10043097|http://identifiers.org/omim/207600|ORPHA:3287|NCIT:C35062|SNOMEDCT:239937004|UMLS:C0039263|NCIT:C34391|MESH:D013625 http://purl.obolibrary.org/obo/MONDO_0017991 idiopathic aortitis|pharyngeal arch artery syndromic disease|Takayasu arteritis|Takayasu disease|pulseless disease|aortic arch arteritis|Young female arteritis|TA|Takayasu's disease|aortic Arch syndrome|Takayasu's arteritis ordo_disease MONDO:0015330 overgrowth/obesity syndrome biolink:Disease mondo UMLS:CN199360|Orphanet:139024 UMLS:CN199360|ORPHA:139024 http://purl.obolibrary.org/obo/MONDO_0015330 ordo_group_of_disorders MONDO:0003359 myxoid leiomyosarcoma biolink:Disease mondo NCIT:C3701|UMLS:C0205816|DOID:5268|ICDO:8896/3 A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. UMLS:C0205816|NCIT:C3701|DOID:5268 http://purl.obolibrary.org/obo/MONDO_0003359 myxoid leiomyosarcoma (morphologic abnormality)|myxoid leiomyosarcoma NCBITaxon:213115 Desulfovibrionales organism taxon mondo GC_ID:11|PMID:16403855 http://purl.obolibrary.org/obo/NCBITaxon_213115 MONDO:0003355 ovary leiomyosarcoma biolink:Disease mondo UMLS:C1335163|DOID:5263|EFO:0006718|NCIT:C5234 An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5234|UMLS:C1335163|DOID:5263 http://purl.obolibrary.org/obo/MONDO_0003355 leiomyosarcoma of ovary|ovarian leiomyosarcoma|leiomyosarcoma of the ovary|ovary leiomyosarcoma MONDO:0003356 epithelioid leiomyosarcoma biolink:Disease mondo NCIT:C3700|DOID:5264|ICDO:8891/3|UMLS:C0205815 A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. UMLS:C0205815|NCIT:C3700|DOID:5264 http://purl.obolibrary.org/obo/MONDO_0003356 epithelioid leiomyosarcoma CHEBI:25944 pesticide biolink:ChemicalSubstance mondo Strictly, a substance intended to kill pests. In common usage, any substance used for controlling, preventing, or destroying animal, microbiological or plant pests. http://purl.obolibrary.org/obo/CHEBI_25944 Pestizide|Pestizid|pesticide|pesticides MONDO:0003357 lung leiomyosarcoma biolink:Disease mondo NCIT:C5667|DOID:5265|UMLS:C1334448 An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5667|UMLS:C1334448|DOID:5265 http://purl.obolibrary.org/obo/MONDO_0003357 leiomyosarcoma of the lung|pulmonary leiomyosarcoma|lung leiomyosarcoma|leiomyosarcoma of lung MONDO:0003358 anus leiomyosarcoma biolink:Disease mondo UMLS:C1332267|DOID:5267|NCIT:C5599 An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5599|UMLS:C1332267|DOID:5267 http://purl.obolibrary.org/obo/MONDO_0003358 anal leiomyosarcoma|leiomyosarcoma of the anus|anus leiomyosarcoma|leiomyosarcoma of anus UBERON:0012193 phrenic vein biolink:AnatomicalEntity mondo The veins that run parallel to the phrenic arteries which include the two superior and two inferior phrenic veins. http://purl.obolibrary.org/obo/UBERON_0012193 MONDO:0003351 colon leiomyosarcoma biolink:Disease mondo UMLS:C1333093|NCIT:C5494|DOID:5259 An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5494|UMLS:C1333093|DOID:5259 http://purl.obolibrary.org/obo/MONDO_0003351 colon leiomyosarcoma|leiomyosarcoma of the colon|leiomyosarcoma of colon|colonic leiomyosarcoma MONDO:0003352 colon sarcoma biolink:Disease mondo NCIT:C5495|UMLS:C1333098|DOID:5260 A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. NCIT:C5495|UMLS:C1333098|DOID:5260 http://purl.obolibrary.org/obo/MONDO_0003352 colon sarcoma|sarcoma of colon|sarcoma of the colon|colonic sarcoma MONDO:0003353 heart leiomyosarcoma biolink:Disease mondo NCIT:C5364|DOID:5261|UMLS:C1332848 An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells. NCIT:C5364|DOID:5261|UMLS:C1332848 http://purl.obolibrary.org/obo/MONDO_0003353 leiomyosarcoma of heart|heart leiomyosarcoma|leiomyosarcoma of the heart|Cardiac leiomyosarcoma GO:1902742 apoptotic process involved in development biolink:OntologyClass mondo Any apoptotic process that is involved in anatomical structure development. http://purl.obolibrary.org/obo/GO_1902742 apoptosis signaling involved in anatomical structure development|programmed cell death by apoptosis involved in development of an anatomical structure|type I programmed cell death involved in development of an anatomical structure|apoptosis involved in development of an anatomical structure|induction of apoptosis involved in development of an anatomical structure|activation of apoptosis involved in development of an anatomical structure|commitment to apoptosis involved in development of an anatomical structure|apoptosis activator activity involved in development of an anatomical structure|type I programmed cell death involved in anatomical structure development|programmed cell death by apoptosis involved in anatomical structure development|apoptosis involved in anatomical structure development|signaling (initiator) caspase activity involved in development of an anatomical structure|apoptosis activator activity involved in anatomical structure development|commitment to apoptosis involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|induction of apoptosis involved in anatomical structure development|apoptotic programmed cell death involved in development of an anatomical structure|apoptotic program involved in development of an anatomical structure|induction of apoptosis by p53 involved in development of an anatomical structure|apoptotic process involved in development of an anatomical structure|apoptotic cell death involved in development of an anatomical structure|signaling (initiator) caspase activity involved in anatomical structure development|apoptotic program involved in anatomical structure development|apoptotic programmed cell death involved in anatomical structure development|induction of apoptosis by p53 involved in anatomical structure development|apoptosis signaling involved in development of an anatomical structure|apoptotic process involved in anatomical structure development|apoptotic cell death involved in anatomical structure development MONDO:0003354 heart sarcoma biolink:Disease mondo UMLS:C0238152|DOID:5262|NCIT:C7723 A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas. NCIT:C7723|UMLS:C0238152|DOID:5262 http://purl.obolibrary.org/obo/MONDO_0003354 cardiac sarcoma|heart sarcoma|Cardiac sarcoma|sarcoma of heart|sarcoma of the heart MONDO:0003350 granular cell leiomyosarcoma biolink:Disease mondo NCIT:C27494|UMLS:C1333871|DOID:5258 An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes. NCIT:C27494|DOID:5258|UMLS:C1333871 http://purl.obolibrary.org/obo/MONDO_0003350 granular cell leiomyosarcoma MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome biolink:Disease mondo UMLS:CN199356|GARD:0003994|Orphanet:1390|ICD10:Q87.8 This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). ORPHA:1390|UMLS:CN199356 http://purl.obolibrary.org/obo/MONDO_0015326 Hunter Thompson Reed syndrome|Hunter-Thompson-Reed syndrome ordo_malformation_syndrome|gard_rare MONDO:0017989 His bundle tachycardia biolink:Disease mondo ICD10:I47.1|ICD9:427.89|NCIT:C111646|SCTID:233901002|UMLS:C0039235|MESH:D013613|GARD:0002706|Orphanet:3283 His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality. MESH:D013613|SNOMEDCT:233901002|ORPHA:3283|NCIT:C111646|UMLS:C0039235 http://purl.obolibrary.org/obo/MONDO_0017989 JET|junctional ectopic tachycardia ordo_disease|gard_rare MONDO:0015325 cataract-deafness-hypogonadism syndrome biolink:Disease mondo MESH:C536626|ICD10:Q87.8|SCTID:722378009|Orphanet:1383 Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. ORPHA:1383|MESH:C536626|SNOMEDCT:722378009 http://purl.obolibrary.org/obo/MONDO_0015325 Schaap-Taylor-Baraitser syndrome ordo_malformation_syndrome MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome biolink:Disease mondo SCTID:715989002|MESH:C537009|Orphanet:1381|GARD:0000192|UMLS:C2931391|ICD10:Q87.8 Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. ORPHA:1381|SNOMEDCT:715989002|UMLS:C2931391|MESH:C537009 http://purl.obolibrary.org/obo/MONDO_0015324 Karandikar Maria Kamble syndrome|cataract intellectual disability anal atresia urinary defects|congenital cataract with multiple congenital anomalies in a sibship|Karandikar-Maria-Kamble syndrome|cataract mental retardation anal atresia urinary defects ordo_malformation_syndrome|gard_rare MONDO:0015323 teratogenic Pierre Robin syndrome biolink:Disease mondo UMLS:CN199294|Orphanet:138059 UMLS:CN199294|ORPHA:138059 http://purl.obolibrary.org/obo/MONDO_0015323 teratogenic Pierre Robin sequence ordo_group_of_disorders MONDO:0017985 congenital radioulnar synostosis biolink:Disease mondo ICD9:755.53|HP:0002974|SCTID:33313004|GARD:0004630|GARD:0010876|OMIM:179300|COHD:438851|ICD10:Q74.0|Orphanet:3269|MESH:C562408|DOID:9827 Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living. SNOMEDCT:33313004|MESH:C562408|UMLS:C0431795|DOID:9827|ORPHA:3269|http://identifiers.org/omim/179300 http://purl.obolibrary.org/obo/MONDO_0017985 radial-ulnar synostosis|radioulnar synostosis (disease)|proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius|radio-ulnar synostosis type 1|radioulnar synostosis|radioulnar fusion|radio-ulnar synostosis ordo_morphological_anomaly|gard_rare MONDO:0015329 malformation syndrome with short stature biolink:Disease mondo Orphanet:139021|SCTID:205808005|UMLS:CN199359 UMLS:CN199359|SNOMEDCT:205808005|ORPHA:139021 http://purl.obolibrary.org/obo/MONDO_0015329 congenital malformation syndrome and short stature|congenital malformation syndrome associated with short stature|malformation syndrome associated with short stature ordo_group_of_disorders MONDO:0017986 disorder of plasmalogens biosynthesis biolink:Disease mondo UMLS:CN237437|Orphanet:3276 UMLS:CN237437|ORPHA:3276 http://purl.obolibrary.org/obo/MONDO_0017986 ordo_group_of_disorders MONDO:0015328 obsolete rare bone development disorder biolink:Disease mondo Orphanet:139012|NCIT:C34432 Any of the forms of bone development disease that have a rare incidence. NCIT:C34432|ORPHA:139012 http://purl.obolibrary.org/obo/MONDO_0015328 rare skeletal development disorder|bone development disorder|rare bone development disease ordo_group_of_disorders|obsoletion_candidate MONDO:0017987 syringomyelia biolink:Disease mondo GARD:0007725|DOID:327|ICD10:Q06.4|COHD:378533|SCTID:111496009|NCIT:C85179|MESH:D013595|ICD10:G95.0|Orphanet:3280|MedDRA:10042928|UMLS:C0039144 Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS). MESH:D013595|DOID:327|SNOMEDCT:111496009|NCIT:C85179|ORPHA:3280|MEDDRA:10042928|UMLS:C0039144 http://purl.obolibrary.org/obo/MONDO_0017987 hydromyelia gard_rare|ordo_group_of_disorders MONDO:0015327 developmental anomaly of metabolic origin biolink:Disease mondo Orphanet:139009 ORPHA:139009 http://purl.obolibrary.org/obo/MONDO_0015327 ordo_group_of_disorders MONDO:0017988 multifocal atrial tachycardia (disease) biolink:Disease mondo HP:0011701|ICD9:427.89|UMLS:C0221158|SCTID:49982000|Orphanet:3282|ICD10:I47.1|GARD:0001235 Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. UMLS:C0221158|SNOMEDCT:49982000|ORPHA:3282 http://purl.obolibrary.org/obo/MONDO_0017988 multifocal atrial tachycardia|chaotic atrial tachycardia|MAT ordo_disease MONDO:0017981 syngnathia-cleft palate syndrome biolink:Disease mondo UMLS:CN204137|Orphanet:3263|GARD:0005091 UMLS:CN204137|ORPHA:3263 http://purl.obolibrary.org/obo/MONDO_0017981 syngnathia cleft palate ordo_malformation_syndrome MONDO:0017982 obsolete humeroradial synostosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017982 MONDO:0017983 humero-radio-ulnar synostosis biolink:Disease mondo Orphanet:3266|ICD10:Q74.0 Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated. ORPHA:3266 http://purl.obolibrary.org/obo/MONDO_0017983 humero-radio-ulnar fusion ordo_morphological_anomaly MONDO:0017984 familial lambdoid synostosis biolink:Disease mondo GARD:0003168|Orphanet:3267|UMLS:CN204142|ICD10:Q75.0|SCTID:766884000 Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure. UMLS:CN204142|ORPHA:3267|SNOMEDCT:766884000 http://purl.obolibrary.org/obo/MONDO_0017984 lambdoid synostosis|craniosynostosis, lambdoidal ordo_morphological_anomaly MONDO:0015322 Pierre Robin syndrome associated with bone disease biolink:Disease mondo UMLS:CN199293|Orphanet:138055 UMLS:CN199293|ORPHA:138055 http://purl.obolibrary.org/obo/MONDO_0015322 Pierre Robin sequence associated with bone disease ordo_group_of_disorders MONDO:0015321 Pierre Robin syndrome associated with branchial archs anomalies biolink:Disease mondo UMLS:CN199292|Orphanet:138050 UMLS:CN199292|ORPHA:138050 http://purl.obolibrary.org/obo/MONDO_0015321 Pierre Robin sequence associated with branchial archs anomalies ordo_group_of_disorders MONDO:0015320 Pierre Robin syndrome associated with a chromosomal anomaly biolink:Disease mondo Orphanet:138047|UMLS:CN199291 UMLS:CN199291|ORPHA:138047 http://purl.obolibrary.org/obo/MONDO_0015320 Pierre Robin sequence associated with a chromosomal anomaly ordo_group_of_disorders HGNC:9399 PRKCD biolink:OntologyClass mondo http://identifiers.org/hgnc/9399 MONDO:0017980 syngnathia multiple anomalies biolink:Disease mondo Orphanet:3262|GARD:0005092 ORPHA:3262 http://purl.obolibrary.org/obo/MONDO_0017980 syngnathia-multiple anomalies syndrome gard_rare|ordo_malformation_syndrome MONDO:0005989 toxoplasmosis biolink:Disease mondo DOID:9965|EFO:0007517|ICD9:130|ICD9:130.9|UMLS:C0040558|COHD:440653|ICD10:B58|ICD10:B58.9|NCIT:C3418|MESH:D014123|SCTID:187192000|ICD9:130.7 A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. NCIT:C3418|SNOMEDCT:187192000|MESH:D014123|UMLS:C0040558|DOID:9965 http://purl.obolibrary.org/obo/MONDO_0005989 Toxoplasma gondii disease or disorder|disseminated toxoplasmosis|Toxoplasma gondii infectious disease|Toxoplasma gondii caused disease or disorder MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma biolink:Disease mondo DOID:5194|NCIT:C42057|UMLS:C1517444 A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules. DOID:5194|NCIT:C42057|UMLS:C1517444 http://purl.obolibrary.org/obo/MONDO_0003326 ganglioneuroblastoma, intermixed (Schwannian Stroma-rich)|ganglioneuroblastoma, intermixed MONDO:0003327 peripheral ganglioneuroblastoma biolink:Disease mondo DOID:5195|NCIT:C6594|UMLS:C1335387 A ganglioneuroblastoma arising from the peripheral nervous system. DOID:5195|NCIT:C6594|UMLS:C1335387 http://purl.obolibrary.org/obo/MONDO_0003327 PNS ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma (disease)|ganglioneuroblastoma (disease) of peripheral nervous system|peripheral ganglioneuroblastoma MONDO:0005988 toxocariasis biolink:Disease mondo NCIT:C34758|MESH:D014120|EFO:0007516|ICD9:128.0|UMLS:C0040553|Orphanet:3343|ICD10:B83.0|GARD:0007788|SCTID:406619001|DOID:9790|MedDRA:10044269 A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections. MESH:D014120|SNOMEDCT:406619001|NCIT:C34758|UMLS:C0040553|MEDDRA:10044269|DOID:9790|ORPHA:3343 http://purl.obolibrary.org/obo/MONDO_0005988 Toxocara caused disease or disorder|Toxocara infection|infection by Toxascaris|visceral larva migrans|Toxocara disease or disorder|Toxocara infectious disease ordo_disease UBERON:0012180 head or neck skin biolink:AnatomicalEntity mondo A zone of skin that is part of a craniocervical region. http://purl.obolibrary.org/obo/UBERON_0012180 MONDO:0003328 fallopian tube adenomatoid tumor biolink:Disease mondo DOID:5196|UMLS:C1517110|NCIT:C40129 A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding. NCIT:C40129|DOID:5196|UMLS:C1517110 http://purl.obolibrary.org/obo/MONDO_0003328 fallopian tube adenomatoid tumor MONDO:0003329 ureteral obstruction (disease) biolink:Disease mondo HP:0006000|SCTID:20018005|ICD9:593.4|DOID:5199|MESH:D014517 Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy. MESH:D014517|DOID:5199|SNOMEDCT:20018005 http://purl.obolibrary.org/obo/MONDO_0003329 ureteral obstruction MONDO:0005985 Togaviridae infectious disease biolink:Disease mondo EFO:0007513|GARD:0007776|MESH:D014036|UMLS:C0040361 Virus diseases caused by the togaviridae. UMLS:C0040361|MESH:D014036 http://purl.obolibrary.org/obo/MONDO_0005985 Togaviridae disease or disorder|Togaviridae caused disease or disorder MONDO:0003322 epithelial predominant Wilms' tumor biolink:Disease mondo UMLS:C0279608|NCIT:C9146|DOID:5189 Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. DOID:5189|NCIT:C9146|UMLS:C0279608 http://purl.obolibrary.org/obo/MONDO_0003322 epithelial predominant renal Wilms' tumor|epithelial predominant kidney Wilms tumor|epithelial predominant renal Wilms tumor|epithelial predominant renal adenosarcoma|epithelial predominant kidney adenosarcoma|epithelial predominant Wilms tumor|epithelial predominant renal Wilm's tumor|epithelial predominant nephroblastoma MONDO:0005984 tinea pedis biolink:Disease mondo ICD9:110.4|DOID:12403|UMLS:C0040259|EFO:0007512|MESH:D014008|SCTID:6020002|COHD:133141|ICD10:B35.3 Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum. SNOMEDCT:6020002|UMLS:C0040259|DOID:12403|MESH:D014008 http://purl.obolibrary.org/obo/MONDO_0005984 pes dermatophytosis|athlete's foot|dermatophytosis of foot|ringworm of foot|dermatophytosis of pes MONDO:0003323 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003323 MONDO:0005987 toxascariasis biolink:Disease mondo UMLS:C0040522|EFO:0007515|DOID:3107|MESH:D017227 Infections with nematodes of the genus toxascaris. DOID:3107|UMLS:C0040522|MESH:D017227 http://purl.obolibrary.org/obo/MONDO_0005987 Toxascaris disease or disorder|Toxascaris infectious disease|Toxascaris caused disease or disorder MONDO:0003324 obsolete stromal predominant kidney Wilms' tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003324 MONDO:0005986 torovirus infectious disease biolink:Disease mondo EFO:0007514|MESH:D018176|UMLS:C0206607 Infections with viruses of the genus torovirus, family coronaviridae. UMLS:C0206607|MESH:D018176 http://purl.obolibrary.org/obo/MONDO_0005986 Torovirus infectious disease|Torovirus caused disease or disorder|Torovirus disease or disorder MONDO:0003325 nodular ganglioneuroblastoma biolink:Disease mondo NCIT:C42058|DOID:5193|UMLS:C1517445 A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules. DOID:5193|NCIT:C42058|UMLS:C1517445 http://purl.obolibrary.org/obo/MONDO_0003325 ganglioneuroblastoma, nodular MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type biolink:Disease mondo UMLS:CN679647|DOID:0080242|OMIM:301008 UMLS:CN679647|DOID:0080242|http://identifiers.org/omim/301008 http://purl.obolibrary.org/obo/MONDO_0030909 syndromic X-linked intellectual disability Hough type|mental retardation, X-linked, syndromic, HOUGE type; MRXSHG|intellectual disability, X-linked, syndromic, HOUGE type; MRXSHG|mental retardation, X-linked, syndromic, Houge type|MRXSHG|intellectual disability, X-linked, syndromic, Houge type|syndromic X-linked mental retardation Hough type MONDO:0005981 tick paralysis biolink:Disease mondo UMLS:C0040197|DOID:11285|MESH:D013985|SCTID:74225001|GARD:0007771|EFO:0007509 Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks. SNOMEDCT:74225001|UMLS:C0040197|MESH:D013985|DOID:11285 http://purl.obolibrary.org/obo/MONDO_0005981 gard_rare MONDO:0005980 tick infestation biolink:Disease mondo DOID:4109|UMLS:C0040196|MESH:D013984|EFO:0007508 Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks. DOID:4109|MESH:D013984|UMLS:C0040196 http://purl.obolibrary.org/obo/MONDO_0005980 Ixodoidea disease or disorder|Ixodoidea infectious disease|Ixodoidea caused disease or disorder MONDO:0030908 intellectual disability, X-linked, syndromic, 35 biolink:Disease mondo DOID:0080241|OMIM:300998 http://identifiers.org/omim/300998|DOID:0080241 http://purl.obolibrary.org/obo/MONDO_0030908 mental retardation, X-linked, syndromic, 35|MRXS35|intellectual disability, X-linked, syndromic, 35|syndromic X-linked mental retardation 35|syndromic X-linked intellectual disability 35|mental retardation, X-linked, syndromic, 35; MRXS35|intellectual disability, X-linked, syndromic, 35; MRXS35 MONDO:0005983 tinea favosa biolink:Disease mondo DOID:4336|NCIT:C35072|EFO:0007511|MESH:D014007|ICD10:B35|UMLS:C0040254|SCTID:85375000 A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles. DOID:4336|UMLS:C0040254|SNOMEDCT:85375000|MESH:D014007|NCIT:C35072 http://purl.obolibrary.org/obo/MONDO_0005983 favus MONDO:0003320 blastema predominant kidney Wilms tumor biolink:Disease mondo NCIT:C9147|UMLS:C0279609|DOID:5182 Wilms tumor of the kidney characterized by the predominance of the blastema component. DOID:5182|NCIT:C9147|UMLS:C0279609 http://purl.obolibrary.org/obo/MONDO_0003320 blastema predominant renal Wilm's tumor|blastema predominant Wilms tumor|blastema predominant kidney Wilms' tumor|blastema predominant nephroblastoma|blastema predominant kidney adenosarcoma|blastema predominant renal Wilms' tumor|blastema predominant renal Wilms tumor|blastema predominant kidney Wilms tumor|blastema predominant renal adenosarcoma MONDO:0005982 tinea infection biolink:Disease mondo EFO:0007510|NCIT:C112181|UMLS:C0040247 A skin infection caused by a fungus. UMLS:C0040247|NCIT:C112181 http://purl.obolibrary.org/obo/MONDO_0005982 ringworm|Tinea infectious disease|Tinea caused disease or disorder|Tinea disease or disorder|Tinea infection|Tinea MONDO:0003321 hereditary Wilms' tumor biolink:Disease mondo UMLS:C0677779|NCIT:C8496|DOID:5183 Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) DOID:5183|NCIT:C8496|UMLS:C0677779 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms' tumor|hereditary renal adenosarcoma|WT1|hereditary kidney adenosarcoma|familial Wilms tumor|hereditary nephroblastoma|familial Wilms' tumor|hereditary Wilms tumor MONDO:0015309 obsolete Auriculocondylar syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015309 MONDO:0030907 intellectual disability, X-linked 106 biolink:Disease mondo OMIM:300997|DOID:0080240 http://identifiers.org/omim/300997|DOID:0080240 http://purl.obolibrary.org/obo/MONDO_0030907 intellectual disability, X-linked 106|MRX106|mental retardation, X-linked 106; MRX106|intellectual disability, X-linked 106; MRX106|X-linked mental retardation 106|X-linked intellectual disability 106|mental retardation, X-linked 106 MONDO:0030906 Trichomonas tenax infectious disease biolink:Disease mondo DOID:0050270 An disease or disorder caused by infection with Trichomonas tenax. DOID:0050270 http://purl.obolibrary.org/obo/MONDO_0030906 Trichomonas tenax trichomoniasis|Trichomonas tenax caused disease or disorder|Trichomonas tenax disease or disorder MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest biolink:Disease mondo Orphanet:325638|UMLS:CN204125 UMLS:CN204125|ORPHA:325638 http://purl.obolibrary.org/obo/MONDO_0017978 syndrome with DSD of gynecological interest MONDO:0015315 neonatal brainstem dysfunction biolink:Disease mondo UMLS:CN199283|Orphanet:137929 Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported. ORPHA:137929|UMLS:CN199283 http://purl.obolibrary.org/obo/MONDO_0015315 ordo_disease MONDO:0015314 primary laryngeal lymphangioma biolink:Disease mondo SCTID:763617006|ICD10:D18.1|Orphanet:137926 Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated. ORPHA:137926|SNOMEDCT:763617006 http://purl.obolibrary.org/obo/MONDO_0015314 ordo_malformation_syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome biolink:Disease mondo MedDRA:10069521|ICD10:D89.82|ICD9:279.41|MESH:D056735|ICD10:D47.9|DOID:6688|GARD:0008686|Orphanet:3261|UMLS:C1328840|NCIT:C37864|CSP:1560-5548 Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. NCIT:C37864|MESH:D056735|DOID:6688|UMLS:C1328840|MEDDRA:10069521|ORPHA:3261 http://purl.obolibrary.org/obo/MONDO_0017979 ALPS|Canale-Smith syndrome|ALPS (autoimmune lymphoproliferative syndrome)|autoimmune lymphoproliferative syndrome type 1, autosomal dominant|FAS deficiency ordo_disease MONDO:0015313 choanal atresia, bilateral biolink:Disease mondo Orphanet:137920|UMLS:CN199281|ICD10:Q30.0 Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. ORPHA:137920|UMLS:CN199281 http://purl.obolibrary.org/obo/MONDO_0015313 ordo_clinical_subtype MONDO:0015312 choanal atresia, unilateral biolink:Disease mondo ICD10:Q30.0|UMLS:CN199280|Orphanet:137917 Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition. ORPHA:137917|UMLS:CN199280 http://purl.obolibrary.org/obo/MONDO_0015312 ordo_clinical_subtype MONDO:0015319 rare disease with Pierre Robin syndrome biolink:Disease mondo Orphanet:138044|UMLS:CN199290 UMLS:CN199290|ORPHA:138044 http://purl.obolibrary.org/obo/MONDO_0015319 obsoletion_candidate|ordo_group_of_disorders MONDO:0017974 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors biolink:Disease mondo Orphanet:325537|UMLS:CN227235 ORPHA:325537|UMLS:CN227235 http://purl.obolibrary.org/obo/MONDO_0017974 46,XY DSD induced by maternal-exposure to endocrine disruptors ordo_group_of_disorders MONDO:0015318 Pierre Robin syndrome associated with collagen disease biolink:Disease mondo Orphanet:138041|UMLS:CN199289 UMLS:CN199289|ORPHA:138041 http://purl.obolibrary.org/obo/MONDO_0015318 Pierre Robin sequence associated with collagen disease ordo_group_of_disorders MONDO:0017975 sex chromosome disorder of sex development biolink:Disease mondo MESH:D058533|Orphanet:325546 Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. ORPHA:325546|MESH:D058533 http://purl.obolibrary.org/obo/MONDO_0017975 Sex chromosome DSD ordo_group_of_disorders MONDO:0015317 laryngotracheal angioma biolink:Disease mondo ICD9:228.09|Orphanet:137935|ICD10:D18.0|SCTID:703199001|UMLS:C3839574 ORPHA:137935|SNOMEDCT:703199001|UMLS:C3839574 http://purl.obolibrary.org/obo/MONDO_0015317 ordo_disease MONDO:0017976 obsolete disorder of sex development of gynecological interest biolink:Disease mondo UMLS:CN227237|Orphanet:325620 ORPHA:325620|UMLS:CN227237 http://purl.obolibrary.org/obo/MONDO_0017976 DSD of gynecological interest MONDO:0015316 congenital laryngeal palsy biolink:Disease mondo GARD:0012713|ICD10:J38.0|Orphanet:137932|UMLS:C0396058 Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months. ORPHA:137932|UMLS:C0396058 http://purl.obolibrary.org/obo/MONDO_0015316 congenital vocal cord paralysis gard_rare|ordo_malformation_syndrome MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest biolink:Disease mondo UMLS:CN227238|Orphanet:325632 ORPHA:325632|UMLS:CN227238 http://purl.obolibrary.org/obo/MONDO_0017977 46,XY DSD of gynecological interest MONDO:0017970 46,XY disorder of sex development due to impaired androgen production biolink:Disease mondo Orphanet:325357|UMLS:CN227233 ORPHA:325357|UMLS:CN227233 http://purl.obolibrary.org/obo/MONDO_0017970 46,XY DSD due to impaired androgen production ordo_group_of_disorders MONDO:0017971 46,XY disorder of sex development due to a cholesterol synthesis defect biolink:Disease mondo UMLS:CN227234|Orphanet:325511 ORPHA:325511|UMLS:CN227234 http://purl.obolibrary.org/obo/MONDO_0017971 46,XY DSD due to a cholesterol synthesis defect ordo_group_of_disorders MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency biolink:Disease mondo ICD10:E25.0|Orphanet:325524 ORPHA:325524 http://purl.obolibrary.org/obo/MONDO_0017972 classic CLAH ordo_clinical_subtype MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency biolink:Disease mondo ICD10:E25.0|Orphanet:325529 ORPHA:325529 http://purl.obolibrary.org/obo/MONDO_0017973 ordo_clinical_subtype MONDO:0015311 autism-facial port-wine stain syndrome biolink:Disease mondo GARD:0010303|UMLS:CN199278|Orphanet:137911 This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions. ORPHA:137911|UMLS:CN199278 http://purl.obolibrary.org/obo/MONDO_0015311 autism with port-wine stain ordo_malformation_syndrome|gard_rare MONDO:0003319 scrotum neoplasm biolink:Disease mondo SCTID:126905005|NCIT:C4380|DOID:518|ICD9:187.7|ICD9:239.5|UMLS:C0341790|ICD10:C63.2 A benign or malignant neoplasm that affects the scrotum. NCIT:C4380|DOID:518|SNOMEDCT:126905005|UMLS:C0341790 http://purl.obolibrary.org/obo/MONDO_0003319 scrotum cancer|scrotal neoplasm|scrotal Ca|scrotal tumor|neoplasm of the scrotum|malignant tumor of scrotum|tumor of scrotum|scrotum neoplasm (disease)|malignant scrotal neoplasm|scrotum tumor|malignant tumour of scrotum|tumor of the scrotum|neoplasm of scrotum MONDO:0015310 syndromic optic nerve hypoplasia biolink:Disease mondo UMLS:CN226655|Orphanet:137905 ORPHA:137905|UMLS:CN226655 http://purl.obolibrary.org/obo/MONDO_0015310 ordo_group_of_disorders MONDO:0003337 acute hemorrhagic encephalitis biolink:Disease mondo DOID:5224|UMLS:C1332149|NCIT:C35796 Acute encephalitis that is characterized by bleeding. UMLS:C1332149|DOID:5224|NCIT:C35796 http://purl.obolibrary.org/obo/MONDO_0003337 acute hemorrhagic encephalitis MONDO:0030912 intellectual disability, autosomal dominant 47 biolink:Disease mondo UMLS:CN429988|OMIM:617635|Orphanet:502434|DOID:0080238 DOID:0080238|ORPHA:502434|http://identifiers.org/omim/617635|UMLS:CN429988 http://purl.obolibrary.org/obo/MONDO_0030912 autosomal dominant mental retardation 47|mental retardation, autosomal dominant 47|MRD47|mental retardation, autosomal dominant 47; MRD47|intellectual disability, autosomal dominant 47|STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome|autosomal dominant intellectual disability 47|intellectual disability, autosomal dominant 47; MRD47 ordo_malformation_syndrome MONDO:0005999 tuberculous empyema biolink:Disease mondo NCIT:C34575|EFO:0007528|DOID:14305|MESH:D004654|UMLS:C0014014|SCTID:14527007 An empyema resulting from infection by Mycobacterium tuberculosis. NCIT:C34575|DOID:14305|SNOMEDCT:14527007|MESH:D004654|UMLS:C0014014 http://purl.obolibrary.org/obo/MONDO_0005999 tuberculous empyema (& pleural) MONDO:0030911 intellectual disability, autosomal dominant 46 biolink:Disease mondo UMLS:CN371052|OMIM:617601|DOID:0080237 DOID:0080237|UMLS:CN371052|http://identifiers.org/omim/617601 http://purl.obolibrary.org/obo/MONDO_0030911 autosomal dominant mental retardation 46|mental retardation, autosomal dominant 46|intellectual disability, autosomal dominant 46|mental retardation, autosomal dominant 46; MRD46|MRD46|intellectual disability, autosomal dominant 46; MRD46|autosomal dominant intellectual disability 46 NCBITaxon:34353 Dipodascaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34353 anamorphic Dipodascaceae MONDO:0003338 obsolete von Economo disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003338 obsolete von Economo's disease MONDO:0030914 intellectual disability, autosomal dominant 49 biolink:Disease mondo DOID:0080234|OMIM:617752|UMLS:CN593636 DOID:0080234|http://identifiers.org/omim/617752|UMLS:CN593636 http://purl.obolibrary.org/obo/MONDO_0030914 intellectual disability, autosomal dominant 49|autosomal dominant mental retardation 49|autosomal dominant intellectual disability 49|mental retardation, autosomal dominant 49|intellectual disability, autosomal dominant 49; MRD49|MRD49|mental retardation, autosomal dominant 49; MRD49 MONDO:0003339 obsolete hepatoerythropoietic porphyria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003339 MONDO:0030913 intellectual disability, autosomal dominant 48 biolink:Disease mondo OMIM:617751|UMLS:CN580791|DOID:0080235|Orphanet:500159|EFO:0009156 DOID:0080235|ORPHA:500159|http://identifiers.org/omim/617751|UMLS:CN580791 http://purl.obolibrary.org/obo/MONDO_0030913 mental retardation, autosomal dominant 48; MRD48|microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom|intellectual disability, autosomal dominant 48|intellectual disability, autosomal dominant 48; MRD48|autosomal dominant mental retardation 48|autosomal dominant intellectual disability 48|mental retardation, autosomal dominant 48|MRD48 ordo_malformation_syndrome MONDO:0005996 trichuriasis biolink:Disease mondo GARD:0010720|DOID:1252|ICD10:B79|NCIT:C128399|EFO:0007524|COHD:196907|UMLS:C0040954|MESH:D014257|ICD9:127.3|SCTID:3752003 An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea. NCIT:C128399|SNOMEDCT:3752003|DOID:1252|UMLS:C0040954|MESH:D014257 http://purl.obolibrary.org/obo/MONDO_0005996 Trichuris trichiura caused disease or disorder|whipworm disease|trichuriasis infection|Trichuris trichiura disease or disorder|infection by Trichuris trichura|trichocephaliasis|Trichuris trichiura infection|Trichuris trichiura infectious disease|whipworm infection gard_rare MONDO:0003333 benign struma ovarii biolink:Disease mondo NCIT:C40012|DOID:5209|UMLS:C1511104 A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues. DOID:5209|UMLS:C1511104|NCIT:C40012 http://purl.obolibrary.org/obo/MONDO_0003333 struma ovarii, benign|benign struma ovarii MONDO:0005995 trichostrongylosis biolink:Disease mondo DOID:1254|EFO:0007523|ICD10:B81.2|UMLS:C0040948|SCTID:33710003|ICD9:127.6|MESH:D014253 Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin. SNOMEDCT:33710003|DOID:1254|UMLS:C0040948|MESH:D014253 http://purl.obolibrary.org/obo/MONDO_0005995 infection by Trichostrongylus|Trichostrongylus disease or disorder|Trichostrongylus infectious disease|Trichostrongyliasis|Trichostrongylus caused disease or disorder|infection by Trichostrongylus species MONDO:0003334 demyelinating polyneuropathy biolink:Disease mondo ICD9:356.9|DOID:5214|NCIT:C27062|SCTID:23414001|UMLS:C0270922 Polyneuropathy that is characterized by demyelination of axons. DOID:5214|UMLS:C0270922|SNOMEDCT:23414001|NCIT:C27062 http://purl.obolibrary.org/obo/MONDO_0003334 peripheral demyelinating neuropathy MONDO:0030910 intellectual disability, autosomal dominant 45 biolink:Disease mondo DOID:0080236|UMLS:CN368509|OMIM:617600 DOID:0080236|UMLS:CN368509|http://identifiers.org/omim/617600 http://purl.obolibrary.org/obo/MONDO_0030910 autosomal dominant mental retardation 45|intellectual disability, autosomal dominant 45|mental retardation, autosomal dominant 45|intellectual disability, autosomal dominant 45; MRD45|MRD45|mental retardation, autosomal dominant 45; MRD45|autosomal dominant intellectual disability 45 MONDO:0003335 chronic polyneuropathy biolink:Disease mondo UMLS:C1167650|DOID:5221|NCIT:C36071 Polyneuropathy that is persistent or long-standing in nature. DOID:5221|UMLS:C1167650|NCIT:C36071 http://purl.obolibrary.org/obo/MONDO_0003335 polyneuropathy, chronic MONDO:0005998 trombiculiasis biolink:Disease mondo EFO:0007526|MESH:D014323|DOID:8399|UMLS:C0041170 Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus. UMLS:C0041170|DOID:8399|MESH:D014323 http://purl.obolibrary.org/obo/MONDO_0005998 Trombiculidae disease or disorder|Trombiculidae infectious disease|Trombiculidae caused disease or disorder UBERON:0012172 stomach primordium biolink:AnatomicalEntity mondo A primordium that has the potential to develop into a stomach. http://purl.obolibrary.org/obo/UBERON_0012172 stomach endoderm MONDO:0003336 acute necrotizing encephalitis biolink:Disease mondo ICD9:049.8|NCIT:C35383|GARD:0013233|DOID:5222|SCTID:111897007|UMLS:C0338418 A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5) NCIT:C35383|DOID:5222|UMLS:C0338418|SNOMEDCT:111897007 http://purl.obolibrary.org/obo/MONDO_0003336 acute necrotizing encephalopathy|ANE|acute necrotizing encephalitis gard_rare MONDO:0005997 tricuspid valve stenosis biolink:Disease mondo HP:0010446|DOID:4078|EFO:0007525|UMLS:C0040963|MESH:D014264|SCTID:49915006 Narrowing or stricture of the tricuspid orifice of the heart. DOID:4078|SNOMEDCT:49915006|NCIT:C50783|UMLS:C0040963|MESH:D014264 http://purl.obolibrary.org/obo/MONDO_0005997 tricuspid stenosis MONDO:0005992 trichinosis biolink:Disease mondo ICD9:124|ICD10:B75|EFO:0007520|DOID:9784|NCIT:C85199 A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling. NCIT:C85199|DOID:9784 http://purl.obolibrary.org/obo/MONDO_0005992 Trichinella spiralis infection|Trichinella disease or disorder|Trichinellosis|Trichinella infectious disease|Trichinella caused disease or disorder MONDO:0030919 intellectual disability, autosomal dominant 53 biolink:Disease mondo DOID:0080228|EFO:0009165|OMIM:617798 DOID:0080228|http://identifiers.org/omim/617798 http://purl.obolibrary.org/obo/MONDO_0030919 mental retardation, autosomal dominant 53; MRD53|intellectual disability, autosomal dominant 53|mental retardation, autosomal dominant 53|MRD53|autosomal dominant intellectual disability 53|autosomal dominant mental retardation 53|intellectual disability, autosomal dominant 53; MRD53 MONDO:0005991 trench fever biolink:Disease mondo MedDRA:10044582|ICD10:A79.0|ICD9:083.1|SCTID:82214002|UMLS:C0040830|Orphanet:64694|MESH:D014205|EFO:0007519|DOID:11101 An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse. DOID:11101|UMLS:C0040830|MEDDRA:10044582|ORPHA:64694|MESH:D014205|SNOMEDCT:82214002 http://purl.obolibrary.org/obo/MONDO_0005991 quintan fever|trench fever|Bartonella quintana infectious disease|Bartonella quintana caused disease or disorder|bartonellosis due to Bartonella quintana infection|Bartonella quintana disease or disorder|fever, trench|trench fevers|Wolhynian fever|shin bone fever|tibialgic fever|His-Werner disease|fevers, trench ordo_disease UBERON:0012177 skin apocrine gland biolink:AnatomicalEntity mondo An apocrine gland that is part of a skin of body. http://purl.obolibrary.org/obo/UBERON_0012177 MONDO:0003330 urinary tract obstruction biolink:Disease mondo SCTID:7163005|DOID:5200|ICD10:N13.9|COHD:194406|ICD9:599.6|UMLS:C0178879|NCIT:C3675|ICD9:599.60 Blockage of the normal flow of contents of the urinary tract. SNOMEDCT:7163005|UMLS:C0178879|NCIT:C79805|NCIT:C3675|DOID:5200 http://purl.obolibrary.org/obo/MONDO_0003330 urinary obstruction|obstructive uropathy MONDO:0003331 ovarian monodermal teratoma biolink:Disease mondo DOID:5207|NCIT:C7286|UMLS:C1302569 A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer. UMLS:C1302569|NCIT:C7286|DOID:5207 http://purl.obolibrary.org/obo/MONDO_0003331 monodermal teratoma|ovarian monodermal teratoma|monodermal teratoma (morphologic abnormality) MONDO:0005994 trichostrongyloidiasis biolink:Disease mondo DOID:1255|MESH:D014252|EFO:0007522|UMLS:C0040947 Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus. DOID:1255|UMLS:C0040947|MESH:D014252 http://purl.obolibrary.org/obo/MONDO_0005994 Trichostrongyloidea infectious disease|Trichostrongyloidea caused disease or disorder|Trichostrongyloidea disease or disorder MONDO:0005993 Trichomonas vaginitis urogenital infection biolink:Disease mondo ICD10:A59.0|NCIT:C35083|DOID:0050269|ICD9:131.09|EFO:0007521|ICD9:131.00|SCTID:35089004|ICD10:A59.00|MESH:D014247 A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse. DOID:0050269|SNOMEDCT:35089004|MESH:D014247|NCIT:C35083 http://purl.obolibrary.org/obo/MONDO_0005993 urogenital trichomoniasis|urogenital Trichomonas|Trichomonas vaginalis trichomoniasis|Trichomonas vaginalis caused disease of genitourinary system|Trichomonas vaginitis|Trichomonas vaginalis disease of genitourinary system|urogenital infection by Trichomonas vaginalis|urogenital infection caused by Trichomonas vaginalis MONDO:0003332 malignant struma ovarii biolink:Disease mondo NCIT:C4291|ICDO:9090/3|UMLS:C0334525|DOID:5208 An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion). DOID:5208|NCIT:C4291|UMLS:C0334525 http://purl.obolibrary.org/obo/MONDO_0003332 struma ovarii, malignant (morphologic abnormality)|struma ovarii, malignant UBERON:0012175 acoustico-facial VII-VIII ganglion complex biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0012175 facio-acoustic VII-VIII ganglion complex|facio-acoustic ganglion|facio-acoustic ganglion complex VII-VIII|facio-acoustic ganglion complex|acousticofacial ganglion MONDO:0030916 intellectual disability, autosomal dominant 50 biolink:Disease mondo UMLS:CN671930|OMIM:617787|DOID:0080233 UMLS:CN671930|DOID:0080233|http://identifiers.org/omim/617787 http://purl.obolibrary.org/obo/MONDO_0030916 mental retardation, autosomal dominant 50|intellectual disability, autosomal dominant 50|autosomal dominant intellectual disability 50|autosomal dominant mental retardation 50|MRD50|mental retardation, autosomal dominant 50; MRD50|intellectual disability, autosomal dominant 50; MRD50 MONDO:0030915 intellectual disability, autosomal recessive 61 biolink:Disease mondo OMIM:617773|UMLS:CN651335|DOID:0080239 An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13. DOID:0080239|UMLS:CN651335|http://identifiers.org/omim/617773 http://purl.obolibrary.org/obo/MONDO_0030915 autosomal recessive mental retardation 61|mental retardation, autosomal recessive 61|mental retardation, autosomal recessive 61; MRT61|autosomal recessive intellectual disability 61|MRT61|Alwadei syndrome|intellectual disability, autosomal recessive 61|intellectual disability, autosomal recessive 61; MRT61 MONDO:0005990 tracheitis biolink:Disease mondo UMLS:C0040584|NCIT:C78643|MESH:D014136|UMLS:C0149513|DOID:9392|UMLS:C0264322|ICD9:464.1|SCTID:62994001|EFO:0007518|ICD10:J04.1 An inflammatory process affecting the wall of the trachea. UMLS:C0264322|UMLS:C0040584|DOID:9392|UMLS:C0149513|SNOMEDCT:62994001|NCIT:C78643|MESH:D014136 http://purl.obolibrary.org/obo/MONDO_0005990 tracheal Inflammation|acute tracheitis|chronic tracheitis|tracheal mucosa inflammation|inflammation of tracheal mucosa MONDO:0030918 intellectual disability, autosomal dominant 52 biolink:Disease mondo EFO:0009152|OMIM:617796|DOID:0080231|UMLS:CN671932 UMLS:CN671932|DOID:0080231|http://identifiers.org/omim/617796 http://purl.obolibrary.org/obo/MONDO_0030918 mental retardation, autosomal dominant 52; MRD52|mental retardation, autosomal dominant 52|MRD52|autosomal dominant mental retardation 52|intellectual disability, autosomal dominant 52; MRD52|autosomal dominant intellectual disability 52|intellectual disability, autosomal dominant 52 NCBITaxon:201174 Actinobacteria organism taxon mondo GC_ID:11|PMID:29458499|PMID:16280504|PMID:26654112|PMID:11837318 http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteriota|Actinobacteraeota|Actinobacteria|actinobacteria MONDO:0030917 intellectual disability, autosomal dominant 51 biolink:Disease mondo OMIM:617788|DOID:0080232|UMLS:CN671931 UMLS:CN671931|DOID:0080232|http://identifiers.org/omim/617788 http://purl.obolibrary.org/obo/MONDO_0030917 autosomal dominant intellectual disability 51|mental retardation, autosomal dominant 51|intellectual disability, autosomal dominant 51|MRD51|autosomal dominant mental retardation 51|mental retardation, autosomal dominant 51; MRD51|intellectual disability, autosomal dominant 51; MRD51 MONDO:0015304 arachnoiditis biolink:Disease mondo Orphanet:137817|UMLS:C0270617|NCIT:C37913|MESH:D001100|ICD10:G03|MedDRA:10003074|SCTID:13980006|ICD10:G03.9|UMLS:C0003708|GARD:0005839|DOID:12156 Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems. NCIT:C37913|UMLS:C0003708|MESH:D001100|ORPHA:137817|UMLS:C0270617|MEDDRA:10003074|DOID:12156|SNOMEDCT:13980006 http://purl.obolibrary.org/obo/MONDO_0015304 inflammation of arachnoid mater|chronic arachnoiditis|adhesive arachnoiditis|arachnoid mater inflammation ordo_disease MONDO:0017967 testicular agenesis biolink:Disease mondo GARD:0005819|SCTID:371015003|Orphanet:325124|ICD10:Q55.0 SNOMEDCT:371015003|ORPHA:325124 http://purl.obolibrary.org/obo/MONDO_0017967 absence of testes|bilateral anorchia|anorchia|empty scrotum|congenital absence of testes ordo_morphological_anomaly MONDO:0017968 46,XY ovotesticular disorder of sex development biolink:Disease mondo SCTID:763683004|Orphanet:325345|UMLS:CN227231 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated. UMLS:CN227231|SNOMEDCT:763683004|ORPHA:325345 http://purl.obolibrary.org/obo/MONDO_0017968 46,XY ovotesticular DSD ordo_disease MONDO:0015303 macular amyloidosis biolink:Disease mondo Orphanet:137814|ICD10:E85.4+|ICD10:L99.0*|UMLS:C0544839 Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis. UMLS:C0544839|ORPHA:137814 http://purl.obolibrary.org/obo/MONDO_0015303 ordo_disease MONDO:0015302 nodular cutaneous amyloidosis biolink:Disease mondo ICD10:L99.0*|Orphanet:137810|UMLS:C0546394|GARD:0010562|ICD10:E85.4+|MedDRA:10056953|UMLS:C4274331|SCTID:716704007 Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome. UMLS:C4274331|SNOMEDCT:716704007|ORPHA:137810|UMLS:C0546394|MEDDRA:10056953 http://purl.obolibrary.org/obo/MONDO_0015302 primary localized cutaneous nodular amyloidosis|amyloidosis nodular localized cutaneous|NLCA|PLCNA|amyloidosis cutis nodularis atrophicans ordo_disease|gard_rare MONDO:0017969 46,XY disorder of sex development of endocrine origin biolink:Disease mondo Orphanet:325351|UMLS:CN227232 UMLS:CN227232|ORPHA:325351 http://purl.obolibrary.org/obo/MONDO_0017969 46,XY DSD of endocrine origin ordo_group_of_disorders MONDO:0015301 primary cutaneous amyloidosis biolink:Disease mondo ICD10:E85.4+|UMLS:C0268397|Orphanet:137807|MESH:C562642|ICD10:L99.0*|MedDRA:10011659|OMIMPS:105250|SCTID:282834007|DOID:0050639 Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis. ORPHA:137807|MEDDRA:10011659|DOID:0050639|MESH:C562642|UMLS:C0268397|SNOMEDCT:282834007 http://purl.obolibrary.org/obo/MONDO_0015301 primary localized cutaneous amyloidosis|PLCA|PCA|amyloidosis, primary localized cutaneous|familial primary localized cutaneous amyloidosis ordo_group_of_disorders MONDO:0015308 laminopathy type Decaudain-Vigouroux biolink:Disease mondo ICD10:E88.8|UMLS:C4518324|SCTID:724205009|Orphanet:137871 Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. UMLS:C4518324|SNOMEDCT:724205009|ORPHA:137871 http://purl.obolibrary.org/obo/MONDO_0015308 laminopathy with severe metabolic syndrome and myopathy ordo_disease MONDO:0017963 46,XX disorder of sex development induced by endogenous maternal-derived androgen biolink:Disease mondo Orphanet:325093|UMLS:CN227227|ICD10:Q56.2 ORPHA:325093|UMLS:CN227227 http://purl.obolibrary.org/obo/MONDO_0017963 46,XX DSD induced by endogenous maternal-derived androgen ordo_group_of_disorders MONDO:0015307 Madras motor neuron disease biolink:Disease mondo GARD:0010742|Orphanet:137867|UMLS:C0393551|ICD10:G12.2 Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. UMLS:C0393551|ORPHA:137867 http://purl.obolibrary.org/obo/MONDO_0015307 MMND ordo_disease MONDO:0017964 46,XX disorder of sex development induced by exogenous maternal-derived androgen biolink:Disease mondo UMLS:CN227228|ICD10:Q56.2|Orphanet:325099 ORPHA:325099|UMLS:CN227228 http://purl.obolibrary.org/obo/MONDO_0017964 46,XX DSD induced by exogenous maternal-derived androgen ordo_group_of_disorders MONDO:0015306 Lemierre syndrome biolink:Disease mondo Orphanet:137839|SCTID:52542005|MedDRA:10065552|ICD10:I80.8|DOID:11337|MESH:D057831|ICD9:040.3|GARD:0006882 Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis. MESH:D057831|ORPHA:137839|MEDDRA:10065552|UMLS:C0343525|DOID:11337|SNOMEDCT:52542005 http://purl.obolibrary.org/obo/MONDO_0015306 Lemierre postanginal sepsis|postanginal sepsis|acute sore throat|postanginal sepsis secondary to orophyngeal infection|Lemierre syndrome|septic phlebitis of the internal jugular vein|necrobacillosis|Lemierre's syndrome|oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein|human necrobacillosis gard_rare|ordo_disease MONDO:0017965 syndrome with 46,XX disorder of sex development biolink:Disease mondo Orphanet:325109|UMLS:CN204115 ORPHA:325109|UMLS:CN204115 http://purl.obolibrary.org/obo/MONDO_0017965 syndrome with 46,XX DSD ordo_group_of_disorders MONDO:0017966 46,XY disorder of gonadal development biolink:Disease mondo UMLS:CN227229|Orphanet:325118 UMLS:CN227229|ORPHA:325118 http://purl.obolibrary.org/obo/MONDO_0017966 ordo_group_of_disorders MONDO:0015305 obsolete rare endometriosis biolink:Disease mondo SCTID:237117005|Orphanet:137820|UMLS:C0404545 Rare endometriosis. ORPHA:137820|SNOMEDCT:237117005|UMLS:C0404545 http://purl.obolibrary.org/obo/MONDO_0015305 endometriosis outside pelvis|rare endometriosis|extrapelvic endometriosis|rare endometriosis (disease) ordo_disease|obsoletion_candidate MONDO:0017960 obsolete CANDLE syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017960 MONDO:0017961 46,XX disorder of gonadal development biolink:Disease mondo UMLS:CN227225|Orphanet:325055 ORPHA:325055|UMLS:CN227225 http://purl.obolibrary.org/obo/MONDO_0017961 ordo_group_of_disorders GO:0071214 cellular response to abiotic stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus. http://purl.obolibrary.org/obo/GO_0071214 cellular response to abiotic stress MONDO:0017962 46,XX disorder of sex development induced by fetoplacental androgens excess biolink:Disease mondo Orphanet:325061|UMLS:CN227226 ORPHA:325061|UMLS:CN227226 http://purl.obolibrary.org/obo/MONDO_0017962 46,XX DSD induced by fetoplacental androgens excess ordo_group_of_disorders MONDO:0015300 cataract - microcornea syndrome biolink:Disease mondo ICD10:Q13.8|Orphanet:1377|MESH:C538287|GARD:0001155 Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. MESH:C538287|ORPHA:1377|UMLS:C1861829 http://purl.obolibrary.org/obo/MONDO_0015300 cataract microcornea syndrome|microcornea cataract syndrome gard_rare|ordo_malformation_syndrome UBERON:0000199 neck of radius biolink:AnatomicalEntity mondo The narrow part of the shaft of the radius just below the head. http://purl.obolibrary.org/obo/UBERON_0000199 radial neck|collum radii ECTO:0000509 drug exposure biolink:OntologyClass mondo An exposure to drug. http://purl.obolibrary.org/obo/ECTO_0000509 exposure to drug GO:0009411 response to UV biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. http://purl.obolibrary.org/obo/GO_0009411 response to ultraviolet light stimulus|response to UV light stimulus|response to ultraviolet radiation stimulus|response to UV radiation stimulus UBERON:0002401 visceral pleura biolink:AnatomicalEntity mondo The inner serous membrane of the pulmonary pleural. The visceral pleura lines the lungs. http://purl.obolibrary.org/obo/UBERON_0002401 pleura visceralis (pulmonalis)|pleura visceralis|lung pleura|pulmonary visceral pleura|pulmonary pleura|pleura pulmonalis|lung mesothelium UBERON:0002400 parietal pleura biolink:AnatomicalEntity mondo The outer serous membrane of the pulmonary pleural. http://purl.obolibrary.org/obo/UBERON_0002400 pleura parietalis GO:0009416 response to light stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. http://purl.obolibrary.org/obo/GO_0009416 UBERON:0002402 pleural cavity biolink:AnatomicalEntity mondo The fluid-filled cavity that lies between the visceral and parietal pleurae. http://purl.obolibrary.org/obo/UBERON_0002402 cavitum pleuralae|cavitum pleurale|cavitas pleuralis ECTO:0000515 herbicide exposure biolink:OntologyClass mondo An exposure to herbicide. http://purl.obolibrary.org/obo/ECTO_0000515 exposure to herbicide ECTO:0000516 hormone exposure biolink:OntologyClass mondo An exposure to hormone. http://purl.obolibrary.org/obo/ECTO_0000516 exposure to hormone ECTO:0000522 mitochondrial respiratory-chain inhibitor exposure biolink:OntologyClass mondo An exposure to mitochondrial respiratory-chain inhibitor. http://purl.obolibrary.org/obo/ECTO_0000522 exposure to mitochondrial respiratory-chain inhibitor CHEBI:60242 monovalent inorganic cation biolink:ChemicalSubstance mondo An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. http://purl.obolibrary.org/obo/CHEBI_60242 a monovalent cation CHEBI:35238 amino acid zwitterion biolink:ChemicalSubstance mondo The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group. http://purl.obolibrary.org/obo/CHEBI_35238 amino acid zwitterion CHEBI:35230 fossil fuel biolink:ChemicalSubstance mondo A fuel such as coal, oil and natural gas which has formed over many years through the decomposition of deposited vegetation which was under extreme pressure of an overburden of earth. http://purl.obolibrary.org/obo/CHEBI_35230 fossil fuel CL:0002087 nongranular leukocyte biolink:Cell mondo FMA:62855 A leukocyte that lacks granules. http://purl.obolibrary.org/obo/CL_0002087 agranular leukocyte CHEBI:50860 organic molecular entity biolink:ChemicalSubstance mondo Any molecular entity that contains carbon. http://purl.obolibrary.org/obo/CHEBI_50860 organic entity|organic molecular entities|organic compounds MONDO:0005802 hymenolepiasis biolink:Disease mondo ICD9:123.6|Orphanet:401|DOID:10074|MedDRA:10020546|MESH:D006925|NCIT:C84768|ICD10:B71.0|UMLS:C0020413|UMLS:C0277045|EFO:0007317|GARD:0002787|SCTID:44917000 A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability. MEDDRA:10020546|SNOMEDCT:44917000|DOID:10074|MESH:D006925|NCIT:C84768|UMLS:C0020413|UMLS:C0277045|ORPHA:401 http://purl.obolibrary.org/obo/MONDO_0005802 Hymenolepsis infection|hymenolepiasis|Hymenolepis infectious disease|dwarf tapeworm infection ordo_disease|gard_rare MONDO:0005801 human T-lymphotropic virus 1 infectious disease biolink:Disease mondo GARD:0009645|UMLS:C0020097|EFO:0007316|MESH:D015490 A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. UMLS:C0020097|MESH:D015490 http://purl.obolibrary.org/obo/MONDO_0005801 Human T lymphotropic virus type 1|human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 caused disease or disorder|HTLV-1|Human T-lymphotropic virus 1 disease or disorder gard_rare MONDO:0005804 hyperprolactinemia (disease) biolink:Disease mondo UMLS:C0020514|HP:0000870|SCTID:237662005|MESH:D006966|ICD9:253.1|EFO:0007319|ICD10:E22.1|COHD:4030186 Abnormally high level of prolactin in the blood. NCIT:C113168|MESH:D006966|UMLS:C0020514|SNOMEDCT:237662005 http://purl.obolibrary.org/obo/MONDO_0005804 hyperprolactinaemia|syndrome, prolactin hypersecretion|hyperprolactinemias|inappropriate secretion prolactin|inappropriate prolactin secretion|hyperprolactinemia|secretion prolactin, inappropriate|prolactin secretion, inappropriate|prolactin, inappropriate secretion|secretion, inappropriate prolactin|hypersecretion syndrome, prolactin|inappropriate prolactin secretion syndrome|prolactin hypersecretion syndrome MONDO:0005803 hyperinsulinemic hypoglycemia (disease) biolink:Disease mondo SCTID:42681006|DOID:13317|HP:0000825|ICD10:E16.9|EFO:0007318 An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11. SNOMEDCT:42681006|DOID:13317 http://purl.obolibrary.org/obo/MONDO_0005803 hyperinsulinemic hypoglycemia|nesidioblastosis|islet cell hyperplasia|persistent hyperinsulinemia hypoglycemia of infancy NCBITaxon:83553 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_83553 UBERON:0002437 cerebral hemisphere white matter biolink:AnatomicalEntity mondo White matter that is part of a cerebral hemisphere. http://purl.obolibrary.org/obo/UBERON_0002437 cerebral white matter|region of cerebral white matter|substantia medullaris cerebri|cerebral hemisphere white matter|white matter structure of cerebral hemisphere|hemisphere white matter MONDO:0005800 hordeolum biolink:Disease mondo UMLS:C0019917|DOID:9909|SCTID:397513003|MESH:D006726|NCIT:C118722|EFO:0007315|ICD10:H00.01 An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess. UMLS:C0019917|MESH:D006726|DOID:9909|NCIT:C118722|SNOMEDCT:397513003 http://purl.obolibrary.org/obo/MONDO_0005800 blepharitis of eyelid gland|Stye|eyelid gland blepharitis|boil of eyelid|furuncle of eyelid CHEBI:35219 plant growth retardant biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35219 plant growth inhibitor|plant growth retardants|plant growth inhibitors CHEBI:50858 corticosteroid biolink:ChemicalSubstance mondo A natural or synthetic analogue of the hormones secreted by the adrenal gland. http://purl.obolibrary.org/obo/CHEBI_50858 corticosteroides|corticoides|corticosteroids HGNC:9305 PPP2R2B biolink:OntologyClass mondo http://identifiers.org/hgnc/9305 UBERON:0002445 ulnare biolink:AnatomicalEntity mondo The postaxial bone of the proximal carpal region. Found in close approximation to the ulna, often in articulation[PHENOSCAPE:ad]. http://purl.obolibrary.org/obo/UBERON_0002445 cuneiform of hand|triquetrum|triquetral bone|triangular|ulnar carpal bone|cuneiform bone of manus|triquetral|triangular bone|os ulnare|os triquetrum|cuneiform bone of hand UBERON:0002446 patella biolink:AnatomicalEntity mondo A large sesamoid bone found in the distal femur/proximal tibial region of the hindlimb of tetrapods. The patella is the attachment site for proximal hindlimb tendons.[PHENOSCAPE:ad] http://purl.obolibrary.org/obo/UBERON_0002446 knee cap|knee bone|patella CL:0002063 type II pneumocyte biolink:Cell mondo BTO:0000538|FMA:62501 A type II pneumocyte is a pneumocyte that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a type I pneumocyte. Thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli. http://purl.obolibrary.org/obo/CL_0002063 granular pneumocyte|cuboidal type II cell|great alveolar cell|type II alveolocyte|lung type II cell|TII|ATII|type 2 alveolar epithelial cell|type II alveolar cell|AT2|type 2 alveolocyte|type 2 pneumocyte|type II alveolar epithelial cell|lung type 2 cell HGNC:9302 PPP2R1A biolink:OntologyClass mondo http://identifiers.org/hgnc/9302 HGNC:9303 PPP2R1B biolink:OntologyClass mondo http://identifiers.org/hgnc/9303 UBERON:0002443 choroidal blood vessel biolink:AnatomicalEntity mondo A blood vessel that is part of a choroid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002443 blood vessel of posterior uvea|blood vessel of choroid coat|vasa sanguinea choroideae|choroid coat blood vessel|choroidea blood vessel|posterior uvea blood vessel|blood vessel of choroid|choroid blood vessels set|choroid blood vessel|set of choroid blood vessels|blood vessel of choroidea|choroid blood vessels CL:0002064 pancreatic acinar cell biolink:Cell mondo FMA:63032|CALOHA:TS-0737|BTO:0000028 A secretory cell found in pancreatic acini that secretes digestive enzymes and mucins. This cell is a typical zymogenic cell, have a basal nucleus and basophilic cytoplasm consisting of regular arrays of granular endoplasmic reticulum with mitochondria and dense secretory granules. http://purl.obolibrary.org/obo/CL_0002064 acinar cell of pancreas MONDO:0005813 interdigitating dendritic cell sarcoma biolink:Disease mondo SCTID:715664005|DOID:7848|ONCOTREE:IDCS|NCIT:C9282|MESH:D054739|EFO:0007329|ICDO:9757/3|ICD10:C96.4|ICDO:9757/1 A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008) DOID:7848|NCIT:C9282|SNOMEDCT:715664005|MESH:D054739 http://purl.obolibrary.org/obo/MONDO_0005813 interdigitating cell sarcoma|interdigitating Dendritic cell sarcoma|interdigitating cell sarcoma/tumor|interdigitating Dendritic cell sarcoma/tumor MONDO:0005812 influenza biolink:Disease mondo ICD10:J11.1|DOID:8469|MESH:D007251|ICD9:487|NCIT:C53482|EFO:0007328|SCTID:61700007|COHD:320752|ICD9:487.8 An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. SNOMEDCT:61700007|DOID:8469|NCIT:C53482|MESH:D007251 http://purl.obolibrary.org/obo/MONDO_0005812 influenza with non-respiratory manifestation|influenza infection|Influenza with other manifestations|flu MONDO:0005815 pancreatic neuroendocrine neoplasm biolink:Disease mondo EFO:0007331|GARD:0007311|ICD10:D13.7|NCIT:C27031|DOID:1799|ICD10:C25.4|Orphanet:506052|SCTID:254611009|ICDO:8150/1 A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade). ORPHA:506052|DOID:1799|SNOMEDCT:254611009|NCIT:C27031 http://purl.obolibrary.org/obo/MONDO_0005815 pancreatic NEN|pancreatic endocrine neoplasm|endocrine pancreas neoplasm|tumor of endocrine pancreas|malignant pancreatic endocrine tumor|islet cell tumour|PNEN|islet cell neoplasm|endocrine pancreas neoplasm (disease)|Islet cell tumors|pancreatic neuroendocrine neoplasm|neuroendocrine neoplasm of pancreas|Islet of Langerhans tumor|islet cell tumor|neoplasm of endocrine pancreas|endocrine pancreas cancer|endocrine pancreas tumor|malignant tumor of endocrine pancreas ordo_group_of_disorders HGNC:39080 KCNJ18 biolink:OntologyClass mondo http://identifiers.org/hgnc/39080 MONDO:0005814 intestinal cancer biolink:Disease mondo ICD10:C26.0|UMLS:C0346627|SCTID:363508008|MESH:D007414|EFO:0007330|DOID:10155|ICD9:159.0|NCIT:C4572 A malignant neoplasm involving the intestine DOID:10155|NCIT:C4572|UMLS:C0346627|SNOMEDCT:363508008|MESH:D007414 http://purl.obolibrary.org/obo/MONDO_0005814 bowel cancer|malignant intestinal neoplasm|intestine cancer|intestinal tumors, malignant|malignant neoplasm of intestine|malignant neoplasm of the intestine|intestinal cancer|intestinal neoplasms, malignant|malignant intestine tumor|malignant intestinal tumor|malignant intestinal neoplasms|malignant intestinal tumors|cancer of intestine|malignant tumor of the intestine|malignant tumor of intestine|malignant intestine neoplasm|cancer of the intestine CHEBI:50846 immunomodulator biolink:ChemicalSubstance mondo Biologically active substance whose activity affects or plays a role in the functioning of the immune system. http://purl.obolibrary.org/obo/CHEBI_50846 Immunological factor|immunomodulators|Immunologic factor|Immune factor|Biomodulator UBERON:0002427 arm skin biolink:AnatomicalEntity mondo A zone of skin that is part of an arm [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002427 skin of arm|brachial region skin UBERON:0002426 chest muscle biolink:AnatomicalEntity mondo Any muscle organ that is part of a chest [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002426 anterior thoracic region muscle organ|muscle organ of anterolateral part of thorax|muscle of thorax|muscle organ of chest|muscle organ of front of thorax|anterolateral part of thorax muscle organ|muscle organ of anterior thoracic region|musculus thoracicus|front of thorax muscle organ|chest muscle organ|thoracic muscle UBERON:0002429 cervical lymph node biolink:AnatomicalEntity mondo Cervical lymph nodes are lymph nodes found in the neck. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002429 lymph node of neck MONDO:0005811 infectious myxomatosis biolink:Disease mondo MESH:D009234|EFO:0007327|UMLS:C0027152 A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties. UMLS:C0027152|MESH:D009234 http://purl.obolibrary.org/obo/MONDO_0005811 MONDO:0005810 infectious mononucleosis biolink:Disease mondo UMLS:C0021345|ICD10:B27.0|COHD:437784|ICD10:B27|MESH:D007244|ICD9:075|DOID:8568|ICD10:B27.9|EFO:0007326|NCIT:C34726|SCTID:186668002 A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus. UMLS:C0021345|DOID:8568|SNOMEDCT:186668002|NCIT:C34726|MESH:D007244 http://purl.obolibrary.org/obo/MONDO_0005810 Filatov's disease|Gammaherpesviral mononucleosis|monocytic angina|Mono|mononucleosis|Pfeiffer's disease|glandular fever UBERON:0002428 limb bone biolink:AnatomicalEntity mondo A bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002428 bone of extremity|bone of limb|free limb bone CHEBI:35223 catalyst biolink:ChemicalSubstance mondo A substance that increases the rate of a reaction without modifying the overall standard Gibbs energy change in the reaction. http://purl.obolibrary.org/obo/CHEBI_35223 catalyseur|catalyst|Katalysator|catalizador CL:0002078 meso-epithelial cell biolink:Cell mondo FMA:69076 Epithelial cell derived from mesoderm or mesenchyme. http://purl.obolibrary.org/obo/CL_0002078 epithelial mesenchymal cell CL:0002077 ecto-epithelial cell biolink:Cell mondo FMA:69074 An epithelial cell derived from ectoderm. http://purl.obolibrary.org/obo/CL_0002077 CHEBI:35222 inhibitor biolink:ChemicalSubstance mondo A substance that diminishes the rate of a chemical reaction. http://purl.obolibrary.org/obo/CHEBI_35222 inhibitor|inhibiteur|inhibidor|inhibitors UBERON:0002434 pituitary stalk biolink:AnatomicalEntity mondo the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland http://purl.obolibrary.org/obo/UBERON_0002434 pituitary infundibular stalk|InfS|infundibulum neurohypophyseos|infundibulum of posterior lobe of pituitary gland|infundibular stem|infundibulum (lobus posterior) (glandula pituitaria)|infundibulum|THP|infundibular stem of neurohypophysis|infundibulum of hypothalamus|hypophyseal infundibulum|tuberal part of hypophysis|infundibular stem|hypophyseal stalk|infundibulum of neurohypophysis|hypophysial stalk|neurohypophysis infundibulum|pars tuberalis (hypophysis)|infundibulum of posterior lobe of pituitary gland|infundibulum hypophysis|infundibular stalk|infundibulum of pituitary gland|tuberal part of the hypophysis MONDO:0005809 infectious ectromelia biolink:Disease mondo MESH:D004482|EFO:0007325|UMLS:C0013591 A viral infection of mice, causing edema and necrosis followed by limb loss. MESH:D004482|UMLS:C0013591 http://purl.obolibrary.org/obo/MONDO_0005809 MONDO:0005806 hypopharynx cancer biolink:Disease mondo ICD10:C13|ICD9:148|DOID:8533|ICD10:C13.2|EFO:0007321|GARD:0009334|ICD9:148.9|ICD9:148.3|NCIT:C7190|SCTID:303012000|ICD10:C13.9|MESH:D007012 A primary or metastatic malignant neoplasm that affects the hypopharynx. NCIT:C7190|SNOMEDCT:303012000|DOID:8533|MESH:D007012 http://purl.obolibrary.org/obo/MONDO_0005806 hypopharyngeal cancer|malignant tumor of the hypopharynx|malignant tumor of hypopharynx|hypopharynx pharynx cancer|malignant neoplasm of hypopharynx NOS|pharynx cancer of hypopharynx|malignant neoplasm of hypopharynx|malignant hypopharyngeal tumor|malignant hypopharyngeal neoplasm|malignant neoplasm of other specified sites of hypopharynx|hypural pharynx cancer|malignant neoplasm of posterior wall of hypopharynx|malignant neoplasm of posterior hypopharyngeal wall|malignant neoplasm of the hypopharynx|malignant tumour of hypopharynx|malignant neoplasm of hypopharynx, NOS|malignant neoplasm of other specified hypopharyngeal site|malignant tumor of posterior wall of hypopharynx|malignant neoplasm of ill-defined sites within the lip and oral cavity MONDO:0005805 hypodermyiasis biolink:Disease mondo UMLS:C0020607|EFO:0007320|Orphanet:430|MESH:D007000|DOID:12926 Infestation with larvae of the genus Hypoderma, the warble fly. DOID:12926|UMLS:C0020607|ORPHA:430|MESH:D007000 http://purl.obolibrary.org/obo/MONDO_0005805 Oestridae infectious disease|Oestridae caused disease or disorder|Oestridae disease or disorder MONDO:0005808 inclusion conjunctivitis biolink:Disease mondo COHD:372550|DOID:13800|GARD:0006777|EFO:0007324|NCIT:C116817|UMLS:C0009770|ICD10:A74.0|MESH:D003235|ICD9:077.98|ICD9:077.0|SCTID:231861005 Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. NCIT:C116817|DOID:13800|SNOMEDCT:231861005|MESH:D003235|UMLS:C0009770 http://purl.obolibrary.org/obo/MONDO_0005808 adult inclusion conjunctivitis|Chlamydial conjunctivitis|Trachoma|inclusion blennorrhoea|neonatal Chlamydia conjunctivitis|Paratrachoma|inclusion blenorrhea gard_rare CHEBI:35221 antimetabolite biolink:ChemicalSubstance mondo A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization. http://purl.obolibrary.org/obo/CHEBI_35221 antimetabolites|antimetabolite CL:0002076 endo-epithelial cell biolink:Cell mondo FMA:69075 An epithelial cell derived from endoderm. http://purl.obolibrary.org/obo/CL_0002076 MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia biolink:Disease mondo NCIT:C84780|EFO:0007322|MESH:D018344|DOID:3109|UMLS:C0206744 A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections. DOID:3109|UMLS:C0206744|MESH:D018344|NCIT:C84780 http://purl.obolibrary.org/obo/MONDO_0005807 HGNC:9312 PPP2R5D biolink:OntologyClass mondo http://identifiers.org/hgnc/9312 UBERON:0002419 skin gland biolink:AnatomicalEntity mondo A gland that is part of a skin of body [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002419 glandulae cutis|set of skin glands|skin glands set|skin glands UBERON:0002416 integumental system biolink:AnatomicalEntity mondo Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. http://purl.obolibrary.org/obo/UBERON_0002416 body surface|organism surface|integumentary system|surface|external covering of organism|integumentum commune|dermal system UBERON:0002415 tail biolink:AnatomicalEntity mondo An external caudal extension of the body. In chordates, the tail is post-anal, in other animals the anus ends in the tail http://purl.obolibrary.org/obo/UBERON_0002415 caudal subdivision UBERON:0002418 cartilage tissue biolink:AnatomicalEntity mondo Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue|chondrogenic tissue|cartilage|cartilaginous tissue|portion of cartilage tissue|cartilages UBERON:0002417 abdominal segment of trunk biolink:AnatomicalEntity mondo The abdominal segment of the torso. http://purl.obolibrary.org/obo/UBERON_0002417 lower body|abdomen/pelvis/perineum|lumbar region|lower trunk UBERON:0014401 renal venous blood vessel biolink:AnatomicalEntity mondo Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. http://purl.obolibrary.org/obo/UBERON_0014401 kidney venous blood vessel|kidney venous system|venous blood vessel of kidney HGNC:27089 CARMIL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/27089 UBERON:0014400 hepatic sinusoidal space biolink:AnatomicalEntity mondo A sinusoidal space that is part of a hepatic sinusoid. http://purl.obolibrary.org/obo/UBERON_0014400 lumen of hepatic sinusoid CL:0002045 Fraction A pre-pro B cell biolink:Cell mondo A pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive. http://purl.obolibrary.org/obo/CL_0002045 pre pro B cell|fraction A CL:0002044 Kit-positive, integrin beta7-high basophil mast progenitor cell biolink:Cell mondo A basophil mast progenitor cell that is Beta-7 integrin-high, Kit-positive FcRgammaII/III-positive and Sca1-negative. http://purl.obolibrary.org/obo/CL_0002044 CL:0002047 Fraction B precursor B cell biolink:Cell mondo A precursor B cell that is CD45RA-positive, CD43-positive, CD24-positive and BP-1-negative. http://purl.obolibrary.org/obo/CL_0002047 Fr. B|Fraction B CL:0002049 Fraction C precursor B cell biolink:Cell mondo A precursor B cell is CD45R-positive, CD43-positive, CD24-positive, and BP-positive. Intracellularly expression of surrogate light chain, Rag1 and Rag2, TdT, occurs while there is no expression of mu heavy chain. http://purl.obolibrary.org/obo/CL_0002049 Fraction C UBERON:0002423 hepatobiliary system biolink:AnatomicalEntity mondo The part of the digestive system that contains the liver and the biliary system http://purl.obolibrary.org/obo/UBERON_0002423 hepaticobiliary system|liver/biliary system|liver and biliary system UBERON:0002422 fourth ventricle biolink:AnatomicalEntity mondo Part of the ventricular system of the brain, forming a single large irregularly shaped cavity located on the midline of the rhombencephalon, between the medulla, pons and the isthmus ventrally and the cerebellum dorsally. It is continuous with the cerebral aqueduct anteriorally and the central canal of the spinal cord posteriorly. It communicates with the subarachnoid space through its lateral and median apertures. http://purl.obolibrary.org/obo/UBERON_0002422 ventriculus quartus|4th ventricle|rhombencephalic vesicle|ventricle of hindbrain|fourth ventricle proper|rhombencephalic ventricle|ventricle IV|ventricle of rhombencephalon|IVth ventricle|hindbrain ventricle UBERON:0002425 visceral serous pericardium biolink:AnatomicalEntity mondo Visceral serous membrane which is continuous with the parietal serous pericardium and is attached to the myocardium[FMA]. http://purl.obolibrary.org/obo/UBERON_0002425 lamina visceralis pericardii serosi|visceral layer of serous pericardium|visceral lamina of serous pericardium|serous visceral pericardium|pericardium visceral mesothelium|visceral pericardium|epicardium UBERON:0002424 oral epithelium biolink:AnatomicalEntity mondo An epithelium that is part of the mouth and lines the oral cavity, typically stratified squamous, and may be para-, ortho- or non- keratinized. Primary barrier between oral environment and deeper tissues http://purl.obolibrary.org/obo/UBERON_0002424 epithelium of oral mucosa|epithelium of mucosa of mouth HGNC:9325 PPT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9325 UBERON:0002421 hippocampal formation biolink:AnatomicalEntity mondo Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. http://purl.obolibrary.org/obo/UBERON_0002421 seahorse|formatio hippocampi|archipallium|hippocampus|major hippocampus|primal cortex|hippocampus (Crosby) CL:0002043 CD34-positive, CD38-negative multipotent progenitor cell biolink:Cell mondo A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. http://purl.obolibrary.org/obo/CL_0002043 UBERON:0002409 pericardial fluid biolink:AnatomicalEntity mondo Transudate contained in the pericardial cavity.[FMA] http://purl.obolibrary.org/obo/UBERON_0002409 UBERON:0002408 parietal serous pericardium biolink:AnatomicalEntity mondo Parietal serous membrane which is part of the pericardium and forms the outer layer of the pericardial sac. http://purl.obolibrary.org/obo/UBERON_0002408 parietal layer of serous pericardium|pericardial sac|parietal pericardium|lamina parietalis pericardii|lamina parietalis (pericardii serosum) UBERON:0002405 immune system biolink:AnatomicalEntity mondo Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. http://purl.obolibrary.org/obo/UBERON_0002405 UBERON:0002407 pericardium biolink:AnatomicalEntity mondo The combination of pericardial sac (a double-walled sac containing the heart and the roots of the great vessels) plus fibrous pericardium. http://purl.obolibrary.org/obo/UBERON_0002407 UBERON:0002406 pericardial sac biolink:AnatomicalEntity mondo a double-walled sac containing the heart and the roots of the great vessels. http://purl.obolibrary.org/obo/UBERON_0002406 pericardium GO:0046434 organophosphate catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of organophosphates, any phosphate-containing organic compound. http://purl.obolibrary.org/obo/GO_0046434 organophosphate catabolism|organophosphate degradation|organophosphate breakdown NCBITaxon:71583 Balantidiidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_71583 CL:0002056 Fraction F mature B cell biolink:Cell mondo A mature B cell subset originally defined as having being CD45R-positive, IgM-positive, IgD-positive and CD43-negative. Subsequent research demonstrated being CD21-positive and CD23-negative and CD93 negative. http://purl.obolibrary.org/obo/CL_0002056 NCBITaxon:71585 Balantioides coli organism taxon mondo PMID:23556024|PMID:25185665|GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_71585 Balantidium coli|Neobalantidium coli|Paramecium coli NCBITaxon:71584 Balantidium organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_71584 HP:0031137 Storage in hepatocytes biolink:PhenotypicFeature mondo Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. http://purl.obolibrary.org/obo/HP_0031137 CL:0002059 CD8alpha-positive thymic conventional dendritic cell biolink:Cell mondo A conventional thymic dendritic cell that is CD8alpha-positive. http://purl.obolibrary.org/obo/CL_0002059 CD8alpha-alpha-positive thymic conventional dendritic cell|DC.8+.Th UBERON:0002412 vertebra biolink:AnatomicalEntity mondo The ossified form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0002412 vertebrae|vertebra bone UBERON:0002411 clitoris biolink:AnatomicalEntity mondo the small, erectile body located at the anterior end of the vulva http://purl.obolibrary.org/obo/UBERON_0002411 UBERON:0002414 lumbar vertebra biolink:AnatomicalEntity mondo Large vertebra of the movable part of the vertebral column, characterized by the absence of the foramen transversarium within the transverse process, and by the absence of facets on the sides of the body. http://purl.obolibrary.org/obo/UBERON_0002414 CL:0002050 Fraction C' precursor B cell biolink:Cell mondo A pre-BCR-positive precursor B cell that is CD24-high, CD25-positive, CD43-positive, CD45R-positive and BP-positive. http://purl.obolibrary.org/obo/CL_0002050 Fraction C-prime|Fr. C' UBERON:0002413 cervical vertebra biolink:AnatomicalEntity mondo A vertebra that is located in the cervical region of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0002413 vertebrae cervicales|cervical vertebrae HGNC:9330 PQBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9330 CL:0002052 Fraction D precursor B cell biolink:Cell mondo A pre-B cell that is pre-BCR-negative, and the kappa- and lambda- light immunoglobulin light chain-negative, CD43-low, and is BP-1-positive, CD45R-positive and CD25-positive. This cell type is also described as being AA4-positive, IgM-negative, CD19-positive, CD43-low/negative, and HSA-positive. http://purl.obolibrary.org/obo/CL_0002052 Fr. D|Fraction D pre-B cell UBERON:0002410 autonomic nervous system biolink:AnatomicalEntity mondo The autonomic nervous system is composed of neurons that are not under conscious control, and is comprised of two antagonistic components, the sympathetic and parasympathetic nervous systems. The autonomic nervous system regulates key functions including the activity of the cardiac (heart) muscle, smooth muscles (e.g. of the gut), and glands[GO]. http://purl.obolibrary.org/obo/UBERON_0002410 peripheral autonomic nervous system|divisio autonomica systematis nervosi peripherici|visceral nervous system|autonomic division of peripheral nervous system|ANS|autonomic part of peripheral nervous system|pars autonomica systematis nervosi peripherici|divisio autonomica systematis nervosi peripherici CL:0002054 Fraction E immature B cell biolink:Cell mondo An immature B cell that is IgM-positive, CD45R-positive, CD43-low, CD25-negative, and CD127-negative. This cell type has also been described as being AA4-positive, IgM-positive, CD19-positive, CD43-low/negative, and HSA-positive. http://purl.obolibrary.org/obo/CL_0002054 PATO:0000647 necrotic biolink:OntologyClass mondo A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death. http://purl.obolibrary.org/obo/PATO_0000647 CHEBI:62803 fuel additive biolink:ChemicalSubstance mondo Any additive that enhances the efficiency of fuel. http://purl.obolibrary.org/obo/CHEBI_62803 fuel enhancer|fuel additives ECTO:0000590 vasodilator agent exposure biolink:OntologyClass mondo An exposure to vasodilator agent. http://purl.obolibrary.org/obo/ECTO_0000590 exposure to vasodilator agent HGNC:40038 PET100 biolink:OntologyClass mondo http://identifiers.org/hgnc/40038 GO:0034440 lipid oxidation biolink:OntologyClass mondo The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. http://purl.obolibrary.org/obo/GO_0034440 MONDO:0015193 hydrops fetalis (disease) biolink:Disease mondo Orphanet:1041|ICD10:P56.0|SCTID:276508000|GARD:0002783|MedDRA:10020529|ICD10:P83.2|HP:0001789|GARD:0002301|ICD10:P56.9|NCIT:C84767|UMLS:C0020305 Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). NCIT:C84767|UMLS:C0020305|MESH:D015160|ORPHA:1041|SNOMEDCT:276508000|MEDDRA:10020529 http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis nonimmune|idiopathic hydrops fetalis|HF|hydrops fetalis|fetal hydrops|generalized fetal edema|fetal edema|fetal anasarca|familial non-immune hydrops fetalis gard_rare|ordo_malformation_syndrome MONDO:0015192 unclassified intestinal pseudoobstruction biolink:Disease mondo Orphanet:104078|UMLS:CN197532|ICD10:K59.8 UMLS:CN197532|ORPHA:104078 http://purl.obolibrary.org/obo/MONDO_0015192 ordo_etiological_subtype MONDO:0015191 myopathic intestinal pseudoobstruction biolink:Disease mondo Orphanet:104077|ICD10:K59.8 ORPHA:104077 http://purl.obolibrary.org/obo/MONDO_0015191 ordo_etiological_subtype MONDO:0015190 obsolete leiomyosarcoma of small intestine biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015190 GO:0010468 regulation of gene expression biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_0010468 regulation of protein expression|regulation of gene product expression GO:0010469 regulation of signaling receptor activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. http://purl.obolibrary.org/obo/GO_0010469 regulation of receptor activity HP:0008734 Decreased testicular size biolink:PhenotypicFeature mondo SNOMEDCT_US:276411001|UMLS:C0241355 Reduced volume of the testicle (the male gonad). http://purl.obolibrary.org/obo/HP_0008734 Decreased testicular size|Testicular hypoplasia|Small testes|Hypoplastic testes|Small testis GO:0010466 negative regulation of peptidase activity biolink:OntologyClass mondo Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins. http://purl.obolibrary.org/obo/GO_0010466 GO:0010467 gene expression biolink:OntologyClass mondo The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_0010467 MONDO:0015197 aneurysm of sinus of Valsalva biolink:Disease mondo Orphanet:1054|GARD:0000670|SCTID:54160000|ICD10:Q25.4|UMLS:CN197542|ICD9:747.29 Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated. UMLS:CN197542|SNOMEDCT:54160000|ORPHA:1054 http://purl.obolibrary.org/obo/MONDO_0015197 SVA|sinus of Valsalva aneurysm gard_rare|ordo_morphological_anomaly MONDO:0015196 vein of Galen aneurysm biolink:Disease mondo GARD:0005467|SCTID:253194008|Orphanet:1053|ICD10:Q28.2|UMLS:C0431420|MESH:C536535 Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization. UMLS:C0431420|ORPHA:1053|SNOMEDCT:253194008|MESH:C536535 http://purl.obolibrary.org/obo/MONDO_0015196 Galenic arteriovenous malformation|ectasia or varix of the vein of Galen|vein of Galen aneurysm malformation|VGAM|Galen vein aneurysm|vein of Galen arteriovenous malformations gard_rare|ordo_morphological_anomaly MONDO:0015195 atresia of urethra (disease) biolink:Disease mondo HP:0000068|MedDRA:10064895|SCTID:253902002|ICD10:Q64.3|Orphanet:105 Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. UMLS:C1610065|SNOMEDCT:253902002|UMLS:C0345345|ORPHA:105|MEDDRA:10064895 http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra|urethral atresia ordo_morphological_anomaly MONDO:0015194 sideroblastic anemia biolink:Disease mondo ICD10:D64.2|ICD10:D64.1|ICD10:D64.0|MedDRA:10040661|ICD9:285.0|OMIMPS:300751|SCTID:41841004|COHD:432282|GARD:0000667|NCIT:C36078|UMLS:C0002896|MESH:D000756|DOID:8955|Orphanet:1047|ICD10:D64.3 Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias. SNOMEDCT:41841004|NCIT:C36078|DOID:8955|ORPHA:1047|UMLS:C0002896|MEDDRA:10040661|MESH:D000756 http://purl.obolibrary.org/obo/MONDO_0015194 anemia, sideroblastic|anemia, hypochromic with iron loading|anemia sideroblastic|sideroblastic anemia ordo_group_of_disorders MONDO:0015199 aniridia - intellectual disability syndrome biolink:Disease mondo Orphanet:1068|GARD:0005530|MESH:C536568|UMLS:C2931243 Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. UMLS:C2931243|ORPHA:1068|MESH:C536568 http://purl.obolibrary.org/obo/MONDO_0015199 Walker Dyson syndrome|Walker-Dyson syndrome|aniridia associated with mental retardation and other eye abnormalities|aniridia associated with intellectual disability and other eye abnormalities ordo_malformation_syndrome MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome biolink:Disease mondo SCTID:720987001|Orphanet:1067|GARD:0000689|UMLS:CN226622 Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. SNOMEDCT:720987001|ORPHA:1067|UMLS:CN226622 http://purl.obolibrary.org/obo/MONDO_0015198 aniridia - ptosis - intellectual disability - familial obesity ordo_malformation_syndrome MONDO:0015182 congenital enteropathy involving intestinal mucosa development biolink:Disease mondo Orphanet:104007 ORPHA:104007 http://purl.obolibrary.org/obo/MONDO_0015182 ordo_group_of_disorders MONDO:0015181 congenital intestinal disease due to an enzymatic defect biolink:Disease mondo Orphanet:104006 ORPHA:104006 http://purl.obolibrary.org/obo/MONDO_0015181 ordo_group_of_disorders MONDO:0015180 intestinal disease due to fat malabsorption biolink:Disease mondo UMLS:CN197522|Orphanet:104005 UMLS:CN197522|ORPHA:104005 http://purl.obolibrary.org/obo/MONDO_0015180 ordo_group_of_disorders CHEBI:74818 heteroaryl hydroxy compound biolink:ChemicalSubstance mondo Any organic aromatic compound having one or more hydroxy groups attached to a heteroarene ring. http://purl.obolibrary.org/obo/CHEBI_74818 hetaryl hydroxy compounds|heteroaromatic hydroxy compound|heteroaromatic hydroxy compounds|hetaryl hydroxy compound|heteroaryl hydroxy compounds MONDO:0015186 obsolete rare tumor of intestine biolink:Disease mondo Orphanet:104011 Rare intestinal neoplasm. ORPHA:104011 http://purl.obolibrary.org/obo/MONDO_0015186 rare tumor of bowel|rare intestinal neoplasm|rare intestinal tumor ordo_group_of_disorders|obsoletion_candidate MONDO:0015185 intestinal polyposis syndrome biolink:Disease mondo UMLS:CN197525|MedDRA:10057018|Orphanet:104010|UMLS:C0345891|SCTID:254589009 MEDDRA:10057018|UMLS:CN197525|UMLS:C1257915|SNOMEDCT:254589009|UMLS:C0345891|ORPHA:104010 http://purl.obolibrary.org/obo/MONDO_0015185 ordo_group_of_disorders MONDO:0015184 obsolete rare disease involving intestinal motility biolink:Disease mondo UMLS:CN226620|Orphanet:104009 UMLS:CN226620|ORPHA:104009 http://purl.obolibrary.org/obo/MONDO_0015184 rare genetic intestinal motility disease obsoletion_candidate|ordo_group_of_disorders HGNC:30696 WDR36 biolink:OntologyClass mondo http://identifiers.org/hgnc/30696 MONDO:0015183 short bowel syndrome biolink:Disease mondo NCIT:C99059|ICD9:579.3|MedDRA:10049416|SCTID:26629001|UMLS:C0036992|DOID:10605|MESH:D012778|GARD:0001502|Orphanet:104008 Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. UMLS:C0036992|DOID:10605|MEDDRA:10049416|SNOMEDCT:26629001|ORPHA:104008|NCIT:C99059|MESH:D012778 http://purl.obolibrary.org/obo/MONDO_0015183 short gut syndrome|acquired short bowel syndrome gard_rare|ordo_group_of_disorders MONDO:0015189 obsolete adenocarcinoma of small instestine biolink:Disease mondo An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. http://purl.obolibrary.org/obo/MONDO_0015189 MONDO:0015188 metabolic disease with intestinal involvement biolink:Disease mondo UMLS:CN197528|Orphanet:104013 A metabolic disease that involves the intestine. UMLS:CN197528|ORPHA:104013 http://purl.obolibrary.org/obo/MONDO_0015188 intestine metabolic disease|metabolic disease of intestine ordo_group_of_disorders MONDO:0015187 obsolete rare inflammatory bowel disease biolink:Disease mondo Orphanet:104012 Rare inflammatory bowel disease. ORPHA:104012 http://purl.obolibrary.org/obo/MONDO_0015187 rare inflammatory bowel disease ordo_group_of_disorders|obsoletion_candidate HGNC:29683 SLC25A32 biolink:OntologyClass mondo http://identifiers.org/hgnc/29683 HGNC:29685 IARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29685 MONDO:0054782 leukodystrophy, hypomyelinating, 15 biolink:Disease mondo UMLS:CN244566|OMIM:617951 UMLS:CN244566|http://identifiers.org/omim/617951 http://purl.obolibrary.org/obo/MONDO_0054782 leukodystrophy, hypomyelinating, 15; HLD15|HLD15 MONDO:0054781 combined oxidative phosphorylation deficiency 36 biolink:Disease mondo UMLS:CN244569|OMIM:617950 UMLS:CN244569|http://identifiers.org/omim/617950 http://purl.obolibrary.org/obo/MONDO_0054781 COXPD36|combined oxidative phosphorylation deficiency 36; COXPD36 CHEBI:35294 carbopolycyclic compound biolink:ChemicalSubstance mondo A polyclic compound in which all of the ring members are carbon atoms. http://purl.obolibrary.org/obo/CHEBI_35294 carbopolycyclic compounds CHEBI:35293 fused compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35293 fused polycyclic compounds|fused-ring polycyclic compounds|fused-ring polycyclic compound|polycyclic fused-ring compounds|fused compounds MONDO:0054780 elliptocytosis 3 biolink:Disease mondo OMIM:617948|MESH:C566678 MESH:C566678|http://identifiers.org/omim/617948 http://purl.obolibrary.org/obo/MONDO_0054780 elliptocytosis 3; EL3|anemia, perinatal hemolytic, fatal or near-fatal|EL3 CHEBI:35296 ortho-fused polycyclic arene biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35296 ortho-fused polycyclic arenes CHEBI:35295 homopolycyclic compound biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compounds MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 biolink:Disease mondo UMLS:CN244567|OMIM:617954 http://identifiers.org/omim/617954|UMLS:CN244567 http://purl.obolibrary.org/obo/MONDO_0054785 multiple MITOCHONDRIAL dysfunctions syndrome 6; MMDS6|MMDS6 CHEBI:35297 acene biolink:ChemicalSubstance mondo A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/CHEBI_35297 Acen|polyacenes|Azen|acene|acenes ECTO:0000557 inhibitor exposure biolink:OntologyClass mondo An exposure to inhibitor. http://purl.obolibrary.org/obo/ECTO_0000557 exposure to inhibitor HGNC:30668 SRPX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30668 NCBITaxon:10624 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_10624 GO:0034404 nucleobase-containing small molecule biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. http://purl.obolibrary.org/obo/GO_0034404 nucleobase, nucleoside and nucleotide biosynthesis|nucleobase, nucleoside and nucleotide anabolism|nucleobase, nucleoside and nucleotide synthesis|nucleobase, nucleoside and nucleotide formation NCBITaxon:10629 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_10629 GO:0010455 positive regulation of cell fate commitment biolink:OntologyClass mondo Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/GO_0010455 HGNC:27030 DNAJC21 biolink:OntologyClass mondo http://identifiers.org/hgnc/27030 GO:0010453 regulation of cell fate commitment biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/GO_0010453 GO:0010454 negative regulation of cell fate commitment biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/GO_0010454 MONDO:0054771 keratoconus 9 biolink:Disease mondo UMLS:CN244547|OMIM:617928 http://identifiers.org/omim/617928|UMLS:CN244547 http://purl.obolibrary.org/obo/MONDO_0054771 KTCN9|keratoconus 9; KTCN9 MONDO:0054770 orofaciodigital syndrome 18 biolink:Disease mondo UMLS:CN244546|OMIM:617927 http://identifiers.org/omim/617927|UMLS:CN244546 http://purl.obolibrary.org/obo/MONDO_0054770 Ofds 18|OFD18|oral-Facial-digital syndrome, type 18|orofaciodigital syndrome XVIII; OFD18 MONDO:0054776 epilepsy, familial focal, with variable foci 4 biolink:Disease mondo OMIM:617935|UMLS:CN244552 http://identifiers.org/omim/617935|UMLS:CN244552 http://purl.obolibrary.org/obo/MONDO_0054776 FFEVF4|epilepsy, FAMILIAL focal, with variable foci 4; FFEVF4 ECTO:0000524 mycotoxin exposure biolink:OntologyClass mondo An exposure to mycotoxin. http://purl.obolibrary.org/obo/ECTO_0000524 exposure to mycotoxin PATO:0000627 localized biolink:OntologyClass mondo A spatial pattern quality inhering in a bearer by virtue of the bearer's being confined or restricted to a particular location. http://purl.obolibrary.org/obo/PATO_0000627 focal|localised ECTO:0000523 mutagen exposure biolink:OntologyClass mondo An exposure to mutagen. http://purl.obolibrary.org/obo/ECTO_0000523 exposure to mutagen ECTO:0000526 neurotransmitter exposure biolink:OntologyClass mondo An exposure to neurotransmitter. http://purl.obolibrary.org/obo/ECTO_0000526 exposure to neurotransmitter GO:0022411 cellular component disassembly biolink:OntologyClass mondo A cellular process that results in the breakdown of a cellular component. http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly at cellular level|cell structure disassembly HGNC:29669 IFT43 biolink:OntologyClass mondo http://identifiers.org/hgnc/29669 GO:0022410 circadian sleep/wake cycle process biolink:OntologyClass mondo A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. http://purl.obolibrary.org/obo/GO_0022410 GO:0022412 cellular process involved in reproduction in multicellular organism biolink:OntologyClass mondo A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism. http://purl.obolibrary.org/obo/GO_0022412 reproductive cellular process in multicellular organism HGNC:29666 MTFMT biolink:OntologyClass mondo http://identifiers.org/hgnc/29666 GO:0022414 reproductive process biolink:OntologyClass mondo A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/GO_0022414 single organism reproductive process HP:0008776 Abnormal renal artery morphology biolink:PhenotypicFeature mondo UMLS:C4024624 Any structural abnormality of the renal artery. http://purl.obolibrary.org/obo/HP_0008776 Abnormality of the renal artery|Abnormal kidney artery HGNC:30664 CLPB biolink:OntologyClass mondo http://identifiers.org/hgnc/30664 CHEBI:35274 ammonium ion derivative biolink:ChemicalSubstance mondo A derivative of ammonium, NH4(+), in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc). http://purl.obolibrary.org/obo/CHEBI_35274 ammonium ion derivatives|azanium ion derivative|azanium ion derivatives ECTO:0000530 pesticide exposure biolink:OntologyClass mondo An exposure to pesticide. http://purl.obolibrary.org/obo/ECTO_0000530 exposure to pesticide ECTO:0000537 toxin exposure biolink:OntologyClass mondo An exposure to toxin. http://purl.obolibrary.org/obo/ECTO_0000537 exposure to toxin GO:0022402 cell cycle process biolink:OntologyClass mondo The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. http://purl.obolibrary.org/obo/GO_0022402 HGNC:29679 PAM16 biolink:OntologyClass mondo http://identifiers.org/hgnc/29679 HGNC:29673 MFAP5 biolink:OntologyClass mondo http://identifiers.org/hgnc/29673 GO:0009450 gamma-aminobutyric acid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. http://purl.obolibrary.org/obo/GO_0009450 gamma-aminobutyric acid degradation|GABA catabolism|GABA catabolic process|4-aminobutanoate catabolism|4-aminobutyrate catabolism|gamma-aminobutyric acid breakdown|gamma-aminobutyric acid catabolism|4-aminobutyrate catabolic process|4-aminobutanoate catabolic process HGNC:29670 GNPTAB biolink:OntologyClass mondo http://identifiers.org/hgnc/29670 GO:0009448 gamma-aminobutyric acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. http://purl.obolibrary.org/obo/GO_0009448 4-aminobutanoate metabolism|GABA metabolic process|4-aminobutyrate metabolism|gamma-aminobutyric acid metabolism|4-aminobutyrate metabolic process|GABA metabolism|4-aminobutanoate metabolic process MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies biolink:Disease mondo OMIM:617967 http://identifiers.org/omim/617967 http://purl.obolibrary.org/obo/MONDO_0054794 hydrocephalus, CONGENITAL, 3, with brain anomalies; HYC3|hydrocephalus, nonsyndromic, autosomal recessive 3, formerly|hydrocephalus, nonsyndromic, autosomal recessive 3|HYC3 GO:0022404 molting cycle process biolink:OntologyClass mondo A multicellular organismal process involved in the periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin. http://purl.obolibrary.org/obo/GO_0022404 HGNC:17697 SARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17697 GO:0022406 membrane docking biolink:OntologyClass mondo The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. http://purl.obolibrary.org/obo/GO_0022406 membrane docking GO:0022405 hair cycle process biolink:OntologyClass mondo A multicellular organismal process involved in the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. http://purl.obolibrary.org/obo/GO_0022405 MONDO:0054791 leukodystrophy, hypomyelinating, 16 biolink:Disease mondo UMLS:CN244907|OMIM:617964 UMLS:CN244907|http://identifiers.org/omim/617964 http://purl.obolibrary.org/obo/MONDO_0054791 HLD16|leukodystrophy, hypomyelinating, 16; HLD16 GO:0022408 negative regulation of cell-cell adhesion biolink:OntologyClass mondo Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/GO_0022408 down regulation of cell-cell adhesion|inhibition of cell-cell adhesion|down-regulation of cell-cell adhesion|downregulation of cell-cell adhesion HGNC:30650 STRA6 biolink:OntologyClass mondo http://identifiers.org/hgnc/30650 GO:0022407 regulation of cell-cell adhesion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. http://purl.obolibrary.org/obo/GO_0022407 ECTO:0000544 antimicrobial agent exposure biolink:OntologyClass mondo An exposure to antimicrobial agent. http://purl.obolibrary.org/obo/ECTO_0000544 exposure to antimicrobial agent GO:0022409 positive regulation of cell-cell adhesion biolink:OntologyClass mondo Any process that activates or increases the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/GO_0022409 activation of cell-cell adhesion|upregulation of cell-cell adhesion|up regulation of cell-cell adhesion|stimulation of cell-cell adhesion|up-regulation of cell-cell adhesion ECTO:0000543 molecular messenger exposure biolink:OntologyClass mondo An exposure to molecular messenger. http://purl.obolibrary.org/obo/ECTO_0000543 exposure to molecular messenger MONDO:0003267 obsolete myxopapillary ependymoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003267 MONDO:0003268 mixed glioma biolink:Disease mondo SCTID:443937008|NCIT:C3903|DOID:5076|UMLS:C0259783|ICDO:9382/3 A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes). NCIT:C3903|SNOMEDCT:443937008|DOID:5076|UMLS:C0259783 http://purl.obolibrary.org/obo/MONDO_0003268 mixed glial tumor|glioma, mixed|mixed glioma|glioma, mixed, malignant|mixed gliomas|mixed neuroglial tumor|mixed neuroglial neoplasm|mixed glial neoplasm|mixed glioma (morphologic abnormality) MONDO:0003269 obsolete subependymal giant cell astrocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003269 NCBITaxon:46607 organism taxon mondo http://purl.obolibrary.org/obo/NCBITaxon_46607 MONDO:0003263 childhood cerebellar neoplasm biolink:Disease mondo NCIT:C5970|DOID:5059|UMLS:C1332959 A neoplasm that affects the cerebellum and occurs during childhood. NCIT:C5970|DOID:5059|UMLS:C1332959 http://purl.obolibrary.org/obo/MONDO_0003263 pediatric cerebellar tumor|childhood neoplasm of cerebellum|childhood neoplasm of the cerebellum|pediatric tumor of the cerebellum|childhood cerebellar neoplasm|childhood cerebellar tumors|pediatric tumor of cerebellum|pediatric neoplasm of cerebellum|childhood cerebellar tumor|pediatric neoplasm of the cerebellum|childhood tumor of cerebellum|childhood tumor of the cerebellum|childhood cerebellar neoplasms|pediatric cerebellar neoplasm MONDO:0003264 basosquamous carcinoma biolink:Disease mondo DOID:5063|NCIT:C2922|MESH:D002281|ICDO:8094/3|UMLS:C0007118|EFO:1000529 A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases. MESH:D002281|DOID:5063|NCIT:C2922|UMLS:C0007118 http://purl.obolibrary.org/obo/MONDO_0003264 basosquamous tumor, malignant|Basisquamous cell carcinoma|skin mixed basal and squamous cell carcinoma|basosquamous carcinoma|metatypical carcinoma (morphologic abnormality)|basosquamous cell carcinoma|metatypical carcinoma|skin basosquamous cell carcinoma MONDO:0003265 adjustment disorder biolink:Disease mondo ICD9:309.89|SCTID:17226007|DOID:507|NCIT:C92191|MESH:D000275|COHD:436677|ICD9:309|ICD9:309.9 A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present. SNOMEDCT:17226007|MESH:D000275|DOID:507|NCIT:C92191 http://purl.obolibrary.org/obo/MONDO_0003265 disorder, adjustment|adjustment reaction|disorders, reactive|disorder, reactive|adjustment disease|adaptation reaction|adjustment disorder|disorders, adjustment MONDO:0003266 ependymal tumor biolink:Disease mondo UMLS:C1333407|EFO:1000027|UMLS:CN203416|ICD10:C71.7|ONCOTREE:EPMT|NCIT:C6770|Orphanet:301 A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO) UMLS:CN203416|UMLS:C1333407|ORPHA:301|NCIT:C6770 http://purl.obolibrary.org/obo/MONDO_0003266 ependymal tumor|ependymomal tumor|ependymal neoplasm|ependymal tumors ordo_group_of_disorders MONDO:0003260 adult cerebellar neoplasm biolink:Disease mondo NCIT:C5968|DOID:5056|UMLS:C1332197 A cerebellar neoplasm that occurs in an adult. DOID:5056|UMLS:C1332197|NCIT:C5968 http://purl.obolibrary.org/obo/MONDO_0003260 adult cerebellar tumor|tumor of the adult cerebellum|adult cerebellar neoplasms|cerebellar neoplasm of adults|adult cerebellar neoplasm|tumor of adult cerebellum|neoplasm of adult cerebellum|adult cerebellar tumors|neoplasm of the adult cerebellum MONDO:0003261 papillary meningioma of the cerebellum biolink:Disease mondo UMLS:C1332902|NCIT:C5270|DOID:5057 A papillary meningioma that affects the cerebellum. DOID:5057|UMLS:C1332902|NCIT:C5270 http://purl.obolibrary.org/obo/MONDO_0003261 papillary meningioma of the cerebellum|papillary meningioma of cerebellum|cerebellar papillary meningioma|cerebellum papillary meningioma MONDO:0003262 rhabdoid meningioma biolink:Disease mondo UMLS:C0259786|NCIT:C6909|ONCOTREE:RHM|DOID:5058 A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets. DOID:5058|UMLS:C0259786|NCIT:C6909 http://purl.obolibrary.org/obo/MONDO_0003262 meningioma, rhabdoid|papillary meningioma|rhabdoid meningioma|papillary meningioma (morphologic abnormality)|meningioma, rhabdoid (morphologic abnormality) MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome biolink:Disease mondo GARD:0005036|UMLS:CN199165|Orphanet:1277|ICD10:Q87.8 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). ORPHA:1277|UMLS:CN199165 http://purl.obolibrary.org/obo/MONDO_0015259 Stratton-Garcia-Young syndrome|brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face|brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face gard_rare|ordo_malformation_syndrome MONDO:0015258 obsolete botulism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015258 MONDO:0015257 sino-auricular heart block biolink:Disease mondo Orphanet:1260|ICD10:I45.5|UMLS:CN199152 ORPHA:1260|UMLS:CN199152 http://purl.obolibrary.org/obo/MONDO_0015257 ordo_disease MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome biolink:Disease mondo GARD:0003482|Orphanet:1236|UMLS:CN237422 ORPHA:1236|UMLS:CN237422 http://purl.obolibrary.org/obo/MONDO_0015252 intellectual disability - athetosis - microphthalmia|severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome|BD syndrome|intellectual disability-athetosis-microphthalmia syndrome gard_rare|ordo_malformation_syndrome MONDO:0054860 deafness, autosomal recessive 110 biolink:Disease mondo OMIM:618094 http://identifiers.org/omim/618094 http://purl.obolibrary.org/obo/MONDO_0054860 deafness, autosomal recessive 110; DFNB110|DFNB110 HGNC:30764 TRAIP biolink:OntologyClass mondo http://identifiers.org/hgnc/30764 MONDO:0015251 obsolete balantidiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015251 NCBITaxon:34625 Hyalomma organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34625 HGNC:30765 TNIK biolink:OntologyClass mondo http://identifiers.org/hgnc/30765 MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome biolink:Disease mondo Orphanet:1217|MESH:C535625|GARD:0004942|UMLS:C2930956|ICD10:G12.2 Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. UMLS:C2930956|ORPHA:1217|MESH:C535625 http://purl.obolibrary.org/obo/MONDO_0015250 spinal atrophy ophthalmoplegia pyramidal syndrome|Hamano Tsukamoto syndrome|Hamano-Tsukamoto syndrome|infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms gard_rare|ordo_disease NCBITaxon:34622 Haemaphysalis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34622 MONDO:0015256 blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome biolink:Disease mondo Orphanet:1258 ORPHA:1258 http://purl.obolibrary.org/obo/MONDO_0015256 Rodini-Richieri Costa syndrome ordo_malformation_syndrome NCBITaxon:34620 Dermacentor andersoni organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34620 HGNC:30760 TMEM165 biolink:OntologyClass mondo http://identifiers.org/hgnc/30760 NCBITaxon:34621 Dermacentor variabilis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34621 American dog tick MONDO:0015255 blepharophimosis-radioulnar synostosis syndrome biolink:Disease mondo ICD10:Q87.2|UMLS:C2931162|MESH:C536292|Orphanet:1256|GARD:0003057 ORPHA:1256|MESH:C536292|UMLS:C2931162 http://purl.obolibrary.org/obo/MONDO_0015255 Jorgenson Lenz syndrome|mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis|ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism|blepharophimosis radioulnar synostosis|Jorgenson-Lenz syndrome ordo_malformation_syndrome MONDO:0015254 schistosomiasis biolink:Disease mondo GARD:0009687|MESH:D012552|ICD10:B65.2|MedDRA:10039603|ICD10:B65.3|ICD10:B65.1|ICD10:B65.0|Orphanet:1247|NCIT:C35000|UMLS:C0036323|EFO:1001475|ICD9:120.9|ICD10:B65.9|ICD9:120.8|ICD10:B65.8|DOID:1395|SCTID:10087007 An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic. MEDDRA:10039603|NCIT:C35000|SNOMEDCT:10087007|ORPHA:1247|MESH:D012552|UMLS:C0036323|DOID:1395 http://purl.obolibrary.org/obo/MONDO_0015254 schistosomiasis|Bilharzia|bilharziasis|snail fever ordo_disease MONDO:0054862 premature ovarian failure 15 biolink:Disease mondo OMIM:618096 http://identifiers.org/omim/618096 http://purl.obolibrary.org/obo/MONDO_0054862 premature ovarian failure 15; POF15|POF15 MONDO:0015253 Diamond-Blackfan anemia biolink:Disease mondo UMLS:C1260899|ICD10:D61.01|NCIT:C61236|Orphanet:124|DOID:1339|ICD10:D61.0|UMLS:C0265265|MESH:D029503|MedDRA:10062989|OMIMPS:105650|SCTID:88854002|GARD:0006274 A congenital aregenerative and often macrocytic anemia with erythroblastopenia. MESH:D029503|UMLS:C1260899|SNOMEDCT:88854002|UMLS:C0265265|ORPHA:124|NCIT:C61236|MEDDRA:10062989|DOID:1339 http://purl.obolibrary.org/obo/MONDO_0015253 Red cell aplasia, pure hereditary|congenital pure red cell aplasia|DBA|inherited erythroblastopenia|congenital hypoplastic anemia, Blackfan-Diamond type|Blackfan-Diamond anemia|chronic constitutional pure red cell anaemia|anemia congenital erythroid hypoplastic|Blackfan - Diamond syndrome|BDS|Aase syndrome|aregenerative anemia chronic congenital|congenital PRCA|erythrogenesis imperfecta|Blackfan Diamond syndrome|Aase-Smith II syndrome|congenital hypoplastic anemia|anemia Diamond Blackfan type clingen|ordo_disease MONDO:0054861 intellectual disability, autosomal recessive 63 biolink:Disease mondo OMIM:618095 http://identifiers.org/omim/618095 http://purl.obolibrary.org/obo/MONDO_0054861 intellectual disability, autosomal recessive 63; MRT63|mental retardation, autosomal recessive 63; MRT63|MRT63 MONDO:0054846 epilepsy, familial adult myoclonic, 6 biolink:Disease mondo OMIM:618074|UMLS:CN252655 http://identifiers.org/omim/618074|UMLS:CN252655 http://purl.obolibrary.org/obo/MONDO_0054846 benign Adult Familial myoclonic epilepsy 6|epilepsy, FAMILIAL ADULT myoclonic, 6; FAME6|FAME6|cortical myoclonic tremor with epilepsy, Familial, 6 MONDO:0054845 developmental and epileptic encephalopathy, 66 biolink:Disease mondo OMIM:618067|UMLS:CN252658 http://identifiers.org/omim/618067|UMLS:CN252658 http://purl.obolibrary.org/obo/MONDO_0054845 epileptic encephalopathy, early infantile, 66; EIEE66|DEE66|EIEE66|epileptic encephalopathy, early infantile, 66 MONDO:0054844 pontocerebellar hypoplasia, type 1d biolink:Disease mondo OMIM:618065|UMLS:CN252648 http://identifiers.org/omim/618065|UMLS:CN252648 http://purl.obolibrary.org/obo/MONDO_0054844 pontocerebellar hypoplasia, type 1D; PCH1D|PCH1D MONDO:0054843 ciliary dyskinesia, primary, 38 biolink:Disease mondo UMLS:CN252651|OMIM:618063 http://identifiers.org/omim/618063|UMLS:CN252651 http://purl.obolibrary.org/obo/MONDO_0054843 ciliary dyskinesia, PRIMARY, 38; CILD38|CILD38|ciliary dyskinesia, Primary, 38, with or without situs inversus MONDO:0003278 inner ear cancer biolink:Disease mondo DOID:5102 A malignant neoplasm involving the internal ear. DOID:5102 http://purl.obolibrary.org/obo/MONDO_0003278 cancer of internal ear|internal ear cancer|malignant neoplasm of internal ear|malignant internal ear neoplasm MONDO:0003279 testicular infarct biolink:Disease mondo UMLS:C0392041|SCTID:33793000|DOID:5104|NCIT:C27617 Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis. UMLS:C0392041|DOID:5104|SNOMEDCT:33793000|NCIT:C27617 http://purl.obolibrary.org/obo/MONDO_0003279 infarction of testis|testicular infarction MONDO:0054849 inflammatory bowel disease 29 biolink:Disease mondo OMIM:618077 http://identifiers.org/omim/618077 http://purl.obolibrary.org/obo/MONDO_0054849 IBD29|inflammatory bowel disease 29; IBD29 MONDO:0054847 epilepsy, familial adult myoclonic, 7 biolink:Disease mondo UMLS:CN252654|OMIM:618075 http://identifiers.org/omim/618075|UMLS:CN252654 http://purl.obolibrary.org/obo/MONDO_0054847 benign Adult Familial myoclonic epilepsy 7|FAME7|epilepsy, FAMILIAL ADULT myoclonic, 7; FAME7|cortical myoclonic tremor with epilepsy, Familial, 7 MONDO:0003274 thoracic cancer biolink:Disease mondo DOID:5093|ICD9:195.1|SCTID:188361007|ICD10:C76.1|NCIT:C3576|UMLS:C0153661 A primary or metastatic malignant neoplasm affecting the tissues of the thorax. UMLS:C0153661|NCIT:C3576|DOID:5093|SNOMEDCT:188361007 http://purl.obolibrary.org/obo/MONDO_0003274 malignant neoplasm of thorax|thoracic tumor|malignant neoplasm of the thorax|cancer of thoracic segment of trunk|tumor of thorax|thoracic segment of trunk cancer|malignant tumor of thorax|malignant neoplasm of thoracic segment of trunk|malignant thoracic segment of trunk neoplasm|malignant tumor of the thorax|thorax neoplasm|malignant thoracic neoplasm|malignant thoracic tumor|thorax cancer MONDO:0003275 middle ear cancer biolink:Disease mondo NCIT:C4765|SCTID:363359008|DOID:5099 A malignant neoplasm involving the middle ear NCIT:C4765|DOID:5099|SNOMEDCT:363359008 http://purl.obolibrary.org/obo/MONDO_0003275 tumor of the middle ear|malignant neoplasm of middle ear|malignant middle ear neoplasm|malignant neoplasm of the middle Ear|malignant middle Ear tumor|cancer of middle ear|middle ear cancer|neoplasm of middle ear|malignant tumor of middle Ear|malignant tumor of the middle Ear MONDO:0003276 middle ear disease biolink:Disease mondo UMLS:C0271428|COHD:374364|DOID:5100|NCIT:C27065|SCTID:68996008 A disease involving the middle ear. SNOMEDCT:68996008|UMLS:C0271428|DOID:5100|NCIT:C27065 http://purl.obolibrary.org/obo/MONDO_0003276 middle Ear disorder|middle ear disease or disorder|disorder of middle ear|disorder of middle ear|disease or disorder of middle ear|disease of middle ear|middle ear disease MONDO:0003277 malignant ear neoplasm biolink:Disease mondo UMLS:C0751094|MESH:D004428|NCIT:C9337|DOID:5101|SCTID:443648003 A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear. MESH:D004428|SNOMEDCT:443648003|DOID:5101|NCIT:C9337|UMLS:C0751094 http://purl.obolibrary.org/obo/MONDO_0003277 cancer of ear|malignant tumor of ear|malignant neoplasm of the Ear|malignant neoplasm of Ear|malignant Ear tumor|malignant neoplasm of ear|ear cancer|malignant Ear neoplasm|auricular cancer|malignant ear neoplasm|malignant tumor of the Ear|malignant tumor of Ear MONDO:0003270 obsolete ganglioglioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003270 MONDO:0003271 iodine hypothyroidism biolink:Disease mondo SCTID:190279008|DOID:5083|UMLS:C0154159|COHD:140062|ICD9:244.2 DOID:5083|UMLS:C0154159|SNOMEDCT:190279008 http://purl.obolibrary.org/obo/MONDO_0003271 MONDO:0003272 mixed epithelial stromal tumor biolink:Disease mondo DOID:5088 DOID:5088 http://purl.obolibrary.org/obo/MONDO_0003272 mixed epithelial stromal tumour MONDO:0003273 sternum cancer biolink:Disease mondo DOID:5090|UMLS:C1382025|NCIT:C8408 A malignant neoplasm involving the sternum DOID:5090|NCIT:C8408|UMLS:C1382025 http://purl.obolibrary.org/obo/MONDO_0003273 malignant tumor of sternum|neoplasm of sternum|neoplasm of sternum|sternal tumor|malignant neoplasm of sternum|malignant sternal tumor|malignant neoplasm of the sternum|sternum cancer|malignant sternum neoplasm|malignant sternal neoplasm|cancer of sternum|malignant tumor of the sternum MONDO:0015249 mitral atresia disorder biolink:Disease mondo ICD10:Q23.2|HP:0011560|NCIT:C98992|Orphanet:1205|GARD:0003685|SCTID:23063005 A congenital heart defect characterized by the complete atresia of the mitral valve. NCIT:C98992|ORPHA:1205|SNOMEDCT:23063005 http://purl.obolibrary.org/obo/MONDO_0015249 mitral atresia|mitral valve atresia|congenital atresia of mitral valve|congenital mitral valve atresia ordo_morphological_anomaly MONDO:0015248 ataxia-photosensitivity-short stature syndrome biolink:Disease mondo Orphanet:1184|UMLS:CN237421 Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. ORPHA:1184|UMLS:CN237421 http://purl.obolibrary.org/obo/MONDO_0015248 Fenton-Wilkinson-Toselano syndrome ordo_malformation_syndrome NCBITaxon:34619 Dermacentor organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34619 Anocentor MONDO:0015247 opsoclonus-myoclonus syndrome biolink:Disease mondo MedDRA:10053854|GARD:0010009|Orphanet:1183|UMLS:C0393626|NCIT:C4686|ICD9:379.59|ICD10:G25.3|SCTID:230350000|MESH:D053578|EFO:1001383 Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. UMLS:C0393626|NCIT:C4686|ORPHA:1183|MEDDRA:10053854|UMLS:C1096154|MESH:D053578|SNOMEDCT:230350000 http://purl.obolibrary.org/obo/MONDO_0015247 dancing eye-dancing feet syndrome|paraneoplastic opsoclonus-myoclonus|opsoclonus-myoclonus-ataxia syndrome|Ataxo-opso-myoclonus syndrome|dancing eye syndrome|oma syndrome|POMA syndrome|Kinsbourne syndrome|opsoclonus myoclonus syndrome|paraneoplastic opsoclonus-myoclonus-ataxia syndrome|OMS ordo_disease MONDO:0015246 syndromic anorectal malformation biolink:Disease mondo Orphanet:117573|UMLS:CN226645 A anorectal malformation that is part of a larger syndrome. UMLS:CN226645|ORPHA:117573 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation|syndrome associated with anorectal malformation|syndrome associated with anorectal malformation ordo_group_of_disorders MONDO:0015241 arthrogryposis-like syndrome biolink:Disease mondo ICD9:719.89|SCTID:702447002|Orphanet:1149|GARD:0000783|GARD:0003150 Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. SNOMEDCT:702447002|ORPHA:1149|http://identifiers.org/omim/208200 http://purl.obolibrary.org/obo/MONDO_0015241 Kuskokwim syndrome|arthrogryposis like disorder|Kuskokwim disease ordo_malformation_syndrome|gard_rare NCBITaxon:34613 Ixodes ricinus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34613 castor bean tick HGNC:17797 MAP3K20 biolink:OntologyClass mondo http://identifiers.org/hgnc/17797 MONDO:0015240 digitotalar dysmorphism biolink:Disease mondo Orphanet:1146|UMLS:C1852085|GARD:0000787|ICD10:Q68.8|UMLS:C0220662|UMLS:CN197602 Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis. UMLS:CN197602|ORPHA:1146|UMLS:C1852085|UMLS:C0220662 http://purl.obolibrary.org/obo/MONDO_0015240 distal arthrogryposis type 1|arthrogryposis multiplex congenita distal type 1|DA1|distal arthrogryposis type 1A (sub-type)|AMCD1|digitotalar dysmorphism|distal arthrogryposis type 1B (sub-type) gard_rare|ordo_malformation_syndrome NCBITaxon:129726 Pseudocowpox virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_129726 Pseudocowpoxvirus MONDO:0015245 obsolete rare intestinal disease biolink:Disease mondo Orphanet:117569 Rare intestinal disease. ORPHA:117569 http://purl.obolibrary.org/obo/MONDO_0015245 rare intestinal disease obsoletion_candidate|ordo_group_of_disorders MONDO:0015244 autosomal recessive cerebellar ataxia biolink:Disease mondo Orphanet:1172|UMLS:CN226644|DOID:0050950|OMIMPS:213200 Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. ORPHA:1172|UMLS:CN226644|DOID:0050950 http://purl.obolibrary.org/obo/MONDO_0015244 arca|cerebellar ataxia, autosomal recessive ordo_group_of_disorders MONDO:0054852 peeling skin syndrome 6 biolink:Disease mondo OMIM:618084 http://identifiers.org/omim/618084 http://purl.obolibrary.org/obo/MONDO_0054852 PSS6|peeling skin syndrome 6; PSS6 MONDO:0015243 allergic bronchopulmonary aspergillosis biolink:Disease mondo COHD:257583|NCIT:C84547|ICD10:B44.1+|GARD:0000602|EFO:0007140|UMLS:C0004031|ICD9:518.6|ICD10:J99.8*|SCTID:37981002|MESH:D001229|Orphanet:1164|OMIM:103920|DOID:13166|MedDRA:10006474|ICD10:B44.81 Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates. UMLS:C0004031|NCIT:C84547|http://identifiers.org/omim/103920|MESH:D001229|ORPHA:1164|MEDDRA:10006474|SNOMEDCT:37981002|DOID:13166 http://purl.obolibrary.org/obo/MONDO_0015243 Hinson-Pepys disease|aspergillosis, allergic bronchopulmonary|allergic bronchopulmonary aspergillosis, familial|pulmonary aspergillus disease|allergic aspergillosis|allergic bronchopulmonary mycosis|ABPA ordo_disease|gard_rare MONDO:0054850 ovarian dysgenesis 6 biolink:Disease mondo OMIM:618078 http://identifiers.org/omim/618078 http://purl.obolibrary.org/obo/MONDO_0054850 ovarian dysgenesis 6; ODG6|ODG6 MONDO:0015242 obsolete aspergillosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015242 MONDO:0003249 pineal gland cancer biolink:Disease mondo NCIT:C3573|ICD10:C75.3|DOID:5032|SCTID:363483004|ICD9:194.4 Abnormal malignant growth of the cells that comprise the pineal parenchyma. NCIT:C3573|DOID:5032|SNOMEDCT:363483004 http://purl.obolibrary.org/obo/MONDO_0003249 malignant neoplasm of pineal body|pineal body neoplasm|malignant tumor of the pineal gland|neoplasm of the pineal region|pineal body cancer|pinealoma|Pineocytic tumor|neoplasm of pineal gland|malignant pineal area tumor|malignant pineal body neoplasm|malignant pineal region tumor|malignant pineal region neoplasm|malignant neoplasm of pineal gland|malignant neoplasm of the pineal gland|malignant pineal gland tumor|malignant tumor of pineal gland|cancer of pineal body|tumor of the pineal region|malignant pineal gland neoplasm|malignant pineal area neoplasm GO:0071383 cellular response to steroid hormone stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. http://purl.obolibrary.org/obo/GO_0071383 MONDO:0003245 aflatoxin-related hepatocellular carcinoma biolink:Disease mondo DOID:5022|UMLS:C1332222|NCIT:C27922 A hepatocellular carcinoma that develops following exposure to aflatoxin. NCIT:C27922|DOID:5022|UMLS:C1332222 http://purl.obolibrary.org/obo/MONDO_0003245 aflatoxins-related hepatocellular cancer|aflatoxins-related hepatocellular carcinoma MONDO:0003246 sclerosing hepatic carcinoma biolink:Disease mondo DOID:5026|ICDO:8172/3|UMLS:C1266018|NCIT:C27388 An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae. NCIT:C27388|DOID:5026|UMLS:C1266018 http://purl.obolibrary.org/obo/MONDO_0003246 sclerosing hepatic carcinoma|scirrhous hepatocellular cancer|sclerosing hepatocellular carcinoma|scirrhous hepatocellular carcinoma MONDO:0003247 obsolete pineal parenchymal tumor of intermediate differentiation biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003247 MONDO:0003248 adult pineal parenchymal tumor biolink:Disease mondo DOID:5031|NCIT:C8273|UMLS:C0280794 A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults. UMLS:C0280794|DOID:5031|NCIT:C8273 http://purl.obolibrary.org/obo/MONDO_0003248 parenchymal tumor of adult pineal gland|pineal parenchymal cell neoplasm of adults|pineal parenchymal cell tumor|parenchymal tumor of the adult pineal gland|parenchymal neoplasm of adult pineal gland|parenchymal neoplasm of the adult pineal gland|adult pineal parenchymal cell neoplasm|adult pineal gland neoplasm|adult pineal parenchymal cell tumor|adult pineal gland tumor|adult pineal parenchymal tumor|adult pineal parenchymal neoplasm MONDO:0003241 central nervous system hemangioma biolink:Disease mondo UMLS:C1333957|NCIT:C7004|DOID:501 A hemangioma arising from the brain and spinal cord. UMLS:C1333957|DOID:501|NCIT:C7004 http://purl.obolibrary.org/obo/MONDO_0003241 hemangioma of the CNS|hemangioma of CNS|hemangioma of central nervous system|hemangioma of the central nervous system|central nervous system hemangioma MONDO:0003242 obsolete fibrolamellar carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003242 MONDO:0003243 hepatocellular clear cell carcinoma biolink:Disease mondo UMLS:C1333067|NCIT:C5754|ICDO:8174/3|DOID:5016 A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells. NCIT:C5754|UMLS:C1333067|DOID:5016 http://purl.obolibrary.org/obo/MONDO_0003243 clear cell hepatocellular cancer|hepatocellular clear cell carcinoma|clear cell hepatocellular carcinoma|clear cell carcinoma of liver cells|liver cell clear cell carcinoma|clear cell carcinoma of the liver cells MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor biolink:Disease mondo NCIT:C5449|UMLS:C1332893|DOID:502 A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO) NCIT:C5449|DOID:502|UMLS:C1332893 http://purl.obolibrary.org/obo/MONDO_0003244 soft tissue tumor of the CNS|soft tissue tumor of CNS|CNS soft tissue neoplasm|central nervous system soft tissue neoplasm|soft tissue neoplasm of the CNS|soft tissue neoplasm of CNS|mesenchymal, non-meningothelial tumor of central nervous system|central nervous system soft tissue tumor|CNS soft tissue tumor|mesenchymal, non-meningothelial tumor of the CNS|non-meningothelial mesenchymal tumor|mesenchymal, non-meningothelial tumor of CNS|mesenchymal non-meningothelial tumor of the central nervous system|soft tissue neoplasm of central nervous system|central nervous system mesenchymal, non-meningothelial neoplasm|soft tissue neoplasm of the central nervous system|soft tissue tumor of central nervous system|soft tissue tumor of the central nervous system|central nervous system mesenchymal, non-meningothelial tumor MONDO:0003240 thyroid gland disease biolink:Disease mondo EFO:1000627|MESH:D013959|ICD10:E07.9|DOID:50|Wikipedia:Thyroid_disease|ICD9:240-246.99|ICD10:E00-E07|SCTID:14304000|UMLS:C0040128|COHD:141253|NCIT:C26893|ICD9:246.8|ICD10:E00.E07|ICD9:246.9 A disease involving the thyroid gland. NCIT:C26893|DOID:50|MESH:D013959|UMLS:C0040128|SNOMEDCT:14304000 http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease or disorder|disease of thyroid gland|thyroid gland diseases|thyroid disease|disorder of thyroid gland|thyroid gland diseases|disorder of thyroid gland|thyroid gland disease|thyroid gland disorders|thyroid gland disorder|disease or disorder of thyroid gland MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome biolink:Disease mondo GARD:0008755|ICD10:Q87.0|Orphanet:1135 Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. ORPHA:1135 http://purl.obolibrary.org/obo/MONDO_0015238 congenital absence of nose and anterior nasopharynx|arhinia choanal atresia microphthalmia|Bosma arhinia microphthalmia syndrome|Bosma Henkin Christiansen syndrome ordo_malformation_syndrome|gard_rare MONDO:0015237 arrhinia biolink:Disease mondo GARD:0000364|ICD10:Q30.1|SCTID:111317000|MESH:C537438|Orphanet:1134|ICD9:748.1 Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia. ORPHA:1134|MESH:C537438|UMLS:C0265740|SNOMEDCT:111317000 http://purl.obolibrary.org/obo/MONDO_0015237 Nose agenesia|isolated nose agenesis|congenital absence of the nose|isolated arrhinia|Nose agenesis ordo_malformation_syndrome|gard_rare MONDO:0015236 aortic arch defects biolink:Disease mondo Orphanet:1132|ICD10:Q25.4|GARD:0000741 Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren. ORPHA:1132 http://purl.obolibrary.org/obo/MONDO_0015236 ordo_group_of_disorders|gard_rare MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome biolink:Disease mondo Orphanet:1130|GARD:0000764|ICD10:Q87.8|UMLS:CN197590|SCTID:720502000 Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients. UMLS:CN197590|ORPHA:1130|SNOMEDCT:720502000 http://purl.obolibrary.org/obo/MONDO_0015235 De Die-Smulders-Vles-Fryns syndrome|arachnodactyly - intellectual disability - dysmorphism ordo_malformation_syndrome GO:0034399 nuclear periphery biolink:OntologyClass mondo The portion of the nuclear lumen proximal to the inner nuclear membrane. http://purl.obolibrary.org/obo/GO_0034399 NCBITaxon:34609 Amblyomma maculatum organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34609 Gulf Coast tick MONDO:0017897 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency biolink:Disease mondo Orphanet:319535|UMLS:CN203953|ICD10:D84.8 Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency. ORPHA:319535|UMLS:CN203953 http://purl.obolibrary.org/obo/MONDO_0017897 mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive|autosomal recessive MSMD due to a complete deficiency ordo_group_of_disorders|predisposition HGNC:17768 TDP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17768 MONDO:0017898 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency biolink:Disease mondo UMLS:CN203954|ICD10:D84.8|Orphanet:319539 Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency. ORPHA:319539|UMLS:CN203954 http://purl.obolibrary.org/obo/MONDO_0017898 autosomal recessive MSMD due to a partial deficiency|mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive ordo_group_of_disorders|predisposition NCBITaxon:34607 Amblyomma cajennense organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34607 Cayenne tick|Acarus cajennensis MONDO:0017899 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency biolink:Disease mondo Orphanet:319543|ICD10:D84.8|UMLS:CN203955 Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8). ORPHA:319543|UMLS:CN203955 http://purl.obolibrary.org/obo/MONDO_0017899 mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant|autosomal dominant MSMD due to a partial deficiency ordo_group_of_disorders|predisposition MONDO:0015239 abnormal origin of the pulmonary artery biolink:Disease mondo ICD10:Q25.7|SCTID:68092007|Orphanet:1138 SNOMEDCT:68092007|ORPHA:1138 http://purl.obolibrary.org/obo/MONDO_0015239 ordo_group_of_disorders MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome biolink:Disease mondo GARD:0000717|SCTID:720495005|UMLS:CN197570|Orphanet:1101|ICD10:Q87.8 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. UMLS:CN197570|ORPHA:1101|SNOMEDCT:720495005 http://purl.obolibrary.org/obo/MONDO_0015230 Cassia Stocco dos Santos syndrome|anophthalmia megalocornea cardiopathy skeletal anomalies gard_rare|ordo_malformation_syndrome MONDO:0017893 inherited acute myeloid leukemia biolink:Disease mondo UMLS:CN203946|Orphanet:319465|SCTID:764940002|ICD10:C92.0 An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome. ORPHA:319465|UMLS:CN203946|SNOMEDCT:764940002 http://purl.obolibrary.org/obo/MONDO_0017893 familial AML|Pure familial acute myeloid leukemia|inherited AML|Pure familial AML|hereditary acute myeloid leukemia ordo_disease MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations biolink:Disease mondo UMLS:C2826178|SCTID:764855007|ICD10:C92.0|Orphanet:319480|NCIT:C82433 Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). ORPHA:319480|SNOMEDCT:764855007|NCIT:C82433|UMLS:C2826178 http://purl.obolibrary.org/obo/MONDO_0017894 AML with mutated CEBPA|acute myeloid Leukemia with mutated CEBPA|non-familial acute myeloid leukemia with mutated CEBPA|AML with CEBPA somatic mutations|acute myeloid Leukemia with non-germline mutated CEBPA ordo_disease MONDO:0017895 familial papillary or follicular thyroid carcinoma biolink:Disease mondo NCIT:C118829|Orphanet:319487|UMLS:C3896673|UMLS:CN227215|ICD10:C73 A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients. UMLS:C3896673|ORPHA:319487|UMLS:CN227215|NCIT:C118829 http://purl.obolibrary.org/obo/MONDO_0017895 FNMTC|familial nonmedullary thyroid gland carcinoma|familial pure nonmedullary thyroid carcinoma ordo_disease HGNC:30740 TARS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30740 MONDO:0017896 familial nonmedullary thyroid carcinoma biolink:Disease mondo OMIMPS:188550|UMLS:C3501843|DC:0000711|Orphanet:319494|ICD10:C73|UMLS:CN227216 Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. ORPHA:319494|UMLS:CN227216|UMLS:C3501843 http://purl.obolibrary.org/obo/MONDO_0017896 thyroid cancer, nonmedullary ordo_group_of_disorders MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome biolink:Disease mondo MESH:C537024|ICD10:Q87.8|SCTID:720501007|UMLS:C2931398|Orphanet:1129|GARD:0000381 Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. UMLS:C2931398|ORPHA:1129|MESH:C537024|SNOMEDCT:720501007 http://purl.obolibrary.org/obo/MONDO_0015234 arachnodactyly, abnormal ossification and mental retardation|Kosztolanyi syndrome|arachnodactyly, abnormal ossification and intellectual disability ordo_malformation_syndrome MONDO:0017890 tubulocystic renal cell carcinoma biolink:Disease mondo Orphanet:319325|SCTID:733603009|NCIT:C126303|ICD10:C64|UMLS:C4288091 Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported. ORPHA:319325|SNOMEDCT:733603009|NCIT:C126303|UMLS:C4288091 http://purl.obolibrary.org/obo/MONDO_0017890 Tubulocystic renal cell cancer ordo_disease MONDO:0015233 caudal appendage-deafness syndrome biolink:Disease mondo GARD:0001163|UMLS:C2931593|MESH:C537713|SCTID:726621009|Orphanet:1123 Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. SNOMEDCT:726621009|UMLS:C2931593|ORPHA:1123|MESH:C537713 http://purl.obolibrary.org/obo/MONDO_0015233 Lynch-Lee-Murday syndrome|caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation|Lynch Lee Murday syndrome|caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability|caudal appendage deafness ordo_malformation_syndrome MONDO:0017891 inherited renal cancer-predisposing syndrome biolink:Disease mondo UMLS:CN203941|Orphanet:319328 ORPHA:319328|UMLS:CN203941 http://purl.obolibrary.org/obo/MONDO_0017891 ordo_group_of_disorders MONDO:0015232 radial deficiency-tibial hypoplasia syndrome biolink:Disease mondo UMLS:CN226642|ICD10:Q73.8|Orphanet:1121 ORPHA:1121|UMLS:CN226642 http://purl.obolibrary.org/obo/MONDO_0015232 ordo_malformation_syndrome MONDO:0015231 Bartter syndrome biolink:Disease mondo SCTID:707742001|GARD:0005893|ICD10:E26.8|Orphanet:112|MESH:D001477|NCIT:C34412|UMLS:C0004775|UMLS:C0085570|MedDRA:10050839|COHD:45769152|ICD10:E26.81|OMIMPS:601678|ICD9:255.13|DOID:445 Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. UMLS:C0004775|UMLS:C0085570|MESH:D001477|SNOMEDCT:707742001|DOID:445|ORPHA:112|NCIT:C34412|MEDDRA:10050839 http://purl.obolibrary.org/obo/MONDO_0015231 renal tubular normotensive hypokalemic alkalosis with hypercalciuria|Potassium wasting|hypokalemic alkalosis|hypokalemic alkalosis with hypercalciuria|aldosteronism with hyperplasia of the adrenal cortex|Bartter disease|Bartter's syndrome|salt-wasting tubulopathy, Henle's loop type|salt-losing tubular disorder, Henle's loop type ordo_disease|gard_rare MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita biolink:Disease mondo Orphanet:319332|SCTID:764812008|UMLS:CN203942|ICD10:Q74.3 Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. ORPHA:319332|UMLS:CN203942|SNOMEDCT:764812008 http://purl.obolibrary.org/obo/MONDO_0017892 SYNE1-related arthrogryposis multiplex congenita|autosomal recessive myogenic AMC|SYNE1-related AMC ordo_disease HGNC:17761 TREM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17761 MONDO:0054868 meconium ileus biolink:Disease mondo SCTID:206523001|NCIT:C98979 Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine. SNOMEDCT:206523001|NCIT:C98979 http://purl.obolibrary.org/obo/MONDO_0054868 meconium ileus MONDO:0054867 paraomphalocele biolink:Disease mondo MESH:C537170 MESH:C537170 http://purl.obolibrary.org/obo/MONDO_0054867 Paraomphalocele, hypogastric|Paraomphalocele, epigastric MONDO:0054866 sudden arrhythmia death syndrome biolink:Disease mondo UMLS:C2721586|SCTID:735686002|GARD:0009434 SNOMEDCT:735686002|UMLS:C2721586 http://purl.obolibrary.org/obo/MONDO_0054866 SADS|sudden cardiac death due to cardiac arrhythmia|sudden arrhythmic death syndrome gard_rare MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect biolink:Disease mondo OMIMPS:614388|Orphanet:527276 ORPHA:527276 http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to defective mitochondrial and peroxisomal fission ordo_disease MONDO:0003256 neurohypophysis granular cell tumor biolink:Disease mondo NCIT:C7017|SCTID:699331002|ICDO:9582/0|UMLS:C1333873|EFO:1000285|DOID:5047 A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO) DOID:5047|UMLS:C1333873|NCIT:C7017|SNOMEDCT:699331002 http://purl.obolibrary.org/obo/MONDO_0003256 granular cell tumor of the Neurohypophysis (WHO grade I)|granular cell tumor of Neurohypophysis|granular cell tumor of the posterior pituitary gland|granular cell tumor of neurohypophysis|granular cell tumor of the neurohypophysis|neurohypophysis granular cell tumor MONDO:0003257 posterior pituitary gland neoplasm biolink:Disease mondo UMLS:C1334957|NCIT:C7157|DOID:5048 A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma. DOID:5048|UMLS:C1334957|NCIT:C7157 http://purl.obolibrary.org/obo/MONDO_0003257 posterior pituitary tumor|PITUICYTOMA, benign|neurohypophysis neoplasm (disease)|neoplasm of neurohypophysis|neurohypophysis tumor|Neurohypophysis tumor|posterior pituitary neoplasm|tumor of neurohypophysis|neurohypophysis neoplasm|posterior pituitary gland neoplasm|posterior pituitary gland tumor|Neurohypophysis neoplasm MONDO:0003258 hobnail hemangioma biolink:Disease mondo NCIT:C27506|SCTID:254790003|DOID:505|UMLS:C0346076 A hemangioma characterized by the presence of hobnail endothelial cells. NCIT:C27506|UMLS:C0346076|SNOMEDCT:254790003|DOID:505 http://purl.obolibrary.org/obo/MONDO_0003258 hobnail hemangioma|Targetoid Hemosiderotic hemangioma MONDO:0054869 nondystrophic myotonia biolink:Disease mondo MESH:C536245|GARD:0009852 MESH:C536245 http://purl.obolibrary.org/obo/MONDO_0054869 NDM gard_rare MONDO:0003259 obsolete melioidosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003259 MONDO:0003252 granular cell cancer biolink:Disease mondo UMLS:C0334618|SCTID:404041003|DOID:5042|ICD9:171.9|ICDO:9580/3|NCIT:C4336 An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity. NCIT:C4336|UMLS:C0334618|DOID:5042|SNOMEDCT:404041003 http://purl.obolibrary.org/obo/MONDO_0003252 malignant granular cell tumor|malignant granular cell neoplasm|myoblastoma, malignant|granular cell tumor, malignant (morphologic abnormality)|granular cell tumor, malignant|malignant granular cell myoblastoma MONDO:0003253 vulvar granular cell tumor biolink:Disease mondo DOID:5043|NCIT:C40328|UMLS:C1520083 A usually benign granular cell tumor that arises from the vulva. UMLS:C1520083|NCIT:C40328|DOID:5043 http://purl.obolibrary.org/obo/MONDO_0003253 vulvar granular cell tumor|granular cell tumor of mammalian vulva|mammalian vulva granular cell tumor MONDO:0003254 cardiac granular cell neoplasm biolink:Disease mondo NCIT:C5360|DOID:5044|UMLS:C1332845 A very rare granular cell tumor that arises from the heart. NCIT:C5360|DOID:5044|UMLS:C1332845 http://purl.obolibrary.org/obo/MONDO_0003254 granular cell neoplasm of the heart|granular cell neoplasm of heart|granular cell tumor of heart|granular cell tumor of the heart|Cardiac granular cell tumor|Cardiac granular cell neoplasm|heart granular cell tumor MONDO:0003255 mediastinal granular cell myoblastoma biolink:Disease mondo DOID:5046|NCIT:C6601|UMLS:C1334656 An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum. NCIT:C6601|UMLS:C1334656|DOID:5046 http://purl.obolibrary.org/obo/MONDO_0003255 granular cell tumor of mediastinum|mediastinal granular cell neoplasm|mediastinum granular cell tumor|granular cell myoblastoma of the mediastinum|granular cell myoblastoma of mediastinum|granular cell tumor of the mediastinum|mediastinal granular cell tumor|mediastinal granular cell myoblastoma|granular cell neoplasm of the mediastinum|granular cell neoplasm of mediastinum MONDO:0003250 benign granular cell tumor biolink:Disease mondo UMLS:C0027043|NCIT:C3252|DOID:5039 A granular cell tumor that is confined to the site of origin, without metastatic potential. NCIT:C3252|UMLS:C0027043|DOID:5039 http://purl.obolibrary.org/obo/MONDO_0003250 benign granular cell myoblastoma|benign granular cell tumor|granular cell tumor, benign|benign granular cell neoplasm|myoblastoma MONDO:0003251 esophageal granular cell tumor biolink:Disease mondo UMLS:C1333448|DOID:5040|NCIT:C5700 A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003 NCIT:C5700|UMLS:C1333448|DOID:5040 http://purl.obolibrary.org/obo/MONDO_0003251 esophageal granular cell tumor|esophageal granular cell myoblastoma|granular cell neoplasm of the esophagus|granular cell neoplasm of esophagus|granular cell esophagus tumor|granular cell esophageal tumor|granular cell esophagus myoblastoma|esophagus granular cell tumor|malignant granular cell esophageal tumor|granular cell esophagus neoplasm|granular cell tumor of esophagus|granular cell myoblastoma of the esophagus|esophageal granular cell neoplasm|granular cell tumor of the esophagus|granular cell myoblastoma of esophagus MONDO:0015227 non-syndromic limb malformation biolink:Disease mondo Orphanet:109011 ORPHA:109011 http://purl.obolibrary.org/obo/MONDO_0015227 isolated limb malformation|nonsyndromic limb malformation ordo_group_of_disorders MONDO:0015226 syndrome with limb malformations as a major feature biolink:Disease mondo Orphanet:109009|UMLS:CN197565|ICD10:Q87.2 ORPHA:109009|UMLS:CN197565 http://purl.obolibrary.org/obo/MONDO_0015226 obsoletion_candidate|ordo_group_of_disorders MONDO:0015225 arthrogryposis syndrome biolink:Disease mondo Orphanet:109007|ICD10:Q68.8 ORPHA:109007|UMLS:C0003886|MESH:D001176 http://purl.obolibrary.org/obo/MONDO_0015225 ordo_group_of_disorders|clingen MONDO:0015224 obsolete rare intoxication biolink:Disease mondo UMLS:CN226640|Orphanet:108999 Any of the forms of poisoning that have a rare incidence. ORPHA:108999|UMLS:CN226640 http://purl.obolibrary.org/obo/MONDO_0015224 rare poisoning obsoletion_candidate|ordo_group_of_disorders MONDO:0017886 MIT family translocation renal cell carcinoma biolink:Disease mondo Orphanet:319308|ICD10:C64|SCTID:764694005|UMLS:C4518356 MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. SNOMEDCT:764694005|UMLS:C4518356|ORPHA:319308 http://purl.obolibrary.org/obo/MONDO_0017886 translocation renal cell carcinoma|carcinoma associated with MITF/TFE translocation ordo_disease MONDO:0017887 renal cell carcinoma associated with neuroblastoma biolink:Disease mondo Orphanet:319314|ICD10:C64|UMLS:C3272295|NCIT:C100051 Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. NCIT:C100051|ORPHA:319314|UMLS:C3272295 http://purl.obolibrary.org/obo/MONDO_0017887 renal cell cancer associated with neuroblastoma|renal cell carcinoma after neuroblastoma|renal cell carcinoma associated with neuroblastoma ordo_histopathological_subtype MONDO:0015229 Bardet-Biedl syndrome biolink:Disease mondo UMLS:C0752166|GARD:0006866|NCIT:C118632|OMIMPS:209900|MedDRA:10056715|ICD9:759.89|SCTID:5619004|DOID:1935|MESH:D020788|ICD10:Q87.8|Orphanet:110|ICD10:Q87.89 Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems MEDDRA:10056715|DOID:1935|MESH:D020788|NCIT:C118632|UMLS:C0752166|ORPHA:110|SNOMEDCT:5619004 http://purl.obolibrary.org/obo/MONDO_0015229 Laurence-Moon-Biedl syndrome|BBS|Laurence-Moon syndrome|Laurence-Moon-Bardet-Biedl syndrome ordo_disease|clingen MONDO:0017888 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017888 MONDO:0015228 pentasomy X biolink:Disease mondo Orphanet:11|NCIT:C89802|MESH:C535319|ICD10:Q97.1|UMLS:C0265497|SCTID:43248007|GARD:0005678 Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). MESH:C535319|SNOMEDCT:43248007|ORPHA:11|NCIT:C89802|UMLS:C0265497 http://purl.obolibrary.org/obo/MONDO_0015228 penta-X|49,XXXXX syndrome|XXXXX syndrome|chromosome XXXXX syndrome|penta-X syndrome|chromosome X pentasomy|Pentasomy type X|poly-X|Pentasomy X syndrome|penta X syndrome|49, XXXXX syndrome ordo_malformation_syndrome MONDO:0017889 obsolete mucinous tubular and spindle cell renal carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017889 MONDO:0017882 Omsk hemorrhagic fever biolink:Disease mondo SCTID:48113006|DOID:992|MedDRA:10030310|MESH:D006481|GARD:0008254|Orphanet:319266|ICD9:065.1|UMLS:C0019103|ICD10:A98.1 Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis. MEDDRA:10030310|ORPHA:319266|SNOMEDCT:48113006|DOID:992|UMLS:C0019103|MESH:D006481 http://purl.obolibrary.org/obo/MONDO_0017882 gard_rare|ordo_disease MONDO:0017883 obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017883 MONDO:0017884 papillary renal cell carcinoma biolink:Disease mondo OMIM:605074|Orphanet:47044|SCTID:733608000|GARD:0009575|ICD10:C64|GARD:0009572|DOID:4465|Orphanet:319298|UMLS:CN205129|UMLS:C1336078|UMLS:C1306837|EFO:0000640|NCIT:C6975|ONCOTREE:PRCC Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. UMLS:CN205129|UMLS:C1336078|NCIT:C6975|ORPHA:47044|UMLS:C2931899|ORPHA:319298|UMLS:C1306837|MESH:C538614|DOID:4465|SNOMEDCT:733608000|http://identifiers.org/omim/605074 http://purl.obolibrary.org/obo/MONDO_0017884 papillary kidney carcinoma|RCCP|renal cell carcinoma, papillary, 1|papillary renal cell cancer|chromophil carcinoma of the kidney|renal adenocarcinoma|papillary renal cell carcinoma, multiple - (subtype)|renal cell carcinoma, papillary, type 1|papillary renal cell carcinoma, familial - (subtype)|papillary renal cell carcinoma, bilateral - (subtype)|papillary renal cell adenocarcinoma|chromophil carcinoma of kidney|papillary renal cell carcinoma, sporadic - (subtype)|chromophil renal cell carcinoma|renal cell carcinoma, papillary, 1; RCCP1|chromophil RCC|papillary renal cell carcinoma|papillary renal carcinoma, malignant - (subtype)|papillary (chromophil) renal cell carcinoma|RCCP1|sporadic papillary renal cell carcinoma|HPRCC gard_rare|ordo_disease MONDO:0017885 chromophobe renal cell carcinoma biolink:Disease mondo NCIT:C4146|SCTID:733471003|Orphanet:319303|ICDO:8270/3|ONCOTREE:CHRCC|UMLS:C3887514|ICDO:8317/3|GARD:0006064|ICD10:C64|EFO:0000335|UMLS:C1266042|DOID:4471 Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. SNOMEDCT:733471003|NCIT:C4146|ORPHA:319303|UMLS:C1266042|UMLS:C3887514|DOID:4471 http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe carcinoma of kidney|chromophobe renal cell adenocarcinoma|chromophobe cell carcinoma of kidney|chromophobe cell carcinoma of the kidney|chromophobe adenocarcinoma|kidney chromophobe|chromophobe renal cell cancer|chromophobe carcinoma of the kidney|ChRCC|chromophobe carcinoma|renal cell carcinoma, chromophobe cell|chromophobe renal cell carcinoma|CRCC|CHRCC|renal cell carcinoma, chromophobe type gard_rare|ordo_disease MONDO:0015223 obsolete rare anemia biolink:Disease mondo Orphanet:108997 Rare anemia. ORPHA:108997 http://purl.obolibrary.org/obo/MONDO_0015223 rare anemia|rare anemia (disease) ordo_group_of_disorders|obsoletion_candidate GO:0034381 plasma lipoprotein particle clearance biolink:OntologyClass mondo The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. http://purl.obolibrary.org/obo/GO_0034381 lipoprotein particle clearance MONDO:0015222 syndromic respiratory or mediastinal malformation biolink:Disease mondo Orphanet:108995|UMLS:CN226638 A respiratory or mediastinal malformation that is part of a larger syndrome. ORPHA:108995|UMLS:CN226638 http://purl.obolibrary.org/obo/MONDO_0015222 syndrome associated with respiratory or mediastinal malformation|syndromic respiratory or mediastinal malformation|syndrome associated with respiratory or mediastinal malformation ordo_group_of_disorders MONDO:0017880 Rift valley fever biolink:Disease mondo MESH:D012295|NCIT:C128419|ICD10:A92.4|DOID:1328|SCTID:402917003|UMLS:C0035613|Orphanet:319251|MedDRA:10039143 Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms. MEDDRA:10039143|UMLS:C0035613|DOID:1328|ORPHA:319251|MESH:D012295|SNOMEDCT:402917003|NCIT:C128419 http://purl.obolibrary.org/obo/MONDO_0017880 RVF ordo_disease MONDO:0015221 non-syndromic respiratory or mediastinal malformation biolink:Disease mondo Orphanet:108993 A respiratory or mediastinal malformation that is not part of a larger syndrome. ORPHA:108993 http://purl.obolibrary.org/obo/MONDO_0015221 isolated respiratory or mediastinal malformation|nonsyndromic respiratory or mediastinal malformation|isolated respiratory or mediastinal malformation ordo_group_of_disorders MONDO:0015220 syndrome with a central nervous system malformation as major feature biolink:Disease mondo Orphanet:108991|UMLS:CN197562 UMLS:CN197562|ORPHA:108991 http://purl.obolibrary.org/obo/MONDO_0015220 ordo_group_of_disorders MONDO:0017881 Kyasanur forest disease biolink:Disease mondo UMLS:C0022810|GARD:0008257|DOID:11320|SCTID:23097003|Orphanet:319254|ICD9:065.2|MESH:D007733|ICD10:A98.2|MedDRA:10023505 Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations. DOID:11320|UMLS:C0022810|ORPHA:319254|SNOMEDCT:23097003|MEDDRA:10023505|MESH:D007733 http://purl.obolibrary.org/obo/MONDO_0017881 Kyasanur forest disease virus infectious disease|monkey disease|Kyasanur forest disease virus caused disease or disorder|KFD virus|Kyasanur forest disease virus disease or disorder|monkey fever|Kyasanur hemorrhagic fever|KFD gard_rare|ordo_disease HGNC:17772 TXN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17772 GO:0071375 cellular response to peptide hormone stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/GO_0071375 cellular response to polypeptide hormone stimulus MONDO:0054813 ehlers-danlos syndrome, classic-like, 2 biolink:Disease mondo Orphanet:536532|UMLS:CN248508|OMIM:618000 ORPHA:536532|http://identifiers.org/omim/618000|UMLS:CN248508 http://purl.obolibrary.org/obo/MONDO_0054813 Ehlers-Danlos syndrome, classic-like, 2; EDSCLL2|EDSCLL2 ordo_disease HGNC:30718 DNAJB13 biolink:OntologyClass mondo http://identifiers.org/hgnc/30718 MONDO:0054817 leukodystrophy, hypomyelinating, 17 biolink:Disease mondo OMIM:618006|UMLS:CN248514 UMLS:CN248514|http://identifiers.org/omim/618006 http://purl.obolibrary.org/obo/MONDO_0054817 HLD17|leukodystrophy, hypomyelinating, 17; HLD17 MONDO:0015292 endotheliitis biolink:Disease mondo Orphanet:137602 An inflammatory disease involving a pathogenic inflammatory response in the endothelium. ORPHA:137602 http://purl.obolibrary.org/obo/MONDO_0015292 endothelium inflammation|inflammation of endothelium ordo_disease MONDO:0015291 stromal keratitis biolink:Disease mondo Orphanet:137599|UMLS:C1318020|ICD10:H16.3 Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases. UMLS:C1318020|ORPHA:137599 http://purl.obolibrary.org/obo/MONDO_0015291 ordo_disease MONDO:0015290 neurotrophic keratopathy biolink:Disease mondo UMLS:C0339296|Orphanet:137596|MedDRA:10069732|ICD10:H16.2|SCTID:128080005 Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision. MEDDRA:10069732|ORPHA:137596|SNOMEDCT:128080005|UMLS:C0339296 http://purl.obolibrary.org/obo/MONDO_0015290 neurotrophic keratitis ordo_disease NCBITaxon:32008 Burkholderia organism taxon mondo PMID:25566316|PMID:1283774|PMID:10555347|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_32008 Pseudomonas RNA homology group II HGNC:17748 DACT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17748 MONDO:0015296 cardiac anomalies-heterotaxy syndrome biolink:Disease mondo ICD10:Q28.8|Orphanet:137628|UMLS:CN199246 Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. UMLS:CN199246|ORPHA:137628 http://purl.obolibrary.org/obo/MONDO_0015296 ordo_malformation_syndrome MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome biolink:Disease mondo UMLS:CN226653|ICD10:Q87.8|Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. ORPHA:137622|UMLS:CN226653 http://purl.obolibrary.org/obo/MONDO_0015295 ordo_malformation_syndrome MONDO:0015294 nephrogenic systemic fibrosis biolink:Disease mondo ICD9:588.89|GARD:0009725|MESH:D054989|NCIT:C84920|EFO:1001814|UMLS:C1619692|MedDRA:10067467|Orphanet:137617|UMLS:C3888044|SCTID:424114000 Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease. SNOMEDCT:424114000|MESH:D054989|NCIT:C84920|MEDDRA:10067467|UMLS:C1619692|UMLS:C3888044|ORPHA:137617 http://purl.obolibrary.org/obo/MONDO_0015294 nephrogenic fibrosing dermopathy|NSF|NFD ordo_disease|gard_rare MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome biolink:Disease mondo UMLS:CN199243|SCTID:763867001|Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. UMLS:CN199243|SNOMEDCT:763867001|ORPHA:137608 http://purl.obolibrary.org/obo/MONDO_0015293 SOLAMEN syndrome ordo_malformation_syndrome MONDO:0015299 Asherman syndrome biolink:Disease mondo ICD10:N85.6|MedDRA:10053868|GARD:0005853|Orphanet:137686|SCTID:48236007|MedDRA:10022821|UMLS:C0156372 MEDDRA:10053868|MEDDRA:10022821|UMLS:C0156372|UMLS:C1704274|SNOMEDCT:48236007|ORPHA:137686 http://purl.obolibrary.org/obo/MONDO_0015299 intrauterine synechiae|Asherman syndrome|uterine synechiae|Asherman's syndrome|intrauterine adhesions ordo_disease|gard_rare NCBITaxon:32003 Nitrosomonadales organism taxon mondo PMID:25701846|PMID:28581923|GC_ID:11|PMID:25017294|PMID:10028253|PMID:11760943|PMID:16403855 http://purl.obolibrary.org/obo/NCBITaxon_32003 Ammonia oxidizing bacteria|Ammonia-oxidizing bacteria MONDO:0015298 pellucid marginal degeneration biolink:Disease mondo GARD:0011895|UMLS:CN199253|ICD10:H18.7|Orphanet:137672 UMLS:CN199253|ORPHA:137672 http://purl.obolibrary.org/obo/MONDO_0015298 gard_rare|ordo_disease MONDO:0015297 obsolete microcephaly-digital anomalies-intellectual disability syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:137653|UMLS:CN199250 UMLS:CN199250|ORPHA:137653 http://purl.obolibrary.org/obo/MONDO_0015297 Kelly-Kirson-Wyatt syndrome MONDO:0054802 erythrocytosis, familial, 7 biolink:Disease mondo OMIM:617981|UMLS:CN244942 http://identifiers.org/omim/617981|UMLS:CN244942 http://purl.obolibrary.org/obo/MONDO_0054802 erythrocytosis, Alpha-globin type|erythrocytosis, FAMILIAL, 7; ECYT7|polycythemia, Alpha-globin type|ECYT7 GO:0071396 cellular response to lipid biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/GO_0071396 MONDO:0054801 erythrocytosis, familial, 6 biolink:Disease mondo OMIM:617980|UMLS:CN244941 http://identifiers.org/omim/617980|UMLS:CN244941 http://purl.obolibrary.org/obo/MONDO_0054801 polycythemia, Beta-globin type|erythrocytosis, FAMILIAL, 6; ECYT6|erythrocytosis, Beta-globin type|ECYT6 MONDO:0054806 microcephaly 23, primary, autosomal recessive biolink:Disease mondo OMIM:617985|UMLS:CN244932 http://identifiers.org/omim/617985|UMLS:CN244932 http://purl.obolibrary.org/obo/MONDO_0054806 microcephaly 23, PRIMARY, autosomal recessive; MCPH23|MCPH23 MONDO:0015281 atrial standstill biolink:Disease mondo SCTID:450919004|ICD9:426.6|Orphanet:1344|UMLS:CN199216|DC:0000699|ICD10:I45.5 Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves. SNOMEDCT:450919004|UMLS:CN199216|ORPHA:1344 http://purl.obolibrary.org/obo/MONDO_0015281 atrial cardiomyopathy with heart block ordo_disease MONDO:0015280 cardiofaciocutaneous syndrome biolink:Disease mondo SCTID:403770008|DOID:0060233|Orphanet:1340|GARD:0009146|OMIMPS:115150|UMLS:C1275081|MESH:C535579|NCIT:C84617|ICD10:Q87.8 Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability. SNOMEDCT:403770008|MESH:C535579|UMLS:C1275081|DOID:0060233|NCIT:C84617|ORPHA:1340 http://purl.obolibrary.org/obo/MONDO_0015280 CFC|CFC syndrome|congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure|cardiofaciocutaneous (CFC) syndrome|cardio-facial-cutaneous syndrome|cardio-facio-cutaneous syndrome ordo_malformation_syndrome|clingen MONDO:0054805 microcephaly 22, primary, autosomal recessive biolink:Disease mondo OMIM:617984 http://identifiers.org/omim/617984 http://purl.obolibrary.org/obo/MONDO_0054805 microcephaly 22, PRIMARY, autosomal recessive; MCPH22|MCPH22 MONDO:0054804 microcephaly 21, primary, autosomal recessive biolink:Disease mondo OMIM:617983|UMLS:CN244930 http://identifiers.org/omim/617983|UMLS:CN244930 http://purl.obolibrary.org/obo/MONDO_0054804 microcephaly 21, PRIMARY, autosomal recessive; MCPH21|MCPH21 HGNC:17759 PDSS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17759 MONDO:0015285 Carney complex biolink:Disease mondo Orphanet:1359|SCTID:733491005|ICD10:D44.8|NCIT:C4705|GARD:0001119|DOID:0050471|MESH:D056733|UMLS:C0406810 Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. MESH:D056733|SNOMEDCT:733491005|ORPHA:1359|UMLS:C0406810|DOID:0050471|NCIT:C4705|UMLS:C2607929 http://purl.obolibrary.org/obo/MONDO_0015285 CNC|Myxoma-spotty pigmentation-endocrine overactivity syndrome|Carney complex variant|lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome|atrial myxoma with lentigines|lamb|nevi, atrial myxoma, skin myxoma, ephelides syndrome|lamb syndrome|NAME syndrome|Carney's syndrome|Carney Complex, type 2|Myxoma - spotty pigmentation - endocrine overactivity|Carney Complex, type 1|Carney syndrome ordo_disease MONDO:0015284 heart-hand syndrome type 2 biolink:Disease mondo UMLS:C2931323|GARD:0009847|MESH:C536784|ICD10:Q87.2|Orphanet:1350|SCTID:721010003 Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). ORPHA:1350|MESH:C536784|UMLS:C2931323|SNOMEDCT:721010003 http://purl.obolibrary.org/obo/MONDO_0015284 atriodigital dysplasia type 2|heart-hand syndrome 2|Tabatznik syndrome ordo_malformation_syndrome MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss biolink:Disease mondo ICD10:I42.8|UMLS:CN199218|Orphanet:1349 Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. ORPHA:1349|UMLS:CN199218 http://purl.obolibrary.org/obo/MONDO_0015283 maternally-inherited cardiomyopathy and deafness|tRNA-LYS-related cardiomyopathy-hearing loss syndrome ordo_malformation_syndrome HGNC:17755 TNFRSF13C biolink:OntologyClass mondo http://identifiers.org/hgnc/17755 MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome biolink:Disease mondo GARD:0001102|UMLS:C2931548|SCTID:720609003|Orphanet:1345|MESH:C537616 Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. ORPHA:1345|MESH:C537616|SNOMEDCT:720609003|UMLS:C2931548 http://purl.obolibrary.org/obo/MONDO_0015282 Krasnow-Qazi syndrome|cardiomyopathy cataract hip spine disease|familial dilated cardiomyopathy associated with cataracts and hip-spine disease|Krasnow Qazi syndrome|Krasnow Qazi Yermakov syndrome gard_rare|ordo_disease MONDO:0015289 infectious epithelial keratitis biolink:Disease mondo Orphanet:137593 Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. ORPHA:137593 http://purl.obolibrary.org/obo/MONDO_0015289 ordo_disease MONDO:0015288 herpes simplex virus keratitis biolink:Disease mondo ICD10:B00.5+|DOID:0080158|EFO:0007308|UMLS:C0022570|UMLS:C0019357|Orphanet:137586|SCTID:9389005|ICD10:H19.1*|NCIT:C34743 A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed) ORPHA:137586|DOID:0080158|NCIT:C34743|UMLS:C0019357|SNOMEDCT:9389005|UMLS:C0022570 http://purl.obolibrary.org/obo/MONDO_0015288 Simplexvirus caused keratitis|HSV keratitis|dendritic keratitis|Simplexvirus keratitis|herpetic keratitis ordo_group_of_disorders MONDO:0015287 obsolete vulvar intraepithelial neoplasia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015287 MONDO:0015286 congenital disorder of glycosylation biolink:Disease mondo OMIMPS:212065|NCIT:C84615|Orphanet:137|MESH:D018981|UMLS:C0282577|GARD:0010307|SCTID:238049009|DOID:5212|ICD9:271.8|ICD10:E77.8 Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. DOID:5212|ORPHA:137|UMLS:C0282577|SNOMEDCT:238049009|MESH:D018981|NCIT:C84615 http://purl.obolibrary.org/obo/MONDO_0015286 CDG|carbohydrate deficient glycoprotein syndrome|congenital disorders of glycosylation|carbohydrate-deficient glycoprotein syndromes|carbohydrate-deficient glycoprotein syndrome ordo_group_of_disorders|clingen MONDO:0054835 parkinsonism-dystonia, infantile, 1 biolink:Disease mondo OMIM:613135 http://identifiers.org/omim/613135 http://purl.obolibrary.org/obo/MONDO_0054835 dopamine transporter deficiency syndrome|PKDYS|Parkinsonism-dystonia, infantile, 1; PKDYS1|PKDYS1 MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD biolink:Disease mondo OMIM:618036|Orphanet:521414|UMLS:CN248781 ORPHA:521414|http://identifiers.org/omim/618036|UMLS:CN248781 http://purl.obolibrary.org/obo/MONDO_0054833 Charcot-Marie-tooth disease, axonal, type 2DD; CMT2DD|Charcot-Marie-Tooth neuropathy, type 2Dd|CMT2DD ordo_disease MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 biolink:Disease mondo OMIM:618031|UMLS:CN248531 http://identifiers.org/omim/618031|UMLS:CN248531 http://purl.obolibrary.org/obo/MONDO_0054832 PPCD4|corneal dystrophy, POSTERIOR polymorphous, 4; PPCD4 MONDO:0015270 butyrylcholinesterase deficiency biolink:Disease mondo OMIM:617936|ICD9:289.89|SCTID:191397007|Orphanet:132|UMLS:C1283400|GARD:0007482|MESH:C537417 Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. MESH:C537417|ORPHA:132|UMLS:C1283400|http://identifiers.org/omim/617936|SNOMEDCT:191397007 http://purl.obolibrary.org/obo/MONDO_0015270 Acholinesterasemia|butyrylcholinesterase deficiency; BCHED|Suxamethonium sensitivity|hypocholinesterasemia, fluoride-resistant, Japanese type|apnea, postanesthetic|pseudocholinesterase E1|pseudocholinesterase deficiency|butyrylcholinesterase deficiency, fluoride-resistant, Japanese type|succinylcholine sensitivity|cholinesterase 2 deficiency|BCHED ordo_disease MONDO:0003289 deep leiomyoma biolink:Disease mondo NCIT:C6512|DOID:5128|UMLS:C1333266 A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. UMLS:C1333266|DOID:5128|NCIT:C6512 http://purl.obolibrary.org/obo/MONDO_0003289 deep leiomyoma MONDO:0054838 cardiomyopathy, familial hypertrophic 27 biolink:Disease mondo UMLS:CN252335|OMIM:618052 http://identifiers.org/omim/618052|UMLS:CN252335 http://purl.obolibrary.org/obo/MONDO_0054838 CMH27|cardiomyopathy, FAMILIAL hypertrophic 27; CMH27 MONDO:0054837 mental retardation, autosomal dominant 57 biolink:Disease mondo UMLS:CN252334|OMIM:618050 http://identifiers.org/omim/618050|UMLS:CN252334 http://purl.obolibrary.org/obo/MONDO_0054837 intellectual disability, autosomal dominant 57; MRD57|mental retardation, autosomal dominant 57; MRD57|MRD57 MONDO:0054836 parkinsonism-dystonia, infantile, 2 biolink:Disease mondo UMLS:CN248785|OMIM:618049 http://identifiers.org/omim/618049|UMLS:CN248785 http://purl.obolibrary.org/obo/MONDO_0054836 PKDYS2|Parkinsonism-dystonia, infantile, 2; PKDYS2 MONDO:0003285 fallopian tube leiomyoma biolink:Disease mondo NCIT:C40127|UMLS:C1517115|DOID:5124 A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C40127|DOID:5124|UMLS:C1517115 http://purl.obolibrary.org/obo/MONDO_0003285 leiomyoma of fallopian tube|fallopian tube leiomyoma MONDO:0003286 extrahepatic bile duct leiomyoma biolink:Disease mondo UMLS:C1333507|DOID:5125|NCIT:C5855 A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. UMLS:C1333507|DOID:5125|NCIT:C5855 http://purl.obolibrary.org/obo/MONDO_0003286 leiomyoma of the extrahepatic bile duct|leiomyoma of extrahepatic bile duct|extrahepatic bile duct leiomyoma MONDO:0003287 central nervous system leiomyoma biolink:Disease mondo UMLS:C1334382|DOID:5126|NCIT:C6998 A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity. UMLS:C1334382|DOID:5126|NCIT:C6998 http://purl.obolibrary.org/obo/MONDO_0003287 leiomyoma of central nervous system|leiomyoma of the central nervous system|leiomyoma of the CNS|central nervous system leiomyoma|leiomyoma of CNS MONDO:0003288 bizarre leiomyoma biolink:Disease mondo NCIT:C4257|DOID:5127|UMLS:C0334478|ICDO:8893/0 A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm. UMLS:C0334478|DOID:5127|NCIT:C4257 http://purl.obolibrary.org/obo/MONDO_0003288 pleomorphic leiomyoma|atypical leiomyoma|Symplastic leiomyoma|bizarre leiomyoma MONDO:0003281 ovarian cystic teratoma biolink:Disease mondo DOID:5118|NCIT:C7283|UMLS:C1335155 A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst. DOID:5118|NCIT:C7283|UMLS:C1335155 http://purl.obolibrary.org/obo/MONDO_0003281 ovary cystic teratoma MONDO:0003282 ovarian cyst (disease) biolink:Disease mondo DOID:5119|HP:0000138|ICD9:620.2|ICD10:N83.2|MESH:D010048|SCTID:79883001 SNOMEDCT:79883001|DOID:5119|MESH:D010048 http://purl.obolibrary.org/obo/MONDO_0003282 cyst, ovarian|cyst, corpus luteum|cysts, ovarian|corpus luteum cyst|cysts, corpus luteum|ovarian cyst|corpus luteum cysts MONDO:0003283 epididymal neoplasm biolink:Disease mondo SCTID:126902008|ICD9:239.5|NCIT:C39958|UMLS:C0346239|DOID:512 A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma. DOID:512|SNOMEDCT:126902008|NCIT:C39958|UMLS:C0346239 http://purl.obolibrary.org/obo/MONDO_0003283 neoplasm of epididymus|neoplasm of epididymis|epididymis neoplasm (disease)|epididymis tumor|epididymal neoplasm|tumor of epididymis|epididymis neoplasm MONDO:0003284 mediastinum leiomyoma biolink:Disease mondo NCIT:C6598|DOID:5123|UMLS:C1334659 A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. UMLS:C1334659|DOID:5123|NCIT:C6598 http://purl.obolibrary.org/obo/MONDO_0003284 mediastinum leiomyoma|leiomyoma of the mediastinum|mediastinal leiomyoma|leiomyoma of mediastinum MONDO:0003280 swayback biolink:Disease mondo MESH:D013540|SCTID:61960001|DOID:5112 Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed) DOID:5112|MESH:D013540|SNOMEDCT:61960001 http://purl.obolibrary.org/obo/MONDO_0003280 swayback of sheep MONDO:0015279 chronic mucocutaneous candidiasis (disease) biolink:Disease mondo SCTID:234568006|Orphanet:1334|HP:0002728|MedDRA:10009007|DOID:2058|UMLS:C0006845|ICD10:B37.2|OMIMPS:114580|MESH:D002178|NCIT:C34444 MESH:D002178|SNOMEDCT:234568006|ORPHA:1334|NCIT:C34444|DOID:2058|MEDDRA:10009007|UMLS:C0006845 http://purl.obolibrary.org/obo/MONDO_0015279 familial CMC|familial chronic mucocutaneous candidiasis|chronic mucocutaneous candidiasis|CANDF|familial candidiasis|CMC ordo_disease MONDO:0015274 chronic beryllium disease biolink:Disease mondo MESH:D001607|ICD10:J63.2|MedDRA:10004485|GARD:0000867|EFO:0007168|DOID:10322|Orphanet:133|ICD9:503|SCTID:18121009 Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea. MESH:D001607|ORPHA:133|UMLS:C0221052|MEDDRA:10004485|DOID:10322|SNOMEDCT:18121009 http://purl.obolibrary.org/obo/MONDO_0015274 reversible berylliosis|Subacute berylliosis|acute berylliosis|chronic pulmonary berylliosis|beryllium poisoning|berylliosis|Beryllliosis|chronic berylliosis|beryllium disease|chronic beryllium lung disease ordo_disease MONDO:0015273 complete atrioventricular canal biolink:Disease mondo SCTID:360481003|ICD10:Q21.2|MESH:C535974|ICD9:745.69|GARD:0001454|Orphanet:1329 Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. SNOMEDCT:360481003|ORPHA:1329|UMLS:C0344787|UMLS:C0221215|MESH:C535974 http://purl.obolibrary.org/obo/MONDO_0015273 CAVC|common atrioventricular canal|complete atrioventricular septal defect gard_rare|ordo_morphological_anomaly MONDO:0015272 camptodactyly-taurinuria syndrome biolink:Disease mondo Orphanet:1325|UMLS:C2931681|MESH:C537972|GARD:0001069|SCTID:733466005|ICD10:Q68.1 Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. ORPHA:1325|MESH:C537972|SNOMEDCT:733466005|UMLS:C2931681 http://purl.obolibrary.org/obo/MONDO_0015272 camptodactyly with taurinuria|camptodactyly taurinuria|familial streblodactyly with amino-aciduria ordo_malformation_syndrome|gard_rare MONDO:0015271 idiopathic camptocormia biolink:Disease mondo SCTID:13534001|ICD10:M43.8|Orphanet:1320|GARD:0001063|MESH:C537968|MedDRA:10069646 Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology. SNOMEDCT:13534001|ORPHA:1320|UMLS:C0264162|MESH:C537968|MEDDRA:10069646 http://purl.obolibrary.org/obo/MONDO_0015271 camptocormism|idiopathic progressive lumbar kyphosis|idiopathic camptocormism|bent spine|camptocormia|bent spine syndrome ordo_morphological_anomaly MONDO:0015278 familial pancreatic carcinoma biolink:Disease mondo ICD10:C25|GARD:0004206|NCIT:C43298|Orphanet:1333|OMIM:260350|SCTID:715414009|UMLS:C2931038|MESH:C535837 Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. SNOMEDCT:715414009|ORPHA:1333|http://identifiers.org/omim/260350|MESH:C535837|NCIT:C43298|UMLS:C2931038 http://purl.obolibrary.org/obo/MONDO_0015278 hereditary pancreatic carcinoma|pancreatic acinar carcinoma|familial pancreatic carcinoma|hereditary pancreatic cancer|hereditary exocrine pancreatic carcinoma|familial pancreatic cancer ordo_disease|clingen MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease biolink:Disease mondo OMIM:618061|UMLS:CN252647 Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. http://identifiers.org/omim/618061|UMLS:CN252647 http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease caused by mutation in DNAJB11|polycystic kidney disease 6 with or without polycystic liver disease; PKD6|DNAJB11 polycystic kidney disease|PKD6 NCBITaxon:2497569 Negarnaviricota organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2497569 MONDO:0015277 medullary thyroid gland carcinoma biolink:Disease mondo ICD10:C73|DOID:3973|MedDRA:10027101|NCIT:C3879|Orphanet:1332|SCTID:255032005|UMLS:C0238462|HP:0002865|UMLS:C0206693|GARD:0007004|ONCOTREE:THME A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy. UMLS:C0238462|NCIT:C3879|ORPHA:1332|UMLS:C0206693|MESH:C536914|SNOMEDCT:255032005|MEDDRA:10027101|DOID:3973 http://purl.obolibrary.org/obo/MONDO_0015277 medullary thyroid cancer|thyroid gland medullary cancer|thyroid gland neuroendocrine carcinoma|C cell carcinoma|parafollicular cell carcinoma|medullary carcinoma|medullary thyroid gland carcinoma|THME|thyroid carcinoma, medullary|carcinoma, C-cell, malignant|thyroid gland medullary carcinoma|thyroid medullary carcinoma|ultimobranchial thyroid tumor|medullary carcinoma of the thyroid gland|ultimobranchial thyroid tumour|carcinoma of parafollicular cell|medullary carcinoma of thyroid gland|medullary carcinoma of the thyroid|MTC|medullary thyroid cancer (MTC)|medullary carcinoma of thyroid|medullary thyroid carcinoma|thyroid cancer, medullary ordo_disease MONDO:0015276 obsolete prostate cancer biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015276 MONDO:0015275 partial atrioventricular canal biolink:Disease mondo GARD:0004229|MESH:C536112|ICD10:Q21.2|SCTID:718216009|Orphanet:1330 Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea. SNOMEDCT:718216009|ORPHA:1330|UMLS:C0344735|MESH:C536112 http://purl.obolibrary.org/obo/MONDO_0015275 partial common atrioventricular canal|partial atrioventricular septal defects|partial atrioventricular canal defect|partial AVSD|PAVC ordo_morphological_anomaly|gard_rare NCBITaxon:2497571 Polyploviricotina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2497571 NCBITaxon:2497570 Haploviricotina organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2497570 MONDO:0003296 cellular leiomyoma biolink:Disease mondo DOID:5139|UMLS:C0334477|ICDO:8892/0|NCIT:C4256 A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. DOID:5139|NCIT:C4256|UMLS:C0334477 http://purl.obolibrary.org/obo/MONDO_0003296 cellular leiomyoma (morphologic abnormality)|cellular leiomyoma MONDO:0003297 gallbladder leiomyoma biolink:Disease mondo NCIT:C5747|UMLS:C1333745|DOID:5140 A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. DOID:5140|UMLS:C1333745|NCIT:C5747 http://purl.obolibrary.org/obo/MONDO_0003297 leiomyoma of the gallbladder|leiomyoma of gall bladder|leiomyoma of gallbladder|gall bladder leiomyoma|gallbladder leiomyoma MONDO:0003298 vulvar leiomyoma biolink:Disease mondo DOID:5142|NCIT:C40326|UMLS:C1520087 A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C40326|DOID:5142|UMLS:C1520087 http://purl.obolibrary.org/obo/MONDO_0003298 vulvar leiomyoma|leiomyoma of mammalian vulva|mammalian vulva leiomyoma MONDO:0003299 colorectal leiomyoma biolink:Disease mondo UMLS:C1333113|NCIT:C5677|DOID:5143 A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. UMLS:C1333113|DOID:5143|NCIT:C5677 http://purl.obolibrary.org/obo/MONDO_0003299 leiomyoma of the large bowel|leiomyoma of large bowel|leiomyoma of large intestine|colorectal leiomyoma|leiomyoma of the large intestine|large bowel leiomyoma|large intestine leiomyoma|colorectum leiomyoma MONDO:0003292 anus leiomyoma biolink:Disease mondo NCIT:C5608|DOID:5134|UMLS:C1332266 A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCIT:C5608|UMLS:C1332266|DOID:5134 http://purl.obolibrary.org/obo/MONDO_0003292 anal leiomyoma|leiomyoma of the anus|anus leiomyoma|leiomyoma of anus MONDO:0003293 lung leiomyoma biolink:Disease mondo DOID:5136|UMLS:C1334447|SCTID:707374005|NCIT:C5660 A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. SNOMEDCT:707374005|NCIT:C5660|UMLS:C1334447|DOID:5136 http://purl.obolibrary.org/obo/MONDO_0003293 leiomyoma of lung|leiomyoma of the lung|lung leiomyoma|pulmonary leiomyoma MONDO:0003294 pericardium leiomyoma biolink:Disease mondo UMLS:C1335380|DOID:5137|NCIT:C6743 A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. DOID:5137|NCIT:C6743|UMLS:C1335380 http://purl.obolibrary.org/obo/MONDO_0003294 pericardium leiomyoma|leiomyoma of the pericardium|leiomyoma of pericardium|pericardial leiomyoma MONDO:0003295 leiomyomatosis biolink:Disease mondo ICDO:8890/1|MESH:D018231|DOID:5138|UMLS:C0206654|NCIT:C3748 A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. DOID:5138|UMLS:C0206654|MESH:D018231|NCIT:C3748 http://purl.obolibrary.org/obo/MONDO_0003295 leiomyomatosis, no ICD-O subtype|leiomyomatosis|leiomyomatosis, no ICD-O subtype (morphologic abnormality) MONDO:0003290 simple partial epilepsy biolink:Disease mondo DOID:5129|ICD9:345.51 DOID:5129 http://purl.obolibrary.org/obo/MONDO_0003290 MONDO:0015269 symmetrical thalamic calcifications biolink:Disease mondo Orphanet:1314|GARD:0005070|SCTID:719164000|UMLS:C4304914|ICD10:G93.8 Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. ORPHA:1314|UMLS:C4304914|SNOMEDCT:719164000 http://purl.obolibrary.org/obo/MONDO_0015269 bilateral symmetrical thalamic gliosis ordo_disease|gard_rare MONDO:0003291 leiomyoma cutis biolink:Disease mondo UMLS:C0346064|SCTID:254767008|DOID:5132|NCIT:C4482 A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. SNOMEDCT:254767008|NCIT:C4482|UMLS:C0346064|DOID:5132 http://purl.obolibrary.org/obo/MONDO_0003291 cutaneous leiomyoma|zone of skin leiomyoma|leiomyoma of skin|skin leiomyoma|cutaneous (skin) leiomyoma|leiomyoma of the skin|leiomyoma of zone of skin|leiomyoma cutis MONDO:0015268 medullary sponge kidney biolink:Disease mondo ICD10:Q61.5|Orphanet:1309|MedDRA:10027104|NCIT:C34751|GARD:0000232|MESH:D007691|UMLS:C0022681|SCTID:236443009|COHD:195072|ICD9:753.17 Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. ORPHA:1309|NCIT:C34751|MESH:D007691|MEDDRA:10027104|UMLS:C0022681|SNOMEDCT:236443009 http://purl.obolibrary.org/obo/MONDO_0015268 Cacchi Ricci disease|Cacchi-Ricci syndrome|Cacchi-Ricci disease|Precalyceal canalicular ectasia|Precalicial canalicular ectasia|cystic dilatation of renal collecting tubes|MSK|sponge kidney ordo_morphological_anomaly|gard_rare MONDO:0015263 Brugada syndrome biolink:Disease mondo Orphanet:130|NCIT:C142891|MedDRA:10059027|SCTID:418818005|GARD:0001030|ICD9:746.89|OMIMPS:601144|DOID:0050451|ICD10:I49.8|MESH:D053840|UMLS:C1142166 A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death. ORPHA:130|MEDDRA:10059027|DOID:0050451|SNOMEDCT:418818005|MESH:D053840|UMLS:C1142166|NCIT:C71059|NCIT:C142891 http://purl.obolibrary.org/obo/MONDO_0015263 Bangungut|SUNDS|right bundle branch block, ST segment elevation, and sudden death syndrome|Pokkuri death syndrome|dream disease|Brugada syndrome|sudden unexpected nocturnal death syndrome|sudden unexplained nocturnal death syndrome|Brugada type idiopathic ventricular fibrillation|idiopathic ventricular fibrillation, Brugada type clingen|ordo_disease NCBITaxon:2497576 Ellioviricetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2497576 MONDO:0015262 brachyolmia biolink:Disease mondo ICD9:756.19|ICD10:Q76.3|GARD:0010903|UMLS:C0432228|MESH:C537098|DOID:0050690|Orphanet:1293|SCTID:254088006 Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones. MESH:C537098|SNOMEDCT:254088006|ORPHA:1293|DOID:0050690|UMLS:C0432228 http://purl.obolibrary.org/obo/MONDO_0015262 brachyrachia ordo_group_of_disorders MONDO:0015261 pseudopelade of Brocq biolink:Disease mondo ICD10:L66.0|ICD9:704.09|SCTID:238731001|GARD:0004536|Orphanet:129 Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation. MESH:C531609|UMLS:C0086873|ORPHA:129|SNOMEDCT:238731001 http://purl.obolibrary.org/obo/MONDO_0015261 Brocq pseudopelade|pseudo-pelade of Brocq|pseudo pelade of Brocq ordo_disease|gard_rare NCBITaxon:2497574 Monjiviricetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2497574 MONDO:0015260 diphyllobothriasis biolink:Disease mondo ICD9:123.4|ICD10:B70.0|MESH:D004169|Orphanet:128|EFO:0007238|DOID:10075|UMLS:C0012561|GARD:0000942|NCIT:C128391|MedDRA:10013029|SCTID:187151009 Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells). ORPHA:128|UMLS:C0277032|NCIT:C128391|UMLS:C0012561|MEDDRA:10013029|MESH:D004169|DOID:10075|SNOMEDCT:187151009 http://purl.obolibrary.org/obo/MONDO_0015260 fish tapeworm|Diphyllobothrium infectious disease|Diphyllobothrium caused disease or disorder|Diphyllobothrium disease or disorder|Diphyllobothrium infection|Bothriocephalosis ordo_disease MONDO:0015267 Feingold syndrome biolink:Disease mondo Orphanet:1305|GARD:0008407|DOID:0060464|NCIT:C74987|OMIMPS:164280|ICD10:Q87.8 Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures. ORPHA:1305|DOID:0060464|NCIT:C74987 http://purl.obolibrary.org/obo/MONDO_0015267 digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|FGLDS|MMT|MODED syndrome|ODED syndrome|oculo-digito-esophageal-duodenal syndrome|FS|microcephaly-digital anomalies-normal intelligence syndrome|microcephaly-oculo-digito-esophageal-duodenal syndrome|microcephaly-intellectual disability-tracheoesophageal fistula syndrome|digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome|Brunner-Winter syndrome ordo_malformation_syndrome MONDO:0054831 Coffin-Siris syndrome 7 biolink:Disease mondo OMIM:618027|UMLS:CN248780 http://identifiers.org/omim/618027|UMLS:CN248780 http://purl.obolibrary.org/obo/MONDO_0054831 COFFIN-SIRIS syndrome 7; CSS7|CSS7 NCBITaxon:34632 Rhipicephalus sanguineus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34632 brown dog tick|Rhiphicephalus sanguineus|Ixodes sanguineus MONDO:0015266 obsolete brucellosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015266 MONDO:0015265 bronchiolitis obliterans with obstructive pulmonary disease biolink:Disease mondo ICD9:491.8|GARD:0009551|HP:0011946|EFO:0007183|Orphanet:1303|ICD10:J44.8|UMLS:CN199179|DOID:2799|NCIT:C62580|SCTID:40100001|ICD9:466.19 Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. ORPHA:1303|UMLS:CN199179|NCIT:C62580|DOID:2799|SNOMEDCT:40100001 http://purl.obolibrary.org/obo/MONDO_0015265 bo|bronchiolitis obliterans|organizing pneumonia|BOOP|constrictive bronchiolitis|bronchiolitis fibrosa obliterans|bronchiolitis exudativa|obliterative bronchiolitis|organized pneumonia gard_rare|ordo_disease MONDO:0015264 cryptogenic organizing pneumonia biolink:Disease mondo SCTID:719218000|GARD:0001620|EFO:1001300|Orphanet:1302|UMLS:C0242770|ICD9:516.36|DOID:0050157|NCIT:C62586|ICD10:J84.116|ICD10:J84.1|MESH:D018549|COHD:4045260 Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found. SNOMEDCT:719218000|UMLS:C0242770|ORPHA:1302|DOID:0050157|NCIT:C62586|MESH:D018549 http://purl.obolibrary.org/obo/MONDO_0015264 idiopathic BOOP|COP|BOOP|bronchiolitis obliterans organizing pneumonia|idiopathic bronchiolitis obliterans organizing pneumonia|idiopathic bronchiolitis obliterans with organizing pneumonia|cryptogenic organizing pneumonitis ordo_disease NCBITaxon:2497577 Insthoviricetes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2497577 NCBITaxon:34630 Rhipicephalus organism taxon mondo GC_ID:1|PMID:14707501 http://purl.obolibrary.org/obo/NCBITaxon_34630 Rhipicephalus MONDO:0005846 microsporidiosis biolink:Disease mondo DOID:4271|ICD9:117.9|SCTID:699676006|NCIT:C84891|UMLS:C0085407|GARD:0003655|Orphanet:2552|EFO:0007366|ICD10:B60.8|MedDRA:10053982|MESH:D016881 A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting. NCIT:C84891|MESH:D016881|ORPHA:2552|UMLS:C0085407|MEDDRA:10053982|DOID:4271|SNOMEDCT:699676006 http://purl.obolibrary.org/obo/MONDO_0005846 infection by Microsporida|Microsporidia infection|Microsporidia disease or disorder|infection by Microspora|Microsporidiasis|Microsporidia infectious disease|Microsporidia caused disease or disorder|infection by Microsporea ordo_disease|gard_rare MONDO:0005845 meningoencephalitis biolink:Disease mondo SCTID:7125002|UMLS:C0025309|ICD10:A69.22|ICD10:G04|NCIT:C34813|DOID:10554|EFO:0007364|MESH:D008590 Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. SNOMEDCT:7125002|UMLS:C0025309|MESH:D008590|NCIT:C34813|DOID:10554 http://purl.obolibrary.org/obo/MONDO_0005845 MONDO:0005848 miliary tuberculosis biolink:Disease mondo ICD10:A19.9|ICD9:018.80|SCTID:47604008|MESH:D014391|ICD9:018.90|UMLS:C0152915|COHD:434559|ICD9:018|ICD10:A19|UMLS:C0041321|EFO:0007368|ICD9:018.9|NCIT:C35086|DOID:9861 I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma. DOID:9861|NCIT:C35086|UMLS:C0152915|MESH:D014391|UMLS:C0041321|SNOMEDCT:47604008 http://purl.obolibrary.org/obo/MONDO_0005848 acute miliary tuberculosis|generalized tuberculosis|disseminated tuberculosis|tuberculosis miliaris disseminata MONDO:0005847 middle lobe syndrome biolink:Disease mondo SCTID:28295001|DOID:2810|MESH:D008878|EFO:0007367|UMLS:C0026069 Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed) UMLS:C0026069|SNOMEDCT:28295001|MESH:D008878|DOID:2810 http://purl.obolibrary.org/obo/MONDO_0005847 MONDO:0005842 maxillary sinusitis biolink:Disease mondo EFO:0007361|SCTID:88348008|DOID:2051|ICD10:J32.0|NCIT:C34809|UMLS:C0024959|MESH:D015523 An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus. MESH:D015523|NCIT:C34809|DOID:2051|SNOMEDCT:88348008|UMLS:C0024959 http://purl.obolibrary.org/obo/MONDO_0005842 MONDO:0005841 maxillary neoplasm biolink:Disease mondo SCTID:126550004|UMLS:C0024954|EFO:0007360|DOID:4618|MESH:D008441 Cancer or tumors of the maxilla or upper jaw. MESH:D008441|DOID:4618|UMLS:C0024954|SNOMEDCT:126550004 http://purl.obolibrary.org/obo/MONDO_0005841 bone of upper jaw neoplasm|upper jaw bone cancer|tumor of bone of upper jaw|maxillary cancer|bone of upper jaw neoplasm (disease)|maxillary neoplasm|neoplasm of bone of upper jaw|bone of upper jaw tumor MONDO:0005844 chalazion biolink:Disease mondo UMLS:C0007933|NCIT:C26717|COHD:381581|DOID:9903|SCTID:1482004|ICD10:H00.1|ICD9:373.2|MESH:D017043|EFO:0007363 An eyelid cyst caused by the blockage of a meibomian gland. SNOMEDCT:1482004|UMLS:C0007933|MESH:D017043|NCIT:C26717|DOID:9903 http://purl.obolibrary.org/obo/MONDO_0005844 chalazion|chalazia|Meibomian cyst|meibomian gland lipogranuloma|cyst, Meibomian MONDO:0005843 mediastinal cancer biolink:Disease mondo NCIT:C3549|ICD9:164.9|DOID:5559|MESH:D008479|SCTID:363494000|ICD10:C38.3|EFO:0007362 A malignant neoplasm involving the mediastinum NCIT:C3549|DOID:5559|SNOMEDCT:363494000|MESH:D008479 http://purl.obolibrary.org/obo/MONDO_0005843 malignant neoplasm of mediastinum|mediastinal tumor|malignant mediastinal tumor|malignant mediastinal neoplasm|malignant neoplasm of the mediastinum|mediastinum cancer|malignant mediastinum neoplasm|malignant mediastinal neoplasm NOS|malignant tumor of the mediastinum|malignant tumor of mediastinum|mediastinal cancer|cancer of mediastinum|cancer of the mediastinum|neoplasm of mediastinum|tumour of mediastinum CHEBI:50817 iron oxide mineral biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50817 iron oxide minerals GO:0046326 positive regulation of glucose import biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/GO_0046326 up-regulation of glucose import|activation of glucose import|upregulation of glucose import|up regulation of glucose import|positive regulation of glucose uptake|stimulation of glucose import CHEBI:50816 iron oxide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50816 GO:0046325 negative regulation of glucose import biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/GO_0046325 downregulation of glucose import|down regulation of glucose import|inhibition of glucose import|down-regulation of glucose import|negative regulation of glucose uptake MONDO:0005840 obsolete mast-cell leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005840 GO:0046324 regulation of glucose import biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/GO_0046324 regulation of glucose uptake CHEBI:37838 carboacyl group biolink:ChemicalSubstance mondo A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid. http://purl.obolibrary.org/obo/CHEBI_37838 carboxylic acyl group|carboxylic acyl groups|carboacyl groups MONDO:0017828 primary renal tubular acidosis biolink:Disease mondo Orphanet:314822|ICD10:N25.8 ORPHA:314822 http://purl.obolibrary.org/obo/MONDO_0017828 ordo_group_of_disorders UBERON:0014463 cardiac ganglion biolink:AnatomicalEntity mondo Any of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery. http://purl.obolibrary.org/obo/UBERON_0014463 cardiac ganglia set|cardiac ganglion of Wrisberg|cardiac ganglia|ganglion of Wrisberg|ganglia cardiaca|Wrisberg ganglion GO:0046323 glucose import biolink:OntologyClass mondo The directed movement of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/GO_0046323 glucose uptake GO:0046322 negative regulation of fatty acid oxidation biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation. http://purl.obolibrary.org/obo/GO_0046322 downregulation of fatty acid oxidation|down regulation of fatty acid oxidation|inhibition of fatty acid oxidation|down-regulation of fatty acid oxidation UBERON:0014464 renal fat pad biolink:AnatomicalEntity mondo Encapsulated adipose tissue associated with the kidney http://purl.obolibrary.org/obo/UBERON_0014464 perirenal fat pad MONDO:0017829 autosomal dominant proximal renal tubular acidosis biolink:Disease mondo UMLS:CN203801|Orphanet:314889|ICD10:N25.8 Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. UMLS:CN203801|ORPHA:314889 http://purl.obolibrary.org/obo/MONDO_0017829 AD pRTA|proximal renal tubular acidosis, autosomal dominant ordo_clinical_subtype GO:0046321 positive regulation of fatty acid oxidation biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of fatty acid oxidation. http://purl.obolibrary.org/obo/GO_0046321 up regulation of fatty acid oxidation|stimulation of fatty acid oxidation|up-regulation of fatty acid oxidation|activation of fatty acid oxidation|upregulation of fatty acid oxidation CHEBI:50819 ferric oxide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50819 Eisentrioxid|iron(3+) oxide|iron(III) oxide|Eisen(III)-oxid|iron trioxide|diiron trioxide CHEBI:50818 hematite biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_50818 hematite|haematite|oligiste|hematita|Blutstein|Haematit|blood stone|oligist GO:0046320 regulation of fatty acid oxidation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of fatty acid oxidation. http://purl.obolibrary.org/obo/GO_0046320 UBERON:0014466 subarachnoid fissure biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014466 NCBITaxon:46682 Heterakoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_46682 MONDO:0017835 lymphocytic hypereosinophilic syndrome biolink:Disease mondo UMLS:CN203810|ICD10:D47.5|Orphanet:314970 UMLS:CN203810|ORPHA:314970 http://purl.obolibrary.org/obo/MONDO_0017835 lymphocytic variant HES|lymphoid HES|HES-L ordo_clinical_subtype UBERON:0002481 bone tissue biolink:AnatomicalEntity mondo Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. http://purl.obolibrary.org/obo/UBERON_0002481 portion of bone tissue|calcium tissue|osteogenic tissue|mineralized bone tissue|bone|osseous tissue MONDO:0017836 erythrokeratoderma en cocardes biolink:Disease mondo UMLS:CN203813|Orphanet:315|GARD:0001722|ICD9:447.8|SCTID:239062001|ICD10:Q82.8 Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant. UMLS:CN203813|SNOMEDCT:239062001|ORPHA:315 http://purl.obolibrary.org/obo/MONDO_0017836 erythrokeratoderma 'en cocardes'|Degos 'en cocarde' erythrokeratoderma|Degos genodermatosis 'en cocardes'|Degos genodermatosis "en cocardes"|Degos genodermatosis|erythrokeratoderma "en cocardes"|erythrokeratoderma ''en cocardes'' ordo_disease|gard_rare MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome biolink:Disease mondo Orphanet:3151|UMLS:CN203814|ICD10:G37.8 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. ORPHA:3151|UMLS:CN203814 http://purl.obolibrary.org/obo/MONDO_0017837 ordo_disease CHEBI:84144 L-phenylalanine derivative biolink:ChemicalSubstance mondo A proteinogenic amino acid derivative resulting from reaction of L-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-phenylalanine by a heteroatom. http://purl.obolibrary.org/obo/CHEBI_84144 L-phenylalanine derivatives NCBITaxon:46684 Ascaridia organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_46684 MONDO:0017838 sclerosteosis biolink:Disease mondo ICD10:M85.2|NCIT:C131133|OMIMPS:269500|UMLS:C0265301|MESH:C537525|ICD9:756.59|GARD:0004771|SCTID:17568006|DOID:0060251|Orphanet:3152 Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. SNOMEDCT:17568006|ORPHA:3152|UMLS:C0265301|MESH:C537525|NCIT:C131133|DOID:0060251 http://purl.obolibrary.org/obo/MONDO_0017838 cortical hyperostosis-syndactyly syndrome|cortical hyperostosis with syndactyly ordo_malformation_syndrome CL:0002145 ciliated columnar cell of tracheobronchial tree biolink:Cell mondo FMA:70542 A ciliated columnar cell found in the trachea and bronchus. Vary from low to tall columnar; possesses up to 300 cilia at its surface, interspersed with long irregular microvilli with the cilia varying in length from about 6um in the trachea to about 4um in the terminal bronchioles; driving force of the ciliary current in the bronchial tree. http://purl.obolibrary.org/obo/CL_0002145 CHEBI:84143 D-phenylalanine derivative biolink:ChemicalSubstance mondo A non-proteinogenic amino acid derivative resulting from reaction of D-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-phenylalanine by a heteroatom. http://purl.obolibrary.org/obo/CHEBI_84143 D-phenylalanine derivatives NCBITaxon:46683 Ascaridiidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_46683 MONDO:0017831 mild Canavan disease biolink:Disease mondo ICD10:E75.2|Orphanet:314918 Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development. ORPHA:314918 http://purl.obolibrary.org/obo/MONDO_0017831 juvenile Canavan disease ordo_clinical_subtype MONDO:0017832 mycobacterium xenopi infection biolink:Disease mondo UMLS:C0275715|Orphanet:314946|GARD:0010550|ICD10:A31.8 A disease caused by infection with Mycobacterium xenopi. UMLS:C0275715|ORPHA:314946 http://purl.obolibrary.org/obo/MONDO_0017832 Mycobacterium xenopi disease or disorder|M. xenopi|Mycobacterium xenopi infectious disease|Mycobacterium xenopi caused disease or disorder|Mycobacterium xenopi ordo_disease MONDO:0017833 primary hypereosinophilic syndrome biolink:Disease mondo Orphanet:314950|ICD10:D47.5|UMLS:CN203808 UMLS:CN203808|ORPHA:314950 http://purl.obolibrary.org/obo/MONDO_0017833 clonal hypereosinophilic syndrome|primary HES|neoplastic hypereosinophilic syndrome|HES-N|HES-M ordo_disease MONDO:0017834 secondary hypereosinophilic syndrome biolink:Disease mondo UMLS:CN203809|Orphanet:314962|ICD10:D47.5 UMLS:CN203809|ORPHA:314962 http://purl.obolibrary.org/obo/MONDO_0017834 HES-R|secondary HES|reactive hypereosinophilic syndrome ordo_disease NCBITaxon:2267273 Dibothriocephalus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2267273 MONDO:0017830 severe Canavan disease biolink:Disease mondo Orphanet:314911|ICD10:E75.2|UMLS:CN203803 Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. ORPHA:314911|UMLS:CN203803 http://purl.obolibrary.org/obo/MONDO_0017830 neonatal Canavan disease|infantile Canavan disease ordo_clinical_subtype HGNC:9220 POU4F3 biolink:OntologyClass mondo http://identifiers.org/hgnc/9220 MONDO:0005839 obsolete Marburg hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005839 UBERON:0002485 prostate duct biolink:AnatomicalEntity mondo The minute canals that pass the prostatic secretions to the urethra. http://purl.obolibrary.org/obo/UBERON_0002485 duct of prostate|prostate duct|prostate gland duct|prostatic duct|duct of prostate gland MONDO:0005838 mansonelliasis biolink:Disease mondo DOID:1081|SCTID:240849009|NCIT:C84882|Orphanet:2459|UMLS:C0024759|ICD10:B74.4|EFO:0007357|GARD:0008216|MESH:D008368 A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. NCIT:C84882|ORPHA:2459|MESH:D008368|SNOMEDCT:240849009|UMLS:C0024759|DOID:1081 http://purl.obolibrary.org/obo/MONDO_0005838 Mansonella perstans infections|Mansonellosis gard_rare|ordo_disease SO:0001645 genetic_marker biolink:SequenceFeature mondo A measurable sequence feature that varies within a population. http://purl.obolibrary.org/obo/SO_0001645 genetic marker UBERON:0002486 glottis biolink:AnatomicalEntity mondo the vocal apparatus of the larynx, which includes the vocal cords and the opening between them http://purl.obolibrary.org/obo/UBERON_0002486 MONDO:0005857 morbillivirus infectious disease biolink:Disease mondo UMLS:C0206614|EFO:0007377|MESH:D018185 Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions. UMLS:C0206614|MESH:D018185 http://purl.obolibrary.org/obo/MONDO_0005857 Morbillivirus disease or disorder|Morbillivirus infectious disease|Morbillivirus caused disease or disorder MONDO:0005856 Mononegavirales infectious disease biolink:Disease mondo MESH:D018701|UMLS:C0242916|EFO:0007376 Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections. UMLS:C0242916|MESH:D018701 http://purl.obolibrary.org/obo/MONDO_0005856 Mononegavirales caused disease or disorder|Mononegavirales disease or disorder MONDO:0005859 mucocutaneous leishmaniasis biolink:Disease mondo UMLS:C1328252|ICD9:085.5|MESH:D007897|EFO:0007379|UMLS:C3495436|ICD10:B55.2|NCIT:C34769|DOID:9155 The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust. UMLS:C1328252|UMLS:C3495436|NCIT:C34769|MESH:D007897|DOID:9155 http://purl.obolibrary.org/obo/MONDO_0005859 mucocutaneous leishmaniasis, American|New World cutaneous leishmaniasis|cutaneous leishmaniasis, American|American cutaneous leishmaniasis|mucocutaneous leishmaniasis, (American)|American mucocutaneous leishmaniasis MONDO:0005858 mucinous cystadenocarcinoma biolink:Disease mondo DOID:3603|NCIT:C3776|ICDO:8470/3|MESH:D018282|UMLS:C0206699|EFO:0007378 An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. NCIT:C3776|UMLS:C0206699|DOID:3603|MESH:D018282 http://purl.obolibrary.org/obo/MONDO_0005858 mucinous cystadenocarcinoma NOS (morphologic abnormality)|mucinous cystadenocarcinoma (morphologic abnormality)|Pseudomucinous cystadenocarcinoma|mucinous cystadenocarcinoma|Pseudomucinous adenocarcinoma UBERON:0014451 tongue taste bud biolink:AnatomicalEntity mondo A taste bud that is located on the tongue, situated on a gustatory papilla. http://purl.obolibrary.org/obo/UBERON_0014451 gustatory papilla taste bud|gustatory papillae taste bud MONDO:0005853 malignant mixed neoplasm biolink:Disease mondo EFO:1000356|DOID:154|MESH:D018198|UMLS:C0206625|EFO:0007373|NCIT:C3729|ICDO:8940/3 A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. DOID:154|UMLS:C0206625|MESH:D018198|NCIT:C3729 http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed tumor|tumor, mixed, malignant|tumors, malignant mixed|mixed tumors, malignant|mixed cell type cancer|mixed neoplasm|malignant mixed cancer|mixed neoplasm, malignant|mixed tumor, malignant (morphologic abnormality)|mixed tumor|malignant mixed neoplasm|malignant mixed tumors|mixed tumor, malignant, NOS (morphologic abnormality)|mixed tumor, malignant|tumor, malignant mixed GO:1900404 positive regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of DNA repair. http://purl.obolibrary.org/obo/GO_1900404 up regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|stimulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up-regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|activation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|upregulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter MONDO:0005852 mitral valve stenosis biolink:Disease mondo COHD:315273|DOID:1754|UMLS:C0026269|MESH:D008946|SCTID:79619009|EFO:0007372 Narrowing of the left atrioventricular mitral orifice. UMLS:C0026269|NCIT:C50654|SNOMEDCT:79619009|MESH:D008946|DOID:1754 http://purl.obolibrary.org/obo/MONDO_0005852 mitral stenosis|mitral valve stenoses|mitral stenoses|valve stenoses, mitral|stenoses, mitral|stenoses, mitral valve|stenosis, mitral|stenosis, mitral valve|valve stenosis, mitral GO:1900403 obsolete negative regulation of cellular amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cellular amino acid biosynthetic process. http://purl.obolibrary.org/obo/GO_1900403 negative regulation of cellular amino acid biosynthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid anabolism by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid synthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid formation by negative regulation of transcription from RNA polymerase II promoter MONDO:0005855 molluscum contagiosum biolink:Disease mondo SCTID:40070004|MESH:D008976|UMLS:C0026393|DOID:8867|ICD10:B08.1|ICD9:078.0|EFO:0007375 A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed) UMLS:C0026393|MESH:D008976|SNOMEDCT:40070004|DOID:8867 http://purl.obolibrary.org/obo/MONDO_0005855 MONDO:0005854 mixed connective tissue disease biolink:Disease mondo NCIT:C84892|MedDRA:10027754|GARD:0007051|SCTID:398049005|MESH:D008947|ICD10:M35.1|Orphanet:809|EFO:0007374|UMLS:C0026272|DOID:3492 Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. UMLS:C0026272|ORPHA:809|DOID:3492|MESH:D008947|MEDDRA:10027754|SNOMEDCT:398049005|NCIT:C84892 http://purl.obolibrary.org/obo/MONDO_0005854 mixed collagen vascular disease|MCTD|connective tissue disease overlap syndrome|sharp syndrome gard_rare|ordo_disease CHEBI:25865 penicillanic acids biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25865 MONDO:0005851 Miller Fisher syndrome biolink:Disease mondo MedDRA:10049567|SCTID:1767005|UMLS:C0393799|MESH:D019846|NCIT:C116958|ICD10:G61.0|Orphanet:98919|DOID:12889|GARD:0003668|EFO:0007371 An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. NCIT:C116958|ORPHA:98919|MESH:D019846|DOID:12889|UMLS:C0393799|MEDDRA:10049567|SNOMEDCT:1767005 http://purl.obolibrary.org/obo/MONDO_0005851 cranial variant of Guillain-BarrC) syndrome|syndrome, Fisher|Fisher syndrome|syndrome, Miller Fisher|Miller-Fisher syndrome|Miller Fisher variant of Guillain Barre syndrome|Fisher's syndrome|syndrome, Miller-Fisher|ophthalmoplegia, ataxia and areflexia syndrome|Guillain-Barre syndrome, Miller Fisher variant|Guillain Barre syndrome, Miller Fisher variant|cranial variant of Guillain-Barré syndrome|cranial variant of GBS|Miller-Fisher variant of Guillain-Barre syndrome ordo_disease GO:1900402 obsolete regulation of carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate metabolic process. http://purl.obolibrary.org/obo/GO_1900402 regulation of carbohydrate metabolism by regulation of transcription from RNA polymerase II promoter CHEBI:37848 plant hormone biolink:ChemicalSubstance mondo A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds. http://purl.obolibrary.org/obo/CHEBI_37848 phytohormones|phytohormone|plant hormones|plant growth hormones|plant growth factor|plant growth factors|plant growth hormone MONDO:0005850 milker's nodule biolink:Disease mondo ICD10:B08.04|ICD9:051.1|SCTID:27240009|DOID:8729|MESH:D011213|UMLS:C0026143|ICD9:051.9|EFO:0007370 Virus diseases caused by the poxviridae. SNOMEDCT:27240009|MESH:D011213|DOID:8729|UMLS:C0026143 http://purl.obolibrary.org/obo/MONDO_0005850 Paravaccinia|Pseudocowpox|milker nodule|milkers' node UBERON:0014452 gustatory epithelium of tongue biolink:AnatomicalEntity mondo A gustatory epithelium that is part of a tongue. http://purl.obolibrary.org/obo/UBERON_0014452 lingual gustatory epithelium MONDO:0017817 primary localized amyloidosis biolink:Disease mondo Orphanet:314709|ICD10:E85.4 Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. ORPHA:314709 http://purl.obolibrary.org/obo/MONDO_0017817 localized AL amyloidosis ordo_clinical_subtype MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency biolink:Disease mondo Orphanet:314718|UMLS:CN203788 ORPHA:314718|UMLS:CN203788 http://purl.obolibrary.org/obo/MONDO_0017818 ordo_disease UBERON:0014453 gustatory epithelium of palate biolink:AnatomicalEntity mondo A gustatory epithelium that is part of a roof of mouth. http://purl.obolibrary.org/obo/UBERON_0014453 palatal gustatory epithelium MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency biolink:Disease mondo ICD10:K00.5|UMLS:CN203789|Orphanet:314721 ORPHA:314721|UMLS:CN203789 http://purl.obolibrary.org/obo/MONDO_0017819 dentin dysplasia type 1 with microdontia and shape anomalies ordo_clinical_subtype UBERON:0014454 visceral abdominal adipose tissue biolink:AnatomicalEntity mondo Subcutaneous adipose tissue that is located in the peritoneal cavity. http://purl.obolibrary.org/obo/UBERON_0014454 visceral fat|visceral adipose tissue|intra-abdominal adipose tissue|intra-abdominal fat|abdominal fat|organ fat UBERON:0014455 subcutaneous abdominal adipose tissue biolink:AnatomicalEntity mondo Subcutaneous adipose tissue that is located in the abdominal region. http://purl.obolibrary.org/obo/UBERON_0014455 subcutaneous abdominal fat|subcutaneous fat of abdominal region|abdominal subcutaneous adipose tissue MONDO:0017824 familial isolated pituitary adenoma biolink:Disease mondo ICD10:D35.2|UMLS:CN239192|UMLS:CN244420|Orphanet:314777|SCTID:702375004 UMLS:CN244420|UMLS:CN239192|ORPHA:314777|SNOMEDCT:702375004 http://purl.obolibrary.org/obo/MONDO_0017824 FIPA ordo_disease UBERON:0002470 autopod region biolink:AnatomicalEntity mondo Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot http://purl.obolibrary.org/obo/UBERON_0002470 autopod|autopodium|distal segment of limb|distal free limb segment|autopodium region|distal segment of free limb|autopodial limb segment|autopodial element|paw/hand/foot/hoof|manus/pes|autopodial segment|paw|pod MONDO:0017825 silent pituitary adenoma biolink:Disease mondo UMLS:CN203795|Orphanet:314786|ICD10:D35.2 UMLS:CN203795|ORPHA:314786 http://purl.obolibrary.org/obo/MONDO_0017825 ordo_histopathological_subtype UBERON:0002472 stylopod biolink:AnatomicalEntity mondo The proximal free limb segment. Includes as parts the stylopod skeleton. http://purl.obolibrary.org/obo/UBERON_0002472 stylopodial limb segment|proximal segment of free limb|propodium|proximal part of limb|stylopodium|proximal free limb segment MONDO:0017826 null pituitary adenoma biolink:Disease mondo ICD10:D35.2|Orphanet:314790|UMLS:CN203796 UMLS:CN203796|ORPHA:314790 http://purl.obolibrary.org/obo/MONDO_0017826 ordo_histopathological_subtype MONDO:0017827 malignant peripheral nerve sheath tumor biolink:Disease mondo SCTID:404037002|ICDO:9540/3|ICD10:C47.9|ICD9:171.9|GARD:0010872|ICDO:9560/3|ONCOTREE:MPNST|UMLS:C0751690|MedDRA:10029236|Orphanet:3148|DOID:5940|NCIT:C3798 Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites. ORPHA:3148|NCIT:C3798|DOID:5940|MEDDRA:10029236|UMLS:C0751690|SNOMEDCT:404037002 http://purl.obolibrary.org/obo/MONDO_0017827 malignant neurilemmoma|malignant neurilemoma|malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)|malignant peripheral nerve sheath tumour|neurogenic sarcoma|neurofibrosarcoma|malignant schwannoma|malignant neoplasm of peripheral nerve sheath|malignant neurofibroma|malignant neoplasm of the peripheral nerve sheath|malignant peripheral nerve sheath tumor|schwannoma, malignant|malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant tumor of the peripheral nerve sheath|Malig. periph. nerve sheath tum.|malignant peripheral nerve sheath neoplasm|neurofibrosarcoma, malignant|malignant tumor of peripheral nerve sheath|MPNST ordo_disease UBERON:0002471 zeugopod biolink:AnatomicalEntity mondo The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). http://purl.obolibrary.org/obo/UBERON_0002471 middle part of limb|zygopod|middle free limb segment|zeugopodium|epipodium|zeugopodial limb segment|zygopodium|zeugopod limb segment|middle segment of free limb|middle limb segment MONDO:0017820 obsolete disease with Cushing syndrome as a major feature biolink:Disease mondo Orphanet:314749|UMLS:CN203791 A disease in which Cushing syndrome is a major feature. UMLS:CN203791|ORPHA:314749 http://purl.obolibrary.org/obo/MONDO_0017820 rare disease with Cushing syndrome as a major feature CL:0002159 general ecto-epithelial cell biolink:Cell mondo FMA:70556 Epithelial cells derived from general body ectoderm and ectoderm placodes. http://purl.obolibrary.org/obo/CL_0002159 MONDO:0017821 obsolete functioning pituitary adenoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017821 MONDO:0017822 mixed functioning pituitary adenoma biolink:Disease mondo Orphanet:314759|SCTID:254961003|UMLS:C0346305 SNOMEDCT:254961003|UMLS:C0346305|ORPHA:314759 http://purl.obolibrary.org/obo/MONDO_0017822 mixed secreting pituitary adenoma ordo_group_of_disorders MONDO:0017823 somatomammotropinoma biolink:Disease mondo Orphanet:314769|ICD10:D35.2|UMLS:CN203793 UMLS:CN203793|ORPHA:314769 http://purl.obolibrary.org/obo/MONDO_0017823 Growth hormone and prolactin cosecreting pituitary adenoma|Somatoprolactinoma|GH and PRL cosecreting pituitary adenoma|Somatolactotropinoma ordo_disease UBERON:0002478 orbitosphenoid biolink:AnatomicalEntity mondo the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young http://purl.obolibrary.org/obo/UBERON_0002478 ala minor (os sphenoidale)|lesser wing of sphenoid bone|orbitosphenoid bone|orbito-sphénocïde@fr|conchosphénocïde@fr|ala minor ossis sphenoidalis|alae parvae|lesser wing of sphenoidal bone|orbitosphenoids|ingrassia's process|lesser wing of sphenoid SO:0001637 rRNA_gene biolink:SequenceFeature mondo A gene that encodes for ribosomal RNA. http://purl.obolibrary.org/obo/SO_0001637 rDNA|rRNA gene HGNC:9236 PPARG biolink:OntologyClass mondo http://identifiers.org/hgnc/9236 MONDO:0005849 milk allergic reaction biolink:Disease mondo MESH:D016269|UMLS:C0079840|DOID:4376|EFO:0007369 Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase. MESH:D016269|DOID:4376|UMLS:C0079840 http://purl.obolibrary.org/obo/MONDO_0005849 milk allergy|milk allergic reaction UBERON:0002473 intercerebral commissure biolink:AnatomicalEntity mondo A commissure that connects the two cerebral hemispheres. Examples: anterior commissure, corpus callosum. http://purl.obolibrary.org/obo/UBERON_0002473 inter-hemispheric commissure|commissure of cerebrum|interhemispheric commissure MONDO:0005824 Legionnaires' disease biolink:Disease mondo EFO:0007343|SCTID:195889001|ICD10:A48.1|MESH:D007877|NCIT:C128339|DOID:10457|ICD9:482.84 A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. SNOMEDCT:195889001|DOID:10457|NCIT:C128339|MESH:D007877 http://purl.obolibrary.org/obo/MONDO_0005824 legionnaire's disease|Legionella|Legionella pneumonia|infection by Legionella pneumophilia GO:1900418 obsolete positive regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of purine nucleotide biosynthetic process. http://purl.obolibrary.org/obo/GO_1900418 upregulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter MONDO:0005823 legionellosis biolink:Disease mondo MedDRA:10061266|EFO:0007342|ICD10:A48.1|UMLS:CN205282|SCTID:26726000|Orphanet:549|MESH:D007876|NCIT:C128334|MedDRA:10035718|DOID:10458|UMLS:C0023240 Any disease caused by Legionella bacteria. SNOMEDCT:26726000|DOID:10458|NCIT:C128334|MEDDRA:10035718|ORPHA:549|UMLS:C0023240|UMLS:C0023241|MESH:D007876|MEDDRA:10061266|UMLS:CN205282 http://purl.obolibrary.org/obo/MONDO_0005823 Legionella infection|Legionnaires disease ordo_disease MONDO:0005826 lipid pneumonia biolink:Disease mondo EFO:0007345|DOID:3241|SCTID:707449006|UMLS:C0032298|GARD:0006394|ICD10:J69.1|MESH:D011017 Pneumonia due to aspiration or inhalation of various oily or fatty substances. UMLS:C0032298|SNOMEDCT:707449006|MESH:D011017|DOID:3241 http://purl.obolibrary.org/obo/MONDO_0005826 pneumonia lipid|exogenous lipoid pneumonia|lipoid pneumonitis MONDO:0005825 leptospirosis biolink:Disease mondo EFO:0007344|ICD9:100.0|ICD10:A27.0|ICD9:100.9|ICD9:100|MESH:D007922|GARD:0007881|MedDRA:10024238|SCTID:77377001|Orphanet:509|NCIT:C84825|ICD10:A27|ICD10:A27.9|UMLS:C0023364|COHD:432246|ICD9:100.89|DOID:2297|ICD10:A27.8 A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure. NCIT:C84825|MEDDRA:10024238|SNOMEDCT:77377001|ORPHA:509|UMLS:C0023364|MESH:D007922|DOID:2297 http://purl.obolibrary.org/obo/MONDO_0005825 Weil's disease|nanukayami fever|rat catcher's yellows|harvest fever|seven day fever|Icterohemorrhagic fever|leptospirosis|cane cutter's fever|leptospirosis icterohaemorrhagica|swamp fever|swineherd's disease|Queensland fever|Leptospira disease or disorder|mud fever|fort Bragg fever|infection due to Leptospira|hemorrhagic jaundice|canicola fever|japanese autumnal fever|Weil disease|Stuttgart disease|cane-cutter fever|Leptospira infectious disease|spirochetal jaundice|rice-field worker's disease|Leptospira caused disease or disorder|rice-field fever gard_rare|ordo_disease MONDO:0005820 Lassa fever biolink:Disease mondo SCTID:19065005|NCIT:C128418|ICD9:078.89|DOID:9537|Orphanet:99824|ICD10:A96.2|EFO:0007338|MedDRA:10023927|UMLS:C0023092|MESH:D007835 A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. ORPHA:99824|NCIT:C128418|MEDDRA:10023927|SNOMEDCT:19065005|UMLS:C0023092|MESH:D007835|DOID:9537 http://purl.obolibrary.org/obo/MONDO_0005820 Lassa hemorrhagic fever|LF ordo_disease UBERON:0002459 inferior palpebral vein biolink:AnatomicalEntity mondo A blood vessel that drains from from an lower eyelid. http://purl.obolibrary.org/obo/UBERON_0002459 lower palpebral vein|venae palpebrales inferiores|vein of inferior eyelid|inferior palpebral veins set|inferior palpebral veins MONDO:0005822 latent syphilis biolink:Disease mondo EFO:0007340|COHD:40485064|SCTID:444150000|DOID:9531|ICD10:A53.0|MESH:D013592|UMLS:C0039133|ICD9:097.1|NCIT:C35056 A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease. DOID:9531|UMLS:C0039133|NCIT:C35056|MESH:D013592|SNOMEDCT:444150000 http://purl.obolibrary.org/obo/MONDO_0005822 MONDO:0005821 late congenital syphilis biolink:Disease mondo ICD10:A50.59|ICD9:090.5|DOID:10039|ICD10:A50.5|ICD9:090.4|ICD10:A50.4|ICD9:090.7|EFO:0007339|SCTID:82323002|ICD10:A50.40|ICD9:090.40 SNOMEDCT:82323002|DOID:10039 http://purl.obolibrary.org/obo/MONDO_0005821 juvenile syphilis|late congenital syphilis, symptomatic (2 years or more)|late congenital syphilis (2 years or more)|juvenile neurosyphilis|late congenital syphilis GO:1900413 obsolete positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of phospholipid biosynthetic process. http://purl.obolibrary.org/obo/GO_1900413 positive regulation of phospholipid synthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of phospholipid biosynthesis by positive regulation of transcription from RNA polymerase II promoter MONDO:0017806 15q overgrowth syndrome biolink:Disease mondo Orphanet:314585|UMLS:CN203769|ICD10:Q87.3 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. ORPHA:314585|UMLS:CN203769 http://purl.obolibrary.org/obo/MONDO_0017806 ordo_malformation_syndrome MONDO:0017807 growing teratoma syndrome biolink:Disease mondo NCIT:C118370|UMLS:C3891714|Orphanet:314613|UMLS:CN203773 A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment. ORPHA:314613|UMLS:CN203773|NCIT:C118370|UMLS:C3891714 http://purl.obolibrary.org/obo/MONDO_0017807 GTS ordo_clinical_situation MONDO:0017808 duplication of the pituitary gland biolink:Disease mondo Orphanet:314621|ICD10:Q89.2|UMLS:CN203774 ORPHA:314621|UMLS:CN203774 http://purl.obolibrary.org/obo/MONDO_0017808 hypophyseal duplication|Duplication of the pituitary gland-plus syndrome|DPG-plus syndrome ordo_morphological_anomaly MONDO:0017809 parkinsonism due to ATP13A2 deficiency biolink:Disease mondo ICD10:E75.4|Orphanet:314632|UMLS:CN203776 ORPHA:314632|UMLS:CN203776 http://purl.obolibrary.org/obo/MONDO_0017809 CLN12 disease ordo_disease FOODON:03411998 decapod biolink:OntologyClass mondo The Decapoda or decapods (literally "ten-footed") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda] http://purl.obolibrary.org/obo/FOODON_03411998 MONDO:0017813 van Maldergem syndrome biolink:Disease mondo Orphanet:314679|OMIMPS:601390|DOID:0060238|GARD:0005456|UMLS:CN203783 Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. UMLS:CN203783|ORPHA:314679|DOID:0060238 http://purl.obolibrary.org/obo/MONDO_0017813 Van Maldergem Wetzburger Verloes syndrome|cerebro-facio-articular syndrome|Van Maldergem syndrome|cerebro-facio-articular syndrome of Van Maldergem ordo_malformation_syndrome CL:0002122 B220-positive CD38-positive IgG-negative class switched memory B cell biolink:Cell mondo A B220-positive CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-positive, CD38-positive, and IgG-negative. http://purl.obolibrary.org/obo/CL_0002122 MONDO:0017814 primary bone lymphoma biolink:Disease mondo Orphanet:314684|UMLS:C1332582|DOID:6759|SCTID:766935007|ICD10:C85,7|ICD10:C85.7|NCIT:C6620 A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease. SNOMEDCT:766935007|DOID:6759|UMLS:C1332582|ORPHA:314684|NCIT:C6620 http://purl.obolibrary.org/obo/MONDO_0017814 bone tissue lymphoma|lymphoma of bone|primary lymphoma of bone|lymphoma of the bone|primary lymphoma of the bone|lymphoma of bone tissue|bone lymphoma ordo_disease CL:0002121 CD24-negative CD38-negative IgG-negative class switched memory B cell biolink:Cell mondo A CD24-negative CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-negative, CD38-negative, and IgG-negative. http://purl.obolibrary.org/obo/CL_0002121 UBERON:0002461 anterior abdominal wall muscle biolink:AnatomicalEntity mondo Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus http://purl.obolibrary.org/obo/UBERON_0002461 ventral abdominal wall muscle|muscle of anterior abdominal wall MONDO:0017815 acquired porencephaly biolink:Disease mondo SCTID:38837006|ICD10:G93.0|UMLS:C0151860|Orphanet:314697 An instance of porencephaly that is acquired during the lifetime of the individual. SNOMEDCT:38837006|UMLS:C0151860|ORPHA:314697 http://purl.obolibrary.org/obo/MONDO_0017815 acquired porencephaly ordo_etiological_subtype CL:0002123 B220-low CD38-positive IgG-negative class switched memory B cell biolink:Cell mondo A B220-low CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-low, CD38-positive, and IgG-positive. http://purl.obolibrary.org/obo/CL_0002123 MONDO:0017816 primary systemic amyloidosis biolink:Disease mondo UMLS:C0268380|ICD10:E85.3|ICD10:E85.2|SCTID:89449005|ICD10:E85.1|ICD10:E85.0|Orphanet:314701|NCIT:C8299|UMLS:C0281479 Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. SNOMEDCT:89449005|UMLS:C0268380|NCIT:C8299|UMLS:C0281479|ORPHA:314701 http://purl.obolibrary.org/obo/MONDO_0017816 systemic AL amyloidosis|systemic Immunoglobulin Light chain amyloidosis|systemic amyloidosis ordo_clinical_subtype UBERON:0002460 vesical vein biolink:AnatomicalEntity mondo A tributary of the iliac vein that drains the urinary bladder. http://purl.obolibrary.org/obo/UBERON_0002460 vesical veins set|venae vesicales|vesical veins GO:0061983 meiosis II cell cycle process biolink:OntologyClass mondo A process that coontributes to the second meiotic division. The second meiotic division separates chromatids resulting in a haploid number of chromosomes. http://purl.obolibrary.org/obo/GO_0061983 second meiotic division MONDO:0017810 variant ABeta2M amyloidosis biolink:Disease mondo UMLS:CN203779|ICD10:E85.1|SCTID:722292000|Orphanet:314652|UMLS:C4302669 A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. SNOMEDCT:722292000|UMLS:CN203779|ORPHA:314652|UMLS:C4302669 http://purl.obolibrary.org/obo/MONDO_0017810 autosomal dominant beta2-microglobulinic amyloidosis ordo_disease MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion biolink:Disease mondo ICD10:Q93.5|Orphanet:314655|SCTID:768555009|UMLS:CN203780 UMLS:CN203780|SNOMEDCT:768555009|ORPHA:314655 http://purl.obolibrary.org/obo/MONDO_0017811 monosomy 5q31.3|5q31.3 microdeletion syndrome|Del(5)(q31.3) ordo_clinical_subtype MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia biolink:Disease mondo UMLS:CN203781|Orphanet:314662 UMLS:CN203781|ORPHA:314662 http://purl.obolibrary.org/obo/MONDO_0017812 ordo_disease GO:0071305 cellular response to vitamin D biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. http://purl.obolibrary.org/obo/GO_0071305 cellular response to ergocalciferol|cellular response to calciferol|cellular response to cholecalciferol UBERON:0002466 intestine secretion biolink:AnatomicalEntity mondo Clear to pale yellow watery secretions from the glands lining the small intestine walls. Secretion is stimulated by the mechanical pressure of partly digested food in the intestine. http://purl.obolibrary.org/obo/UBERON_0002466 intestinal juice|succus entericus|intestinal secretion UBERON:0002469 esophagus mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002469 esophagus mucosa|oesophagus mucosa|mucous membrane of esophagus|tunica mucosa esophagi|esophageal mucous membrane|oesophageal mucosa|lamina muscularis mucosae oesophageae|mucosa of esophagus|esophageal mucosa|tunica mucosa oesophagi|tunica mucosa oesophageae|oesophagus mucous membrane|muscularis mucosae of oesophagus|esophagus mucous membrane|tunica mucosa oesophagi|mucosa of oesophagus|mucous membrane of oesophagus MONDO:0005817 Kluver-Bucy syndrome biolink:Disease mondo EFO:0007335|GARD:0006840|SCTID:10651001|MESH:D020232|MedDRA:10066431|NCIT:C84802|Orphanet:157823|DOID:2510 Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications. DOID:2510|ORPHA:157823|MESH:D020232|NCIT:C84802|MEDDRA:10066431|SNOMEDCT:10651001|UMLS:C0270707 http://purl.obolibrary.org/obo/MONDO_0005817 post-encephalitic Kluver Bucy syndrome (type)|KLüver-Bucy syndrome|memory loss, extreme sexual behavior, placidity, and visual distractibility|Klver-Bucy syndrome|bilateral temporal lobe disorder|KLuever-Bucy syndrome|temporal lobectomy behavior syndrome|post-traumatic Kluver Bucy syndrome (type)|syndrome, Kluver-Bucy|Kluver Bucy syndrome gard_rare|ordo_clinical_syndrome NCBITaxon:455381 Capillariidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_455381 MONDO:0005816 obsolete Japanese encephalitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005816 MONDO:0005819 laryngeal tuberculosis biolink:Disease mondo EFO:0007337|ICD10:A15.5|ICD9:012.3|MESH:D014387|SCTID:70341005|ICD9:012.30|NCIT:C26895|ICD9:012.32|DOID:1583|ICD9:012.31|UMLS:C0041315 Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare. SNOMEDCT:70341005|DOID:1583|NCIT:C26895|MESH:D014387|UMLS:C0041315 http://purl.obolibrary.org/obo/MONDO_0005819 larynx tuberculosis|tuberculous laryngitis UBERON:0002465 lymphoid system biolink:AnatomicalEntity mondo The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. http://purl.obolibrary.org/obo/UBERON_0002465 lymphatic circulatory system|lymphatic system|lymphatic drainage system|systema lymphoideum CL:0002120 CD24-positive CD38-negative IgG-negative class switched memory B cell biolink:Cell mondo An CD24-positive CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-positive, CD38-negative, and IgG-negative. http://purl.obolibrary.org/obo/CL_0002120 MONDO:0005818 obsolete Langerhans cell sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005818 MONDO:0005835 Lynch syndrome biolink:Disease mondo MedDRA:10051981|SCTID:716318002|NCIT:C8494|DOID:3883|ICD10:D48.9|Orphanet:144|EFO:0007354 An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. MESH:D003123|ORPHA:144|SNOMEDCT:716318002|UMLS:C1333990|NCIT:C8494|MEDDRA:10051981|DOID:3883 http://purl.obolibrary.org/obo/MONDO_0005835 hereditary nonpolyposis colorectal neoplasm|Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|hereditary non-polyposis colon cancer type 1|Hereditary colorectal endometrial cancer syndrome|hereditary nonpolyposis colorectal cancer|HNPCC - hereditary nonpolyposis colon cancer|hereditary defective mismatch repair syndrome|coca 1|familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) clingen|ordo_disease MONDO:0005834 lymphogranuloma venereum biolink:Disease mondo EFO:0007353|ICD10:A55|SCTID:186946009|ICD9:099.1|UMLS:C0024286|DOID:13819|COHD:194287|NCIT:C26822|MESH:D008219|GARD:0009545 Infection with the organism Mycobacterium. NCIT:C26822|SNOMEDCT:186946009|MESH:D008219|UMLS:C0024286|DOID:13819 http://purl.obolibrary.org/obo/MONDO_0005834 lymphogranuloma inguinale|Durand-Nicolas-Favre disease|strumous bubo|lymph granuloma inguinale|LGV|Poradenitis inguinale|climatic or tropical bubo gard_rare MONDO:0005837 mandibular cancer biolink:Disease mondo DOID:2338|SCTID:448668007|COHD:40490993|MESH:D008339|ICD9:170.1|NCIT:C35178|EFO:0007356|ICD10:C41.1 A malignant neoplasm involving the mandible NCIT:C35178|SNOMEDCT:448668007|MESH:D008339|DOID:2338 http://purl.obolibrary.org/obo/MONDO_0005837 neoplasm of mandible|mandibular neoplasm|malignant neoplasm of mandible|malignant mandible neoplasm|malignant neoplasm of lower jaw bone|cancer of mandible|mandible cancer|malignant neoplasm of inferior maxilla MONDO:0005836 male reproductive organ cancer biolink:Disease mondo ICD10:C60-C63|NCIT:C8561|DOID:3856|ICD10:C63.9|MESH:D005834|SCTID:363515000|ICD9:187.9|EFO:0007355|ICD9:187.8 A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma. MESH:D005834|SNOMEDCT:363515000|NCIT:C8561|DOID:3856 http://purl.obolibrary.org/obo/MONDO_0005836 malignant neoplasm of male reproductive organ|Male reprod. system cancer, NOS|malignant tumor of male genital organ|malignant tumor of Male reproductive system|malignant Male reproductive system neoplasm|malignant tumor of the Male reproductive system|malignant neoplasm of male genital organs|male genital cancer|male reproductive organ cancer|malignant neoplasm of male genital organ, site unspecified|malignant neoplasm of Male reproductive system|male genital neoplasm|neoplasm of male genital organ|malignant neoplasm of the Male reproductive system|malignant Male reproductive system tumor|malignant male reproductive organ neoplasm|cancer of male reproductive organ|male reproductive system neoplasm|malignant neoplasm of male genital organ, NOS|tumor of male reproductive system|malignant neoplasm of male genital organ|malignant tumor of male reproductive system|malignant neoplasm of male genital organ or tract|Male reproductive system cancer, NOS GO:1900426 positive regulation of defense response to bacterium biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of defense response to bacterium. http://purl.obolibrary.org/obo/GO_1900426 up-regulation of defence response to bacterium|up-regulation of antibacterial peptide activity|up-regulation of defense response to bacterium|upregulation of defence response to bacteria|upregulation of defense response to bacteria|up regulation of defense response to bacterium|up regulation of defence response to bacterium|positive regulation of defence response to bacteria|positive regulation of defense response to bacteria|activation of defense response to bacterium|positive regulation of defence response to bacterium|up regulation of defence response to bacteria|up regulation of defense response to bacteria|activation of antibacterial peptide activity|upregulation of antibacterial peptide activity|upregulation of defense response to bacterium|up-regulation of defence response to bacteria|up-regulation of defense response to bacteria|upregulation of defence response to bacterium|activation of defence response to bacterium|positive regulation of antibacterial peptide activity|up regulation of antibacterial peptide activity|activation of defense response to bacteria|activation of defence response to bacteria MONDO:0005831 lymph node tuberculosis biolink:Disease mondo EFO:0007350|ICD10:A18.2|SCTID:10893003|DOID:4889|NCIT:C26896|MESH:D014388 Tuberculosis of the lymph node. SNOMEDCT:10893003|MESH:D014388|DOID:4889|NCIT:C26896 http://purl.obolibrary.org/obo/MONDO_0005831 lymph node tuberculosis|tuberculous lymphadenopathy|tuberculous adenitis|king's evil|scrofula GO:1900425 negative regulation of defense response to bacterium biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium. http://purl.obolibrary.org/obo/GO_1900425 downregulation of defence response to bacterium|downregulation of defense response to bacterium|downregulation of antibacterial peptide activity|down-regulation of defense response to bacteria|down-regulation of defence response to bacteria|negative regulation of defense response to bacteria|negative regulation of defence response to bacteria|inhibition of defense response to bacterium|inhibition of defense response to bacteria|inhibition of defence response to bacteria|down regulation of antibacterial peptide activity|inhibition of defence response to bacterium|down-regulation of antibacterial peptide activity|negative regulation of antibacterial peptide activity|down-regulation of defence response to bacterium|downregulation of defence response to bacteria|negative regulation of defence response to bacterium|downregulation of defense response to bacteria|down-regulation of defense response to bacterium|inhibition of antibacterial peptide activity|down regulation of defense response to bacterium|down regulation of defence response to bacterium|down regulation of defence response to bacteria|down regulation of defense response to bacteria HGNC:9251 CTSA biolink:OntologyClass mondo http://identifiers.org/hgnc/9251 MONDO:0005830 lumpy skin disease biolink:Disease mondo MESH:D008166|EFO:0007349|UMLS:C0024106 A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin. MESH:D008166|UMLS:C0024106 http://purl.obolibrary.org/obo/MONDO_0005830 MONDO:0005833 lymphatic system disease biolink:Disease mondo EFO:0007352|MESH:D008206|SCTID:362971004|DOID:75|NCIT:C50764|UMLS:C0024228 A disease involving the lymphatic part of lymphoid system. DOID:75|SNOMEDCT:362971004|MESH:D008206|UMLS:C0024228|NCIT:C50764 http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic disease|swollen gland|lymphatic part of lymphoid system disease|disorder of lymphatic part of lymphoid system|disease of lympoid system|disorder of lymph node and lymphatics|disease or disorder of lymphatic part of lymphoid system|disorder of lymphatic system|lymphangiopathy|glands, swollen|lymphadenopathy|disorder of lymphoid system|disease of lymphatic part of lymphoid system|swollen glands|lymphatic part of lymphoid system disease or disorder|lymphangiopathy, NOS|lympoid system disease|adenopathy|disorder of lymphatic part of lymphoid system|lymphatic disorder MONDO:0005832 lymphangitis biolink:Disease mondo COHD:439840|EFO:0007351|UMLS:C0024225|ICD9:457.2|NCIT:C34790|SCTID:1415005|MESH:D008205|ICD10:I89.1|DOID:9317 Inflammation of the lymphatic vessels. MESH:D008205|NCIT:C34790|UMLS:C0024225|SNOMEDCT:1415005|DOID:9317 http://purl.obolibrary.org/obo/MONDO_0005832 lymphatic vessel inflammation|inflammation of lymphatic vessel GO:1900424 regulation of defense response to bacterium biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of defense response to bacterium. http://purl.obolibrary.org/obo/GO_1900424 regulation of antibacterial peptide activity|regulation of defence response to bacteria|regulation of defense response to bacteria|regulation of defence response to bacterium MONDO:0017802 ovarian fibrothecoma biolink:Disease mondo ICD10:D27|SCTID:765190005|UMLS:CN203762|Orphanet:314478 10cm) are often associated with pleural effusion and ascytes (the Meig's syndrome triad). UMLS:CN203762|SNOMEDCT:765190005|ORPHA:314478 http://purl.obolibrary.org/obo/MONDO_0017802 ordo_disease MONDO:0017803 primary progressive apraxia of speech biolink:Disease mondo UMLS:CN203766|Orphanet:314566 UMLS:CN203766|ORPHA:314566 http://purl.obolibrary.org/obo/MONDO_0017803 PPAOS ordo_disease MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome biolink:Disease mondo Orphanet:314572|UMLS:CN203767 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. UMLS:CN203767|ORPHA:314572 http://purl.obolibrary.org/obo/MONDO_0017804 ordo_disease MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome biolink:Disease mondo Orphanet:314575|UMLS:CN203768 UMLS:CN203768|ORPHA:314575 http://purl.obolibrary.org/obo/MONDO_0017805 ordo_malformation_syndrome MONDO:0017800 pseudo-Meigs syndrome biolink:Disease mondo UMLS:CN203759|Orphanet:314459|ICD10:D27 UMLS:CN203759|ORPHA:314459 http://purl.obolibrary.org/obo/MONDO_0017800 pseudo-Demons-Meigs syndrome ordo_clinical_syndrome CL:0002139 endothelial cell of vascular tree biolink:Cell mondo BTO:0001854|FMA:67755|CALOHA:TS-1106 An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. http://purl.obolibrary.org/obo/CL_0002139 vascular endothelial cell|cubodial endothelial cell of vascular tree CL:0002138 endothelial cell of lymphatic vessel biolink:Cell mondo BTO:0004167|FMA:68458 A endothelial cell of a lymphatic vessel. The border of the oak leaf-shaped endothelial cell of initial lymphatics are joined by specialized buttons. The discontinuous feature of buttons distinguishes them from zippers in collecting lymphatics, but both types of junctions are composed of proteins typical of adherens junctions and tight junctions found in the endothelium of blood vessels. Buttons seal the sides of flaps of the oak leaf-shaped endothelial cell, leaving open the tips of flaps as routes for fluid entry without disassembly and reformation of intercellular junctions. http://purl.obolibrary.org/obo/CL_0002138 LEC|lymphatic endothelial cell MONDO:0017801 atypical Meigs syndrome biolink:Disease mondo ICD10:D27|UMLS:CN203760|Orphanet:314466 UMLS:CN203760|ORPHA:314466 http://purl.obolibrary.org/obo/MONDO_0017801 atypical Demons-Meigs syndrome|incomplete Meigs syndrome ordo_clinical_syndrome UBERON:0002456 internal thoracic artery biolink:AnatomicalEntity mondo An artery that supplies the anterior chest wall and the breasts. It is a paired artery, with one running along each side of the sternum, to continue after its bifurcation as the superior epigastric and musculophrenic arteries. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002456 arteria thoracica interna|mammary artery|internal thoracic mammary artery|arteria mammaria interna|internal mammary artery HGNC:9255 PPIB biolink:OntologyClass mondo http://identifiers.org/hgnc/9255 UBERON:0002458 spinal artery biolink:AnatomicalEntity mondo Arteries that supply the spinal cord. http://purl.obolibrary.org/obo/UBERON_0002458 spinal arteries UBERON:0002457 intersomitic artery biolink:AnatomicalEntity mondo The small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries http://purl.obolibrary.org/obo/UBERON_0002457 intersegmental arteries|intersegmental artery MONDO:0005828 listeriosis biolink:Disease mondo UMLS:C0023860|DOID:11573|NCIT:C82994|COHD:438059|GARD:0006915|ICD10:A32.8|ICD10:A32|ICD10:A32.7|MESH:D008088|ICD10:A32.9|MedDRA:10024641|ICD9:027.0|ICD10:A32.1|ICD10:A32.0|EFO:0007347|Orphanet:533 A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy. UMLS:C0023860|DOID:11573|MEDDRA:10024641|NCIT:C82994|MESH:D008088|ORPHA:533 http://purl.obolibrary.org/obo/MONDO_0005828 Listeria monocytogenes infectious disease|Listeria monocytogenes caused disease or disorder|Listeria monocytogenes disease or disorder|Listeria infection|Listeria monocytogenes infection|infection by Listeria monocytogenes ordo_disease MONDO:0005827 lipoatrophic diabetes biolink:Disease mondo DOID:11712|NCIT:C34537|MESH:D003923|EFO:0007346 A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism. DOID:11712|MESH:D003923|NCIT:C34537 http://purl.obolibrary.org/obo/MONDO_0005827 lipoatrophic diabetes mellitus|lipoatrophic diabetes|diabetes, lipoatrophic|Diabete, lipoatrophic|lipoatrophic Diabete UBERON:0002451 endometrial gland biolink:AnatomicalEntity mondo The mucous secreting gland associated with the mucuous membrane lining the uterus. http://purl.obolibrary.org/obo/UBERON_0002451 glandulae uterinae|endometrial mucuous gland|endometrial gland|endometrium gland|glandulae uterinae|uterine gland MONDO:0005829 louping ill biolink:Disease mondo MESH:D008146|DOID:10250|EFO:0007348|ICD10:A84.8|ICD9:063.1|UMLS:C0024025 An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep. DOID:10250|MESH:D008146|UMLS:C0024025 http://purl.obolibrary.org/obo/MONDO_0005829 Louping ill UBERON:0002453 ethmoid sinus biolink:AnatomicalEntity mondo the evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses http://purl.obolibrary.org/obo/UBERON_0002453 ethmoidal air cell|ethmoidal bone sinus|cellulae ethmoidales|ethmoidal sinus OBO:chebi#has_functional_parent has functional parent biolink:OntologyClass mondo http://purl.obolibrary.org/obo/chebi#has_functional_parent MONDO:0003227 prosopagnosia (disease) biolink:Disease mondo DOID:4970|ICD10:R48.3|HP:0010528|NCIT:C85031 Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury. DOID:4970|NCIT:C85031 http://purl.obolibrary.org/obo/MONDO_0003227 prosopagnosia|face blindness MONDO:0005889 orthomyxoviridae infectious disease biolink:Disease mondo MESH:D009976|EFO:0007411 Virus diseases caused by the orthomyxoviridae. MESH:D009976 http://purl.obolibrary.org/obo/MONDO_0005889 Orthomyxoviridae caused disease or disorder|Orthomyxoviridae disease or disorder|Orthomyxoviridae infectious disease MONDO:0003228 obsolete myelodysplastic/myeloproliferative neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003228 MONDO:0003229 obsolete lymphedema biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003229 MONDO:0003223 meninges hemangiopericytoma biolink:Disease mondo SCTID:277522009|NCIT:C4660|ONCOTREE:HPCCNS|UMLS:C0349622|DOID:4957 A solitary fibrous tumor/hemangiopericytoma that arises from the meninges. DOID:4957|UMLS:C0349622|SNOMEDCT:277522009|NCIT:C4660 http://purl.obolibrary.org/obo/MONDO_0003223 hemangiopericytoma of the meninges|hemangiopericytoma of the central nervous system|meningeal hemangiopericytoma|meningeal cluster spindle cell tumor|meningeal solitary fibrous tumor/hemangiopericytoma|meningeal cluster hemangiopericytoma|meninges hemangiopericytoma|hemangiopericytoma of meninges MONDO:0005886 oral candidiasis biolink:Disease mondo MESH:D002180|ICD10:B37.9|SCTID:79740000|COHD:29735|DOID:14262|ICD9:112.0|NCIT:C28137|ICD10:B37.0|UMLS:C0006849|EFO:0007406 Infection of the mucosal lining of the mouth with the fungus Candida albicans. NCIT:C28137|UMLS:C0006849|SNOMEDCT:79740000|MESH:D002180|DOID:14262 http://purl.obolibrary.org/obo/MONDO_0005886 thrush|candidiasis of mouth|oral moniliasis|thrush, oral|mouth candidiasis MONDO:0005885 optic neuritis biolink:Disease mondo NCIT:C84950|MESH:D009902|ICD9:377.3|ICD9:377.39|ICD10:H46|ICD9:377.30|GARD:0007320|COHD:374954|DOID:1210|ICD10:H46.9|SCTID:66760008|EFO:0007405 Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated. DOID:1210|SNOMEDCT:66760008|NCIT:C84950|MESH:D009902 http://purl.obolibrary.org/obo/MONDO_0005885 gard_rare MONDO:0003224 obsolete spindle cell hemangioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003224 MONDO:0003225 bone marrow disease biolink:Disease mondo UMLS:C0005956|ICD9:289.9|DOID:4961|SCTID:127035006|MESH:D001855|NCIT:C34433 Any disease of the bone marrow. MESH:D001855|NCIT:C34433|DOID:4961|UMLS:C0005956|SNOMEDCT:127035006 http://purl.obolibrary.org/obo/MONDO_0003225 disease of bone marrow|bone marrow disease or disorder|bone marrow disorder|disorder of bone marrow|disorder of bone marrow|disease or disorder of bone marrow|bone marrow disease MONDO:0005888 ornithosis biolink:Disease mondo NCIT:C34873|MESH:D009956|SCTID:75116005|EFO:0007410|ICD9:073|ICD9:073.9|UMLS:C0029291|DOID:11262|GARD:0007492|ICD10:A70 Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans. MESH:D009956|NCIT:C34873|SNOMEDCT:75116005|DOID:11262|UMLS:C0029291 http://purl.obolibrary.org/obo/MONDO_0005888 psittacosis MONDO:0005887 oral tuberculosis biolink:Disease mondo UMLS:C0041323|MESH:D014393|ICD9:528.9|ICD9:017.90|SCTID:235067001|DOID:402|EFO:0007407 Tuberculosis of the mouth, tongue, and salivary glands. UMLS:C0041323|MESH:D014393|DOID:402|SNOMEDCT:235067001 http://purl.obolibrary.org/obo/MONDO_0005887 MONDO:0003226 obsolete Nelson syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003226 MONDO:0005882 obsolete onchocerciasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005882 CL:0002108 CD38-negative IgG memory B cell biolink:Cell mondo A CD38-negative IgG memory B cell is a IgG-positive class switched memory B cell that has class switched and expresses IgG on the cell surface with the phenotype CD38-negative, IgD-negative, and IgG-positive. http://purl.obolibrary.org/obo/CL_0002108 MONDO:0005881 oligohydramnios (disease) biolink:Disease mondo DOID:12215|EFO:0007401|MESH:D016104|HP:0001562|SCTID:59566000|ICD10:O41.00|ICD9:658.0|ICD9:658.00|ICD10:O41.0 A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. DOID:12215|MESH:D016104|SNOMEDCT:59566000|NCIT:C92839 http://purl.obolibrary.org/obo/MONDO_0005881 antepartum oligohydramnios|oligohydramnios|delivered oligohydramnios|oligohydramnios - delivered MONDO:0003220 gallbladder carcinoma biolink:Disease mondo UMLS:C0235782|EFO:1001956|DOID:4948|NCIT:C3844|SCTID:372140005 A carcinoma that arises from epithelial cells of the gall bladder DOID:4948|UMLS:C0235782|NCIT:C3844|SNOMEDCT:372140005 http://purl.obolibrary.org/obo/MONDO_0003220 carcinoma gallbladder|gallbladder carcinoma|cancer of the gallbladder|Gall bladder carcinoma (adenocarcinoma)|carcinoma of the gallbladder|carcinoma of gallbladder|cancer of gallbladder|carcinoma of gall bladder|gall bladder carcinoma|Gall bladder carcinoma (adeno)|gallbladder cancer CL:0002107 IgD-negative CD38-positive IgG memory B cell biolink:Cell mondo An IgD-negative CD38-positive IgG memory B cell is a CD38-positive IgG-positive that has class switched and lacks expression of IgD on the cell surface with the phenotype IgD-negative, CD38-positive, and IgG-positive. http://purl.obolibrary.org/obo/CL_0002107 MONDO:0005884 opisthorchiasis biolink:Disease mondo GARD:0009746|ICD9:121.0|MESH:D009889|SCTID:1059007|UMLS:C0029106|DOID:13768|ICD10:B66.0|EFO:0007404 Infection with flukes of the genus Opisthorchis. DOID:13768|UMLS:C0029106|SNOMEDCT:1059007|MESH:D009889 http://purl.obolibrary.org/obo/MONDO_0005884 infection due to Opisthorchis (felineus)(viverrini)|infection due to cat liver fluke|infection by Opisthorchis gard_rare MONDO:0003221 obsolete sclerosing hemangioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003221 MONDO:0003222 central nervous system melanocytic neoplasm biolink:Disease mondo EFO:1000493|UMLS:C1332887|SCTID:277523004|NCIT:C5504|DOID:4955 A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion. DOID:4955|SNOMEDCT:277523004|NCIT:C5504|UMLS:C1332887 http://purl.obolibrary.org/obo/MONDO_0003222 melanocytic tumor of central nervous system|melanocytic tumor of the CNS|melanocytic tumor of the central nervous system|central nervous system primary melanocytic lesion|melanocytic tumor of CNS|CNS melanocytic neoplasm|primary melanocytic lesion of meninges|primary melanocytic lesions of the CNS|melanocytic neoplasm of the CNS|melanocytic neoplasm of CNS|CNS melanocytic tumor|central nervous system melanocytic tumor|melanocytic neoplasm of central nervous system|central nervous system melanocytic neoplasms|melanocytic neoplasm of the central nervous system|central nervous system melanocytic neoplasm MONDO:0005883 ophthalmic herpes zoster biolink:Disease mondo EFO:0007403|ICD9:053.29|COHD:372828|UMLS:C0019364|GARD:0009721|MESH:D006563|SCTID:87513003 Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. UMLS:C0019364|MESH:D006563|SNOMEDCT:87513003 http://purl.obolibrary.org/obo/MONDO_0005883 Herpes zoster ophthalmicus (HZO)|herpes zoster ophthalmicus|HZO CL:0002109 B220-positive CD38-positive naive B cell biolink:Cell mondo A B220-positive CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-positive, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery. http://purl.obolibrary.org/obo/CL_0002109 B220+CD38+ naive B cell|CD38+B220+ naive B cell|B220-positive CD38-positive naive B-cell|B220+CD38+ naive B-cell|CD38+B220+ naive B-cell|B220+CD38+ naive B lymphocyte|CD38+B220+ naive B lymphocyte|B220-positive CD38-positive naive B lymphocyte|CD38+B220+ naive B-lymphocyte|B220-positive CD38-positive naive B-lymphocyte|B220+CD38+ naive B-lymphocyte HP:0031064 Impaired continence biolink:PhenotypicFeature mondo Partial or total incontinence of bowel or bladder. http://purl.obolibrary.org/obo/HP_0031064 MONDO:0005880 oesophagostomiasis biolink:Disease mondo EFO:0007400|SCTID:22500005|UMLS:C0028887|MESH:D009814|DOID:3983|ICD9:127.7 Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans. DOID:3983|SNOMEDCT:22500005|UMLS:C0028887|MESH:D009814 http://purl.obolibrary.org/obo/MONDO_0005880 infection by Oesophagostomum|Oesophagostomum disease or disorder|Oesophagostomum infectious disease|Oesophagostomum caused disease or disorder GO:0046364 monosaccharide biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of monosaccharides, polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. http://purl.obolibrary.org/obo/GO_0046364 monosaccharide formation|monosaccharide anabolism|monosaccharide biosynthesis|monosaccharide synthesis MONDO:0017879 hantavirus pulmonary syndrome biolink:Disease mondo MESH:D018804|GARD:0000069|UMLS:C0243025|DOID:14472|SCTID:120639003|MedDRA:10019143|ICD10:J17.1*|Orphanet:319247|NCIT:C84747|EFO:0007296|ICD9:480.8|ICD10:B33.4+ An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems. DOID:14472|MESH:D018804|UMLS:C0243025|ORPHA:319247|NCIT:C84747|MEDDRA:10019143|SNOMEDCT:120639003 http://purl.obolibrary.org/obo/MONDO_0017879 four corners hantavirus|Hantavirus|HARDS|Hantavirus-associated respiratory distress syndrome ordo_disease|gard_rare MONDO:0015216 syndromic diaphragmatic or abdominal wall malformation biolink:Disease mondo UMLS:CN226633|Orphanet:108979 A diaphragmatic or abdominal wall malformation that is part of a larger syndrome. ORPHA:108979|UMLS:CN226633 http://purl.obolibrary.org/obo/MONDO_0015216 syndromic diaphragmatic or abdominal wall malformation|syndrome associated with diaphragmatic or abdominal wall malformation|syndrome associated with diaphragmatic or abdominal wall malformation ordo_group_of_disorders MONDO:0015215 non-syndromic diaphragmatic or abdominal wall malformation biolink:Disease mondo Orphanet:108977 A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. ORPHA:108977 http://purl.obolibrary.org/obo/MONDO_0015215 isolated diaphragmatic or abdominal wall malformation|nonsyndromic diaphragmatic or abdominal wall malformation|isolated diaphragmatic or abdominal wall malformation ordo_group_of_disorders MONDO:0015214 syndromic visceral malformation biolink:Disease mondo UMLS:CN226631|Orphanet:108973 ORPHA:108973|UMLS:CN226631 http://purl.obolibrary.org/obo/MONDO_0015214 ordo_group_of_disorders CL:0002102 CD38-negative naive B cell biolink:Cell mondo A CD38-negative naive B cell is a mature B cell that has the phenotype CD38-negative, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery. http://purl.obolibrary.org/obo/CL_0002102 CD38- naive B cell|CD38- naive B-cell|CD38- naive B lymphocyte|CD38- naive B-lymphocyte|CD38-negative naive B-cell|CD38-negative naive B lymphocyte|CD38-negative naive B-lymphocyte CL:0002101 CD38-positive naive B cell biolink:Cell mondo A CD38-positive naive B cell is a mature B cell that has the phenotype CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery. http://purl.obolibrary.org/obo/CL_0002101 CD38+ naive B cell|CD38-positive naive B-lymphocyte|CD38+ naive B-cell|CD38+ naive B lymphocyte|CD38+ naive B-lymphocyte|CD38-positive naive B-cell|CD38-positive naive B lymphocyte MONDO:0015213 non-syndromic visceral malformation biolink:Disease mondo Orphanet:108971 ORPHA:108971 http://purl.obolibrary.org/obo/MONDO_0015213 isolated visceral malformation|nonsyndromic visceral malformation ordo_group_of_disorders CL:0002104 IgG-negative double negative memory B cell biolink:Cell mondo An IgG-negative double negative memory B cell is a double negative memory B cell with the phenotype IgG-negative, IgD-negative, and CD27-negative. http://purl.obolibrary.org/obo/CL_0002104 IgG-negative double negative memory B lymphocyte|IgG- double negative memory B cell|IgG-negative double negative memory B-lymphocyte|IgG- dn memory B cell|IgG- double negative memory B-cell|IgG- double negative memory B lymphocyte|IgG- dn memory B-cell|IgG- dn memory B lymphocyte|IgG- double negative memory B-lymphocyte|IgG-negative dn memory B cell|IgG- dn memory B-lymphocyte|IgG-negative dn memory B-cell|IgG-negative dn memory B lymphocyte|IgG-negative double negative memory B-cell|IgG-negative dn memory B-lymphocyte MONDO:0017875 Bolivian hemorrhagic fever biolink:Disease mondo Orphanet:319229|SCTID:67247008|DOID:0050195|MedDRA:10005932|UMLS:C0282192|ICD10:A96.1 Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations. MEDDRA:10005932|SNOMEDCT:67247008|ORPHA:319229|UMLS:C0282192|DOID:0050195 http://purl.obolibrary.org/obo/MONDO_0017875 Machupo hemorrhagic fever ordo_disease CL:0002103 IgG-positive double negative memory B cell biolink:Cell mondo An IgG-positive double negative memory B cell is a double negative memory B cell with the phenotype IgG-positive, IgD-negative, and CD27-negative. http://purl.obolibrary.org/obo/CL_0002103 IgG+ dn memory B cell|IgG+ double negative memory B cell|IgG-positive dn memory B-lymphocyte|IgG+ dn memory B-cell|IgG+ dn memory B lymphocyte|IgG+ double negative memory B-cell|IgG+ double negative memory B lymphocyte|IgG+ dn memory B-lymphocyte|IgG+ double negative memory B-lymphocyte|IgG-positive double negative memory B-cell|IgG-positive dn memory B cell|IgG-positive double negative memory B lymphocyte|IgG-positive double negative memory B-lymphocyte|IgG-positive dn memory B-cell|IgG-positive dn memory B lymphocyte MONDO:0017876 Venezuelan hemorrhagic fever biolink:Disease mondo DOID:0050196|UMLS:C0042470|SCTID:359673001|Orphanet:319234|ICD10:A96.8 Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations. SNOMEDCT:359673001|ORPHA:319234|UMLS:C0042470|DOID:0050196 http://purl.obolibrary.org/obo/MONDO_0017876 Guanarito hemorrhagic fever ordo_disease MONDO:0015219 non-syndromic central nervous system malformation biolink:Disease mondo Orphanet:108989 A central nervous system malformation that is not part of a larger syndrome. ORPHA:108989 http://purl.obolibrary.org/obo/MONDO_0015219 isolated central nervous system malformation|nonsyndromic central nervous system malformation|isolated central nervous system malformation ordo_group_of_disorders MONDO:0015218 syndromic developmental defect of the eye biolink:Disease mondo Orphanet:108987|UMLS:CN226635 A developmental defect of the eye that is part of a larger syndrome. UMLS:CN226635|ORPHA:108987 http://purl.obolibrary.org/obo/MONDO_0015218 syndrome associated with developmental defect of the eye|syndromic developmental defect of the eye|syndrome associated with developmental defect of the eye ordo_group_of_disorders MONDO:0017877 Brazilian hemorrhagic fever biolink:Disease mondo UMLS:C0343633|DOID:0050197|Orphanet:319239|ICD10:A96.8|SCTID:240524001 Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death. UMLS:C0343633|ORPHA:319239|SNOMEDCT:240524001|DOID:0050197 http://purl.obolibrary.org/obo/MONDO_0017877 Sabia hemorrhagic fever ordo_disease CL:0002106 IgD-positive CD38-positive IgG memory B cell biolink:Cell mondo An IgD-positive CD38-positive IgG memory B cell is a CD38-positive IgG-positive class switched memory B cell that has class switched and expresses IgD on the cell surface with the phenotype IgD-positive, CD38-positive, and IgG-positive. http://purl.obolibrary.org/obo/CL_0002106 MONDO:0017878 Chapare hemorrhagic fever biolink:Disease mondo UMLS:C4274434|DOID:0050198|UMLS:CN203927|Orphanet:319244|ICD10:A96.8|SCTID:716584007 Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since. SNOMEDCT:716584007|ORPHA:319244|UMLS:CN203927|UMLS:C4274434|DOID:0050198 http://purl.obolibrary.org/obo/MONDO_0017878 ordo_disease CL:0002105 CD38-positive IgG memory B cell biolink:Cell mondo A CD38-positive IgG memory B cell is a class switched memory B cell that expresses IgG on the cell surface with the phenotype CD38-positive and IgG-positive. http://purl.obolibrary.org/obo/CL_0002105 CD38+ IgG memory B-lymphocyte|CD38-positive IgG memory B-cell|CD38-positive IgG memory B lymphocyte|CD38-positive IgG memory B-lymphocyte|CD38+ IgG memory B cell|CD38+ IgG memory B-cell|CD38+ IgG memory B lymphocyte MONDO:0015217 non-syndromic developmental defect of the eye biolink:Disease mondo Orphanet:108985 A developmental defect of the eye that is not part of a larger syndrome. ORPHA:108985 http://purl.obolibrary.org/obo/MONDO_0015217 nonsyndromic developmental defect of the eye|isolated developmental defect of the eye|isolated developmental defect of the eye ordo_group_of_disorders MONDO:0017871 bilateral massive adrenal hemorrhage biolink:Disease mondo Orphanet:319205|UMLS:CN203920|ICD10:E27.4 ORPHA:319205|UMLS:CN203920 http://purl.obolibrary.org/obo/MONDO_0017871 BMAH|bilateral adrenal hemorrhage ordo_etiological_subtype MONDO:0017872 Lujo hemorrhagic fever biolink:Disease mondo UMLS:C4274433|Orphanet:319213|UMLS:CN203921|SCTID:716585008|DOID:0050202|ICD10:A96.8 Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission. ORPHA:319213|UMLS:C4274433|UMLS:CN203921|DOID:0050202|SNOMEDCT:716585008 http://purl.obolibrary.org/obo/MONDO_0017872 Zambian hemorrhagic fever ordo_disease GO:0071326 cellular response to monosaccharide stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/GO_0071326 MONDO:0017873 obsolete Ebola hemorrhagic fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017873 MONDO:0017874 Argentine hemorrhagic fever biolink:Disease mondo SCTID:58868000|UMLS:C0019097|DOID:0050194|Orphanet:319223|ICD10:A96.0 Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations. ORPHA:319223|SNOMEDCT:58868000|DOID:0050194|UMLS:C0019097 http://purl.obolibrary.org/obo/MONDO_0017874 Junin hemorrhagic fever|Argentinian hemorrhagic fever ordo_disease MONDO:0015212 syndromic intestinal malformation biolink:Disease mondo UMLS:CN226629|Orphanet:108969 A intestinal malformation that is part of a larger syndrome. ORPHA:108969|UMLS:CN226629 http://purl.obolibrary.org/obo/MONDO_0015212 syndromic intestinal malformation|syndrome associated with intestinal malformation|syndrome associated with intestinal malformation ordo_group_of_disorders MONDO:0015211 non-syndromic intestinal malformation biolink:Disease mondo Orphanet:108967 A intestinal malformation that is not part of a larger syndrome. ORPHA:108967 http://purl.obolibrary.org/obo/MONDO_0015211 isolated intestinal malformation|nonsyndromic intestinal malformation|isolated intestinal malformation ordo_group_of_disorders GO:0071322 cellular response to carbohydrate stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/GO_0071322 MONDO:0015210 syndromic gastroduodenal malformation biolink:Disease mondo Orphanet:108965|UMLS:CN226627 A gastroduodenal malformation that is part of a larger syndrome. ORPHA:108965|UMLS:CN226627 http://purl.obolibrary.org/obo/MONDO_0015210 syndrome associated with gastroduodenal malformation|syndromic gastroduodenal malformation|syndrome associated with gastroduodenal malformation ordo_group_of_disorders MONDO:0017870 supravalvular pulmonary stenosis biolink:Disease mondo ICD10:Q25.6|GARD:0004594|Orphanet:3192 ORPHA:3192 http://purl.obolibrary.org/obo/MONDO_0017870 pulmonary supravalvular stenosis gard_rare|ordo_clinical_subtype MONDO:0003238 cervical adenomyoma biolink:Disease mondo DOID:4995|NCIT:C40231|UMLS:C1516404 A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma. DOID:4995|UMLS:C1516404|NCIT:C40231 http://purl.obolibrary.org/obo/MONDO_0003238 cervical adenomyoma MONDO:0003239 obsolete Camurati-Engelmann disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003239 MONDO:0003234 optic nerve astrocytoma biolink:Disease mondo DOID:4991|UMLS:C1335114|NCIT:C6769 A astrocytoma (excluding glioblastoma) that involves the cranial nerve II. DOID:4991|NCIT:C6769|UMLS:C1335114 http://purl.obolibrary.org/obo/MONDO_0003234 astrocytic tumor of optic nerve|astrocytoma (excluding glioblastoma) of cranial nerve II|optic tract astrocytoma|optic tract astrocytoma (excluding glioblastoma)|optic nerve astrocytoma|astrocytoma of the optic nerve|astrocytoma of optic nerve|cranial nerve II astrocytoma (excluding glioblastoma) MONDO:0005897 obsolete paratyphoid fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005897 MONDO:0005896 Paramyxoviridae infectious disease biolink:Disease mondo EFO:0007419|MESH:D018184 Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections. MESH:D018184 http://purl.obolibrary.org/obo/MONDO_0005896 Paramyxoviridae caused disease or disorder|Paramyxoviridae disease or disorder MONDO:0003235 optic nerve glioma biolink:Disease mondo NCIT:C4537|MESH:D020339|DOID:4992|UMLS:C0346326|ICD9:237.9|SCTID:254976006 A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. DOID:4992|SNOMEDCT:254976006|MESH:D020339|NCIT:C4537|UMLS:C0346326 http://purl.obolibrary.org/obo/MONDO_0003235 optic nerve glioma|glioma of cranial nerve II|glioma of optic nerve|cranial nerve II glioma|glioma of the optic nerve MONDO:0003236 atypical polypoid adenomyoma biolink:Disease mondo DOID:4993|NCIT:C6895|UMLS:C1300347 An adenomyoma characterized by the presence of marked glandular architectural complexity. DOID:4993|UMLS:C1300347|NCIT:C6895 http://purl.obolibrary.org/obo/MONDO_0003236 atypical polypoid adenomyoma|atypical polypoid adenomyoma (morphologic abnormality) MONDO:0005899 parotid disease biolink:Disease mondo UMLS:C0030579|MESH:D010305|DOID:10302|EFO:0007422 A disease involving the parotid gland. MESH:D010305|DOID:10302|UMLS:C0030579 http://purl.obolibrary.org/obo/MONDO_0005899 parotid gland disease or disorder|disease of parotid gland|disorder of parotid gland|disorder of parotid gland|parotid gland disease|disease or disorder of parotid gland UBERON:0014491 middle phalanx of digit 5 biolink:AnatomicalEntity mondo A middle phalanx that is part of a digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0014491 fifth digit middle phalanx|middle phalanx of little digit|intermediate phalanx of digit 5|5th digit middle phalanx|fifth middle phalanx|5th digit of intermediate phalanx|middle phalanx of 5th digit|digit 5 intermediate phalanx|middle phalanx of fifth digit|middle phalanx of digit V|fifth digit intermediate phalanx|intermediate phalanx of 5th digit|5th digit of middle phalanx|5th digit intermediate phalanx|digit 5 middle phalanx|digit V P2|intermediate phalanx of fifth digit MONDO:0003237 adenomyoma of uterine corpus biolink:Disease mondo DOID:4994|NCIT:C6338|UMLS:C1336903 A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue. DOID:4994|NCIT:C6338|UMLS:C1336903 http://purl.obolibrary.org/obo/MONDO_0003237 uterine body adenomyoma|adenomyoma of body of uterus|adenomyoma of the corpus uteri|adenomyoma of uterine corpus|adenomyoma of the body of uterus|adenomyoma of the uterine corpus|uterine corpus adenomyoma|adenomyoma of corpus uteri|corpus uteri adenomyoma|body of uterus adenomyoma|adenomyoma of uterine body|adenomyoma of the uterine body MONDO:0005898 paronychia (disease) biolink:Disease mondo MESH:D010304|DOID:13117|EFO:0007421|ICD9:681.9|COHD:137057|NCIT:C79702|SCTID:71906005|HP:0001818|UMLS:C0030578|ICD10:L03.0 An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans. MESH:D010304|NCIT:C79702|SNOMEDCT:71906005|UMLS:C0030578|DOID:13117 http://purl.obolibrary.org/obo/MONDO_0005898 onychia and paronychia of finger|onychia and paronychia of toe|fungal nail infection|paronychia inflammation|infected nailfold|paronychia GO:1900449 regulation of glutamate receptor signaling pathway biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glutamate receptor signaling pathway. http://purl.obolibrary.org/obo/GO_1900449 regulation of glutamate signaling pathway|regulation of glutamate signalling pathway MONDO:0005893 pancreatic endocrine carcinoma biolink:Disease mondo MESH:D018273|NCIT:C3770|DOID:1798|ICDO:8150/3|UMLS:C1328479|ICD9:157.4|SCTID:254612002|Orphanet:506098|EFO:0007416|ICD10:C25.4 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma. MESH:D018273|ORPHA:506098|DOID:1798|NCIT:C3770|SNOMEDCT:254612002|UMLS:C1328479 http://purl.obolibrary.org/obo/MONDO_0005893 islet cell carcinoma|pancreatic NEC|islet cell cancer|neuroendocrine carcinoma of pancreas|poorly differentiated pancreatic endocrine carcinoma|pancreatic neuroendocrine carcinoma|pancreatic endocrine cancer|poorly-differentiated pancreatic NEN|pancreatic NEC G3|poorly-differentiated pancreatic neuroendocrine neoplasm|poorly-differentiated NEN of pancreas|poorly-differentiated neuroendocrine neoplasm of pancreas|high-grade pancreatic neuroendocrine carcinoma|carcinoma, islet cell, malignant|carcinoma of endocrine pancreas|endocrine pancreas carcinoma|high grade pancreatic neuroendocrine carcinoma|Pancreatic Neuroendocrine cancer|malignant pancreatic endocrine tumor|malignant neoplasm of islets of Langerhans|pancreatic endocrine carcinoma|malignant islet cell tumor|islet cell carcinoma (morphologic abnormality) ordo_disease CHEBI:37806 penicillanic acid biolink:ChemicalSubstance mondo A penam that consists of 3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane bearing a carboxy group at position 2 and having (2S,5R)-configuration. http://purl.obolibrary.org/obo/CHEBI_37806 penicillanic acid|(2S,5R)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|2,2-dimethylpenam-3alpha-carboxylic acid MONDO:0003230 obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003230 CL:0002119 CD38-positive IgG-negative class switched memory B cell biolink:Cell mondo A CD38-positive IgG-negative memory B cell is an IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-positive and IgG-negative. http://purl.obolibrary.org/obo/CL_0002119 MONDO:0003231 acute nonparalytic poliomyelitis biolink:Disease mondo SCTID:14535005|ICD9:045.20|ICD9:045.2|ICD9:045.23|ICD9:045.22|UMLS:C0152998|DOID:4986|ICD10:A80.4 A poliomyelitis that does not exhibit paralysis. DOID:4986|UMLS:C0152998|SNOMEDCT:14535005 http://purl.obolibrary.org/obo/MONDO_0003231 nonparalytic poliomyelitis|acute nonparalytic poliomyelitis|non-paralytic aseptic meningitis MONDO:0005892 otitis media with effusion biolink:Disease mondo ICD9:381.20|MESH:D010034|NCIT:C34886|SCTID:78868004|EFO:0007415|ICD9:381.29 Otitis media associated with accumulation of fluid in the middle ear. SNOMEDCT:78868004|NCIT:C34886|MESH:D010034 http://purl.obolibrary.org/obo/MONDO_0005892 secretory otitis Media|serous otitis Media|secretory otitis Media|OME CL:0002118 CD38-negative IgG-negative class switched memory B cell biolink:Cell mondo A CD38-negative IgG-negative memory B cell is a IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-negative and IgG-negative. http://purl.obolibrary.org/obo/CL_0002118 MONDO:0005895 paragonimiasis biolink:Disease mondo ICD9:121.2|NCIT:C84995|SCTID:30369007|DOID:10699|ICD10:B66.4|MESH:D010237|EFO:0007418|UMLS:C0030424|GARD:0009815 A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia. MESH:D010237|DOID:10699|NCIT:C84995|SNOMEDCT:30369007|UMLS:C0030424 http://purl.obolibrary.org/obo/MONDO_0005895 lung fluke infection|Paragonimus westermani disease or disorder|infection by Paragonimus|lung fluke disease|pulmonary paragonimiasis|Paragonimus westermani infectious disease|Paragonimus westermani caused disease or disorder|Paragonimus westermani infection gard_rare MONDO:0003232 alcoholic pancreatitis biolink:Disease mondo SCTID:445507008|UMLS:C0376670|MESH:D019512|DOID:4988|EFO:1002013 Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics. DOID:4988|MESH:D019512|SNOMEDCT:445507008|UMLS:C0376670 http://purl.obolibrary.org/obo/MONDO_0003232 alcoholic pancreatitis NCBITaxon:565995 Bundibugyo ebolavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_565995 BDBV|Bundibugyo virus|Ebolavirus bundibugyo MONDO:0005894 paracoccidioidomycosis biolink:Disease mondo NCIT:C34891|ICD10:B41.9|MESH:D010229|GARD:0007323|Orphanet:73260|ICD10:B41.0|UMLS:C0030409|MedDRA:10061906|ICD10:B41|ICD9:116.1|EFO:0007417|ICD10:B41.8|SCTID:36866003|ICD10:B41.7|DOID:12662 A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones. MESH:D010229|DOID:12662|MEDDRA:10061906|SNOMEDCT:36866003|ORPHA:73260|UMLS:C0030409|NCIT:C34891 http://purl.obolibrary.org/obo/MONDO_0005894 lobo disease|paracoccidioidal mycosis|Lutz-Splendore-Almeida disease|Paracoccidioidal granuloma|mucocutaneous-lymphangitic paracoccidioidomycosis|South American blastomycosis|PCM ordo_disease|gard_rare MONDO:0003233 essential tremor biolink:Disease mondo OMIMPS:190300|MESH:D020329|COHD:43531003|DOID:4990|ICD9:333.1|ICD10:G25.0|EFO:0003108|UMLS:C0270736|SCTID:609558009 A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) DOID:4990|SNOMEDCT:609558009|MESH:D020329|UMLS:C0270736 http://purl.obolibrary.org/obo/MONDO_0003233 shaky hand syndrome|tremor, hereditary essential|essential hereditary tremor|benign essential tremor MONDO:0005891 ostertagiasis biolink:Disease mondo DOID:3985|UMLS:C0029471|EFO:0007414|MESH:D010029 A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia. DOID:3985|UMLS:C0029471|MESH:D010029 http://purl.obolibrary.org/obo/MONDO_0005891 MONDO:0005890 osteitis fibrosa biolink:Disease mondo NCIT:C34875|SCTID:84727000|UMLS:C0029405|EFO:0007413|DOID:3341|MESH:D010002 A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism. UMLS:C0029405|SNOMEDCT:84727000|NCIT:C34875|DOID:3341|MESH:D010002 http://purl.obolibrary.org/obo/MONDO_0005890 Von Recklinghausen disease of Bone|osteitis fibrosa cystica|Von Recklinghausen's bone disease|osteitis fibrosa cystica generalisata|Von Recklinghausen's disease of Bone|hyperparathyroid bone disease CL:0002111 CD38-negative unswitched memory B cell biolink:Cell mondo An CD38-negative unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-negative, IgD-positive, CD138-negative, and IgG-negative. http://purl.obolibrary.org/obo/CL_0002111 CD38- unswitched memory B cell|CD38- unswitched memory B-cell|CD38- unswitched memory B lymphocyte|CD38- unswitched memory B-lymphocyte|CD38-negative unswitched memory B-cell|CD38-negative unswitched memory B lymphocyte|CD38-negative unswitched memory B-lymphocyte MONDO:0017868 diencephalic-mesencephalic junction dysplasia biolink:Disease mondo Orphanet:319192|ICD10:Q04.8 Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. ORPHA:319192 http://purl.obolibrary.org/obo/MONDO_0017868 ordo_morphological_anomaly MONDO:0015205 isolated lissencephaly type 1 without known genetic defects biolink:Disease mondo UMLS:CN226623|Orphanet:1084|ICD10:Q04.3|SCTID:715406003|UMLS:C4275151 Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. UMLS:CN226623|SNOMEDCT:715406003|UMLS:C4275151|ORPHA:1084 http://purl.obolibrary.org/obo/MONDO_0015205 ordo_disease CL:0002110 B220-low CD38-positive naive B cell biolink:Cell mondo A B220-low CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-low, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery. http://purl.obolibrary.org/obo/CL_0002110 MONDO:0015204 microlissencephaly biolink:Disease mondo UMLS:C1956147|Orphanet:1083|ICD10:Q04.3 Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years. UMLS:C1956147|ORPHA:1083 http://purl.obolibrary.org/obo/MONDO_0015204 ordo_morphological_anomaly MONDO:0017869 chondroectodermal dysplasia with night blindness biolink:Disease mondo Orphanet:319195|ICD10:Q77.6 Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. ORPHA:319195 http://purl.obolibrary.org/obo/MONDO_0017869 ordo_disease CL:0002113 B220-low CD38-negative unswitched memory B cell biolink:Cell mondo A B220-low CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-low, CD38-negative, IgD-positive, CD138-negative, and IgG-negative. http://purl.obolibrary.org/obo/CL_0002113 MONDO:0015203 coronary artery congenital malformation biolink:Disease mondo ICD10:Q24.5|Orphanet:1081|MedDRA:10061060 MEDDRA:10061060|ORPHA:1081 http://purl.obolibrary.org/obo/MONDO_0015203 ordo_group_of_disorders CL:0002112 B220-positive CD38-negative unswitched memory B cell biolink:Cell mondo A B220-positive CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-positive, CD38-negative, IgD-positive, CD138-negative, and IgG-negative. http://purl.obolibrary.org/obo/CL_0002112 MONDO:0015202 obsolete babesiosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015202 MONDO:0015209 non-syndromic gastroduodenal malformation biolink:Disease mondo Orphanet:108963 A gastroduodenal malformation that is not part of a larger syndrome. ORPHA:108963 http://purl.obolibrary.org/obo/MONDO_0015209 nonsyndromic gastroduodenal malformation|isolated gastroduodenal malformation|isolated gastroduodenal malformation ordo_group_of_disorders MONDO:0017864 congenital pulmonary veins atresia or stenosis biolink:Disease mondo Orphanet:3188|UMLS:C0340756|ICD10:Q26.3|SCTID:234062003|GARD:0004598 Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects. UMLS:C0265915|SNOMEDCT:234062003|UMLS:C0340756|ORPHA:3188|UMLS:C0344679 http://purl.obolibrary.org/obo/MONDO_0017864 pulmonary vein stenosis|pulmonary veins stenosis ordo_morphological_anomaly CL:0002115 B220-positive CD38-positive unswitched memory B cell biolink:Cell mondo A B220-positive CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-positive, CD38-positive, IgD-positive, CD138-negative, and IgG-negative. http://purl.obolibrary.org/obo/CL_0002115 MONDO:0015208 syndromic esophageal malformation biolink:Disease mondo UMLS:CN226625|Orphanet:108961 A esophageal malformation that is part of a larger syndrome. ORPHA:108961|UMLS:CN226625 http://purl.obolibrary.org/obo/MONDO_0015208 syndromic esophageal malformation|syndrome associated with esophageal malformation|syndrome associated with esophageal malformation ordo_group_of_disorders MONDO:0017865 congenital pulmonary valve stenosis biolink:Disease mondo MedDRA:10037451|COHD:313005|Orphanet:3189|GARD:0004596|ICD10:Q22.1 Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS). MESH:D011666|ORPHA:3189|MEDDRA:10037451|UMLS:C0162164 http://purl.obolibrary.org/obo/MONDO_0017865 heart valve pulmonary stenosis|valvar pulmonary stenosis|valvate pulmonary stenosis|valvular pulmonary stenosis ordo_morphological_anomaly|gard_rare CL:0002114 CD38-positive unswitched memory B cell biolink:Cell mondo A CD38-positive unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-positive, IgD-positive, CD138-negative, and IgG-negative. http://purl.obolibrary.org/obo/CL_0002114 CD38+ unswitched memory B cell|CD38-positive unswitched memory B-lymphocyte|CD38+ unswitched memory B-cell|CD38+ unswitched memory B lymphocyte|CD38+ unswitched memory B-lymphocyte|CD38-positive unswitched memory B-cell|CD38-positive unswitched memory B lymphocyte MONDO:0015207 non-syndromic esophageal malformation biolink:Disease mondo Orphanet:108959 A esophageal malformation that is not part of a larger syndrome. ORPHA:108959 http://purl.obolibrary.org/obo/MONDO_0015207 isolated esophageal malformation|nonsyndromic esophageal malformation|isolated esophageal malformation ordo_group_of_disorders MONDO:0017866 subpulmonary stenosis biolink:Disease mondo UMLS:C3165028|ICD10:Q24.3|SCTID:448476001|GARD:0005051|Orphanet:3190 SNOMEDCT:448476001|ORPHA:3190|UMLS:C3165028 http://purl.obolibrary.org/obo/MONDO_0017866 gard_rare|ordo_clinical_subtype CL:0002117 IgG-negative class switched memory B cell biolink:Cell mondo A class switched memory B cell that lacks IgG on the cell surface. http://purl.obolibrary.org/obo/CL_0002117 IgG- class switched memory B cell|IgG- class switched memory B-cell|IgG- class switched memory B lymphocyte|IgG- class switched memory B-lymphocyte|IgG-negative class switched memory B-cell|IgG-negative class switched memory B lymphocyte|IgG-negative class switched memory B-lymphocyte CL:0002116 B220-low CD38-positive unswitched memory B cell biolink:Cell mondo A B220-low CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-low, CD38-positive, IgD-positive, CD138-negative, and IgG-negative. http://purl.obolibrary.org/obo/CL_0002116 MONDO:0017867 distal 17p13.1 microdeletion syndrome biolink:Disease mondo Orphanet:319171|UMLS:CN203914|ICD10:Q93.5 Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. ORPHA:319171|UMLS:CN203914 http://purl.obolibrary.org/obo/MONDO_0017867 distal del(17)(p13.1) ordo_malformation_syndrome MONDO:0015206 short stature-heart defect-craniofacial anomalies syndrome biolink:Disease mondo Orphanet:1088|MESH:C535871|GARD:0004739|ICD10:Q87.1|UMLS:C2931050 UMLS:C2931050|MESH:C535871|ORPHA:1088 http://purl.obolibrary.org/obo/MONDO_0015206 short stature heart defect and craniofacial anomalies|Rommen-Mueller-Sybert syndrome|Rommen Mueller Sybert syndrome ordo_malformation_syndrome MONDO:0017860 methanol poisoning biolink:Disease mondo Orphanet:31825|ICD10:T51.1|UMLS:CN203895 Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure). UMLS:CN203895|ORPHA:31825 http://purl.obolibrary.org/obo/MONDO_0017860 ordo_disease MONDO:0017861 ethylene glycol poisoning biolink:Disease mondo ICD9:982.8|SCTID:426692001|Orphanet:31826|ICD10:T52.8 Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure. UMLS:C0413194|SNOMEDCT:426692001|ORPHA:31826 http://purl.obolibrary.org/obo/MONDO_0017861 ordo_disease HGNC:9277 PPM1D biolink:OntologyClass mondo http://identifiers.org/hgnc/9277 MONDO:0017862 paraquat poisoning biolink:Disease mondo ICD10:T60.3|UMLS:CN227212|Orphanet:31827 Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported. ORPHA:31827|UMLS:CN227212 http://purl.obolibrary.org/obo/MONDO_0017862 ordo_disease MONDO:0017863 digitalis poisoning biolink:Disease mondo ICD10:T46.0|SCTID:12876009|Orphanet:31828|UMLS:CN203897 Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances. ORPHA:31828|UMLS:CN203897|SNOMEDCT:12876009 http://purl.obolibrary.org/obo/MONDO_0017863 ordo_clinical_situation MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome biolink:Disease mondo Orphanet:1074|UMLS:CN197555|ICD10:Q87.8 Ankyloblepharon filiforme adnatum-imperforate anus syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. UMLS:CN197555|ORPHA:1074 http://purl.obolibrary.org/obo/MONDO_0015201 ankyloblepharon filiforme adnatum-imperforate anus syndrome|Aughton-Hufnagle syndrome ordo_malformation_syndrome MONDO:0015200 anisakiasis biolink:Disease mondo MESH:D017129|GARD:0000693|EFO:0007146|UMLS:C0162576|NCIT:C128393|DOID:7033|MedDRA:10002533|ICD10:B81.0|Orphanet:1070|SCTID:442652006|ICD9:127.1 Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum. NCIT:C128393|UMLS:C2711591|MESH:D017129|MEDDRA:10002533|DOID:7033|SNOMEDCT:442652006|ORPHA:1070|UMLS:C0162576 http://purl.obolibrary.org/obo/MONDO_0015200 Anisakiases|Pseudoterranova infection|Anisakis simplex infection|Anisakis infection|infection by Anisakis larva|infections, Anisakis simplex ordo_disease|gard_rare GO:0071310 cellular response to organic substance biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/GO_0071310 HGNC:9279 PDP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9279 MONDO:0003205 renal pelvis adenocarcinoma biolink:Disease mondo UMLS:C1335748|DOID:4918|NCIT:C6143 A carcinoma that arises from glandular epithelial cells of the renal pelvis DOID:4918|NCIT:C6143|UMLS:C1335748 http://purl.obolibrary.org/obo/MONDO_0003205 kidney renal pelvis adenocarcinoma|adenocarcinoma of the kidney pelvis|adenocarcinoma of renal pelvis|renal pelvis adenocarcinoma|kidney pelvis adenocarcinoma|adenocarcinoma of kidney pelvis|adenocarcinoma of the renal pelvis MONDO:0005868 myelophthisic anemia biolink:Disease mondo UMLS:C0002890|NCIT:C36218|DOID:2354|EFO:0007388|ICD9:285.8|ICD10:D61.82|MESH:D000750|SCTID:2694001 A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells. UMLS:C0002890|MESH:D000750|DOID:2354|NCIT:C36218|SNOMEDCT:2694001 http://purl.obolibrary.org/obo/MONDO_0005868 anemia, leukoerythroblastic|leukoerythroblastosis|anemia LEUKOERYTHROBLASTIC|leukoerythroblastic reaction|myelophthisis MONDO:0005867 Mycoplasma pneumoniae pneumonia biolink:Disease mondo MESH:D011019|ICD9:483.0|DOID:13276|ICD10:J15.7|SCTID:46970008|NCIT:C122526|GARD:0007125|EFO:0007387 Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar. NCIT:C122526|MESH:D011019|DOID:13276|SNOMEDCT:46970008 http://purl.obolibrary.org/obo/MONDO_0005867 pneumonia due to Eaton's agent|pneumonia due to Mycoplasma pneumoniae (disorder)|cold agglutinin positive pneumonia|Mycoplasmal pneumonia|pneumonia due to Mycoplasma pneumoniae|Mycoplasma pneumonia HGNC:9280 PPOX biolink:OntologyClass mondo http://identifiers.org/hgnc/9280 MONDO:0003206 acquired hemangioma biolink:Disease mondo UMLS:C0856897|NCIT:C27018|DOID:492 A hemangioma that is not present at birth but develops later in life. DOID:492|UMLS:C0856897|NCIT:C27018 http://purl.obolibrary.org/obo/MONDO_0003206 acquired hemangioma UBERON:0014483 distal phalanx of digit 1 biolink:AnatomicalEntity mondo A distal phalanx that is part of a digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0014483 distal phalanx of first digit|digit 1 distal phalanx|digit I P3|distal phalanx of digit I|first distal phalanx MONDO:0003207 obsolete eccrine adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003207 MONDO:0003208 breast secretory carcinoma biolink:Disease mondo ICDO:8502/3|DOID:4922|ONCOTREE:JSCB|UMLS:C0334371|GARD:0009408|NCIT:C4189|ICDO:8508/3|MESH:C537535 A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas. MESH:C537535|DOID:4922|NCIT:C4189|UMLS:C0334371 http://purl.obolibrary.org/obo/MONDO_0003208 JSCB|secretory carcinoma of breast|juvenile secretory carcinoma of breast|secretory carcinoma of the breast|juvenile carcinoma (formerly)|juvenile secretory carcinoma of the breast|invasive cystic hypersecretory duct breast carcinoma|juvenile secretory breast carcinoma|secretory breast carcinoma|secretory carcinoma|juvenile carcinoma of the breast (morphologic abnormality)|juvenile carcinoma of the breast|juvenile carcinoma of breast|SBC|cystic hypersecretory breast carcinoma|juvenile breast carcinoma|infiltrating cystic hypersecretory duct breast carcinoma|cystic hypersecretory carcinoma of breast|cystic hypersecretory carcinoma of the breast gard_rare MONDO:0005869 obsolete myiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005869 MONDO:0005864 muscle cancer biolink:Disease mondo ICDO:8895/3|UMLS:C0027095|ICD10:C49|DOID:4045|EFO:0007384|ICD9:171.9|SCTID:363495004|NCIT:C4883|UMLS:C0684743 A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas. SNOMEDCT:363495004|DOID:4045|UMLS:C0684743|UMLS:C0027095|NCIT:C4883 http://purl.obolibrary.org/obo/MONDO_0005864 muscle structure cancer|malignant muscle neoplasm|malignant neoplasm of muscle structure|malignant tumor of muscle|malignant neoplasm of the muscle|malignant tumor of the muscle|malignant muscle structure neoplasm|malignant muscle tumor|malignant neoplasm of muscle|cancer of muscle structure|myosarcoma MONDO:0003201 obsolete esophagus adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003201 MONDO:0003202 pituitary gland basophilic carcinoma biolink:Disease mondo UMLS:C1704778|NCIT:C27392|DOID:4915 DOID:4915|NCIT:C27392|UMLS:C1704778 http://purl.obolibrary.org/obo/MONDO_0003202 basophil adenocarcinoma|basophilic carcinoma|basophil carcinoma (morphologic abnormality)|basophil carcinoma|pituitary gland basophil carcinoma MONDO:0005863 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005863 MONDO:0005866 mycobacterium avium complex disease biolink:Disease mondo MESH:D015270|SCTID:373436002|DOID:2755|EFO:0007386|ICD9:031.8|GARD:0009236|UMLS:C0026916|NCIT:C36197 An infection that is caused by Mycobacterium avium. UMLS:C0026916|SNOMEDCT:373436002|DOID:2755|MESH:D015270|NCIT:C36197 http://purl.obolibrary.org/obo/MONDO_0005866 Mycobacterium avium Complex|Mycobacterium avium complex disease or disorder|DMAC|Mycobacterium avium complex infectious disease|Mycobacterium avium complex caused disease or disorder|Mycobacterium avium infection|infection due to Mycobacterium intracellulare|disseminated infection with mycobacterium avium complex|MAC disease gard_rare MONDO:0003203 obsolete pituitary carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003203 MONDO:0005865 mushroom workers' lung biolink:Disease mondo ICD10:J67.5|ICD9:495.5|COHD:433233|UMLS:C0155889|DOID:2708|EFO:0007385|SCTID:52333004 An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. SNOMEDCT:52333004|DOID:2708|UMLS:C0155889 http://purl.obolibrary.org/obo/MONDO_0005865 MONDO:0003204 villous adenocarcinoma biolink:Disease mondo ICDO:8262/3|UMLS:C0334306|DOID:4917|NCIT:C4142 An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma. DOID:4917|NCIT:C4142|UMLS:C0334306 http://purl.obolibrary.org/obo/MONDO_0003204 villous adenocarcinoma|villous adenocarcinoma (morphologic abnormality) MONDO:0005860 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005860 MONDO:0005862 multiple chemical sensitivity biolink:Disease mondo MESH:D018777|SCTID:702772003|UMLS:C0242992|DOID:4661|EFO:0007382 An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61) DOID:4661|SNOMEDCT:702772003|MESH:D018777|UMLS:C0242992 http://purl.obolibrary.org/obo/MONDO_0005862 chemical AIDS|idiopathic environmental illness|20th century disease|total allergy syndrome|environmental illness speculative MONDO:0005861 multidrug-resistant tuberculosis biolink:Disease mondo SCTID:423092005|UMLS:C0206526|MESH:D018088|DOID:401|NCIT:C128415|EFO:0007381 Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis. DOID:401|NCIT:C128415|UMLS:C0206526|SNOMEDCT:423092005|MESH:D018088 http://purl.obolibrary.org/obo/MONDO_0005861 multidrug-resistant TB|MDR-TB MONDO:0003200 urethra adenocarcinoma biolink:Disease mondo DOID:4910|ONCOTREE:UAD|UMLS:C1336885|NCIT:C6167 A carcinoma that arises from glandular epithelial cells of the urethra DOID:4910|NCIT:C6167|UMLS:C1336885 http://purl.obolibrary.org/obo/MONDO_0003200 urethral adenocarcinoma|adenocarcinoma of the urethra|urethra adenocarcinoma|UAD|adenocarcinoma of urethra GO:1900451 positive regulation of glutamate receptor signaling pathway biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of glutamate receptor signaling pathway. http://purl.obolibrary.org/obo/GO_1900451 up-regulation of glutamate signaling pathway|positive regulation of glutamate signalling pathway|up regulation of glutamate signalling pathway|up regulation of glutamate signaling pathway|positive regulation of glutamate signaling pathway|upregulation of glutamate receptor signaling pathway|up-regulation of glutamate signalling pathway|upregulation of glutamate signaling pathway|activation of glutamate signaling pathway|up regulation of glutamate receptor signaling pathway|activation of glutamate signalling pathway|upregulation of glutamate signalling pathway|up-regulation of glutamate receptor signaling pathway|activation of glutamate receptor signaling pathway GO:1900450 negative regulation of glutamate receptor signaling pathway biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of glutamate receptor signaling pathway. http://purl.obolibrary.org/obo/GO_1900450 downregulation of glutamate signaling pathway|inhibition of glutamate signalling pathway|down regulation of glutamate receptor signaling pathway|inhibition of glutamate receptor signaling pathway|inhibition of glutamate signaling pathway|down-regulation of glutamate receptor signaling pathway|downregulation of glutamate signalling pathway|down-regulation of glutamate signaling pathway|negative regulation of glutamate signaling pathway|down regulation of glutamate signalling pathway|down regulation of glutamate signaling pathway|negative regulation of glutamate signalling pathway|down-regulation of glutamate signalling pathway|downregulation of glutamate receptor signaling pathway UBERON:0014487 distal phalanx of digit 5 biolink:AnatomicalEntity mondo A distal phalanx that is part of a digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0014487 digit V P3|digit 5 distal phalanx|fifth digit distal phalanx|distal phalanx of little digit|distal phalanx of 5th digit|5th digit distal phalanx|fifth distal phalanx|distal phalanx of fifth digit|distal phalanx of digit V MONDO:0017857 spina bifida-hypospadias syndrome biolink:Disease mondo UMLS:CN203872|Orphanet:3176|ICD10:Q05.9 Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. ORPHA:3176|UMLS:CN203872 http://purl.obolibrary.org/obo/MONDO_0017857 ordo_malformation_syndrome MONDO:0017858 acute erythroid leukemia biolink:Disease mondo UMLS:C0023440|ICD10:C94.0|SCTID:93451002|Orphanet:318|ICDO:9840/3|MESH:D004915|ICD9:207.00|GARD:0009620|GARD:0009750|NCIT:C8923|ICD9:205.80 An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001) ORPHA:318|NCIT:C8923|UMLS:C0023440|SNOMEDCT:93451002|MESH:D004915 http://purl.obolibrary.org/obo/MONDO_0017858 Di Guglielmo's syndrome|acute erythroleukemia M6b subtype|M6 acute myeloid leukemia|acute erythroleukemia M6a subtype|erythroblastic leukemia|acute erythroleukemia|acute myeloid leukemia M6|Di Guglielmo syndrome|leukemia, erythroid, malignant|AEL|acute myeloid leukemia FAB-M6|acute erythroid leukemia|FAB M6|Erythroleukemia|AML-M6|acute erythroblastic leukemia|AML M6 ordo_disease|gard_rare MONDO:0017859 colchicine poisoning biolink:Disease mondo ICD10:T50.4|Orphanet:31824|ICD9:974.7|UMLS:CN203894|SCTID:24354007 A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days. SNOMEDCT:24354007|ORPHA:31824|UMLS:CN203894 http://purl.obolibrary.org/obo/MONDO_0017859 ordo_clinical_situation MONDO:0017853 hypersensitivity pneumonitis biolink:Disease mondo ICD10:J67.7|ICD9:495.9|SCTID:37471005|ICD10:J67.6|Orphanet:31740|ICD10:J67.5|MedDRA:10001890|ICD10:J67.4|ICD10:J67.1|GARD:0000012|ICD10:J67.3|ICD10:J67.0|ICD9:495.8|ICD10:J67.2|ICD10:J67.9|ICD10:J67.8 Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. MESH:D000542|ORPHA:31740|MEDDRA:10001890|UMLS:C0002390|SNOMEDCT:37471005 http://purl.obolibrary.org/obo/MONDO_0017853 extrinsic allergic alveolitis|allergic pneumonitis|extrinsic allergic pneumonia hypersensitivity pneumonitis|Hp|allergic interstitial pneumonitis|alveolitis, extrinsic allergic|hypersensitivity pneumonitis gard_rare|ordo_group_of_disorders MONDO:0017854 obsolete T-b+ severe combined immunodeficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017854 MONDO:0017855 T-B- severe combined immunodeficiency biolink:Disease mondo Orphanet:317419|ICD10:D81.1 T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. ORPHA:317419 http://purl.obolibrary.org/obo/MONDO_0017855 T-B- SCID ordo_group_of_disorders MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome biolink:Disease mondo Orphanet:3175|ICD10:G25.3|UMLS:CN203866 ORPHA:3175|UMLS:CN203866 http://purl.obolibrary.org/obo/MONDO_0017856 ordo_disease MONDO:0017850 sirenomelia biolink:Disease mondo NCIT:C118455|Orphanet:3169|GARD:0007652|ICD10:Q87.2|SCTID:67254002|MedDRA:10049216|UMLS:C0037205 Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth. UMLS:C0037205|ORPHA:3169|MEDDRA:10049216|NCIT:C118455|MESH:C538595|SNOMEDCT:67254002 http://purl.obolibrary.org/obo/MONDO_0017850 mermaid malformation|sirenomelia sequence|mermaid syndrome|Sirenomelus|Fused legs and feet|symmelia ordo_malformation_syndrome MONDO:0017851 erythrokeratodermia variabilis biolink:Disease mondo OMIMPS:133200|MedDRA:10049048|DOID:0050467|UMLS:C0265961|NCIT:C84696|SCTID:70041004|MESH:C536154|MESH:D056266|Orphanet:317|Orphanet:316|GARD:0003096|ICD10:Q82.8 A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents. SNOMEDCT:70041004|DOID:0050467|ORPHA:316|ORPHA:317|UMLS:C0265961|NCIT:C84696|MEDDRA:10049048|MESH:D056266|MESH:C536154 http://purl.obolibrary.org/obo/MONDO_0017851 EKV|erythrokeratodermia variabilis, Mendes da Costa type|progressive symmetric erythrokeratodermia|erythrokeratodermia, progressive symmetric|keratoderma palmoplantaris transgrediens|erythrokeratodermia progressiva symmetrica|EKVP|progressive symmetric erythrokeratodermia, Gottron type|erythrokeratodermia variabilis ET progressiva|Greither's disease|keratosis palmoplantaris transgrediens Et progrediens|erythrokeratodermia variabilis with erythema gyratum repens|keratosis palmoplantaris transgrediens et progrediens|erythrokeratodermia variabilis with erythema Gyratum Repens|keratosis extremitatum hereditaria progrediens|Darier-Gottron disease|erythrokeratodermia variabilis ET progressiva; EKVP|erythrokeratodermia variabilis|erythrokeratodermia Figurata variabilis|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia Figurata, congenital familial, in plaques|Greither disease ordo_disease|gard_rare MONDO:0017852 infantile spasms-broad thumbs syndrome biolink:Disease mondo GARD:0003002|Orphanet:3173|UMLS:CN203849|ICD10:G40.4 Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. ORPHA:3173|UMLS:CN203849 http://purl.obolibrary.org/obo/MONDO_0017852 Tsao-Ellingson syndrome|infantile spasms broad thumbs|Tsao Ellingson syndrome ordo_disease|gard_rare GO:0071345 cellular response to cytokine stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/GO_0071345 NCBITaxon:32066 Fusobacteria organism taxon mondo GC_ID:11|PMID:24969840|PMID:29458499|PMID:26654112 http://purl.obolibrary.org/obo/NCBITaxon_32066 Fusobacteraeota|fusobacteria|Fusobacteriota MONDO:0005879 ocular toxoplasmosis biolink:Disease mondo MESH:D014126|SCTID:416481006|GARD:0007238|EFO:0007399|UMLS:C0040561|ICD9:130.7 Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids. UMLS:C0040561|SNOMEDCT:416481006|MESH:D014126 http://purl.obolibrary.org/obo/MONDO_0005879 gard_rare MONDO:0003216 ureter adenocarcinoma biolink:Disease mondo DOID:4938|NCIT:C6155|UMLS:C1336873 A carcinoma that arises from glandular epithelial cells of the ureter DOID:4938|NCIT:C6155|UMLS:C1336873 http://purl.obolibrary.org/obo/MONDO_0003216 adenocarcinoma of ureter|ureteral adenocarcinoma|adenocarcinoma of the ureter|ureter adenocarcinoma HP:0031093 Abnormal breast morphology biolink:PhenotypicFeature mondo Any anomaly of the structure of the breast. http://purl.obolibrary.org/obo/HP_0031093 GO:0046395 carboxylic acid catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. http://purl.obolibrary.org/obo/GO_0046395 carboxylic acid degradation|carboxylic acid breakdown|carboxylic acid catabolism MONDO:0005878 ocular onchocerciasis biolink:Disease mondo EFO:0007398|MESH:D015827|SCTID:240842000|NCIT:C34862|UMLS:C0029002 Onchocerciasis affecting the eye. SNOMEDCT:240842000|NCIT:C34862|UMLS:C0029002|MESH:D015827 http://purl.obolibrary.org/obo/MONDO_0005878 eyeball of camera-type eye onchocerciasis|onchocerciasis of eyeball of camera-type eye MONDO:0003217 obsolete ureter carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003217 HGNC:9291 PPP1R3A biolink:OntologyClass mondo http://identifiers.org/hgnc/9291 MONDO:0003218 adenocarcinoma in situ biolink:Disease mondo ONCOTREE:AIS|NCIT:C4123|DOID:4943|MESH:D065311|ICDO:8140/2|UMLS:C0334276 A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics. MESH:D065311|DOID:4943|NCIT:C4123|UMLS:C0334276 http://purl.obolibrary.org/obo/MONDO_0003218 AIS|adenocarcinoma in situ GO:0046394 carboxylic acid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. http://purl.obolibrary.org/obo/GO_0046394 carboxylic acid synthesis|carboxylic acid formation|carboxylic acid biosynthesis|carboxylic acid anabolism MONDO:0003219 gastroesophageal junction adenocarcinoma biolink:Disease mondo DOID:4944|UMLS:C1332166|ONCOTREE:EGC|NCIT:C9296|ONCOTREE:GEJ A carcinoma that arises from glandular epithelial cells of the esophagogastric junction. UMLS:C1332166|NCIT:C9296|DOID:4944 http://purl.obolibrary.org/obo/MONDO_0003219 gastroesophageal junction adenocarcinoma|adenocarcinoma of the EG junction|adenocarcinoma of cardioesophageal junction|esophagogastric junction adenocarcinoma|adenocarcinoma of the cardioesophageal junction|adenocarcinoma of gastroesophageal junction|adenocarcinoma of the esophagogastric junction|adenocarcinoma of the gastroesophageal junction|adenocarcinoma - GEJ|esophagogastric adenocarcinoma|adenocarcinoma of the GE junction MONDO:0003212 nasal cavity carcinoma biolink:Disease mondo DOID:4931|SCTID:448990005|UMLS:C1377785|NCIT:C9336 A carcinoma that arises from epithelial cells of the nasal cavity DOID:4931|UMLS:C1377785|SNOMEDCT:448990005|NCIT:C9336 http://purl.obolibrary.org/obo/MONDO_0003212 nasal cavity cancer|cancer of nasal cavity|cancer of the nasal cavity|carcinoma of the nasal cavity|nasal cavity carcinoma|carcinoma of nasal cavity MONDO:0005875 Newcastle disease biolink:Disease mondo NCIT:C34849|MESH:D009521|DOID:2929|EFO:0007395|UMLS:C0027983 A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea. NCIT:C34849|DOID:2929|MESH:D009521|UMLS:C0027983 http://purl.obolibrary.org/obo/MONDO_0005875 Newcastle's disease|pseudo-fowlpest MONDO:0003213 obsolete ampulla of vater carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003213 MONDO:0005874 neuroschistosomiasis biolink:Disease mondo UMLS:C0752191|DOID:13722|EFO:0007394|MESH:D020818 Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2) DOID:13722|MESH:D020818|UMLS:C0752191 http://purl.obolibrary.org/obo/MONDO_0005874 GO:0046390 ribose phosphate biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/GO_0046390 ribose phosphate anabolism|ribose phosphate synthesis|ribose phosphate biosynthesis|ribose phosphate formation MONDO:0003214 apocrine adenocarcinoma biolink:Disease mondo GARD:0012138|ICDO:8401/3|UMLS:C0334346|UMLS:C1706827|NCIT:C4169|DOID:4933 A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course. DOID:4933|UMLS:C1706827|NCIT:C4169|UMLS:C0334346 http://purl.obolibrary.org/obo/MONDO_0003214 apocrine gland adenocarcinoma|apocrine gland carcinoma|apocrine carcinoma|apocrine adenocarcinoma (morphologic abnormality)|carcinoma of the apocrine gland|carcinoma of apocrine gland MONDO:0005877 obsolete nocardiosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005877 MONDO:0005876 Nidovirales infectious disease biolink:Disease mondo MESH:D030341|UMLS:C0969753|EFO:0007396 Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections. UMLS:C0969753|MESH:D030341 http://purl.obolibrary.org/obo/MONDO_0005876 Nidovirales disease or disorder|Nidovirales caused disease or disorder MONDO:0003215 apocrine sweat gland cancer biolink:Disease mondo NCIT:C6800|UMLS:C1334561|DOID:4934 A malignant neoplasm involving the apocrine sweat gland. DOID:4934|NCIT:C6800|UMLS:C1334561 http://purl.obolibrary.org/obo/MONDO_0003215 malignant apocrine skin neoplasm|malignant apocrine neoplasm of skin|malignant apocrine skin tumor|malignant neoplasm of apocrine sweat gland|malignant apocrine neoplasm of the skin|malignant apocrine tumor of skin|apocrine sweat gland cancer|malignant apocrine tumor of the skin|malignant apocrine tumor|malignant apocrine neoplasm|cancer of apocrine sweat gland|malignant apocrine sweat gland neoplasm MONDO:0005871 Nematoda infectious disease biolink:Disease mondo MESH:D009349|UMLS:C0027583|SCTID:84706005|EFO:0007391 Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans. SNOMEDCT:84706005|UMLS:C0027583|MESH:D009349 http://purl.obolibrary.org/obo/MONDO_0005871 Infections, Nematode|Nematoda disease or disorder|Nematode Infection|Nematode Infections|disease due to nematoda|nematode infection|Nematode infection|nematodiasis|Disease due to Nematoda|Nematodiasis|Nematoda caused disease or disorder|Infection, Nematode UBERON:0014478 rib skeletal system biolink:AnatomicalEntity mondo Subdivision of skeletal system that consists of all ribs and rib joints in an organism. In many vertebrates this consists of the combination of the rib cage and all rib joints, but some vertebrates have ribs outside the thoracic rib cage. http://purl.obolibrary.org/obo/UBERON_0014478 set of all ribs|rib skeleton|rib series MONDO:0005870 necatoriasis biolink:Disease mondo ICD10:B76.1|NCIT:C34838|UMLS:C0027528|SCTID:36667009|MESH:D009332|EFO:0007390|DOID:2790|ICD9:126.9 A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia. NCIT:C34838|DOID:2790|SNOMEDCT:36667009|UMLS:C0027528|MESH:D009332 http://purl.obolibrary.org/obo/MONDO_0005870 MONDO:0003210 intrahepatic cholangiocarcinoma biolink:Disease mondo ONCOTREE:IHCH|COHD:4001664|DOID:4928|NCIT:C35417|ICD10:C22.1|SCTID:109842005|GARD:0006042|UMLS:C0345905|EFO:1001961 A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. DOID:4928|SNOMEDCT:109842005|NCIT:C35417|UMLS:C0345905 http://purl.obolibrary.org/obo/MONDO_0003210 peripheral cholangiocarcinoma|IHCH|intrahepatic Cholangiocellular carcinoma|intrahepatic carcinoma of the bile duct|intrahepatic carcinoma of bile duct|intrahepatic cholangiocarcinoma (bile duct cancer)|cholangiocarcinoma, intrahepatic, malignant|intrahepatic bile duct cancer (cholangiocarcinoma)|intrahepatic bile duct carcinoma|intrahepatic cholangiocarcinoma|ICC gard_rare MONDO:0005873 neuroaspergillosis biolink:Disease mondo UMLS:C0752342|MESH:D020953|EFO:0007393|DOID:13565 Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3) DOID:13565|MESH:D020953|UMLS:C0752342 http://purl.obolibrary.org/obo/MONDO_0005873 MONDO:0005872 nervous system cancer biolink:Disease mondo DOID:3093|MESH:D009423|NCIT:C4788|ICD9:192|ICD9:192.9|ICD9:192.8|EFO:0007392|SCTID:372063002 A primary or metastatic malignant neoplasm involving the nervous system. DOID:3093|NCIT:C4788|MESH:D009423|SNOMEDCT:372063002 http://purl.obolibrary.org/obo/MONDO_0005872 cancer of nervous system|neural neoplasm|nervous system neoplasm|malignant tumor of nervous system|malignant tumor of the nervous system|malignant neoplasm of nervous system|nervous system neoplasms, malignant|neoplasm of nervous system|nervous system cancer|neural tumor|malignant neoplasm of the nervous system|malignant nervous system tumor|malignant nervous system neoplasm|tumor of the nervous system MONDO:0003211 nasal cavity adenocarcinoma biolink:Disease mondo DOID:4930|UMLS:C1334920|NCIT:C6015 A carcinoma that arises from glandular epithelial cells of the nasal cavity DOID:4930|NCIT:C6015|UMLS:C1334920 http://purl.obolibrary.org/obo/MONDO_0003211 adenocarcinoma of nasal cavity|adenocarcinoma of the nasal cavity|nasal cavity adenocarcinoma MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form biolink:Disease mondo Orphanet:315306|ICD10:E25.0 The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency. ORPHA:315306 http://purl.obolibrary.org/obo/MONDO_0017839 classic 21-OHD CAH, salt wasting form ordo_clinical_subtype HP:0031097 Abnormal thyroid-stimulating hormone level biolink:PhenotypicFeature mondo Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. http://purl.obolibrary.org/obo/HP_0031097 Abnormal thyrotropin level|Abnormal TSH level|Abnormal circulating thyrotropin concentration UBERON:0014477 thoracic skeleton biolink:AnatomicalEntity mondo Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. http://purl.obolibrary.org/obo/UBERON_0014477 thoracic skeleton|thoracic part of axial skeleton|skeleton of thorax MONDO:0017846 autosomal dominant spastic ataxia biolink:Disease mondo Orphanet:316235|UMLS:CN229111|ICD10:G11.4 Autosomal dominant form of spastic ataxia. ORPHA:316235|UMLS:CN229111 http://purl.obolibrary.org/obo/MONDO_0017846 spastic ataxia, autosomal dominant|AD-SPAX ordo_group_of_disorders MONDO:0017847 autosomal recessive spastic ataxia biolink:Disease mondo Orphanet:316240|ICD10:G11.8|UMLS:CN229112 Autosomal recessive form of spastic ataxia. ORPHA:316240|UMLS:CN229112 http://purl.obolibrary.org/obo/MONDO_0017847 spastic ataxia, autosomal recessive|AR-SPAX ordo_group_of_disorders MONDO:0017848 partial deletion of the short arm of chromosome 12 biolink:Disease mondo ICD10:Q93.5|MESH:C538302|Orphanet:316244 MESH:C538302|ORPHA:316244 http://purl.obolibrary.org/obo/MONDO_0017848 partial deletion of the short arm of chromosome type 12|partial deletion of chromosome 12p|partial monosomy of the short arm of chromosome 12|partial monosomy of chromosome 12p ordo_group_of_disorders MONDO:0017849 Siegler-Brewer-Carey syndrome biolink:Disease mondo SCTID:721076000|UMLS:C2931473|MESH:C537335|GARD:0004867|Orphanet:3167 Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. SNOMEDCT:721076000|MESH:C537335|UMLS:C2931473|ORPHA:3167 http://purl.obolibrary.org/obo/MONDO_0017849 Siegler Brewer Carey syndrome|fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys gard_rare|ordo_malformation_syndrome MONDO:0017842 Senior-Loken syndrome biolink:Disease mondo Orphanet:3156|DOID:0050576|UMLS:CN117960|ICD10:Q61.5|MESH:C537580|OMIMPS:266900|GARD:0000322 Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. MESH:C537580|DOID:0050576|UMLS:CN117960|ORPHA:3156 http://purl.obolibrary.org/obo/MONDO_0017842 SLSN|Loken Senior syndrome|renal dysplasia-retinal aplasia syndrome|renal dysplasia retinal aplasia|Senior Loken syndrome|nephronophthisis with retinal dystrophy|renal-retinal syndrome ordo_disease MONDO:0017843 congenital pulmonary sequestration biolink:Disease mondo UMLS:C4020703|SCTID:18620009|GARD:0004593|MESH:D001998|Orphanet:3161|NCIT:C97124|ICD10:Q33.2 A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation. UMLS:C4020703|MESH:D001998|NCIT:C97124|ORPHA:3161|SNOMEDCT:18620009 http://purl.obolibrary.org/obo/MONDO_0017843 pulmonary sequestration|bronchopulmonary sequestration|congenital bronchopulmonary sequestration|sequestered lobe (pulmonary sequestration)|congenital sequestration of lung ordo_malformation_syndrome MONDO:0017844 Sezary syndrome biolink:Disease mondo ICD9:202.2|EFO:1000785|ICD10:C84.10|SCTID:118611004|ICDO:9701/3|NCIT:C3366|DOID:8541|ICD10:C84.1|ONCOTREE:SS|Orphanet:3162|GARD:0007629|UMLS:C0036920|MESH:D012751|MedDRA:10040500|MedDRA:10040493 Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells). MEDDRA:10040493|MESH:D012751|UMLS:C0036920|SNOMEDCT:118611004|ORPHA:3162|NCIT:C3366|DOID:8541 http://purl.obolibrary.org/obo/MONDO_0017844 SC)zary syndrome|CTCL / Sezary syndrome|cutaneous T-cell lymphoma/Sezary syndrome|Sézary syndrome|Sezary disease|Sezary lymphoma|Sezary's disease|Sézary lymphoma|Sezary syndrome|SS|Sezary's lymphoma ordo_disease MONDO:0017845 spastic ataxia biolink:Disease mondo ICD10:G11.4|DOID:0050952|OMIMPS:108600|Orphanet:316226|MESH:C564815|UMLS:C1849156 ORPHA:316226|DOID:0050952|UMLS:C1849156|MESH:C564815 http://purl.obolibrary.org/obo/MONDO_0017845 SPAX ordo_group_of_disorders CHEBI:25806 oxygen molecular entity biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25806 oxygen molecular entity|oxygen molecular entities CHEBI:25805 oxygen atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25805 8O|oxygene|oxygen|oxygen|O|oxigeno|Sauerstoff MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form biolink:Disease mondo Orphanet:315311|ICD10:E25.0 The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting. ORPHA:315311 http://purl.obolibrary.org/obo/MONDO_0017840 classic 21-OHD CAH, simple virilizing form ordo_clinical_subtype MONDO:0017841 autoimmune disease with skin involvement biolink:Disease mondo DOID:0060039|UMLS:CN203818|Orphanet:315350 A hypersensitivity reaction type II disease that involves the skin of body. ORPHA:315350|DOID:0060039|UMLS:CN203818 http://purl.obolibrary.org/obo/MONDO_0017841 integument hypersensitivity reaction type II disease|autoimmune disease of skin and connective tissue|skin of body hypersensitivity reaction type II disease ordo_group_of_disorders MONDO:0003209 thymus gland adenocarcinoma biolink:Disease mondo UMLS:C1336743|DOID:4923|NCIT:C6459 A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation. DOID:4923|NCIT:C6459|UMLS:C1336743 http://purl.obolibrary.org/obo/MONDO_0003209 adenocarcinoma of the Thymus|adenocarcinoma of Thymus|thymic adenocarcinoma|Thymus adenocarcinoma|thymus adenocarcinoma UBERON:0002495 long bone biolink:AnatomicalEntity mondo Long bone is a limb bone that is subcylindrical and has a shaft with periosteum separating the ends of the bones. Long bones are present only in the limbs[VSAO:wd]. http://purl.obolibrary.org/obo/UBERON_0002495 os longum GO:0071333 cellular response to glucose stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/GO_0071333 GO:0071331 cellular response to hexose stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/GO_0071331 UBERON:0002515 periosteum biolink:AnatomicalEntity mondo the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints http://purl.obolibrary.org/obo/UBERON_0002515 UBERON:0002514 intramembranous bone biolink:AnatomicalEntity mondo Bone tissue forms directly within mesenchyme, and does not replace other tissues[TAO]. Intramembranous ossification is the formation of bone in which osteoblasts secrete a collagen-proteoglycan matrix that binds calcium salts and becomes calcified[GO]. Intramembranous ossification is the way flat bones and the shell of a turtle are formed[GO]. Unlike endochondral ossification, cartilage is not present during intramembranous ossification[WP]. http://purl.obolibrary.org/obo/UBERON_0002514 membrane bone|intramembranous bones UBERON:0002517 basicranium biolink:AnatomicalEntity mondo The base of skull is the most inferior area of the skull, composed of the endocranium and lower parts of the skull roof. http://purl.obolibrary.org/obo/UBERON_0002517 basis cranii|base of cranium|cranial base|base of skull UBERON:0014501 proximal phalanx of digit 1 biolink:AnatomicalEntity mondo A proximal phalanx that is part of a autopod digit 1 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0014501 digit I P1|proximal phalanx of digit I|proximal phalanx of first digit of autopod|first proximal phalanx of autopod|digit I-1 CHEBI:62761 tyrosine derivative biolink:ChemicalSubstance mondo An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues. http://purl.obolibrary.org/obo/CHEBI_62761 tyrosine derivatives HP:0031263 Abnormal renal corpuscle morphology biolink:PhenotypicFeature mondo Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. http://purl.obolibrary.org/obo/HP_0031263 CHEBI:35134 metalloprotein biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein|metalloproteine|metalloproteins CHEBI:35137 hemoprotein biolink:ChemicalSubstance mondo Conjugated proteins containing heme as the prosthetic group. http://purl.obolibrary.org/obo/CHEBI_35137 Haemprotein|hemoproteins|hemoprotein|heme protein|hemeproteins|haemoprotein|Haemoprotein|haem protein CHEBI:35136 iron protein biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35136 iron protein|iron-containing proteins|iron proteins UBERON:0002522 tunica media biolink:AnatomicalEntity mondo The middle layer of an artery or vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002522 tunica media vasorum UBERON:0002521 elastic tissue biolink:AnatomicalEntity mondo Connective tissue composed of elastic fibers. http://purl.obolibrary.org/obo/UBERON_0002521 elastic connective tissue|elastic fiber|textus connectivus elasticus UBERON:0002523 tunica intima biolink:AnatomicalEntity mondo The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. http://purl.obolibrary.org/obo/UBERON_0002523 Bichat's tunic|intima|tunica intima vasorum UBERON:0002507 abdominal lymph node biolink:AnatomicalEntity mondo A lymph node that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002507 parietal abdominal lymph node|abdomen lymph node|lymph node of abdomen UBERON:0002509 mesenteric lymph node biolink:AnatomicalEntity mondo The lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group. http://purl.obolibrary.org/obo/UBERON_0002509 nodi lymphoidei mesenterici|mesenteric node UBERON:0002506 iris epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a iris [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002506 epithelium of iris|epithelium pigmentosum iridis|epithelium pigmentosum (iris)|iris epithelial tissue|pigmented epithelium of iris|epithelial tissue of iris|iris epithelium|iris pigmented epithelium UBERON:0002513 endochondral bone biolink:AnatomicalEntity mondo Replacement bone that forms within cartilage. http://purl.obolibrary.org/obo/UBERON_0002513 cartilaginous bone|endochondral bones|ossified chondrogenic bone UBERON:0002512 corpus luteum biolink:AnatomicalEntity mondo A transient endocrine gland that develops from the postovulatory or atretic follicles and secretes progesterone; it is thought to be related to egg retention[PMID]. http://purl.obolibrary.org/obo/UBERON_0002512 corpus luteum of ovary|corpora lutea|ovarian corpus luteum|luteal gland CHEBI:35143 hemoglobin biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35143 haemoglobin|vertebrate haemoglobin|hemoglobin CHEBI:23132 chlorobenzenes biolink:ChemicalSubstance mondo Any organochlorine compound containing a benzene ring which is substituted by one or more chlorines. http://purl.obolibrary.org/obo/CHEBI_23132 GO:0046504 glycerol ether biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. http://purl.obolibrary.org/obo/GO_0046504 glycerol ether anabolism|glycerol ether synthesis|glycerol ether formation|glycerol ether biosynthesis GO:0010512 negative regulation of phosphatidylinositol biosynthetic process biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. http://purl.obolibrary.org/obo/GO_0010512 GO:0010513 positive regulation of phosphatidylinositol biosynthetic process biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. http://purl.obolibrary.org/obo/GO_0010513 GO:0010511 regulation of phosphatidylinositol biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. http://purl.obolibrary.org/obo/GO_0010511 CHEBI:23114 chloride salt biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23114 chlorides|chloride salts CHEBI:23117 chlorine molecular entity biolink:ChemicalSubstance mondo A halogen molecular entity containing one or more atoms of chlorine. http://purl.obolibrary.org/obo/CHEBI_23117 UBERON:0002558 organ cavity biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0002558 cavity of organ CHEBI:23116 chlorine atom biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_23116 chlorine|cloro|chlorum|17Cl|chlorine|chlore|Chlor|Cl CHEBI:50733 nutraceutical biolink:ChemicalSubstance mondo A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. http://purl.obolibrary.org/obo/CHEBI_50733 Food Supplementation|Nutritional supplement|Dietary Supplement UBERON:0014547 sacral division of spinal cord central canal biolink:AnatomicalEntity mondo Part of spinal cord central canal contained in the sacral spinal cord. It is continuous rostrally with the spinal cord central canal of the lumbar cord. http://purl.obolibrary.org/obo/UBERON_0014547 sacral spinal cord central canal|lumbosacral spinal cord central canal UBERON:0014540 white matter lamina of cerebellum biolink:AnatomicalEntity mondo The white laminae of cerebellum is subdivision of the cerebellar cortex comprised of myelinated axons lying deep to the granule cell layer of the cerebellar cortex. http://purl.obolibrary.org/obo/UBERON_0014540 isthmus gyri cingulatus|white lamina of cerebellum|white laminae of cerebellum|laminae albae of cerebellar cortex|isthmus of gyrus fornicatus|isthmus of the cingulate gyrus|laminae albae of cerebellar cortex|isthmus-2|isthmus cinguli|isthmus gyri cinguli|lamina alba of cerebellar cortex UBERON:0014541 thoracic division of spinal cord central canal biolink:AnatomicalEntity mondo Part of spinal cord central canal contained in the thoracic spinal cord. It is continuous rostrally with the cervical spinal cord central canal and caudally with the lumbar spinal cord central canal. http://purl.obolibrary.org/obo/UBERON_0014541 thoracic spinal cord central canal UBERON:0014542 cervical division of cord spinal central canal biolink:AnatomicalEntity mondo Part of central canal contained within the cervical spinal cord. It is continuous caudally with the thoracic spinal cord central canal and rostrally with the fourth ventricle of the brain via the obex http://purl.obolibrary.org/obo/UBERON_0014542 cervical spinal cord central canal UBERON:0014543 lumbar division of spinal cord central canal biolink:AnatomicalEntity mondo Part of central canal lying within the lumbar spinal cord. It is continuous rostrally with the central canal of the thoracic spinal cord and caudally with the central canal of the sacral spinal cord. http://purl.obolibrary.org/obo/UBERON_0014543 lumbar spinal cord central canal UBERON:0014538 subdivision of spinal cord central canal biolink:AnatomicalEntity mondo A subdivision of the central canal of the spinal cord along its anterior-posterior axis. This is typically subdivided into cervical, thoracic, lumbar and sacral segments http://purl.obolibrary.org/obo/UBERON_0014538 regional part of spinal cord central canal CHEBI:74783 astringent biolink:ChemicalSubstance mondo A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions. http://purl.obolibrary.org/obo/CHEBI_74783 adstringents|astringents|adstringent UBERON:0002561 lumen of central nervous system biolink:AnatomicalEntity mondo The cavity that is enclosed by the central nervous system. In vertebrates this is the cavity that includes as parts ventricular cavities and the central canal of the spinal cord that develops from the lumen of the neura tube http://purl.obolibrary.org/obo/UBERON_0002561 cavity of neuraxis|neuraxis lumen|neuraxis cavity|cavity of ventricular system of neuraxis CHEBI:23123 chloroacetate biolink:ChemicalSubstance mondo A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid. http://purl.obolibrary.org/obo/CHEBI_23123 monochloroacetic acid anion|monochloroacetate anion|mono-chloroacetate|chloroacetate|chloroacetate(1-)|Chloroacetic acid ion(1-)|chloroacetate anion UBERON:0014530 white matter lamina of neuraxis biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014530 lamina of neuraxis|neuraxis lamina UBERON:0014531 white matter lamina of diencephalon biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014531 diencephalon lamina|lamina of diencephalon UBERON:0014532 white matter lamina of cerebral hemisphere biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0014532 cerebral hemisphere lamina|lamina of cerebral hemisphere CHEBI:35106 nitrogen hydride biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydrides CHEBI:35107 azane biolink:ChemicalSubstance mondo Saturated acyclic nitrogen hydrides having the general formula NnHn+2. http://purl.obolibrary.org/obo/CHEBI_35107 azanes UBERON:0002553 anatomical cavity biolink:AnatomicalEntity mondo Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. http://purl.obolibrary.org/obo/UBERON_0002553 cavity UBERON:0002539 pharyngeal arch biolink:AnatomicalEntity mondo One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arches|branchial arch|arcus pharyngei|visceral arch PATO:0000587 decreased size biolink:OntologyClass mondo A size quality which is relatively low. http://purl.obolibrary.org/obo/PATO_0000587 reduced|underdeveloped|small|hypoplasia|tiny PATO:0000586 increased size biolink:OntologyClass mondo A size quality which is relatively high. http://purl.obolibrary.org/obo/PATO_0000586 great|large|expanded|enlarged|big CHEBI:84124 D-tyrosine derivative biolink:ChemicalSubstance mondo A non-proteinogenic amino acid derivative resulting from reaction of D-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-tyrosine by a heteroatom. http://purl.obolibrary.org/obo/CHEBI_84124 D-tyrosine derivatives HGNC:9208 POR biolink:OntologyClass mondo http://identifiers.org/hgnc/9208 HP:0031247 Whooping cough biolink:PhenotypicFeature mondo A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. http://purl.obolibrary.org/obo/HP_0031247 CHEBI:37734 phosphoric ester biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_37734 UBERON:0002544 digit biolink:AnatomicalEntity mondo A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). http://purl.obolibrary.org/obo/UBERON_0002544 acropodial unit|digit (phalangeal portion) plus soft tissue|limb digit UBERON:0002546 cranial placode biolink:AnatomicalEntity mondo Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. http://purl.obolibrary.org/obo/UBERON_0002546 ectodermal cranial placode|placode|ectodermal placode|cranial placodes HGNC:9204 PON1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9204 HGNC:9201 POMC biolink:OntologyClass mondo http://identifiers.org/hgnc/9201 HGNC:9202 POMT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9202 UBERON:0002529 limb segment biolink:AnatomicalEntity mondo A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. http://purl.obolibrary.org/obo/UBERON_0002529 segment of limb|limb region|region of limb|extremity part|free limb segment|subdivision of limb UBERON:0002528 sacral lymph node biolink:AnatomicalEntity mondo A lymph node located in the sacral region. http://purl.obolibrary.org/obo/UBERON_0002528 sacral node UBERON:0002527 pancreatic lymph node biolink:AnatomicalEntity mondo A lymph node that is part of a pancreas [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002527 pancreas lymph node|lymph node of pancreas|pancreatic node|pyloric lymph node|aJCC level 19 node HGNC:9217 POU3F4 biolink:OntologyClass mondo http://identifiers.org/hgnc/9217 HP:0031258 Delirium biolink:PhenotypicFeature mondo A state of sudden and severe confusion. http://purl.obolibrary.org/obo/HP_0031258 UBERON:0014505 proximal phalanx of digit 5 biolink:AnatomicalEntity mondo A proximal phalanx that is part of a autopod digit 5 [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0014505 fifth digit proximal phalanx|digit V P1|proximal phalanx of little digit|5th digit proximal phalanx|5th digit of autopod proximal phalanx|proximal phalanx of 5th digit|autopod digit 5 proximal phalanx|proximal phalanx of fifth digit|proximal phalanx of digit V|digit V-1|proximal phalanx of fifth digit of autopod|fifth proximal phalanx of autopod|proximal phalanx of 5th digit of autopod HGNC:9210 POU1F1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9210 UBERON:0002533 post-anal tail bud biolink:AnatomicalEntity mondo The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node. http://purl.obolibrary.org/obo/UBERON_0002533 end bud|tail bud mesenchyme|tailbud|tail bud UBERON:0002532 epiblast (generic) biolink:AnatomicalEntity mondo In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA] http://purl.obolibrary.org/obo/UBERON_0002532 epiblast|ectoblast|blastocyst|primitive ectoderm|epiblastus UBERON:0002530 gland biolink:AnatomicalEntity mondo an organ that functions as a secretory or excretory organ http://purl.obolibrary.org/obo/UBERON_0002530 glandular organ|Druese|glandula MONDO:0015090 autosomal recessive pure spastic paraplegia biolink:Disease mondo UMLS:CN228910|ICD10:G11.4|Orphanet:100982 Autosomal recessive form of pure hereditary spastic paraplegia. ORPHA:100982|UMLS:CN228910 http://purl.obolibrary.org/obo/MONDO_0015090 autosomal recessive uncomplicated spastic paraplegia|autosomal recessive uncomplicated HSP|pure hereditary spastic paraplegia, autosomal recessive|autosomal recessive pure SPG|autosomal recessive pure HSP|autosomal recessive uncomplicated SPG|autosomal recessive pure hereditary spastic paraplegia ordo_group_of_disorders MONDO:0015094 subependymal nodular heterotopia biolink:Disease mondo MedDRA:10071150|GARD:0005050|UMLS:C3160906|SCTID:699812002|ICD9:742.4|ICD10:Q04.8|Orphanet:101030 SNOMEDCT:699812002|ORPHA:101030|MEDDRA:10071150|UMLS:C3160906 http://purl.obolibrary.org/obo/MONDO_0015094 gard_rare|ordo_clinical_subtype MONDO:0015093 sub-cortical nodular heterotopia biolink:Disease mondo Orphanet:101029|ICD10:Q04.8 ORPHA:101029 http://purl.obolibrary.org/obo/MONDO_0015093 ordo_clinical_subtype MONDO:0015092 cleft hard palate biolink:Disease mondo ICD10:Q35.1|SCTID:448915004|Orphanet:101023 SNOMEDCT:448915004|ORPHA:101023 http://purl.obolibrary.org/obo/MONDO_0015092 ordo_morphological_anomaly MONDO:0015091 autosomal dominant spastic paraplegia type 9 biolink:Disease mondo ICD10:G11.4|Orphanet:100990|GARD:0009583 Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. ORPHA:100990|UMLS:C1832669 http://purl.obolibrary.org/obo/MONDO_0015091 bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy|spastic paraplegia 9|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|autosomal dominant spastic paraparesis|cataracts, motor neuronopathy, short stature and skeletal abnormalities|SPG9|autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome|ALDH18A1 autosomal dominant complex spastic paraplegia ordo_disease HP:0008873 Disproportionate short-limb short stature biolink:PhenotypicFeature mondo UMLS:C1849937 A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. http://purl.obolibrary.org/obo/HP_0008873 Dwarfism, short-limbed|Micromelic dwarfism|Brachymelic dwarfism|Short-limbed dwarfism|Short stature, disproportionate short-limb|Disproportionate short limb dwarfism|Short limb dwarfism, disproportionate|Short-limb dwarfism|Short limb dwarfism|Short stature, disproportionate short limb hposlim_core MONDO:0015098 obsolete situs inversus totalis (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015098 MONDO:0015097 aortic valve dysplasia biolink:Disease mondo ICD10:Q23.0|ICD9:746.89|Orphanet:101043|SCTID:253604004 UMLS:C0344993|SNOMEDCT:253604004|ORPHA:101043 http://purl.obolibrary.org/obo/MONDO_0015097 ordo_clinical_subtype MONDO:0015096 familial hypofibrinogenemia biolink:Disease mondo Orphanet:101041|ICD10:D68.2|GARD:0002887|UMLS:CN197419 Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. ORPHA:101041|UMLS:CN197419 http://purl.obolibrary.org/obo/MONDO_0015096 hypofibrinogenemia, familial gard_rare|ordo_clinical_subtype MONDO:0015095 Peters anomaly-cataract syndrome biolink:Disease mondo UMLS:C2931652|MESH:C537885|ICD10:Q13.3|Orphanet:101033 MESH:C537885|ORPHA:101033|UMLS:C2931652 http://purl.obolibrary.org/obo/MONDO_0015095 ordo_clinical_subtype MONDO:0015099 unilateral hemispheric polymicrogyria biolink:Disease mondo ICD10:Q04.3|Orphanet:101071 ORPHA:101071 http://purl.obolibrary.org/obo/MONDO_0015099 ordo_clinical_subtype MONDO:0015083 nuclear oculomotor paralysis biolink:Disease mondo Orphanet:100932 ORPHA:100932 http://purl.obolibrary.org/obo/MONDO_0015083 ordo_group_of_disorders MONDO:0015082 alopecia antibody deficiency biolink:Disease mondo Orphanet:1006 ORPHA:1006 http://purl.obolibrary.org/obo/MONDO_0015082 IPP-Gelfand syndrome ordo_disease MONDO:0015081 neuroendocrine tumor with other location biolink:Disease mondo UMLS:CN197376|Orphanet:100101 ORPHA:100101|UMLS:CN197376 http://purl.obolibrary.org/obo/MONDO_0015081 ordo_group_of_disorders MONDO:0015080 obsolete thymic tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015080 MONDO:0027069 mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 biolink:Disease mondo OMIM:500015 http://identifiers.org/omim/500015 http://purl.obolibrary.org/obo/MONDO_0027069 MC5DM1|mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1; MC5DM1 MONDO:0027068 mitochondrial complex 1 deficiency, mitochondrial type 1 biolink:Disease mondo OMIM:500014 Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene. http://identifiers.org/omim/500014 http://purl.obolibrary.org/obo/MONDO_0027068 mitochondrial complex I deficiency, mitochondrial type 1; MC1DM1 MONDO:0054691 immunodeficiency, common variable, 14 biolink:Disease mondo UMLS:C4540380|OMIM:617765 http://identifiers.org/omim/617765|UMLS:C4540380 http://purl.obolibrary.org/obo/MONDO_0054691 immunodeficiency, COMMON variable, 14; CVID14|CVID14 CHEBI:59174 hapten biolink:ChemicalSubstance mondo Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals. http://purl.obolibrary.org/obo/CHEBI_59174 haptens ECTO:0000481 transition element molecular entity exposure biolink:OntologyClass mondo An exposure to transition element molecular entity. http://purl.obolibrary.org/obo/ECTO_0000481 exposure to transition element molecular entity MONDO:0015087 autosomal dominant complex spastic paraplegia biolink:Disease mondo UMLS:CN226593|Orphanet:100979|ICD10:G11.4 Autosomal dominant form of complex hereditary spastic paraplegia. ORPHA:100979|UMLS:CN226593 http://purl.obolibrary.org/obo/MONDO_0015087 autosomal dominant complicated HSP|autosomal dominant complex SPG|autosomal dominant complex hereditary spastic paraplegia|autosomal dominant complicated spastic paraplegia|autosomal dominant complex HSP|complex hereditary spastic paraplegia, autosomal dominant|autosomal dominant complicated SPG ordo_group_of_disorders MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion biolink:Disease mondo UMLS:C4540345|OMIM:617760 http://identifiers.org/omim/617760|UMLS:C4540345 http://purl.obolibrary.org/obo/MONDO_0054695 myopathy, centronuclear, 6, with FIBER-type disproportion; CNM6|CNM6 MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome biolink:Disease mondo GARD:0000853|ICD10:Q87.5|UMLS:CN197384|Orphanet:100978 UMLS:CN197384|ORPHA:100978 http://purl.obolibrary.org/obo/MONDO_0015086 Benallegue-Lacete syndrome|Benallegue Lacete syndrome|cloverleaf skull and asphyxiating thoracic dysplasia gard_rare|ordo_malformation_syndrome ECTO:0000485 biological role exposure biolink:OntologyClass mondo An exposure to biological role. http://purl.obolibrary.org/obo/ECTO_0000485 exposure to biological role MONDO:0015085 bathing suit ichthyosis biolink:Disease mondo SCTID:725588002|Orphanet:100976|UMLS:C4511230|ICD10:Q80.2 Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body. ORPHA:100976|SNOMEDCT:725588002|UMLS:C4511230 http://purl.obolibrary.org/obo/MONDO_0015085 BSI ordo_disease MONDO:0015084 FRAXF syndrome biolink:Disease mondo Orphanet:100974|SCTID:716708005|UMLS:C4274329|UMLS:CN197382 FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. UMLS:CN197382|UMLS:C4274329|ORPHA:100974|SNOMEDCT:716708005 http://purl.obolibrary.org/obo/MONDO_0015084 ordo_disease MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 biolink:Disease mondo OMIM:617591 http://identifiers.org/omim/617591 http://purl.obolibrary.org/obo/MONDO_0054699 proteasome-associated autoinflammatory syndrome 3, digenic|PRAAS3|proteasome-associated autoinflammatory syndrome 3; PRAAS3 ECTO:0000487 chemical role exposure biolink:OntologyClass mondo An exposure to chemical role. http://purl.obolibrary.org/obo/ECTO_0000487 exposure to chemical role MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 biolink:Disease mondo OMIM:256040 http://identifiers.org/omim/256040 http://purl.obolibrary.org/obo/MONDO_0054698 autoinflammation, lipodystrophy, and dermatosis syndrome|proteasome-associated autoinflammatory syndrome 1; PRAAS1|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|JMP syndrome|joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|Nakajo-Nishimura syndrome|PRAAS1|proteasome-associated autoinflammatory syndrome 1, digenic ECTO:0000486 application exposure biolink:OntologyClass mondo An exposure to application. http://purl.obolibrary.org/obo/ECTO_0000486 exposure to application MONDO:0054697 immunodeficiency 11b with atopic dermatitis biolink:Disease mondo OMIM:617638|UMLS:C4539957 UMLS:C4539957|http://identifiers.org/omim/617638 http://purl.obolibrary.org/obo/MONDO_0054697 atopic dermatitis, elevated IgE, and eosinophilia|immunodeficiency 11B with ATOPIC dermatitis; IMD11B|IMD11B MONDO:0015089 autosomal recessive complex spastic paraplegia biolink:Disease mondo UMLS:CN228909|ICD10:G11.4|Orphanet:100981 Autosomal recessive form of complex hereditary spastic paraplegia. ORPHA:100981|UMLS:CN228909 http://purl.obolibrary.org/obo/MONDO_0015089 autosomal recessive complex SPG|complex hereditary spastic paraplegia, autosomal recessive|autosomal recessive complex HSP|autosomal recessive complicated SPG|autosomal recessive complex hereditary spastic paraplegia|autosomal recessive complicated HSP|autosomal recessive complicated spastic paraplegia ordo_group_of_disorders MONDO:0015088 autosomal dominant pure spastic paraplegia biolink:Disease mondo UMLS:CN226594|ICD10:G11.4|Orphanet:100980 Autosomal dominant form of pure hereditary spastic paraplegia. ORPHA:100980|UMLS:CN226594 http://purl.obolibrary.org/obo/MONDO_0015088 autosomal dominant pure HSP|autosomal dominant uncomplicated HSP|pure hereditary spastic paraplegia, autosomal dominant|autosomal dominant pure hereditary spastic paraplegia|autosomal dominant uncomplicated spastic paraplegia|autosomal dominant pure SPG|autosomal dominant uncomplicated SPG ordo_group_of_disorders MONDO:0054696 immunodeficiency 53 biolink:Disease mondo OMIM:617585|UMLS:C4539811 UMLS:C4539811|http://identifiers.org/omim/617585 http://purl.obolibrary.org/obo/MONDO_0054696 IMD53|immunodeficiency 53; IMD53 MONDO:0015072 liver neuroendocrine carcinoma biolink:Disease mondo NCIT:C96787|Orphanet:100085|UMLS:C3273031|UMLS:CN197365|SCTID:716652006|ICD10:C22.7 An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. UMLS:CN197365|ORPHA:100085|NCIT:C96787|UMLS:C3273031|SNOMEDCT:716652006 http://purl.obolibrary.org/obo/MONDO_0015072 liver neuroendocrine cancer|liver neuroendocrine carcinoma|hepatic neuroendocrine carcinoma|primary hepatic neuroendocrine carcinoma|PHNEC|HNEC|neuroendocrine carcinoma of liver|primary liver neuroendocrine carcinoma ordo_disease MONDO:0015071 middle ear neuroendocrine tumor biolink:Disease mondo Orphanet:100084|UMLS:CN197364|UMLS:C4305468|SCTID:717918002 A neuroendocrine neoplasm that involves the middle ear. UMLS:CN197364|ORPHA:100084|UMLS:C4305468|SNOMEDCT:717918002 http://purl.obolibrary.org/obo/MONDO_0015071 neuroendocrine tumor of middle ear|middle ear neuroendocrine neoplasm|middle ear NET|middle ear neuroendocrine tumor|neuroendocrine neoplasm of middle ear|middle ear neuroendocrine tumor, well differentiated, low or intermediate grade ordo_disease MONDO:0015070 laryngeal neuroendocrine neoplasm biolink:Disease mondo Orphanet:100083|NCIT:C6023|DOID:5457|UMLS:C1334374|SCTID:707625001 A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma. ORPHA:100083|SNOMEDCT:707625001|UMLS:C1334374|DOID:5457|NCIT:C6023 http://purl.obolibrary.org/obo/MONDO_0015070 larynx neuroendocrine tumor|neuroendocrine neoplasm of larynx|neuroendocrine neoplasm of the larynx|larynx neuroendocrine neoplasm|larynx neuroendocrine tumor, well differentiated, low or intermediate grade|laryngeal neuroendocrine tumor|laryngeal neuroendocrine neoplasm|larynx neuroendocrine tumor|neuroendocrine tumor of larynx|larynx NET ordo_disease MONDO:0003087 mucoepidermoid breast carcinoma biolink:Disease mondo NCIT:C5166|DOID:4679|UMLS:C1334813 A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare. NCIT:C5166|UMLS:C1334813|DOID:4679 http://purl.obolibrary.org/obo/MONDO_0003087 breast mucoepidermoid carcinoma|mucoepidermoid carcinoma of breast|mucoepidermoid carcinoma of the breast|mucoepidermoid breast carcinoma MONDO:0003088 intramuscular hemangioma biolink:Disease mondo NCIT:C3699|DOID:468|UMLS:C0205789|ICDO:9132/0 A hemangioma arising from skeletal muscle. UMLS:C0205789|NCIT:C3699|DOID:468 http://purl.obolibrary.org/obo/MONDO_0003088 intramuscular hemangioma (morphologic abnormality)|intramuscular angioma MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma biolink:Disease mondo DOID:4681|UMLS:C1332552|NCIT:C5862 A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts. NCIT:C5862|UMLS:C1332552|DOID:4681 http://purl.obolibrary.org/obo/MONDO_0003089 extrahepatic bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of the bile duct|bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of bile duct MONDO:0003083 venous hemangioma biolink:Disease mondo ICD9:228.09|UMLS:C0334532|SCTID:403968005|NCIT:C4296|ICDO:9122/0|DOID:467 A rare slow growing benign tumor of aberrant and ectatic venous connections. SNOMEDCT:403968005|NCIT:C4296|UMLS:C0334532|DOID:467 http://purl.obolibrary.org/obo/MONDO_0003083 Venous malformation|Venous angioma MONDO:0003084 uremic neuropathy biolink:Disease mondo ICD9:357.4|SCTID:11659006|NCIT:C27055|DOID:4675|UMLS:C0268708 Neuropathy resulting from uremia. UMLS:C0268708|SNOMEDCT:11659006|DOID:4675|NCIT:C27055 http://purl.obolibrary.org/obo/MONDO_0003084 MONDO:0003085 keratitis biolink:Disease mondo ICD10:H16|UMLS:C0022568|MESH:D007634|ICD9:370.8|SCTID:5888003|ICD10:H16.9|DOID:4677|NCIT:C26805|COHD:374035|ICD9:370|ICD9:370.9 A corneal disease that is characterized by inflammation of the cornea. UMLS:C0022568|NCIT:C26805|SNOMEDCT:5888003|DOID:4677|MESH:D007634 http://purl.obolibrary.org/obo/MONDO_0003085 cornea inflammation|inflammation of cornea MONDO:0003086 thymic mucoepidermoid carcinoma biolink:Disease mondo NCIT:C6457|DOID:4678|UMLS:C1334814 A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports. NCIT:C6457|UMLS:C1334814|DOID:4678 http://purl.obolibrary.org/obo/MONDO_0003086 mucoepidermoid carcinoma of Thymus|thymic mucoepidermoid carcinoma|mucoepidermoid carcinoma of the Thymus|Thymus mucoepidermoid carcinoma|thymus mucoepidermoid carcinoma MONDO:0003080 obsolete indolent systemic mastocytosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003080 MONDO:0003081 thalamic disease biolink:Disease mondo MESH:D013786|NCIT:C85186|UMLS:C0039726|DOID:4662 A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma. UMLS:C0039726|MESH:D013786|DOID:4662|NCIT:C85186 http://purl.obolibrary.org/obo/MONDO_0003081 dorsal plus ventral thalamus disease or disorder|disorder of dorsal plus ventral thalamus|disorder of dorsal plus ventral thalamus|disease of dorsal plus ventral thalamus|disease or disorder of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease MONDO:0003082 filamentary keratitis biolink:Disease mondo SCTID:51286002|UMLS:C0155077|ICD10:H16.12|ICD9:370.23|DOID:4664|COHD:380728 SNOMEDCT:51286002|DOID:4664|UMLS:C0155077 http://purl.obolibrary.org/obo/MONDO_0003082 CHEBI:59163 biomarker biolink:ChemicalSubstance mondo A substance used as an indicator of a biological state. http://purl.obolibrary.org/obo/CHEBI_59163 biological marker MONDO:0015076 obsolete rare parathyroid tumor biolink:Disease mondo Orphanet:100090 Any of the forms of tumor of parathyroid gland that have a rare incidence. ORPHA:100090 http://purl.obolibrary.org/obo/MONDO_0015076 rare tumor of parathyroid gland obsoletion_candidate|ordo_group_of_disorders MONDO:0015075 thyroid gland carcinoma biolink:Disease mondo UMLS:C0549473|SCTID:448216007|HP:0002890|NCIT:C4815|EFO:1000586|DOID:3963|MedDRA:10007476|Orphanet:100088 A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. DOID:3963|ORPHA:100088|NCIT:C4815|MEDDRA:10007476|SNOMEDCT:448216007|UMLS:C0549473 http://purl.obolibrary.org/obo/MONDO_0015075 carcinoma of the thyroid gland|carcinoma of the thyroid|carcinoma of thyroid gland|carcinoma of thyroid|cancer of the thyroid|thyroid cancer, NOS|cancer of thyroid|thyroid cancer|head and neck cancer, thyroid|thyroid gland cancer|thyroid carcinoma|thyroid gland carcinoma ordo_group_of_disorders MONDO:0015074 thyroid tumor biolink:Disease mondo NCIT:C3414|ONCOTREE:THYROID|SCTID:127018007|EFO:0003841|ICD9:239.7|Orphanet:100087 A benign or malignant neoplasm affecting the thyroid gland. ORPHA:100087|SNOMEDCT:127018007|NCIT:C3414 http://purl.obolibrary.org/obo/MONDO_0015074 tumor of the thyroid|tumor of thyroid|tumor of thyroid gland|neoplasm of the thyroid gland|neoplasm of the thyroid|neoplasm of thyroid|thyroid tumor|thyroid gland neoplasm (disease)|thyroid neoplasm|THYROID|neoplasm of thyroid gland|thyroid neoplasms|thyroid gland neoplasm|tumor of the thyroid gland|thyroid gland tumor ordo_group_of_disorders MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 biolink:Disease mondo Orphanet:100086|NCIT:C96918|UMLS:CN197366|ICD10:C23|UMLS:C3273116 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder. UMLS:CN197366|ORPHA:100086|UMLS:C3273116|NCIT:C96918 http://purl.obolibrary.org/obo/MONDO_0015073 gallbladder well differentiated endocrine tumor|gallbladder well differentiated endocrine tumor/carcinoma|gallbladder neuroendocrine tumor|gallbladder NET ordo_disease MONDO:0015079 multiple polyglandular tumor biolink:Disease mondo ICD10:D44.8|Orphanet:100094|UMLS:CN197373 UMLS:CN197373|ORPHA:100094 http://purl.obolibrary.org/obo/MONDO_0015079 ordo_group_of_disorders MONDO:0015078 obsolete gastroenteropancreatic neuroendocrine neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015078 MONDO:0015077 adrenal/paraganglial tumor biolink:Disease mondo Orphanet:100091|UMLS:CN197370 UMLS:CN197370|ORPHA:100091 http://purl.obolibrary.org/obo/MONDO_0015077 ordo_group_of_disorders MONDO:0015061 neurogenic thoracic outlet syndrome biolink:Disease mondo ICD10:G54.0|UMLS:C0751549|Orphanet:100073|SCTID:2040007 Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS. SNOMEDCT:2040007|ORPHA:100073|UMLS:C0751549 http://purl.obolibrary.org/obo/MONDO_0015061 neurogenic TOS|neurogenic thoracic outlet compression syndrome|neurogenic costoclavicular syndrome|NTOS|neurogenic cervical rib syndrome ordo_clinical_subtype MONDO:0015060 mosaic trisomy 3 biolink:Disease mondo ICD10:Q92.1|Orphanet:100071|UMLS:CN073992|SCTID:764627005|GARD:0005342 Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. ORPHA:100071|SNOMEDCT:764627005|UMLS:CN073992 http://purl.obolibrary.org/obo/MONDO_0015060 Mosaic trisomy type 3|trisomy 3 mosaicism|Mosaic trisomy chromosome 3 ordo_malformation_syndrome MONDO:0003098 mediastinal neural neoplasm biolink:Disease mondo DOID:4691|NCIT:C6624|UMLS:C1334672 A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma. NCIT:C6624|UMLS:C1334672|DOID:4691 http://purl.obolibrary.org/obo/MONDO_0003098 malignant mediastinal neurogenic neoplasm|neurogenic neoplasm of the mediastinum|neurogenic tumor of mediastinum|neurogenic neoplasm of mediastinum|mediastinal neural neoplasm|mediastinal neurogenic neoplasm|neurogenic tumor of the mediastinum|mediastinal neurogenic tumor|mediastinal neural tumor MONDO:0003099 obsolete endophthalmitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003099 MONDO:0003094 obsolete mucoepidermoid thyroid carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003094 MONDO:0003095 laryngeal mucoepidermoid carcinoma biolink:Disease mondo DOID:4688|UMLS:C1334373|NCIT:C9463 A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms. UMLS:C1334373|NCIT:C9463|DOID:4688 http://purl.obolibrary.org/obo/MONDO_0003095 laryngeal mucoepidermoid carcinoma|laryngeal throat mucoepidermoid cancer|mucoepidermoid carcinoma of larynx|mucoepidermoid carcinoma of the larynx|larynx mucoepidermoid carcinoma MONDO:0027048 deafness, Y-linked 2 biolink:Disease mondo OMIM:400047 http://identifiers.org/omim/400047 http://purl.obolibrary.org/obo/MONDO_0027048 DFNY2 MONDO:0003096 deep hemangioma biolink:Disease mondo NCIT:C6555|DOID:469|UMLS:C1333265 A hemangioma arising from the deep soft tissues. UMLS:C1333265|DOID:469|NCIT:C6555 http://purl.obolibrary.org/obo/MONDO_0003096 deep angioma|deep hemangioma MONDO:0003097 childhood mediastinal neurogenic neoplasm biolink:Disease mondo DOID:4690|NCIT:C5429|UMLS:C1332981 NCIT:C5429|UMLS:C1332981|DOID:4690 http://purl.obolibrary.org/obo/MONDO_0003097 childhood mediastinal neurogenic neoplasm|childhood neurogenic tumor of the mediastinum|pediatric neurogenic neoplasm of the mediastinum|childhood neurogenic tumor of mediastinum|pediatric neurogenic neoplasm of mediastinum|childhood mediastinal neurogenic tumor|pediatric neurogenic tumor of mediastinum|pediatric mediastinal neurogenic neoplasm|pediatric neurogenic tumor of the mediastinum|pediatric mediastinal neurogenic tumor|childhood neurogenic neoplasm of the mediastinum|childhood neurogenic neoplasm of mediastinum MONDO:0003090 extrahepatic bile duct carcinoma biolink:Disease mondo UMLS:C0238019|SCTID:372101000|DOID:4682|NCIT:C3860 A carcinoma that arises from epithelial cells of the extrahepatic bile duct. UMLS:C0238019|SNOMEDCT:372101000|NCIT:C3860|DOID:4682 http://purl.obolibrary.org/obo/MONDO_0003090 carcinoma of extrahepatic bile duct|carcinoma of the extrahepatic bile duct|extrahepatic bile duct carcinoma|extrahepatic bile duct cancer MONDO:0003091 cutaneous mucoepidermoid carcinoma biolink:Disease mondo UMLS:C0346019|NCIT:C4472|DOID:4683|SCTID:254713002 A mucoepidermoid carcinoma that involves the zone of skin. UMLS:C0346019|NCIT:C4472|SNOMEDCT:254713002|DOID:4683 http://purl.obolibrary.org/obo/MONDO_0003091 zone of skin mucoepidermoid carcinoma|mucoepidermoid skin carcinoma MONDO:0003092 lacrimal gland mucoepidermoid carcinoma biolink:Disease mondo UMLS:C1334359|DOID:4685|NCIT:C6091 An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells. UMLS:C1334359|DOID:4685|NCIT:C6091 http://purl.obolibrary.org/obo/MONDO_0003092 mucoepidermoid carcinoma of lacrimal gland|mucoepidermoid carcinoma of the lacrimal gland|lacrimal gland mucoepidermoid carcinoma MONDO:0003093 mucoepidermoid esophageal carcinoma biolink:Disease mondo NCIT:C5343|UMLS:C1333461|DOID:4686 A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO) UMLS:C1333461|DOID:4686|NCIT:C5343 http://purl.obolibrary.org/obo/MONDO_0003093 mucoepidermoid carcinoma of the esophagus|esophagus mucoepidermoid carcinoma NCBITaxon:117571 Euteleostomi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_117571 bony vertebrates NCBITaxon:117570 Teleostomi organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_117570 MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade biolink:Disease mondo Orphanet:100078|NCIT:C135092|UMLS:CN197358 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum. UMLS:CN197358|ORPHA:100078|NCIT:C135092 http://purl.obolibrary.org/obo/MONDO_0015065 ileal neuroendocrine neoplasm|ileal neuroendocrine tumor ordo_disease MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade biolink:Disease mondo Orphanet:100077|NCIT:C135090|UMLS:CN197357 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum. UMLS:CN197357|ORPHA:100077|NCIT:C135090 http://purl.obolibrary.org/obo/MONDO_0015064 jejunal neuroendocrine tumor|jejunal neuroendocrine neoplasm ordo_disease MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade biolink:Disease mondo Orphanet:100076|NCIT:C135080|UMLS:CN197356 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum. UMLS:CN197356|ORPHA:100076|NCIT:C135080 http://purl.obolibrary.org/obo/MONDO_0015063 duodenal neuroendocrine tumor ordo_group_of_disorders MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade biolink:Disease mondo NCIT:C95871|ONCOTREE:SWDNET|UMLS:CN197355|UMLS:C3272399 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. UMLS:CN197355|NCIT:C95871|UMLS:C3272399 http://purl.obolibrary.org/obo/MONDO_0015062 well-differentiated neuroendocrine tumors of the stomach|gastric well differentiated endocrine tumor/carcinoma|gastric well differentiated endocrine tumor|gastric neuroendocrine tumor|gastric NET|GNET|gastric NET G1/2 ordo_disease MONDO:0015069 neuroendocrine tumor of the anal canal biolink:Disease mondo Orphanet:100082|NCIT:C96540|UMLS:CN197362 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal. UMLS:CN197362|ORPHA:100082|NCIT:C96540 http://purl.obolibrary.org/obo/MONDO_0015069 NET of anal canal|neuroendocrine tumor of anal canal|NET of the anal canal|anal canal well differentiated tumor|anal canal well differentiated tumor/carcinoma|anal NET|anal canal neuroendocrine neoplasm|anal canal NET|neuroendocrine neoplasm of the anal canal|anal canal neuroendocrine tumor|anal Neuroendocrine tumor ordo_disease MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade biolink:Disease mondo NCIT:C135213|UMLS:CN197361 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum. UMLS:CN197361|NCIT:C135213 http://purl.obolibrary.org/obo/MONDO_0015068 rectal neuroendocrine tumor|neuroendocrine tumor of the rectum ordo_disease MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor biolink:Disease mondo NCIT:C135212 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon. NCIT:C135212 http://purl.obolibrary.org/obo/MONDO_0015067 colonic NET|colon neuroendocrine tumor|neuroendocrine neoplasm of the colon|NET of the colon|carcinoid tumor of colon ordo_disease MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade biolink:Disease mondo ONCOTREE:AWDNET|NCIT:C96422|SCTID:725167001|ICD10:C18.1|ICD10:D37.3|Orphanet:100079 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix. ORPHA:100079|NCIT:C96422|SNOMEDCT:725167001 http://purl.obolibrary.org/obo/MONDO_0015066 appendix well differentiated endocrine tumor|appendix well differentiated endocrine tumor/carcinoma|appendix neuroendocrine tumor|appendix NET|NEN of appendix|appendiceal neuroendocrine tumor|appendiceal NEN|neuroendocrine neoplasm of appendix|appendiceal neuroendocrine neoplasm|well-differentiated neuroendocrine tumor of the appendix ordo_disease GO:0009581 detection of external stimulus biolink:OntologyClass mondo The series of events in which an external stimulus is received by a cell and converted into a molecular signal. http://purl.obolibrary.org/obo/GO_0009581 perception of external stimulus GO:0009582 detection of abiotic stimulus biolink:OntologyClass mondo The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal. http://purl.obolibrary.org/obo/GO_0009582 perception of abiotic stimulus GO:0010561 negative regulation of glycoprotein biosynthetic process biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/GO_0010561 GO:0010562 positive regulation of phosphorus metabolic process biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/GO_0010562 GO:0010560 positive regulation of glycoprotein biosynthetic process biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/GO_0010560 GO:0010565 regulation of cellular ketone metabolic process biolink:OntologyClass mondo Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/GO_0010565 GO:0010566 regulation of ketone biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0010566 GO:0010563 negative regulation of phosphorus metabolic process biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/GO_0010563 GO:0010564 regulation of cell cycle process biolink:OntologyClass mondo Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. http://purl.obolibrary.org/obo/GO_0010564 MONDO:0054666 ovarian dysgenesis 5 biolink:Disease mondo OMIM:617690|UMLS:C4540141 http://identifiers.org/omim/617690|UMLS:C4540141 http://purl.obolibrary.org/obo/MONDO_0054666 ODG5|ovarian dysgenesis 5; ODG5 MONDO:0054665 pituitary adenoma 3, multiple types biolink:Disease mondo UMLS:C4540135|OMIM:617686 http://identifiers.org/omim/617686|UMLS:C4540135 http://purl.obolibrary.org/obo/MONDO_0054665 PITA3|pituitary adenoma 3, multiple types; PITA3 ECTO:0000439 formaldehyde exposure biolink:OntologyClass mondo An exposure to formaldehyde. http://purl.obolibrary.org/obo/ECTO_0000439 exposure to formaldehyde HGNC:30788 TLE6 biolink:OntologyClass mondo http://identifiers.org/hgnc/30788 CHEBI:35190 diterpene biolink:ChemicalSubstance mondo A C20 terpene. http://purl.obolibrary.org/obo/CHEBI_35190 diterpeno|diterpenos|diterpenes|Diterpen|diterpenes NCBITaxon:10508 Adenoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10508 GO:0009583 detection of light stimulus biolink:OntologyClass mondo The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal. http://purl.obolibrary.org/obo/GO_0009583 detection of light|perception of light CHEBI:62732 aromatic ester biolink:ChemicalSubstance mondo An ester where the ester linkage is bonded directly to an aromatic system. http://purl.obolibrary.org/obo/CHEBI_62732 aromatic esters GO:0009584 detection of visible light biolink:OntologyClass mondo The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm. http://purl.obolibrary.org/obo/GO_0009584 perception of visible light CHEBI:35186 terpene biolink:ChemicalSubstance mondo A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]. http://purl.obolibrary.org/obo/CHEBI_35186 Terpen|terpeno|terpenes|terpene|terpenos|terpenes MONDO:0054654 combined oxidative phosphorylation deficiency 32 biolink:Disease mondo OMIM:617664|UMLS:C4540029 UMLS:C4540029|http://identifiers.org/omim/617664 http://purl.obolibrary.org/obo/MONDO_0054654 COXPD32|combined oxidative phosphorylation deficiency 32; COXPD32 HGNC:30794 CEP57 biolink:OntologyClass mondo http://identifiers.org/hgnc/30794 HGNC:30791 UBIAD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30791 HGNC:30778 GATAD2B biolink:OntologyClass mondo http://identifiers.org/hgnc/30778 MONDO:0027091 xanthogranulomatous sialadenitis biolink:Disease mondo GARD:0009739 http://purl.obolibrary.org/obo/MONDO_0027091 xanthogranulomatous salivary gland disease|sialadenitis, xanthogranulomatous gard_rare MONDO:0054680 epiphyseal dysplasia, multiple, 7 biolink:Disease mondo DOID:0070302|OMIM:617719 http://identifiers.org/omim/617719|DOID:0070302 http://purl.obolibrary.org/obo/MONDO_0054680 multiple epiphyseal dysplasia 7|epiphyseal dysplasia, multiple, 7; EDM7|EDM7 MONDO:0054669 pontocerebellar hypoplasia, type 11 biolink:Disease mondo OMIM:617695 http://identifiers.org/omim/617695 http://purl.obolibrary.org/obo/MONDO_0054669 PCH11|pontocerebellar hypoplasia, type 11; PCH11 GO:0010558 negative regulation of macromolecule biosynthetic process biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0010558 GO:0010559 regulation of glycoprotein biosynthetic process biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/GO_0010559 GO:0010556 regulation of macromolecule biosynthetic process biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0010556 GO:0010557 positive regulation of macromolecule biosynthetic process biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0010557 HGNC:29796 LAMTOR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29796 GO:0009566 fertilization biolink:OntologyClass mondo The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/GO_0009566 syngamy MONDO:0054677 combined oxidative phosphorylation deficiency 33 biolink:Disease mondo OMIM:617713|EFO:0009159|UMLS:C4540209 http://identifiers.org/omim/617713|UMLS:C4540209 http://purl.obolibrary.org/obo/MONDO_0054677 combined oxidative phosphorylation deficiency 33; COXPD33|COXPD33 MONDO:0054736 mosaic variegated aneuploidy syndrome 3 biolink:Disease mondo OMIM:617598 http://identifiers.org/omim/617598 http://purl.obolibrary.org/obo/MONDO_0054736 MVA3|MOSAIC variegated aneuploidy syndrome 3; MVA3 HGNC:9180 POLG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9180 HGNC:9181 POLH biolink:OntologyClass mondo http://identifiers.org/hgnc/9181 GO:0071482 cellular response to light stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. http://purl.obolibrary.org/obo/GO_0071482 MONDO:0054733 spermatogenic failure 29 biolink:Disease mondo OMIM:618091 http://identifiers.org/omim/618091 http://purl.obolibrary.org/obo/MONDO_0054733 spermatogenic failure 29; SPGF29|SPGF29 MONDO:0003146 obsolete ependymoblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003146 MONDO:0003147 space motion sickness biolink:Disease mondo MESH:D018489|EFO:1001188|DOID:4796|UMLS:C0242700 Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary) UMLS:C0242700|DOID:4796|MESH:D018489 http://purl.obolibrary.org/obo/MONDO_0003147 Space adaptation syndrome|adaptation syndrome, Space|motion sickness, Space|syndrome, Space adaptation MONDO:0054739 Fraser syndrome 3 biolink:Disease mondo UMLS:C4540040|OMIM:617667 UMLS:C4540040|http://identifiers.org/omim/617667 http://purl.obolibrary.org/obo/MONDO_0054739 Fraser syndrome 3; FRASRS3|FRASRS3 MONDO:0003148 obsolete SM-AHNMD biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003148 MONDO:0054738 Fraser syndrome 2 biolink:Disease mondo OMIM:617666|UMLS:C4540036 UMLS:C4540036|http://identifiers.org/omim/617666 http://purl.obolibrary.org/obo/MONDO_0054738 Fraser syndrome 2; FRASRS2|FRASRS2 MONDO:0003149 obsolete aggressive systemic mastocytosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003149 MONDO:0054737 Fraser syndrome 1 biolink:Disease mondo OMIM:219000 http://identifiers.org/omim/219000 http://purl.obolibrary.org/obo/MONDO_0054737 cryptophthalmos-syndactyly syndrome|cryptophthalmos with Other malformations|FRASRS1|Fraser syndrome|Fraser syndrome 1; FRASRS1 MONDO:0003142 intracranial primitive neuroectodermal tumor biolink:Disease mondo NCIT:C5817|DOID:4788|UMLS:C1334246 A primitive neuroectodermal tumor that involves the brain. UMLS:C1334246|DOID:4788|NCIT:C5817 http://purl.obolibrary.org/obo/MONDO_0003142 brain primitive neuroectodermal tumor|intracranial embryonal tumor, NOS|intracranial PNET|primitive neuroectodermal tumor of brain|intracranial embryonal tumor, not otherwise specified|intracranial primitive neuroectodermal tumor|intracranial primitive neuroectodermal neoplasm MONDO:0003143 angiokeratoma biolink:Disease mondo UMLS:C0346075|NCIT:C4488|MESH:D000794|CSP:2007-0683|SCTID:254788004|DOID:479|UMLS:C0002985 A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli). SNOMEDCT:254788004|UMLS:C0346075|UMLS:C0002985|DOID:479|MESH:D000794|NCIT:C4488 http://purl.obolibrary.org/obo/MONDO_0003143 angiokeratoma of skin|angiokeratoma of the skin|skin angiokeratoma|cutaneous angiokeratoma|angiokeratoma (morphologic abnormality) MONDO:0003144 medulloepithelioma biolink:Disease mondo NCIT:C4327|Orphanet:251883|SCTID:715903004|ONCOTREE:MDEP|UMLS:C0334596|DOID:4790 A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting. ORPHA:251883|UMLS:C0334596|DOID:4790|NCIT:C4327|SNOMEDCT:715903004 http://purl.obolibrary.org/obo/MONDO_0003144 medulloepithelioma NOS (morphologic abnormality)|Diktyoma, malignant|medulloepithelioma, central nervous system|medulloepithelioma of the central nervous system|central nervous system medulloepithelioma|MDEP ordo_disease MONDO:0003145 supratentorial primitive neuroectodermal tumor biolink:Disease mondo GARD:0007366|NCIT:C6968|ICD9:209.30|SCTID:699318007|UMLS:C1336538|DOID:4791 A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region. SNOMEDCT:699318007|DOID:4791|UMLS:C1336538|NCIT:C6968 http://purl.obolibrary.org/obo/MONDO_0003145 supratent. primitive neuro. tumor|supratentorial embryonal tumor, not otherwise specified|supratentorial primitive neuroectodermal tumor|supratentorial embryonal tumor, NOS|CNS/supratentorial PNET|supratentorial PNET HGNC:29882 ISCU biolink:OntologyClass mondo http://identifiers.org/hgnc/29882 MONDO:0003140 immune-complex glomerulonephritis biolink:Disease mondo ICD9:583.89|UMLS:C0744421|SCTID:123752003|DOID:4784|NCIT:C35800 Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function. SNOMEDCT:123752003|NCIT:C35800|DOID:4784|UMLS:C0744421 http://purl.obolibrary.org/obo/MONDO_0003140 immune Complex glomerulonephritis MONDO:0003141 cerebellopontine angle embryonal tumor biolink:Disease mondo UMLS:C1332904|DOID:4787|NCIT:C5436 A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain. UMLS:C1332904|DOID:4787|NCIT:C5436 http://purl.obolibrary.org/obo/MONDO_0003141 primitive neuroectodermal tumor of C-P angle|cerebellopontine angle primitive neuroectodermal neoplasm|cerebellar Pontine angle primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of the C-P angle|C-P angle primitive neuroectodermal neoplasm|cerebellopontine angle embryonal tumor, NOS|primitive neuroectodermal neoplasm of C-P angle|C-P angle primitive neuroectodermal tumor|cerebellopontine angle primitive neuroectodermal|cerebellopontine angle primitive neuroectodermal tumor|cerebellar Pontine angle primitive neuroectodermal tumor|cerebellar Pontine angle PNET|cerebellopontine angle PNET|primitive neuroectodermal neoplasm of cerebellopontine angle|primitive neuroectodermal neoplasm of cerebellar Pontine angle|primitive neuroectodermal neoplasm of the cerebellopontine angle|primitive neuroectodermal neoplasm of the cerebellar Pontine angle|C-P angle PNET|primitive neuroectodermal tumor of cerebellar Pontine angle|primitive neuroectodermal tumor of cerebellopontine angle|primitive neuroectodermal tumor of the cerebellar Pontine angle|primitive neuroectodermal tumor of the cerebellopontine angle|primitive neuroectodermal tumor of the C-P angle|cerebellopontine angle embryonal tumor, not otherwise specified MONDO:0015139 obsolete rare epilepsy biolink:Disease mondo Orphanet:101998|UMLS:CN244924 Rare epilepsy. ORPHA:101998|UMLS:CN244924 http://purl.obolibrary.org/obo/MONDO_0015139 rare epilepsy obsoletion_candidate|ordo_group_of_disorders MONDO:0015138 obsolete rare genetic primary immunodeficiency biolink:Disease mondo Orphanet:101997|SCTID:58606001|UMLS:C0398686 SNOMEDCT:58606001|ORPHA:101997|UMLS:C0398686 http://purl.obolibrary.org/obo/MONDO_0015138 primary immunodeficiency obsoletion_candidate|ordo_group_of_disorders MONDO:0015137 periodic fever syndrome biolink:Disease mondo UMLS:C3889979|ICD10:E85.0|MedDRA:10034533|Orphanet:101995|NCIT:C118240|UMLS:C0015974 Fevers of unknown etiology recurring over months or years. ORPHA:101995|NCIT:C118240|UMLS:C3889979|UMLS:C0015974|MEDDRA:10034533 http://purl.obolibrary.org/obo/MONDO_0015137 ordo_group_of_disorders MONDO:0015136 immunodeficiency due to a genetic complement cascade protein anomaly biolink:Disease mondo Orphanet:101992|ICD10:D84.1 ORPHA:101992 http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a complement cascade protein anomaly ordo_group_of_disorders MONDO:0017798 Spigelian hernia-cryptorchidism syndrome biolink:Disease mondo UMLS:CN203757|ICD10:K43.6|Orphanet:314432 UMLS:CN203757|ORPHA:314432 http://purl.obolibrary.org/obo/MONDO_0017798 ordo_malformation_syndrome MONDO:0017799 Meigs syndrome biolink:Disease mondo Orphanet:314451|ICD9:629.89|UMLS:C0025184|MedDRA:10027139|MESH:D008539|NCIT:C3223|SCTID:63402005|ICD10:D27 A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass. NCIT:C3223|UMLS:C0025184|MESH:D008539|SNOMEDCT:63402005|ORPHA:314451|MEDDRA:10027139 http://purl.obolibrary.org/obo/MONDO_0017799 Meigs' syndrome|Demons-Meigs syndrome ordo_clinical_syndrome MONDO:0017794 Xq12-q13.3 duplication syndrome biolink:Disease mondo SCTID:764711007|ICD10:Q99.8|Orphanet:314389|UMLS:CN203749 Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. UMLS:CN203749|ORPHA:314389|SNOMEDCT:764711007 http://purl.obolibrary.org/obo/MONDO_0017794 dup(X)(q12-q13.3) ordo_malformation_syndrome MONDO:0015131 congenital combined immunodeficiency biolink:Disease mondo ICD10:D81|ICD10:D81.8|ICD10:D81.7|ICD10:D81.6|DOID:628|ICD10:D81.5|ICD10:D81.4|ICD10:D81.3|ICD10:D81.2|ICD10:D81.1|ICD10:D81.0|UMLS:C0494261|ICD10:D81.9|NCIT:C27871|ICD9:279.2|Orphanet:101972 A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. ORPHA:101972|UMLS:C0494261|DOID:628|NCIT:C27871 http://purl.obolibrary.org/obo/MONDO_0015131 congenital combined immunodeficiency|combined T and B cell immunodeficiency|combined immunodeficiency|combined T cell and B cell immunodeficiency|X-linked combined immunodeficiency ordo_group_of_disorders NCBITaxon:34503 Paragonimus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34503 MONDO:0017795 ameloblastoma biolink:Disease mondo MESH:D000564|NCIT:C4313|Orphanet:314419|UMLS:C0563212|GARD:0005747|UMLS:C0002448|ICD10:C41.1|DOID:0050894|SCTID:285311001|ICDO:9310/0|MedDRA:10066796 The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize. SNOMEDCT:285311001|UMLS:C0002448|MEDDRA:10066796|MESH:D000564|DOID:0050894|ORPHA:314419|UMLS:C0563212|NCIT:C4313 http://purl.obolibrary.org/obo/MONDO_0017795 ameloblastoma|adenomatoid odontogenic tumor|aot|adamantinoma|Adenoameloblastoma|ameloblastoma of jaw gard_rare|ordo_disease MONDO:0015130 acquired chronic primary adrenal insufficiency biolink:Disease mondo Orphanet:101963 An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual. ORPHA:101963 http://purl.obolibrary.org/obo/MONDO_0015130 acquired chronic primary adrenal insufficiency ordo_group_of_disorders NCBITaxon:34504 Paragonimus westermani organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34504 HGNC:30883 TMEM126B biolink:OntologyClass mondo http://identifiers.org/hgnc/30883 MONDO:0017796 obsolete ameloblastic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017796 NCBITaxon:34502 Troglotrematidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_34502 Paragonimidae MONDO:0017797 obsolete rare odontologic tumor biolink:Disease mondo Orphanet:314425|UMLS:CN203756 Any of the forms of odontogenic neoplasm that have a rare incidence. UMLS:CN203756|ORPHA:314425 http://purl.obolibrary.org/obo/MONDO_0017797 rare odontogenic tumor|rare odontogenic neoplasm obsoletion_candidate|ordo_group_of_disorders MONDO:0054743 polycystic liver disease 3 with or without kidney cysts biolink:Disease mondo OMIM:617874|UMLS:CN818986 Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts. http://identifiers.org/omim/617874|UMLS:CN818986 http://purl.obolibrary.org/obo/MONDO_0054743 polycystic liver disease 3 with or without kidney cysts; PCLD3|PCLD3 MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach biolink:Disease mondo UMLS:CN203740|Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. ORPHA:314022|UMLS:CN203740 http://purl.obolibrary.org/obo/MONDO_0017790 familial fundic gland polyposis with gastric cancer|GAPPS ordo_disease MONDO:0015135 primary immunodeficiency due to a genetic defect in innate immunity biolink:Disease mondo Orphanet:101988 ORPHA:101988 http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a defect in innate immunity ordo_group_of_disorders HGNC:30881 ALG13 biolink:OntologyClass mondo http://identifiers.org/hgnc/30881 MONDO:0054742 combined oxidative phosphorylation deficiency 35 biolink:Disease mondo UMLS:CN807948|OMIM:617873 http://identifiers.org/omim/617873|UMLS:CN807948 http://purl.obolibrary.org/obo/MONDO_0054742 combined oxidative phosphorylation deficiency 35; COXPD35|COXPD35 MONDO:0015134 constitutional neutropenia biolink:Disease mondo NCIT:C61242|Orphanet:101987|COHD:434895|ICD10:D70 A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. ORPHA:101987|NCIT:C61242 http://purl.obolibrary.org/obo/MONDO_0015134 Kostmann syndrome|Kostmann neutropenia|Kostmann disease|genetic infantile agranulocytosis|infantile genetic agranulocytosis|congenital neutropenia ordo_group_of_disorders MONDO:0017791 high bone mass osteogenesis imperfecta biolink:Disease mondo UMLS:CN203741|Orphanet:314029|ICD10:Q78.0 ORPHA:314029|UMLS:CN203741 http://purl.obolibrary.org/obo/MONDO_0017791 high bone mass OI ordo_disease MONDO:0015133 quantitative and/or qualitative congenital phagocyte defect biolink:Disease mondo Orphanet:101985 ORPHA:101985 http://purl.obolibrary.org/obo/MONDO_0015133 ordo_group_of_disorders MONDO:0017792 7p22.1 microduplication syndrome biolink:Disease mondo UMLS:CN203742|SCTID:764703002|Orphanet:314034|ICD10:Q92.3 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. SNOMEDCT:764703002|ORPHA:314034|UMLS:CN203742 http://purl.obolibrary.org/obo/MONDO_0017792 trisomy 7p22.1|dup(7)(p22.1) ordo_malformation_syndrome MONDO:0054741 combined oxidative phosphorylation deficiency 34 biolink:Disease mondo OMIM:617872 http://identifiers.org/omim/617872 http://purl.obolibrary.org/obo/MONDO_0054741 COXPD34|combined oxidative phosphorylation deficiency 34; COXPD34 MONDO:0054740 blepharocheilodontic syndrome 1 biolink:Disease mondo OMIM:119580|DOID:0080345 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene. http://identifiers.org/omim/119580|DOID:0080345 http://purl.obolibrary.org/obo/MONDO_0054740 BCD syndrome|Lagophthalmia with bilateral cleft 51P and palate|blepharocheilodontic syndrome 1; BCDS1|CDH1 blepharo-cheilo-odontic syndrome|blepharo-cheilo-odontic syndrome caused by mutation in CDH1|elschnig syndrome|clefting, ectropion, and conical teeth|ectropion, Inferior, with cleft 51P and/Or palate|BCDS1|blepharocheilodontic syndrome MONDO:0015132 immunodeficiency predominantly affecting antibody production biolink:Disease mondo ICD10:D80.1|ICD10:D80.0|Orphanet:101977|ICD10:D80.7|ICD10:D80.9|ICD10:D80.8|ICD10:D80.6|ICD10:D80.5|ICD10:D80.4|ICD10:D80.3|ICD10:D80.2 ORPHA:101977 http://purl.obolibrary.org/obo/MONDO_0015132 ordo_group_of_disorders MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome biolink:Disease mondo Orphanet:314041|UMLS:CN203743 UMLS:CN203743|ORPHA:314041 http://purl.obolibrary.org/obo/MONDO_0017793 ordo_malformation_syndrome MONDO:0054725 spermatogenic failure 21 biolink:Disease mondo OMIM:617644|DOID:0070163|UMLS:C4539991 UMLS:C4539991|http://identifiers.org/omim/617644|DOID:0070163 http://purl.obolibrary.org/obo/MONDO_0054725 SPGF21|spermatogenic failure 21; SPGF21 MONDO:0054724 spermatogenic failure 20 biolink:Disease mondo DOID:0070166|OMIM:617593 http://identifiers.org/omim/617593|DOID:0070166 http://purl.obolibrary.org/obo/MONDO_0054724 spermatogenic failure 20; SPGF20|SPGF20 MONDO:0054723 spermatogenic failure 19 biolink:Disease mondo OMIM:617592|DOID:0070170 http://identifiers.org/omim/617592|DOID:0070170 http://purl.obolibrary.org/obo/MONDO_0054723 SPGF19|spermatogenic failure 19; SPGF19 MONDO:0054722 geleophysic dysplasia 3 biolink:Disease mondo OMIM:617809 http://identifiers.org/omim/617809 http://purl.obolibrary.org/obo/MONDO_0054722 GPHYSD3|GELEOPHYSIC dysplasia 3; GPHYSD3 MONDO:0003157 Gorham disease biolink:Disease mondo ICD9:733.09|DOID:4837|SCTID:240161003|UMLS:C0029436 Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal. SNOMEDCT:240161003|DOID:4837|UMLS:C0029436 http://purl.obolibrary.org/obo/MONDO_0003157 disappearing bone disease|Gorham's disease|Gorham disease|essential osteolysis|phantom bone disease|Gorham-Stout syndrome|massive osteolysis MONDO:0054729 spermatogenic failure 25 biolink:Disease mondo OMIM:617960 http://identifiers.org/omim/617960 http://purl.obolibrary.org/obo/MONDO_0054729 SPGF25|spermatogenic failure 25; SPGF25 MONDO:0003158 malignant myoepithelioma biolink:Disease mondo DOID:4838|ONCOTREE:STMYEC|GARD:0010558|ICDO:8982/3|NCIT:C7596|UMLS:C0334699 An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. UMLS:C0334699|DOID:4838|NCIT:C7596 http://purl.obolibrary.org/obo/MONDO_0003158 malignant myoepithelioma|myoepithelioma carcinoma|myoepithelial carcinoma|soft tissue myoepithelial carcinoma|myoepithelioma, malignant gard_rare MONDO:0054728 spermatogenic failure 24 biolink:Disease mondo OMIM:617959|UMLS:CN244570 UMLS:CN244570|http://identifiers.org/omim/617959 http://purl.obolibrary.org/obo/MONDO_0054728 spermatogenic failure 24; SPGF24|SPGF24 MONDO:0003159 vascular hemostatic disease biolink:Disease mondo DOID:484|SCTID:21112004|UMLS:C0600502|MESH:D020141 Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets. MESH:D020141|DOID:484|SNOMEDCT:21112004|UMLS:C0600502 http://purl.obolibrary.org/obo/MONDO_0003159 vascular hemostatic disorders|hemostatic disorder, vascular|hemostatic disorders, vascular|disorder, vascular hemostatic|vascular hemostatic disorder|disorders, vascular hemostatic|hemostatic disorder MONDO:0054727 spermatogenic failure 23 biolink:Disease mondo OMIM:617707|UMLS:C4540185|DOID:0070181 http://identifiers.org/omim/617707|UMLS:C4540185|DOID:0070181 http://purl.obolibrary.org/obo/MONDO_0054727 SPGF23|spermatogenic failure 23; SPGF23 MONDO:0054726 spermatogenic failure 22 biolink:Disease mondo OMIM:617706|DOID:0070177 http://identifiers.org/omim/617706|DOID:0070177 http://purl.obolibrary.org/obo/MONDO_0054726 SPGF22|spermatogenic failure 22; SPGF22 MONDO:0003153 adult brainstem glioma biolink:Disease mondo DOID:4813|NCIT:C9091|UMLS:C0278873 A brain stem glioma that occurs in an adult. NCIT:C9091|UMLS:C0278873|DOID:4813 http://purl.obolibrary.org/obo/MONDO_0003153 adult brain stem glioma|adult brainstem glioma|glioma of adult brain stem|brain stem glioma of adults|glioma of the adult brain stem|adult brainstem neuroglial tumor|brain stem glioma|adult brainstem neuroglial neoplasm MONDO:0003154 hemangioma of peripheral nerve biolink:Disease mondo NCIT:C27507|DOID:482|UMLS:C1333956 A hemangioma arising from the peripheral nerves. UMLS:C1333956|DOID:482|NCIT:C27507 http://purl.obolibrary.org/obo/MONDO_0003154 nerve hemangioma|hemangioma of nerve|hemangioma of peripheral nerve HGNC:27232 C8orf37 biolink:OntologyClass mondo http://identifiers.org/hgnc/27232 MONDO:0003155 cavernous hemangioma biolink:Disease mondo DOID:483|ICD10:D18.0|MESH:D006392|SCTID:416824008|EFO:1000151|HP:0001048|ICDO:9121/0|NCIT:C3086|UMLS:C0018920 A hemangioma characterized by the presence of cavernous vascular spaces. SNOMEDCT:416824008|DOID:483|MESH:D006392|UMLS:C0018920|NCIT:C3086 http://purl.obolibrary.org/obo/MONDO_0003155 cavernous angioma|cavernous hemangioma|cavernous haemangioma|cavernoma|cavernous hemangioma (morphologic abnormality) HGNC:27230 ESCO2 biolink:OntologyClass mondo http://identifiers.org/hgnc/27230 MONDO:0003156 obsolete adenosquamous carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003156 MONDO:0003150 male reproductive system disease biolink:Disease mondo NCIT:C27019|DOID:48|ICD10:N40.N51|ICD10:N50.9|ICD9:600-608.99|MESH:D005832|SCTID:363194005|ICD9:608.9 A disease involving the male reproductive system. SNOMEDCT:363194005|NCIT:C27019|MESH:D005832|DOID:48 http://purl.obolibrary.org/obo/MONDO_0003150 Male reproductive system disease|disease of male reproductive system|disease or disorder of male reproductive system|disorder of male reproductive system|disorder of Male reproductive system|male reproductive system disease|Male reproductive system disorder|male reproductive system disease or disorder|disorder of male reproductive system|male reproductive disease MONDO:0003151 obsolete movement disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003151 MONDO:0003152 adult brainstem gliosarcoma biolink:Disease mondo DOID:4812|NCIT:C9370|UMLS:C1377914 NCIT:C9370|DOID:4812|UMLS:C1377914 http://purl.obolibrary.org/obo/MONDO_0003152 adult brain stem gliosarcoma|adult brainstem gliosarcoma MONDO:0015128 primary adrenal insufficiency biolink:Disease mondo Orphanet:101958|MedDRA:10052381|UMLS:C3887896|NCIT:C113172 A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary. ORPHA:101958|MEDDRA:10052381|UMLS:C3887896|NCIT:C113172 http://purl.obolibrary.org/obo/MONDO_0015128 ordo_group_of_disorders MONDO:0015127 pituitary deficiency biolink:Disease mondo Orphanet:101957|ICD10:E23.0 ORPHA:101957 http://purl.obolibrary.org/obo/MONDO_0015127 ordo_group_of_disorders GO:1900372 negative regulation of purine nucleotide biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide biosynthetic processes. http://purl.obolibrary.org/obo/GO_1900372 inhibition of purine nucleotide biosynthesis|downregulation of purine nucleotide formation|down-regulation of purine nucleotide anabolism|inhibition of purine nucleotide synthesis|negative regulation of purine nucleotide anabolism|downregulation of purine nucleotide biosynthesis|inhibition of purine nucleotide formation|downregulation of purine nucleotide biosynthetic process|down regulation of purine nucleotide anabolism|down-regulation of purine nucleotide synthesis|negative regulation of purine nucleotide synthesis|downregulation of purine nucleotide anabolism|down-regulation of purine nucleotide formation|down regulation of purine nucleotide biosynthetic process|down regulation of purine nucleotide biosynthesis|negative regulation of purine nucleotide formation|down regulation of purine nucleotide synthesis|inhibition of purine nucleotide biosynthetic process|negative regulation of purine nucleotide biosynthesis|down regulation of purine nucleotide formation|down-regulation of purine nucleotide biosynthetic process|down-regulation of purine nucleotide biosynthesis|downregulation of purine nucleotide synthesis|inhibition of purine nucleotide anabolism MONDO:0015126 polyendocrinopathy biolink:Disease mondo ICD10:E31.9|ICD10:E31.8|Orphanet:101956|ICD10:E31.1|ICD10:E31.0 ORPHA:101956 http://purl.obolibrary.org/obo/MONDO_0015126 ordo_group_of_disorders MONDO:0015125 obsolete rare thyroid disease biolink:Disease mondo Orphanet:101955 Rare thyroid disease. ORPHA:101955 http://purl.obolibrary.org/obo/MONDO_0015125 rare thyroid gland disease|rare thyroid disease obsoletion_candidate|ordo_group_of_disorders GO:1900371 regulation of purine nucleotide biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of purine nucleotide biosynthetic processes. http://purl.obolibrary.org/obo/GO_1900371 regulation of purine nucleotide biosynthesis|regulation of purine nucleotide anabolism|regulation of purine nucleotide synthesis|regulation of purine nucleotide formation MONDO:0017787 erythroderma desquamativum biolink:Disease mondo UMLS:CN203737|GARD:0002191|ICD10:L21.1|MESH:C535512|Orphanet:314|HGNC:1331 UMLS:CN203737|ORPHA:314|MESH:C535512 http://purl.obolibrary.org/obo/MONDO_0017787 Leiner disease|erythroderma desquamativum of infancy|erythroderma desquamativa of Leiner|Leiner-Moussous desquamative erythroderma|generalized erythroderma, diarrhea, and failure to thrive ordo_disease|gard_rare MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome biolink:Disease mondo Orphanet:314002|UMLS:CN203738 UMLS:CN203738|ORPHA:314002 http://purl.obolibrary.org/obo/MONDO_0017788 Dinno syndrome ordo_malformation_syndrome MONDO:0017789 idiopathic linear interstitial keratitis biolink:Disease mondo Orphanet:314017|ICD10:H16.3 Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated. ORPHA:314017 http://purl.obolibrary.org/obo/MONDO_0017789 ordo_disease MONDO:0015129 chronic primary adrenal insufficiency biolink:Disease mondo Orphanet:101959|NCIT:C26689 Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. NCIT:C26689|ORPHA:101959 http://purl.obolibrary.org/obo/MONDO_0015129 primary adrenal insufficiency, chronic|Addison's disease|Primary Hypoadrenalism|Addison's disease|Addison disease|CPAI|chronic adrenocorticoid insufficiency ordo_group_of_disorders MONDO:0017783 congenital pancreatic cyst biolink:Disease mondo ICD10:Q45.2|SCTID:204808002|Orphanet:313906 SNOMEDCT:204808002|UMLS:C0341480|ORPHA:313906 http://purl.obolibrary.org/obo/MONDO_0017783 neonatal congenital pancreatic cyst|true congenital pancreatic cyst ordo_morphological_anomaly MONDO:0015120 obsolete rare acquired eye disease biolink:Disease mondo UMLS:CN197477|Orphanet:101949 ORPHA:101949|UMLS:CN197477 http://purl.obolibrary.org/obo/MONDO_0015120 obsoletion_candidate|ordo_group_of_disorders MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma biolink:Disease mondo UMLS:CN203734|ICD10:C16.2|SCTID:716586009|Orphanet:313920|ICD10:C16.0 Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis. UMLS:CN203734|SNOMEDCT:716586009|ORPHA:313920 http://purl.obolibrary.org/obo/MONDO_0017784 EBV-associated gastric carcinoma|EBVaGC ordo_disease MONDO:0017785 PENS syndrome biolink:Disease mondo UMLS:CN203735|Orphanet:313936 PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported. UMLS:CN203735|ORPHA:313936 http://purl.obolibrary.org/obo/MONDO_0017785 papular epidermal nevi with skyline basal cell layers syndrome ordo_disease MONDO:0017786 2q23.1 microduplication syndrome biolink:Disease mondo UMLS:CN203736|Orphanet:313947|SCTID:766816008|ICD10:Q92.3 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. UMLS:CN203736|ORPHA:313947|SNOMEDCT:766816008 http://purl.obolibrary.org/obo/MONDO_0017786 trisomy 2q23.1|dup(2)(q23.1) ordo_malformation_syndrome GO:0071478 cellular response to radiation biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. http://purl.obolibrary.org/obo/GO_0071478 cellular response to electromagnetic radiation stimulus|cellular response to radiation stimulus MONDO:0054732 spermatogenic failure 28 biolink:Disease mondo OMIM:618086 http://identifiers.org/omim/618086 http://purl.obolibrary.org/obo/MONDO_0054732 SPGF28|spermatogenic failure 28; SPGF28 MONDO:0015124 obsolete rare adrenal disease biolink:Disease mondo Orphanet:101954 ORPHA:101954 http://purl.obolibrary.org/obo/MONDO_0015124 obsoletion_candidate|ordo_group_of_disorders MONDO:0017780 20p13 microdeletion syndrome biolink:Disease mondo UMLS:CN203720|ICD10:Q93.5|Orphanet:313781 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. UMLS:CN203720|ORPHA:313781 http://purl.obolibrary.org/obo/MONDO_0017780 Del(20)(p13)|20p subtelomeric deletion syndrome|monosomy 20p13 ordo_malformation_syndrome MONDO:0015123 obsolete rare inherited dyslipidemia biolink:Disease mondo Orphanet:101953 Rare lipid metabolism disorder. ORPHA:101953 http://purl.obolibrary.org/obo/MONDO_0015123 rare lipid metabolism disorder|rare dyslipidemia obsoletion_candidate|ordo_group_of_disorders MONDO:0054731 spermatogenic failure 27 biolink:Disease mondo OMIM:617965 http://identifiers.org/omim/617965 http://purl.obolibrary.org/obo/MONDO_0054731 SPGF27|spermatogenic failure 27; SPGF27 MONDO:0017781 12p12.1 microdeletion syndrome biolink:Disease mondo UMLS:CN203731|Orphanet:313884|ICD10:Q93.5 UMLS:CN203731|ORPHA:313884 http://purl.obolibrary.org/obo/MONDO_0017781 Del(12)(p12.1)|monosomy 12p12.1 ordo_malformation_syndrome MONDO:0015122 obsolete rare diabetes mellitus biolink:Disease mondo Orphanet:101952|UMLS:CN226600 Rare diabetes mellitus. ORPHA:101952|UMLS:CN226600 http://purl.obolibrary.org/obo/MONDO_0015122 rare diabetes mellitus|rare diabetes mellitus (disease) obsoletion_candidate|ordo_group_of_disorders MONDO:0054730 spermatogenic failure 26 biolink:Disease mondo UMLS:CN244573|OMIM:617961 http://identifiers.org/omim/617961|UMLS:CN244573 http://purl.obolibrary.org/obo/MONDO_0054730 spermatogenic failure 26; SPGF26|SPGF26 MONDO:0017782 developmental and speech delay due to SOX5 deficiency biolink:Disease mondo Orphanet:313892 Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). ORPHA:313892 http://purl.obolibrary.org/obo/MONDO_0017782 ordo_disease MONDO:0015121 obsolete rare eye tumor biolink:Disease mondo Orphanet:101950 Any of the forms of eye neoplasm that have a rare incidence. ORPHA:101950 http://purl.obolibrary.org/obo/MONDO_0015121 rare eye neoplasm obsoletion_candidate|ordo_group_of_disorders MONDO:0003128 classic pulmonary blastoma biolink:Disease mondo NCIT:C36054|UMLS:C1332556|DOID:4767 A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements. NCIT:C36054|UMLS:C1332556|DOID:4767 http://purl.obolibrary.org/obo/MONDO_0003128 biphasic pulmonary blastoma|classic pulmonary blastoma MONDO:0003129 epithelial predominant pulmonary blastoma biolink:Disease mondo UMLS:C1333420|NCIT:C36053|DOID:4768 A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma. NCIT:C36053|UMLS:C1333420|DOID:4768 http://purl.obolibrary.org/obo/MONDO_0003129 epithelial predominant pulmonary blastoma HGNC:30858 EFTUD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30858 HGNC:30859 SNRNP200 biolink:OntologyClass mondo http://identifiers.org/hgnc/30859 MONDO:0003124 testicular Leydig cell tumor biolink:Disease mondo UMLS:C0863027|NCIT:C6356|SCTID:67871000119105|EFO:1000569|DOID:4756 A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics. UMLS:C0863027|SNOMEDCT:67871000119105|DOID:4756|NCIT:C6356 http://purl.obolibrary.org/obo/MONDO_0003124 Leydig cell tumor of testis|Leydig cell tumor of the testis|Leydig cell tumor of testis|Leydig cell neoplasm of testis|Leydig cell neoplasm of the testis|testis Leydig cell tumor|testicular Leydig cell neoplasm|testicular Leydig cell tumor MONDO:0005787 hepatic tuberculosis biolink:Disease mondo SCTID:186273003|ICD9:017.90|DOID:407|MESH:D014386|UMLS:C0041313|EFO:0007302 Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests. SNOMEDCT:186273003|MESH:D014386|DOID:407|UMLS:C0041313 http://purl.obolibrary.org/obo/MONDO_0005787 tuberculosis of liver OBO:mondo#MISSPELLING A synonym that is recorded for consistency with another source but is a misspelling biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#MISSPELLING MONDO:0003125 testicular sex cord-stromal neoplasm biolink:Disease mondo NCIT:C6358|SCTID:702406000|UMLS:C3840076|DOID:4757 A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. NCIT:C6358|UMLS:C3840076|SNOMEDCT:702406000|DOID:4757 http://purl.obolibrary.org/obo/MONDO_0003125 testis sex cord-stromal tumor|Sex cord-stromal tumor of the testis|Sex cord-stromal neoplasm of testis|Sex cord-stromal neoplasm of the testis|sex cord-stromal tumor of testis|sex cord-stromal neoplasm|Sex cord-stromal tumor of testis|testicular Sex cord-stromal tumor|testicular sex cord-stromal neoplasm MONDO:0005786 Hepadnaviridae infectious disease biolink:Disease mondo UMLS:C0206746|MESH:D018347|EFO:0007301 Virus diseases caused by the hepadnaviridae. UMLS:C0206746|MESH:D018347 http://purl.obolibrary.org/obo/MONDO_0005786 Hepadnaviridae caused disease or disorder|Hepadnaviridae disease or disorder MONDO:0005789 hepatitis D virus infection biolink:Disease mondo ICD10:B17.0|MESH:D003699|ICD9:070.52|SCTID:707341005|DOID:2047|Orphanet:402823|EFO:0007304 Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. SNOMEDCT:707341005|MESH:D003699|ORPHA:402823|DOID:2047 http://purl.obolibrary.org/obo/MONDO_0005789 Hepatitis delta virus hepatitis|HDV|delta hepatitis|Hepatitis D virus|Hepatitis delta virus caused hepatitis|hepatitis type D|hepatitis delta ordo_disease MONDO:0003126 breast hemangioma biolink:Disease mondo DOID:476|UMLS:C0853715|NCIT:C5353 A capillary or cavernous hemangioma arising from the breast. NCIT:C5353|UMLS:C0853715|DOID:476 http://purl.obolibrary.org/obo/MONDO_0003126 breast hemangioma|angioma of breast|hemangioma of the breast|hemangioma of breast|angioma of the breast|breast angioma MONDO:0005788 hepatitis E virus infection biolink:Disease mondo SCTID:7111000119109|UMLS:C0085293|GARD:0009541|MESH:D016751|DOID:4411|EFO:0007303 Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission. SNOMEDCT:7111000119109|MESH:D016751|UMLS:C0085293|DOID:4411 http://purl.obolibrary.org/obo/MONDO_0005788 Hepatitis E virus caused hepatitis|Hepatitis E virus hepatitis|hepatitis type E gard_rare MONDO:0003127 embryoma biolink:Disease mondo UMLS:C0936282|DOID:4766 UMLS:C0936282|DOID:4766 http://purl.obolibrary.org/obo/MONDO_0003127 embryoma|blastoma MONDO:0003120 mixed testicular germ cell cancer biolink:Disease mondo UMLS:C1336720|ONCOTREE:MGCT|NCIT:C6347|DOID:4743 A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma. UMLS:C1336720|DOID:4743|NCIT:C6347 http://purl.obolibrary.org/obo/MONDO_0003120 mixed testicular germ cell tumor|testicular germ cell tumor (mixed)|mixed germ cell tumor|testicular mixed germ cell neoplasm|testis mixed germ cell tumor|mixed germ cell neoplasm of testis|mixed germ cell tumor of testis|testicular mixed germ cell tumor|mixed germ cell neoplasm of the testis|mixed germ cell tumor of the testis MONDO:0005783 hemopericardium (disease) biolink:Disease mondo ICD9:423.0|EFO:0007298|DOID:11482|UMLS:C0019064|COHD:258449|SCTID:23412002|HP:0011851 An accumulation of blood within the pericardial sac. NCIT:C111644|UMLS:C0019064|DOID:11482|SNOMEDCT:23412002 http://purl.obolibrary.org/obo/MONDO_0005783 hemopericardium|haemopericardium MONDO:0003121 middle cranial fossa meningioma biolink:Disease mondo DOID:4749|NCIT:C5586|UMLS:C1334757 A meningioma that affects the middle cranial fossa. NCIT:C5586|UMLS:C1334757|DOID:4749 http://purl.obolibrary.org/obo/MONDO_0003121 middle cranial fossa meningioma (disease)|meningioma (disease) of middle cranial fossa|meningioma of the middle cranial fossa|meningioma of middle cranial fossa MONDO:0005782 obsolete HELLP syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005782 MONDO:0003122 striatonigral degeneration biolink:Disease mondo UMLS:C0270733|ICD10:G23.2|SCTID:29618004|ICD9:333.0|NCIT:C125695|MESH:D020955|DOID:4751|OMIMPS:271930 A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements. NCIT:C125695|MESH:D020955|SNOMEDCT:29618004|UMLS:C0270733|DOID:4751 http://purl.obolibrary.org/obo/MONDO_0003122 MONDO:0005785 henipavirus infectious disease biolink:Disease mondo EFO:0007300|MESH:D045464 Infections with viruses of the genus henipavirus, family paramyxoviridae. MESH:D045464 http://purl.obolibrary.org/obo/MONDO_0005785 Henipavirus infectious disease|Henipavirus caused disease or disorder|Henipavirus disease or disorder MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome biolink:Disease mondo EFO:0007299|NCIT:C84753|ICD9:078.6|DOID:11266|ICD10:A98.5|SCTID:102455002 A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. NCIT:C84753|SNOMEDCT:102455002|DOID:11266 http://purl.obolibrary.org/obo/MONDO_0005784 hemorrhagic nephrosonephritis|Puumala virus nephropathy|hemorrhagic fever with renal syndrome|hemorrhagic fever, Russian|HFRS MONDO:0003123 obsolete multiple system atrophy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003123 GO:1900373 positive regulation of purine nucleotide biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of purine nucleotide biosynthetic processes. http://purl.obolibrary.org/obo/GO_1900373 up regulation of purine nucleotide synthesis|up-regulation of purine nucleotide formation|positive regulation of purine nucleotide biosynthesis|positive regulation of purine nucleotide synthesis|up regulation of purine nucleotide biosynthesis|upregulation of purine nucleotide anabolism|up regulation of purine nucleotide biosynthetic process|up regulation of purine nucleotide formation|activation of purine nucleotide anabolism|activation of purine nucleotide biosynthetic process|up-regulation of purine nucleotide biosynthetic process|positive regulation of purine nucleotide formation|up-regulation of purine nucleotide biosynthesis|upregulation of purine nucleotide synthesis|activation of purine nucleotide synthesis|up-regulation of purine nucleotide anabolism|upregulation of purine nucleotide formation|activation of purine nucleotide formation|activation of purine nucleotide biosynthesis|up regulation of purine nucleotide anabolism|upregulation of purine nucleotide biosynthetic process|upregulation of purine nucleotide biosynthesis|up-regulation of purine nucleotide synthesis|positive regulation of purine nucleotide anabolism MONDO:0005781 obsolete hantavirus pulmonary syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005781 MONDO:0005780 hantavirus infectious disease biolink:Disease mondo UMLS:C0242994|EFO:0007295|ICD9:079.81|MESH:D018778|SCTID:359761005|NCIT:C3899 Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. SNOMEDCT:359761005|NCIT:C3899|UMLS:C0242994|MESH:D018778 http://purl.obolibrary.org/obo/MONDO_0005780 infections, Hantavirus|Hantavirus disease or disorder|Hantavirus infection|disease due to hantavirus|disease caused by hantavirus|Hantavirus infectious disease|Hantavirus caused disease or disorder MONDO:0015117 obsolete rare hepatic and biliary tract tumor biolink:Disease mondo UMLS:CN197474|Orphanet:101943 Any of the forms of hepatobiliary neoplasm that have a rare incidence. UMLS:CN197474|ORPHA:101943 http://purl.obolibrary.org/obo/MONDO_0015117 rare hepatobiliary neoplasm obsoletion_candidate|ordo_group_of_disorders MONDO:0015116 obsolete rare biliary tract disease biolink:Disease mondo UMLS:CN197473|Orphanet:101941 Rare biliary tract disease. UMLS:CN197473|ORPHA:101941 http://purl.obolibrary.org/obo/MONDO_0015116 rare biliary tract disease obsoletion_candidate|ordo_group_of_disorders MONDO:0015115 obsolete rare genetic metabolic liver disease biolink:Disease mondo Orphanet:101940|UMLS:C0851734 UMLS:C0851734|ORPHA:101940 http://purl.obolibrary.org/obo/MONDO_0015115 obsoletion_candidate|ordo_group_of_disorders MONDO:0015114 obsolete rare parenchymal liver disease biolink:Disease mondo UMLS:CN197471|Orphanet:101939 UMLS:CN197471|ORPHA:101939 http://purl.obolibrary.org/obo/MONDO_0015114 ordo_group_of_disorders|obsoletion_candidate MONDO:0017776 nocardiosis biolink:Disease mondo ICD10:A43.1|ICD10:A43.0|EFO:0007397|GARD:0007210|SCTID:29227009|MESH:D009617|ICD10:A43.9|ICD10:A43.8|ICD10:A43|Orphanet:31204|DOID:2312|MedDRA:10029444 Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection. SNOMEDCT:29227009|ORPHA:31204|MESH:D009617|MESH:C536125|MEDDRA:10029444|DOID:2312 http://purl.obolibrary.org/obo/MONDO_0017776 lung nocardiosis|Nocardia infectious disease|Nocardia disease or disorder|Nocardia infection|Nocardia caused disease or disorder gard_rare|ordo_disease MONDO:0017777 obsolete rat-bite fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017777 MONDO:0017778 lamellar ichthyosis biolink:Disease mondo MESH:D017490|GARD:0010803|MedDRA:10023686|NCIT:C84805|Orphanet:313|ICD10:Q80.2 Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. MESH:D017490|NCIT:C84805|ORPHA:313|MEDDRA:10023686 http://purl.obolibrary.org/obo/MONDO_0017778 congenital lamellar ichthyosis|LI|classic lamellar ichthyosis ordo_disease MONDO:0015119 bronchopulmonary tumor biolink:Disease mondo Orphanet:101945|UMLS:CN197476 UMLS:CN197476|ORPHA:101945 http://purl.obolibrary.org/obo/MONDO_0015119 rare bronchopulmonary tumor ordo_group_of_disorders|obsoletion_candidate MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency biolink:Disease mondo ICD10:E77.1|ICD9:277.89|SCTID:238048001|Orphanet:3137 Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. SNOMEDCT:238048001|ORPHA:3137|UMLS:C0342850 http://purl.obolibrary.org/obo/MONDO_0017779 Schindler disease|alpha-N-acetylgalactosaminidase activity disease|NAGA deficiency|disorder of alpha-N-acetylgalactosaminidase activity|disorder of alpha-N-acetylgalactosaminidase activity ordo_disease MONDO:0015118 obsolete rare pulmonary disease biolink:Disease mondo Orphanet:101944 ORPHA:101944 http://purl.obolibrary.org/obo/MONDO_0015118 MONDO:0017772 oral erosive lichen biolink:Disease mondo Orphanet:31142|UMLS:CN203692|ICD10:L43.8 UMLS:CN203692|ORPHA:31142 http://purl.obolibrary.org/obo/MONDO_0017772 ordo_disease MONDO:0054761 microcephaly 20, primary, autosomal recessive biolink:Disease mondo OMIM:617914 http://identifiers.org/omim/617914 http://purl.obolibrary.org/obo/MONDO_0054761 MCPH20|microcephaly 20, PRIMARY, autosomal recessive; MCPH20 MONDO:0017773 hypoalphalipoproteinemia biolink:Disease mondo Orphanet:31153|ICD10:E78.6|SCTID:190785000|MedDRA:10065156|UMLS:C0473527|MESH:D052456|NCIT:C84774 A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. NCIT:C84774|MEDDRA:10065156|ORPHA:31153|SNOMEDCT:190785000|MESH:D052456|UMLS:C0473527 http://purl.obolibrary.org/obo/MONDO_0017773 ordo_group_of_disorders MONDO:0017774 hypobetalipoproteinemia biolink:Disease mondo Orphanet:31154|DOID:1390|ICD10:E78.6|UMLS:C0020597|SCTID:190786004|MESH:D006995 Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. UMLS:C0020597|ORPHA:31154|SNOMEDCT:190786004|MESH:D006995|DOID:1390 http://purl.obolibrary.org/obo/MONDO_0017774 hypo-beta-lipoproteinemia ordo_group_of_disorders MONDO:0017775 melioidosis biolink:Disease mondo MESH:D008554|UMLS:C0025229|MedDRA:10069748|DOID:5052|ICD10:A24.4|ICD10:A24.9|ICD10:A24.3|NCIT:C128336|ICD10:A24.2|ICD10:A24.1|UMLS:C0348971|ICD9:025|Orphanet:31202|UMLS:C0348970|SCTID:186312003|GARD:0009546 An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration. MEDDRA:10069748|UMLS:C0348971|UMLS:C0348970|DOID:5052|UMLS:C0025229|ORPHA:31202|NCIT:C128336|MESH:D008554|SNOMEDCT:186312003 http://purl.obolibrary.org/obo/MONDO_0017775 Nightcliff gardener's disease|Burkholderia pseudomallei infection|B pseudomallei infection|Burkholderia pseudomallei disease or disorder|Whitmore's disease|Burkholderia pseudomallei infectious disease|acute and fulminating melioidosis|Burkholderia pseudomallei caused disease or disorder|pseudoglanders|Whitmore disease|subacute and chronic melioidosis ordo_disease|gard_rare MONDO:0054765 amyloidosis, primary localized cutaneous, 3 biolink:Disease mondo OMIM:617920 http://identifiers.org/omim/617920 http://purl.obolibrary.org/obo/MONDO_0054765 amyloidosis cutis dyschromica|amyloidosis, PRIMARY LOCALIZED cutaneous, 3; PLCA3|PLCA3 MONDO:0015113 obsolete rare vascular liver disease biolink:Disease mondo Orphanet:101938 ORPHA:101938 http://purl.obolibrary.org/obo/MONDO_0015113 ordo_group_of_disorders|obsoletion_candidate MONDO:0015112 obsolete rare pancreatic disease biolink:Disease mondo Orphanet:101937 Any of the forms of pancreas disease that have a rare incidence. ORPHA:101937 http://purl.obolibrary.org/obo/MONDO_0015112 rare pancreas disease ordo_group_of_disorders|obsoletion_candidate MONDO:0054764 neurodegeneration with brain iron accumulation 8 biolink:Disease mondo UMLS:CN895591|OMIM:617917 http://identifiers.org/omim/617917|UMLS:CN895591 http://purl.obolibrary.org/obo/MONDO_0054764 NBIA8|neurodegeneration with brain iron accumulation 8; NBIA8 MONDO:0015111 gastroesophageal disease biolink:Disease mondo Orphanet:101936|UMLS:CN197468 UMLS:CN197468|ORPHA:101936 http://purl.obolibrary.org/obo/MONDO_0015111 ordo_group_of_disorders|obsoletion_candidate MONDO:0017770 Robinow-like syndrome biolink:Disease mondo SCTID:721905000|ICD10:Q87.1|Orphanet:3105|UMLS:C4302956|UMLS:CN203671 Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait. ORPHA:3105|UMLS:CN203671|SNOMEDCT:721905000|UMLS:C4302956 http://purl.obolibrary.org/obo/MONDO_0017770 Saal-Greenstein syndrome ordo_malformation_syndrome MONDO:0054763 neurodegeneration with brain iron accumulation 7 biolink:Disease mondo UMLS:CN895590|OMIM:617916 http://identifiers.org/omim/617916|UMLS:CN895590 http://purl.obolibrary.org/obo/MONDO_0054763 NBIA7|neurodegeneration with brain iron accumulation 7; NBIA7 MONDO:0015110 genetic cardiac rhythm disease biolink:Disease mondo UMLS:CN197467|Orphanet:101934 An instance of cardiac rhythm disease that is caused by a modification of the individual's genome. UMLS:CN197467|ORPHA:101934 http://purl.obolibrary.org/obo/MONDO_0015110 genetic cardiac rhythm disease ordo_group_of_disorders MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome biolink:Disease mondo NCIT:C124853|ICD10:Q51.8|Orphanet:3109|MedDRA:10065148 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). ORPHA:3109|NCIT:C124853|MEDDRA:10065148 http://purl.obolibrary.org/obo/MONDO_0017771 MRKH|Mullerian aplasia/dysgenesis|MRKH syndrome|Rokitansky syndrome|Mayer-Rokitansky-Küster-Hauser syndrome ordo_malformation_syndrome MONDO:0003139 mesangial proliferative glomerulonephritis biolink:Disease mondo DOID:4783|SCTID:35546006|NCIT:C35445|UMLS:C0221238|GARD:0009580 Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure. SNOMEDCT:35546006|NCIT:C35445|DOID:4783|UMLS:C0221238 http://purl.obolibrary.org/obo/MONDO_0003139 glomerulonephritis - mesangial proliferative|Mesangioproliferative glomerulonephritis|mesangial proliferative GN gard_rare GO:0071495 cellular response to endogenous stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/GO_0071495 MONDO:0003135 focal embolic glomerulonephritis biolink:Disease mondo UMLS:C0238143|NCIT:C35707|DOID:4779 Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia. UMLS:C0238143|NCIT:C35707|DOID:4779 http://purl.obolibrary.org/obo/MONDO_0003135 MONDO:0005798 HIV-associated nephropathy biolink:Disease mondo UMLS:C0078911|NCIT:C26918|EFO:0007313|MESH:D016263 Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. MESH:D016263|NCIT:C26918|UMLS:C0078911 http://purl.obolibrary.org/obo/MONDO_0005798 AIDS-associated nephropathy|HIVAN|AIDS-related nephropathy|HIV nephropathy MONDO:0003136 anti-basement membrane glomerulonephritis biolink:Disease mondo DOID:4780|UMLS:C1332309|NCIT:C35798 Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. UMLS:C1332309|NCIT:C35798|DOID:4780 http://purl.obolibrary.org/obo/MONDO_0003136 anti-glomerular basement Membrane antibody disease|anti-GBM antibody disease MONDO:0005797 HIV wasting syndrome biolink:Disease mondo UMLS:C0343755|MESH:D019247|EFO:0007312 Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611). UMLS:C0343755|MESH:D019247 http://purl.obolibrary.org/obo/MONDO_0005797 MONDO:0003137 diffuse glomerulonephritis biolink:Disease mondo DOID:4781|NCIT:C35799|UMLS:C0859036 Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. UMLS:C0859036|NCIT:C35799|DOID:4781 http://purl.obolibrary.org/obo/MONDO_0003137 MONDO:0054749 obsolete body mass index quantitative trait locus 19 biolink:Disease mondo OMIM:617885 http://identifiers.org/omim/617885 http://purl.obolibrary.org/obo/MONDO_0054749 BMIQ19|obesity, Susceptibility to|body MASS index quantitative trait locus 19; BMIQ19 MONDO:0003138 subacute glomerulonephritis biolink:Disease mondo DOID:4782|SCTID:123609007|NCIT:C35801|UMLS:C1263744 A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. UMLS:C1263744|NCIT:C35801|DOID:4782|SNOMEDCT:123609007 http://purl.obolibrary.org/obo/MONDO_0003138 MONDO:0054748 Fanconi anemia, complementation group S biolink:Disease mondo OMIM:617883 http://identifiers.org/omim/617883 http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation GROUP S; FANCS|FANCS MONDO:0005799 hookworm infectious disease biolink:Disease mondo EFO:0007314 Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available. http://purl.obolibrary.org/obo/MONDO_0005799 Bunostomiases|Bunostomiasis|infection, hookworm|infections, hookworm|hookworm infection MONDO:0005794 Herpesviridae infectious disease biolink:Disease mondo EFO:0007309|SCTID:23513009|MESH:D006566 Virus diseases caused by the herpesviridae. SNOMEDCT:23513009|MESH:D006566 http://purl.obolibrary.org/obo/MONDO_0005794 herpesvirus infection|herpes infection|infections, Herpesvirus|infection, Herpesviridae|Herpesviridae infections|infection, Herpesvirus|Herpesvirus infections|Herpesviridae caused disease or disorder|Herpesviridae infection|Herpesviridae disease or disorder|Herpesvirus infection|infections, Herpesviridae GO:1900389 obsolete regulation of glucose import by regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import. http://purl.obolibrary.org/obo/GO_1900389 regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter MONDO:0003131 obsolete congenital mesoblastic nephroma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003131 MONDO:0005793 obsolete herpes simplex virus keratitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005793 MONDO:0003132 obsolete rapidly progressive glomerulonephritis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003132 MONDO:0005796 HIV enteropathy biolink:Disease mondo MESH:D019053|UMLS:C0282616|EFO:0007311 A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155) UMLS:C0282616|MESH:D019053 http://purl.obolibrary.org/obo/MONDO_0005796 MONDO:0003133 exudative glomerulonephritis biolink:Disease mondo NCIT:C35706|DOID:4777|UMLS:C0546345 Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes. NCIT:C35706|DOID:4777|UMLS:C0546345 http://purl.obolibrary.org/obo/MONDO_0003133 MONDO:0003134 proliferative glomerulonephritis biolink:Disease mondo UMLS:C0235618|ICD9:583.0|DOID:4778|NCIT:C35281|SCTID:441815006 A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis. NCIT:C35281|SNOMEDCT:441815006|UMLS:C0235618|DOID:4778 http://purl.obolibrary.org/obo/MONDO_0003134 MONDO:0005795 obsolete histoplasmosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005795 MONDO:0005790 hepatitis A virus infection biolink:Disease mondo DOID:12549|SCTID:40468003|NCIT:C3096|EFO:0007305|UMLS:C0019159|MESH:D006506 Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. UMLS:C0019159|MESH:D006506|DOID:12549|NCIT:C3096|SNOMEDCT:40468003 http://purl.obolibrary.org/obo/MONDO_0005790 viral hepatitis, type A|hepatitis type A|viral hepatitis A|Hepatitis A infection|Hepatitis A MONDO:0005792 herpes simplex virus gingivostomatitis biolink:Disease mondo MESH:D013283|EFO:0007307|SCTID:57920007 Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents. MESH:D013283|SNOMEDCT:57920007 http://purl.obolibrary.org/obo/MONDO_0005792 Simplexvirus caused stomatitis|Gingivostomatitis, herpetic|Gingivostomatitides, herpetic|Simplexvirus stomatitis|herpetic stomatitis|herpetic Stomatitides|herpetic Gingivostomatitis|oral Herpes simplex|simplex, oral Herpes|Herpes simplex, oral|herpetic Gingivostomatitides|Stomatitides, herpetic GO:1900387 obsolete negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cell-cell adhesion. http://purl.obolibrary.org/obo/GO_1900387 MONDO:0003130 mesoblastic nephroma biolink:Disease mondo UMLS:C0206628|MESH:D018201|ICD9:236.99|DOID:4772|SCTID:307604008 A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult. SNOMEDCT:307604008|DOID:4772|UMLS:C0206628|MESH:D018201 http://purl.obolibrary.org/obo/MONDO_0003130 mesoblastic nephroma (morphologic abnormality)|mesoblastic nephroma MONDO:0005791 herpangina biolink:Disease mondo ICD9:074.0|SCTID:274102007|ICD10:B08.5|UMLS:C0019338|DOID:10883|EFO:0007306|COHD:132553|MESH:D006557 A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. DOID:10883|SNOMEDCT:274102007|UMLS:C0019338|MESH:D006557 http://purl.obolibrary.org/obo/MONDO_0005791 vesicular pharyngitis MONDO:0017769 acquired immunodeficiency biolink:Disease mondo Orphanet:310050 ORPHA:310050 http://purl.obolibrary.org/obo/MONDO_0017769 ordo_group_of_disorders MONDO:0015106 obsolete rare urogenital disease biolink:Disease mondo UMLS:CN197464|Orphanet:101433 ORPHA:101433|UMLS:CN197464 http://purl.obolibrary.org/obo/MONDO_0015106 obsoletion_candidate|ordo_group_of_disorders GO:1900392 obsolete regulation of transport by negative regulation of transcription from RNA polymerase II promoter biolink:OntologyClass mondo OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in regulation of transport. http://purl.obolibrary.org/obo/GO_1900392 MONDO:0015105 obsolete African tick typhus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015105 MONDO:0015104 porphyria cutanea tarda biolink:Disease mondo Orphanet:101330|MedDRA:10036183|ICD10:E80.1|DOID:3132|ONCOTREE:PCT|MESH:D017119|NCIT:C27725|UMLS:C0162566|SCTID:61860000|GARD:0007433 Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis. MESH:D017119|NCIT:C27725|ORPHA:101330|SNOMEDCT:61860000|MEDDRA:10036183|UMLS:C0162566|DOID:3132 http://purl.obolibrary.org/obo/MONDO_0015104 PCT|porphyria cutania tarda ordo_disease MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome biolink:Disease mondo UMLS:CN197455|Orphanet:101206|ICD10:Q22.2 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. ORPHA:101206|UMLS:CN197455 http://purl.obolibrary.org/obo/MONDO_0015103 APV/ADA, Fallot type|PVA/ADA, Fallot type|absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome ordo_malformation_syndrome GO:1900393 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_1900393 MONDO:0017765 disorder of magnesium transport biolink:Disease mondo ICD10:E83.4|UMLS:CN227207|Orphanet:309848 An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. ORPHA:309848|UMLS:CN227207 http://purl.obolibrary.org/obo/MONDO_0017765 inborn magnesium ion transport disorder|rare inborn error of magnesium ion transport|inborn error of magnesium ion transport|rare inborn error of magnesium ion transport ordo_group_of_disorders MONDO:0017766 disorder of manganese transport biolink:Disease mondo ICD10:E83.8|Orphanet:309851|UMLS:CN227208 ORPHA:309851|UMLS:CN227208 http://purl.obolibrary.org/obo/MONDO_0017766 ordo_group_of_disorders MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus biolink:Disease mondo ICD10:Q23.8|Orphanet:101932 ORPHA:101932 http://purl.obolibrary.org/obo/MONDO_0015109 ordo_morphological_anomaly MONDO:0017767 rheumatic fever biolink:Disease mondo ICD9:390-392.99|ICD10:I01.1|ICD9:390|SCTID:58718002|ICD10:I01.0|Orphanet:3099|EFO:1001160|ICD10:I00|MESH:D012213|NCIT:C34984|ICD10:I01.9|ICD10:I01.8|MedDRA:10039054|ICD10:I00-I02|DOID:1586|GARD:0005699|UMLS:C0035436|ICD10:I01.2 Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. UMLS:C0035436|MEDDRA:10039054|DOID:1586|ORPHA:3099|MESH:D012213|SNOMEDCT:58718002|NCIT:C34984 http://purl.obolibrary.org/obo/MONDO_0017767 ARF|inflammatory rheumatism|acute rheumatic fever|RHF - rheumatic fever ordo_disease|gard_rare MONDO:0015108 obsolete rare non-syndromic intellectual disability biolink:Disease mondo UMLS:CN226598|GARD:0012633|Orphanet:101685 Rare non-syndromic intellectual disability. ORPHA:101685|UMLS:CN226598 http://purl.obolibrary.org/obo/MONDO_0015108 rare NSID|rare intellectual disability without developmental anomaly|rare non-syndromic intellectual disability|rare non-syndromic intellectual deficiency obsoletion_candidate|ordo_disease MONDO:0017768 reflex epilepsy biolink:Disease mondo DOID:2548|Orphanet:310|SCTID:79745005|UMLS:C0270857|NCIT:C85041|MESH:D020195|EFO:1001146|ICD10:G40.8|ICD9:345.10 Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy). NCIT:C85041|DOID:2548|MESH:D020195|SNOMEDCT:79745005|ORPHA:310|UMLS:C0270857 http://purl.obolibrary.org/obo/MONDO_0017768 epilepsy, sensory-induced ordo_group_of_disorders MONDO:0015107 obsolete rare genetic eye disease biolink:Disease mondo UMLS:CN197465|Orphanet:101435 A form of eye disease that is both rare and inborn. ORPHA:101435|UMLS:CN197465 http://purl.obolibrary.org/obo/MONDO_0015107 rare genetic eye disease|rare genetic ophthalmologic disease obsoletion_candidate|ordo_group_of_disorders MONDO:0017761 disorder of mineral absorption and transport biolink:Disease mondo ICD10:E83.8|ICD10:E83.5|ICD10:E83.4|ICD10:E83.3|ICD10:E83.2|ICD10:E83.1|ICD10:E83.0|UMLS:CN227205|Orphanet:309836|ICD10:E83.9 ORPHA:309836|UMLS:CN227205 http://purl.obolibrary.org/obo/MONDO_0017761 ordo_group_of_disorders MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 biolink:Disease mondo UMLS:CN842244|OMIM:617892 UMLS:CN842244|http://identifiers.org/omim/617892 http://purl.obolibrary.org/obo/MONDO_0054750 ALS24|amyotrophic lateral sclerosis, susceptibility to, 24; ALS24 predisposition MONDO:0017762 disorder of copper metabolism biolink:Disease mondo SCTID:79886009|ICD9:275.1|COHD:436672|UMLS:CN043585|ICD10:E83.0|MedDRA:10061091|UMLS:C0012714|Orphanet:309839 An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. SNOMEDCT:79886009|ORPHA:309839|UMLS:CN043585|UMLS:C0012714|MEDDRA:10061091 http://purl.obolibrary.org/obo/MONDO_0017762 rare inborn error of cellular copper ion homeostasis|copper Transport disorders|inborn cellular copper ion homeostasis disorder|rare inborn error of cellular copper ion homeostasis|inborn error of cellular copper ion homeostasis ordo_group_of_disorders MONDO:0017763 disorder of iron metabolism and transport biolink:Disease mondo Orphanet:309842|UMLS:CN227206|ICD10:E83.1 ORPHA:309842|UMLS:CN227206 http://purl.obolibrary.org/obo/MONDO_0017763 ordo_group_of_disorders MONDO:0017764 disorder of zinc metabolism biolink:Disease mondo MedDRA:10048260|Orphanet:309845|ICD9:275.8|ICD10:E83.2|SCTID:46727001 ORPHA:309845|UMLS:C0268085|MEDDRA:10048260|SNOMEDCT:46727001 http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism and transport ordo_group_of_disorders MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 biolink:Disease mondo OMIM:617900|UMLS:CN865669 http://identifiers.org/omim/617900|UMLS:CN865669 http://purl.obolibrary.org/obo/MONDO_0054754 IIAE8|encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8; IIAE8|Herpes simplex encephalitis, Susceptibility to, 6 predisposition MONDO:0015102 non-secreting chemodectoma biolink:Disease mondo Orphanet:101106 ORPHA:101106 http://purl.obolibrary.org/obo/MONDO_0015102 non-functioning chemodectoma|non-secreting chemodectoma ordo_clinical_subtype MONDO:0015101 Marin-Amat syndrome biolink:Disease mondo UMLS:CN197448|ICD10:Q07.8|Orphanet:101104 ORPHA:101104|UMLS:CN197448 http://purl.obolibrary.org/obo/MONDO_0015101 ordo_clinical_subtype MONDO:0015100 aregenerative anemia biolink:Disease mondo Orphanet:101096|ICD10:D46.7|MedDRA:10054329|UMLS:C0553669|SCTID:89112009 SNOMEDCT:89112009|ORPHA:101096|MEDDRA:10054329|UMLS:C0553669 http://purl.obolibrary.org/obo/MONDO_0015100 ordo_disease MONDO:0054752 multiple synostoses syndrome 4 biolink:Disease mondo UMLS:CN842246|OMIM:617898 UMLS:CN842246|http://identifiers.org/omim/617898 http://purl.obolibrary.org/obo/MONDO_0054752 multiple synostoses syndrome 4; SYNS4|SYNS4 MONDO:0017760 disorder of other vitamins and cofactors metabolism and transport biolink:Disease mondo Orphanet:309833|UMLS:CN227204 ORPHA:309833|UMLS:CN227204 http://purl.obolibrary.org/obo/MONDO_0017760 ordo_group_of_disorders HGNC:17893 PGAP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17893 GO:0071496 cellular response to external stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/GO_0071496 HGNC:30839 KRT25 biolink:OntologyClass mondo http://identifiers.org/hgnc/30839 HGNC:30836 POC1B biolink:OntologyClass mondo http://identifiers.org/hgnc/30836 MONDO:0015171 congenital enterocyte heparan sulfate deficiency biolink:Disease mondo SCTID:725591002|ICD10:P78.3|Orphanet:103910 Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life. SNOMEDCT:725591002|ORPHA:103910 http://purl.obolibrary.org/obo/MONDO_0015171 ordo_disease MONDO:0030720 trichomonal vulvovaginitis biolink:Disease mondo UMLS:C2945558|SCTID:81598001|ICD9:131.01 An vulvovaginitis caused by infection with Trichomonas vaginalis. SNOMEDCT:81598001|UMLS:C2945558 http://purl.obolibrary.org/obo/MONDO_0030720 trichomonal leukorrhea|Trichomonas vaginalis vulvovaginitis|leukorrhea vaginalis - trichomonal|Trichomonas vaginalis caused vulvovaginitis|trichomonal vulvovaginitis MONDO:0015170 congenital sodium diarrhea biolink:Disease mondo ICD10:P78.3|Orphanet:103908|SCTID:18805001 Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. SNOMEDCT:18805001|ORPHA:103908 http://purl.obolibrary.org/obo/MONDO_0015170 Na-H exchange deficiency ordo_disease HGNC:30832 TRAPPC9 biolink:OntologyClass mondo http://identifiers.org/hgnc/30832 MONDO:0003186 esophageal adenoid cystic carcinoma biolink:Disease mondo NCIT:C5342|UMLS:C1333441|DOID:4878 An infrequent esophageal carcinoma arising from esophageal glands. (WHO) DOID:4878|NCIT:C5342|UMLS:C1333441 http://purl.obolibrary.org/obo/MONDO_0003186 adenoid cystic carcinoma of the esophagus|adenoid cystic carcinoma of esophagus|esophageal adenoid cystic carcinoma|adenoid cystic esophagus carcinoma|esophageal adenoid cystic cancer|esophagus adenoid cystic carcinoma|adenoid cystic carcinoma, esophagus MONDO:0003187 Bartholin gland adenoid cystic carcinoma biolink:Disease mondo NCIT:C40295|DOID:4879|UMLS:C1511047 A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns. UMLS:C1511047|DOID:4879|NCIT:C40295 http://purl.obolibrary.org/obo/MONDO_0003187 major vestibular gland adenoid cystic carcinoma|Bartholin's gland adenoid cystic carcinoma|Bartholin gland adenoid cystic carcinoma MONDO:0003188 obsolete juvenile myoclonic epilepsy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003188 HGNC:29843 NSMF biolink:OntologyClass mondo http://identifiers.org/hgnc/29843 MONDO:0003189 middle ear adenocarcinoma biolink:Disease mondo NCIT:C6848|UMLS:C1334758|DOID:4892 A carcinoma that arises from glandular epithelial cells of the middle ear DOID:4892|NCIT:C6848|UMLS:C1334758 http://purl.obolibrary.org/obo/MONDO_0003189 adenocarcinoma of the middle Ear|adenocarcinoma of middle ear|adenocarcinoma of the middle ear|middle ear adenocarcinoma|middle Ear adenocarcinoma|adenocarcinoma of middle Ear MONDO:0003182 anterior horn disease biolink:Disease mondo DOID:4873|ICD9:335|ICD9:335.9 Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis. DOID:4873 http://purl.obolibrary.org/obo/MONDO_0003182 disorder of ventral horn of spinal cord|ventral horn of spinal cord disease|disease or disorder of ventral horn of spinal cord|ventral horn of spinal cord disease or disorder|disease of ventral horn of spinal cord|disorder of ventral horn of spinal cord MONDO:0003183 obsolete trachea adenoid cystic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003183 MONDO:0003184 trachea carcinoma biolink:Disease mondo NCIT:C9347|UMLS:C1744708|EFO:1000599|DOID:4876 A carcinoma that arises from epithelial cells of the trachea. DOID:4876|UMLS:C1744708|NCIT:C9347 http://purl.obolibrary.org/obo/MONDO_0003184 Ca trachea|trachea cancer|cancer of trachea|Pancoast's tumor|carcinoma of the trachea|cancer of the trachea|carcinoma of trachea|trachea carcinoma|tracheal carcinoma MONDO:0003185 adenoid cystic breast carcinoma biolink:Disease mondo UMLS:C1332167|ONCOTREE:ACBC|NCIT:C5130|EFO:1000071|DOID:4877 An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. DOID:4877|NCIT:C5130|UMLS:C1332167 http://purl.obolibrary.org/obo/MONDO_0003185 adenoid cystic breast cancer|breast adenoid cystic carcinoma|adenocystic carcinoma of breast|adenoid cystic carcinoma of breast|adenocystic carcinoma of the breast|mammary adenocystic carcinoma|adenocystic breast carcinoma|adenoid cystic carcinoma of the breast|adenoid cystic breast carcinoma|mammary adenoid cystic carcinoma MONDO:0042705 prostatic malacoplakia associated with prostatic abscess biolink:Disease mondo UMLS:C2931457|MESH:C537244|GARD:0000149 UMLS:C2931457|MESH:C537244 http://purl.obolibrary.org/obo/MONDO_0042705 prostatic malacoplakia with prostatic and seminal vesicle abscess gard_rare MONDO:0003180 cutaneous adenocystic carcinoma biolink:Disease mondo DOID:4871|SCTID:254711000|UMLS:C0346017|NCIT:C4471 A adenoid cystic carcinoma that involves the skin of body. DOID:4871|SNOMEDCT:254711000|UMLS:C0346017|NCIT:C4471 http://purl.obolibrary.org/obo/MONDO_0003180 skin of body adenoid cystic carcinoma|adenoid cystic eccrine carcinoma of skin|primary cutaneous adenocystic carcinoma|adenoid cystic eccrine carcinoma (morphologic abnormality)|adenoid cystic skin carcinoma|adenoid cystic cutaneous carcinoma|adenoid cystic carcinoma of skin|adenoid cystic eccrine carcinoma|adenoid cystic carcinoma of the skin OIO:SynonymTypeProperty synonym_type_property biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#SynonymTypeProperty MONDO:0003181 lung adenoid cystic carcinoma biolink:Disease mondo DOID:4872|NCIT:C5666|ICD9:162.9|UMLS:C1334439|ONCOTREE:LUACC|SCTID:707466008 A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain. DOID:4872|NCIT:C5666|UMLS:C1334439|SNOMEDCT:707466008 http://purl.obolibrary.org/obo/MONDO_0003181 pulmonary adenocystic carcinoma|lung adenocystic carcinoma|lung adenoid cystic cancer|adenocystic carcinoma of lung|adenocystic carcinoma of the lung|adenoid cystic carcinoma of the lung|pulmonary adenoid cystic carcinoma|LUACC|adenoid cystic carcinoma of lung|lung adenoid cystic carcinoma HGNC:17866 HAVCR1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17866 HGNC:17869 AFF4 biolink:OntologyClass mondo http://identifiers.org/hgnc/17869 MONDO:0015175 autoimmune pancreatitis biolink:Disease mondo SCTID:448542008|ICD10:K86.1|GARD:0010911|Orphanet:103919|UMLS:C2609129|DOID:0040091|MedDRA:10069002 Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. MEDDRA:10069002|UMLS:C2609129|ORPHA:103919|SNOMEDCT:448542008|DOID:0040091 http://purl.obolibrary.org/obo/MONDO_0015175 lymphoplasmocytic sclerosing pancreatitis|AIP ordo_disease MONDO:0015174 autoimmune enteropathy type 3 biolink:Disease mondo Orphanet:103917|UMLS:CN226617|ICD10:K52.8 ORPHA:103917|UMLS:CN226617 http://purl.obolibrary.org/obo/MONDO_0015174 ordo_disease MONDO:0015173 obsolete autoimmune enteropathy type 2 biolink:Disease mondo Orphanet:103916|UMLS:CN226616|ICD10:K52.8 ORPHA:103916|UMLS:CN226616 http://purl.obolibrary.org/obo/MONDO_0015173 ordo_disease MONDO:0015172 obsolete epithelio-exfoliative colitis-deafness syndrome biolink:Disease mondo UMLS:CN226615|Orphanet:103912|ICD10:P78.3 This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness. ORPHA:103912|UMLS:CN226615 http://purl.obolibrary.org/obo/MONDO_0015172 MONDO:0015179 intestinal disease due to vitamin absorption anomaly biolink:Disease mondo Orphanet:104004|UMLS:CN197521 ORPHA:104004|UMLS:CN197521 http://purl.obolibrary.org/obo/MONDO_0015179 ordo_group_of_disorders MONDO:0015178 congenital intestinal transport defect biolink:Disease mondo Orphanet:104003 ORPHA:104003 http://purl.obolibrary.org/obo/MONDO_0015178 ordo_group_of_disorders MONDO:0015177 metaphyseal anadysplasia biolink:Disease mondo SCTID:254085009|MESH:C537351|GARD:0003562|Orphanet:1040|UMLS:C0432226|ICD10:Q78.5|ICD9:756.9 Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. UMLS:C0432226|SNOMEDCT:254085009|ORPHA:1040|MESH:C537351 http://purl.obolibrary.org/obo/MONDO_0015177 regressive metaphyseal dysplasia|Maroteaux Verloes Stanescu syndrome|MAD|early-onset regressive form of metaphyseal dysplasia|Maroteaux-Verloes-Stanescu syndrome ordo_disease|gard_rare HGNC:17861 TRAF3IP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17861 MONDO:0015176 undetermined colitis biolink:Disease mondo ICD10:K52.3|Orphanet:103920 Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen. ORPHA:103920 http://purl.obolibrary.org/obo/MONDO_0015176 ordo_disease MONDO:0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome biolink:Disease mondo Orphanet:102284 ORPHA:102284 http://purl.obolibrary.org/obo/MONDO_0015160 MCA/variable MR|multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome ordo_group_of_disorders MONDO:0003197 granular cell carcinoma biolink:Disease mondo ICDO:8320/3|UMLS:C0205644|DOID:4903|NCIT:C3681 An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm. DOID:4903|UMLS:C0205644|NCIT:C3681 http://purl.obolibrary.org/obo/MONDO_0003197 granular cell carcinoma|granular cell adenocarcinoma|granular cell carcinoma (morphologic abnormality) HGNC:29853 HECW2 biolink:OntologyClass mondo http://identifiers.org/hgnc/29853 MONDO:0003198 small intestine adenocarcinoma biolink:Disease mondo UMLS:C0278803|DOID:4906|Orphanet:104075|GARD:0013090|SCTID:424440001|NCIT:C7888|EFO:1000532|ICD10:D01.4 An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. ORPHA:104075|UMLS:C0278803|DOID:4906|NCIT:C7888|SNOMEDCT:424440001 http://purl.obolibrary.org/obo/MONDO_0003198 small intestine adenocarcinoma|adenocarcinoma - small intest.|adenocarcinoma of the small instestine|small bowel adenocarcinoma|adenocarcinoma of small bowel|adenocarcinoma of the small bowel|adenocarcinoma of small intestine|small intestinal adenocarcinoma|adenocarcinoma of small instestine|adenocarcinoma of the small intestine ordo_disease MONDO:0003199 anal carcinoma biolink:Disease mondo DOID:4908|SCTID:448315008|NCIT:C9291|UMLS:C0279637 A carcinoma that arises from epithelial cells of the anus DOID:4908|SNOMEDCT:448315008|NCIT:C9291|UMLS:C0279637 http://purl.obolibrary.org/obo/MONDO_0003199 anal cancer|anal carcinoma|anus carcinoma|Ca anus|cancer of anus|cancer of the anus|carcinoma of the anus|anal cancer, NOS|carcinoma of anus MONDO:0003193 bile duct adenocarcinoma biolink:Disease mondo NCIT:C27813|UMLS:C1370800|DOID:4896 A carcinoma that arises from glandular epithelial cells of the bile duct DOID:4896|NCIT:C27813|UMLS:C1370800 http://purl.obolibrary.org/obo/MONDO_0003193 bile duct adenocarcinoma MONDO:0003194 hemangioma of lung biolink:Disease mondo DOID:490 A hemangioma that involves the lung. DOID:490 http://purl.obolibrary.org/obo/MONDO_0003194 pulmonary hemangioma|lung hemangioma MONDO:0003195 peritoneal serous adenocarcinoma biolink:Disease mondo DOID:4901 A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary. DOID:4901 http://purl.obolibrary.org/obo/MONDO_0003195 peritoneum serous adenocarcinoma|primary peritoneal serous adenocarcinoma HGNC:30829 TUBB2B biolink:OntologyClass mondo http://identifiers.org/hgnc/30829 MONDO:0003196 appendix carcinoma biolink:Disease mondo SCTID:448992002|DOID:4902|NCIT:C9330|UMLS:C0728951 A carcinoma that arises from epithelial cells of the vermiform appendix DOID:4902|UMLS:C0728951|SNOMEDCT:448992002|NCIT:C9330 http://purl.obolibrary.org/obo/MONDO_0003196 appendix carcinoma|carcinoma of vermiform appendix|appendix cancer|vermiform appendix carcinoma|carcinoma of appendix|Ca appendix|carcinoma of the appendix MONDO:0003190 middle ear carcinoma biolink:Disease mondo DOID:4893|NCIT:C6089|UMLS:C1334760 A carcinoma that arises from epithelial cells of the middle ear UMLS:C1334760|DOID:4893|NCIT:C6089 http://purl.obolibrary.org/obo/MONDO_0003190 carcinoma of the middle ear|carcinoma of middle ear|middle Ear carcinoma|carcinoma of middle Ear|carcinoma of the middle Ear|middle ear carcinoma MONDO:0003191 rete ovarii adenocarcinoma biolink:Disease mondo UMLS:C3840223|DOID:4894|NCIT:C40017 An exceptionally rare adenocarcinoma that arises from the rete ovarii. UMLS:C3840223|NCIT:C40017|DOID:4894 http://purl.obolibrary.org/obo/MONDO_0003191 rete ovarii adenocarcinoma MONDO:0015169 chronic diarrhea due to glucoamylase deficiency biolink:Disease mondo ICD10:E74.3|SCTID:716277000|Orphanet:103907|UMLS:C4275068 This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. ORPHA:103907|UMLS:C4275068|SNOMEDCT:716277000 http://purl.obolibrary.org/obo/MONDO_0015169 maltase glucoamylase deficiency|maltase-glucoamylase deficiency|chronic diarrhea due to glucoamylase deficiency ordo_disease MONDO:0042717 Saul-Wilkes-Stevenson syndrome biolink:Disease mondo GARD:0000161|MESH:C536617|UMLS:C2931266 UMLS:C2931266|MESH:C536617 http://purl.obolibrary.org/obo/MONDO_0042717 Saul Wilkes Stevenson syndrome gard_rare MONDO:0003192 rete ovarii neoplasm biolink:Disease mondo UMLS:C1514909|NCIT:C40016|DOID:4895 A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma. NCIT:C40016|UMLS:C1514909|DOID:4895 http://purl.obolibrary.org/obo/MONDO_0003192 rete ovarii neoplasm (disease)|neoplasm of rete ovarii|rete ovarii tumor|tumor of rete ovarii HGNC:17877 NMNAT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/17877 MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent biolink:Disease mondo Orphanet:102379|ICD10:C92.8|UMLS:CN197504 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). ORPHA:102379|UMLS:CN197504 http://purl.obolibrary.org/obo/MONDO_0015164 AML and myelodysplastic syndromes related to alkylating agent ordo_disease MONDO:0015163 primary glomerular disease biolink:Disease mondo UMLS:CN197503|Orphanet:102373 ORPHA:102373|UMLS:CN197503 http://purl.obolibrary.org/obo/MONDO_0015163 ordo_group_of_disorders HGNC:30831 TDRD7 biolink:OntologyClass mondo http://identifiers.org/hgnc/30831 MONDO:0015162 obsolete rare syndromic intellectual disability biolink:Disease mondo UMLS:CN226611|Orphanet:102369 Rare syndromic intellectual disability. ORPHA:102369|UMLS:CN226611 http://purl.obolibrary.org/obo/MONDO_0015162 rare syndromic intellectual disability ordo_group_of_disorders|obsoletion_candidate MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability biolink:Disease mondo Orphanet:102285 ORPHA:102285 http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies without intellectual disability with or without dysmorphism|MCA without intellectual disability ordo_group_of_disorders MONDO:0015168 arthrogryposis multiplex congenita biolink:Disease mondo ICD10:Q74.3|Orphanet:1037|MedDRA:10051643|OMIMPS:617468|GARD:0000777 Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. ORPHA:1037|MEDDRA:10051643|MESH:C536613|UMLS:C2931264 http://purl.obolibrary.org/obo/MONDO_0015168 Guerin-Stern syndrome|congenital amyoplasia|myodysplasia|amyoplasia congenita|rocher-Sheldon syndrome|fibrous ankylosis of multiple joints|congenital arthromyodysplasia|multiple congenital arthrogryposis|Rossi syndrome|AMC|Arthromyodysplasia congenita|Guérin-Stern syndrome|Otto syndrome|myodystrophia fetalis deformans ordo_group_of_disorders|clingen HGNC:17870 INVS biolink:OntologyClass mondo http://identifiers.org/hgnc/17870 MONDO:0015167 amniotic band syndrome biolink:Disease mondo ICD10:Q79.8|SCTID:440214006|Orphanet:1034|GARD:0000429|MESH:D000652|NCIT:C84552 Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies. ORPHA:1034|MESH:D000652|NCIT:C84552|SNOMEDCT:440214006|UMLS:C1527388 http://purl.obolibrary.org/obo/MONDO_0015167 amniotic band constriction|deformity due to amniotic band|congenital constricting bands|Adam syndrome|amniotic deformity-adhesion-mutilation syndrome|amniotic bands sequence|familial amniotic bands|amniotic bands ordo_group_of_disorders MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation biolink:Disease mondo ICD10:C92.0|Orphanet:102724 ORPHA:102724 http://purl.obolibrary.org/obo/MONDO_0015166 AML with t(8;21)(q22;q22) translocation ordo_disease MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor biolink:Disease mondo UMLS:CN197505|Orphanet:102381|ICD10:C92.0 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. ORPHA:102381|UMLS:CN197505 http://purl.obolibrary.org/obo/MONDO_0015165 AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor ordo_disease MONDO:0003168 cerebellar pilocytic astrocytoma biolink:Disease mondo NCIT:C6809|DOID:4853|SCTID:277507004|UMLS:C0349620 A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis. DOID:4853|SNOMEDCT:277507004|UMLS:C0349620|NCIT:C6809 http://purl.obolibrary.org/obo/MONDO_0003168 cerebellum pilocytic astrocytoma|pilocytic astrocytoma of cerebellum|pilocytic astrocytoma of the cerebellum|cerebellar pilocytic astrocytoma MONDO:0003169 diencephalic astrocytomas biolink:Disease mondo DOID:4855|UMLS:C1333284|NCIT:C5128 A astrocytoma that involves the diencephalon. UMLS:C1333284|DOID:4855|NCIT:C5128 http://purl.obolibrary.org/obo/MONDO_0003169 astrocytoma of the diencephalon|diencephalon astrocytoma (excluding glioblastoma)|diencephalon astrocytoma|astrocytoma (excluding glioblastoma) of diencephalon|diencephalic astrocytoma|astrocytoma of diencephalon MONDO:0054716 microcephaly 19, primary, autosomal recessive biolink:Disease mondo UMLS:C4540488|OMIM:617800|DOID:0070281 DOID:0070281|http://identifiers.org/omim/617800|UMLS:C4540488 http://purl.obolibrary.org/obo/MONDO_0054716 MCPH19|microcephaly 19, PRIMARY, autosomal recessive; MCPH19|primary autosomal recessive microcephaly 19 MONDO:0003164 cauda equina neoplasm biolink:Disease mondo NCIT:C5479|SCTID:126963001|UMLS:C1263892|DOID:4847 A neoplasm involving a cauda equina. SNOMEDCT:126963001|DOID:4847|UMLS:C1263892|NCIT:C5479 http://purl.obolibrary.org/obo/MONDO_0003164 tumor of the Cauda equina|Cauda equina neoplasms|neoplasm of cauda equina|cauda equina neoplasm (disease)|cauda equina tumor|tumor of Cauda equina|tumor of cauda equina|neoplasm of the Cauda equina MONDO:0003165 cerebellar astrocytoma biolink:Disease mondo UMLS:C0740480|NCIT:C9475|DOID:4848 Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative. NCIT:C9475|UMLS:C0740480|DOID:4848 http://purl.obolibrary.org/obo/MONDO_0003165 cerebellum astrocytoma (excluding glioblastoma)|astrocytoma of cerebellum|astrocytoma, cerebellar|cerebellar astrocytoma|astrocytoma of the cerebellum|cerebellum astrocytoma|astrocytoma (excluding glioblastoma) of cerebellum MONDO:0003166 obsolete pilocytic astrocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003166 MONDO:0003167 obsolete pleomorphic xanthoastrocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003167 MONDO:0003160 obsolete sebaceous carcinoma biolink:Disease mondo An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. http://purl.obolibrary.org/obo/MONDO_0003160 MONDO:0003161 obsolete benign ependymoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003161 MONDO:0003162 obsolete pilomyxoid astrocytoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003162 MONDO:0003163 cauda equina intradural extramedullary astrocytoma biolink:Disease mondo UMLS:C1334254|NCIT:C5408|DOID:4846 DOID:4846|NCIT:C5408|UMLS:C1334254 http://purl.obolibrary.org/obo/MONDO_0003163 intradural extramedullary astrocytic tumor of the Cauda equina|intradural extramedullary astrocytoma of Cauda equina|intradural extramedullary astrocytoma of the Cauda equina|intradural extramedullary Cauda equina astrocytoma MONDO:0042726 macrogyria, pseudobulbar palsy and mental retardation biolink:Disease mondo UMLS:C2931598|MESH:C537722|GARD:0000174 MESH:C537722|UMLS:C2931598 http://purl.obolibrary.org/obo/MONDO_0042726 Kuzniecky Andermann syndrome gard_rare MONDO:0042727 sacrococcygeal teratoma biolink:Disease mondo GARD:0000319|HP:0030736|UMLS:C0559459|SCTID:281561000|Orphanet:494421|NCIT:C99055 A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. SNOMEDCT:281561000|ORPHA:494421|NCIT:C99055|UMLS:C0559459 http://purl.obolibrary.org/obo/MONDO_0042727 pre-sacral teratoma|sacrococcygeal teratoma|presacral teratoma gard_rare MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability biolink:Disease mondo UMLS:CN228396|Orphanet:102283 ORPHA:102283|UMLS:CN228396 http://purl.obolibrary.org/obo/MONDO_0015159 MCA/MR|multiple congenital anomalies-intellectual disability with or without dysmorphism ordo_group_of_disorders MONDO:0015158 unexplained periodic fever syndrome biolink:Disease mondo UMLS:CN197498|Orphanet:102237|ICD10:E85.0 ORPHA:102237|UMLS:CN197498 http://purl.obolibrary.org/obo/MONDO_0015158 ordo_group_of_disorders SO:0001508 alteration_attribute biolink:SequenceFeature mondo An attribute of alteration of one or more chromosomes. http://purl.obolibrary.org/obo/SO_0001508 alteration attribute SO:0001507 variant_collection biolink:SequenceFeature mondo A collection of one or more sequences of an individual. http://purl.obolibrary.org/obo/SO_0001507 variant collection MONDO:0042724 macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations biolink:Disease mondo GARD:0000172 http://purl.obolibrary.org/obo/MONDO_0042724 Volcke Soekarman syndrome gard_rare SO:0001509 chromosomal_variation_attribute biolink:SequenceFeature mondo An attribute of a change in the structure or number of a chromosomes. http://purl.obolibrary.org/obo/SO_0001509 chromosomal variation attribute MONDO:0015153 autosomal monosomy biolink:Disease mondo ICD10:Q93.2|ICD10:Q93.1|ICD10:Q93.0|ICD10:Q93.9|ICD10:Q93.8|Orphanet:102020|ICD10:Q93.7|ICD10:Q93.6|ICD10:Q93.5|ICD10:Q93.4|ICD10:Q93.3 ORPHA:102020 http://purl.obolibrary.org/obo/MONDO_0015153 autosomal deletion ordo_group_of_disorders MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy biolink:Disease mondo UMLS:C2931907|OMIMPS:253600|ICD10:G71.0|MESH:C538640|Orphanet:102015|DOID:0110274 Autosomal recessive form of limb-girdle muscular dystrophy. MESH:C538640|DOID:0110274|ORPHA:102015|UMLS:C2931907 http://purl.obolibrary.org/obo/MONDO_0015152 limb-girdle muscular dystrophy, autosomal recessive|muscular dystrophy, limb-girdle, autosomal recessive ordo_group_of_disorders MONDO:0015151 autosomal dominant limb-girdle muscular dystrophy biolink:Disease mondo ICD10:G71.0|OMIMPS:159000|OMIMPS:603511|UMLS:CN043626|UMLS:CN228919|Orphanet:102014|DOID:0110273 Autosomal dominant form of limb-girdle muscular dystrophy. UMLS:CN043626|DOID:0110273|ORPHA:102014|UMLS:CN228919 http://purl.obolibrary.org/obo/MONDO_0015151 muscular dystrophy, limb-girdle, autosomal dominant|limb-girdle muscular dystrophy, autosomal dominant ordo_group_of_disorders ECTO:0000496 alkylating agent exposure biolink:OntologyClass mondo An exposure to alkylating agent. http://purl.obolibrary.org/obo/ECTO_0000496 exposure to alkylating agent SO:0001506 variant_genome biolink:SequenceFeature mondo A collection of sequences (often chromosomes) of an individual. http://purl.obolibrary.org/obo/SO_0001506 variant genome MONDO:0015150 complex hereditary spastic paraplegia biolink:Disease mondo ICD10:G11.4|UMLS:CN197491|Orphanet:102013|UMLS:C0393556|SCTID:230261006 A hereditary spastic paraplegia that is part of a larger syndrome. SNOMEDCT:230261006|ORPHA:102013|UMLS:CN197491|UMLS:C0393556 http://purl.obolibrary.org/obo/MONDO_0015150 complicated familial spastic paraplegia|complicated HSP|syndrome associated with hereditary spastic paraplegia|Complex SPG|syndromic hereditary spastic paraplegia|Complex familial spastic paraplegia|complicated hereditary spastic paraplegia|syndrome associated with hereditary spastic paraplegia|Complex HSP|complicated SPG ordo_group_of_disorders MONDO:0015157 human herpesvirus 8-related tumor biolink:Disease mondo UMLS:CN226610|Orphanet:102024 UMLS:CN226610|ORPHA:102024 http://purl.obolibrary.org/obo/MONDO_0015157 HHV-8-related disorder ordo_group_of_disorders SO:0001500 heritable_phenotypic_marker biolink:SequenceFeature mondo A biological_region characterized as a single heritable trait in a phenotype screen. The heritable phenotype may be mapped to a chromosome but generally has not been characterized to a specific gene locus. http://purl.obolibrary.org/obo/SO_0001500 phenotypic marker|heritable phenotypic marker MONDO:0015156 obsolete typhus-group rickettsiosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015156 MONDO:0015155 obsolete spotted fever rickettsiosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015155 MONDO:0015154 obsolete rickettsial disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015154 MONDO:0054701 Kleefstra syndrome 2 biolink:Disease mondo OMIM:617768 http://identifiers.org/omim/617768 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2; KLEFS2|KLEFS2 MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 biolink:Disease mondo UMLS:CN252342|OMIM:618048 http://identifiers.org/omim/618048|UMLS:CN252342 http://purl.obolibrary.org/obo/MONDO_0054700 PRAAS2|proteasome-associated autoinflammatory syndrome 2; PRAAS2 MONDO:0003179 obsolete lacrimal gland adenoid cystic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003179 NCBITaxon:10566 Human papillomavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10566 human papillomavirus HPV|Human Papilloma Virus HGNC:30802 PNPLA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30802 HGNC:30800 TMIE biolink:OntologyClass mondo http://identifiers.org/hgnc/30800 MONDO:0003175 salivary gland adenoid cystic carcinoma biolink:Disease mondo DOID:4866|GARD:0012346|NCIT:C8026|UMLS:C0279751|SCTID:422833009 An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver. UMLS:C0279751|NCIT:C8026|DOID:4866|SNOMEDCT:422833009 http://purl.obolibrary.org/obo/MONDO_0003175 cylindroma|salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma (morphologic abnormality)|cylindroma NOS|salivary gland adenoid cystic cancer|adenoid cystic carcinoma|saliva-secreting gland adenoid cystic carcinoma|cylindroma (morphologic abnormality)|adenoid cystic carcinoma of salivary gland|adenoid cystic cancer|adenoid cystic carcinoma of the salivary gland MONDO:0003176 obsolete cervical adenoid cystic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003176 MONDO:0003177 prostate adenoid cystic carcinoma biolink:Disease mondo UMLS:C1335502|NCIT:C5539|DOID:4868 An adenoid cystic carcinoma that arises from the prostate gland. DOID:4868|NCIT:C5539|UMLS:C1335502 http://purl.obolibrary.org/obo/MONDO_0003177 prostate adenoid cystic carcinoma|prostate gland adenoid cystic carcinoma|adenoid cystic carcinoma of prostate|adenoid cystic carcinoma of the prostate MONDO:0054708 retinitis pigmentosa 80 biolink:Disease mondo OMIM:617781 http://identifiers.org/omim/617781 http://purl.obolibrary.org/obo/MONDO_0054708 RP80|RETINITIS pigmentosa 80; RP80 MONDO:0003178 obsolete laryngeal adenoid cystic carcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003178 MONDO:0003171 pineal gland astrocytoma biolink:Disease mondo UMLS:C0280795|DOID:4858|NCIT:C8274 A astrocytoma that involves the pineal body. NCIT:C8274|DOID:4858|UMLS:C0280795 http://purl.obolibrary.org/obo/MONDO_0003171 astrocytoma (excluding glioblastoma) of pineal body|pineal body astrocytoma|astrocytoma of pineal gland|pineal body astrocytoma (excluding glioblastoma)|astrocytoma of the pineal gland|pineal astrocytic tumor|pineal astrocytoma MONDO:0003172 glomeruloid hemangioma biolink:Disease mondo UMLS:C1304511|DOID:486|NCIT:C27505|SCTID:403976007 DOID:486|SNOMEDCT:403976007|NCIT:C27505|UMLS:C1304511 http://purl.obolibrary.org/obo/MONDO_0003172 MONDO:0003173 brain stem astrocytic neoplasm biolink:Disease mondo DOID:4860|UMLS:C1332608|SCTID:107581000119103|NCIT:C7445 An astrocytoma that arises from the brain stem. UMLS:C1332608|DOID:4860|NCIT:C7445|SNOMEDCT:107581000119103 http://purl.obolibrary.org/obo/MONDO_0003173 brainstem astrocytoma|astrocytoma (excluding glioblastoma) of brainstem|brainstem astrocytoma (excluding glioblastoma)|brain stem astrocytoma MONDO:0003174 spinal cord astrocytoma biolink:Disease mondo DOID:4863|SCTID:254948003|NCIT:C4641|UMLS:C0349540|EFO:1000544 A low or high grade astrocytoma that arises in the spinal cord. SNOMEDCT:254948003|DOID:4863|UMLS:C0349540|NCIT:C4641 http://purl.obolibrary.org/obo/MONDO_0003174 spinal cord astrocytoma (excluding glioblastoma)|astrocytoma of the spinal cord|astrocytoma of spinal cord|astrocytoma (excluding glioblastoma) of spinal cord|spinal astrocytoma|spinal cord astrocytoma MONDO:0015149 pure hereditary spastic paraplegia biolink:Disease mondo ICD10:G11.4|UMLS:C0393555|Orphanet:102012|SCTID:230260007 UMLS:C0393555|SNOMEDCT:230260007|ORPHA:102012 http://purl.obolibrary.org/obo/MONDO_0015149 uncomplicated HSP|Pure SPG|Pure familial spastic paraplegia|uncomplicated hereditary spastic paraplegia|Pure HSP|uncomplicated SPG|uncomplicated familial spastic paraplegia ordo_group_of_disorders MONDO:0015148 lissencephaly type 3 biolink:Disease mondo Orphanet:102011|ICD10:Q04.3 ORPHA:102011 http://purl.obolibrary.org/obo/MONDO_0015148 ordo_group_of_disorders MONDO:0003170 gliofibroma biolink:Disease mondo UMLS:C1266178|NCIT:C5419|DOID:4856|ICDO:9442/1 An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma). DOID:4856|NCIT:C5419|UMLS:C1266178 http://purl.obolibrary.org/obo/MONDO_0003170 gliofibroma (morphologic abnormality) MONDO:0015147 other syndrome with lissencephaly as a major feature biolink:Disease mondo UMLS:CN197489|ICD10:Q04.3|Orphanet:102010 ORPHA:102010|UMLS:CN197489 http://purl.obolibrary.org/obo/MONDO_0015147 obsoletion_candidate|ordo_group_of_disorders MONDO:0015142 obsolete ataxia syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015142 MONDO:0015141 disorder of medulla oblongata biolink:Disease mondo UMLS:CN197487|Orphanet:102000 A disease that involves the medulla oblongata. ORPHA:102000|UMLS:CN197487 http://purl.obolibrary.org/obo/MONDO_0015141 medullar disease|medulla oblongata disease|medulla oblongata disease or disorder|disorder of medulla oblongata|disease of medulla oblongata|disease or disorder of medulla oblongata ordo_group_of_disorders MONDO:0015140 early-onset autosomal dominant Alzheimer disease biolink:Disease mondo UMLS:CN043596|ICD10:G30.0|Orphanet:1020|GARD:0012798 Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. ORPHA:1020|UMLS:CN043596 http://purl.obolibrary.org/obo/MONDO_0015140 early-onset, autosomal dominant Alzheimer disease|EOFAD|early-onset familial autosomal dominant Alzheimer disease ordo_disease|clingen|gard_rare MONDO:0015146 classic lissencephaly biolink:Disease mondo Orphanet:102009|GARD:0005049|ICD10:Q04.3 UMLS:C1843916|ORPHA:102009|UMLS:C0431375 http://purl.obolibrary.org/obo/MONDO_0015146 lissencephaly type 1|lissencephaly sequence isolated|lissencephaly classic|ILS ordo_group_of_disorders MONDO:0015145 neurovascular malformation biolink:Disease mondo Orphanet:102006 ORPHA:102006 http://purl.obolibrary.org/obo/MONDO_0015145 ordo_group_of_disorders MONDO:0015144 brain inflammatory disease biolink:Disease mondo UMLS:CN197488|Orphanet:102005 An inflammatory disease involving a pathogenic inflammatory response in the brain. ORPHA:102005|UMLS:CN197488 http://purl.obolibrary.org/obo/MONDO_0015144 inflammation of brain|brain inflammation ordo_group_of_disorders MONDO:0015143 obsolete rare movement disorder biolink:Disease mondo Orphanet:102003 Rare movement disorder. ORPHA:102003 http://purl.obolibrary.org/obo/MONDO_0015143 rare movement disorder ordo_group_of_disorders|obsoletion_candidate MONDO:0005725 cyclosporiasis biolink:Disease mondo ICD10:A07.4|DOID:12750|MESH:D021866|SCTID:240372001|UMLS:C0343398|GARD:0009528|NCIT:C128409|ICD9:007.5|EFO:0007230 A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. SNOMEDCT:240372001|UMLS:C0343398|NCIT:C128409|DOID:12750|MESH:D021866 http://purl.obolibrary.org/obo/MONDO_0005725 Cyclospora infectious disease|Cyclospora caused disease or disorder|Cyclospora infection|Cyclospora disease or disorder MONDO:0005724 cryptococcosis biolink:Disease mondo ICD10:B45|ICD10:B45.3|NCIT:C2967|MESH:D003453|ICD10:B45.2|Orphanet:1546|ICD10:B45.1|SCTID:42386007|ICD10:B45.0|ICD9:117.5|EFO:0007229|GARD:0006218|UMLS:C0010414|COHD:440035|MedDRA:10011490|ICD10:B45.8|ICD10:B45.9|DOID:12053|ICD10:B45.7 An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004 MEDDRA:10011490|NCIT:C2967|ORPHA:1546|SNOMEDCT:42386007|DOID:12053|UMLS:C0010414|MESH:D003453 http://purl.obolibrary.org/obo/MONDO_0005724 Cryptococcus neoformans caused disease or disorder|Busse-Buschke's disease|Cryptococcal infection|torulosis|torula|European cryptococcosis|Cryptococcus neoformans disease or disorder|cryptococcus neoformans infection|Cryptococcus neoformans infectious disease ordo_disease|gard_rare MONDO:0005727 obsolete cystoisosporiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005727 MONDO:0005726 obsolete cysticercosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005726 MONDO:0005721 coxsackievirus infectious disease biolink:Disease mondo MESH:D003384|EFO:0007226|UMLS:C0010246 A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis. UMLS:C0010246|MESH:D003384 http://purl.obolibrary.org/obo/MONDO_0005721 MONDO:0005720 cowpox biolink:Disease mondo DOID:8956|SCTID:70090004|EFO:0007225|ICD10:B08.010|UMLS:C0010232|MESH:D015605|ICD9:051.01 A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal. UMLS:C0010232|SNOMEDCT:70090004|DOID:8956|MESH:D015605 http://purl.obolibrary.org/obo/MONDO_0005720 yaba MONDO:0005723 Cryptococcal meningitis biolink:Disease mondo DOID:0080159|EFO:0007228|MESH:D016919|SCTID:14232007|COHD:432310|ICD9:321.0 Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2) DOID:0080159|SNOMEDCT:14232007|MESH:D016919 http://purl.obolibrary.org/obo/MONDO_0005723 Cryptococcus neoformans caused infectious meningitis|Cryptococcus neoformans infectious meningitis MONDO:0005722 croup biolink:Disease mondo COHD:260134|SCTID:71186008|NCIT:C26735|UMLS:C0010380|MESH:D003440|EFO:0007227|ICD9:464.4|ICD10:J05.0|DOID:9395 Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. SNOMEDCT:71186008|UMLS:C0010380|DOID:9395|NCIT:C26735|MESH:D003440 http://purl.obolibrary.org/obo/MONDO_0005722 acute obstructive laryngitis|acute laryngotracheitis|croup syndrome|acute laryngotracheobronchitis|acute laryngotracheobronchitis GO:1902931 negative regulation of alcohol biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of alcohol biosynthetic process. http://purl.obolibrary.org/obo/GO_1902931 downregulation of alcohol formation|down-regulation of alcohol anabolism|negative regulation of alcohol anabolism|negative regulation of solventogenesis|down regulation of alcohol anabolism|down-regulation of alcohol synthesis|negative regulation of alcohol synthesis|downregulation of alcohol biosynthesis|downregulation of alcohol biosynthetic process|inhibition of alcohol anabolism|downregulation of alcohol anabolism|down regulation of alcohol synthesis|negative regulation of alcohol formation|down-regulation of alcohol formation|down regulation of alcohol biosynthesis|down regulation of alcohol biosynthetic process|inhibition of alcohol biosynthesis|inhibition of alcohol biosynthetic process|down regulation of alcohol formation|inhibition of alcohol synthesis|downregulation of alcohol synthesis|negative regulation of alcohol biosynthesis|down-regulation of alcohol biosynthetic process|down-regulation of alcohol biosynthesis|inhibition of alcohol formation GO:1902932 positive regulation of alcohol biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of alcohol biosynthetic process. http://purl.obolibrary.org/obo/GO_1902932 up-regulation of alcohol formation|up regulation of alcohol synthesis|positive regulation of solventogenesis|upregulation of alcohol anabolism|positive regulation of alcohol synthesis|positive regulation of alcohol biosynthesis|activation of alcohol synthesis|up regulation of alcohol formation|up regulation of alcohol biosynthetic process|up regulation of alcohol biosynthesis|positive regulation of alcohol formation|activation of alcohol formation|upregulation of alcohol synthesis|up-regulation of alcohol biosynthetic process|up-regulation of alcohol biosynthesis|activation of alcohol biosynthesis|activation of alcohol biosynthetic process|upregulation of alcohol formation|up-regulation of alcohol anabolism|up regulation of alcohol anabolism|up-regulation of alcohol synthesis|positive regulation of alcohol anabolism|upregulation of alcohol biosynthetic process|upregulation of alcohol biosynthesis|activation of alcohol anabolism GO:1902930 regulation of alcohol biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of alcohol biosynthetic process. http://purl.obolibrary.org/obo/GO_1902930 regulation of alcohol anabolism|regulation of alcohol biosynthesis|regulation of solventogenesis|regulation of alcohol synthesis|regulation of alcohol formation MONDO:0017707 obsolete disorder of lipid metabolism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017707 MONDO:0017708 mevalonate kinase deficiency biolink:Disease mondo Orphanet:309025|MedDRA:10072221 UMLS:C0342731|ORPHA:309025|MEDDRA:10072221 http://purl.obolibrary.org/obo/MONDO_0017708 ordo_group_of_disorders MONDO:0017709 disorder of lipid absorption and transport biolink:Disease mondo Orphanet:309028|UMLS:CN227181 UMLS:CN227181|ORPHA:309028 http://purl.obolibrary.org/obo/MONDO_0017709 ordo_group_of_disorders MONDO:0017714 acyl-CoA dehydrogenase deficiency biolink:Disease mondo Orphanet:309120|UMLS:C0268635|SCTID:82319005|ICD10:E71.3 SNOMEDCT:82319005|ORPHA:309120|UMLS:C0268635 http://purl.obolibrary.org/obo/MONDO_0017714 ordo_group_of_disorders CL:0002022 Ly-76 high positive erythrocyte biolink:Cell mondo An enucleate erythrocyte that is Lyg-76-high. http://purl.obolibrary.org/obo/CL_0002022 MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency biolink:Disease mondo ICD10:E71.3|OMIM:231530|Orphanet:309127 http://identifiers.org/omim/231530|ORPHA:309127|UMLS:C1291230 http://purl.obolibrary.org/obo/MONDO_0017715 ordo_group_of_disorders MONDO:0017716 disorder of carnitine cycle and carnitine transport biolink:Disease mondo Orphanet:309130|UMLS:CN227184|ICD10:E71.3 UMLS:CN227184|ORPHA:309130 http://purl.obolibrary.org/obo/MONDO_0017716 ordo_group_of_disorders CL:0002024 Kit-positive megakaryocyte progenitor cell biolink:Cell mondo A megakaryocyte progenitor cell that is Kit-positive, CD41-positive, CD9-positive, Sca-1-negative, IL7ralpha-negative, CD150-negative, and Fcgamma receptor II/III-low. http://purl.obolibrary.org/obo/CL_0002024 MONDO:0017717 metabolic disease due to other fatty acid oxidation disorder biolink:Disease mondo ICD10:E71.3|UMLS:CN203613|Orphanet:309133 UMLS:CN203613|ORPHA:309133 http://purl.obolibrary.org/obo/MONDO_0017717 ordo_group_of_disorders MONDO:0017710 congenital systemic veins anomaly biolink:Disease mondo Orphanet:3091 ORPHA:3091 http://purl.obolibrary.org/obo/MONDO_0017710 ordo_group_of_disorders CL:0002027 CD9-positive, CD41-positive megakaryocyte cell biolink:Cell mondo A megakaryocyte cell with is CD9-positive and CD41-positive. http://purl.obolibrary.org/obo/CL_0002027 MONDO:0017711 pancreatic colipase deficiency biolink:Disease mondo ICD9:277.89|UMLS:C0268241|ICD10:K90.3|Orphanet:309108|SCTID:69478001 SNOMEDCT:69478001|ORPHA:309108|UMLS:C0268241 http://purl.obolibrary.org/obo/MONDO_0017711 ordo_disease GO:0071407 cellular response to organic cyclic compound biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://purl.obolibrary.org/obo/GO_0071407 cellular response to organic cyclic substance MONDO:0017712 combined pancreatic lipase-colipase deficiency biolink:Disease mondo Orphanet:309111|ICD10:K90.3 "Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. ORPHA:309111 http://purl.obolibrary.org/obo/MONDO_0017712 ordo_disease CL:0002029 Fc-epsilon RIalpha-low mast cell progenitor biolink:Cell mondo A lineage-negative, Kit-positive, CD45-positive mast cell progenitor that is Fc-epsilon RIalpha-low. http://purl.obolibrary.org/obo/CL_0002029 CL:0002028 basophil mast progenitor cell biolink:Cell mondo A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa http://purl.obolibrary.org/obo/CL_0002028 BMCP MONDO:0017713 disorder of fatty acid oxidation and ketogenesis biolink:Disease mondo ICD10:E71.3|Orphanet:309115|UMLS:CN227183 ORPHA:309115|UMLS:CN227183 http://purl.obolibrary.org/obo/MONDO_0017713 ordo_group_of_disorders HGNC:17820 NT5C3A biolink:OntologyClass mondo http://identifiers.org/hgnc/17820 MONDO:0005718 Coronaviridae infectious disease biolink:Disease mondo UMLS:C0010078|EFO:0007223 Virus diseases caused by coronaviridae. UMLS:C0010078 http://purl.obolibrary.org/obo/MONDO_0005718 MONDO:0005717 contagious pustular dermatitis biolink:Disease mondo MESH:D004474|DOID:8771|ICD9:051.2|ICD10:B08.02|UMLS:C0013570|EFO:0007222|SCTID:74050005 An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans. MESH:D004474|DOID:8771|SNOMEDCT:74050005|UMLS:C0013570 http://purl.obolibrary.org/obo/MONDO_0005717 Orf|ecthyma contagiosum|scabby mouth|thistle disease|ecthyma, Contagious|sheep pox SO:0001524 chromosomally_aberrant_genome biolink:SequenceFeature mondo When a genome contains an abnormal amount of chromosomes. http://purl.obolibrary.org/obo/SO_0001524 chromosomally aberrant genome CL:0002021 GlyA-positive erythrocyte biolink:Cell mondo An enucleate erythrocyte that is GlyA-positive. http://purl.obolibrary.org/obo/CL_0002021 CL:0002020 GlyA-positive reticulocytes biolink:Cell mondo A reticulocyte that is GlyA-positive. http://purl.obolibrary.org/obo/CL_0002020 MONDO:0005719 Coronavinae infectious disease biolink:Disease mondo MESH:D018352|EFO:0007224 Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine). MESH:D018352 http://purl.obolibrary.org/obo/MONDO_0005719 MONDO:0005736 eastern equine encephalitis biolink:Disease mondo GARD:0010821|MedDRA:10014587|Orphanet:83594|ICD10:A83.2|DOID:10841|EFO:0007242|ICD9:062.2|MESH:D020242|UMLS:C0153065 Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality. ORPHA:83594|UMLS:C0153065|MEDDRA:10014587|MESH:D020242|DOID:10841 http://purl.obolibrary.org/obo/MONDO_0005736 Neuroinvasive Eastern equine encephalitis virus infection|EEE|Eastern equine encephalomyelitis gard_rare|ordo_disease MONDO:0005735 obsolete dracunculiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005735 MONDO:0005738 echinococcosis biolink:Disease mondo ICD9:122|ICD9:122.9|MESH:D004443|SCTID:74942003|ICD10:B67.90|ICD10:B67|UMLS:C0013502|DOID:1496|COHD:440043|EFO:0007245|NCIT:C84682 A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock. SNOMEDCT:74942003|UMLS:C0013502|DOID:1496|MESH:D004443|NCIT:C84682 http://purl.obolibrary.org/obo/MONDO_0005738 echinococciasis|echinococcosis, unspecified, of liver|Echinococcus disease or disorder|hydatidosis|echinococcus disease|liver echinococcus|echinococcosis of liver|hydatid disease|hepatic echinococcosis|hydatidosis|Echinococcus infectious disease|pulmonary echinococcosis|echinococcosis|Echinococcus caused disease or disorder|hydatid disease|echinococcal disease NCBITaxon:600669 Nakaseomyces/Candida clade organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_600669 CHEBI:25741 oxide biolink:ChemicalSubstance mondo An oxide is a chemical compound of oxygen with other chemical elements. http://purl.obolibrary.org/obo/CHEBI_25741 oxide|oxides MONDO:0005737 Ebola hemorrhagic fever biolink:Disease mondo NCIT:C36171|UMLS:C0282687|DOID:4325|Orphanet:319218|MedDRA:10014071|EFO:0007243|SCTID:37109004|GARD:0002035|MESH:D019142|ICD10:A98.4 A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate. DOID:4325|UMLS:C0282687|MESH:D019142|MEDDRA:10014071|ORPHA:319218|SNOMEDCT:37109004|NCIT:C36171 http://purl.obolibrary.org/obo/MONDO_0005737 Ebola virus disease|Ebolavirus infectious disease|Ebolavirus disease or disorder|Ebolavirus caused disease or disorder|EHF|Ebola fever|Ebola ordo_disease MONDO:0005732 obsolete diphyllobothriasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005732 HGNC:29812 DCPS biolink:OntologyClass mondo http://identifiers.org/hgnc/29812 MONDO:0005731 dipetalonemiasis biolink:Disease mondo GARD:0000004|SCTID:15629006|UMLS:C0012517|NCIT:C34540|EFO:0007237|MESH:D004154|DOID:14422|ICD9:125.4 A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids. NCIT:C34540|DOID:14422|UMLS:C0012517|MESH:D004154|SNOMEDCT:15629006 http://purl.obolibrary.org/obo/MONDO_0005731 Mansonella perstans infectious disease|Acanthocheilonema perstans infection|Mansonella perstans caused disease or disorder|Acanthocheilonemiasis|Mansonella perstans disease or disorder|infection by Dipetalonema perstans|Mansonella perstans|infection by Dipetalonema perstans (disorder) [ambiguous]|Dipetalonema infections|infection by Dipetalonema|dipetalonemiasis|Dipetalonema infectious disease|Dipetalonema infection gard_rare MONDO:0005734 dourine biolink:Disease mondo UMLS:C0013076|MESH:D004313|SCTID:15566009|EFO:0007240 A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia. UMLS:C0013076|MESH:D004313|SNOMEDCT:15566009 http://purl.obolibrary.org/obo/MONDO_0005734 MONDO:0005733 obsolete dirofilariasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005733 MONDO:0005730 Dictyocaulus infectious disease biolink:Disease mondo MESH:D004022|EFO:0007235|UMLS:C0012118 Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation. UMLS:C0012118|MESH:D004022 http://purl.obolibrary.org/obo/MONDO_0005730 infection, Dictyocaulus|Dictyocauliasis|infections, Dictyocaulus|Dictyocaulus infection|Dictyocaulus disease or disorder|Dictyocaulus caused disease or disorder|Dictyocauliases MONDO:0017703 disorder of glyoxylate metabolism biolink:Disease mondo Orphanet:308998|UMLS:CN227177 UMLS:CN227177|ORPHA:308998 http://purl.obolibrary.org/obo/MONDO_0017703 ordo_group_of_disorders CL:0002034 long term hematopoietic stem cell biolink:Cell mondo A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative. http://purl.obolibrary.org/obo/CL_0002034 LT-HSC|LT stem cell CL:0002033 short term hematopoietic stem cell biolink:Cell mondo A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative. http://purl.obolibrary.org/obo/CL_0002033 ST-HSC|ST stem cell MONDO:0017704 familial partial epilepsy biolink:Disease mondo ICD10:G40.1|Orphanet:309|UMLS:CN227178|GARD:0002173 An instance of partial epilepsy that is caused by an inherited modification of the individual's genome. UMLS:CN227178|ORPHA:309 http://purl.obolibrary.org/obo/MONDO_0017704 hereditary partial epilepsy|epilepsy, partial, familial ordo_group_of_disorders|gard_rare CL:0002036 Slamf1-positive multipotent progenitor cell biolink:Cell mondo A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive. http://purl.obolibrary.org/obo/CL_0002036 KSL cell MONDO:0017705 congenital pulmonary venous return anomaly biolink:Disease mondo Orphanet:3090|GARD:0004599|ICD10:Q26.4|ICD10:Q26.3|ICD10:Q26.2 Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous. ORPHA:3090 http://purl.obolibrary.org/obo/MONDO_0017705 TAPVR|anomalous pulmonary venous return|congenital pulmonary venous connection anomaly|APVR|pulmonary venous return anomaly|scimitar anomaly|scimitar syndrome|TAPVR1|total anomalous pulmonary venous return gard_rare|ordo_group_of_disorders HGNC:9117 PMP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9117 CL:0002035 Slamf1-negative multipotent progenitor cell biolink:Cell mondo A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative. http://purl.obolibrary.org/obo/CL_0002035 HGNC:9118 PMP22 biolink:OntologyClass mondo http://identifiers.org/hgnc/9118 MONDO:0017706 disorder of carbohydrate absorption and transport biolink:Disease mondo UMLS:CN227180|Orphanet:309001 UMLS:CN227180|ORPHA:309001 http://purl.obolibrary.org/obo/MONDO_0017706 ordo_group_of_disorders MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form biolink:Disease mondo UMLS:C1856305|ICD10:E74.0|Orphanet:308698 UMLS:C1856305|ORPHA:308698 http://purl.obolibrary.org/obo/MONDO_0017700 glycogen storage disease type IV, childhood neuromuscular form|GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogen storage disease type 4, childhood neuromuscular form|GSD type 4, childhood neuromuscular form|GSDIV, childhood neuromuscular form|glycogenosis type IV, childhood neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogenosis type 4, childhood neuromuscular form|GBE deficiency, childhood neuromuscular form ordo_clinical_subtype MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form biolink:Disease mondo UMLS:CN203601|ICD10:E74.0|Orphanet:308712 ORPHA:308712|UMLS:CN203601 http://purl.obolibrary.org/obo/MONDO_0017701 glycogenosis type 4, adult neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form|GBE deficiency, adult neuromuscular form|GSD due to glycogen branching enzyme deficiency, adult neuromuscular form|glycogen storage disease type IV, adult neuromuscular form|glycogen storage disease type 4, adult neuromuscular form|GSD type 4, adult neuromuscular form|GSDIV, adult neuromuscular form|glycogenosis type IV, adult neuromuscular form ordo_clinical_subtype MONDO:0017702 obsolete glycerol kinase deficiency biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017702 MONDO:0005729 dicrocoeliasis biolink:Disease mondo DOID:1219|MESH:D004011|SCTID:105668007|UMLS:C0012102|EFO:0007234|ICD10:B66.2|ICD9:121.8|UMLS:C1737210 Infection with flukes of the genus Dicrocoelium. SNOMEDCT:105668007|UMLS:C1737210|UMLS:C0012102|DOID:1219|MESH:D004011 http://purl.obolibrary.org/obo/MONDO_0005729 disease due to Dicrocoeliidae|Dicrocoelium infectious disease|Dicrocoelium caused disease or disorder|Dicrocoelium disease or disorder HGNC:9115 PMM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9115 CL:0002030 Fc-epsilon RIalpha-high basophil progenitor cell biolink:Cell mondo A lineage negative, Sca1-negative basophil progenitor cell that is Fc epsilon RIalpha-high. http://purl.obolibrary.org/obo/CL_0002030 MONDO:0005728 diaphragm disease biolink:Disease mondo DOID:10481|SCTID:48475001|ICD9:519.4|UMLS:C0152097|EFO:0007233|ICD10:J98.6 A disease involving the diaphragm. SNOMEDCT:48475001|UMLS:C0152097|DOID:10481 http://purl.obolibrary.org/obo/MONDO_0005728 disease or disorder of diaphragm|diaphragmatic disorder|disease of diaphragm|diaphragm disease or disorder|disorder of diaphragm|diaphragmatic disease|disorder of diaphragm|diaphragm disease SO:0001510 intrachromosomal biolink:SequenceFeature mondo A change in chromosomes that occurs between two separate chromosomes. http://purl.obolibrary.org/obo/SO_0001510 CL:0002032 hematopoietic oligopotent progenitor cell biolink:Cell mondo A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. http://purl.obolibrary.org/obo/CL_0002032 CL:0002031 hematopoietic lineage restricted progenitor cell biolink:Cell mondo A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. http://purl.obolibrary.org/obo/CL_0002031 MONDO:0030703 autoimmune vasculitis biolink:Disease mondo SCTID:427213005|DOID:0040097|UMLS:C1328843 An autoimmune form of vasculitis. DOID:0040097|SNOMEDCT:427213005|UMLS:C1328843 http://purl.obolibrary.org/obo/MONDO_0030703 MONDO:0005703 obsolete Churg-Strauss syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005703 CHEBI:25710 organophosphorus compound biolink:ChemicalSubstance mondo An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters. http://purl.obolibrary.org/obo/CHEBI_25710 organophosphorus compound|organophosphorus compounds MONDO:0030702 autoimmune atherosclerosis biolink:Disease mondo DOID:0040096 An autoimmune form of atherosclerosis. DOID:0040096 http://purl.obolibrary.org/obo/MONDO_0030702 MONDO:0005702 obsolete chromoblastomycosis biolink:Disease mondo A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. http://purl.obolibrary.org/obo/MONDO_0005702 MONDO:0005705 clonorchiasis biolink:Disease mondo EFO:0007210|MESH:D003003|ICD10:B66.1|ICD9:121.1|SCTID:11938002|UMLS:C0009021|COHD:194280|DOID:13767 Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed) MESH:D003003|SNOMEDCT:11938002|UMLS:C0009021|DOID:13767 http://purl.obolibrary.org/obo/MONDO_0005705 Oriental liver fluke disease MONDO:0030705 Trichomonas prostatitis biolink:Disease mondo ICD9:131.03|UMLS:C0153315|SCTID:71590000|NCIT:C35176 Infection of the prostate gland caused by Trichomonas vaginalis. UMLS:C0153315|SNOMEDCT:71590000|NCIT:C35176 http://purl.obolibrary.org/obo/MONDO_0030705 Trichomonas prostatitis|Trichomonas vaginalis caused prostatitis (disease)|Trichomonas vaginalis prostatitis (disease)|trichomonal prostatitis MONDO:0005704 Ciliophora infectious disease biolink:Disease mondo MESH:D016770|EFO:0007209|UMLS:C0085308 Infections with protozoa of the phylum ciliophora. MESH:D016770|UMLS:C0085308 http://purl.obolibrary.org/obo/MONDO_0005704 Ciliophora disease or disorder|Ciliophora caused disease or disorder MONDO:0005701 chlamydia trachomatis infectious disease biolink:Disease mondo ICD9:079.98|COHD:438066|ICD9:078.88|ICD9:079.88|NCIT:C34463|EFO:0007205|SCTID:105629000|DOID:11263 An infection that is caused by Chlamydia trachomatis. NCIT:C34463|SNOMEDCT:105629000|DOID:11263 http://purl.obolibrary.org/obo/MONDO_0005701 Chlamydia trachomatis infectious disease|Chlamydia trachomatis disease or disorder|chlamydial disease|chlamydia trachomatis infectious disease|Chlamydia trachomatis caused disease or disorder|chlamydia|Chlamydial infection MONDO:0030701 autoimmune cardiomyopathy biolink:Disease mondo DOID:0040095 An autoimmune form of cardiomyopathy. DOID:0040095 http://purl.obolibrary.org/obo/MONDO_0030701 MONDO:0005700 chickenpox biolink:Disease mondo UMLS:C0008049|COHD:434272|SCTID:38907003|DOID:8659|ICD10:B01|ICD9:052|ICD9:052.9|EFO:0007204|MESH:D002644|ICD10:B01.9|NCIT:C97132 A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. DOID:8659|MESH:D002644|UMLS:C0008049|SNOMEDCT:38907003|NCIT:C97132 http://purl.obolibrary.org/obo/MONDO_0005700 chicken pox|Varicella|chickenpox|varicella|chicken pox infection MONDO:0030700 autoimmune glomerulonephritis biolink:Disease mondo DOID:0040094 An autoimmune form of glomerulonephritis (disease). DOID:0040094 http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis (disease) CL:0002009 macrophage dendritic cell progenitor biolink:Cell mondo A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. http://purl.obolibrary.org/obo/CL_0002009 MDP GO:0046467 membrane lipid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthesis|membrane lipid anabolism|membrane lipid synthesis|membrane lipid formation MONDO:0030707 Trichomonas balanoposthitis biolink:Disease mondo UMLS:C0341769|NCIT:C35406 UMLS:C0341769|NCIT:C35406 http://purl.obolibrary.org/obo/MONDO_0030707 Trichomonas balanoposthitis MONDO:0030706 Trichomonas cystitis biolink:Disease mondo ICD9:131.09|UMLS:C0341733|NCIT:C35405|SCTID:197850006 An cystitis caused by infection with Trichomonas vaginalis. UMLS:C0341733|SNOMEDCT:197850006|NCIT:C35405 http://purl.obolibrary.org/obo/MONDO_0030706 cystitis in trichomoniasis|Trichomonas vaginalis cystitis|Trichomonas vaginalis caused cystitis|trichomonal cystitis|Trichomonas cystitis MONDO:0030708 Trichomonas cervicitis biolink:Disease mondo NCIT:C35588 An cervicitis (disease) caused by infection with Trichomonas vaginalis. NCIT:C35588 http://purl.obolibrary.org/obo/MONDO_0030708 Trichomonas cervicitis|Trichomonas vaginalis cervicitis (disease)|Trichomonas vaginalis caused cervicitis (disease) CL:0002001 CD34-positive, CD38-positive granulocyte monocyte progenitor biolink:Cell mondo A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative. http://purl.obolibrary.org/obo/CL_0002001 CL:0002000 Kit-positive erythroid progenitor cell biolink:Cell mondo An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative. http://purl.obolibrary.org/obo/CL_0002000 c- Kit-positive erythroid progenitor cell CL:0002003 CD34-positive, GlyA-negative erythroid progenitor cell biolink:Cell mondo FMA:83517 An erythroid progenitor cell that is CD34-positive and is GlyA-negative. http://purl.obolibrary.org/obo/CL_0002003 CL:0002005 CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell biolink:Cell mondo A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative. http://purl.obolibrary.org/obo/CL_0002005 CL:0002004 CD34-negative, GlyA-negative proerythroblast biolink:Cell mondo A proerythoblast that is CD34-negative and GlyA-negative. http://purl.obolibrary.org/obo/CL_0002004 HGNC:17800 FARSB biolink:OntologyClass mondo http://identifiers.org/hgnc/17800 CL:0002006 Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell biolink:Cell mondo A megakaryocyte erythroid progenitor cell that is Kit-positive and is Sca1-negative, CD34-negative, CD90-negative, IL7r-alpha-negative and Fcgr II/III-low. http://purl.obolibrary.org/obo/CL_0002006 HGNC:9122 PMS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9122 UPHENO:0001001 phenotype biolink:OntologyClass mondo http://purl.obolibrary.org/obo/UPHENO_0001001 HGNC:9121 PMS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9121 NCBITaxon:480418 Mycobacterium lepromatosis organism taxon mondo PMID:19019760|PMID:25831531|GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_480418 MONDO:0005714 congenital syphilis biolink:Disease mondo DOID:9856|MESH:D013590|NCIT:C84649|ICD10:A50.9|Orphanet:499009|EFO:0007219|SCTID:35742006|COHD:434279|ICD9:090.9|ICD9:090|ICD10:A50|UMLS:C0039131 A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. UMLS:C0039131|SNOMEDCT:35742006|MESH:D013590|ORPHA:499009|DOID:9856|NCIT:C84649 http://purl.obolibrary.org/obo/MONDO_0005714 MTCT of syphilis|mother-to-child transmission of syphilis|congenital syphilis ordo_disease MONDO:0005713 congenital rubella biolink:Disease mondo NCIT:C34992|EFO:0007218 A condition, whose clinical manifestations include intrauterine growth restriction, petechial rash, jaundice, generalized lymphadenopathy, hepatosplenomegaly, peripheral pulmonary stenosis, cataracts, and sensorineural deafness, that is caused by fetal exposure to the rubella virus during the first trimester of pregnancy. NCIT:C34992 http://purl.obolibrary.org/obo/MONDO_0005713 congenital rubella|congenital Rubella syndrome MONDO:0005716 contagious pleuropneumonia biolink:Disease mondo EFO:0007221|UMLS:C0032243|MESH:D011002 A pleuropneumonia of cattle and goats caused by species of mycoplasma. UMLS:C0032243|MESH:D011002 http://purl.obolibrary.org/obo/MONDO_0005716 MONDO:0005715 congenital toxoplasmosis biolink:Disease mondo EFO:0007220|DOID:13336|UMLS:C0040560|MedDRA:10010652|ICD9:771.2|MESH:D014125|GARD:0010326|Orphanet:858|ICD10:P37.1|SCTID:73893000|NCIT:C50503 Toxoplasma infection that is present from birth. SNOMEDCT:73893000|MESH:D014125|MEDDRA:10010652|NCIT:C50503|DOID:13336|ORPHA:858|UMLS:C0040560 http://purl.obolibrary.org/obo/MONDO_0005715 congenital toxoplasmosis|Toxoplasma embryopathy|toxoplasmosis, congenital|mother-to-child transmission of toxoplasmosis|Toxoplasma embryofetopathy|toxoplasmosis - congen. ordo_disease MONDO:0005710 composite lymphoma biolink:Disease mondo UMLS:C0545080|Orphanet:168966|DOID:5820|ICDO:9596/3|NCIT:C38661|MESH:D058617|UMLS:C1266191|EFO:0007215 Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site. UMLS:C1266191|DOID:5820|UMLS:C0545080|NCIT:C38661|MESH:D058617|ORPHA:168966 http://purl.obolibrary.org/obo/MONDO_0005710 composite lymphoma|composite Hodgkin and non-Hodgkin lymphoma ordo_disease MONDO:0005712 congenital nystagmus biolink:Disease mondo DOID:9649|SCTID:64635004|HP:0000639|MESH:D020417|COHD:373489|OMIMPS:310700|ICD9:379.51|EFO:0007217|DC:0000328|ICD10:H55.01 Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275) DOID:9649|SNOMEDCT:64635004|MESH:D020417 http://purl.obolibrary.org/obo/MONDO_0005712 congenital pathologic nystagmus|nystagmus, congenital|nystagmus MONDO:0005711 congenital diaphragmatic hernia biolink:Disease mondo Orphanet:2140|NCIT:C98893|ICD10:Q79.0|EFO:0007216|ICD10:K44|MedDRA:10010439|GARD:0001481|UMLS:C0235833|DOID:3827|COHD:4066010|ICD10:K44.9 Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality. MESH:C538080|ORPHA:2140|MEDDRA:10010439|UMLS:C0235833|DOID:3827|NCIT:C98893 http://purl.obolibrary.org/obo/MONDO_0005711 agenesis of hemidiaphragm|unilateral agenesis of diaphragm|CDH|diaphragmatic hernia|congenital diaphragmatic defect ordo_morphological_anomaly CL:0002019 Ly-76 high reticulocyte biolink:Cell mondo A reticulocyte that is Ly76-high and is Kit-negative. http://purl.obolibrary.org/obo/CL_0002019 GO:0046474 glycerophospholipid biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/GO_0046474 glycerophospholipid formation|glycerophospholipid biosynthesis|glycerophospholipid anabolism|glycerophospholipid synthesis|phosphoglyceride biosynthesis|phosphoglyceride biosynthetic process CL:0002012 Kit-low proerythroblast biolink:Cell mondo A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive. http://purl.obolibrary.org/obo/CL_0002012 CL:0002014 Kit-negative, Ly-76 high basophilic erythroblast biolink:Cell mondo A basophilic erythroblast that is Lyg 76-high and is Kit-negative. http://purl.obolibrary.org/obo/CL_0002014 CL:0002013 GlyA-positive basophillic erythroblast biolink:Cell mondo A basophilic erythroblast that is GlyA-positive. http://purl.obolibrary.org/obo/CL_0002013 CL:0002016 CD71-low, GlyA-positive polychromatic erythroblast biolink:Cell mondo A polychromatiic erythroblast that is Gly-A-positive and CD71-low. http://purl.obolibrary.org/obo/CL_0002016 CL:0002015 Kit-negative, Ly-76 high polychromatophilic erythroblast biolink:Cell mondo A polychromatophilic erythroblast that is Lyg 76-high and is Kit-negative. http://purl.obolibrary.org/obo/CL_0002015 late basophilic and polychromatophilic erythroblast CL:0002018 CD71-negative, GlyA-positive orthochromatic erythroblast biolink:Cell mondo An erythroblast that is GlyA-positive and CD71-negative. http://purl.obolibrary.org/obo/CL_0002018 GO:0071417 cellular response to organonitrogen compound biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/GO_0071417 cellular response to organic nitrogen CL:0002017 Kit-negative, Ly-76 high orthochromatophilic erythroblasts biolink:Cell mondo An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative. http://purl.obolibrary.org/obo/CL_0002017 MONDO:0005707 coccidiosis biolink:Disease mondo EFO:0007212|SCTID:62005008|UMLS:C0009187|NCIT:C34493|MESH:D003048|ICD9:007.2|DOID:2113|COHD:433401 A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting. MESH:D003048|UMLS:C0009187|NCIT:C34493|SNOMEDCT:62005008|DOID:2113 http://purl.obolibrary.org/obo/MONDO_0005707 coccidiosis (& [intestinal])|intestinal coccidiosis MONDO:0005706 coccidioidomycosis biolink:Disease mondo SCTID:23247008|EFO:0007211|ICD10:B38|UMLS:C0009186|Orphanet:228123|ICD10:B38.8|ICD10:B38.9|ICD10:B38.7|MedDRA:10009825|ICD9:114|UMLS:C0700644|DOID:13450|ICD10:B38.4|NCIT:C84642|ICD10:B38.3|ICD10:B38.2|ICD10:B38.1|MESH:D003047|ICD9:114.9|ICD10:B38.0|UMLS:CN201384|COHD:437217|GARD:0009525|ICD9:114.1 A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease. MESH:D003047|NCIT:C84642|ORPHA:228123|MEDDRA:10009825|UMLS:C0700644|UMLS:CN201384|UMLS:C0009186|SNOMEDCT:23247008|DOID:13450 http://purl.obolibrary.org/obo/MONDO_0005706 California disease|desert rheumatism|Valley fever|primary extrapulmonary coccidioidomycosis|San Joaquin valley fever|Coccidioides immitis infectious disease|Coccidioides immitis caused disease or disorder|desert fever|Coccidioides immitis disease or disorder|Coccidioides infection ordo_disease CHEBI:589779 piperidinium biolink:ChemicalSubstance mondo The conjugate acid of piperidine; major species at pH 7.3. http://purl.obolibrary.org/obo/CHEBI_589779 piperidine|piperidinium|piperidinium cation|piperidinium(1+)|hexahydropyridinium MONDO:0005709 common cold biolink:Disease mondo NCIT:C34500|COHD:260427|MESH:D003139|ICD10:J00|ICD9:460|UMLS:C0009443|DOID:10459|SCTID:82272006|EFO:0007214 An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain. MESH:D003139|DOID:10459|UMLS:C0009443|NCIT:C34500|SNOMEDCT:82272006 http://purl.obolibrary.org/obo/MONDO_0005709 nasopharyngitis, acute|acute viral rhinopharyngitis|acute rhinitis|acute nasopharyngitis|acute nasopharyngitis [common cold]|acute coryza|rhino-sinusitis|nasopharyngitis - acute MONDO:0005708 Colorado tick fever biolink:Disease mondo ICD10:A93.2|UMLS:C0009400|ICD9:066.1|SCTID:6452009|MedDRA:10010022|MESH:D003121|DOID:4885|Orphanet:83595|EFO:0007213 A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni. MESH:D003121|MEDDRA:10010022|UMLS:C0009400|DOID:4885|SNOMEDCT:6452009|ORPHA:83595 http://purl.obolibrary.org/obo/MONDO_0005708 Mountain tick fever|Colorado tick fever virus infectious disease|American mountain fever|Mountain fever|Colorado tick fever virus caused disease or disorder|Colorado tick encephalitis|Colorado tick fever virus disease or disorder|Colorado tick-borne disease|Tick fever, American mountain ordo_disease MONDO:0005769 geniculate herpes zoster biolink:Disease mondo DOID:9210|UMLS:C0458220|ICD9:351.8|UMLS:C0017409|NCIT:C84763|EFO:0007281|SCTID:95670000|ICD9:053.11|ICD10:B02.21 A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption. UMLS:C0458220|SNOMEDCT:95670000|DOID:9210|UMLS:C0017409|NCIT:C84763 http://purl.obolibrary.org/obo/MONDO_0005769 Ramsey Hunt syndrome|Herpes zoster auricularis|Ramsay Hunt syndrome type II|Herpes Zoster Oticus|geniculate neuralgia|Ramsay Hunt syndrome type 2|herpetic geniculate ganglionitis|nervus intermedius neuralgia MONDO:0003106 obsolete verrucous keratotic hemangioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003106 MONDO:0005768 gastrointestinal tuberculosis biolink:Disease mondo ICD9:014.86|UMLS:C0041312|ICD9:014.81|ICD9:014.80|MESH:D014385|COHD:196019|DOID:404|SCTID:186225008|UMLS:C0152717|EFO:0007280 Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area. UMLS:C0041312|SNOMEDCT:186225008|MESH:D014385|UMLS:C0152717|DOID:404 http://purl.obolibrary.org/obo/MONDO_0005768 tuberculosis of intestines, peritoneum and mesenteric glands|tuberculosis of gastrointestinal tract|tuberculosis of intestines, peritoneum, and mesenteric glands MONDO:0003107 infratentorial cancer biolink:Disease mondo ICD10:C71.7|UMLS:C0751593|DOID:4706|NCIT:C4966|MESH:D015192 Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces. DOID:4706|UMLS:C0751593|MESH:D015192|NCIT:C4966 http://purl.obolibrary.org/obo/MONDO_0003107 malignant infratentorial neoplasm|malignant infratentorial tumor|brain neoplasm, infratentorial|infratentorial neoplasms, malignant|malignant infratentorial tumors GO:0046483 heterocycle metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolism MONDO:0003108 cervicomedullary junction neoplasm biolink:Disease mondo NCIT:C5423|UMLS:C1332923|DOID:4707 UMLS:C1332923|DOID:4707|NCIT:C5423 http://purl.obolibrary.org/obo/MONDO_0003108 neoplasm of the cervicomedullary junction|neoplasm of cervicomedullary junction|tumor of the cervicomedullary junction|cervicomedullary junction tumor|cervicomedullary junction neoplasms|tumor of cervicomedullary junction MONDO:0003109 foramen magnum meningioma biolink:Disease mondo UMLS:C1333630|DOID:4708|NCIT:C5280 A meningioma that affects the foramen magnum. DOID:4708|NCIT:C5280|UMLS:C1333630 http://purl.obolibrary.org/obo/MONDO_0003109 meningioma of the Foramen magnum|foramen magnum meningioma (disease)|meningioma (disease) of foramen magnum|meningioma of Foramen magnum MONDO:0005765 foot and mouth disease biolink:Disease mondo EFO:0007277|UMLS:C0016514|MESH:D005536 A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness. MESH:D005536|UMLS:C0016514 http://purl.obolibrary.org/obo/MONDO_0005765 MONDO:0003102 obsolete perineurioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003102 MONDO:0003103 nerve root neoplasm biolink:Disease mondo DOID:4698|UMLS:C1334946|NCIT:C5119 Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression. DOID:4698|NCIT:C5119|UMLS:C1334946 http://purl.obolibrary.org/obo/MONDO_0003103 neoplasms, nerve Root|neoplasm of nerve Root|neoplasm of the nerve Root|nerve Root tumor|neoplasm of nerve root|nerve root tumor|nerve Root neoplasms|nerve root neoplasm (disease)|tumor of the nerve Root|tumor of nerve Root|tumor of nerve root|nerve Root tumors MONDO:0005764 follicular dendritic cell sarcoma biolink:Disease mondo ICD10:C96.4|MESH:D054740|UMLS:C1260325|ONCOTREE:FDCS|EFO:0007276|Orphanet:86902|DOID:6262|NCIT:C9281|ICDO:9758/3|ICDO:9758/1 A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases. UMLS:C1260325|DOID:6262|NCIT:C9281|ORPHA:86902|MESH:D054740 http://purl.obolibrary.org/obo/MONDO_0005764 follicular Dendritic cell sarcoma|follicular Dendritic cell sarcoma/tumor|sarcoma of follicular dendritic cell|follicular dendritic cell sarcoma|follicular dendritic cell tumour ordo_disease HGNC:9141 PMVK biolink:OntologyClass mondo http://identifiers.org/hgnc/9141 MONDO:0005767 gas gangrene biolink:Disease mondo EFO:0007279|COHD:433696|DOID:9159|ICD9:040.0|SCTID:80466000|UMLS:C0017105|MESH:D005738|ICD10:A48.0 A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases. UMLS:C0017105|DOID:9159|MESH:D005738|SNOMEDCT:80466000 http://purl.obolibrary.org/obo/MONDO_0005767 gas bacillus infection|myonecrosis|gas gangrene MONDO:0003104 epicardium cancer biolink:Disease mondo NCIT:C4568|UMLS:C2607932|DOID:4699 A malignant neoplasm involving the epicardium. DOID:4699|NCIT:C4568|UMLS:C2607932 http://purl.obolibrary.org/obo/MONDO_0003104 malignant tumor of the epicardium|epicardial tumor|malignant epicardium neoplasm|malignant epicardial tumor|malignant neoplasm of the epicardium|malignant epicardial neoplasm|cancer of epicardium|malignant neoplasm of epicardium|epicardium cancer|malignant tumor of epicardium MONDO:0005766 fungal lung infectious disease biolink:Disease mondo EFO:0007278|UMLS:C0024116|MESH:D008172 Pulmonary diseases caused by fungal infections, usually through hematogenous spread. MESH:D008172|UMLS:C0024116 http://purl.obolibrary.org/obo/MONDO_0005766 pulmonary fungal disease|fungal lung disease|Fungi lung disease|fungal diseases, pulmonary|fungal infection, pulmonary|fungal lung diseases|pulmonary fungal diseases|lung disease, fungal|pulmonary fungal infection|Fungi caused lung disease|fungal infections, pulmonary|pulmonary fungal infections|fungal disease, pulmonary MONDO:0003105 prostate disease biolink:Disease mondo MESH:D011469|NCIT:C26865|UMLS:C0033575|ICD9:602.9|SCTID:30281009|COHD:196734|ICD9:602.8|ICD10:N42.9|DOID:47 A disease involving the prostate gland. MESH:D011469|NCIT:C26865|UMLS:C0033575|DOID:47|SNOMEDCT:30281009 http://purl.obolibrary.org/obo/MONDO_0003105 prostate gland disease or disorder|disorder of prostate gland|disease of prostate gland|disease or disorder of prostate gland|disorder of prostate gland|prostate disease|prostate gland disease|prostate disorder MONDO:0005761 filarial elephantiasis biolink:Disease mondo MESH:D004605|ICD10:B74.2|ICD10:B74.1|SCTID:14100003|NCIT:C128360|SCTID:240820001|ICD9:374.83|ICD10:B74.0|EFO:0007272|MedDRA:10016675|DOID:12211|GARD:0003321|Orphanet:2035 Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis. MEDDRA:10016675|MESH:D004605|SNOMEDCT:240820001|ORPHA:2035|SNOMEDCT:14100003|NCIT:C128360|DOID:12211 http://purl.obolibrary.org/obo/MONDO_0005761 elephantiasis of eyelid|Malayi tropical eosinphilia|Wuchereriasis|lymphatic filariasis|Wuchereria Bancrofti infection|elephantiasis|Bancroftian elephantiasis|Bancroftian filariasis|Bancroftian filarial chyluria|eyelid elephantiasis ordo_disease MONDO:0005760 obsolete fibroepithelial neoplasm biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005760 MONDO:0005763 Flaviviridae infectious disease biolink:Disease mondo MESH:D018178|EFO:0007274|SCTID:111865007 Infections with viruses of the family flaviviridae. MESH:D018178|SNOMEDCT:111865007 http://purl.obolibrary.org/obo/MONDO_0005763 Flaviviridae disease or disorder|Flaviviridae caused disease or disorder MONDO:0003100 nerve plexus neoplasm biolink:Disease mondo DOID:4693|UMLS:C1334945|NCIT:C5822 A neoplasm (disease) that involves the nerve plexus. NCIT:C5822|UMLS:C1334945|DOID:4693 http://purl.obolibrary.org/obo/MONDO_0003100 nerve plexus neoplasm (disease)|nerve plexus neoplasm|tumor of nerve plexus|neoplasm of the nerve plexus|nerve plexus tumors|neural plexus tumors|nerve plexus neoplasms|neoplasm of nerve plexus|nerve plexus tumor|tumor of the nerve plexus|neural plexus neoplasms MONDO:0003101 obsolete intraneural perineurioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003101 MONDO:0005762 Filoviridae infectious disease biolink:Disease mondo EFO:0007273|UMLS:C0242917|MESH:D018702 Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown. MESH:D018702|UMLS:C0242917 http://purl.obolibrary.org/obo/MONDO_0005762 Filoviridae caused disease or disorder|Filoviridae disease or disorder GO:0046488 phosphatidylinositol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolism|PtdIns metabolic process|phosphoinositide metabolism|phosphoinositide metabolic process|PtdIns metabolism GO:0046486 glycerolipid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolism GO:0046485 ether lipid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. http://purl.obolibrary.org/obo/GO_0046485 ether lipid metabolism|plasmalogen metabolic process MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport biolink:Disease mondo UMLS:CN227203|Orphanet:309827 ORPHA:309827|UMLS:CN227203 http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport ordo_group_of_disorders MONDO:0017759 disorder of catecholamine synthesis biolink:Disease mondo SCTID:237921002|UMLS:C0342685|Orphanet:309830|ICD9:270.8 SNOMEDCT:237921002|UMLS:C0342685|ORPHA:309830 http://purl.obolibrary.org/obo/MONDO_0017759 ordo_group_of_disorders MONDO:0017754 inborn disorder of porphyrin metabolism biolink:Disease mondo Orphanet:309813|ICD10:E80.5|ICD10:E80.7|UMLS:C1275125|ICD10:E80.6|ICD10:E80.4|SCTID:403832004|ICD10:E80.3|ICD10:E80.2|ICD10:E80.1|ICD10:E80.0 An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. UMLS:C1275125|ORPHA:309813|SNOMEDCT:403832004 http://purl.obolibrary.org/obo/MONDO_0017754 inborn porphyrin-containing compound metabolic process disorder|rare inborn error of porphyrin-containing compound metabolic process|disorder of porphyrin and haem metabolism|inborn error of porphyrin-containing compound metabolic process|rare inborn error of porphyrin-containing compound metabolic process|inherited disorder of porphyrin metabolism|inborn disorder of porphyrin and haem metabolism ordo_group_of_disorders MONDO:0017755 inborn disorder of bilirubin metabolism biolink:Disease mondo UMLS:CN227200|Orphanet:309816 An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. ORPHA:309816|UMLS:CN227200 http://purl.obolibrary.org/obo/MONDO_0017755 hereditary bilirubin metabolism disease|disorder of bilirubin metabolism|bilirubin metabolism disorder|inborn disorder of bilirubin metabolism and excretion|disorder of bilirubin metabolism and excretion ordo_group_of_disorders MONDO:0017756 disorder of pterin metabolism biolink:Disease mondo UMLS:CN227201|Orphanet:309819 ORPHA:309819|UMLS:CN227201 http://purl.obolibrary.org/obo/MONDO_0017756 ordo_group_of_disorders MONDO:0017757 disorder of metabolite absorption and transport biolink:Disease mondo UMLS:CN227202|Orphanet:309824 ORPHA:309824|UMLS:CN227202 http://purl.obolibrary.org/obo/MONDO_0017757 ordo_group_of_disorders MONDO:0017750 defect in conserved oligomeric Golgi complex biolink:Disease mondo ICD10:E77.8|Orphanet:309568 ORPHA:309568 http://purl.obolibrary.org/obo/MONDO_0017750 defect in COG complex ordo_group_of_disorders MONDO:0017751 obsolete Reye syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017751 MONDO:0017752 defect in V-ATPase biolink:Disease mondo Orphanet:309778|ICD10:E77.8 ORPHA:309778 http://purl.obolibrary.org/obo/MONDO_0017752 ordo_group_of_disorders HGNC:9142 PRRX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9142 MONDO:0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation biolink:Disease mondo UMLS:CN227198|Orphanet:309810|GARD:0012476 ORPHA:309810|UMLS:CN227198 http://purl.obolibrary.org/obo/MONDO_0017753 ordo_group_of_disorders|gard_rare HGNC:9143 PHOX2B biolink:OntologyClass mondo http://identifiers.org/hgnc/9143 MONDO:0003117 somatoform disorder biolink:Disease mondo ICD10:F45|ICD10:F45.0|MESH:D013001|COHD:435784|ICD9:300.8|ICD10:F45.9|SCTID:31297008|DOID:4737|ICD9:300.81|NCIT:C34956|ICD9:306.8 A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons. NCIT:C34956|DOID:4737|SNOMEDCT:31297008|MESH:D013001 http://purl.obolibrary.org/obo/MONDO_0003117 psychosomatic disorder|physiological malfunction arising from mental factor|somatoform disorder|psychophysiologic disorder MONDO:0005779 hand, foot and mouth disease biolink:Disease mondo SCTID:266108008|UMLS:C0018572|NCIT:C128439|EFO:0007294|ICD10:B08.4|DOID:10881|ICD9:074.3|MESH:D006232 A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks. MESH:D006232|SNOMEDCT:266108008|UMLS:C0018572|DOID:10881|NCIT:C128439 http://purl.obolibrary.org/obo/MONDO_0005779 HFMD|hand, foot, and mouth disease|vesicular stomatitis and exanthem|hand foot and mouth disease MONDO:0003118 testicular Brenner tumor biolink:Disease mondo NCIT:C39953|DOID:4739|UMLS:C1515281 An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. DOID:4739|NCIT:C39953|UMLS:C1515281 http://purl.obolibrary.org/obo/MONDO_0003118 testes, rudimentary Brenner tumor|testis Brenner tumor HP:0031192 Abnormal morphology of left ventricular trabeculae biolink:PhenotypicFeature mondo Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). http://purl.obolibrary.org/obo/HP_0031192 MONDO:0003119 obsolete histiocytoid hemangioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003119 MONDO:0003113 extragonadal germ cell cancer biolink:Disease mondo UMLS:C1334581|NCIT:C8881|DOID:4717 A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. UMLS:C1334581|DOID:4717|NCIT:C8881 http://purl.obolibrary.org/obo/MONDO_0003113 malignant neoplasm of the extragonadal germ cell|malignant extragonadal germ cell tumor|extragonadal germ cell tumor, malignant|neoplasm of extragonadal germ cell|tumor of extragonadal germ cell|malignant tumor of extragonadal germ cell|malignant tumor of the extragonadal germ cell|extragonadal germ cell malignant tumor|malignant neoplasm of extragonadal germ cell MONDO:0005776 gnathomiasis biolink:Disease mondo NCIT:C128395|DOID:11379|ICD10:B83.1|EFO:0007289|SCTID:44086001|ICD9:128.1|GARD:0009286|UMLS:C0018013|MESH:D058429 An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia). UMLS:C0018013|DOID:11379|MESH:D058429|NCIT:C128395|SNOMEDCT:44086001 http://purl.obolibrary.org/obo/MONDO_0005776 Gnathostoma infection|Gnathostomiasis|infectious disease by Gnathostoma CHEBI:25703 organic phosphate biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_25703 organophosphate esters|organic phosphate|organic phosphate ester|organic phosphates|organic phosphate esters|organophosphate ester MONDO:0003114 obsolete bone giant cell sarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003114 MONDO:0005775 G6PD deficiency biolink:Disease mondo EFO:0007287|UMLS:C2939465|SCTID:62403005|MESH:D005955|NCIT:C98933|DOID:2862 An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. DOID:2862|NCIT:C98933|UMLS:C2939465|MESH:D005955|SNOMEDCT:62403005 http://purl.obolibrary.org/obo/MONDO_0005775 glucose-6-phosphate dehydrogenase deficiency|inborn error of glucose-6-phosphate dehydrogenase activity|inborn glucose-6-phosphate dehydrogenase activity disorder|rare inborn error of glucose-6-phosphate dehydrogenase activity|G6PD deficiency|glucosephosphate dehydrogenase deficiency|rare inborn error of glucose-6-phosphate dehydrogenase activity|G-6-PD variant enzyme deficiency Anemia|G6PD|deficiency of G-6PD MONDO:0003115 subglottic hemangioma biolink:Disease mondo UMLS:C1336518|DOID:472|NCIT:C6026 A hemangioma arising from the subglottic area. NCIT:C6026|UMLS:C1336518|DOID:472 http://purl.obolibrary.org/obo/MONDO_0003115 angioma of subglottis|hemangioma of subglottis|subglottic hemangioma|angioma of the subglottis|subglottis hemangioma|subglottic angioma|subglottis angioma|hemangioma of the subglottis MONDO:0005778 haemonchiasis biolink:Disease mondo MESH:D006188|DOID:3332|EFO:0007293|UMLS:C0018477 Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. MESH:D006188|UMLS:C0018477|DOID:3332 http://purl.obolibrary.org/obo/MONDO_0005778 CHEBI:25701 organic oxide biolink:ChemicalSubstance mondo An oxide in which the oxygen atom is bonded to a carbon atom. http://purl.obolibrary.org/obo/CHEBI_25701 organic oxides MONDO:0005777 granuloma inguinale biolink:Disease mondo NCIT:C3065|MESH:D006100|ICD10:A58|SCTID:28867007|UMLS:C0018190|GARD:0009532|COHD:199726|ICD9:099.2|EFO:0007291|DOID:9113 A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia. SNOMEDCT:28867007|UMLS:C0018190|DOID:9113|NCIT:C3065|MESH:D006100 http://purl.obolibrary.org/obo/MONDO_0005777 granuloma inguinale|pudendal ulcer|donovanosis gard_rare MONDO:0003116 obsolete calciphylaxis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003116 MONDO:0005772 geotrichosis biolink:Disease mondo SCTID:13969006|UMLS:C0017455|EFO:0007284|ICD9:117.9|MESH:D005847|DOID:2832|ICD10:B48.3 Infection due to the fungus Geotrichum. DOID:2832|MESH:D005847|UMLS:C0017455|SNOMEDCT:13969006 http://purl.obolibrary.org/obo/MONDO_0005772 MONDO:0005771 geographic tongue biolink:Disease mondo UMLS:C0017677|EFO:0007283|ICD9:529.1|SCTID:59032001|ICD10:K14.1|NCIT:C84588|COHD:441333|DOID:1455 A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment. DOID:1455|UMLS:C0017677|NCIT:C84588|SNOMEDCT:59032001 http://purl.obolibrary.org/obo/MONDO_0005771 Pityriasis linguae|glossitis areata exfoliativa|benign migratory glossitis MONDO:0003110 skin hemangioma biolink:Disease mondo NCIT:C4905|DOID:471|UMLS:C0687140|SCTID:93471006 A hemangioma arising from the skin. NCIT:C4905|UMLS:C0687140|DOID:471|SNOMEDCT:93471006 http://purl.obolibrary.org/obo/MONDO_0003110 angioma of the skin|angioma of skin|hemangioma of skin|hemangioma of the skin|skin hemangioma|zone of skin hemangioma|angiomatous naevus of skin|skin angioma|hemangioma of zone of skin MONDO:0003111 gastric neuroendocrine neoplasm biolink:Disease mondo Orphanet:100075|UMLS:C1333783|DOID:4715|SCTID:721194008|NCIT:C5696 A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). NCIT:C5696|ORPHA:100075|UMLS:C1333783|SNOMEDCT:721194008|DOID:4715 http://purl.obolibrary.org/obo/MONDO_0003111 stomach neuroendocrine tumor|stomach NET|neuroendocrine tumor of stomach|neuroendocrine neoplasm of stomach|stomach neuroendocrine tumor|neuroendocrine neoplasm of the stomach|NET of stomach|gastric neuroendocrine neoplasm|stomach neuroendocrine neoplasm|stomach neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine tumor of the stomach MONDO:0005774 glanders biolink:Disease mondo GARD:0009536|ICD10:A24.0|UMLS:C0017589|NCIT:C34638|EFO:0007286|MESH:D005896|DOID:13444|COHD:437492|ICD9:024|SCTID:4639008 A condition resulting from infection by Burkholderia mallei, which mainly affects horses. SNOMEDCT:4639008|MESH:D005896|UMLS:C0017589|NCIT:C34638|DOID:13444 http://purl.obolibrary.org/obo/MONDO_0005774 Burkholderia mallei infection|farcy pipes|Burkholderia mallei|infection due to Pseudomonas mallei|Burkholderia mallei disease or disorder|Burkholderia mallei infectious disease|Burkholderia mallei caused disease or disorder gard_rare MONDO:0005773 Gerstmann syndrome biolink:Disease mondo SCTID:36785009|MedDRA:10048608|MESH:D005862|EFO:0007285|GARD:0008660|ICD9:784.69|DOID:4969|ICD10:F81.2|Orphanet:221117 Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe. ORPHA:221117|UMLS:C0017494|MESH:D005862|SNOMEDCT:36785009|MEDDRA:10048608|DOID:4969 http://purl.obolibrary.org/obo/MONDO_0005773 Gerstmann Badal syndrome|GS|developmental Gerstmann syndrome|aphasia-angular gyrus syndrome|Gerstmann tetrad gard_rare|ordo_disease MONDO:0003112 malignant gastric germ cell tumor biolink:Disease mondo UMLS:C1334584|DOID:4716|UMLS:C1333769|NCIT:C5486 A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma. NCIT:C5486|UMLS:C1334584|UMLS:C1333769|DOID:4716 http://purl.obolibrary.org/obo/MONDO_0003112 malignant germ cell neoplasm of the stomach|malignant germ cell neoplasm of stomach|malignant gastric germ cell neoplasm|malignant gastric germ cell tumor|malignant germ cell tumor of the stomach|malignant germ cell tumor of stomach|germ cell tumor of the stomach MONDO:0005770 genital herpes biolink:Disease mondo DOID:8704|ICD9:054.10|NCIT:C14364|UMLS:C0019342|SCTID:33839006|EFO:0007282|ICD9:054.1|ICD9:054.19|MESH:D006558 Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. DOID:8704|SNOMEDCT:33839006|UMLS:C0019342|MESH:D006558|NCIT:C14364 http://purl.obolibrary.org/obo/MONDO_0005770 venereal herpes|genital herpes simplex|HERPES genitalia|Virus-genital Herpes|Herpes Genitalis CHEBI:597326 pyridoxal 5'-phosphate(2-) biolink:ChemicalSubstance mondo The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate. http://purl.obolibrary.org/obo/CHEBI_597326 3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate dianion|pyridoxal 5'-phosphate|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl phosphate|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate(2-)|pyridoxal 5'-phosphate dianion GO:0046496 nicotinamide nucleotide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. http://purl.obolibrary.org/obo/GO_0046496 nicotinamide nucleotide metabolism MONDO:0017747 disorder of fucoglycosan synthesis biolink:Disease mondo Orphanet:309505|ICD10:E77.8|UMLS:CN227193 ORPHA:309505|UMLS:CN227193 http://purl.obolibrary.org/obo/MONDO_0017747 ordo_group_of_disorders MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation biolink:Disease mondo Orphanet:309515|ICD10:E77.8|UMLS:CN227194 ORPHA:309515|UMLS:CN227194 http://purl.obolibrary.org/obo/MONDO_0017748 disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation|disorder of glycosphingolipid and GPI-anchored proteins glycosylation ordo_group_of_disorders MONDO:0017749 disorder of multiple glycosylation biolink:Disease mondo Orphanet:309526|ICD10:E77.8|UMLS:CN227195 ORPHA:309526|UMLS:CN227195 http://purl.obolibrary.org/obo/MONDO_0017749 ordo_group_of_disorders MONDO:0017743 disorder of O-N-acetylgalactosaminylglycan synthesis biolink:Disease mondo Orphanet:309458|ICD10:E77.8|UMLS:CN227190 ORPHA:309458|UMLS:CN227190 http://purl.obolibrary.org/obo/MONDO_0017743 ordo_group_of_disorders MONDO:0017744 disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis biolink:Disease mondo ICD10:E77.8|Orphanet:309463|UMLS:CN227191 ORPHA:309463|UMLS:CN227191 http://purl.obolibrary.org/obo/MONDO_0017744 ordo_group_of_disorders MONDO:0017745 disorder of O-mannosylglycan synthesis biolink:Disease mondo Orphanet:309469|ICD10:E77.8|UMLS:CN227192 ORPHA:309469|UMLS:CN227192 http://purl.obolibrary.org/obo/MONDO_0017745 ordo_group_of_disorders MONDO:0017746 atypical Rett syndrome biolink:Disease mondo GARD:0004694|Orphanet:3095|UMLS:C2748910|SCTID:718393002|ICD10:F84.2 Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT). SNOMEDCT:718393002|UMLS:C2748910|ORPHA:3095 http://purl.obolibrary.org/obo/MONDO_0017746 Rett like syndrome|Rett syndrome variant|atypical RTT ordo_disease HGNC:9155 PNLIP biolink:OntologyClass mondo http://identifiers.org/hgnc/9155 MONDO:0017740 disorder of protein N-glycosylation biolink:Disease mondo ICD10:E77.8|UMLS:CN227187|Orphanet:309347 A disease that has its basis in the disruption of protein N-linked glycosylation. ORPHA:309347|UMLS:CN227187 http://purl.obolibrary.org/obo/MONDO_0017740 disorder of protein N-linked glycosylation|disorder of protein N-linked glycosylation|protein N-linked glycosylation disease ordo_group_of_disorders MONDO:0017741 disorder of protein O-glycosylation biolink:Disease mondo UMLS:CN227188|Orphanet:309447|ICD10:E77.8 A disease that has its basis in the disruption of protein O-linked glycosylation. ORPHA:309447|UMLS:CN227188 http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-linked glycosylation|disorder of protein O-linked glycosylation|protein O-linked glycosylation disease ordo_group_of_disorders HGNC:9153 PNKD biolink:OntologyClass mondo http://identifiers.org/hgnc/9153 MONDO:0017742 disorder of O-xylosylglycan synthesis biolink:Disease mondo UMLS:CN227189|ICD10:E77.8|Orphanet:309450 ORPHA:309450|UMLS:CN227189 http://purl.obolibrary.org/obo/MONDO_0017742 ordo_group_of_disorders HGNC:9154 PNKP biolink:OntologyClass mondo http://identifiers.org/hgnc/9154 MONDO:0005747 enterovirus infectious disease biolink:Disease mondo ICD9:079.89|SCTID:53648006|EFO:0007255|MESH:D004769|UMLS:C0014378 An disease caused by infection with Enterovirus. SNOMEDCT:53648006|MESH:D004769|UMLS:C0014378 http://purl.obolibrary.org/obo/MONDO_0005747 infections, Enterovirus|enteroviral infection|disease due to enterovirus|Enterovirus disease or disorder|enterovirus infectious disease|Enterovirus infectious disease|infection, Enterovirus|Enterovirus caused disease or disorder|Enterovirus infection|disease caused by enterovirus|enterovirus infection MONDO:0005746 enterobiasis biolink:Disease mondo ICD9:127.4|COHD:197223|SCTID:266162007|NCIT:C128396|DOID:7457|UMLS:C0030100|UMLS:C0086227|EFO:0007254|ICD10:B80 An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus. NCIT:C128396|UMLS:C0086227|DOID:7457|SNOMEDCT:266162007|UMLS:C0030100 http://purl.obolibrary.org/obo/MONDO_0005746 oxyuriasis|Oxyuris vermicularis infection|Enterobius vermicularis infectious disease|Enterobius vermicularis caused disease or disorder|threadworm infection|Enterobius vermicularis infection|pinworm infection|Enterobius vermicularis disease or disorder MONDO:0005749 eosinophilic pneumonia biolink:Disease mondo EFO:0007257|NCIT:C35150|DOID:5870|UMLS:C1527407|ICD10:J82 An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss. UMLS:C1527407|DOID:5870|NCIT:C35150 http://purl.obolibrary.org/obo/MONDO_0005749 pneumonia, eosinophilic|eosinophilic pneumonia MONDO:0005748 enzootic pneumonia of calves biolink:Disease mondo UMLS:C0276046|MESH:D048089|EFO:0007256 Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species. UMLS:C0276046|MESH:D048089 http://purl.obolibrary.org/obo/MONDO_0005748 MONDO:0005743 encephalitozoonosis biolink:Disease mondo MESH:D016890|DOID:4270|ICD9:136.8|SCTID:12825006|EFO:0007250|UMLS:C0085412 Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium. DOID:4270|SNOMEDCT:12825006|MESH:D016890|UMLS:C0085412 http://purl.obolibrary.org/obo/MONDO_0005743 infection by Encephalitozoon OIO:hasExactSynonym has_exact_synonym biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#hasExactSynonym MONDO:0005742 emphysematous cholecystitis biolink:Disease mondo DOID:9765|MESH:D041882|EFO:0007249|NCIT:C35592|UMLS:C0521610|SCTID:95558008 Cholecystitis resulting from infection by gas producing organisms. MESH:D041882|SNOMEDCT:95558008|DOID:9765|UMLS:C0521610|NCIT:C35592 http://purl.obolibrary.org/obo/MONDO_0005742 gaseous pericholecystitis MONDO:0005745 Enoplea infectious disease biolink:Disease mondo MESH:D017189|EFO:0007253 Infections with nematodes of the order enoplida. MESH:D017189 http://purl.obolibrary.org/obo/MONDO_0005745 Enoplea disease or disorder|Enoplea caused disease or disorder MONDO:0005744 yolk sac tumor biolink:Disease mondo SCTID:404081005|Orphanet:876|ICD10:C56|NCIT:C3011|MedDRA:10048251|EFO:0007252|ICDO:9071/3|UMLS:C0014145|ICD10:C62.9|ONCOTREE:BYST|DOID:1911 A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum. ORPHA:876|DOID:1911|NCIT:C3011|SNOMEDCT:404081005|UMLS:C0014145|MEDDRA:10048251 http://purl.obolibrary.org/obo/MONDO_0005744 yolk Sac tumor site unspecified|infantile embryonal carcinoma|hepatoid yolk sac tumour|yolk SAC tumor, malignant|yolk Sac neoplasm|endodermal sinus tumor|yolk sac tumor|yolk Sac tumor|yolk Sac tumour site unspecified|endodermal sinus neoplasm ordo_disease MONDO:0005741 egg allergy biolink:Disease mondo COHD:442116|DOID:4377|SCTID:91930004|EFO:0007248|UMLS:C0559469|MESH:D021181|ICD9:V15.03 Allergic reaction to eggs that is triggered by the immune system. DOID:4377|UMLS:C0559469|MESH:D021181|SNOMEDCT:91930004 http://purl.obolibrary.org/obo/MONDO_0005741 egg allergic disease|allergy of egg|allergy to eggs MONDO:0005740 Echovirus infectious disease biolink:Disease mondo SCTID:271532008|EFO:0007247|UMLS:C0013533|MESH:D004457 Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses. SNOMEDCT:271532008|MESH:D004457|UMLS:C0013533 http://purl.obolibrary.org/obo/MONDO_0005740 Echovirus infection|infection, echo Virus|Echovirus caused disease or disorder|infections, echo Virus|echo Virus infection|infections, Echovirus|infection, Echovirus|echo Virus infections|Echovirus disease or disorder MONDO:0017729 metachromatic leukodystrophy, late infantile form biolink:Disease mondo ICD10:E75.2|Orphanet:309256 ORPHA:309256 http://purl.obolibrary.org/obo/MONDO_0017729 MLD, late infantile form|arylsulfatase A deficiency, late infantile form ordo_clinical_subtype MONDO:0017736 disorder of sialic acid metabolism biolink:Disease mondo Orphanet:309319|UMLS:C0342851|ICD10:E77.8|SCTID:238050009|ICD9:277.89 UMLS:C0342851|ORPHA:309319|SNOMEDCT:238050009 http://purl.obolibrary.org/obo/MONDO_0017736 ordo_group_of_disorders MONDO:0017737 intermediate severe Salla disease biolink:Disease mondo Orphanet:309331|GARD:0010871|ICD10:E77.8|UMLS:CN203640 ORPHA:309331|UMLS:CN203640 http://purl.obolibrary.org/obo/MONDO_0017737 Intermediate Salla disease gard_rare|ordo_clinical_subtype MONDO:0017738 lysosomal glycogen storage disease biolink:Disease mondo UMLS:CN203642|ICD10:E74.0|Orphanet:309337 ORPHA:309337|UMLS:CN203642 http://purl.obolibrary.org/obo/MONDO_0017738 ordo_group_of_disorders MONDO:0017739 disorder of lysosomal-related organelles biolink:Disease mondo Orphanet:309340|UMLS:CN227186 ORPHA:309340|UMLS:CN227186 http://purl.obolibrary.org/obo/MONDO_0017739 ordo_group_of_disorders MONDO:0017732 alpha-mannosidosis, infantile form biolink:Disease mondo Orphanet:309282|ICD10:E77.1 ORPHA:309282 http://purl.obolibrary.org/obo/MONDO_0017732 lysosomal alpha-D-mannosidase deficiency, infantile form ordo_clinical_subtype MONDO:0017733 alpha-mannosidosis, adult form biolink:Disease mondo UMLS:CN036949|ICD10:E77.1|Orphanet:309288|GTR:AN0103811|GTR:AN0103810 ORPHA:309288|UMLS:CN036949 http://purl.obolibrary.org/obo/MONDO_0017733 Alpha-mannosidosis adult-onset form|lysosomal alpha-D-mannosidase deficiency, adult form ordo_clinical_subtype MONDO:0017734 sialidosis biolink:Disease mondo Orphanet:309294|SCTID:38795005|ICD10:E77.1|MedDRA:10058800 Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. SNOMEDCT:38795005|ORPHA:309294|MEDDRA:10058800 http://purl.obolibrary.org/obo/MONDO_0017734 ordo_group_of_disorders MONDO:0017735 congenital aortic valve stenosis biolink:Disease mondo MedDRA:10010371|COHD:314457|SCTID:18546004|ICD10:Q23.0|Orphanet:3093|ICD9:746.3 SNOMEDCT:18546004|ORPHA:3093|UMLS:C0152417|MEDDRA:10010371 http://purl.obolibrary.org/obo/MONDO_0017735 ordo_morphological_anomaly NCBITaxon:46580 Spirometra organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_46580 MONDO:0017730 metachromatic leukodystrophy, adult form biolink:Disease mondo Orphanet:309271|ICD10:E75.2 ORPHA:309271|UMLS:C0751279 http://purl.obolibrary.org/obo/MONDO_0017730 arylsulfatase A deficiency, adult form|MLD, adult form ordo_clinical_subtype MONDO:0017731 glycoproteinosis biolink:Disease mondo ICD10:E77.1|ICD10:E77.0|GARD:0010670|ICD10:E77.9|Orphanet:309279|ICD10:E77.8 ORPHA:309279 http://purl.obolibrary.org/obo/MONDO_0017731 ordo_group_of_disorders|gard_rare MONDO:0005739 echinostomiasis biolink:Disease mondo UMLS:C0013514|SCTID:52918004|ICD10:B66.8|EFO:0007246|ICD9:121.8|MESH:D004451|DOID:1218 Infection by flukes of the genus Echinostoma. UMLS:C0013514|DOID:1218|SNOMEDCT:52918004|MESH:D004451 http://purl.obolibrary.org/obo/MONDO_0005739 Echinostomatoidea infectious disease|Echinostomatoidea caused disease or disorder|infection by Echinochasmus|Echinostomatoidea disease or disorder MONDO:0005758 eunuchism biolink:Disease mondo NCIT:C131195|SCTID:267403002|DOID:5003|EFO:0007266|ICD9:257.2|UMLS:C0238117|MESH:D005058 The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones. NCIT:C131195|SNOMEDCT:267403002|MESH:D005058|UMLS:C0238117|DOID:5003 http://purl.obolibrary.org/obo/MONDO_0005758 hypergonadotropic hypogonadism (Male)|Male hypergonadotropic hypogonadism|Primary testicular failure MONDO:0005757 eumycotic mycetoma biolink:Disease mondo ICD10:B47|EFO:0007265|ICD10:B47.9|SCTID:410038006|DOID:13078|ICD9:117.4 A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes. DOID:13078|SNOMEDCT:410038006 http://purl.obolibrary.org/obo/MONDO_0005757 Maduromycosis, mycotic|mycotic mycetoma|maduromycosis|eumycetoma|Madura foot MONDO:0005759 fascioloidiasis biolink:Disease mondo UMLS:C0015655|MESH:D005213|EFO:0007268|DOID:1217|SCTID:69550000 Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma. MESH:D005213|DOID:1217|SNOMEDCT:69550000|UMLS:C0015655 http://purl.obolibrary.org/obo/MONDO_0005759 MONDO:0005754 epilepsy with generalized tonic-clonic seizures biolink:Disease mondo ICD9:345.10|DOID:7725|MESH:D004830|SCTID:352818000|NCIT:C3022|EFO:0007262|UMLS:C0014549 A generalized tonic-clonic seizure. SNOMEDCT:352818000|NCIT:C3022|MESH:D004830|DOID:7725|UMLS:C0014549 http://purl.obolibrary.org/obo/MONDO_0005754 tonic-clonic epilepsy|grand Mal epilepsy|epileptic seizures, tonic-clonic HGNC:9173 POLA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9173 MONDO:0005753 epiglottitis biolink:Disease mondo MESH:D004826|SCTID:80384002|COHD:4105773|ICD10:J05.1|EFO:0007261|ICD10:J05.10|NCIT:C116007|ICD9:464.3|UMLS:C0014541|DOID:9398 Inflammation of the epiglottis. SNOMEDCT:80384002|DOID:9398|MESH:D004826|NCIT:C116007|UMLS:C0014541 http://purl.obolibrary.org/obo/MONDO_0005753 mucosa of epiglottis inflammation|acute epiglottitis|supraglottitis|inflammation of mucosa of epiglottis|acute epiglottitis and supraglottitis MONDO:0005756 ethmoid sinusitis biolink:Disease mondo ICD10:J32.2|DOID:9507|SCTID:18643000|MESH:D015521|UMLS:C0015029|NCIT:C34597|EFO:0007264 An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus. SNOMEDCT:18643000|NCIT:C34597|DOID:9507|UMLS:C0015029|MESH:D015521 http://purl.obolibrary.org/obo/MONDO_0005756 ethmoid bone sinusitis|ethmoiditis|ethmoidal sinusitis|sinusitis of ethmoid bone MONDO:0005755 equine infectious anemia biolink:Disease mondo EFO:0007263|MESH:D004859|UMLS:C0014661 Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions. MESH:D004859|UMLS:C0014661 http://purl.obolibrary.org/obo/MONDO_0005755 MONDO:0005750 ephemeral fever biolink:Disease mondo EFO:0007258|UMLS:C0014481|MESH:D004810 An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness. MESH:D004810|UMLS:C0014481 http://purl.obolibrary.org/obo/MONDO_0005750 CHEBI:13719 acetylsalicylate biolink:ChemicalSubstance mondo A benzoate that is the conjugate base of acetylsalicylic acid, arising from deprotonation of the carboxy group. http://purl.obolibrary.org/obo/CHEBI_13719 2-(acetyloxy)benzoate|acetylsalicylate MONDO:0005752 epidural abscess biolink:Disease mondo MESH:D020802|EFO:0007260|UMLS:C0270629|DOID:11387|SCTID:61974008 Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12) DOID:11387|MESH:D020802|SNOMEDCT:61974008|UMLS:C0270629 http://purl.obolibrary.org/obo/MONDO_0005752 abscess epidural|intraspinal epidural abscess|spinal epidural abscess|intraspinal extradural abscess|spinal extradural abscess|spinal epidural abscess (disorder)|extradural intraspinal abscess MONDO:0005751 epidemic pleurodynia biolink:Disease mondo EFO:0007259|ICD9:074.1|DOID:10882|MESH:D011000|ICD10:B33.0|UMLS:C0032238|COHD:195464|SCTID:83264000 An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses. SNOMEDCT:83264000|UMLS:C0032238|DOID:10882|MESH:D011000 http://purl.obolibrary.org/obo/MONDO_0005751 Bamble disease|epidemic pleurisy|epidemic myalgia|epidemic, myositis|devil's grip|Bornholm disease MONDO:0017718 mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes biolink:Disease mondo Orphanet:309136|UMLS:CN227185 UMLS:CN227185|ORPHA:309136 http://purl.obolibrary.org/obo/MONDO_0017718 ordo_group_of_disorders MONDO:0017719 gangliosidosis biolink:Disease mondo ICD10:E75.10|SCTID:50967008|GARD:0012510|ICD10:E75.0|Orphanet:309144|UMLS:C0017083|DOID:2368|ICD10:E75.1 A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. SNOMEDCT:50967008|DOID:2368|ORPHA:309144|UMLS:C0017083 http://purl.obolibrary.org/obo/MONDO_0017719 mucolipidosis type IV ordo_group_of_disorders MONDO:0017725 Tay-Sachs disease, b variant, juvenile form biolink:Disease mondo UMLS:CN203621|Orphanet:309185|ICD10:E75.0 ORPHA:309185|UMLS:CN203621 http://purl.obolibrary.org/obo/MONDO_0017725 hexosaminidase A deficiency, juvenile form|GM2 gangliosidosis, B variant, juvenile form ordo_clinical_subtype MONDO:0017726 Tay-Sachs disease, b variant, adult form biolink:Disease mondo UMLS:C1848914|Orphanet:309192|ICD10:E75.0 ORPHA:309192|UMLS:C1848914 http://purl.obolibrary.org/obo/MONDO_0017726 GM2 gangliosidosis, B variant, adult form|hexosaminidase A deficiency, adult form ordo_clinical_subtype MONDO:0017727 fixed subaortic stenosis biolink:Disease mondo Orphanet:3092|ICD10:Q24.4 Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form. ORPHA:3092 http://purl.obolibrary.org/obo/MONDO_0017727 ordo_morphological_anomaly MONDO:0017728 Tay-Sachs disease, B1 variant biolink:Disease mondo ICD10:E75.0|Orphanet:309239|SCTID:238024005 SNOMEDCT:238024005|ORPHA:309239 http://purl.obolibrary.org/obo/MONDO_0017728 GM2 gangliosidosis, B1 variant|hexosaminidase A deficiency, B1 variant ordo_clinical_subtype MONDO:0017721 Sandhoff disease, infantile form biolink:Disease mondo UMLS:CN203617|ICD10:E75.0|Orphanet:309155 UMLS:C0751490|ORPHA:309155|UMLS:CN203617 http://purl.obolibrary.org/obo/MONDO_0017721 Hexosaminidases A and B deficiency, infantile form|infantile GM2 gangliosidosis 0 variant ordo_clinical_subtype MONDO:0017722 Sandhoff disease, juvenile form biolink:Disease mondo Orphanet:309162|UMLS:CN203618|ICD10:E75.0 UMLS:C0751491|ORPHA:309162|UMLS:CN203618 http://purl.obolibrary.org/obo/MONDO_0017722 Hexosaminidases A and B deficiency, juvenile form|juvenile GM2 gangliosidosis 0 variant ordo_clinical_subtype MONDO:0017723 Sandhoff disease, adult form biolink:Disease mondo ICD10:E75.0|UMLS:CN203619|Orphanet:309169 A Sandhoff disease that occurs in an adult. UMLS:C0751489|ORPHA:309169|UMLS:CN203619 http://purl.obolibrary.org/obo/MONDO_0017723 adult Sandhoff disease|Hexosaminidases A and B deficiency, adult form|Sandhoff disease of adults|adult GM2 gangliosidosis 0 variant ordo_clinical_subtype MONDO:0017724 Tay-Sachs disease, b variant, infantile form biolink:Disease mondo ICD10:E75.0|UMLS:CN203620|Orphanet:309178 ORPHA:309178|UMLS:CN203620 http://purl.obolibrary.org/obo/MONDO_0017724 GM2 gangliosidosis, B variant, infantile form|hexosaminidase A deficiency, infantile form ordo_clinical_subtype HGNC:9177 POLE biolink:OntologyClass mondo http://identifiers.org/hgnc/9177 HGNC:9175 POLD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9175 MONDO:0017720 GM2 gangliosidosis biolink:Disease mondo Orphanet:309152|ICD10:E75.0|DOID:3321|ICD10:E75.00|GARD:0002522|SCTID:33316007|MESH:D020143|UMLS:C0268274 A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. DOID:3321|ORPHA:309152|MESH:D020143|UMLS:C0268274|SNOMEDCT:33316007 http://purl.obolibrary.org/obo/MONDO_0017720 GM>2< gangliosidosis|GM2-gangliosidosis, B, B1, AB variant|gangliosidosis GM2 gard_rare|ordo_group_of_disorders HGNC:9179 POLG biolink:OntologyClass mondo http://identifiers.org/hgnc/9179 FOODON:03411335 crab biolink:OntologyClass mondo Crabs are decapod crustaceans of the infraorder *Brachyura*, which typically have a very short projecting "tail", usually entirely hidden under the thorax. They live in all the world's oceans, in fresh water, and on land, are generally covered with a thick exoskeleton and have a single pair of claws. Many other animals with similar names - such as hermit crabs, king crabs, porcelain crabs, horseshoe crabs, and crab lice - are not true crabs. Crabs are generally covered with a thick exoskeleton, composed primarily of highly mineralized chitin, and armed with a single pair of chelae (claws). Crabs are found in all of the world's oceans, while many crabs live in fresh water and on land, particularly in tropical regions. [https://en.wikipedia.org/wiki/Crab] http://purl.obolibrary.org/obo/FOODON_03411335 UBERON:0004819 kidney epithelium biolink:AnatomicalEntity mondo the cellular avascular layer of the kidney luminar surfaces http://purl.obolibrary.org/obo/UBERON_0004819 renal epithelium|epithelium of kidney|kidney epithelial tissue|epithelial tissue of kidney UBERON:0004817 lacrimal gland epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a lacrimal gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004817 epithelial tissue of lacrimal gland|epithelium of lacrimal gland|lacrimal gland epithelial tissue UBERON:0004815 lower respiratory tract epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a lower respiratory tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004815 epithelial tissue of lower respiratory tract|lower respiratory tract epithelial tissue|epithelium of lower respiratory tract UBERON:0004816 larynx epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a larynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004816 laryngeal epithelium|epithelial tissue of larynx|epithelium of larynx|larynx epithelial tissue UBERON:0004813 seminiferous tubule epithelium biolink:AnatomicalEntity mondo the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule http://purl.obolibrary.org/obo/UBERON_0004813 male germinal epithelium|epithelial tissue of seminiferous tubule of testis|testis germinal epithelium|epithelium of seminiferous tubule|epithelial tissue of seminiferous tubule|wall of seminiferous tubule|germinal epithelium (male)|seminiferous epithelium|seminiferous tubule epithelial tissue|epithelium of seminiferous tubule of testis HP:0100000 Early onset of sexual maturation biolink:PhenotypicFeature mondo UMLS:C4022392 An early onset of puberty, in this case early does not refer to precocious. http://purl.obolibrary.org/obo/HP_0100000 Early onset of sexual maturation UBERON:0004814 upper respiratory tract epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a upper respiratory tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004814 upper respiratory tract epithelial tissue|epithelium of upper respiratory tract|epithelial tissue of upper respiratory tract GO:0034613 cellular protein localization biolink:OntologyClass mondo Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/GO_0034613 channel localizer activity|cellular protein localisation GO:0010646 regulation of cell communication biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/GO_0010646 GO:0010647 positive regulation of cell communication biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/GO_0010647 CHEBI:140310 phenyl acetates biolink:ChemicalSubstance mondo An acetate ester obtained by formal condensation of the carboxy group of acetic acid with the hydroxy group of any phenol. http://purl.obolibrary.org/obo/CHEBI_140310 a phenyl acetate|phenyl acetate derivative|phenyl acetate derivatives GO:0010648 negative regulation of cell communication biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/GO_0010648 GO:0009653 anatomical structure morphogenesis biolink:OntologyClass mondo The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. http://purl.obolibrary.org/obo/GO_0009653 morphogenesis|anatomical structure organization|embryogenesis and morphogenesis UBERON:0004822 extrahepatic bile duct epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a extrahepatic bile duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004822 epithelial tissue of extrahepatic bile duct|epithelium of extrahepatic bile duct|extrahepatic bile duct epithelial tissue UBERON:0004823 intrahepatic bile duct epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a intrahepatic bile duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004823 epithelial tissue of intrahepatic bile duct|epithelium of intrahepatic bile duct|intrahepatic bile duct epithelial tissue UBERON:0004820 bile duct epithelium biolink:AnatomicalEntity mondo Any epithelium that lines one of the bile ducts. http://purl.obolibrary.org/obo/UBERON_0004820 epithelium of bile duct|epithelium of biliary duct|biliary duct epithelium UBERON:0004821 pulmonary alveolus epithelium biolink:AnatomicalEntity mondo The epithelial layer of the alveoli[MP]. The layer of cells covering the lining of the tiny air sacs at the end of the bronchioles[BTO]. http://purl.obolibrary.org/obo/UBERON_0004821 epithelial tissue of alveolus|epithelium of alveolus|pulmonary alveolus epithelium|pulmonary alveolar epithelium|alveolus epithelium|epithelium of pulmonary alveolus|alveolus epithelial tissue|alveolar epithelium HGNC:989 BCL10 biolink:OntologyClass mondo http://identifiers.org/hgnc/989 UBERON:0004808 gastrointestinal system epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004808 epithelium of gastrointestinal system|epithelial tissue of digestive system|digestive system epithelium|epithelial tissue of gastrointestinal system|epithelium of digestive system|gastrointestinal system epithelial tissue|digestive system epithelial tissue UBERON:0004809 salivary gland epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a salivary gland [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004809 epithelium of salivary gland|salivary gland epithelial tissue|epithelial tissue of salivary gland FOODON:03411347 obsolete: plant biolink:OntologyClass mondo A multicellular eukaryote organism of the kingdom Plantae. http://purl.obolibrary.org/obo/FOODON_03411347 UBERON:0004806 vas deferens epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a vas deferens [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004806 deferent duct epithelium|vas deferen epithelial tissue|vas deferens epithelial tissue|sperm duct epithelial tissue|sperm duct epithelium|epithelium of deferent duct|epithelium of ductus deferens|epithelial tissue of deferent duct|epithelial tissue of ductus deferens|vas deferen epithelium|epithelial tissue of vas deferens|deferent duct epithelial tissue|epithelial tissue of sperm duct|epithelium of vas deferen|ductus deferens epithelial tissue|epithelium of vas deferens|epithelium of sperm duct|ductus deferens epithelium|epithelial tissue of vas deferen UBERON:0004807 respiratory system epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004807 respiratory system epithelial tissue|apparatus respiratorius epithelium|epithelium of apparatus respiratorius|epithelial tissue of apparatus respiratorius|epithelial tissue of respiratory system|epithelium of respiratory system|apparatus respiratorius epithelial tissue UBERON:0004804 oviduct epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a oviduct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004804 columnar epithelium of the fallopian tube|oviduct epithelial tissue|epithelium of fallopian tube|fallopian tube epithelium|columnar epithelium of the oviduct|epithelium of oviduct|epithelium of uterine tube|epithelial tissue of oviduct GO:0007009 plasma membrane organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. http://purl.obolibrary.org/obo/GO_0007009 plasma membrane organization and biogenesis|plasma membrane organisation UBERON:0004805 seminal vesicle epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a seminal vesicle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004805 seminal vesicle epithelial tissue|epithelium of seminal gland|seminal gland epithelium|epithelial tissue of seminal gland|seminal gland epithelial tissue|epithelium of seminal vesicle|epithelial tissue of seminal vesicle UBERON:0004802 respiratory tract epithelium biolink:AnatomicalEntity mondo the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi http://purl.obolibrary.org/obo/UBERON_0004802 epithelium of respiratory tract|epithelial tissue of respiratory tract|respiratory epithelium|respiratory tract epithelial tissue|airway epithelium UBERON:0004803 penis epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a penis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004803 penis epithelial tissue|epithelium of penis|epithelial tissue of penis GO:0007006 mitochondrial membrane organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion. http://purl.obolibrary.org/obo/GO_0007006 mitochondrial membrane organisation|mitochondrial membrane organization and biogenesis GO:0007005 mitochondrion organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. http://purl.obolibrary.org/obo/GO_0007005 mitochondria organization|mitochondrion organization and biogenesis|mitochondrion organisation UBERON:0004811 endometrium epithelium biolink:AnatomicalEntity mondo An epithelium that is part of an endometrium [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004811 epithelium of tunica mucosa of endometrium|epithelium of endometrium|epithelial tissue of endometrium|endometrium epithelial tissue|uterine epithelium UBERON:0004812 male prepuce epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a prepuce of penis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004812 epithelium of foreskin|prepuce of penis epithelial tissue|prepuce epithelial tissue|epithelial tissue of penile prepuce|penile prepuce epithelium|epithelium of penile prepuce|foreskin epithelial tissue|epithelial tissue of prepuce of penis|epithelium of prepuce of penis|foreskin epithelium|prepuce epithelium|epithelium of prepuce|penile prepuce epithelial tissue|prepuce of penis epithelium|epithelial tissue of prepuce|epithelial tissue of foreskin GO:0022626 cytosolic ribosome biolink:OntologyClass mondo A ribosome located in the cytosol. http://purl.obolibrary.org/obo/GO_0022626 70S ribosome|80S ribosome UBERON:0004810 nephron tubule epithelium biolink:AnatomicalEntity mondo the cellular avascular layer of the renal tubule luminar surfaces http://purl.obolibrary.org/obo/UBERON_0004810 kidney tubule epithelium HP:0100022 Abnormality of movement biolink:PhenotypicFeature mondo MSH:D009069|UMLS:C0026650|SNOMEDCT_US:60342002 An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. http://purl.obolibrary.org/obo/HP_0100022 Movement disorder|Abnormality of movement|Unusual movement HGNC:970 BBS5 biolink:OntologyClass mondo http://identifiers.org/hgnc/970 GO:0022610 biological adhesion biolink:OntologyClass mondo The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. http://purl.obolibrary.org/obo/GO_0022610 GO:0010623 programmed cell death involved in cell development biolink:OntologyClass mondo The activation of endogenous cellular processes that result in the death of a cell as part of its development. http://purl.obolibrary.org/obo/GO_0010623 programmed cell death involved in development|developmental programmed cell death GO:0010628 positive regulation of gene expression biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_0010628 GO:0010629 negative regulation of gene expression biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_0010629 CHEBI:33299 alkaline earth molecular entity biolink:ChemicalSubstance mondo An alkaline earth molecular entity is a molecular entity containing one or more atoms of an alkaline earth metal. http://purl.obolibrary.org/obo/CHEBI_33299 alkaline-earth compounds|alkaline earth molecular entity|alkaline earth compounds|alkaline earth molecular entities GO:0022613 ribonucleoprotein complex biogenesis biolink:OntologyClass mondo A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. http://purl.obolibrary.org/obo/GO_0022613 RNA-protein complex biogenesis|ribonucleoprotein complex biogenesis and assembly UBERON:0004801 cervix epithelium biolink:AnatomicalEntity mondo An epithelium that is part of a uterine cervix [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004801 cervical epithelium|epithelium of cervix|cervical canal epithelium|cervical canal epithelial tissue|cervix epithelial tissue CHEBI:33290 food biolink:ChemicalSubstance mondo A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. http://purl.obolibrary.org/obo/CHEBI_33290 food materials|food material|food role|foodstuff|foods|foodstuffs GO:0009636 response to toxic substance biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. http://purl.obolibrary.org/obo/GO_0009636 detoxification response|toxin resistance|toxin susceptibility/resistance CHEBI:33292 fuel biolink:ChemicalSubstance mondo An energy-rich substance that can be transformed with release of usable energy. http://purl.obolibrary.org/obo/CHEBI_33292 HGNC:969 BBS4 biolink:OntologyClass mondo http://identifiers.org/hgnc/969 SO:0001026 genome biolink:SequenceFeature mondo A genome is the sum of genetic material within a cell or virion. http://purl.obolibrary.org/obo/SO_0001026 CHEBI:33295 diagnostic agent biolink:ChemicalSubstance mondo A substance administered to aid diagnosis of a disease. http://purl.obolibrary.org/obo/CHEBI_33295 diagnostic aid GO:0022618 ribonucleoprotein complex assembly biolink:OntologyClass mondo The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. http://purl.obolibrary.org/obo/GO_0022618 RNP complex assembly|RNA-protein complex assembly|protein-RNA complex assembly CHEBI:33296 alkali metal molecular entity biolink:ChemicalSubstance mondo A molecular entity containing one or more atoms of an alkali metal. http://purl.obolibrary.org/obo/CHEBI_33296 alkali metal molecular entities HGNC:967 BBS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/967 HGNC:987 BCKDHB biolink:OntologyClass mondo http://identifiers.org/hgnc/987 HP:0100037 Abnormality of the scalp hair biolink:PhenotypicFeature mondo UMLS:C4022384 An abnormality of the hair of head. http://purl.obolibrary.org/obo/HP_0100037 Abnormality of the scalp hair HGNC:986 BCKDHA biolink:OntologyClass mondo http://identifiers.org/hgnc/986 HP:0100035 Phonic tics biolink:PhenotypicFeature mondo MSH:D020323|UMLS:C0751901 Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. http://purl.obolibrary.org/obo/HP_0100035 Verbal tics|Vocal tics HP:0100033 Tics biolink:PhenotypicFeature mondo UMLS:C2169806 Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement. http://purl.obolibrary.org/obo/HP_0100033 Tic disorder|Tics GO:0022600 digestive system process biolink:OntologyClass mondo A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/GO_0022600 HP:0100034 Motor tics biolink:PhenotypicFeature mondo MSH:D020323|UMLS:C0751900 Movement-based tics affecting discrete muscle groups. http://purl.obolibrary.org/obo/HP_0100034 GO:0010639 negative regulation of organelle organization biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. http://purl.obolibrary.org/obo/GO_0010639 negative regulation of organelle organisation|negative regulation of organelle organization and biogenesis GO:0010638 positive regulation of organelle organization biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. http://purl.obolibrary.org/obo/GO_0010638 positive regulation of organelle organization and biogenesis|positive regulation of organelle organisation SO:0001019 copy_number_variation biolink:SequenceFeature mondo A variation that increases or decreases the copy number of a given region. http://purl.obolibrary.org/obo/SO_0001019 CNV|copy number variation|CNP|copy number polymorphism GO:0022601 menstrual cycle phase biolink:OntologyClass mondo The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur. http://purl.obolibrary.org/obo/GO_0022601 GO:0022604 regulation of cell morphogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. http://purl.obolibrary.org/obo/GO_0022604 negative regulation of cell shape and cell size|positive regulation of cell shape and cell size|regulation of cell shape and cell size GO:0022603 regulation of anatomical structure morphogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. http://purl.obolibrary.org/obo/GO_0022603 regulation of morphogenesis GO:0022607 cellular component assembly biolink:OntologyClass mondo The aggregation, arrangement and bonding together of a cellular component. http://purl.obolibrary.org/obo/GO_0022607 cell structure assembly|cellular component assembly at cellular level GO:0010608 posttranscriptional regulation of gene expression biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. http://purl.obolibrary.org/obo/GO_0010608 HGNC:952 BARD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/952 UBERON:0004859 eye gland biolink:AnatomicalEntity mondo A gland that is part of a eye. The eye is a compound unit which depending on the species may consist of an eyeballs plus associated ducts and integumentary structures. Eye glands therefore include the various types of lacrimal gland, the various types of apocrine and sebaceous glands associated with the eyelid. http://purl.obolibrary.org/obo/UBERON_0004859 gland of eye|eye-associated gland HGNC:951 NKX3-2 biolink:OntologyClass mondo http://identifiers.org/hgnc/951 HGNC:950 BAP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/950 UBERON:0004857 skeletal muscle connective tissue biolink:AnatomicalEntity mondo A connective tissue that surrounds a skeletal muscle tissue. http://purl.obolibrary.org/obo/UBERON_0004857 textus connectivus of skeletal muscle tissue|skeletal muscle tissue connective tissue|skeletal muscle tissue textus connectivus|skeletal muscle interstitum|skeletal muscle portion of connective tissue|textus connectivus of skeletal muscle|portion of connective tissue of skeletal muscle tissue|connective tissue of skeletal muscle tissue|skeletal muscle interstitial tissue|skeletal muscle tissue portion of connective tissue|portion of connective tissue of skeletal muscle|connective tissue of skeletal muscle|skeletal muscle textus connectivus OIO:hasSynonymType has_synonym_type biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#hasSynonymType GO:0010604 positive regulation of macromolecule metabolic process biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0010604 GO:0010605 negative regulation of macromolecule metabolic process biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0010605 GO:0046649 lymphocyte activation biolink:OntologyClass mondo A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0046649 GO:0009611 response to wounding biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. http://purl.obolibrary.org/obo/GO_0009611 physiological response to wounding UBERON:0002203 vasculature of eye biolink:AnatomicalEntity mondo Vasculature that is part of the eye region. http://purl.obolibrary.org/obo/UBERON_0002203 eye vascular network|ocular blood vessel|eye vasculature|ocular vasculature|optic vasculature|vascular network of eye UBERON:0002202 submucosa of trachea biolink:AnatomicalEntity mondo A submucosa that is part of a trachea. http://purl.obolibrary.org/obo/UBERON_0002202 submucous layer of trachea|submucosa of windpipe|tracheal submucosa|windpipe submucosa|trachea submucosa UBERON:0004867 orbital cavity biolink:AnatomicalEntity mondo Anatomical cavity bounded by the orbital region of the cranium and forming the location of some or all of the eye. http://purl.obolibrary.org/obo/UBERON_0004867 orbit UBERON:0004864 vasculature of retina biolink:AnatomicalEntity mondo A vasculature that is part of a retina [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004864 vasa sanguinea retinae|set of blood vessels of retina|retina vasculature|set of retinal blood vessels|retina vasculature of camera-type eye|retinal blood vessels set|retinal blood vessels|retinal vasculature UBERON:0002204 musculoskeletal system biolink:AnatomicalEntity mondo Anatomical system that consists of the muscular and skeletal systems. http://purl.obolibrary.org/obo/UBERON_0002204 musculo-skeletal system GO:0009617 response to bacterium biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. http://purl.obolibrary.org/obo/GO_0009617 response to bacteria UBERON:0004862 left lung alveolus biolink:AnatomicalEntity mondo An alveolus that is part of a left lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004862 alveolus of lobe of left lung|alveolus of left lung CHEBI:33273 polyatomic anion biolink:ChemicalSubstance mondo An anion consisting of more than one atom. http://purl.obolibrary.org/obo/CHEBI_33273 polyatomic anions UBERON:0002201 vasculature of trunk biolink:AnatomicalEntity mondo A vasculature that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002201 torso vascular network|trunk vascular network|vascular network of trunk|vascular network of torso|trunk vasculature|vasculature of torso|torso vasculature UBERON:0002200 vasculature of head biolink:AnatomicalEntity mondo Vasculature that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of adult head|head vascular network|vascular network of adult head|head vasculature|adult head vascular network|cranial vasculature|vascular network of head|adult head vasculature UBERON:0004861 right lung alveolus biolink:AnatomicalEntity mondo An alveolus that is part of a right lung [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004861 alveolus of right lung HGNC:966 BBS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/966 FOODON:03411301 algae biolink:OntologyClass mondo An informal term for a large, diverse group of photosynthetic eukaryotic organisms that are not necessarily closely related, and is thus polyphyletic. http://purl.obolibrary.org/obo/FOODON_03411301 UBERON:0004848 respiratory system arterial endothelium biolink:AnatomicalEntity mondo An endothelium of artery that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004848 artery endothelium of apparatus respiratorius|respiratory system artery endothelium|arterial endothelium of respiratory system|endothelium of artery of respiratory system|apparatus respiratorius artery endothelium|apparatus respiratorius endothelium of artery|endothelium of artery of apparatus respiratorius|arterial endothelium of apparatus respiratorius|apparatus respiratorius arterial endothelium|respiratory system endothelium of artery|artery endothelium of respiratory system UBERON:0004849 respiratory system venous endothelium biolink:AnatomicalEntity mondo An endothelium of vein that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004849 apparatus respiratorius venous endothelium|respiratory system endothelium of vein|vein endothelium of respiratory system|endothelium of vein of apparatus respiratorius|venous endothelium of apparatus respiratorius|respiratory system vein endothelium|venous endothelium of respiratory system|endothelium of vein of respiratory system|vein endothelium of apparatus respiratorius|apparatus respiratorius vein endothelium|apparatus respiratorius endothelium of vein GO:0046655 folic acid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. http://purl.obolibrary.org/obo/GO_0046655 vitamin B9 metabolism|folate metabolic process|vitamin M metabolic process|vitamin M metabolism|folate metabolism|folic acid metabolism|vitamin B9 metabolic process CHEBI:33286 agrochemical biolink:ChemicalSubstance mondo An agrochemical is a substance that is used in agriculture or horticulture. http://purl.obolibrary.org/obo/CHEBI_33286 agricultural chemicals|agrichemical|agrochemicals|agrichemicals CHEBI:33287 fertilizer biolink:ChemicalSubstance mondo A fertilizer is any substance that is added to soil or water to assist the growth of plants. http://purl.obolibrary.org/obo/CHEBI_33287 fertilizers|fertiliser CHEBI:33280 molecular messenger biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33280 chemical messenger CHEBI:33281 antimicrobial agent biolink:ChemicalSubstance mondo A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. http://purl.obolibrary.org/obo/CHEBI_33281 antibiotics|antimicrobial agents|antibiotic|Antibiotikum|antibiotique|antimicrobial|microbicide|Antibiotika|microbicides|antimicrobials UBERON:0004854 gastrointestinal system mesentery biolink:AnatomicalEntity mondo A mesentery that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004854 mesentery of digestive system|mesentery of gastrointestinal system|digestive system mesentery UBERON:0004851 aorta endothelium biolink:AnatomicalEntity mondo the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall http://purl.obolibrary.org/obo/UBERON_0004851 endothelium of trunk of aortic tree|trunk of systemic arterial tree endothelium|endothelium of adult aorta|adult aorta endothelium|trunk of aortic tree endothelium|aortic endothelium|endothelium of aorta|endothelium of trunk of systemic arterial tree CHEBI:33282 antibacterial agent biolink:ChemicalSubstance mondo A substance (or active part thereof) that kills or slows the growth of bacteria. http://purl.obolibrary.org/obo/CHEBI_33282 antibacterials|antibacterial agents|bactericide|bactericides GO:0009628 response to abiotic stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stress UBERON:0004852 cardiovascular system endothelium biolink:AnatomicalEntity mondo An endothelium that is part of the cardiovascular system. http://purl.obolibrary.org/obo/UBERON_0004852 endothelia|vascular endothelia CHEBI:33284 nutrient biolink:ChemicalSubstance mondo A nutrient is a food component that an organism uses to survive and grow. http://purl.obolibrary.org/obo/CHEBI_33284 nutrients CHEBI:33285 heteroorganic entity biolink:ChemicalSubstance mondo A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms. http://purl.obolibrary.org/obo/CHEBI_33285 organoelement compounds|heteroorganic entities UBERON:0004850 lymph node endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a lymph node [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004850 endothelium of lymph node HGNC:932 BAAT biolink:OntologyClass mondo http://identifiers.org/hgnc/932 FOODON:03411312 wheat plant biolink:OntologyClass mondo Wheat (*Triticum* spp.) is a domesticated grass from the Levant that is cultivated worldwide. Major cultivated species of wheat: * Common wheat or Bread wheat (*Triticum aestivum*) A hexaploid species that is the most widely cultivated in the world. * Durum (*Triticum durum*) The only tetraploid form of wheat widely used today, and the second most widely cultivated wheat. * Einkorn (*Triticum monococcum*) A diploid species with wild and cultivated variants. Domesticated at the same time as emmer wheat, but never reached the same importance. * Emmer (*Triticum dicoccon*) A tetraploid species, cultivated in ancient times but no longer in widespread use. * Spelt (*Triticum spelta*) Another hexaploid species cultivated in limited quantities. http://purl.obolibrary.org/obo/FOODON_03411312 HGNC:930 B4GALT7 biolink:OntologyClass mondo http://identifiers.org/hgnc/930 UBERON:0004835 epididymis smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a epididymis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004835 epididymis involuntary muscle|epididymis non-striated muscle|epididymis smooth muscle tissue|non-striated muscle of epididymis|involuntary muscle of epididymis|smooth muscle of epididymis|smooth muscle tissue of epididymis CHEBI:33253 nucleon biolink:ChemicalSubstance mondo Heavy nuclear particle: proton or neutron. http://purl.obolibrary.org/obo/CHEBI_33253 Nukleonen|nucleons|Nukleon|nucleon CHEBI:33256 primary amide biolink:ChemicalSubstance mondo A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/CHEBI_33256 primary amide|primary amides CHEBI:33259 elemental molecular entity biolink:ChemicalSubstance mondo A molecular entity all atoms of which have the same atomic number. http://purl.obolibrary.org/obo/CHEBI_33259 homoatomic molecular entity|homoatomic entity|homoatomic molecular entities GO:0071625 vocalization behavior biolink:OntologyClass mondo The behavior in which an organism produces sounds by a mechanism involving its respiratory system. http://purl.obolibrary.org/obo/GO_0071625 vocalisation behaviour GO:0071624 positive regulation of granulocyte chemotaxis biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. http://purl.obolibrary.org/obo/GO_0071624 GO:0071623 negative regulation of granulocyte chemotaxis biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. http://purl.obolibrary.org/obo/GO_0071623 GO:0071622 regulation of granulocyte chemotaxis biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. http://purl.obolibrary.org/obo/GO_0071622 GO:0071621 granulocyte chemotaxis biolink:OntologyClass mondo The movement of a granulocyte in response to an external stimulus. http://purl.obolibrary.org/obo/GO_0071621 CHEBI:33250 atom biolink:ChemicalSubstance mondo A chemical entity constituting the smallest component of an element having the chemical properties of the element. http://purl.obolibrary.org/obo/CHEBI_33250 atoms|atomus|atomo|element|elements|atom|atome HGNC:924 B4GALT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/924 CHEBI:33252 atomic nucleus biolink:ChemicalSubstance mondo A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. http://purl.obolibrary.org/obo/CHEBI_33252 nuclei|nucleo atomico|noyau atomique|noyau|nucleus atomi|nucleo|Atomkern|nucleus|Kern HGNC:923 B3GAT3 biolink:OntologyClass mondo http://identifiers.org/hgnc/923 FOODON:03411324 grain plant biolink:OntologyClass mondo Any grass cultivated (grown) for the edible components of its grain. http://purl.obolibrary.org/obo/FOODON_03411324 UBERON:0004829 urethra skeletal muscle tissue biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of a urethra [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004829 skeletal muscle of urethra|skeletal muscle tissue of urethra|urethral skeletal muscle|urethra skeletal muscle tissue|urethra skeletal muscle UBERON:0004827 thyroid gland medulla biolink:AnatomicalEntity mondo A medulla that is part of a thyroid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004827 thyroid follicle medulla|thyroid gland follicle medulla|thyroid medulla|medulla of thyroid follicle|medulla of thyroid gland|medulla of thyroid gland follicle|medulla of thyroid GO:0046676 negative regulation of insulin secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. http://purl.obolibrary.org/obo/GO_0046676 down regulation of insulin secretion|inhibition of insulin secretion|downregulation of insulin secretion|down-regulation of insulin secretion FOODON:03411328 goat biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03411328 caprine|Capra hircus Linnaeus, 1758 CHEBI:59871 D-alpha-amino acid zwitterion biolink:ChemicalSubstance mondo Zwitterionic form of a D-alpha-amino acid having an anionic carboxy group and a protonated amino group. http://purl.obolibrary.org/obo/CHEBI_59871 D-alpha-amino acid zwitterions|a D-alpha-amino acid CHEBI:33266 diatomic nitrogen biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33266 CHEBI:33267 elemental nitrogen biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33267 UBERON:0004833 lip skeletal muscle biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of a lip [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004833 skeletal muscle of lip|skeletal muscle tissue of lip|lip skeletal muscle tissue UBERON:0004834 hepatic duct smooth muscle biolink:AnatomicalEntity mondo Smooth muscle tissue in all or part of a hepatic duct. http://purl.obolibrary.org/obo/UBERON_0004834 UBERON:0004831 esophagus skeletal muscle biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004831 esophagus skeletal muscle tissue|skeletal muscle of esophagus HGNC:939 BAG3 biolink:OntologyClass mondo http://identifiers.org/hgnc/939 UBERON:0004832 anal region skeletal muscle biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of an anal region [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004832 anal part of perineum skeletal muscle|skeletal muscle tissue of anal region|anal region skeletal muscle tissue|skeletal muscle of anal triangle|anal part of perineum skeletal muscle tissue|skeletal muscle of anal part of perineum|anal triangle skeletal muscle tissue|skeletal muscle of anal region|skeletal muscle tissue of anal triangle|skeletal muscle tissue of anal part of perineum|anal triangle skeletal muscle GO:0009605 response to external stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/GO_0009605 response to environmental stimulus SO:0001059 sequence_alteration biolink:SequenceFeature mondo A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. http://purl.obolibrary.org/obo/SO_0001059 partially characterised change in DNA sequence|partially_characterised_change_in_DNA_sequence|INSDC_note:sequence_alteration|uncharacterised_change_in_nucleotide_sequence|sequence variation|INSDC_feature:misc_feature|sequence alteration|INSDC_feature:variation UBERON:0004830 respiratory system skeletal muscle biolink:AnatomicalEntity mondo A portion of skeletal muscle tissue that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004830 skeletal muscle of respiratory system|skeletal muscle tissue of apparatus respiratorius|skeletal muscle tissue of respiratory system|skeletal muscle of apparatus respiratorius|respiratory system skeletal muscle tissue GO:0009607 response to biotic stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/GO_0009607 response to biotic stress CHEBI:33261 organosulfur compound biolink:ChemicalSubstance mondo An organosulfur compound is a compound containing at least one carbon-sulfur bond. http://purl.obolibrary.org/obo/CHEBI_33261 organosulfur compounds|organosulfur compound CHEBI:33262 elemental oxygen biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33262 CHEBI:33263 diatomic oxygen biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33263 GO:0007076 mitotic chromosome condensation biolink:OntologyClass mondo The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells. http://purl.obolibrary.org/obo/GO_0007076 MONDO:0054581 Townes-Brocks syndrome 1 biolink:Disease mondo OMIM:107480 http://identifiers.org/omim/107480 http://purl.obolibrary.org/obo/MONDO_0054581 rear syndrome|TBS1|renal-ear-anal-radial syndrome|Townes-Brocks syndrome 1; TBS1|anus, imperforate, with hand, Foot, and Ear anomalies|Townes-Brocks-branchiootorenal-like syndrome|deafness, sensorineural, with imperforate anus and thumb anomalies MONDO:0054582 Townes-Brocks syndrome 2 biolink:Disease mondo OMIM:617466 http://identifiers.org/omim/617466 http://purl.obolibrary.org/obo/MONDO_0054582 Townes-Brocks syndrome 2; TBS2|TBS2 MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 biolink:Disease mondo OMIM:617506 http://identifiers.org/omim/617506 http://purl.obolibrary.org/obo/MONDO_0054588 NSLH2|Noonan syndrome-like disorder with loose anagen hair 2; NSLH2 GO:0007088 regulation of mitotic nuclear division biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of mitosis. http://purl.obolibrary.org/obo/GO_0007088 regulation of mitosis HP:0031797 Clinical course biolink:PhenotypicFeature mondo The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. http://purl.obolibrary.org/obo/HP_0031797 Natural history of disease MONDO:0054573 Lopes-Maciel-Rodan syndrome biolink:Disease mondo OMIM:617435|UMLS:C4479491 http://identifiers.org/omim/617435|UMLS:C4479491 http://purl.obolibrary.org/obo/MONDO_0054573 LOMARS|Lopes-Maciel-Rodan syndrome; LOMARS GO:0032024 positive regulation of insulin secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. http://purl.obolibrary.org/obo/GO_0032024 upregulation of insulin secretion|up-regulation of insulin secretion|up regulation of insulin secretion|activation of insulin secretion|stimulation of insulin secretion MONDO:0054577 bleeding disorder, platelet-type, 21 biolink:Disease mondo OMIM:617443 http://identifiers.org/omim/617443 http://purl.obolibrary.org/obo/MONDO_0054577 BDPLT21|bleeding disorder, platelet-type, 21; BDPLT21 HGNC:27288 ACSF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/27288 GO:0007059 chromosome segregation biolink:OntologyClass mondo The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. http://purl.obolibrary.org/obo/GO_0007059 chromosome transmission|chromosome division CHEBI:60895 D-alpha-amino acid anion biolink:ChemicalSubstance mondo Any alpha-amino acid anion in which the parent amino acid has D-configuration. http://purl.obolibrary.org/obo/CHEBI_60895 D-alpha-amino acid anions|D-alpha-amino carboxylate MONDO:0054591 Stankiewicz-Isidor syndrome biolink:Disease mondo OMIM:617516|UMLS:C4479599 http://identifiers.org/omim/617516|UMLS:C4479599 http://purl.obolibrary.org/obo/MONDO_0054591 Stankiewicz-Isidor syndrome; STISS|STISS MONDO:0054593 microcephaly 18, primary, autosomal dominant biolink:Disease mondo DOID:0070295|OMIM:617520|UMLS:C4479608 http://identifiers.org/omim/617520|DOID:0070295|UMLS:C4479608 http://purl.obolibrary.org/obo/MONDO_0054593 MCPH18|microcephaly 18, primary, autosomal dominant; MCPH18|primary autosomal dominant microcephaly 18 ENVO:00010505 aerosol biolink:OntologyClass mondo Airborne solid particles (also called dust or particulate matter (PM)) or liquid droplets. http://purl.obolibrary.org/obo/ENVO_00010505 FOODON:03411374 crustacean biolink:OntologyClass mondo Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean] http://purl.obolibrary.org/obo/FOODON_03411374 GO:0007036 vacuolar calcium ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings. http://purl.obolibrary.org/obo/GO_0007036 ENVO:00010504 surface layer biolink:OntologyClass mondo A layer of some material entity which is adjacent to one or more of its external boundaries and directly interacts with its immediate surroundings. http://purl.obolibrary.org/obo/ENVO_00010504 GO:0007034 vacuolar transport biolink:OntologyClass mondo The directed movement of substances into, out of or within a vacuole. http://purl.obolibrary.org/obo/GO_0007034 GO:0007041 lysosomal transport biolink:OntologyClass mondo The directed movement of substances into, out of or within a lysosome. http://purl.obolibrary.org/obo/GO_0007041 GO:0034650 cortisol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. http://purl.obolibrary.org/obo/GO_0034650 cortisol metabolism GO:0034651 cortisol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. http://purl.obolibrary.org/obo/GO_0034651 cortisol formation|cortisol anabolism|cortisol synthesis|cortisol biosynthesis GO:0034654 nucleobase-containing compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0034654 nucleobase, nucleoside, nucleotide and nucleic acid formation|nucleobase, nucleoside, nucleotide and nucleic acid synthesis|nucleobase, nucleoside, nucleotide and nucleic acid anabolism|nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis GO:0034655 nucleobase-containing compound catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0034655 nucleobase, nucleoside, nucleotide and nucleic acid breakdown|nucleobase, nucleoside, nucleotide and nucleic acid catabolism|nucleobase, nucleoside, nucleotide and nucleic acid catabolic process|nucleobase, nucleoside, nucleotide and nucleic acid degradation GO:0007049 cell cycle biolink:OntologyClass mondo The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. http://purl.obolibrary.org/obo/GO_0007049 cell-division cycle OBO:so#has_quality has_quality biolink:OntologyClass mondo http://purl.obolibrary.org/obo/so#has_quality GO:0034641 cellular nitrogen compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolism GO:0034644 cellular response to UV biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. http://purl.obolibrary.org/obo/GO_0034644 cellular response to UV light stimulus|cellular response to ultraviolet light stimulus|cellular response to UV radiation stimulus|cellular response to ultraviolet radiation stimulus GO:0034645 cellular macromolecule biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0034645 cellular macromolecule anabolism|cellular macromolecule biosynthesis|cellular macromolecule synthesis|cellular biopolymer biosynthetic process|cellular macromolecule formation MONDO:0054559 congenital disorder of glycosylation, type IIq biolink:Disease mondo OMIM:617395|DOID:0070269 DOID:0070269|http://identifiers.org/omim/617395 http://purl.obolibrary.org/obo/MONDO_0054559 CDG2Q|congenital disorder of glycosylation, type IIq; CDG2Q|CDG Iiq GO:0007018 microtubule-based movement biolink:OntologyClass mondo A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/GO_0007018 GO:0007017 microtubule-based process biolink:OntologyClass mondo Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/GO_0007017 GO:0010669 epithelial structure maintenance biolink:OntologyClass mondo A tissue homeostatic process required for the maintenance of epithelial structure. http://purl.obolibrary.org/obo/GO_0010669 GO:0007010 cytoskeleton organization biolink:OntologyClass mondo A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/GO_0007010 cytoskeleton organization and biogenesis|cytoskeletal regulator activity|cytoskeleton organisation|cytoskeletal organization and biogenesis MONDO:0054561 anauxetic dysplasia 2 biolink:Disease mondo OMIM:617396 http://identifiers.org/omim/617396 http://purl.obolibrary.org/obo/MONDO_0054561 anauxetic dysplasia 2; ANXD2|ANXD2 MONDO:0054560 anauxetic dysplasia 1 biolink:Disease mondo OMIM:607095 http://identifiers.org/omim/607095 http://purl.obolibrary.org/obo/MONDO_0054560 spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia, anauxetic type|anauxetic dysplasia|spondyloepimetaphyseal dysplasia, anauxetic type|ANXD1|anauxetic dysplasia 1; ANXD1 MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly biolink:Disease mondo OMIM:617405 http://identifiers.org/omim/617405 http://purl.obolibrary.org/obo/MONDO_0054565 SRTD17|short-rib thoracic dysplasia 17 with or without POLYDACTYLY; SRTD17 MONDO:0054549 peroxisome biogenesis disorder 10b biolink:Disease mondo OMIM:617370 http://identifiers.org/omim/617370 http://purl.obolibrary.org/obo/MONDO_0054549 peroxisome biogenesis disorder 10B; PBD10B|PBD10B GO:0010677 negative regulation of cellular carbohydrate metabolic process biolink:OntologyClass mondo Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0010677 GO:0010678 negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated biolink:OntologyClass mondo Any cellular process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates carried out by repression of transcription. http://purl.obolibrary.org/obo/GO_0010678 negative regulation of cellular carbohydrate metabolic process by transcriptional repression|negative regulation of cellular carbohydrate metabolic process by repression of transcription|negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-dependent GO:0010672 regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0010672 regulation of meiosis by regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter, meiotic GO:0010675 regulation of cellular carbohydrate metabolic process biolink:OntologyClass mondo Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0010675 GO:0010676 positive regulation of cellular carbohydrate metabolic process biolink:OntologyClass mondo Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0010676 GO:0010673 positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0010673 up-regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|activation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, meiotic|stimulation of meiosis by positive regulation of transcription from RNA polymerase II promoter GO:0034622 cellular protein-containing complex assembly biolink:OntologyClass mondo The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/GO_0034622 cellular protein complex assembly|cellular macromolecule complex assembly GO:0010674 negative regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0010674 stimulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up-regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, meiotic|positive regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|activation of meiosis by negative regulation of transcription from RNA polymerase II promoter MONDO:0054551 avascular necrosis of femoral head, primary, 2 biolink:Disease mondo OMIM:617383 http://identifiers.org/omim/617383 http://purl.obolibrary.org/obo/MONDO_0054551 avascular necrosis of femoral head, primary, 2; ANFH2|ANFH2 MONDO:0054550 avascular necrosis of femoral head, primary, 1 biolink:Disease mondo OMIM:608805 http://identifiers.org/omim/608805 http://purl.obolibrary.org/obo/MONDO_0054550 femoral head, aseptic necrosis of|osteonecrosis of femoral head|ANFH1|avascular necrosis of femoral head, primary, 1; ANFH1|ischemic necrosis of femoral head|Femoral head, avascular necrosis of HGNC:30892 HUWE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30892 MONDO:0003029 skin angiosarcoma biolink:Disease mondo UMLS:C0346081|DOID:4517|NCIT:C4489|SCTID:254794007 A malignant vascular neoplasm arising from the skin. UMLS:C0346081|NCIT:C4489|DOID:4517|SNOMEDCT:254794007 http://purl.obolibrary.org/obo/MONDO_0003029 skin hemangiosarcoma|hemangiosarcoma of the skin|angiosarcoma (disease) of zone of skin|angiosarcoma of skin|hemangiosarcoma of skin|angiosarcoma of the skin|skin angiosarcoma|zone of skin angiosarcoma (disease) MONDO:0054615 spermatogenic failure 18 biolink:Disease mondo DOID:0070165|OMIM:617576 http://identifiers.org/omim/617576|DOID:0070165 http://purl.obolibrary.org/obo/MONDO_0054615 spermatogenic failure 18; SPGF18|SPGF18 HGNC:9060 PLCD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9060 MONDO:0003025 conventional angiosarcoma biolink:Disease mondo NCIT:C9426|DOID:4512|UMLS:C1333155 An angiosarcoma characterized by the presence of malignant spindle endothelial cells. UMLS:C1333155|NCIT:C9426|DOID:4512 http://purl.obolibrary.org/obo/MONDO_0003025 conventional angiosarcoma MONDO:0005688 campylobacteriosis biolink:Disease mondo SCTID:86500004|EFO:0007190|DOID:13622|MESH:D002169|UMLS:C0006818 Infections with bacteria of the genus campylobacter. MESH:D002169|DOID:13622|UMLS:C0006818|SNOMEDCT:86500004 http://purl.obolibrary.org/obo/MONDO_0005688 MONDO:0005687 Caliciviridae infectious disease biolink:Disease mondo EFO:0007189|MESH:D017250 Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. MESH:D017250 http://purl.obolibrary.org/obo/MONDO_0005687 infection, Caliciviridae|infection, Calicivirus|Calicivirus infections|Caliciviridae infection|Calicivirus infection|infections, Caliciviridae|infections, Calicivirus MONDO:0003026 gallbladder angiosarcoma biolink:Disease mondo NCIT:C5840|DOID:4513|UMLS:C1333742 An angiosarcoma that is located in the gallbladder. NCIT:C5840|UMLS:C1333742|DOID:4513 http://purl.obolibrary.org/obo/MONDO_0003026 angiosarcoma of gallbladder|hemangiosarcoma of gallbladder|gallbladder angiosarcoma|angiosarcoma (disease) of gall bladder|gall bladder angiosarcoma (disease)|gallbladder hemangiosarcoma|hemangiosarcoma of the gallbladder|angiosarcoma of the gallbladder MONDO:0003027 thyroid gland angiosarcoma biolink:Disease mondo UMLS:C1336748|NCIT:C6043|DOID:4514 A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter. UMLS:C1336748|DOID:4514|NCIT:C6043 http://purl.obolibrary.org/obo/MONDO_0003027 thyroid angiosarcoma|thyroid gland angiosarcoma|angiosarcoma of the thyroid gland|hemangiosarcoma of the thyroid gland|thyroid gland hemangiosarcoma|hemangiosarcoma of the thyroid|angiosarcoma of thyroid gland|hemangiosarcoma of thyroid gland|angiosarcoma of the thyroid|thyroid hemangiosarcoma|angiosarcoma of thyroid|hemangiosarcoma of thyroid|thyroid gland angiosarcoma (disease)|angiosarcoma (disease) of thyroid gland|thyroid gland malignant hemangioendothelioma MONDO:0003028 thyroid sarcoma biolink:Disease mondo NCIT:C6041|DOID:4515|UMLS:C1336756|EFO:1001971 A malignant soft tissue neoplasm primarily involving the thyroid gland. UMLS:C1336756|DOID:4515|NCIT:C6041 http://purl.obolibrary.org/obo/MONDO_0003028 sarcoma of thyroid gland|sarcoma of the thyroid gland|thyroid sarcoma|sarcoma of the thyroid|sarcoma of thyroid|thyroid gland sarcoma MONDO:0005689 cannabis dependence biolink:Disease mondo DOID:9505|ICD10:F12.1|MESH:D002189|NCIT:C34445|SCTID:85005007|ICD10:F12|EFO:0007191|ICD9:305.2|ICD9:304.30|ICD10:F12.2|DOID:1849|ICD9:304.3|SCTID:37344009 Physical and psychological dependence on the drug cannabis. MESH:D002189|SNOMEDCT:85005007|NCIT:C34445|SNOMEDCT:37344009|DOID:9505|DOID:1849 http://purl.obolibrary.org/obo/MONDO_0005689 cannabis abuse|marijuana abuse|marijuana dependence MONDO:0003021 central nervous system angiosarcoma biolink:Disease mondo DOID:4504|UMLS:C1332875|NCIT:C5450 A malignant vascular neoplasm arising from the brain, spinal cord or meninges. UMLS:C1332875|DOID:4504|NCIT:C5450 http://purl.obolibrary.org/obo/MONDO_0003021 central nervous system angiosarcoma (disease)|angiosarcoma of central nervous system|hemangiosarcoma of central nervous system|angiosarcoma of the central nervous system|hemangiosarcoma of the central nervous system|hemangiosarcoma of the CNS|central nervous system hemangiosarcoma|CNS angiosarcoma|central nervous system angiosarcoma|angiosarcoma of the CNS|CNS hemangiosarcoma|angiosarcoma of CNS|hemangiosarcoma of CNS|angiosarcoma (disease) of central nervous system MONDO:0005684 bulbar polio biolink:Disease mondo MESH:D011052|UMLS:C0032372|ICD9:045.0|EFO:0007186|DOID:9786 A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765) MESH:D011052|DOID:9786|UMLS:C0032372 http://purl.obolibrary.org/obo/MONDO_0005684 poliomyelitis, medullary involvement|medullary involvement poliomyelitis|bulbar poliomyelitis|polio, bulbar|bulbar polio MONDO:0003022 pediatric angiosarcoma biolink:Disease mondo UMLS:C0279988|DOID:4505|NCIT:C9174 An angiosarcoma occurring in childhood. NCIT:C9174|UMLS:C0279988|DOID:4505 http://purl.obolibrary.org/obo/MONDO_0003022 childhood angiosarcoma (disease)|childhood angiosarcoma|childhood hemangiosarcoma|pediatric angiosarcoma (disease)|pediatric hemangiosarcoma|angiosarcoma (disease) of childhood|pediatric angiosarcoma|pediatric angiosarcoma (disease)|angiosarcoma MONDO:0005683 brucellosis biolink:Disease mondo ICD10:A23.3|ICD10:A23.9|ICD10:A23.2|Orphanet:1304|ICD10:A23.1|MedDRA:10006500|ICD10:A23.0|DOID:11077|UMLS:C0006309|GARD:0005966|SCTID:75702008|COHD:441497|ICD9:023|ICD9:023.9|MESH:D002006|NCIT:C84602|ICD10:A23.8|ICD10:A23|EFO:0007185 Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases. SNOMEDCT:75702008|ORPHA:1304|MEDDRA:10006500|UMLS:C0006309|DOID:11077|NCIT:C84602|MESH:D002006 http://purl.obolibrary.org/obo/MONDO_0005683 Cyprus fever|bang's disease|Rock fever|undulant fever|Gibraltar fever|Mediterranean fever|Malta fever|Maltese fever ordo_disease|gard_rare MONDO:0003023 aorta angiosarcoma biolink:Disease mondo NCIT:C5376|UMLS:C1332312|DOID:4510 A malignant vascular neoplasm arising from the aorta. UMLS:C1332312|DOID:4510|NCIT:C5376 http://purl.obolibrary.org/obo/MONDO_0003023 aortic angiosarcoma|angiosarcoma of the aorta|hemangiosarcoma of the aorta|angiosarcoma of aorta|hemangiosarcoma of aorta|angiosarcoma (disease) of aorta|aorta angiosarcoma (disease)|aortic hemangiosarcoma MONDO:0005686 obsolete Bunyaviridae infectious disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005686 MONDO:0005685 obsolete bullous pemphigoid biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005685 MONDO:0003024 breast angiosarcoma biolink:Disease mondo MESH:C536368|DOID:4511|NCIT:C5184|UMLS:C1332614|ONCOTREE:BA|GARD:0009974 A malignant vascular neoplasm arising from the breast. UMLS:C1332614|MESH:C536368|DOID:4511|NCIT:C5184 http://purl.obolibrary.org/obo/MONDO_0003024 BA|breast hemangiosarcoma|breast angiosarcoma (disease)|angiosarcoma (disease) of breast|angiosarcoma of breast|hemangiosarcoma of breast|angiosarcoma of the breast|breast angiosarcoma|hemangiosarcoma of the breast gard_rare MONDO:0005680 Brill-Zinsser disease biolink:Disease mondo UMLS:C0006181|EFO:0007182|DOID:11254|ICD10:A75.1|SCTID:47761007|Orphanet:99990|ICD9:081.1 A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii. ORPHA:99990|SNOMEDCT:47761007|UMLS:C0006181|DOID:11254 http://purl.obolibrary.org/obo/MONDO_0005680 latent typhus|sporadic typhus|Brill's disease|Brill disease|recrudescent typhus|Brill Zinsser disease ordo_clinical_subtype MONDO:0005682 bronchopneumonia biolink:Disease mondo EFO:0007184|SCTID:396285007|ICD9:485|COHD:256722|DOID:12375|NCIT:C26710|UMLS:C0006285|MESH:D001996|ICD10:J18.0 Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain. SNOMEDCT:396285007|MESH:D001996|UMLS:C0006285|DOID:12375|NCIT:C26710 http://purl.obolibrary.org/obo/MONDO_0005682 lobular pneumonia|chest infection - bronchopneumonia|bronchial pneumonia|chest infection - unspecified bronchopneumonia MONDO:0003020 obsolete orofaciodigital syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003020 MONDO:0005681 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005681 MONDO:0015018 ichthyosis, congenital, autosomal recessive 12 biolink:Disease mondo OMIM:617320|UMLS:C4310621 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene. UMLS:C4310621|http://identifiers.org/omim/617320 http://purl.obolibrary.org/obo/MONDO_0015018 ichthyosis, congenital, autosomal recessive 12|ichthyosis, congenital, autosomal recessive 12; ARCI12|ichthyosis, congenital, autosomal recessive type 12|ARCI12 HP:0031703 Abnormal ear morphology biolink:PhenotypicFeature mondo Fyler:4867 Any structural anomaly of the ear. http://purl.obolibrary.org/obo/HP_0031703 MONDO:0015017 anterior segment dysgenesis 8 biolink:Disease mondo UMLS:C4310622|OMIM:617319 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene. UMLS:C4310622|http://identifiers.org/omim/617319 http://purl.obolibrary.org/obo/MONDO_0015017 anterior segment dysgenesis caused by mutation in CPAMD8|anterior segment dysgenesis 8; ASGD8|anterior segment dysgenesis 8|anterior segment dysgenesis type 8|ASGD8|CPAMD8 anterior segment dysgenesis MONDO:0015016 anterior segment dysgenesis 6 biolink:Disease mondo UMLS:C4310623|OMIM:617315 UMLS:C4310623|http://identifiers.org/omim/617315 http://purl.obolibrary.org/obo/MONDO_0015016 anterior segment dysgenesis 6; ASGD6|ASGD6|anterior segment dysgenesis 6|anterior segment dysgenesis type 6 HP:0031704 Abnormal ear physiology biolink:PhenotypicFeature mondo Any functional anomaly of the ear. http://purl.obolibrary.org/obo/HP_0031704 MONDO:0015015 congenital bile acid synthesis defect 6 biolink:Disease mondo UMLS:C4310624|DOID:0111067|OMIM:617308 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene. UMLS:C4310624|DOID:0111067|http://identifiers.org/omim/617308 http://purl.obolibrary.org/obo/MONDO_0015015 bile acid synthesis defect, congenital, 6|congenital bile acid synthesis defect type 6|ACOX2 congenital bile acid synthesis defect|bile acid synthesis defect, congenital, 6; CBAS6|congenital bile acid synthesis defect caused by mutation in ACOX2|bile acid synthesis defect, congenital, type 6|CBAS6 MONDO:0017677 focal acral hyperkeratosis biolink:Disease mondo Orphanet:308013|SCTID:400115004|ICD10:Q82.8|UMLS:C1302839 SNOMEDCT:400115004|UMLS:C1302839|ORPHA:308013 http://purl.obolibrary.org/obo/MONDO_0017677 PPPK3 without elastoidosis|PPKP3 without elastoidosis|punctate palmoplantar keratoderma type 3 without elastoidosis|punctate palmoplantar hyperkeratosis type 3 without elastoidosis ordo_disease MONDO:0017678 obsolete disease with punctate palmoplantar keratoderma as a major feature biolink:Disease mondo Orphanet:308023|UMLS:CN203565 A disease in which punctate palmoplantar keratoderma is a major feature.. ORPHA:308023 http://purl.obolibrary.org/obo/MONDO_0017678 disease with punctate palmoplantar hyperkeratosis as a major feature NCBITaxon:58839 Encephalitozoon intestinalis organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_58839 Septata intestinalis MONDO:0017679 obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature biolink:Disease mondo Orphanet:308031|UMLS:CN203566 UMLS:CN203566|ORPHA:308031 http://purl.obolibrary.org/obo/MONDO_0017679 autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature MONDO:0015019 susceptibility to Yao syndrome biolink:Disease mondo OMIM:617321|UMLS:C4310620|SCTID:768667002 UMLS:C4310620|http://identifiers.org/omim/617321|SNOMEDCT:768667002 http://purl.obolibrary.org/obo/MONDO_0015019 YAOS|Yao syndrome predisposition MONDO:0017673 isolated focal palmoplantar keratoderma biolink:Disease mondo Orphanet:307846|ICD10:Q82.8 A focal palmoplantar keratoderma that is not part of a larger syndrome. ORPHA:307846 http://purl.obolibrary.org/obo/MONDO_0017673 isolated focal keratosis palmoplantaris|isolated focal palmoplantar hyperkeratosis|nonsyndromic focal palmoplantar keratoderma|isolated focal PPK ordo_group_of_disorders MONDO:0015010 atypical glycine encephalopathy biolink:Disease mondo Orphanet:289863|ICD10:E72.5|UMLS:C4310943|OMIM:617301 Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE. UMLS:C4310943|http://identifiers.org/omim/617301|ORPHA:289863 http://purl.obolibrary.org/obo/MONDO_0015010 atypical NKA|Glycine encephalopathy with normal serum Glycine|GLYCINE encephalopathy with normal serum GLYCINE|atypical non-ketotic hyperglycinemia ordo_clinical_subtype HGNC:9067 PLD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9067 MONDO:0017674 disease with focal palmoplantar keratoderma as a major feature biolink:Disease mondo UMLS:CN203558|ICD10:Q82.8|Orphanet:307871 A disease in which focal palmoplantar keratoderma is a major feature.. UMLS:CN203558|ORPHA:307871 http://purl.obolibrary.org/obo/MONDO_0017674 disease with focal palmoplantar hyperkeratosis as a major feature ordo_group_of_disorders|obsoletion_candidate MONDO:0017675 punctate palmoplantar keratoderma biolink:Disease mondo SCTID:402773000|Orphanet:307967|DOID:0060361|ICD10:Q82.8|UMLS:C4024851 A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. ORPHA:307967|DOID:0060361|UMLS:C1274216|SNOMEDCT:402773000|UMLS:C4024851 http://purl.obolibrary.org/obo/MONDO_0017675 punctate PPK|punctate keratosis palmoplantaris|punctate palmoplantar hyperkeratosis ordo_group_of_disorders MONDO:0017676 marginal papular palmoplantar keratoderma biolink:Disease mondo ICD10:Q82.8|Orphanet:307995 ORPHA:307995 http://purl.obolibrary.org/obo/MONDO_0017676 marginal papular palmoplantar hyperkeratosis ordo_group_of_disorders HGNC:9066 PLCG2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9066 MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness biolink:Disease mondo OMIM:617306|UMLS:C4310625 UMLS:C4310625|http://identifiers.org/omim/617306 http://purl.obolibrary.org/obo/MONDO_0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness|coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD|COMMAD MONDO:0015013 retinitis pigmentosa 77 biolink:Disease mondo OMIM:617304|DOID:0080350|ICD10CM:H35.5|UMLS:C4310626 Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene. UMLS:C4310626|DOID:0080350|http://identifiers.org/omim/617304 http://purl.obolibrary.org/obo/MONDO_0015013 retinitis pigmentosa caused by mutation in REEP6|RP77|retinitis pigmentosa type 77|REEP6 retinitis pigmentosa|retinitis pigmentosa 77 MONDO:0017670 autosomal dominant diffuse mutilating palmoplantar keratoderma biolink:Disease mondo ICD10:Q82.8|UMLS:CN229100|Orphanet:307773 UMLS:CN229100|ORPHA:307773 http://purl.obolibrary.org/obo/MONDO_0017670 autosomal dominant diffuse mutilating palmoplantar hyperkeratosis ordo_group_of_disorders MONDO:0017671 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature biolink:Disease mondo UMLS:CN203557|Orphanet:307804|ICD10:Q82.8 UMLS:CN203557|ORPHA:307804 http://purl.obolibrary.org/obo/MONDO_0017671 autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature ordo_group_of_disorders|obsoletion_candidate MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders biolink:Disease mondo OMIM:617303|UMLS:C4310627|Orphanet:505248 UMLS:C4310627|http://identifiers.org/omim/617303|ORPHA:505248 http://purl.obolibrary.org/obo/MONDO_0015012 MPSPS|mucopolysaccharidosis-plus syndrome|mucopolysaccharidosis-plus syndrome; MPSPS|mucopolysaccharidosis-like plus disease ordo_malformation_syndrome HGNC:9069 PLEC biolink:OntologyClass mondo http://identifiers.org/hgnc/9069 MONDO:0015011 optic atrophy 11 biolink:Disease mondo UMLS:CN230145|OMIM:617302|UMLS:C4310628 Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene. UMLS:C4310628|UMLS:CN230145|http://identifiers.org/omim/617302 http://purl.obolibrary.org/obo/MONDO_0015011 optic atrophy 11|YME1L1 autosomal recessive isolated optic atrophy|OPA11|optic atrophy type 11|autosomal recessive isolated optic atrophy caused by mutation in YME1L1 MONDO:0017672 focal palmoplantar keratoderma biolink:Disease mondo Orphanet:307837|ICD10:Q82.8 ORPHA:307837 http://purl.obolibrary.org/obo/MONDO_0017672 focal palmoplantar hyperkeratosis|focal PPK|focal keratosis palmoplantaris ordo_group_of_disorders HGNC:9071 PLG biolink:OntologyClass mondo http://identifiers.org/hgnc/9071 MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 biolink:Disease mondo UMLS:C4479640|OMIM:617542 UMLS:C4479640|http://identifiers.org/omim/617542 http://purl.obolibrary.org/obo/MONDO_0054602 HGPPS2|gaze palsy, familial horizontal, with progressive scoliosis, 2; HGPPS2 MONDO:0054601 pituitary adenoma 5, multiple types biolink:Disease mondo UMLS:C4539685|OMIM:617540 UMLS:C4539685|http://identifiers.org/omim/617540 http://purl.obolibrary.org/obo/MONDO_0054601 PITA5|pituitary adenoma 5, multiple types; PITA5 MONDO:0003036 mucoepidermoid carcinoma biolink:Disease mondo NCIT:C3772|EFO:1001049|ONCOTREE:MUCC|MESH:D018298|MESH:D018277|GARD:0010671|DOID:4531|ICDO:8430/3|ICDO:8430/1|UMLS:C0206694 A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade. NCIT:C3772|DOID:4531|UMLS:C0206694|MESH:D018277|MESH:D018298 http://purl.obolibrary.org/obo/MONDO_0003036 MUCC|tumor, mucoepidermoid|mucoepidermoid carcinoma|mucoepidermoid tumors|tumors, mucoepidermoid|MEC|mucoepidermoid tumor|mucoepidermoid carcinoma (morphologic abnormality) gard_rare MONDO:0005699 cervicofacial actinomycosis biolink:Disease mondo MESH:D000197|UMLS:C0001264|ICD9:039.3|NCIT:C34351|EFO:0007203|ICD10:A42.2|SCTID:23014006 A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses. UMLS:C0001264|MESH:D000197|NCIT:C34351|SNOMEDCT:23014006 http://purl.obolibrary.org/obo/MONDO_0005699 lumpy jaw|cervicofacial actinomycotic infection MONDO:0005698 cervical incompetence biolink:Disease mondo DOID:9681|ICD9:654.50|ICD9:622.5|SCTID:17382005|EFO:0007202|MESH:D002581|ICD10:N88.3 A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis. MESH:D002581|SNOMEDCT:17382005|NCIT:C50607|DOID:9681 http://purl.obolibrary.org/obo/MONDO_0005698 MONDO:0003037 hypotrichosis biolink:Disease mondo SCTID:53602002|ICD9:704.09|DOID:4535|OMIMPS:605389|NCIT:C34720|MESH:D007039 A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. SNOMEDCT:53602002|MESH:D007039|DOID:4535|NCIT:C34720 http://purl.obolibrary.org/obo/MONDO_0003037 HGNC:9075 SERPINF2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9075 NCBITaxon:46839 Colorado tick fever virus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_46839 CTFV MONDO:0003038 dysgraphia (disease) biolink:Disease mondo HP:0010526|ICD10:R48.8|DOID:4540 Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994) DOID:4540 http://purl.obolibrary.org/obo/MONDO_0003038 dysgraphia MONDO:0003039 nominal aphasia biolink:Disease mondo MESH:D000849|DOID:4541 Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people. NCIT:C34386|DOID:4541|MESH:D000849 http://purl.obolibrary.org/obo/MONDO_0003039 anomic aphasia (finding)|anomia|anomic aphasia MONDO:0005695 central nervous system AIDS arteritis biolink:Disease mondo UMLS:C0752331|UMLS:C0752330|UMLS:C0752329|MESH:D020943|EFO:0007198 Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections. UMLS:C0752330|UMLS:C0752331|UMLS:C0752329|MESH:D020943 http://purl.obolibrary.org/obo/MONDO_0005695 CNS vasculitis, HIV-associated|HIV-associated CNS vasculitis|vasculitis, HIV-associated CNS|Vasculitides, HIV-associated CNS|CNS Vasculitides, HIV-associated|HIV-associated CNS Vasculitides|HIV 1 associated CNS vasculitis|CNS vasculitis, HIV-1-associated|vasculitis, HIV-1-associated CNS|CNS Vasculitides, HIV-1-associated|Vasculitides, HIV-1-associated CNS|vasculitis of the central nervous system, HIV associated|vasculitis of the central nervous system, HIV-associated|AIDS-associated cerebral aneurysmal arteriopathy|HIV-associated vasculitis of the central nervous system|HIV associated vasculitis of the central nervous system|AIDS associated cerebral aneurysmal arteriopathy|cerebral aneurysmal arteriopathy, AIDS associated|HIV-1-associated CNS vasculitis|HIV-1-associated CNS Vasculitides|central nervous system AIDS arteritis|CNS vasculitis, HIV associated|cerebral aneurysmal arteriopathy, AIDS-associated MONDO:0003032 superior vena cava angiosarcoma biolink:Disease mondo DOID:4522|UMLS:C1336530|NCIT:C5378 A malignant vascular neoplasm arising from the superior vena cava. DOID:4522|NCIT:C5378|UMLS:C1336530 http://purl.obolibrary.org/obo/MONDO_0003032 angiosarcoma (disease) of anterior vena cava|angiosarcoma of Superior vena cava|anterior vena cava angiosarcoma (disease)|angiosarcoma of the Superior vena cava MONDO:0003033 prostate angiosarcoma biolink:Disease mondo DOID:4524|NCIT:C5528|UMLS:C1335504 A malignant vascular neoplasm arising from the prostate. DOID:4524|NCIT:C5528|UMLS:C1335504 http://purl.obolibrary.org/obo/MONDO_0003033 angiosarcoma of prostate|hemangiosarcoma of prostate|prostate angiosarcoma|hemangiosarcoma of the prostate|angiosarcoma of the prostate|prostatic hemangiosarcoma|prostatic angiosarcoma|prostate hemangiosarcoma|angiosarcoma (disease) of prostate gland|prostate gland angiosarcoma (disease) MONDO:0005694 cecal neoplasm biolink:Disease mondo NCIT:C4433|SCTID:126839008|UMLS:C0007528|EFO:0007197|MESH:D002430|DOID:1517 A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. SNOMEDCT:126839008|UMLS:C0007528|DOID:1517|NCIT:C4433|MESH:D002430 http://purl.obolibrary.org/obo/MONDO_0005694 neoplasm of the cecum|neoplasm of cecum|cecum tumor|cecum neoplasm|neoplasm of caecum|tumor of caecum|cecal benign neoplasm|caecum neoplasm (disease)|tumor of the cecum|tumor of cecum|caecum tumor|caecum neoplasm MONDO:0003034 mediastinum angiosarcoma biolink:Disease mondo DOID:4525|UMLS:C1334649|NCIT:C6613 A malignant vascular neoplasm arising from the mediastinum. UMLS:C1334649|DOID:4525|NCIT:C6613 http://purl.obolibrary.org/obo/MONDO_0003034 angiosarcoma (disease) of mediastinum|mediastinal hemangiosarcoma|hemangiosarcoma of mediastinum|angiosarcoma of the mediastinum|hemangiosarcoma of the mediastinum|angiosarcoma of mediastinum|mediastinum angiosarcoma (disease)|mediastinal angiosarcoma MONDO:0005697 cerebral toxoplasmosis biolink:Disease mondo SCTID:192701001|MESH:D016781|EFO:0007200|ICD9:130.0 Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3) SNOMEDCT:192701001|MESH:D016781 http://purl.obolibrary.org/obo/MONDO_0005697 encephalitis due to acquired toxoplasmosis|Toxoplasma encephalitis|meningoencephalitis due to toxoplasmosis MONDO:0005696 central nervous system tuberculosis biolink:Disease mondo ICD9:013.35|ICD9:013.2|COHD:374267|SCTID:186217006|ICD9:013.20|EFO:0007199|DOID:1638|UMLS:C0085388|UMLS:C2607948 A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals. UMLS:C0085388|UMLS:C2607948|SNOMEDCT:186217006|DOID:1638 http://purl.obolibrary.org/obo/MONDO_0005696 tuberculous abscess of brain|tuberculoma of brain|tuberculosis of meninges and central nervous system|central nervous system tuberculosis|intracranial tuberculoma MONDO:0003035 ovarian angiosarcoma biolink:Disease mondo DOID:4527|UMLS:C1335152|NCIT:C5232 A malignant vascular neoplasm arising from the ovary. DOID:4527|NCIT:C5232|UMLS:C1335152 http://purl.obolibrary.org/obo/MONDO_0003035 hemangiosarcoma of ovary|angiosarcoma of the ovary|hemangiosarcoma of the ovary|angiosarcoma of ovary|angiosarcoma (disease) of ovary|ovarian hemangiosarcoma|ovary angiosarcoma (disease) MONDO:0005691 cardiovirus infectious disease biolink:Disease mondo UMLS:C0206617|MESH:D018188|EFO:0007194 Infections caused by viruses of the genus cardiovirus, family picornaviridae. UMLS:C0206617|MESH:D018188 http://purl.obolibrary.org/obo/MONDO_0005691 infections, Cardiovirus|infection, Cardiovirus|Cardiovirus infection MONDO:0005690 Caplan syndrome biolink:Disease mondo EFO:0007192|MESH:D002205|UMLS:C0006915|SCTID:398640008|DOID:10326 A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray. SNOMEDCT:398640008|UMLS:C0006915|DOID:10326|MESH:D002205 http://purl.obolibrary.org/obo/MONDO_0005690 Caplan's disease|Caplan syndrome|Caplan's syndrome|Caplans syndrome|rheumatoid pneumoconiosis MONDO:0005693 cauda equina syndrome biolink:Disease mondo ICD10:G83.4|ICD9:344.6|SCTID:192970008|COHD:4102342|UMLS:C0392548|NCIT:C35436|DOID:11577|GARD:0010987|EFO:0007196 Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery. NCIT:C35436|SNOMEDCT:192970008|DOID:11577|UMLS:C0392548 http://purl.obolibrary.org/obo/MONDO_0005693 syndromic disease of cauda equina|cauda equina syndromic disease gard_rare MONDO:0003030 endometrioid stromal sarcoma of the cervix biolink:Disease mondo UMLS:C3642326|DOID:4520|NCIT:C40220 A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. DOID:4520|UMLS:C3642326|NCIT:C40220 http://purl.obolibrary.org/obo/MONDO_0003030 endometrioid stromal sarcoma of uterine cervix|endometrioid stromal sarcoma of the cervix|cervical endometrial stromal sarcoma|uterine cervix endometrioid stromal sarcoma|endometrial stromal sarcoma of the cervix MONDO:0003031 endometrioid stromal and related neoplasms of the cervix biolink:Disease mondo NCIT:C40218|DOID:4521|UMLS:C4289586 A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. DOID:4521|UMLS:C4289586|NCIT:C40218 http://purl.obolibrary.org/obo/MONDO_0003031 cervix endometrial stromal tumor|endometrioid stromal and related neoplasms of the cervix|endometrioid stromal and related tumors of the cervix MONDO:0005692 cat-scratch disease biolink:Disease mondo ICD9:078.3|GARD:0000027|COHD:440642|UMLS:C0007361|MESH:D002372|Orphanet:50839|NCIT:C84620|SCTID:79974007|UMLS:CN205187|MedDRA:10007729|DOID:11258|ICD10:A28.1|EFO:0007195 Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery. MEDDRA:10007729|UMLS:C0007361|UMLS:CN205187|DOID:11258|NCIT:C84620|MESH:D002372|SNOMEDCT:79974007|ORPHA:50839 http://purl.obolibrary.org/obo/MONDO_0005692 debre's syndrome|Cat scratch disease|Foshay-Mollaret Cat scratch fever|benign lymphoreticulosis|bartonellosis due to Bartonella henselae infection|Cat-scratch fever|debre-Mollaret syndrome|cat scratch fever gard_rare|ordo_disease MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; biolink:Disease mondo Orphanet:521390|UMLS:C4284592|OMIM:617296 ORPHA:521390|UMLS:C4284592|http://identifiers.org/omim/617296 http://purl.obolibrary.org/obo/MONDO_0015007 SINO|spastic paraplegia, intellectual disability, nystagmus, and obesity|spastic paraplegia, intellectual disability, nystagmus, and obesity; SINO ordo_malformation_syndrome MONDO:0015006 generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss biolink:Disease mondo UMLS:C4310631|OMIM:617294|Orphanet:508529 UMLS:C4310631|http://identifiers.org/omim/617294|ORPHA:508529 http://purl.obolibrary.org/obo/MONDO_0015006 epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH|epidermolysis bullosa simplex, generalized, with scarring and hair loss|EBSSH ordo_disease MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent biolink:Disease mondo UMLS:C4310632|OMIM:617290 UMLS:C4310632|http://identifiers.org/omim/617290 http://purl.obolibrary.org/obo/MONDO_0015005 EPVB6D|epilepsy, early-onset, vitamin B6-dependent|epilepsy, early-onset, vitamin B6-dependent; EPVB6D MONDO:0015004 dystonia 28, childhood-onset biolink:Disease mondo UMLS:C4310633|OMIM:617284 Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene. UMLS:C4310633|http://identifiers.org/omim/617284 http://purl.obolibrary.org/obo/MONDO_0015004 dystonia 28, childhood-onset; DYT28|KMT2B dystonic disorder|dystonic disorder caused by mutation in KMT2B|dystonia 28, childhood-onset|DYT28 MONDO:0017666 diffuse palmoplantar keratoderma biolink:Disease mondo ICD10:Q82.8|SCTID:400123002|ICD9:757.39|Orphanet:307141|HP:0007435|UMLS:C0022584 UMLS:C0022584|ORPHA:307141|SNOMEDCT:400123002 http://purl.obolibrary.org/obo/MONDO_0017666 diffuse palmoplantar hyperkeratosis|diffuse keratosis palmoplantaris|diffuse PPK ordo_group_of_disorders MONDO:0017667 isolated diffuse palmoplantar keratoderma biolink:Disease mondo ICD10:Q82.8|Orphanet:307148 A diffuse palmoplantar keratoderma that is not part of a larger syndrome. ORPHA:307148 http://purl.obolibrary.org/obo/MONDO_0017667 nonsyndromic diffuse palmoplantar keratoderma|isolated diffuse palmoplantar hyperkeratosis|isolated diffuse PPK|isolated diffuse keratosis palmoplantaris ordo_group_of_disorders CHEBI:35820 antiprotozoal drug biolink:ChemicalSubstance mondo Any antimicrobial drug which is used to treat or prevent protozoal infections. http://purl.obolibrary.org/obo/CHEBI_35820 antiprotozoal agent|antiprotozoal drugs|antiprotozoal agents MONDO:0015009 hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to biolink:Disease mondo OMIM:617300 http://identifiers.org/omim/617300 http://purl.obolibrary.org/obo/MONDO_0015009 hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD|hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to|HFASD predisposition MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome biolink:Disease mondo ICD10:Q87.8|GARD:0003514|Orphanet:3074|UMLS:CN203552 Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome. ORPHA:3074|UMLS:CN203552 http://purl.obolibrary.org/obo/MONDO_0017668 intellectual disability short stature hypertelorism|Stoll-GC)raudel-Chauvin syndrome|mental retardation short stature hypertelorism|Stoll-Géraudel-Chauvin syndrome|intellectual deficit - short stature - hypertelorism gard_rare|ordo_malformation_syndrome MONDO:0017669 disease with diffuse palmoplantar keratoderma as a major feature biolink:Disease mondo UMLS:CN203554|ICD10:Q82.8|Orphanet:307711 UMLS:CN203554|ORPHA:307711 http://purl.obolibrary.org/obo/MONDO_0017669 disease with diffuse palmoplantar hyperkeratosis as a major feature ordo_group_of_disorders|obsoletion_candidate MONDO:0015008 amelogenesis imperfecta, type 1J biolink:Disease mondo OMIM:617297 http://identifiers.org/omim/617297 http://purl.obolibrary.org/obo/MONDO_0015008 AI1J|amelogenesis imperfecta, type 1J|amelogenesis imperfecta, type Ij MONDO:0017662 miscellaneous movement disorder due to genetic neurodegenerative disease biolink:Disease mondo UMLS:CN203549|Orphanet:307058 ORPHA:307058|UMLS:CN203549 http://purl.obolibrary.org/obo/MONDO_0017662 ordo_group_of_disorders MONDO:0017663 inherited tremor disorder biolink:Disease mondo Orphanet:307064|Orphanet:307061|UMLS:CN227174|UMLS:CN227173 UMLS:CN227174|UMLS:CN227173|ORPHA:307061|ORPHA:307064 http://purl.obolibrary.org/obo/MONDO_0017663 rare genetic myoclonus obsoletion_candidate|ordo_group_of_disorders HGNC:9076 PLIN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9076 MONDO:0017664 obsolete rare genetic myoclonus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017664 MONDO:0017665 rare genetic disease with myoclonus as a major feature biolink:Disease mondo Orphanet:307067|UMLS:CN203550 UMLS:CN203550|ORPHA:307067 http://purl.obolibrary.org/obo/MONDO_0017665 obsoletion_candidate|ordo_group_of_disorders MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities biolink:Disease mondo UMLS:C4310634|OMIM:617282|Orphanet:508093 UMLS:C4310634|ORPHA:508093|http://identifiers.org/omim/617282 http://purl.obolibrary.org/obo/MONDO_0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG|dystonia 29, childhood-onset|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|DYTOABG ordo_malformation_syndrome MONDO:0015002 developmental and epileptic encephalopathy, 49 biolink:Disease mondo UMLS:C4310635|OMIM:617281 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene. UMLS:C4310635|http://identifiers.org/omim/617281 http://purl.obolibrary.org/obo/MONDO_0015002 early infantile epileptic encephalopathy caused by mutation in DENND5A|epileptic encephalopathy, early infantile, 49|DENND5A early infantile epileptic encephalopathy|EIEE49|DEE49|epileptic encephalopathy, early infantile, 49; EIEE49|epileptic encephalopathy, early infantile, type 49 MONDO:0017660 obsolete rare genetic parkinsonian disorder biolink:Disease mondo Orphanet:307052|UMLS:CN227172 ORPHA:307052|UMLS:CN227172 http://purl.obolibrary.org/obo/MONDO_0017660 rare genetic hypokinetic movement disorder ordo_group_of_disorders|obsoletion_candidate MONDO:0015001 atrial fibrillation, familial, 18 biolink:Disease mondo OMIM:617280|UMLS:C4310636 Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene. UMLS:C4310636|http://identifiers.org/omim/617280 http://purl.obolibrary.org/obo/MONDO_0015001 atrial fibrillation, familial, 18|familial atrial fibrillation caused by mutation in MYL4|MYL4 familial atrial fibrillation|atrial fibrillation, familial, type 18|atrial fibrillation, familial, 18; ATFB18|ATFB18 CHEBI:23849 diterpenoid biolink:ChemicalSubstance mondo Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups). http://purl.obolibrary.org/obo/CHEBI_23849 diterpenoides|diterpenoids|C20 isoprenoids MONDO:0017661 rare parkinsonian syndrome due to genetic neurodegenerative disease biolink:Disease mondo UMLS:CN203548|Orphanet:307055 ORPHA:307055|UMLS:CN203548 http://purl.obolibrary.org/obo/MONDO_0017661 ordo_group_of_disorders|obsoletion_candidate MONDO:0015000 developmental and epileptic encephalopathy, 48 biolink:Disease mondo UMLS:C4310637|OMIM:617276 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene. UMLS:C4310637|http://identifiers.org/omim/617276 http://purl.obolibrary.org/obo/MONDO_0015000 epileptic encephalopathy, early infantile, type 48|EIEE48|DEE48|early infantile epileptic encephalopathy caused by mutation in AP3B2|epileptic encephalopathy, early infantile, 48|epileptic encephalopathy, early infantile, 48; EIEE48|AP3B2 early infantile epileptic encephalopathy MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 biolink:Disease mondo OMIM:607721 http://identifiers.org/omim/607721 http://purl.obolibrary.org/obo/MONDO_0054637 Noonan syndrome-like disorder with loose anagen hair 1; NSLH1|NSLH1|NSLH|Tosti syndrome MONDO:0003007 childhood kidney cell carcinoma biolink:Disease mondo UMLS:C1333001|NCIT:C6568|DOID:4454 A renal cell carcinoma that occurs during childhood. NCIT:C6568|UMLS:C1333001|DOID:4454 http://purl.obolibrary.org/obo/MONDO_0003007 pediatric kidney cell carcinoma|renal cell cancer|childhood renal cell carcinoma|childhood renal cell carcinoma (disease)|childhood kidney cell carcinoma|pediatric renal cell carcinoma (disease)|renal cell carcinoma (disease) of childhood|pediatric renal cell carcinoma|pediatric renal cell carcinoma (disease) HGNC:9081 PLOD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9081 MONDO:0003008 hereditary renal cell carcinoma biolink:Disease mondo MESH:C536851|SCTID:717736007|NCIT:C39789|GARD:0009571|DOID:4455 An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. SNOMEDCT:717736007|NCIT:C39789|DOID:4455|MESH:C536851 http://purl.obolibrary.org/obo/MONDO_0003008 hereditary renal cell carcinoma|hereditary renal carcinoma|hereditary renal cell carcinoma (disease)|hereditary renal cell cancer|familial renal carcinoma gard_rare MONDO:0054636 Skraban-Deardorff syndrome biolink:Disease mondo Orphanet:513456|UMLS:C4539927|OMIM:617616 ORPHA:513456|UMLS:C4539927|http://identifiers.org/omim/617616 http://purl.obolibrary.org/obo/MONDO_0054636 Skraban-Deardorff syndrome; SKDEAS|SKDEAS|intellectual disability with seizures, abnormal Gait, and distinctive Facial features ordo_disease MONDO:0005669 black piedra biolink:Disease mondo SCTID:33666009|ICD10:B36.3|DOID:12711|EFO:0007171|ICD9:111.3|UMLS:C0153249 A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft. DOID:12711|UMLS:C0153249|SNOMEDCT:33666009 http://purl.obolibrary.org/obo/MONDO_0005669 OBO:mondo#predisposes_towards predisposes towards biolink:OntologyClass mondo http://purl.obolibrary.org/obo/mondo#predisposes_towards HGNC:9082 PLOD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9082 MONDO:0003009 hyperaldosteronism biolink:Disease mondo MESH:D006929|DOID:446|ICD9:255.10|SCTID:88213004|ICD10:E26|COHD:195213|ICD10:E26.9|UMLS:C0020428|ICD9:255.1 Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. NCIT:C113213|MESH:D006929|SNOMEDCT:88213004|UMLS:C0020428|DOID:446 http://purl.obolibrary.org/obo/MONDO_0003009 Cushing's syndrome|Cushing syndrome|primary hyperaldosteronism HGNC:9080 PLN biolink:OntologyClass mondo http://identifiers.org/hgnc/9080 MONDO:0003003 cervical alveolar soft part sarcoma biolink:Disease mondo UMLS:C1516408|NCIT:C40225|DOID:4442 An alveolar soft part sarcoma arising from the cervix. UMLS:C1516408|NCIT:C40225|DOID:4442 http://purl.obolibrary.org/obo/MONDO_0003003 MONDO:0005666 obsolete berylliosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005666 MONDO:0005665 Bell's palsy biolink:Disease mondo EFO:0007167|ICD9:351.0|NCIT:C26769|COHD:374923|GARD:0005906|ICD10:G51.0|UMLS:C0376175|MESH:D020330|DOID:12506|SCTID:193093009 Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. UMLS:C0376175|NCIT:C26769|MESH:D020330|SNOMEDCT:193093009|DOID:12506 http://purl.obolibrary.org/obo/MONDO_0005665 paralysis Of Facial nerve|Bell's (facial) palsy|facial nerve palsy|facial palsy|palsy of facial nerve|Bell palsy|nerve paralysis, Facial|facial nerve paralysis MONDO:0003004 macular degeneration biolink:Disease mondo NCIT:C123330|SCTID:422338006|MESH:D008268|DOID:4448|UMLS:C0024437 Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. NCIT:C123330|SNOMEDCT:422338006|MESH:D008268|DOID:4448|UMLS:C0024437 http://purl.obolibrary.org/obo/MONDO_0003004 macula lutea retinal degeneration|macular degeneration of retina|retinal degeneration of macula lutea|macula retinal degeneration HGNC:9086 PLP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9086 MONDO:0005668 bird fancier's lung biolink:Disease mondo UMLS:C0005592|ICD10:J67.2|Orphanet:99908|ICD9:495.2|MedDRA:10004941|EFO:0007170|NCIT:C34425|SCTID:69339004|MESH:D001716|DOID:13891 Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis. UMLS:C0005592|MESH:D001716|UMLS:C0031903|NCIT:C34425|ORPHA:99908|DOID:13891|MEDDRA:10004941|SNOMEDCT:69339004 http://purl.obolibrary.org/obo/MONDO_0005668 bird fancier lung|bird-breeder's lung|pigeon breeder's lung|pigeon-breeder's lung|poultry worker's lung|pigeon-breeder lung disease|bird breeder's lung|Avian hypersensitivity pneumonitis|bird-fanciers' lung|bird fancier's lung|bird-fancier's lung ordo_disease MONDO:0003005 macular retinal edema biolink:Disease mondo UMLS:C0271051|SCTID:37231002|DOID:4449|NCIT:C35468 Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision. UMLS:C0271051|NCIT:C35468|SNOMEDCT:37231002|DOID:4449 http://purl.obolibrary.org/obo/MONDO_0003005 macular edema|edema, macular|retinal edema of macula lutea|macula lutea retinal edema HGNC:9083 PLOD3 biolink:OntologyClass mondo http://identifiers.org/hgnc/9083 MONDO:0005667 biliary dyskinesia biolink:Disease mondo DOID:4140|HP:0012396|UMLS:C0005416|MESH:D001657|SCTID:197432008|ICD9:575.8|EFO:0007169 A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction. UMLS:C0005416|MESH:D001657|DOID:4140|SNOMEDCT:197432008 http://purl.obolibrary.org/obo/MONDO_0005667 sphincter of Oddi dysfunction MONDO:0003006 obsolete Bartter disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003006 MONDO:0005662 balantidiasis biolink:Disease mondo MedDRA:10004080|EFO:0007163|ICD10:A07.0|DOID:12386|NCIT:C84583|Orphanet:1223|SCTID:57725006|MESH:D001447|UMLS:C0004692|GARD:0000809|ICD9:007.0 Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer. NCIT:C84583|UMLS:C0004692|SNOMEDCT:57725006|MESH:C531629|MESH:D001447|ORPHA:1223|MEDDRA:10004080|UMLS:C0276786|DOID:12386 http://purl.obolibrary.org/obo/MONDO_0005662 Human balantidiasis|Balantidiases|B coli infection|ciliary dysentery|balantidiosis|large-intestinal infection with Balantidium coli|Balantidium coli infection ordo_disease|gard_rare MONDO:0005661 babesiosis biolink:Disease mondo ICD10:B60.0|MESH:D001404|MedDRA:10003965|COHD:439730|DOID:9643|EFO:0007162|NCIT:C84581|Orphanet:108|GARD:0005878|UMLS:C0004576|SCTID:21061004|ICD9:088.82 Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms. UMLS:C0004576|MESH:D001404|ORPHA:108|SNOMEDCT:21061004|MEDDRA:10003965|DOID:9643|NCIT:C84581 http://purl.obolibrary.org/obo/MONDO_0005661 Babesia disease or disorder|babesiasis|Human babesiosis|infection by Babesia|Babesia infectious disease|piroplasmosis|Babesia caused disease or disorder|Babesia parasite infection ordo_disease|gard_rare MONDO:0003000 central nervous system germ cell tumor biolink:Disease mondo DOID:4439|NCIT:C5461|UMLS:C1332880 A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. DOID:4439|UMLS:C1332880|NCIT:C5461 http://purl.obolibrary.org/obo/MONDO_0003000 germ cell tumor of central nervous system|germ cell tumor of the central nervous system|central nervous system rare germ cell tumor|germ cell tumor of CNS|central nervous system germ cell tumor|central nervous system germ cell neoplasm|CNS germ cell neoplasm|germ cell neoplasm of the CNS|germ cell neoplasm of CNS|CNS germ cell tumor|germ cell neoplasm of central nervous system|germ cell neoplasm of the central nervous system|germ cell tumor of the CNS MONDO:0005664 bartonellosis biolink:Disease mondo UMLS:C0004771|ICD10:A44|EFO:0007166|MESH:D001474|NCIT:C84586|DOID:11102|SCTID:266123003|ICD10:A44.9|ICD9:088.0|COHD:440330 An infectious disease produced by bacteria of the genus Bartonella. SNOMEDCT:266123003|NCIT:C84586|UMLS:C0004771|MESH:D001474|DOID:11102 http://purl.obolibrary.org/obo/MONDO_0005664 Bartonella caused disease or disorder|Bartonella disease or disorder|Rochalimaea infection|Rochalimaea infection (disorder)|Bartonella infection|Bartonella infectious disease|bartonelliasis|Rochalimaea infections MONDO:0003001 seminoma biolink:Disease mondo NCIT:C9309|ONCOTREE:SEM|SCTID:443675005|MESH:D018239|ICDO:9061/3|DOID:4440|ICD9:186.9 A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes. NCIT:C9309|DOID:4440|SNOMEDCT:443675005|MESH:D018239 http://purl.obolibrary.org/obo/MONDO_0003001 seminoma|seminoma, malignant|seminoma, pure MONDO:0005663 Barre-Lieou syndrome biolink:Disease mondo UMLS:C2355645|EFO:0007165|MESH:D055010|SCTID:17300000|DOID:6692|ICD10:M53.0|UMLS:C0376378|NCIT:C34411|ICD9:723.2|COHD:81660 A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo. UMLS:C0376378|MESH:D055010|DOID:6692|NCIT:C34411|SNOMEDCT:17300000|UMLS:C2355645 http://purl.obolibrary.org/obo/MONDO_0005663 Cervicocranial syndrome|posterior cervical sympathetic syndrome MONDO:0003002 dysgerminoma (disease) biolink:Disease mondo MESH:D004407|NCIT:C2996|ICDO:9060/3|HP:0100621|UMLS:C0013377|DOID:4441 A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage. MESH:D004407|UMLS:C0013377|NCIT:C2996|DOID:4441 http://purl.obolibrary.org/obo/MONDO_0003002 dysgerminoma, malignant|dysgerminoma MONDO:0005660 Avulavirus infectious disease biolink:Disease mondo EFO:0007161|UMLS:C1258034|MESH:D045463 Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl. MESH:D045463|UMLS:C1258034 http://purl.obolibrary.org/obo/MONDO_0005660 MONDO:0017659 sporadic hyperekplexia biolink:Disease mondo Orphanet:306776|ICD10:G25.8 ORPHA:306776 http://purl.obolibrary.org/obo/MONDO_0017659 ordo_disease MONDO:0017655 progressive epilepsy and/or ataxia with myoclonus as a major feature biolink:Disease mondo Orphanet:306762 ORPHA:306762 http://purl.obolibrary.org/obo/MONDO_0017655 obsoletion_candidate|ordo_group_of_disorders MONDO:0017656 motor stereotypies biolink:Disease mondo Orphanet:306765 ORPHA:306765 http://purl.obolibrary.org/obo/MONDO_0017656 ordo_group_of_disorders MONDO:0017657 rare paroxysmal movement disorder biolink:Disease mondo UMLS:CN227171|Orphanet:306768 UMLS:CN227171|ORPHA:306768 http://purl.obolibrary.org/obo/MONDO_0017657 obsoletion_candidate|ordo_group_of_disorders MONDO:0017658 hyperekplexia biolink:Disease mondo Orphanet:306773|ICD10:G25.8 A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia ORPHA:306773 http://purl.obolibrary.org/obo/MONDO_0017658 ordo_group_of_disorders MONDO:0017651 primary myoclonus biolink:Disease mondo Orphanet:306750 ORPHA:306750 http://purl.obolibrary.org/obo/MONDO_0017651 ordo_group_of_disorders MONDO:0017652 rare disease with myoclonus as a major feature biolink:Disease mondo UMLS:CN203543|Orphanet:306753 UMLS:CN203543|ORPHA:306753 http://purl.obolibrary.org/obo/MONDO_0017652 obsoletion_candidate|ordo_group_of_disorders MONDO:0017653 epilepsy and/or ataxia with myoclonus as major feature biolink:Disease mondo Orphanet:306756 ORPHA:306756 http://purl.obolibrary.org/obo/MONDO_0017653 ordo_group_of_disorders FOODON:00003318 echinoderm food product biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_00003318 MONDO:0017654 non progressive epilepsy and/or ataxia with myoclonus as a major feature biolink:Disease mondo Orphanet:306759 ORPHA:306759 http://purl.obolibrary.org/obo/MONDO_0017654 obsoletion_candidate|ordo_group_of_disorders CHEBI:60809 adjuvant biolink:ChemicalSubstance mondo Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself. http://purl.obolibrary.org/obo/CHEBI_60809 adjuvants MONDO:0017650 obsolete rare myoclonus biolink:Disease mondo Orphanet:306747|UMLS:CN227170 UMLS:CN227170|ORPHA:306747 http://purl.obolibrary.org/obo/MONDO_0017650 obsoletion_candidate|ordo_group_of_disorders NCBITaxon:10880 Reoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10880 MONDO:0003018 obsolete myotonic disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003018 MONDO:0003019 potassium deficiency disease biolink:Disease mondo MESH:D007008|UMLS:C1514284|ICD10:E87.6|NCIT:C34939|ICD9:276.8|HP:0002900|DOID:4500|SCTID:43339004|COHD:437833 Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia. NCIT:C37974|UMLS:C1514284|MESH:D007008|DOID:4500|NCIT:C34939|SNOMEDCT:43339004 http://purl.obolibrary.org/obo/MONDO_0003019 potassium deficiency disorder|hypopotassemia|hypokalemia HGNC:27337 ANO5 biolink:OntologyClass mondo http://identifiers.org/hgnc/27337 MONDO:0003014 rhinitis biolink:Disease mondo NCIT:C34986|ICD10:J30|SCTID:70076002|UMLS:C0035455|MESH:D012220|EFO:0008521|DOID:4483 An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge. MESH:D012220|DOID:4483|NCIT:C34986|UMLS:C0035455|SNOMEDCT:70076002 http://purl.obolibrary.org/obo/MONDO_0003014 nasal cavity mucosa inflammation|inflammation of nasal cavity mucosa|runny nose MONDO:0005677 Rickettsia conorii infectious disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005677 MONDO:0005676 borna disease biolink:Disease mondo DOID:5154|MESH:D001890|UMLS:C0006023|EFO:0007178 An encephalomyelitis of horses, sheep and cattle caused by borna disease virus. DOID:5154|MESH:D001890|UMLS:C0006023 http://purl.obolibrary.org/obo/MONDO_0005676 enzootic encephalomyelitis MONDO:0003015 obsolete malignant biphasic mesothelioma biolink:Disease mondo A malignant form of malignant biphasic mesothelioma. http://purl.obolibrary.org/obo/MONDO_0003015 malignant biphasic mesothelioma, malignant MONDO:0005679 bovine virus diarrhea-mucosal disease biolink:Disease mondo EFO:0007181|MESH:D001912|UMLS:C0006075 Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality. MESH:D001912|UMLS:C0006075 http://purl.obolibrary.org/obo/MONDO_0005679 MONDO:0003016 obsolete sarcomatoid mesothelioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003016 MONDO:0003017 malignant peritoneal solitary fibrous tumor biolink:Disease mondo DOID:4490 A malignant form of peritoneal solitary fibrous tumor. DOID:4490 http://purl.obolibrary.org/obo/MONDO_0003017 peritoneal solitary fibrous tumor, malignant|pleural and peritoneal solitary fibrous tumor MONDO:0005678 bovine respiratory disease complex biolink:Disease mondo EFO:0007180|UMLS:C1449809|MESH:D048090 A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents. UMLS:C1449809|MESH:D048090 http://purl.obolibrary.org/obo/MONDO_0005678 MONDO:0005673 blind loop syndrome biolink:Disease mondo EFO:0007175|UMLS:C0005750|COHD:196732|SCTID:66379009|DOID:10606|MESH:D001765|ICD10:K90.2|NCIT:C34431|ICD9:579.2 A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis. MESH:D001765|NCIT:C34431|SNOMEDCT:66379009|UMLS:C0005750|DOID:10606 http://purl.obolibrary.org/obo/MONDO_0005673 stasis (blind loop) syndrome|bacterial overgrowth syndrome|stasis syndrome|blind loop syndrome MONDO:0003010 multilocular clear cell renal cell carcinoma biolink:Disease mondo NCIT:C4524|SCTID:254916002|ICD9:189.0|Orphanet:319287|ICDO:8316/3|UMLS:C0346249|ICD10:C64|DOID:4463 A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. UMLS:C0346249|DOID:4463|SNOMEDCT:254916002|ORPHA:319287|NCIT:C4524 http://purl.obolibrary.org/obo/MONDO_0003010 multilocular clear cell renal cell carcinoma|multilocular cystic clear cell renal cell neoplasm of low malignant potential|multilocular clear cell adenocarcinoma|multilocular clear cell renal cell adenocarcinoma|MCRCC|multilocular cystic renal neoplasm of low malignant potential|multilocular clear cell carcinoma|renal cystadenocarcinoma|multilocular cystic renal cell cancer|multilocular cystic renal cell adenocarcinoma|cystadenocarcinoma of kidney|multilocular cystic renal cell carcinoma ordo_histopathological_subtype MONDO:0003011 mucinous tubular and spindle renal cell carcinoma biolink:Disease mondo SCTID:764990003|ONCOTREE:MTSCC|Orphanet:319322|UMLS:C1513719|UMLS:CN203939|ICD10:C64|DOID:4472|NCIT:C39807|ICDO:0000/0 A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain. ORPHA:319322|UMLS:CN203939|SNOMEDCT:764990003|UMLS:C1513719|DOID:4472|NCIT:C39807 http://purl.obolibrary.org/obo/MONDO_0003011 mucinous tubular and spindle cell renal carcinoma|mucinous tubular and spindle cell carcinoma of the kidney|carcinoma, renal, tubular, malignant|renal mucinous tubular spindle cell carcinoma ordo_disease MONDO:0005672 blastomycosis biolink:Disease mondo EFO:0007174|SCTID:191950004|CSP:1988-4119|ICD10:B40|DOID:12663|ICD9:116.0|ICD9:116|MESH:D001759|GARD:0005931|ICD10:B40.9|COHD:433146|NCIT:C34429|UMLS:C0005717|UMLS:C0005716 Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant. SNOMEDCT:191950004|MESH:D001759|NCIT:C34429|DOID:12663|UMLS:C0005716|UMLS:C0005717 http://purl.obolibrary.org/obo/MONDO_0005672 blastomycotic infection|Blastomyces dermatitidis infectious disease|Blastomyces dermatitidis caused disease or disorder|Gilchrist's disease|infection by Blastomyces dermatitidis|Chicago disease|Blastomyces dermatitidis infection|North American blastomycosis|Blastomyces dermatitidis disease or disorder gard_rare MONDO:0003012 sarcomatoid renal cell carcinoma biolink:Disease mondo NCIT:C27893|UMLS:C1266043|ONCOTREE:SRCC|DOID:4473|ICDO:8318/3 A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. UMLS:C1266043|DOID:4473|NCIT:C27893 http://purl.obolibrary.org/obo/MONDO_0003012 renal cell carcinoma with sarcomatoid features|SRCC|sarcomatoid renal cell carcinoma|sarcomatoid renal cell cancer|RCC w/ sarcomatoid features|renal cell carcinoma, spindle cell MONDO:0005675 border disease biolink:Disease mondo UMLS:C0006008|MESH:D001882|EFO:0007177 Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus. MESH:D001882|UMLS:C0006008 http://purl.obolibrary.org/obo/MONDO_0005675 MONDO:0005674 bone giant cell tumor biolink:Disease mondo UMLS:C0206638|Orphanet:363976|ONCOTREE:GCTB|HP:0011847|NCIT:C121932|ICD10:D48.0|SCTID:697970009|GARD:0013046|DOID:4305|MESH:D018212|EFO:0007176 A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint. SNOMEDCT:697970009|DOID:4305|ORPHA:363976|NCIT:C121932|UMLS:C0206638|MESH:D018212 http://purl.obolibrary.org/obo/MONDO_0005674 giant cell tumor, benign|giant cell tumor of bone|giant cell myeloma|benign bone giant cell tumor|Osteoclastoma, benign|GCT of bone|giant cell tumor of the bone|osteoclastoma|giant cell tumor of bone NOS (morphologic abnormality)|giant cell neoplasm of bone|giant cell tumor of bone (morphologic abnormality) ordo_disease MONDO:0003013 obsolete pseudohypoaldosteronism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003013 MONDO:0005671 Blastocystis infectious disease biolink:Disease mondo EFO:0007173|MESH:D016776|SCTID:721809007 Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue. SNOMEDCT:721809007|MESH:D016776 http://purl.obolibrary.org/obo/MONDO_0005671 infection, Blastocystis|Blastocystis infection|infections, Blastocystis MONDO:0005670 blackwater fever biolink:Disease mondo EFO:0007172|NCIT:C34426|DOID:14068|SCTID:56625005|UMLS:C0005681|MESH:D001742|ICD9:084.8 A complication of malaria resulting from hemolysis. DOID:14068|NCIT:C34426|MESH:D001742|SNOMEDCT:56625005|UMLS:C0005681 http://purl.obolibrary.org/obo/MONDO_0005670 hemoglobinuric, malaria|blackwater fever|Black water fever|malarial hemoglobinuria UBERON:0002294 biliary system biolink:AnatomicalEntity mondo Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). http://purl.obolibrary.org/obo/UBERON_0002294 biliary tract|biliary apparatus MONDO:0017648 Sydenham chorea biolink:Disease mondo ICD10:I02.0|MedDRA:10042732|Orphanet:306731|ICD10:I02.9|GARD:0007716 MEDDRA:10042732|ORPHA:306731 http://purl.obolibrary.org/obo/MONDO_0017648 ordo_clinical_situation MONDO:0017649 hemidystonia-hemiatrophy syndrome biolink:Disease mondo Orphanet:306741|UMLS:CN203542 Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD. UMLS:CN203542|ORPHA:306741 http://purl.obolibrary.org/obo/MONDO_0017649 HD-HA syndrome ordo_disease UBERON:0002293 costochondral joint biolink:AnatomicalEntity mondo A bars of hyaline cartilage located between the distal part of a rib and a costal cartilage, connecting the ribs to the sternum . http://purl.obolibrary.org/obo/UBERON_0002293 chondrocostal synchondrosis|articulationes costochondrales|costochondral synchondrosis|articulatio costochondralis|costochondral junction UBERON:0002296 dorsal mesentery biolink:AnatomicalEntity mondo The mesentery that originates from the dorsal side of the peritoneal cavity[ZFA]. http://purl.obolibrary.org/obo/UBERON_0002296 dorsal mesogastrium|mesenterium dorsale commune UBERON:0002290 choroid plexus of fourth ventricle biolink:AnatomicalEntity mondo Choroid plexus of the fourth ventricle http://purl.obolibrary.org/obo/UBERON_0002290 fourth ventricle choroid plexus|fourth ventricle chorioid plexus of cerebral hemisphere|choroid plexus fourth ventricle|4th ventricle choroid plexus|chorioid plexus of cerebral hemisphere of fourth ventricle|chorioid plexus of fourth ventricle MONDO:0017644 obsolete rare tremor disorder biolink:Disease mondo UMLS:CN227168|Orphanet:306712 UMLS:CN227168|ORPHA:306712 http://purl.obolibrary.org/obo/MONDO_0017644 obsoletion_candidate|ordo_group_of_disorders MONDO:0017645 obsolete rare choreic movement disorder biolink:Disease mondo Orphanet:306715 ORPHA:306715 http://purl.obolibrary.org/obo/MONDO_0017645 obsoletion_candidate|ordo_group_of_disorders MONDO:0017646 neurodegenerative disease with chorea biolink:Disease mondo UMLS:CN203538|Orphanet:306719 UMLS:CN203538|ORPHA:306719 http://purl.obolibrary.org/obo/MONDO_0017646 ordo_group_of_disorders UBERON:0002291 central canal of spinal cord biolink:AnatomicalEntity mondo Spinal cord structure that is part of the ventricular system and is filled with cerebral-spinal fluid and runs the length of the spinal cord. http://purl.obolibrary.org/obo/UBERON_0002291 spinal cord central canal|central canal, spinal cord/medulla|central canal|central canal of spinal cord|ventricle of spinal cord|canalis centralis MONDO:0017647 postinfectious autoimmune disease with chorea biolink:Disease mondo UMLS:CN203539|Orphanet:306727 UMLS:CN203539|ORPHA:306727 http://purl.obolibrary.org/obo/MONDO_0017647 ordo_group_of_disorders MONDO:0017640 cyanide-induced parkinsonism biolink:Disease mondo ICD10:G21.2|SCTID:766872002|UMLS:CN203536|Orphanet:306692 Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum. UMLS:CN203536|ORPHA:306692|SNOMEDCT:766872002 http://purl.obolibrary.org/obo/MONDO_0017640 ordo_disease MONDO:0017641 miscellaneous movement disorder due to neurodegenerative disease biolink:Disease mondo Orphanet:306695|UMLS:CN203537 UMLS:CN203537|ORPHA:306695 http://purl.obolibrary.org/obo/MONDO_0017641 ordo_group_of_disorders MONDO:0017642 intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome biolink:Disease mondo ICD10:Q87.8|Orphanet:3067|UMLS:CN227166 ORPHA:3067|UMLS:CN227166 http://purl.obolibrary.org/obo/MONDO_0017642 ordo_malformation_syndrome CHEBI:23824 diol biolink:ChemicalSubstance mondo A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols. http://purl.obolibrary.org/obo/CHEBI_23824 diols MONDO:0017643 frontotemporal neurodegeneration with movement disorder biolink:Disease mondo Orphanet:306708|UMLS:CN227167 UMLS:CN227167|ORPHA:306708 http://purl.obolibrary.org/obo/MONDO_0017643 ordo_group_of_disorders HGNC:30972 SECISBP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/30972 UBERON:0002298 brainstem biolink:AnatomicalEntity mondo Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. http://purl.obolibrary.org/obo/UBERON_0002298 truncus encephali|lamella pallidi incompleta|lamina pallidi incompleta|brain stem|lamina medullaris incompleta pallidi|accessory medullary lamina of pallidum|lamina medullaris accessoria|truncus encephalicus UBERON:0002299 alveolus of lung biolink:AnatomicalEntity mondo Spherical outcropping of the respiratory bronchioles and primary site of gas exchange with the blood. Alveoli are particular to mammalian lungs. Different structures are involved in gas exchange in other vertebrates[WP]. http://purl.obolibrary.org/obo/UBERON_0002299 alveolus pulmonis|lung alveolus|pulmonary alveolus|alveoli|respiratory alveolus|alveolus pulmonis|alveolus|respiratory alveoli MONDO:0030604 cystic partially differentiated nephroblastoma biolink:Disease mondo ICDO:8959/3|DOID:7571|ICDO:8959/1|NCIT:C6897|UMLS:C1266139 A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. DOID:7571|UMLS:C1266139|NCIT:C6897 http://purl.obolibrary.org/obo/MONDO_0030604 malignant cystic nephroma|malignant multilocular cystic nephroma|cystic partially differentiated nephroblastoma MONDO:0030603 Klebsiella infectious disease biolink:Disease mondo MESH:D007710|SCTID:721756002|EFO:1001353|GARD:0010085 Infections with bacteria of the genus KLEBSIELLA. SNOMEDCT:721756002|MESH:D007710 http://purl.obolibrary.org/obo/MONDO_0030603 Klebsiella caused disease or disorder|infection, Klebsiella|infections, Klebsiella|Klebsiella infection|Klebsiella disease or disorder MONDO:0015050 esophageal duplication cyst biolink:Disease mondo ICD10:Q39.8|Orphanet:100047|SCTID:721161005 Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported. SNOMEDCT:721161005|ORPHA:100047 http://purl.obolibrary.org/obo/MONDO_0015050 ordo_morphological_anomaly MONDO:0003069 suppurative lymphadenitis biolink:Disease mondo ICD9:457.8|NCIT:C27135|SCTID:48573006|UMLS:C0392051|DOID:4639 A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria. DOID:4639|NCIT:C27135|SNOMEDCT:48573006|UMLS:C0392051 http://purl.obolibrary.org/obo/MONDO_0003069 suppurative lymphadenopathy MONDO:0030602 Klebsiella pneumonia biolink:Disease mondo ICD9:482.0|SCTID:64479007|UMLS:C0519030|DOID:13272|ICD10:J15.0 An pneumonia caused by infection with Klebsiella. SNOMEDCT:64479007|UMLS:C0519030|DOID:13272 http://purl.obolibrary.org/obo/MONDO_0030602 pneumonia due to Klebsiella pneumoniae|pneumonia due to Klebsiella pneumoniae (disorder)|Klebsiella caused pneumonia|pneumonia caused by Klebsiella pneumoniae MONDO:0003065 nasal cavity inverting papilloma biolink:Disease mondo NCIT:C8194|UMLS:C0280336|DOID:4633 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas. DOID:4633|UMLS:C0280336|NCIT:C8194 http://purl.obolibrary.org/obo/MONDO_0003065 inverting papilloma of nasal cavity|inverting papilloma of the nasal cavity|nasal cavity Schneiderian papilloma, inverted type|nasal cavity inverted papilloma MONDO:0003066 submandibular adenitis biolink:Disease mondo NCIT:C27016|DOID:4636|UMLS:C0235591|SCTID:15170009 Inflammation of the submandibular lymph nodes. UMLS:C0235591|DOID:4636|SNOMEDCT:15170009|NCIT:C27016 http://purl.obolibrary.org/obo/MONDO_0003066 submandibular gland lymphadenitis (disease)|lymphadenitis (disease) of submandibular gland|submandibular lymphadenitis MONDO:0003067 cervical lymphadenitis biolink:Disease mondo UMLS:C0149642|SCTID:3502005|NCIT:C26937|DOID:4637 Inflammation of the cervical lymph nodes. DOID:4637|NCIT:C26937|UMLS:C0149642|SNOMEDCT:3502005 http://purl.obolibrary.org/obo/MONDO_0003067 cervical adenitis|lymphadenitis (disease) of neck|neck lymphadenitis (disease) MONDO:0003068 postauricular lymphadenitis biolink:Disease mondo NCIT:C27332|DOID:4638|UMLS:C0919638 Inflammation of the postauricular lymph nodes. DOID:4638|NCIT:C27332|UMLS:C0919638 http://purl.obolibrary.org/obo/MONDO_0003068 lymphadenitis (disease) of mastoid lymph node|mastoid lymph node lymphadenitis (disease) MONDO:0003061 benign muscle neoplasm biolink:Disease mondo ICDO:8895/0|MESH:D009214|DOID:2691|DOID:461|ICD10:D21|NCIT:C4882 A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue. DOID:2691|NCIT:C4882|MESH:D009214|DOID:461 http://purl.obolibrary.org/obo/MONDO_0003061 neoplasm of muscle|muscle neoplasm|muscle tissue neoplasm|benign tumor of muscle|benign tumor of the muscle|benign neoplasm of muscle|benign muscle neoplasm|benign neoplasm of the muscle|benign muscle tumor|muscle benign neoplasm|myomatous tumor|myoma|myomatous neoplasm MONDO:0003062 intestinal benign neoplasm biolink:Disease mondo NCIT:C4609|UMLS:C0347269|SCTID:92151003 A benign neoplasm that involves the intestine. SNOMEDCT:92151003|UMLS:C0347269|NCIT:C4609 http://purl.obolibrary.org/obo/MONDO_0003062 benign intestinal neoplasms|benign intestine tumor|intestinal neoplasms, benign|benign neoplasms of large and/or small intestine|benign intestine neoplasm|benign neoplasms of the large and/or small intestine|benign tumor of intestines|benign tumor of the intestines|intestinal tumors, benign|benign intestinal neoplasm|benign neoplasm of intestines|benign neoplasm of the intestines|benign intestinal tumors|intestine benign neoplasm|benign intestinal tumor HGNC:27302 IBA57 biolink:OntologyClass mondo http://identifiers.org/hgnc/27302 MONDO:0003063 obsolete hydranencephaly biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003063 MONDO:0003064 inverted transitional cell papilloma biolink:Disease mondo DOID:4630|NCIT:C4118|UMLS:C0334269|ICDO:8121/1 A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern. DOID:4630|NCIT:C4118|UMLS:C0334269 http://purl.obolibrary.org/obo/MONDO_0003064 inverted transitional papilloma|inverted transitional cell papilloma|transitional papilloma, inverted MONDO:0003060 biliary tract cancer biolink:Disease mondo DOID:4607|ICD9:156.9|ICD10:C24.9|GARD:0005924 A malignant neoplasm involving the biliary tree DOID:4607 http://purl.obolibrary.org/obo/MONDO_0003060 cancer of biliary tree|biliary tree cancer|malignant biliary tree neoplasm|malignant neoplasm of biliary tree|malignant tumour of biliary tract gard_rare MONDO:0015059 progressive non-fluent aphasia biolink:Disease mondo SCTID:716281000|MedDRA:10029542|GARD:0010793|NCIT:C85025|MESH:D057178|Orphanet:100070|ICD10:G31.0 Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. MEDDRA:10029542|UMLS:C0751706|NCIT:C85025|SNOMEDCT:716281000|ORPHA:100070|MESH:D057178 http://purl.obolibrary.org/obo/MONDO_0015059 Primary Progressive Nonfluent aphasia|non-fluent variant PPA|non-fluent primary progressive aphasia|Agramatic variant of PPA|Agramatic variant of primary progressive aphasia ordo_disease|gard_rare HGNC:17989 SLC22A12 biolink:OntologyClass mondo http://identifiers.org/hgnc/17989 MONDO:0015054 hereditary angioedema type 2 biolink:Disease mondo ICD10:D84.1|Orphanet:100051|UMLS:C1862892 Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. ORPHA:100051|UMLS:C1862892|UMLS:C0398776 http://purl.obolibrary.org/obo/MONDO_0015054 hereditary angioneurotic edema type 2|HAE-II|HAE 2 ordo_etiological_subtype MONDO:0015053 hereditary angioedema type 1 biolink:Disease mondo ICD9:279.8|ICD10:D84.1|Orphanet:100050|SCTID:234619000 Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. SNOMEDCT:234619000|UMLS:C2717906|ORPHA:100050|MESH:C538577|UMLS:C0398775 http://purl.obolibrary.org/obo/MONDO_0015053 HAE-I|hereditary angioneurotic edema type 1|HAE 1 ordo_etiological_subtype MONDO:0015052 primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies biolink:Disease mondo UMLS:CN197343|Orphanet:100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation. UMLS:CN197343|ORPHA:100049 http://purl.obolibrary.org/obo/MONDO_0015052 primary ILD specific to childhood due to pulmonary surfactant protein anomalies ordo_group_of_disorders MONDO:0015051 tubular duplication of the esophagus biolink:Disease mondo ICD10:Q39.8|Orphanet:100048 Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children. ORPHA:100048 http://purl.obolibrary.org/obo/MONDO_0015051 ordo_morphological_anomaly MONDO:0015058 obsolete Waterhouse-Friderichsen syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0015058 MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema biolink:Disease mondo OMIM:300909|Orphanet:100057|GARD:0009445|MESH:C535293|ICD10:T78.3 Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. MESH:C535293|ORPHA:100057|http://identifiers.org/omim/300909 http://purl.obolibrary.org/obo/MONDO_0015057 reactive angioendotheliomatosis|angioedema induced by ACE inhibitors, susceptibility to|angioedema induced by ACE inhibitors, susceptibility to; AEACEI|susceptibility to angioedema induced by ace inhibitors|Raas-blocker-induced angioedema|Raas-blocker-induced angioneurotic edema|AEACEI|RAE|renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema ordo_clinical_subtype MONDO:0015056 acquired angioedema type 1 biolink:Disease mondo Orphanet:100056|UMLS:CN197348|ICD10:T78.3 Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. UMLS:CN197348|ORPHA:100056 http://purl.obolibrary.org/obo/MONDO_0015056 acquired angioneurotic edema type 1 ordo_clinical_subtype MONDO:0015055 acquired angioedema type 2 biolink:Disease mondo Orphanet:100055|UMLS:CN197347|ICD10:T78.3 Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. UMLS:CN197347|ORPHA:100055 http://purl.obolibrary.org/obo/MONDO_0015055 AAE II|AAE 2|acquired angioneurotic edema type 2 ordo_clinical_subtype MONDO:0027029 HHV-6 encephalitis biolink:Disease mondo GARD:0009667 HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors. http://purl.obolibrary.org/obo/MONDO_0027029 Variant B or HHV-6B|Variant A or HHV-6A|Human Herpesvirus 6 encephalitis gard_rare MONDO:0003076 unilateral retinoblastoma biolink:Disease mondo DOID:4651|NCIT:C8714|UMLS:C0854915 A retinoblastoma that only involves a single eye. NCIT:C8714|UMLS:C0854915|DOID:4651 http://purl.obolibrary.org/obo/MONDO_0003076 HGNC:27310 FLCN biolink:OntologyClass mondo http://identifiers.org/hgnc/27310 MONDO:0003077 intraocular retinoblastoma biolink:Disease mondo DOID:4653|NCIT:C7846|UMLS:C0278717 Retinoblastoma restricted to local involvement. DOID:4653|NCIT:C7846|UMLS:C0278717 http://purl.obolibrary.org/obo/MONDO_0003077 intraocular retinoblastoma MONDO:0003078 extraocular retinoblastoma biolink:Disease mondo NCIT:C7848|DOID:4656|UMLS:C0278719 Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow. DOID:4656|NCIT:C7848|UMLS:C0278719 http://purl.obolibrary.org/obo/MONDO_0003078 extraocular retinoblastoma|metastatic retinoblastoma MONDO:0003079 mastocytoma biolink:Disease mondo ICD9:238.5|ICDO:9740/1|SCTID:404171008|NCIT:C9303|UMLS:C0024897 A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung. UMLS:C0024897|SNOMEDCT:404171008|NCIT:C9303 http://purl.obolibrary.org/obo/MONDO_0003079 mastocytoma MONDO:0003072 retinal cancer biolink:Disease mondo SCTID:363465007|EFO:0005716|ICD10:C69.2|ICD9:190.5|DOID:4645|MESH:D019572|NCIT:C3216 A malignant neoplasm involving the retina. MESH:D019572|NCIT:C3216|SNOMEDCT:363465007|DOID:4645 http://purl.obolibrary.org/obo/MONDO_0003072 malignant retinal neoplasm|malignant neoplasm of retina|retina cancer|malignant tumor of retina|malignant tumor of the retina|retinal tumor|malignant retinal tumor|malignant retina neoplasm|neoplasm of retina|malignant retina tumor|malignant neoplasm of the retina|cancer of retina MONDO:0027026 Buschke Lowenstein tumor biolink:Disease mondo UMLS:C0276264|SCTID:402910001|GARD:0009663|MESH:D062688 A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region. SNOMEDCT:402910001|UMLS:C0276264|MESH:D062688 http://purl.obolibrary.org/obo/MONDO_0027026 giant condyloma acuminatum involving the prepuce and glans penis|anogenital type verrucous carcinoma|condyloma Acuminatum, Giant|Giant condyloma of Buschke and Lowenstein|giant condyloma of Buschke and Lowenstein|tumor, Buschke Lowenstein|Lowenstein tumor, Buschke|tumor, Buschke-Lowenstein|Giant condyloma Acuminatums|Buschke Lowenstein tumor|GCBL|condyloma Acuminatums, Giant|Buschke-Lowenstein tumor|Giant condyloma Acuminatum gard_rare MONDO:0003073 trilateral retinoblastoma biolink:Disease mondo UMLS:C2608045|NCIT:C7019|DOID:4647 Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999). UMLS:C2608045|NCIT:C7019|DOID:4647 http://purl.obolibrary.org/obo/MONDO_0003073 MONDO:0003074 obsolete familial retinoblastoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003074 MONDO:0003075 bilateral retinoblastoma biolink:Disease mondo NCIT:C8713|DOID:4650|UMLS:C0854914 Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well. UMLS:C0854914|DOID:4650|NCIT:C8713 http://purl.obolibrary.org/obo/MONDO_0003075 MONDO:0015049 solitary necrotic nodule of the liver biolink:Disease mondo ICD10:D13.4|Orphanet:100035|UMLS:CN197336|SCTID:447058001 Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort. SNOMEDCT:447058001|UMLS:CN197336|ORPHA:100035 http://purl.obolibrary.org/obo/MONDO_0015049 hepatic solitary necrotic nodule ordo_disease MONDO:0003070 axillary lymphadenitis biolink:Disease mondo UMLS:C0919797|NCIT:C27333|DOID:4640 An infection of the lymph nodes in the axilla. UMLS:C0919797|DOID:4640|NCIT:C27333 http://purl.obolibrary.org/obo/MONDO_0003070 lymphadenitis (disease) of axilla|axillary adenitis|axilla lymphadenitis (disease)|axillary lymphadenitis MONDO:0015048 amelogenesis imperfecta type 2 biolink:Disease mondo Orphanet:100033|SCTID:109475005|GARD:0008349|ICD9:520.5|MESH:C536606|ICD10:K00.5 SNOMEDCT:109475005|MESH:C536606|ORPHA:100033|UMLS:C0399372 http://purl.obolibrary.org/obo/MONDO_0015048 amelogenesis imperfecta hypomaturation type|hypomaturation amelogenesis imperfecta ordo_clinical_subtype|clingen MONDO:0003071 obsolete epidermolysis bullosa simplex biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003071 CHEBI:60832 tubulin modulator biolink:ChemicalSubstance mondo Any substance that interacts with tubulin to inhibit or promote polymerisation of microtubules. http://purl.obolibrary.org/obo/CHEBI_60832 tubulin modulators MONDO:0015043 extramedullary soft tissue plasmacytoma biolink:Disease mondo Orphanet:100022|UMLS:CN197328|ICD10:C90.2 UMLS:CN197328|ORPHA:100022 http://purl.obolibrary.org/obo/MONDO_0015043 ordo_clinical_subtype HGNC:17995 TRPM6 biolink:OntologyClass mondo http://identifiers.org/hgnc/17995 MONDO:0015042 primary plasmacytoma of the bone biolink:Disease mondo ICD10:C90.3|Orphanet:100021|UMLS:CN197327 UMLS:CN197327|ORPHA:100021 http://purl.obolibrary.org/obo/MONDO_0015042 ordo_clinical_subtype HGNC:17994 TRPM7 biolink:OntologyClass mondo http://identifiers.org/hgnc/17994 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 biolink:Disease mondo NCIT:C7168|UMLS:C1318551|Orphanet:100020|ICD10:D46.2 A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO) NCIT:C7168|ORPHA:100020|UMLS:C1318551 http://purl.obolibrary.org/obo/MONDO_0015041 RAEB-II|myelodysplastic syndrome with Excess blasts-2|refractory anemia with excess blasts type 2|RAEB-2|MDS-EB-2 ordo_clinical_subtype HGNC:17997 FKRP biolink:OntologyClass mondo http://identifiers.org/hgnc/17997 MONDO:0015040 myelodysplastic syndrome with excess blasts-1 biolink:Disease mondo NCIT:C7167|UMLS:C1318550|ICD10:D46.2|Orphanet:100019 A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO) NCIT:C7167|ORPHA:100019|UMLS:C1318550 http://purl.obolibrary.org/obo/MONDO_0015040 refractory anemia with excess blasts type 1|myelodysplastic syndrome with Excess blasts-1|RAEB-I|RAEB-1|MDS-EB-1 ordo_clinical_subtype HGNC:17996 NAGS biolink:OntologyClass mondo http://identifiers.org/hgnc/17996 MONDO:0015047 amelogenesis imperfecta type 1 biolink:Disease mondo SCTID:109476006|ICD9:520.5|ICD10:K00.5|Orphanet:100031 ORPHA:100031|SNOMEDCT:109476006 http://purl.obolibrary.org/obo/MONDO_0015047 hypoplastic amelogenesis imperfecta ordo_clinical_subtype MONDO:0015046 gamma-heavy chain disease biolink:Disease mondo Orphanet:100026|ICD10:C88.2|NCIT:C3083|SCTID:109984001|ICD9:273.2|GARD:0010346|DOID:0060127 Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases. DOID:0060127|SNOMEDCT:109984001|ORPHA:100026|NCIT:C3083 http://purl.obolibrary.org/obo/MONDO_0015046 Franklin disease|gamma-HCD|Franklin's disease|gamma heavy chain disease ordo_clinical_subtype MONDO:0015045 alpha-heavy chain disease biolink:Disease mondo ICDO:9764/3|DOID:0060126|NCIT:C3132|Orphanet:100025|ICDO:9760/3|ICD10:C88.3|MESH:D007161|UMLS:C0021071|EFO:1001798 Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption. MESH:D007161|DOID:0060126|UMLS:C0021071|ORPHA:100025|NCIT:C3132 http://purl.obolibrary.org/obo/MONDO_0015045 Mediterranean lymphoma|Mediterranean abdominal lymphoma|Alpha heavy chain disease|IPSID|alpha chain disease|Immunoproliferative small intestinal disease|Alpha-HCD|Seligmann's disease|Mediterraneanl lymphoma ordo_clinical_subtype HGNC:17993 TRPM4 biolink:OntologyClass mondo http://identifiers.org/hgnc/17993 MONDO:0015044 mu-heavy chain disease biolink:Disease mondo Orphanet:100024|SCTID:61493004|NCIT:C3892|DOID:0060128|ICD10:C88.2|ICD9:273.2 Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). DOID:0060128|ORPHA:100024|SNOMEDCT:61493004|NCIT:C3892 http://purl.obolibrary.org/obo/MONDO_0015044 mu heavy chain disease|mu-HCD|mu chain disease ordo_clinical_subtype NCBITaxon:178830 Bornaviridae organism taxon mondo GC_ID:1|PMID:25449305 http://purl.obolibrary.org/obo/NCBITaxon_178830 HGNC:30935 YY1AP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30935 MONDO:0017690 disorder of galactose metabolism biolink:Disease mondo UMLS:C0342745|Orphanet:308467|SCTID:237963003|ICD10:E74.2 UMLS:C0342745|ORPHA:308467|SNOMEDCT:237963003 http://purl.obolibrary.org/obo/MONDO_0017690 ordo_group_of_disorders MONDO:0003047 thymic large cell neuroendocrine carcinoma biolink:Disease mondo UMLS:C1334364|NCIT:C6461|DOID:4553 An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis. DOID:4553|NCIT:C6461|UMLS:C1334364 http://purl.obolibrary.org/obo/MONDO_0003047 thymus large cell carcinoma|large cell carcinoma of the Thymus|Thymus large cell carcinoma|thymus large cell neuroendocrine carcinoma|thymic large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of thymus|large cell neuroendocrine carcinoma of Thymus|large cell neuroendocrine carcinoma of the Thymus|thymic LCNEC HGNC:29944 TENM3 biolink:OntologyClass mondo http://identifiers.org/hgnc/29944 HGNC:29945 TENM4 biolink:OntologyClass mondo http://identifiers.org/hgnc/29945 MONDO:0003048 obsolete type C thymoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0003048 MONDO:0003049 ovarian large-cell neuroendocrine carcinoma biolink:Disease mondo UMLS:C1335174|DOID:4555|NCIT:C5238 A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor. DOID:4555|NCIT:C5238|UMLS:C1335174 http://purl.obolibrary.org/obo/MONDO_0003049 large cell neuroendocrine carcinoma of ovary|large-cell neuroendocrine carcinoma of the ovary|large-cell neuroendocrine carcinoma of ovary|non-small-cell type neuroendocrine carcinoma of the ovary|ovary large cell neuroendocrine carcinoma|ovarian large cell neuroendocrine carcinoma|non-small-cell type neuroendocrine carcinoma of ovary|ovarian large cell NEC|ovarian non-small-cell type neuroendocrine carcinoma|large cell neuroendocrine carcinoma of the ovary MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma biolink:Disease mondo SCTID:404080006|ICD9:171.9|DOID:4548|NCIT:C27481|UMLS:C1275279 A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage. DOID:4548|NCIT:C27481|UMLS:C1275279|SNOMEDCT:404080006 http://purl.obolibrary.org/obo/MONDO_0003043 mesenchymal extraosseous chondrosarcoma|mesenchymal extraskeletal chondrosarcoma MONDO:0003044 obsolete extraosseous chondrosarcoma biolink:Disease mondo DOID:4549 A chondrosarcoma that is located in exclusively soft tissue. DOID:4549 http://purl.obolibrary.org/obo/MONDO_0003044 HGNC:29941 GATAD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/29941 MONDO:0003045 anal gland neoplasm biolink:Disease mondo MESH:D000694|EFO:1000804|DOID:4550|UMLS:C0002757 Tumors or cancer of the anal gland. UMLS:C0002757|DOID:4550|MESH:D000694 http://purl.obolibrary.org/obo/MONDO_0003045 gland of anal canal neoplasm (disease)|neoplasm of gland of anal canal|gland of anal canal tumor|gland of anal canal neoplasm|tumor of gland of anal canal MONDO:0003046 anus neoplasm biolink:Disease mondo SCTID:126849006|DOID:4551|NCIT:C2877|UMLS:C0003463|EFO:0003835|MESH:D001005 A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma. NCIT:C2877|DOID:4551|SNOMEDCT:126849006|UMLS:C0003463|MESH:D001005 http://purl.obolibrary.org/obo/MONDO_0003046 neoplasm of anus|tumor of anus|anal neoplasm|anus neoplasm|neoplasm of the anus|anus tumor|anal tumor|anal tumors|anal neoplasms, benign and malignant|tumor of the anus|anus neoplasm (disease) MONDO:0003040 retrograde amnesia biolink:Disease mondo ICD10:R41.2|MESH:D000648|DOID:4543|COHD:4198081 The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected. NCIT:C34372|MESH:D000648|DOID:4543 http://purl.obolibrary.org/obo/MONDO_0003040 MONDO:0003041 pediatric mesenchymal chondrosarcoma biolink:Disease mondo DOID:4546|UMLS:C1332982|NCIT:C27374 A mesenchymal chondrosarcoma occurring in children. UMLS:C1332982|DOID:4546|NCIT:C27374 http://purl.obolibrary.org/obo/MONDO_0003041 mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of childhood|pediatric mesenchymal chondrosarcoma|childhood mesenchymal chondrosarcoma HGNC:30939 ZFHX4 biolink:OntologyClass mondo http://identifiers.org/hgnc/30939 MONDO:0003042 adult mesenchymal chondrosarcoma biolink:Disease mondo DOID:4547|NCIT:C27375|UMLS:C1332207 A mesenchymal chondrosarcoma occurring in adults. DOID:4547|NCIT:C27375|UMLS:C1332207 http://purl.obolibrary.org/obo/MONDO_0003042 mesenchymal chondrosarcoma of adults|adult mesenchymal chondrosarcoma MONDO:0042604 Sandhaus-Ben-Ami syndrome biolink:Disease mondo UMLS:C2931451|GARD:0000154|MESH:C537233 MESH:C537233|UMLS:C2931451 http://purl.obolibrary.org/obo/MONDO_0042604 Sandhaus Ben-Ami syndrome|patella hypoplasia skeletal malformations gard_rare MONDO:0015039 lissencephaly with cerebellar hypoplasia type F biolink:Disease mondo Orphanet:100016|UMLS:C4274989|ICD10:Q04.3|SCTID:715822007|UMLS:CN228905 Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. UMLS:CN228905|SNOMEDCT:715822007|UMLS:C4274989|ORPHA:100016 http://purl.obolibrary.org/obo/MONDO_0015039 ordo_malformation_syndrome MONDO:0042605 Y chromosome infertility due to DAZ1 deletion biolink:Disease mondo HGNC:2682|GARD:0000185 http://purl.obolibrary.org/obo/MONDO_0042605 DAZ|male sterility due to Y-chromosome deletions|Y chromosome infertility|Y chromosome microdeletions|deleted in azoospermia gard_rare MONDO:0015038 lissencephaly with cerebellar hypoplasia type E biolink:Disease mondo Orphanet:100015|ICD10:Q04.3|UMLS:CN228904 Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia. UMLS:CN228904|ORPHA:100015 http://purl.obolibrary.org/obo/MONDO_0015038 ordo_malformation_syndrome MONDO:0015037 lissencephaly with cerebellar hypoplasia type D biolink:Disease mondo SCTID:715821000|Orphanet:100014|ICD10:Q04.3|UMLS:C4274991|UMLS:CN228903 Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. UMLS:CN228903|UMLS:C4274991|SNOMEDCT:715821000|ORPHA:100014 http://purl.obolibrary.org/obo/MONDO_0015037 ordo_malformation_syndrome HP:0006753 Neoplasm of the stomach biolink:PhenotypicFeature mondo UMLS:C4020813|UMLS:C0038356|NCIT:C3262|SNOMEDCT_US:126824007|MSH:D013274 A tumor (abnormal growth of tissue) of the stomach. http://purl.obolibrary.org/obo/HP_0006753 Increased gastric cancer|Stomach tumor|Neoplasia of the stomach MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form biolink:Disease mondo MedDRA:10053250|ICD10:E74.0|Orphanet:308684 ORPHA:308684|UMLS:C0017922|MEDDRA:10053250 http://purl.obolibrary.org/obo/MONDO_0017699 GBE deficiency, childhood combined hepatic and myopathic form|glycogenosis type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogenosis type IV, childhood combined hepatic and myopathic form|GSDIV, childhood combined hepatic and myopathic form|GSD type 4, childhood combined hepatic and myopathic form|glycogen storage disease type 4, childhood combined hepatic and myopathic form|GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogen storage disease type IV, childhood combined hepatic and myopathic form ordo_clinical_subtype MONDO:0042600 Sammartino-Decreccio syndrome biolink:Disease mondo GARD:0000150 http://purl.obolibrary.org/obo/MONDO_0042600 Sammartino Decreccio syndrome|superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality gard_rare HGNC:17966 CEP83 biolink:OntologyClass mondo http://identifiers.org/hgnc/17966 MONDO:0042601 Samson-Gardner syndrome biolink:Disease mondo UMLS:C2931448|GARD:0000151|MESH:C537230 MESH:C537230|UMLS:C2931448 http://purl.obolibrary.org/obo/MONDO_0042601 Samson Gardner syndrome|craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia gard_rare MONDO:0042602 Samson-Viljoen syndrome biolink:Disease mondo GARD:0000152|MESH:C537231|UMLS:C2931449 MESH:C537231|UMLS:C2931449 http://purl.obolibrary.org/obo/MONDO_0042602 Samson Viljoen syndrome|lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia gard_rare ECTO:0000371 oxygen molecular entity exposure biolink:OntologyClass mondo An exposure to oxygen molecular entity. http://purl.obolibrary.org/obo/ECTO_0000371 exposure to oxygen molecular entity MONDO:0042603 Sanderson-Fraser syndrome biolink:Disease mondo UMLS:C2931450|GARD:0000153|MESH:C537232 MESH:C537232|UMLS:C2931450 http://purl.obolibrary.org/obo/MONDO_0042603 proptosis, Robin association, clenched hands, and multiple abnormalities|Sanderson Fraser syndrome gard_rare HGNC:17967 IRAK4 biolink:OntologyClass mondo http://identifiers.org/hgnc/17967 MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form biolink:Disease mondo ICD10:E74.0|UMLS:CN203594|Orphanet:308621 ORPHA:308621|UMLS:CN203594 http://purl.obolibrary.org/obo/MONDO_0017695 GBE deficiency, progressive hepatic form|GSD due to glycogen branching enzyme deficiency, progressive hepatic form|glycogen storage disease type IV, progressive hepatic form|glycogen storage disease type 4, progressive hepatic form|GSD type 4, progressive hepatic form|GSDIV, progressive hepatic form|glycogenosis type IV, progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form|glycogenosis type 4, progressive hepatic form ordo_clinical_subtype MONDO:0015032 intraneural perineurioma biolink:Disease mondo Orphanet:100003|DOID:4696|NCIT:C6911|UMLS:C1370658|GARD:0010921|SCTID:768934004 A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells. DOID:4696|NCIT:C6911|UMLS:C1370658|ORPHA:100003|SNOMEDCT:768934004 http://purl.obolibrary.org/obo/MONDO_0015032 intraneural perineurioma|intraneural perineurioma (WHO grade I) gard_rare|ordo_disease MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form biolink:Disease mondo Orphanet:308638|UMLS:CN203595|ICD10:E74.0 ORPHA:308638|UMLS:CN203595 http://purl.obolibrary.org/obo/MONDO_0017696 glycogenosis type IV, non progressive hepatic form|glycogenosis type 4, non progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form|GBE deficiency, non progressive hepatic form|glycogen storage disease type IV, non progressive hepatic form|GSD due to glycogen branching enzyme deficiency, non progressive hepatic form|glycogen storage disease type 4, non progressive hepatic form|GSD type 4, non progressive hepatic form|GSDIV, non progressive hepatic form ordo_clinical_subtype MONDO:0015031 extraneural perineurioma biolink:Disease mondo SCTID:768926005|Orphanet:100002|UMLS:CN197321 Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization. SNOMEDCT:768926005|UMLS:CN197321|ORPHA:100002 http://purl.obolibrary.org/obo/MONDO_0015031 soft tissue perineurioma ordo_disease MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form biolink:Disease mondo UMLS:C1856303|ICD10:E74.0|Orphanet:308655 UMLS:C1856303|ORPHA:308655 http://purl.obolibrary.org/obo/MONDO_0017697 GSDIV, fatal perinatal neuromuscular form|glycogenosis type IV, fatal perinatal neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type 4, fatal perinatal neuromuscular form|GBE deficiency, fatal perinatal neuromuscular form|glycogen storage disease type IV, fatal perinatal neuromuscular form|GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogen storage disease type 4, fatal perinatal neuromuscular form|GSD type 4, fatal perinatal neuromuscular form ordo_clinical_subtype HGNC:17964 RDH11 biolink:OntologyClass mondo http://identifiers.org/hgnc/17964 MONDO:0015030 sclerosing perineurioma biolink:Disease mondo Orphanet:100001|UMLS:CN197320 UMLS:CN197320|ORPHA:100001 http://purl.obolibrary.org/obo/MONDO_0015030 ordo_clinical_subtype MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form biolink:Disease mondo Orphanet:308670|UMLS:C1856304|ICD10:E74.0 UMLS:C1856304|ORPHA:308670 http://purl.obolibrary.org/obo/MONDO_0017698 GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogen storage disease type IV, congenital neuromuscular form|GBE deficiency, congenital neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogenosis type 4, congenital neuromuscular form|glycogenosis type IV, congenital neuromuscular form|GSDIV, congenital neuromuscular form|GSD type 4, congenital neuromuscular form|glycogen storage disease type 4, congenital neuromuscular form ordo_clinical_subtype MONDO:0015036 lissencephaly with cerebellar hypoplasia type C biolink:Disease mondo UMLS:CN228902|Orphanet:100013|ICD10:Q04.3|UMLS:C4274992|SCTID:715820004 Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. UMLS:C4274992|SNOMEDCT:715820004|ORPHA:100013|UMLS:CN228902 http://purl.obolibrary.org/obo/MONDO_0015036 ordo_malformation_syndrome MONDO:0017691 erythrocyte galactose epimerase deficiency biolink:Disease mondo UMLS:C0574090|ICD10:E74.2|Orphanet:308473|SCTID:297238008 ORPHA:308473|UMLS:C0574090|SNOMEDCT:297238008 http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte uridine diphosphate galactose-4-epimerase deficiency|erythrocyte UDP-galactose-4-epimerase deficiency|erythrocyte GALE deficiency|erythrocyte epimerase deficiency galactosemia|erythrocyte GALE-D ordo_clinical_subtype MONDO:0015035 lissencephaly with cerebellar hypoplasia type B biolink:Disease mondo UMLS:CN228901|SCTID:715819005|ICD10:Q04.3|Orphanet:100012|UMLS:C4274993 Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb. UMLS:C4274993|ORPHA:100012|SNOMEDCT:715819005|UMLS:CN228901 http://purl.obolibrary.org/obo/MONDO_0015035 ordo_malformation_syndrome MONDO:0017692 generalized galactose epimerase deficiency biolink:Disease mondo SCTID:297237003|Orphanet:308487|ICD10:E74.2|UMLS:C0574089 ORPHA:308487|UMLS:C0574089|SNOMEDCT:297237003 http://purl.obolibrary.org/obo/MONDO_0017692 generalized GALE-D|generalized GALE deficiency|generalized uridine diphosphate galactose-4-epimerase deficiency|generalized UDP-galactose-4-epimerase deficiency|generalized epimerase deficiency galactosemia ordo_clinical_subtype MONDO:0017693 glycogen storage disease due to glycogen synthase deficiency biolink:Disease mondo ICD10:E74.0|Orphanet:308520|UMLS:CN203589 ORPHA:308520|UMLS:CN203589 http://purl.obolibrary.org/obo/MONDO_0017693 glycogenosis due to glycogen synthase deficiency|GSD0|glycogen storage disease type 0|GSD due to glycogen synthase deficiency ordo_group_of_disorders MONDO:0015034 lissencephaly with cerebellar hypoplasia type A biolink:Disease mondo UMLS:CN228900|ICD10:Q04.3|Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia. ORPHA:100011|UMLS:CN228900 http://purl.obolibrary.org/obo/MONDO_0015034 ordo_malformation_syndrome MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset biolink:Disease mondo ICD10:E74.0|UMLS:C3888924|SCTID:722302009|UMLS:CN203590|Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal. SNOMEDCT:722302009|ORPHA:308552|UMLS:CN203590|UMLS:C3888924 http://purl.obolibrary.org/obo/MONDO_0017694 glycogenosis type II, infantile onset|GSD type 2, infantile onset|GSD due to acid maltase deficiency, infantile onset|glycogen storage disease type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|glycogen storage disease type II, infantile onset|GSD type II, infantile onset|glycogenosis type 2, infantile onset|glycogenosis due to acid maltase deficiency, infantile onset|Pompe disease, infantile onset ordo_clinical_subtype MONDO:0015033 ABeta amyloidosis, dutch type biolink:Disease mondo Orphanet:100006|ICD10:I68.0*|ICD9:277.39|SCTID:56453003|ICD10:E85.4+ Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia. MESH:C537944|UMLS:C2931672|SNOMEDCT:56453003|ORPHA:100006|MESH:D028243|UMLS:C0268394 http://purl.obolibrary.org/obo/MONDO_0015033 cerebral amyloid angiopathy, APP-related, Dutch variant|ABetaE22Q amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Dutch type|HCHWA-D|HCHWA, Dutch type ordo_clinical_subtype HGNC:30927 SLC6A20 biolink:OntologyClass mondo http://identifiers.org/hgnc/30927 MONDO:0003058 microcystic meningioma biolink:Disease mondo EFO:1000376|NCIT:C4721|UMLS:C1384408|DOID:4594 A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid. DOID:4594|UMLS:C1384408|NCIT:C4721 http://purl.obolibrary.org/obo/MONDO_0003058 microcystic meningioma|microcystic meningioma (morphologic abnormality) HGNC:30922 LINS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/30922 MONDO:0003059 bile duct cancer biolink:Disease mondo ICD10:C24.0|DOID:4606|ICD9:156.1 A malignant neoplasm involving the bile duct DOID:4606 http://purl.obolibrary.org/obo/MONDO_0003059 cancer of bile duct|bile duct cancer|malignant bile duct neoplasm|malignant neoplasm of bile duct|bile duct tumor|malignant neoplasm of the extrahepatic bile duct|Ca extrahepatic bile ducts MONDO:0003054 benign meningioma biolink:Disease mondo DOID:4587|UMLS:C0281784|NCIT:C4055|SCTID:724171006 A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection. DOID:4587|UMLS:C0281784|NCIT:C4055|SNOMEDCT:724171006 http://purl.obolibrary.org/obo/MONDO_0003054 benign meningioma (WHO grade I)|meningioma, benign|meningioma (disease), benign MONDO:0003055 secretory meningioma biolink:Disease mondo NCIT:C4718|DOID:4588|UMLS:C1384406|EFO:1000522 A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen. DOID:4588|UMLS:C1384406|NCIT:C4718 http://purl.obolibrary.org/obo/MONDO_0003055 secretory meningioma (morphologic abnormality)|secretory meningioma ECTO:9000519 dioxygen exposure biolink:OntologyClass mondo An exposure to dioxygen. http://purl.obolibrary.org/obo/ECTO_9000519 exposure to dioxygen MONDO:0003056 lymphoplasmacyte-rich meningioma biolink:Disease mondo EFO:1000342|NCIT:C4720|UMLS:C0431119|DOID:4591 A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells. DOID:4591|UMLS:C0431119|NCIT:C4720 http://purl.obolibrary.org/obo/MONDO_0003056 lymphoplasmocyte-rich meningioma|lymphoplasmacyte-rich meningioma|lymphoplasmocyte-rich meningioma (morphologic abnormality) MONDO:0003057 pediatric meningioma biolink:Disease mondo NCIT:C8264|DOID:4593|UMLS:C0280656 A meningioma that occurs during childhood. NCIT:C8264|DOID:4593|UMLS:C0280656 http://purl.obolibrary.org/obo/MONDO_0003057 childhood meningioma|pediatric meningioma (disease)|pediatric meningioma (disease)|pediatric meningioma|meningioma|meningioma (disease) of childhood|childhood meningioma (disease) MONDO:0003050 lung large cell carcinoma biolink:Disease mondo SCTID:254629004|ONCOTREE:LCLC|NCIT:C4450|ICD9:162.9|UMLS:C0345958|EFO:0003050|EFO:1000016|DOID:4556 A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection. DOID:4556|SNOMEDCT:254629004|NCIT:C4450|UMLS:C0345958 http://purl.obolibrary.org/obo/MONDO_0003050 large cell carcinoma of lung|large cell carcinoma of the lung|large cell undifferentiated lung carcinoma|lung large cell carcinoma|large cell lung carcinoma|anaplastic lung carcinoma|large cell lung cancer|LCLC MONDO:0003051 non specific chronic endometritis biolink:Disease mondo DOID:4560|UMLS:C1335061|NCIT:C27625 Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present. DOID:4560|NCIT:C27625|UMLS:C1335061 http://purl.obolibrary.org/obo/MONDO_0003051 non specific chronic endometritis MONDO:0003052 granulomatous endometritis biolink:Disease mondo DOID:4561|NCIT:C27626|UMLS:C1333876 Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis. DOID:4561|NCIT:C27626|UMLS:C1333876 http://purl.obolibrary.org/obo/MONDO_0003052 granulomatous endometritis MONDO:0003053 choroid plexus meningioma biolink:Disease mondo NCIT:C4719|DOID:4584|UMLS:C0431118 A meningioma that affects the choroid plexus. DOID:4584|UMLS:C0431118|NCIT:C4719 http://purl.obolibrary.org/obo/MONDO_0003053 meningioma (disease) of choroid plexus|choroid plexus meningioma|choroid meningioma (morphologic abnormality)|choroid plexus meningioma (disease)|meningioma of choroid plexus|meningioma of the choroid plexus MONDO:0015029 reticular perineurioma biolink:Disease mondo Orphanet:100000|UMLS:CN197319 UMLS:CN197319|ORPHA:100000 http://purl.obolibrary.org/obo/MONDO_0015029 ordo_clinical_subtype MONDO:0015028 48,XXYY syndrome biolink:Disease mondo ICD9:758.81|UMLS:C2936741|ICD10:Q98.8|MedDRA:10048230|GARD:0005677|Orphanet:10|SCTID:403760006|NCIT:C89801 The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males. SNOMEDCT:403760006|MEDDRA:10048230|UMLS:C2936741|NCIT:C89801|MESH:D007713|ORPHA:10 http://purl.obolibrary.org/obo/MONDO_0015028 48,XXYY variant of Klinefelter's syndrome|48,XXYY Klinefelter syndrome|48, XXYY syndrome|XXYY syndrome gard_rare|ordo_malformation_syndrome MONDO:0015027 familial isolated hyperparathyroidism biolink:Disease mondo Orphanet:99879|NCIT:C94830|UMLS:CN207422|ICD10:E21.0 A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. ORPHA:99879|NCIT:C94830|UMLS:CN207422 http://purl.obolibrary.org/obo/MONDO_0015027 FIHP|hyperparathyroidism type 4|familial isolated hyperparathyroidism|FIHPT ordo_disease MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 biolink:Disease mondo UMLS:CN240513|OMIM:617341 Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene. UMLS:CN240513|http://identifiers.org/omim/617341 http://purl.obolibrary.org/obo/MONDO_0015026 CRMCC2|cerebroretinal microangiopathy with calcifications and cysts 2; CRMCC2|cerebroretinal microangiopathy with calcifications and cysts type 2|Coats plus syndrome caused by mutation in STN1|STN1 Coats plus syndrome|cerebroretinal microangiopathy with calcifications and cysts 2 MONDO:0017688 disorder of glycolysis biolink:Disease mondo Orphanet:308459|UMLS:CN227176 ORPHA:308459|UMLS:CN227176 http://purl.obolibrary.org/obo/MONDO_0017688 ordo_group_of_disorders MONDO:0017689 disorder of fructose metabolism biolink:Disease mondo Orphanet:308463|UMLS:C0342744|SCTID:39452003|ICD10:E74.1 UMLS:C0342744|SNOMEDCT:39452003|ORPHA:308463 http://purl.obolibrary.org/obo/MONDO_0017689 ordo_group_of_disorders HGNC:17978 B3GALT6 biolink:OntologyClass mondo http://identifiers.org/hgnc/17978 MONDO:0015021 hypotonia, ataxia, and delayed development syndrome biolink:Disease mondo UMLS:C4310618|OMIM:617330 http://identifiers.org/omim/617330|UMLS:C4310618 http://purl.obolibrary.org/obo/MONDO_0015021 hypotonia, ataxia, and delayed development syndrome; HADDS|hypotonia, ataxia, and delayed development syndrome|HADDS MONDO:0017684 disorder of beta and omega amino acid metabolism biolink:Disease mondo Orphanet:308407|SCTID:237940008|ICD9:270.8|UMLS:C0342707 UMLS:C0342707|ORPHA:308407|SNOMEDCT:237940008 http://purl.obolibrary.org/obo/MONDO_0017684 ordo_group_of_disorders MONDO:0015020 intellectual disability, autosomal recessive 59 biolink:Disease mondo UMLS:C4310619|OMIM:617323 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene. http://identifiers.org/omim/617323|UMLS:C4310619 http://purl.obolibrary.org/obo/MONDO_0015020 IMPA1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 59; MRT59|MRT59|mental retardation, autosomal recessive 59|intellectual disability, autosomal recessive type 59|autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1|mental retardation, autosomal recessive type 59|intellectual disability, autosomal recessive 59; MRT59|intellectual disability, autosomal recessive 59|intellectual disability, autosomal recessive 59; MRT59 MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 biolink:Disease mondo ICD10:E71.1|UMLS:CN203582|Orphanet:308442 ORPHA:308442|UMLS:CN203582 http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic aciduria, type cblDv2 ordo_clinical_subtype MONDO:0017686 inborn aminoacylase deficiency biolink:Disease mondo Orphanet:308448 An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity. ORPHA:308448 http://purl.obolibrary.org/obo/MONDO_0017686 inborn aminoacylase activity disorder|rare inborn error of aminoacylase activity|rare inborn error of aminoacylase activity|inborn error of aminoacylase activity|aminoacylase deficiency ordo_group_of_disorders HGNC:17975 REEP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/17975 MONDO:0017687 disorder of neutral amino acid transport biolink:Disease mondo Orphanet:308451|ICD10:E72.0|UMLS:CN203583 An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport. ORPHA:308451|UMLS:CN203583 http://purl.obolibrary.org/obo/MONDO_0017687 rare inborn error of neutral amino acid transport|rare inborn error of neutral amino acid transport|inborn neutral amino acid transport disorder|inborn error of neutral amino acid transport ordo_group_of_disorders MONDO:0015025 developmental and epileptic encephalopathy, 51 biolink:Disease mondo UMLS:CN240510|OMIM:617339|UMLS:C4479208 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene. UMLS:C4479208|http://identifiers.org/omim/617339|UMLS:CN240510 http://purl.obolibrary.org/obo/MONDO_0015025 epileptic encephalopathy, early infantile, type 51|EIEE51|DEE51|MDH2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 51|early infantile epileptic encephalopathy caused by mutation in MDH2|epileptic encephalopathy, early infantile, 51; EIEE51 MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature biolink:Disease mondo UMLS:CN203567|Orphanet:308041 ORPHA:308041|UMLS:CN203567 http://purl.obolibrary.org/obo/MONDO_0017680 autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type biolink:Disease mondo OMIM:617337|UMLS:C4310616 Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene. UMLS:C4310616|http://identifiers.org/omim/617337 http://purl.obolibrary.org/obo/MONDO_0015024 ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type|ectodermal dysplasia syndrome caused by mutation in KDF1|KDF1 ectodermal dysplasia syndrome|ECTD12|ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12 MONDO:0017681 erythrokeratoderma variabilis progressiva biolink:Disease mondo ICD10:Q82.8|Orphanet:308166 Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP. ORPHA:308166 http://purl.obolibrary.org/obo/MONDO_0017681 ordo_group_of_disorders MONDO:0015023 MYPN-related myopathy biolink:Disease mondo UMLS:C4479695|OMIM:617336|DOID:0110933|UMLS:C4479186|UMLS:CN240509 Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions. UMLS:C4479186|UMLS:C4479695|http://identifiers.org/omim/617336|UMLS:CN240509|DOID:0110933 http://purl.obolibrary.org/obo/MONDO_0015023 nemaline myopathy 11|nemaline myopathy caused by mutation in MYPN|nemaline myopathy 11, autosomal recessive; NEM11|nemaline myopathy type 11|nemaline myopathy 11, autosomal recessive|NEM11|MYPN nemaline myopathy MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome biolink:Disease mondo MESH:C537615|ICD10:Q87.2|GARD:0003141|UMLS:C2931547|Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. MESH:C537615|UMLS:C2931547|ORPHA:3082 http://purl.obolibrary.org/obo/MONDO_0017682 intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair|Kozlowski-Krajewska syndrome|mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair ordo_malformation_syndrome MONDO:0015022 intellectual developmental disorder with dysmorphic facies and ptosis biolink:Disease mondo EFO:0009070|UMLS:C4310617|OMIM:617333 UMLS:C4310617|http://identifiers.org/omim/617333 http://purl.obolibrary.org/obo/MONDO_0015022 IDDDFP|intellectual developmental disorder with dysmorphic facies and ptosis|intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP MONDO:0017683 methylcobalamin deficiency type cblDv1 biolink:Disease mondo Orphanet:308380|UMLS:CN203574|ICD10:E72.1 ORPHA:308380|UMLS:CN203574 http://purl.obolibrary.org/obo/MONDO_0017683 functional methionine synthase deficiency type cblDv1 ordo_clinical_subtype MONDO:0005604 obsolete plasma cell leukemia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005604 UBERON:0016880 future nervous system biolink:AnatomicalEntity mondo Primordium that develops into the nervous system http://purl.obolibrary.org/obo/UBERON_0016880 presumptive nervous system MONDO:0005603 pancreatic tubular adenocarcinoma biolink:Disease mondo EFO:0006471 A tubular adenocarcinoma that involves the pancreas. http://purl.obolibrary.org/obo/MONDO_0005603 pancreas tubular adenocarcinoma MONDO:0005606 tubular adenocarcinoma biolink:Disease mondo ICDO:8211/3|NCIT:C65192|DOID:4929|EFO:0006500|UMLS:C0205645 An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. DOID:4929|UMLS:C0205645|NCIT:C65192 http://purl.obolibrary.org/obo/MONDO_0005606 tubular adenocarcinoma|carcinoma, tubular cell, malignant|tubular carcinoma|tubular adenocarcinoma (morphologic abnormality) MONDO:0005605 transitional cell papilloma biolink:Disease mondo DOID:2670|UMLS:C0334266|EFO:0006497|NCIT:C4115|ICDO:8120/0 A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. DOID:2670|NCIT:C4115|UMLS:C0334266 http://purl.obolibrary.org/obo/MONDO_0005605 transitional cell papilloma NOS (morphologic abnormality)|transitional papilloma|transitional cell papilloma|transitional cell papilloma, benign (morphologic abnormality)|papilloma, transitional cell, benign|transitional cell papilloma, benign MONDO:0005600 obsolete ovarian adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005600 MONDO:0005602 ovarian teratoma biolink:Disease mondo SCTID:716077006|DOID:5567|EFO:0006463|NCIT:C8110|UMLS:C0280131 A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. NCIT:C8110|DOID:5567|UMLS:C0280131|SNOMEDCT:716077006 http://purl.obolibrary.org/obo/MONDO_0005602 ovarian teratoma|germ cell teratoma of ovary|teratoma of the ovary|teratoma of ovary|ovarian germ cell teratoma|germ cell teratoma of the ovary NCBITaxon:56251 Plagiorchioidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_56251 MONDO:0005601 ovarian mucinous adenocarcinoma biolink:Disease mondo Orphanet:398961|UMLS:CN205033|ICD10:C56|EFO:0006462|NCIT:C5243|UMLS:C1335167|DOID:3606 An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations. DOID:3606|UMLS:CN205033|ORPHA:398961|NCIT:C5243|UMLS:C1335167 http://purl.obolibrary.org/obo/MONDO_0005601 mucinous carcinoma of ovary|ovarian mucinous carcinoma|mucinous carcinoma of the ovary|mucinous adenocarcinoma of ovary|ovarian mucinous adenocarcinoma|mucinous adenocarcinoma of the ovary|ovary mucinous adenocarcinoma ordo_disease UBERON:0016888 transitional anatomical structure biolink:AnatomicalEntity mondo An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. http://purl.obolibrary.org/obo/UBERON_0016888 UBERON:0016887 entire extraembryonic component biolink:AnatomicalEntity mondo The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. http://purl.obolibrary.org/obo/UBERON_0016887 extra-embryonic component|extraembryonic component UBERON:0016884 shoulder joint biolink:AnatomicalEntity mondo The joint that is formed by the union of the humerus, the scapula (or shoulder blade), and the clavicle (or collarbone). Commonly thought of as a single joint, the shoulder is actually made up of two separate joints - the glenohumeral and acromioclavicular joints http://purl.obolibrary.org/obo/UBERON_0016884 joint of shoulder region UBERON:0016886 muscle tissue of terminal part of digestive tract biolink:AnatomicalEntity mondo Any muscle tissue of the distalmost portion of the digestive tract. http://purl.obolibrary.org/obo/UBERON_0016886 rectum muscle structure|rectum muscle CHEBI:47882 cyclic polypyrrole biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_47882 macrocyclic polypyrroles|polypyrrole macrocycles|cyclic polypyrroles UBERON:0016885 epithelium of terminal part of digestive tract biolink:AnatomicalEntity mondo Epithelium lining the distalmost portion of the digestive tract. http://purl.obolibrary.org/obo/UBERON_0016885 rectum epithelium CHEBI:33232 application biolink:ChemicalSubstance mondo Intended use of the molecular entity or part thereof by humans. http://purl.obolibrary.org/obo/CHEBI_33232 CHEBI:33233 fundamental particle biolink:ChemicalSubstance mondo A particle not known to have substructure. http://purl.obolibrary.org/obo/CHEBI_33233 elementary particles|elementary particle UBERON:0002241 chondrocranium biolink:AnatomicalEntity mondo Endoskeletal elements that encase the brain, nose, inner ear[cjm]. that part of the neurocranium formed by endochondral ossification and comprising the bones of the base of the skull[TFD]. http://purl.obolibrary.org/obo/UBERON_0002241 neurocranium|calvarium UBERON:0002240 spinal cord biolink:AnatomicalEntity mondo Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO) http://purl.obolibrary.org/obo/UBERON_0002240 medulla spinalis|fissura cerebrocerebellaris|cerebrocerebellar fissure|SpC|fissura cerebro-cerebellaris|spinal medulla|spinal cord structure|cerebro-cerebellar fissure HGNC:17944 EXOSC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/17944 CHEBI:33238 monoatomic entity biolink:ChemicalSubstance mondo A monoatomic entity is a molecular entity consisting of a single atom. http://purl.obolibrary.org/obo/CHEBI_33238 atomic entity|monoatomic entities CHEBI:59869 L-alpha-amino acid zwitterion biolink:ChemicalSubstance mondo Zwitterionic form of an L-alpha-amino acid having an anionic carboxy group and a protonated amino group. http://purl.obolibrary.org/obo/CHEBI_59869 L-alpha-amino acid zwitterions|an L-alpha-amino acid UBERON:0002247 uterine horn biolink:AnatomicalEntity mondo either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures http://purl.obolibrary.org/obo/UBERON_0002247 cornu uteri UBERON:0002242 nucleus pulposus biolink:AnatomicalEntity mondo the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord http://purl.obolibrary.org/obo/UBERON_0002242 nucleus pulposus (diskus intervertebralis)|nucleus propulsus|nucleus pulposus of intervertebral disk|pulpy nucleus|nucleus propulsus of intervertebral disk UBERON:0002244 premaxilla biolink:AnatomicalEntity mondo One of the bones of the upper jaw situated between and in front of the maxillae[VHOG]. http://purl.obolibrary.org/obo/UBERON_0002244 premaxillae|os incisivum|premaxilla bone|premaxillary|premaxillary bone|incisive bone MONDO:0005615 plasmacytoma biolink:Disease mondo MESH:D010954|Orphanet:86855|ICD10:C90.3|UMLS:C0032131|ICD10:C90.2|ICDO:9731/3|MedDRA:10035484|ICD9:238.6|ICD10:C90.30|GARD:0007404|NCIT:C9349|DOID:3721|EFO:0006738|SCTID:415112005 Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations. MEDDRA:10035484|NCIT:C9349|SNOMEDCT:415112005|ORPHA:86855|DOID:3721|MESH:D010954|UMLS:C0032131 http://purl.obolibrary.org/obo/MONDO_0005615 solitary myeloma|plasmacytoma|anaplastic solitary extramedullary plasmacytoma of the cecum (type)|extramedullary anaplastic plasmacytoma (type)|myeloma, solitary|anaplastic skeletal plasmacytoma (type)|myeloma - solitary|anaplastic plasmacytoma|solitary plasmacytoma ordo_disease HGNC:29937 CCDC65 biolink:OntologyClass mondo http://identifiers.org/hgnc/29937 MONDO:0005614 pancreatic adenosquamous carcinoma biolink:Disease mondo EFO:0006732|ONCOTREE:PAASC|NCIT:C5721|UMLS:C1335299|DOID:5637 A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma. DOID:5637|UMLS:C1335299|NCIT:C5721 http://purl.obolibrary.org/obo/MONDO_0005614 pancreatic adenoacanthoma|pancreas adenosquamous carcinoma|adenosquamous carcinoma of pancreas|pancreatic adenosquamous carcinoma|adenosquamous carcinoma of the pancreas|adenosquamous pancreas carcinoma|pancreatic adenosquamous cancer|pancreatic mucoepidermoid carcinoma|pancreatic mixed squamous and adenocarcinoma|PAASC MONDO:0005617 undifferentiated carcinoma biolink:Disease mondo UMLS:C0205698|ICDO:8021/3|ICDO:8020/3|EFO:0006772|NCIT:C3692 A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation. UMLS:C0205698|NCIT:C3692 http://purl.obolibrary.org/obo/MONDO_0005617 carcinoma, undifferentiated|carcinoma, undifferentiated, malignant|anaplastic carcinoma|undifferentiated carcinoma MONDO:0005616 pulmonary mucoepidermoid carcinoma biolink:Disease mondo ONCOTREE:LUMEC|EFO:0006740|UMLS:C1708778|NCIT:C45544|DOID:0050932 A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells. UMLS:C1708778|DOID:0050932|NCIT:C45544 http://purl.obolibrary.org/obo/MONDO_0005616 lung mucoepidermoid carcinoma|mucoepidermoid carcinoma of the lung|lung mucoepidermoid cancer MONDO:0005611 bladder transitional cell carcinoma biolink:Disease mondo EFO:0006544|UMLS:C0279680|SCTID:255109008|ONCOTREE:BLCA|DOID:4006|NCIT:C39851 The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival. NCIT:C39851|SNOMEDCT:255109008|UMLS:C0279680|DOID:4006 http://purl.obolibrary.org/obo/MONDO_0005611 urinary bladder transitional cell carcinoma|bladder urothelial carcinoma|transitional cell carcinoma of the urinary bladder|bladder urothelial cancer|urinary bladder urothelial carcinoma|urothelial carcinoma of the urinary bladder|urothelial bladder carcinoma|BLCA|transitional cell carcinoma of bladder|bladder transitional cell carcinoma MONDO:0005610 Kashin-Beck disease biolink:Disease mondo ICD9:716.08|ICD9:716.06|ICD9:716.00|EFO:0006511|MESH:D057767|SCTID:270505009|UMLS:C2745963 Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology. SNOMEDCT:270505009|UMLS:C2745963|MESH:D057767 http://purl.obolibrary.org/obo/MONDO_0005610 UBERON:0002228 rib biolink:AnatomicalEntity mondo An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses. http://purl.obolibrary.org/obo/UBERON_0002228 dorsal rib|pleural rib|ribs MONDO:0005613 mesonephric adenocarcinoma biolink:Disease mondo EFO:0006719|NCIT:C4072|ICDO:9110/3 An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants. NCIT:C4072 http://purl.obolibrary.org/obo/MONDO_0005613 malignant Mesonephroma HGNC:29935 SPATA16 biolink:OntologyClass mondo http://identifiers.org/hgnc/29935 MONDO:0005612 obsolete ovarian leiomyosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005612 GO:0046579 positive regulation of Ras protein signal transduction biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction. http://purl.obolibrary.org/obo/GO_0046579 upregulation of Ras protein signal transduction|up-regulation of Ras protein signal transduction|up regulation of Ras protein signal transduction|activation of Ras protein signal transduction|stimulation of Ras protein signal transduction UBERON:0016879 future central nervous system biolink:AnatomicalEntity mondo Primordium that develops into the central nervous system http://purl.obolibrary.org/obo/UBERON_0016879 presumptive central nervous system|future CNS GO:0046578 regulation of Ras protein signal transduction biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of Ras protein signal transduction. http://purl.obolibrary.org/obo/GO_0046578 HGNC:29932 COASY biolink:OntologyClass mondo http://identifiers.org/hgnc/29932 CHEBI:33242 inorganic hydride biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydrides CHEBI:33245 organic fundamental parent biolink:ChemicalSubstance mondo An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system. http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parents|organic parent hydrides CHEBI:33246 inorganic group biolink:ChemicalSubstance mondo Any substituent group which does not contain carbon. http://purl.obolibrary.org/obo/CHEBI_33246 inorganic groups CHEBI:33247 organic group biolink:ChemicalSubstance mondo Any substituent group or skeleton containing carbon. http://purl.obolibrary.org/obo/CHEBI_33247 organic groups CHEBI:33249 organyl group biolink:ChemicalSubstance mondo Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. http://purl.obolibrary.org/obo/CHEBI_33249 organyl group|organyl groups|grupo organilo|grupos organilo|groupe organyle UBERON:0002236 costal cartilage biolink:AnatomicalEntity mondo the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it http://purl.obolibrary.org/obo/UBERON_0002236 cartilago costalis|cartilagines costales|sternal cartilage UBERON:0002237 true rib biolink:AnatomicalEntity mondo A rib that is ventrally connected to the sternum. http://purl.obolibrary.org/obo/UBERON_0002237 costa vera|costae verae MONDO:0005608 varicella zoster infection biolink:Disease mondo ICD9:052.7|EFO:0006509|UMLS:C0586989|SCTID:309465005|NCIT:C96407 A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. SNOMEDCT:309465005|UMLS:C0586989|NCIT:C96407 http://purl.obolibrary.org/obo/MONDO_0005608 varicella zoster infection|Varicella-zoster Virus infection UBERON:0004895 alveolar smooth muscle biolink:AnatomicalEntity mondo Alveolar smooth muscle is a type of non-striated muscle, found within the walls of the alveolus http://purl.obolibrary.org/obo/UBERON_0004895 MONDO:0005607 chronic bronchitis biolink:Disease mondo EFO:0006505|SCTID:63480004|COHD:255841|NCIT:C26722|ICD9:491.9|ICD9:491|ICD9:491.8|UMLS:C0008677 A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath. SNOMEDCT:63480004|UMLS:C0008677|NCIT:C26722 http://purl.obolibrary.org/obo/MONDO_0005607 bronchitis, chronic UBERON:0002234 proximal phalanx of manus biolink:AnatomicalEntity mondo A proximal phalanx that is part of a finger [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002234 proximal phalanx of manual digit|proximal phalanx of hand|phalanx proximalis manus|proximal phalanx of fore digit|proximal manual phalanx|proximal phalanx of finger|hand proximal phalanx CHEBI:33240 coordination entity biolink:ChemicalSubstance mondo An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands). http://purl.obolibrary.org/obo/CHEBI_33240 coordination compounds|coordination entity|coordination entities UBERON:0004893 interalveolar septum biolink:AnatomicalEntity mondo A the thin septum that separates adjacent pulmonary alveoli, containing connective tissue constituents of the respiratory tissue and the capillary network of the blood supply of the lung. http://purl.obolibrary.org/obo/UBERON_0004893 alveolar septum|septum interalveolare MONDO:0005609 herpes zoster biolink:Disease mondo SCTID:4740000|ICD10:B02|COHD:443943|MESH:D006562|DOID:8536|NCIT:C71079|EFO:0006510|ICD10:B02.9|UMLS:C0019360|ICD9:053 A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. UMLS:C0019360|SNOMEDCT:4740000|MESH:D006562|NCIT:C71079|DOID:8536 http://purl.obolibrary.org/obo/MONDO_0005609 Zoster|postherpetic neuralgia|shingles|herpes Zoster|herpes zona UBERON:0004894 alveolar wall biolink:AnatomicalEntity mondo A wall that contains the alveoli http://purl.obolibrary.org/obo/UBERON_0004894 pulmonary interalveolar septum|wall of pulmonary alveolus|pulmonary alveolar wall|alveolus wall CHEBI:33241 oxoacid derivative biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_33241 oxoacid derivatives GO:0046580 negative regulation of Ras protein signal transduction biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction. http://purl.obolibrary.org/obo/GO_0046580 inhibition of Ras protein signal transduction|downregulation of Ras protein signal transduction|down-regulation of Ras protein signal transduction|down regulation of Ras protein signal transduction UBERON:0002217 synovial joint biolink:AnatomicalEntity mondo Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA] http://purl.obolibrary.org/obo/UBERON_0002217 diarthrosis joint|articulatio synoviale|diarthrodial joints|diarthroses|diarthrosis CHEBI:47867 indicator biolink:ChemicalSubstance mondo Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc. http://purl.obolibrary.org/obo/CHEBI_47867 Indikator CHEBI:47868 photosensitizing agent biolink:ChemicalSubstance mondo A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells. http://purl.obolibrary.org/obo/CHEBI_47868 photosensitising agent UBERON:0004880 chordamesoderm biolink:AnatomicalEntity mondo The central region of trunk mesoderm. This tissue forms the notochord http://purl.obolibrary.org/obo/UBERON_0004880 presumptive notochord|chorda mesoderm|dorsal mesoderm|axial chorda mesoderm HGNC:9009 PKD2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9009 HGNC:17928 PSMC3IP biolink:OntologyClass mondo http://identifiers.org/hgnc/17928 HGNC:9008 PKD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9008 UBERON:0004888 right lung hilus biolink:AnatomicalEntity mondo A lung hilus that is part of the right lung. http://purl.obolibrary.org/obo/UBERON_0004888 right lung hilum|right pulmonary hilus|hilus of right lung|hilum of right lung|right pulmonary hilum UBERON:0004889 lobar bronchus vasculature biolink:AnatomicalEntity mondo Vasculature that is composed of the tubule structures that carry blood or lymph in the lungs http://purl.obolibrary.org/obo/UBERON_0004889 UBERON:0002224 thoracic cavity biolink:AnatomicalEntity mondo The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. http://purl.obolibrary.org/obo/UBERON_0002224 thoracic lumen|cavitas thoracis|cavity of thorax|chest cavity|space of thoracic compartment|pectoral cavity|cavity of chest UBERON:0004886 lung hilus biolink:AnatomicalEntity mondo A depression on the surface of the lung where the bronchus, blood vessels and nerves enter. http://purl.obolibrary.org/obo/UBERON_0004886 hilum of lung|pulmonary hilus|hilum pulmonis|pulmonary hilum|lung hilum|hilus of lung UBERON:0004887 left lung hilus biolink:AnatomicalEntity mondo A lung hilus that is part of the left lung. http://purl.obolibrary.org/obo/UBERON_0004887 hilum of left lung|left lung hilum|left pulmonary hilum|hilus of left lung|left pulmonary hilus UBERON:0004884 lobar bronchus mesenchyme biolink:AnatomicalEntity mondo The mass of tissue composed of mesenchymal cells in the lobar bronchus.. http://purl.obolibrary.org/obo/UBERON_0004884 mesenchyme of lobar bronchus HGNC:9005 PITX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9005 UBERON:0004885 hilum biolink:AnatomicalEntity mondo An anatomical cavity, depression or pit where structures are attached. http://purl.obolibrary.org/obo/UBERON_0004885 hilus HGNC:9006 PITX3 biolink:OntologyClass mondo http://identifiers.org/hgnc/9006 UBERON:0002223 endolymphatic sac biolink:AnatomicalEntity mondo From the posterior wall of the saccule a canal, the ductus endolymphaticus, is given off; this duct is joined by the ductus utriculosaccularis, and then passes along the aquaeductus vestibuli and ends in a blind pouch, the endolymphatic sac, on the posterior surface of the petrous portion of the temporal bone, where it is in contact with the dura mater. Studies suggest that the endolymphatic duct and endolymphatic sac perform both absorptive and secretory, as well as phagocytic and immunodefensive,functions . [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002223 saccus endolymphaticus|saccus endolymphaticus UBERON:0004883 lung mesenchyme biolink:AnatomicalEntity mondo The mass of tissue made up of mesenchymal cells in the lung. http://purl.obolibrary.org/obo/UBERON_0004883 lung-associated mesenchyme|pulmonary mesenchyme|mesenchyme of lung HGNC:9004 PITX1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9004 HGNC:29918 NDUFAF3 biolink:OntologyClass mondo http://identifiers.org/hgnc/29918 UBERON:0002209 fibrous joint biolink:AnatomicalEntity mondo Nonsynovial joint in which the articulating bones or cartilages are connected by ligaments. Examples: sagittal suture, inferior tibiofibular syndesmosis, gomphosis.[FMA] http://purl.obolibrary.org/obo/UBERON_0002209 articulatio fibrosa|junctura fibrosa UBERON:0004869 parietal organ biolink:AnatomicalEntity mondo A part of the epithalamus present in some animal species. The eye may be photoreceptive and is usually associated with the pineal gland, regulating circadian rhythmicity and hormone production for thermoregulation. The parietal eye is a part of the epithalamus, which can be divided into two major parts; the epiphysis (the pineal organ, or pineal gland if mostly endocrine) and the parietal organ (often called the parietal eye, or third eye if it is photoreceptive). It arises as an anterior evagination of the pineal organ or as a separate outgrowth of the roof of the diencephalon. In some species, it protrudes through the skull.[4] The parietal eye uses a different biochemical method of detecting light than rod cells or cone cells in a normal vertebrate eye[WP]. http://purl.obolibrary.org/obo/UBERON_0004869 third eye|parietal eye CHEBI:47857 ureas biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_47857 urea derivatives HGNC:29914 NUP107 biolink:OntologyClass mondo http://identifiers.org/hgnc/29914 RO:0004047 causally upstream of or within, positive effect biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004047 UBERON:0016855 ventral part of optic cup biolink:AnatomicalEntity mondo The ventral region of the optic cup that gives rise to the ventral part of the retina. http://purl.obolibrary.org/obo/UBERON_0016855 ventral region of optic cup|ventral optic cup UBERON:0016854 dorsal part of optic cup biolink:AnatomicalEntity mondo The dorsal region of the optic cup that gives rise to the dorsal part of the retina. http://purl.obolibrary.org/obo/UBERON_0016854 dorsal optic cup|dorsal region of optic cup CHEBI:33229 vitamin biolink:ChemicalSubstance mondo A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. http://purl.obolibrary.org/obo/CHEBI_33229 vitaminum|Vitamin|vitaminas|vitamine|vitamins|vitamines|vitamina RO:0004046 causally upstream of or within, negative effect biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004046 UBERON:0016853 interdigital gland biolink:AnatomicalEntity mondo A skin gland found in the interdigital region of some mammals http://purl.obolibrary.org/obo/UBERON_0016853 interdigital sinus UBERON:0016852 skin scent gland biolink:AnatomicalEntity mondo A scent gland that is part of the skin http://purl.obolibrary.org/obo/UBERON_0016852 cutaneous scent gland HGNC:17935 CD207 biolink:OntologyClass mondo http://identifiers.org/hgnc/17935 UBERON:0002213 cartilaginous joint biolink:AnatomicalEntity mondo Nonsynovial joint in which the articulating bones or cartilages are connected by cartilage. Examples: Spheno-occipital synchondrosis, first sternocostal joint, pubic symphysis.[FMA] http://purl.obolibrary.org/obo/UBERON_0002213 articulatio cartilaginea|junctura cartilaginea UBERON:0026246 sacral spinal cord white matter biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0026246 sacral spinal cord white matter NCBITaxon:404429 Echinostomatoidea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_404429 Fascioloidea|Cyclocoeloidea UBERON:0002216 symphysis biolink:AnatomicalEntity mondo Cartilaginous joint in which the articulating bones or cartilages are connected by fibrocartilage. Examples: pubic symphysis, intervertebral symphysis, manubriosternal joint.[FMA] http://purl.obolibrary.org/obo/UBERON_0002216 secondary cartilaginous joint UBERON:0004875 nephrogenic cord biolink:AnatomicalEntity mondo A portion of the urogenital ridge which is the source of much of the urinary system[WP]. http://purl.obolibrary.org/obo/UBERON_0004875 chorda nephrogenica UBERON:0004876 urogenital fold biolink:AnatomicalEntity mondo One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. http://purl.obolibrary.org/obo/UBERON_0004876 urethral fold|urogenital fold|urogenital ridge UBERON:0002215 synchondrosis biolink:AnatomicalEntity mondo Cartilaginous joint in which the articulating bones or cartilages are connected by hyaline cartilage. Examples: spheno-occipital synchondrosis, first sternocostal joint.[FMA] http://purl.obolibrary.org/obo/UBERON_0002215 epiphysial cartilage|primary cartilaginous joint|cartilago epiphysialis UBERON:0002210 syndesmosis biolink:AnatomicalEntity mondo Fibrous joint in which the articulating bones or cartilages of the vertebral column and the limbs as well as articulating ossicles, are connected by skeletal ligaments or membranes. Examples: Intervertebral syndesmosis, inferior tibiofibular joint.[FMA] http://purl.obolibrary.org/obo/UBERON_0002210 UBERON:0004873 splanchnopleure biolink:AnatomicalEntity mondo A structure created during embryogenesis when the lateral mesoderm splits into two layers - the inner (or splanchnic) layer adheres to the endoderm, and with it forms the splanchnopleure[WP]. http://purl.obolibrary.org/obo/UBERON_0004873 ventral splanchnic mesoderm HGNC:9016 PKHD1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9016 UBERON:0004874 somatopleure biolink:AnatomicalEntity mondo A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. http://purl.obolibrary.org/obo/UBERON_0004874 UBERON:0004871 somatic layer of lateral plate mesoderm biolink:AnatomicalEntity mondo Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. http://purl.obolibrary.org/obo/UBERON_0004871 somatic mesoderm|parietal mesoderm|outer layer of lateral plate mesoderm CHEBI:35881 pnictogen hydride biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride|pnictogen hydrides UBERON:0004872 splanchnic layer of lateral plate mesoderm biolink:AnatomicalEntity mondo Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. http://purl.obolibrary.org/obo/UBERON_0004872 visceral mesoderm|splanchnic mesoderm|inner layer of lateral plate mesoderm UBERON:0002211 nerve root biolink:AnatomicalEntity mondo A continuation of the neuron projection bundle component of a nerve inside, crossing or immediately outside the central nervous system. http://purl.obolibrary.org/obo/UBERON_0002211 initial segment of nerve|radix nervi MONDO:0005648 aortic valve insufficiency biolink:Disease mondo UMLS:C0155568|NCIT:C51223|EFO:0007148|COHD:439834|UMLS:C0003504|ICD9:395.1|ICD9:396.3|MESH:D001022|DOID:57|SCTID:78031003|ICD10:I06.1 Dysfunction of the aortic valve characterized by incomplete valve closure. SNOMEDCT:78031003|UMLS:C0155568|DOID:57|UMLS:C0003504|MESH:D001022|NCIT:C51223 http://purl.obolibrary.org/obo/MONDO_0005648 aortic insufficiency|rheumatic aortic insufficiency|rheumatic aortic valve insufficiency|aortic regurgitation|Corrigan's disease|rheumatic aortic regurgitation|aortic incompetence|rheumatic aortic valve regurgitation MONDO:0005647 anogenital human papillomavirus infection biolink:Disease mondo EFO:0007147|ICD9:078.11|COHD:198075|DOID:11168|SCTID:266113007|NCIT:C4820|ICD10:A63.0|MESH:D003218 A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia. SNOMEDCT:266113007|DOID:11168|MESH:D003218|NCIT:C4820 http://purl.obolibrary.org/obo/MONDO_0005647 anogenital Human papilloma Virus infectious disease|anogenital Warts|anogenital Human Papillomavirus infection|condyloma acuminatum|genital wart virus infectious disease|anogenital Human papilloma Virus infection|genital Warts|venereal wart|anogenital venereal wart RO:0004030 disease arises from structure biolink:OntologyClass mondo RO:0004030 A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. http://purl.obolibrary.org/obo/RO_0004030 MONDO:0005649 appendicitis biolink:Disease mondo EFO:0007149|ICD10:K37|UMLS:C0003615|SCTID:74400008|ICD9:541|MESH:D001064|COHD:440448|NCIT:C35145|ICD9:540-543.99|DOID:8337 Acute inflammation of the vermiform appendix. DOID:8337|UMLS:C0003615|MESH:D001064|SNOMEDCT:74400008|NCIT:C35145 http://purl.obolibrary.org/obo/MONDO_0005649 inflammation of vermiform appendix|acute appendicitis|acute appendicitis with generalized peritonitis|vermiform appendix inflammation|acute appendicitis with peritoneal abscess MONDO:0005644 amebiasis biolink:Disease mondo NCIT:C84551|EFO:0007144|ICD9:006|ICD9:006.9|ICD10:A06|MESH:D000562|UMLS:C0002438|ICD10:A06.9|DOID:9181 A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs. DOID:9181|NCIT:C84551|UMLS:C0002438|MESH:D000562 http://purl.obolibrary.org/obo/MONDO_0005644 chronic intestinal amebiasis|amoebiasis|entamoebiasis NCBITaxon:56210 Calomys callosus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_56210 large vesper mouse MONDO:0005643 Alphavirus infectious disease biolink:Disease mondo MESH:D018354|EFO:0007142|UMLS:C0206752 Virus diseases caused by members of the alphavirus genus of the family togaviridae. MESH:D018354|UMLS:C0206752 http://purl.obolibrary.org/obo/MONDO_0005643 Alphavirus disease or disorder|Alphavirus caused disease or disorder HGNC:9020 PKLR biolink:OntologyClass mondo http://identifiers.org/hgnc/9020 MONDO:0005646 obsolete anisakiasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005646 MONDO:0005645 ancylostomiasis biolink:Disease mondo GARD:0009742|EFO:0007145|DOID:12841|MedDRA:10020376|ICD10:B76.1|MESH:D000724|UMLS:C0002831|MedDRA:10002255|ICD10:B76.9|ICD10:B76.8|ICD10:B76.0|ICD9:126.9|NCIT:C35805|ICD9:126.8|Orphanet:78|MONDO:0019184|SCTID:63479002 Infection by hookworms of the genus Ancylostoma. MEDDRA:10020376|UMLS:C0019911|MESH:D006725|MEDDRA:10002255|DOID:12841|SNOMEDCT:63479002|ORPHA:78|UMLS:C0002831|NCIT:C35805|MESH:D000724 http://purl.obolibrary.org/obo/MONDO_0005645 Ancylostoma duodenale infection|Ancylostoma infectious disease|Ancylostoma caused disease or disorder|hookworm infection|Ancylostoma disease or disorder ordo_disease MONDO:0005640 akinetic mutism biolink:Disease mondo SCTID:53333005|MESH:D000405|DOID:4267|EFO:0007138|UMLS:C0001889 A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67) MESH:D000405|DOID:4267|UMLS:C0001889|SNOMEDCT:53333005 http://purl.obolibrary.org/obo/MONDO_0005640 Coma vigilans (finding)|Coma vigilans RO:0004035 acts upstream of, negative effect biolink:OntologyClass mondo c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative http://purl.obolibrary.org/obo/RO_0004035 MONDO:0005642 atopic conjunctivitis biolink:Disease mondo HP:0007879|ICD9:372.14|DOID:11204|EFO:0007141|SCTID:473460002|UMLS:C0009766|NCIT:C34506 Conjunctivitis due to hypersensitivity to various allergens. DOID:11204|SNOMEDCT:473460002|UMLS:C0009766|NCIT:C34506 http://purl.obolibrary.org/obo/MONDO_0005642 allergic form of conjunctivitis (disease)|Atopic conjunctivitis|allergic conjunctivitis (disease)|allergic conjunctivitis MONDO:0005641 aleutian mink disease biolink:Disease mondo DOID:2934|ICD9:079.89|SCTID:62251004|MESH:D000453|UMLS:C0002016|EFO:0007139 A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible. DOID:2934|UMLS:C0002016|SNOMEDCT:62251004|MESH:D000453 http://purl.obolibrary.org/obo/MONDO_0005641 Aleutian mink disease virus infectious disease|Aleutian mink disease virus caused disease or disorder|Aleutian disease|Aleutian mink disease virus disease or disorder RO:0004032 acts upstream of or within, positive effect biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004032 RO:0004031 enables subfunction biolink:OntologyClass mondo Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P. http://purl.obolibrary.org/obo/RO_0004031 RO:0004034 acts upstream of, positive effect biolink:OntologyClass mondo c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive http://purl.obolibrary.org/obo/RO_0004034 RO:0004033 acts upstream of or within, negative effect biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004033 MONDO:0017637 rare parkinsonian syndrome due to intoxication biolink:Disease mondo Orphanet:306679|UMLS:CN203533 UMLS:CN203533|ORPHA:306679 http://purl.obolibrary.org/obo/MONDO_0017637 ordo_group_of_disorders|obsoletion_candidate UBERON:0002283 nail matrix biolink:AnatomicalEntity mondo Portion of tissue (or germinal matrix) upon which the nail rests, the part of the nail bed that extends beneath the nail root and contains nerves, lymph and blood vessels. The matrix is responsible for the production of the cells that become the nail plate. The width and thickness of the nail plate is determined by the size, length, and thickness of the matrix, while the shape of the fingertip itself determines if the nail plate is flat, arched, or hooked. The matrix will continue to grow as long as it receives nutrition and remains in a healthy condition. As new nail plate cells are incubated, they emerge from the matrix round and white to push older nail plate cells forward; and in this way yet older cells become compressed, flat, and translucent, making the pink colour of the capillaries in the nail bed below visible[WP]. http://purl.obolibrary.org/obo/UBERON_0002283 onychostroma|keratogenous membrane|matrix unguis|nail germinal matrix|nail root MONDO:0017638 manganese poisoning biolink:Disease mondo ICD10:T57.2|MESH:D020149|ICD9:503|MedDRA:10058951|Orphanet:306682|SCTID:88687001|EFO:1001808 Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213) MEDDRA:10058951|UMLS:C0677050|MESH:D020149|SNOMEDCT:88687001|ORPHA:306682 http://purl.obolibrary.org/obo/MONDO_0017638 manganese intoxication|Manganism ordo_disease UBERON:0002285 telencephalic ventricle biolink:AnatomicalEntity mondo A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere http://purl.obolibrary.org/obo/UBERON_0002285 forebrain ventricle|telencephalic vesicle|telencephalic ventricle|lateral ventricle of brain|telencephalon lateral ventricle|telencephalic ventricles|lateral ventricles|tectal ventricle|lateral ventricle MONDO:0017639 carbon monoxide-induced parkinsonism biolink:Disease mondo UMLS:C0393565|ICD10:G21.2|Orphanet:306686|SCTID:230293003 UMLS:C0393565|SNOMEDCT:230293003|ORPHA:306686 http://purl.obolibrary.org/obo/MONDO_0017639 CO-induced parkinsonism ordo_disease MONDO:0017633 rare intoxication due to medical products biolink:Disease mondo UMLS:CN227165|Orphanet:306640 UMLS:CN227165|ORPHA:306640 http://purl.obolibrary.org/obo/MONDO_0017633 ordo_group_of_disorders|obsoletion_candidate RO:0004029 disease has feature biolink:OntologyClass mondo RO:0004029 A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. http://purl.obolibrary.org/obo/RO_0004029 RO:0004028 realized in response to stimulus biolink:OntologyClass mondo RO:0004028 A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. http://purl.obolibrary.org/obo/RO_0004028 MONDO:0017634 non-infectious anterior uveitis biolink:Disease mondo UMLS:C0339317|SCTID:267619000|Orphanet:306648 SNOMEDCT:267619000|ORPHA:306648|UMLS:C0339317 http://purl.obolibrary.org/obo/MONDO_0017634 non-infectious iridocyclitis ordo_group_of_disorders MONDO:0017635 parkinsonian syndrome due to neurodegenerative disease biolink:Disease mondo Orphanet:306666|UMLS:CN203530 UMLS:CN203530|ORPHA:306666 http://purl.obolibrary.org/obo/MONDO_0017635 ordo_group_of_disorders CHEBI:35856 lipoxygenase inhibitor biolink:ChemicalSubstance mondo A compound or agent that combines with lipoxygenase and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of the icosanoid products hydroxyicosatetraenoic acid and various leukotrienes. http://purl.obolibrary.org/obo/CHEBI_35856 lipoxygenase inhibitors|lipooxygenase inhibitor MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome biolink:Disease mondo Orphanet:306669|ICD10:G20|UMLS:CN203531 Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated. UMLS:CN203531|ORPHA:306669 http://purl.obolibrary.org/obo/MONDO_0017636 Hp-HA syndrome ordo_disease NCBITaxon:8028 Salmo organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8028 Salmothymus|Acantholingua HGNC:9023 PKP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9023 MONDO:0017630 X-linked complicated spastic paraplegia type 1 biolink:Disease mondo GARD:0012525|UMLS:CN203524|Orphanet:306617 An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain. UMLS:CN203524|ORPHA:306617 http://purl.obolibrary.org/obo/MONDO_0017630 SPG1 ordo_clinical_subtype HGNC:9024 PKP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/9024 MONDO:0017631 rare tumor of gallbladder and extrahepatic biliary tract biolink:Disease mondo Orphanet:306633|UMLS:C0750952 UMLS:C0750952|ORPHA:306633 http://purl.obolibrary.org/obo/MONDO_0017631 rare tumor of gallbladder and EBT ordo_group_of_disorders|obsoletion_candidate NCBITaxon:56212 Calomys musculinus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_56212 drylands vesper mouse MONDO:0017632 obsolete rare tumor of liver and intrahepatic biliary tract biolink:Disease mondo Orphanet:306636 Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence. ORPHA:306636 http://purl.obolibrary.org/obo/MONDO_0017632 rare liver and intrahepatic bile duct neoplasm|rare tumor of liver and IBT obsoletion_candidate|ordo_group_of_disorders NCBITaxon:56211 Calomys laucha organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_56211 small vesper mouse UBERON:0002286 third ventricle biolink:AnatomicalEntity mondo Part of the ventricular system of the brain, forming a single large cavity in the midline of the diencephalon; it is continuous with the lateral ventricles through the interventricular foramen and the fourth ventricle through the cerebral aqueduct. (Maryann Martone) http://purl.obolibrary.org/obo/UBERON_0002286 3rd ventricle|ventriculus diencephali|ventriculus tertius cerebri|diencephalic vesicle|diencephalic ventricle NCBITaxon:8022 Oncorhynchus mykiss organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8022 rainbow trout|Oncorhynchus nerka mykiss|Salmo mykiss|Parasalmo mykiss UBERON:0002288 choroid plexus of third ventricle biolink:AnatomicalEntity mondo Part of choroid plexus contained in the third ventricle http://purl.obolibrary.org/obo/UBERON_0002288 chorioid plexus of cerebral hemisphere of third ventricle|third ventricle choroid plexus|choroid plexus third ventricle|third ventricle chorioid plexus of cerebral hemisphere|3rd ventricle choroid plexus|diencephalic choroid plexus|chorioid plexus of third ventricle MONDO:0005659 atrophic rhinitis biolink:Disease mondo UMLS:C0035459|EFO:0007159|UMLS:C0030105|MESH:D012222|SCTID:69646003|DOID:4731 A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena). UMLS:C0035459|UMLS:C0030105|MESH:D012222|DOID:4731|SNOMEDCT:69646003 http://purl.obolibrary.org/obo/MONDO_0005659 rhinitis, atrophic|ozena|rhinitis sicca|dry rhinitis|Ozaena MONDO:0005658 Astroviridae infectious disease biolink:Disease mondo EFO:0007158|MESH:D019350|UMLS:C0376550 Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets. UMLS:C0376550|MESH:D019350 http://purl.obolibrary.org/obo/MONDO_0005658 MONDO:0005655 ascaridiasis biolink:Disease mondo MESH:D001198|EFO:0007155|SCTID:76160002|DOID:3108|ICD10:B77|UMLS:C0003952 Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea. SNOMEDCT:76160002|MESH:D001198|UMLS:C0003952|DOID:3108 http://purl.obolibrary.org/obo/MONDO_0005655 infection by Ascaridia|ascaridiosis|infection caused by Ascaridia|Ascaridia infectious disease|Ascaridia caused disease or disorder|Ascaridia disease or disorder MONDO:0005654 ascariasis biolink:Disease mondo UMLS:C0003950|DOID:456|NCIT:C128392|COHD:192259|EFO:0007154|CSP:1248-7284|SCTID:2435008|ICD9:127.0|MESH:D001196|ICD10:B77.9|ICD10:B77 An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur. UMLS:C0003950|MESH:D001196|DOID:456|SNOMEDCT:2435008|NCIT:C128392 http://purl.obolibrary.org/obo/MONDO_0005654 Ascaris lumbricoides infectious disease|Ascaris lumbricoides disease or disorder|Ascaris lumbricoides caused disease or disorder|ascariasis - roundworm|Ascaris lumbricoides infection CHEBI:23888 drug biolink:ChemicalSubstance mondo Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. http://purl.obolibrary.org/obo/CHEBI_23888 medicine|drugs MONDO:0005657 aspergillosis biolink:Disease mondo ICD9:117.3|ICD10:B44.8|EFO:0007157|Orphanet:1163|ICD10:B44.7|UMLS:C0004030|ICD10:B44|DOID:13564|ICD10:B44.9|ICD10:B44.2|MedDRA:10003488|SCTID:65553006|NCIT:C2886|ICD10:B44.1|MESH:D001228|ICD10:B44.0|COHD:434281|GARD:0005856|CSP:1988-4002 Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas. MEDDRA:10003488|UMLS:C0004030|MESH:D001228|ORPHA:1163|NCIT:C2886|SNOMEDCT:65553006|DOID:13564 http://purl.obolibrary.org/obo/MONDO_0005657 infection due to Aspergillus ordo_disease|gard_rare MONDO:0005656 Ascaridida infectious disease biolink:Disease mondo EFO:0007156|MESH:D017191 Infections with nematodes of the order ascaridida. MESH:D017191 http://purl.obolibrary.org/obo/MONDO_0005656 Ascaridida caused disease or disorder|infection, Ascaridida|Ascaridida disease or disorder|infections, Ascaridida|Ascaridida infection MONDO:0005651 arenavirus hemorrhagic fever biolink:Disease mondo UMLS:C0153112|EFO:0007151|SCTID:73730005|ICD9:078.7 A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. UMLS:C0153112|SNOMEDCT:73730005 http://purl.obolibrary.org/obo/MONDO_0005651 arenaviral hemorrhagic fever RO:0004025 disease causes dysfunction of biolink:OntologyClass mondo RO:0004025 http://purl.obolibrary.org/obo/RO_0004025 MONDO:0005650 Arenaviridae infectious disease biolink:Disease mondo ICD9:078.89|EFO:0007150|SCTID:3303004|MESH:D001117 Virus diseases caused by the arenaviridae. MESH:D001117|SNOMEDCT:3303004 http://purl.obolibrary.org/obo/MONDO_0005650 arenavirus infectious disease|Arenaviridae disease or disorder|infection, Arenaviridae|infection, arenavirus|Arenaviridae caused disease or disorder|infections, Arenaviridae|disease due to arenavirus|arenavirus infections|Arenaviridae infection|infections, arenavirus|disease caused by arenavirus|arenavirus infection RO:0004024 disease disrupts biolink:OntologyClass mondo RO:0004024 A relationship between a disease and a process where the disease process disrupts the execution of the process. http://purl.obolibrary.org/obo/RO_0004024 MONDO:0005653 obsolete asbestosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005653 RO:0004027 disease has inflammation site biolink:OntologyClass mondo RO:0004027 A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity http://purl.obolibrary.org/obo/RO_0004027 RO:0004026 disease has location biolink:OntologyClass mondo RO:0004026 A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. http://purl.obolibrary.org/obo/RO_0004026 MONDO:0005652 Arterivirus infectious disease biolink:Disease mondo EFO:0007152|UMLS:C0206604|MESH:D018174 Infections caused by viruses of the genus arterivirus. UMLS:C0206604|MESH:D018174 http://purl.obolibrary.org/obo/MONDO_0005652 Arterivirus caused disease or disorder|Arterivirus disease or disorder MONDO:0017619 congenital sucrase-isomaltase deficiency with minimal starch tolerance biolink:Disease mondo ICD10:E74.3|Orphanet:306446 ORPHA:306446 http://purl.obolibrary.org/obo/MONDO_0017619 congenital sucrase-isomaltose malabsorption with minimal starch tolerance|congenital sucrose intolerance with minimal starch tolerance|disaccharide intolerance with minimal starch tolerance|CSID with minimal starch tolerance ordo_clinical_subtype RO:0004021 disease has basis in disruption of biolink:OntologyClass mondo RO:0004021 A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. http://purl.obolibrary.org/obo/RO_0004021 RO:0004020 disease has basis in dysfunction of biolink:OntologyClass mondo RO:0004020 A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. http://purl.obolibrary.org/obo/RO_0004020 RO:0004023 causal relationship with disease as subject biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004023 RO:0004022 disease arises from feature biolink:OntologyClass mondo RO:0004022 A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. http://purl.obolibrary.org/obo/RO_0004022 MONDO:0017626 familial primary hypomagnesemia with normocalcuria biolink:Disease mondo ICD10:E83.4|Orphanet:306522|UMLS:CN227164 Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. UMLS:CN227164|ORPHA:306522 http://purl.obolibrary.org/obo/MONDO_0017626 ordo_group_of_disorders NCBITaxon:8030 Salmo salar organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8030 Atlantic salmon MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome biolink:Disease mondo ICD10:Q87.0|Orphanet:306530|SCTID:722389002 Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. ORPHA:306530|SNOMEDCT:722389002 http://purl.obolibrary.org/obo/MONDO_0017627 congenital hereditary facial paralysis-variable deafness syndrome|congenital hereditary facial palsy with variable hearing loss|congenital hereditary facial paralysis with variable deafness|congenital hereditary facial palsy with variable deafness ordo_morphological_anomaly MONDO:0017628 myospherulosis biolink:Disease mondo ICD9:136.8|SCTID:81139004|Orphanet:306553|UMLS:C0027123 SNOMEDCT:81139004|UMLS:C0027123|ORPHA:306553 http://purl.obolibrary.org/obo/MONDO_0017628 subcutaneous spherulocystic disease|spherulocytosis ordo_disease HP:0006705 Abnormal atrioventricular valve morphology biolink:PhenotypicFeature mondo UMLS:C4024995 An abnormality of an atrioventricular valve. http://purl.obolibrary.org/obo/HP_0006705 Abnormality of the atrioventricular valves MONDO:0017629 sodium channelopathy-related small fiber neuropathy biolink:Disease mondo Orphanet:306577 ORPHA:306577 http://purl.obolibrary.org/obo/MONDO_0017629 ordo_disease MONDO:0017622 congenital sucrase-isomaltase deficiency without sucrose intolerance biolink:Disease mondo Orphanet:306486|ICD10:E74.3 ORPHA:306486 http://purl.obolibrary.org/obo/MONDO_0017622 congenital sucrose-isomaltose malabsorption without sucrose intolerance|disaccharide intolerance without sucrose intolerance|CSID without sucrose intolerance ordo_clinical_subtype RO:0004018 is basis for realizable biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004018 RO:0004017 realizable has basis in biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004017 MONDO:0017623 PTEN hamartoma tumor syndrome biolink:Disease mondo SCTID:722859001|UMLS:C1959582|DOID:0080191|Orphanet:306498|GARD:0012800 A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. ORPHA:306498|DOID:0080191|SNOMEDCT:722859001|UMLS:C1959582 http://purl.obolibrary.org/obo/MONDO_0017623 PHTS gard_rare|ordo_group_of_disorders|clingen MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis biolink:Disease mondo Orphanet:306516|ICD10:E83.4|GARD:0009891|UMLS:CN203511 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). UMLS:CN203511|ORPHA:306516 http://purl.obolibrary.org/obo/MONDO_0017624 FHHNC|Michellis-Castrillo syndrome gard_rare|ordo_group_of_disorders UBERON:0002270 hyaloid artery biolink:AnatomicalEntity mondo An artery that is part of the optic stalk of the eye and extends from the optic disc through the vitreous humor to the lens. http://purl.obolibrary.org/obo/UBERON_0002270 hyaloid arteries|central artery of retina|arteria hyaloidea|Cloquets canal|Cloquet's canal MONDO:0017625 familial primary hypomagnesemia with hypocalcuria biolink:Disease mondo SCTID:711151004|UMLS:CN227163|Orphanet:306519 UMLS:CN227163|ORPHA:306519|SNOMEDCT:711151004 http://purl.obolibrary.org/obo/MONDO_0017625 ordo_group_of_disorders RO:0004019 disease has basis in biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004019 CHEBI:59814 L-alpha-amino acid anion biolink:ChemicalSubstance mondo Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group. http://purl.obolibrary.org/obo/CHEBI_59814 L-alpha-amino carboxylate UBERON:0002279 vestibular aqueduct biolink:AnatomicalEntity mondo At the hinder part of the medial wall of the vestibule is the orifice of the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone. It transmits a small vein, and contains a tubular prolongation of the membranous labyrinth, the ductus endolymphaticus, which ends in a cul-de-sac between the layers of the dura mater within the cranial cavity. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002279 aqueductus vestibuli MONDO:0017620 congenital sucrase-isomaltase deficiency without starch intolerance biolink:Disease mondo ICD10:E74.3|Orphanet:306462 ORPHA:306462 http://purl.obolibrary.org/obo/MONDO_0017620 CSID without starch intolerance|disaccharide intolerance without starch intolerance|congenital sucrose intolerance without starch intolerance|congenital sucrase-isomaltose malabsorption without starch intolerance ordo_clinical_subtype MONDO:0017621 congenital sucrase-isomaltase deficiency with starch and lactose intolerance biolink:Disease mondo Orphanet:306474|ICD10:E74.3 ORPHA:306474 http://purl.obolibrary.org/obo/MONDO_0017621 congenital sucrase-isomaltose malabsorption with starch and lactose intolerance|congenital sucrose intolerance with starch and lactose intolerance|disaccharide intolerance with starch and lactose intolerance|CSID with starch and lactose intolerance ordo_clinical_subtype HGNC:9038 PLA2G5 biolink:OntologyClass mondo http://identifiers.org/hgnc/9038 UBERON:0002275 reticular formation biolink:AnatomicalEntity mondo A composite substructure of the brainstem that consists of the midbrain reticular formation, the pontine reticular formation and the medullary reticular formation ( Carpenter-1983 ). http://purl.obolibrary.org/obo/UBERON_0002275 brain stem reticular formation|brainstem reticular formation|reticular formation of the brainstem|reticular formation (classical) HGNC:9039 PLA2G6 biolink:OntologyClass mondo http://identifiers.org/hgnc/9039 MONDO:0005626 epithelial neoplasm biolink:Disease mondo NCIT:C3709|MESH:D009375|EFO:0006858 A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. NCIT:C3709|MESH:D009375 http://purl.obolibrary.org/obo/MONDO_0005626 epithelioma|epithelial neoplasm|epithelial neoplasms, NOS MONDO:0005625 cerebral malaria biolink:Disease mondo MESH:D016779|UMLS:C0024534|DOID:14069|NCIT:C128373|Wikipedia:Malaria|ICD9:084.9|ICD10:B50.0|SCTID:53622003|EFO:0006857 A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures. NCIT:C128373|UMLS:C0024534|SNOMEDCT:53622003|MESH:D016779|DOID:14069 http://purl.obolibrary.org/obo/MONDO_0005625 malarial encephalitis MONDO:0005628 male breast carcinoma biolink:Disease mondo SCTID:372095001|UMLS:C0238033|NCIT:C3862|MESH:D018567|EFO:0006861|UMLS:C0242787|DOID:1614|GARD:0009312|ICD9:175.9|UMLS:C0242788 A malignant neoplasm involving the male breast. MESH:D018567|DOID:1614|SNOMEDCT:372095001|UMLS:C0238033|NCIT:C3862|UMLS:C0242788|UMLS:C0242787 http://purl.obolibrary.org/obo/MONDO_0005628 carcinoma of the Male breast|carcinoma of Male breast|breast cancer in men|Male breast cancer|male breast cancer|Male breast carcinoma|neoplasm of male breast|malignant neoplasm of male breast|breast cancer, male|carcinoma of male breast|male breast carcinoma MONDO:0005627 head and neck cancer biolink:Disease mondo UMLS:C0278996|NCIT:C4013|DOID:11934|EFO:0006859 A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. UMLS:C0278996|NCIT:C4013|DOID:11934 http://purl.obolibrary.org/obo/MONDO_0005627 malignant head and neck tumor|malignant neoplasm of craniocervical region|head and neck malignant neoplasia|malignant tumor of the head and neck|craniocervical region cancer|malignant tumor of head and neck|cancer of the head and neck|malignant head and neck neoplasm|cancer of head and neck|malignant craniocervical region neoplasm|head and neck neoplasm|head and neck tumours|head and neck cancer, NOS|cancer of craniocervical region|tumor of head and neck|head and neck cancer|head/neck neoplasm|malignant neoplasm of the head and neck|malignant neoplasm of head and neck MONDO:0005622 obsolete vasculitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005622 MONDO:0005621 vascular brain injury biolink:Disease mondo MESH:D020214|EFO:0006791 Damage to the blood vessels of the brain MESH:D020214 http://purl.obolibrary.org/obo/MONDO_0005621 Vascular trauma, Brain|Vascular injury, Brain|Vascular Brain injury|Vascular Brain Injuries|Brain Vascular injury|Brain Vascular trauma|injury, Brain Vascular|Brain injury, Vascular|trauma, Brain Vascular|injury, Vascular Brain|injury, Vascular, Brain|trauma, cerebrovascular|Vascular Traumas, Brain MONDO:0005624 atrophic thyroiditis biolink:Disease mondo UMLS:C0238183|EFO:0006813|SCTID:83664006 Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. SNOMEDCT:83664006|UMLS:C0238183 http://purl.obolibrary.org/obo/MONDO_0005624 MONDO:0005623 autoimmune thyroid disease biolink:Disease mondo MESH:D013967|Wikipedia:Autoimmune_thyroiditis|EFO:0006812|GARD:0006945 Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis. MESH:D013967 http://purl.obolibrary.org/obo/MONDO_0005623 autoimmune thyroid gland inflammation|thyroiditides, lymphocytic|thyroiditis, lymphocytic|thyroiditis, lymphomatous|thyroiditides, lymphomatous|thyroiditides, autoimmune|lymphomatous thyroiditis|lymphomatous thyroiditides|autoimmune thyroiditis|lymphocytic thyroiditis|autoimmune thyroiditides|lymphocytic thyroiditides HGNC:9040 PLA2G7 biolink:OntologyClass mondo http://identifiers.org/hgnc/9040 MONDO:0005620 cerebral amyloid angiopathy biolink:Disease mondo NCIT:C84625|ICD9:277.39|COHD:4045749|EFO:0006790|ICD10:I68.0|DOID:9246|ICD10:E85.4+|GARD:0010266|SCTID:230724001|Orphanet:85458|MESH:D016657|ICD10:I68.0* Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. DOID:9246|SNOMEDCT:230724001|NCIT:C84625|MESH:D016657|ORPHA:85458 http://purl.obolibrary.org/obo/MONDO_0005620 CAA, familial|dutch hereditary cerebral amyloid angiopathy|HCHWA|hereditary cerebral haemorrhage with amyloidosis - Dutch type|cerebral amyloid angiopathy, genetic|cerebral amyloid angiopathy, familial ordo_disease MONDO:0017608 dystrophic epidermolysis bullosa biolink:Disease mondo Orphanet:303|GARD:0002150|ICD10:Q81.2 Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other. ORPHA:303 http://purl.obolibrary.org/obo/MONDO_0017608 Dermolytic epidermolysis bullosa|epidermolysis bullosa dystrophica|DEB|epidermolysis bullosa, dermolytic ordo_group_of_disorders RO:0004010 is genetic basis for condition biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004010 MONDO:0017609 renal tubular dysgenesis biolink:Disease mondo Orphanet:3033|SCTID:702397002|ICD10:Q63.8|GARD:0000379 Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. UMLS:C0266313|SNOMEDCT:702397002|ORPHA:3033 http://purl.obolibrary.org/obo/MONDO_0017609 primitive renal tubule syndrome|renotubular dysgenesis ordo_malformation_syndrome RO:0004011 is causal gain of function germline mutation of in biolink:OntologyClass mondo Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet]. http://purl.obolibrary.org/obo/RO_0004011 MONDO:0017615 benign familial infantile epilepsy biolink:Disease mondo DOID:0060169|OMIMPS:601764|ICD9:V17.2|SCTID:230410004|ICD10:G40.3|UMLS:CN203492|GARD:0000857|Orphanet:306 Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. DOID:0060169|SNOMEDCT:230410004|UMLS:CN203492|ORPHA:306 http://purl.obolibrary.org/obo/MONDO_0017615 BFIC|BFIS|BFIE|benign familial infantile convulsion|benign familial infantile convulsions|benign familial infantile seizures|seizures, benign familial infantile gard_rare|clingen|ordo_disease MONDO:0017616 X-linked intellectual disability, Schutz type biolink:Disease mondo Orphanet:3062|ICD10:Q87.8 ORPHA:3062 http://purl.obolibrary.org/obo/MONDO_0017616 ordo_disease MONDO:0017617 acquired adult-onset immunodeficiency biolink:Disease mondo ICD10:D84.8|Orphanet:306431|GARD:0011992 A acquired immunodeficiency that occurs in an adult. ORPHA:306431 http://purl.obolibrary.org/obo/MONDO_0017617 adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies|adult onset immunodeficiency syndrome|adult-onset immunodeficiency due to anti-interferon-gamma autoantibody|adult-onset immunodeficiency with anti-interferon-gamma autoantibodies|acquired immunodeficiency of adults|anti-IFN-gamma autoantibody syndrome|adult acquired immunodeficiency ordo_disease MONDO:0017618 congenital sucrase-isomaltase deficiency with starch intolerance biolink:Disease mondo ICD10:E74.3|Orphanet:306436 ORPHA:306436 http://purl.obolibrary.org/obo/MONDO_0017618 congenital sucrase-isomaltose malabsorption with starch intolerance|disaccharide intolerance with starch intolerance|congenital sucrose intolerance with starch intolerance|CSID with starch intolerance ordo_clinical_subtype MONDO:0017611 pituitary tumor biolink:Disease mondo UMLS:C0032019|Orphanet:304055|SCTID:127024001|ICD9:239.7|NCIT:C3330 A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. SNOMEDCT:127024001|UMLS:C0032019|NCIT:C3330|ORPHA:304055 http://purl.obolibrary.org/obo/MONDO_0017611 pituitary gland neoplasm|pituitary tumor|tumor of the pituitary gland|neoplasm of pituitary gland|pituitary gland tumor|tumor of the pituitary|tumor of pituitary|neoplasm of the pituitary gland|tumor of pituitary gland|neoplasm of the pituitary|pituitary neoplasm|neoplasm of pituitary ordo_group_of_disorders MONDO:0017612 junctional epidermolysis bullosa biolink:Disease mondo Orphanet:305|SCTID:79855003|UMLS:C0079301|NCIT:C90598|GARD:0002152|DOID:3209|MESH:D016109 Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. DOID:3209|NCIT:C90598|MESH:D016109|SNOMEDCT:79855003|ORPHA:305|UMLS:C0079301 http://purl.obolibrary.org/obo/MONDO_0017612 EBJ|epidermolysis bullosa hereditaria letalis|epidermolysis bullosa, junctional|JEB|epidermolysis bullosa atrophicans|congenital junctional epidermolysis bullosa gard_rare|ordo_group_of_disorders MONDO:0017613 intellectual disability-hypotonia-skin hyperpigmentation syndrome biolink:Disease mondo GARD:0003441|Orphanet:3050 ORPHA:3050 http://purl.obolibrary.org/obo/MONDO_0017613 Medrano Roldan syndrome|Medrano-Roldan syndrome ordo_disease|gard_rare NCBITaxon:44281 Pneumocystidaceae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_44281 MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome biolink:Disease mondo UMLS:C0796264|Orphanet:3055|GARD:0000345|MESH:C536715|ICD10:Q87.8 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. MESH:C536715|ORPHA:3055|UMLS:C0796264 http://purl.obolibrary.org/obo/MONDO_0017614 X-linked intellectual disability - short stature – obesity|Sex-linked mental retardation, short stature, obesity and hypogonadism|Sex-linked intellectual disability, short stature, obesity and hypogonadism|Young-Hughes syndrome ordo_malformation_syndrome NCBITaxon:8006 Salmoniformes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8006 salmons and trouts HGNC:9045 PLAG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9045 UBERON:0002268 olfactory organ biolink:AnatomicalEntity mondo An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. http://purl.obolibrary.org/obo/UBERON_0002268 olfactory neuroepithelium|organum olfactorium|primary olfactory organ|organ olfactus|olfactory organ|main olfactory organ|olfactory sensory organ|olfactory sense organ HGNC:9046 PLAGL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/9046 MONDO:0017610 epidermolysis bullosa simplex biolink:Disease mondo Orphanet:304|NCIT:C84692|ICD10:Q81.0|UMLS:C0079298|MESH:D016110|ICD9:757.39|GARD:0010752|SCTID:67144006|DOID:4644 Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. SNOMEDCT:67144006|MESH:D016110|NCIT:C84692|ORPHA:304|UMLS:C0079298|DOID:4644 http://purl.obolibrary.org/obo/MONDO_0017610 epidermolysis bullosa intraepidermic|epidermolysis bullosa simplex|EBS|EEB ordo_group_of_disorders|gard_rare MONDO:0005619 typhoid fever biolink:Disease mondo COHD:192819|MESH:D014435|EFO:0006789|ICD10:A01.00|Orphanet:99745|DOID:13258|NCIT:C35089|UMLS:C0041466|ICD10:A01.0|SCTID:4834000|GARD:0009564|ICD9:002.0 A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. NCIT:C35089|MESH:D014435|SNOMEDCT:4834000|ORPHA:99745|UMLS:C0041466|DOID:13258 http://purl.obolibrary.org/obo/MONDO_0005619 typhoid|typhoid fever|typhoidal salmonellosis ordo_disease UBERON:0002265 olfactory tract biolink:AnatomicalEntity mondo White matter tract that contains projections from the olfactory bulb to other parts of the brain http://purl.obolibrary.org/obo/UBERON_0002265 tractus olfactorius|olfactory stalk|tractus olfactorium|olfactory peduncle|pedunclulus olfactorius MONDO:0005618 anxiety disorder biolink:Disease mondo ICD9:300.09|ICD10:F41.9|EFO:0006788|DOID:2030|COHD:442077|MESH:D001008|NCIT:C2878|SCTID:197480006 A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. NCIT:C2878|SNOMEDCT:197480006|DOID:2030|MESH:D001008 http://purl.obolibrary.org/obo/MONDO_0005618 anxiety state|anxiety disorder|anxiety UBERON:0002264 olfactory bulb biolink:AnatomicalEntity mondo A bulbous anterior projection of the olfactory lobe that is the place of termination of the olfactory nerves and is especially well developed in lower vertebrates (as fishes)[BTO]. http://purl.obolibrary.org/obo/UBERON_0002264 olfactory lobe|bulbus olfactorius (Morgagni)|bulbus olfactorius|olfactory lobe (Barr & Kiernan)|bulbus olfactorius MONDO:0005637 obsolete adult-onset Still disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005637 obsolete adult-onset Still's disease MONDO:0005636 adenosarcoma biolink:Disease mondo UMLS:C0001442|ICDO:8933/3|NCIT:C9474|EFO:0007134|MESH:D018195|DOID:1974 A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites. MESH:D018195|DOID:1974|UMLS:C0001442|NCIT:C9474 http://purl.obolibrary.org/obo/MONDO_0005636 adenosarcoma (morphologic abnormality)|Müllerian adenosarcoma|mullerian adenosarcoma|adenosarcoma|Mullerian adenosarcoma MONDO:0005639 AIDS related complex biolink:Disease mondo EFO:0007137|UMLS:C0001857|MESH:D000386 A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids. UMLS:C0001857|MESH:D000386 http://purl.obolibrary.org/obo/MONDO_0005639 MONDO:0005638 agnosia biolink:Disease mondo NCIT:C84542|EFO:0007136|SCTID:68345001|ICD10:R48.1|ICD10:R48.2|GARD:0000008|MESH:D000377|DOID:4090 A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes. SNOMEDCT:68345001|NCIT:C84542|MESH:D000377|DOID:4090 http://purl.obolibrary.org/obo/MONDO_0005638 primary visual agnosia|dyspraxia (finding)|Monomodal visual amnesia|dyspraxia syndrome|agnosia|visual amnesia|dyspraxia gard_rare MONDO:0005633 obsolete acute disseminated encephalomyelitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005633 HGNC:9052 PLAU biolink:OntologyClass mondo http://identifiers.org/hgnc/9052 MONDO:0005632 acute chest syndrome biolink:Disease mondo MESH:D056586|ICD9:517.3|COHD:254062|DOID:1584|UMLS:C0742343|SCTID:372146004|NCIT:C138179|EFO:0007129 A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia. NCIT:C138179|SNOMEDCT:372146004|DOID:1584|UMLS:C0742343|MESH:D056586 http://purl.obolibrary.org/obo/MONDO_0005632 ACS|acute chest syndrome in sickle cell disease CHEBI:47811 penamcarboxylate biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_47811 penamcarboxylates MONDO:0005635 adenomyoma biolink:Disease mondo MESH:D018194|DOID:2609|EFO:0007133|ICDO:8932/0|UMLS:C0206622|NCIT:C3726 A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy. UMLS:C0206622|MESH:D018194|DOID:2609|NCIT:C3726 http://purl.obolibrary.org/obo/MONDO_0005635 adenomyoma, benign|adenomyoma (morphologic abnormality)|adenomyoma MONDO:0005634 acute hemorrhagic conjunctivitis biolink:Disease mondo MESH:D003232|NCIT:C34505|ICD9:077.4|DOID:11227|SCTID:398264003|EFO:0007131|UMLS:C0009765 Acute conjunctivitis that is characterized by bleeding into the conjunctiva. DOID:11227|SNOMEDCT:398264003|MESH:D003232|NCIT:C34505|UMLS:C0009765 http://purl.obolibrary.org/obo/MONDO_0005634 epidemic hemorrhagic conjunctivitis|Apollo disease|viral conjunctivitis HGNC:9051 PLAT biolink:OntologyClass mondo http://identifiers.org/hgnc/9051 MONDO:0005631 actinomycosis biolink:Disease mondo ICD9:039|ICD9:039.9|ICD10:A42.9|MESH:D000196|ICD10:A42.8|ICD10:A42.7|GARD:0005728|Orphanet:457095|COHD:436020|ICD10:A42.2|UMLS:C0001261|ICD10:A42|DOID:8478|ICD10:A42.1|NCIT:C34350|EFO:0007128|ICD10:A42.0 Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious. ORPHA:457095|DOID:8478|UMLS:C0001261|MESH:D000196|NCIT:C34350 http://purl.obolibrary.org/obo/MONDO_0005631 Keratoactinomycosis|boil|infections, Actinomyces|Actinomyces israeli|actinomycotic madura foot|actinomycotic mycetoma of foot|actinomycotic mycetema|Actinomyces infection|canaliculitis|actinomycotic infection|actinomycetoma|anaerobic Actinomyces infection|Madura foot due to Actinomadura|Actinomycetes gard_rare|ordo_disease MONDO:0005630 actinobacillosis biolink:Disease mondo UMLS:C0001247|SCTID:16140007|MESH:D000187|DOID:4974|EFO:0007127 A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs. SNOMEDCT:16140007|UMLS:C0001247|MESH:D000187|DOID:4974 http://purl.obolibrary.org/obo/MONDO_0005630 actinobacillosis, NOS RO:0004001 has material basis in gain of function germline mutation in biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004001 UBERON:0016896 periosteum of long bone biolink:AnatomicalEntity mondo A periosteum that is part of a long bone. http://purl.obolibrary.org/obo/UBERON_0016896 long bone periosteum RO:0004000 condition has genetic basis in biolink:OntologyClass mondo http://purl.obolibrary.org/obo/RO_0004000 MONDO:0017604 marginal zone lymphoma biolink:Disease mondo UMLS:C1367654|SCTID:447100004|ONCOTREE:MZL|DOID:0050748|NCIT:C4341|Orphanet:300912|GARD:0013237|ICDO:9699/3|EFO:1000630 A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. SNOMEDCT:447100004|DOID:0050748|UMLS:C1367654|NCIT:C4341|ORPHA:300912 http://purl.obolibrary.org/obo/MONDO_0017604 lymphoma of marginal zone B cell|marginal zone B-cell lymphoma|MZL|MZBCL|marginal zone lymphoma|marginal zone B cell lymphoma ordo_group_of_disorders MONDO:0017605 obsolete ependymal tumor biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017605 MONDO:0017606 facial nerve palsy due to herpes zoster infection biolink:Disease mondo GARD:0007525|Orphanet:3020|ICD10:G53.0*|ICD10:B02.2+ ORPHA:3020 http://purl.obolibrary.org/obo/MONDO_0017606 Ramsay Hunt syndrome|Hunt syndrome (formerly)|Ramsay Hunt syndrome type 2 (formerly)|Hunt's syndrome (formerly)|facial nerve paralysis due to VZV|facial nerve palsy due to VZV ordo_disease MONDO:0017607 caudal regression sequence biolink:Disease mondo GARD:0006007|MedDRA:10059387|Orphanet:3027|UMLS:C1838568|MedDRA:10054842|NCIT:C124505|UMLS:C1867774|MedDRA:10068896|ICD10:Q76.0 Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. UMLS:C0344490|MEDDRA:10059387|UMLS:C1838568|UMLS:C0300948|UMLS:C1867774|NCIT:C124505|MEDDRA:10068896|ORPHA:3027|MEDDRA:10054842 http://purl.obolibrary.org/obo/MONDO_0017607 sacral agenesis syndrome|caudal dysplasia|sacral regression syndrome ordo_malformation_syndrome MONDO:0017600 hairy cell leukemia variant biolink:Disease mondo DOID:713|ICD10:C91.4|UMLS:C0349633|MedDRA:10019054|ICDO:9591/3|NCIT:C7401|SCTID:277568007|Orphanet:300878 Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C). DOID:713|NCIT:C7401|UMLS:C0349633|ORPHA:300878|MEDDRA:10019054|SNOMEDCT:277568007 http://purl.obolibrary.org/obo/MONDO_0017600 hairy cell leukaemia variant|prolymphocytic variant of hairy cell leukemia|leukemic reticuloendotheliosis variant|HCL-v|prolymphocytic variant of HCL|HCL-V|hairy cell leukemia variant ordo_disease MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation biolink:Disease mondo ICD10:C83.3|Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs. ORPHA:300888 http://purl.obolibrary.org/obo/MONDO_0017601 DLBCL with chronic inflammation ordo_disease CHEBI:35842 antirheumatic drug biolink:ChemicalSubstance mondo A drug used to treat rheumatoid arthritis. http://purl.obolibrary.org/obo/CHEBI_35842 anti-rheumatic drugs|antirheumatic agent|antirheumatic drugs MONDO:0017602 ALK-positive anaplastic large cell lymphoma biolink:Disease mondo Orphanet:300895|ICDO:9714/3|NCIT:C37193|ICD10:C84.6|UMLS:C1332079 ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK). ORPHA:300895|NCIT:C37193|UMLS:C1332079 http://purl.obolibrary.org/obo/MONDO_0017602 anaplastic large cell lymphoma, ALK-positive|ALK-positive anaplastic large cell lymphoma|ALK+ ALCL|ALCL, ALK+|ALKoma|ALK+ anaplastic large cell lymphoma ordo_histopathological_subtype MONDO:0017603 ALK-negative anaplastic large cell lymphoma biolink:Disease mondo ICDO:9702/3|EFO:1000083|NCIT:C37194|ICD10:C84.7|Orphanet:300903|UMLS:C1332078 ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK). ORPHA:300903|NCIT:C37194|UMLS:C1332078 http://purl.obolibrary.org/obo/MONDO_0017603 ALK-negative anaplastic large cell lymphoma|ALK- ALCL|ALK- anaplastic large cell lymphoma|ALCL, ALK-|anaplastic large cell lymphoma, ALK-negative ordo_histopathological_subtype UBERON:0002257 ventral horn of spinal cord biolink:AnatomicalEntity mondo The ventral grey column of the spinal cord[MP]. The neurons of the ventral region of the mature spinal cord participate in motor output[GO]. http://purl.obolibrary.org/obo/UBERON_0002257 ventral region of spinal cord|spinal cord anterior horn|ventral horn spinal cord|columna grisea anterior medullae spinalis|ventral grey horn|anterior horn|cornu anterius medullae spinalis|spinal cord ventral horn|anterior grey column of spinal cord|ventral grey column of spinal cord|ventral horn of the spinal cord|ventral spinal cord|anterior column|anterior horn (spinal cord)|anterior column of the spinal cord|ventral horns spinal cord|ventral gray matter of spinal cord|anterior gray horn of spinal cord|anterior gray column of spinal cord|ventral gray column of spinal cord NCBITaxon:8016 Oncorhynchus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8016 Parasalmo NCBITaxon:8015 Salmonidae organism taxon mondo GC_ID:1|PMID:15062801 http://purl.obolibrary.org/obo/NCBITaxon_8015 salmonids MONDO:0005629 Acanthamoeba keratitis biolink:Disease mondo GARD:0009285|SCTID:231896005|EFO:0007126|MedDRA:10069408|ICD10:B60.1+|MESH:D015823|UMLS:C0000880|ICD9:370.8|NCIT:C50450|Orphanet:67043|ICD10:H19.2* Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear. NCIT:C50450|ORPHA:67043|UMLS:C0000880|MEDDRA:10069408|SNOMEDCT:231896005|MESH:D015823 http://purl.obolibrary.org/obo/MONDO_0005629 keratitis, Acanthamoeba|Acanthamoeba caused keratitis ordo_disease|gard_rare HGNC:9059 PLCB4 biolink:OntologyClass mondo http://identifiers.org/hgnc/9059 HGNC:877 ALDH7A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/877 UBERON:0004938 submucosa of biliary tree biolink:AnatomicalEntity mondo A submucosa that is part of a biliary tree [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004938 submucosa of biliary tract|biliary tree submucosa|biliary tract submucosa UBERON:0004939 submucosa of common bile duct biolink:AnatomicalEntity mondo A submucosa that is part of a common bile duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004939 common bile duct submucosa|common bile ductal submucosa|submucosa of ductus choledochus (biliaris)|ductus choledochus (biliaris) submucosa UBERON:0004936 submucosa of pyloric antrum biolink:AnatomicalEntity mondo A submucosa that is part of a pyloric antrum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004936 stomach pyloric antrum submucosa|antrum of stomach submucosa|submucosa of stomach pyloric antrum|pyloric antrum submucosa|submucosa of antrum of stomach UBERON:0004937 submucosa of pylorus biolink:AnatomicalEntity mondo A submucosa that is part of a pylorus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004937 pyloric part of stomach submucosa|submucosa of stomach pyloric region|pylorus submucosa|pyloric submucosa|submucosa of pyloric part of stomach|stomach pyloric region submucosa UBERON:0004934 submucosa of body of stomach biolink:AnatomicalEntity mondo A submucosa that is part of a body of stomach [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004934 stomach body submucosa|submucosa of gastric body|corpus gastricum (ventriculare) submucosa|submucosa of stomach body|gastric body submucosa|submucosa of corpus gastricum (ventriculare)|body of stomach submucosa UBERON:0004935 submucosa of cardia of stomach biolink:AnatomicalEntity mondo A submucosa that is part of a cardia of stomach [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004935 submucosa of stomach cardiac region|gastric cardia submucosa|cardia of stomach submucosa|pars cardiaca (gaster) submucosa|stomach cardiac region submucosa|submucosa of cardial part of stomach|submucosa of gastric cardia|cardial part of stomach submucosa|submucosa of pars cardiaca (gaster) HGNC:870 ATP7B biolink:OntologyClass mondo http://identifiers.org/hgnc/870 GO:0007113 endomitotic cell cycle biolink:OntologyClass mondo A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. http://purl.obolibrary.org/obo/GO_0007113 endomitosis GO:0010769 regulation of cell morphogenesis involved in differentiation biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. http://purl.obolibrary.org/obo/GO_0010769 UBERON:0004943 submucosa of urinary bladder biolink:AnatomicalEntity mondo The submucous layer of the wall of the urinary bladder. http://purl.obolibrary.org/obo/UBERON_0004943 tela submucosa vesicae|submucous layer of urinary bladder|submucosa of bladder|bladder submucosa|tela submucosa vesicae urinariae|tela submucosa (vesica urinaria)|urinary bladder submucosa UBERON:0004944 submucosa of trigone of urinary bladder biolink:AnatomicalEntity mondo A submucosa that is part of a trigone of urinary bladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004944 trigone of urinary bladder submucosa|submucosa of urinary bladder trigone|submucosa of Lieutaud ' s trigone|deep trigone submucosa|submucosa of vesical trigone|urinary bladder trigone submucosa|vesical trigone submucosa|trigone of bladder submucosa|submucosa of deep trigone|Lieutaud ' s trigone submucosa|submucosa of trigone of bladder UBERON:0004941 submucosa of right hepatic duct biolink:AnatomicalEntity mondo A submucosa that is part of a right hepatic duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004941 right hepatic duct submucosa|right hepatic ductal submucosa UBERON:0004942 submucosa of left hepatic duct biolink:AnatomicalEntity mondo A submucosa that is part of a left hepatic duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004942 left hepatic ductal submucosa|left hepatic duct submucosa UBERON:0004940 submucosa of common hepatic duct biolink:AnatomicalEntity mondo A submucosa that is part of a common hepatic duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004940 common hepatic duct submucosa|common hepatic ductal submucosa|hepatic duct submucosa|submucosa of hepatic duct HGNC:869 ATP7A biolink:OntologyClass mondo http://identifiers.org/hgnc/869 HGNC:868 ATP6AP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/868 UBERON:0004929 submucosa of ascending colon biolink:AnatomicalEntity mondo A submucosa that is part of an ascending colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004929 ascending colon submucosa HGNC:888 KIF1A biolink:OntologyClass mondo http://identifiers.org/hgnc/888 UBERON:0004927 submucosa of cecum biolink:AnatomicalEntity mondo A submucosa that is part of a cecum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004927 submucosa of caecum|cecum submucosa|submucosa of intestinum crassum caecum|intestinum crassum caecum submucosa|caecum submucosa UBERON:0004928 submucosa of appendix biolink:AnatomicalEntity mondo A submucosa that is part of an appendix [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004928 submucosa of vermiform appendix|appendiceal submucosa|appendix submucosa|vermix submucosa|vermiform appendix submucosa|submucosa of caecal appendix|submucosa of vermix|caecal appendix submucosa HGNC:886 ATRX biolink:OntologyClass mondo http://identifiers.org/hgnc/886 UBERON:0004925 submucosa of laryngopharynx biolink:AnatomicalEntity mondo A submucosa that is part of a hypopharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004925 submucosa of hypopharynx|hypopharynx submucosa|submucosa of laryngeal pharynx|laryngeal pharynx submucosa|tela submucosa (pars laryngea pharyngis)|laryngopharynx submucosa UBERON:0004926 submucosa of cystic duct biolink:AnatomicalEntity mondo A submucosa that is part of a cystic duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004926 cystic ductal submucosa|cystic duct submucosa UBERON:0004923 organ component layer biolink:AnatomicalEntity mondo A part of a wall of an organ that forms a layer. http://purl.obolibrary.org/obo/UBERON_0004923 UBERON:0004924 submucosa of pharynx biolink:AnatomicalEntity mondo The tissue underlying the tunica mucosa of the pharynx. http://purl.obolibrary.org/obo/UBERON_0004924 submucous coat of pharynx|tela submucosa pharyngea|pharyngobasilar fascia|pharynx submucosa|tela submucosa pharyngis|pharyngeal submucosa|submucous layer of pharynx HGNC:882 ATR biolink:OntologyClass mondo http://identifiers.org/hgnc/882 GO:0009790 embryo development biolink:OntologyClass mondo The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/GO_0009790 embryogenesis|embryogenesis and morphogenesis|embryonal development GO:0010770 positive regulation of cell morphogenesis involved in differentiation biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. http://purl.obolibrary.org/obo/GO_0010770 GO:0010771 negative regulation of cell morphogenesis involved in differentiation biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. http://purl.obolibrary.org/obo/GO_0010771 UBERON:0004932 submucosa of sigmoid colon biolink:AnatomicalEntity mondo A submucosa that is part of a sigmoid colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004932 sigmoid colon submucosa UBERON:0004933 submucosa of fundus of stomach biolink:AnatomicalEntity mondo A submucosa that is part of a fundus of stomach [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004933 fundus of stomach submucosa|fundus gastricus (ventricularis) submucosa|submucosa of stomach fundus|submucosa of fundus gastricus (ventricularis)|stomach fundus submucosa UBERON:0004930 submucosa of transverse colon biolink:AnatomicalEntity mondo A submucosa that is part of a transverse colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004930 transverse colon submucosa UBERON:0004931 submucosa of descending colon biolink:AnatomicalEntity mondo A submucosa that is part of a descending colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004931 descending colon submucosa UBERON:0004919 external urethral sphincter biolink:AnatomicalEntity mondo . http://purl.obolibrary.org/obo/UBERON_0004919 musculus sphincter urethrae membranaceae|external urethral sphincter muscle|urethralis|external sphincter muscle of urethra|m. urethralis|external sphincter of urethra|urethralis muscle|annulus urethralis UBERON:0004916 anal sphincter biolink:AnatomicalEntity mondo A sphincter muscle that is part of a anal region. http://purl.obolibrary.org/obo/UBERON_0004916 sphincter analia|anal region sphincter HGNC:854 ATP6V1B2 biolink:OntologyClass mondo http://identifiers.org/hgnc/854 UBERON:0004917 urethral sphincter biolink:AnatomicalEntity mondo A sphincter muscle surrounding the urethra. http://purl.obolibrary.org/obo/UBERON_0004917 urethral sphincter muscle|sphincter muscle of urethra|sphincter urethrae|sphincter of urethra HGNC:853 ATP6V1B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/853 UBERON:0004914 duodenal papilla biolink:AnatomicalEntity mondo One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0004914 papilla duodenalis|papilla duodeni|papilla of duodenum UBERON:0004915 sphincter of hepatopancreatic ampulla biolink:AnatomicalEntity mondo muscular valve that controls the flow of digestive juices (bile and pancreatic juice) through the ampulla of Vater into the second part of the duodenum. Relaxed by the hormone Cholecystokinin (CCK) via vasoactive intestinal polypeptide (VIP).[WP]. http://purl.obolibrary.org/obo/UBERON_0004915 sphincter of Oddi|musculus sphincter ampullae hepatopancreatica|musculus sphincter ampullae|hepatopancreatic ampullary sphincter|sphincter of ampulla of vater|Oddi's sphincter UBERON:0004912 biliary bud biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0004912 hepatic diverticulum UBERON:0004913 hepatopancreatic ampulla biolink:AnatomicalEntity mondo A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0004913 biliaropancreatic ampulla|ampulla of Vater|ampulla hepatopancreatica|papilla Vateri|ampulla of bile duct|papilla duodeni major|Vater's ampulla|ampulla biliaropancreatica|ampulla Vaterii GO:0071708 immunoglobulin light chain V-J recombination biolink:OntologyClass mondo The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/GO_0071708 immunoglobulin V(D)J recombination|immunoglobulin V(D)J joining|immunoglobulin V-J joining GO:0071707 immunoglobulin heavy chain V-D-J recombination biolink:OntologyClass mondo The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/GO_0071707 immunoglobulin V(D)J recombination|immunoglobulin V-D-J joining|immunoglobulin V(D)J joining GO:0071705 nitrogen compound transport biolink:OntologyClass mondo The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0071705 GO:0071704 organic substance metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/GO_0071704 organic molecular entity metabolism|organic substance metabolism|organic molecular entity metabolic process GO:0009755 hormone-mediated signaling pathway biolink:OntologyClass mondo A series of molecular signals mediated by the detection of a hormone. http://purl.obolibrary.org/obo/GO_0009755 hormone mediated signalling GO:0071702 organic substance transport biolink:OntologyClass mondo The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. http://purl.obolibrary.org/obo/GO_0071702 UBERON:0004921 subdivision of digestive tract biolink:AnatomicalEntity mondo A proximal-distal subdivision of the digestive tract. http://purl.obolibrary.org/obo/UBERON_0004921 alimentary system subdivision|subdivision of alimentary system|intestinal tract|segment of intestinal tract UBERON:0004907 lower digestive tract biolink:AnatomicalEntity mondo The region of the digestive tract extending from the beginning of the intestines to the anus[GO - gut definition]. http://purl.obolibrary.org/obo/UBERON_0004907 lower gastrointestinal tract|gut|lower GI tract UBERON:0004908 upper digestive tract biolink:AnatomicalEntity mondo The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. http://purl.obolibrary.org/obo/UBERON_0004908 upper GI tract|upper gastrointestinal tract HGNC:866 ATP6V0A4 biolink:OntologyClass mondo http://identifiers.org/hgnc/866 UBERON:0004905 articulation biolink:AnatomicalEntity mondo Anatomical cluster that connects two or more adjacent skeletal elements or hardened body parts. http://purl.obolibrary.org/obo/UBERON_0004905 joint UBERON:0004906 ectodermal part of digestive tract biolink:AnatomicalEntity mondo A portion of the gut that is derived from ectoderm. http://purl.obolibrary.org/obo/UBERON_0004906 gut ectoderm|ectodermal gut UBERON:0004904 neuron projection bundle connecting eye with brain biolink:AnatomicalEntity mondo A neuron projection bundle that connects the retina or its analog in the eye with the brain. This includes the vertebrate optic nerve (not truly a nerve) as well as analogous structures such as the Bolwig nerve in Drosophila http://purl.obolibrary.org/obo/UBERON_0004904 optic nerve (generic)|optic nerve UBERON:0004901 right lung lobar bronchus mesenchyme biolink:AnatomicalEntity mondo The right lung lobar bronchus mesenchyme is a type of tissue made up of loosely-packed mesenchymal cells in the right lung lobar bronchus http://purl.obolibrary.org/obo/UBERON_0004901 UBERON:0004902 urogenital sinus epithelium biolink:AnatomicalEntity mondo The fetal urogenital sinus (from which the prostate derives) is a simple cylinder of stratified basal epithelium, surrounded by mesenchyme and positioned between the embryonic bladder and pelvic urethra http://purl.obolibrary.org/obo/UBERON_0004902 epithelium of urogenital sinus|UGE UBERON:0004909 epithelium of gonad biolink:AnatomicalEntity mondo An epithelium surrounding a gonad. http://purl.obolibrary.org/obo/UBERON_0004909 gonadal epithelium|gonad epithelium|gonadal sheath UBERON:0004910 epithelium of male gonad biolink:AnatomicalEntity mondo An epithelium surrounding a testis. http://purl.obolibrary.org/obo/UBERON_0004910 testis sheath|testis epithelium UBERON:0004911 epithelium of female gonad biolink:AnatomicalEntity mondo An epithelium surrounding an ovary. http://purl.obolibrary.org/obo/UBERON_0004911 ovarian sheath|ovarian epithelium|ovary epithelium UBERON:0002316 white matter biolink:AnatomicalEntity mondo Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. http://purl.obolibrary.org/obo/UBERON_0002316 substantia alba|white matter of neuraxis|white mater|CNS tracts and commissures|CNS tract/commissure|CNS white matter|neuronal white matter|white substance UBERON:0002318 white matter of spinal cord biolink:AnatomicalEntity mondo The regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. http://purl.obolibrary.org/obo/UBERON_0002318 spinal cord white matter|substantia alba medullae spinalis|spinal cord white matter of neuraxis|white matter of neuraxis of spinal cord|white substance of spinal cord|spinal cord white substance GO:0010721 negative regulation of cell development biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/GO_0010721 UBERON:0004980 mucosa of ureter biolink:AnatomicalEntity mondo A mucosa that is part of a ureter [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004980 tunica mucosa (ureter)|ureter mucosa of organ|ureteric mucosa|ureteral mucosa|mucosal layer of ureter|tunica mucosa ureteris|ureter mucous membrane|ureter mucosa|mucosa of organ of ureter|ureter organ mucosa|organ mucosa of ureter|mucous membrane of ureter GO:0044108 cellular alcohol biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, carried out at the level of an individual cell. http://purl.obolibrary.org/obo/GO_0044108 GO:0010720 positive regulation of cell development biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/GO_0010720 GO:0044106 cellular amine metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. http://purl.obolibrary.org/obo/GO_0044106 GO:0044107 cellular alcohol metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044107 UBERON:0002324 muscle of back biolink:AnatomicalEntity mondo Any muscle organ that is part of a back [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002324 muscle organ of back|back muscle organ|back muscle UBERON:0004987 mucosa of laryngopharynx biolink:AnatomicalEntity mondo A mucosa that is part of a hypopharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004987 laryngopharynx mucosa|laryngopharynx organ mucosa|laryngopharynx mucous membrane|organ mucosa of hypopharynx|hypopharynx mucosa of organ|mucous membrane of hypopharynx|mucosa of organ of laryngopharynx|mucosa of hypopharynx|laryngeal pharynx mucosa|laryngeal pharynx organ mucosa|laryngeal pharynx mucosa of organ|mucous membrane of laryngeal pharynx|mucosa of organ of hypopharynx|hypopharynx mucous membrane|organ mucosa of laryngeal pharynx|mucous membrane of laryngopharynx|organ mucosa of laryngopharynx|mucosa of laryngeal pharynx|hypopharynx mucosa|hypopharynx organ mucosa|mucosa of organ of laryngeal pharynx|laryngeal pharynx mucous membrane|laryngopharynx mucosa of organ UBERON:0002323 coelemic cavity lumen biolink:AnatomicalEntity mondo The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. http://purl.obolibrary.org/obo/UBERON_0002323 space of body compartment|celom|ventral body cavity|coelome|main body cavity|hemocoel|coelom|coelomic cavity|body cavity|coelomic cavity lumen UBERON:0004988 mucosa of cystic duct biolink:AnatomicalEntity mondo A mucosa that is part of a cystic duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004988 cystic duct mucous membrane|mucosa of organ of cystic duct|cystic duct mucosa|cystic duct organ mucosa|mucous membrane of cystic duct|organ mucosa of cystic duct|cystic duct mucosa of organ|cystic ductal mucosa UBERON:0004985 mucosa of ejaculatory duct biolink:AnatomicalEntity mondo A mucosa that is part of a ejaculatory duct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004985 ejaculatory duct organ mucosa|ejaculatory duct mucosa of organ|ejaculatory duct mucous membrane|mucosa of organ of ejaculatory duct|ejaculatory ductal mucosa|organ mucosa of ejaculatory duct|mucous membrane of ejaculatory duct|ejaculatory duct mucosa UBERON:0002326 lamina propria of urethra biolink:AnatomicalEntity mondo A lamina propria that is part of a urethra [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002326 urethral lamina propria|lamina propria mucosae of urethra|urethra lamina propria mucosae|urethra lamina propria mucosa|urethra lamina propria|lamina propria mucosa of urethra UBERON:0004986 mucosa of deferent duct biolink:AnatomicalEntity mondo A mucosa that is part of a vas deferens [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004986 mucosa of organ of vas deferen|vas deferen mucous membrane|sperm duct mucosa|sperm duct organ mucosa|vas deferens mucosa|tunica mucosa (ductus deferens)|vas deferens mucous membrane|vas deferens organ mucosa|sperm duct mucous membrane|vas deferen mucosa|mucosa of organ of vas deferens|organ mucosa of deferent duct|mucous membrane of deferent duct|deferent duct mucosa of organ|ductus deferens mucosa of organ|mucosa of organ of sperm duct|vas deferen organ mucosa|mucous membrane of ductus deferens|deferent ductal mucosa|organ mucosa of ductus deferens|mucosa of ductus deferens|mucosa of vas deferens|tunica mucosa ductus deferentis|mucosa of organ of deferent duct|mucous membrane of vas deferens|mucosa of sperm duct|ductus deferens mucosa|organ mucosa of vas deferens|deferent duct mucous membrane|organ mucosa of vas deferen|mucosa of organ of ductus deferens|ductus deferens organ mucosa|organ mucosa of sperm duct|deferent duct mucosa|mucous membrane of vas deferen|mucous membrane of sperm duct|vas deferen mucosa of organ|ductus deferens mucous membrane|mucosa of vas deferen|deferent duct organ mucosa|vas deferens mucosa of organ|sperm duct mucosa of organ UBERON:0002325 epithelium of urethra biolink:AnatomicalEntity mondo The urethra is a renal system organ that carries urine from the bladder to outside the body. The epithelium is the tubular, planar layer of cells through which the urine passes.. http://purl.obolibrary.org/obo/UBERON_0002325 urethra epithelial tissue|urethral epithelium|urethral plate|urethra epithelium|epithelial tissue of urethra|urethral seam UBERON:0004983 mucosa of vagina biolink:AnatomicalEntity mondo A mucosa that is part of a vagina [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004983 vagina mucosa|vagina mucous membrane|vagina organ mucosa|mucosa of organ of vagina|tunica mucosa vaginae|mucous membrane of vagina|organ mucosa of vagina|vaginal mucosa|vagina mucosa of organ UBERON:0004984 mucosa of seminal vesicle biolink:AnatomicalEntity mondo A mucosa that is part of a seminal vesicle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004984 seminal gland organ mucosa|mucosa of organ of seminal vesicle|organ mucosa of seminal gland|seminal gland mucosa of organ|seminal vesicle mucous membrane|mucous membrane of seminal gland|tunica mucosa glandulae vesiculosae|mucosa of seminal gland|seminal vesicle mucosa|seminal vesicle organ mucosa|mucosa of organ of seminal gland|seminal gland mucous membrane|mucous membrane of seminal vesicle|seminal vesicle mucosa of organ|organ mucosa of seminal vesicle|seminal gland mucosa UBERON:0004982 mucosa of epiglottis biolink:AnatomicalEntity mondo A mucosa that is part of a epiglottis [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004982 organ mucosa of epiglottis|mucous membrane of epiglottis|epiglottis mucosa|epiglottis mucosa of organ|epiglottis organ mucosa|epiglottis mucous membrane|mucosa of organ of epiglottis UBERON:0002305 layer of hippocampus biolink:AnatomicalEntity mondo The layers of the laminar structure of the hippocampus. http://purl.obolibrary.org/obo/UBERON_0002305 layer of cornu ammonis|cytoarchitectural fields of hippocampal formation|hippocampus proper layer|hippocampus layer UBERON:0002308 nucleus of brain biolink:AnatomicalEntity mondo A neural nucleus that is part of the brain. http://purl.obolibrary.org/obo/UBERON_0002308 brain nucleus|brain nuclei UBERON:0002307 choroid plexus of lateral ventricle biolink:AnatomicalEntity mondo Part of choroid plexus contained in the lateral ventricle http://purl.obolibrary.org/obo/UBERON_0002307 chorioid plexus of lateral ventricle|chorioid plexus of cerebral hemisphere of lateral ventricle|lateral ventricle choroid plexus|lateral ventricle chorioid plexus of cerebral hemisphere|choroid plexus telencephalic ventricle GO:0044111 development involved in symbiotic interaction biolink:OntologyClass mondo The progression of an organism from an initial condition to a later condition, occurring when the organism is in a symbiotic interaction. http://purl.obolibrary.org/obo/GO_0044111 development on or near surface of other organism involved in symbiotic interaction|development during symbiotic interaction|development on or near surface of other organism during symbiotic interaction GO:0009743 response to carbohydrate biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate stimulus GO:0009746 response to hexose biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/GO_0009746 response to hexose stimulus UBERON:0002315 gray matter of spinal cord biolink:AnatomicalEntity mondo The ridge-shaped grey matter of the spinal cord that extends longitudunally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue. http://purl.obolibrary.org/obo/UBERON_0002315 grey matter of spinal cord|gray substance of spinal cord|spinal cord grey matter|spinal cord gray matter|spinal cord grey substance|substantia grisea medullae spinalis|gray matter of spinal cord|grey substance of spinal cord GO:0009749 response to glucose biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/GO_0009749 response to glucose stimulus HGNC:838 ATP5F1E biolink:OntologyClass mondo http://identifiers.org/hgnc/838 HGNC:812 ATP2A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/812 HGNC:811 ATP2A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/811 FOODON:03411433 shellfish biolink:OntologyClass mondo The term shellfish is used both broadly and specifically. For regulatory purposes it is often narrowly defined as filter-feeding molluscs such as clams, mussels, and oyster to the exclusion of crustaceans and all else. Although their shells may differ, all shellfish are invertebrates. http://purl.obolibrary.org/obo/FOODON_03411433 CHEBI:47788 3-oxo steroid biolink:ChemicalSubstance mondo Any oxo steroid where an oxo substituent is located at position 3. http://purl.obolibrary.org/obo/CHEBI_47788 3-oxosteroids|3-Oxosteroid|a 3-oxosteroid|3-oxo steroids GO:0009712 catechol-containing compound metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent. http://purl.obolibrary.org/obo/GO_0009712 catechol metabolic process|catechol metabolism UBERON:0002302 myocardium of atrium biolink:AnatomicalEntity mondo the atrial part of middle layer of the heart, comprised of involuntary muscle http://purl.obolibrary.org/obo/UBERON_0002302 atrium cardiac muscle|atrium myocardium|atrial myocardium GO:0071745 IgA immunoglobulin complex biolink:OntologyClass mondo A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0071745 IgA1 antibody|IgA2 antibody UBERON:0002301 layer of neocortex biolink:AnatomicalEntity mondo One of the layers of the neocortex. http://purl.obolibrary.org/obo/UBERON_0002301 lamina of neocortex|layer of neocortex|cerebral cortex layer|neocortex layer|cortical layer GO:0009713 catechol-containing compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent. http://purl.obolibrary.org/obo/GO_0009713 catechol formation|catechol biosynthesis|catechol biosynthetic process|catechol anabolism|catechol synthesis UBERON:0002304 layer of dentate gyrus biolink:AnatomicalEntity mondo One of the three layers of the dentate gyrus of the hippocampal formation. http://purl.obolibrary.org/obo/UBERON_0002304 dentate gyrus layer|dentate gyrus cell layer GO:0071742 IgE immunoglobulin complex biolink:OntologyClass mondo A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0071742 HGNC:804 ATP1B1 biolink:OntologyClass mondo http://identifiers.org/hgnc/804 GO:0009719 response to endogenous stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/GO_0009719 HGNC:823 ATP5F1A biolink:OntologyClass mondo http://identifiers.org/hgnc/823 UBERON:0004949 submucosa of main bronchus biolink:AnatomicalEntity mondo A submucosa that is part of a main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004949 bronchus principalis submucosa|submucosa of primary bronchus|main bronchial submucosa|main bronchus submucosa|principal bronchus submucosa|submucosa of bronchus principalis|primary bronchus submucosa|submucosa of principal bronchus UBERON:0004947 submucosa of right main bronchus biolink:AnatomicalEntity mondo A submucosa that is part of a right main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004947 right principal bronchus submucosa|right bronchus submucosa|right main bronchus submucosa|submucosa of right principal bronchus|submucosa of right bronchus|right main bronchial submucosa UBERON:0004948 submucosa of left main bronchus biolink:AnatomicalEntity mondo A submucosa that is part of a left main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004948 left bronchus submucosa|left main bronchial submucosa|left main bronchus submucosa|submucosa of left principal bronchus|submucosa of left bronchus|left principal bronchus submucosa UBERON:0004945 submucosa of neck of urinary bladder biolink:AnatomicalEntity mondo A submucosa that is part of a neck of urinary bladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004945 vesical neck submucosa|urinary bladder neck submucosa|submucosa of bladder neck|neck of urinary bladder submucosa|submucosa of vesical neck|submucosa of neck of bladder|submucosa of urinary bladder neck|neck of bladder submucosa|bladder neck submucosa UBERON:0004946 submucosa of ileum biolink:AnatomicalEntity mondo A submucosa that is part of a ileum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004946 ileum submucosa|ileal submucosa NCBITaxon:142786 Norovirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_142786 Norwalk-like viruses UBERON:0016928 metaphysis of fibula biolink:AnatomicalEntity mondo A metaphysis that is part of a fibula. http://purl.obolibrary.org/obo/UBERON_0016928 fibular metaphysis|fibula metaphysis GO:0071738 IgD immunoglobulin complex biolink:OntologyClass mondo A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0071738 GO:0071735 IgG immunoglobulin complex biolink:OntologyClass mondo A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0071735 IgG4|IgG3|IgG2c|IgG2|IgG2b|IgG1|IgG2a GO:0009725 response to hormone biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/GO_0009725 response to hormone stimulus|growth regulator UBERON:0004952 submucosa of bronchiole biolink:AnatomicalEntity mondo A submucosa that is part of a bronchiole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004952 submucosa of lobular bronchiole|bronchiole submucosa|lobular bronchiole submucosa UBERON:0004950 submucosa of lobar bronchus biolink:AnatomicalEntity mondo A submucosa that is part of a lobar bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004950 lobar bronchus submucosa|lobar bronchial submucosa|secondary bronchus submucosa|submucosa of secondary bronchus UBERON:0004951 submucosa of segmental bronchus biolink:AnatomicalEntity mondo A submucosa that is part of a segmental bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004951 segmental bronchus submucosa|submucosa of tertiary bronchus|tertiary bronchus submucosa|segmental bronchial submucosa HGNC:815 ATP2B2 biolink:OntologyClass mondo http://identifiers.org/hgnc/815 GO:0019184 nonribosomal peptide biosynthetic process biolink:OntologyClass mondo The biosynthetic process in which peptide bond formation occurs in the absence of the translational machinery. Examples include the synthesis of antibiotic peptides, and glutathione. http://purl.obolibrary.org/obo/GO_0019184 nonribosomal peptide anabolism|non-ribosomal peptide biosynthesis|non-ribosomal peptide biosynthetic process|nonribosomal peptide biosynthesis|nonribosomal peptide synthesis|non-ribosomal peptide synthesis|nonribosomal peptide formation|non-ribosomal peptide formation|nonribosomal peptide synthetase ECTO:0000231 chemical entity exposure biolink:OntologyClass mondo An exposure to chemical entity. http://purl.obolibrary.org/obo/ECTO_0000231 exposure to chemical entity MONDO:0042486 polyposis syndrome, hereditary mixed, 1 biolink:Disease mondo OMIM:601228 http://identifiers.org/omim/601228 http://purl.obolibrary.org/obo/MONDO_0042486 colorectal cancer, susceptibility to, on chromosome 15|colorectal cancer, susceptibility to, 4|HMPS1|chromosome 15Q13-q14 Duplication syndrome, 40-Kb|polyposis syndrome, hereditary mixed, 1; HMPS1|colorectal adenoma and carcinoma 1 predisposition MONDO:0042487 uterine cervix carcinoma in situ biolink:Disease mondo ICD10:D06|NCIT:C4000|ICD10:D06.9|SCTID:254889004|ICD10CM:D06|DOID:8991|COHD:194611|ICD10CM:D06.9|MESH:D018290|UMLS:C0851140|ICD9:233.1 Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003 MESH:D018290|UMLS:C0851140|NCIT:C4000|DOID:8991|SNOMEDCT:254889004 http://purl.obolibrary.org/obo/MONDO_0042487 carcinoma in situ of the uterine cervix aJCC v6|intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6|FIGO stage 0 cervical carcinoma|severe dysplasia of the cervix uteri|FIGO stage 0 carcinoma of the uterine cervix|grade 3 cervical intraepithelial neoplasia aJCC v6|stage 0 uterine cervix carcinoma|severe dysplasia of cervix|uterine cervix Severe dysplasia aJCC v6|carcinoma in situ of uterine cervix|severe dysplasia of cervix aJCC v6|cervix intraepithelial neoplasia grade 3 aJCC v6|cervix uteri Severe dysplasia aJCC v6|cervix carcinoma in situ aJCC v6|severe dysplasia of the cervix aJCC v6|cervical intraepithelial neoplasia grade III with severe dysplasia|FIGO stage 0 cervix carcinoma|cervix uteri intraepithelial neoplasia grade 3 aJCC v6|stage 0 cervical cancer aJCC v6|cervix Severe dysplasia aJCC v6|severe dysplasia of cervix uteri aJCC v6|cervical cancer stage 0 aJCC v6|cervix uteri carcinoma in situ aJCC v6|CIN grade 3 aJCC v6|uterine cervix carcinoma in situ aJCC v6|severe dysplasia of uterine cervix aJCC v6|CIN III|severe dysplasia of the cervix uteri aJCC v6|uterine cervix intraepithelial neoplasia grade 3 aJCC v6|severe dysplasia of the uterine cervix aJCC v6|FIGO stage 0 cervix uteri carcinoma|carcinoma in situ of cervix|FIGO stage 0 uterine cervix carcinoma|CIN III - severe dyskaryosis|FIGO stage 0 carcinoma of cervix|carcinoma in situ of cervix aJCC v6|cervix uteri carcinoma in situ|intraepithelial neoplasia of cervix grade 3 aJCC v6|CIN III - carcinoma in situ of cervix|FIGO stage 0 carcinoma of the cervix|carcinoma in situ of the cervix aJCC v6|intraepithelial neoplasia of the cervix grade 3 aJCC v6|cervical Severe dysplasia aJCC v6|carcinoma of cervix stage 0|intraepithelial neoplasia of cervix uteri grade 3 aJCC v6|stage 0 cervical cancer|FIGO stage 0 carcinoma of cervix uteri|cervix Ca in situ|carcinoma in situ of cervix uteri aJCC v6|squamous intraepithelial neoplasia, grade III|cervical carcinoma in situ aJCC v6|cervical intraepithelial neoplasia grade 3 aJCC v6|intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6|carcinoma in situ of the cervix uteri aJCC v6|FIGO stage 0 carcinoma of the cervix uteri|FIGO stage 0 carcinoma of uterine cervix|CIN 3 aJCC v6|severe cervical dysplasia aJCC v6|intraepithelial neoplasia of uterine cervix grade 3 aJCC v6|carcinoma in situ of uterine cervix aJCC v6 MONDO:0042488 Cestode infectious disease biolink:Disease mondo EFO:1001287|MESH:D002590|SCTID:86133004|ICD9:123.9|ICD9:123.8 Infections with true tapeworms of the helminth subclass Cestoda. SNOMEDCT:86133004|MESH:D002590 http://purl.obolibrary.org/obo/MONDO_0042488 Coenuriasis|Raillietiniasis|Cestoda infectious disease|Dipylidiases|Cenuriases|Cestoda caused disease or disorder|cestode infestation|Cestodiasis|Dipylidiasis|Cenuriasis|infection, tapeworm|tapeworm infections|infections, cestode|infections, tapeworm|tapeworm infection|Bertielliases|Coenuriases|Cestoda disease or disorder|Raillietiniases|Cestodosis|infection, cestode|cestode infection|disease due to Cestoda|Bertielliasis MONDO:0042489 disease susceptibility biolink:Disease mondo MESH:D004198 A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. MESH:D004198 http://purl.obolibrary.org/obo/MONDO_0042489 susceptibilities, disease|disease susceptibilities|susceptibility, disease|diatheses|diathesis predisposition MONDO:0042484 disseminated sporotrichosis biolink:Disease mondo UMLS:C0276725|SCTID:91051003 UMLS:C0276725|SNOMEDCT:91051003 http://purl.obolibrary.org/obo/MONDO_0042484 disseminated sporotrichosis MONDO:0042485 infective arthritis biolink:Disease mondo GARD:0006781|NCIT:C26700 The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. NCIT:C26700 http://purl.obolibrary.org/obo/MONDO_0042485 infective arthritis|septic arthritis MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant biolink:Disease mondo MESH:C565969|OMIM:202700 http://identifiers.org/omim/202700|MESH:C565969 http://purl.obolibrary.org/obo/MONDO_0042490 SCN1|neutropenia, severe congenital, 1, autosomal dominant; SCN1|neutropenia, severe congenital, 1, autosomal dominant MONDO:0017490 tibial hemimelia, unilateral biolink:Disease mondo UMLS:CN203228|Orphanet:295077|ICD10:Q72.5 ORPHA:295077|UMLS:CN203228 http://purl.obolibrary.org/obo/MONDO_0017490 tibial longitudinal meromelia, unilateral ordo_clinical_subtype MONDO:0017491 tibial hemimelia, bilateral biolink:Disease mondo UMLS:CN203229|ICD10:Q72.5|Orphanet:295079 ORPHA:295079|UMLS:CN203229 http://purl.obolibrary.org/obo/MONDO_0017491 tibial longitudinal meromelia, bilateral ordo_clinical_subtype MONDO:0042491 cervical squamous intraepithelial neoplasia biolink:Disease mondo MESH:D065310|NCIT:C7346 A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures. MESH:D065310|NCIT:C7346 http://purl.obolibrary.org/obo/MONDO_0042491 CIN|cervix uteri squamous intraepithelial lesion|uterine cervix squamous intraepithelial lesion|squamous intraepithelial lesion of cervix|cervix uteri sil|squamous intraepithelial lesion of the cervix|uterine cervix sil|squamous intraepithelial lesion of cervix uteri|cervical squamous intraepithelial lesion|cervical squamous intraepithelial neoplasia|squamous intraepithelial lesion of the cervix uteri|squamous intraepithelial lesion of uterine cervix|squamous intraepithelial lesion of the uterine cervix|cervical sil|cervix squamous intraepithelial lesion ECTO:0000207 carbon monoxide exposure biolink:OntologyClass mondo An exposure to carbon monoxide. http://purl.obolibrary.org/obo/ECTO_0000207 exposure to carbon monoxide MONDO:0017492 fibular hemimelia, unilateral biolink:Disease mondo ICD10:Q72.6|Orphanet:295081 ORPHA:295081 http://purl.obolibrary.org/obo/MONDO_0017492 fibular longitudinal meromelia, unilateral ordo_clinical_subtype MONDO:0042492 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0042492 MONDO:0042497 mycotoxicosis biolink:Disease mondo SCTID:26033009|MESH:D015651 Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin). SNOMEDCT:26033009|MESH:D015651 http://purl.obolibrary.org/obo/MONDO_0042497 poisoning, fungus|Poisonings, fungus|Fungi poisoning|fungus Poisonings|Mycotoxicoses|fungus poisoning|Fungi caused poisoning MONDO:0042498 Ruzicka-Goerz-Anton syndrome biolink:Disease mondo GARD:0000210|UMLS:C2931438|MESH:C537192 UMLS:C2931438|MESH:C537192 http://purl.obolibrary.org/obo/MONDO_0042498 ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma|Ruzicka Goerz Anton syndrome|ichthyosis deafness intellectual disability skeletal anomalies|ichthyosis deafness mental retardation skeletal anomalies gard_rare CHEBI:140499 kaolinite biolink:ChemicalSubstance mondo An aluminosilicate mineral with approximate chemical composition H2Al2Si2O8.H2O. Rocks that are rich in kaolinite are known as kaolin or china clay. http://purl.obolibrary.org/obo/CHEBI_140499 MONDO:0042499 benign familial neonatal-infantile seizures 1 biolink:Disease mondo OMIM:601764|GARD:0000856 http://identifiers.org/omim/601764 http://purl.obolibrary.org/obo/MONDO_0042499 benign infantile familial convulsions 1|seizures, benign familial infantile, 1; BFIS1|seizures, benign familial infantile, 1|benign familial infantile convulsions syndrome|convulsions, benign familial infantile, 1|benign familial infantile convulsions syndrome 1|benign infantile familial convulsions|BFIC1|BFIS1 MONDO:0042493 gastric non-hodgkin lymphoma biolink:Disease mondo NCIT:C27235|UMLS:C1333784|GARD:0000089|SCTID:448709005 An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. UMLS:C1333784|SNOMEDCT:448709005|NCIT:C27235 http://purl.obolibrary.org/obo/MONDO_0042493 non-Hodgkin lymphoma of stomach|non-Hodgkins gastric lymphoma|lymphoma, gastric non Hodgkins type|gastric non-Hodgkin's lymphoma|non-Hodgkin's lymphoma of the stomach|primary gastric non-Hodgkin's lymphoma|non-Hodgkin's lymphoma of stomach|gastric non-Hodgkin lymphoma|stomach lymphoma, non-Hodgkins type|stomach non-Hodgkin lymphoma gard_rare MONDO:0042494 childhood malignant melanoma biolink:Disease mondo GARD:0000091|NCIT:C131506|UMLS:C4329660 A melanoma that occurs during childhood. UMLS:C4329660|NCIT:C131506 http://purl.obolibrary.org/obo/MONDO_0042494 pediatric melanoma (disease)|melanoma (disease) of childhood|childhood melanoma|pediatric melanoma (disease)|malignant melanoma, childhood|childhood melanoma (disease) gard_rare MONDO:0042495 arteriosclerotic retinopathy biolink:Disease mondo SCTID:95691008|UMLS:C0339478|ICD9:440.8|GARD:0000113 A arteriosclerosis disorder that involves the retina. SNOMEDCT:95691008|UMLS:C0339478 http://purl.obolibrary.org/obo/MONDO_0042495 retinal arteriosclerosis|retina arteriosclerosis disorder|retinopathy, arteriosclerotic|arteriosclerosis, retina|arteriosclerosis disorder of retina|arteriosclerotic retinopathy gard_rare MONDO:0042496 ergotism biolink:Disease mondo GARD:0000196|ICD9:988.2|SCTID:51510002|MESH:D004881 Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine. MESH:D004881|SNOMEDCT:51510002 http://purl.obolibrary.org/obo/MONDO_0042496 poisonings, ergot|poisoning, ergot|St. Anthony fire|Saint Anthony's fire|ergotisms|ergotism|Saint Anthonys fire|Saint Anthony fire|ergot poisonings|ergot poisoning|St. Anthonys fire|fire, St. Anthonys|St. Anthony's fire|St Anthony's fire gard_rare MONDO:0017497 congenital absence of thigh and lower leg with foot present, bilateral biolink:Disease mondo Orphanet:295091|ICD10:Q72.13|ICD10:Q72.1 ORPHA:295091 http://purl.obolibrary.org/obo/MONDO_0017497 Femorotibiofibular intercalary transverse meromelia, bilateral ordo_clinical_subtype MONDO:0017498 congenital absence of both forearm and hand, unilateral biolink:Disease mondo ICD10:Q71.2|Orphanet:295093 Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved. ORPHA:295093 http://purl.obolibrary.org/obo/MONDO_0017498 radio-ulnar terminal transverse meromelia, unilateral ordo_clinical_subtype MONDO:0017499 congenital absence of both forearm and hand, bilateral biolink:Disease mondo ICD10:Q71.2|ICD10:Q71.23|Orphanet:295095 Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. ORPHA:295095 http://purl.obolibrary.org/obo/MONDO_0017499 radio-ulnar terminal transverse meromelia, bilateral ordo_clinical_subtype MONDO:0017493 fibular hemimelia, bilateral biolink:Disease mondo ICD10:Q72.6|Orphanet:295083 ORPHA:295083 http://purl.obolibrary.org/obo/MONDO_0017493 fibular longitudinal meromelia, bilateral ordo_clinical_subtype MONDO:0017494 obsolete congenital absence of upper arm and forearm with hand present, unilateral biolink:Disease mondo ICD10:Q71.1|Orphanet:295085 ORPHA:295085 http://purl.obolibrary.org/obo/MONDO_0017494 humero-radio-ulnar intercalary transverse meromelia, unilateral MONDO:0017495 obsolete congenital absence of upper arm and forearm with hand present, bilateral biolink:Disease mondo ICD10:Q71.13|ICD10:Q71.1|Orphanet:295087 ORPHA:295087 http://purl.obolibrary.org/obo/MONDO_0017495 humero-radio-ulnar intercalary transverse meromelia, bilateral MONDO:0017496 congenital absence of thigh and lower leg with foot present, unilateral biolink:Disease mondo Orphanet:295089|ICD10:Q72.1 ORPHA:295089 http://purl.obolibrary.org/obo/MONDO_0017496 Femorotibiofibular intercalary transverse meromelia, unilateral ordo_clinical_subtype MONDO:0017480 amelia of lower limb, unilateral biolink:Disease mondo Orphanet:295057|ICD10:Q72.0 ORPHA:295057 http://purl.obolibrary.org/obo/MONDO_0017480 ordo_clinical_subtype MONDO:0017481 amelia of lower limb, bilateral biolink:Disease mondo Orphanet:295059|ICD10:Q72.0 ORPHA:295059 http://purl.obolibrary.org/obo/MONDO_0017481 ordo_clinical_subtype CHEBI:84735 algal metabolite biolink:ChemicalSubstance mondo Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae. http://purl.obolibrary.org/obo/CHEBI_84735 algal metabolites MONDO:0017486 radial hemimelia, unilateral biolink:Disease mondo Orphanet:295069|ICD10:Q71.4 ORPHA:295069 http://purl.obolibrary.org/obo/MONDO_0017486 radial longitidinal meromelia, unilateral ordo_clinical_subtype MONDO:0017487 radial hemimelia, bilateral biolink:Disease mondo ICD10:Q71.4|Orphanet:295071 ORPHA:295071 http://purl.obolibrary.org/obo/MONDO_0017487 radial longitidinal meromelia, bilateral ordo_clinical_subtype MONDO:0017488 ulnar hemimelia, bilateral biolink:Disease mondo ICD10:Q71.5|Orphanet:295073 ORPHA:295073 http://purl.obolibrary.org/obo/MONDO_0017488 ulnar longitudinal meromelia, bilateral ordo_clinical_subtype MONDO:0017489 ulnar hemimelia, unilateral biolink:Disease mondo ICD10:Q71.5|Orphanet:295075 ORPHA:295075 http://purl.obolibrary.org/obo/MONDO_0017489 ulnar longitudinal meromelia, unilateral ordo_clinical_subtype MONDO:0017482 humeral agenesis/hypoplasia, unilateral biolink:Disease mondo ICD10:Q71.8|Orphanet:295061 ORPHA:295061 http://purl.obolibrary.org/obo/MONDO_0017482 humeral intercalary meromelia, unilateral ordo_clinical_subtype MONDO:0017483 humeral agenesis/hypoplasia, bilateral biolink:Disease mondo Orphanet:295063|ICD10:Q71.8 ORPHA:295063 http://purl.obolibrary.org/obo/MONDO_0017483 humeral intercalary meromelia, bilateral ordo_clinical_subtype MONDO:0017484 femoral agenesis/hypoplasia, unilateral biolink:Disease mondo ICD10:Q72.4|Orphanet:295065 ORPHA:295065 http://purl.obolibrary.org/obo/MONDO_0017484 femoral intercalary meromelia, unilateral ordo_clinical_subtype MONDO:0017485 femoral agenesis/hypoplasia, bilateral biolink:Disease mondo ICD10:Q72.4|Orphanet:295067 ORPHA:295067 http://purl.obolibrary.org/obo/MONDO_0017485 femoral intercalary meromelia, bilateral ordo_clinical_subtype GO:0007159 leukocyte cell-cell adhesion biolink:OntologyClass mondo The attachment of a leukocyte to another cell via adhesion molecules. http://purl.obolibrary.org/obo/GO_0007159 leukocyte adhesion|leukocyte cell adhesion MONDO:0042433 mycotic endocarditis biolink:Disease mondo SCTID:86348002|UMLS:C0276648 An endocarditis (disease) caused by infection with Fungi. SNOMEDCT:86348002|UMLS:C0276648 http://purl.obolibrary.org/obo/MONDO_0042433 Fungi caused endocarditis (disease)|mycotic endocarditis|fungal endocarditis|Fungi endocarditis (disease) GO:0007155 cell adhesion biolink:OntologyClass mondo The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. http://purl.obolibrary.org/obo/GO_0007155 single organism cell adhesion|cell adhesion molecule activity GO:0007154 cell communication biolink:OntologyClass mondo Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/GO_0007154 GO:0007162 negative regulation of cell adhesion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. http://purl.obolibrary.org/obo/GO_0007162 cell adhesion receptor inhibitor activity|down-regulation of cell adhesion|down regulation of cell adhesion|inhibition of cell adhesion|downregulation of cell adhesion GO:0032114 regulation of glucose-6-phosphatase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate. http://purl.obolibrary.org/obo/GO_0032114 GO:0032113 regulation of carbohydrate phosphatase activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate. http://purl.obolibrary.org/obo/GO_0032113 GO:0032109 positive regulation of response to nutrient levels biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of a response to nutrient levels. http://purl.obolibrary.org/obo/GO_0032109 up-regulation of response to nutrient levels|up regulation of response to nutrient levels|activation of response to nutrient levels|stimulation of response to nutrient levels|upregulation of response to nutrient levels GO:0032108 negative regulation of response to nutrient levels biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels. http://purl.obolibrary.org/obo/GO_0032108 downregulation of response to nutrient levels|inhibition of response to nutrient levels|down-regulation of response to nutrient levels|down regulation of response to nutrient levels GO:0032107 regulation of response to nutrient levels biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a response to nutrient levels. http://purl.obolibrary.org/obo/GO_0032107 GO:0032106 positive regulation of response to extracellular stimulus biolink:OntologyClass mondo Any process that activates, maintains or increases the rate of a response to an extracellular stimulus. http://purl.obolibrary.org/obo/GO_0032106 stimulation of response to extracellular stimulus|up-regulation of response to extracellular stimulus|activation of response to extracellular stimulus|upregulation of response to extracellular stimulus|up regulation of response to extracellular stimulus GO:0032105 negative regulation of response to extracellular stimulus biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus. http://purl.obolibrary.org/obo/GO_0032105 downregulation of response to extracellular stimulus|down regulation of response to extracellular stimulus|inhibition of response to extracellular stimulus|down-regulation of response to extracellular stimulus GO:0034767 positive regulation of ion transmembrane transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0034767 up-regulation of transmembrane ion transport|up regulation of transmembrane ion transport|activation of transmembrane ion transport|positive regulation of transmembrane ion transport|stimulation of transmembrane ion transport|positive regulation of ion membrane transport|upregulation of transmembrane ion transport GO:0007166 cell surface receptor signaling pathway biolink:OntologyClass mondo A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor linked signalling pathway|cell surface receptor linked signal transduction|cell surface receptor linked signaling pathway GO:0007165 signal transduction biolink:OntologyClass mondo The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. http://purl.obolibrary.org/obo/GO_0007165 signalling cascade|signaling cascade|signalling pathway|signaling pathway GO:0034760 negative regulation of iron ion transmembrane transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0034760 negative regulation of transmembrane iron transport|downregulation of transmembrane iron ion transport|down regulation of transmembrane iron ion transport|negative regulation of iron ion membrane transport|inhibition of transmembrane iron ion transport|down-regulation of transmembrane iron ion transport|negative regulation of transmembrane iron ion transport GO:0034761 positive regulation of iron ion transmembrane transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0034761 positive regulation of transmembrane iron ion transport|up regulation of transmembrane iron ion transport|stimulation of transmembrane iron ion transport|up-regulation of transmembrane iron ion transport|positive regulation of iron ion membrane transport|activation of transmembrane iron ion transport|positive regulation of transmembrane iron transport|upregulation of transmembrane iron ion transport GO:0034762 regulation of transmembrane transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0034762 regulation of membrane transport GO:0034763 negative regulation of transmembrane transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0034763 negative regulation of membrane transport|down-regulation of transmembrane transport|down regulation of transmembrane transport|downregulation of transmembrane transport|inhibition of transmembrane transport CHEBI:60798 excitatory amino acid antagonist biolink:ChemicalSubstance mondo Any substance which inhibits the action of receptors for excitatory amino acids. http://purl.obolibrary.org/obo/CHEBI_60798 excitatory amino acid receptor antagonist|EAA receptor antagonist|EAA receptor antagonists|excitatory amino acid antagonists|excitatory amino acid receptor antagonists GO:0034764 positive regulation of transmembrane transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0034764 activation of transmembrane transport|stimulation of transmembrane transport|upregulation of transmembrane transport|positive regulation of membrane transport|up-regulation of transmembrane transport|up regulation of transmembrane transport GO:0034765 regulation of ion transmembrane transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0034765 regulation of transmembrane ion transport|regulation of ion membrane transport GO:0034766 negative regulation of ion transmembrane transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0034766 down regulation of transmembrane ion transport|inhibition of transmembrane ion transport|downregulation of transmembrane ion transport|negative regulation of ion membrane transport|down-regulation of transmembrane ion transport|negative regulation of transmembrane ion transport GO:0032104 regulation of response to extracellular stimulus biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus. http://purl.obolibrary.org/obo/GO_0032104 GO:0032103 positive regulation of response to external stimulus biolink:OntologyClass mondo Any process that activates, maintains or increases the rate of a response to an external stimulus. http://purl.obolibrary.org/obo/GO_0032103 stimulation of response to external stimulus|upregulation of response to external stimulus|up-regulation of response to external stimulus|up regulation of response to external stimulus|activation of response to external stimulus GO:0032102 negative regulation of response to external stimulus biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/GO_0032102 down-regulation of response to external stimulus|down regulation of response to external stimulus|inhibition of response to external stimulus|downregulation of response to external stimulus GO:0032101 regulation of response to external stimulus biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/GO_0032101 ECTO:0000200 lipid exposure biolink:OntologyClass mondo An exposure to lipid. http://purl.obolibrary.org/obo/ECTO_0000200 exposure to lipid HGNC:897 AVPR2 biolink:OntologyClass mondo http://identifiers.org/hgnc/897 HGNC:894 AVP biolink:OntologyClass mondo http://identifiers.org/hgnc/894 FOODON:00003194 vegetarian food product biolink:OntologyClass mondo A food product not including meat and animal tissue products (such as gelatin or animal-derived rennet). http://purl.obolibrary.org/obo/FOODON_00003194 vegetarian food GO:0034756 regulation of iron ion transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0034756 regulation of Fe transport|regulation of iron ion import|regulation of iron transport|regulation of iron import HGNC:27365 TECRL biolink:OntologyClass mondo http://identifiers.org/hgnc/27365 GO:0034757 negative regulation of iron ion transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0034757 downregulation of iron ion transport|down regulation of iron ion transport|inhibition of iron ion transport|down-regulation of iron ion transport|negative regulation of iron transport GO:0046700 heterocycle catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/GO_0046700 heterocycle degradation|heterocycle breakdown|heterocycle catabolism GO:0034758 positive regulation of iron ion transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0034758 up-regulation of iron ion transport|activation of iron ion transport|positive regulation of iron transport|upregulation of iron ion transport|up regulation of iron ion transport|stimulation of iron ion transport GO:0007135 meiosis II biolink:OntologyClass mondo The second nuclear division of meiosis, in which the two chromatids in each chromosome are separated, resulting in four daughter nuclei from the two nuclei produced in meiosis II. http://purl.obolibrary.org/obo/GO_0007135 meiosis II nuclear division HGNC:890 AUH biolink:OntologyClass mondo http://identifiers.org/hgnc/890 GO:0034759 regulation of iron ion transmembrane transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0034759 regulation of iron ion membrane transport|regulation of transmembrane iron transport|regulation of transmembrane iron ion transport|regulation of transmembrane Fe transport MONDO:0042451 endomyometritis biolink:Disease mondo SCTID:88027004 An inflammation of the endometrium and the myometrium. SNOMEDCT:88027004 http://purl.obolibrary.org/obo/MONDO_0042451 endomyometritis MONDO:0042452 tertiary lesion of yaws biolink:Disease mondo SCTID:88037009|UMLS:C0343833 UMLS:C0343833|SNOMEDCT:88037009 http://purl.obolibrary.org/obo/MONDO_0042452 tertiary yaws|tertiary stage of yaws|tertiary lesion of yaws GO:0009792 embryo development ending in birth or egg hatching biolink:OntologyClass mondo The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. http://purl.obolibrary.org/obo/GO_0009792 embryogenesis GO:0007140 male meiotic nuclear division biolink:OntologyClass mondo A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline. http://purl.obolibrary.org/obo/GO_0007140 male nuclear division|male meiosis GO:0034755 iron ion transmembrane transport biolink:OntologyClass mondo A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0034755 high-affinity iron ion transport|iron ion membrane transport|low affinity iron ion transport|iron(2+) transmembrane transport|high affinity iron ion transport|low-affinity iron ion transmembrane transport|high-affinity iron ion transmembrane transport|high affinity ferrous ion transmembrane transport|transmembrane iron transport|ferrous iron transmembrane transport|high-affinity ferrous ion transmembrane transport|ferrous ion transmembrane transport|low-affinity iron ion transport HP:0004299 Hernia of the abdominal wall biolink:PhenotypicFeature mondo SNOMEDCT_US:128545000|Fyler:4414|UMLS:C1442978 The presence of a hernia in the abdominal wall. http://purl.obolibrary.org/obo/HP_0004299 Herniated abdominal wall hposlim_core HP:0004298 Abnormality of the abdominal wall biolink:PhenotypicFeature mondo UMLS:C4021664 The presence of any abnormality affecting the abdominal wall. http://purl.obolibrary.org/obo/HP_0004298 Abnormality of external features of the abdomen|Abnormality of the abdominal wall hposlim_core HP:0004297 Abnormality of the biliary system biolink:PhenotypicFeature mondo UMLS:C0940767 An abnormality of the biliary system. http://purl.obolibrary.org/obo/HP_0004297 HGNC:27375 MSRB3 biolink:OntologyClass mondo http://identifiers.org/hgnc/27375 NCBITaxon:2169561 Ortervirales organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2169561 GO:0007142 male meiosis II biolink:OntologyClass mondo A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline. http://purl.obolibrary.org/obo/GO_0007142 male meiosis II nuclear division MONDO:0042458 Trichinella spiralis infectious disease biolink:Disease mondo SCTID:88264003|UMLS:C3887668 An disease or disorder caused by infection with Trichinella spiralis. SNOMEDCT:88264003|UMLS:C3887668 http://purl.obolibrary.org/obo/MONDO_0042458 trichinelliasis caused by Trichinella spiralis|Trichinella spiralis disease or disorder|infection caused by larvae of Trichinella spiralis|infection by larvae of Trichinella spiralis|trichinellosis caused by Trichinella spiralis|Trichinella spiralis caused disease or disorder|trichiniasis caused by Trichinella spiralis|trichinosis caused by Trichinella spiralis HP:0031899 Abnormal coagulation factor V activity biolink:PhenotypicFeature mondo Any deviation from the activity of coagulation factor V. http://purl.obolibrary.org/obo/HP_0031899 Abnormal factor V activity GO:0010795 regulation of ubiquinone biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/GO_0010795 HGNC:15480 DIAPH3 biolink:OntologyClass mondo http://identifiers.org/hgnc/15480 MONDO:0005567 substance withdrawal syndrome biolink:Disease mondo ICD9:292.0|SCTID:363101005|EFO:0005800|DOID:0060001|UMLS:C0152128|NCIT:C35046|MESH:D013375 A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. NCIT:C35046|MESH:D013375|DOID:0060001|SNOMEDCT:363101005|UMLS:C0152128 http://purl.obolibrary.org/obo/MONDO_0005567 withdrawal disorder|substance withdrawal|drug withdrawal|drug withdrawal syndrome|substance withdrawal disorder|substance withdrawal syndrome|withdrawal syndrome MONDO:0005566 neonatal abstinence syndrome biolink:Disease mondo ICD9:779.5|SCTID:414819007|EFO:0005799|COHD:4212326|MESH:D009357|UMLS:C0027609|ICD9:760.8|ICD10:P96.1|DOID:9828|NCIT:C87101 A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. UMLS:C0027609|SNOMEDCT:414819007|MESH:D009357|NCIT:C87101|DOID:9828 http://purl.obolibrary.org/obo/MONDO_0005566 neonatal narcotic withdrawal syndrome|NAS|drug withdrawal syndrome in newborn|neonatal withdrawal MONDO:0005569 cartilage disease biolink:Disease mondo UMLS:C0007302|SCTID:50927007|EFO:0005802|ICD10:M94.9|MESH:D002357|ICD9:733.99|COHD:4178431|ICD10:M91-M94|DOID:1222 Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). SNOMEDCT:50927007|MESH:D002357|UMLS:C0007302|DOID:1222 http://purl.obolibrary.org/obo/MONDO_0005569 Chondropathy|cartilage tissue disease or disorder|cartilage disorder|disorder of cartilage tissue|disease of cartilage tissue|disease or disorder of cartilage tissue|disorder of cartilage tissue|cartilage tissue disease MONDO:0005568 cholesterol embolism biolink:Disease mondo ICD9:445|DOID:1461|MESH:D017700|UMLS:C0585266|EFO:0005801|ICD9:459.89|SCTID:307406004|UMLS:C0149649|ICD10:I75 Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. UMLS:C0585266|SNOMEDCT:307406004|DOID:1461|UMLS:C0149649|MESH:D017700 http://purl.obolibrary.org/obo/MONDO_0005568 warfarin blue toe syndrome|purple toe syndrome|atheroembolism|cholesterol crystal embolism|trash foot MONDO:0005563 nut midline carcinoma biolink:Disease mondo ONCOTREE:NMCHN|NCIT:C45716|ICD10:C80.9|UMLS:C1707291|DOID:0060463|UMLS:CN237663|Orphanet:443167|EFO:0005783|Wikipedia:NUT_midline_carcinoma A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene. UMLS:C1707291|UMLS:CN237663|NCIT:C45716|DOID:0060463|ORPHA:443167 http://purl.obolibrary.org/obo/MONDO_0005563 Midline carcinoma of children and Young adults with NUT rearrangement|NMC|NUT carcinoma|NUT midline carcinoma of the head and neck|nuclear protein in testis midline carcinoma|carcinoma with t(15;19)(q13;p13.1) translocation|NUT Midline carcinoma ordo_disease MONDO:0005562 age-related hearing impairment biolink:Disease mondo DC:0000371|EFO:0005782 Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males. http://purl.obolibrary.org/obo/MONDO_0005562 ARHI MONDO:0005565 blastoma biolink:Disease mondo NCIT:C8997|DOID:0070003|EFO:0005785|ICDO:8981/3 A malignant neoplasm composed of undifferentiated cells. NCIT:C8997|DOID:0070003 http://purl.obolibrary.org/obo/MONDO_0005565 blastoma|embryoma MONDO:0005564 embryonal neoplasm biolink:Disease mondo UMLS:C0027654|DOID:688|EFO:0005784|NCIT:C3264|ONCOTREE:EMBT A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 UMLS:C0027654|DOID:688|NCIT:C3264 http://purl.obolibrary.org/obo/MONDO_0005564 embryonal cancer|EMBT|embryo neoplasm|embryonal neoplasm|embryonal tumor MONDO:0005561 aortic disease biolink:Disease mondo ICD9:447.9|SCTID:47040006|NCIT:C101253|EFO:0005775|DOID:520|UMLS:C0003493|MESH:D001018 Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) DOID:520|NCIT:C101253|UMLS:C0003493|MESH:D001018|SNOMEDCT:47040006 http://purl.obolibrary.org/obo/MONDO_0005561 disorder of aorta|aorta disease|disease or disorder of aorta|disorder of the aorta|disease of aorta|aorta disease or disorder|disorder of aorta|aortic disorder MONDO:0005560 brain disease biolink:Disease mondo NCIT:C96413|ICD9:348.8|ICD9:348.3|ICD9:348.30|EFO:0005774|UMLS:C0085584|ICD9:348.9|MESH:D001927|ICD10:G93.9|UMLS:C0006111|DOID:936|ICD10:G93.40|SCTID:81308009 A disease affecting the brain or part of the brain. MESH:D001927|DOID:936|UMLS:C0006111|SNOMEDCT:81308009|NCIT:C96413|UMLS:C0085584 http://purl.obolibrary.org/obo/MONDO_0005560 encephalopathy|disease of brain|brain disease or disorder|disorder of brain|disorder of brain|brain disease|disease or disorder of brain MONDO:0017556 Madelung deformity, unilateral biolink:Disease mondo ICD10:Q74.0|Orphanet:295221 ORPHA:295221 http://purl.obolibrary.org/obo/MONDO_0017556 ordo_clinical_subtype MONDO:0017557 Madelung deformity, bilateral biolink:Disease mondo Orphanet:295223|ICD10:Q74.0 ORPHA:295223 http://purl.obolibrary.org/obo/MONDO_0017557 ordo_clinical_subtype MONDO:0017558 congenital elbow dislocation, unilateral biolink:Disease mondo Orphanet:295225|ICD10:Q68.8 ORPHA:295225 http://purl.obolibrary.org/obo/MONDO_0017558 ordo_clinical_subtype MONDO:0017559 congenital elbow dislocation, bilateral biolink:Disease mondo ICD10:Q68.8|Orphanet:295227 ORPHA:295227 http://purl.obolibrary.org/obo/MONDO_0017559 ordo_clinical_subtype MONDO:0017552 humero-ulnar synostosis, unilateral biolink:Disease mondo ICD10:Q74.0|Orphanet:295213 ORPHA:295213 http://purl.obolibrary.org/obo/MONDO_0017552 humero-ulnar fusion, unilateral ordo_clinical_subtype MONDO:0017553 humero-ulnar synostosis, bilateral biolink:Disease mondo ICD10:Q74.0|Orphanet:295215 ORPHA:295215 http://purl.obolibrary.org/obo/MONDO_0017553 humero-ulnar fusion, bilateral ordo_clinical_subtype MONDO:0017554 radio-ulnar synostosis, unilateral biolink:Disease mondo ICD10:Q74.0|Orphanet:295217|UMLS:CN203290 ORPHA:295217|UMLS:CN203290 http://purl.obolibrary.org/obo/MONDO_0017554 radio-ulnar fusion, unilateral ordo_clinical_subtype MONDO:0017555 radio-ulnar synostosis, bilateral biolink:Disease mondo Orphanet:295219|ICD10:Q74.0|UMLS:CN203291 ORPHA:295219|UMLS:CN203291 http://purl.obolibrary.org/obo/MONDO_0017555 radio-ulnar fusion, bilateral ordo_clinical_subtype MONDO:0017550 humero-radial synostosis, unilateral biolink:Disease mondo Orphanet:295209|ICD10:Q74.0 ORPHA:295209 http://purl.obolibrary.org/obo/MONDO_0017550 humero-radial fusion, unilateral ordo_clinical_subtype MONDO:0017551 humero-radial synostosis, bilateral biolink:Disease mondo ICD10:Q74.0|Orphanet:295211 ORPHA:295211 http://purl.obolibrary.org/obo/MONDO_0017551 humero-radial fusion, bilateral ordo_clinical_subtype HGNC:15492 ANKH biolink:OntologyClass mondo http://identifiers.org/hgnc/15492 MONDO:0005578 arthritis biolink:Disease mondo EFO:0005856|SCTID:3723001|ICD10:M19.90|UMLS:C0003864|NCIT:C2883|MESH:D001168|DOID:848|Wikipedia:Arthritis|COHD:4291025 An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. MESH:D001168|NCIT:C2883|DOID:848|SNOMEDCT:3723001|UMLS:C0003864 http://purl.obolibrary.org/obo/MONDO_0005578 inflammatory disorder of joint|skeletal joint inflammation|inflammation of skeletal joint|arthritis MONDO:0005577 obsolete narcolepsy without cataplexy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005577 MONDO:0005579 epilepsy, idiopathic generalized biolink:Disease mondo OMIMPS:600669|SCTID:19598007|NCIT:C3021|MESH:D004829|EFO:0005917|DOID:1827 A chronic condition characterised by recurrent generalised seizures. NCIT:C3021|DOID:1827|SNOMEDCT:19598007|MESH:D004829 http://purl.obolibrary.org/obo/MONDO_0005579 generalized epilepsy|idiopathic generalized epilepsy|generalised epilepsy|EIG|epilepsy, idiopathic generalized|epilepsy, idiopathic generalized; EIG MONDO:0005574 tauopathy biolink:Disease mondo UMLS:C0949664|MESH:D024801|DOID:680|EFO:0005815 Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration. DOID:680|MESH:D024801|UMLS:C0949664 http://purl.obolibrary.org/obo/MONDO_0005574 MONDO:0005573 obsolete type II hypersensitivity reaction disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005573 CHEBI:35703 xenobiotic biolink:ChemicalSubstance mondo A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means. http://purl.obolibrary.org/obo/CHEBI_35703 xenobiotic compounds|Xenobiotic|xenobiotic|xenobiotics MONDO:0005576 cryoglobulinemia biolink:Disease mondo UMLS:C0010403|ICD10:D89.1|ICD9:273.2|GARD:0006217|SCTID:30911005|COHD:4149583|MESH:D003449|NCIT:C26736|DOID:2917|EFO:0005846 Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause. UMLS:C0010403|DOID:2917|SNOMEDCT:30911005|NCIT:C26736|MESH:D003449 http://purl.obolibrary.org/obo/MONDO_0005576 cryoglobulinemia|Cryoimmunoglobulinaemia gard_rare CHEBI:35705 immunosuppressive agent biolink:ChemicalSubstance mondo An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response. http://purl.obolibrary.org/obo/CHEBI_35705 inmunosupresor|immunosuppressive agents|immunosuppressant MONDO:0005575 colorectal cancer biolink:Disease mondo OMIM:114500|SCTID:363510005|UMLS:C1527249|EFO:0005842|DOID:9256|DOID:5672|ICD10:C18.9|KEGG:05210|NCIT:C4978 A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma. DOID:5672|DOID:9256|SNOMEDCT:363510005|UMLS:C1527249|NCIT:C4978|http://identifiers.org/omim/114500 http://purl.obolibrary.org/obo/MONDO_0005575 malignant colorectal tumor|malignant tumor of the large intestine|colorectal cancer; CRC|malignant tumor of large intestine|malignant large bowel neoplasm|malignant neoplasm of the large bowel|CRC|malignant neoplasm of large bowel|cancer of colorectum|cancer of large intestine|malignant large bowel tumor|malignant colorectal neoplasm|large intestine cancer|malignant tumor of the large bowel|colorectum cancer|malignant tumor of large bowel|malignant large intestine neoplasm|malignant neoplasm of the large intestine|cancer of the large bowel|malignant neoplasm of large intestine|colon cancer|colorectal cancer|malignant neoplasm of colorectum|malignant large intestine tumor|cancer of large bowel|malignant colorectum neoplasm clingen MONDO:0005570 hematologic disease biolink:Disease mondo SCTID:414022008|ICD10:D75.9|ICD9:289.8|Orphanet:97992|ICD9:280-289.99|UMLS:CN882913|UMLS:C0018939|GTR:AN1320635|UMLS:CN206939|DOID:74|EFO:0005803|ICD9:289.9|NCIT:C26323|MESH:D006402 A disease involving the hematopoietic system. ORPHA:97992|MESH:D006402|UMLS:CN206939|NCIT:C26323|UMLS:C0018939|DOID:74|UMLS:CN882913|SNOMEDCT:414022008 http://purl.obolibrary.org/obo/MONDO_0005570 hematological system disease|hematopoietic system disease or disorder|disorder of hematopoietic system|hematological disease|rare hematologic disease|disease or disorder of hematopoietic system|disorder of hematopoietic system|hematological disorder|hematological disorders and malignancies|hematologic disorder|blood disorder|hematopoietic system disease|disease of the blood and blood-forming organs|blood disease|disease of hematopoietic system|hematopoietic disease|blood dyscrasia|hematologic and lymphocytic disorder|blood dyscrasia NOS ordo_group_of_disorders|obsoletion_candidate MONDO:0005572 polycythemia due to hypoxia biolink:Disease mondo UMLS:C0856818|NCIT:C27312|EFO:0005805|DOID:2835 Polycythemia resulting from hypoxia. UMLS:C0856818|NCIT:C27312|DOID:2835 http://purl.obolibrary.org/obo/MONDO_0005572 MONDO:0005571 polycythemia (disease) biolink:Disease mondo UMLS:C0032461|MESH:D011086|NCIT:C26863|MedDRA:10036051|ICD10:D75.1|EFO:0005804|DOID:8432|Orphanet:98427|HP:0001901 Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. MESH:D011086|DOID:8432|NCIT:C26863|MEDDRA:10036051|UMLS:C0032461|ORPHA:98427 http://purl.obolibrary.org/obo/MONDO_0005571 polycythemia|erythrocythemia ordo_group_of_disorders MONDO:0017549 humero-radio-ulnar synostosis, bilateral biolink:Disease mondo ICD10:Q74.0|Orphanet:295207 ORPHA:295207 http://purl.obolibrary.org/obo/MONDO_0017549 humero-radio-ulnar fusion, bilateral ordo_clinical_subtype MONDO:0017545 zygodactyly type 4 biolink:Disease mondo UMLS:CN203277|Orphanet:295193|ICD10:Q70.3 ORPHA:295193|UMLS:CN203277 http://purl.obolibrary.org/obo/MONDO_0017545 SD1, Castilla type|Zygodactyly, Castilla type|syndactyly type 1d|SD1d|syndactyly type 1, Castilla type ordo_clinical_subtype MONDO:0017546 congenital vertical talus, unilateral biolink:Disease mondo Orphanet:295201|ICD10:Q66.8 ORPHA:295201 http://purl.obolibrary.org/obo/MONDO_0017546 ordo_clinical_subtype MONDO:0017547 congenital vertical talus, bilateral biolink:Disease mondo Orphanet:295203|ICD10:Q66.8 ORPHA:295203 http://purl.obolibrary.org/obo/MONDO_0017547 ordo_clinical_subtype MONDO:0017548 humero-radio-ulnar synostosis, unilateral biolink:Disease mondo Orphanet:295205|ICD10:Q74.0 ORPHA:295205 http://purl.obolibrary.org/obo/MONDO_0017548 humero-radio-ulnar fusion, unilateral ordo_clinical_subtype CHEBI:35701 ester biolink:ChemicalSubstance mondo A compound formally derived from an oxoacid RkE(=O)l(OH)m (l > 0) and an alcohol, phenol, heteroarenol, or enol by linking with formal loss of water from an acidic hydroxy group of the former and a hydroxy group of the latter. http://purl.obolibrary.org/obo/CHEBI_35701 esters|Ester MONDO:0017541 obsolete central polydactyly of toes, unilateral biolink:Disease mondo ICD10:Q69.2|Orphanet:295183 ORPHA:295183 http://purl.obolibrary.org/obo/MONDO_0017541 mesoaxial polydactyly of toes, unilateral|mirror foot, unilateral MONDO:0017542 obsolete central polydactyly of toes, bilateral biolink:Disease mondo Orphanet:295185|ICD10:Q69.2 ORPHA:295185 http://purl.obolibrary.org/obo/MONDO_0017542 mesoaxial polydactyly of toes, bilateral|mirror foot, bilateral MONDO:0017543 zygodactyly type 2 biolink:Disease mondo Orphanet:295189|ICD10:Q70.3|ICD10:Q70.2|UMLS:CN203275|ICD10:Q70.1|ICD10:Q70.0 ORPHA:295189|UMLS:CN203275 http://purl.obolibrary.org/obo/MONDO_0017543 syndactyly type 1b|syndactyly type 1, Lueken type|SD1b|SD1, Lueken type|Zygodactyly, Lueken type ordo_clinical_subtype MONDO:0017544 zygodactyly type 3 biolink:Disease mondo ICD10:Q70.2|ICD10:Q70.1|ICD10:Q70.0|UMLS:CN203276|Orphanet:295191|ICD10:Q70.3 ORPHA:295191|UMLS:CN203276 http://purl.obolibrary.org/obo/MONDO_0017544 Zygodactyly, Montagu type|syndactyly type 1c|SD1, Montagu type|SD1c|syndactyly type 1, Montagu type ordo_clinical_subtype NCBITaxon:10780 Parvoviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10780 MONDO:0017540 obsolete postaxial polydactyly of toes, bilateral biolink:Disease mondo ICD10:Q69.2|Orphanet:295181 ORPHA:295181 http://purl.obolibrary.org/obo/MONDO_0017540 MONDO:0005549 renal cell adenocarcinoma biolink:Disease mondo NCIT:C9385|EFO:0005708|ICDO:8312/3|ICDO:8311/1 A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. NCIT:C9385 http://purl.obolibrary.org/obo/MONDO_0005549 renal cell carcinoma, stage unspecified|renal cell cancer|adenocarcinoma of kidney|adenocarcinoma of the kidney|kidney adenocarcinoma|renal cell adenocarcinoma|carcinoma, renal cell, malignant|renal cell carcinoma, NOS|renal cell carcinoma|RCC MONDO:0005548 obsolete malignant rhabdoid tumour biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005548 MONDO:0005545 staphylococcus aureus infection biolink:Disease mondo EFO:0005681|NCIT:C122576|SCTID:406602003 An infectious process in which the bacteria Staphylococcus aureus is present. NCIT:C122576|SNOMEDCT:406602003 http://purl.obolibrary.org/obo/MONDO_0005545 MONDO:0005544 hippocampal sclerosis of aging biolink:Disease mondo EFO:0005678 Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus http://purl.obolibrary.org/obo/MONDO_0005544 MONDO:0005547 desmoplastic medulloblastoma biolink:Disease mondo EFO:0005699 A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. http://purl.obolibrary.org/obo/MONDO_0005547 MONDO:0005546 fibromyalgia biolink:Disease mondo UMLS:C0016053|ICD10:M79.1|ICD10:M79.7|ICD9:729.1|SCTID:203082005|DOID:631|NCIT:C87497|GARD:0012069|EFO:0005687|MESH:D005356 A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. DOID:631|NCIT:C87497|SNOMEDCT:203082005|MESH:D005356|UMLS:C0016053 http://purl.obolibrary.org/obo/MONDO_0005546 fibromyalgia|fibromyalgia syndrome MONDO:0005541 spondylolysis (disease) biolink:Disease mondo EFO:0005649|SCTID_2010_1_31:240221008|ICD10:M43.00|SCTID:240221008|MESH:D013169|UMLS:C0038018|HP:0003304|NCIT:C35034|ICD10:M43.0|DOID:2300 A defect in the pars interarticularis of a vertebral bone. NCIT:C35034|UMLS:C0038018|MESH:D013169|SNOMEDCT:240221008|DOID:2300 http://purl.obolibrary.org/obo/MONDO_0005541 spondylolysis MONDO:0005540 obsolete rectal adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005540 MONDO:0005543 autoimmune hepatitis type 1 biolink:Disease mondo SCTID:721711009|SCTID:197284004|ICD9:571.49 Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA). SNOMEDCT:197284004|SNOMEDCT:721711009 http://purl.obolibrary.org/obo/MONDO_0005543 autoimmune hepatitis type 1|type 1 AIH MONDO:0005542 acute coronary syndrome biolink:Disease mondo SCTID:394659003|NCIT:C53652|MESH:D054058|EFO:0005672|UMLS:C0948089 Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. UMLS:C0948089|NCIT:C53652|SNOMEDCT:394659003|MESH:D054058 http://purl.obolibrary.org/obo/MONDO_0005542 syndrome, acute coronary|coronary syndrome, acute|acute coronary syndromes|coronary syndromes, acute|acute coronary syndrome|syndromes, acute coronary MONDO:0017538 Preaxial polydactyly of toes, bilateral biolink:Disease mondo Orphanet:295177|ICD10:Q69.2 ORPHA:295177 http://purl.obolibrary.org/obo/MONDO_0017538 bifid hallux, bilateral|bifid great toes, bilateral|bifid halluces, bilateral ordo_clinical_subtype MONDO:0017539 obsolete postaxial polydactyly of toes, unilateral biolink:Disease mondo ICD10:Q69.2|Orphanet:295179 ORPHA:295179 http://purl.obolibrary.org/obo/MONDO_0017539 NCBITaxon:333774 unclassified Papillomaviridae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_333774 MONDO:0017534 postaxial polydactyly type B, bilateral biolink:Disease mondo ICD10:Q69.0|Orphanet:295169|UMLS:CN203265 UMLS:CN203265|ORPHA:295169 http://purl.obolibrary.org/obo/MONDO_0017534 ordo_clinical_subtype GO:0032092 positive regulation of protein binding biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of protein binding. http://purl.obolibrary.org/obo/GO_0032092 up-regulation of protein binding|up regulation of protein binding|activation of protein binding|stimulation of protein binding|upregulation of protein binding GO:0032091 negative regulation of protein binding biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. http://purl.obolibrary.org/obo/GO_0032091 inhibition of protein binding|downregulation of protein binding|down-regulation of protein binding|down regulation of protein binding MONDO:0017535 central polydactyly of fingers, unilateral biolink:Disease mondo ICD10:Q69.0|Orphanet:295171 ORPHA:295171 http://purl.obolibrary.org/obo/MONDO_0017535 mirror hand, unilateral|mesoaxial polydactyly of fingers, unilateral ordo_clinical_subtype HGNC:15469 DNAJC6 biolink:OntologyClass mondo http://identifiers.org/hgnc/15469 MONDO:0017536 central polydactyly of fingers, bilateral biolink:Disease mondo Orphanet:295173|ICD10:Q69.0 ORPHA:295173 http://purl.obolibrary.org/obo/MONDO_0017536 mesoaxial polydactyly of fingers, bilateral|mirror hand, bilateral ordo_clinical_subtype MONDO:0017537 Preaxial polydactyly of toes, unilateral biolink:Disease mondo Orphanet:295175|ICD10:Q69.2 ORPHA:295175 http://purl.obolibrary.org/obo/MONDO_0017537 bifid halluces, unilateral|bifid great toes, unilateral|bifid hallux, unilateral ordo_clinical_subtype MONDO:0017530 polysyndactyly, bilateral biolink:Disease mondo Orphanet:295161|UMLS:CN203261|ICD10:Q70.4 ORPHA:295161|UMLS:CN203261 http://purl.obolibrary.org/obo/MONDO_0017530 preaxial polydactyly type 4, bilateral ordo_clinical_subtype HGNC:15464 SPINK5 biolink:OntologyClass mondo http://identifiers.org/hgnc/15464 HGNC:15465 GPHN biolink:OntologyClass mondo http://identifiers.org/hgnc/15465 MONDO:0017531 postaxial polydactyly type A, unilateral biolink:Disease mondo Orphanet:295163|ICD10:Q69.0|UMLS:CN203262 ORPHA:295163|UMLS:CN203262 http://purl.obolibrary.org/obo/MONDO_0017531 ordo_clinical_subtype MONDO:0017532 postaxial polydactyly type A, bilateral biolink:Disease mondo Orphanet:295165|UMLS:CN203263|ICD10:Q69.0 ORPHA:295165|UMLS:CN203263 http://purl.obolibrary.org/obo/MONDO_0017532 ordo_clinical_subtype MONDO:0017533 postaxial polydactyly type B, unilateral biolink:Disease mondo ICD10:Q69.0|Orphanet:295167|UMLS:CN203264 ORPHA:295167|UMLS:CN203264 http://purl.obolibrary.org/obo/MONDO_0017533 ordo_clinical_subtype HGNC:39433 PRSS56 biolink:OntologyClass mondo http://identifiers.org/hgnc/39433 UBERON:0014393 sweat of axilla biolink:AnatomicalEntity mondo Sweat that is produced by the glands of the axilla. http://purl.obolibrary.org/obo/UBERON_0014393 axillary sweat MONDO:0005559 neurodegenerative disease biolink:Disease mondo SCTID:80690008|MESH:D019636|DOID:1289|ICD9:349.89|ICD10:G31.9|EFO:0005772|NCIT:C4802 A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. NCIT:C4802|SNOMEDCT:80690008|MESH:D019636|DOID:1289 http://purl.obolibrary.org/obo/MONDO_0005559 degenerative disorder of central nervous system|central nervous system neurodegenerative disorder|degenerative disease|neurodegenerative disease|brain degeneration|cerebral degeneration disease|central nervous system degenerative disorder merged_class UBERON:0014394 uterine fat pad biolink:AnatomicalEntity mondo Encapsulated adipose tissue associated with the uterus http://purl.obolibrary.org/obo/UBERON_0014394 uterine fat depot|periuterine fat pad|peri-uterine fat pad UBERON:0014395 proximal mesopodial bone biolink:AnatomicalEntity mondo A proximal mesopodial endochondral element that is composed primarily of a bone tissue. http://purl.obolibrary.org/obo/UBERON_0014395 MONDO:0005556 lupus nephritis biolink:Disease mondo SCTID:68815009|UMLS:C0024143|DOID:0080162|EFO:0005761|MESH:D008181|NCIT:C34789|GARD:0010747 Glomerulonephritis in the context of systemic lupus erythematosus. DOID:0080162|MESH:D008181|SNOMEDCT:68815009|NCIT:C34789|UMLS:C0024143 http://purl.obolibrary.org/obo/MONDO_0005556 Glomerulonephritides, lupus|glomerulonephritis, lupus|lupus glomerulonephritis|lupus nephritis|lupus Nephritides|Nephritides, lupus|lupus Glomerulonephritides|nephritis, lupus|SLE nephritis gard_rare MONDO:0005555 cycloplegia biolink:Disease mondo EFO:0005758|DOID:10033|SCTID_2010_1_31:232141000|SCTID_2010_1_31:255335004|Wikipedia:Cycloplegia|SCTID:68158006|ICD10:H52.52|ICD9:367.51|SCTID_2010_1_31:68158006|UMLS:C0235238 Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. UMLS:C0235238|SNOMEDCT:68158006|DOID:10033 http://purl.obolibrary.org/obo/MONDO_0005555 cycloplegia|accommodative paresis|cycloplegic paralysis of accommodation|paralysis of accommodation|paresis of accommodation|loss of accommodation|visual accommodation paralysis|ciliary muscle paresis UBERON:0014390 muscle layer of ileum biolink:AnatomicalEntity mondo A muscular coat that is part of a ileum. http://purl.obolibrary.org/obo/UBERON_0014390 ileal smooth muscle|muscularis propria of ileum|smooth muscle of ileum|muscularis externa of ileum UBERON:0014391 palmar/plantar sweat gland biolink:AnatomicalEntity mondo A sweat gland that is part of the skin of the palmar part of the manus or plantar part of the pes http://purl.obolibrary.org/obo/UBERON_0014391 palmar/plantar eccrine sweat gland|sweat gland of palmar part of manus|sweat gland of palmar/plant part of autopod|palm/sole sweat gland|palmar eccrine sweat gland|palm sweat gland MONDO:0005558 ovarian disease biolink:Disease mondo NCIT:C26841|UMLS:C0029928|DOID:1100|MESH:D010049|EFO:0005771|SCTID:5552004 A disease involving the ovary. NCIT:C26841|SNOMEDCT:5552004|UMLS:C0029928|MESH:D010049|DOID:1100 http://purl.obolibrary.org/obo/MONDO_0005558 disorder of ovary|ovarian disease|disorder of ovary|ovary disease|disease or disorder of ovary|ovarian disorder|disease of ovary|ovary disease or disorder MONDO:0005557 calcium metabolic disease biolink:Disease mondo SCTID_2010_1_31:190874007|ICD9:275.4|MESH:D002128|SCTID_2010_1_31:71638002|SCTID:71638002|SCTID_2010_1_31:190863003|EFO:0005769|ICD9:275.40|SCTID_2010_1_31:267442002|ICD10:E83.50|DOID:10575|ICD9:275.49|UMLS:C0006705|ICD10:E83.5 Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. DOID:10575|MESH:D002128|SNOMEDCT:71638002|UMLS:C0006705 http://purl.obolibrary.org/obo/MONDO_0005557 calcium metabolism disease|disorder of calcium metabolism|calcium metabolism disorder UBERON:0014392 sweat of palm biolink:AnatomicalEntity mondo Sweat that is produced by the glands on the palmar and plantar surfaces. http://purl.obolibrary.org/obo/UBERON_0014392 palmar sweat|palm sweat MONDO:0005552 ocular vascular disease biolink:Disease mondo EFO:0005753|NCIT:C35664 A disorder that is caused by pathologic changes in the ocular vasculature. NCIT:C35664 http://purl.obolibrary.org/obo/MONDO_0005552 vasculature of eye disease|ocular vascular disorder|vasculature of eye disease or disorder|disorder of vasculature of eye|disorder of vasculature of eye|disease or disorder of vasculature of eye|disease of vasculature of eye MONDO:0005551 eye allergy biolink:Disease mondo EFO:0005751 An allergic disease involving a pathogenic inflammatory response in the camera-type eye. http://purl.obolibrary.org/obo/MONDO_0005551 MONDO:0005554 rheumatologic disorder biolink:Disease mondo DOID:1575|SCTID:396332003|NCIT:C27204|EFO:0005755|ICD9:729.0|UMLS:C0035435|Wikipedia:Rheumatism|MESH:D012216 Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. MESH:D012216|SNOMEDCT:396332003|NCIT:C27204|UMLS:C0035435|DOID:1575 http://purl.obolibrary.org/obo/MONDO_0005554 rheumatism|disease, rheumatic|inflammatory rheumatism|rheumatologic disorder|enthesopathy|enthesopathies|collagen disease|rheumatic disease|diseases, rheumatic|collagen vascular disease|musculoskeletal pain disorder|connective tissue disease MONDO:0005553 obsolete parathyroid disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005553 MONDO:0005550 infectious disease biolink:Disease mondo ICD9:079.0|SCTID:40733004|IDO:0000436|ICD9:136.9|ICD9:136.8|EFO:0005741|MESH:D003141|ICD10:A00.B99|NCIT:C26726|DOID:0050117 A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. DOID:0050117|SNOMEDCT:40733004|NCIT:C26726|MESH:D003141 http://purl.obolibrary.org/obo/MONDO_0005550 infectious|transmissible disease|infectious diseases and manifestations|infectious disorder|infectious disease|clinical infection|ID|disease by infectious agent|communicable disease|infection UBERON:0014399 sinusoidal space biolink:AnatomicalEntity mondo A anatomical space that is enclosed by a sinusoid. http://purl.obolibrary.org/obo/UBERON_0014399 sinusoid lumen|lumen of sinusoid MONDO:0017527 polydactyly of an index finger, unilateral biolink:Disease mondo ICD10:Q69.0|UMLS:CN203258|Orphanet:295152 UMLS:CN203258|ORPHA:295152 http://purl.obolibrary.org/obo/MONDO_0017527 preaxial polydactyly type 3, unilateral ordo_clinical_subtype MONDO:0017528 polydactyly of an index finger, bilateral biolink:Disease mondo ICD10:Q69.0|UMLS:CN203259|Orphanet:295154 UMLS:CN203259|ORPHA:295154 http://purl.obolibrary.org/obo/MONDO_0017528 preaxial polydactyly type 3, bilateral ordo_clinical_subtype MONDO:0017529 polysyndactyly, unilateral biolink:Disease mondo UMLS:CN203260|Orphanet:295159|ICD10:Q70.4 UMLS:CN203260|ORPHA:295159 http://purl.obolibrary.org/obo/MONDO_0017529 preaxial polydactyly type 4, unilateral ordo_clinical_subtype MONDO:0017523 polydactyly of a biphalangeal thumb, unilateral biolink:Disease mondo ICD10:Q69.1|Orphanet:295144|UMLS:CN203254 UMLS:CN203254|ORPHA:295144 http://purl.obolibrary.org/obo/MONDO_0017523 preaxial polydactyly type 1, unilateral ordo_clinical_subtype MONDO:0017524 polydactyly of a biphalangeal thumb, bilateral biolink:Disease mondo ICD10:Q69.1|Orphanet:295146|UMLS:CN203255 UMLS:CN203255|ORPHA:295146 http://purl.obolibrary.org/obo/MONDO_0017524 preaxial polydactyly type 1, bilateral ordo_clinical_subtype MONDO:0017525 polydactyly of a triphalangeal thumb, unilateral biolink:Disease mondo Orphanet:295148|ICD10:Q69.1|UMLS:CN203256 UMLS:CN203256|ORPHA:295148 http://purl.obolibrary.org/obo/MONDO_0017525 preaxial polydactyly type 2, unilateral|unilateral PPD2 ordo_clinical_subtype MONDO:0017526 polydactyly of a triphalangeal thumb, bilateral biolink:Disease mondo UMLS:CN203257|ICD10:Q69.1|Orphanet:295150 UMLS:CN203257|ORPHA:295150 http://purl.obolibrary.org/obo/MONDO_0017526 preaxial polydactyly type 2, bilateral|bilateral PPD2 ordo_clinical_subtype FOODON:00003203 food harvesting biolink:OntologyClass mondo A process which takes in some food material from an individual or community of plant or animal organisms in a given context and time, and outputs a precursor or consumable food product. This may include a part of an organism or the whole, and may involve killing the organism. http://purl.obolibrary.org/obo/FOODON_00003203 MONDO:0017520 symbrachydactyly of hand and foot, bilateral biolink:Disease mondo Orphanet:295138|ICD10:Q73.8|UMLS:CN203253 UMLS:CN203253|ORPHA:295138 http://purl.obolibrary.org/obo/MONDO_0017520 ordo_clinical_subtype MONDO:0017521 hyperphalangy, unilateral biolink:Disease mondo ICD10:Q74.8|Orphanet:295140 ORPHA:295140 http://purl.obolibrary.org/obo/MONDO_0017521 supernumerary phalanx, unilateral|supernumerary phalanges, unilateral|hyperphalangy in digits 2-5 ordo_clinical_subtype MONDO:0017522 hyperphalangy, bilateral biolink:Disease mondo Orphanet:295142|ICD10:Q74.8 ORPHA:295142 http://purl.obolibrary.org/obo/MONDO_0017522 supernumerary phalanges, bilateral|supernumerary phalanx, bilateral ordo_clinical_subtype MONDO:0017590 carcinoma of the ampulla of vater biolink:Disease mondo SCTID:254609000|ICD10:C24.1|NCIT:C3908|MedDRA:10048853|UMLS:C0262401|DOID:4932|EFO:1000079|Orphanet:300557|ONCOTREE:AMPCA A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. ORPHA:300557|SNOMEDCT:254609000|NCIT:C3908|MEDDRA:10048853|DOID:4932|UMLS:C0262401 http://purl.obolibrary.org/obo/MONDO_0017590 AMPCA|ampullary cancer|carcinoma of hepatopancreatic ampulla|hepatopancreatic ampulla carcinoma|ampullary carcinoma|ampulla of Vater carcinoma|carcinoma of ampulla of vater|ampulla of Vater cancer|Ampulloma ordo_disease MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome biolink:Disease mondo ICD10:J84.1|UMLS:CN203401|Orphanet:300564 ORPHA:300564|UMLS:CN203401 http://purl.obolibrary.org/obo/MONDO_0017591 CPFE ordo_disease ENVO:3100011 concentration of dioxygen in liquid water biolink:OntologyClass mondo The concentration of dioxygen when measured in liquid water. http://purl.obolibrary.org/obo/ENVO_3100011 liquid water dioxygen concentration HGNC:27424 RBM20 biolink:OntologyClass mondo http://identifiers.org/hgnc/27424 HGNC:15446 PRPF31 biolink:OntologyClass mondo http://identifiers.org/hgnc/15446 MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system biolink:Disease mondo SCTID:734066005|UMLS:C2026186|Orphanet:300849|ICD10:C83.3|ICDO:9680/3|NCIT:C71720 A diffuse large B-cell lymphoma arising from the central nervous system. ORPHA:300849|NCIT:C71720|UMLS:C2026186|SNOMEDCT:734066005 http://purl.obolibrary.org/obo/MONDO_0017596 diffuse large B-cell lymphoma of central nervous system|primary DLBCL of the CNS|CNS DLBCL|central nervous system diffuse large B-cell lymphoma|DLBCL of the CNS|primary diffuse large B-cell lymphoma of the central nervous system ordo_disease MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma biolink:Disease mondo NCIT:C9496|UMLS:C1321547|ICDO:9688/3|ONCOTREE:THRLBCL|Orphanet:300857|GARD:0012257|ICDO:9680/3|ICD10:C83.3 T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course. ORPHA:300857|UMLS:C1321547|NCIT:C9496 http://purl.obolibrary.org/obo/MONDO_0017597 T-cell rich/histiocyte-rich large B-cell lymphoma|T-cell/histiocyte rich lymphoma|THRLBCL|T-cell/histiocyte-rich large B-cell lymphoma gard_rare|ordo_disease MONDO:0017598 primary cutaneous anaplastic large cell lymphoma biolink:Disease mondo UMLS:C1301362|ICD10:C86.6|MedDRA:10065863|MESH:D054446|ONCOTREE:PCALCL|Orphanet:300865|NCIT:C6860 Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features. UMLS:C1698767|NCIT:C6860|ORPHA:300865|MESH:D054446|MEDDRA:10065863|UMLS:C1301362 http://purl.obolibrary.org/obo/MONDO_0017598 regressive atypical histiocytosis|ALCL, cutaneous|primary cutaneous CD30+ ALCL|C-ALCL|primary cutaneous CD30 Positive anaplastic large cell lymphoma|primary cutaneous CD30+ anaplastic large cell lymphoma|primary C-ALCL|anaplastic large-cell lymphoma, primary cutaneous type|primary anaplastic large cell lymphoma of skin|primary anaplastic large cell lymphoma of the skin ordo_disease MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma biolink:Disease mondo ICD10:C83.0|NCIT:C80309|ONCOTREE:SDRPL|SCTID:763884007|Orphanet:300869|ICDO:9591/3|UMLS:C2699508 Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism. UMLS:C2699508|ORPHA:300869|SNOMEDCT:763884007|NCIT:C80309 http://purl.obolibrary.org/obo/MONDO_0017599 splenic diffuse red pulp lymphoma|SDRPL ordo_disease MONDO:0017592 staphylococcal toxemia biolink:Disease mondo UMLS:C0854511|Orphanet:300579|MedDRA:10041932 ORPHA:300579|MEDDRA:10041932|UMLS:C0854511 http://purl.obolibrary.org/obo/MONDO_0017592 ordo_group_of_disorders MONDO:0017593 juvenile amyotrophic lateral sclerosis biolink:Disease mondo UMLS:CN239582|ICD10:G12.2|GARD:0011901|Orphanet:300605|UMLS:C3468114|SCTID:718555006 Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. SNOMEDCT:718555006|ORPHA:300605|UMLS:C3468114|UMLS:CN239582 http://purl.obolibrary.org/obo/MONDO_0017593 juvenile Lou Gehrig disease|JALS|juvenile Charcot disease|amyotrophic lateral sclerosis, juvenile gard_rare|ordo_disease MONDO:0017594 indolent B-cell non-Hodgkin lymphoma biolink:Disease mondo GARD:0010482|Orphanet:300842 ORPHA:300842 http://purl.obolibrary.org/obo/MONDO_0017594 B cell lymphoma, indolent|indolent B cell lymphoma|indolent B-cell NHL gard_rare|ordo_group_of_disorders GO:0019098 reproductive behavior biolink:OntologyClass mondo The specific behavior of an organism that is associated with reproduction. http://purl.obolibrary.org/obo/GO_0019098 reproductive behavior in a multicellular organism|multicellular organism reproductive behavior|reproductive behaviour|single-organism reproductive behavior MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma biolink:Disease mondo Orphanet:300846 ORPHA:300846 http://purl.obolibrary.org/obo/MONDO_0017595 aggressive B-cell NHL ordo_group_of_disorders MONDO:0017580 11p15.4 microduplication syndrome biolink:Disease mondo Orphanet:300305|ICD10:Q92.3|UMLS:CN203376 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. ORPHA:300305|UMLS:CN203376 http://purl.obolibrary.org/obo/MONDO_0017580 trisomy 11p15.4|dup(11)p(15.4) ordo_malformation_syndrome GO:0032060 bleb assembly biolink:OntologyClass mondo The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/GO_0032060 membrane blebbing|plasma membrane blebbing|cell blebbing|plasma membrane bleb assembly|blebbing MONDO:0017589 follicular cholangitis and pancreatitis biolink:Disease mondo Orphanet:300552 Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts. ORPHA:300552 http://purl.obolibrary.org/obo/MONDO_0017589 follicular pancreatocholangitis ordo_disease UBERON:0026386 lumbar spinal cord white matter biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0026386 lumbar spinal cord white matter HGNC:15459 P2RX2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15459 MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome biolink:Disease mondo UMLS:CN203391|GARD:0011006|Orphanet:300501 ORPHA:300501|UMLS:CN203391 http://purl.obolibrary.org/obo/MONDO_0017585 multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus gard_rare|ordo_disease MONDO:0017586 onychocytic matricoma biolink:Disease mondo UMLS:CN203392|GARD:0011007|Orphanet:300504 Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision. ORPHA:300504|UMLS:CN203392 http://purl.obolibrary.org/obo/MONDO_0017586 acanthoma of the nail matrix gard_rare|ordo_disease HGNC:15454 SHOC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15454 MONDO:0017587 onychomatricoma biolink:Disease mondo UMLS:CN203393|Orphanet:300512 A neoplasm involving a UBERON:0002283. ORPHA:300512|UMLS:CN203393 http://purl.obolibrary.org/obo/MONDO_0017587 neoplasm of nail matrix|nail matrix tumor|nail matrix neoplasm|tumor of nail matrix ordo_disease HGNC:15455 MBTPS2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15455 MONDO:0017588 nail tumor biolink:Disease mondo Orphanet:300515 A neoplasm involving a nail. ORPHA:300515 http://purl.obolibrary.org/obo/MONDO_0017588 nail neoplasm (disease)|neoplasm of nail|rare nail tumor|nail tumor|nail neoplasm|tumor of nail ordo_group_of_disorders MONDO:0017581 familial infantile gigantism biolink:Disease mondo UMLS:CN203384|Orphanet:300373|ICD10:E22.0 ORPHA:300373|UMLS:CN203384 http://purl.obolibrary.org/obo/MONDO_0017581 hereditary infantile gigantism|X-LAG (X-linked acrogigantism)|infantile gigantism due to pituitary hyperplasia|hereditary pituitary hyperplasia ordo_disease MONDO:0017582 pituitary adenocarcinoma (disease) biolink:Disease mondo HP:0011763|UMLS:C0346300|Orphanet:300385|DOID:4916|SCTID:254955001|NCIT:C4536|ICDO:8272/3|ICD10:C75.1|ONCOTREE:PTCA A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly. ORPHA:300385|NCIT:C4536|UMLS:C0346300|SNOMEDCT:254955001|DOID:4916 http://purl.obolibrary.org/obo/MONDO_0017582 pituitary gland cancer, NOS|PTCA|carcinoma of the pituitary gland|pituitary gland carcinoma|pituitary carcinoma|pituitary gland adenocarcinoma|cancer of the pituitary gland|carcinoma of pituitary gland|carcinoma of the pituitary|cancer of pituitary gland|carcinoma of pituitary|cancer of the pituitary|pituitary gland cancer|cancer of pituitary ordo_disease MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome biolink:Disease mondo UMLS:CN203387|ICD10:Q87.2|Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. UMLS:CN203387|ORPHA:3004 http://purl.obolibrary.org/obo/MONDO_0017583 ordo_malformation_syndrome CHEBI:3992 cyclic ketone biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_3992 cyclic ketones|Cyclic ketone MONDO:0017584 Sagliker syndrome biolink:Disease mondo Orphanet:300493|UMLS:CN203388 A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face ORPHA:300493|UMLS:CN203388 http://purl.obolibrary.org/obo/MONDO_0017584 ordo_clinical_situation MONDO:0005589 thiopurine immunosuppressant-induced pancreatitis biolink:Disease mondo EFO:0006315 Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine. http://purl.obolibrary.org/obo/MONDO_0005589 MONDO:0005588 chemotherapy-induced oral mucositis biolink:Disease mondo EFO:0006313 Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment. http://purl.obolibrary.org/obo/MONDO_0005588 NCBITaxon:10798 Human parvovirus B19 organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10798 Parvovirus B19|Human erythrovirus B19|Erythrovirus B19|B19 virus MONDO:0030502 tetrasomy biolink:Disease mondo EFO:1001297|MESH:D058670|NCIT:C36601 MESH:D058670|NCIT:C36601 http://purl.obolibrary.org/obo/MONDO_0030502 tetrasomy MONDO:0005585 chemotherapy-induced hypertension biolink:Disease mondo EFO:0005942 A form of hypertension that occurs as a direct result of chemotherapy treatment http://purl.obolibrary.org/obo/MONDO_0005585 MONDO:0005584 congenital left-sided heart lesions biolink:Disease mondo EFO:0005938 Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth. http://purl.obolibrary.org/obo/MONDO_0005584 ENVO:3100033 pressure of water biolink:OntologyClass mondo The pressure of some water. http://purl.obolibrary.org/obo/ENVO_3100033 water pressure MONDO:0005587 obsolete non-Hodgkins lymphoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005587 MONDO:0005586 head and neck neoplasm biolink:Disease mondo ICD9:239.89|EFO:0005950|SCTID:255055008|ONCOTREE:HEADNECK|UMLS:C0018671|NCIT:C3077 A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. UMLS:C0018671|SNOMEDCT:255055008|NCIT:C3077 http://purl.obolibrary.org/obo/MONDO_0005586 tumor of craniocervical region|craniocervical region neoplasm|tumor of the head and neck|head and neck neoplasm (excluding central nervous system)|tumor of head and neck|head and neck neoplasm|neoplasm of craniocervical region|craniocervical region neoplasm (disease)|craniocervical region tumor|neoplasm of the head and neck|neoplasm of head and neck|head and neck tumor MONDO:0005581 AVL induced bursal lymphoma biolink:Disease mondo EFO:0005923 Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds. http://purl.obolibrary.org/obo/MONDO_0005581 MONDO:0005580 esophageal squamous cell carcinoma biolink:Disease mondo ICD10:C15.0|DOID:3748|UMLS:C0279626|NCIT:C4024|SCTID:276804009|ONCOTREE:ESCC|ICD10:C15.4|EFO:0005922|ICD10:C15.3|MESH:C562729|Orphanet:99977|ICD10:C15.1 Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third. DOID:3748|NCIT:C4024|MESH:C562729|SNOMEDCT:276804009|UMLS:C0279626|ORPHA:99977 http://purl.obolibrary.org/obo/MONDO_0005580 squamous cell carcinoma of esophagus|scc of the esophagus|esophagus scc|esophageal epidermoid carcinoma|ESCC|squamous cell carcinoma of the esophagus|squamous cell car. - esophagus|esophagus squamous cell carcinoma|esophageal squamous cell carcinoma|esophageal squamous cell cancer|scc of esophagus|esophageal scc ordo_disease MONDO:0005583 non-human animal disease biolink:Disease mondo MESH:D000820|UMLS:C0003047|EFO:0005932 A disease that occurs in animals. MESH:D000820|UMLS:C0003047 http://purl.obolibrary.org/obo/MONDO_0005583 animal disease|diseases, animal MONDO:0005582 binge eating disorder biolink:Disease mondo MESH:D002032|SCTID:439960005|NCIT:C97162|EFO:0005924 Recurrent episodes of over-eating. NCIT:C97162|MESH:D002032|SNOMEDCT:439960005 http://purl.obolibrary.org/obo/MONDO_0005582 binge eating disorder|binge eating MONDO:0017578 disorder of thiamine metabolism and transport biolink:Disease mondo UMLS:CN227150|Orphanet:298644 UMLS:CN227150|ORPHA:298644 http://purl.obolibrary.org/obo/MONDO_0017578 ordo_group_of_disorders MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome biolink:Disease mondo Orphanet:2995|ICD10:Q87.0|GARD:0005279|ICD9:759.89|SCTID:702410002|DOID:0060229|OMIMPS:243310 Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients. ORPHA:2995|DOID:0060229|SNOMEDCT:702410002 http://purl.obolibrary.org/obo/MONDO_0017579 Fryns-Aftimos syndrome|BRWS|Baraitser-winter syndrome|trigonocephaly ptosis intellectual disability|trigonocephaly ptosis coloboma|iris coloboma with ptosis hypertelorism and intellectual disability|cerebro-frontofacial syndrome, type 3|iris coloboma with ptosis hypertelorism and mental retardation|trigonocephaly ptosis mental retardation ordo_malformation_syndrome|gard_rare MONDO:0017574 chronic intestinal pseudoobstruction biolink:Disease mondo SCTID:235828008|Orphanet:2978|ICD10:K59.8|GARD:0012744 Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth. UMLS:C0238062|SNOMEDCT:235828008|ORPHA:2978 http://purl.obolibrary.org/obo/MONDO_0017574 intestinal pseudo-obstruction, chronic|cipo|chronic intestinal pseudo-obstruction ordo_clinical_syndrome|gard_rare MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy biolink:Disease mondo ICD10:G71.3|SCTID:718214007|MESH:C537477|GARD:0009920|Orphanet:298|NCIT:C119678 Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. SNOMEDCT:718214007|NCIT:C119678|MESH:C537477|ORPHA:298 http://purl.obolibrary.org/obo/MONDO_0017575 polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction|mitochondrial neurogastrointestinal encephalopathy syndrome|thymidine phosphorylase deficiency|OGIMD|MNGIE syndrome|POLIP|Mitochondrial neurogastrointestinal encephalopathy|MNGIE|oculogastrointestinal muscular dystrophy|mitochondrial Neurogastrointestingal encephalopathy|Mitochondrial neurogastrointestinal encephalopathy|myoneurogastrointestinal encephalopathy syndrome ordo_disease|gard_rare MONDO:0017576 46,XX disorder of sex development biolink:Disease mondo Orphanet:2982|ICD10:Q56.2|UMLS:CN776919|UMLS:C2936403|MESH:D058489|SCTID:8800006|NCIT:C127169 Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. NCIT:C127169|UMLS:CN776919|MESH:D058489|SNOMEDCT:8800006|UMLS:C2936403|ORPHA:2982 http://purl.obolibrary.org/obo/MONDO_0017576 female pseudohermaphroditism|46,XX DSD|46,XX disorders of Sex development|46,XX differences of Sex development ordo_group_of_disorders MONDO:0017577 spontaneous periodic hypothermia biolink:Disease mondo ICD10:G90.8|GARD:0004815|Orphanet:29822|MESH:C537594|UMLS:C2931542 Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions. MESH:C537594|UMLS:C2931542|ORPHA:29822 http://purl.obolibrary.org/obo/MONDO_0017577 spontaneous recurrent hypothermia syndrome|episodic spontaneous hypothermia|Shapiro's syndrome|recurrent spontaneous hypothermia with hypoplasia of the corpus callosum|Shapiro syndrome|spontaneous periodic hypothermia syndrome ordo_disease MONDO:0017570 leukocyte adhesion deficiency biolink:Disease mondo UMLS:C0272187|Orphanet:2968|GARD:0009544|ICD10:D84.8|SCTID:77358003|NCIT:C27874|DOID:6612 Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. SNOMEDCT:77358003|MESH:D018370|NCIT:C27874|UMLS:C0272187|UMLS:C0242597|DOID:6612|ORPHA:2968 http://purl.obolibrary.org/obo/MONDO_0017570 LAD|congenital leukocyte adherence deficiency ordo_disease|gard_rare MONDO:0017571 Proteus-like syndrome biolink:Disease mondo SCTID:716862002|GARD:0012801|Orphanet:2969|GARD:0004525|ICD10:Q87.3 Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. UMLS:C1866398|ORPHA:2969|SNOMEDCT:716862002 http://purl.obolibrary.org/obo/MONDO_0017571 Proteus like syndrome mental retardation eye defect|Proteus like syndrome intellectual disability eye defect|Cohen-Hayden syndrome ordo_disease|gard_rare MONDO:0017572 tick-borne encephalitis biolink:Disease mondo GARD:0005216|ICD10:A84.9|ICD10:A84.1|ICD10:A84.8|UMLS:C0014061|MedDRA:10043848|DOID:0050175|EFO:1001309|ICD9:063.2|NCIT:C34579|Orphanet:297|ICD10:A84.0|MESH:D004675 Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis. MESH:D004675|MEDDRA:10043848|UMLS:C0014061|DOID:0050175|NCIT:C34579|ORPHA:297 http://purl.obolibrary.org/obo/MONDO_0017572 TBE|central European encephalitis|west-Siberian encephalitis|Siberian tick-borne encephalitis|Western European tick-borne encephalitis|Far Eastern TBE|Russian spring-summer encephalitis|Tick-borne viral encephalitis|taiga encephalitis ordo_disease|gard_rare ECTO:0000258 steroid hormone exposure biolink:OntologyClass mondo An exposure to steroid hormone. http://purl.obolibrary.org/obo/ECTO_0000258 exposure to steroid hormone MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome biolink:Disease mondo ICD10:Q56.2|UMLS:CN203326|Orphanet:2973 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. UMLS:CN203326|ORPHA:2973 http://purl.obolibrary.org/obo/MONDO_0017573 female pseudohermaphroditism-anorectal anomalies syndrome ordo_malformation_syndrome ECTO:0000259 glucocorticoid exposure biolink:OntologyClass mondo An exposure to glucocorticoid. http://purl.obolibrary.org/obo/ECTO_0000259 exposure to glucocorticoid MONDO:0005599 malignant epithelioid mesothelioma biolink:Disease mondo DOID:4489|NCIT:C7985|UMLS:C0862312|EFO:0006452|ICDO:9052/3 A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity. DOID:4489|NCIT:C7985|UMLS:C0862312 http://purl.obolibrary.org/obo/MONDO_0005599 epithelioid mesothelioma, malignant (morphologic abnormality)|epithelioid mesothelioma|epithelioid mesothelioma, malignant|epithelial mesothelioma|malignant epithelial mesothelioma|epithelial mesothelioma MONDO:0005596 cystadenocarcinoma biolink:Disease mondo NCIT:C2971|DOID:3111|MESH:D003536|EFO:0006387|ICDO:8440/3|UMLS:C0010631 A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas. DOID:3111|UMLS:C0010631|MESH:D003536|NCIT:C2971 http://purl.obolibrary.org/obo/MONDO_0005596 cystadenocarcinoma|cystadenocarcinoma NOS (morphologic abnormality)|cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma, malignant MONDO:0005595 laryngeal squamous cell carcinoma biolink:Disease mondo Orphanet:494550|EFO:0006352|ONCOTREE:LXSC|UMLS:C0280324|NCIT:C4044|SCTID:405822008|DOID:2876 A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx. UMLS:C0280324|DOID:2876|NCIT:C4044|SNOMEDCT:405822008|ORPHA:494550 http://purl.obolibrary.org/obo/MONDO_0005595 LXSC|laryngeal throat squamous cell cancer|epidermoid carcinoma of the larynx|epidermoid carcinoma of larynx|larynx epidermoid carcinoma|squamous cell carcinoma of larynx|squamous cell carcinoma of the larynx|larynx squamous cell carcinoma|laryngeal epidermoid carcinoma|laryngeal squamous cell carcinoma ordo_disease MONDO:0005598 dopaminergic neuroblastoma biolink:Disease mondo PMID:3385588|EFO:0006391 A neuroblastoma associated with increased dopamine excretion. http://purl.obolibrary.org/obo/MONDO_0005598 MONDO:0005597 cystic renal cell carcinoma biolink:Disease mondo EFO:0006388|PMID:3739121 Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis. http://purl.obolibrary.org/obo/MONDO_0005597 MONDO:0005592 smooth surface dental caries biolink:Disease mondo ICD9:521.07|EFO:0006339 http://purl.obolibrary.org/obo/MONDO_0005592 MONDO:0005591 pit and fissure surface dental caries biolink:Disease mondo ICD9:521.06|EFO:0006338 http://purl.obolibrary.org/obo/MONDO_0005591 MONDO:0005594 severe cutaneous adverse reaction biolink:Disease mondo MedDRA:20000020|EFO:0006346|NCIT:C34483|SCTID:275322007 A permanent mark left on the skin in the process of wound healing. SNOMEDCT:275322007|NCIT:C34483 http://purl.obolibrary.org/obo/MONDO_0005594 scarring|Scar|SCAR MONDO:0005593 chronic periodontitis biolink:Disease mondo EFO:0006343|ICD9:523.4|NCIT:C35326|COHD:138790|SCTID:5689008|MESH:D055113|ICD10:K05.3|ICD9:523.40 A chronic inflammatory process that affects the tissues that surround and support the teeth. MESH:D055113|NCIT:C35326|SNOMEDCT:5689008 http://purl.obolibrary.org/obo/MONDO_0005593 periodontitis, chronic MONDO:0005590 breast ductal adenocarcinoma biolink:Disease mondo MESH:D018270|EFO:0006318|DOID:3007|NCIT:C4017 A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist. MESH:D018270|NCIT:C4017|DOID:3007 http://purl.obolibrary.org/obo/MONDO_0005590 ductal adenocarcinoma|ductal carcinoma of breast|ductal carcinoma|ductal carcinoma of the breast|ductal breast adenocarcinoma|ductal breast carcinoma|duct adenocarcinoma|breast ductal carcinoma|mammary duct adenocarcinoma|duct carcinoma, NOS|duct carcinoma MONDO:0017567 macrodactyly of toes, bilateral biolink:Disease mondo Orphanet:295245|ICD10:Q74.2 ORPHA:295245 http://purl.obolibrary.org/obo/MONDO_0017567 macrodactyly of foot, bilateral ordo_clinical_subtype MONDO:0017568 Prata-Liberal-Goncalves syndrome biolink:Disease mondo UMLS:CN203304|GARD:0000491|ICD10:Q87.8|Orphanet:2956|UMLS:C2931761 Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. ORPHA:2956|UMLS:C2931761|UMLS:CN203304|MESH:C538180|MESH:C538277 http://purl.obolibrary.org/obo/MONDO_0017568 brachydactyly-scoliosis-carpal fusion syndrome|acrodysplasia scoliosis ordo_malformation_syndrome MONDO:0017569 de Barsy syndrome biolink:Disease mondo GARD:49|GARD:0000049|MESH:C535990|PMID:18388779|DOID:0070143|ICD10:Q87.8|Orphanet:2962|SCTID:238826008 A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. ORPHA:2962|SNOMEDCT:238826008|MESH:C535990|DOID:0070143|UMLS:C0268354 http://purl.obolibrary.org/obo/MONDO_0017569 cutis laxa growth deficiency syndrome|autosomal recessive cutis laxa type III|cutis laxa-corneal clouding-intellectual disability syndrome|progeroid syndrome, De Barsy type|corneal clouding, cutis laxa and mental retardation|progeroid syndrome of de Barsy|De Barsy syndrome|progeroid syndrome, de Barsy type|corneal clouding, cutis laxa and intellectual disability ordo_disease|gard_rare MONDO:0017563 congenital patella dislocation, bilateral biolink:Disease mondo ICD10:Q74.1|Orphanet:295237 ORPHA:295237 http://purl.obolibrary.org/obo/MONDO_0017563 ordo_clinical_subtype MONDO:0017564 macrodactyly of fingers, unilateral biolink:Disease mondo ICD10:Q74.0|Orphanet:295239 ORPHA:295239 http://purl.obolibrary.org/obo/MONDO_0017564 macrodactyly of hand, unilateral ordo_clinical_subtype MONDO:0017565 macrodactyly of fingers, bilateral biolink:Disease mondo Orphanet:295241|ICD10:Q74.0 ORPHA:295241 http://purl.obolibrary.org/obo/MONDO_0017565 macrodactyly of hand, bilateral ordo_clinical_subtype MONDO:0017566 macrodactyly of toes, unilateral biolink:Disease mondo Orphanet:295243|ICD10:Q74.2 ORPHA:295243 http://purl.obolibrary.org/obo/MONDO_0017566 macrodactyly of foot, unilateral ordo_clinical_subtype HP:0031816 Abnormal oral morphology biolink:PhenotypicFeature mondo Any structural anomaly of the mouth, which is also known as the oral cavity. http://purl.obolibrary.org/obo/HP_0031816 MONDO:0017560 congenital genu recurvatum biolink:Disease mondo ICD9:754.40|SCTID:205063003|ICD10:Q68.2|NCIT:C103184|Orphanet:295229|COHD:78241 An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. ORPHA:295229|SNOMEDCT:205063003|UMLS:C0152235|NCIT:C103184 http://purl.obolibrary.org/obo/MONDO_0017560 genu recurvatum|hyperextension of knee deformity|hyperextension deformity of knee ordo_clinical_subtype MONDO:0017561 congenital genu flexum biolink:Disease mondo Orphanet:295232|ICD10:Q68.2 ORPHA:295232 http://purl.obolibrary.org/obo/MONDO_0017561 ordo_clinical_subtype MONDO:0017562 congenital patella dislocation, unilateral biolink:Disease mondo ICD10:Q74.1|Orphanet:295234 ORPHA:295234 http://purl.obolibrary.org/obo/MONDO_0017562 ordo_clinical_subtype GO:0032042 mitochondrial DNA metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving mitochondrial DNA. http://purl.obolibrary.org/obo/GO_0032042 mtDNA metabolism|mitochondrial DNA metabolism|mtDNA metabolic process CL:2000032 peripheral nervous system neuron biolink:Cell mondo Any neuron that is part of a peripheral nervous system. http://purl.obolibrary.org/obo/CL_2000032 UBERON:0002360 meninx biolink:AnatomicalEntity mondo Membrane organ that surrounds the brain and the spinal cord. http://purl.obolibrary.org/obo/UBERON_0002360 meninx primitiva|meningeal layer|layer of meninges CHEBI:59740 nucleophilic reagent biolink:ChemicalSubstance mondo A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. http://purl.obolibrary.org/obo/CHEBI_59740 nucleophiles|nucleophilic reagents|nucleophile UBERON:0002362 arachnoid mater biolink:AnatomicalEntity mondo A think avascular meningeal layer, between the pia mater and the dural mater. It is separated from the pia mater by the subarachnoid space. http://purl.obolibrary.org/obo/UBERON_0002362 arachnoid mater of neuraxis|arachnoidea mater|arachnoid membrane|arachnoid UBERON:0002361 pia mater biolink:AnatomicalEntity mondo The innermost layer of the leptomeninges, consisting of a delicate membrane closely covering the surface of the brain and spinal cord,and lying under the arachnoid membrane. The pia, unlike the arachnoid, extends into the sulci in gyrencephalic animals. http://purl.obolibrary.org/obo/UBERON_0002361 pia mater of neuraxis|pia|pial membrane UBERON:0002368 endocrine gland biolink:AnatomicalEntity mondo Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. http://purl.obolibrary.org/obo/UBERON_0002368 ductless gland|glandulae endocrinae|ductless gland|glandula endocrina UBERON:0002367 prostate gland biolink:AnatomicalEntity mondo The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid. http://purl.obolibrary.org/obo/UBERON_0002367 prostata|male prostate|prostate HGNC:905 AXL biolink:OntologyClass mondo http://identifiers.org/hgnc/905 UBERON:0002369 adrenal gland biolink:AnatomicalEntity mondo Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. http://purl.obolibrary.org/obo/UBERON_0002369 adrenal|epinephric gland|adrenal capsule|glandula suprarenalis|atrabiliary capsule|interrenal gland|suprarenal gland|glandula suprarenalis|glandula adrenalis|epinephros|adrenal medulla cell|suprarenal capsule UBERON:0002364 tympanic membrane biolink:AnatomicalEntity mondo A thin membrane that separates the external ear from the middle ear, consisting of two epithelia (one part of the the external accoustic meatus epithelium, the other part of the tympanic cavity epithelium) with a fibrous layer between them. Its function is to transmit sound from the air to the ossicles inside the middle ear. The malleus bone bridges the gap between the eardrum and the other ossicles. Rupture or perforation of the eardrum can lead to conductive hearing loss. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002364 Rivinus' membrane|myrinx|paries membranaceus cavi tympani|eardrum|lateral wall of tympanic cavity|tympanum|ear drum|membranous wall of tympanic cavity HGNC:904 AXIN2 biolink:OntologyClass mondo http://identifiers.org/hgnc/904 UBERON:0002363 dura mater biolink:AnatomicalEntity mondo Thick, fibrous meningeal covering surrounding the brain and spinal cord. It is the outermost of the three meningeal coverings. It consists of two layers: the periosteal dura linking the inner surface of the skull and the meningeal dura that lies above the arachnoid dural membrane. The meningeal layer draws away from the periosteal layer and certain locations to form the dural reflections. http://purl.obolibrary.org/obo/UBERON_0002363 pachymeninges|dura mater of neuraxis|dura HGNC:903 AXIN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/903 UBERON:0002366 bulbo-urethral gland biolink:AnatomicalEntity mondo Any of the small paired racemose glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; homologous to the greater vestibular (Bartholin's) glands in the female[MP] http://purl.obolibrary.org/obo/UBERON_0002366 Mery's gland|glandula bulbourethralis|bulbourethral gland|Méry gland|Cowper's glands|Cowper's gland of male|Cowper's gland UBERON:0002365 exocrine gland biolink:AnatomicalEntity mondo A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas http://purl.obolibrary.org/obo/UBERON_0002365 glandula exocrina|ducted gland UBERON:0002349 myocardium biolink:AnatomicalEntity mondo the middle layer of the heart, comprised mainly of striated cardiac muscle fibers http://purl.obolibrary.org/obo/UBERON_0002349 cardiac muscle|muscle of heart|heart myocardium|heart muscle UBERON:0002351 sinoatrial node biolink:AnatomicalEntity mondo The part of the cardiac conduction system that controls the timing of heart muscle contraction. It relays electrical signals to the AV node[GO]. Subdivision of conducting system of heart at the junction of the right atrium and the superior vena cava, around the sinoatrial nodal branch of right coronary artery and is continuous with the internodal tract[FMA]. http://purl.obolibrary.org/obo/UBERON_0002351 node of Keith-Flack|sinu-atrial node|Koch's node|cardiac pacemaker|sinus node|nodus sinuatrialis|sinus node of Keith and Flack|sinoatrial node|nodus sinuatrialis|SA node|sinuatrial nodal muscle tissue|sinuatrial node|SA nodal muscle tissue CHEBI:35785 sphingoid biolink:ChemicalSubstance mondo Sphinganine, its homologs and stereoisomers, and the hydroxy and unsaturated derivatives of these compounds. http://purl.obolibrary.org/obo/CHEBI_35785 sphingoid bases|sphingoids|sphingoid base|sphingoid|Spd UBERON:0002350 conducting system of heart biolink:AnatomicalEntity mondo The cardiac conduction system consists of specialized cardiomyocytes that regulate the frequency of heart beat[GO] http://purl.obolibrary.org/obo/UBERON_0002350 cardiac conducting system|central conduction system|impulse conducting system|cardiac conduction system|cardiac impulse conducting system|heart conduction system|cardionector|complexus stimulans cordis|systema conducente cordis CL:2000029 central nervous system neuron biolink:Cell mondo Any neuron that is part of a central nervous system. http://purl.obolibrary.org/obo/CL_2000029 CHEBI:35789 oxo steroid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35789 keto steroids|oxo steroids|oxosteroids|ketosteroids UBERON:0002357 serous pericardium biolink:AnatomicalEntity mondo Serous membrane which is divided into parietal and visceral serous pericardium. http://purl.obolibrary.org/obo/UBERON_0002357 pericardium serosum|serous portion of pericardium UBERON:0002359 fibrous pericardium biolink:AnatomicalEntity mondo Membrane organ which is attached to the pericardial sac proper and the central tendon of diaphragm and is continuous with the pretracheal fascia.[FMA] http://purl.obolibrary.org/obo/UBERON_0002359 fibrous portion of pericardium|pericardium fibrosum UBERON:0002358 peritoneum biolink:AnatomicalEntity mondo A serous membrane that lines the peritoneal cavity[VHOG,modified]. http://purl.obolibrary.org/obo/UBERON_0002358 peritonaeum UBERON:0002353 atrioventricular bundle biolink:AnatomicalEntity mondo A part of the His-Purkinje system that transmits signals from the AV node to the cardiac Purkinje fibers[GO] http://purl.obolibrary.org/obo/UBERON_0002353 AV bundle|atrioventricular bundle muscle tissue|fasciculus atrioventricularis|bundle of His|atrio-ventricular bundle|A-V bundle|atrioventricular fasciculus|His bundle CHEBI:35780 phosphate ion biolink:ChemicalSubstance mondo A phosphorus oxoanion that is the conjugate base of phosphoric acid. http://purl.obolibrary.org/obo/CHEBI_35780 phosphate|phosphate ions|Pi UBERON:0002352 atrioventricular node biolink:AnatomicalEntity mondo An area of conducting tissue between the atria and the ventricles of the heart that conducts the normal electrical impulse from the atria to the ventricles. http://purl.obolibrary.org/obo/UBERON_0002352 nodus atrioventricularis|downstream pacemaker|AV node|atrioventricular nodal muscle tissue|atriovetricular node|AV nodal muscle tissue|Aschoff-Tawara node|atrio-ventricular node|A-V node|nodus atrioventricularis|node of Tawara HGNC:914 B2M biolink:OntologyClass mondo http://identifiers.org/hgnc/914 UBERON:0002355 pelvic region of trunk biolink:AnatomicalEntity mondo The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. http://purl.obolibrary.org/obo/UBERON_0002355 true pelvis|pelvis region|pelvic region|pelvis|lesser pelvis GO:0044042 glucan metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. http://purl.obolibrary.org/obo/GO_0044042 glucan metabolism UBERON:0002339 epithelium of lobar bronchus biolink:AnatomicalEntity mondo The tissue made up of epithelial cells that lines the inside of the lobar bronchus. http://purl.obolibrary.org/obo/UBERON_0002339 lobar bronchus epithelium|epithelial tissue of lobar bronchus|epithelial tissue of secondary bronchus|epithelium of secondary bronchus|lobar bronchus epithelial tissue|secondary bronchus epithelium|secondary bronchus epithelial tissue|lobar bronchial epithelium UBERON:0002338 lamina propria of bronchus biolink:AnatomicalEntity mondo A lamina propria that is part of a bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002338 lamina propria mucosa of bronchi|lamina propria mucosa of bronchial trunk|lamina propria mucosa of bronchus|lamina propria of bronchi|lamina propria of bronchial trunk|lamina propria mucosae of bronchi|lamina propria mucosae of bronchial trunk|bronchus lamina propria mucosae|bronchi lamina propria mucosa|bronchial trunk lamina propria mucosa|bronchial trunk lamina propria mucosae|bronchi lamina propria mucosae|bronchus lamina propria mucosa|bronchus lamina propria|lamina propria mucosae of bronchus|bronchial trunk lamina propria|bronchial lamina propria|bronchi lamina propria CL:2000055 liver dendritic cell biolink:Cell mondo Any dendritic cell that is part of a liver. http://purl.obolibrary.org/obo/CL_2000055 UBERON:0002340 epithelium of main bronchus biolink:AnatomicalEntity mondo An epithelium that is part of a main bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002340 main bronchial epithelium|main bronchus epithelium|bronchus principalis epithelium|principal bronchus epithelial tissue|epithelial tissue of bronchus principalis|epithelium of bronchus principalis|primary bronchus epithelial tissue|primary bronchus epithelium|epithelial tissue of principal bronchus|epithelial tissue of main bronchus|epithelium of principal bronchus|bronchus principalis epithelial tissue|principal bronchus epithelium|epithelial tissue of primary bronchus|main bronchus epithelial tissue|epithelium of primary bronchus CHEBI:35757 monocarboxylic acid anion biolink:ChemicalSubstance mondo A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated. http://purl.obolibrary.org/obo/CHEBI_35757 Carboxylate|a monocarboxylate|Monocarboxylate|monocarboxylic acid anions|monocarboxylates UBERON:0002346 neurectoderm biolink:AnatomicalEntity mondo Embryonic ectoderm that gives rise to nervous tissue. http://purl.obolibrary.org/obo/UBERON_0002346 neuroectoderm|epithelium tubi neuralis; neuroectoderma|ventral neurogenic region|presumptive central nervous system|neuaral ectoderm|neural ectoderm UBERON:0002348 epicardium biolink:AnatomicalEntity mondo a region of the serous membrane that forms the innermost layer of the pericardium and the outer surface of the heart. http://purl.obolibrary.org/obo/UBERON_0002348 pericardium visceral mesothelium|heart epicardium|visceral serous pericardium proper|visceral serous pericardium of heart UBERON:0002347 thoracic vertebra biolink:AnatomicalEntity mondo A thoracic vertebra endochondral element that is composed primarily of a bone tissue. http://purl.obolibrary.org/obo/UBERON_0002347 thorax vertebra|vertebra thoracica|dorsal vertebra|vertebra of thorax UBERON:0002342 neural crest biolink:AnatomicalEntity mondo A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. http://purl.obolibrary.org/obo/UBERON_0002342 crista neuralis|neural crest material|NC UBERON:0002341 epithelium of segmental bronchus biolink:AnatomicalEntity mondo An epithelium that is part of a segmental bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002341 epithelium of tertiary bronchus|segmental bronchus epithelial tissue|epithelial tissue of tertiary bronchus|segmental bronchial epithelium|tertiary bronchus epithelial tissue|tertiary bronchus epithelium|epithelial tissue of segmental bronchus|segmental bronchus epithelium UBERON:0002343 abdomen musculature biolink:AnatomicalEntity mondo Set of all muscles in abdomen. http://purl.obolibrary.org/obo/UBERON_0002343 muscle group of abdomen|muscles of abdomen|musculature of abdomen|set of muscles of abdomen|musculature of abdominal wall|abdominal musculature UBERON:0002328 notochord biolink:AnatomicalEntity mondo A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. http://purl.obolibrary.org/obo/UBERON_0002328 embryonic notocord|notochorda|notocord UBERON:0004989 mucosa of appendix biolink:AnatomicalEntity mondo A mucosa that is part of an appendix [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004989 mucosa of organ of vermiform appendix|mucosa of vermix|organ mucosa of vermix|caecal appendix mucous membrane|mucous membrane of vermix|mucous membrane of appendix|mucosa of organ of caecal appendix|organ mucosa of appendix|mucosa of vermiform appendix|mucous membrane of vermiform appendix|caecal appendix mucosa|organ mucosa of vermiform appendix|appendix mucosa of organ|caecal appendix organ mucosa|vermix mucosa of organ|appendiceal mucous membrane|vermiform appendix mucosa of organ|vermiform appendix mucosa|vermiform appendix organ mucosa|appendix mucous membrane|vermix mucous membrane|appendix mucosa|vermix mucosa|caecal appendix mucosa of organ|appendix organ mucosa|organ mucosa of caecal appendix|mucosa of organ of appendix|mucosa of organ of vermix|vermix organ mucosa|mucous membrane of caecal appendix|vermiform appendix mucous membrane|mucosa of caecal appendix UBERON:0002329 somite biolink:AnatomicalEntity mondo Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. http://purl.obolibrary.org/obo/UBERON_0002329 somites|somitus|somitic mesoderm|epimere|epimere mesoderm|mesodermal cluster|epithelial somite GO:1900543 negative regulation of purine nucleotide metabolic process biolink:OntologyClass mondo Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide metabolic process. http://purl.obolibrary.org/obo/GO_1900543 negative regulation of purine metabolic process|down-regulation of purine metabolic process|downregulation of purine metabolism|inhibition of purine metabolic process|down-regulation of purine nucleotide metabolic process|downregulation of purine nucleotide metabolism|inhibition of purine metabolism|downregulation of purine metabolic process|down regulation of purine nucleotide metabolic process|down-regulation of purine metabolism|negative regulation of purine metabolism|down regulation of purine nucleotide metabolism|down regulation of purine metabolic process|downregulation of purine nucleotide metabolic process|inhibition of purine nucleotide metabolism|inhibition of purine nucleotide metabolic process|down-regulation of purine nucleotide metabolism|down regulation of purine metabolism|negative regulation of purine nucleotide metabolism GO:1900542 regulation of purine nucleotide metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of purine nucleotide metabolic process. http://purl.obolibrary.org/obo/GO_1900542 regulation of purine metabolism|regulation of purine nucleotide metabolism|regulation of purine metabolic process GO:0044058 regulation of digestive system process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/GO_0044058 GO:1900544 positive regulation of purine nucleotide metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of purine nucleotide metabolic process. http://purl.obolibrary.org/obo/GO_1900544 upregulation of purine metabolic process|up regulation of purine nucleotide metabolic process|positive regulation of purine nucleotide metabolism|up-regulation of purine metabolism|activation of purine nucleotide metabolic process|positive regulation of purine metabolic process|up regulation of purine nucleotide metabolism|up regulation of purine metabolism|up regulation of purine metabolic process|upregulation of purine nucleotide metabolic process|positive regulation of purine metabolism|up-regulation of purine nucleotide metabolism|up-regulation of purine metabolic process|activation of purine nucleotide metabolism|upregulation of purine metabolism|activation of purine metabolism|up-regulation of purine nucleotide metabolic process|upregulation of purine nucleotide metabolism|activation of purine metabolic process GO:0044057 regulation of system process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. http://purl.obolibrary.org/obo/GO_0044057 UBERON:0004990 mucosa of ascending colon biolink:AnatomicalEntity mondo A mucosa that is part of an ascending colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004990 organ mucosa of ascending colon|ascending colon mucosa of organ|mucous membrane of ascending colon|ascending colon mucosa|ascending colon organ mucosa|ascending colon mucous membrane|mucosa of organ of ascending colon UBERON:0004991 mucosa of transverse colon biolink:AnatomicalEntity mondo A mucosa that is part of a transverse colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004991 transverse colon mucous membrane|mucosa of organ of transverse colon|transverse colon mucosa|organ mucosa of transverse colon|mucous membrane of transverse colon|transverse colon organ mucosa|transverse colon mucosa of organ UBERON:0004998 mucosa of pylorus biolink:AnatomicalEntity mondo A mucosa that is part of a pylorus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004998 stomach pyloric region mucosa of organ|organ mucosa of pyloric part of stomach|antropyloric mucosa|pyloric part of stomach mucosa of organ|mucous membrane of pyloric part of stomach|mucosa of pyloric part of stomach|pylorus mucosa|stomach pyloric region mucous membrane|pylorus organ mucosa|mucosa of organ of pyloric part of stomach|pyloric part of stomach mucous membrane|mucosa of organ of stomach pyloric region|mucous membrane of pylorus|pylorus mucosa of organ|organ mucosa of pylorus|mucosa of stomach pyloric region|mucous membrane of stomach pyloric region|organ mucosa of stomach pyloric region|pyloric part of stomach mucosa|pyloric part of stomach organ mucosa|stomach pyloric region mucosa|pylorus mucous membrane|mucosa of organ of pylorus|stomach pyloric region organ mucosa UBERON:0004999 mucosa of biliary tree biolink:AnatomicalEntity mondo A mucosa that is part of a biliary tree [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004999 organ mucosa of biliary tree|mucous membrane of biliary tree|biliary tree mucosa of organ|mucous membrane of biliary tract|organ mucosa of biliary tract|biliary tract mucosa of organ|mucosa of biliary tract|biliary tree mucous membrane|biliary tract mucosa|biliary tract mucous membrane|biliary tract organ mucosa|mucosa of organ of biliary tree|mucosa of organ of biliary tract|biliary tree mucosa|biliary tree organ mucosa UBERON:0002334 submandibular duct biolink:AnatomicalEntity mondo the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue http://purl.obolibrary.org/obo/UBERON_0002334 ductus submandibularis|Wharton's duct|submandibular salivary duct|ductus submaxillaris|submaxillary duct|submaxillar gland duct UBERON:0004996 mucosa of cardia of stomach biolink:AnatomicalEntity mondo A mucosa that is part of a cardia of stomach [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004996 cardial part of stomach mucosa|stomach cardiac region mucous membrane|mucosa of gastric cardia|cardial part of stomach organ mucosa|mucosa of organ of stomach cardiac region|organ mucosa of gastric cardia|mucous membrane of gastric cardia|stomach cardiac region mucosa|mucosa of organ of cardial part of stomach|cardial part of stomach mucous membrane|mucosa of pars cardiaca (gaster)|stomach cardiac region organ mucosa|organ mucosa of pars cardiaca (gaster)|mucous membrane of pars cardiaca (gaster)|mucosa of stomach cardiac region|gastric cardia mucosa of organ|pars cardiaca (gaster) mucosa|organ mucosa of cardia of stomach|cardia of stomach mucosa of organ|cardia of stomach mucosa|organ mucosa of stomach cardiac region|mucous membrane of cardia of stomach|mucous membrane of stomach cardiac region|pars cardiaca (gaster) organ mucosa|cardia of stomach organ mucosa|gastric cardia mucosa|pars cardiaca (gaster) mucosa of organ|gastric cardia organ mucosa|gastric cardia mucous membrane|stomach cardiac region mucosa of organ|mucosa of organ of cardia of stomach|cardia of stomach mucous membrane|pars cardiaca (gaster) mucous membrane|mucosa of organ of gastric cardia|organ mucosa of cardial part of stomach|mucous membrane of cardial part of stomach|cardial part of stomach mucosa of organ|mucosa of organ of pars cardiaca (gaster)|mucosa of cardial part of stomach UBERON:0002337 endometrial stroma biolink:AnatomicalEntity mondo The layer of connective tissue comprised of the endometrial lining of the uterus which fluctuates in thickness throughout the menstrual cycle. http://purl.obolibrary.org/obo/UBERON_0002337 stroma of endometrium|endometrium stroma UBERON:0004997 mucosa of pyloric antrum biolink:AnatomicalEntity mondo A mucosa that is part of a pyloric antrum [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004997 mucosa of organ of pyloric antrum|stomach pyloric antrum mucosa of organ|mucous membrane of antrum of stomach|organ mucosa of antrum of stomach|antrum of stomach mucosa of organ|mucosa of antrum of stomach|pyloric antrum mucosa|pyloric antrum organ mucosa|mucous membrane of pyloric antrum|organ mucosa of pyloric antrum|stomach pyloric antrum mucous membrane|antral mucosa|mucosa of organ of antrum of stomach|antrum of stomach mucous membrane|mucosa of organ of stomach pyloric antrum|gastric antrum mucosa|pyloric antrum mucosa of organ|mucosa of stomach pyloric antrum|antrum of stomach mucosa|organ mucosa of stomach pyloric antrum|stomach pyloric antrum mucosa|antrum of stomach organ mucosa|mucous membrane of stomach pyloric antrum|stomach pyloric antrum organ mucosa|pyloric antrum mucous membrane UBERON:0002336 corpus callosum biolink:AnatomicalEntity mondo White matter structure containing massive numbers of commissural fibers connecting cortical areas in the two cerebral hemispheres.it is subdivided into a genu, a rostrum, a body, and a splenium. (MM) http://purl.obolibrary.org/obo/UBERON_0002336 UBERON:0004994 mucosa of fundus of stomach biolink:AnatomicalEntity mondo A mucosa that is part of a fundus of stomach [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004994 stomach fundus mucosa of organ|fundus of stomach mucosa of organ|organ mucosa of fundus of stomach|mucous membrane of fundus of stomach|fundus gastricus (ventricularis) mucosa of organ|stomach fundus mucous membrane|fundus of stomach mucous membrane|mucosa of organ of fundus of stomach|fundus gastricus (ventricularis) mucous membrane|mucosa of organ of stomach fundus|mucosa of organ of fundus gastricus (ventricularis)|fundus gastricus (ventricularis) mucosa|fundus gastricus (ventricularis) organ mucosa|fundus of stomach mucosa|mucosa of stomach fundus|organ mucosa of stomach fundus|mucous membrane of stomach fundus|stomach fundus mucosa|fundus of stomach organ mucosa|mucosa of fundus gastricus (ventricularis)|stomach fundus organ mucosa|mucous membrane of fundus gastricus (ventricularis)|organ mucosa of fundus gastricus (ventricularis) UBERON:0002331 umbilical cord biolink:AnatomicalEntity mondo The connecting cord from the developing embryo to the placenta. http://purl.obolibrary.org/obo/UBERON_0002331 connecting stalk|chorda umbilicalis|yolk stalk|funiculus umbilicalis|birth cord|funiculus umbilicalis UBERON:0004995 mucosa of body of stomach biolink:AnatomicalEntity mondo A mucosa that is part of a body of stomach [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004995 mucous membrane of body of stomach|body of stomach mucosa of organ|gastric body mucous membrane|organ mucosa of body of stomach|gastric body mucosa|stomach body mucosa of organ|corpus gastricum (ventriculare) mucosa of organ|gastric body organ mucosa|mucous membrane of corpus gastricum (ventriculare)|mucosa of organ of gastric body|organ mucosa of corpus gastricum (ventriculare)|mucosa of corpus gastricum (ventriculare)|mucosa of organ of body of stomach|body of stomach mucous membrane|mucosa of gastric body|stomach body mucous membrane|organ mucosa of gastric body|corpus gastricum (ventriculare) mucous membrane|mucosa of organ of corpus gastricum (ventriculare)|mucous membrane of gastric body|mucosa of organ of stomach body|corpus gastricum (ventriculare) mucosa|corpus gastricum (ventriculare) organ mucosa|gastric body mucosa of organ|stomach body mucosa|body of stomach mucosa|stomach body organ mucosa|mucosa of stomach body|body of stomach organ mucosa|organ mucosa of stomach body|mucous membrane of stomach body UBERON:0002330 exocrine system biolink:AnatomicalEntity mondo Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. http://purl.obolibrary.org/obo/UBERON_0002330 exocrine glandular system UBERON:0004992 mucosa of descending colon biolink:AnatomicalEntity mondo A mucosa that is part of a descending colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004992 mucous membrane of descending colon|organ mucosa of descending colon|descending colon mucosa of organ|descending colon mucosa|descending colon organ mucosa|descending colon mucous membrane|mucosa of organ of descending colon UBERON:0002333 pulmonary trunk biolink:AnatomicalEntity mondo An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. http://purl.obolibrary.org/obo/UBERON_0002333 pulmonary artery (trunk)|trunk of pulmonary arterial tree|main pulmonary artery UBERON:0004993 mucosa of sigmoid colon biolink:AnatomicalEntity mondo A mucosa that is part of a sigmoid colon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004993 sigmoid colon mucous membrane|mucosa of organ of sigmoid colon|sigmoid colon mucosa|sigmoid colon organ mucosa|sigmoid colon mucosa of organ|organ mucosa of sigmoid colon|mucous membrane of sigmoid colon MONDO:0005527 toxic encephalopathy biolink:Disease mondo SCTID:28394000|EFO:0005595|ICD10:G92|GARD:0007199|DOID:3602|COHD:373764|ICD9:349.82|MESH:D020258|Wikipedia:Toxic_encephalopathy|NCIT:C27961 A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives. DOID:3602|NCIT:C27961|SNOMEDCT:28394000|MESH:D020258 http://purl.obolibrary.org/obo/MONDO_0005527 neurotoxicity|neurotoxicity syndrome|neurotoxicity syndromes UBERON:0014382 collection of hairs on head or neck biolink:AnatomicalEntity mondo A collection of hairs that is part of a craniocervical region. http://purl.obolibrary.org/obo/UBERON_0014382 MONDO:0005526 tetanus biolink:Disease mondo Orphanet:3299|DOID:11338|ICD10:A33|COHD:435740|EFO:0005593|GARD:0005144|MedDRA:10043376|MESH:D013742|SCTID:276202003|NCIT:C85185|ICD9:037|ICD10:A35|UMLS:C0039614|SCTID:76902006|ICD10:A34 A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites. NCIT:C85185|DOID:11338|MEDDRA:10043376|ORPHA:3299|SNOMEDCT:76902006|SNOMEDCT:276202003|UMLS:C0039614|MESH:D013742 http://purl.obolibrary.org/obo/MONDO_0005526 Clostridium tetani infectious disease of the nervous system|infection due to Clostridium tetani|clostridial tetanus|lockjaw|Clostridium tetani caused infectious disease of the nervous system gard_rare|ordo_disease MONDO:0005529 obsolete methylmalonic aciduria and homocystinuria type cblG biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005529 MONDO:0005528 inborn vitamin metabolic disorder biolink:Disease mondo EFO:0005596|DOID:0050718 An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process. DOID:0050718 http://purl.obolibrary.org/obo/MONDO_0005528 inborn vitamin metabolic process disorder|inborn error of vitamin metabolic process|rare inborn error of vitamin metabolic process|vitamin metabolic disorder|rare inborn error of vitamin metabolic process UBERON:0014385 aryepiglottic fold biolink:AnatomicalEntity mondo The entrance of the larynx is a triangular opening, narrow in front, wide behind, and sloping obliquely downward and backward. It is bounded, in front, by the epiglottis; behind, by the apices of the arytenoid cartilages, the corniculate cartilages, and the interarytenoid notch; and on either side, by a fold of mucous membrane, enclosing ligamentous and muscular fibers, stretched between the side of the epiglottis and the apex of the arytenoid cartilage; this is the aryepiglottic fold, on the posterior part of the margin of which the cuneiform cartilage forms a more or less distinct whitish prominence, the cuneiform tubercle. These folds form the upper borders of the quadrangular membrane. http://purl.obolibrary.org/obo/UBERON_0014385 aryepiglottic sphincter|ary-epiglottic fold|plica aryepiglottica|aryepiglottic folds|aryepiglottis GO:0044062 regulation of excretion biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/GO_0044062 MONDO:0005523 steroid inherited metabolic disorder biolink:Disease mondo UMLS:C1257809|EFO:0005590|MESH:D043202|DOID:1701 Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. DOID:1701|UMLS:C1257809|MESH:D043202 http://purl.obolibrary.org/obo/MONDO_0005523 GO:0044060 regulation of endocrine process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://purl.obolibrary.org/obo/GO_0044060 regulation of endocrine system process MONDO:0005522 small intestine carcinoma biolink:Disease mondo NCIT:C7724|ONCOTREE:SIC|EFO:0005588|DOID:4907|SCTID:448664009 A carcinoma that arises from epithelial cells of the small intestine DOID:4907|NCIT:C7724|SNOMEDCT:448664009 http://purl.obolibrary.org/obo/MONDO_0005522 carcinoma of the small bowel|carcinoma of small bowel|small intestine cancer, NOS|cancer of the small bowel|small intestine carcinoma|carcinoma of the small intestine|small intestinal carcinoma|small bowel carcinoma|carcinoma of small intestine|small bowel cancer|small intestine cancer|small intestinal cancer|cancer of small bowel MONDO:0005525 T-cell leukemia biolink:Disease mondo EFO:0005592|UMLS:C0023492|MESH:D015458|DOID:715 A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood. MESH:D015458|DOID:715|UMLS:C0023492 http://purl.obolibrary.org/obo/MONDO_0005525 leukemia (disease) of T cell|T cell leukemia (disease) MONDO:0005524 sweat gland carcinoma biolink:Disease mondo NCIT:C6938|EFO:0005591|ICDO:8400/3|UMLS:C1412016|ONCOTREE:AECA|DOID:5667 A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma. NCIT:C6938|UMLS:C1412016|DOID:5667 http://purl.obolibrary.org/obo/MONDO_0005524 carcinoma, sweat gland, malignant|sweat gland carcinoma/apocrine eccrine carcinoma|carcinoma of the sweat gland|carcinoma of sweat gland|sweat gland carcinoma MONDO:0005521 obsolete shigellosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005521 MONDO:0005520 rickets (disease) biolink:Disease mondo EFO:0005583|SCTID:41345002|UMLS:C0035579|DOID:10609|COHD:438719|HP:0002748|ICD9:268.0|NCIT:C26878|GARD:0005700|MESH:D012279|ICD10:E55.0 Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. NCIT:C26878|DOID:10609|SNOMEDCT:41345002|MESH:D012279|UMLS:C0035579 http://purl.obolibrary.org/obo/MONDO_0005520 vitamin D deficiency disease|vitamin D-dependent rickets|nutritional rickets|rachitis|vitamin D hydroxylation-deficient rickets|vitamin-D deficiency rickets|rickets|hypovitaminosis D|active rickets gard_rare MONDO:0017509 adactyly of foot, unilateral biolink:Disease mondo Orphanet:295116|ICD10:Q72.8 ORPHA:295116 http://purl.obolibrary.org/obo/MONDO_0017509 congenital absence of toes, unilateral ordo_clinical_subtype HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis biolink:PhenotypicFeature mondo UMLS:C1855676|UMLS:C3280770 Absence or underdevelopment of the vermis of cerebellum. http://purl.obolibrary.org/obo/HP_0006817 Hypo/aplastic vermis|Cerebellar vermis aplasia/hypoplasia|Cerebellar vermis aplasia or hypoplasia UBERON:0014387 mesenchyme derived from neural crest biolink:AnatomicalEntity mondo Mesenchyme that develops_from the neural crest[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0014387 neural crest derived mesenchyme|mesenchyme from neural crest|neural crest mesenchyme UBERON:0014388 kidney collecting duct epithelium biolink:AnatomicalEntity mondo The simple cuboidal epithelium lining the lumen of kidney collecting ducts. http://purl.obolibrary.org/obo/UBERON_0014388 epithelium of collecting duct of renal tubule|collecting duct of renal tubule epithelium|epithelium of renal collecting tubule GO:0044065 regulation of respiratory system process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system. http://purl.obolibrary.org/obo/GO_0044065 UBERON:0014389 gustatory papilla of tongue biolink:AnatomicalEntity mondo A papilla that contain taste buds, including the fungiform, foliate, and circumvallate papillae. http://purl.obolibrary.org/obo/UBERON_0014389 gustatory papillae|taste papillae|taste papilla|gustatory papilla MONDO:0017516 brachydactyly of fingers, bilateral biolink:Disease mondo ICD10:Q71.8|Orphanet:295130 ORPHA:295130 http://purl.obolibrary.org/obo/MONDO_0017516 short fingers, bilateral ordo_clinical_subtype MONDO:0017517 brachydactyly of toes, unilateral biolink:Disease mondo ICD10:Q72.8|Orphanet:295132 ORPHA:295132 http://purl.obolibrary.org/obo/MONDO_0017517 short toes, unilateral ordo_clinical_subtype MONDO:0017518 brachydactyly of toes, bilateral biolink:Disease mondo ICD10:Q72.8|Orphanet:295134 ORPHA:295134 http://purl.obolibrary.org/obo/MONDO_0017518 short toes, bilateral ordo_clinical_subtype MONDO:0017519 symbrachydactyly of hand and foot, unilateral biolink:Disease mondo UMLS:CN203252|ICD10:Q73.8|Orphanet:295136 UMLS:CN203252|ORPHA:295136 http://purl.obolibrary.org/obo/MONDO_0017519 ordo_clinical_subtype MONDO:0017512 split hand, bilateral biolink:Disease mondo ICD10:Q71.6|Orphanet:295122 Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. ORPHA:295122 http://purl.obolibrary.org/obo/MONDO_0017512 ordo_clinical_subtype MONDO:0017513 split foot, unilateral biolink:Disease mondo ICD10:Q72.7|Orphanet:295124 ORPHA:295124 http://purl.obolibrary.org/obo/MONDO_0017513 ordo_clinical_subtype MONDO:0017514 split foot, bilateral biolink:Disease mondo ICD10:Q72.73|Orphanet:295126|ICD10:Q72.7 ORPHA:295126 http://purl.obolibrary.org/obo/MONDO_0017514 ordo_clinical_subtype MONDO:0017515 brachydactyly of fingers, unilateral biolink:Disease mondo Orphanet:295128|ICD10:Q71.8 ORPHA:295128 http://purl.obolibrary.org/obo/MONDO_0017515 short fingers, unilateral ordo_clinical_subtype MONDO:0017510 adactyly of foot, bilateral biolink:Disease mondo Orphanet:295118|ICD10:Q72.8 ORPHA:295118 http://purl.obolibrary.org/obo/MONDO_0017510 congenital absence of toes, bilateral ordo_clinical_subtype MONDO:0017511 split hand, unilateral biolink:Disease mondo ICD10:Q71.6|Orphanet:295120 Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. ORPHA:295120 http://purl.obolibrary.org/obo/MONDO_0017511 ordo_clinical_subtype MONDO:0005519 renal pelvis carcinoma biolink:Disease mondo NCIT:C6142|ICD10:C65|UMLS:C1335749|EFO:0005582|DOID:4919|SCTID:363457009|UMLS:C0153618|ICD9:189.1 A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. NCIT:C6142|DOID:4919|SNOMEDCT:363457009|UMLS:C1335749|UMLS:C0153618 http://purl.obolibrary.org/obo/MONDO_0005519 carcinoma of kidney pelvis|kidney pelvis carcinoma|renal pelvis cancer|carcinoma of renal pelvis|malignant tumor of renal pelvis|malignant renal pelvis neoplasm|carcinoma of the renal pelvis|kidney renal pelvis cancer|malignant neoplasm of renal pelvis|carcinoma of the kidney pelvis|cancer of renal pelvis|renal pelvis carcinoma UBERON:0014371 future telencephalon biolink:AnatomicalEntity mondo Embryonic structure that gives rise to the telencephalon. http://purl.obolibrary.org/obo/UBERON_0014371 presumptive telencephalon MONDO:0005538 proctitis biolink:Disease mondo SCTID:3951002|NCIT:C38011|EFO:0005628|ICD10:K62.89|UMLS:C0033246|MESH:D011349|ICD9:569.49|DOID:3127 An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. NCIT:C38011|UMLS:C0033246|DOID:3127|SNOMEDCT:3951002|MESH:D011349 http://purl.obolibrary.org/obo/MONDO_0005538 rectitis|anus inflammation|inflammation of anus MONDO:0005537 perianal Crohn disease biolink:Disease mondo EFO:0005627|UMLS:C0341395|SCTID:235796008 An Crohn disease involving a pathogenic inflammatory response in the anal canal. SNOMEDCT:235796008|UMLS:C0341395 http://purl.obolibrary.org/obo/MONDO_0005537 perianal Crohn's disease MONDO:0005539 small bowel Crohn disease biolink:Disease mondo EFO:0005629 An Crohn disease involving a pathogenic inflammatory response in the small intestine. http://purl.obolibrary.org/obo/MONDO_0005539 small bowel Crohn's disease GO:0044070 regulation of anion transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0044070 MONDO:0005534 ileocolitis biolink:Disease mondo MedDRA:10062647|EFO:0005624|UMLS:C0949272|DOID:0060190|ICD10:K52.9 Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. UMLS:C0949272|DOID:0060190 http://purl.obolibrary.org/obo/MONDO_0005534 MONDO:0005533 distal colitis biolink:Disease mondo ICD9:558.9|UMLS:C0860168|EFO:0005623|SCTID:373639002 Particular variety of ulcerative colitis where only the left half of the colon is inflamed. SNOMEDCT:373639002|UMLS:C0860168 http://purl.obolibrary.org/obo/MONDO_0005533 left colon inflammation|inflammation of left colon MONDO:0005536 pancolitis biolink:Disease mondo EFO:0005626 Ulcerative colitis that involves the entire colon. http://purl.obolibrary.org/obo/MONDO_0005536 pan-ulcerative colitis|universal colitis MONDO:0005535 oral Crohn disease biolink:Disease mondo EFO:0005625|UMLS:C0399497|SCTID:196578009 Crohn's disease affecting the mouth. UMLS:C0399497|SNOMEDCT:196578009 http://purl.obolibrary.org/obo/MONDO_0005535 oral Crohn's disease MONDO:0005530 opiate dependence biolink:Disease mondo ICD9:304.0|ICD10:F11.2|EFO:0005611|MESH:D009293|ICD9:304.00|DOID:2559|SCTID:75544000 Disorders related or resulting from abuse or mis-use of opioids. MESH:D009293|SNOMEDCT:75544000|DOID:2559 http://purl.obolibrary.org/obo/MONDO_0005530 narcotism|opioid dependence|opioid type dependence MONDO:0005532 Crohn's colitis biolink:Disease mondo ICD9:555.1|EFO:0005622|ICD10:K50.1|NCIT:C35211|DOID:0060192 Crohn's disease affecting the colon. NCIT:C35211|DOID:0060192 http://purl.obolibrary.org/obo/MONDO_0005532 Crohn colitis MONDO:0005531 morphine dependence biolink:Disease mondo SCTID:231479000|MESH:D009021|DOID:2560|EFO:0005612 Strong dependence, both physiological and emotional, upon morphine. MESH:D009021|SNOMEDCT:231479000|DOID:2560 http://purl.obolibrary.org/obo/MONDO_0005531 UBERON:0002393 pharyngotympanic tube biolink:AnatomicalEntity mondo Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA] http://purl.obolibrary.org/obo/UBERON_0002393 tuba pharyngotympanica|internal auditory tube|tuba auditoria|eustachian tube|pharyngo-tympanic tube|auditory tube|tuba auditiva; tuba auditoria; tuba auditivea|tuba auditiva CHEBI:35740 liposaccharide biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35740 liposaccharides MONDO:0017505 apodia, bilateral biolink:Disease mondo ICD10:Q72.3|Orphanet:295107 ORPHA:295107 http://purl.obolibrary.org/obo/MONDO_0017505 congenital absence of foot, bilateral ordo_clinical_subtype UBERON:0002392 nasolacrimal duct biolink:AnatomicalEntity mondo the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity http://purl.obolibrary.org/obo/UBERON_0002392 d. nasolacrimalis|tear duct|nasolacrimal duct - posterior naris MONDO:0017506 congenital absence/hypoplasia of thumb, unilateral biolink:Disease mondo ICD10:Q71.3|Orphanet:295110 Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. ORPHA:295110 http://purl.obolibrary.org/obo/MONDO_0017506 thumb hypodactyly, unilateral|thumb oligodactyly, unilateral ordo_clinical_subtype MONDO:0017507 congenital absence/hypoplasia of thumb, bilateral biolink:Disease mondo Orphanet:295112|ICD10:Q71.3 Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias. ORPHA:295112 http://purl.obolibrary.org/obo/MONDO_0017507 thumb oligodactyly, bilateral|thumb hypodactyly, bilateral ordo_clinical_subtype MONDO:0017508 congenital absence/hypoplasia of fingers excluding thumb, bilateral biolink:Disease mondo ICD10:Q71.3|Orphanet:295114 ORPHA:295114 http://purl.obolibrary.org/obo/MONDO_0017508 digits 2-5 hypodactyly, bilateral|Adactyly of hand, bilateral|digits 2-5 oligodactyly, bilateral ordo_clinical_subtype UBERON:0002394 bile duct biolink:AnatomicalEntity mondo Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. http://purl.obolibrary.org/obo/UBERON_0002394 gall duct|bile tube|hepatic duct|biliary duct MONDO:0017501 congenital absence of both lower leg and foot, bilateral biolink:Disease mondo ICD10:Q72.2|Orphanet:295099|ICD10:Q72.23 ORPHA:295099 http://purl.obolibrary.org/obo/MONDO_0017501 tibiofibular terminal transverse meromelia, bilateral ordo_clinical_subtype MONDO:0017502 acheiria, unilateral biolink:Disease mondo Orphanet:295101|ICD10:Q71.3 ORPHA:295101|UMLS:C0685393 http://purl.obolibrary.org/obo/MONDO_0017502 congenital absence of hand, unilateral ordo_clinical_subtype MONDO:0017503 acheiria, bilateral biolink:Disease mondo Orphanet:295103|ICD10:Q71.3|SCTID:371189003 ORPHA:295103|SNOMEDCT:371189003|UMLS:C0685394 http://purl.obolibrary.org/obo/MONDO_0017503 congenital absence of hand, bilateral ordo_clinical_subtype UBERON:0002391 lymph biolink:AnatomicalEntity mondo Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system through lymph capillaries[WP]. http://purl.obolibrary.org/obo/UBERON_0002391 lympha UBERON:0002390 hematopoietic system biolink:AnatomicalEntity mondo Anatomical system that is involved in the production of hematopoietic cells. http://purl.obolibrary.org/obo/UBERON_0002390 hemopoietic system|haematopoietic system|haematological system|hematological system|organa haemopoietica|hematolymphoid system|haemopoietic system|Blutbildungssystem MONDO:0017504 apodia, unilateral biolink:Disease mondo Orphanet:295105|ICD10:Q72.3 ORPHA:295105 http://purl.obolibrary.org/obo/MONDO_0017504 congenital absence of foot, unilateral ordo_clinical_subtype MONDO:0017500 congenital absence of both lower leg and foot, unilateral biolink:Disease mondo ICD10:Q72.2|Orphanet:295097 ORPHA:295097 http://purl.obolibrary.org/obo/MONDO_0017500 tibiofibular terminal transverse meromelia, unilateral ordo_clinical_subtype UBERON:0002397 maxilla biolink:AnatomicalEntity mondo The bone which normally forms the lateral upper jaw in osteichthyans, including tetrapods. http://purl.obolibrary.org/obo/UBERON_0002397 upper jaw bone|maxillae|maxillary bone GO:0093001 glycolysis from storage polysaccharide through glucose-1-phosphate biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of a storage polysaccharide into pyruvate through a glucose-1-phosphate intermediate, with the concomitant production of a small amount of ATP and the reduction of NAD to NADH. http://purl.obolibrary.org/obo/GO_0093001 rdfs:seeAlso seeAlso biolink:OntologyClass mondo http://www.w3.org/2000/01/rdf-schema#seeAlso http://www.w3.org/2000/01/rdf-schema#seeAlso UBERON:0002398 manus biolink:AnatomicalEntity mondo distal segment of the fore limb, including carpal region, metacarpal region and digits. http://purl.obolibrary.org/obo/UBERON_0002398 forefoot of quadruped|fore foot|fore paw|hand region|forelimb autopod|forefeet|forefoot|forepaw|hand|forelimb autopodium|terminal segment of free upper limb|fore-paw GO:0044085 cellular component biogenesis biolink:OntologyClass mondo A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis at cellular level MONDO:0005505 dysembryoplastic neuroepithelial tumor biolink:Disease mondo GARD:0010640|ICDO:9413/0|EFO:0005551|Orphanet:251946|SCTID:87211000119104|UMLS:C1266177|NCIT:C9505|ONCOTREE:DNT|DOID:2679 A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B SNOMEDCT:87211000119104|DOID:2679|ORPHA:251946|UMLS:C1266177|NCIT:C9505 http://purl.obolibrary.org/obo/MONDO_0005505 dysembryoplastic neuroepithelial neoplasm|dysembryoplastic neuroepithelial tumor (morphologic abnormality)|DNET|DNT ordo_disease|gard_rare MONDO:0005504 diphtheria biolink:Disease mondo SCTID:397428000|ICD9:032.9|COHD:434568|ICD10:A36|ICD9:032|NCIT:C34541|ICD10:A36.9|ICD10:A36.8|MESH:D004165|DOID:11405|ICD10:A36.3|Orphanet:1679|ICD10:A36.2|EFO:0005549|ICD10:A36.1|MedDRA:10013023|UMLS:C0012546|ICD10:A36.0|GARD:0001875 A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. UMLS:C0012546|MESH:D004165|DOID:11405|MEDDRA:10013023|SNOMEDCT:397428000|NCIT:C34541|ORPHA:1679 http://purl.obolibrary.org/obo/MONDO_0005504 Corynebacterium infection ordo_disease|gard_rare MONDO:0005507 gingival cancer biolink:Disease mondo EFO:0005557|ICD10:C03.9|UMLS:C0153364|MedDRA:10067807|NCIT:C9317|SCTID:363382005|ICD9:143.8|ICD9:143|ICD10:C03|DOID:8602|ICD9:143.9 A primary or metastatic malignant neoplasm that affects the gums. UMLS:C0153364|SNOMEDCT:363382005|DOID:8602|NCIT:C9317 http://purl.obolibrary.org/obo/MONDO_0005507 malignant tumour of gingiva|malignant gingival neoplasm|malignant tumor of the gingiva|malignant tumor of gingiva|gingiva cancer|gum cancer|malignant neoplasm of gum|malignant neoplasm of other sites of gum|cancer of gingiva|malignant gingival tumor|malignant gingiva neoplasm|malignant neoplasm of the gum|malignant gum tumor|malignant neoplasm of gingiva|malignant tumor of the gum|malignant neoplasm of the gingiva|malignant gum neoplasm|malignant tumor of gum MONDO:0005506 eccrine sweat gland cancer biolink:Disease mondo NCIT:C5559|EFO:0005553|UMLS:C1334577|DOID:4921 An cancer with eccrine differentiation arising from the sweat glands.B DOID:4921|NCIT:C5559|UMLS:C1334577 http://purl.obolibrary.org/obo/MONDO_0005506 malignant eccrine neoplasm of skin|malignant eccrine neoplasm of the skin|malignant eccrine skin tumor|malignant eccrine tumor of skin|malignant eccrine tumor of the skin|eccrine sweat gland cancer|malignant eccrine neoplasm|cancer of eccrine sweat gland|malignant eccrine sweat gland neoplasm|malignant eccrine tumor|malignant eccrine skin neoplasm|malignant neoplasm of eccrine sweat gland MONDO:0005501 congenital disorder of glycosylation type II biolink:Disease mondo MESH:C535747|EFO:0005546|DOID:0050571|OMIMPS:212066 A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. MESH:C535747|DOID:0050571 http://purl.obolibrary.org/obo/MONDO_0005501 MGAT2-CDG|MGAT2-CDG (CDG-2a)|MOGS-CDG|B4GALT1-CDG|congenital disorders of glycosylation, type II|MOGS-CDG (CDG-2b)|B4GALT1-CDG (CDG-2d) MONDO:0005500 congenital disorder of glycosylation type I biolink:Disease mondo OMIMPS:212065|EFO:0005545|DOID:0050570 A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. DOID:0050570 http://purl.obolibrary.org/obo/MONDO_0005500 MPDU1-CDG (CDG-1f)|PMM2-CDG (CDG-1a)|MPI-CDG|SRD5A3-CDG (CDG-1q)|ALG2-CDG|ALG12-CDG (CDG-1g)|ALG1-CDG|ALG8-CDG (CDG-1h)|DPM1-CDG (CDG-1e)|DPM2-CDG (CDG-1u)|DOLK-CDG (CDG-1m)|DPM3-CDG|PMM2-CDG|SRD5A3-CDG|RFT1-CDG|DPM2-CDG|MPI-CDG (CDG-1b)|DPM1-CDG|congenital disorders of glycosylation, type I|DPAGT1-CDG (CDG-1j)|ALG9-CDG (CDG-1l)|DPAGT1-CDG|ALG3-CDG (CDG-1d)|MPDU1-CDG|ALG12-CDG|ALG11-CDG (CDG-1p)|ALG9-CDG|ALG11-CDG|ALG8-CDG|ALG6-CDG (CDG-1c)|ALG2-CDG (CDG-1i)|ALG6-CDG|DOLK-CDG|RFT1-CDG (CDG-1n)|ALG1-CDG (CDG-1k)|DPM3-CDG (CDG-1o)|ALG3-CDG MONDO:0005503 developmental disorder of mental health biolink:Disease mondo SCTID:129104009|DOID:0060037|EFO:0005548|ICD9:315.8 A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. DOID:0060037|SNOMEDCT:129104009 http://purl.obolibrary.org/obo/MONDO_0005503 developmental mental disorder MONDO:0005502 dengue disease biolink:Disease mondo ICD10:A97.2|ICD10:A97.1|ICD10:A97.0|GARD:0006254|MESH:D003715|UMLS:C0011311|ICD10:A90|NCIT:C34528|ICD10:A97.9|Orphanet:99828|ICD9:061|DOID:12205|MedDRA:10012310|EFO:0005547|SCTID:38362002 Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). UMLS:C0011311|SNOMEDCT:38362002|DOID:12205|MEDDRA:10012310|MESH:D003715|ORPHA:99828|NCIT:C34528 http://purl.obolibrary.org/obo/MONDO_0005502 Dengue virus infectious disease|Dengue virus caused disease or disorder|Dengue|Dengue fever|break bone fever|Thai hemorrhagic fever|classical dengue|classic dengue|DF|breakbone fever|hemorrhagic dengue|Singapore hemorrhagic fever|Dengue virus infection|Dengue virus disease or disorder|Philippine hemorrhagic fever ordo_disease GO:0044089 positive regulation of cellular component biogenesis biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. http://purl.obolibrary.org/obo/GO_0044089 CHEBI:35718 antifungal agent biolink:ChemicalSubstance mondo An antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce. http://purl.obolibrary.org/obo/CHEBI_35718 antifungals|antifungal drug|antifungal agents|antifungal drugs|antifungal GO:0044087 regulation of cellular component biogenesis biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. http://purl.obolibrary.org/obo/GO_0044087 UBERON:0002384 connective tissue biolink:AnatomicalEntity mondo Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. http://purl.obolibrary.org/obo/UBERON_0002384 portion of connective tissue|Bindegewebe|textus connectivus UBERON:0002389 manual digit biolink:AnatomicalEntity mondo A digit that is part of a manus (hand). http://purl.obolibrary.org/obo/UBERON_0002389 hand digit|forelimb digit|fore digit|finger|manual digit (phalangeal portion) plus soft tissue|digit of hand|digitus manus|digit of manus UBERON:0002386 forelimb zeugopod biolink:AnatomicalEntity mondo The middle limb segment of the pectoral free limb, between the autopod and stylopod segments. Includes as parts the forelimb zeugopodial skeleton, which includes as parts the radius and ulna, or their cartilage precursors, or evolutionary variants. http://purl.obolibrary.org/obo/UBERON_0002386 zeugopod of forelimb|zeugopod of brachial region|antebrachium|antebrachial region|forelimb epipodium|arm zeugopod|middle limb segment of forelimb|brachial region middle limb segment|middle limb segment of proximal segment of free upper limb|antebrachium|middle limb segment of arm|zeugopod of proximal segment of free upper limb|fore epipodium|zeugopod of arm|forearm|lower segment of arm|intermediate segment of free upper limb|wing zeugopod|brachial region zeugopod|antibrachium|lower arm|middle limb segment of brachial region|forelimb zeugopodium|regio antebrachialis|arm middle limb segment|forelimb zygopod UBERON:0002385 muscle tissue biolink:AnatomicalEntity mondo Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. http://purl.obolibrary.org/obo/UBERON_0002385 muscular tissue|portion of muscle tissue|textus muscularis UBERON:0002387 pes biolink:AnatomicalEntity mondo distal portion of the hind limb, including tarsal region, metatarsal region and digits. http://purl.obolibrary.org/obo/UBERON_0002387 hind limb autopodium|hindfoot|hindfeet|hind-paw|hindpaw|hind paw|hindlimb autopodium|hindlimb distal free limb segment|hindlimb autopod|pes|foot|terminal segment of free lower limb|hind foot|hindfoot of quadruped MONDO:0005516 osteochondrodysplasia biolink:Disease mondo NCIT:C84978|DOID:2256|ICD9:756.4|SCTID:105985007|UMLS:C0029422|ICD10:Q78.9|EFO:0005571|GARD:0006051|MESH:D010009 A term referring to disorders characterized by abnormalities in the development of bones and cartilage. MESH:D010009|DOID:2256|UMLS:C0029422|NCIT:C84978|SNOMEDCT:105985007 http://purl.obolibrary.org/obo/MONDO_0005516 osteochondrodysplasia|congenital anomaly of cartilage|osteochondrodysplasia syndrome|skeletal dysplasia|congenital skeletal dysplasia|cartilage development disorder|chondrodystrophy MONDO:0005515 oral cavity cancer biolink:Disease mondo NCIT:C9314|SCTID:363505006|ICD9:145.8|ICD10:C04.9|ICD9:144.9|COHD:25189|EFO:0005570|ICD9:144|ICD9:144.1|ICD10:C04.1|ICD9:144.0|ICD9:145.9|ICD10:C04.0|DOID:8618|ICD10:C04|ICD9:149.8 A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas. SNOMEDCT:363505006|DOID:8618|NCIT:C9314 http://purl.obolibrary.org/obo/MONDO_0005515 malignant neoplasm of lateral floor of mouth|malignant tumor of the mouth|malignant mouth neoplasm|oral cavity cancer|malignant tumor of mouth|malignant tumor of anterior floor of mouth|malignant tumor of lateral floor of mouth|malignant neoplasm of anterior portion of floor of mouth|malignant tumor of the floor of the mouth|cancer of oral cavity|malignant neoplasm of lateral portion of floor of mouth|malignant neoplasm of floor of mouth|mouth cancer|malignant neoplasm of the mouth|malignant tumor of oral cavity|malignant oral cavity tumor|malignant neoplasm of mouth|malignant mouth tumor|malignant neoplasm of oral cavity|malignant oral cavity neoplasm GO:0071692 protein localization to extracellular region biolink:OntologyClass mondo Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. http://purl.obolibrary.org/obo/GO_0071692 protein localization in extracellular region|protein localisation in extracellular region MONDO:0005518 pseudohermaphroditism biolink:Disease mondo COHD:73584|Wikipedia:Pseudohermaphroditism|SCTID:75164001|ICD9:752.7|DOID:3765|ICD10:Q56.3|ICD10:Q56|NCIT:C124575|EFO:0005579 A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex. DOID:3765|NCIT:C124575|SNOMEDCT:75164001 http://purl.obolibrary.org/obo/MONDO_0005518 indeterminate sex and pseudohermaphroditism MONDO:0005517 pharynx cancer biolink:Disease mondo EFO:0005577|DOID:0060119|NCIT:C7545|MESH:D010610 A primary or metastatic malignant neoplasm that affects the pharynx. NCIT:C7545|DOID:0060119|MESH:D010610 http://purl.obolibrary.org/obo/MONDO_0005517 malignant tumor of the pharynx|malignant tumor of pharynx|pharyngeal cancer|malignant pharynx neoplasm|cancer of pharynx|malignant neoplasm of chordate pharynx|pharynx cancer|pharynx neoplasm|malignant pharyngeal neoplasm|pharyngeal neoplasm|malignant pharynx tumor|malignant neoplasm of pharynx|cancer of chordate pharynx|malignant pharyngeal tumor|chordate pharynx cancer|malignant chordate pharynx neoplasm MONDO:0005512 malignant peritoneal mesothelioma biolink:Disease mondo MedDRA:10056558|DOID:1788|NCIT:C8704|ICD10:C45.1|Orphanet:168811|EFO:0005567 An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. MEDDRA:10056558|DOID:1788|UMLS:C0346109|ORPHA:168811|NCIT:C8704 http://purl.obolibrary.org/obo/MONDO_0005512 advanced malignant mesothelioma of the peritoneum|diffuse malignant peritoneal mesothelioma|malignant peritoneal mesothelioma, advanced|primary malignant peritoneal mesothelioma|advanced malignant peritoneal mesothelioma|advanced peritoneal malignant mesothelioma|peritoneal mesothelioma|peritoneal mesothelioma (disease), malignant|malignant mesothelioma of peritoneum|advanced malignant mesothelioma of peritoneum|malignant mesothelioma (disease) of peritoneum|peritoneum malignant mesothelioma (disease) ordo_disease GO:0044092 negative regulation of molecular function biolink:OntologyClass mondo Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/GO_0044092 GO:0044093 positive regulation of molecular function biolink:OntologyClass mondo Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/GO_0044093 MONDO:0005511 janus kinase-3 deficiency biolink:Disease mondo DOID:0060008|Wikipedia:Janus_kinase_3_deficiency|EFO:0005565 Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency. DOID:0060008 http://purl.obolibrary.org/obo/MONDO_0005511 MONDO:0005514 nanophthalmia biolink:Disease mondo Orphanet:35612|SCTID:716775009 Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. ORPHA:35612|SNOMEDCT:716775009 http://purl.obolibrary.org/obo/MONDO_0005514 ordo_malformation_syndrome MONDO:0005513 obsolete methylmalonic aciduria and homocystinuria type cblE biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005513 CL:2000000 epidermal melanocyte biolink:Cell mondo Any melanocyte that is part of a epidermis. http://purl.obolibrary.org/obo/CL_2000000 MONDO:0005510 hydronephrosis biolink:Disease mondo NCIT:C26796|EFO:0005562|DOID:11111|SCTID:43064006|UMLS:C0020295|ICD9:591|ICD10:N13.30|COHD:433811|MESH:D006869 Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. DOID:11111|MESH:D006869|NCIT:C26796|UMLS:C0020295|SNOMEDCT:43064006 http://purl.obolibrary.org/obo/MONDO_0005510 UBERON:0002371 bone marrow biolink:AnatomicalEntity mondo the soft tissue that fills the cavities of bones http://purl.obolibrary.org/obo/UBERON_0002371 medulla ossium|medulla ossea|medulla of bone|medullary bone UBERON:0002370 thymus biolink:AnatomicalEntity mondo Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. http://purl.obolibrary.org/obo/UBERON_0002370 thymus gland|thymus organ UBERON:0002373 palatine tonsil biolink:AnatomicalEntity mondo tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP]. http://purl.obolibrary.org/obo/UBERON_0002373 tonsil|faucial tonsil|tonsilla palatina|Gaumenmandel@de UBERON:0002372 tonsil biolink:AnatomicalEntity mondo either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx http://purl.obolibrary.org/obo/UBERON_0002372 Mandel UBERON:0002378 muscle of abdomen biolink:AnatomicalEntity mondo Muscle (organ) which is a part of the abdomen. Examples: external oblique, rectus abdominis. http://purl.obolibrary.org/obo/UBERON_0002378 abdominal wall musculature|abdominal wall muscle|abdomen muscle organ|abdomen muscle|abdominal muscle|muscle organ of abdomen MONDO:0005509 histiocytoma biolink:Disease mondo SCTID_2010_1_31:154614002|SCTID_2010_1_31:128741006|MESH:D051642|SCTID_2010_1_31:72079004|ICDO:8831/0|NCIT:C35765|SCTID_2010_1_31:302843004|EFO:0005561|DOID:4231|SCTID_2010_1_31:189773000|UMLS:C1509147 A mesenchymal tumor composed of fibroblastic and histiocytic cells. NCIT:C35765|DOID:4231|MESH:D051642|UMLS:C1509147 http://purl.obolibrary.org/obo/MONDO_0005509 histiocytoma UBERON:0002374 metacarpal bone biolink:AnatomicalEntity mondo A bone that is part of the metacarpal skeleton. http://purl.obolibrary.org/obo/UBERON_0002374 metacarpal MONDO:0005508 hereditary multiple osteochondromas biolink:Disease mondo DC:0000143|MESH:D005097|UMLS:CN204014|DOID:206|NCIT:C5183|Orphanet:321|EFO:0005560|GARD:0007035|SCTID:716742001|SCTID:254044004|ICD10:Q78.6 Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. ORPHA:321|SNOMEDCT:716742001|SNOMEDCT:254044004|MESH:D005097|NCIT:C5183|UMLS:CN204014|DOID:206 http://purl.obolibrary.org/obo/MONDO_0005508 multiple cartilaginous exostoses|exostoses, multiple|multiple exostoses|multiple congenital exostosis|EXT|hereditary multiple exostoses 3|HMO|hereditary multiple exostoses 2|hereditary multiple exostoses 1|multiple exostosis syndromes|hereditary multiple exostoses|osteochondromatosis syndrome (disorder) [ambiguous]|multiple ostechondromas|osteochondromatosis syndrome|Bessel-Hagen disease|hereditary multiple exostosis ordo_disease|gard_rare GO:0071696 ectodermal placode development biolink:OntologyClass mondo The progression of an ectodermal placode over time from its initial formation until its mature state. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. http://purl.obolibrary.org/obo/GO_0071696 UBERON:0002377 muscle of neck biolink:AnatomicalEntity mondo Any muscle that is part of the cervical (neck) region. http://purl.obolibrary.org/obo/UBERON_0002377 muscle organ of neck (volume)|neck (volume) muscle organ|muscle organ of neck|neck muscle organ|neck muscle GO:0071695 anatomical structure maturation biolink:OntologyClass mondo A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. http://purl.obolibrary.org/obo/GO_0071695 UBERON:0002376 cranial muscle biolink:AnatomicalEntity mondo Any skeletal muscle that is part of the head region. http://purl.obolibrary.org/obo/UBERON_0002376 head muscles|muscle organ of head|muscle of head|cephalic musculature|cranial muscle|cephalic muscle|adult head muscle organ|head muscle organ|head muscle|muscle organ of adult head|musculus caput HGNC:757 ASPH biolink:OntologyClass mondo http://identifiers.org/hgnc/757 HGNC:756 ASPA biolink:OntologyClass mondo http://identifiers.org/hgnc/756 HGNC:753 ASNS biolink:OntologyClass mondo http://identifiers.org/hgnc/753 GO:0010888 negative regulation of lipid storage biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/GO_0010888 GO:0010889 regulation of sequestering of triglyceride biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. http://purl.obolibrary.org/obo/GO_0010889 regulation of triacylglycerol sequestration|regulation of sequestering of triacylglycerol GO:0009891 positive regulation of biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/GO_0009891 up regulation of biosynthetic process|stimulation of biosynthetic process|activation of biosynthetic process|up-regulation of biosynthetic process|positive regulation of anabolism|upregulation of biosynthetic process|positive regulation of synthesis|positive regulation of formation|positive regulation of biosynthesis GO:0009892 negative regulation of metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/GO_0009892 down regulation of metabolic process|negative regulation of multicellular organismal metabolic process|inhibition of organismal metabolic process|negative regulation of organismal metabolism|downregulation of metabolic process|inhibition of metabolic process|negative regulation of metabolism|down-regulation of metabolic process GO:0009893 positive regulation of metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/GO_0009893 upregulation of metabolic process|positive regulation of metabolism|up-regulation of metabolic process|positive regulation of multicellular organismal metabolic process|up-regulation of organismal metabolic process|up regulation of metabolic process|activation of metabolic process|positive regulation of organismal metabolism|stimulation of organismal metabolic process|stimulation of metabolic process GO:0009894 regulation of catabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances. http://purl.obolibrary.org/obo/GO_0009894 regulation of degradation|regulation of catabolism|regulation of breakdown GO:0046849 bone remodeling biolink:OntologyClass mondo The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. http://purl.obolibrary.org/obo/GO_0046849 bone remodelling GO:0019218 regulation of steroid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. http://purl.obolibrary.org/obo/GO_0019218 regulation of steroid metabolism GO:0009895 negative regulation of catabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. http://purl.obolibrary.org/obo/GO_0009895 negative regulation of breakdown|down-regulation of catabolic process|negative regulation of catabolism|down regulation of catabolic process|inhibition of catabolic process|negative regulation of degradation|downregulation of catabolic process GO:0010884 positive regulation of lipid storage biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/GO_0010884 positive regulation of lipid sequestration GO:0009896 positive regulation of catabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. http://purl.obolibrary.org/obo/GO_0009896 up regulation of catabolic process|activation of catabolic process|stimulation of catabolic process|upregulation of catabolic process|positive regulation of degradation|positive regulation of catabolism|up-regulation of catabolic process|positive regulation of breakdown GO:0019219 regulation of nucleobase-containing compound metabolic process biolink:OntologyClass mondo Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0019219 regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process GO:0019216 regulation of lipid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/GO_0019216 regulation of lipid metabolism GO:0019217 regulation of fatty acid metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. http://purl.obolibrary.org/obo/GO_0019217 regulation of fatty acid metabolism GO:0010883 regulation of lipid storage biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/GO_0010883 regulation of lipid sequestration GO:0007249 I-kappaB kinase/NF-kappaB signaling biolink:OntologyClass mondo The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. http://purl.obolibrary.org/obo/GO_0007249 NF-kappaB cascade|I-kappaB kinase/NF-kappaB cascade|canonical NF-kappaB signaling cascade|p50-dependent NF-kappaB signaling|I-kappaB kinase/NF-kappaB signal transduction|activation of the inhibitor of kappa kinase GO:0046852 positive regulation of bone remodeling biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of bone remodeling. http://purl.obolibrary.org/obo/GO_0046852 activation of bone remodeling|stimulation of bone remodeling|upregulation of bone remodeling|up-regulation of bone remodeling|up regulation of bone remodeling GO:0046851 negative regulation of bone remodeling biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling. http://purl.obolibrary.org/obo/GO_0046851 down-regulation of bone remodeling|down regulation of bone remodeling|inhibition of bone remodeling|downregulation of bone remodeling GO:0046850 regulation of bone remodeling biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity. http://purl.obolibrary.org/obo/GO_0046850 GO:0010891 negative regulation of sequestering of triglyceride biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. http://purl.obolibrary.org/obo/GO_0010891 negative regulation of sequestering of triacylglycerol|negative regulation of triglyceride sequestration GO:0010890 positive regulation of sequestering of triglyceride biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. http://purl.obolibrary.org/obo/GO_0010890 positive regulation of sequestering of triacylglycerol|positive regulation of triglyceride sequestration GO:0019229 regulation of vasoconstriction biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels. http://purl.obolibrary.org/obo/GO_0019229 GO:0010893 positive regulation of steroid biosynthetic process biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/GO_0010893 GO:0010894 negative regulation of steroid biosynthetic process biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/GO_0010894 GO:0019226 transmission of nerve impulse biolink:OntologyClass mondo The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. http://purl.obolibrary.org/obo/GO_0019226 conduction of nerve impulse|signal transmission along a neuron GO:0019221 cytokine-mediated signaling pathway biolink:OntologyClass mondo A series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0019221 cytokine and chemokine mediated signaling pathway|cytokine mediated signalling pathway GO:0019222 regulation of metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/GO_0019222 regulation of multicellular organismal metabolic process|regulation of metabolism|regulation of organismal metabolic process SO:0001235 replicon biolink:SequenceFeature mondo A region containing at least one unique origin of replication and a unique termination site. http://purl.obolibrary.org/obo/SO_0001235 CHEBI:59698 phosphoric acids biolink:ChemicalSubstance mondo Compounds containing one or more phosphoric acid units. http://purl.obolibrary.org/obo/CHEBI_59698 CHEBI:72695 organic molecule biolink:ChemicalSubstance mondo Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. http://purl.obolibrary.org/obo/CHEBI_72695 organic compound|organic molecules|organic compounds HGNC:758 ASS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/758 GO:0019220 regulation of phosphate metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolism HGNC:735 ASAH1 biolink:OntologyClass mondo http://identifiers.org/hgnc/735 SO:0001272 tRNA_gene biolink:SequenceFeature mondo A noncoding RNA that binds to a specific amino acid to allow that amino acid to be used by the ribosome during translation of RNA. http://purl.obolibrary.org/obo/SO_0001272 tRNA gene GO:0007215 glutamate receptor signaling pathway biolink:OntologyClass mondo A series of molecular signals initiated by the binding of glutamate to a glutamate receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0007215 glutamate signalling pathway|glutamate signaling pathway GO:0071829 plasma lipoprotein particle disassembly biolink:OntologyClass mondo The disaggregation of a plasma lipoprotein particle into its constituent components. http://purl.obolibrary.org/obo/GO_0071829 GO:0071827 plasma lipoprotein particle organization biolink:OntologyClass mondo A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins. http://purl.obolibrary.org/obo/GO_0071827 plasma lipoprotein particle organisation GO:0071826 ribonucleoprotein complex subunit organization biolink:OntologyClass mondo Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex subunit organization|RNA-protein complex subunit organization|ribonucleoprotein complex subunit organisation GO:0071825 protein-lipid complex subunit organization biolink:OntologyClass mondo Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex. http://purl.obolibrary.org/obo/GO_0071825 protein-lipid complex subunit organisation GO:0022857 transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0022857 uptake permease activity|substrate-specific transmembrane transporter activity|uptake transmembrane transporter activity|substrate-specific transporter activity SO:0001268 snRNA_gene biolink:SequenceFeature mondo A gene that encodes a small nuclear RNA. http://purl.obolibrary.org/obo/SO_0001268 snRNA gene|small nuclear RNA gene SO:0001265 miRNA_gene biolink:SequenceFeature mondo A small noncoding RNA of approximately 22 nucleotides in length which may be involved in regulation of gene expression. http://purl.obolibrary.org/obo/SO_0001265 stRNA gene|stRNA_gene|miRNA gene HGNC:746 ASL biolink:OntologyClass mondo http://identifiers.org/hgnc/746 SO:0001267 snoRNA_gene biolink:SequenceFeature mondo A small noncoding RNA that guides chemical modification of other RNAs. http://purl.obolibrary.org/obo/SO_0001267 snoRNA gene SO:0001260 sequence_collection biolink:SequenceFeature mondo A collection of discontinuous sequences. http://purl.obolibrary.org/obo/SO_0001260 sequence collection SO:0001263 ncRNA_gene biolink:SequenceFeature mondo A gene that encodes a non-coding RNA. http://purl.obolibrary.org/obo/SO_0001263 non-coding RNA gene|ncRNA gene GO:0010877 lipid transport involved in lipid storage biolink:OntologyClass mondo The directed movement of lipids into cells that is part of their accumulation and maintenance. http://purl.obolibrary.org/obo/GO_0010877 GO:0010876 lipid localization biolink:OntologyClass mondo Any process in which a lipid is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0010876 lipid localisation GO:0046873 metal ion transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of metal ions from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0046873 heavy metal ion transporter activity|high affinity metal ion uptake transporter activity|low affinity metal ion uptake transporter activity|heavy metal-exporting ATPase activity|heavy metal ion porter activity|heavy metal ion:hydrogen symporter activity GO:0009890 negative regulation of biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/GO_0009890 negative regulation of formation|downregulation of biosynthetic process|down regulation of biosynthetic process|inhibition of biosynthetic process|down-regulation of biosynthetic process|negative regulation of biosynthesis|negative regulation of anabolism|negative regulation of synthesis GO:0046879 hormone secretion biolink:OntologyClass mondo The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. http://purl.obolibrary.org/obo/GO_0046879 GO:0009887 animal organ morphogenesis biolink:OntologyClass mondo Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/GO_0009887 histogenesis and organogenesis GO:0009888 tissue development biolink:OntologyClass mondo The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0009888 histogenesis and organogenesis|histogenesis GO:0019203 carbohydrate phosphatase activity biolink:OntologyClass mondo Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. http://purl.obolibrary.org/obo/GO_0019203 GO:0009889 regulation of biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/GO_0009889 regulation of anabolism|regulation of synthesis|regulation of biosynthesis|regulation of formation GO:0022843 voltage-gated cation channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/GO_0022843 GO:0022848 acetylcholine-gated cation-selective channel activity biolink:OntologyClass mondo Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. http://purl.obolibrary.org/obo/GO_0022848 nicotinic acetylcholine-activated cation-selective channel activity|acetylcholine-gated cation channel activity|nicotinergic acetylcholine receptor activity|ionotropic acetylcholine receptor activity|nAChR|acetylcholine-activated cation-selective channel activity HGNC:738 ASCL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/738 GO:0019200 carbohydrate kinase activity biolink:OntologyClass mondo Catalysis of the transfer of a phosphate group, usually from ATP, to a carbohydrate substrate molecule. http://purl.obolibrary.org/obo/GO_0019200 HGNC:713 ARSA biolink:OntologyClass mondo http://identifiers.org/hgnc/713 GO:0046888 negative regulation of hormone secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a hormone from a cell. http://purl.obolibrary.org/obo/GO_0046888 down regulation of hormone secretion|inhibition of hormone secretion|downregulation of hormone secretion|down-regulation of hormone secretion GO:0046887 positive regulation of hormone secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell. http://purl.obolibrary.org/obo/GO_0046887 up-regulation of hormone secretion|up regulation of hormone secretion|activation of hormone secretion|stimulation of hormone secretion|upregulation of hormone secretion GO:0046886 positive regulation of hormone biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. http://purl.obolibrary.org/obo/GO_0046886 upregulation of hormone biosynthetic process|positive regulation of hormone biosynthesis|positive regulation of hormone anabolism|up regulation of hormone biosynthetic process|stimulation of hormone biosynthetic process|positive regulation of hormone synthesis|up-regulation of hormone biosynthetic process|activation of hormone biosynthetic process|positive regulation of hormone formation GO:0046885 regulation of hormone biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. http://purl.obolibrary.org/obo/GO_0046885 regulation of hormone anabolism|regulation of hormone synthesis|regulation of hormone formation|regulation of hormone biosynthesis GO:0046883 regulation of hormone secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell. http://purl.obolibrary.org/obo/GO_0046883 CHEBI:35695 dicarboxylic acid monoanion biolink:ChemicalSubstance mondo Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid. http://purl.obolibrary.org/obo/CHEBI_35695 dicarboxylic acid monoanions GO:0046889 positive regulation of lipid biosynthetic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. http://purl.obolibrary.org/obo/GO_0046889 positive regulation of lipid biosynthesis|positive regulation of lipid synthesis|up regulation of lipid biosynthetic process|positive regulation of lipid formation|stimulation of lipid biosynthetic process|up-regulation of lipid biosynthetic process|positive regulation of lipogenesis|activation of lipid biosynthetic process|positive regulation of lipid anabolism|upregulation of lipid biosynthetic process GO:0022832 voltage-gated channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/GO_0022832 GO:0022835 transmitter-gated channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of a solute by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. http://purl.obolibrary.org/obo/GO_0022835 neurotransmitter-gated channel activity|extracellular substance gated channel activity GO:0022834 ligand-gated channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. http://purl.obolibrary.org/obo/GO_0022834 GO:0071840 cellular component organization or biogenesis biolink:OntologyClass mondo A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/GO_0071840 cellular component organisation or biogenesis|cellular component organisation or biogenesis at cellular level|cellular component organization or biogenesis at cellular level CHEBI:35692 dicarboxylic acid biolink:ChemicalSubstance mondo Any carboxylic acid containing two carboxy groups. http://purl.obolibrary.org/obo/CHEBI_35692 Dicarboxylic acid|dicarboxylic acids GO:0022836 gated channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus. http://purl.obolibrary.org/obo/GO_0022836 GO:0022839 ion gated channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of a solute by a channel that opens in response to a specific ion stimulus. http://purl.obolibrary.org/obo/GO_0022839 GO:0022838 biolink:OntologyClass mondo http://purl.obolibrary.org/obo/GO_0022838 CHEBI:35693 dicarboxylic acid anion biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35693 dicarboxylic acid anions|dicarboxylic acid anion GO:0046890 regulation of lipid biosynthetic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. http://purl.obolibrary.org/obo/GO_0046890 regulation of lipid anabolism|regulation of lipid biosynthesis|regulation of lipid synthesis|regulation of lipid formation|regulation of lipogenesis GO:0044237 cellular metabolic process biolink:OntologyClass mondo The chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/GO_0044237 intermediary metabolism|cellular metabolism GO:0140096 catalytic activity, acting on a protein biolink:OntologyClass mondo Catalytic activity that acts to modify a protein. http://purl.obolibrary.org/obo/GO_0140096 GO:0022829 wide pore channel activity biolink:OntologyClass mondo Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts. http://purl.obolibrary.org/obo/GO_0022829 non-gated, wide pore channel activity|gap junction activity GO:0044238 primary metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/GO_0044238 primary metabolism HGNC:719 ARSL biolink:OntologyClass mondo http://identifiers.org/hgnc/719 GO:0022824 transmitter-gated ion channel activity biolink:OntologyClass mondo Enables the transmembrane transfer of an ion by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. http://purl.obolibrary.org/obo/GO_0022824 ionotropic neurotransmitter receptor activity GO:0071830 triglyceride-rich lipoprotein particle clearance biolink:OntologyClass mondo The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. http://purl.obolibrary.org/obo/GO_0071830 HGNC:714 ARSB biolink:OntologyClass mondo http://identifiers.org/hgnc/714 GO:0010828 positive regulation of glucose transmembrane transport biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0010828 positive regulation of glucose transport GO:0010829 negative regulation of glucose transmembrane transport biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0010829 negative regulation of glucose transport GO:0010822 positive regulation of mitochondrion organization biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. http://purl.obolibrary.org/obo/GO_0010822 positive regulation of mitochondrion organisation GO:0010823 negative regulation of mitochondrion organization biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. http://purl.obolibrary.org/obo/GO_0010823 negative regulation of mitochondrion organisation GO:0044248 cellular catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044248 cellular catabolism|cellular degradation|cellular breakdown GO:0010821 regulation of mitochondrion organization biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. http://purl.obolibrary.org/obo/GO_0010821 regulation of mitochondrion organisation GO:0010827 regulation of glucose transmembrane transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0010827 regulation of glucose transport GO:0044249 cellular biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthesis|cellular anabolism|cellular synthesis|cellular formation FOODON:03411564 food product organismal source biolink:OntologyClass mondo This is a hierarchy of organisms, grouped minimally in a combination of taxonomy and consumer-oriented food groups. http://purl.obolibrary.org/obo/FOODON_03411564 GO:0044255 cellular lipid metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving lipids, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolism GO:0022804 active transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/GO_0022804 pump activity|carrier activity|active carrier activity|permease activity GO:0022803 passive transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. http://purl.obolibrary.org/obo/GO_0022803 porters|facilitated diffusion|uniporter activity z MONDO:0017390 methylmalonic acidemia without homocystinuria biolink:Disease mondo ICD10:E71.1|Orphanet:293355 Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. ORPHA:293355 http://purl.obolibrary.org/obo/MONDO_0017390 methylmalonic aciduria without homocystinuria ordo_group_of_disorders MONDO:0017391 Grayson-Wilbrandt corneal dystrophy biolink:Disease mondo SCTID:717286002|ICD10:H18.5|Orphanet:293375 Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity. ORPHA:293375|SNOMEDCT:717286002 http://purl.obolibrary.org/obo/MONDO_0017391 GWCD ordo_disease MONDO:0017392 pre-descemet corneal dystrophy biolink:Disease mondo Orphanet:293462|SCTID:231934009|ICD9:371.56|ICD10:H18.5 Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision. UMLS:C0339282|ORPHA:293462|SNOMEDCT:231934009 http://purl.obolibrary.org/obo/MONDO_0017392 PDCD ordo_disease MONDO:0017393 blepharophimosis - intellectual disability syndrome biolink:Disease mondo UMLS:CN203134|Orphanet:293642|GARD:0010892 ORPHA:293642|UMLS:CN203134 http://purl.obolibrary.org/obo/MONDO_0017393 BMRS|Say Barber Biesecker Young-Simpson syndrome|SBBYS syndrome|blepharophimosis intellectual disability syndromes|blepharophimosis syndrome Ohdo type|Young Simpson syndrome|blepharophimosis mental retardation syndromes ordo_group_of_disorders GO:0032270 positive regulation of cellular protein metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/GO_0032270 positive regulation of cellular protein metabolism|upregulation of cellular protein metabolic process|up regulation of cellular protein metabolic process|stimulation of cellular protein metabolic process|up-regulation of cellular protein metabolic process|activation of cellular protein metabolic process MONDO:0017398 3MC syndrome biolink:Disease mondo GARD:0001118|SCTID:720756005|DOID:0060225|Orphanet:293843|OMIMPS:257920|ICD10:Q87.8|UMLS:CN230015 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti. UMLS:CN230015|DOID:0060225|ORPHA:293843|SNOMEDCT:720756005 http://purl.obolibrary.org/obo/MONDO_0017398 craniofacial-ulnar-renal syndrome|oculopalatoskeletal syndrome|Malpuech-Michels-Mingarelli-Carnevale syndrome ordo_malformation_syndrome|gard_rare MONDO:0017399 frontotemporal dementia, right temporal atrophy variant biolink:Disease mondo Orphanet:293848|ICD10:G31.0|UMLS:CN203142|SCTID:716667005 Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. ORPHA:293848|UMLS:CN203142|SNOMEDCT:716667005 http://purl.obolibrary.org/obo/MONDO_0017399 RTLA|rvFTD ordo_disease GO:0032278 positive regulation of gonadotropin secretion biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin. http://purl.obolibrary.org/obo/GO_0032278 positive regulation of gonadotrophin secretion|upregulation of gonadotropin secretion|stimulation of gonadotropin secretion|up regulation of gonadotropin secretion|activation of gonadotropin secretion|up-regulation of gonadotropin secretion GO:0032277 negative regulation of gonadotropin secretion biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin. http://purl.obolibrary.org/obo/GO_0032277 down regulation of gonadotropin secretion|negative regulation of gonadotrophin secretion|inhibition of gonadotropin secretion|down-regulation of gonadotropin secretion|downregulation of gonadotropin secretion MONDO:0017394 ketamine-induced biliary dilatation biolink:Disease mondo Orphanet:293807|UMLS:CN227122|UMLS:C4512018|SCTID:726613003 Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients. SNOMEDCT:726613003|UMLS:C4512018|ORPHA:293807|UMLS:CN227122 http://purl.obolibrary.org/obo/MONDO_0017394 ordo_clinical_situation GO:0032276 regulation of gonadotropin secretion biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin. http://purl.obolibrary.org/obo/GO_0032276 regulation of gonadotrophin secretion MONDO:0017395 fixed pigmented erythema biolink:Disease mondo Orphanet:293812|SCTID:73692007|MedDRA:10048796 SNOMEDCT:73692007|MEDDRA:10048796|UMLS:C0877391|ORPHA:293812 http://purl.obolibrary.org/obo/MONDO_0017395 fixed drug eruption ordo_disease GO:0032274 gonadotropin secretion biolink:OntologyClass mondo The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone. http://purl.obolibrary.org/obo/GO_0032274 gonadotrophin secretion MONDO:0017396 toxic dermatosis biolink:Disease mondo Orphanet:293815 ORPHA:293815 http://purl.obolibrary.org/obo/MONDO_0017396 ordo_group_of_disorders MONDO:0017397 constitutional dyserythropoietic anemia biolink:Disease mondo ICD10:D64.4|Orphanet:293830 ORPHA:293830 http://purl.obolibrary.org/obo/MONDO_0017397 ordo_group_of_disorders MONDO:0017380 juvenile polyposis syndrome biolink:Disease mondo SCTID:9273005|GARD:0003065|Orphanet:2929|UMLS:CN239474|NCIT:C7754|ICD10:D12.6 Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract. ORPHA:2929|SNOMEDCT:9273005|NCIT:C7754|UMLS:CN239474 http://purl.obolibrary.org/obo/MONDO_0017380 PJI|juvenile multiple polyps syndrome|jPS|juvenile intestinal polyposis|JIP|polyposis familial of entire gastrointestinal tract|juvenile polyposis syndrome|polyposis juvenile intestinal|juvenile polyposis|juvenile gastrointestinal polyposis ordo_disease MONDO:0017381 congenital herpes simplex virus infection biolink:Disease mondo GARD:0007173|SCTID:91576008|GARD:0001486|UMLS:C0276225|ICD10:P35.2|ICD9:771.2|Orphanet:293 Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. SNOMEDCT:91576008|ORPHA:293|UMLS:C0276225 http://purl.obolibrary.org/obo/MONDO_0017381 mother-to-child transmission of herpes simplex virus infection|Simplexvirus caused infectious embryofetopathy|neonatal herpes simplex virus infection|Simplexvirus infectious embryofetopathy|congenital herpes simplex|antenatal herpes simplex virus infection|congenital herpes simplex infection|neonatal HSV infection|neonatal herpes simplex ordo_disease|gard_rare MONDO:0017382 familial clubfoot due to 5q31 microdeletion biolink:Disease mondo Orphanet:293144|ICD10:Q66.8|UMLS:CN203109 ORPHA:293144|UMLS:CN203109 http://purl.obolibrary.org/obo/MONDO_0017382 hereditary clubfoot due to 5q31 microdeletion ordo_etiological_subtype NCBITaxon:431838 Intramacronucleata organism taxon mondo GC_ID:6 http://purl.obolibrary.org/obo/NCBITaxon_431838 MONDO:0017387 epithelioid sarcoma biolink:Disease mondo Orphanet:293202|DOID:6193|NCIT:C3714|UMLS:C0205944|ONCOTREE:EPIS|ICDO:8804/3|MedDRA:10015099|ICD10:C49.9|GARD:0010181 An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). DOID:6193|NCIT:C3714|MEDDRA:10015099|ORPHA:293202|UMLS:C0205944 http://purl.obolibrary.org/obo/MONDO_0017387 epithelioid cell sarcoma|epithelioid sarcoma|ES ordo_disease|gard_rare GO:0032269 negative regulation of cellular protein metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/GO_0032269 downregulation of cellular protein metabolic process|down regulation of cellular protein metabolic process|inhibition of cellular protein metabolic process|down-regulation of cellular protein metabolic process|negative regulation of cellular protein metabolism MONDO:0017388 celiac trunk compression syndrome biolink:Disease mondo UMLS:CN203119|ICD10:I77.4|Orphanet:293208 ORPHA:293208|UMLS:CN203119 http://purl.obolibrary.org/obo/MONDO_0017388 Dunbar syndrome ordo_disease GO:0032268 regulation of cellular protein metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/GO_0032268 regulation of cellular protein metabolism MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria biolink:Disease mondo ICD10:E70.1|Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase. ORPHA:293284 http://purl.obolibrary.org/obo/MONDO_0017389 BH4-responsive HPA/PKU|tetrahydrobiopterin-responsive HPA/PKU|BH4-responsive hyperphenylalaninemia/phenylketonuria ordo_clinical_subtype MONDO:0017383 familial clubfoot due to PITX1 point mutation biolink:Disease mondo ICD10:Q66.8|Orphanet:293150|UMLS:CN203110 ORPHA:293150|UMLS:CN203110 http://purl.obolibrary.org/obo/MONDO_0017383 hereditary clubfoot due to PITX1 point mutation ordo_etiological_subtype MONDO:0017384 acute generalized exanthematous pustulosis biolink:Disease mondo SCTID:702617007|NCIT:C112122|Orphanet:293173|MESH:D056150|ICD9:709.8|MedDRA:10048799|UMLS:C0877055 A widespread acute rash characterized by fever and multiple small pustules on a reddish background. MEDDRA:10048799|UMLS:C0877055|ORPHA:293173|NCIT:C112122|SNOMEDCT:702617007|MESH:D056150 http://purl.obolibrary.org/obo/MONDO_0017384 AGEP|toxic pustuloderma|pustular drug eruption ordo_disease MONDO:0017385 malignant migrating partial seizures of infancy biolink:Disease mondo NCIT:C125387|UMLS:CN203114|UMLS:CN240507|GARD:0012919|Orphanet:293181 A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay. UMLS:CN240507|ORPHA:293181|NCIT:C125387|UMLS:CN203114 http://purl.obolibrary.org/obo/MONDO_0017385 MPEI|MMPSI|MMPEI|migrating Partial seizures in infancy|malignant migrating Partial seizures in infancy|MPSI|migrating partial seizures of infancy|migrating partial epilepsy of infancy|malignant migrating partial epilepsy of infancy ordo_disease MONDO:0017386 pleomorphic rhabdomyosarcoma biolink:Disease mondo Orphanet:293199|ICD10:C49.9|NCIT:C4258|SCTID:404054005|UMLS:C0334480|DOID:3250|ONCOTREE:PLRMS|ICD9:171.9 An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities. DOID:3250|SNOMEDCT:404054005|ORPHA:293199|NCIT:C4258|UMLS:C0334480 http://purl.obolibrary.org/obo/MONDO_0017386 pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma, adult type|anaplastic rhabdomyosarcoma ordo_disease MONDO:0042370 Yersinia enterocolitica infectious disease biolink:Disease mondo SCTID:80960004 SNOMEDCT:80960004 http://purl.obolibrary.org/obo/MONDO_0042370 infection caused by Yersinia enterocolitica|infection by Yersinia enterocolitica MONDO:0017370 autoinflammatory syndrome with skin involvement biolink:Disease mondo UMLS:CN203043|Orphanet:290842 ORPHA:290842|UMLS:CN203043 http://purl.obolibrary.org/obo/MONDO_0017370 ordo_group_of_disorders MONDO:0017371 obsolete rare head and neck tumor biolink:Disease mondo Orphanet:290849 Rare head and neck neoplasia. ORPHA:290849 http://purl.obolibrary.org/obo/MONDO_0017371 rare head and neck neoplasm|rare head and neck neoplasia ordo_group_of_disorders|obsoletion_candidate GO:0032259 methylation biolink:OntologyClass mondo The process in which a methyl group is covalently attached to a molecule. http://purl.obolibrary.org/obo/GO_0032259 MONDO:0005387 primary ovarian failure biolink:Disease mondo NCIT:C113352|SCTID:370999003|ICD9:253.4|DOID:5426|UMLS:C0085215|ICD10:E28.3|ICD9:256.39|EFO:0004266|OMIMPS:311360|SCTID:65846009|MESH:D016649 Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. SNOMEDCT:65846009|MESH:D016649|UMLS:C0085215|DOID:5426|NCIT:C113352|SNOMEDCT:370999003 http://purl.obolibrary.org/obo/MONDO_0005387 primary ovarian failure|premature ovarian insufficiency|hypergonadotrophic ovarian failure|premature ovarian failure|primary ovarian insufficiency|hypergonadotropic hypogonadism (female)|premature menopause|female hypergonadotropic hypogonadism|primary female hypogonadism|hypergonadotropic hypogonadism MONDO:0005386 peripheral arterial disease biolink:Disease mondo NCIT:C84496|DOID:0050830|MESH:D058729|EFO:0004265|ICD9:443.81|SCTID:399957001 A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest. SNOMEDCT:399957001|MESH:D058729|DOID:0050830|NCIT:C84496 http://purl.obolibrary.org/obo/MONDO_0005386 peripheral artery disease|peripheral arterial disorder|pad MONDO:0005389 obsolete sclerosing cholangitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005389 MONDO:0005388 primary biliary cholangitis biolink:Disease mondo NCIT:C27167|SCTID:31712002|Orphanet:186|ICD10:K74.3|GARD:0007459|COHD:4135822|ICD10:K74.5|MESH:D008105|UMLS:C0008312|MedDRA:10019137|MedDRA:10004661|EFO:0004267|DOID:12236|OMIMPS:109720|ICD9:571.6 Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. SNOMEDCT:31712002|UMLS:C0859942|MEDDRA:10019137|ORPHA:186|MESH:D008105|UMLS:C0008312|MEDDRA:10004661|DOID:12236|NCIT:C27167 http://purl.obolibrary.org/obo/MONDO_0005388 biliary cirrhosis, primary|PBC|chronic nonsuppurative destructive cholangitis|cholestatic cirrhosis|primary Bilary cirrhosis (PBC)|familial primary biliary cirrhosis|Hanot syndrome|biliary liver cirrhosis|primary biliary cirrhosis|chronic non-suppurative destructive cholangitis ordo_disease MONDO:0005383 panic disorder biolink:Disease mondo SCTID:371631005|MESH:D016584|DOID:594|EFO:0004262|UMLS:CN240645|NCIT:C34890|ICD9:300.01 An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia. DOID:594|NCIT:C34890|UMLS:CN240645|SNOMEDCT:371631005|MESH:D016584 http://purl.obolibrary.org/obo/MONDO_0005383 panic anxiety syndrome MONDO:0005382 bone Paget disease biolink:Disease mondo DOID:5408|ICD10:M88|EFO:0004261|OMIMPS:167250|UMLS:C0029401|SCTID:2089002|NCIT:C3292 A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue. DOID:5408|UMLS:C0029401|SNOMEDCT:2089002|NCIT:C3292 http://purl.obolibrary.org/obo/MONDO_0005382 Pagets disease (bone)|Paget disease of bone|bone Paget's disease|osteitis deformans|familial Paget's disease of bone|Paget's disease|Paget's disease of bone|Paget's disease of the bone|osseous Paget's disease|Paget's bone disease|bone Paget disease MONDO:0005385 vascular disease biolink:Disease mondo ICD9:442.9|NCIT:C35117|ICD10:I72.9|SCTID:27550009|UMLS:C0042373|EFO:0004264|MESH:D014652|DOID:178 A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. NCIT:C35117|MESH:D014652|DOID:178|UMLS:C0042373|SNOMEDCT:27550009|NCIT:C26693 http://purl.obolibrary.org/obo/MONDO_0005385 vasculature disease|disorder of vasculature|vascular disorder|vascular tissue disease|disease or disorder of vasculature|disease of vasculature|vasculature disease or disorder|disorder of vasculature MONDO:0005384 partial epilepsy biolink:Disease mondo SCTID:230381009|ICD9:345.50|NCIT:C122812|DOID:2234|MESH:D004828|EFO:0004263|UMLS:C0014547 A seizure caused by a localized disorder. MESH:D004828|UMLS:C0014547|NCIT:C122812|SNOMEDCT:230381009|DOID:2234 http://purl.obolibrary.org/obo/MONDO_0005384 focal epilepsy|localisation-related epilepsy|partial epilepsy MONDO:0005381 bone disease biolink:Disease mondo UMLS:CN204768|ICD10:M89.9|MESH:D001847|ICD9:731.8|ICD9:733.99|DOID:0080001|Orphanet:364803|SCTID:76069003|UMLS:C0005940|EFO:0004260 Diseases of bones. DOID:0080001|ORPHA:364803|MESH:D001847|SNOMEDCT:76069003|UMLS:C0005940|UMLS:CN204768 http://purl.obolibrary.org/obo/MONDO_0005381 disorder of bone element|disease or disorder of bone element|disease of bone element|rare bone disease related to a common gene or pathway defect|bone element disease|skeletal disease|bone element disease or disorder|disorder of bone element ordo_group_of_disorders CHEBI:60643 NMDA receptor antagonist biolink:ChemicalSubstance mondo Any substance that inhibits the action of N-methyl-D-aspartate (NMDA) receptors. They tend to induce a state known as dissociative anesthesia, marked by catalepsy, amnesia, and analgesia, while side effects can include hallucinations, nightmares, and confusion. Due to their psychotomimetic effects, many NMDA receptor antagonists are used as recreational drugs. http://purl.obolibrary.org/obo/CHEBI_60643 NMDAR antagonists|NMDAR antagonist|N-methyl-D-aspartate receptor antagonist|NMDA receptor antagonists|N-methyl-D-aspartate receptor antagonists MONDO:0005380 osteonecrosis biolink:Disease mondo SCTID:240196003|ICD9:733.44|DOID:10159|NCIT:C34880|ICD10:M87.9|ICD9:733.43|ICD9:732.3|ICD9:733.42|EFO:0004259|ICD9:733.41|Orphanet:399158|ICD9:733.4|GARD:0012057|ICD10:M87.8|COHD:4344387|MESH:D010020|NCIT:C35476|ICD10:M87.3|ICD9:733.49|ICD10:M87.2|ICD10:M87|DOID:0080008|ICD10:M87.1|ICD10:M87.0 A none disease characterized by death of bone tissue due to a lack of blood supply. DOID:0080008|NCIT:C35476|ORPHA:399158|NCIT:C34880|MESH:D010020|SNOMEDCT:240196003|DOID:10159 http://purl.obolibrary.org/obo/MONDO_0005380 aseptic necrosis|avascular necrosis of bone|bone necrosis|avascular necrosis|ischemic bone disease|osteonecrosis ordo_group_of_disorders MONDO:0017376 reactive arthritis biolink:Disease mondo ICD9:711.30|ICD10:M02.10|EFO:0007460|ICD10:M02.30|ICD10:M02.3|ICD9:099.3|MESH:D016918|DOID:6196|MedDRA:10003267|UMLS:CN203069|NCIT:C128332|ICD10:M02.8|UMLS:C0035012|COHD:78357|SCTID:129133005|Orphanet:29207|ICD9:711.40|MedDRA:10038294|GARD:0005693|UMLS:C0085435|ICD10:M02.1|ICD9:711.3 Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis. ORPHA:29207|MESH:D016918|DOID:6196|UMLS:C0085435|NCIT:C128332|UMLS:C0035012|MEDDRA:10003267|SNOMEDCT:129133005|UMLS:CN203069|MEDDRA:10038294 http://purl.obolibrary.org/obo/MONDO_0017376 Reiter's disease|post-infectious reactive arthropathy|Reiter's syndrome|Reiter disease|post-bacterial arthropathy|Reiter syndrome|Fiessinger-Leroy disease|reactive arthritis|polyarthritis enterica|postdysenteric arthropathy|arthritis urethritica|venereal arthritis|PIRA|post-infectious arthritis|Fiessinger-Leroy-Reiter syndrome|Fiessinger Leroy Reiter syndrome ordo_disease|gard_rare MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome biolink:Disease mondo GARD:0004304|Orphanet:2921|ICD10:Q87.2|MESH:C537888|SCTID:733088002|UMLS:C2931655 Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive. ORPHA:2921|MESH:C537888|SNOMEDCT:733088002|UMLS:C2931655 http://purl.obolibrary.org/obo/MONDO_0017377 short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities|Pfeiffer Mayer syndrome|short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities|Pfeiffer-Mayer syndrome ordo_malformation_syndrome MONDO:0017378 obsolete polymicrogyria-turricephaly-hypogenitalism syndrome biolink:Disease mondo ICD10:Q87.8|UMLS:CN227120|Orphanet:2925 UMLS:CN227120|ORPHA:2925 http://purl.obolibrary.org/obo/MONDO_0017378 MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome biolink:Disease mondo UMLS:CN203094|GARD:0004424|ICD10:Q87.8|Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. UMLS:CN203094|ORPHA:2928 http://purl.obolibrary.org/obo/MONDO_0017379 polyneuropathy intellectual disability acromicria premature menopause|polyneuropathy mental retardation acromicria premature menopause|Lundberg syndrome|polyneuropathy - intellectual deficit - acromicria - premature menopause ordo_malformation_syndrome MONDO:0017372 congenital varicella syndrome biolink:Disease mondo ICD9:771.2|NCIT:C116800|SCTID:277644009|UMLS:C0343560|Orphanet:291|GARD:0000045|ICD10:P35.8 Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection. ORPHA:291|UMLS:C0343560|NCIT:C116800|SNOMEDCT:277644009 http://purl.obolibrary.org/obo/MONDO_0017372 Varicella embryopathy|fetal varicella infection|fetal effects of chickenpox|fetal effects of varicella zoster virus|mother-to-child transmission of varicella syndrome|Varicella virus antenatal infection|antenatal varicella virus infection|fetal varicella zoster syndrome gard_rare|ordo_disease MONDO:0017373 poliomyelitis biolink:Disease mondo Orphanet:2912|ICD10:A80.1|ICD10:A80.0|ICD10:A80|ICD9:045|MedDRA:10036012|COHD:378679|GARD:0007413|ICD9:045.90|SCTID:398102009|DOID:4953|ICD9:045.9|ICD9:045.92|ICD10:A80.9|UMLS:C0032371|MESH:D011051|ICD10:A80.3|ICD10:A80.4|ICD10:A80.2|NCIT:C35550|EFO:0007450 An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. MEDDRA:10036012|NCIT:C35550|ORPHA:2912|MESH:D011051|DOID:4953|SNOMEDCT:398102009|UMLS:C0032371 http://purl.obolibrary.org/obo/MONDO_0017373 Polia|polio|infantile paralysis|acute poliomyelitis|poliomyelitis ordo_disease MONDO:0017374 obsolete polydactyly biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017374 MONDO:0017375 congenital enterovirus infection biolink:Disease mondo SCTID:716865000|Orphanet:292|ICD10:P35.8|UMLS:C4274223 Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn. UMLS:C4274223|SNOMEDCT:716865000|ORPHA:292 http://purl.obolibrary.org/obo/MONDO_0017375 antenatal enterovirus infection|congenital enterovirus infection|congenital enterovirus infectious disease|mother-to-child transmission of enterovirus infection|congenital infection caused by enterovirus ordo_disease MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 biolink:Disease mondo SCTID:237945003|UMLS:CN203025|ICD10:E71.1|Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. SNOMEDCT:237945003|UMLS:CN203025|ORPHA:289916 http://purl.obolibrary.org/obo/MONDO_0017360 complete deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut0 ordo_clinical_subtype MONDO:0005398 upper aerodigestive tract neoplasm biolink:Disease mondo ICD9:239.89|SCTID:439361000|EFO:0004284 Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651) SNOMEDCT:439361000 http://purl.obolibrary.org/obo/MONDO_0005398 MONDO:0005397 goiter (disease) biolink:Disease mondo DOID:12176|MESH:D006042|SCTID:3716002|HP:0000853|COHD:135772|ICD10:E04.9|NCIT:C26785|ICD9:240.9|EFO:0004283 Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. MESH:D006042|DOID:12176|NCIT:C26785|SNOMEDCT:3716002 http://purl.obolibrary.org/obo/MONDO_0005397 goitre|Thyromegaly|goiter MONDO:0005399 venous thromboembolism biolink:Disease mondo UMLS:C1861172|EFO:0004286|NCIT:C99537|MESH:D054556 Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. UMLS:C1861172|MESH:D054556|NCIT:C99537 http://purl.obolibrary.org/obo/MONDO_0005399 venous thromboembolism MONDO:0005394 brain infarction biolink:Disease mondo DOID:3454|UMLS:C0751955|EFO:0004277|MESH:D020520 Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. DOID:3454|UMLS:C0751955|MESH:D020520 http://purl.obolibrary.org/obo/MONDO_0005394 MONDO:0005393 gout biolink:Disease mondo NCIT:C34650|ICD9:274|ICD9:274.0|MESH:D006073|ICD10:M10|COHD:440674|UMLS:C0018099|SCTID:190828008|ICD10:M10.9|EFO:0004274|DOID:13189|UMLS:C0003868|ICD9:274.00|ICD9:274.9 A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. NCIT:C34650|DOID:13189|MESH:D006073|UMLS:C0018099|SNOMEDCT:190828008|UMLS:C0003868 http://purl.obolibrary.org/obo/MONDO_0005393 gout|chronic gout|tophaceous gout|gouty arthropathy|gouty arthritis|tophaceous disease|articular gout MONDO:0005396 thoracic aortic aneurysm biolink:Disease mondo SCTID:433068007|UMLS:C0162872|DOID:14004|EFO:0004282|MESH:D017545 An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. SNOMEDCT:433068007|DOID:14004|UMLS:C0162872|NCIT:C27001|MESH:D017545 http://purl.obolibrary.org/obo/MONDO_0005396 MONDO:0005395 movement disorder biolink:Disease mondo EFO:0004280|MESH:D009069|DOID:480|ICD9:333.99|NCIT:C116757|COHD:372604|SCTID:60342002|ICD9:333.90 Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. MESH:D009069|SNOMEDCT:60342002|DOID:480|NCIT:C116757 http://purl.obolibrary.org/obo/MONDO_0005395 movement disorders|movement disease MONDO:0005390 obsolete cardiac arrhythmia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005390 MONDO:0005392 scoliosis biolink:Disease mondo DOID:0060249|MESH:D012600|HP:0002650|SCTID:298382003|ICD10:M41.9|ICD10:M41|ICD9:737.43|EFO:0004273|NCIT:C78603 A congenital or acquired spinal deformity characterized by lateral curvature of the spine. MESH:D012600|SNOMEDCT:298382003|DOID:0060249|NCIT:C78603 http://purl.obolibrary.org/obo/MONDO_0005392 MONDO:0005391 restless legs syndrome biolink:Disease mondo UMLS:C0035258|NCIT:C84501|OMIMPS:102300|ICD9:333.99|ICD9:333.94|ICD10:G25.81|MESH:D012148|DOID:0050425|EFO:0004270|SCTID:32914008|GARD:0011926 A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs. MESH:D012148|DOID:0050425|UMLS:C0035258|SNOMEDCT:32914008|NCIT:C84501 http://purl.obolibrary.org/obo/MONDO_0005391 Willis-Ekbom disease|WED|Wittmaack-Ekbom syndrome|RLS|restless leg syndrome MONDO:0017369 autoinflammatory syndrome with immune deficiency biolink:Disease mondo UMLS:CN203042|Orphanet:290839 UMLS:CN203042|ORPHA:290839 http://purl.obolibrary.org/obo/MONDO_0017369 ordo_group_of_disorders MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type biolink:Disease mondo ICD10:Q82.8|Orphanet:2907 UMLS:C0406556|ORPHA:2907 http://purl.obolibrary.org/obo/MONDO_0017365 congenital poikiloderma with bullae, Weary type ordo_clinical_subtype HP:0006562 Viral hepatitis biolink:PhenotypicFeature mondo SNOMEDCT_US:3738000|UMLS:C0042721 Inflammation of the liver due to infection with a virus. http://purl.obolibrary.org/obo/HP_0006562 MONDO:0017366 hereditary pheochromocytoma-paraganglioma biolink:Disease mondo UMLS:C1708353|ICD10:D35.6|GARD:0011984|ICD10:C75.5|ICD10:D35.0|Orphanet:29072|ICD10:C74.1 Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas). ORPHA:29072|UMLS:C1708353 http://purl.obolibrary.org/obo/MONDO_0017366 familial pheochromocytoma-paraganglioma|hereditary paraganglioma-pheochromocytoma|SDHx-related paraganglioma-pheochromocytoma ordo_disease|clingen|gard_rare MONDO:0017367 obsolete kindler syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017367 MONDO:0017368 systemic disease with skin involvement biolink:Disease mondo UMLS:CN203041|Orphanet:290836 UMLS:CN203041|ORPHA:290836 http://purl.obolibrary.org/obo/MONDO_0017368 ordo_group_of_disorders MONDO:0017361 congenital rubella syndrome biolink:Disease mondo MESH:D012410|GARD:0004744|COHD:433869|Orphanet:290|ICD10:P35.0|MedDRA:10010618|SCTID:1857005|UMLS:C0035921|ICD9:771.0 Congenital rubella syndrome (CRS) is an infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. SNOMEDCT:1857005|ORPHA:290|MEDDRA:10010618|MESH:D012410|UMLS:C0035921 http://purl.obolibrary.org/obo/MONDO_0017361 CRS|fetal rubella syndrome|Rubella congenital|mother-to-child transmission of rubella syndrome ordo_disease MONDO:0017362 neuralgic amyotrophy biolink:Disease mondo Orphanet:2901|ICD10:G54.5|COHD:377271|MedDRA:10063020 Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. MEDDRA:10063020|ORPHA:2901|UMLS:C0221759 http://purl.obolibrary.org/obo/MONDO_0017362 mononeuritis multiplex with brachial predilection|brachial plexus neuritis|immune brachial plexus neuropathy|acute brachial plexus neuritis|neuralgic shoulder amyotrophy ordo_disease MONDO:0017363 idiopathic chronic eosinophilic pneumonia biolink:Disease mondo Orphanet:2902|MESH:C535590|ICD10:J82|GARD:0001130 Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss). ORPHA:2902|MESH:C535590 http://purl.obolibrary.org/obo/MONDO_0017363 chronic eosinophilic pneumonia (CEP)|Carrington's disease|Carrington's pulmonary eosinophilia|eosinophilic idiopathic chronic pneumopathy|Carrington syndrome|chronic idiopathic eosinophilic pneumonia|chronic eosinophilic pneumonia gard_rare|ordo_disease MONDO:0017364 POEMS syndrome biolink:Disease mondo MESH:D016878|SCTID:79268002|EFO:1001115|DOID:14039|UMLS:C0085404|ICD10:D47.7|MedDRA:10053869|GARD:0007411|NCIT:C80303|Orphanet:2905 POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. MESH:D016878|UMLS:C0085404|ORPHA:2905|MEDDRA:10053869|DOID:14039|NCIT:C80303|SNOMEDCT:79268002|UMLS:C1510415 http://purl.obolibrary.org/obo/MONDO_0017364 Crow-Fukase syndrome|polyneuropathy organomegaly|polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome|Takatsuki syndrome|POEMS syndrome|osteosclerotic myeloma|polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome|PEP syndrome ordo_disease HP:0006561 Lipid accumulation in hepatocytes biolink:PhenotypicFeature mondo UMLS:C1837257 http://purl.obolibrary.org/obo/HP_0006561 HGNC:799 ATP1A1 biolink:OntologyClass mondo http://identifiers.org/hgnc/799 HGNC:795 ATM biolink:OntologyClass mondo http://identifiers.org/hgnc/795 HGNC:794 ATIC biolink:OntologyClass mondo http://identifiers.org/hgnc/794 MONDO:0044972 eosinophil disease biolink:Disease mondo SCTID:417967008|UMLS:C1691020 A disease or disorder that involves the eosinophil. UMLS:C1691020|SNOMEDCT:417967008 http://purl.obolibrary.org/obo/MONDO_0044972 disorder of eosinophil|disorder of eosinophil|disease or disorder of eosinophil|disease of eosinophil|eosinophil disease or disorder HGNC:791 ATF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/791 MONDO:0044975 disease of transporter activity biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044975 MONDO:0044974 disease of supramolecular complex biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044974 GO:0007276 gamete generation biolink:OntologyClass mondo The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. http://purl.obolibrary.org/obo/GO_0007276 gametogenesis GO:0007275 multicellular organism development biolink:OntologyClass mondo The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/GO_0007275 GO:0007274 neuromuscular synaptic transmission biolink:OntologyClass mondo The process of synaptic transmission from a neuron to a muscle, across a synapse. http://purl.obolibrary.org/obo/GO_0007274 MONDO:0044971 disease of macromolecular complex biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044971 MONDO:0044970 mitochondrial disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044970 GO:0007283 spermatogenesis biolink:OntologyClass mondo The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. http://purl.obolibrary.org/obo/GO_0007283 generation of spermatozoa MONDO:0044969 disease of membrane bound organelle biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044969 NCBITaxon:2172821 Multicrustacea organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_2172821 GO:0007281 germ cell development biolink:OntologyClass mondo The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. http://purl.obolibrary.org/obo/GO_0007281 primordial germ cell development|germ-cell development MONDO:0044965 abdominal and pelvic region disorder biolink:Disease mondo SCTID:609618002|UMLS:C3661988 A disease or disorder that involves the abdominal segment of trunk. UMLS:C3661988|SNOMEDCT:609618002 http://purl.obolibrary.org/obo/MONDO_0044965 disease of abdominal segment of trunk|abdominal segment of trunk disease|abdominal segment of trunk disease or disorder|disorder of abdominal segment of trunk|disorder of abdominal segment of trunk|disease or disorder of abdominal segment of trunk MONDO:0044967 limb disorder biolink:Disease mondo ICD9:V49.1|UMLS:C1290877|SCTID:128605003 A disease or disorder that involves the limb. UMLS:C1290877|SNOMEDCT:128605003 http://purl.obolibrary.org/obo/MONDO_0044967 disease or disorder of limb|disorder of limb|disease of limb|limb disease|disorder of extremity|limb disease or disorder|disorder of limb MONDO:0044984 nasolacrimal duct disease biolink:Disease mondo SCTID:95767006|UMLS:C0521744 A disease or disorder that involves the nasolacrimal duct. UMLS:C0521744|SNOMEDCT:95767006 http://purl.obolibrary.org/obo/MONDO_0044984 disorder of nasolacrimal duct|disorder of nasolacrimal duct|disease or disorder of nasolacrimal duct|nasolacrimal duct disease or disorder|nasolacrimal duct disease|disease of nasolacrimal duct MONDO:0044983 benign lipomatous neoplasm biolink:Disease mondo NCIT:C4502 A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. NCIT:C4502 http://purl.obolibrary.org/obo/MONDO_0044983 benign tumor of adipose tissue|benign tumor of the adipose tissue|benign neoplasm of adipose tissue|benign adipose tissue tumor|benign neoplasm of the adipose tissue|adipose tissue benign connective and soft tissue neoplasm|benign lipomatous tumor|benign lipomatous neoplasm|benign adipose tissue neoplasm|benign connective and soft tissue neoplasm of adipose tissue MONDO:0044986 lymphoid system disease biolink:Disease mondo SCTID:111590001 A disease or disorder that involves the lymphoid system. SNOMEDCT:111590001 http://purl.obolibrary.org/obo/MONDO_0044986 disorder of lymphoid system|disorder of lymphoid system|disease or disorder of lymphoid system|lymphoid system disease or disorder|lymphoid system disease|disease of lymphoid system GO:0007289 spermatid nucleus differentiation biolink:OntologyClass mondo The specialization of the spermatid nucleus during the development of a spermatid into a mature male gamete competent for fertilization. http://purl.obolibrary.org/obo/GO_0007289 spermatid nuclear differentiation GO:0007288 sperm axoneme assembly biolink:OntologyClass mondo The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement. http://purl.obolibrary.org/obo/GO_0007288 MONDO:0044980 disease of signal transduction biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044980 GO:0007286 spermatid development biolink:OntologyClass mondo The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0007286 spermatid cell development|spermiogenesis MONDO:0044982 drug pseudoallergy biolink:Disease mondo UMLS:C3662272|SCTID:609398007 UMLS:C3662272|SNOMEDCT:609398007 http://purl.obolibrary.org/obo/MONDO_0044982 drug pseudoallergy|drug allergy MONDO:0044981 pseudoallergy biolink:Disease mondo SCTID:609397002|ICD9:V15.09|UMLS:C3662273 UMLS:C3662273|SNOMEDCT:609397002 http://purl.obolibrary.org/obo/MONDO_0044981 pseudoallergy to substance MONDO:0044977 disease of receptor activity biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044977 MONDO:0044976 disease of catalytic activity biolink:Disease mondo UMLS:C0520572|SCTID:78548001 UMLS:C0520572|SNOMEDCT:78548001 http://purl.obolibrary.org/obo/MONDO_0044976 enzyme disorder|enzymopathy MONDO:0044979 disease by cell type biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044979 metaclass MONDO:0044978 disease of cell nucleus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044978 HGNC:779 ATCAY biolink:OntologyClass mondo http://identifiers.org/hgnc/779 GO:0022890 inorganic cation transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0022890 di-, tri-valent inorganic cation transmembrane transporter activity HGNC:777 ZFHX3 biolink:OntologyClass mondo http://identifiers.org/hgnc/777 GO:0032218 riboflavin transport biolink:OntologyClass mondo The directed movement of riboflavin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. http://purl.obolibrary.org/obo/GO_0032218 HGNC:775 SERPINC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/775 GO:0032217 riboflavin transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. http://purl.obolibrary.org/obo/GO_0032217 riboflavin transporter activity MONDO:0044995 parasympathetic nervous system disease biolink:Disease mondo SCTID:46091002 A disease or disorder that involves the parasympathetic nervous system. SNOMEDCT:46091002 http://purl.obolibrary.org/obo/MONDO_0044995 disease of parasympathetic nervous system|disorder of parasympathetic nervous system|disorder of parasympathetic nervous system|disease or disorder of parasympathetic nervous system|parasympathetic nervous system disease or disorder|parasympathetic nervous system disease MONDO:0044997 midbrain disease biolink:Disease mondo SCTID:95641009|UMLS:C0521655 A disease or disorder that involves the midbrain. SNOMEDCT:95641009|UMLS:C0521655 http://purl.obolibrary.org/obo/MONDO_0044997 disease of midbrain|disorder of midbrain|disorder of midbrain|disease or disorder of midbrain|midbrain disease or disorder|midbrain disease MONDO:0044996 cerebral cortex disease biolink:Disease mondo UMLS:C1263847|SCTID:128128003 A disease or disorder that involves the cerebral cortex. SNOMEDCT:128128003|UMLS:C1263847 http://purl.obolibrary.org/obo/MONDO_0044996 disease or disorder of cerebral cortex|cerebral cortex disease or disorder|cerebral cortex disease|disease of cerebral cortex|disorder of cerebral cortex|disorder of cerebral cortex MONDO:0044991 upper digestive tract disease biolink:Disease mondo SCTID:119291004 A disease or disorder that involves the upper digestive tract. SNOMEDCT:119291004 http://purl.obolibrary.org/obo/MONDO_0044991 upper gastrointestinal tract disease|disorder of upper gastrointestinal tract|disorder of upper digestive tract|disorder of upper digestive tract|disease or disorder of upper digestive tract|upper digestive tract disease or disorder|disease of upper digestive tract MONDO:0044990 hand disease biolink:Disease mondo UMLS:C1290871|SCTID:118933004 A disease or disorder that involves the manus. UMLS:C1290871|SNOMEDCT:118933004 http://purl.obolibrary.org/obo/MONDO_0044990 hand disease|disorder of manus|disorder of manus|disorder of hand|disease or disorder of manus|manus disease or disorder|manus disease|disease of manus MONDO:0044993 sympathetic nervous system disease biolink:Disease mondo SCTID:50330009 A disease or disorder that involves the sympathetic nervous system. SNOMEDCT:50330009 http://purl.obolibrary.org/obo/MONDO_0044993 disease of sympathetic nervous system|disease or disorder of sympathetic nervous system|disorder of sympathetic nervous system|disorder of sympathetic nervous system|sympathetic nervous system disease or disorder|sympathetic nervous system disease MONDO:0044992 mouth mucosa disease biolink:Disease mondo SCTID:128046007|UMLS:C1290071 A disease or disorder that involves the mouth mucosa. UMLS:C1290071|SNOMEDCT:128046007 http://purl.obolibrary.org/obo/MONDO_0044992 disease of mouth mucosa|disorder of mouth mucosa|disease or disorder of mouth mucosa|disorder of mouth mucosa|oral mucous membrane disease|disorder of oral mucous membrane|mouth mucosa disease or disorder MONDO:0044988 hip region disease biolink:Disease mondo SCTID:118935006|UMLS:C1290862 A disease or disorder that involves the hip. SNOMEDCT:118935006|UMLS:C1290862 http://purl.obolibrary.org/obo/MONDO_0044988 disease of hip|disorder of hip|disorder of hip|disorder of hip region|disease or disorder of hip|hip disease|hip disease or disorder MONDO:0044987 face disease biolink:Disease mondo SCTID:118930001|UMLS:C1290857 A disease or disorder that involves the face. SNOMEDCT:118930001|UMLS:C1290857 http://purl.obolibrary.org/obo/MONDO_0044987 disease of face|disorder of face|disorder of face|disease or disorder of face|face disease or disorder|face disease MONDO:0044989 foot disease biolink:Disease mondo MESH:D005534|UMLS:C0016510|SCTID:118932009 A disease or disorder that involves the pes. SNOMEDCT:118932009|MESH:D005534|UMLS:C0016510 http://purl.obolibrary.org/obo/MONDO_0044989 disorder of pes|disorder of pes|disease or disorder of pes|pes disease or disorder|foot disease|pes disease|disease of pes|disorder of foot GO:0019239 deaminase activity biolink:OntologyClass mondo Catalysis of the removal of an amino group from a substrate, producing ammonia (NH3). http://purl.obolibrary.org/obo/GO_0019239 GO:0022898 regulation of transmembrane transporter activity biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of transmembrane transporter activity. http://purl.obolibrary.org/obo/GO_0022898 GO:0019232 perception of rate of movement biolink:OntologyClass mondo The series of events by which an organism senses the speed and direction of movement of the body and its parts. http://purl.obolibrary.org/obo/GO_0019232 kinesthesia GO:0019233 sensory perception of pain biolink:OntologyClass mondo The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. http://purl.obolibrary.org/obo/GO_0019233 nociception|perception of physiological pain GO:0019230 proprioception biolink:OntologyClass mondo The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors. http://purl.obolibrary.org/obo/GO_0019230 GO:0007268 chemical synaptic transmission biolink:OntologyClass mondo The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. http://purl.obolibrary.org/obo/GO_0007268 synaptic transmission|signal transmission across a synapse|neurotransmission GO:0007267 cell-cell signaling biolink:OntologyClass mondo Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. http://purl.obolibrary.org/obo/GO_0007267 cell-cell signalling GO:0007265 Ras protein signal transduction biolink:OntologyClass mondo A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. http://purl.obolibrary.org/obo/GO_0007265 Ras mediated signal transduction GO:0007264 small GTPase mediated signal transduction biolink:OntologyClass mondo Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. http://purl.obolibrary.org/obo/GO_0007264 small GTPase-mediated signal transduction GO:0007272 ensheathment of neurons biolink:OntologyClass mondo The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment. http://purl.obolibrary.org/obo/GO_0007272 ionic insulation of neurons by glial cells MONDO:0044999 scalp disease biolink:Disease mondo UMLS:C0406629|SCTID:238922006 A disease or disorder that involves the scalp. UMLS:C0406629|SNOMEDCT:238922006 http://purl.obolibrary.org/obo/MONDO_0044999 scalp disease or disorder|scalp disease|disease of scalp|disorder of scalp|disorder of scalp|disease or disorder of scalp MONDO:0044998 carpal region disease biolink:Disease mondo UMLS:C1290872|SCTID:128130001 A disease or disorder that involves the carpal region. SNOMEDCT:128130001|UMLS:C1290872 http://purl.obolibrary.org/obo/MONDO_0044998 wrist region disease|disorder of wrist region|disorder of carpal region|disorder of carpal region|disease or disorder of carpal region|carpal region disease or disorder|disease of carpal region GO:0046835 carbohydrate phosphorylation biolink:OntologyClass mondo The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/GO_0046835 MONDO:0005449 conduction system disorder biolink:Disease mondo EFO:0005137 A disease involving the conducting system of heart. http://purl.obolibrary.org/obo/MONDO_0005449 disorder of conducting system of heart|disorder of conducting system of heart|disease or disorder of conducting system of heart|conducting system of heart disease|disease of conducting system of heart|conducting system of heart disease or disorder MONDO:0005446 cutaneous leishmaniasis biolink:Disease mondo NCIT:C34770|EFO:0005046|MESH:D016773|ICD10:B55.1|UMLS:C0023283|SCTID:186807008|DOID:9111|ICD9:085.2 Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas. SNOMEDCT:186807008|NCIT:C34770|UMLS:C0023283|DOID:9111|MESH:D016773 http://purl.obolibrary.org/obo/MONDO_0005446 Asian desert cutaneous leishmaniasis|zone of skin leishmaniasis|leproid leishmaniasis|diffuse cutaneous leishmaniasis MONDO:0005445 visceral leishmaniasis biolink:Disease mondo SCTID:186803007|NCIT:C34771|MESH:D007898|COHD:200652|ICD9:085.0|UMLS:C0023290|ICD10:B55.0|EFO:0005045|OMIMPS:608207|DOID:9146 A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi. NCIT:C34771|UMLS:C0023290|MESH:D007898|DOID:9146|SNOMEDCT:186803007 http://purl.obolibrary.org/obo/MONDO_0005445 kala-azar|kala-azar, susceptibility to|kala-azar susceptibility|infection by visceral leishmaniasis|viscus leishmaniasis MONDO:0005448 hepatitis C induced liver cirrhosis biolink:Disease mondo EFO:0005129 Liver injury resulting from hepatitis C infection. http://purl.obolibrary.org/obo/MONDO_0005448 MONDO:0005447 testicular cancer biolink:Disease mondo NCIT:C7251|DOID:2998|MESH:D013736|ICD10:C62.9|ICD10:C62.90|GARD:0007746|ICD9:186|ICD9:186.9|EFO:0005088|SCTID:363449006|ICD10:C62 A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma. SNOMEDCT:363449006|MESH:D013736|NCIT:C7251|DOID:2998 http://purl.obolibrary.org/obo/MONDO_0005447 malignant testicular neoplasm|malignant tumor of the testis|malignant testis neoplasm|pediatric testicular neoplasm|childhood neoplasm of the testis|malignant neoplasm of testis|testicular tumor|cancer of testis|malignant neoplasm of the testis|testis cancer|testis neoplasm|malignant testicular tumor|malignant tumor of testis|neoplasm of testis MONDO:0005442 type 1 diabetes nephropathy biolink:Disease mondo EFO:0004996 Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy. http://purl.obolibrary.org/obo/MONDO_0005442 MONDO:0005441 otitis media (disease) biolink:Disease mondo ICD10:H66.9|ICD9:382.9|DOID:10754|ICD10:H66.90|EFO:0004992|SCTID:65363002|HP:0000388|NCIT:C34885|MESH:D010033|COHD:372328|UMLS:C0029882 Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. NCIT:C34885|MESH:D010033|UMLS:C0029882|SNOMEDCT:65363002|DOID:10754 http://purl.obolibrary.org/obo/MONDO_0005441 middle Ear Inflammation|medial otitis|middle ear inflammation|otitis Media|inflammation of middle ear MONDO:0005444 obsolete leishmaniasis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005444 MONDO:0005443 type 2 diabetes nephropathy biolink:Disease mondo EFO:0004997 Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking. http://purl.obolibrary.org/obo/MONDO_0005443 MONDO:0005440 embryonal carcinoma biolink:Disease mondo ONCOTREE:EMBCA|ICDO:9070/3|EFO:0004986|MESH:D018236|DOID:3308|ICD10:C22.7|Orphanet:180226|ICD10:C71.9|UMLS:C0206659|NCIT:C3752|GARD:0005140 A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum). ORPHA:180226|UMLS:C0206659|DOID:3308|MESH:D018236|NCIT:C3752 http://purl.obolibrary.org/obo/MONDO_0005440 carcinoma, embryonal, malignant|embryonal carcinoma|primary extragonadal embryonal carcinoma gard_rare|ordo_disease UBERON:0002085 interatrial septum biolink:AnatomicalEntity mondo A cardiac septum that divides the left and right atria of the heart. http://purl.obolibrary.org/obo/UBERON_0002085 atrium septum|interatrial septal wall|atrial septum MONDO:0017439 tetra-amelia biolink:Disease mondo Orphanet:294971|GARD:0005148|ICD10:Q73.0|MESH:C536498|HP:0003057|SCTID:702313004 SNOMEDCT:702313004|MESH:C536498|ORPHA:294971 http://purl.obolibrary.org/obo/MONDO_0017439 tetra-amelia, autosomal recessive|total amelia|Tetraamelia, autosomal recessive|tetra-amelia syndrome ordo_morphological_anomaly UBERON:0002084 heart left ventricle biolink:AnatomicalEntity mondo A cardiac ventricle that is in the left side of the heart. http://purl.obolibrary.org/obo/UBERON_0002084 left ventricle|left ventricle of heart|left cardiac ventricle|ventriculus sinister cordis|cardiac left ventricle MONDO:0017435 popliteal pterygium syndrome biolink:Disease mondo NCIT:C118786|MESH:C562509|ICD9:756.89|DOID:0060055|SCTID:66783006|Orphanet:294963|UMLS:C0265259 A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora. SNOMEDCT:66783006|NCIT:C118786|UMLS:C0265259|DOID:0060055|ORPHA:294963|MESH:C562509 http://purl.obolibrary.org/obo/MONDO_0017435 PPS|facio-genito-popliteal syndrome|popliteal web syndrome ordo_group_of_disorders UBERON:0002081 cardiac atrium biolink:AnatomicalEntity mondo Cardiac chamber in which blood enters the heart. http://purl.obolibrary.org/obo/UBERON_0002081 atria|cardiac atria|atrium|heart atrium|atrial tissue|atrium of heart UBERON:0002080 heart right ventricle biolink:AnatomicalEntity mondo A cardiac ventricle that is in the right side of the heart. http://purl.obolibrary.org/obo/UBERON_0002080 ventriculus dexter|cardiac right ventricle|right cardiac ventricle|right ventricle of heart|right ventricle MONDO:0017436 lethal congenital contracture syndrome biolink:Disease mondo Orphanet:294965|ICD10:Q68.8|OMIMPS:253310|UMLS:CN239241|GARD:0012643|DOID:0060558 A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. DOID:0060558|ORPHA:294965|UMLS:CN239241 http://purl.obolibrary.org/obo/MONDO_0017436 LCCS ordo_group_of_disorders MONDO:0017437 amelia of upper limb biolink:Disease mondo SCTID:205306000|ICD10:Q71.0|Orphanet:294967|HP:0009812 A non-syndromic amelia that involves the forelimb. ORPHA:294967|SNOMEDCT:205306000 http://purl.obolibrary.org/obo/MONDO_0017437 forelimb non-syndromic amelia|non-syndromic amelia of forelimb ordo_morphological_anomaly MONDO:0017438 amelia of lower limb biolink:Disease mondo HP:0009818|Orphanet:294969|SCTID:265798000|ICD10:Q72.0 A non-syndromic amelia that involves the hindlimb. SNOMEDCT:265798000|ORPHA:294969 http://purl.obolibrary.org/obo/MONDO_0017438 hindlimb non-syndromic amelia|non-syndromic amelia of hindlimb ordo_morphological_anomaly UBERON:0002082 cardiac ventricle biolink:AnatomicalEntity mondo Cardiac chamber through which blood leaves the heart. http://purl.obolibrary.org/obo/UBERON_0002082 heart ventricle|ventricle|lower chamber of heart|ventricle of heart MONDO:0017431 non-syndromic limb overgrowth biolink:Disease mondo Orphanet:294953 ORPHA:294953 http://purl.obolibrary.org/obo/MONDO_0017431 limb overgrowth ordo_group_of_disorders MONDO:0017432 syndrome with limb reduction defects biolink:Disease mondo Orphanet:294955|UMLS:CN203180 ORPHA:294955|UMLS:CN203180 http://purl.obolibrary.org/obo/MONDO_0017432 ordo_group_of_disorders MONDO:0017433 dysostosis with combined reduction defects of upper and lower limbs biolink:Disease mondo Orphanet:294957 ORPHA:294957 http://purl.obolibrary.org/obo/MONDO_0017433 ordo_group_of_disorders MONDO:0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy biolink:Disease mondo Orphanet:294959|UMLS:CN203181 ORPHA:294959|UMLS:CN203181 http://purl.obolibrary.org/obo/MONDO_0017434 ordo_group_of_disorders NCBITaxon:32443 Teleostei organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_32443 teleost fishes MONDO:0017430 non-syndromic congenital joint dislocations biolink:Disease mondo Orphanet:294951 ORPHA:294951 http://purl.obolibrary.org/obo/MONDO_0017430 congenital joint dislocations ordo_group_of_disorders MONDO:0005457 obsolete acute stress reaction biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005457 MONDO:0005456 obsolete avian influenza biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005456 NCBITaxon:44417 Cyclospora organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_44417 MONDO:0005459 human African trypanosomiasis biolink:Disease mondo NCIT:C84541|ICD9:086.5|MedDRA:10001461|GARD:0007826|ICD10:B56|EFO:0005225|UMLS:C0041228|DOID:10112|SCTID:27031003|Orphanet:3385|ICD10:B56.1|ICD10:B56.9|MESH:D014353|KEGG:05143|ICD10:B56.0 A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death. SNOMEDCT:27031003|UMLS:C0041228|DOID:10112|NCIT:C84541|MEDDRA:10001461|ORPHA:3385|MESH:D014353 http://purl.obolibrary.org/obo/MONDO_0005459 African sleeping sickness|Africam sleeping sickness|African trypanosomiasis|sleeping sickness ordo_disease MONDO:0005458 obsolete q fever biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005458 MONDO:0005453 congenital heart disease biolink:Disease mondo COHD:312723|MESH:D006330|UMLS:CN169364|ICD9:746.89|ICD9:746.9|ICD10:Q24.9|SCTID:13213009|ICD9:746.84|NCIT:C95834|DOID:1682|EFO:0005207 A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. SNOMEDCT:13213009|MESH:D006330|UMLS:CN169364|DOID:1682|NCIT:C95834 http://purl.obolibrary.org/obo/MONDO_0005453 heart-congenital defect|heart, malformation Of|heart defect, congenital|heart defect|defects, congenital heart|congenital heart defects|defect, congenital heart|abnormalities, heart|Abnormality, heart|heart abnormality|heart abnormalities|heart malformation|congenital anomaly of heart|congenital heart defect MONDO:0005452 bulimia nervosa biolink:Disease mondo MESH:D052018|EFO:0005204|COHD:438407|ICD9:307.51|SCTID:78004001|NCIT:C34440|DOID:12129|ICD10:F50.2 A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image. SNOMEDCT:78004001|MESH:D052018|DOID:12129|NCIT:C34440 http://purl.obolibrary.org/obo/MONDO_0005452 hyperorexia nervosa|bulimia MONDO:0005455 obsolete cholangiocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005455 MONDO:0005454 lung neuroendocrine neoplasm biolink:Disease mondo NCIT:C5670|ONCOTREE:LNET|DOID:5410|EFO:0005220|ICD9:209.61|SCTID:707594002|UMLS:C1334452 A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma. SNOMEDCT:707594002|NCIT:C5670|UMLS:C1334452|DOID:5410 http://purl.obolibrary.org/obo/MONDO_0005454 lung neuroendocrine neoplasm|neuroendocrine neoplasm of the lung|lung neuroendocrine tumor|pulmonary neuroendocrine tumor|pulmonary neuroendocrine neoplasm|lung NET|neuroendocrine neoplasm of lung|lung neuroendocrine tumor, well differentiated, low or intermediate grade|lung neuroendocrine tumor MONDO:0005451 eating disorder biolink:Disease mondo ICD9:307.59|EFO:0005203|NCIT:C89332|DOID:8670|ICD10:F50|ICD9:307.50|COHD:439002|ICD10:F50.9|SCTID:72366004 A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake. SNOMEDCT:72366004|DOID:8670|NCIT:C89332 http://purl.obolibrary.org/obo/MONDO_0005451 eating disorder MONDO:0005450 obsolete autoimmune disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005450 HP:0006504 obsolete Anomaly of the limb diaphyses morphology biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0006504 Abnormality of shaft of long bone of the limbs MONDO:0017428 congenital deformities of fingers biolink:Disease mondo Orphanet:294947|ICD10:Q68.1 ORPHA:294947 http://purl.obolibrary.org/obo/MONDO_0017428 ordo_group_of_disorders UBERON:0002074 hair shaft biolink:AnatomicalEntity mondo The main part of the hair which is composed of trichocytes and is divided into the cortex and medulla. http://purl.obolibrary.org/obo/UBERON_0002074 shaft of hair|scapus pili MONDO:0017429 joint formation defects biolink:Disease mondo Orphanet:294949 ORPHA:294949 http://purl.obolibrary.org/obo/MONDO_0017429 ordo_group_of_disorders UBERON:0002073 hair follicle biolink:AnatomicalEntity mondo A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. http://purl.obolibrary.org/obo/UBERON_0002073 folliculus pili UBERON:0002076 cuticle of hair biolink:AnatomicalEntity mondo smooth and glossy outer protective cell layer of hair shaft http://purl.obolibrary.org/obo/UBERON_0002076 hair cuticle UBERON:0002075 viscus biolink:AnatomicalEntity mondo An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. http://purl.obolibrary.org/obo/UBERON_0002075 Organsystem@de|viscera|visceral organ|splanchnic tissue|visceral tissue|visceral organ system MONDO:0017424 non-syndromic brachydactyly biolink:Disease mondo SCTID:43476002|Orphanet:294937 UMLS:C0221357|SNOMEDCT:43476002|ORPHA:294937 http://purl.obolibrary.org/obo/MONDO_0017424 isolated brachydactyly|nonsyndromic brachydactyly|brachydactyly ordo_group_of_disorders MONDO:0017425 preaxial polydactyly of fingers biolink:Disease mondo GARD:0012767|Orphanet:294939|DC:0000362|ICD10:Q69.1|OMIMPS:174400 Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity. ORPHA:294939 http://purl.obolibrary.org/obo/MONDO_0017425 preaxial polydactyly of hand ordo_group_of_disorders|gard_rare UBERON:0002072 hypodermis biolink:AnatomicalEntity mondo Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. http://purl.obolibrary.org/obo/UBERON_0002072 hypoderm|sub-tegumental tissue|subcutaneous tissue|subtegumental tissue|vertebrate hypodermis|subcutis|tela subcutanea|superficial fascia MONDO:0017426 postaxial polydactyly of fingers biolink:Disease mondo ICD10:Q69.0|SCTID:205131007|GARD:0012460|Orphanet:294942 SNOMEDCT:205131007|ORPHA:294942 http://purl.obolibrary.org/obo/MONDO_0017426 postaxial polydactyly of hand ordo_group_of_disorders MONDO:0017427 congenital deformities of limbs biolink:Disease mondo MedDRA:10024500|Orphanet:294944 MEDDRA:10024500|UMLS:C0206762|ORPHA:294944 http://purl.obolibrary.org/obo/MONDO_0017427 ordo_group_of_disorders MONDO:0017420 intercalary limb defects biolink:Disease mondo Orphanet:294927 ORPHA:294927 http://purl.obolibrary.org/obo/MONDO_0017420 intercalary meromelia ordo_group_of_disorders MONDO:0017421 non-syndromic terminal limb defects biolink:Disease mondo Orphanet:294929 ORPHA:294929 http://purl.obolibrary.org/obo/MONDO_0017421 isolated terminal limb defects|terminal meromelia|nonsyndromic terminal limb defects|terminal limb defects ordo_group_of_disorders MONDO:0017422 adactyly of hand biolink:Disease mondo ICD10:Q71.3|Orphanet:294931 ORPHA:294931 http://purl.obolibrary.org/obo/MONDO_0017422 fingers absent ordo_group_of_disorders MONDO:0017423 split hand or/and split foot malformation biolink:Disease mondo ICD10:Q72.7|Orphanet:294935|ICD10:Q71.6 ORPHA:294935 http://purl.obolibrary.org/obo/MONDO_0017423 ordo_group_of_disorders UBERON:0002078 right cardiac atrium biolink:AnatomicalEntity mondo A cardiac atrium that is in the left side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. http://purl.obolibrary.org/obo/UBERON_0002078 cardiac right atrium|right cardiac atrium|atrium dextrum|right atrium of heart|right atrium|heart right atrium UBERON:0002077 cortex of hair biolink:AnatomicalEntity mondo A cortex that is part of a hair [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002077 coat/hair cortex|hair cortex|coat hair cortex|cortex of coat hair|cortex of coat/hair UBERON:0002079 left cardiac atrium biolink:AnatomicalEntity mondo A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve. http://purl.obolibrary.org/obo/UBERON_0002079 left cardiac atrium|left atrium|atrium sinistrum|cardiac left atrium|left atrium of heart|heart left atrium MONDO:0005428 obsolete pemphigus vulgaris biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005428 MONDO:0005427 obsolete vasuclar dementia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005427 MONDO:0005429 prion disease biolink:Disease mondo DOID:649|NCIT:C128346|EFO:0004720|ICD10:A81.9|MESH:D017096|SCTID:230284004|ICD9:046.19|KEGG:05020 A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. DOID:649|NCIT:C128346|SNOMEDCT:230284004|MESH:D017096 http://purl.obolibrary.org/obo/MONDO_0005429 prion disease pathway|prion induced disorder|spongiform encephalopathy|prion protein disease|transmissible spongiform encephalopathy MONDO:0005424 elephantiasis biolink:Disease mondo EFO:0004711|MESH:D004604|UMLS:C0013882|DOID:4976 Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph. NCIT:C34569|UMLS:C0013882|DOID:4976|MESH:D004604 http://purl.obolibrary.org/obo/MONDO_0005424 elephantiasis NOS MONDO:0005423 obsolete pelvic organ prolapse biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005423 MONDO:0005426 MRI defined brain infarct biolink:Disease mondo EFO:0004715 An infarct detected by MRI and not determined to be clinically significant http://purl.obolibrary.org/obo/MONDO_0005426 MONDO:0005425 podoconiosis biolink:Disease mondo SCTID:47595008|EFO:0004712|ICD9:457.1|DOID:0050138 A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils. SNOMEDCT:47595008|DOID:0050138 http://purl.obolibrary.org/obo/MONDO_0005425 nonfilarial elephantiasis|soil elephantiasis|non-filarial elephantiasis|elephantiasis from soil MONDO:0005420 hypothyroidism biolink:Disease mondo COHD:140673|EFO:0004705|DOID:1459|ICD9:244.9|NCIT:C26800|SCTID:40930008|ICD10:E03.9|MESH:D007037 Abnormally low levels of thyroid hormone. MESH:D007037|DOID:1459|SNOMEDCT:40930008|NCIT:C26800 http://purl.obolibrary.org/obo/MONDO_0005420 thyroid deficiency|underactive thyroid|thyroid insufficiency|hypothyroid|hypothyroidism MONDO:0005422 obsolete nodular sclerosis Hodgkin lymphoma biolink:Disease mondo A distinct, highly heritable Hodgkin lymphoma subtype. http://purl.obolibrary.org/obo/MONDO_0005422 HGNC:27561 TSEN54 biolink:OntologyClass mondo http://identifiers.org/hgnc/27561 MONDO:0005421 obsolete infantile hypertrophic pyloric stenosis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005421 MONDO:0017417 renal-hepatic-pancreatic dysplasia biolink:Disease mondo UMLS:C2673883|DOID:0060259|Orphanet:294415|OMIMPS:208540|SCTID:763891005 Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. SNOMEDCT:763891005|ORPHA:294415|DOID:0060259|UMLS:C2673883 http://purl.obolibrary.org/obo/MONDO_0017417 Renohepaticopancreatic dysplasia|Ivemark's syndrome|Ivemark II syndrome ordo_malformation_syndrome UBERON:0002063 sinus venosus biolink:AnatomicalEntity mondo The sinus venosus is a large cardiac chamber at the inflow tract that receives venous blood from systemic circulation. precedes the atrium on the venous side of the chordate heart. http://purl.obolibrary.org/obo/UBERON_0002063 sinus venosus cordis|inflow tract|venosus|sinus venarum|venarum sinus|venarum MONDO:0017418 chronic intestinal failure biolink:Disease mondo SCTID:716665002|UMLS:C4274352|Orphanet:294422|UMLS:CN203168 Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease). UMLS:CN203168|UMLS:C4274352|SNOMEDCT:716665002|ORPHA:294422 http://purl.obolibrary.org/obo/MONDO_0017418 CIF ordo_clinical_syndrome UBERON:0002062 endocardial cushion biolink:AnatomicalEntity mondo The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. http://purl.obolibrary.org/obo/UBERON_0002062 endocardial cushions|cardiac cushion|atrioventricular cushion|AV cushion|endocardial cushion tissue|atrioventricular canal cushion MONDO:0017419 non-syndromic amelia biolink:Disease mondo MedDRA:10001926|SCTID:62588002|Orphanet:294925|NCIT:C34370|HP:0009827|ICD10:Q73.0 A congenital malformation characterized by the complete absence of all limbs. MEDDRA:10001926|UMLS:C0002447|NCIT:C34370|SNOMEDCT:62588002|ORPHA:294925 http://purl.obolibrary.org/obo/MONDO_0017419 isolated amelia|nonsyndromic amelia|amelia ordo_group_of_disorders MONDO:0017413 Reunion island Larsen syndrome biolink:Disease mondo Orphanet:294049|ICD10:Q74.8|UMLS:CN203163|EFO:0002319 ORPHA:294049|UMLS:CN203163 http://purl.obolibrary.org/obo/MONDO_0017413 RLS|multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome ordo_disease MONDO:0017414 obsolete rare nevus biolink:Disease mondo Orphanet:294057 Rare nevus. ORPHA:294057 http://purl.obolibrary.org/obo/MONDO_0017414 rare melanocytic nevus|rare nevus obsoletion_candidate|ordo_group_of_disorders MONDO:0017415 multiple pterygium syndrome biolink:Disease mondo ICD10:Q79.8|ICD9:755.8|DOID:0080110|SCTID:205819008|Orphanet:294060|MESH:C537377 DOID:0080110|MESH:C537377|UMLS:C0265261|ORPHA:294060|SNOMEDCT:205819008 http://purl.obolibrary.org/obo/MONDO_0017415 pterygium syndrome ordo_group_of_disorders ECTO:0000173 corticosteroid exposure biolink:OntologyClass mondo An exposure to corticosterone. http://purl.obolibrary.org/obo/ECTO_0000173 exposure to corticosteroid|exposure to corticosterone UBERON:0002061 truncus arteriosus biolink:AnatomicalEntity mondo The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. http://purl.obolibrary.org/obo/UBERON_0002061 MONDO:0017416 postpoliomyelitis syndrome biolink:Disease mondo Orphanet:2942|DOID:4952|SCTID:31097004|UMLS:C0080040|MESH:D016262|ICD10:G14|GARD:0004454|EFO:0007454 Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing. SNOMEDCT:31097004|ORPHA:2942|DOID:4952|UMLS:C0080040|MESH:D016262 http://purl.obolibrary.org/obo/MONDO_0017416 post-polio sequelae|post-polio muscular atrophy|postpolio syndrome|polio late effects|postpoliomyelitic syndrome|postpoliomyelitis sequelae|post-poliomyelitic syndrome|post polio syndrome|postpoliomyelitis syndrome|postpolio sequelae ordo_disease UBERON:0002060 femoral artery biolink:AnatomicalEntity mondo The femoral artery is a large artery in the muscles of the thigh. It is a continuation of external iliac artery where it enters the femoral triangle at the mid inguinal point behind the inguinal ligament. It leaves femoral triangle through apex beneath the sartorius muscle. It enters the popliteal fossa by passing through the 5th osseo-aponeurotic(adductor hiatus) opening of adductor magnus where it becomes the Popliteal Artery. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002060 arteria femoralis MONDO:0017410 porencephaly biolink:Disease mondo ICD10:Q04.6|OMIMPS:175780|MESH:D065708|Orphanet:2940|MedDRA:10036172|DOID:0060263|HP:0002132|GARD:0007430 Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly. MEDDRA:10036172|ORPHA:2940|MESH:D065708|DOID:0060263 http://purl.obolibrary.org/obo/MONDO_0017410 ordo_disease|gard_rare MONDO:0017411 neonatal inflammatory skin and bowel disease biolink:Disease mondo DC:0000674|Orphanet:294023|UMLS:CN228266|OMIMPS:614328 Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. ORPHA:294023|UMLS:CN228266 http://purl.obolibrary.org/obo/MONDO_0017411 inflammatory skin and bowel disease, neonatal ordo_disease MONDO:0017412 2q31.1 microduplication syndrome biolink:Disease mondo Orphanet:294026|ICD10:Q92.3|UMLS:CN203162 ORPHA:294026|UMLS:CN203162 http://purl.obolibrary.org/obo/MONDO_0017412 trisomy 2q31.1|dup(2)(q31.1) ordo_malformation_syndrome UBERON:0002067 dermis biolink:AnatomicalEntity mondo The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. http://purl.obolibrary.org/obo/UBERON_0002067 vertebrate dermis|cutis|corium UBERON:0002069 stratum granulosum of epidermis biolink:AnatomicalEntity mondo the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis http://purl.obolibrary.org/obo/UBERON_0002069 stratum granulosum|epidermis stratum granulosum|granular layer of epidermis|epidermis granular layer UBERON:0002068 urachus biolink:AnatomicalEntity mondo A fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies[MP]. http://purl.obolibrary.org/obo/UBERON_0002068 MONDO:0005439 familial hypercholesterolemia biolink:Disease mondo DOID:13810|EFO:0004911|OMIMPS:143890|SCTID:190773008|UMLS:CN118841|NCIT:C34704|ICD10:E78.0|ICD9:V19.8 An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. UMLS:CN118841|NCIT:C34704|SNOMEDCT:190773008|DOID:13810 http://purl.obolibrary.org/obo/MONDO_0005439 familial hyperbetalipoproteinaemia|type II hyperlipidemia|hyperlipoproteinemia type II|Fredrickson type IIa lipidaemia|familial hypercholesteremia|Fredrickson type IIa hyperlipoproteinemia|hyperbetalipoproteinemia MONDO:0005438 metastatic malignant neoplasm in the lymph nodes biolink:Disease mondo NCIT:C4904|UMLS:C0686619|EFO:0004906 The spread of a malignant neoplasm to the lymph nodes. NCIT:C4904|UMLS:C0686619 http://purl.obolibrary.org/obo/MONDO_0005438 metastatic neoplasm to the lymph node|metastatic tumor to lymph node|metastasis to lymph node|metastatic malignant neoplasm to the lymph nodes|Metastases to lymph nodes MONDO:0005435 anti-neutrophil antibody associated vasculitis biolink:Disease mondo EFO:0004826 Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. http://purl.obolibrary.org/obo/MONDO_0005435 MONDO:0005434 skin sensitivity to sun biolink:Disease mondo EFO:0004795 The response of human skin to sun exposure. http://purl.obolibrary.org/obo/MONDO_0005434 MONDO:0005437 testicular dysgenesis syndrome biolink:Disease mondo SCTID:445338005|EFO:0004893|UMLS:C2919755 A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. UMLS:C2919755|SNOMEDCT:445338005 http://purl.obolibrary.org/obo/MONDO_0005437 MONDO:0005436 postoperative ventricular dysfunction biolink:Disease mondo EFO:0004889 Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality. http://purl.obolibrary.org/obo/MONDO_0005436 MONDO:0005431 obsolete toxic epidermal necrolysis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005431 MONDO:0005430 early onset hypertension biolink:Disease mondo EFO:0004772 A form of hypertension with early onset relative to normal range for a given population. http://purl.obolibrary.org/obo/MONDO_0005430 MONDO:0005433 alcohol withdrawal biolink:Disease mondo SCTID:191480000|EFO:0004777|UMLS:C0236663|ICD9:291.81 UMLS:C0236663|SNOMEDCT:191480000 http://purl.obolibrary.org/obo/MONDO_0005433 alcohol withdrawal syndrome MONDO:0005432 alcohol and nicotine codependence biolink:Disease mondo EFO:0004776 A drug dependence that is the physiological result of being addicted to alcohol and nicotine. http://purl.obolibrary.org/obo/MONDO_0005432 UBERON_CORE:extends_fibers_into extends_fibers_into biolink:OntologyClass mondo http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into UBERON:0002052 adrenal gland capsule biolink:AnatomicalEntity mondo the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers; some blood vessels and nerves enter the substance of the gland in the trabeculae that extend inward from the capsule and then leave the trabeculae to enter the cortex. http://purl.obolibrary.org/obo/UBERON_0002052 capsule of adrenal gland|adrenal capsule MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome biolink:Disease mondo UMLS:CN203156|Orphanet:293967 ORPHA:293967|UMLS:CN203156 http://purl.obolibrary.org/obo/MONDO_0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome ordo_malformation_syndrome UBERON:0002051 epithelium of bronchiole biolink:AnatomicalEntity mondo An epithelium that is part of a bronchiole [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002051 epithelial tissue of lobular bronchiole|epithelium of lobular bronchiole|bronchiole epithelial tissue|lobular bronchiole epithelium|epithelial tissue of bronchiole|lobular bronchiole epithelial tissue|bronchiolar epithelium|bronchiole epithelium MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome biolink:Disease mondo Orphanet:293978 ORPHA:293978 http://purl.obolibrary.org/obo/MONDO_0017407 David syndrome ordo_disease MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome biolink:Disease mondo Orphanet:293987|GARD:0010407|UMLS:C4053506|UMLS:CN203158|NCIT:C121944 A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin. UMLS:C4053506|ORPHA:293987|UMLS:CN203158|NCIT:C121944 http://purl.obolibrary.org/obo/MONDO_0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome|ROHHAD|ROHHADNET|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome|ROHHAD syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation|rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation ordo_disease MONDO:0017409 fetal cytomegalovirus syndrome biolink:Disease mondo GARD:0001409|GARD:0001480|ICD10:P35.1|SCTID:276701009|Orphanet:294|UMLS:C0349499|NCIT:C122427 An infection with the Cytomegalovirus that is present from birth. SNOMEDCT:276701009|NCIT:C122427|ORPHA:294|UMLS:C0349499 http://purl.obolibrary.org/obo/MONDO_0017409 antenatal CMV infection|antenatal cytomegalovirus infection|congenital Cytomegaloviral infection|CMV antenatal infection|mother-to-child transmission of cytomegalovirus syndrome|congenital cytomegalovirus gard_rare|ordo_disease MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form biolink:Disease mondo UMLS:CN203146|ICD10:I42.8|Orphanet:293899 ORPHA:293899|UMLS:CN203146 http://purl.obolibrary.org/obo/MONDO_0017402 familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form ordo_clinical_subtype MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form biolink:Disease mondo UMLS:CN203147|Orphanet:293910|ICD10:I42.8 UMLS:CN203147|ORPHA:293910 http://purl.obolibrary.org/obo/MONDO_0017403 familial isolated arrhythmogenic ventricular dysplasia, classic form|familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form|familial isolated arrhythmogenic ventricular cardiomyopathy, classic form ordo_clinical_subtype GO:0140110 transcription regulator activity biolink:OntologyClass mondo A molecular function that controls the rate, timing and/or magnitude of gene transcription. The function of transcriptional regulators is to modulate gene expression at the transcription step so that they are expressed in the right cell at the right time and in the right amount throughout the life of the cell and the organism. Genes are transcriptional units, and include bacterial operons. http://purl.obolibrary.org/obo/GO_0140110 MONDO:0017404 distal Xq28 microduplication syndrome biolink:Disease mondo UMLS:CN203151|Orphanet:293939|ICD10:Q99.8 Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. ORPHA:293939|UMLS:CN203151 http://purl.obolibrary.org/obo/MONDO_0017404 distal trisomy Xq28|distal dup(X)q(28) ordo_malformation_syndrome UBERON:0002050 embryonic structure biolink:AnatomicalEntity mondo Anatomical structure that is part of an embryo. http://purl.obolibrary.org/obo/UBERON_0002050 embryonic anatomical structure|embryonale Struktur|developing structure|developing embryonic structure|embryonic structures GO:0140112 extracellular vesicle biogenesis biolink:OntologyClass mondo The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle assembly MONDO:0017405 1p21.3 microdeletion syndrome biolink:Disease mondo ICD10:Q93.5|UMLS:C4304578|Orphanet:293948|SCTID:719600006|UMLS:CN203152 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. ORPHA:293948|UMLS:CN203152|SNOMEDCT:719600006|UMLS:C4304578 http://purl.obolibrary.org/obo/MONDO_0017405 monosomy 1p21.3|Del(1)p(21.3) ordo_malformation_syndrome UBERON:0002059 submandibular ganglion biolink:AnatomicalEntity mondo the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands http://purl.obolibrary.org/obo/UBERON_0002059 lingual ganglion|maxillary ganglion|submaxillary ganglion|ganglion submandibulare|Blandin`s ganglion|mandibular ganglion HGNC:15597 HPS3 biolink:OntologyClass mondo http://identifiers.org/hgnc/15597 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome biolink:Disease mondo ICD10:Q45.8|UMLS:C2748662|Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. UMLS:C2748662|ORPHA:293864 http://purl.obolibrary.org/obo/MONDO_0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ordo_malformation_syndrome HGNC:15598 HAMP biolink:OntologyClass mondo http://identifiers.org/hgnc/15598 MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form biolink:Disease mondo UMLS:CN203145|ICD10:I42.8|Orphanet:293888 ORPHA:293888|UMLS:CN203145 http://purl.obolibrary.org/obo/MONDO_0017401 familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form ordo_clinical_subtype UBERON:0002056 inferior suprarenal artery biolink:AnatomicalEntity mondo Each renal artery gives off some small inferior suprarenal branches to the suprarenal gland, the ureter, and the surrounding cellular tissue and muscles. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002056 arteria suprarenalis inferior UBERON:0002057 phrenic artery biolink:AnatomicalEntity mondo An artery that supplies the diaphragm http://purl.obolibrary.org/obo/UBERON_0002057 MONDO:0017470 congenital knee dislocation (disease) biolink:Disease mondo MedDRA:10010520|ICD10:Q68.2|Orphanet:295034|ICD9:754.41|SCTID:59068006|HP:0005191 SNOMEDCT:59068006|MEDDRA:10010520|ORPHA:295034|UMLS:C0265669 http://purl.obolibrary.org/obo/MONDO_0017470 congenital knee dislocation ordo_morphological_anomaly MONDO:0005489 dyslexia (disease) biolink:Disease mondo DOID:4428|NCIT:C96410|ICD10:F81.0|COHD:442335|EFO:0005424|HP:0010522 A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension. NCIT:C96410|DOID:4428 http://purl.obolibrary.org/obo/MONDO_0005489 dyslexia MONDO:0005486 tooth agenesis biolink:Disease mondo EFO:0005410|Orphanet:99798|DOID:0050591|SCTID:64969001|ICD10:K00.0|OMIMPS:106600|UMLS:CN169366|ICD9:520.0 Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. UMLS:CN169366|ORPHA:99798|DOID:0050591|SNOMEDCT:64969001 http://purl.obolibrary.org/obo/MONDO_0005486 selective tooth agenesis|familial tooth agenesis|tooth agenesis, selective|oligodontia|hypodontia ordo_morphological_anomaly MONDO:0005485 psychotic disorder biolink:Disease mondo ICD9:298.8|HP:0000709|SCTID:69322001|EFO:0005407|DOID:2468|ICD9:298.9|NCIT:C78576 An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities. DOID:2468|NCIT:C78576|SNOMEDCT:69322001 http://purl.obolibrary.org/obo/MONDO_0005485 psychosis|mental or behavioural disorder MONDO:0005488 adolescent idiopathic scoliosis biolink:Disease mondo SCTID:203646004|EFO:0005423 A scoliosis with no known cause arising in adolescent. SNOMEDCT:203646004 http://purl.obolibrary.org/obo/MONDO_0005488 MONDO:0005487 schizoaffective disorder biolink:Disease mondo ICD10:F25.9|NCIT:C94378|DOID:5418|ICD9:295.7|ICD10:F25|COHD:4286201|EFO:0005411 A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms. NCIT:C94378|DOID:5418 http://purl.obolibrary.org/obo/MONDO_0005487 MONDO:0005482 molar-incisor hypomineralization biolink:Disease mondo ICD9:520.5|SCTID:698053001|EFO:0005321 A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors SNOMEDCT:698053001 http://purl.obolibrary.org/obo/MONDO_0005482 MONDO:0005481 contact dermatitis due to nickel biolink:Disease mondo SCTID:93419003|UMLS:C0684345|EFO:0005320 A form of allergic contact dermatitis that results from exposure to nickel SNOMEDCT:93419003|UMLS:C0684345 http://purl.obolibrary.org/obo/MONDO_0005481 MONDO:0005484 colorectal adenoma biolink:Disease mondo NCIT:C5673|DOID:0050914|DOID:0050860|EFO:0005406|SCTID:399432003|UMLS:C1302401 An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. NCIT:C5673|SNOMEDCT:399432003|UMLS:C1302401|DOID:0050914|DOID:0050860 http://purl.obolibrary.org/obo/MONDO_0005484 adenoma of the large bowel|adenoma of large bowel|large intestine adenoma|colorectum adenoma|colorectal adenoma|adenoma of the large intestine|adenoma of large intestine|large bowel adenoma MONDO:0005483 chemotherapy-induced alopecia biolink:Disease mondo EFO:0005400 Hair loss as a result of chemotherapy treatment. http://purl.obolibrary.org/obo/MONDO_0005483 MONDO:0005480 contact dermatitis biolink:Disease mondo DOID:2773|ICD10:L25.9|ICD9:692.89|UMLS:C0011616|EFO:0005319|COHD:134438|SCTID:40275004|NCIT:C26743|ICD10:L25|MESH:D003877|ICD9:692.9 An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. NCIT:C26743|MESH:D003877|UMLS:C0011616|DOID:2773|SNOMEDCT:40275004 http://purl.obolibrary.org/obo/MONDO_0005480 dermatitis venenata|dermatitis, venenata NOS|contact dermatitis NOS|contact dermatitis/eczema|contact eczema|contact dermatitis|dermatitis, venenata MONDO:0017479 amelia of upper limb, bilateral biolink:Disease mondo ICD10:Q71.0|Orphanet:295055 ORPHA:295055 http://purl.obolibrary.org/obo/MONDO_0017479 ordo_clinical_subtype MONDO:0017475 macrodactyly of toes biolink:Disease mondo GARD:0006951|MESH:C537719|ICD10:Q74.2|Orphanet:295047|HP:0100747 MESH:C537719|ORPHA:295047 http://purl.obolibrary.org/obo/MONDO_0017475 Megalodactyly of the foot|megalodactylism of the foot|macrodactyly of the foot|macrodactyly of foot ordo_morphological_anomaly HP:0006530 Interstitial pulmonary abnormality biolink:PhenotypicFeature mondo UMLS:C0206062|SNOMEDCT_US:233703007|MSH:D017563 Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. http://purl.obolibrary.org/obo/HP_0006530 Interstitial lung disease|Interstitial pulmonary disease|Abnormal lung parenchyma morphology|Abnormality in area between air sacs in lung SO:1000183 chromosome_structure_variation biolink:SequenceFeature mondo An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. http://purl.obolibrary.org/obo/SO_1000183 snpEff:CHROMOSOME_LARGE_DELETION|chromosome structure variation MONDO:0017476 upper limb hypertrophy biolink:Disease mondo Orphanet:295049|ICD10:Q74.0 UMLS:C0575518|ORPHA:295049 http://purl.obolibrary.org/obo/MONDO_0017476 ordo_morphological_anomaly MONDO:0017477 lower limb hypertrophy biolink:Disease mondo Orphanet:295051|ICD10:Q74.2 Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia. ORPHA:295051 http://purl.obolibrary.org/obo/MONDO_0017477 ordo_morphological_anomaly UBERON_CORE:sexually_homologous_to sexually_homologous_to biolink:OntologyClass mondo http://purl.obolibrary.org/obo/uberon/core#sexually_homologous_to MONDO:0017478 amelia of upper limb, unilateral biolink:Disease mondo ICD10:Q71.0|Orphanet:295053 ORPHA:295053 http://purl.obolibrary.org/obo/MONDO_0017478 ordo_clinical_subtype MONDO:0017471 congenital patella dislocation biolink:Disease mondo ICD10:Q74.1|SCTID:205067002|GARD:0009692|Orphanet:295036|MESH:C538081 MESH:C538081|UMLS:C0345360|ORPHA:295036|SNOMEDCT:205067002 http://purl.obolibrary.org/obo/MONDO_0017471 congenital patellar dislocation|congenital dislocation of the patella gard_rare|ordo_morphological_anomaly MONDO:0017472 patella aplasia/hypoplasia, unilateral biolink:Disease mondo Orphanet:295038|ICD10:Q74.1 ORPHA:295038 http://purl.obolibrary.org/obo/MONDO_0017472 ordo_clinical_subtype MONDO:0017473 patella aplasia/hypoplasia, bilateral biolink:Disease mondo ICD10:Q74.1|Orphanet:295041 ORPHA:295041 http://purl.obolibrary.org/obo/MONDO_0017473 ordo_clinical_subtype HGNC:15561 IL36RN biolink:OntologyClass mondo http://identifiers.org/hgnc/15561 MONDO:0017474 macrodactyly of fingers biolink:Disease mondo SCTID:297195000|ICD10:Q74.0|HP:0100746|Orphanet:295044|GARD:0008529|MESH:C537720 MESH:C537720|ORPHA:295044|SNOMEDCT:297195000 http://purl.obolibrary.org/obo/MONDO_0017474 macrodactyly of the hand|Megalodactyly of the hand|macrodactyly of hand|megalodactylism of the hand ordo_morphological_anomaly MONDO:0005497 bone development disease biolink:Disease mondo DOID:0080006|SCTID:371521007|EFO:0005541 A disease involving the bone development. SNOMEDCT:371521007|DOID:0080006 http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease or disorder|disorder of bone development|disease of bone development|disorder of bone development|disease or disorder of bone development|bone development disease MONDO:0005496 bile duct carcinoma biolink:Disease mondo EFO:0005540|NCIT:C27814|UMLS:C0740277|DOID:4897 A carcinoma that arises from epithelial cells of the bile duct NCIT:C27814|UMLS:C0740277|DOID:4897 http://purl.obolibrary.org/obo/MONDO_0005496 bile duct cancer|carcinoma of bile duct|bile duct carcinoma|bile duct cancer (including cholangiocarcinoma) MONDO:0005499 brain glioma biolink:Disease mondo UMLS:C0349661|SCTID:254937005|DOID:0060108|EFO:0005543 A malignant glioma that involves the brain. UMLS:C0349661|SNOMEDCT:254937005|DOID:0060108 http://purl.obolibrary.org/obo/MONDO_0005499 brain malignant glioma|malignant glioma of brain MONDO:0005498 botulism biolink:Disease mondo MedDRA:10006041|SCTID:398565003|GARD:0000943|MESH:D001906|UMLS:C0006057|DOID:11976|CSP:5000-0060|NCIT:C84599|Orphanet:1267|ICD10:A05.1|EFO:0005542 A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure. NCIT:C84599|DOID:11976|SNOMEDCT:398565003|MEDDRA:10006041|ORPHA:1267|MESH:D001906|UMLS:C0006057 http://purl.obolibrary.org/obo/MONDO_0005498 foodborne botulism|infant botulism (subtype)|food poisoning due to Clostridium botulinum|infection due to Clostridium botulinum|botulism|wound botulism (subtype)|foodborne botulism (subtype)|intoxication with Clostridium botulinum toxin|botulism poisoning ordo_disease|gard_rare MONDO:0005493 delayed encephalopathy after acute carbon monoxide poisoning biolink:Disease mondo EFO:0005534 Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event http://purl.obolibrary.org/obo/MONDO_0005493 MONDO:0005492 urticaria (disease) biolink:Disease mondo ICD9:708.8|SCTID:126485001|NCIT:C3432|UMLS:C0042109|ICD9:708|DOID:1555|ICD10:L50|ICD9:708.9|MESH:D014581|COHD:139900|EFO:0005531|HP:0001025 A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. SNOMEDCT:126485001|NCIT:C3432|MESH:D014581|UMLS:C0042109|DOID:1555 http://purl.obolibrary.org/obo/MONDO_0005492 hives|Urticarias|urticaria MONDO:0005495 adrenal gland disease biolink:Disease mondo MESH:D000307|ICD10:E27.9|NCIT:C26690|EFO:0005539|SCTID:30171000|DOID:9553|COHD:193165|ICD9:255|ICD9:255.8|ICD9:255.9 A disease involving the adrenal gland. DOID:9553|NCIT:C26690|MESH:D000307|SNOMEDCT:30171000 http://purl.obolibrary.org/obo/MONDO_0005495 disorder of adrenal gland|adrenal gland diseases|disease or disorder of adrenal gland|disease of adrenal gland|adrenal gland disorder|adrenal gland disease or disorder|adrenal gland disorders|adrenal gland disease|disorder of adrenal gland MONDO:0005494 triple-negative breast carcinoma biolink:Disease mondo DOID:0060081|SCTID:706970001|EFO:0005537|UMLS:C3539878|MESH:D064726|NCIT:C71732 An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). NCIT:C71732|SNOMEDCT:706970001|UMLS:C3539878|DOID:0060081|MESH:D064726 http://purl.obolibrary.org/obo/MONDO_0005494 triple-negative breast carcinoma|triple-negative breast cancer|triple-receptor negative breast cancer MONDO:0005491 Chagas cardiomyopathy biolink:Disease mondo EFO:0005529|SCTID:998008|ICD9:086.0|MESH:D002598 A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly. MESH:D002598|SNOMEDCT:998008 http://purl.obolibrary.org/obo/MONDO_0005491 Trypanosoma cruzi cardiomyopathy|Trypanosoma cruzi caused cardiomyopathy MONDO:0005490 large artery stroke biolink:Disease mondo EFO:0005524 Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain. http://purl.obolibrary.org/obo/MONDO_0005490 MONDO:0017468 congenital shoulder dislocation biolink:Disease mondo Orphanet:295030|ICD10:Q68.8|SCTID:23876003|ICD9:755.59 SNOMEDCT:23876003|UMLS:C0265562|ORPHA:295030 http://purl.obolibrary.org/obo/MONDO_0017468 ordo_morphological_anomaly MONDO:0017469 congenital elbow dislocation biolink:Disease mondo Orphanet:295032|ICD10:Q68.8 ORPHA:295032|UMLS:C0265561 http://purl.obolibrary.org/obo/MONDO_0017469 isolated congenital elbow dislocation|isolated congenital radial head dislocation|congenital radial head dislocation ordo_morphological_anomaly HGNC:15574 RB1CC1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15574 MONDO:0017464 congenital pseudoarthrosis of the fibula biolink:Disease mondo ICD10:Q74.2|Orphanet:295022 ORPHA:295022 http://purl.obolibrary.org/obo/MONDO_0017464 congenital pseudarthrosis of the fibula ordo_clinical_subtype ECTO:0000163 organic cyclic compound exposure biolink:OntologyClass mondo An exposure to organic cyclic compound. http://purl.obolibrary.org/obo/ECTO_0000163 exposure to organic cyclic compound MONDO:0017465 congenital pseudoarthrosis of the radius biolink:Disease mondo ICD10:Q74.0|Orphanet:295024 ORPHA:295024 http://purl.obolibrary.org/obo/MONDO_0017465 congenital pseudarthrosis of the radius ordo_clinical_subtype MONDO:0017466 congenital pseudoarthrosis of the ulna biolink:Disease mondo Orphanet:295026|ICD10:Q74.0 ORPHA:295026 http://purl.obolibrary.org/obo/MONDO_0017466 congenital pseudarthrosis of the ulna ordo_clinical_subtype MONDO:0017467 tibio-fibular synostosis biolink:Disease mondo SCTID:737581000|Orphanet:295028|ICD10:Q74.2 Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. SNOMEDCT:737581000|ORPHA:295028 http://purl.obolibrary.org/obo/MONDO_0017467 Tibio-fibular fusion ordo_morphological_anomaly MONDO:0017460 syndactyly type 6 biolink:Disease mondo SCTID:763624007|UMLS:CN203203|Orphanet:295012|ICD10:Q70.1 Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers. UMLS:CN203203|ORPHA:295012|SNOMEDCT:763624007 http://purl.obolibrary.org/obo/MONDO_0017460 mitten hand|unilateral syndactyly of digits 2-5|syndactyly, mitten type ordo_morphological_anomaly MONDO:0017461 familial isolated clinodactyly of fingers biolink:Disease mondo ICD10:Q68.1|Orphanet:295014|SCTID:763691008 Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. SNOMEDCT:763691008|ORPHA:295014 http://purl.obolibrary.org/obo/MONDO_0017461 ordo_morphological_anomaly MONDO:0017462 congenital pseudoarthrosis of the tibia biolink:Disease mondo NCIT:C132080|UMLS:C0265661|Orphanet:295018|SCTID:55379003|ICD10:Q74.2 A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1. NCIT:C132080|SNOMEDCT:55379003|ORPHA:295018|UMLS:C0265661 http://purl.obolibrary.org/obo/MONDO_0017462 congenital pseudarthrosis of tibia|congenital pseudarthrosis of the tibia ordo_clinical_subtype MONDO:0017463 congenital pseudoarthrosis of the femur biolink:Disease mondo ICD10:Q74.2|Orphanet:295020 ORPHA:295020 http://purl.obolibrary.org/obo/MONDO_0017463 congenital pseudarthrosis of the femur ordo_clinical_subtype HGNC:15573 SETBP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15573 MONDO:0005468 hypotensive disorder biolink:Disease mondo ICD9:458.8|HP:0002615|SCTID:45007003|EFO:0005251|ICD9:458.9|MESH:D007022|ICD9:458 Blood pressure that is abnormally low. MESH:D007022|NCIT:C3128|SNOMEDCT:45007003 http://purl.obolibrary.org/obo/MONDO_0005468 hypotension (disease)|hypotension MONDO:0005467 occupation-related stress disorder biolink:Disease mondo Wikipedia:Occupational_stress|EFO:0005250|SCTID:10586006 The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope. SNOMEDCT:10586006 http://purl.obolibrary.org/obo/MONDO_0005467 MONDO:0005469 orthostatic hypotension (disease) biolink:Disease mondo SCTID:28651003|HP:0001278|EFO:0005252|ICD9:458.0 Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up. NCIT:C84970|SNOMEDCT:28651003 http://purl.obolibrary.org/obo/MONDO_0005469 orthostatic hypotension MONDO:0005464 rhegmatogenous retinal detachment biolink:Disease mondo NCIT:C118755|UMLS:C0271055|EFO:0005240|SCTID:19620000 Retinal detachment secondary to retinal tear or break. UMLS:C0271055|SNOMEDCT:19620000|NCIT:C118755 http://purl.obolibrary.org/obo/MONDO_0005464 MONDO:0005463 aortic valve calcification (disease) biolink:Disease mondo SCTID:250978003|UMLS:C0428791|EFO:0005239|HP:0004380 Calcification of the aortic valve UMLS:C0428791|SNOMEDCT:250978003 http://purl.obolibrary.org/obo/MONDO_0005463 aortic valve calcification MONDO:0005466 hypersomnia (disease) biolink:Disease mondo UMLS:C0917799|SCTID:77692006|EFO:0005246|HP:0100786|ICD9:780.54|NCIT:C78346 A sleep disorder characterized by excessive sleepiness. UMLS:C0917799|SNOMEDCT:77692006|NCIT:C78346 http://purl.obolibrary.org/obo/MONDO_0005466 hypersomnia MONDO:0005465 methamphetamine-induced psychosis biolink:Disease mondo EFO:0005242 Abnormal mental state resulting from an abuse of methamphetamine http://purl.obolibrary.org/obo/MONDO_0005465 MONDO:0005460 swine influenza biolink:Disease mondo NCIT:C80444|SCTID:442696006|DOID:0050211|EFO:0005226 An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness. SNOMEDCT:442696006|DOID:0050211|NCIT:C80444 http://purl.obolibrary.org/obo/MONDO_0005460 Swine influenza virus influenza|H1N1 Virus infection|H1N1 flu|swine flu|Influenza A (H1N1)|Influenza A (H1N1) Virus infection|H1N1 Influenza|Swine influenza virus caused influenza MONDO:0005462 primitive neuroectodermal tumor biolink:Disease mondo EFO:0005235|ICDO:9503/3|ONCOTREE:PNET|MESH:D017599|NCIT:C3716|DOID:171|ICDO:9473/3 A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors. MESH:D017599|NCIT:C3716|DOID:171 http://purl.obolibrary.org/obo/MONDO_0005462 neuroectodermal neoplasm|neuroectodermal tumor|PNET|primitive neuroectodermal neoplasm|neuroepithelioma|primitive neuroectodermal tumor (PNET)|primitive neuroectodermal tumor MONDO:0005461 endometrium adenocarcinoma biolink:Disease mondo DOID:2870|UMLS:C1153706|EFO:0005232|NCIT:C7359|UMLS:C0279763 An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma. DOID:2870|UMLS:C1153706|UMLS:C0279763|NCIT:C7359 http://purl.obolibrary.org/obo/MONDO_0005461 endometrial endometrioid adenocarcinoma with squamous differentiation|adenocarcinoma of endometrium|endometrial adenocarcinoma|endometrioid adenomas and carcinomas|adenocarcinoma, endometrial, malignant|endometrium adenocarcinoma|adenocarcinoma of the endometrium|endometrioid adenoma or carcinoma NOS (morphologic abnormality)|endometrial endometrioid adenocarcinoma|endometrial adenoacanthoma|endometrioid adenoma or carcinoma|endometrioid adenomas and carcinomas (morphologic abnormality)|adenocarcinoma of uterus|endometrioid carcinoma of endometrium HP:0006517 Intraalveolar phospholipid accumulation biolink:PhenotypicFeature mondo MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050 Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. http://purl.obolibrary.org/obo/HP_0006517 Alveolar proteinosis|Pulmonary alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage MONDO:0017457 Preaxial polydactyly of toes biolink:Disease mondo GARD:0012771|SCTID:205132000|Orphanet:295006|ICD10:Q69.2 ORPHA:295006|UMLS:C0432036|SNOMEDCT:205132000 http://purl.obolibrary.org/obo/MONDO_0017457 bifid great toes|bifid hallux|preaxial polydactyly of foot|bifid halluces ordo_morphological_anomaly MONDO:0017458 obsolete postaxial polydactyly of toes biolink:Disease mondo GARD:0012770|SCTID:205133005|Orphanet:295008|ICD10:Q69.2 ORPHA:295008|SNOMEDCT:205133005|UMLS:C0432037 http://purl.obolibrary.org/obo/MONDO_0017458 postaxial polydactyly of foot MONDO:0017459 obsolete central polydactyly of toes biolink:Disease mondo Orphanet:295010|SCTID:253967005|ICD10:Q69.2 ORPHA:295010|SNOMEDCT:253967005 http://purl.obolibrary.org/obo/MONDO_0017459 mirror foot|central polydactyly of foot|mesoaxial polydactyly of toes MONDO:0017453 fetal parvovirus syndrome biolink:Disease mondo GARD:0004236|GARD:0002310|MESH:C536301|ICD10:P35.8|Orphanet:295|SCTID:715197005 Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis. SNOMEDCT:715197005|ORPHA:295|MESH:C536301 http://purl.obolibrary.org/obo/MONDO_0017453 fifth disease|mother-to-child transmission of parvovirus syndrome|Maternofetal infection by parvovirus|Parvovirus antenatal infection|Human parvovirus B19 caused infectious embryofetopathy|Parvovirus B19 antenatal infection|Human parvovirus B19 infectious embryofetopathy gard_rare|ordo_malformation_syndrome MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome biolink:Disease mondo ICD10:Q74.8|UMLS:CN203197|Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. UMLS:C1969369|UMLS:CN203197|ORPHA:2950|MESH:C536563 http://purl.obolibrary.org/obo/MONDO_0017454 TPT-PS syndrome ordo_malformation_syndrome MONDO:0017455 hyperphalangy biolink:Disease mondo ICD10:Q74.8|Orphanet:295002|SCTID:763535005 Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies. SNOMEDCT:763535005|ORPHA:295002 http://purl.obolibrary.org/obo/MONDO_0017455 supernumerary phalanx|supernumerary phalanges ordo_morphological_anomaly MONDO:0017456 central polydactyly of fingers biolink:Disease mondo GARD:0012769|ICD10:Q69.0|Orphanet:295004|SCTID:205130008 SNOMEDCT:205130008|UMLS:C0431903|ORPHA:295004 http://purl.obolibrary.org/obo/MONDO_0017456 mesoaxial polydactyly|mirror hand|mesoaxial polydactyly of fingers|central polydactyly|central polydactyly of hand ordo_morphological_anomaly ECTO:0000135 organic molecular entity exposure biolink:OntologyClass mondo An exposure to organic molecular entity. http://purl.obolibrary.org/obo/ECTO_0000135 exposure to organic molecular entity MONDO:0017450 split foot (disease) biolink:Disease mondo ICD10:Q72.7|SCTID:205358006|HP:0001839|Orphanet:294994 ORPHA:294994|SNOMEDCT:205358006|UMLS:C0432028 http://purl.obolibrary.org/obo/MONDO_0017450 split foot ordo_morphological_anomaly MONDO:0017451 non-syndromic brachydactyly of fingers biolink:Disease mondo Orphanet:294996|ICD10:Q71.8 A non-syndromic brachydactyly that involves the manus. ORPHA:294996 http://purl.obolibrary.org/obo/MONDO_0017451 non-syndromic brachydactyly of manus|short fingers|manus non-syndromic brachydactyly ordo_morphological_anomaly MONDO:0017452 non-syndromic brachydactyly of toes biolink:Disease mondo ICD9:755.66|Orphanet:294998|SCTID:205346006|ICD10:Q72.8 A non-syndromic brachydactyly that involves the pes. ORPHA:294998|SNOMEDCT:205346006|UMLS:C0432029 http://purl.obolibrary.org/obo/MONDO_0017452 non-syndromic brachydactyly of pes|short toes|pes non-syndromic brachydactyly ordo_morphological_anomaly MONDO:0005479 atrial tachycardia biolink:Disease mondo ICD9:427.89|SCTID:276796006|NCIT:C35481|EFO:0005308 A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC) SNOMEDCT:276796006|NCIT:C35481 http://purl.obolibrary.org/obo/MONDO_0005479 MONDO:0005478 torsades de pointes biolink:Disease mondo UMLS:C0040479|SCTID:31722008|EFO:0005307|HP:0001664|MESH:D016171 A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation. UMLS:C0040479|MESH:D016171|SNOMEDCT:31722008 http://purl.obolibrary.org/obo/MONDO_0005478 MONDO:0005475 migraine with aura biolink:Disease mondo SCTID:4473006|MESH:D020325|ICD10:G43.1|COHD:381549|UMLS:C0154723|EFO:0005295|DOID:10024|NCIT:C117005|ICD10:G43.109|ICD9:346.00|HP:0002077|ICD9:346.0 A migraine disorder characterized by episodes that are preceded by focal neurological symptoms. DOID:10024|UMLS:C0154723|MESH:D020325|SNOMEDCT:4473006|NCIT:C117005 http://purl.obolibrary.org/obo/MONDO_0005475 classic migraine MONDO:0005474 obsolete non-small cell lung adenocarcinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005474 MONDO:0005477 ventricular tachycardia biolink:Disease mondo SCTID:25569003|ICD10:I47.2|NCIT:C50802|COHD:4103295|UMLS:C0042514|MESH:D017180|EFO:0005306 A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) NCIT:C50802|MESH:D017180|SNOMEDCT:25569003|UMLS:C0042514 http://purl.obolibrary.org/obo/MONDO_0005477 UBERON:0002090 postcranial axial skeleton biolink:AnatomicalEntity mondo The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. http://purl.obolibrary.org/obo/UBERON_0002090 axial skeleton|post-cranial axial skeleton MONDO:0005476 atrioventricular node disease biolink:Disease mondo EFO:0005305 A disease involving the atrioventricular node. http://purl.obolibrary.org/obo/MONDO_0005476 disorder of atrioventricular node|disorder of atrioventricular node|atrioventricular node disease|disease or disorder of atrioventricular node|disease of atrioventricular node|atrioventricular node disease or disorder MONDO:0005471 neurally mediated hypotension biolink:Disease mondo EFO:0005254 Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal http://purl.obolibrary.org/obo/MONDO_0005471 MONDO:0005470 postprandial hypotension biolink:Disease mondo EFO:0005253 Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines. http://purl.obolibrary.org/obo/MONDO_0005470 MONDO:0005473 temporomandibular joint disorder biolink:Disease mondo SCTID:41888000|MESH:D013705|COHD:74396|ICD9:524.60|NCIT:C63709|ICD9:524.69|EFO:0005279 Any condition affecting the anatomic and functional characteristics of the temporomandibular joint. SNOMEDCT:41888000|MESH:D013705|NCIT:C63709 http://purl.obolibrary.org/obo/MONDO_0005473 TMD MONDO:0005472 obsolete congenital heart malformation biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005472 UBERON:0002095 mesentery biolink:AnatomicalEntity mondo Anatomical organ component composed of a double layer of serous membrane that suspends a viscus from the body wall or connects adjacent viscera and in doing so conveys blood vessels, lymphatics and nerves to and from the viscera. Examples: greater omentum, broad ligament of uterus, sigmoid mesocolon. http://purl.obolibrary.org/obo/UBERON_0002095 mesentery (generic)|generic mesentery UBERON:0002097 skin of body biolink:AnatomicalEntity mondo The organ covering the body that consists of the dermis and epidermis. http://purl.obolibrary.org/obo/UBERON_0002097 integumental organ|pelt|skin|skin organ|integument|entire skin|entire integument UBERON:0002092 brain dura mater biolink:AnatomicalEntity mondo The fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer. http://purl.obolibrary.org/obo/UBERON_0002092 dura mater encephali|cranial dura mater|dura mater of brain|dura mater cranialis MONDO:0017446 apodia biolink:Disease mondo ICD10:Q72.3|Orphanet:294986|SCTID:371197005 ORPHA:294986|SNOMEDCT:371197005 http://purl.obolibrary.org/obo/MONDO_0017446 congenital absence of foot ordo_morphological_anomaly MONDO:0017447 congenital absence/hypoplasia of thumb biolink:Disease mondo Orphanet:294988|ICD10:Q71.3 Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome. ORPHA:294988 http://purl.obolibrary.org/obo/MONDO_0017447 thumb hypodactyly|thumb oligodactyly ordo_morphological_anomaly UBERON:0002091 appendicular skeleton biolink:AnatomicalEntity mondo Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. http://purl.obolibrary.org/obo/UBERON_0002091 entire appendicular skeleton|appendicular skeleton|skeleton appendiculare|paired fin skeleton UBERON:0002094 interventricular septum biolink:AnatomicalEntity mondo Cardiac septum which separates the right ventricle from the left ventricle.[FMA] http://purl.obolibrary.org/obo/UBERON_0002094 ventricle septum|heart ventricular septum|intraventricular septum|septum inferius|septum membranaceum|s. interventriculare cordis|interventriculare cordis|heart interventricular septum|interventricular septum of heart|ventricular septum MONDO:0017448 congenital absence/hypoplasia of fingers excluding thumb biolink:Disease mondo ICD10:Q71.3|Orphanet:294990 ORPHA:294990 http://purl.obolibrary.org/obo/MONDO_0017448 digits 2-5 oligodactyly|digits 2-5 hypodactyly ordo_morphological_anomaly MONDO:0017449 split hand (disease) biolink:Disease mondo Orphanet:294992|HP:0001171|ICD10:Q71.6 Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. ORPHA:294992 http://purl.obolibrary.org/obo/MONDO_0017449 split hand|ectrodactyly of hand ordo_morphological_anomaly HGNC:15559 CHCHD10 biolink:OntologyClass mondo http://identifiers.org/hgnc/15559 UBERON:0002093 spinal dura mater biolink:AnatomicalEntity mondo A dura mater that is part of a spinal cord [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002093 dura mater of neuraxis of spinal cord|spinal cord dura mater|dura mater of spinal cord|spinal cord dura mater of neuraxis MONDO:0017442 congenital absence of thigh and lower leg with foot present biolink:Disease mondo ICD9:755.33|Orphanet:294977|ICD10:Q72.1|SCTID:55852007 SNOMEDCT:55852007|ORPHA:294977 http://purl.obolibrary.org/obo/MONDO_0017442 Femorotibiofibular intercalary transverse meromelia ordo_morphological_anomaly MONDO:0017443 congenital absence of both forearm and hand biolink:Disease mondo Orphanet:294979|ICD10:Q71.2 Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end. ORPHA:294979|UMLS:C1306663 http://purl.obolibrary.org/obo/MONDO_0017443 radio-ulnar terminal transverse meromelia ordo_morphological_anomaly MONDO:0017444 congenital absence of both lower leg and foot biolink:Disease mondo SCTID:278532000|ICD10:Q72.2|Orphanet:294981 ORPHA:294981|SNOMEDCT:278532000 http://purl.obolibrary.org/obo/MONDO_0017444 tibiofibular terminal transverse meromelia ordo_morphological_anomaly MONDO:0017445 acheiria biolink:Disease mondo Orphanet:294983|SCTID:371199008|ICD10:Q71.3 SNOMEDCT:371199008|ORPHA:294983 http://purl.obolibrary.org/obo/MONDO_0017445 congenital absence of hand ordo_morphological_anomaly UBERON:0002099 cardiac septum biolink:AnatomicalEntity mondo The thin membranous structure between the two heart atria or the thick muscular structure between the two heart ventricles. http://purl.obolibrary.org/obo/UBERON_0002099 heart septum|spiral septa|cardiac septa|heart septa|septum of heart MONDO:0017440 humeral agenesis/hypoplasia biolink:Disease mondo ICD10:Q71.8|Orphanet:294973 Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist. ORPHA:294973 http://purl.obolibrary.org/obo/MONDO_0017440 humeral intercalary meromelia|congenital absence of humerus|congenital hypoplasia of humerus ordo_morphological_anomaly MONDO:0017441 congenital absence of upper arm and forearm with hand present biolink:Disease mondo NCIT:C34928|GARD:0012123|ICD10:Q71.1|SCTID:22841008|Orphanet:294975 A congenital malformation in which the upper portion of a limb is either shortened or absent. NCIT:C34928|ORPHA:294975|SNOMEDCT:22841008 http://purl.obolibrary.org/obo/MONDO_0017441 phocomelia|humero-radio-ulnar intercalary transverse meromelia ordo_morphological_anomaly UBERON:0004668 fourth ventricle aperture biolink:AnatomicalEntity mondo One of: the 4th ventricle median or lateral apertures. http://purl.obolibrary.org/obo/UBERON_0004668 aperture of fourth ventricle|aperture of 4th ventricle HGNC:15520 LPAR6 biolink:OntologyClass mondo http://identifiers.org/hgnc/15520 UBERON:0004666 interventricular septum membranous part biolink:AnatomicalEntity mondo The membranous portion of the wall between the two lower chambers of the heart http://purl.obolibrary.org/obo/UBERON_0004666 membranous part of interventricular septum|membranous septum|ventricle membranous septum|pars membranacea septi interventricularis|ventricular membranous septum|membranous interventricular septum|pars membranacea (septi interventricularis)|membranous part interventricular septum|membranous interventricular septum|membranous portion of interventricular septum|cardiac ventricular membranous septum UBERON:0002007 medulla of lymph node biolink:AnatomicalEntity mondo The mdeullary portion of the lymph node, which contains large blood vessels, sinuses and medullary cords that contain antibody-secreting plasma cells. http://purl.obolibrary.org/obo/UBERON_0002007 medulla nodi lymphoidei|lymph node medulla UBERON:0004667 interventricular septum muscular part biolink:AnatomicalEntity mondo The muscular portion of the wall between the two lower chambers of the heart http://purl.obolibrary.org/obo/UBERON_0004667 cardiac ventricular muscular septum|muscular interventricular septum|muscular septum|pars muscularis septi interventricularis|pars muscularis (septi interventricularis)|muscular part of interventricular septum|muscular part interventricular septum|ventricular muscular septum|muscular interventricular septum|septum membranaceum UBERON:0002006 cortex of lymph node biolink:AnatomicalEntity mondo Peripheral portion of the lymph node, underneath the capsule[WP]. http://purl.obolibrary.org/obo/UBERON_0002006 lymph node cortex|cortex nodi lymphoidei UBERON:0004664 aorta tunica adventitia biolink:AnatomicalEntity mondo the outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers http://purl.obolibrary.org/obo/UBERON_0004664 tunica adventitia of aorta UBERON:0002001 joint of rib biolink:AnatomicalEntity mondo Any joint that connects a rib to another structure (or another rib). Examples: costochondral, costovertebral, interchondral, sternocostal joints. http://purl.obolibrary.org/obo/UBERON_0002001 rib joint UBERON:0004665 muscular coat of seminal vesicle biolink:AnatomicalEntity mondo A muscular coat that is part of a seminal vesicle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004665 muscle layer of seminal vesicle|muscular coat of seminal gland|muscular layer of seminal gland|tunica muscularis (vesicula seminalis)|tunica muscularis glandulae vesiculosae UBERON:0004663 aorta wall biolink:AnatomicalEntity mondo An anatomical wall that is part of an aorta, enclosing the luminal space. http://purl.obolibrary.org/obo/UBERON_0004663 aortic wall|wall of aorta HGNC:801 ATP1A3 biolink:OntologyClass mondo http://identifiers.org/hgnc/801 HGNC:800 ATP1A2 biolink:OntologyClass mondo http://identifiers.org/hgnc/800 GO:0010817 regulation of hormone levels biolink:OntologyClass mondo Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. http://purl.obolibrary.org/obo/GO_0010817 UBERON:0016632 isthmus of fallopian tube biolink:AnatomicalEntity mondo http://purl.obolibrary.org/obo/UBERON_0016632 isthmus of oviduct|uterine tube isthmus|isthmus tubae uterinae|isthmus of uterine tube UBERON:0004650 tongue keratinized epithelium biolink:AnatomicalEntity mondo A keratinized stratified squamous epithelium that is part of a tongue. http://purl.obolibrary.org/obo/UBERON_0004650 keratinized epithelium of tongue HGNC:15532 JAM3 biolink:OntologyClass mondo http://identifiers.org/hgnc/15532 GO:0071753 IgM immunoglobulin complex biolink:OntologyClass mondo A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0071753 HGNC:15533 SPRY4 biolink:OntologyClass mondo http://identifiers.org/hgnc/15533 UBERON:0004652 humerus diaphysis biolink:AnatomicalEntity mondo The body or shaft of the humerus is almost cylindrical in the upper half of its extent, prismatic and flattened below, and has three borders and three surfaces. http://purl.obolibrary.org/obo/UBERON_0004652 diaphysis of humerus|shaft of humerus|shaft of the humerus|corpus humeri|body of humerus|humeral diaphysis|medial humerus|body of the humerus CHEBI:47622 acetate ester biolink:ChemicalSubstance mondo Any carboxylic ester where the carboxylic acid component is acetic acid. http://purl.obolibrary.org/obo/CHEBI_47622 Acetyl ester|acetates|acetate|acetate esters|Acetic ester|acetyl esters|an acetyl ester UBERON:0004637 otic capsule biolink:AnatomicalEntity mondo The capsule surrounding the inner ear mechanism. http://purl.obolibrary.org/obo/UBERON_0004637 otic region|otic capsule skeletal element|otic capsule|otic capsule element|periotic|periotic capsule|auditory capsule|otic capsule endochondral element UBERON:0004638 blood vessel endothelium biolink:AnatomicalEntity mondo An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart http://purl.obolibrary.org/obo/UBERON_0004638 HGNC:15505 MBOAT7 biolink:OntologyClass mondo http://identifiers.org/hgnc/15505 HGNC:15506 TSEN34 biolink:OntologyClass mondo http://identifiers.org/hgnc/15506 HGNC:15508 PUS1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15508 UBERON:0004647 liver lobule biolink:AnatomicalEntity mondo the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein http://purl.obolibrary.org/obo/UBERON_0004647 lobuli hepatis|lobuli hepatici|lobules of liver|lobulus hepaticus|hepatic lobule UBERON:0004644 fourth ventricle ependyma biolink:AnatomicalEntity mondo An ependyma that is part of a fourth ventricle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004644 4th ventricle ependyma|ependyma of fourth ventricle UBERON:0004645 urinary bladder urothelium biolink:AnatomicalEntity mondo The epithelial lining of the luminal space of the urinary bladder. http://purl.obolibrary.org/obo/UBERON_0004645 urothelium of urinary bladder|transitional epithelium of urinary bladder|urothelium|transitional epithelium|bladder transitional cell epithelium|urinary bladder transitional epithelium|epithelium of bladder UBERON:0004642 third ventricle ependyma biolink:AnatomicalEntity mondo An ependyma that is part of a third ventricle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004642 3rd ventricle ependyma|ependyma of third ventricle UBERON:0004643 lateral ventricle ependyma biolink:AnatomicalEntity mondo An ependyma that is part of a lateral ventricle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004643 ependyma of lateral ventricle UBERON:0004641 spleen capsule biolink:AnatomicalEntity mondo the connective tissue that surrounds the spleen http://purl.obolibrary.org/obo/UBERON_0004641 tunica fibrosa splenica|tunica fibrosa (splen)(lien)|capsula splenica|capsule of spleen|Malpighian capsule|fibrous capsule of spleen|splenic capsule|fibroelastic coat of spleen UBERON:0016612 auditory hillocks, pharyngeal arch 2 derived biolink:AnatomicalEntity mondo A collection of protruberances derived from pharyngeal arch 2 that develop into the concha, antihelix and antitragus. http://purl.obolibrary.org/obo/UBERON_0016612 UBERON:0016611 auditory hillocks, pharyngeal arch 1 derived biolink:AnatomicalEntity mondo A collection of protruberances derived from pharyngeal arch 1 that develop into the tragus, crus of the helix, and helix. http://purl.obolibrary.org/obo/UBERON_0016611 HGNC:15516 XYLT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15516 CHEBI:35640 adrenergic uptake inhibitor biolink:ChemicalSubstance mondo Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin. http://purl.obolibrary.org/obo/CHEBI_35640 norepinephrine reuptake inhibitor|NRI|adrenergic reuptake inhibitor|adrenergic uptake inhibitors|adrenergic reuptake inhibitors|NERI|norepinephrine reuptake inhibitors|ARI HGNC:15517 XYLT2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15517 HGNC:15512 VANGL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15512 HGNC:15511 VANGL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/15511 MONDO:0005406 gestational diabetes biolink:Disease mondo NCIT:C34942|MESH:D016640|ICD10:O24.4|UMLS:C0085207|SCTID:11687002|DOID:11714|EFO:0004593 Carbohydrate intolerance first diagnosed during pregnancy. DOID:11714|MESH:D016640|UMLS:C0085207|NCIT:C34942|SNOMEDCT:11687002 http://purl.obolibrary.org/obo/MONDO_0005406 gestational diabetes mellitus|maternal gestational diabetes mellitus|diabetes in pregnancy|GDM MONDO:0005405 childhood onset asthma biolink:Disease mondo EFO:0004591|SCTID:233678006|UMLS:C0264408 Asthma that starts in childhood. UMLS:C0264408|SNOMEDCT:233678006 http://purl.obolibrary.org/obo/MONDO_0005405 pediatric asthma|pediatric asthma|asthma of childhood|childhood asthma MONDO:0005408 diabetes mellitus type 2 associated cataract biolink:Disease mondo EFO:0004596 Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism http://purl.obolibrary.org/obo/MONDO_0005408 MONDO:0005407 childhood eosinophilic esophagitis biolink:Disease mondo EFO:0004594 An eosinophilic esophagitis that starts in childhood. http://purl.obolibrary.org/obo/MONDO_0005407 pediatric eosinophilic esophagitis|pediatric eosinophilic esophagitis|eosinophilic esophagitis of childhood MONDO:0005402 lymphoid leukemia (disease) biolink:Disease mondo NCIT:C7539|ICDO:981-983|MESH:D007945|UMLS:C0152271|DOID:10747|SCTID:188726003|EFO:0004289|ICD9:204.20|UMLS:C0023448|HP:0005526|ICDO:9820/3|ICD9:204|ICD9:204.2 A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. SNOMEDCT:188726003|DOID:10747|UMLS:C0152271|NCIT:C7539|UMLS:C0023448|MESH:D007945 http://purl.obolibrary.org/obo/MONDO_0005402 lymphoid leukemia|lymphocytic leukemia|leukemia, LYMPHOCYTIC, malignant|lymphogenous leukemia|subacute lymphoid leukemia MONDO:0005401 colonic neoplasm biolink:Disease mondo MESH:D003110|EFO:0004288|UMLS:C0009375|NCIT:C2953 A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. MESH:D003110|NCIT:C2953|UMLS:C0009375 http://purl.obolibrary.org/obo/MONDO_0005401 tumor of colon|neoplasm of the colon|colonic neoplasm|colon neoplasm (disease)|colonic tumor|tumor of the colon|neoplasm of colon|colon neoplasm|colon tumor MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome biolink:Disease mondo NCIT:C3037|ICD10:R53.82|SCTID:51771007|ICD9:780.79|ICD9:780.71|ICD10:G93.3|MESH:D015673|DOID:8544|UMLS:C0015674|EFO:0004540 A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities. DOID:8544|NCIT:C3037|UMLS:C0015674|MESH:D015673|SNOMEDCT:51771007 http://purl.obolibrary.org/obo/MONDO_0005404 myalgic encephalitis|Postviral fatigue syndrome|chronic fatigue syndrome|systemic exertion intolerance disease|myalgic encephalomyelitis|CFS MONDO:0005403 obsolete neonatal systemic lupus erthematosus biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005403 MONDO:0005400 obsolete ventricular fibrillation biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005400 CHEBI:35618 aromatic ether biolink:ChemicalSubstance mondo Any ether in which the oxygen is attached to at least one aryl substituent. http://purl.obolibrary.org/obo/CHEBI_35618 UBERON:0002040 bronchial artery biolink:AnatomicalEntity mondo A systemic artery that supplies the lung with with oxygenated blood. http://purl.obolibrary.org/obo/UBERON_0002040 rami bronchiales partis thoracicae aortae|bronchial arterial tree|arteriae bronchiales CHEBI:35610 antineoplastic agent biolink:ChemicalSubstance mondo A substance that inhibits or prevents the proliferation of neoplasms. http://purl.obolibrary.org/obo/CHEBI_35610 antineoplastic|anticancer agent|antineoplastic agents|cytostatic|anticancer agents UBERON:0002042 lymphatic vessel endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a lymphatic vessel [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002042 lymph vessel endothelium|endothelium of lymphatic vessel|endothelium of lymph vessel|lymphatic endothelium|lymphatic vessel endothelium UBERON:0002049 vasculature biolink:AnatomicalEntity mondo An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. http://purl.obolibrary.org/obo/UBERON_0002049 vascular network UBERON:0002048 lung biolink:AnatomicalEntity mondo Respiration organ that develops as an outpocketing of the esophagus. http://purl.obolibrary.org/obo/UBERON_0002048 pulmo ECTO:9000364 tetracycline exposure biolink:OntologyClass mondo An exposure to tetracycline. http://purl.obolibrary.org/obo/ECTO_9000364 exposure to tetracycline UBERON:0002047 pontine raphe nucleus biolink:AnatomicalEntity mondo The pontine raphe nucleus is one of the raphe nuclei. It is located in the pontine tegmentum. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002047 raphe pontis|raphe pontis nucleus|raphe (mediana pontina)|raphe of pons|nucleus raphe pontis|nucleus raphes pontis UBERON:0002046 thyroid gland biolink:AnatomicalEntity mondo A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. http://purl.obolibrary.org/obo/UBERON_0002046 thyroid|glandula thyroidea MONDO:0005417 wet macular degeneration biolink:Disease mondo ICD10:H35.32|MESH:D057135|UMLS:C0271084|UMLS:C2237660|ICD9:362.52|SCTID:414173003|DOID:10873|EFO:0004683 A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. SNOMEDCT:414173003|MESH:D057135|UMLS:C0271084|DOID:10873|UMLS:C2237660 http://purl.obolibrary.org/obo/MONDO_0005417 Kuhnt-Junius degeneration|wet AMD|exudative senile macular degeneration of retina|wet senile macular retinal degeneration|Senile macular degeneration, wet|wet ARMD|wet age related macular degeneration|neovascular age-related macular degeneration MONDO:0005416 osteoarthritis, knee biolink:Disease mondo EFO:0004616|COHD:4079750|MESH:D020370 Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019) MESH:D020370 http://purl.obolibrary.org/obo/MONDO_0005416 MONDO:0005419 metamphetamine dependence biolink:Disease mondo EFO:0004701 A drug dependence that is a psychological dependency on the regular use of metamphetamine. http://purl.obolibrary.org/obo/MONDO_0005419 MONDO:0005418 non-compaction cardiomyopathy biolink:Disease mondo EFO:0004686 Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. http://purl.obolibrary.org/obo/MONDO_0005418 MONDO:0005413 cystic fibrosis associated meconium ileus biolink:Disease mondo EFO:0004608 Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis. http://purl.obolibrary.org/obo/MONDO_0005413 cystic fibrosis associated meconium ileum MONDO:0005412 duodenal ulcer (disease) biolink:Disease mondo EFO:0004607|ICD10:K26|DOID:1724|MESH:D004381|SCTID:39755000|NCIT:C26755|HP:0002588|ICD9:532 An ulcer in the duodenal wall. SNOMEDCT:39755000|DOID:1724|NCIT:C26755|MESH:D004381 http://purl.obolibrary.org/obo/MONDO_0005412 curling Ulcer|stress Ulcer|curling's ulcers|duodenal ulcer MONDO:0005415 obsolete acute lung injury biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005415 MONDO:0005414 treatment-refractory schizophrenia biolink:Disease mondo EFO:0004609 Schizophrenia which does not respond to commonly used treatments. http://purl.obolibrary.org/obo/MONDO_0005414 refractory schizophrenia|TRS|treatment-refractory schizophrenia CHEBI:35627 beta-lactam biolink:ChemicalSubstance mondo A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon. http://purl.obolibrary.org/obo/CHEBI_35627 beta-lactams|beta-Lactam|a beta-lactam MONDO:0005411 gallbladder cancer biolink:Disease mondo DOID:3121|EFO:0004606|ICD10:C23|ONCOTREE:GBC|ICD9:156.0|GARD:0009328|ICD9:156.8|UMLS:C0153452|COHD:4181327|NCIT:C7481|SCTID:363353009 A malignant neoplasm involving the gall bladder DOID:3121|NCIT:C7481|UMLS:C0153452|SNOMEDCT:363353009 http://purl.obolibrary.org/obo/MONDO_0005411 gallbladder neoplasm|malignant neoplasm of gallbladder|malignant tumor of gallbladder|gall bladder cancer|localized malignant gallbladder neoplasm|gallbladder Ca|malignant gallbladder neoplasm|malignant tumour of gallbladder|malignant tumor of the gallbladder|malignant gall bladder neoplasm|cancer of gall bladder|malignant neoplasm of the gallbladder|malignant gallbladder tumor|tumor of the gallbladder|malignant neoplasm of gall bladder MONDO:0005410 acute graft vs. host disease biolink:Disease mondo EFO:0004599 Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft. http://purl.obolibrary.org/obo/MONDO_0005410 UBERON:0002030 nipple biolink:AnatomicalEntity mondo Projection of skin containing the outlets for 15-20 lactiferous ducts arranged cylindrically around the tip. http://purl.obolibrary.org/obo/UBERON_0002030 papilla mammaria|papilla mammae|papillary part of breast|papilla of breast|thele|teat|thelium UBERON:0004691 bulbourethral gland secretion biolink:AnatomicalEntity mondo A bodily secretion that is produced by a bulbourethral gland. http://purl.obolibrary.org/obo/UBERON_0004691 bulbo-urethral gland secretion|secretion of bulbo-urethral gland|pre-ejaculate UBERON:0002031 epithelium of bronchus biolink:AnatomicalEntity mondo An epithelium that is part of a bronchus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002031 epithelium of bronchi|bronchial trunk epithelium|epithelium of bronchial trunk|bronchi epithelium|epithelial tissue of bronchi|epithelial tissue of bronchial trunk|bronchi epithelial tissue|bronchial trunk epithelial tissue|bronchus epithelial tissue|bronchial epithelium|bronchus epithelium|epithelial tissue of bronchus CHEBI:35620 vasodilator agent biolink:ChemicalSubstance mondo A drug used to cause dilation of the blood vessels. http://purl.obolibrary.org/obo/CHEBI_35620 vasodilator agents|vasodilator UBERON:0004692 external naris epithelium biolink:AnatomicalEntity mondo An epithelium that is part of an external naris [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004692 CHEBI:35623 anticonvulsant biolink:ChemicalSubstance mondo A drug used to prevent seizures or reduce their severity. http://purl.obolibrary.org/obo/CHEBI_35623 anti-convulsant|anti-convulsants|anticonvulsive agent|Antikonvulsiva|Antiepileptika|Antiepileptikum|anti-convulsive agents|Antikonvulsivum|antiepileptic|antiepileptiques|anticonvulsants|antiepileptique|anti-convulsive agent|antiepileptics|anticonvulsive agents UBERON:0002037 cerebellum biolink:AnatomicalEntity mondo Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. http://purl.obolibrary.org/obo/UBERON_0002037 corpus cerebelli|infratentorial region|epencephalon-1|parencephalon UBERON:0004699 outflow tract endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a outflow tract [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004699 ECTO:9000376 formic acid exposure biolink:OntologyClass mondo An exposure to formic acid. http://purl.obolibrary.org/obo/ECTO_9000376 exposure to formic acid MONDO:0005409 obsolete variant Creutzfeld Jacob disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005409 UBERON:0002033 arrector muscle of hair biolink:AnatomicalEntity mondo A tiny smooth muscle that connects the hair follicle with the dermis. http://purl.obolibrary.org/obo/UBERON_0002033 pilomotor muscle|erectores pilorum|arrector pili muscle|arrector pili smooth muscle|arectores pilorum|arrector pili|arrector pilli muscle|arrector pilli|erector pili|arrector pilorum|arrector pilorum muscle of hair UBERON:0004698 vena cava endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a vena cava [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004698 UBERON:0004695 arterial system smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of an arterial system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004695 UBERON:0002036 striated muscle tissue biolink:AnatomicalEntity mondo Muscle tissue that contains fibers that are divided by transverse bands into striations. http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle UBERON:0004696 venous system smooth muscle biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a venous system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004696 UBERON:0002019 accessory XI nerve biolink:AnatomicalEntity mondo A cranial nerve that originates from neurons in the medulla and in the cervical spinal cord. http://purl.obolibrary.org/obo/UBERON_0002019 accessory XI nerve|spinal accessory nerve|nervus accessorius [XI]|cervical accessory nerve|eleventh cranial nerve|radix spinalis nervus accessorius|accessory nerve [XI]|Willis' nerve|spinal accessory nerve tree|pars spinalis nervus accessorius|accessory spinal nerve|cranial nerve XI|accessory XI|CN-XI|spinal part of accessory nerve|accessory nerve NCBITaxon:68459 Giardiinae organism taxon mondo GC_ID:6 http://purl.obolibrary.org/obo/NCBITaxon_68459 UBERON:0002021 occipital lobe biolink:AnatomicalEntity mondo Posterior part of the cerebral hemisphere (MSH) http://purl.obolibrary.org/obo/UBERON_0002021 regio occipitalis|lobus occipitalis UBERON:0002020 gray matter biolink:AnatomicalEntity mondo A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. http://purl.obolibrary.org/obo/UBERON_0002020 substantia grisea|grey matter|neuronal grey matter|grey matter of neuraxis|grey substance|gray matter|gray matter of neuraxis|grisea|gray mater UBERON:0004681 vestibular system biolink:AnatomicalEntity mondo The sensory system for the sense of balance. http://purl.obolibrary.org/obo/UBERON_0004681 vestibulomotor system|vestibular system|vestibular organ system|equilibrioception system UBERON:0002027 stratum corneum of epidermis biolink:AnatomicalEntity mondo the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells http://purl.obolibrary.org/obo/UBERON_0002027 keratinized squame layer|keratinized squame layer of epidermis|stratum corneum|epidermis stratum corneum|horny layer of epidermis|cornified layer|horny layer|stratum corneum epidermidis UBERON:0002026 stratum spinosum of epidermis biolink:AnatomicalEntity mondo the layer of polyhedral cells in the epidermis found between the stratum granulosum and stratum basale; shrinkage and adhesion of these cells gives a spiny or prickly appearance http://purl.obolibrary.org/obo/UBERON_0002026 prickle cell layer|stratum Malpighii|squamous cell layer of epidermis|stratum spinosum|epidermis prickle cell layer|prickle cell layer of epidermis|epidermis stratum spinosum|Malpighian layer UBERON:0002029 epithelium of gall bladder biolink:AnatomicalEntity mondo The simple columnar epithelial lining of the gall bladder. http://purl.obolibrary.org/obo/UBERON_0002029 epithelium of gallbladder|gall bladder epithelial tissue|epithelial tissue of gallbladder|gallbladder epithelial tissue|epithelial tissue of gall bladder|biliary epithelium|gallbladder epithelium|gall bladder epithelium UBERON:0004688 costo-cervical trunk biolink:AnatomicalEntity mondo The costocervical trunk arises from the upper and back part of the subclavian artery, behind the scalenus anterior on the right side, and medial to that muscle on the left side. Passing backward, it splits into the deep cervical artery and the supreme intercostal artery (or the Highest intercostal artery), which descends behind the pleura in front of the necks of the first and second ribs, and anastomoses with the first aortic intercostal (3rd posterior intercostal artery). As it crosses the neck of the first rib it lies medial to the anterior division of the first thoracic nerve, and lateral to the first thoracic ganglion of the sympathetic trunk. In the first intercostal space, it gives off a branch which is distributed in a manner similar to the distribution of the aortic intercostals. The branch for the second intercostal space usually joins with one from the highest aortic intercostal artery. This branch is not constant, but is more commonly found on the right side; when absent, its place is supplied by an intercostal branch from the aorta. Each intercostal gives off a posterior branch which goes to the posterior vertebral muscles, and sends a small spinal branch through the corresponding intervertebral foramen to the medulla spinalis and its membranes. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0004688 costocervical trunk|truncus costocervicalis|trunk of costocervical artery UBERON:0002028 hindbrain biolink:AnatomicalEntity mondo The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. http://purl.obolibrary.org/obo/UBERON_0002028 rhombencephalon UBERON:0002025 stratum basale of epidermis biolink:AnatomicalEntity mondo the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells http://purl.obolibrary.org/obo/UBERON_0002025 basal cell layer of epidermis|stratum basalis of epidermis|epidermis stratum basale|basal layer of epidermis|basal cell layer of skin|basal epidermal layer|stratum germinosum|epidermis stratum germinativum|epidermal basal stratum|stratum Malpighi|epidermis basal layer|stratum basale|stratum germinosum of epidermis|rete Malphighii|rete Malpighii|Malpighian layer|stratum germinativum|epidermis sensorial layer UBERON:0004684 raphe nuclei biolink:AnatomicalEntity mondo The raphe nuclei are thin plates of cells in and immediately adjacent to the sagittal plane. http://purl.obolibrary.org/obo/UBERON_0004684 raphe cluster|nuclei raphes|raphe of mesenchephalon|raphe nucleus|nuclei raphes|set of raphe nuclei|raphe nuclei set|raphe nuclei UBERON:0002008 cardiac nerve plexus biolink:AnatomicalEntity mondo A plexus of nerves situated at the base of the heart that innervate the heart. http://purl.obolibrary.org/obo/UBERON_0002008 autonomic plexus of heart|plexus cardiacus|heart autonomic nerve plexus|cardiac plexus|autonomic nerve plexus of heart|heart autonomic plexus CHEBI:35605 carbon oxoacid biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35605 oxoacids of carbon|carbon oxoacids CHEBI:35604 carbon oxoanion biolink:ChemicalSubstance mondo A negative ion consisting solely of carbon and oxygen atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n. http://purl.obolibrary.org/obo/CHEBI_35604 oxocarbon anion|carbon oxoanion|carbon oxoanions|oxocarbon anions UBERON:0004670 ependyma biolink:AnatomicalEntity mondo The thin epithelium-like membrane composed of ependymal cells that lines the ventricular system of the brain and the spinal cord. http://purl.obolibrary.org/obo/UBERON_0004670 lamina epithelialis|ependyma of neuraxis|ependymal epithelium UBERON:0002016 pulmonary vein biolink:AnatomicalEntity mondo Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. http://purl.obolibrary.org/obo/UBERON_0002016 venae pulmonales|pulmonary venous tree organ part UBERON:0004679 dentate gyrus molecular layer biolink:AnatomicalEntity mondo The molecular layer of the dentate gyrus that is bounded by the pial surface superficially and the dentate gyrus granule cell layer deep. It is divided into 2 or more sublayers. http://purl.obolibrary.org/obo/UBERON_0004679 molecular layer of dentate gyrus|stratum moleculare gyri dentati|molecular layer of the dentate gyrus|dentate gyrus molecular layer SO:0001217 protein_coding_gene biolink:SequenceFeature mondo A gene that codes for an RNA that can be translated into a protein. http://purl.obolibrary.org/obo/SO_0001217 protein coding gene UBERON:0002015 kidney capsule biolink:AnatomicalEntity mondo the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage http://purl.obolibrary.org/obo/UBERON_0002015 capsula fibrosa renis|renal capsule|capsule of kidney|fibrous capsule of kidney UBERON:0002018 synovial membrane of synovial joint biolink:AnatomicalEntity mondo Soft tissue that lines the non-cartilaginous surfaces within joints with cavities (synovial joints). http://purl.obolibrary.org/obo/UBERON_0002018 synovium of articular capsule of synovial joint|membrana synovialis capsulae articularis|synovial layer|membrana synovialis (capsula articularis)|synovial layer of articular capsule of synovial joint|synovium|stratum synoviale (capsula articularis)|synovial membrane|synovial membrane of articular capsule of synovial joint|stratum synoviale UBERON:0002017 portal vein biolink:AnatomicalEntity mondo A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. http://purl.obolibrary.org/obo/UBERON_0002017 portal venous tree organ part UBERON:0004675 hypoglossal nerve root biolink:AnatomicalEntity mondo A nerve root that extends_fibers_into a hypoglossal nerve. http://purl.obolibrary.org/obo/UBERON_0004675 hypoglossal nerve fiber bundle|root of hypoglossal nerve|hypoglossal nerve fibers|hypoglossal nerve tract|hypoglossal nerve root|central part of hypoglossal nerve|root of hypoglossal nerve|hypoglossal nerve/ root|fibrae nervi hypoglossi|hypoglossal nerve fibers|central part of hypoglossal nerve UBERON:0002012 pulmonary artery biolink:AnatomicalEntity mondo An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary arterial tree organ part|arteria pulmonalis|pulmonary arterial tree|truncus pulmonalis|pulmonary arterial subtree UBERON:0004673 trigeminal nerve root biolink:AnatomicalEntity mondo A nerve root that extends_fibers_into a trigeminal nerve. http://purl.obolibrary.org/obo/UBERON_0004673 trigeminal nerve root|descending trigeminal root|root of trigeminal V nerve|radix descendens nervi trigemini|root of trigeminal nerve|trigeminal neural root UBERON:0004674 facial nerve root biolink:AnatomicalEntity mondo A nerve root that extends_fibers_into a facial nerve. http://purl.obolibrary.org/obo/UBERON_0004674 facial nerve/root|facial nerve fibers|fibrae nervi facialis|root of facial nerve|facial neural root|central part of facial nerve|facial nerve root|facial nerve or its root HGNC:634 AQP2 biolink:OntologyClass mondo http://identifiers.org/hgnc/634 UBERON:0004701 venous system endothelium biolink:AnatomicalEntity mondo An endothelium that is part of a venous system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004701 UBERON:0004702 respiratory system blood vessel endothelium biolink:AnatomicalEntity mondo A blood vessel endothelium that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004702 UBERON:0004700 arterial system endothelium biolink:AnatomicalEntity mondo An endothelium that is part of an arterial system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004700 HGNC:626 APRT biolink:OntologyClass mondo http://identifiers.org/hgnc/626 HGNC:644 AR biolink:OntologyClass mondo http://identifiers.org/hgnc/644 ENVO:02500031 hydrological process biolink:OntologyClass mondo An environmental process which has water - in any of its states - as a participant. http://purl.obolibrary.org/obo/ENVO_02500031 HGNC:613 APOE biolink:OntologyClass mondo http://identifiers.org/hgnc/613 HGNC:610 APOC3 biolink:OntologyClass mondo http://identifiers.org/hgnc/610 GO:0010985 negative regulation of lipoprotein particle clearance biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. http://purl.obolibrary.org/obo/GO_0010985 GO:0010986 positive regulation of lipoprotein particle clearance biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. http://purl.obolibrary.org/obo/GO_0010986 GO:0009991 response to extracellular stimulus biolink:OntologyClass mondo Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. http://purl.obolibrary.org/obo/GO_0009991 ENVO:00010483 environmental material biolink:OntologyClass mondo A portion of environmental material is a fiat object which forms the medium or part of the medium of an environmental system. http://purl.obolibrary.org/obo/ENVO_00010483 portion of environmental material|environmental GO:0019319 hexose biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/GO_0019319 hexose anabolism|hexose synthesis|hexose formation|hexose biosynthesis CHEBI:59560 sapropterin biolink:ChemicalSubstance mondo A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer). http://purl.obolibrary.org/obo/CHEBI_59560 6R-5,6,7,8-tetrahydrobiopterin|(6R)-L-erythro-tetrahydrobiopterin|6R-L-5,6,7,8-tetrahydrobiopterin|sapropterin|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone|(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin|tetrahydrobiopterin|(-)-(6R)-2-amino-6-((1R,2S)-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4(3H)-pteridinone|R-THBP|6R-BH4|sapropterinum|sapropterina|(6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one|5,6,7,8-Tetrahydrobiopterin GO:0010984 regulation of lipoprotein particle clearance biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. http://purl.obolibrary.org/obo/GO_0010984 GO:0019318 hexose metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/GO_0019318 hexose metabolism GO:0071944 cell periphery biolink:OntologyClass mondo The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. http://purl.obolibrary.org/obo/GO_0071944 NCBITaxon:8049 Gadus morhua organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8049 Atlantic cod NCBITaxon:8048 Gadus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8048 Theragra GO:0071941 nitrogen cycle metabolic process biolink:OntologyClass mondo A nitrogen compound metabolic process that contributes to the nitrogen cycle. The nitrogen cycle is a series of metabolic pathways by which nitrogen is converted between various forms and redox states; it encompasses pathways in which nitrogen is acted upon directly, such as nitrification, denitrification, nitrogen fixation, and mineralization. http://purl.obolibrary.org/obo/GO_0071941 HGNC:609 APOC2 biolink:OntologyClass mondo http://identifiers.org/hgnc/609 NCBITaxon:8045 Gadidae organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8045 tadpole cod|Ranicipitidae|cods NCBITaxon:8043 Gadiformes organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_8043 cods and others HGNC:620 APP biolink:OntologyClass mondo http://identifiers.org/hgnc/620 GO:0007346 regulation of mitotic cell cycle biolink:OntologyClass mondo Any process that modulates the rate or extent of progress through the mitotic cell cycle. http://purl.obolibrary.org/obo/GO_0007346 mitotic cell cycle modulation|mitotic cell cycle regulation|regulation of progression through mitotic cell cycle|modulation of mitotic cell cycle progression|regulation of mitotic cell cycle progression|mitotic cell cycle regulator GO:0046997 oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor biolink:OntologyClass mondo Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a flavin. http://purl.obolibrary.org/obo/GO_0046997 HGNC:619 APOL2 biolink:OntologyClass mondo http://identifiers.org/hgnc/619 HGNC:618 APOL1 biolink:OntologyClass mondo http://identifiers.org/hgnc/618 UBERON:0004739 pronephric glomerulus biolink:AnatomicalEntity mondo The glomus forms from the splanchnic intermediate mesoderm and is the vascularized filtration unit, filtering the blood before it enters the tubules. The glomus is external to the nephron and extends over more than one body segment. http://purl.obolibrary.org/obo/UBERON_0004739 corpuscle|pronephric glomeruli|pronephric glomera|glomera|pronephric glomus|glomerulus of pronephros|glomus UBERON:0004736 metanephric glomerulus biolink:AnatomicalEntity mondo glomerulus of the mature vertebrate kidney, or metanephros. http://purl.obolibrary.org/obo/UBERON_0004736 glomerulus of metanephros UBERON:0004737 metanephric collecting duct biolink:AnatomicalEntity mondo A collecting duct of renal tubule that is part of a metanephros [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004737 collecting duct of metanephros|metanephric collecting tubule CHEBI:35571 mancude organic heterocyclic parent biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35571 mancude organic heterocyclic parents|mancude-ring organic heterocyclic parents UBERON:0004742 dentary biolink:AnatomicalEntity mondo The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]. http://purl.obolibrary.org/obo/UBERON_0004742 dentale|dentaries|sur-angulaire|os dentale|dentary bone CHEBI:35573 organic mancude parent biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35573 organic mancude parents|organic mancude-ring parents HGNC:603 APOB biolink:OntologyClass mondo http://identifiers.org/hgnc/603 HGNC:601 APOA2 biolink:OntologyClass mondo http://identifiers.org/hgnc/601 HGNC:600 APOA1 biolink:OntologyClass mondo http://identifiers.org/hgnc/600 UBERON:0004727 cochlear nerve biolink:AnatomicalEntity mondo A nerve in the head that carries signals from the cochlea of the inner ear to the brain. It is part of the vestibulocochlear nerve, the 8th cranial nerve which is found in higher vertebrates; the other portion of the 8th cranial nerve is the vestibular nerve which carries spatial orientation information from the semicircular canals. The cochlear nerve is a sensory nerve, one which conducts to the brain information about the environment, in this case acoustic energy impinging on the tympanic membrane. The cochlear nerve arises from within the cochlea and extends to the brainstem, where its fibers make contact with the cochlear nucleus, the next stage of neural processing in the auditory system[WP]. http://purl.obolibrary.org/obo/UBERON_0004727 auditory nerve|vestibulocochlear VIII nerve cochlear component|vestibulocochlear nerve cochlear component|cochlear component|cochlear root of acoustic nerve|cochlear root of eighth cranial nerve|nervus vestibulocochlearis GO:0010976 positive regulation of neuron projection development biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). http://purl.obolibrary.org/obo/GO_0010976 positive regulation of neurite biosynthesis|positive regulation of neurite formation|positive regulation of neurite growth|positive regulation of neurite development GO:0010977 negative regulation of neuron projection development biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). http://purl.obolibrary.org/obo/GO_0010977 negative regulation of neurite development|negative regulation of neurite growth|negative regulation of neurite formation|growth cone collapse|negative regulation of neurite biosynthesis GO:0010975 regulation of neuron projection development biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). http://purl.obolibrary.org/obo/GO_0010975 regulation of neurite development|regulation of neurite biosynthesis|regulation of neurite formation|regulation of neurite growth GO:0007320 insemination biolink:OntologyClass mondo The introduction of semen or sperm into the genital tract of a female. http://purl.obolibrary.org/obo/GO_0007320 GO:0010970 transport along microtubule biolink:OntologyClass mondo The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. http://purl.obolibrary.org/obo/GO_0010970 microtubule-based transport|establishment of localization by movement along microtubule|movement along microtubule GO:0009987 cellular process biolink:OntologyClass mondo Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0009987 single-organism cellular process|cell physiology|cellular physiological process|cell growth and/or maintenance UBERON:0004734 gastrula biolink:AnatomicalEntity mondo Organism at the gastrula stage. http://purl.obolibrary.org/obo/UBERON_0004734 trilaminar germ|blastocystis trilaminaris|trilaminar disc|tri-laminar disk|gastrula embryo|trilaminar blastoderm|trilaminar blastocyst|trilaminar disk|tri-laminar disc GO:0071953 elastic fiber biolink:OntologyClass mondo An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. http://purl.obolibrary.org/obo/GO_0071953 elastic fibre|elastin fiber UBERON:0004732 segmental subdivision of nervous system biolink:AnatomicalEntity mondo Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. http://purl.obolibrary.org/obo/UBERON_0004732 neuromere UBERON:0004733 segmental subdivision of hindbrain biolink:AnatomicalEntity mondo An organ subunit that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004733 segment of hindbrain|hindbrain segment UBERON:0004731 neuromere biolink:AnatomicalEntity mondo A transverse unitary subdivision of the neural tube that shares a common dorsoventral structure (floor, basal, alar, and roof plates), but each having differential molecular identities and fates; they comprise the secondary prosencephalon, diencephalon (prosomeres), the midbrain (mesomeres), and the hindbrain (rhombomeres). http://purl.obolibrary.org/obo/UBERON_0004731 neural segment|neuromeres|neural metamere|neural tube segment|neural tube metameric segment|neuromere UBERON:0004716 conceptus biolink:AnatomicalEntity mondo The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. http://purl.obolibrary.org/obo/UBERON_0004716 embryo plus adnexa UBERON:0004715 annulus fibrosus disci intervertebralis biolink:AnatomicalEntity mondo The ring of fibrocartilage and fibrous tissue forming the circumference of the intervertebral disc; surrounds the nucleus pulposus, which is prone to herniation when the annulus fibrosus is compromised. http://purl.obolibrary.org/obo/UBERON_0004715 annulus fibrosus of intervertebral disc|annulus fibrosus|anulus fibrosus (diskus intervertebralis)|fibrous ring of intervertebral disc|anulus fibrosus of intervertebral disk GO:0010941 regulation of cell death biolink:OntologyClass mondo Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. http://purl.obolibrary.org/obo/GO_0010941 GO:0010942 positive regulation of cell death biolink:OntologyClass mondo Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. http://purl.obolibrary.org/obo/GO_0010942 GO:0010948 negative regulation of cell cycle process biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. http://purl.obolibrary.org/obo/GO_0010948 CHEBI:35552 heterocyclic organic fundamental parent biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35552 heterocyclic organic fundamental parents|organic heterocyclic fundamental parents|heterocyclic parent hydrides|heterocyclic fundamental parent CHEBI:35555 mancude organic heteromonocyclic parent biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35555 mancude organic heteromonocyclic parents|mancude-ring organic heteromonocyclic parents CHEBI:35554 cardiovascular drug biolink:ChemicalSubstance mondo A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume. http://purl.obolibrary.org/obo/CHEBI_35554 cardiovascular agent|cardiovascular drugs UBERON:0004720 cerebellar vermis biolink:AnatomicalEntity mondo A subregion of the cerebellar cortex, consisting of the most medial zone of the cerebellar cortex, stradding the midline. May be continuous with the lateral cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissures in others (e.g., ventrally) http://purl.obolibrary.org/obo/UBERON_0004720 vermis of cerebellum [I-X]|vermis cerebelli|vermis|vermis of cerebellum|vermal parts of the cerebellum|vermis cerebelli [I-X]|cerebellum vermis|vermal regions UBERON:0004709 pelvic appendage biolink:AnatomicalEntity mondo Paired appendage that consists of the posterior appendicular skeleton and associated soft and hard tissues, but excludes the pelvic girdle and its associated soft and hard tissues. http://purl.obolibrary.org/obo/UBERON_0004709 hindlimb/pelvic fin|posterior appendage|pelvic limb/fin|posterior paired appendage|posterior limb/fin|pelvic appendage UBERON:0004707 pharyngula stage biolink:AnatomicalEntity mondo A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. http://purl.obolibrary.org/obo/UBERON_0004707 phylotypic stage|pharyngula UBERON:0004708 paired limb/fin biolink:AnatomicalEntity mondo An appendage that is part of an appendage girdle complex. http://purl.obolibrary.org/obo/UBERON_0004708 girdle-associated appendage|paired appendage|jointed paired lateral appendage|pelvic/pectoral appendage|pectoral or pelvic appendage|limb/fin|limb or fin UBERON:0004706 bulbus cordis biolink:AnatomicalEntity mondo a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches http://purl.obolibrary.org/obo/UBERON_0004706 primitive right ventricle endocardium UBERON:0004704 bone fossa biolink:AnatomicalEntity mondo A depression or hollow in a bone[WP]. http://purl.obolibrary.org/obo/UBERON_0004704 fossae|depressions|groove|concavity|depression|concavities|fossa GO:0010954 positive regulation of protein processing biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage. http://purl.obolibrary.org/obo/GO_0010954 positive regulation of protein maturation by peptide bond cleavage GO:0010955 negative regulation of protein processing biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage. http://purl.obolibrary.org/obo/GO_0010955 negative regulation of protein maturation by peptide bond cleavage GO:0010952 positive regulation of peptidase activity biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. http://purl.obolibrary.org/obo/GO_0010952 GO:0010959 regulation of metal ion transport biolink:OntologyClass mondo Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0010959 GO:0010957 negative regulation of vitamin D biosynthetic process biolink:OntologyClass mondo Any process that decreases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). http://purl.obolibrary.org/obo/GO_0010957 CHEBI:35568 mancude ring biolink:ChemicalSubstance mondo Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds. http://purl.obolibrary.org/obo/CHEBI_35568 mancude rings|mancude-ring systems|mancunide-ring systems GO:0010950 positive regulation of endopeptidase activity biolink:OntologyClass mondo Any process that increases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. http://purl.obolibrary.org/obo/GO_0010950 GO:0010951 negative regulation of endopeptidase activity biolink:OntologyClass mondo Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. http://purl.obolibrary.org/obo/GO_0010951 CHEBI:59517 DNA synthesis inhibitor biolink:ChemicalSubstance mondo Any substance that inhibits the synthesis of DNA. http://purl.obolibrary.org/obo/CHEBI_59517 DNA synthesis inhibitors GO:0009966 regulation of signal transduction biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/GO_0009966 regulation of signaling pathway|regulation of signalling pathway GO:0009967 positive regulation of signal transduction biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/GO_0009967 up-regulation of signal transduction|up regulation of signal transduction|positive regulation of signalling pathway|activation of signal transduction|stimulation of signal transduction|upregulation of signal transduction|positive regulation of signaling pathway UBERON:0004710 pectoral appendage biolink:AnatomicalEntity mondo Paired appendage that consists of the anterior appendicular skeleton and associated soft and hard tissues, but excludes the pectoral girdle and its associated soft and hard tissues. http://purl.obolibrary.org/obo/UBERON_0004710 forelimb - pectoral fin|anterior appendage|forelimb/pectoral fin|forelimb or pectoral fin|pectoral limb/fin|anterior limb/fin|anterior paired appendage HP:0041051 Ageusia biolink:PhenotypicFeature mondo A rare condition that is characterized by a complete loss of taste function of the tongue. http://purl.obolibrary.org/obo/HP_0041051 Absent sense of taste|Impaired taste sensation|Lost taste GO:0009968 negative regulation of signal transduction biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/GO_0009968 inhibition of signal transduction|negative regulation of signaling pathway|negative regulation of signalling pathway|downregulation of signal transduction|down-regulation of signal transduction|down regulation of signal transduction UBERON:0004711 jugular vein biolink:AnatomicalEntity mondo The jugular veins are veins that bring deoxygenated blood from the head back to the heart via the superior vena cava. http://purl.obolibrary.org/obo/UBERON_0004711 jugular|vena jugularis GO:0071971 extracellular exosome assembly biolink:OntologyClass mondo The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. http://purl.obolibrary.org/obo/GO_0071971 extracellular vesicular exosome assembly MONDO:0017270 autosomal ichthyosis syndrome biolink:Disease mondo UMLS:CN202791|Orphanet:281217 ORPHA:281217|UMLS:CN202791 http://purl.obolibrary.org/obo/MONDO_0017270 ordo_group_of_disorders MONDO:0017271 autosomal ichthyosis syndrome with prominent hair abnormalities biolink:Disease mondo UMLS:CN202792|Orphanet:281222 ORPHA:281222|UMLS:CN202792 http://purl.obolibrary.org/obo/MONDO_0017271 ordo_group_of_disorders MONDO:0017272 autosomal ichthyosis syndrome with prominent neurologics signs biolink:Disease mondo UMLS:CN202793|Orphanet:281238 ORPHA:281238|UMLS:CN202793 http://purl.obolibrary.org/obo/MONDO_0017272 autosomal ichthyosis syndrome with prominent neurologic signs ordo_group_of_disorders MONDO:0005288 intestinal polyp (disease) biolink:Disease mondo EFO:0003855|MESH:D007417|ICD9:569.89|SCTID:254588001|HP:0005266 Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base. SNOMEDCT:254588001|MESH:D007417 http://purl.obolibrary.org/obo/MONDO_0005288 intestinal polyp MONDO:0042233 disseminated candidiasis biolink:Disease mondo GARD:0001076|NCIT:C116812|SCTID:70572005 Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes. SNOMEDCT:70572005|NCIT:C116812 http://purl.obolibrary.org/obo/MONDO_0042233 invasive candidiasis|systemic candidiasis|disseminated candidiasis|disseminated candidosis|systemic candida infections|disseminated candida gard_rare MONDO:0005287 developmental disability biolink:Disease mondo EFO:0003852|MESH:D002658 Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) MESH:D002658 http://purl.obolibrary.org/obo/MONDO_0005287 MONDO:0005289 paranasal sinus neoplasm (disease) biolink:Disease mondo DOID:1350|EFO:0003866|UMLS:C0030470|SCTID:126675008|HP:0030072|NCIT:C7488 A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. UMLS:C0030470|SNOMEDCT:126675008|NCIT:C7488|DOID:1350 http://purl.obolibrary.org/obo/MONDO_0005289 accessory sinus tumor|tumor of paranasal sinus|neoplasm of the accessory sinus|neoplasm of accessory sinus|paranasal sinus neoplasm (disease)|neoplasm of the paranasal sinus|neoplasm of accessory sinus|tumor of paranasal sinus|accessory sinus tumor|paranasal sinus neoplasm|tumor of the accessory sinus|accessory sinus neoplasm|paranasal sinus neoplasms|neoplasm of the paranasal sinus|neoplasm of paranasal sinus|tumor of accessory sinus|paranasal sinus tumor|tumor of accessory sinus|accessory sinus neoplasm|neoplasm of paranasal sinus|tumor of the paranasal sinus|paranasal sinus tumor|neoplasm of the accessory sinus|paranasal sinus neoplasms|paranasal sinus neoplasm MONDO:0005284 chronic progressive multiple sclerosis biolink:Disease mondo EFO:0003840|SCTID:230373008|UMLS:C0393665|MESH:D020528 A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) SNOMEDCT:230373008|UMLS:C0393665|MESH:D020528 http://purl.obolibrary.org/obo/MONDO_0005284 MONDO:0005283 retinal disease biolink:Disease mondo DOID:5679|ICD9:362.9|ICD10:H35.9|COHD:376103|DC:0000592|NCIT:C62601|EFO:0003839|SCTID:29555009|MESH:D012164|ICD9:362.89|UMLS:C0035309|HGNC:8002 Any disease or disorder of the retina. DOID:5679|MESH:D012164|SNOMEDCT:29555009|NCIT:C62601|UMLS:C0035309 http://purl.obolibrary.org/obo/MONDO_0005283 eye disease of retina|retinopathy|retina eye disease MONDO:0005286 palatal neoplasm biolink:Disease mondo SCTID:126805009|UMLS:C0030215|EFO:0003849|NCIT:C4402|MESH:D010157 A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula. MESH:D010157|NCIT:C4402|SNOMEDCT:126805009|UMLS:C0030215 http://purl.obolibrary.org/obo/MONDO_0005286 neoplasm of palate|neoplasm of the palate|secondary palate neoplasm (disease)|tumor of secondary palate|palate tumor|palate neoplasm|tumor of palate|neoplasm of secondary palate|tumor of the palate|secondary palate neoplasm|secondary palate tumor MONDO:0005285 obsolete kidney stone biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005285 MONDO:0005280 prostatitis (disease) biolink:Disease mondo ICD9:601.9|SCTID:9713002|MESH:D011472|ICD10:N41|UMLS:C0033581|DOID:14654|HP:0000024|ICD10:N41.9|COHD:194997|NCIT:C26866|ICD9:601.4|EFO:0003830|ICD9:601|ICD9:601.8 An infectious or non-infectious inflammatory process affecting the prostate gland. DOID:14654|MESH:D011472|SNOMEDCT:9713002|NCIT:C26866|UMLS:C0033581 http://purl.obolibrary.org/obo/MONDO_0005280 prostatitis|inflammation of prostate gland|prostate gland inflammation MONDO:0005282 cutaneous lupus erythematosus biolink:Disease mondo GARD:0006225|DOID:0050169|SCTID:7119001|UMLS:C0024137|NCIT:C26819|MESH:D008178|EFO:0003834 An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. UMLS:C0024137|SNOMEDCT:7119001|NCIT:C26819|DOID:0050169|MESH:D008178 http://purl.obolibrary.org/obo/MONDO_0005282 lupus erythematosus, cutaneous gard_rare MONDO:0005281 gallbladder disease biolink:Disease mondo ICD10:K82|ICD9:575.8|SCTID:39621005|ICD9:575.9|MESH:D005705|OMIMPS:600803|NCIT:C34631|UMLS:C0016977|EFO:0003832|DOID:0060262|ICD10:K82.9 A disease involving the gall bladder. NCIT:C34631|DOID:0060262|SNOMEDCT:39621005|MESH:D005705|UMLS:C0016977 http://purl.obolibrary.org/obo/MONDO_0005281 disease or disorder of gall bladder|disorder of gall bladder|gallbladder disorder|gall bladder disease|gall bladder disease or disorder|Gall bladder disorder|disorder of gall bladder|disease of gall bladder MONDO:0044889 high grade B-cell lymphoma biolink:Disease mondo NCIT:C138211|SCTID:277617004|UMLS:C0456863 A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements. NCIT:C138211|UMLS:C0456863|SNOMEDCT:277617004 http://purl.obolibrary.org/obo/MONDO_0044889 HGBL|high-grade B-cell lymphoma|high grade B-cell lymphoma MONDO:0017277 partial deletion of chromosome 12 biolink:Disease mondo ICD10:Q93.5|Orphanet:282124 ORPHA:282124 http://purl.obolibrary.org/obo/MONDO_0017277 partial deletion of chromosome type 12|partial monosomy of chromosome 12 ordo_group_of_disorders MONDO:0017278 autoimmune polyendocrinopathy biolink:Disease mondo SCTID:41864002|DOID:14040|Orphanet:282196|ICD9:258.8|NCIT:C84576|ICD10:E31.0|UMLS:C4316913|NCIT:C129726|UMLS:C0085409 A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. DOID:14040|NCIT:C129726|ORPHA:282196|UMLS:C4316913|NCIT:C84576|SNOMEDCT:41864002|UMLS:C0085409 http://purl.obolibrary.org/obo/MONDO_0017278 autoimmune polyglandular syndrome(s)|APS|autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome|autoimmune polyglandular syndrome|autoimmune polyendocrine syndrome|Lloyd's syndrome|autoimmune polyendocrinopathy syndrome|autoimmune polyendocrinopathy|autoimmune polyglandular failure ordo_group_of_disorders MONDO:0017279 young-onset Parkinson disease biolink:Disease mondo DOID:0060894|SCTID:715345007|ICD10:G20|Orphanet:2828 Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms. ORPHA:2828|SNOMEDCT:715345007|DOID:0060894 http://purl.obolibrary.org/obo/MONDO_0017279 YOPD|early-onset Parkinson's disease|early-onset Parkinson disease ordo_disease MONDO:0017273 autosomal ichthyosis syndrome with fatal disease course biolink:Disease mondo UMLS:CN202794|Orphanet:281241 ORPHA:281241|UMLS:CN202794 http://purl.obolibrary.org/obo/MONDO_0017273 ordo_group_of_disorders MONDO:0017274 autosomal ichthyosis syndrome with other associated signs biolink:Disease mondo UMLS:CN202795|Orphanet:281244 ORPHA:281244|UMLS:CN202795 http://purl.obolibrary.org/obo/MONDO_0017274 ordo_group_of_disorders MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome biolink:Disease mondo GARD:0000806|MESH:C537797|Orphanet:2819|UMLS:C2931617|SCTID:763403007 Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. ORPHA:2819|MESH:C537797|UMLS:C2931617|SNOMEDCT:763403007 http://purl.obolibrary.org/obo/MONDO_0017275 Bahemuka-Brown syndrome|spastic paraplegia facial cutaneous lesions|Bahemuka Brown syndrome ordo_malformation_syndrome MONDO:0017276 frontotemporal dementia biolink:Disease mondo UMLS:C0338451|COHD:4043378|GARD:0008436|Orphanet:282|MESH:D057180|MedDRA:10068968|UMLS:C0520716|DOID:9255|ICD10:G31.0|NCIT:C84719 Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy. ORPHA:282|UMLS:C0338451|DOID:9255|NCIT:C84719|MESH:D057180|UMLS:C0520716|MEDDRA:10068968 http://purl.obolibrary.org/obo/MONDO_0017276 frontotemporal lobe dementia (FLDEM)|Wilhemsen-Lynch disease|MSTD|multiple system tauopathy with presenile dementia|FTD|frontotemporal lobar degeneration|pallidopontonigral degeneration ordo_group_of_disorders MONDO:0017260 systemic diseases with posterior uveitis biolink:Disease mondo Orphanet:280930|UMLS:CN202778 ORPHA:280930|UMLS:CN202778 http://purl.obolibrary.org/obo/MONDO_0017260 ordo_group_of_disorders MONDO:0017261 systemic diseases with panuveitis biolink:Disease mondo Orphanet:280933|UMLS:CN202779 ORPHA:280933|UMLS:CN202779 http://purl.obolibrary.org/obo/MONDO_0017261 ordo_group_of_disorders MONDO:0005299 brain ischemia biolink:Disease mondo NCIT:C78394|EFO:0003883|ICD9:348.89|SCTID:389100007|UMLS:C0007786|DOID:2316|MESH:D002545 Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage. DOID:2316|UMLS:C0007786|SNOMEDCT:389100007|NCIT:C78394|MESH:D002545 http://purl.obolibrary.org/obo/MONDO_0005299 ischemic disease of brain|cerebrovascular ischemia|brain ischemia|brain ischemic disease|ischemia cerebrovascular|ischemic encephalopathy|ischaemic encephalopathy MONDO:0005298 osteoporosis biolink:Disease mondo OMIM:166710|ICD10:M81|MESH:D010024|ICD9:733.0|EFO:0003882|DOID:11476|ICD10:M81.0|ICD9:733.00|COHD:80502|SCTID:64859006|ICD9:733.09|GARD:0011932|NCIT:C3298 A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). http://identifiers.org/omim/166710|MESH:D010024|DOID:11476|SNOMEDCT:64859006|NCIT:C3298 http://purl.obolibrary.org/obo/MONDO_0005298 osteoporosis, involutional|fracture, hip, susceptibility to MONDO:0005295 intermittent vascular claudication biolink:Disease mondo MESH:D007383|DOID:3669|ICD10:I73.9|ICD9:440.21|UMLS:C0021775|EFO:0003876|SCTID:63491006 A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate. SNOMEDCT:63491006|MESH:D007383|DOID:3669|UMLS:C0021775 http://purl.obolibrary.org/obo/MONDO_0005295 Charcot's syndrome|intermittent claudication|intermittent claudication NOS MONDO:0005294 peripheral vascular disease biolink:Disease mondo MESH:D016491|DOID:341|COHD:321052|ICD9:443.81|NCIT:C35136|EFO:0003875 Any disorder affecting blood flow through the veins or arteries outside of the heart. MESH:D016491|NCIT:C35136|DOID:341 http://purl.obolibrary.org/obo/MONDO_0005294 vascular disease, peripheral|arterial occlusive disease|peripheral vascular disorder|disease, peripheral vascular MONDO:0005297 urethritis (disease) biolink:Disease mondo ICD9:099.40|ICD10:N34.2|ICD9:597.80|HP:0500006|DOID:1343|NCIT:C26904|EFO:0003878|SCTID:84619001|COHD:195862|MESH:D014526 Inflammation of the urethra. SNOMEDCT:84619001|DOID:1343|NCIT:C26904|MESH:D014526 http://purl.obolibrary.org/obo/MONDO_0005297 urethritis|Nongonococcal urethritis|non-gonococcal urethritis|inflammation of urethra|urethra inflammation MONDO:0005296 sleep apnea syndrome biolink:Disease mondo HP:0010535|NCIT:C148023|SCTID:73430006|DOID:0050847|ICD9:780.57|MESH:D012891|ICD10:G47.3|EFO:0003877|SCTID:111489007 A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. DOID:0050847|MESH:D012891|SNOMEDCT:111489007|NCIT:C26884|NCIT:C148023|SNOMEDCT:73430006 http://purl.obolibrary.org/obo/MONDO_0005296 mixed central and obstructive sleep apnea|hypopnea, sleep|SDB|apnea, sleep|sleep-disordered breathing|breathing-related sleep disorder|mixed sleep Apneas|apnea syndromes, sleep|sleep Apneas, mixed|sleep apnea, mixed|sleep apnea syndrome|sleep hypopnea|sleep apnea|hypersomnia with periodic respiration|sleep apnea, mixed central and obstructive|sleep Apneas|sleep hypopneas|mixed sleep apnea|apnea syndrome, sleep|Apneas, sleep|breathing, sleep-disordered|hypopneas, sleep|sleep disordered breathing MONDO:0005291 brain aneurysm biolink:Disease mondo MESH:D002532|UMLS:C0007766|EFO:0003870|DOID:10941 A congenital or acquired aneurysm within the cranium. NCIT:C27208|UMLS:C0007766|DOID:10941|MESH:D002532|NCIT:C34458 http://purl.obolibrary.org/obo/MONDO_0005291 intracranial aneurysm|brain aneurysm UBERON:5006052 digit 5 plus metapodial segment biolink:AnatomicalEntity mondo A subdivision of the autopod consisting of digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_5006052 digit 5|digit V plus metapodial segment|digit 5 digitopodial subdivision|digit 5 ray|digit 5 ( phalanges plus metapodial) plus soft tissue MONDO:0005290 rhabdomyolysis (disease) biolink:Disease mondo SCTID:240131006|ICD9:728.88|HP:0003201|EFO:0003867|MESH:D012206|NCIT:C118318|COHD:4345578 A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. NCIT:C118318|SNOMEDCT:240131006|MESH:D012206 http://purl.obolibrary.org/obo/MONDO_0005290 rhabdomyolysis MONDO:0005293 flatfoot biolink:Disease mondo SCTID:53226007|ICD9:734|MESH:D005413|NCIT:C34616|EFO:0003874 An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground. SNOMEDCT:53226007|MESH:D005413|NCIT:C34616 http://purl.obolibrary.org/obo/MONDO_0005293 flat Foot|fallen Arch MONDO:0005292 colitis (disease) biolink:Disease mondo ICD10:K52.9|DOID:0060180|EFO:0003872|MESH:D003092|HP:0002583|UMLS:C0009319|NCIT:C26723|ICD9:558.9|SCTID:64226004 Inflammation of the colon. DOID:0060180|MESH:D003092|NCIT:C26723|SNOMEDCT:64226004|UMLS:C0009319 http://purl.obolibrary.org/obo/MONDO_0005292 colitis|inflammation of colon|colon inflammation MONDO:0017266 keratinopathic ichthyosis biolink:Disease mondo SCTID:724837004|UMLS:C4511307|Orphanet:281103 ORPHA:281103|UMLS:C4511307|SNOMEDCT:724837004 http://purl.obolibrary.org/obo/MONDO_0017266 KPI ordo_group_of_disorders MONDO:0017267 self-healing collodion baby biolink:Disease mondo Orphanet:281122|SCTID:718632004|ICD10:Q80.2|UMLS:C1855789 Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. UMLS:C1855789|ORPHA:281122|SNOMEDCT:718632004 http://purl.obolibrary.org/obo/MONDO_0017267 SICI|self-improving collodion baby|self-improving congenital ichthyosis|SHCB ordo_disease GO:0032388 positive regulation of intracellular transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. http://purl.obolibrary.org/obo/GO_0032388 up regulation of intracellular transport|activation of intracellular transport|stimulation of intracellular transport|upregulation of intracellular transport|up-regulation of intracellular transport MONDO:0017268 acral self-healing collodion baby biolink:Disease mondo SCTID:718633009|Orphanet:281127|ICD10:Q80.2 Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities. ORPHA:281127|SNOMEDCT:718633009 http://purl.obolibrary.org/obo/MONDO_0017268 acral SHCB ordo_disease ECTO:0000001 exposure to radiation biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to radiation. http://purl.obolibrary.org/obo/ECTO_0000001 radiation exposure MONDO:0017269 X-linked ichthyosis syndrome biolink:Disease mondo Orphanet:281210|MedDRA:10048063 X-linked form of inherited ichthyosis syndromic form. MEDDRA:10048063|UMLS:C0079588|ORPHA:281210 http://purl.obolibrary.org/obo/MONDO_0017269 X-linked inherited ichthyosis syndromic form|inherited ichthyosis syndromic form, X-linked ordo_group_of_disorders GO:0032387 negative regulation of intracellular transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells. http://purl.obolibrary.org/obo/GO_0032387 down-regulation of intracellular transport|down regulation of intracellular transport|downregulation of intracellular transport|inhibition of intracellular transport MONDO:0017262 inherited non-syndromic ichthyosis biolink:Disease mondo Orphanet:281082 A inherited ichthyosis that is not part of a larger syndrome. ORPHA:281082 http://purl.obolibrary.org/obo/MONDO_0017262 isolated inherited ichthyosis|nonsyndromic inherited ichthyosis ordo_group_of_disorders GO:0032386 regulation of intracellular transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of substances within cells. http://purl.obolibrary.org/obo/GO_0032386 MONDO:0017263 inherited ichthyosis syndromic form biolink:Disease mondo Orphanet:281085 A inherited ichthyosis that is part of a larger syndrome. ORPHA:281085 http://purl.obolibrary.org/obo/MONDO_0017263 syndrome associated with inherited ichthyosis|syndromic inherited ichthyosis|syndrome associated with inherited ichthyosis ordo_group_of_disorders ECTO:0000002 exposure to electromagnetic radiation biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to electromagnetic radiation. http://purl.obolibrary.org/obo/ECTO_0000002 electromagnetic radiation exposure MONDO:0017264 syndromic recessive X-linked ichthyosis biolink:Disease mondo UMLS:CN202782|Orphanet:281090|SCTID:717041008|ICD10:Q80.1|UMLS:C4274085 Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome. UMLS:CN202782|ORPHA:281090|SNOMEDCT:717041008|UMLS:C4274085 http://purl.obolibrary.org/obo/MONDO_0017264 syndromic X-linked ichthyosis|syndromic RXLI|syndrome associated with recessive X-linked ichthyosis|syndromic recessive X-linked ichthyosis|recessive X-linked ichthyosis with extracutaneous manifestations|syndrome associated with recessive X-linked ichthyosis ordo_disease MONDO:0017265 autosomal recessive congenital ichthyosis biolink:Disease mondo DOID:0060655|OMIMPS:242300|Orphanet:281097 Autosomal recessive form of inherited ichthyosis. ORPHA:281097|DOID:0060655 http://purl.obolibrary.org/obo/MONDO_0017265 ARCI|autosomal recessive inherited ichthyosis|inherited ichthyosis, autosomal recessive|ichthyosis, congenital, autosomal recessive ordo_group_of_disorders MONDO:0017250 congenital pulmonary airway malformation type 2 biolink:Disease mondo ICD10:Q33.0|Orphanet:280840 ORPHA:280840 http://purl.obolibrary.org/obo/MONDO_0017250 congenital cystic disease of the lung type 2|congenital cystic adenomatous malformation of the lung type 2|congenital cystic adenomatoid malformation of the lung type 2|CPAM type 2|CCAM type 2 ordo_clinical_subtype MONDO:0005269 carotid artery disease biolink:Disease mondo DOID:3407|UMLS:C0007273|NCIT:C84476|ICD9:447.9|SCTID:371160000|EFO:0003781|MESH:D002340 A disease involving the carotid artery segment. SNOMEDCT:371160000|MESH:D002340|UMLS:C0007273|DOID:3407|NCIT:C84476 http://purl.obolibrary.org/obo/MONDO_0005269 disorder of carotid artery|carotid artery segment disease or disorder|carotid artery disorder|disorder of carotid artery segment|disease of carotid artery segment|disorder of carotid artery segment|disease or disorder of carotid artery segment|carotid artery segment disease HGNC:697 ARL6IP1 biolink:OntologyClass mondo http://identifiers.org/hgnc/697 MONDO:0005266 diabetic retinopathy biolink:Disease mondo ICD10:H36.0|UMLS:C0011884|MESH:D003930|DOID:8947|ICD9:362.0|SCTID:4855003|EFO:0003770|NCIT:C34538|COHD:4174977 A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. DOID:8947|MESH:D003930|NCIT:C34538|UMLS:C0011884|SNOMEDCT:4855003 http://purl.obolibrary.org/obo/MONDO_0005266 retinal abnormality - diabetes-related NCBITaxon:213849 Campylobacterales organism taxon mondo GC_ID:11|PMID:16403855 http://purl.obolibrary.org/obo/NCBITaxon_213849 NCBITaxon:10911 Coltivirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10911 MONDO:0005265 inflammatory bowel disease biolink:Disease mondo ICD9:558.9|UMLS:C0021390|NCIT:C3138|KEGG:05321|SCTID:24526004|OMIMPS:266600|EFO:0003767|DOID:0050589|MESH:D015212 A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. SNOMEDCT:24526004|DOID:0050589|UMLS:C0021390|NCIT:C3138|MESH:D015212 http://purl.obolibrary.org/obo/MONDO_0005265 autoimmune bowel disorder|IBD|inflammatory bowel disease NCBITaxon:10912 Rotavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_10912 Rotaviruses MONDO:0005268 obsolete Hashimoto's thyroiditis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005268 MONDO:0005267 heart disease biolink:Disease mondo SCTID:56265001|EFO:0003777|ICD9:429.9|NCIT:C3079|ICD10:I51.9|DOID:114|UMLS:C0018799|COHD:321588|UMLS:CN239852|UMLS:CN236661|ICD9:V47.2|MESH:D006331|ICD9:429.89 A disease involving the heart and/or pericardium. SNOMEDCT:56265001|DOID:114|UMLS:CN239852|UMLS:CN236661|MESH:D006331|UMLS:C0018799|NCIT:C3079 http://purl.obolibrary.org/obo/MONDO_0005267 disorder of heart/pericardium|heart disorder|disease or disorder of heart|heart disease|heart/pericardial disorder|disease of heart|heart disease or disorder|heart/pericardial disease|disorder of heart|heart/pericardial disease or disorder|cardiac disease|heart/pericardial trouble|heart trouble HGNC:691 PHOX2A biolink:OntologyClass mondo http://identifiers.org/hgnc/691 MONDO:0005262 central nervous system cyst (disease) biolink:Disease mondo HP:0030724|NCIT:C4657|EFO:0003760|MESH:D020863|SCTID:277333006|UMLS:C0349606 A congenital or acquired cyst that is present in the central nervous system. SNOMEDCT:277333006|UMLS:C0349606|NCIT:C4657|MESH:D020863 http://purl.obolibrary.org/obo/MONDO_0005262 cyst, suprasellar|CNS cyst|cleft cysts, Rathke's|Rathke cleft cysts|cysts, suprasellar|Rathke's cleft cysts|cyst of the CNS|cyst of CNS|cyst of Central nervous system|cyst of the Central nervous system|Rathkes cleft cysts|suprasellar cysts|central nervous system cyst|cysts, central nervous system|cysts, Rathke cleft|suprasellar cyst MONDO:0005261 pervasive developmental disorder - not otherwise specified biolink:Disease mondo EFO:0003759|DOID:0060042 An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. DOID:0060042 http://purl.obolibrary.org/obo/MONDO_0005261 atypical autism|PDD MONDO:0005264 transient ischemic attack (disease) biolink:Disease mondo ICD10:G45.9|NCIT:C50781|MESH:D002546|DOID:224|EFO:0003764|HP:0002326|SCTID:266257000|ICD9:435|ICD9:435.9|ICD9:435.8 A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. MESH:D002546|DOID:224|NCIT:C50781|SNOMEDCT:266257000 http://purl.obolibrary.org/obo/MONDO_0005264 ischemic attack, transient|transient cerebral ischaemia NOS|TIA - transient ischaemic attack|transient ischemic attack|TIA|transient cerebral ischaemia|attack, transient ischemic|transient ischemic attacks|transient cerebral ischemia|transient cerebral ischemia (disorder) [ambiguous] MONDO:0005263 unipolar depression biolink:Disease mondo EFO:0003761|NCIT:C35094 A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts. NCIT:C35094 http://purl.obolibrary.org/obo/MONDO_0005263 major depressive disorder|major depression GO:0046907 intracellular transport biolink:OntologyClass mondo The directed movement of substances within a cell. http://purl.obolibrary.org/obo/GO_0046907 single organism intracellular transport|single-organism intracellular transport GO:0032370 positive regulation of lipid transport biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0032370 up-regulation of lipid transport|up regulation of lipid transport|activation of lipid transport|stimulation of lipid transport|upregulation of lipid transport MONDO:0005260 autism (disease) biolink:Disease mondo DOID:12849|EFO:0003758|ICD10:F84.0|OMIMPS:209850|MESH:D001321|NCIT:C97161|ICD9:299.0|HP:0000717 A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years. MESH:D001321|NCIT:C97161|DOID:12849 http://purl.obolibrary.org/obo/MONDO_0005260 infantile autism|autistic disorder of childhood onset|autism spectrum disorder|autism|autism, susceptiblity to|autistic disorder|Kanner's syndrome|childhood autism MONDO:0017259 systemic diseases with anterior uveitis biolink:Disease mondo UMLS:CN202777|Orphanet:280926 ORPHA:280926|UMLS:CN202777 http://purl.obolibrary.org/obo/MONDO_0017259 ordo_group_of_disorders GO:0046903 secretion biolink:OntologyClass mondo The controlled release of a substance by a cell or a tissue. http://purl.obolibrary.org/obo/GO_0046903 MONDO:0017255 panuveitis (disease) biolink:Disease mondo COHD:439014|ICD10:H44.11|MedDRA:10033687|DOID:12030|MESH:D015864|NCIT:C84989|ICD9:360.12|SCTID:75614007|ICD10:H44.1|Orphanet:280898|GARD:0008577|EFO:1001082|HP:0012121 A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. MESH:D015864|UMLS:C0030343|DOID:12030|MEDDRA:10033687|SNOMEDCT:75614007|ORPHA:280898|NCIT:C84989 http://purl.obolibrary.org/obo/MONDO_0017255 panuveitis|diffuse uveitis|total uveitis ordo_group_of_disorders MONDO:0017256 idiopathic anterior uveitis biolink:Disease mondo UMLS:C0339315|ICD10:H20.9|ICD10:H20.8|Orphanet:280914|ICD10:H20.2|ICD10:H20.1|ICD10:H20.0|SCTID:231947004 UMLS:C0339315|SNOMEDCT:231947004|ORPHA:280914 http://purl.obolibrary.org/obo/MONDO_0017256 ordo_disease MONDO:0017257 idiopathic posterior uveitis biolink:Disease mondo Orphanet:280917|ICD10:H20.0 Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported. ORPHA:280917 http://purl.obolibrary.org/obo/MONDO_0017257 ordo_disease UBERON:5006048 digit 1 plus metapodial segment biolink:AnatomicalEntity mondo A subdivision of the autopod consisting of digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_5006048 digit 1 ray|digit 1 ( phalanges plus metapodial) plus soft tissue|digit 1|digit I plus metapodial segment|digit 1 digitopodial subdivision MONDO:0017258 idiopathic panuveitis biolink:Disease mondo SCTID:766933000|Orphanet:280921|ICD10:H44.1 Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss. SNOMEDCT:766933000|ORPHA:280921 http://purl.obolibrary.org/obo/MONDO_0017258 ordo_disease MONDO:0017251 congenital pulmonary airway malformation type 3 biolink:Disease mondo Orphanet:280847|ICD10:Q33.0 ORPHA:280847 http://purl.obolibrary.org/obo/MONDO_0017251 congenital cystic adenomatoid malformation of the lung type 3|CPAM type 3|CCAM type 3|congenital cystic disease of the lung type 3|congenital cystic adenomatous malformation of the lung type 3 ordo_clinical_subtype MONDO:0017252 congenital pulmonary airway malformation type 4 biolink:Disease mondo ICD10:Q33.0|Orphanet:280854 ORPHA:280854 http://purl.obolibrary.org/obo/MONDO_0017252 congenital cystic adenomatous malformation of the lung type 4|congenital cystic adenomatoid malformation of the lung type 4|CPAM type 4 ordo_clinical_subtype GO:0019395 fatty acid oxidation biolink:OntologyClass mondo The removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. http://purl.obolibrary.org/obo/GO_0019395 MONDO:0017253 obsolete anterior uveitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017253 MONDO:0017254 obsolete posterior uveitis (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017254 GO:0032369 negative regulation of lipid transport biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0032369 down-regulation of lipid transport|down regulation of lipid transport|inhibition of lipid transport|downregulation of lipid transport MONDO:0005277 migraine disorder biolink:Disease mondo ICD10:G43.9|ICD9:346|EFO:0003821|DOID:6364|OMIMPS:157300|ICD10:G43.909|NCIT:C89715|MESH:D008881|ICD9:346.9|ICD10:G43 A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. DOID:6364|NCIT:C89715|MESH:D008881|NCIT:C113482 http://purl.obolibrary.org/obo/MONDO_0005277 migraine variant|migraine disorder|migraine with or without aura|migraine headache|migraine HP:0031694 Severe adenovirus infection biolink:PhenotypicFeature mondo An unusually severe adenovirus infection. http://purl.obolibrary.org/obo/HP_0031694 MONDO:0005276 dental caries biolink:Disease mondo ICD10:K02.6|COHD:133228|ICD9:521.0|EFO:0003819|DOID:216|ICD9:521.07|ICD9:521.06|ICD10:K02|UMLS:C0011334|SCTID:80967001|ICD9:521.00|MESH:D003731|ICD10:K02.9 The decay of a tooth, in which it becomes softened, discolored, and/or porous. NCIT:C52593|DOID:216|UMLS:C0011334|SNOMEDCT:80967001|MESH:D003731 http://purl.obolibrary.org/obo/MONDO_0005276 dental caries of smooth surface|dental caries extending into pulp|dental caries pit and fissure MONDO:0005279 pulmonary embolism (disease) biolink:Disease mondo ICD10:I26.99|SCTID:59282003|NCIT:C50713|ICD9:415.19|UMLS:C0034065|ICD10:I26|HP:0002204|MESH:D011655|EFO:0003827|DOID:9477|COHD:440417 The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. SNOMEDCT:59282003|NCIT:C50713|MESH:D011655|UMLS:C0034065|DOID:9477 http://purl.obolibrary.org/obo/MONDO_0005279 pulmonary embolism|embolism, pulmonary|pulmonary artery embolism|pulmonary embolus MONDO:0005278 serous adenocarcinoma biolink:Disease mondo NCIT:C40101|DOID:3114|UMLS:C0206701|EFO:0003825 An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma. DOID:3114|UMLS:C0206701|NCIT:C40101 http://purl.obolibrary.org/obo/MONDO_0005278 serous cystadenocarcinoma, NOS (morphologic abnormality)|serous carcinoma|serous adenocarcinoma|serous cystadenocarcinoma HP:0031690 Opportunistic infection biolink:PhenotypicFeature mondo An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. http://purl.obolibrary.org/obo/HP_0031690 MONDO:0005273 obsolete refractory anemia with excess blasts biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005273 MONDO:0005272 refractory anemia biolink:Disease mondo MedDRA:10038269|NCIT:C2872|ICD10:D46.7|SCTID:109996008|ICDO:9980/3|MESH:D000753|ICD9:238.72|UMLS:C0002893|EFO:0003802|Orphanet:98826 A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001) NCIT:C2872|UMLS:C0002893|MESH:D000753|ORPHA:98826|SNOMEDCT:109996008|MEDDRA:10038269 http://purl.obolibrary.org/obo/MONDO_0005272 aregenerative anemia|RA ordo_disease HP:0031691 Severe viral infection biolink:PhenotypicFeature mondo An unusually severe viral infection. http://purl.obolibrary.org/obo/HP_0031691 MONDO:0005275 lung disease biolink:Disease mondo ICD10:J98.4|NCIT:C3198|SCTID:19829001|MESH:D008171|EFO:0003818|ICD9:518.89|DOID:850 A disease involving the lung. MESH:D008171|DOID:850|SNOMEDCT:19829001|NCIT:C3198 http://purl.obolibrary.org/obo/MONDO_0005275 pulmonary disorders|lung disease|lung disorders|pulmonary diseases|lung disease or disorder|pulmonary disease|lung disorder|pulmonary disorder|disorder of lung|disease of lung|disease or disorder of lung|disorder of lung MONDO:0005274 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005274 CHEBI:60531 flavin(1-) biolink:ChemicalSubstance mondo Flavin protonated to pH 7.3 http://purl.obolibrary.org/obo/CHEBI_60531 an oxidized flavin MONDO:0005271 allergic disease biolink:Disease mondo EFO:0003785|ICD10:T78.40|ICD9:995.3|SCTID:609328004|DOID:1205|UMLS:C1527304|NCIT:C114476|MESH:D006967|ICD9:V15.09 An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. NCIT:C114476|DOID:1205|MESH:D006967|SNOMEDCT:609328004|UMLS:C1527304 http://purl.obolibrary.org/obo/MONDO_0005271 disorder of type I hypersensitivity|disorder of type I hypersensitivity|hypersensitivity reaction type I disease|allergic reaction|allergic hypersensitivity disease|allergy|allergic disease or disorder|type I hypersensitivity disease|allergic response|hypersensitivity|allergic form of disease or disorder|allergic form of immune system disease GO:0046916 cellular transition metal ion homeostasis biolink:OntologyClass mondo Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/GO_0046916 MONDO:0005270 obsolete motor neuron disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005270 GO:0046915 transition metal ion transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/GO_0046915 MONDO:0017248 congenital pulmonary airway malformation type 0 biolink:Disease mondo ICD10:Q33.0|Orphanet:280827 ORPHA:280827 http://purl.obolibrary.org/obo/MONDO_0017248 congenital cystic adenomatous malformation of the lung type 0|congenital cystic adenomatoid malformation of the lung type 0|CPAM type 0 ordo_clinical_subtype MONDO:0017249 congenital pulmonary airway malformation type 1 biolink:Disease mondo ICD10:Q33.0|Orphanet:280832 ORPHA:280832 http://purl.obolibrary.org/obo/MONDO_0017249 congenital cystic adenomatous malformation of the lung type 1|congenital cystic adenomatoid malformation of the lung type 1|CPAM type 1|CCAM type 1|congenital cystic disease of the lung type 1 ordo_clinical_subtype MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis biolink:Disease mondo Orphanet:280794|ICD10:Q82.2 Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering. ORPHA:280794 http://purl.obolibrary.org/obo/MONDO_0017244 Pseudoxanthomatous DCM|infiltrative small vesicular DCM|infiltrative small vesicular diffuse cutaneous mastocytosis ordo_clinical_subtype GO:0032368 regulation of lipid transport biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0032368 MONDO:0017245 intralobar congenital pulmonary sequestration biolink:Disease mondo ICD10:Q33.2|Orphanet:280802 ORPHA:280802 http://purl.obolibrary.org/obo/MONDO_0017245 congenital intrapulmonary sequestration|intralobar congenital bronchopulmonary sequestration ordo_clinical_subtype MONDO:0017246 extralobar congenital pulmonary sequestration biolink:Disease mondo ICD10:Q33.2|Orphanet:280811 ORPHA:280811 http://purl.obolibrary.org/obo/MONDO_0017246 congenital extrapulmonary sequestration|extralobar congenital bronchopulmonary sequestration ordo_clinical_subtype HP:0006685 Endocardial fibrosis biolink:PhenotypicFeature mondo MSH:D004719|UMLS:C0553980|SNOMEDCT_US:398716006 The presence of excessive connective tissue in the endocardium. http://purl.obolibrary.org/obo/HP_0006685 Endomyocardial fibrosis MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation biolink:Disease mondo ICD10:Q33.2|Orphanet:280821 ORPHA:280821 http://purl.obolibrary.org/obo/MONDO_0017247 ordo_clinical_subtype MONDO:0017240 acrodysostosis with multiple hormone resistance biolink:Disease mondo Orphanet:280651|ICD10:Q75.4|UMLS:CN202748 UMLS:CN202748|ORPHA:280651 http://purl.obolibrary.org/obo/MONDO_0017240 ordo_disease MONDO:0017241 severe intellectual disability and progressive spastic paraplegia biolink:Disease mondo UMLS:CN202757|Orphanet:280763 UMLS:CN202757|ORPHA:280763 http://purl.obolibrary.org/obo/MONDO_0017241 AP4 deficiency syndrome ordo_disease MONDO:0017242 cutaneous collagenous vasculopathy biolink:Disease mondo UMLS:C4305323|Orphanet:280779|SCTID:718634003|GARD:0012428 Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias. UMLS:C4305323|SNOMEDCT:718634003|ORPHA:280779 http://purl.obolibrary.org/obo/MONDO_0017242 CCV|cutaneus colagenous vasculopathy ordo_disease MONDO:0017243 bullous diffuse cutaneous mastocytosis biolink:Disease mondo ICD10:Q82.2|Orphanet:280785 Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin. ORPHA:280785 http://purl.obolibrary.org/obo/MONDO_0017243 bullous DCM ordo_clinical_subtype MONDO:0032869 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6 biolink:Disease mondo OMIM:618683 http://identifiers.org/omim/618683 http://purl.obolibrary.org/obo/MONDO_0032869 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6 HGNC:678 ARHGDIA biolink:OntologyClass mondo http://identifiers.org/hgnc/678 MONDO:0032867 pancreatic cancer, susceptibility to, 5 biolink:Disease mondo OMIM:618680 http://identifiers.org/omim/618680 http://purl.obolibrary.org/obo/MONDO_0032867 PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 MONDO:0032868 lessel-kubisch syndrome biolink:Disease mondo OMIM:618681 http://identifiers.org/omim/618681 http://purl.obolibrary.org/obo/MONDO_0032868 LESSEL-KUBISCH SYNDROME; LSKB MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 biolink:Disease mondo OMIM:618674 http://identifiers.org/omim/618674 http://purl.obolibrary.org/obo/MONDO_0032865 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5 MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 biolink:Disease mondo OMIM:618677 http://identifiers.org/omim/618677 http://purl.obolibrary.org/obo/MONDO_0032866 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 PATO:0000963 opaque biolink:OntologyClass mondo A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy. http://purl.obolibrary.org/obo/PATO_0000963 cloudy|clouding|non-transparent GO:0007399 nervous system development biolink:OntologyClass mondo The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. http://purl.obolibrary.org/obo/GO_0007399 pan-neural process OIO:inSubset in_subset biolink:OntologyClass mondo http://www.geneontology.org/formats/oboInOwl#inSubset MONDO:0032874 ciliary dyskinesia, primary, 43 biolink:Disease mondo OMIM:618699 http://identifiers.org/omim/618699 http://purl.obolibrary.org/obo/MONDO_0032874 Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 43; CILD43 MONDO:0032875 short stature and microcephaly with genital anomalies biolink:Disease mondo OMIM:618702 http://identifiers.org/omim/618702 http://purl.obolibrary.org/obo/MONDO_0032875 SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA MONDO:0032872 ciliary dyskinesia, primary, 42 biolink:Disease mondo OMIM:618695 http://identifiers.org/omim/618695 http://purl.obolibrary.org/obo/MONDO_0032872 Ciliary Dyskinesia, Primary, 42, Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 42; CILD42 MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement biolink:Disease mondo OMIM:618697 http://identifiers.org/omim/618697 http://purl.obolibrary.org/obo/MONDO_0032873 RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities biolink:Disease mondo OMIM:618687 http://identifiers.org/omim/618687 http://purl.obolibrary.org/obo/MONDO_0032870 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA GO:0032353 negative regulation of hormone biosynthetic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. http://purl.obolibrary.org/obo/GO_0032353 down regulation of hormone biosynthetic process|inhibition of hormone biosynthetic process|down-regulation of hormone biosynthetic process|downregulation of hormone biosynthetic process GO:0032352 positive regulation of hormone metabolic process biolink:OntologyClass mondo Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving any hormone. http://purl.obolibrary.org/obo/GO_0032352 stimulation of hormone metabolic process|upregulation of hormone metabolic process|up-regulation of hormone metabolic process|up regulation of hormone metabolic process|positive regulation of hormone metabolism|activation of hormone metabolic process MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile biolink:Disease mondo OMIM:618688 http://identifiers.org/omim/618688 http://purl.obolibrary.org/obo/MONDO_0032871 LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 GO:0032351 negative regulation of hormone metabolic process biolink:OntologyClass mondo Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving any hormone. http://purl.obolibrary.org/obo/GO_0032351 down-regulation of hormone metabolic process|down regulation of hormone metabolic process|negative regulation of hormone metabolism|downregulation of hormone metabolic process|inhibition of hormone metabolic process GO:0032350 regulation of hormone metabolic process biolink:OntologyClass mondo Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone. http://purl.obolibrary.org/obo/GO_0032350 regulation of hormone metabolism NCBITaxon:46919 Whitewater Arroyo mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_46919 Whitewater Arroyo virus MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia biolink:Disease mondo OMIM:618718 http://identifiers.org/omim/618718 http://purl.obolibrary.org/obo/MONDO_0032878 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH MONDO:0032879 megabladder, congenital biolink:Disease mondo OMIM:618719 http://identifiers.org/omim/618719 http://purl.obolibrary.org/obo/MONDO_0032879 MEGABLADDER, CONGENITAL; MGBL HGNC:685 ARHGEF6 biolink:OntologyClass mondo http://identifiers.org/hgnc/685 MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures biolink:Disease mondo OMIM:618707 http://identifiers.org/omim/618707 http://purl.obolibrary.org/obo/MONDO_0032876 Ito-Raymond Syndrome|NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures biolink:Disease mondo OMIM:618709 http://identifiers.org/omim/618709 http://purl.obolibrary.org/obo/MONDO_0032877 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS GO:0046930 pore complex biolink:OntologyClass mondo Any small opening in a membrane that allows the passage of gases and/or liquids. http://purl.obolibrary.org/obo/GO_0046930 pore-forming toxin activity|channel-forming toxin activity|pore PATO:0000973 porosity biolink:OntologyClass mondo A structure quality inhering in a bearer by virtue of the bearer's disposition to admit the passage of gas or liquid through pores or interstices. http://purl.obolibrary.org/obo/PATO_0000973 GO:0046939 nucleotide phosphorylation biolink:OntologyClass mondo The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside. http://purl.obolibrary.org/obo/GO_0046939 PATO:0000970 permeability biolink:OntologyClass mondo A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion). http://purl.obolibrary.org/obo/PATO_0000970 MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type biolink:Disease mondo OMIM:618728 http://identifiers.org/omim/618728 http://purl.obolibrary.org/obo/MONDO_0032885 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST MONDO:0032886 Liang-Wang syndrome biolink:Disease mondo OMIM:618729 http://identifiers.org/omim/618729 http://purl.obolibrary.org/obo/MONDO_0032886 LIANG-WANG SYNDROME; LIWAS MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures biolink:Disease mondo OMIM:618725 http://identifiers.org/omim/618725 http://purl.obolibrary.org/obo/MONDO_0032883 INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies biolink:Disease mondo OMIM:618727 http://identifiers.org/omim/618727 http://purl.obolibrary.org/obo/MONDO_0032884 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB MONDO:0032881 premature ovarian failure 16 biolink:Disease mondo OMIM:618723 http://identifiers.org/omim/618723 http://purl.obolibrary.org/obo/MONDO_0032881 PREMATURE OVARIAN FAILURE 16; POF16 MONDO:0032882 Heyn-Sproul-Jackson syndrome biolink:Disease mondo OMIM:618724 http://identifiers.org/omim/618724 http://purl.obolibrary.org/obo/MONDO_0032882 Microcephaly, Short Stature, and Impaired Intellectual Development|HEYN-SPROUL-JACKSON SYNDROME; HESJAS MONDO:0032880 developmental and epileptic encephalopathy, 82 biolink:Disease mondo OMIM:618721 http://identifiers.org/omim/618721 http://purl.obolibrary.org/obo/MONDO_0032880 epileptic encephalopathy, early infantile, 82|DEE82|Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of|Got2 Deficiency|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82; EIEE82 MONDO:0017291 reversible cerebral vasoconstriction syndrome biolink:Disease mondo GARD:0012768|ICD10:I67.8|SCTID:700467001|Orphanet:284388|ICD9:437.8|UMLS:C3544214 Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. UMLS:C3544214|ORPHA:284388|SNOMEDCT:700467001 http://purl.obolibrary.org/obo/MONDO_0017291 RCVS gard_rare|ordo_clinical_syndrome MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung biolink:Disease mondo ICD10:C34.8|UMLS:C1266047|UMLS:CN202865|ICDO:8333/3|UMLS:C1708045|ICD10:C34.3|ICD10:C34.2|NCIT:C45509|Orphanet:284395|ICD10:C34.1 Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss. UMLS:C1708045|UMLS:CN202865|UMLS:C1266047|ORPHA:284395|NCIT:C45509 http://purl.obolibrary.org/obo/MONDO_0017292 fetal adenocarcinoma|pulmonary adenocarcinoma of fetal type|well-differentiated fetal lung adenocarcinoma|fetal lung adenocarcinoma|pulmonary endodermal tumor resembling fetal lung|WDFA ordo_disease MONDO:0017293 obsolete small cell carcinoma of the bladder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017293 MONDO:0017294 glycerol kinase deficiency, infantile form biolink:Disease mondo Orphanet:284408|ICD10:E74.8 Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy. ORPHA:284408 http://purl.obolibrary.org/obo/MONDO_0017294 ordo_clinical_subtype MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome biolink:Disease mondo OMIM:618732 http://identifiers.org/omim/618732 http://purl.obolibrary.org/obo/MONDO_0032889 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity biolink:Disease mondo OMIM:618730 http://identifiers.org/omim/618730 http://purl.obolibrary.org/obo/MONDO_0032887 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS|Vandervore-Schot Syndrome MONDO:0017290 familial intrahepatic cholestasis biolink:Disease mondo ICD10:K83.1|UMLS:CN227107|UMLS:CN239338|Orphanet:284385|ICD9:576.8|SCTID:74162007 An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome. UMLS:CN227107|UMLS:CN239338|ORPHA:284385|SNOMEDCT:74162007 http://purl.obolibrary.org/obo/MONDO_0017290 hereditary intrahepatic cholestasis ordo_group_of_disorders MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies biolink:Disease mondo OMIM:618731 http://identifiers.org/omim/618731 http://purl.obolibrary.org/obo/MONDO_0032888 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC MONDO:0044874 refractory cytopenia of childhood biolink:Disease mondo NCIT:C82596|ONCOTREE:RCYC The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. NCIT:C82596 http://purl.obolibrary.org/obo/MONDO_0044874 refractory cytopenia of childhood|RCC GO:0046943 carboxylic acid transmembrane transporter activity biolink:OntologyClass mondo Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/GO_0046943 GO:0046942 carboxylic acid transport biolink:OntologyClass mondo The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/GO_0046942 MONDO:0044873 childhood myelodysplastic syndrome biolink:Disease mondo NCIT:C68744 An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. NCIT:C68744 http://purl.obolibrary.org/obo/MONDO_0044873 childhood MDS|myelodysplastic syndrome|childhood myelodysplastic syndrome MONDO:0044876 drug hypersensitivity syndrome biolink:Disease mondo NCIT:C112208 A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs. NCIT:C112208 http://purl.obolibrary.org/obo/MONDO_0044876 Drug reaction with eosinophilia and Systemic symptoms|Drug hypersensitivity syndrome|DHS|dress MONDO:0044875 coronary microvascular disease biolink:Disease mondo NCIT:C84478 A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom. NCIT:C84478 http://purl.obolibrary.org/obo/MONDO_0044875 microvascular endothelium heart disease|heart disease of microvascular endothelium|coronary microvascular disease|CMD PATO:0000984 porous biolink:OntologyClass mondo A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices. http://purl.obolibrary.org/obo/PATO_0000984 MONDO:0044870 acquired torsion dystonia biolink:Disease mondo SCTID:433493000|UMLS:C1719382 An instance of torsion dystonia that is acquired during the lifetime of the individual. SNOMEDCT:433493000|UMLS:C1719382 http://purl.obolibrary.org/obo/MONDO_0044870 acquired torsion dystonia MONDO:0044872 dysautonomia biolink:Disease mondo NCIT:C53439 An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis. NCIT:C53439 http://purl.obolibrary.org/obo/MONDO_0044872 dysautonomia MONDO:0044871 dystonia, focal, task-specific biolink:Disease mondo OMIM:611284|SCTID:230330004|MESH:C566973 SNOMEDCT:230330004|http://identifiers.org/omim/611284|MESH:C566973 http://purl.obolibrary.org/obo/MONDO_0044871 musician's dystonia|task-specific dystonia|musician's cramp|dystonia, focal, task-specific; FTSD|focal task-specific dystonia|task-specific focal dystonia|occupational cramp|FTSD|focal hand dystonia|occupational dystonia|dystonia, focal, task-specific GO:0071902 positive regulation of protein serine/threonine kinase activity biolink:OntologyClass mondo Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity. http://purl.obolibrary.org/obo/GO_0071902 GO:0019359 nicotinamide nucleotide biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. http://purl.obolibrary.org/obo/GO_0019359 nicotinamide nucleotide synthesis|nicotinamide nucleotide biosynthesis|nicotinamide nucleotide formation|nicotinamide nucleotide anabolism GO:0071901 negative regulation of protein serine/threonine kinase activity biolink:OntologyClass mondo Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity. http://purl.obolibrary.org/obo/GO_0071901 GO:0071900 regulation of protein serine/threonine kinase activity biolink:OntologyClass mondo Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity. http://purl.obolibrary.org/obo/GO_0071900 MONDO:0032896 spermatogenic failure 42 biolink:Disease mondo OMIM:618745 http://identifiers.org/omim/618745 http://purl.obolibrary.org/obo/MONDO_0032896 SPERMATOGENIC FAILURE 42; SPGF42 MONDO:0017299 acute annular outer retinopathy biolink:Disease mondo Orphanet:284460 ORPHA:284460 http://purl.obolibrary.org/obo/MONDO_0017299 AAOR ordo_disease MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities biolink:Disease mondo OMIM:618748 http://identifiers.org/omim/618748 http://purl.obolibrary.org/obo/MONDO_0032897 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy biolink:Disease mondo OMIM:618741 http://identifiers.org/omim/618741 http://purl.obolibrary.org/obo/MONDO_0032894 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA MONDO:0032895 developmental and epileptic encephalopathy, 83 biolink:Disease mondo OMIM:618744 http://identifiers.org/omim/618744 http://purl.obolibrary.org/obo/MONDO_0032895 epileptic encephalopathy, early infantile, 83|DEE83|Barakat-Perenthaler Syndrome|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83 MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis biolink:Disease mondo OMIM:618736 http://identifiers.org/omim/618736 http://purl.obolibrary.org/obo/MONDO_0032892 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS MONDO:0017295 glycerol kinase deficiency, juvenile form biolink:Disease mondo ICD10:E74.8|Orphanet:284411 Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. ORPHA:284411 http://purl.obolibrary.org/obo/MONDO_0017295 ordo_clinical_subtype MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures biolink:Disease mondo OMIM:618737 http://identifiers.org/omim/618737 http://purl.obolibrary.org/obo/MONDO_0032893 PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS MONDO:0017296 glycerol kinase deficiency, adult form biolink:Disease mondo ICD10:E74.8|Orphanet:284414 Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults. ORPHA:284414 http://purl.obolibrary.org/obo/MONDO_0017296 ordo_clinical_subtype MONDO:0017297 CLIPPERS biolink:Disease mondo GARD:0010779|UMLS:C3854437|Orphanet:284448 UMLS:C3854437|ORPHA:284448 http://purl.obolibrary.org/obo/MONDO_0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ordo_disease MONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures biolink:Disease mondo OMIM:618733 http://identifiers.org/omim/618733 http://purl.obolibrary.org/obo/MONDO_0032890 NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES; NMOAS HGNC:649 ARCN1 biolink:OntologyClass mondo http://identifiers.org/hgnc/649 MONDO:0032891 aneurysm, intracranial berry, 12 biolink:Disease mondo OMIM:618734 http://identifiers.org/omim/618734 http://purl.obolibrary.org/obo/MONDO_0032891 ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12 MONDO:0017298 acute zonal occult outer retinopathy biolink:Disease mondo MESH:C538223|GARD:0008640|SCTID:312929003|UMLS:C0730298|ICD9:362.10|Orphanet:284454 Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy. UMLS:C0730298|MESH:C538223|SNOMEDCT:312929003|ORPHA:284454 http://purl.obolibrary.org/obo/MONDO_0017298 AZOOR gard_rare|ordo_disease MONDO:0017280 demodicidosis biolink:Disease mondo UMLS:C3854478|GARD:0001802|Orphanet:283|ICD10:B88.0 Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings. UMLS:C3854478|ORPHA:283 http://purl.obolibrary.org/obo/MONDO_0017280 Demodex disease or disorder|Demodicosis|Demodex infectious disease|Demodex caused disease or disorder gard_rare|ordo_disease MONDO:0017281 renal caliceal diverticuli-deafness syndrome biolink:Disease mondo Orphanet:2838|UMLS:CN202834 UMLS:CN202834|ORPHA:2838 http://purl.obolibrary.org/obo/MONDO_0017281 ordo_malformation_syndrome MONDO:0017282 alveolar echinococcosis biolink:Disease mondo ICD10:B67.7|ICD10:B67.6|DOID:12148|MESH:C536591|UMLS:C0152069|ICD9:122.7|ICD10:B67.5|GARD:0000207|Orphanet:284|UMLS:C0948954|MedDRA:10053042|SCTID:21009004 Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice. DOID:12148|UMLS:C0152069|SNOMEDCT:21009004|MEDDRA:10053042|UMLS:C0948954|ORPHA:284|MESH:C536591 http://purl.obolibrary.org/obo/MONDO_0017282 Echinococcus multilocularis infection|Echinococcus multilocularis disease or disorder|Echinococcus multilocularis infectious disease|echinococcosis|Echinococcus multilocularis caused disease or disorder|alveolococcosis|multilocular hydatid|small fox tapeworm|echinococcus multilocularis infection ordo_disease|gard_rare MONDO:0017283 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion biolink:Disease mondo UMLS:CN202845|Orphanet:284169|ICD10:Q83.5 ORPHA:284169|UMLS:CN202845 http://purl.obolibrary.org/obo/MONDO_0017283 10p12p11 microdeletion syndrome|monosomy 10p11.21p12.31|deletion 10p11.21p12.31|Del(10)(p11.21p12.31) ordo_clinical_subtype MONDO:0032898 spermatogenic failure 43 biolink:Disease mondo OMIM:618751 http://identifiers.org/omim/618751 http://purl.obolibrary.org/obo/MONDO_0032898 SPERMATOGENIC FAILURE 43; SPGF43 HGNC:663 ARG1 biolink:OntologyClass mondo http://identifiers.org/hgnc/663 MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant biolink:Disease mondo OMIM:618752 http://identifiers.org/omim/618752 http://purl.obolibrary.org/obo/MONDO_0032899 Shwachman-Diamond Syndrome-Like|NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8|Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities HP:0031650 Abnormal atrioventricular valve physiology biolink:PhenotypicFeature mondo Any functional defect of the mitral or tricuspid valve. http://purl.obolibrary.org/obo/HP_0031650 MONDO:0044885 tonsillar lipoma biolink:Disease mondo NCIT:C5989|UMLS:C1336764 A benign adipose tissue neoplasm of the tonsils. UMLS:C1336764|NCIT:C5989 http://purl.obolibrary.org/obo/MONDO_0044885 tonsillar lipoma|tonsil lipoma|lipoma of tonsil|lipoma of the tonsil MONDO:0044884 tonsillar lymphoma biolink:Disease mondo UMLS:C1336765|NCIT:C5918 A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas. UMLS:C1336765|NCIT:C5918 http://purl.obolibrary.org/obo/MONDO_0044884 Primary tonsillar lymphoma|lymphoma of tonsil|lymphoma of the tonsil|tonsillar lymphoma|tonsil lymphoma HP:0031652 Abnormal aortic valve physiology biolink:PhenotypicFeature mondo http://purl.obolibrary.org/obo/HP_0031652 MONDO:0044887 central nervous system non-hodgkin lymphoma biolink:Disease mondo SCTID:448254007|NCIT:C114779|UMLS:C2213246 A non-Hodgkin lymphoma that arises from the central nervous system. NCIT:C114779|SNOMEDCT:448254007|UMLS:C2213246 http://purl.obolibrary.org/obo/MONDO_0044887 non-Hodgkin lymphoma of central nervous system|Primary Central nervous system non-Hodgkin lymphoma|central nervous system non-Hodgkin lymphoma|Central nervous system non-Hodgkin lymphoma GO:0046952 ketone body catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA. http://purl.obolibrary.org/obo/GO_0046952 ketone body degradation|ketolysis|utilization of ketone bodies|ketone body catabolism|ketone body breakdown HP:0031653 Abnormal heart valve physiology biolink:PhenotypicFeature mondo Any functional abnormality of a cardiac valve. http://purl.obolibrary.org/obo/HP_0031653 MONDO:0044881 hematopoietic and lymphoid cell neoplasm biolink:Disease mondo NCIT:C27134 A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. NCIT:C27134 http://purl.obolibrary.org/obo/MONDO_0044881 hematological tumor|hematopoietic malignancy, NOS|hematopoietic, Including myeloma|hematological neoplasm|hematopoietic cell tumor|hematopoietic cancer|hematopoietic and lymphoid cell neoplasm|hematologic malignancy|hematopoietic tumor|malignant hematologic neoplasm|hematologic neoplasm|malignant hematopoietic neoplasm|hematopoietic neoplasms including Lymphomas|hematopoietic and lymphoid neoplasms|hematopoietic neoplasm|HEMOLYMPHORETICULAR tumor, malignant|hematologic cancer GO:0046950 cellular ketone body metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism. http://purl.obolibrary.org/obo/GO_0046950 cellular ketone body metabolism PATO:0000998 viscous biolink:OntologyClass mondo A viscosity quality inhering in a bearer by virtue of the bearer's having viscosity. http://purl.obolibrary.org/obo/PATO_0000998 MONDO:0044880 cystic tumor of the pancreas biolink:Disease mondo ONCOTREE:PACT http://purl.obolibrary.org/obo/MONDO_0044880 GO:0034982 mitochondrial protein processing biolink:OntologyClass mondo The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. http://purl.obolibrary.org/obo/GO_0034982 mitochondrial protein modification MONDO:0044878 adult germ cell tumor biolink:Disease mondo NCIT:C114777 A germ cell tumor that occurs during adulthood. NCIT:C114777 http://purl.obolibrary.org/obo/MONDO_0044878 germ cell tumor|Adult germ cell tumor|germ cell tumor of adults MONDO:0044877 paraneoplastic cerebellar degeneration biolink:Disease mondo NCIT:C4685 A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus. NCIT:C4685 http://purl.obolibrary.org/obo/MONDO_0044877 paraneoplastic cerebellar Degeneration PATO:0000992 viscosity biolink:OntologyClass mondo A physical quality of a liquid inhering in a bearer by virtue of the bearer's disposition to internal resistance to flow. http://purl.obolibrary.org/obo/PATO_0000992 MONDO:0044879 pancreatic mucinous-cystic neoplasm biolink:Disease mondo ONCOTREE:MCN|NCIT:C41247 A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation. NCIT:C41247 http://purl.obolibrary.org/obo/MONDO_0044879 Pancreatic mucinous cystic neoplasm|mucinous cystic neoplasm|Pancreatic mucinous-cystic neoplasm MONDO:0017288 DICER1 syndrome biolink:Disease mondo Orphanet:284343|UMLS:CN202862|UMLS:C3839822|NCIT:C123317|UMLS:CN240512|EFO:0009068|SCTID:702411003|GARD:0010734|ICD9:199.1 A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter. UMLS:CN240512|UMLS:C3839822|SNOMEDCT:702411003|NCIT:C123317|UMLS:CN202862|ORPHA:284343 http://purl.obolibrary.org/obo/MONDO_0017288 PPBFTDS|DICER1-related pleuropulmonary blastoma|pleuropulmonary blastoma familial tumor susceptibility syndrome|PPB familial tumor susceptibility syndrome|pleuro-pulmonary blastoma familial tumor susceptibility syndrome|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome|DICER1 syndrome gard_rare|ordo_clinical_subtype MONDO:0017289 fetal lung interstitial tumor biolink:Disease mondo UMLS:CN202863|Orphanet:284362 ORPHA:284362|UMLS:CN202863 http://purl.obolibrary.org/obo/MONDO_0017289 flit|immature interstitial mesenchymal tumor ordo_clinical_subtype MONDO:0017284 Xp22.13p22.2 duplication syndrome biolink:Disease mondo Orphanet:284180|UMLS:CN202846|ICD10:Q99.8 UMLS:CN202846|ORPHA:284180 http://purl.obolibrary.org/obo/MONDO_0017284 Duplication Xp22|dup(X)(p22)|dup(X)(p22.13p22.2) ordo_malformation_syndrome MONDO:0017285 penoscrotal transposition (disease) biolink:Disease mondo MESH:C536650|HP:0100600|UMLS:C1868854|ICD10:Q55.8|SCTID:312005008|GARD:0004273|MedDRA:10067287|Orphanet:2842|NCIT:C99010 Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases). NCIT:C99010|MESH:C536650|SNOMEDCT:312005008|UMLS:C1868854|MEDDRA:10067287|ORPHA:2842 http://purl.obolibrary.org/obo/MONDO_0017285 congenital penoscrotal transposition|Prepenile scrotum|congenital transposition of the penis|penoscrotal transposition ordo_morphological_anomaly MONDO:0017286 tempi syndrome biolink:Disease mondo NCIT:C121656|SCTID:718614004|UMLS:C3854394|Orphanet:284227|GARD:0010962 TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. UMLS:C3854394|SNOMEDCT:718614004|ORPHA:284227|NCIT:C121656 http://purl.obolibrary.org/obo/MONDO_0017286 telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting|telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome ordo_clinical_syndrome|gard_rare GO:0019362 pyridine nucleotide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. http://purl.obolibrary.org/obo/GO_0019362 pyridine nucleotide metabolism MONDO:0017287 IgG4-related disease biolink:Disease mondo Orphanet:284264|UMLS:C3203653|NCIT:C95992|GARD:0012521|MedDRA:10071569 A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. MEDDRA:10071569|UMLS:C3203653|NCIT:C95992|ORPHA:284264 http://purl.obolibrary.org/obo/MONDO_0017287 hyper-IgG4 disease|multifocal idiopathic fibrosclerosis|IgG4-related autoimmune disease|IgG4-associated disease|IgG4-syndrome|IgG4-related systemic disease|IgG4-related systemic sclerosing disease|IgG4-positive multiorgan lymphoproliferative syndrome|multifocal fibrosclerosis|IgG4-related sclerosing disease|Immunoglobulin G4-related sclerosing disease|systemic IgG4-related sclerosing syndrome|systemic IgG4-related plasmacytic syndrome ordo_group_of_disorders GO:0019363 pyridine nucleotide biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. http://purl.obolibrary.org/obo/GO_0019363 pyridine nucleotide anabolism|pyridine nucleotide synthesis|pyridine nucleotide biosynthesis|pyridine nucleotide formation MONDO:0005329 obsolete vascular sarcoma biolink:Disease mondo A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries. http://purl.obolibrary.org/obo/MONDO_0005329 blood vessel sarcoma MONDO:0005328 eye disease biolink:Disease mondo UMLS:C0015397|ICD10:H44|SCTID:371405004|ICD9:379.8|NCIT:C26767|DOID:5614|ICD10:H44.9|ICD9:360|MESH:D005128|ICD9:360.9|COHD:375252|ICD9:379.90|ICD9:360.89|EFO:0003966 A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. DOID:5614|SNOMEDCT:371405004|MESH:D005128|NCIT:C26767|UMLS:C0015397 http://purl.obolibrary.org/obo/MONDO_0005328 disorder of eye proper|disorder of eyeball|eyeball of camera-type eye disease or disorder|disorder of globe|disorder of eyeball of camera-type eye|disorder of eyeball of camera-type eye|disease or disorder of eyeball of camera-type eye|eye disease|disease of eye|disease of eyeball of camera-type eye|disorder of eye|eyeball of camera-type eye disease|disease of eyeball|eye disorder MONDO:0007988 autosomal dominant primary microcephaly biolink:Disease mondo ICD10:Q02|MESH:C537323|Orphanet:2514|DOID:14725|GARD:0003605|OMIM:156580|UMLS:C0220693 Autosomal dominant form of microcephaly (disease). MESH:C537323|DOID:14725|UMLS:C0220693|http://identifiers.org/omim/156580|ORPHA:2514 http://purl.obolibrary.org/obo/MONDO_0007988 microcephaly, autosomal dominant|autosomal dominant microcephaly|microcephaly with autosomal dominant inheritance|microcephaly autosomal dominant|microcephaly (disease), autosomal dominant|autosomal dominant primary microcephaly gard_rare|ordo_etiological_subtype MONDO:0005325 radius fracture biolink:Disease mondo MESH:D011885|SCTID:12676007|EFO:0003957 Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. NCIT:C99039|SNOMEDCT:12676007|MESH:D011885 http://purl.obolibrary.org/obo/MONDO_0005325 MONDO:0005324 seasonal allergic rhinitis biolink:Disease mondo COHD:4280726|SCTID:367498001|MESH:D006255|EFO:0003956|NCIT:C92188 Allergic rhinitis caused by outdoor allergens. NCIT:C92188|MESH:D006255|SNOMEDCT:367498001 http://purl.obolibrary.org/obo/MONDO_0005324 seasonal allergic rhinitis|hay fever MONDO:0007989 congenital microcoria biolink:Disease mondo GARD:0003635|Orphanet:566|MESH:C537550|OMIM:156600|SCTID:400962005 2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma. MESH:C537550|SNOMEDCT:400962005|ORPHA:566|http://identifiers.org/omim/156600|UMLS:C1303009 http://purl.obolibrary.org/obo/MONDO_0007989 Mcor|chromosome 13Q32 deletion syndrome|pinhole pupils|congenital miosis|microcoria, congenital|miosis, congenital ordo_malformation_syndrome|gard_rare MONDO:0007986 metatropic dysplasia biolink:Disease mondo MESH:C537356|Orphanet:2635|ICD10:Q77.8|GARD:0003571|OMIM:156530|SCTID:22764001 Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. http://identifiers.org/omim/156530|SNOMEDCT:22764001|ORPHA:2635|UMLS:C0265281|MESH:C537356 http://purl.obolibrary.org/obo/MONDO_0007986 Metatropic dysplasia, nonlethal dominant|Metatropic dwarfism|metatropic dysplasia ordo_disease|gard_rare MONDO:0005327 hip fracture biolink:Disease mondo EFO:0003964|SCTID:263225007|MESH:D006620 Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side. MESH:D006620|SNOMEDCT:263225007|NCIT:C26794 http://purl.obolibrary.org/obo/MONDO_0005327 MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies biolink:Disease mondo OMIM:618828 http://identifiers.org/omim/618828 http://purl.obolibrary.org/obo/MONDO_0032942 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES; NEDMIDF MONDO:0007987 Kniest dysplasia biolink:Disease mondo SCTID:53974002|NCIT:C125594|DOID:0080045|GARD:0006841|UMLS:C0265279|MESH:C537207|ICD9:756.9|OMIM:156550|ICD10:Q77.7|Orphanet:485 Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). UMLS:C0265279|ORPHA:485|NCIT:C125594|http://identifiers.org/omim/156550|SNOMEDCT:53974002|DOID:0080045|MESH:C537207 http://purl.obolibrary.org/obo/MONDO_0007987 Kniest dysplasia ordo_disease|gard_rare MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies biolink:Disease mondo OMIM:618829 http://identifiers.org/omim/618829 http://purl.obolibrary.org/obo/MONDO_0032943 NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES; NEDMACE MONDO:0005326 sunburn biolink:Disease mondo ICD9:692.71|SCTID:403194002|MESH:D013471|EFO:0003958|ICD10:L55 An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering. MESH:D013471|NCIT:C3395|SNOMEDCT:403194002 http://purl.obolibrary.org/obo/MONDO_0005326 MONDO:0005321 Fuchs' endothelial dystrophy biolink:Disease mondo Orphanet:98974|UMLS:C0016781|ICD10:H18.5|ICD10:H18.51|OMIMPS:136800|NCIT:C84721|DOID:11555|EFO:0003946|UMLS:CN207231|DC:0000643|SCTID:193839007|MESH:D005642 Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. ORPHA:98974|UMLS:CN207231|MESH:D005642|DOID:11555|NCIT:C84721|UMLS:C0016781|SNOMEDCT:193839007 http://purl.obolibrary.org/obo/MONDO_0005321 corneal dystrophy, Fuchs endothelial|Fuchs' corneal dystrophy|FECD|FCED|late hereditary endothelial dystrophy|Fuchs' endothelial corneal dystrophy|Fuchs endothelial dystrophy|Endoepithelial corneal dystrophy|Fuchs endothelial corneal dystrophy ordo_disease MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome biolink:Disease mondo OMIM:156510|Orphanet:2504|ICD10:Q77.8|UMLS:CN201864|GARD:0003568 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. http://identifiers.org/omim/156510|ORPHA:2504|UMLS:CN201864 http://purl.obolibrary.org/obo/MONDO_0007984 MDMHB|metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly; MDMHB|metaphyseal dysplasia maxillary hypoplasia brachydactyly|metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly ordo_malformation_syndrome|gard_rare MONDO:0005320 tibia fracture biolink:Disease mondo COHD:440543|SCTID:31978002|EFO:0003944|MESH:D013978 Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. NCIT:C99083|MESH:D013978|SNOMEDCT:31978002 http://purl.obolibrary.org/obo/MONDO_0005320 bone fracture of tibia|tibia bone fracture other_hierarchy MONDO:0007985 metatarsus varus, type 1 biolink:Disease mondo MESH:C563585|UMLS:C1834968|OMIM:156520 MESH:C563585|http://identifiers.org/omim/156520|UMLS:C1834968 http://purl.obolibrary.org/obo/MONDO_0007985 metatarsus varus, type I MONDO:0007982 metaphyseal chondrodysplasia, Jansen type biolink:Disease mondo GARD:0000079|NCIT:C131868|MESH:C537564|SCTID:24629003|DOID:0080020|OMIM:156400|ICD10:Q78.5|Orphanet:33067|UMLS:C0265295 Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. NCIT:C131868|ORPHA:33067|http://identifiers.org/omim/156400|SNOMEDCT:24629003|DOID:0080020|UMLS:C0265295|MESH:C537564 http://purl.obolibrary.org/obo/MONDO_0007982 metaphyseal chondrodysplasia, murk Jansen type|metaphyseal chondrodysplasia, Jansen type|Jansen metaphyseal chondrodysplasia|Jansen's metaphyseal chondrodysplasia|Jansen type metaphyseal chondrodysplasia|Jansen metaphyseal dysostosis|metaphyseal chondrodysplasia murk Jansen type|murk Jansen type metaphyseal chondrodysplasia|Jansen disease ordo_disease|gard_rare MONDO:0005323 bacterial sexually transmitted disease biolink:Disease mondo UMLS:C0036917|MESH:D015231|EFO:0003955 Bacterial diseases that are potentially transmitted or propagated by sexual conduct. UMLS:C0036917|MESH:D015231 http://purl.obolibrary.org/obo/MONDO_0005323 MONDO:0005322 ulna fracture biolink:Disease mondo EFO:0003950|MESH:D014458|COHD:4182555|SCTID:54556006 Fractures of the larger bone of the forearm. SNOMEDCT:54556006|MESH:D014458 http://purl.obolibrary.org/obo/MONDO_0005322 bone fracture of ulna|ulna bone fracture MONDO:0007983 Schmid metaphyseal chondrodysplasia biolink:Disease mondo DOID:0080021|SCTID:29248006|Orphanet:174|MESH:C537352|OMIM:156500|GARD:0007029|ICD10:Q78.5 Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. SNOMEDCT:29248006|http://identifiers.org/omim/156500|DOID:0080021|MESH:C537352|UMLS:C0265289|ORPHA:174 http://purl.obolibrary.org/obo/MONDO_0007983 spondylometaphyseal dysplasia, Japanese type|Schmid type metaphyseal dysplasia|metaphyseal chondrodysplasia, Schmid type; MCDS|metaphyseal chondrodysplasia, Schmid type|metaphyseal chondrodysplasia Schmid type|Japanese type spondylometaphyseal dysplasia|MCDS ordo_disease MONDO:0007980 metachromasia of fibroblasts biolink:Disease mondo OMIM:156300 http://identifiers.org/omim/156300 http://purl.obolibrary.org/obo/MONDO_0007980 metachromasia of fibroblasts MONDO:0007981 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a biolink:Disease mondo UMLS:C1835007|OMIM:156310|MESH:C563587 MESH:C563587|UMLS:C1835007|http://identifiers.org/omim/156310 http://purl.obolibrary.org/obo/MONDO_0007981 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type a|metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a MONDO:0020959 Mansonella ozzardi infection biolink:Disease mondo UMLS:C0016089|ICD9:125.5|NCIT:C34612|SCTID:30865009 An infection that is caused by the organism Mansonella ozzardi. SNOMEDCT:30865009|UMLS:C0016089|NCIT:C34612 http://purl.obolibrary.org/obo/MONDO_0020959 Mansonella Ozzardi Infection|filariasis ozzardi|Filariasis ozzardi|ozzardian filariasis|mansonella ozzardi infection|Mansonella ozzardi infection|Ozzardian filariasis|mansonella ozzardi infection MONDO:0044926 oropharyngeal carcinoma biolink:Disease mondo NCIT:C9105 Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx. NCIT:C9105 http://purl.obolibrary.org/obo/MONDO_0044926 oropharyngeal carcinoma|oropharyngeal throat cancer|oropharynx carcinoma|oropharyngeal cancer|cancer of oropharynx|cancer of the oropharynx|carcinoma of oropharynx|carcinoma of the oropharynx MONDO:0017318 phakomatosis pigmentovascularis biolink:Disease mondo Orphanet:2875|ICD9:709.09|GARD:0004312|MESH:C537894|ICD10:Q85.8|SCTID:403545005 ORPHA:2875|MESH:C537894|SNOMEDCT:403545005 http://purl.obolibrary.org/obo/MONDO_0017318 Phacomatosis pigmentovascularis|PPv|phakomatosis pigmentovascularis|association of cutaneous vascular malformations and different pigmentary disorders|port-wine stain with oculocutaneous melanosis ordo_disease MONDO:0044925 oral cavity carcinoma biolink:Disease mondo UMLS:C0151546|NCIT:C8990 A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. NCIT:C8990|UMLS:C0151546 http://purl.obolibrary.org/obo/MONDO_0044925 oral cavity cancer|oral cavity carcinoma|mouth carcinoma|carcinoma of the oral cavity|carcinoma of mouth|carcinoma of oral cavity MONDO:0017319 hereditary elliptocytosis biolink:Disease mondo NCIT:C35882|GARD:0006621|ICD9:282.1|SCTID:178935009|DC:0000130|DOID:2373|ICD10:D58.1|COHD:22288|Orphanet:288|MedDRA:10014490|UMLS:C0013902|MESH:D004612 Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. ORPHA:288|NCIT:C35882|UMLS:C0013902|DOID:2373|MEDDRA:10014490|SNOMEDCT:178935009|MESH:D004612|NCIT:C36293 http://purl.obolibrary.org/obo/MONDO_0017319 congenital elliptocytosis|Hereditary ovalocytosis|he|ovalocytosis ordo_disease MONDO:0017314 Ehlers-Danlos syndrome, vascular type biolink:Disease mondo GARD:0002082|SCTID:17025000|Orphanet:286|NCIT:C125699|ICD10:Q79.6 Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. ORPHA:286|NCIT:C125699|SNOMEDCT:17025000 http://purl.obolibrary.org/obo/MONDO_0017314 vEDS|Ehlers-Danlos syndrome type 4|Ehlers-Danlos syndrome type IV (formerly)|EDS type 4|EDS IV|EDS IV (formerly)|EDS type 4 (formerly)|Ehlers Danlos syndrome, sack-Barabas type|Ehlers-Danlos syndrome type 4 (formerly)|Ehlers-Danlos syndrome type IV|vascular EDS|sack-Barabas syndrome|Ehlers Danlos syndrome, arterial type|EDS4 (formerly)|Ehlers Danlos syndrome, ecchymotic type|Ehlers-Danlos syndrome, type IV|vascular Ehlers-Danlos syndrome ordo_disease|clingen MONDO:0019977 parkinsonism with dementia of Guadeloupe biolink:Disease mondo Orphanet:97355|ICD10:F02.3*|UMLS:CN206908|ICD10:G20+|SCTID:715737004 Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. ORPHA:97355|SNOMEDCT:715737004|UMLS:CN206908 http://purl.obolibrary.org/obo/MONDO_0019977 ordo_disease MONDO:0017315 short stature-webbed neck-heart disease syndrome biolink:Disease mondo SCTID:721073008|MESH:C535613|GARD:0000583|ICD10:Q87.8|UMLS:C2930950|Orphanet:2865 Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents. ORPHA:2865|SNOMEDCT:721073008|MESH:C535613|UMLS:C2930950 http://purl.obolibrary.org/obo/MONDO_0017315 Al Gazali Aziz Salem syndrome|Al Gazali-Aziz-Salem syndrome|short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease|short stature, webbed neck, heart disease ordo_malformation_syndrome MONDO:0044921 atypical lymphoproliferative disorder biolink:Disease mondo SCTID:20991001|NCIT:C7764|UMLS:C0272217 NCIT:C7764|UMLS:C0272217|SNOMEDCT:20991001 http://purl.obolibrary.org/obo/MONDO_0044921 atypical lymphoproliferative disorder|atypical lymphoid hyperplasia MONDO:0019976 dementia pugilistica biolink:Disease mondo MESH:D020208|Orphanet:97353|UMLS:CN206907|SCTID:230283005|ICD10:F01.8 Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma. ORPHA:97353|SNOMEDCT:230283005|UMLS:CN206907|MESH:D020208 http://purl.obolibrary.org/obo/MONDO_0019976 punch-drunk syndrome|chronic traumatic encephalopathy|Boxer's dementia ordo_disease MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome biolink:Disease mondo GARD:0004841|ICD10:Q87.1|SCTID:716192009|Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). ORPHA:2866|SNOMEDCT:716192009 http://purl.obolibrary.org/obo/MONDO_0017316 short stature deafness neutrophil dysfunction|thong-Douglas-Ferrante syndrome|thong Douglas Ferrante syndrome ordo_malformation_syndrome MONDO:0019979 renal hypoplasia, unilateral biolink:Disease mondo Orphanet:97361|ICD10:Q60.3 Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present. ORPHA:97361|UMLS:C0431691 http://purl.obolibrary.org/obo/MONDO_0019979 ordo_clinical_subtype MONDO:0044924 obsolete acute myeloid leukemia with mutated CEBPA biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0044924 MONDO:0019978 Robinow syndrome biolink:Disease mondo OMIMPS:268310|DOID:0060254|UMLS:CN776872|UMLS:C0265205|NCIT:C85048|Orphanet:97360|GARD:0000312|ICD10:Q87.1 Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. UMLS:C0265205|ORPHA:97360|NCIT:C85048|DOID:0060254|UMLS:CN776872 http://purl.obolibrary.org/obo/MONDO_0019978 Robinow dwarfism|Robinow-Silverman-Smith syndrome|acral dysostosis with facial and genital abnormalities|Covesdem syndrome (formerly)|costovertebral segmentation defect with mesomelia (formerly)|mesomelic dwarfism-small genitalia syndrome|fetal face syndrome ordo_malformation_syndrome MONDO:0017317 phakomatosis pigmentokeratotica biolink:Disease mondo Orphanet:2874|MESH:C537893|SCTID:723455009|UMLS:C2931658|ICD10:Q85.8|GARD:0004311 Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. ORPHA:2874|SNOMEDCT:723455009|MESH:C537893|UMLS:C2931658 http://purl.obolibrary.org/obo/MONDO_0017317 Phacomatosis pigmentokeratotica|organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies ordo_malformation_syndrome MONDO:0044923 acute myeloid leukemia with mutated NPM1 biolink:Disease mondo NCIT:C82431|UMLS:C2826177|ONCOTREE:AMLNPM1 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. NCIT:C82431|UMLS:C2826177 http://purl.obolibrary.org/obo/MONDO_0044923 acute myeloid leukemia with mutated NPM1|acute myeloid leukemia with cytoplasmic nucleophosmin|NPMc+ AML|AML with mutated NPM1 MONDO:0019973 persistent placoid maculopathy biolink:Disease mondo Orphanet:97341|UMLS:C4304823|SCTID:719297006 Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. UMLS:C4304823|SNOMEDCT:719297006|ORPHA:97341 http://purl.obolibrary.org/obo/MONDO_0019973 ordo_disease MONDO:0017310 Marfan and Marfan-related disorder biolink:Disease mondo UMLS:CN227112|Orphanet:284993 ORPHA:284993|UMLS:CN227112 http://purl.obolibrary.org/obo/MONDO_0017310 ordo_group_of_disorders MONDO:0017311 rare disease with thoracic aortic aneurysm and aortic dissection biolink:Disease mondo ICD10:I71.2|ICD10:I71.1|UMLS:CN202889|Orphanet:285014 ORPHA:285014|UMLS:CN202889 http://purl.obolibrary.org/obo/MONDO_0017311 ordo_group_of_disorders|clingen MONDO:0019972 dural sinus malformation biolink:Disease mondo ICD10:Q28.3|Orphanet:97339 ORPHA:97339 http://purl.obolibrary.org/obo/MONDO_0019972 cranial dural arteriovenous malformations|cranial dural arteriovenous fistula ordo_morphological_anomaly MONDO:0017312 Perrault syndrome biolink:Disease mondo UMLS:CN239459|SCTID:93466004|Orphanet:2855|ICD10:Q87.8|DOID:0050857|OMIMPS:233400|GARD:0002542|UMLS:C0685838 Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit. DOID:0050857|UMLS:C0685838|SNOMEDCT:93466004|UMLS:CN239459|ORPHA:2855 http://purl.obolibrary.org/obo/MONDO_0017312 gonadal dysgenesis, XX type, with deafness|XX gonodal dysgenesis-deafness syndrome ordo_disease MONDO:0019975 pellagra biolink:Disease mondo MedDRA:10029400|DOID:8457|ICD9:265.2|Orphanet:97352|COHD:434310|UMLS:C0030783|SCTID:418279001|ICD10:E52|EFO:0008570|UMLS:C4317126|MESH:D010383|GARD:0010014 Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management. ORPHA:97352|MEDDRA:10029400|MESH:D010383|DOID:8457|SNOMEDCT:418279001|UMLS:C4317126|UMLS:C0030783 http://purl.obolibrary.org/obo/MONDO_0019975 pellagra|niacin-tryptophan deficiency|niacin deficiency gard_rare|ordo_disease MONDO:0017313 disorder of folate metabolism and transport biolink:Disease mondo UMLS:CN227114|Orphanet:285657 UMLS:CN227114|ORPHA:285657 http://purl.obolibrary.org/obo/MONDO_0017313 ordo_group_of_disorders MONDO:0019974 obsolete postencephalitic parkinsonism biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019974 MONDO:0019971 melanoma of soft tissue biolink:Disease mondo Orphanet:97338 ORPHA:97338 http://purl.obolibrary.org/obo/MONDO_0019971 clear cell sarcoma of the tendons and aponeuroses ordo_disease MONDO:0019970 Sinding-Larsen-Johansson disease biolink:Disease mondo MedDRA:10063585|ICD10:M92.4|Orphanet:97337|UMLS:CN206897 Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella. UMLS:CN206897|UMLS:C1504517|UMLS:C0264096|ORPHA:97337|MEDDRA:10063585 http://purl.obolibrary.org/obo/MONDO_0019970 Osteochondrosis of patella|aseptic necrosis of patella ordo_disease MONDO:0005339 androgenetic alopecia biolink:Disease mondo ICD9:704.09|DOID:0050801|GARD:0009269|SCTID:87872006|EFO:0004191 DOID:0050801|SNOMEDCT:87872006 http://purl.obolibrary.org/obo/MONDO_0005339 male pattern baldness|androgenic alopecia|alopecia androgenetica, male pattern baldness|androgenetic alopecia MONDO:0005336 myopathy biolink:Disease mondo ICD9:359.8|NCIT:C101216|ICD10:G72.9|ICD9:359.9|EFO:0004145|DOID:423|SCTID:129565002|ICD10:M62.9|ICD10:M60-M63|UMLS:C0026848|ICD9:728.3 A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. UMLS:C0026848|NCIT:C101216|SNOMEDCT:129565002|DOID:423 http://purl.obolibrary.org/obo/MONDO_0005336 MONDO:0007999 holoprosencephaly 2 biolink:Disease mondo NCIT:C74995|DOID:0110872|OMIM:157170|MESH:C563579|UMLS:C1834877 A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. DOID:0110872|NCIT:C74995|MESH:C563579|http://identifiers.org/omim/157170|UMLS:C1834877 http://purl.obolibrary.org/obo/MONDO_0007999 HPE2|holoprosencephaly caused by mutation in SIX3|holoprosencephaly 2|SIX3 holoprosencephaly|holoprosencephaly type 2|holoprosencephaly 2; HPE2 MONDO:0005335 colorectal neoplasm biolink:Disease mondo MESH:D015179|EFO:0004142|NCIT:C2956 A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. MESH:D015179|NCIT:C2956 http://purl.obolibrary.org/obo/MONDO_0005335 colorectal tumor|neoplasm of the large bowel|neoplasm of colorectum|neoplasm of large bowel|large bowel neoplasm|colorectum tumor|large intestinal neoplasm|colorectum neoplasm|large bowel tumor|colorectal neoplasm|tumor of the large bowel|tumor of colorectum|colorectum neoplasm (disease)|tumor of large bowel|large intestine tumor|large intestine neoplasm MONDO:0005338 open-angle glaucoma biolink:Disease mondo MESH:D005902|SCTID:84494001|UMLS:C0017612|ICD10:H40.13|ICD9:365.13|SCTID:46168003|COHD:441284|ICD10:H40.10|ICD9:365.10|ICD9:365.1|NCIT:C34641|EFO:0004190|DOID:1067|ICD10:H40.1 Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. NCIT:C34641|SNOMEDCT:84494001|DOID:1067|UMLS:C0017612|MESH:D005902|SNOMEDCT:46168003 http://purl.obolibrary.org/obo/MONDO_0005338 pigmentary glaucoma|glaucoma simplex|wide-angle glaucoma|open angle glaucoma MONDO:0007997 microspherophakia with hernia biolink:Disease mondo MESH:C537468|OMIM:157150|UMLS:C1834881|GARD:0009462 http://identifiers.org/omim/157150|UMLS:C1834881|MESH:C537468 http://purl.obolibrary.org/obo/MONDO_0007997 microspherophakia with hernia gard_rare MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome biolink:Disease mondo GARD:0005481|ICD10:Q87.5|Orphanet:2551|MESH:C536540|UMLS:C1834880|OMIM:157151 Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. MESH:C536540|http://identifiers.org/omim/157151|UMLS:C1834880|ORPHA:2551 http://purl.obolibrary.org/obo/MONDO_0007998 Verloes-Van Maldergem-de Marneffe syndrome|dominantly inherited bone dysplasia with severe eye involvement|Verloes Van Maldergem Marneffe syndrome|microspherophakia-metaphyseal dysplasia ordo_malformation_syndrome MONDO:0005337 obsolete neuropathy biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005337 MONDO:0007995 MCOPCT1 biolink:Disease mondo MESH:C563582|UMLS:C1834919|GARD:0009610|OMIM:156850 MESH:C563582|http://identifiers.org/omim/156850|UMLS:C1834919 http://purl.obolibrary.org/obo/MONDO_0007995 microphthalmia, isolated, with cataract 1; MCOPCT1|congenital cataract with microphthalmia|microphthalmia, isolated, with cataract 1|MCOPCT1|cataract, congenital, with microphthalmia|microphthalmia with cataract 1 MONDO:0005332 biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005332 MONDO:0020950 viral eye infection biolink:Disease mondo UMLS:C0015407|SCTID:312132001|MESH:D015828 Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus. UMLS:C0015407|SNOMEDCT:312132001|MESH:D015828 http://purl.obolibrary.org/obo/MONDO_0020950 Infection, Viral Ocular|OCULAR INFECT VIRAL|Ocular Infection, Viral|Infections, Viral Eye|Infections, Viral Ocular|Viral Ocular Infection|Viral Eye Infections|EYE INFECT VIRAL|Infection, Viral Eye|Ocular Infections, Viral|Eye Infection, Viral|VIRAL EYE INFECT|Viral Eye Infection|Viral Ocular Infections|Eye Infections, Viral|viral eye infection|Viral eye infection MONDO:0005331 obsolete acrocephalosyndactylia biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005331 MONDO:0007996 microphthalmia, isolated, with corectopia biolink:Disease mondo MESH:C563581|OMIM:156900|UMLS:C1834918 MESH:C563581|UMLS:C1834918|http://identifiers.org/omim/156900 http://purl.obolibrary.org/obo/MONDO_0007996 microphthalmia with myopia and corectopia|MCOPCR|microphthalmia and corectopia|microphthalmia, isolated, with corectopia|microphthalmia, isolated, with corectopia; MCOPCR MONDO:0005334 hereditary nephritis biolink:Disease mondo MESH:D009394|SCTID:399340005|EFO:0004128 A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. SNOMEDCT:399340005|MESH:D009394 http://purl.obolibrary.org/obo/MONDO_0005334 nephritis, familial|familial nephritis|hereditary nephritis MONDO:0007993 microgastria-limb reduction defect syndrome biolink:Disease mondo OMIM:156810|UMLS:C1834929|Orphanet:2538|GARD:0003640|ICD10:Q87.8|MESH:C537554 This syndrome is characterised by the association of microgastria with a limb reduction defect. http://identifiers.org/omim/156810|UMLS:C1834929|ORPHA:2538|MESH:C537554 http://purl.obolibrary.org/obo/MONDO_0007993 congenital microgastria and limb reduction defects|microgastria-limb reduction defects association|microgastria limb reduction defect|microgastria-limb reduction defects association; MLRD|MLRD ordo_malformation_syndrome MONDO:0005333 hyperthyroxinemia biolink:Disease mondo MESH:D006981|UMLS:C0020551|DOID:2855|HGNC:399|EFO:0004127 Abnormally elevated thyroxine level in the blood. MESH:D006981|DOID:2855|UMLS:C0020551 http://purl.obolibrary.org/obo/MONDO_0005333 MONDO:0007994 micromelic bone dysplasia with cloverleaf skull biolink:Disease mondo OMIM:156830|MESH:C536429 http://identifiers.org/omim/156830|MESH:C536429 http://purl.obolibrary.org/obo/MONDO_0007994 micromelic bone dysplasia with cloverleaf skull MONDO:0007991 microcephaly-deafness-intellectual disability syndrome biolink:Disease mondo UMLS:C0796062|ICD10:Q87.8|OMIM:156620|Orphanet:2533|GARD:0000230|SCTID:716112005|MESH:C537326 Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. UMLS:C0796062|http://identifiers.org/omim/156620|ORPHA:2533|MESH:C537326|SNOMEDCT:716112005 http://purl.obolibrary.org/obo/MONDO_0007991 microcephaly-deafness syndrome|microcephaly deafness syndrome|syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies|Kawashima Tsuji syndrome|syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies|Kawashima-Tsuji syndrome ordo_malformation_syndrome MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome biolink:Disease mondo OMIM:156700|Orphanet:2536|UMLS:C1834935|GARD:0003637|MESH:C537552|ICD10:Q15.8 Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant. http://identifiers.org/omim/156700|UMLS:C1834935|ORPHA:2536|MESH:C537552 http://purl.obolibrary.org/obo/MONDO_0007992 microcornea, glaucoma, and absent frontal sinuses|hereditary microcornea, glaucoma, and absent frontal sinuses ordo_malformation_syndrome MONDO:0005330 obsolete angiosarcoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005330 MONDO:0007990 multiple benign circumferential skin creases on limbs biolink:Disease mondo GARD:0003589|Orphanet:2505|UMLS:C0473586|ICD10:Q82.8|MESH:C537575 UMLS:C0473586|ORPHA:2505|MESH:C537575 http://purl.obolibrary.org/obo/MONDO_0007990 circumferential skin creases, Kunze type|skin creases, multiple benign ring-shaped, of limbs|Michelin tire baby syndrome|CCSF|Kunze Riehm syndrome|congenital circumferential skin folds|Kunze-Riehm syndrome|CSCSC ordo_disease MONDO:0044937 rectal carcinoma biolink:Disease mondo NCIT:C9382 A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. NCIT:C9382 http://purl.obolibrary.org/obo/MONDO_0044937 rectum carcinoma|cancer of rectum|cancer of the rectum|carcinoma of the rectum|carcinoma of rectum|rectal cancer|rectal carcinoma UBERON:0002195 trabecula of lymph node biolink:AnatomicalEntity mondo Membranous process coming from capsule of lymph node[WP]. http://purl.obolibrary.org/obo/UBERON_0002195 lymph node trabecula|lymph node trabeculum MONDO:0017307 disorder of tyrosine metabolism biolink:Disease mondo SCTID:37200009|ICD9:270.2|Orphanet:284818|UMLS:CN202881|ICD10:E70.2 UMLS:CN202881|ORPHA:284818|SNOMEDCT:37200009 http://purl.obolibrary.org/obo/MONDO_0017307 ordo_group_of_disorders MONDO:0017308 obsolete Marfan syndrome type 2 biolink:Disease mondo ICD10:Q87.4|MESH:C535911|UMLS:C2698016|UMLS:C2931058|NCIT:C75007|Orphanet:284973 Hypothesized form of Marfan; dubious NCIT:C75007|ORPHA:284973|UMLS:C2698016|MESH:C535911|UMLS:C2931058 http://purl.obolibrary.org/obo/MONDO_0017308 Marfan syndrome type II|MFS2 speculative|ordo_clinical_subtype UBERON:0002194 capsule of lymph node biolink:AnatomicalEntity mondo Capsule surrounding lymph node composed of connective tissue with some plain muscle fibers. http://purl.obolibrary.org/obo/UBERON_0002194 capsula nodi lymphoidei|lymph node capsule MONDO:0020947 parasitic eye infection biolink:Disease mondo UMLS:C0015406|MESH:D015822|ICD9:136.9|SCTID:312418006 Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites. SNOMEDCT:312418006|UMLS:C0015406|MESH:D015822 http://purl.obolibrary.org/obo/MONDO_0020947 OCULAR INFECT PARASITIC|Parasitic Ocular Infections|Parasitic Eye Infection|parasitic eye infection|Infection, Parasitic Ocular|Parasitic eye infection|PARASITIC EYE INFECT|Infections, Parasitic Ocular|EYE INFECT PARASITIC|Parasitic Ocular Infection|Parasitic Eye Infections|Ocular Infection, Parasitic|Infections, Parasitic Eye|Infection, Parasitic Eye|Eye Infections, Parasitic|Eye Infection, Parasitic|Ocular Infections, Parasitic MONDO:0019969 panner disease biolink:Disease mondo ICD10:M92.0|Orphanet:97336|UMLS:CN206896 Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good. ORPHA:97336|UMLS:CN206896 http://purl.obolibrary.org/obo/MONDO_0019969 Osteochondrosis of the capital humerus|aseptic necrosis of the capital humerus ordo_disease MONDO:0017309 neonatal Marfan syndrome biolink:Disease mondo UMLS:CN202885|ICD10:Q87.4|UMLS:CN536247|SCTID:763839005|Orphanet:284979 Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. UMLS:CN202885|ORPHA:284979|UMLS:CN536247|SNOMEDCT:763839005 http://purl.obolibrary.org/obo/MONDO_0017309 neonatal MFS ordo_disease UBERON:0002196 adenohypophysis biolink:AnatomicalEntity mondo The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. http://purl.obolibrary.org/obo/UBERON_0002196 anterior lobe of pituitary gland|AHP|pituitary anterior lobe|anterior lobe of pituitary|anterior pituitary|cranial lobe|anterior pituitary gland|anterior lobe of the pituitary|anterior lobe (hypophysis)|lobus anterior (glandula pituitaria)|lobus anterior|pituitary gland, anterior lobe|pituitary glandanterior lobe|anterior hypophysis|anterior lobe of hypophysis|rostral lobe|lobus anterior hypophysis UBERON:0002191 subiculum biolink:AnatomicalEntity mondo Part of the hippocampal formation that is bounded by the entorhinal cortex and area CA1. It is characterized on the CA1 border by an abrupt widening of the pyramidal cell layer. A molecular layer is present that is continuous with that of CA1, although the stratum radiatum is no longer present. The stratum oriens is also not present. adapted from Paxinos, G. The rat central nervous system, 2nd ed, Academic Press, San Diego, 1995, pg. 468) http://purl.obolibrary.org/obo/UBERON_0002191 gyrus parahippocampalis|subiculum cornu ammonis|subiculum hippocampi|subicular cortex MONDO:0020944 fungal infection of eye biolink:Disease mondo UMLS:C0015405|MESH:D015821|ICD9:117.9|SCTID:31194008 Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses. SNOMEDCT:31194008|UMLS:C0015405|MESH:D015821 http://purl.obolibrary.org/obo/MONDO_0020944 EYE INFECT FUNGAL|Fungal Ocular Infection|Fungal Eye Infections|ocular mycosis|Eye Infection, Fungal|Infection, Fungal Eye|Ocular Infections, Fungal|MYCOTIC INFECT OCULAR|Mycotic Infections, Ocular|Infection, Ocular Mycotic|Mycoses, Ocular|Mycotic Infection, Ocular|Infections, Fungal Eye|OCULAR INFECT FUNGAL|Fungal Eye Infection|Fungal Ocular Infections|Infections, Ocular Mycotic|Fungal eye infection|Ocular Infection, Fungal|Mycosis, Ocular|Oculomycoses|Ocular Mycotic Infection|Ocular Mycoses|Infections, Fungal Ocular|Eye Infections, Fungal|Infection, Fungal Ocular|fungal eye infection|fungal infection of eye|Oculomycosis|Fungal infection of eye|Ocular Mycosis|Ocular mycosis|FUNGAL EYE INFECT|Ocular Mycotic Infections MONDO:0017303 qualitative or quantitative defects of tropomyosin biolink:Disease mondo Orphanet:284790 ORPHA:284790 http://purl.obolibrary.org/obo/MONDO_0017303 ordo_group_of_disorders MONDO:0019966 obsolete thoracic outlet syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019966 MONDO:0017304 ocular albinism (disease) biolink:Disease mondo MESH:D016117|DOID:0050633|HP:0001107|ICD9:270.2|ICD10:E70.3|Orphanet:284804|SCTID:26399002|MedDRA:10065276 Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. DOID:0050633|ORPHA:284804|UMLS:C0078917|MESH:D016117|SNOMEDCT:26399002|MEDDRA:10065276 http://purl.obolibrary.org/obo/MONDO_0017304 XLOA|ocular albinism ordo_group_of_disorders MONDO:0019965 obsolete rare benign ovarian tumor biolink:Disease mondo Orphanet:97293 Any of the forms of ovarian benign neoplasm that have a rare incidence. ORPHA:97293 http://purl.obolibrary.org/obo/MONDO_0019965 rare ovarian benign neoplasm ordo_group_of_disorders|obsoletion_candidate UBERON:0002190 subcutaneous adipose tissue biolink:AnatomicalEntity mondo A portion of adipose tissue that is part of the hypodermis, beneath the dermis. http://purl.obolibrary.org/obo/UBERON_0002190 subcutaneous fat|fatty layer of superficial fascia|panniculus adiposus (tela subcutanea)|fatty layer of subcutaneous tissue|panniculus adiposus telae subcutaneae|panniculus adiposus|subcutaneous fat layer|hypodermis fat layer MONDO:0017305 syndromic oculocutaneous albinism biolink:Disease mondo ICD10:E70.3|UMLS:CN227111|Orphanet:284811 A oculocutaneous albinism that is part of a larger syndrome. ORPHA:284811|UMLS:CN227111 http://purl.obolibrary.org/obo/MONDO_0017305 syndrome associated with oculocutaneous albinism|syndromic oculocutaneous albinism|syndrome associated with oculocutaneous albinism ordo_group_of_disorders UBERON:0002193 hemolymphoid system biolink:AnatomicalEntity mondo Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. http://purl.obolibrary.org/obo/UBERON_0002193 haemolymphoid system|hematolymphoid system|lymphomyeloid complex MONDO:0019968 obsolete Osgood-Schlatter disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019968 MONDO:0019967 Kienbock disease biolink:Disease mondo MedDRA:10064242|Orphanet:97332|ICD10:M93.2|ICD10:M92.2|GARD:0009690 Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function. MEDDRA:10064242|ORPHA:97332|UMLS:C0022682 http://purl.obolibrary.org/obo/MONDO_0019967 osteochondritis of the lunate bone|aseptic necrosis of the lunate bone|Lunatomalacia|bilateral Kienbock's disease|Kienbock's disease|Osteochondrosis of the lunate bone ordo_disease MONDO:0017306 disorder of phenylalanine metabolism biolink:Disease mondo UMLS:C0268461|SCTID:12957008|ICD10:E70.1|ICD10:E70.0|Orphanet:284814|ICD9:270.8 ORPHA:284814|SNOMEDCT:12957008|UMLS:C0268461 http://purl.obolibrary.org/obo/MONDO_0017306 ordo_group_of_disorders MONDO:0019962 thyroid lymphoma biolink:Disease mondo ICD10:C85.7|NCIT:C5265|Orphanet:97285|DOID:10011|UMLS:C1336753 A lymphoma primarily involving the thyroid gland. ORPHA:97285|DOID:10011|NCIT:C5265|UMLS:C1336753 http://purl.obolibrary.org/obo/MONDO_0019962 thyroid gland lymphoma|thyroid lymphoma|lymphoma of the thyroid gland|lymphoma of thyroid gland|primary thyroid gland lymphoma|lymphoma of the thyroid|lymphoma of thyroid ordo_disease MONDO:0017300 congenital pericardium anomaly biolink:Disease mondo ICD9:746.89|SCTID:93018000|ICD10:Q24.8|Orphanet:2846 Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst). ORPHA:2846|SNOMEDCT:93018000|UMLS:C0685699 http://purl.obolibrary.org/obo/MONDO_0017300 ordo_group_of_disorders MONDO:0019961 obsolete somatostatinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019961 MONDO:0017301 pericardial and diaphragmatic defect biolink:Disease mondo Orphanet:2847 Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. ORPHA:2847 http://purl.obolibrary.org/obo/MONDO_0017301 ordo_malformation_syndrome MONDO:0019964 thymic neuroendocrine tumor biolink:Disease mondo UMLS:CN206887|Orphanet:97289|ICD10:D38.4|ONCOTREE:TNET Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively. ORPHA:97289|UMLS:CN206887 http://purl.obolibrary.org/obo/MONDO_0019964 thymus neuroendocrine neoplasm|thymus neuroendocrine tumor, well differentiated, low or intermediate grade|thymus neuroendocrine tumor|thymus NET|neuroendocrine neoplasm of thymus|thymus neuroendocrine tumor ordo_disease MONDO:0019963 bronchial endocrine tumor biolink:Disease mondo UMLS:CN206886|ICD10:D38.1|Orphanet:97287 A neuroendocrine neoplasm that involves the bronchus. ORPHA:97287|UMLS:CN206886 http://purl.obolibrary.org/obo/MONDO_0019963 bronchial neuroendocrine tumor|bronchial NET|bronchus neuroendocrine neoplasm|bronchus neuroendocrine tumor|bronchus NET|bronchus neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of bronchus|bronchus neuroendocrine tumor ordo_disease MONDO:0017302 qualitative or quantitative defects of troponin biolink:Disease mondo Orphanet:284786 ORPHA:284786 http://purl.obolibrary.org/obo/MONDO_0017302 ordo_group_of_disorders UBERON:0002199 integument biolink:AnatomicalEntity mondo The dermis, epidermis and hypodermis. http://purl.obolibrary.org/obo/UBERON_0002199 the integument|vertebrate integument|dermoid system|integumentum commune|skin|skin plus hypodermis|tegument|Hautsystem@de|dermis plus epidermis plus hypodermis|dermal system|skin and subcutaneous tissue UBERON:0002198 neurohypophysis biolink:AnatomicalEntity mondo The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. http://purl.obolibrary.org/obo/UBERON_0002198 pituitary gland, posterior lobe|lobus posterior hypophysis|posterior pituitary gland|NHP|lobus nervosus|infundibular process|pituitary gland, neural lobe|lobus posterior|lobus nervosus neurohypophysis|neural lobe|posterior lobe of hypophysis|neurohypophysis|pituitary gland neural lobe|lobus posterior (glandula pituitaria)|posterior lobe of pituitary gland|neural lobe of pituitary gland|posterior lobe of pituitary|neural lobe of pituitary|posterior pituitary|neuro hypophysis MONDO:0019960 VIPoma biolink:Disease mondo GARD:0003787|MedDRA:10047430|ICD10:E16.8|SCTID:253005002|MESH:D003969|DOID:5574|UMLS:C0011993|GARD:0005493|NCIT:C26749|Orphanet:97282|EFO:1000622|ICDO:8155/1|ICD9:239.7 VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome). UMLS:C0011993|NCIT:C26749|SNOMEDCT:253005002|MESH:D003969|DOID:5574|MEDDRA:10047430|ORPHA:97282 http://purl.obolibrary.org/obo/MONDO_0019960 malignant vasoactive intestinal peptide-secreting tumor|VIP- secreting tumor|VIP-producing NET|pancreatic cholera|vasoactive intestinal peptide secreting neoplasm|vasoactive intestinal peptide-producing tumor|vasoactive intestinal peptide producing tumor|watery diarrhea-hypokalemia-achlorhydria syndrome|VIPoma|Verner-Morrison syndrome|VIP- secreting neoplasm|VIP-secreting tumor|VIP-producing neuroendocrine tumor|VIPoma, malignant|Diarrheogenic islet cell tumor|pancreatic vipoma|vasoactive intestinal peptide producing neoplasm|WDHA syndrome|watery diarrhea, hypokalemia, and achlorhydria syndrome|vasoactive intestinal peptide-secreting tumor|VIP producing neoplasm|vasoactive intestinal peptide (VIP) tumor ordo_disease MONDO:0005307 contracture biolink:Disease mondo MESH:D003286|EFO:0003899 Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. MESH:D003286 http://purl.obolibrary.org/obo/MONDO_0005307 PATO:0000947 elliptic biolink:OntologyClass mondo A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. http://purl.obolibrary.org/obo/PATO_0000947 ellipsoid|ellipse-shaped|ovoid|oval|elliptical MONDO:0005306 ankylosing spondylitis biolink:Disease mondo NCIT:C84564|DOID:7147|EFO:0003898|MESH:D013167|COHD:437082|SCTID:9631008|ICD10:M45|ICD9:720.0 An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. DOID:7147|SNOMEDCT:9631008|MESH:D013167|NCIT:C84564 http://purl.obolibrary.org/obo/MONDO_0005306 Bekhterev syndrome|Bekhterev's disease|Marie-Strumpell disease MONDO:0005309 spinal fracture biolink:Disease mondo EFO:0003902|SCTID:50448004|MESH:D016103 Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting. NCIT:C80516|SNOMEDCT:50448004|MESH:D016103 http://purl.obolibrary.org/obo/MONDO_0005309 bone fracture of vertebral column|vertebral column bone fracture MONDO:0007968 melanoma tumor antigen Gp90 biolink:Disease mondo OMIM:155770 http://identifiers.org/omim/155770 http://purl.obolibrary.org/obo/MONDO_0007968 melanoma tumor antigen Gp90|Class 1 unique tumor antigen of melanoma MONDO:0005308 ciliopathy biolink:Disease mondo DOID:0060340|EFO:0003900|UMLS:CN580792|GTR:AN0966173|Orphanet:363250 A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. UMLS:CN580792|ORPHA:363250|DOID:0060340 http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathies ordo_group_of_disorders MONDO:0007969 Melkersson-Rosenthal syndrome biolink:Disease mondo EFO:1001039|GARD:0007010|OMIM:155900|UMLS:C0025235|MESH:D008556|MedDRA:10027166|Orphanet:2483|ICD10:G51.2|DOID:1761|NCIT:C84886 The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected. ORPHA:2483|http://identifiers.org/omim/155900|UMLS:C0025235|MESH:D008556|MEDDRA:10027166|DOID:1761|NCIT:C84886 http://purl.obolibrary.org/obo/MONDO_0007969 Melkersson's syndrome|cheilitis granulomatosa of Mescher-Melkersson-Rosenthal|Melkersson-Rosenthal syndrome|MRS|Melkersson syndrome|cheilitis Granulomatosa|Mros ordo_malformation_syndrome|gard_rare MONDO:0007966 susceptibility to uveal melanoma biolink:Disease mondo OMIM:155720 http://identifiers.org/omim/155720 http://purl.obolibrary.org/obo/MONDO_0007966 melanoma, uveal predisposition MONDO:0005303 drug dependence biolink:Disease mondo ICD9:304.6|SCTID:191816009|NCIT:C3894|COHD:440069|ICD9:304|ICD9:304.60|DOID:9974|EFO:0003890|ICD9:304.90 Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug. NCIT:C3894|SNOMEDCT:191816009|DOID:9974 http://purl.obolibrary.org/obo/MONDO_0005303 chemical dependence MONDO:0007967 melanoma and neural system tumor syndrome biolink:Disease mondo MESH:C536149|OMIM:155755|GARD:0008468|Orphanet:252206|UMLS:C1835042|SCTID:717968005 Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). http://identifiers.org/omim/155755|SNOMEDCT:717968005|MESH:C536149|ORPHA:252206|UMLS:C1835042 http://purl.obolibrary.org/obo/MONDO_0007967 melanoma-astrocytoma syndrome|melanoma and neural system tumor syndrome|melanoma astrocytoma syndrome ordo_disease MONDO:0005302 attention deficit hyperactivity disorder, inattentive type biolink:Disease mondo MESH:D001289|ICD9:314.01|EFO:0003888|DOID:1094|COHD:438409|SCTID:406506008|ICD9:314.8|ICD9:314.9|NCIT:C35092 A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life. NCIT:C35092|MESH:D001289|DOID:1094|SNOMEDCT:406506008 http://purl.obolibrary.org/obo/MONDO_0005302 attention deficit hyperactivity disorder, inattentive/distractible type|attention deficit disorder|ADD|hyperkinetic disorder|attention deficit hyperactivity disorder, predominantly inattentive type|ADHD MONDO:0007964 dysplastic nevus syndrome biolink:Disease mondo OMIM:155601|MESH:D004416|NCIT:C7584|EFO:0004199|DOID:10041 Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed) http://identifiers.org/omim/155601|NCIT:C7584|DOID:10041|MESH:D004416 http://purl.obolibrary.org/obo/MONDO_0007964 melanoma, cutaneous malignant, susceptibility to, type 2|CMM2|susceptibility to cutaneous malignant melanoma 2|melanoma, cutaneous malignant, susceptibility to, 2|familial dysplastic nevi|melanoma, cutaneous malignant, susceptibility to, 2; CMM2|B-K Mole syndrome|Atypical Mole syndrome predisposition MONDO:0005305 obsolete epistaxis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005305 MONDO:0005304 biliary tract neoplasm (disease) biolink:Disease mondo DOID:0050625|UMLS:C0345913|ONCOTREE:BILIARYTRACT|EFO:0003891|HP:0100574|SCTID:126853008 A neoplasm that involves the biliary tract. UMLS:C0345913|DOID:0050625|SNOMEDCT:126853008 http://purl.obolibrary.org/obo/MONDO_0005304 tumor of biliary tree|tumor of the extrahepatic bile duct|extrahepatic bile duct neoplasm|biliary tree neoplasm|neoplasm of biliary tree|biliary tree tumor|neoplasm of extrahepatic bile ducts|biliary tract neoplasm|biliary tree neoplasm (disease) MONDO:0007965 melanoma, malignant familial intraocular biolink:Disease mondo MESH:C563596|OMIM:155700|UMLS:C1835043 http://identifiers.org/omim/155700|MESH:C563596|UMLS:C1835043 http://purl.obolibrary.org/obo/MONDO_0007965 melanoma, malignant familial intraocular MONDO:0007962 Megalodactyly biolink:Disease mondo SCTID:48449000|OMIM:155500|MESH:C562546|NCIT:C48900 A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances. NCIT:C48900|SNOMEDCT:48449000|MESH:C562546|http://identifiers.org/omim/155500 http://purl.obolibrary.org/obo/MONDO_0007962 macrodactyly|Megalodactyly MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 biolink:Disease mondo SCTID:254819008|OMIM:155600 http://identifiers.org/omim/155600|SNOMEDCT:254819008 http://purl.obolibrary.org/obo/MONDO_0007963 melanoma, cutaneous malignant|melanoma, cutaneous malignant, susceptibility to, 1|dysplastic Nevus syndrome, hereditary|CMM1|familial atypical Mole-malignant melanoma syndrome|melanoma, malignant|B-K Mole syndrome|melanoma, familial|melanoma, cutaneous malignant, susceptibility to, 1; CMM1 predisposition MONDO:0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome biolink:Disease mondo DOID:0060610|OMIM:249210|GARD:0003442|UMLS:C1608393|Orphanet:2241|ICD10:Q43.8|NCIT:C98982|MESH:C536138|SCTID:253781004 Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis. MESH:C536138|http://identifiers.org/omim/249210|SNOMEDCT:253781004|DOID:0060610|UMLS:C1608393|NCIT:C98982|ORPHA:2241 http://purl.obolibrary.org/obo/MONDO_0007960 MMIHS|megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS|megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH|megacystis microcolon intestinal hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|MMIH syndrome|megacystis, microcolon, hypoperistalsis syndrome|Berdon syndrome|visceral myopathy|megacystis, microcolon, intestinal hypoperistalsis syndrome ordo_malformation_syndrome MONDO:0005301 multiple sclerosis biolink:Disease mondo MESH:D009103|UMLS:C0026769|SCTID:24700007|COHD:374919|NCIT:C3243|ICD10:G35|ICD9:340|DOID:2377|EFO:0003885 A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. MESH:D009103|UMLS:C0026769|DOID:2377|SNOMEDCT:24700007|NCIT:C3243 http://purl.obolibrary.org/obo/MONDO_0005301 generalized multiple sclerosis|insular sclerosis MONDO:0005300 chronic kidney disease biolink:Disease mondo SCTID:709044004|ICD10:N18.9|COHD:46271022|UMLS:C0022661|NCIT:C80078|EFO:0003884|DOID:784|MESH:D007676|ICD9:585|ICD9:585.6 Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. NCIT:C80078|DOID:784|SNOMEDCT:709044004|MESH:D007676|UMLS:C0022661 http://purl.obolibrary.org/obo/MONDO_0005300 chronic renal failure syndrome|chronic renal disease|chronic renal insufficiency|kidney disease, chronic|chronic kidney failure|CKD - chronic kidney disease|renal failure - chronic|chronic kidney disease|CKD MONDO:0007961 megalencephaly, autosomal dominant biolink:Disease mondo UMLS:C3805727|OMIM:155350 http://identifiers.org/omim/155350|UMLS:C3805727 http://purl.obolibrary.org/obo/MONDO_0007961 megalencephaly, autosomal dominant MONDO:0019959 glucagonoma biolink:Disease mondo UMLS:C0017689|SCTID:16424000|ICD10:E16.8|Orphanet:97280|MedDRA:10018404|EFO:1000441|GARD:0002496|MESH:D005935|NCIT:C95597 Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. NCIT:C95597|MEDDRA:10018404|ORPHA:97280|SNOMEDCT:16424000|UMLS:C0017689|MESH:D005935 http://purl.obolibrary.org/obo/MONDO_0019959 pancreatic glucagonoma|glucagonoma syndrome|glucagonoma gard_rare|ordo_disease UBERON:0002184 segmental bronchus biolink:AnatomicalEntity mondo The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0002184 tertiary bronchus MONDO:0020937 contractures, pterygia, and variable skeletal fusions syndrome biolink:Disease mondo OMIMPS:178110 http://purl.obolibrary.org/obo/MONDO_0020937 UBERON:0002183 lobar bronchus biolink:AnatomicalEntity mondo The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]. http://purl.obolibrary.org/obo/UBERON_0002183 lobar bronchi|bronchi lobaris|secondary bronchus|secondary bronchi MONDO:0019958 obsolete insulinoma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0019958 UBERON:0002186 bronchiole biolink:AnatomicalEntity mondo the conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching http://purl.obolibrary.org/obo/UBERON_0002186 lobular bronchiole|bronchiolus|bronchioli UBERON:0002185 bronchus biolink:AnatomicalEntity mondo the upper conducting airways of the lung; these airways arise from the terminus of the trachea http://purl.obolibrary.org/obo/UBERON_0002185 bronchial tissue|bronchi|bronchial trunk UBERON:0002180 ventral funiculus of spinal cord biolink:AnatomicalEntity mondo The white substance of the spinal cord lying on either side between the ventral median fissure and the ventral roots of the spinal nerves. http://purl.obolibrary.org/obo/UBERON_0002180 ventral funiculi|ventral funiculus|anterior funiculus|funiculus anterior medullae spinalis|ventral white column of spinal cord|anterior white column of spinal cord|ventral funiculus of spinal cord|anterior funiculus of spinal cord MONDO:0019955 GRFoma biolink:Disease mondo UMLS:CN206877|ICD10:E16.8|Orphanet:97261 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1). ORPHA:97261|UMLS:CN206877 http://purl.obolibrary.org/obo/MONDO_0019955 GRF tumor|Growth hormone releasing factor tumor ordo_disease MONDO:0019954 pancreatic neuroendocrine tumor biolink:Disease mondo EFO:1000045|GARD:0013034|Orphanet:97253|ICD10:E16.8|NCIT:C27720|ICDO:8150/1|ONCOTREE:PANET Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma). ORPHA:97253|NCIT:C27720 http://purl.obolibrary.org/obo/MONDO_0019954 well differentiated pancreatic endocrine neoplasm|neuroendocrine tumor of pancreas|islet cell tumors of the pancreas|well-differentiated NEN of pancreas|well-differentiated pancreatic NEN|pancreatic endocrine tumor|pancreatic NET|well-differentiated pancreatic neuroendocrine neoplasm|well-differentiated neuroendocrine neoplasm of pancreas|PANET|islet cell tumor|pancreatic neuroendocrine tumor|well differentiated pancreatic endocrine tumor|islet cell tumors - pancreas ordo_group_of_disorders UBERON:0002182 main bronchus biolink:AnatomicalEntity mondo One of two branches of the trachea. http://purl.obolibrary.org/obo/UBERON_0002182 extrapulmonary bronchus|bronchus principalis|major bronchus|principal bronchus|proximal bronchus|primary bronchus|mainstem bronchus MONDO:0019957 PPoma biolink:Disease mondo UMLS:CN206879|NCIT:C67453|ICD10:E16.8|ICD9:239.89|UMLS:C1882278|Orphanet:97278|SCTID:255039001|UMLS:C0346407|ICDO:8152/1 PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1). ORPHA:97278|UMLS:C1882278|SNOMEDCT:255039001|UMLS:CN206879|NCIT:C67453|UMLS:C0346407 http://purl.obolibrary.org/obo/MONDO_0019957 pancreatic polypeptide tumor|pancreatic polypeptidoma|pancreatic polypeptide neoplasm ordo_disease MONDO:0019956 encephalitis biolink:Disease mondo ICD9:323.9|ICD9:323.8|NCIT:C26760|MESH:D004660|MedDRA:10014581|SCTID:45170000|DOID:9588|Orphanet:97275|ICD10:A85|ICD9:323.0|UMLS:C0014038 An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. SNOMEDCT:45170000|ORPHA:97275|MEDDRA:10014581|DOID:9588|NCIT:C26760|MESH:D004660|UMLS:C0014038 http://purl.obolibrary.org/obo/MONDO_0019956 brain inflammation ordo_group_of_disorders MONDO:0019951 rigid spine syndrome biolink:Disease mondo MESH:C535683|Orphanet:97244|ICD10:G71.2|GARD:0004723 Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency. ORPHA:97244|MESH:C535683 http://purl.obolibrary.org/obo/MONDO_0019951 desmin-related myopathies with Mallory bodies|muscular dystrophy, congenital, merosin positive with early spine rigidity|rigid spine muscular dystrophy-1|rigid spine congenital muscular dystrophy ordo_disease MONDO:0019950 congenital muscular dystrophy biolink:Disease mondo Orphanet:97242|GARD:0009138|ICD10:G71.2|ICD9:359.0|EFO:0006819|UMLS:C0699743|SCTID:240059009|DOID:0050557 A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. ORPHA:97242|UMLS:C0699743|DOID:0050557|SNOMEDCT:240059009 http://purl.obolibrary.org/obo/MONDO_0019950 congenital MD|MDC|CMD ordo_group_of_disorders MONDO:0019953 mega-cisterna magna biolink:Disease mondo Orphanet:97252|ICD10:Q07.8 UMLS:C3164501|ORPHA:97252 http://purl.obolibrary.org/obo/MONDO_0019953 ordo_morphological_anomaly MONDO:0019952 congenital myopathy biolink:Disease mondo DOID:0080100|MedDRA:10062547|Orphanet:97245|ICD10:G71.2|GARD:0005898 ORPHA:97245|UMLS:C0270960|MEDDRA:10062547|DOID:0080100 http://purl.obolibrary.org/obo/MONDO_0019952 myopathy congenital|batten Turner congenital myopathy ordo_group_of_disorders UBERON:0002188 respiratory bronchiole biolink:AnatomicalEntity mondo A bronchiole that is the first segment of the respiratory zone. http://purl.obolibrary.org/obo/UBERON_0002188 bronchiolus respiratorii|bronchiolus respiratorius UBERON:0002187 terminal bronchiole biolink:AnatomicalEntity mondo the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls http://purl.obolibrary.org/obo/UBERON_0002187 bronchioli terminalis|terminal bronchiole tube|bronchiolus terminalis MONDO:0005318 canker sore biolink:Disease mondo SCTID:427617000|NCIT:C62546|MESH:D013281|HP:0032154|EFO:0003938 A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology. SNOMEDCT:427617000|MESH:D013281|NCIT:C62546 http://purl.obolibrary.org/obo/MONDO_0005318 aphthous stomatitis|aphthous ulcer|canker sore PATO:0000957 opacity biolink:OntologyClass mondo An optical quality which obtains by virtue of the ability of the bearer to absorb visible light. http://purl.obolibrary.org/obo/PATO_0000957 MONDO:0005317 obsolete fatty liver biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005317 MONDO:0007979 metachondromatosis biolink:Disease mondo OMIM:156250|SCTID:205481009|ICD9:756.59|MESH:C562938|Orphanet:2499|UMLS:C0410530|ICD10:Q78.4|GARD:0003560 Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. ORPHA:2499|UMLS:C0410530|SNOMEDCT:205481009|http://identifiers.org/omim/156250|MESH:C562938 http://purl.obolibrary.org/obo/MONDO_0007979 metachondromatosis|METACHONDROMATOSIS; METCDS|METCDS ordo_malformation_syndrome|gard_rare MONDO:0005319 humerus fracture biolink:Disease mondo EFO:0003943|SCTID:66308002|MESH:D006810|COHD:442619 A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken. SNOMEDCT:66308002|MESH:D006810|NCIT:C26795 http://purl.obolibrary.org/obo/MONDO_0005319 humeral fracture|fractures, humeral|fracture, humeral other_hierarchy MONDO:0007977 mesomelic dysplasia, Kantaputra type biolink:Disease mondo Orphanet:1836|MESH:C535547|OMIM:156232|ICD10:Q78.8|SCTID:719397009|GARD:0003074 Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. ORPHA:1836|MESH:C535547|UMLS:C1835009|http://identifiers.org/omim/156232|SNOMEDCT:719397009 http://purl.obolibrary.org/obo/MONDO_0007977 mesomelic dysplasia, Thai type|mesomelic dysplasia, Kantaputra type; MMDK|mesomelic dysplasia Kantaputra type|MMDK|mesomelic dysplasia Thai type|mesomelic dysplasia with ankle carpal and tarsal synostosis|mesomelic dysplasia with ankle, carpal, and tarsal synostosis|Kantaputra mesomelic dysplasia|MDK|Mdk|mesomelic dysplasia, Kantaputra type ordo_malformation_syndrome|gard_rare MONDO:0005314 relapsing-remitting multiple sclerosis biolink:Disease mondo MESH:D020529|EFO:0003929|DOID:2378|UMLS:C0751967|SCTID:426373005 The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914) SNOMEDCT:426373005|UMLS:C0751967|DOID:2378|MESH:D020529 http://purl.obolibrary.org/obo/MONDO_0005314 Relapsing-remitting MS|RRMS MONDO:0005313 necrotizing enterocolitis biolink:Disease mondo ICD9:777.5|NCIT:C84915|UMLS:C4082937|EFO:0003928|SCTID:2707005|MESH:D020345|UMLS:C0520459 Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death. SNOMEDCT:2707005|UMLS:C0520459|MESH:D020345|UMLS:C4082937|NCIT:C84915 http://purl.obolibrary.org/obo/MONDO_0005313 NEC|necrotizing enterocolitis|necrotizing enterocolitis in fetus or newborn MONDO:0007978 obsolete malignant mesothelioma biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007978 MONDO:0005316 bacterial vaginosis biolink:Disease mondo DOID:3385|EFO:0003932|UMLS:C0085166|NCIT:C116973|SCTID:419760006|MESH:D016585 Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection. UMLS:C0085166|NCIT:C116973|DOID:3385|SNOMEDCT:419760006|MESH:D016585 http://purl.obolibrary.org/obo/MONDO_0005316 BV MONDO:0007975 meralgia paraesthetica, familial biolink:Disease mondo UMLS:C1835026|OMIM:156220|MESH:C563590 MESH:C563590|UMLS:C1835026|http://identifiers.org/omim/156220 http://purl.obolibrary.org/obo/MONDO_0007975 meralgia paraesthetica, familial MONDO:0005315 bone fracture biolink:Disease mondo EFO:0003931|NCIT:C3046|SCTID:125605004|COHD:75053|MESH:D050723 Breaks in bones. SNOMEDCT:125605004|NCIT:C3046|MESH:D050723 http://purl.obolibrary.org/obo/MONDO_0005315 fracture|fracture of bone|fracture(s) other_hierarchy MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type biolink:Disease mondo OMIM:156230|UMLS:C1835010|GARD:0007313|MESH:C563589 UMLS:C1835010|MESH:C563589|http://identifiers.org/omim/156230 http://purl.obolibrary.org/obo/MONDO_0007976 mesomelic dwarfism of hypoplastic tibia and radius type gard_rare MONDO:0005310 atrial flutter (disease) biolink:Disease mondo SCTID:5370000|HP:0004749|COHD:314665|ICD9:427.32|MESH:D001282|EFO:0003911|NCIT:C51224 A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) SNOMEDCT:5370000|MESH:D001282|NCIT:C51224 http://purl.obolibrary.org/obo/MONDO_0005310 atrial flutter MONDO:0007973 mental and growth retardation with amblyopia biolink:Disease mondo UMLS:C1835028|MESH:C563591|OMIM:156190 MESH:C563591|UMLS:C1835028|http://identifiers.org/omim/156190 http://purl.obolibrary.org/obo/MONDO_0007973 mental and growth retardation with amblyopia MONDO:0007974 intellectual disability, autosomal dominant 1 biolink:Disease mondo DOID:0070031|NCIT:C141424|MESH:C566947|OMIM:156200 An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures. MESH:C566947|NCIT:C141424|DOID:0070031|http://identifiers.org/omim/156200 http://purl.obolibrary.org/obo/MONDO_0007974 mental retardation, autosomal dominant 1|autosomal dominant intellectual disability 1|autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5|intellectual disability, autosomal dominant 1; MRD1|mental retardation, autosomal dominant type 1|mental retardation, autosomal dominant 1; MRD1|autosomal dominant non-syndromic intellectual disability 1|autosomal dominant mental retardation 1|MRD1|intellectual disability, autosomal dominant type 1|chromosome 2Q23.1 deletion syndrome|MBD5 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 1 HGNC:25033 LRTOMT biolink:OntologyClass mondo http://identifiers.org/hgnc/25033 MONDO:0005312 pouchitis biolink:Disease mondo ICD10:K91.850|MESH:D019449|ICD9:569.71|UMLS:C0376620|EFO:0003921 Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative). MESH:D019449|UMLS:C0376620 http://purl.obolibrary.org/obo/MONDO_0005312 MONDO:0007971 delayed membranous cranial ossification biolink:Disease mondo ICD10:Q75.8|MESH:C563592|UMLS:C1835030|GARD:0001727|SCTID:715524004|OMIM:155980|Orphanet:3034 Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development. MESH:C563592|SNOMEDCT:715524004|UMLS:C1835030|ORPHA:3034|http://identifiers.org/omim/155980 http://purl.obolibrary.org/obo/MONDO_0007971 membranous cranial ossification, delayed|Gonzales-del Angel syndrome ordo_malformation_syndrome|gard_rare MONDO:0044964 oral cavity mucoepidermoid carcinoma biolink:Disease mondo UMLS:C0280309|NCIT:C8177 A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination. NCIT:C8177|UMLS:C0280309 http://purl.obolibrary.org/obo/MONDO_0044964 oral cavity mucoepidermoid cancer|mucoepidermoid carcinoma of the oral cavity|mucoepidermoid carcinoma of oral cavity|oral cavity mucoepidermoid carcinoma MONDO:0005311 atherosclerosis biolink:Disease mondo ICD9:440.8|ICD10:I25.1|NCIT:C35771|NCIT:C35768|ICD10:I70|ICD9:440|MESH:D050197|EFO:0003914|DOID:1936|SCTID:441574008 Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. NCIT:C35768|NCIT:C35771|MESH:D050197|DOID:1936|SNOMEDCT:441574008 http://purl.obolibrary.org/obo/MONDO_0005311 atherosclerosis of artery|atherosclerosis artery|atherosclerotic cardiovascular disease MONDO:0007972 Meniere disease biolink:Disease mondo ICD10:H81.0|EFO:0006862|MESH:D008575|SCTID:13445001|OMIM:156000|ICD9:386.00|UMLS:C0025281|DOID:9849|ICD9:386.0|ICD10:H81.09 A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops. UMLS:C0025281|MESH:D008575|http://identifiers.org/omim/156000|DOID:9849|SNOMEDCT:13445001 http://purl.obolibrary.org/obo/MONDO_0007972 Mnire's vertigo|Meniere disease|otogenic vertigo|Meniere's disease MONDO:0007970 melorheostosis biolink:Disease mondo ICD9:756.89|NCIT:C84887|DOID:4253|ICD10:M85.8|OMIM:155950|UMLS:C0025239|MedDRA:10050284|GARD:0009474|MESH:D008557|SCTID:44697002|Orphanet:2485 Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities. MESH:D008557|MEDDRA:10050284|NCIT:C84887|SNOMEDCT:44697002|ORPHA:2485|http://identifiers.org/omim/155950|DOID:4253|UMLS:C0025239 http://purl.obolibrary.org/obo/MONDO_0007970 melorheostosis, isolated|Mel ordo_malformation_syndrome|gard_rare NCBITaxon:115425 Cochliomyia hominivorax organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_115425 primary screw-worm UBERON:0002173 pulmonary alveolar duct biolink:AnatomicalEntity mondo the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli http://purl.obolibrary.org/obo/UBERON_0002173 ductus alveolaris|alveolar duct|respiratory alveolar duct MONDO:0019948 reducing body myopathy biolink:Disease mondo ICD10:G71.2|DOID:0080090|Orphanet:97239|ICD9:359.89|SCTID:42779002|GARD:0012162 Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres. DOID:0080090|SNOMEDCT:42779002|ORPHA:97239|UMLS:C0270970 http://purl.obolibrary.org/obo/MONDO_0019948 ordo_disease|gard_rare MONDO:0019947 rippling muscle disease 2 biolink:Disease mondo OMIM:606072|MONDO:0011910|UMLS:C1832560|NCIT:C148325|DOID:0060255 An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype. NCIT:C148325|UMLS:C1832560|http://identifiers.org/omim/606072|DOID:0060255 http://purl.obolibrary.org/obo/MONDO_0019947 rippling muscle disease 2; RMD2|muscular dystrophy limb-girdle type IC|rippling muscle disease caused by mutation in CAV3|muscular dystrophy, limb-girdle, type 1C; LGMD1C|rippling muscle disease type 2|limb-girdle muscular dystrophy type 1C|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|LGMD1C|limb-girdle muscular dystrophy due to caveolin-3 deficiency|RMD2|rippling muscle disease 2|muscular dystrophy, limb-girdle, type IC|CAV3 autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 1C|CAV3 rippling muscle disease ordo_disease MONDO:0019949 zebra body myopathy biolink:Disease mondo Orphanet:97240|UMLS:C0270969|ICD10:G71.2|ICD9:359.89|SCTID:34513009 SNOMEDCT:34513009|ORPHA:97240|UMLS:C0270969 http://purl.obolibrary.org/obo/MONDO_0019949 ordo_disease MONDO:0019944 Eisenmenger syndrome biolink:Disease mondo MedDRA:10058554|NCIT:C84390|MESH:D004541|UMLS:C0013743|Orphanet:97214|ICD10:I27.2|GARD:0006323|SCTID:445928005 Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH. ORPHA:97214|UMLS:C0013743|MEDDRA:10058554|NCIT:C84390|MESH:D004541|SNOMEDCT:445928005 http://purl.obolibrary.org/obo/MONDO_0019944 Eisenmenger's syndrome gard_rare|ordo_malformation_syndrome MONDO:0019943 hereditary continuous muscle fiber activity biolink:Disease mondo UMLS:C1834559|GARD:0001512|Orphanet:972|ICD10:G71.1 Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. ORPHA:972|UMLS:C1834559 http://purl.obolibrary.org/obo/MONDO_0019943 continuous muscle fiber activity hereditary gard_rare|ordo_disease MONDO:0020920 escherichia coli infection biolink:Disease mondo NCIT:C34594|GTR:AN0474198|MESH:D004927|UMLS:C0014836|EFO:1001318|GTR:AN0485755|GTR:AN0485754|SCTID:71057007|HP:0002740 Infection with the organism Escherichia Coli. NCIT:C34594|SNOMEDCT:71057007|MESH:D004927|UMLS:C0014836 http://purl.obolibrary.org/obo/MONDO_0020920 Infection, E. coli|E. coli infection|Recurrent E. coli infections|E Coli Infection|Escherichia Coli Infection|E coli Infections|Infection due to Escherichia coli|Infection, E coli|Infection, Escherichia coli|Bacterial infection due to E. coli|E. coli Infection|Infections, E coli|ESCHERICHIA COLI INFECT|Colibacillosis|E coli Infection|E COLI INFECT|Infections, Escherichia coli|E. coli Infections|Escherichia coli Infection|INFECT E COLI|E coli infections|INFECT ESCHERICHIA COLI|Escherichia coli Infections|Escherichia coli infection|e coli infection|Bacterial infection caused by E. coli|escherichia coli infection|E coli infections, recurrent|Infection caused by Escherichia coli MONDO:0019946 ligneous conjunctivitis biolink:Disease mondo ICD10:H10.4|SCTID:403435005|MedDRA:10071570|UMLS:C1274789|ICD9:372.39|GARD:0006187|Orphanet:97231 Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia. MEDDRA:10071570|SNOMEDCT:403435005|ORPHA:97231|UMLS:C1274789 http://purl.obolibrary.org/obo/MONDO_0019946 conjunctivitis lignosa ordo_disease MONDO:0019945 solar urticaria biolink:Disease mondo SCTID:10347006|ICD10:L56.3|MedDRA:10041307|UMLS:C0263610|ICD9:708.8|Orphanet:97230 Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation. MEDDRA:10041307|SNOMEDCT:10347006|ORPHA:97230|UMLS:C0263610 http://purl.obolibrary.org/obo/MONDO_0019945 ordo_disease MONDO:0044956 paranasal sinus mucoepidermoid carcinoma biolink:Disease mondo NCIT:C6018 A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. NCIT:C6018 http://purl.obolibrary.org/obo/MONDO_0044956 mucoepidermoid carcinoma of the accessory sinus|mucoepidermoid carcinoma of accessory sinus|accessory sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the paranasal sinus|mucoepidermoid carcinoma of paranasal sinus|paranasal sinus mucoepidermoid carcinoma MONDO:0019940 hypertrichosis-acromegaloid facial appearance syndrome biolink:Disease mondo GARD:0000502|ICD10:Q87.0|Orphanet:966|SCTID:721837000|UMLS:CN226272 Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type. UMLS:CN226272|ORPHA:966|SNOMEDCT:721837000 http://purl.obolibrary.org/obo/MONDO_0019940 acromegaloid hypertrichosis syndrome|hypertrichosis-acromegaloid facial features syndrome|hypertrichosis-coarse face syndrome|acromegaloid facial appearance syndrome and hypertrichosis|haff ordo_malformation_syndrome|gard_rare MONDO:0019942 distal arthrogryposis biolink:Disease mondo DOID:0050646|GARD:0000786|Orphanet:97120|SCTID:24269006|ICD10:Q68.8|OMIMPS:108120 A muscle tissue disease characterized by congenital joint contractures of hand and feet. UMLS:C0265213|ORPHA:97120|DOID:0050646|SNOMEDCT:24269006 http://purl.obolibrary.org/obo/MONDO_0019942 freeman-Sheldon syndrome|Sheldon-Hall syndrome|arthrogryposis multiplex congenita|freeman-Sheldon syndrome variant|arthrogryposis multiplex congenita distal ordo_group_of_disorders MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 biolink:Disease mondo ICD10:G60.8|PMID:21089229|SCTID:398148000|DOID:0070161|Orphanet:970|GARD:3976|GARD:0003976 Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia. UMLS:C0270914|SNOMEDCT:398148000|ORPHA:970|DOID:0070161 http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory neuropathy type 2|HSAN2|neurogenic acroosteolysis|Giaccai type acroosteolysis|autosomal recessive sensory radicular neuropathy|hereditary sensory radicular neuropathy, recessive form|hereditary sensory and autonomic neuropathy type II ordo_disease UBERON:0002177 right main bronchus biolink:AnatomicalEntity mondo The main bronchus on the right side. http://purl.obolibrary.org/obo/UBERON_0002177 right primary bronchus|right bronchus|right major bronchus|bronchus principalis dexter|right principal bronchus ECTO:9000433 polycyclic arene exposure biolink:OntologyClass mondo An exposure to polycyclic arene. http://purl.obolibrary.org/obo/ECTO_9000433 exposure to polycyclic arene MONDO:0020927 postaxial polydactyly biolink:Disease mondo OMIMPS:174200 http://purl.obolibrary.org/obo/MONDO_0020927 UBERON:0002178 left main bronchus biolink:AnatomicalEntity mondo The main bronchus on the left side. http://purl.obolibrary.org/obo/UBERON_0002178 left major bronchus|bronchus principalis sinister|left principal bronchus|left primary bronchus|left bronchus MONDO:0032904 corneal dystrophy, Meesmann, 2 biolink:Disease mondo OMIM:618767 http://identifiers.org/omim/618767 http://purl.obolibrary.org/obo/MONDO_0032904 CORNEAL DYSTROPHY, MEESMANN, 2; MECD2 MONDO:0032905 spastic paraplegia 81, autosomal recessive biolink:Disease mondo OMIM:618768 http://identifiers.org/omim/618768 http://purl.obolibrary.org/obo/MONDO_0032905 SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 MONDO:0032902 Joubert syndrome 36 biolink:Disease mondo OMIM:618763 http://identifiers.org/omim/618763 http://purl.obolibrary.org/obo/MONDO_0032902 JOUBERT SYNDROME 36; JBTS36 MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum biolink:Disease mondo OMIM:618766 http://identifiers.org/omim/618766 http://purl.obolibrary.org/obo/MONDO_0032903 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum|Zain Syndrome|AMCNACC MONDO:0005369 carcinoid tumor (disease) biolink:Disease mondo EFO:0004243|GARD:0009316|ICD9:209.60|HP:0100570|MESH:D002276|NCIT:C2915|SCTID:443492008|ICDO:8241/3|ICDO:8240/3 A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement. SNOMEDCT:443492008|MESH:D002276|NCIT:C2915 http://purl.obolibrary.org/obo/MONDO_0005369 NET G1|neuroendocrine tumor G1|carcinoid tumor|carcinoid|neuroendocrine neoplasm G1 MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements biolink:Disease mondo OMIM:618760 http://identifiers.org/omim/618760 http://purl.obolibrary.org/obo/MONDO_0032900 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM MONDO:0032901 Catifa syndrome biolink:Disease mondo OMIM:618761 http://identifiers.org/omim/618761 http://purl.obolibrary.org/obo/MONDO_0032901 Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder|CATIFA SYNDROME; CATIFA MONDO:0005368 obsolete obsessive-compulsive disorder biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005368 HGNC:25009 UBE2T biolink:OntologyClass mondo http://identifiers.org/hgnc/25009 MONDO:0005365 hearing loss disorder biolink:Disease mondo UMLS:C1384666|ICD10:H90|ICD9:389|ICD9:389.9|MESH:D034381|COHD:377889|EFO:0004238|SCTID:15188001|ICD9:389.8|NCIT:C35731 A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. MESH:D034381|SNOMEDCT:15188001|NCIT:C35731|UMLS:C1384666 http://purl.obolibrary.org/obo/MONDO_0005365 hypoacusis|hearing impairment|hearing loss|deafness|loss of hearing|hypoacuses|loss, hearing MONDO:0005364 Graves disease biolink:Disease mondo SCTID:353295004|DOID:12361|EFO:0004237|ICD10:E05.0|ICD9:242.0|MESH:D006111|GARD:0006549|NCIT:C3071 Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery. NCIT:C3071|SNOMEDCT:353295004|MESH:D006111|DOID:12361 http://purl.obolibrary.org/obo/MONDO_0005364 exophthalmic goiter|Graves' disease|Basedow's disease|grave's disease|Graves disease|Graves' hyperthyroidism|Basedow disease|parry disease gard_rare ECTO:9000409 salt exposure biolink:OntologyClass mondo An exposure to salt. http://purl.obolibrary.org/obo/ECTO_9000409 exposure to salt MONDO:0005367 heroin dependence biolink:Disease mondo DOID:9976|EFO:0004240|NCIT:C34694|MESH:D006556|SCTID:231477003|UMLS:CN236651 Physical and psychological dependence on the drug heroin. MESH:D006556|SNOMEDCT:231477003|DOID:9976|NCIT:C34694|UMLS:CN236651 http://purl.obolibrary.org/obo/MONDO_0005367 Heroin addiction MONDO:0005366 chronic hepatitis B virus infection biolink:Disease mondo MESH:D019694|EFO:0004239|UMLS:C0524909 Chronic form of hepatitis B infection. UMLS:C0524909|MESH:D019694 http://purl.obolibrary.org/obo/MONDO_0005366 hepatitis B, chronic|hepatitis B infection, chronic|chronic Hepatitis B MONDO:0005361 eosinophilic esophagitis biolink:Disease mondo MESH:D057765|NCIT:C27105|ICD10:K20.0|SCTID:235599003|MedDRA:10064212|UMLS:C0341106|COHD:27918|Orphanet:73247|ICD9:530.13|ICD10:K20|EFO:0004232|DOID:13922 Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs). SNOMEDCT:235599003|MESH:D057765|ORPHA:73247|MEDDRA:10064212|UMLS:C0341106|NCIT:C27105|DOID:13922 http://purl.obolibrary.org/obo/MONDO_0005361 EoE ordo_disease MONDO:0032908 CEBALID syndrome biolink:Disease mondo OMIM:618774 http://identifiers.org/omim/618774 http://purl.obolibrary.org/obo/MONDO_0032908 CEBALID SYNDROME; CEBALID|Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development MONDO:0005360 obsolete Dupuytren contracture (disease) biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005360 MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 biolink:Disease mondo OMIM:618775 http://identifiers.org/omim/618775 http://purl.obolibrary.org/obo/MONDO_0032909 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 MONDO:0005363 focal segmental glomerulosclerosis biolink:Disease mondo SCTID:236403004|DOID:1312|EFO:0004236|ICD9:582.1|GARD:0006517|OMIMPS:603278|UMLS:CN043606|NCIT:C37308|MESH:D005923 A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. MESH:D005923|NCIT:C37308|UMLS:CN043606|SNOMEDCT:236403004|DOID:1312 http://purl.obolibrary.org/obo/MONDO_0005363 FSGS|focal glomerulosclerosis|focal glomerular sclerosis|FGS|FGS (focal glomerular sclerosis)|FSGS - focal segmental glomerulosclerosis MONDO:0032906 spastic paraplegia 82, autosomal recessive biolink:Disease mondo OMIM:618770 http://identifiers.org/omim/618770 http://purl.obolibrary.org/obo/MONDO_0032906 SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82 MONDO:0005362 erectile dysfunction (disease) biolink:Disease mondo NCIT:C34801|MESH:D007172|SCTID:397803000|EFO:0004234|DOID:1875|HP:0000802 Persistent or recurrent inability to achieve or to maintain an erection during sexual activity. DOID:1875|NCIT:C3133|NCIT:C34801|MESH:D007172|SNOMEDCT:397803000 http://purl.obolibrary.org/obo/MONDO_0005362 sexual impotence, Male|male erectile Disorder|sexual impotence (finding)|dysfunction, erectile|impotence|sexual impotence|impotence, male|impotence, male sexual|erectile dysfunction|male impotence|male sexual impotence MONDO:0032907 lymphatic malformation 8 biolink:Disease mondo OMIM:618773 http://identifiers.org/omim/618773 http://purl.obolibrary.org/obo/MONDO_0032907 LYMPHATIC MALFORMATION 8; LMPHM8 ECTO:9000404 nitrogen molecular entity exposure biolink:OntologyClass mondo An exposure to nitrogen molecular entity. http://purl.obolibrary.org/obo/ECTO_9000404 exposure to nitrogen molecular entity MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency biolink:Disease mondo Orphanet:101960 ORPHA:101960 http://purl.obolibrary.org/obo/MONDO_0020999 ordo_group_of_disorders MONDO:0017358 obsolete organic aciduria biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0017358 MONDO:0017359 3-methylglutaconic aciduria biolink:Disease mondo MESH:C579867|SCTID:237950009|OMIMPS:250950|NCIT:C98678|ICD10:E71.1|ICD10:E71.111|DOID:0060336|UMLS:C3696376|Orphanet:289902 A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. DOID:0060336|NCIT:C98678|ORPHA:289902|UMLS:C3696376|MESH:C579867|SNOMEDCT:237950009 http://purl.obolibrary.org/obo/MONDO_0017359 ordo_group_of_disorders MONDO:0017354 infantile glycine encephalopathy biolink:Disease mondo Orphanet:289860|ICD10:E72.5 Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures. ORPHA:289860 http://purl.obolibrary.org/obo/MONDO_0017354 infantile NKH|infantile non-ketotic hyperglycinemia|glycine encephalopathy of infancy|infantile onset glycine encephalopathy ordo_clinical_subtype MONDO:0017355 inborn disorder of proline metabolism biolink:Disease mondo ICD10:E72.8|Orphanet:289866|UMLS:CN227118 An acquired metabolic disease that is has its basis in the disruption of proline metabolic process. ORPHA:289866|UMLS:CN227118 http://purl.obolibrary.org/obo/MONDO_0017355 rare inborn error of proline metabolic process|inborn proline metabolic process disorder|rare inborn error of proline metabolic process|disorder of proline metabolism|inborn error of proline metabolic process ordo_group_of_disorders HGNC:15685 B4GAT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/15685 MONDO:0017356 inborn disorder of ornithine metabolism biolink:Disease mondo ICD10:E72.4|Orphanet:289869|UMLS:C0342690|SCTID:237928008 An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process. ORPHA:289869|UMLS:C0342690|SNOMEDCT:237928008 http://purl.obolibrary.org/obo/MONDO_0017356 rare inborn error of ornithine metabolic process|inborn error of ornithine metabolic process|rare inborn error of ornithine metabolic process|inborn ornithine metabolic process disorder|disorder of ornithine metabolism ordo_group_of_disorders MONDO:0017357 transient hyperammonemia of the newborn biolink:Disease mondo UMLS:CN203020|ICD10:P74.8|Orphanet:289877 ORPHA:289877|UMLS:CN203020 http://purl.obolibrary.org/obo/MONDO_0017357 ordo_clinical_situation MONDO:0017350 inborn disorder of tryptophan metabolism biolink:Disease mondo SCTID:5181007|ICD9:270.2|UMLS:CN203012|ICD10:E70.8|Orphanet:289829 An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process. SNOMEDCT:5181007|UMLS:CN203012|ORPHA:289829 http://purl.obolibrary.org/obo/MONDO_0017350 inborn tryptophan metabolic process disorder|rare inborn error of tryptophan metabolic process|inborn error of tryptophan metabolic process|rare inborn error of tryptophan metabolic process|disorder of tryptophan metabolism ordo_group_of_disorders MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism biolink:Disease mondo ICD10:E72.3|ICD9:270.8|SCTID:237929000|ICD9:270.7|Orphanet:289832 SNOMEDCT:237929000|ORPHA:289832 http://purl.obolibrary.org/obo/MONDO_0017351 disorder of lysine and hydroxylysine metabolism ordo_group_of_disorders MONDO:0017352 disorder of glutamine metabolism biolink:Disease mondo ICD10:E72.8|ICD9:270.7|SCTID:190724004|Orphanet:289841|UMLS:C0342669 SNOMEDCT:190724004|ORPHA:289841|UMLS:C0342669 http://purl.obolibrary.org/obo/MONDO_0017352 ordo_group_of_disorders MONDO:0017353 neonatal glycine encephalopathy biolink:Disease mondo ICD10:E72.5|Orphanet:289857 Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. ORPHA:289857 http://purl.obolibrary.org/obo/MONDO_0017353 classic glycine encephalopathy|neonatal NKH|neonatal non-ketotic hyperglycinemia ordo_clinical_subtype MONDO:0032915 long QT syndrome 16 biolink:Disease mondo OMIM:618782 http://identifiers.org/omim/618782 http://purl.obolibrary.org/obo/MONDO_0032915 Ventricular Tachycardia, Catecholaminergic Polymorphic 6|LONG QT SYNDROME 16; LQT16 HGNC:25018 TMEM216 biolink:OntologyClass mondo http://identifiers.org/hgnc/25018 MONDO:0032916 Imagawa-Matsumoto syndrome biolink:Disease mondo OMIM:618786 http://identifiers.org/omim/618786 http://purl.obolibrary.org/obo/MONDO_0032916 IMAGAWA-MATSUMOTO SYNDROME; IMMAS MONDO:0032913 congenital heart defects, multiple types, 7 biolink:Disease mondo OMIM:618780 http://identifiers.org/omim/618780 http://purl.obolibrary.org/obo/MONDO_0032913 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7 MONDO:0032914 ciliary dyskinesia, primary, 44 biolink:Disease mondo OMIM:618781 http://identifiers.org/omim/618781 http://purl.obolibrary.org/obo/MONDO_0032914 Ciliary Dyskinesia, Primary, 44, Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 44; CILD44 MONDO:0032911 deafness, autosomal dominant 75 biolink:Disease mondo OMIM:618778 http://identifiers.org/omim/618778 http://purl.obolibrary.org/obo/MONDO_0032911 DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75 MONDO:0005379 neurotic disorder biolink:Disease mondo COHD:444243|SCTID:111475002|DOID:4964|NCIT:C34848|ICD9:300.9|ICD9:300.89|ICD10:F34.1|ICD10:F48.9|EFO:0004257|MESH:D009497 A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears. SNOMEDCT:111475002|MESH:D009497|NCIT:C34848|DOID:4964 http://purl.obolibrary.org/obo/MONDO_0005379 neurotic depressive state|psychoneurosis NOS|disorders, neurotic|Psychoneuroses|disorder, neurotic|neurotic depression reactive type|neurotic depression|neuroses|psychoneurosis|neurotic disorder|neurosis|reactive depression|depressive neurosis MONDO:0032912 Coffin-Siris syndrome 11 biolink:Disease mondo OMIM:618779 http://identifiers.org/omim/618779 http://purl.obolibrary.org/obo/MONDO_0032912 COFFIN-SIRIS SYNDROME 11; CSS11 MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 biolink:Disease mondo OMIM:618776 http://identifiers.org/omim/618776 http://purl.obolibrary.org/obo/MONDO_0032910 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34 MONDO:0005376 membranous glomerulonephritis biolink:Disease mondo ICD9:583.1|UMLS:C0017665|MESH:D015433|ICD9:582.1|ICD10:N03.2|SCTID:77182004|DOID:10976|EFO:0004254|COHD:252365|NCIT:C34645 A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. UMLS:C0017665|DOID:10976|MESH:D015433|NCIT:C34645|SNOMEDCT:77182004 http://purl.obolibrary.org/obo/MONDO_0005376 membranous nephropathy|membranous Glomerulonephropathy MONDO:0005375 nasopharyngeal neoplasm biolink:Disease mondo NCIT:C3257|UMLS:C0027439|MESH:D009303|SCTID:126680004|EFO:0004252 A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma. NCIT:C3257|UMLS:C0027439|SNOMEDCT:126680004|MESH:D009303 http://purl.obolibrary.org/obo/MONDO_0005375 nasopharynx neoplasm (disease)|tumor of nasopharynx|neoplasm of the nasopharynx|nasopharyngeal tumor|nasopharynx tumor|neoplasm of nasopharynx|nasopharynx neoplasm|tumor of the nasopharynx|nasopharyngeal neoplasms MONDO:0005378 obsolete neuromyelitis optica biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005378 MONDO:0005377 nephrotic syndrome biolink:Disease mondo MESH:D009404|COHD:195314|ICD9:581|ICD10:N04|SCTID:52254009|NCIT:C34845|UMLS:C0027726|ICD9:581.9|DOID:1184|EFO:0004255 A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. UMLS:C0027726|MESH:D009404|NCIT:C34845|SNOMEDCT:52254009|DOID:1184 http://purl.obolibrary.org/obo/MONDO_0005377 syndrome, nephrotic|Finnish congenital nephrosis|syndromes, nephrotic|nephrotic syndrome|nephrotic syndromes|nephrosis MONDO:0005372 male infertility biolink:Disease mondo ICD9:606|SCTID:2904007|UMLS:C0021364|DOID:12336|ICD9:606.9|EFO:0004248|ICD10:N46.9|MESH:D007248|COHD:198197|ICD10:N46 The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. MESH:D007248|SNOMEDCT:2904007|DOID:12336|UMLS:C0021364 http://purl.obolibrary.org/obo/MONDO_0005372 infertility disorder of male reproductive system|male reproductive system infertility disorder|male reproductive system infertility MONDO:0032919 intellectual developmental disorder 62 biolink:Disease mondo OMIM:618793 http://identifiers.org/omim/618793 http://purl.obolibrary.org/obo/MONDO_0032919 Mental Retardation, Autosomal Dominant 62|INTELLECTUAL DEVELOPMENTAL DISORDER 62; MRD62 MONDO:0005371 mood disorder biolink:Disease mondo MESH:D019964|EFO:0004247|DOID:3324|ICD9:296.99|UMLS:CN236678|NCIT:C92200|ICD10:F30-F39|ICD10:F30.F39|SCTID:46206005|COHD:444100|ICD10:F39 A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature. SNOMEDCT:46206005|NCIT:C92200|DOID:3324|UMLS:CN236678|MESH:D019964 http://purl.obolibrary.org/obo/MONDO_0005371 episodic mood disorder MONDO:0005374 bone marrow neoplasm biolink:Disease mondo ICD10:D47.1|UMLS:C0282609|SCTID:414824005|ICD9:238.79|DOID:4960|MESH:D019046|NCIT:C35370 Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). SNOMEDCT:414824005|NCIT:C35370|UMLS:C0282609|MESH:D019046|DOID:4960 http://purl.obolibrary.org/obo/MONDO_0005374 bone marrow neoplasm (disease)|malignant bone marrow tumor|neoplasm of bone marrow|bone marrow cancer|tumor of bone marrow|bone marrow tumor|bone marrow neoplasm|malignant neoplasm of bone marrow MONDO:0032917 deafness, autosomal dominant 76 biolink:Disease mondo OMIM:618787 http://identifiers.org/omim/618787 http://purl.obolibrary.org/obo/MONDO_0032917 DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76 MONDO:0032918 developmental and epileptic encephalopathy, 84 biolink:Disease mondo OMIM:618792 http://identifiers.org/omim/618792 http://purl.obolibrary.org/obo/MONDO_0032918 Jamuar Syndrome|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84; EIEE84|DEE84|epileptic encephalopathy, early infantile, 84 MONDO:0005373 meningococcal infection biolink:Disease mondo SCTID:23511006|UMLS:C0025303|MESH:D008589|ICD9:036|ICD9:036.9|ICD9:036.89|EFO:0004249|ICD10:A39|GARD:0009547|GARD:0007169 Infections with bacteria of the species neisseria meningitidis. SNOMEDCT:23511006|UMLS:C0025303|MESH:D008589 http://purl.obolibrary.org/obo/MONDO_0005373 meningococcal disease|Neisseria meningitidis infection|infections, Neisseria meningitidis gard_rare MONDO:0005370 obsolete interstitial lung disease biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005370 MONDO:0020989 hereditary persistence of fetal hemoglobin biolink:Disease mondo ICD9:282.7|SCTID:191201002|NCIT:C129072|UMLS:C0019025 The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. NCIT:C129072|UMLS:C0019025|SNOMEDCT:191201002 http://purl.obolibrary.org/obo/MONDO_0020989 Hereditary persistence of fetal hemoglobin|Hemoglobin F Disease|Hb F disease|HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN|hereditary persistence of fetal hemoglobin|HPFH - Hereditary persistence of fetal hemoglobin|Hereditary Persistence of Fetal Hemoglobin|Disease, Hemoglobin F|HEMOGLOBIN F DIS MONDO:0017347 plasmablastic lymphoma biolink:Disease mondo UMLS:C3472614|MESH:D000069293|MedDRA:10065039|SCTID:724648008|ICD10:C83.3|ICDO:9735/3|NCIT:C7224|ONCOTREE:PLBL|Orphanet:289666|GARD:0012125|ICDO:9684/3 An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone. ORPHA:289666|UMLS:C3472614|MEDDRA:10065039|MESH:D000069293|SNOMEDCT:724648008|NCIT:C7224 http://purl.obolibrary.org/obo/MONDO_0017347 PBL|Plasmablastic lymphoma|PLBL ordo_disease|gard_rare MONDO:0017348 lymphoepithelial-like carcinoma biolink:Disease mondo Orphanet:289682 Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ. ORPHA:289682 http://purl.obolibrary.org/obo/MONDO_0017348 ordo_disease MONDO:0017349 myopericytoma biolink:Disease mondo Orphanet:289685|NCIT:C50401|ICDO:8713/1|ONCOTREE:MPC|UMLS:C1302808 A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course. ORPHA:289685|NCIT:C50401|UMLS:C1302808 http://purl.obolibrary.org/obo/MONDO_0017349 MPC|hemangiopericytoma|solitary myofibroma ordo_disease MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder biolink:Disease mondo MedDRA:10068349|UMLS:C2363744|Orphanet:289644 ORPHA:289644|MEDDRA:10068349|UMLS:C2363744 http://purl.obolibrary.org/obo/MONDO_0017343 EBV-associated lymphoproliferative disorder ordo_group_of_disorders MONDO:0017344 Epstein-Barr virus-associated carcinoma biolink:Disease mondo Orphanet:289651 ORPHA:289651 http://purl.obolibrary.org/obo/MONDO_0017344 EBV-associated carcinoma ordo_group_of_disorders MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor biolink:Disease mondo UMLS:CN203006|Orphanet:289656 ORPHA:289656|UMLS:CN203006 http://purl.obolibrary.org/obo/MONDO_0017345 EBV-associated mesenchymal tumor ordo_group_of_disorders HGNC:13030 ZBTB18 biolink:OntologyClass mondo http://identifiers.org/hgnc/13030 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly biolink:Disease mondo Orphanet:289661|SCTID:716788007|UMLS:C2700007|ICDO:9680/3|NCIT:C80281|ICD10:C83.3 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. ORPHA:289661|SNOMEDCT:716788007|UMLS:C2700007|NCIT:C80281 http://purl.obolibrary.org/obo/MONDO_0017346 EBV Positive diffuse large B-cell lymphoma of the elderly|Senile EBV-associated B-cell lymphoproliferative disorder|age-related EBV Positive B-cell lymphoproliferative disorder|EBV-positive DLBCL, NOS|Epstein-Barr Virus Positive DLBCL, NOS|Epstein-Barr Virus-positive diffuse large B-cell lymphoma, not otherwise specified|EBV-positive DLBCL of the elderly|EBV-positive diffuse large B-cell lymphoma, not otherwise specified|EBV-Positive diffuse large B-cell lymphoma, NOS|Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly ordo_disease MONDO:0017340 juvenile nasopharyngeal angiofibroma (disease) biolink:Disease mondo ICD10:D10.6|HP:0030429|SCTID:716590006|UMLS:CN202999|NCIT:C27479|UMLS:C1367536|Orphanet:289596 Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. UMLS:CN202999|SNOMEDCT:716590006|UMLS:C1367536|NCIT:C27479|ORPHA:289596 http://purl.obolibrary.org/obo/MONDO_0017340 JNA|nasopharyngeal angiofibroma|nasopharyngeal juvenile angiofibroma|juvenile nasopharyngeal angiofibroma ordo_disease MONDO:0017341 virus associated tumor biolink:Disease mondo Orphanet:289635|UMLS:CN203003 ORPHA:289635|UMLS:CN203003 http://purl.obolibrary.org/obo/MONDO_0017341 ordo_group_of_disorders MONDO:0017342 Epstein-Barr virus-related tumor biolink:Disease mondo Orphanet:289638|UMLS:CN203004 ORPHA:289638|UMLS:CN203004 http://purl.obolibrary.org/obo/MONDO_0017342 EBV-related tumor ordo_group_of_disorders MONDO:0032926 sandestig-stefanova syndrome biolink:Disease mondo OMIM:618804 http://identifiers.org/omim/618804 http://purl.obolibrary.org/obo/MONDO_0032926 SANDESTIG-STEFANOVA SYNDROME; SANDSTEF ECTO:0000007 exposure to visible spectrum radiation biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to visible spectrum radiation. http://purl.obolibrary.org/obo/ECTO_0000007 visible spectrum radiation exposure ECTO:0000006 exposure to ultraviolet radiation biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to ultraviolet radiation. http://purl.obolibrary.org/obo/ECTO_0000006 ultraviolet radiation exposure MONDO:0032927 triokinase and FMN cyclase deficiency syndrome biolink:Disease mondo OMIM:618805 http://identifiers.org/omim/618805 http://purl.obolibrary.org/obo/MONDO_0032927 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD MONDO:0032924 ciliary dyskinesia, primary, 45 biolink:Disease mondo OMIM:618801 http://identifiers.org/omim/618801 http://purl.obolibrary.org/obo/MONDO_0032924 CILIARY DYSKINESIA, PRIMARY, 45; CILD45|Ciliary Dyskinesia, Primary, 45, Without Situs Inversus MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital biolink:Disease mondo OMIM:618803 http://identifiers.org/omim/618803 http://purl.obolibrary.org/obo/MONDO_0032925 RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP MONDO:0005347 hypertriglyceridemia (disease) biolink:Disease mondo EFO:0004211|UMLS:C0020557|SCTID:302870006|HP:0002155|MESH:D015228 A laboratory test result indicating elevated triglyceride concentration in the blood. MESH:D015228|UMLS:C0020557|SNOMEDCT:302870006|NCIT:C37971 http://purl.obolibrary.org/obo/MONDO_0005347 hypertriglyceridemia MONDO:0032922 Beck-Fahrner syndrome biolink:Disease mondo OMIM:618798 http://identifiers.org/omim/618798 http://purl.obolibrary.org/obo/MONDO_0032922 BECK-FAHRNER SYNDROME; BEFAHRS MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 biolink:Disease mondo OMIM:618800 http://identifiers.org/omim/618800 http://purl.obolibrary.org/obo/MONDO_0032923 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 MONDO:0005346 gallstones biolink:Disease mondo EFO:0004210|SCTID:235919008|MESH:D042882|ICD9:574.20 Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin. SNOMEDCT:235919008|MESH:D042882 http://purl.obolibrary.org/obo/MONDO_0005346 MONDO:0005349 otosclerosis (disease) biolink:Disease mondo ICD10:H80.80|SCTID:11543004|OMIMPS:166800|ICD9:387.8|HP:0000362|EFO:0004213|DOID:12185|ICD9:387|COHD:439035|UMLS:C0029899|MESH:D010040|ICD10:H80.8|ICD9:387.9 Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs. MESH:D010040|SNOMEDCT:11543004|DOID:12185|UMLS:C0029899 http://purl.obolibrary.org/obo/MONDO_0005349 otosclerosis MONDO:0032920 juvenile arthritis due to defect in LACC1 biolink:Disease mondo OMIM:618795 http://identifiers.org/omim/618795 http://purl.obolibrary.org/obo/MONDO_0032920 JUVENILE ARTHRITIS; JUVAR MONDO:0005348 keloid biolink:Disease mondo EFO:0004212|MESH:D007627|NCIT:C3145|SCTID:33659008|ICD9:701.4 An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively. MESH:D007627|NCIT:C3145|SNOMEDCT:33659008 http://purl.obolibrary.org/obo/MONDO_0005348 MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation biolink:Disease mondo OMIM:618797 http://identifiers.org/omim/618797 http://purl.obolibrary.org/obo/MONDO_0032921 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT MONDO:0005343 obsolete viral human hepatitis biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0005343 MONDO:0020983 myocardial rupture biolink:Disease mondo GARD:0010468|MESH:D006341|UMLS:C0018813 Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION). MESH:D006341|UMLS:C0018813 http://purl.obolibrary.org/obo/MONDO_0020983 Cardiac Free Wall Rupture|Myocardial Rupture|Free Wall Rupture, Heart|Rupture of heart|Heart Ruptures|Heart Rupture|Ventricular Free Wall Rupture|Cardiac Ruptures|Cardiac Rupture gard_rare MONDO:0005342 IgA glomerulonephritis biolink:Disease mondo ICD9:583.9|OMIMPS:161950|SCTID:68779003|UMLS:C0017661|DOID:2986|EFO:0004194|NCIT:C34643|MESH:D005922 Inflammation of a specific segment of glomeruli within the kidney. DOID:2986|MESH:D005922|UMLS:C0017661|SNOMEDCT:68779003|NCIT:C34643 http://purl.obolibrary.org/obo/MONDO_0005342 berger's IgA or IgG nephropathy|IgA nephropathy|IgA glomerulonephritis|primary IgA nephropathy|berger's disease|segmental glomerulonephritis|focal glomerulonephritis MONDO:0005345 hypospadias (disease) biolink:Disease mondo ICD10:Q54.2|ICD10:Q54.1|MESH:D007021|ICD10:Q54.0|UMLS:C0848558|COHD:196528|NCIT:C40341|ICD9:752.61|HP:0000047|OMIMPS:300633|Orphanet:440|EFO:0004209|SCTID:416010008|ICD10:Q54.8|ICD10:Q54|DOID:10892|ICD10:Q54.9|ICD10:Q54.4|UMLS:CN205090|ICD10:Q54.3|GARD:0002929 Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. UMLS:CN205090|UMLS:C0848558|DOID:10892|NCIT:C40341|SNOMEDCT:416010008|MESH:D007021|ORPHA:440 http://purl.obolibrary.org/obo/MONDO_0005345 familial hypospadias|hypospadias|hypospadias familial ordo_morphological_anomaly MONDO:0005344 hepatitis B virus infection biolink:Disease mondo SCTID:66071002|DOID:2043|EFO:0004197|UMLS:C0019163|MESH:D006509|ICD9:070.30|NCIT:C3097 A viral infection caused by the hepatitis B virus. DOID:2043|UMLS:C0019163|MESH:D006509|NCIT:C3097|SNOMEDCT:66071002 http://purl.obolibrary.org/obo/MONDO_0005344 Hepatitis B infection|Hepatitis B virus caused hepatitis|Hepatitis B|chronic hepatitis B|Hepatitis B virus hepatitis|viral Hepatitis B|serum hepatitis|hepatitis type B|hepatitis B infection MONDO:0020980 hair nevus biolink:Disease mondo SCTID:201161009|NCIT:C3074|UMLS:C0018508 A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion. SNOMEDCT:201161009|UMLS:C0018508|NCIT:C3074 http://purl.obolibrary.org/obo/MONDO_0020980 Hairy nevus|hairy nevus|nevoid hypertrichosis|Nevoid Hypertrichosis|hair nevus|Hairy Nevus|Hair nevus|Hair Nevus|Nevoid hypertrichosis|nevoid hypertrichosis MONDO:0005341 skin basal cell carcinoma biolink:Disease mondo CSP:2000-2719|ONCOTREE:BCC|ICDO:8090/3|UMLS:C0206710|KEGG:05217|UMLS:C0751676|UMLS:C0007117|HP:0002671|SCTID:254701007|COHD:4112752|DOID:2513|EFO:0004193|NCIT:C2921 The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas. DOID:2513|NCIT:C2921|SNOMEDCT:254701007|UMLS:C0007117|UMLS:C0206710|UMLS:C0751676 http://purl.obolibrary.org/obo/MONDO_0005341 basal cell neoplasm (morphologic abnormality)|basal cell carcinoma NOS (morphologic abnormality)|basal cell skin carcinoma|malignant basal cell tumor (morphologic abnormality)|BCC|basal cell tumor (morphologic abnormality)|basal cell carcinoma of the skin|epithelioma basal cell|basal cell epithelioma|skin basal cell carcinoma|basal cell tumor|malignant basal cell tumor|Rodent ulcer|basal cell carcinoma|malignant basal cell neoplasm|basal cell cancer|basal cell carcinoma of skin|basal cell neoplasm NOS (morphologic abnormality)|skin basal cell cancer|basal cell neoplasm MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant biolink:Disease mondo OMIM:618806 http://identifiers.org/omim/618806 http://purl.obolibrary.org/obo/MONDO_0032928 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND MONDO:0005340 alopecia areata biolink:Disease mondo ICD9:704.01|MESH:D000506|GARD:0005782|EFO:0004192|DOID:986|COHD:141933|SCTID:68225006|ICD10:L63|ICD10:L63.9|UMLS:C0002171 Loss of scalp and body hair involving microscopically inflammatory patchy areas. UMLS:C0002171|SNOMEDCT:68225006|MESH:D000506|DOID:986 http://purl.obolibrary.org/obo/MONDO_0005340 patchy loss of hair|alopecia areata|circumscribed alopecia|alopecia circumscripta|alopecia Circumscripta MONDO:0044903 myelofibrosis biolink:Disease mondo NCIT:C3248 A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003 NCIT:C3248 http://purl.obolibrary.org/obo/MONDO_0044903 myelofibrosis MONDO:0044906 bladder urothelial papilloma biolink:Disease mondo NCIT:C39858 A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. NCIT:C39858 http://purl.obolibrary.org/obo/MONDO_0044906 bladder urothelial papilloma|urinary bladder urothelial papilloma|urinary bladder transitional cell papilloma|bladder transitional cell papilloma MONDO:0020979 pilosebaceous hamartoma biolink:Disease mondo NCIT:C5565 A hamartoma characterized by localized pilosebaceous apparatus malformation. NCIT:C5565 http://purl.obolibrary.org/obo/MONDO_0020979 pilosebaceous hamartoma MONDO:0020977 granulomatous prostatitis biolink:Disease mondo ICD9:601.8|UMLS:C0018204|NCIT:C26789|SCTID:61500009 An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue. NCIT:C26789|SNOMEDCT:61500009|UMLS:C0018204 http://purl.obolibrary.org/obo/MONDO_0020977 granulomatous prostatitis|Granulomatous prostatitis|Granulomatous Prostatitis MONDO:0019999 intestinal malformation biolink:Disease mondo Orphanet:97945 ORPHA:97945 http://purl.obolibrary.org/obo/MONDO_0019999 ordo_group_of_disorders MONDO:0017336 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency biolink:Disease mondo ICD10:I42.2|Orphanet:289527 ORPHA:289527 http://purl.obolibrary.org/obo/MONDO_0017336 fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency|fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency|fatal infantile HCM due to mitochondrial complex I deficiency ordo_disease MONDO:0019998 gastroduodenal malformation biolink:Disease mondo Orphanet:97944 ORPHA:97944 http://purl.obolibrary.org/obo/MONDO_0019998 ordo_group_of_disorders MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency biolink:Disease mondo ICD10:E27.1|SCTID:764960005|Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. ORPHA:289548|SNOMEDCT:764960005 http://purl.obolibrary.org/obo/MONDO_0017337 ordo_disease MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome biolink:Disease mondo UMLS:CN234684|UMLS:C3502075|Orphanet:289573|OMIMPS:605711|SCTID:720827002|GARD:0012632|MESH:C565304|UMLS:CN202994 Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual. SNOMEDCT:720827002|ORPHA:289573|UMLS:CN234684|UMLS:C3502075|UMLS:CN202994|MESH:C565304 http://purl.obolibrary.org/obo/MONDO_0017338 fatal multiple mitochondrial dysfunction syndrome|MMDS|multiple mitochondrial dysfunctions syndrome ordo_group_of_disorders MONDO:0020974 laryngeal granuloma biolink:Disease mondo ICD9:478.79|SCTID:72211003|MESH:D006102|UMLS:C0018196 A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX. SNOMEDCT:72211003|MESH:D006102|UMLS:C0018196 http://purl.obolibrary.org/obo/MONDO_0020974 Granuloma, Laryngeal|Laryngeal Granulomas|Granuloma of Larynx|Laryngeal Granuloma|laryngeal granuloma|Laryngeal granuloma|Larynx Granuloma|Larynx Granulomas|Granulomas, Laryngeal MONDO:0017339 exfoliative ichthyosis biolink:Disease mondo Orphanet:289586|ICD10:Q80.8|UMLS:C1838440 Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. UMLS:C1838440|ORPHA:289586 http://purl.obolibrary.org/obo/MONDO_0017339 ichthyosis exfoliativa|autosomal recessive exfoliative ichthyosis ordo_disease|clingen MONDO:0019995 peripheral resistance to thyroid hormones biolink:Disease mondo UMLS:C4273673|Orphanet:97927|SCTID:718193005|ICD10:E03.1|GARD:0012734|UMLS:CN206931 Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. SNOMEDCT:718193005|UMLS:CN206931|UMLS:C4273673|ORPHA:97927 http://purl.obolibrary.org/obo/MONDO_0019995 ordo_disease|gard_rare MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome biolink:Disease mondo UMLS:CN202977|Orphanet:289478|EFO:0009009 ORPHA:289478|UMLS:CN202977 http://purl.obolibrary.org/obo/MONDO_0017332 pash syndrome ordo_disease MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia biolink:Disease mondo OMIM:618808 http://identifiers.org/omim/618808 http://purl.obolibrary.org/obo/MONDO_0032930 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA MONDO:0019994 maternal uniparental disomy of chromosome 13 biolink:Disease mondo Orphanet:97678|UMLS:CN036719|ICD10:Q99.8 Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. UMLS:CN036719|ORPHA:97678 http://purl.obolibrary.org/obo/MONDO_0019994 maternal uniparental disomy of chromosome type 13|UPD(13)mat ordo_malformation_syndrome MONDO:0017333 hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism biolink:Disease mondo Orphanet:289494|UMLS:CN168056 ORPHA:289494|UMLS:CN168056 http://purl.obolibrary.org/obo/MONDO_0017333 Pol III-related leukodystrophy ordo_group_of_disorders MONDO:0017334 12q15q21.1 microdeletion syndrome biolink:Disease mondo UMLS:C4518344|SCTID:734030009|ICD10:Q93.5|UMLS:CN202984|Orphanet:289513 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. ORPHA:289513|UMLS:C4518344|SNOMEDCT:734030009|UMLS:CN202984 http://purl.obolibrary.org/obo/MONDO_0017334 deletion 12q15q21.1|Del(12)(q15)(q21.1)|monosomy 12q15q21.1 ordo_malformation_syndrome MONDO:0019997 obsolete rare gastroenterologic disease biolink:Disease mondo UMLS:CN206933|Orphanet:97935 ORPHA:97935|UMLS:CN206933 http://purl.obolibrary.org/obo/MONDO_0019997 ordo_group_of_disorders|obsoletion_candidate MONDO:0017335 microtriplication 11q24.1 biolink:Disease mondo ICD10:Q99.8|Orphanet:289522 Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. ORPHA:289522 http://purl.obolibrary.org/obo/MONDO_0017335 tetrasomy 11q24.1 ordo_malformation_syndrome MONDO:0019996 obsolete rare cardiac disease biolink:Disease mondo Orphanet:97929|UMLS:CN206932 Rare heart disease. UMLS:CN206932|ORPHA:97929 http://purl.obolibrary.org/obo/MONDO_0019996 rare heart disease ordo_group_of_disorders|obsoletion_candidate MONDO:0019991 immunotactoid glomerulopathy biolink:Disease mondo SCTID:73305009|ICD10:N03.6|Orphanet:97567|GARD:0012048|NCIT:C96182|ICD9:583.9 Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. NCIT:C96182|SNOMEDCT:73305009|ORPHA:97567 http://purl.obolibrary.org/obo/MONDO_0019991 fibrillary glomerulonephritis|Immunotactoid glomerulonephritis|FGN|fibrillary glomerulonephritis ordo_disease|gard_rare MONDO:0019990 non-amyloid fibrillary glomerulopathy biolink:Disease mondo SCTID:718192000|GARD:0012740|ICD10:N03.6|Orphanet:97566|UMLS:C4273674 Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases. SNOMEDCT:718192000|UMLS:C4273674|ORPHA:97566 http://purl.obolibrary.org/obo/MONDO_0019990 fibrillary glomerulonephritis|non-amyloid fibrillary glomerulonephritis|Congo red-negative amyloidosis-like glomerulopathy ordo_disease MONDO:0044907 metastatic squamous cell carcinoma biolink:Disease mondo UMLS:C0334246|SCTID:403906006|NCIT:C4104 A squamous cell carcinoma which has spread from its original site of growth to another anatomic site. SNOMEDCT:403906006|NCIT:C4104|UMLS:C0334246 http://purl.obolibrary.org/obo/MONDO_0044907 Metastatic squamous cell carcinoma MONDO:0017330 malignancy diagnosed during pregnancy biolink:Disease mondo Orphanet:289385|UMLS:CN227116 ORPHA:289385|UMLS:CN227116 http://purl.obolibrary.org/obo/MONDO_0017330 cancer diagnosed during pregnancy ordo_clinical_situation MONDO:0019993 congenital renal artery stenosis biolink:Disease mondo ICD10:Q27.1|Orphanet:97598|SCTID:271432005 A narrowing of renal arteries that is present since birth. UMLS:C0495523|SNOMEDCT:271432005|ORPHA:97598 http://purl.obolibrary.org/obo/MONDO_0019993 congenital renovascular hypoplasia|congenital RAS obsoletion_candidate|ordo_disease MONDO:0017331 Pilotto syndrome biolink:Disease mondo UMLS:C2931484|MESH:C537400|Orphanet:2894|GARD:0004368 Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975. UMLS:C2931484|ORPHA:2894|MESH:C537400 http://purl.obolibrary.org/obo/MONDO_0017331 cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation|cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability ordo_malformation_syndrome|gard_rare MONDO:0019992 pseudohypoparathyroidism biolink:Disease mondo ICD9:275.49|Orphanet:97593|DOID:4184|GARD:0010758|MESH:D011547|NCIT:C99027|MedDRA:10037126|SCTID:58976002|ICD10:E20.1|UMLS:C0033806 Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). MEDDRA:10037126|UMLS:C0033806|SNOMEDCT:58976002|DOID:4184|NCIT:C99027|ORPHA:97593|MESH:D011547 http://purl.obolibrary.org/obo/MONDO_0019992 gard_rare|ordo_group_of_disorders ECTO:0000015 exposure to environmental material biolink:OntologyClass mondo A exposure event involving the interaction of an exposure receptor to environmental material. http://purl.obolibrary.org/obo/ECTO_0000015 environmental material exposure MONDO:0032937 myopathy, congenital proximal, with minicore lesions biolink:Disease mondo OMIM:618823 http://identifiers.org/omim/618823 http://purl.obolibrary.org/obo/MONDO_0032937 MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive biolink:Disease mondo OMIM:618824 http://identifiers.org/omim/618824 http://purl.obolibrary.org/obo/MONDO_0032938 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 MONDO:0032935 rhizomelic limb shortening with dysmorphic features biolink:Disease mondo OMIM:618821 http://identifiers.org/omim/618821 http://purl.obolibrary.org/obo/MONDO_0032935 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures biolink:Disease mondo OMIM:618822 http://identifiers.org/omim/618822 http://purl.obolibrary.org/obo/MONDO_0032936 MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF MONDO:0005358 Dengue hemorrhagic fever biolink:Disease mondo NCIT:C34683|SCTID:20927009|ICD10:A91|DOID:12206|EFO:0004227 A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death. DOID:12206|SNOMEDCT:20927009|NCIT:C34683 http://purl.obolibrary.org/obo/MONDO_0005358 DHF|Dengue haemorrhagic fever MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant biolink:Disease mondo OMIM:618815 http://identifiers.org/omim/618815 http://purl.obolibrary.org/obo/MONDO_0032933 CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT MONDO:0005357 Creutzfeldt Jacob disease biolink:Disease mondo COHD:372241|ICD10:A81.00|MESH:D007562|ICD9:046.19|EFO:0004226|DOID:11949|NCIT:C26802|ICD9:046.1|SCTID:792004|ICD10:A81.0|GARD:0006956 A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease. MESH:D007562|NCIT:C26802|DOID:11949|SNOMEDCT:792004 http://purl.obolibrary.org/obo/MONDO_0005357 Subacute spongiform encephalopathy|transmissible virus dementia|classic Creutzfeldt-Jakob disease|Creutzfeldt Jakob disease|Creutzfeldt Jacob syndrome|Creutzfeldt-Jakob disease|CJD|CJD (Creutzfeldt Jakob disease)|Creutzfeldt-Jacob disease|Jakob-Creutzfeldt disease MONDO:0032934 genitourinary and/or brain malformation syndrome biolink:Disease mondo OMIM:618820 http://identifiers.org/omim/618820 http://purl.obolibrary.org/obo/MONDO_0032934 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal biolink:Disease mondo OMIM:618810 http://identifiers.org/omim/618810 http://purl.obolibrary.org/obo/MONDO_0032931 PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL|Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive|Phrinl Syndrome MONDO:0005359 drug-induced liver injury biolink:Disease mondo SCTID:197352008|MESH:D056486|EFO:0004228 A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment. SNOMEDCT:197352008|MESH:D056486 http://purl.obolibrary.org/obo/MONDO_0005359 drug-induced disorder of liver|drug induced hepatotoxicity MONDO:0032932 mitochondrial DNA depletion syndrome 18 biolink:Disease mondo OMIM:618811 http://identifiers.org/omim/618811 http://purl.obolibrary.org/obo/MONDO_0032932 MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 MONDO:0005354 chronic hepatitis C virus infection biolink:Disease mondo EFO:0004220|COHD:198964|ICD9:070.44|MESH:D019698 Chronic form of hepatitis C infection. MESH:D019698 http://purl.obolibrary.org/obo/MONDO_0005354 hepatitis C, chronic|hepatitis C infection, chronic|chronic Hepatitis C MONDO:0005353 obsolete marijuana dependence biolink:Disease mondo The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning. http://purl.obolibrary.org/obo/MONDO_0005353 MONDO:0005356 coronary vasospasm biolink:Disease mondo SCTID:23687008|MESH:D003329|ICD9:413.9|EFO:0004225|DOID:11840|UMLS:C0010073 Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow. DOID:11840|MESH:D003329|SNOMEDCT:23687008|NCIT:C34515|UMLS:C0010073 http://purl.obolibrary.org/obo/MONDO_0005356 coronary artery vasospasm|coronary vasospasm|coronary artery spasm MONDO:0020971 gonococcal urethritis biolink:Disease mondo SCTID:236682002|NCIT:C26787|UMLS:C0018078 Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact. UMLS:C0018078|SNOMEDCT:236682002|NCIT:C26787 http://purl.obolibrary.org/obo/MONDO_0020971 gonococcal urethritis|Gonococcal urethritis|gc urethritis MONDO:0005355 coronary restenosis biolink:Disease mondo UMLS:C0948480|DOID:4247|MESH:D023903|EFO:0004224 Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction. MESH:D023903|UMLS:C0948480|DOID:4247 http://purl.obolibrary.org/obo/MONDO_0005355 MONDO:0005350 abdominal aortic aneurysm biolink:Disease mondo UMLS:C0162871|SCTID:233985008|MESH:D017544|EFO:0004214|DOID:7693 Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs. MESH:D017544|DOID:7693|SNOMEDCT:233985008|UMLS:C0162871|NCIT:C27000 http://purl.obolibrary.org/obo/MONDO_0005350 aortic aneurysm, familial abdominal 1 MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly biolink:Disease mondo OMIM:618825 http://identifiers.org/omim/618825 http://purl.obolibrary.org/obo/MONDO_0032939 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63|Mental Retardation, Autosomal Dominant 63, With Macrocephaly MONDO:0005352 conduct disorder biolink:Disease mondo ICD9:312.9|ICD10:F91.9|NCIT:C89329|COHD:443617|ICD9:312.89|EFO:0004216|DOID:12995|MESH:D019955|ICD10:F91|SCTID:430909002 A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. MESH:D019955|DOID:12995|NCIT:C89329|SNOMEDCT:430909002 http://purl.obolibrary.org/obo/MONDO_0005352 MONDO:0005351 anorexia nervosa biolink:Disease mondo COHD:436675|SCTID:56882008|MESH:D000856|ICD9:307.1|DOID:8689|EFO:0004215|ICD10:F50.0|ICD10:F50.00|NCIT:C34387 A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. DOID:8689|NCIT:C34387|SNOMEDCT:56882008|MESH:D000856 http://purl.obolibrary.org/obo/MONDO_0005351 MONDO:0044915 salivary duct carcinoma biolink:Disease mondo NCIT:C5904|UMLS:C1301194|ONCOTREE:SDCA An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites. UMLS:C1301194|NCIT:C5904 http://purl.obolibrary.org/obo/MONDO_0044915 carcinoma of the salivary duct|high grade salivary duct carcinoma|carcinoma of salivary duct|carcinoma of duct of salivary gland|duct of salivary gland carcinoma|salivary duct carcinoma MONDO:0017329 familial vesicoureteral reflux biolink:Disease mondo SCTID:763716008|ICD10:N13.7|Orphanet:289365|UMLS:CN202969 Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. ORPHA:289365|SNOMEDCT:763716008|UMLS:CN202969 http://purl.obolibrary.org/obo/MONDO_0017329 hereditary vesicoureteral reflux (disease)|familial VUR ordo_malformation_syndrome FOODON:00003004 animal biolink:OntologyClass mondo A multicellular eukaryotic heterotrophic organism within the kingdom Animalia. http://purl.obolibrary.org/obo/FOODON_00003004 MONDO:0044917 T-lymphoblastic lymphoma biolink:Disease mondo NCIT:C6919|SCTID:421246008|EFO:1001830 The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001) NCIT:C6919|SNOMEDCT:421246008 http://purl.obolibrary.org/obo/MONDO_0044917 precursor T-lymphoblastic lymphoma|precursor T-Lymphoblastic lymphoma|precursor T-cell Lymphoblastic lymphoma|T Lymphoblastic lymphoma|T-Lymphoblastic lymphoma|T-lymphoblastic lymphoma|Precur. T-lymphoblastic lymphoma|precursor T Lymphoblastic lymphoma MONDO:0044916 extrarenal rhabdoid tumor biolink:Disease mondo NCIT:C6586|SCTID:404089007|UMLS:C1304517 A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. NCIT:C6586|SNOMEDCT:404089007|UMLS:C1304517 http://purl.obolibrary.org/obo/MONDO_0044916 malignant extrarenal rhabdoid neoplasm|rhabdoid tumor of soft tissue|extrarenal rhabdoid tumor MONDO:0019988 pauci-immune glomerulonephritis with ANCA biolink:Disease mondo Orphanet:97563|ICD10:N05.7|UMLS:CN206923 Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated. ORPHA:97563|UMLS:CN206923 http://purl.obolibrary.org/obo/MONDO_0019988 pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody ordo_clinical_subtype MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation biolink:Disease mondo Orphanet:289266|ICD10:E72.1 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. ORPHA:289266|http://identifiers.org/omim/613971 http://purl.obolibrary.org/obo/MONDO_0017325 ordo_disease MONDO:0019987 congenital and infantile nephrotic syndrome biolink:Disease mondo Orphanet:97556 ORPHA:97556 http://purl.obolibrary.org/obo/MONDO_0019987 ordo_group_of_disorders MONDO:0017326 infective dermatitis associated with HTLV-1 biolink:Disease mondo Orphanet:289347|NCIT:C129260|UMLS:CN202966|ICD10:L30.3 A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis. ORPHA:289347|NCIT:C129260|UMLS:CN202966 http://purl.obolibrary.org/obo/MONDO_0017326 isocitrate dehydrogenase Gene family|infective dermatitis associated with human T-lymphotropic virus type 1|IDH|infective dermatitis associated with human T-lymphotropic virus type I|IDH Gene family ordo_disease MONDO:0017327 primary non-gestational choriocarcinoma of ovary biolink:Disease mondo Orphanet:289356|UMLS:C4274424|SCTID:716588005|ICD10:C56|UMLS:CN202967 Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism. ORPHA:289356|UMLS:C4274424|SNOMEDCT:716588005|UMLS:CN202967 http://purl.obolibrary.org/obo/MONDO_0017327 primary non-gestational ovarian choriocarcinoma|NGCO ordo_disease MONDO:0044913 metastatic malignant neoplasm in the eye biolink:Disease mondo SCTID:94292003|UMLS:C0347019|NCIT:C4586 A malignant neoplasm that has spread to the eye from another anatomic site. UMLS:C0347019|NCIT:C4586|SNOMEDCT:94292003 http://purl.obolibrary.org/obo/MONDO_0044913 Metastatic malignant neoplasm in the eye|eye metastasis|metastasis to the eye|Metastatic tumor to the eye|metastasis to eye|Metastatic neoplasm to the eye|Metastatic malignant neoplasm to the eye|Metastases to the eye|Metastases to eye MONDO:0019989 pauci-immune glomerulonephritis without ANCA biolink:Disease mondo Orphanet:97564|ICD10:N05.7 Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer. ORPHA:97564 http://purl.obolibrary.org/obo/MONDO_0019989 pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody|antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis ordo_clinical_subtype MONDO:0044912 metastatic malignant neoplasm in the spinal cord biolink:Disease mondo SCTID:94600009|UMLS:C0347016|NCIT:C4585 A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma. UMLS:C0347016|NCIT:C4585|SNOMEDCT:94600009 http://purl.obolibrary.org/obo/MONDO_0044912 Metastatic malignant neoplasm in the spinal cord|Metastatic tumor to the spinal cord|Secondary malignant tumor to the spinal cord|metastasis to spinal cord|Secondary malignant neoplasm to the spinal cord|Metastatic neoplasm to the spinal cord|Metastatic malignant neoplasm to the spinal cord MONDO:0017328 non-central nervous system-localized embryonal carcinoma biolink:Disease mondo ICD10:C22.7|Orphanet:289362|UMLS:CN202968 ORPHA:289362|UMLS:CN202968 http://purl.obolibrary.org/obo/MONDO_0017328 non-CNS-localized embryonal carcinoma ordo_clinical_subtype MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion biolink:Disease mondo Orphanet:97367|UMLS:CN206914|ICD10:Q63.8 'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).' UMLS:CN206914|ORPHA:97367 http://purl.obolibrary.org/obo/MONDO_0019984 ordo_etiological_subtype MONDO:0032940 retinitis pigmentosa 88 biolink:Disease mondo OMIM:618826 http://identifiers.org/omim/618826 http://purl.obolibrary.org/obo/MONDO_0032940 RETINITIS PIGMENTOSA 88; RP88 MONDO:0017321 pili torti-onychodysplasia syndrome biolink:Disease mondo Orphanet:2890|UMLS:C2931483 Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. UMLS:C2931483|MESH:C537399|ORPHA:2890 http://purl.obolibrary.org/obo/MONDO_0017321 ordo_malformation_syndrome MONDO:0032941 myopia 27 biolink:Disease mondo OMIM:618827 http://identifiers.org/omim/618827 http://purl.obolibrary.org/obo/MONDO_0032941 MYOPIA 27; MYP27 MONDO:0019983 multiloculated renal cyst biolink:Disease mondo Orphanet:97366|SCTID:86463003 SNOMEDCT:86463003|ORPHA:97366 http://purl.obolibrary.org/obo/MONDO_0019983 multilocular cyst of the kidney|multilocular renal cyst ordo_morphological_anomaly MONDO:0017322 disorders of vitamin D metabolism biolink:Disease mondo Orphanet:289098|UMLS:CN202954 ORPHA:289098|UMLS:CN202954 http://purl.obolibrary.org/obo/MONDO_0017322 ordo_group_of_disorders MONDO:0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy biolink:Disease mondo Orphanet:97555|UMLS:CN206920|ICD10:N04.8 ORPHA:97555|UMLS:CN206920 http://purl.obolibrary.org/obo/MONDO_0019986 ordo_histopathological_subtype MONDO:0017323 hypocalcemic rickets biolink:Disease mondo UMLS:C4302195|Orphanet:289103|SCTID:722947004|UMLS:C4329608|NCIT:C131421 Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). NCIT:C131421|UMLS:C4302195|ORPHA:289103|SNOMEDCT:722947004|UMLS:C4329608 http://purl.obolibrary.org/obo/MONDO_0017323 calcium deficiency rickets|Calciopenic rickets ordo_group_of_disorders MONDO:0019985 drug-related renal tubular dysgenesis biolink:Disease mondo Orphanet:97368|ICD10:Q63.8 ORPHA:97368 http://purl.obolibrary.org/obo/MONDO_0019985 ordo_etiological_subtype MONDO:0017324 autosomal recessive hypophosphatemic rickets biolink:Disease mondo ICD10:E83.3|Orphanet:289176|DOID:0050949|UMLS:CN202957|SCTID:90505000 Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. DOID:0050949|ORPHA:289176|SNOMEDCT:90505000|UMLS:CN202957 http://purl.obolibrary.org/obo/MONDO_0017324 hypophosphatemic rickets, autosomal recessive|autosomal recessive hereditary hypophosphatemic rickets|ARHR|hereditary hypophosphatemic rickets, autosomal recessive ordo_disease MONDO:0044919 malignant renal pelvis neoplasm biolink:Disease mondo NCIT:C7525 A primary or metastatic malignant neoplasm that affects the renal pelvis. NCIT:C7525 http://purl.obolibrary.org/obo/MONDO_0044919 malignant tumor of the renal pelvis|malignant neoplasm of renal pelvis|renal pelvis cancer|malignant renal pelvis neoplasm|malignant renal pelvis tumor|malignant neoplasm of the renal pelvis|cancer of renal pelvis|malignant tumor of renal pelvis MONDO:0019980 renal hypoplasia, bilateral biolink:Disease mondo Orphanet:97362|SCTID:268232000|ICD10:Q60.4 Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present. SNOMEDCT:268232000|UMLS:C0431692|ORPHA:97362 http://purl.obolibrary.org/obo/MONDO_0019980 ordo_clinical_subtype HGNC:13013 KAT6A biolink:OntologyClass mondo http://identifiers.org/hgnc/13013 MONDO:0019982 bilateral multicystic dysplastic kidney biolink:Disease mondo Orphanet:97364|ICD10:Q61.4|GARD:0009517|SCTID:717749002 Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. SNOMEDCT:717749002|UMLS:C1840451|MESH:C537373|UMLS:C1567427|ORPHA:97364 http://purl.obolibrary.org/obo/MONDO_0019982 MRD|Pelvi-ureteric junction obstruction|bilateral multicystic renal dysplasia|PUJO|bilateral MCDK ordo_clinical_subtype MONDO:0019981 unilateral multicystic dysplastic kidney biolink:Disease mondo ICD10:Q61.4|Orphanet:97363 Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. UMLS:C1567426|ORPHA:97363 http://purl.obolibrary.org/obo/MONDO_0019981 unilateral MCDK|unilateral multicystic renal dysplasia ordo_clinical_subtype MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency biolink:Disease mondo Orphanet:2880|NCIT:C99015|ICD10:E74.4|ICD9:277.89|MESH:C536654|UMLS:C0268194|SCTID:5335002 Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder. UMLS:C0268194|SNOMEDCT:5335002|ORPHA:2880|NCIT:C99015|MESH:C536654 http://purl.obolibrary.org/obo/MONDO_0017320 PEPCK deficiency|phosphoenolpyruvate carboxykinase (GTP) deficiency ordo_disease HGNC:15672 ALG9 biolink:OntologyClass mondo http://identifiers.org/hgnc/15672 MONDO:0007904 median nodule of the upper lip biolink:Disease mondo OMIM:151630|SCTID:722034006|GARD:0003440|UMLS:C1835396|ICD10:Q18.8|Orphanet:2699 Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion. http://identifiers.org/omim/151630|UMLS:C1835396|SNOMEDCT:722034006|ORPHA:2699 http://purl.obolibrary.org/obo/MONDO_0007904 LIP, MEDIAN NODULE of upper ordo_malformation_syndrome|gard_rare GO:0044262 cellular carbohydrate metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044262 cellular carbohydrate metabolism|main pathways of carbohydrate metabolic process|main pathways of carbohydrate metabolism MONDO:0007905 lip, hamartomatous biolink:Disease mondo OMIM:151640|UMLS:C1835395|MESH:C563621 http://identifiers.org/omim/151640|MESH:C563621|UMLS:C1835395 http://purl.obolibrary.org/obo/MONDO_0007905 lip, hamartomatous|enlargement of Lower lip MONDO:0007902 lichen planus, familial biolink:Disease mondo UMLS:C1835402|OMIM:151620|MESH:C563624 An instance of lichen planus that is caused by an inherited modification of the individual's genome. http://identifiers.org/omim/151620|MESH:C563624|UMLS:C1835402 http://purl.obolibrary.org/obo/MONDO_0007902 hereditary lichen planus|lichen planus, familial GO:0010927 cellular component assembly involved in morphogenesis biolink:OntologyClass mondo The cellular component assembly that is part of the initial shaping of the component during its developmental progression. http://purl.obolibrary.org/obo/GO_0010927 MONDO:0007903 Li-Fraumeni syndrome 1 biolink:Disease mondo OMIM:151623|OMIM:609266|UMLS:C1836481|MESH:C563754|UMLS:C1835398 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene. http://identifiers.org/omim/151623|UMLS:C1836481|MESH:C563754|UMLS:C1835398|http://identifiers.org/omim/609266 http://purl.obolibrary.org/obo/MONDO_0007903 Li-Fraumeni syndrome 3|Li-Fraumeni-like syndrome|LFS1|Li-Fraumeni syndrome 1|Sbla syndrome|Li-Fraumeni syndrome 1; LFS1|Li-Fraumeni syndrome caused by mutation in TP53|Li-Fraumeni syndrome 3; LFS3|Li-Fraumeni syndrome; LFS|sarcoma family syndrome of 51 and Fraumeni|LFS|Li-Fraumeni syndrome type 1|LFS3|TP53 Li-Fraumeni syndrome clingen GO:0044260 cellular macromolecule metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044260 cellular biopolymer metabolic process|cellular macromolecule metabolism MONDO:0007900 nonsyndromic congenital nail disorder 3 biolink:Disease mondo MESH:C537289|OMIM:151600|SCTID:74102009|DOID:0080081|ICD9:703.8|GARD:0002555 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene. http://identifiers.org/omim/151600|SNOMEDCT:74102009|DOID:0080081|MESH:C537289 http://purl.obolibrary.org/obo/MONDO_0007900 leukonychia Striatus|leukonychia totalis and/or partialis|leukonychia totalis multiple sebaceous cysts renal calculi|Gorlin Bushkell Jensen syndrome|NDNC3|PLCD1 inherited isolated nail anomaly|nail disorder, nonsyndromic congenital, type 3|leukonychia punctata|porcelain nails|inherited isolated nail anomaly caused by mutation in PLCD1|nail disorder, nonsyndromic congenital, 3; NDNC3|nail disorder, nonsyndromic congenital, 3|nonsyndromic congenital nail disorder type 3 gard_rare UBERON:0002119 left ovary biolink:AnatomicalEntity mondo An ovary that is part of a left side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002119 MONDO:0007901 levator-medial rectus synkinesis biolink:Disease mondo UMLS:C1835403|OMIM:151610|MESH:C563625 http://identifiers.org/omim/151610|MESH:C563625|UMLS:C1835403 http://purl.obolibrary.org/obo/MONDO_0007901 oculomotor-levator synkinesis|levator-medial rectus synkinesis UBERON:0002118 right ovary biolink:AnatomicalEntity mondo An ovary that is part of a right side of organism [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002118 GO:0010921 regulation of phosphatase activity biolink:OntologyClass mondo Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/GO_0010921 GO:0010922 positive regulation of phosphatase activity biolink:OntologyClass mondo Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/GO_0010922 GO:0044267 cellular protein metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolism UBERON:2000364 hypural biolink:AnatomicalEntity mondo Laterally flattened haemal spine of an ural vertebra that lacks its arch and supports a few principal caudal lepidotrichia distally. A hypural may articulate or fuse with its ural centrum proximally or may lie ventral to the notochord. A hypural is an unpaired median bone that ossifies perichondrally. (Modified from Monod, 1968 and Arratia and Schultze, 1992). http://purl.obolibrary.org/obo/UBERON_2000364 hyp|hypuralia|hypurals GO:0010923 negative regulation of phosphatase activity biolink:OntologyClass mondo Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/GO_0010923 GO:0044264 cellular polysaccharide metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolism|cellular glycan metabolism|cellular glycan metabolic process UBERON:0004781 gall bladder lamina propria biolink:AnatomicalEntity mondo A lamina propria that is part of a gallbladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004781 lamina propria of gallbladder|gall bladder lamina propria mucosa|biliary lamina propria|lamina propria of gall bladder|gallbladder lamina propria|gallbladder lamina propria mucosa|lamina propria mucosa of gall bladder|lamina propria mucosa of gallbladder UBERON:0004782 gastrointestinal system serosa biolink:AnatomicalEntity mondo A serous membrane that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004782 gastrointestinal system serous membrane|digestive system serosa|serosa of digestive system|digestive system serous membrane|serous membrane of gastrointestinal system|serosa of gastrointestinal system|serous membrane of digestive system UBERON:0002120 pronephros biolink:AnatomicalEntity mondo In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. http://purl.obolibrary.org/obo/UBERON_0002120 archinephron|pronephron|embryonic kidney|pronephric kidney UBERON:0004780 gastrointestinal system lamina propria biolink:AnatomicalEntity mondo A lamina propria that is part of a gastrointestinal system. http://purl.obolibrary.org/obo/UBERON_0004780 HGNC:15646 KLHL7 biolink:OntologyClass mondo http://identifiers.org/hgnc/15646 UBERON:0004789 larynx mucous gland biolink:AnatomicalEntity mondo A mucous gland that is part of a larynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004789 mucous gland of larynx UBERON:0002125 thymus lobule biolink:AnatomicalEntity mondo A lobule that is part of a thymus. Divided into an outer cortex and inner medulla and separated from each other by connective tissue septa, but with the medullary tissue continuous from lobule to lobule.[ncit,modified]. http://purl.obolibrary.org/obo/UBERON_0002125 thymus lobule|lobule of thymus|thymic lobule UBERON:0002128 superior olivary complex biolink:AnatomicalEntity mondo A a collection of brainstem nuclei that functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system. http://purl.obolibrary.org/obo/UBERON_0002128 superior olivary nucleus|regio olivaris superioris|superior olive|superior olivary nucleus (Barr & Kiernan)|superior olivary nuclei|nucleus olivaris superior UBERON:0004787 urethra urothelium biolink:AnatomicalEntity mondo An urothelium that is part of a urethra [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004787 uroepithelium of urethra|urethra uroepithelium|urothelium of urethra UBERON:0004788 kidney pelvis urothelium biolink:AnatomicalEntity mondo the epithelial lining of the luminal space of the kidney pelvis http://purl.obolibrary.org/obo/UBERON_0004788 transitional epithelium of kidney pelvis|renal pelvis transitional epithelium|uroepithelium of kidney pelvis|pelvis of ureter urothelium|urothelium of pelvis of ureter|kidney pelvis uroepithelium|pelvic urothelium|uroepithelium of renal pelvis|kidney pelvis transitional epithelium|pelvis of ureter uroepithelium|transitional epithelium of renal pelvis|renal pelvis urothelium|urothelium of renal pelvis|urothelium of kidney pelvis|uroepithelium of pelvis of ureter|renal pelvis uroepithelium HGNC:2950 DNAH5 biolink:OntologyClass mondo http://identifiers.org/hgnc/2950 UBERON:0004785 respiratory system mucosa biolink:AnatomicalEntity mondo the mucous membrane lining the respiratory tract http://purl.obolibrary.org/obo/UBERON_0004785 laryngeal mucous membrane|apparatus respiratorius mucosa|respiratory system mucous membrane|mucosa of organ of respiratory system|respiratory mucosa|apparatus respiratorius mucosa of organ|mucous membrane of apparatus respiratorius|mucosa of respiratory system|mucosa of apparatus respiratorius|mucous membrane of respiratory system|respiratory tract mucosa|mucosa of organ of apparatus respiratorius|apparatus respiratorius mucous membrane|respiratory system mucosa of organ UBERON:0002122 capsule of thymus biolink:AnatomicalEntity mondo The fibrous connective tissue surrounding the thymus. http://purl.obolibrary.org/obo/UBERON_0002122 thymus capsule|thymic capsule UBERON:0004786 gastrointestinal system mucosa biolink:AnatomicalEntity mondo A mucosa that is part of a gastrointestinal system. http://purl.obolibrary.org/obo/UBERON_0004786 mucosa of gut|gut mucuous membrane|digestive tract mucosa|gut mucosa UBERON:0004783 gall bladder serosa biolink:AnatomicalEntity mondo A serous membrane that is part of a gallbladder [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004783 tunica serosa (vesica biliaris)|biliary serosa|gall bladder serous membrane|serosa of gall bladder|serosa of gallbladder|gallbladder serosa|gallbladder serous membrane|serous coat of gallbladder|serous membrane of gall bladder|serous membrane of gallbladder|tunica serosa vesicae biliaris UBERON:0002124 medulla of thymus biolink:AnatomicalEntity mondo Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size. http://purl.obolibrary.org/obo/UBERON_0002124 medulla of thymus gland|thymus gland medulla|thymus medulla UBERON:0002123 cortex of thymus biolink:AnatomicalEntity mondo the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes http://purl.obolibrary.org/obo/UBERON_0002123 thymus cortex|thymic cortex UBERON:0004784 heart ventricle wall biolink:AnatomicalEntity mondo An anatomical wall that is part of a cardiac ventricle [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004784 wall of cardiac ventricle|wall of ventricle|anatomical wall of heart ventricle|lower chamber of heart anatomical wall|ventricle of heart anatomical wall|wall of heart ventricle|cardiac ventricle anatomical wall|wall of lower chamber of heart|wall of ventricle of heart|cardiac ventricle wall|anatomical wall of lower chamber of heart|heart ventricle anatomical wall|anatomical wall of ventricle of heart|ventricle of heart wall|lower chamber of heart wall|ventricular wall|anatomical wall of cardiac ventricle MONDO:0007915 systemic lupus erythematosus (disease) biolink:Disease mondo Orphanet:536|OMIM:152700|ICD10:M32.1|ICD10:M32.9|ICD10:M32.0|ICD9:710.0|MESH:D008180|SCTID:55464009|ICD10:M32|COHD:257628|ICD10:M32.8|DOID:9074|EFO:0002690|HP:0002725|NCIT:C3201|KEGG:05322 An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. http://identifiers.org/omim/152700|DOID:9074|NCIT:C3201|SNOMEDCT:55464009|MESH:D008180|ORPHA:536 http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus|lupus erythematosus, systemic|systemic lupus erythematosus; SLE|SLE|SLE - lupus erythematosus, systemic|excess LMW-DNA|disseminated lupus erythematosus|excess lymphocyte low molecular weight DNA ordo_disease GO:0044272 sulfur compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/GO_0044272 sulfur compound biosynthesis|sulfur compound anabolism|sulfur biosynthesis|sulfur biosynthetic process|sulfur compound synthesis|sulfur compound formation MONDO:0007916 primary intestinal lymphangiectasia biolink:Disease mondo Orphanet:90362|UMLS:CN206410|SCTID:6124009|ICD9:457.1|GARD:0007873|UMLS:C0267372|OMIM:152800|ICD10:I89.0 Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children. UMLS:CN206410|http://identifiers.org/omim/152800|UMLS:C2931241|UMLS:C0267372|ORPHA:90362|SNOMEDCT:6124009|MESH:C536567 http://purl.obolibrary.org/obo/MONDO_0007916 Waldmann's disease|familial Waldmann's disease (type)|primary intestinal lymphangiectasis|Waldmann disease|lymphangiectasia, intestinal gard_rare|ordo_disease GO:0044273 sulfur compound catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/GO_0044273 sulfur compound catabolism|sulfur catabolic process|sulfur catabolism|sulfur compound degradation|sulfur compound breakdown MONDO:0007913 low density lipoprotein, variation in molecular weight of biolink:Disease mondo OMIM:152450 http://identifiers.org/omim/152450 http://purl.obolibrary.org/obo/MONDO_0007913 LOW density lipoprotein, variation in molecular weight OF GO:0044270 cellular nitrogen compound catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/GO_0044270 nitrogen compound degradation|nitrogen compound breakdown|nitrogen compound catabolism HGNC:2959 DNASE1L3 biolink:OntologyClass mondo http://identifiers.org/hgnc/2959 GO:0044271 cellular nitrogen compound biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/GO_0044271 nitrogen compound biosynthesis|nitrogen compound anabolism|nitrogen compound synthesis|nitrogen compound formation MONDO:0007914 lumbar stenosis, familial biolink:Disease mondo UMLS:C1835320|MESH:C563613|OMIM:152550 MESH:C563613|UMLS:C1835320|http://identifiers.org/omim/152550 http://purl.obolibrary.org/obo/MONDO_0007914 lumbar stenosis, familial UBERON:0002108 small intestine biolink:AnatomicalEntity mondo Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. http://purl.obolibrary.org/obo/UBERON_0002108 small intestine|mid intestine|intestinum tenue|anterior intestine|small bowel MONDO:0007911 lipoprotein, variant of beta biolink:Disease mondo OMIM:152400 http://identifiers.org/omim/152400 http://purl.obolibrary.org/obo/MONDO_0007911 lipoprotein, variant of beta|Beta-lipoprotein, Double MONDO:0007912 lithium transport biolink:Disease mondo OMIM:152420 http://identifiers.org/omim/152420 http://purl.obolibrary.org/obo/MONDO_0007912 lithium transport UBERON:0002107 liver biolink:AnatomicalEntity mondo An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. http://purl.obolibrary.org/obo/UBERON_0002107 jecur|iecur HGNC:2956 DNASE1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2956 UBERON:0004769 diaphysis biolink:AnatomicalEntity mondo Subdivision of long bone which forms the part of the bone between the two epiphyses, excluding the metaphyses[FMA,modified]. http://purl.obolibrary.org/obo/UBERON_0004769 long bone diaphysis|body of long bone|shaft of long bone HGNC:2955 DNAL4 biolink:OntologyClass mondo http://identifiers.org/hgnc/2955 UBERON:0002109 pair of nares biolink:AnatomicalEntity mondo Pair of nostrils. http://purl.obolibrary.org/obo/UBERON_0002109 nostrils|nares set|set of nares|nares|pair of nostrils MONDO:0007910 lipoprotein types--Lt system biolink:Disease mondo OMIM:152300|UMLS:C1835359 UMLS:C1835359|http://identifiers.org/omim/152300 http://purl.obolibrary.org/obo/MONDO_0007910 lipoprotein types--Lt system HGNC:2954 DNAI1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2954 UBERON:0004770 articular system biolink:AnatomicalEntity mondo Anatomical system that consists of all the joints of the body. http://purl.obolibrary.org/obo/UBERON_0004770 set of joints of body|joint system|set of all joints|set of all joints of body UBERON:0004771 posterior nasal aperture biolink:AnatomicalEntity mondo Opening/conduit between the nasal cavity and the nasopharynx[AAO] The choanae are separated by the vomer[WP]. http://purl.obolibrary.org/obo/UBERON_0004771 nasopharyngeal naris|posterior choana|choanae|posterior naris|choana|posterior nasal apperture|internal naris CHEBI:35544 EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor biolink:ChemicalSubstance mondo A compound or agent that combines with cyclooxygenases (EC 1.14.99.1) and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of icosanoids, prostaglandins, and thromboxanes. http://purl.obolibrary.org/obo/CHEBI_35544 (PG)H synthase inhibitors|EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitors|prostaglandin synthetase inhibitor|prostaglandin endoperoxide synthetase inhibitor|fatty acid cyclooxygenase inhibitor|prostaglandin G/H synthase inhibitor|cyclooxygenase inhibitor|prostaglandin synthase inhibitor|PG synthetase inhibitor|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitors|cyclooxygenase (EC 1.14.99.1) inhibitors|EC 1.14.99.1 inhibitors|cyclooxygenase (EC 1.14.99.1) inhibitor|EC 1.14.99.1 inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitor|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitors|PG synthetase inhibitors|COX inhibitor|prostaglandin G/H synthase inhibitors|prostaglandin synthase inhibitors|cyclooxygenase inhibitors|fatty acid cyclooxygenase inhibitors|prostaglandin synthetase inhibitors|prostaglandin endoperoxide synthetase inhibitors|(PG)H synthase inhibitor GO:0140053 mitochondrial gene expression biolink:OntologyClass mondo The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_0140053 GO:0140056 organelle localization by membrane tethering biolink:OntologyClass mondo The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other. http://purl.obolibrary.org/obo/GO_0140056 CHEBI:35545 bipyridine biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35545 Bipyridin|bipyridyl|bipyridine UBERON:0002115 jejunum biolink:AnatomicalEntity mondo the portion of the small intestine that extends from the duodenum to the ileum http://purl.obolibrary.org/obo/UBERON_0002115 middle intestine|intestinum jejunum|mid-intestine UBERON:0004778 larynx submucosa biolink:AnatomicalEntity mondo A submucosa that is part of a larynx [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004778 laryngeal submucosa|submucosa of larynx UBERON:0004779 respiratory system lamina propria biolink:AnatomicalEntity mondo A lamina propria that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004779 respiratory system lamina propria mucosa|lamina propria mucosa of apparatus respiratorius|lamina propria of respiratory system|lamina propria of apparatus respiratorius|lamina propria mucosa of respiratory system|apparatus respiratorius lamina propria mucosa|apparatus respiratorius lamina propria UBERON:0002114 duodenum biolink:AnatomicalEntity mondo The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). http://purl.obolibrary.org/obo/UBERON_0002114 upper intestine|proximal intestine UBERON:0004777 respiratory system submucosa biolink:AnatomicalEntity mondo A submucosa that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004777 apparatus respiratorius submucosa|submucosa of apparatus respiratorius|submucosa of respiratory system HGNC:2961 DYNC1H1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2961 UBERON:0002116 ileum biolink:AnatomicalEntity mondo the portion of the small intestine that extends from the jejunum to the colon http://purl.obolibrary.org/obo/UBERON_0002116 intestinum ileum|distal intestine|lower intestine|posterior intestine MONDO:0007908 multiple symmetric lipomatosis biolink:Disease mondo GARD:0006957|OMIM:151800|UMLS:C0023804|NCIT:C4392|Orphanet:2398|EFO:1000737|DOID:14116|SCTID:238902007|UMLS:C0024445|UMLS:CN201658|ICD10:E88.8 Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). DOID:14116|UMLS:C0024445|http://identifiers.org/omim/151800|UMLS:C0023804|SNOMEDCT:238902007|UMLS:C2931642|NCIT:C4392|ORPHA:2398|UMLS:CN201658 http://purl.obolibrary.org/obo/MONDO_0007908 Launois-Bensaude lipomatosis|benign symmetrical lipomatosis|familial symmetric lipomatosis|Madelung's neck|lipodystrophy, cephalothoracic|lipomatosis, multiple symmetric; MSL|cephalothoracic lipodystrophy|multiple symmetrical lipomatosis|multiple symmetric lipomatosis|MSL|cervical symmetrical lipomatosis|Launois-Bensaude syndrome|Launois-Bensaude's lipomatosis|Madelung's disease|familial benign cervical lipomatosis|lipomatosis, familial benign cervical|Madelung disease|lipomatosis, multiple symmetric gard_rare|ordo_disease UBERON:0002111 artery smooth muscle tissue biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of an artery [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002111 artery smooth muscle|artery smooth muscle tissue|arterial smooth muscle|arterial smooth muscle cell|smooth muscle of artery UBERON:0004774 inferior eyelid tarsus biolink:AnatomicalEntity mondo An eyelid tarsus that is part of a lower eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004774 tarsus of lower eyelid|tarsus inferior|inferior tarsal plate|inferior tarsus|inferior tarsus of eyelid|tarsal plate of lower eyelid UBERON:0002110 gall bladder biolink:AnatomicalEntity mondo An organ that aids digestion and stores bile produced by the liver[WP]. http://purl.obolibrary.org/obo/UBERON_0002110 gallbladder|vesica biliaris|vesica fellea|gall bladder MONDO:0007909 familial multiple lipomatosis biolink:Disease mondo SCTID:766888002|ICD9:214.8|ICD10:E88.2|Orphanet:199276|ICD9:214.9|OMIM:151900|GARD:0012925 Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. ORPHA:199276|http://identifiers.org/omim/151900|SNOMEDCT:766888002 http://purl.obolibrary.org/obo/MONDO_0007909 lipomatosis, multiple|lipoma|lipomatosis, familial multiple ordo_disease MONDO:0007906 familial partial lipodystrophy, Dunnigan type biolink:Disease mondo SCTID:715439000|OMIM:151660|ORDO:2348|GARD:3126|GARD:0003126|ICD10:E88.1|Orphanet:2348|DOID:0070202 Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. http://identifiers.org/omim/151660|UMLS:C1720860|DOID:0070202|SNOMEDCT:715439000|ORPHA:2348 http://purl.obolibrary.org/obo/MONDO_0007906 FPL2|reverse partial lipodystrophy|lipodystrophy, familial, of limbs and Lower trunk|Dunnigan syndrome|lipodystrophy, reverse partial|familial lipodystrophy of limbs and lower trunk|familial partial lipodystrophy Dunnigan type|lipoatrophic diabetes|lipodystrophy, familial partial, type 2; FPLD2|lipodystrophy, familial partial, Dunnigan type|familial partial lipodystrophy type 2|FPLD2|lipodystrophy, familial partial, type 2 ordo_disease UBERON:0002113 kidney biolink:AnatomicalEntity mondo A paired organ of the urinary tract which has the production of urine as its primary function. http://purl.obolibrary.org/obo/UBERON_0002113 reniculate kidney UBERON:0004772 eyelid tarsus biolink:AnatomicalEntity mondo The tarsi (tarsal plates) are two comparatively thick, elongated plates of dense connective tissue, about 2.5 cm. in length; one is found in each eyelid, and contributes to its form and support. They directly abut the lid margins. http://purl.obolibrary.org/obo/UBERON_0004772 tarsi|tarsus palpebralis|tarsal plate|tarsal plate of eyelid|eyelid tarsi UBERON:0002112 smooth muscle of esophagus biolink:AnatomicalEntity mondo A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002112 non-striated muscle of gullet|non-striated muscle of esophagus|involuntary muscle of oesophagus|involuntary muscle of gullet|oesophagus smooth muscle|smooth muscle of oesophagus|esophagus involuntary muscle|smooth muscle tissue of oesophagus|gullet involuntary muscle|smooth muscle of gullet|oesophagus involuntary muscle|smooth muscle tissue of gullet|esophagus smooth muscle tissue|gullet smooth muscle tissue|oesophagus non-striated muscle|gullet non-striated muscle|esophageal smooth muscle|oesophagus smooth muscle tissue|esophagus non-striated muscle|smooth muscle tissue of esophagus|gullet smooth muscle|esophagus smooth muscle|non-striated muscle of oesophagus|involuntary muscle of esophagus UBERON:0004773 superior eyelid tarsus biolink:AnatomicalEntity mondo An eyelid tarsus that is part of a upper eyelid [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004773 superior tarsus|superior tarsus of eyelid|tarsus of upper eyelid|tarsus superior|superior tarsal plate|tarsal plate of upper eyelid MONDO:0007907 lipoma of the conjunctiva biolink:Disease mondo OMIM:151700|MESH:C563620|UMLS:C1835373 http://identifiers.org/omim/151700|MESH:C563620|UMLS:C1835373 http://purl.obolibrary.org/obo/MONDO_0007907 lipoma of the conjunctiva GO:0010907 positive regulation of glucose metabolic process biolink:OntologyClass mondo Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. http://purl.obolibrary.org/obo/GO_0010907 positive regulation of glucose metabolism GO:0044283 small molecule biosynthetic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthesis GO:0044281 small molecule metabolic process biolink:OntologyClass mondo The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolism GO:0010906 regulation of glucose metabolic process biolink:OntologyClass mondo Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. http://purl.obolibrary.org/obo/GO_0010906 regulation of glucose metabolism GO:0044282 small molecule catabolic process biolink:OntologyClass mondo The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolism HGNC:15626 FCGR2C biolink:OntologyClass mondo http://identifiers.org/hgnc/15626 UBERON:0004760 gland of anal canal biolink:AnatomicalEntity mondo A gland that is part of an anal canal [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004760 rectal gland|anal sac|anal gland|gland of anus|gland of anal canal HGNC:15625 NBAS biolink:OntologyClass mondo http://identifiers.org/hgnc/15625 UBERON:0002104 visual system biolink:AnatomicalEntity mondo The sensory system subserving the sense of vision. http://purl.obolibrary.org/obo/UBERON_0002104 visual organ system|photosensory system UBERON:0004768 bone of lower jaw biolink:AnatomicalEntity mondo Any bone that is part of the lower jaw skeleton. This includes (when present): the dentary/mandible, the articular, the splenial, the suprangular http://purl.obolibrary.org/obo/UBERON_0004768 lower jaw bone UBERON:0002103 hindlimb biolink:AnatomicalEntity mondo A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts. http://purl.obolibrary.org/obo/UBERON_0002103 inferior member|free part of lower limb|membrum inferius|hind limb|pelvic appendage|hindlimb|hind-limb|membrum inferius|free lower limb|lower extremity|lower limb HGNC:2974 DNM2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2974 UBERON:0002106 spleen biolink:AnatomicalEntity mondo the organ that functions to filter blood and to store red corpuscles and platelets http://purl.obolibrary.org/obo/UBERON_0002106 lien HGNC:2973 DNM1L biolink:OntologyClass mondo http://identifiers.org/hgnc/2973 UBERON:0004765 skeletal element biolink:AnatomicalEntity mondo Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. http://purl.obolibrary.org/obo/UBERON_0004765 UBERON:0002105 vestibulo-auditory system biolink:AnatomicalEntity mondo Sensory system responsible for the perception of spatial orientation and auditory stimuli. http://purl.obolibrary.org/obo/UBERON_0002105 vestibuloauditory system|auditory system|vestibuloauditory system|auditory/vestibular system|auditory organ system UBERON:0004766 cranial bone biolink:AnatomicalEntity mondo A bone that is part of a cranium. http://purl.obolibrary.org/obo/UBERON_0004766 cranium bone HGNC:2972 DNM1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2972 GO:0009913 epidermal cell differentiation biolink:OntologyClass mondo The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis. http://purl.obolibrary.org/obo/GO_0009913 hypodermal cell differentiation UBERON:0002100 trunk biolink:AnatomicalEntity mondo Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. http://purl.obolibrary.org/obo/UBERON_0002100 Rumpf|torso|trunk region|thoracolumbar region GO:0009914 hormone transport biolink:OntologyClass mondo The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0009914 UBERON:0002102 forelimb biolink:AnatomicalEntity mondo A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts. http://purl.obolibrary.org/obo/UBERON_0002102 membrum superius|forelimb|pectoral limb|foreleg|pectoral flipper|superior member|anteriormost limb|upper extremity|fore limb|free upper limb|upper limb|free part of upper limb UBERON:0004761 cartilaginous neurocranium biolink:AnatomicalEntity mondo The primitive cartilagionous skeletal structure of the fetal skull that grows to envelop the rapidly growing embyonic brain. In humans, the chondrocranium begins forming at 28 days from mesenchymal condensations and is fully formed between week 7 and 9 of fetal development. While the majority of the chondrocranium is succeeded by the bony skull in most higher vertebrates, some components do persist into adulthood.[1] In Cartilagious fishes and Agnathans, the chondrocranium persist throughout life.[2] Embryologically, the chondrocranium represent the basal cranial structure, and lay the base for the formation of the endocranium in higher vertebrates[WP]. http://purl.obolibrary.org/obo/UBERON_0004761 embryonic chondocranium|cartilaginous skull|cartilaginous chondocranium|neurocranium|chondocranium|cartiligionous skeletal structure of skull UBERON:0002101 limb biolink:AnatomicalEntity mondo A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. http://purl.obolibrary.org/obo/UBERON_0002101 extremities|pentadactyl limb|limb sensu Vertebrata|free limb|flipper|extremity|tetrapod limb HGNC:2979 DNMT3B biolink:OntologyClass mondo http://identifiers.org/hgnc/2979 HGNC:2978 DNMT3A biolink:OntologyClass mondo http://identifiers.org/hgnc/2978 HGNC:2976 DNMT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2976 GO:0010911 regulation of isomerase activity biolink:OntologyClass mondo Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. http://purl.obolibrary.org/obo/GO_0010911 GO:0010912 positive regulation of isomerase activity biolink:OntologyClass mondo Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. http://purl.obolibrary.org/obo/GO_0010912 CHEBI:35524 sympathomimetic agent biolink:ChemicalSubstance mondo A drug that mimics the effects of stimulating postganglionic adrenergic sympathetic nerves. Included in this class are drugs that directly stimulate adrenergic receptors and drugs that act indirectly by provoking the release of adrenergic transmitters. http://purl.obolibrary.org/obo/CHEBI_35524 sympathomimetics|sympathomimetic CHEBI:35523 bronchodilator agent biolink:ChemicalSubstance mondo An agent that causes an increase in the expansion of a bronchus or bronchial tubes. http://purl.obolibrary.org/obo/CHEBI_35523 bronchodilator|bronchodilator agents|broncholytic agent UBERON:0004756 dermal skeletal element biolink:AnatomicalEntity mondo dermis-derived entity that is made of skeletal tissue. http://purl.obolibrary.org/obo/UBERON_0004756 dermal element UBERON:0004755 skeletal tissue biolink:AnatomicalEntity mondo A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO] http://purl.obolibrary.org/obo/UBERON_0004755 UBERON:0004753 scapulocoracoid biolink:AnatomicalEntity mondo Skeletal element that consists of the scapula and the coracoid[VSAO, modified]. http://purl.obolibrary.org/obo/UBERON_0004753 coraco-scapular cartilage|scapulocoracoid cartilage|scapulo-coracoid cartilage|scapulocoracoideum NCBITaxon:1653394 Mammarenavirus organism taxon mondo GC_ID:1 http://purl.obolibrary.org/obo/NCBITaxon_1653394 MONDO:0007948 marfanoid hypermobility syndrome biolink:Disease mondo OMIM:154750|MESH:C531742|UMLS:C0268365|GARD:0003387 UMLS:C0268365|MESH:C531742|http://identifiers.org/omim/154750 http://purl.obolibrary.org/obo/MONDO_0007948 marfanoid hypermobility syndrome gard_rare MONDO:0007949 Marshall syndrome biolink:Disease mondo ICD9:759.89|UMLS:C0265235|GARD:0006984|SCTID:33410002|OMIM:154780|NCIT:C128115|MESH:C536025|Orphanet:560|ICD10:Q87.0 Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. SNOMEDCT:33410002|MESH:C536025|UMLS:C0265235|NCIT:C128115|http://identifiers.org/omim/154780|ORPHA:560 http://purl.obolibrary.org/obo/MONDO_0007949 Marshall syndrome|Marshall syndrome; MRSHS|MRSHS|deafness, myopia, cataract, saddle nose-Marshall type ordo_malformation_syndrome MONDO:0007946 jaw-winking syndrome biolink:Disease mondo Orphanet:91412|GARD:0006972|DOID:560|MESH:C535908|OMIM:154600|MedDRA:10064583|ICD9:374.43|SCTID:5127009|UMLS:C0266521|ICD9:742.8|ICD10:Q07.8 Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis. SNOMEDCT:5127009|ORPHA:91412|UMLS:C0266521|http://identifiers.org/omim/154600|DOID:560|MEDDRA:10064583|MESH:C535908 http://purl.obolibrary.org/obo/MONDO_0007946 abnormal innervation syndrome of eyelid|Marcus-Gunn syndrome|mandibulo-palpebral synkinesis-ptosis syndrome|Marcus-Gunn phenomenon|pterygoid-levator synkinesis|jaw-blinking|jaw-winking|Marcus Gunn syndrome|jaw-winking syndrome|familial Marcus Gunn phenomenon (subtype)|Maxillopalpebral synkinesis|Marcus Gunn phenomenon ordo_disease MONDO:0007947 Marfan syndrome biolink:Disease mondo UMLS:C0024796|COHD:258540|DOID:14323|OMIM:154700|Orphanet:284963|MESH:D008382|ICD9:759.82|ICD10:Q87.40|ICD10:Q87.4|Orphanet:558|UMLS:CN202883|GARD:0006975|NCIT:C34807|MedDRA:10026829|SCTID:19346006 Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. SNOMEDCT:19346006|MEDDRA:10026829|UMLS:CN202883|http://identifiers.org/omim/154700|MESH:D008382|ORPHA:558|DOID:14323|NCIT:C34807|ORPHA:284963|UMLS:C0024796 http://purl.obolibrary.org/obo/MONDO_0007947 MFS1|Marfan's syndrome|Marfan syndrome type 1|MFS|Marfan syndrome; MFS|Marfan syndrome|Marfan syndrome, type 1 clingen|ordo_disease|gard_rare|ordo_clinical_subtype|prototype_pattern MONDO:0007944 Treacher-Collins syndrome 1 biolink:Disease mondo UMLS:CN119605|OMIM:154500 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene. UMLS:C0242387|UMLS:CN119605|http://identifiers.org/omim/154500 http://purl.obolibrary.org/obo/MONDO_0007944 TCOF1 Treacher-Collins syndrome|TREACHER COLLINS syndrome 1; TCS1|Treacher-Collins syndrome caused by mutation in TCOF1|Treacher Collins syndrome|Treacher Collins syndrome type 1|Treacher Collins-Franceschetti syndrome|mandibulofacial dysostosis|TREACHER COLLINS syndrome 1|TCS1 MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type biolink:Disease mondo MESH:C563601|UMLS:C1835134|OMIM:154570 http://identifiers.org/omim/154570|MESH:C563601|UMLS:C1835134 http://purl.obolibrary.org/obo/MONDO_0007945 phosphodiester glycoside deficiency|mannose 6-phosphate receptor recognition defect, Lebanese type MONDO:0007942 Mammastatin biolink:Disease mondo OMIM:154370 http://identifiers.org/omim/154370 http://purl.obolibrary.org/obo/MONDO_0007942 Mammastatin HGNC:2988 DOCK2 biolink:OntologyClass mondo http://identifiers.org/hgnc/2988 MONDO:0007943 Nager acrofacial dysostosis biolink:Disease mondo MESH:C538184|UMLS:C0265245|DOID:5768|GARD:0000498|OMIM:154400|Orphanet:245|ICD10:Q75.4|SCTID:35520007 Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. MESH:C538184|SNOMEDCT:35520007|http://identifiers.org/omim/154400|UMLS:C0265245|ORPHA:245|DOID:5768 http://purl.obolibrary.org/obo/MONDO_0007943 preaxial acrodysostosis|split hand deformity-mandibulofacial dysostosis|preaxial acrofacial dysostosis|Nager acrofacial dysostosis syndrome|Nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|mandibulofacial dysostosis, Treacher Collins type, with limb anomalies|AFD1|preaxial manibulofacial dysostosis|Nager acrofacial dysostosis|AFD, Nager type|AFD|NAFD|acrofacial dysostosis 1, Nager type; AFD1|acrofacial dysostosis 1, Nager type gard_rare|ordo_malformation_syndrome MONDO:0007940 malignant hyperthermia, susceptibility to, 3 biolink:Disease mondo OMIM:154276|MESH:C535696|GARD:0003365 http://identifiers.org/omim/154276|MESH:C535696 http://purl.obolibrary.org/obo/MONDO_0007940 malignant hyperpyrexia susceptibility type 3|malignant hyperthermia, susceptibility to, 3|malignant hyperthermia, susceptibility to, type 3|Mhs3|MHS3|malignant hyperthermia susceptibility type 3 gard_rare|predisposition MONDO:0007941 malocclusion due to protuberant upper front teeth biolink:Disease mondo OMIM:154300 http://identifiers.org/omim/154300 http://purl.obolibrary.org/obo/MONDO_0007941 malocclusion due to protuberant upper front teeth MONDO:0019929 49,XXXXY syndrome biolink:Disease mondo Orphanet:96264|ICD10:Q98.1|SCTID:38847009|UMLS:C0265499|ICD9:758.81|GARD:0005679 The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. SNOMEDCT:38847009|UMLS:C0265499|ORPHA:96264 http://purl.obolibrary.org/obo/MONDO_0019929 49,XXXXY|XXXXY syndrome ordo_malformation_syndrome|gard_rare MONDO:0019937 rare gynecologic or obstetric disease biolink:Disease mondo UMLS:CN206853|Orphanet:96344 ORPHA:96344|UMLS:CN206853 http://purl.obolibrary.org/obo/MONDO_0019937 obsoletion_candidate|ordo_group_of_disorders MONDO:0019936 rare otorhinolaryngological malformation biolink:Disease mondo UMLS:CN227722|Orphanet:96333 UMLS:CN227722|ORPHA:96333 http://purl.obolibrary.org/obo/MONDO_0019936 obsoletion_candidate|ordo_group_of_disorders MONDO:0019939 early-onset schizophrenia biolink:Disease mondo ICD10:F20.8|Orphanet:96369 ORPHA:96369 http://purl.obolibrary.org/obo/MONDO_0019939 ordo_disease MONDO:0019938 anorectal malformation biolink:Disease mondo SCTID:33225004|Orphanet:96346|MESH:C537771|ICD9:751.5 SNOMEDCT:33225004|MESH:C537771|ORPHA:96346 http://purl.obolibrary.org/obo/MONDO_0019938 ordo_group_of_disorders MONDO:0019933 acromegaly biolink:Disease mondo MedDRA:10000599|DOID:2449|ICD10:E22.0|NCIT:C84533|UMLS:C0001206|GARD:0005725|EFO:1001485|Orphanet:963|SCTID:74107003|MESH:D000172 Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. MEDDRA:10000599|SNOMEDCT:74107003|UMLS:C0001206|MESH:D000172|ORPHA:963|DOID:2449|NCIT:C84533 http://purl.obolibrary.org/obo/MONDO_0019933 Growth hormone excess|pituitary giant|somatotroph adenoma ordo_disease|gard_rare MONDO:0019932 isolated partial vaginal agenesis biolink:Disease mondo SCTID:87380008|Orphanet:96269|COHD:4337688|ICD10:Q52.0 Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal. ORPHA:96269|SNOMEDCT:87380008 http://purl.obolibrary.org/obo/MONDO_0019932 congenital absence of vagina ordo_morphological_anomaly MONDO:0019935 isochromosome Y biolink:Disease mondo Orphanet:96325|ICD10:Q98.6 ORPHA:96325 http://purl.obolibrary.org/obo/MONDO_0019935 Isochromosome type Y ordo_group_of_disorders MONDO:0019934 polyploidy biolink:Disease mondo MESH:D011123|SCTID:72991005|ICD10:Q92.7|Orphanet:96321 The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. UMLS:C0032578|MESH:D011123|SNOMEDCT:72991005|ORPHA:96321 http://purl.obolibrary.org/obo/MONDO_0019934 ordo_group_of_disorders UBERON:0002169 alveolar sac biolink:AnatomicalEntity mondo The small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters http://purl.obolibrary.org/obo/UBERON_0002169 sacculus alveolaris|air sac|pulmonary alveolar sac HGNC:2995 DPAGT1 biolink:OntologyClass mondo http://identifiers.org/hgnc/2995 MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance biolink:Disease mondo UMLS:CN206848|Orphanet:96266|ICD10:Q56.1 ORPHA:96266|UMLS:CN206848 http://purl.obolibrary.org/obo/MONDO_0019931 46,XY DSD due to partial LH resistance|46,XY DSD due to partial LH receptor inactivation|Leydig cell hypoplasia due to partial luteinizing hormone resistance|46,XY disorder of sex developement due to partial LH receptor inactivation|46,XY DSD due to partial luteinizing hormone resistance|46,XY disorder of sex developement due to partial luteinizing hormone resistance|Leydig cell hypoplasia due to partial LH receptor inactivation|46,XY disorder of sex developement due to partial LH resistance|Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation ordo_clinical_subtype MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance biolink:Disease mondo UMLS:CN206847|ICD10:Q56.1|Orphanet:96265 ORPHA:96265|UMLS:CN206847 http://purl.obolibrary.org/obo/MONDO_0019930 Leydig cell hypoplasia due to complete LH receptor inactivation|46,XY disorder of sex development due to complete LH resistance|46,XY DSD due to complete luteinizing hormone resistance|46,XY DSD due to complete LH resistance|46,XY disorder of sex development due to complete luteinizing hormone resistance|Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation|Leydig cell hypoplasia due to complete luteinizing hormone resistance|46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation|46,XY DSD due to complete LH receptor inactivation|46,XY DSD due to complete luteinizing hormone receptor inactivation|46,XY disorder of sex development due to complete LH receptor inactivation ordo_clinical_subtype UBERON:0002166 endocardium of atrium biolink:AnatomicalEntity mondo Endocardium that is part of the atrium. http://purl.obolibrary.org/obo/UBERON_0002166 endocardium of atrium of heart|cardiac atrium endocardium|endocardium of heart atrium|atrial endocardium|Cardiac atria endocardium|atrium endocardium|atrium endocardial tissue|endocardium of cardiac atrium|endocardium of Cardiac atria|heart atrium endocardium|atrium of heart endocardium HGNC:2993 DONSON biolink:OntologyClass mondo http://identifiers.org/hgnc/2993 UBERON:0002165 endocardium biolink:AnatomicalEntity mondo The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. http://purl.obolibrary.org/obo/UBERON_0002165 endocardial tissue|heart endocardium|endocardial lining|heart endocardial tissue MONDO:0007939 malignant hyperthermia, susceptibility to, 2 biolink:Disease mondo MESH:C535695|GARD:0003364|OMIM:154275 http://identifiers.org/omim/154275|MESH:C535695 http://purl.obolibrary.org/obo/MONDO_0007939 malignant hyperthermia susceptibility type 2|malignant hyperthermia, susceptibility to, type 2|Mhs2|malignant hyperpyrexia susceptibility type 2|malignant hyperthermia, susceptibility to, 2|MHS2 clingen|gard_rare|predisposition UBERON:0002168 left lung biolink:AnatomicalEntity mondo Lung which consists of the left upper lobe and left lower lobe.[FMA] http://purl.obolibrary.org/obo/UBERON_0002168 UBERON:0002167 right lung biolink:AnatomicalEntity mondo Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] http://purl.obolibrary.org/obo/UBERON_0002167 MONDO:0007959 medulloblastoma biolink:Disease mondo ICDO:9470/3|DOID:0050902|ICD10:C71.6|MedDRA:10027107|UMLS:C0025149|DOID:0060104|ONCOTREE:MBL|SCTID:443333004|MESH:D008527|NCIT:C3222|UMLS:C1334410|OMIM:155255|EFO:0002939|GARD:0007005|Orphanet:616 A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. NCIT:C3222|UMLS:C1334410|http://identifiers.org/omim/155255|UMLS:C0025149|SNOMEDCT:443333004|ORPHA:616|MESH:D008527|DOID:0050902|DOID:0060104|MEDDRA:10027107 http://purl.obolibrary.org/obo/MONDO_0007959 medulloblastoma|medulloblastoma, Desmoplastic|MDB|medulloblastoma with extensive nodularity|medulloblastoma, malignant|CNS PNET|CPNET|cerebellar medulloblastoma|cerebellum embryonal neoplasm|localized primitive neuroectodermal tumor|brain medulloblastoma|infratentorial primitive neuroectodermal tumor|Medulloblastomas|medulloblastoma; MDB gard_rare|ordo_disease MONDO:0007957 mediosternal depigmentation line biolink:Disease mondo OMIM:155200 http://identifiers.org/omim/155200 http://purl.obolibrary.org/obo/MONDO_0007957 mediosternal depigmentation line MONDO:0007958 familial medullary thyroid carcinoma biolink:Disease mondo MESH:C536911|DOID:0050547|Orphanet:99361|ICD10:C73|UMLS:C1833921|OMIM:155240 An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome. http://identifiers.org/omim/155240|ORPHA:99361|UMLS:C1833921|DOID:0050547|MESH:C536911 http://purl.obolibrary.org/obo/MONDO_0007958 thyroid carcinoma, familial medullary|hereditary medullary thyroid gland carcinoma|hereditary thyroid medullary carcinoma|MTC|familial MTC|thyroid carcinoma, familial medullary; MTC|thyroid carcinoma, familial medullary|Fmtc|Mtc1 ordo_clinical_subtype MONDO:0007955 Meckel diverticulum biolink:Disease mondo ICD9:751.0|SCTID:37373007|EFO:1001036|NCIT:C12264|DOID:9487|MESH:D008467|OMIM:155140|ICD10:Q43.0|COHD:441394|MedDRA:10027055 A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. http://identifiers.org/omim/155140|MESH:D008467|SNOMEDCT:37373007|DOID:9487|NCIT:C12264 http://purl.obolibrary.org/obo/MONDO_0007955 Meckel diverticulum|Meckel diverticulum|persistent vitelline duct|Meckel's diverticulum MONDO:0007956 Pai syndrome biolink:Disease mondo GARD:0003439|Orphanet:1993|OMIM:155145|ICD10:Q87.8|MESH:C536135|UMLS:C1835087|SCTID:722201004 Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. http://identifiers.org/omim/155145|MESH:C536135|SNOMEDCT:722201004|ORPHA:1993|UMLS:C1835087 http://purl.obolibrary.org/obo/MONDO_0007956 Pai syndrome|median cleft of upper lip with polyps of facial skin and nasal mucosa|cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa|median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome|cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa gard_rare|ordo_malformation_syndrome MONDO:0007953 binder syndrome biolink:Disease mondo MESH:C536036|GARD:0006992|UMLS:C0220692|DOID:14683|Orphanet:1248|SCTID:715985008|ICD10:Q75.8|OMIM:155050 Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. ORPHA:1248|MESH:C536036|DOID:14683|UMLS:C0220692|http://identifiers.org/omim/155050|SNOMEDCT:715985008 http://purl.obolibrary.org/obo/MONDO_0007953 MAXILLONASAL dysplasia, BINDER type|Binder syndrome|binder type maxillonasal dysplasia|maxillonasal dysplasia|Maxillonasal dysostosis|binder syndrome ordo_malformation_syndrome MONDO:0007954 May-Hegglin anomaly biolink:Disease mondo Orphanet:1984|UMLS:CN226018|Orphanet:850|NCIT:C131639|OMIM:155100|UMLS:C1834478|Orphanet:807|OMIM:605249|GARD:0000179|UMLS:C0403445|OMIM:600208|MESH:C537831|NCIT:C131646|UMLS:C0398641|NCIT:C131642|SCTID:236422008|ICD9:759.89|UMLS:CN226030|SCTID:234485006|Orphanet:1019|NCIT:C131650|OMIM:153640|UMLS:CN226270|SCTID:234484005|OMIM:153650|ICD9:582.89 An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. http://identifiers.org/omim/155100|UMLS:CN226018|UMLS:CN226030|http://identifiers.org/omim/600208|UMLS:CN226270|ORPHA:1019|SNOMEDCT:236422008|UMLS:C0398641|http://identifiers.org/omim/153640|http://identifiers.org/omim/153650|ORPHA:1984|MESH:C537831|ORPHA:807|ORPHA:850|UMLS:C0403445|http://identifiers.org/omim/605249|NCIT:C131650|NCIT:C131646|NCIT:C131642|NCIT:C131639|SNOMEDCT:234485006|SNOMEDCT:234484005|UMLS:C1834478 http://purl.obolibrary.org/obo/MONDO_0007954 Sebastian syndrome|Dohle leukocyte inclusions with giant platelets|May-Hegglin anomaly|matins|macrothrombocytopenia with leukocyte inclusions|Brodie Chole griffin syndrome|macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions|bleeding disorder, Platelet-type, 6|Fechtner syndrome; FTNS|macrothrombocytopenia and progressive sensorineural deafness|FTNS|MHA|macrothrombocytopenia with dispersed leukocytic inclusions|May-Hegglin thrombocytopenia|macrothrombocytopenia, nephritis, and deafness|giant platelet syndrome with thrombocytopenia|Epstein syndrome|Sebastian syndrome; SBS|macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; matins|Sebastian Platelet syndrome|Alport syndrome with macrothrombocytopenia, formerly|May-Hegglin anomaly; MHA|macrothrombocytopenia progressive deafness|Fechtner syndrome|Alport syndrome with macrothrombocytopenia|macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|SBS gard_rare MONDO:0007951 masticatory muscles, hypertrophy of biolink:Disease mondo MESH:C563600|SCTID:699649006|OMIM:154850 http://identifiers.org/omim/154850|MESH:C563600|SNOMEDCT:699649006 http://purl.obolibrary.org/obo/MONDO_0007951 masseter muscle Hypertrophy|masticatory muscles, hypertrophy of MONDO:0007952 maxillofacial dysostosis biolink:Disease mondo MESH:C563599|OMIM:155000|UMLS:C1835088|GARD:0006991 MESH:C563599|UMLS:C1835088|http://identifiers.org/omim/155000 http://purl.obolibrary.org/obo/MONDO_0007952 maxillofacial dysostosis gard_rare CHEBI:35508 steroid fundamental parent biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35508 steroid fundamental parents MONDO:0007950 mastocytosis biolink:Disease mondo NCIT:C84269|ICD10:Q82.2|GARD:0006987|ICD10:C96.2|Orphanet:98292|MedDRA:10026891|MESH:D008415|UMLS:C0024899|ICD10:D47.0|ONCOTREE:MCD|DOID:350|OMIM:154800 A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. DOID:350|ORPHA:98292|http://identifiers.org/omim/154800|MESH:D008415|UMLS:C0024899|NCIT:C84269|MEDDRA:10026891 http://purl.obolibrary.org/obo/MONDO_0007950 mast cell hyperplasia|mastocytosis|Mast cell disease|MAST cell disease|urticaria pigmentosa ordo_group_of_disorders CHEBI:35507 natural product fundamental parent biolink:ChemicalSubstance mondo http://purl.obolibrary.org/obo/CHEBI_35507 natural product fundamental parents MONDO:0019919 maternal uniparental disomy of chromosome 22 biolink:Disease mondo Orphanet:96188|ICD10:Q99.8 ORPHA:96188 http://purl.obolibrary.org/obo/MONDO_0019919 maternal uniparental disomy of chromosome type 22|UPD(22)mat ordo_malformation_syndrome MONDO:0019918 maternal uniparental disomy of chromosome 21 biolink:Disease mondo Orphanet:96187|ICD10:Q99.8 ORPHA:96187 http://purl.obolibrary.org/obo/MONDO_0019918 maternal uniparental disomy of chromosome type 21|UPD(21)mat ordo_malformation_syndrome MONDO:0019926 X small rings biolink:Disease mondo SCTID:766760004|ICD10:Q99.8|Orphanet:96201 X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. ORPHA:96201|SNOMEDCT:766760004 http://purl.obolibrary.org/obo/MONDO_0019926 ordo_malformation_syndrome MONDO:0019925 paternal uniparental disomy of chromosome 21 biolink:Disease mondo Orphanet:96195|ICD10:Q99.8|SCTID:766720000 Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. ORPHA:96195|SNOMEDCT:766720000 http://purl.obolibrary.org/obo/MONDO_0019925 paternal uniparental disomy of chromosome type 21|UPD(21)pat ordo_malformation_syndrome MONDO:0019928 48,XXXY syndrome biolink:Disease mondo Orphanet:96263|UMLS:C0265498|NCIT:C89799|SCTID:78317008|MedDRA:10048228|ICD9:758.81|GARD:0005676|ICD10:Q98.1 The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. MEDDRA:10048228|NCIT:C89799|UMLS:C0265498|SNOMEDCT:78317008|ORPHA:96263 http://purl.obolibrary.org/obo/MONDO_0019928 48, XXXY syndrome|XXXY syndrome gard_rare|ordo_malformation_syndrome MONDO:0019927 growth hormone-producing pituitary gland neoplasm biolink:Disease mondo UMLS:C0278864|NCIT:C7911 An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone. UMLS:C0278864|NCIT:C7911 http://purl.obolibrary.org/obo/MONDO_0019927 growth hormone producing tumor of pituitary|growth hormone secreting neoplasm of the pituitary gland|growth hormone secreting neoplasm of pituitary gland|growth hormone secreting neoplasm of the pituitary|growth hormone secreting pituitary gland tumor|growth hormone secreting tumor of the pituitary gland|growth hormone secreting tumor of pituitary gland|growth hormone secreting neoplasm of pituitary|somatotropinoma|growth hormone secreting pituitary tumor|Growth hormone-producing pituitary gland tumor|growth hormone secreting tumor of the pituitary|growth hormone producing neoplasm of the pituitary gland|growth hormone secreting tumor of pituitary|growth hormone producing neoplasm of pituitary gland|somatotroph tumor|growth hormone producing pituitary gland tumor|growth hormone producing pituitary neoplasm|growth hormone producing neoplasm of the pituitary|growth hormone producing neoplasm of pituitary|growth hormone producing pituitary gland neoplasm|growth hormone producing pituitary tumor|somatotropinoma of the pituitary gland|pituitary gland somatotropinoma|somatotroph neoplasm|somatotropinoma of pituitary gland|pituitary somatotropinoma|growth hormone producing tumor|growth hormone secreting pituitary neoplasm|growth hormone-producing pituitary gland neoplasm|somatotropinoma of the pituitary|somatotropinoma of pituitary|growth hormone producing tumor of the pituitary gland|growth hormone producing tumor of pituitary gland|growth hormone secreting pituitary gland neoplasm|growth hormone producing tumor of the pituitary MONDO:0019922 paternal uniparental disomy of chromosome 7 biolink:Disease mondo Orphanet:96192|SCTID:766721001|ICD10:Q99.8 Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). SNOMEDCT:766721001|ORPHA:96192 http://purl.obolibrary.org/obo/MONDO_0019922 paternal uniparental disomy of chromosome type 7|UPD(7)pat ordo_malformation_syndrome MONDO:0019921 paternal uniparental disomy of chromosome 6 biolink:Disease mondo Orphanet:96191|ICD10:Q99.8 Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. ORPHA:96191 http://purl.obolibrary.org/obo/MONDO_0019921 paternal uniparental disomy of chromosome type 6|UPD(6)pat ordo_malformation_syndrome MONDO:0019924 paternal uniparental disomy of chromosome 20 biolink:Disease mondo SCTID:715736008|ICD10:Q99.8|Orphanet:96194|UMLS:C4275028 Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. UMLS:C4275028|ORPHA:96194|SNOMEDCT:715736008 http://purl.obolibrary.org/obo/MONDO_0019924 paternal UPD20|paternal uniparental disomy of chromosome type 20|UPD(20)pat|paternal UPD(20) ordo_malformation_syndrome GO:0140014 mitotic nuclear division biolink:OntologyClass mondo A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. http://purl.obolibrary.org/obo/GO_0140014 mitosis GO:0140013 meiotic nuclear division biolink:OntologyClass mondo One of the two nuclear divisions that occur as part of the meiotic cell cycle. http://purl.obolibrary.org/obo/GO_0140013 meiosis MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 biolink:Disease mondo Orphanet:96193|ICD10:Q87.3|UMLS:CN206842 ORPHA:96193|UMLS:CN206842 http://purl.obolibrary.org/obo/MONDO_0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11|UPD(11)pat|Mosaic paternal uniparental disomy of chromosome 11 ordo_etiological_subtype MONDO:0019920 paternal uniparental disomy of chromosome 5 biolink:Disease mondo Orphanet:96190|ICD10:Q99.8 Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. ORPHA:96190 http://purl.obolibrary.org/obo/MONDO_0019920 paternal uniparental disomy of chromosome type 5|UPD(5)pat ordo_malformation_syndrome MONDO:0007926 Waldenstrom macroglobulinemia biolink:Disease mondo OMIM:153600|UMLS:C0024419|ICD10:C88.0|MESH:D008258|Orphanet:33226|GARD:0007872|MedDRA:10047801|DOID:0060901|NCIT:C80307|ONCOTREE:WM Waldenstrom macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. DOID:0060901|ORPHA:33226|NCIT:C80307|MESH:D008258|http://identifiers.org/omim/153600|MEDDRA:10047801|UMLS:C0024419 http://purl.obolibrary.org/obo/MONDO_0007926 lymphoplasmacytic lymphoma with IgM gammopathy|WM1|macroglobulinemia of Waldenstrom|macroglobulinemia, WALDENSTROM, susceptibility to, 1|Waldenstrom's macroglobulinemia|macroglobulinemia, Waldenstrom, somatic|Waldenström macroglobulinemia|macroglobulinemia, WALDENSTROM, susceptibility to, 1; WM1|Waldenstrom's syndrome|Waldenstrom's macroglobulinaemia|Waldenstroem's macroglobulinemia|Waldenstrom macroglobulinemia ordo_disease|predisposition MONDO:0007927 congenital macroglossia biolink:Disease mondo MESH:C531735|OMIM:153630|ICD9:750.15|SCTID:270516002|Orphanet:2430|ICD10:Q38.2 MESH:C531735|ORPHA:2430|UMLS:C0009677|http://identifiers.org/omim/153630|SNOMEDCT:270516002 http://purl.obolibrary.org/obo/MONDO_0007927 macroglossia ordo_malformation_syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome biolink:Disease mondo ICD10:Q87.8|OMIM:153480|SCTID:21984008|DOID:0050657|ICD9:759.6|NCIT:C3939|GARD:0005887|UMLS:C0265326|Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. NCIT:C3939|ORPHA:109|UMLS:C0265326|http://identifiers.org/omim/153480|DOID:0050657|SNOMEDCT:21984008 http://purl.obolibrary.org/obo/MONDO_0007924 Bannayan-Riley-Ruvalcaba syndrome|Myhre-Riley-Smith syndrome|RILEY-SMITH syndrome|Bannayan syndrome|Riley-Smith syndrome|macrocephaly with multiple lipomas and hemangiomas|macrocephaly multiple lipomas and hemangiomata|macrocephaly pseudopapilledema and multiple hemangiomas|Ruvalcaba-MYHRE-SMITH syndrome|Ruvalcaba-Myhre-Smith syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|macrocephaly, multiple lipomas, and hemangiomata|BZS|RMSS|BRRS|Bannayan-RILEY-Ruvalcaba syndrome; BRRS|Bannayan-Zonana syndrome|Ruvalcaba -Myhre-Smith syndrome ordo_malformation_syndrome|gard_rare MONDO:0007925 chromosome 5q deletion syndrome biolink:Disease mondo UMLS:CN206233|GARD:0008723|NCIT:C6867|ICD10:D46.7|DOID:0090016|SCTID:277597005|Orphanet:86841|ICDO:9986/3|MESH:C535323|OMIM:153550|COHD:136950 A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) NCIT:C6867|ORPHA:86841|SNOMEDCT:277597005|http://identifiers.org/omim/153550|MESH:C535323|DOID:0090016|UMLS:CN206233 http://purl.obolibrary.org/obo/MONDO_0007925 5Q minus syndrome|myelodysplastic syndrome with 5q deletion|5q deletion syndrome|macrocytic Anemia, refractory, due to 5Q deletion|5q- syndrome, refractory macrocytic anemia due to 5q deletion|MAR|5q- syndrome|megakaryocytes, unilobular nucleated|refractory macrocytic anemia due to 5q deletion|5q syndrome|myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality|chromosome 5q deletion syndrome|myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality|5Q- syndrome|myelodysplastic syndrome with isolated del(5q) ordo_disease MONDO:0007922 lymphedema-distichiasis syndrome biolink:Disease mondo OMIM:153400|SCTID:8634009|UMLS:C0265345|NCIT:C128191|MESH:C537710|ICD10:Q82.0|GARD:0000333|ICD9:743.63|Orphanet:33001 Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations. ORPHA:33001|UMLS:C0265345|NCIT:C128191|http://identifiers.org/omim/153400|MESH:C537710|SNOMEDCT:8634009 http://purl.obolibrary.org/obo/MONDO_0007922 lymphedema with distichiasis|lymphedema-distichiasis syndrome with renal disease and diabetes mellitus|hereditary lymphedema-distichiasis syndrome (subtype)|lymphedema-distichiasis syndrome ordo_malformation_syndrome|gard_rare MONDO:0007923 macrocephaly, benign familial biolink:Disease mondo MESH:C537717|OMIM:153470|GARD:0000147 MESH:C537717|http://identifiers.org/omim/153470 http://purl.obolibrary.org/obo/MONDO_0007923 macrocephaly, benign familial|benign familial macrocephaly|Cole-Hughes syndrome|benign familial megalencephaly gard_rare MONDO:0007920 Meige disease biolink:Disease mondo GARD:0003324|ORDO:90186|MESH:C562467|Orphanet:90186|MedDRA:10027138|DOID:0070213|SCTID:400040008|OMIM:153200|GARD:3324|ICD10:Q82.0 Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty. MESH:C562467|DOID:0070213|ORPHA:90186|http://identifiers.org/omim/153200|UMLS:C0025183|SNOMEDCT:400040008|MEDDRA:10027138|UMLS:C1704425|UMLS:C1704424 http://purl.obolibrary.org/obo/MONDO_0007920 LMPH2|lymphedema, late-onset|lymphedema, hereditary, II; LMPH2|Meige disease|late-onset primary lymphedema|late-onset lymphedema|lymphedema, hereditary, II|lymphedema hereditary type 2|hereditary lymphedema type II|lymphedema preacox|Meige lymphedema|lymphedema praecox ordo_disease MONDO:0007921 yellow nail syndrome biolink:Disease mondo MESH:D056684|GARD:0000184|SCTID:400211001|ICD9:703.8|ICD10:L60.5|NCIT:C85238|DOID:0050468|EFO:1001452|MedDRA:10048244|OMIM:153300|Orphanet:662|UMLS:C0221348|ICD9:757.0 Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. MESH:D056684|MEDDRA:10048244|SNOMEDCT:400211001|http://identifiers.org/omim/153300|DOID:0050468|ORPHA:662|UMLS:C0221348|NCIT:C85238 http://purl.obolibrary.org/obo/MONDO_0007921 lymphedema and Yellow nails|YNS|yellow nail syndrome|Yns|lymphedema with yellow nails ordo_disease|gard_rare NCBITaxon:68336 Bacteroidetes/Chlorobi group organism taxon mondo GC_ID:11 http://purl.obolibrary.org/obo/NCBITaxon_68336 Cytophagales/Green sulfur bacteria group|CFB/Green sulfur bacteria group|CFB/Chlorobi group MONDO:0019908 ring chromosome 15 biolink:Disease mondo MESH:C538035|Orphanet:96177|SCTID:763405000|UMLS:CN035931|ICD10:Q93.2|GARD:0001328 Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists. ORPHA:96177|SNOMEDCT:763405000|UMLS:C2931703|UMLS:CN035931|MESH:C538035 http://purl.obolibrary.org/obo/MONDO_0019908 chromosome 15 ring|Ring 15|Ring chromosome type 15|R15|Ring chromosome 15 syndrome ordo_malformation_syndrome|gard_rare MONDO:0019907 ring chromosome 13 biolink:Disease mondo Orphanet:96176|GARD:0006069|ICD10:Q93.2|SCTID:726723004|MESH:C538303 Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. UMLS:C2931808|SNOMEDCT:726723004|MESH:C538303|ORPHA:96176 http://purl.obolibrary.org/obo/MONDO_0019907 R13|Ring chromosome type 13|Ring chromosome 13 syndrome|chromosome 13 ring|Ring 13 gard_rare|ordo_malformation_syndrome MONDO:0019909 ring chromosome 16 biolink:Disease mondo SCTID:763406004|Orphanet:96178|ICD10:Q93.2|GARD:0010855 Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature. ORPHA:96178|SNOMEDCT:763406004 http://purl.obolibrary.org/obo/MONDO_0019909 Ring chromosome 16 syndrome|R16|Ring chromosome type 16|Ring 16|chromosome 16 ring ordo_malformation_syndrome|gard_rare MONDO:0019915 maternal uniparental disomy of chromosome 14 biolink:Disease mondo Orphanet:96184|ICD10:Q99.8 Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum). ORPHA:96184 http://purl.obolibrary.org/obo/MONDO_0019915 maternal uniparental disomy of chromosome type 14|UPD(14)mat ordo_etiological_subtype MONDO:0019914 maternal uniparental disomy of chromosome 9 biolink:Disease mondo ICD10:Q99.8|Orphanet:96183|SCTID:766240006 Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. SNOMEDCT:766240006|ORPHA:96183 http://purl.obolibrary.org/obo/MONDO_0019914 UPD(9)mat|maternal uniparental disomy of chromosome type 9 ordo_malformation_syndrome MONDO:0019917 maternal uniparental disomy of chromosome 20 biolink:Disease mondo SCTID:715735007|OMIM:617352|ICD10:Q99.8|Orphanet:96186 Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. http://identifiers.org/omim/617352|SNOMEDCT:715735007|ORPHA:96186 http://purl.obolibrary.org/obo/MONDO_0019917 maternal UPD(20)|uniparental disomy, maternal, chromosome 20|maternal uniparental disomy of chromosome type 20|UPD(20)mat|MBCS|MULCHANDANI-BHOJ-CONLIN syndrome; MBCS ordo_malformation_syndrome MONDO:0019916 maternal uniparental disomy of chromosome 16 biolink:Disease mondo Orphanet:96185|ICD10:Q99.8 ORPHA:96185 http://purl.obolibrary.org/obo/MONDO_0019916 maternal uniparental disomy of chromosome type 16|UPD(16)mat ordo_malformation_syndrome MONDO:0019911 maternal uniparental disomy of chromosome 4 biolink:Disease mondo ICD10:Q99.8|Orphanet:96180|SCTID:766238001 Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. SNOMEDCT:766238001|ORPHA:96180 http://purl.obolibrary.org/obo/MONDO_0019911 UPD(4)mat|maternal uniparental disomy of chromosome type 4 ordo_malformation_syndrome MONDO:0019910 maternal uniparental disomy of chromosome 2 biolink:Disease mondo SCTID:766237006|ICD10:Q99.8|Orphanet:96179 Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. SNOMEDCT:766237006|ORPHA:96179 http://purl.obolibrary.org/obo/MONDO_0019910 UPD(2)mat|maternal uniparental disomy of chromosome type 2 ordo_malformation_syndrome MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 biolink:Disease mondo Orphanet:96182|ICD10:Q87.1|UMLS:CN206841 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). UMLS:CN206841|ORPHA:96182 http://purl.obolibrary.org/obo/MONDO_0019913 Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7|UPD(7)mat ordo_etiological_subtype MONDO:0019912 maternal uniparental disomy of chromosome 6 biolink:Disease mondo ICD10:Q99.8|SCTID:766239009|Orphanet:96181 Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. SNOMEDCT:766239009|ORPHA:96181 http://purl.obolibrary.org/obo/MONDO_0019912 UPD(6)mat|maternal uniparental disomy of chromosome type 6 ordo_malformation_syndrome UBERON:0002148 locus ceruleus biolink:AnatomicalEntity mondo The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]. http://purl.obolibrary.org/obo/UBERON_0002148 locus coeruleus (Vicq d'Azyr)|loci coeruleus|nucleus caeruleus|substantia ferruginea|nucleus of locus caeruleus|caerulean nucleus|locus coeruleu|locus coeruleus|locus caeruleus|nucleus pigmentosus pontis|blue nucleus|locus cinereus|nucleus loci caerulei UBERON:0002149 superior salivatory nucleus biolink:AnatomicalEntity mondo Nucleus containing parasympathetic neurons giving rise to the parasympathetic division of the facial nerve, innervating the salivary glands (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 703). http://purl.obolibrary.org/obo/UBERON_0002149 nucleus salivatorius superior|nucleus salivatorius rostralis|nucleus salivarius superior|nucleus salivatorius cranialis|superior salivary nucleus MONDO:0007919 lymphedema, hereditary, 1A biolink:Disease mondo DOID:0070210|OMIM:153100 Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene. DOID:0070210|http://identifiers.org/omim/153100 http://purl.obolibrary.org/obo/MONDO_0007919 lymphedema, hereditary, IA; LMPH1A|Milroy disease|FLT4 hereditary lymphedema|lymphedema, hereditary, IA|lymphedema, early-onset|hereditary lymphedema caused by mutation in FLT4|LMPH1A|primary congenital lymphedema|lymphedema, hereditary, type 1A|Nonne-Milroy lymphedema MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome biolink:Disease mondo UMLS:C1835272|GARD:0009217|MESH:C563612|Orphanet:86914|OMIM:152900 Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. http://identifiers.org/omim/152900|MESH:C563612|UMLS:C1835272|ORPHA:86914 http://purl.obolibrary.org/obo/MONDO_0007917 lymphedema and cerebral arteriovenous anomaly|primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet ordo_malformation_syndrome UBERON:0002146 pulmonary valve biolink:AnatomicalEntity mondo the semilunar valve of the heart that lies between the right ventricle and the pulmonary artery. http://purl.obolibrary.org/obo/UBERON_0002146 valva trunci pulmonalis|pulmonic valve MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation biolink:Disease mondo GARD:0003622|MESH:C537711|ICD10:Q87.8|UMLS:C1835265|OMIM:152950|DOID:0060349|Orphanet:2526 Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. http://identifiers.org/omim/152950|DOID:0060349|UMLS:C1835265|ORPHA:2526|MESH:C537711 http://purl.obolibrary.org/obo/MONDO_0007918 Cdmmr syndrome|lymphedema, microcephaly, chorioretinopathy syndrome|MCLMR|microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant|microcephaly, lymphedema, chorioretinal dysplasia syndrome|MLCRD|microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability; MCLMR|Mlcrd syndrome|lymphedema and retinal folds with ficrocephaly and microphthalmos|microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|lymphedema and retinal Folds with microcephaly and microphthalmos|lymphedema, microcephaly and chorioretinopathy syndrome|chorioretinal dysplasia-microcephaly-mental retardation syndrome|microcephaly with or without chorioretinopathy, lymphedema, or mental retardation|microcephaly-lymphedema-chorioretinopathy syndrome|chorioretinal dysplasia-microcephaly-intellectual disability syndrome|microcephaly lymphedema chorioretinal dysplasia|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; MCLMR ordo_malformation_syndrome MONDO:0007937 renal hypomagnesemia 2 biolink:Disease mondo Orphanet:34528|ICD10:E83.4|OMIM:154020|GARD:0003350|UMLS:C4511005|MESH:C537152|DOID:0060885|UMLS:C1835171|SCTID:725393000 Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. UMLS:C1835171|DOID:0060885|ORPHA:34528|http://identifiers.org/omim/154020|MESH:C537152|SNOMEDCT:725393000|UMLS:C4511005 http://purl.obolibrary.org/obo/MONDO_0007937 isolated autosomal dominant hypomagnesemia|magnesium wasting, renal|isolated renal magnesium wasting|hypomagnesemia 2, renal|HOMG2|magnesium loss, isolated renal|familial primary hypomagnesemia caused by mutation in FXYD2|primary hypomagnesemia caused by mutation in FXYD2|autosomal dominant primary hypomagnesemia with hypocalciuria|FXYD2 primary hypomagnesemia|FXYD2 familial primary hypomagnesemia|renal hypomagnesemia type 2|hypomagnesemia 2, renal; HOMG2 gard_rare|ordo_disease MONDO:0007938 46,XY sex reversal 4 biolink:Disease mondo MESH:C567887|OMIM:154230|NCIT:C132270 Sex reversal in an individual associated with a 9p24.3 deletion. http://identifiers.org/omim/154230|MESH:C567887|NCIT:C132270 http://purl.obolibrary.org/obo/MONDO_0007938 46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion|46,XY sex reversal 4|46,XY SEX reversal 4; SRXY4|46,XY Sex reversal type 4|chromosome 9P24.3 deletion syndrome|SRXY4 MONDO:0007935 cystoid macular edema biolink:Disease mondo NCIT:C34794|UMLS:C0730317|DOID:4447|ICD10:H35.5|Orphanet:75381|SCTID:312921000|UMLS:C0024440|OMIM:153880 Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis. UMLS:C0730317|ORPHA:75381|SNOMEDCT:312921000|DOID:4447|NCIT:C34794|UMLS:C0024440|http://identifiers.org/omim/153880 http://purl.obolibrary.org/obo/MONDO_0007935 DCMD|familial macular edema|macular edema, cystoid|autosomal dominant cystoid macular edema|cystoid macular dystrophy|macular dystrophy, dominant cystoid; DCMD|macular dystrophy, dominant cystoid|Mddc ordo_disease MONDO:0007936 macular dystrophy, fenestrated sheen type biolink:Disease mondo UMLS:C1835173|OMIM:153890|MESH:C563607 UMLS:C1835173|MESH:C563607|http://identifiers.org/omim/153890 http://purl.obolibrary.org/obo/MONDO_0007936 macular dystrophy, fenestrated sheen type MONDO:0007933 vitelliform macular dystrophy 1 biolink:Disease mondo OMIM:153840|MESH:C537832|GARD:0010120 MESH:C537832|http://identifiers.org/omim/153840 http://purl.obolibrary.org/obo/MONDO_0007933 VMD1|macular dystrophy, vitelliform, 1|macular dystrophy, vitelliform, 1; VMD1|macular dystrophy, atypical vitelliform|vitelliform macular dystrophy, atypical MONDO:0007934 benign concentric annular macular dystrophy biolink:Disease mondo OMIM:153870|Orphanet:251287|UMLS:C4304667|ICD10:H35.5|MESH:C537833|SCTID:719520001|GARD:0009887 Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration. UMLS:C1828210|UMLS:C4304667|MESH:C537833|http://identifiers.org/omim/153870|SNOMEDCT:719520001|ORPHA:251287 http://purl.obolibrary.org/obo/MONDO_0007934 macular dystrophy, concentric annular|macular dystrophy, benign concentric annular|Mcdca|maculopathy, bull's eye ordo_disease UBERON:0002129 cerebellar cortex biolink:AnatomicalEntity mondo The superficial gray matter of the cerebellum. It consists of three main layers, the molecular layer, the Purkinje cell layer and the granule cell layer. http://purl.obolibrary.org/obo/UBERON_0002129 cortex cerebellaris|cortex cerebelli|cortex of cerebellar hemisphere MONDO:0007931 vitelliform macular dystrophy 2 biolink:Disease mondo ICD10:H35.5|Orphanet:1243|GARD:0000182|SCTID:763387005|GARD:0010301|OMIM:153700 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. ORPHA:1243|http://identifiers.org/omim/153700|SNOMEDCT:763387005 http://purl.obolibrary.org/obo/MONDO_0007931 macular degeneration, polymorphic vitelline|Best disease|early-onset vitelliform macular dystrophy|BMD|macular dystrophy, vitelliform, 2|macular dystrophy, vitelliform, 2; VMD2|macular dystrophy, vitelliform, type 2|vitelliform macular dystrophy, early-onset|vitelliform macular dystrophy type 2|BEST1 retinopathy|vitelliform macular dystrophy, juvenile-onset|vitelliform macular dystrophy, early-onset|vitelliform macular dystrophy, juvenile-onset|Best macular dystrophy|vitelliform macular dystrophy, type 2|polymorphic vitelline macular degeneration|Best vitelliform macular dystrophy, multifocal|macular degeneration, polymorphic vitelline|juvenile-onset vitelliform macular dystrophy|VMD2|BVMD|macular Degeneration, polymorphic vitelline ordo_disease|gard_rare MONDO:0007932 age related macular degeneration 2 biolink:Disease mondo UMLS:C3495438|MESH:C562479|OMIM:153800|DOID:0110015 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. UMLS:C3495438|DOID:0110015|http://identifiers.org/omim/153800|MESH:C562479 http://purl.obolibrary.org/obo/MONDO_0007932 macular Degeneration, Senile|ARMD2|age related macular degeneration type 2|macular degeneration, age-related, 2|maculopathy, age-related, 2|macular Degeneration, age-related, type 2|macular degeneration, age-related, 2; ARMD2 FOODON:03411607 nut or edible seed producing plant biolink:OntologyClass mondo http://purl.obolibrary.org/obo/FOODON_03411607 MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant biolink:Disease mondo OMIM:153670|UMLS:C3277076|DOID:0111059 A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p. DOID:0111059|http://identifiers.org/omim/153670|UMLS:C3277076 http://purl.obolibrary.org/obo/MONDO_0007930 Bernard-Soulier syndrome, type A2, autosomal dominant|BSSA2|Bernard-Soulier syndrome, type A2, autosomal dominant; BSSA2|Bernard-Soulier syndrome type A2 GO:0140039 cell-cell adhesion in response to extracellular stimulus biolink:OntologyClass mondo The attachment of one cell to another cell via adhesion molecules as a result of an extracellular stimulus. http://purl.obolibrary.org/obo/GO_0140039 MONDO:0019904 ring chromosome 3 biolink:Disease mondo GARD:0010839|ICD10:Q93.2|SCTID:765486004|NCIT:C121982|Orphanet:96172|UMLS:C4050314 Gene expression cluster 3 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia. UMLS:C4050314|SNOMEDCT:765486004|NCIT:C121982|ORPHA:96172 http://purl.obolibrary.org/obo/MONDO_0019904 Ring chromosome 3 syndrome|R3|rose cluster 3|chromosome 3 ring|Ring 3|Ring chromosome type 3 gard_rare|ordo_malformation_syndrome UBERON:0004792 secretion of endocrine pancreas biolink:AnatomicalEntity mondo A secretion that is part of a endocrine pancreas [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004792 endocrine pancreas secretion|pars endocrina pancreatis secretion|pancreatic endocrine secretion|secretion of pars endocrina pancreatis UBERON:0004793 secretion of exocrine pancreas biolink:AnatomicalEntity mondo A secretion that is part of a exocrine pancreas [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004793 pancreatic exocrine secretion|pars exocrina pancreatis secretion|exocrine pancreas secretion|secretion of pars exocrina pancreatis MONDO:0019903 ring chromosome 2 biolink:Disease mondo ICD10:Q93.2|GARD:0010837|Orphanet:96171|NCIT:C121981|SCTID:765485000|UMLS:C4050313 Gene expression cluster 2 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia. UMLS:C4050313|NCIT:C121981|SNOMEDCT:765485000|ORPHA:96171 http://purl.obolibrary.org/obo/MONDO_0019903 Ring chromosome 2 syndrome|R2|chromosome 2 ring|rose cluster 2|Ring 2|Ring chromosome type 2 gard_rare|ordo_malformation_syndrome UBERON:0004790 skin mucous gland biolink:AnatomicalEntity mondo A mucous gland that is part of the skin. http://purl.obolibrary.org/obo/UBERON_0004790 mucous gland of skin of body|mucous gland of entire skin|skin of body mucous gland|skin mucus gland MONDO:0019906 ring chromosome 11 biolink:Disease mondo ICD9:758.89|Orphanet:96175|EFO:0002849|UMLS:C0265444|GARD:0010846|ICD10:Q93.2|SCTID:111310003 SNOMEDCT:111310003|UMLS:C0265444|ORPHA:96175 http://purl.obolibrary.org/obo/MONDO_0019906 RC11|chromosome 11 ring|Ring chromosome 11 syndrome|Ring chromosome type 11|r11|r(11) syndrome|Ring 11 gard_rare|ordo_malformation_syndrome MONDO:0019905 ring chromosome 9 biolink:Disease mondo MESH:C538022|ICD10:Q93.2|Orphanet:96173|UMLS:CN036105|GARD:0001348|SCTID:60650002 UMLS:CN036105|SNOMEDCT:60650002|UMLS:C2931693|MESH:C538022|UMLS:C0265430|ORPHA:96173 http://purl.obolibrary.org/obo/MONDO_0019905 r9|chromosome 9 ring|Ring chromosome type 9|Ring chromosome 9 syndrome|Ring 9 gard_rare|ordo_malformation_syndrome UBERON:0004791 thymus trabecula biolink:AnatomicalEntity mondo the thymic connective tissue which extends into the parenchyma http://purl.obolibrary.org/obo/UBERON_0004791 thymus gland trabecula|thymic trabecula|trabecula of thymus gland|trabecula of thymus MONDO:0019900 non-distal monosomy 12q biolink:Disease mondo Orphanet:96160|ICD10:Q93.5 ORPHA:96160 http://purl.obolibrary.org/obo/MONDO_0019900 non-distal deletion 12q|non-telomeric monosomy 12q|non-distal monosomy type 12q ordo_malformation_syndrome MONDO:0019902 monosomy 13q34 biolink:Disease mondo ICD10:Q93.5|SCTID:766716004|Orphanet:96168 Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. SNOMEDCT:766716004|ORPHA:96168 http://purl.obolibrary.org/obo/MONDO_0019902 distal deletion 13q34|monosomy type 13q34|Del(13)(q34)|subtelomeric deletion 13q34 ordo_malformation_syndrome MONDO:0019901 non-distal monosomy 20q biolink:Disease mondo ICD10:Q93.5|Orphanet:96164 ORPHA:96164 http://purl.obolibrary.org/obo/MONDO_0019901 non-distal deletion 20q|non-telomeric monosomy 20q|non-distal monosomy type 20q ordo_malformation_syndrome UBERON:0002137 aortic valve biolink:AnatomicalEntity mondo Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] http://purl.obolibrary.org/obo/UBERON_0002137 valva aortae UBERON:0004796 prostate gland secretion biolink:AnatomicalEntity mondo A bodily secretion that is produced by the prostate gland. http://purl.obolibrary.org/obo/UBERON_0004796 prostate fluid|secretion of prostate gland|secretion of prostate|prostatic fluid|prostate secretion UBERON:0002133 atrioventricular valve biolink:AnatomicalEntity mondo A cardial valve in the atrioventricular region that separates the atrium from the ventricle and prevent backflow from the ventricles into the atria during systole. http://purl.obolibrary.org/obo/UBERON_0002133 AV valve|atrio-ventricular valve UBERON:0004797 blood vessel layer biolink:AnatomicalEntity mondo Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. http://purl.obolibrary.org/obo/UBERON_0004797 MONDO:0007928 obsolete Fechtner syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007928 UBERON:0002135 mitral valve biolink:AnatomicalEntity mondo An atrioventricular valve that is part of the outflow part of the left atrium. http://purl.obolibrary.org/obo/UBERON_0002135 valva atrioventricularis sinistra|left atrioventricular valve|valva mitralis|bicuspid valve UBERON:0004794 esophagus secretion biolink:AnatomicalEntity mondo A secretion that is part of a esophagus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004794 oesophagus secretion|gullet secretion|secretion of oesophagus|secretion of gullet|secretion of esophagus|esophageal secretion MONDO:0007929 obsolete Epstein syndrome biolink:Disease mondo http://purl.obolibrary.org/obo/MONDO_0007929 UBERON:0002134 tricuspid valve biolink:AnatomicalEntity mondo An atrioventricular valve that is part of the outflow part of the right atrium. http://purl.obolibrary.org/obo/UBERON_0002134 valvula tricuspidalis|valva atrioventricularis dextra|right atrioventricular valve UBERON:0004795 pancreas secretion biolink:AnatomicalEntity mondo A secretion that is part of a pancreas [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004795 pancreatic secretion|secretion of pancreas NCIT:C38328 PR:000009132 PR:000015322 PR:000014785 PR:000014783 NCIT:C68749 PR:000014781 PR:000014782 MFOMD:0000119 OBO:UMLS_C1709838 PR:000001886 NCIT:C35920 MFOMD:0000122 PR:000013016 NCIT:C37109 NBO:0000551 PR:000009651 owl:topObjectProperty ECTO:0001082 NCIT:C53637 NCIT:C36104 NCIT:C36869 PR:000007050 PR:000008826 PR:000007547 NCIT:C37123 NBO:0000455 NBO:0000433 NCIT:C17214 NCIT:C68748 NCIT:C45980 HP:0000870 PR:000006537 PR:000006786 PR:000010730 PR:000006427 NCIT:C45981 NCIT:C19085 PR:000050388 MFOEM:000193 MFOMD:0000101 MFOMD:0000105 NCIT:C15492 NCIT:C15493 NBO:0000034 PR:000016156 NCIT:C15497 NCIT:C15496 PR:000016654 OBA:1001084 NCIT:C147564 HP:0000316 NBO:0000612 MFOMD:0000107 MFOMD:0000109 PR:000016798 ECTO:0001591 NCBITaxon:11046 NCIT:C52005